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	A	T	G	C	Cg	cG	tCw	wGa	tCa	tGa	tCt	aGa	tC	Ga	tCh	dGa	cC	Gg	wrC	Gyw	Cc	gG	wA	Tw	tC_mutation	tC_mutation_to_G	tC_mutation_to_T	APOBEC_mutation	APOBEC_mutation_to_G	APOBEC_mutation_to_T	"CONTEXT(+/-20)"	a_counts	t_counts	g_counts	c_counts	cg_counts	tcw_counts	wga_counts	tca_counts	tga_counts	tct_counts	aga_counts	tc_counts	ga_counts	tch_counts	dga_counts	cc_counts	gg_counts	wrc_counts	gyw_counts	cc_counts	gg_counts	wa_counts	tw_counts	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	newbase	end	tum_allele1	tum_allele2	start	effect_idx	newbase_idx	pat_idx	is_coding	is_flank	is_indel	is_ins	is_del	is_missense	is_nonsense	is_splice	is_silent	gene_idx	context_and_effect	context65	categ_idx	trackpos	categ	gene	chr	pos	type	classification	ref_allele	patient	DistBetween_Mutations	Distance_to_LT_end	Distance_to_RT_end	Strain_Mutation_ID	Dataset_Mutation_ID	Complex_ID	Complex_Size	StrainCluster_ID	Dataset_Cluster_ID	Distance_Between_Clusters	Cluster_Size_Mutations	Cluster_Size_Complexes	Cluster_Length	Cluster_Coordination	Content_of_non_coordinated_cluster	Cluster_Pvalue
SPEN	23013	broad.mit.edu	37	chr1	16257094	16257094	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgcttgaaagagctaaatcCctctcttcatctcgtgaaga	11	13	7	10	1	3	4	1	2	2	2	6	4	4	4	1	0	2	2	1	0	4	4			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:16257094C>T	ENST00000375759.3	+	11	4563	c.4359C>T	c.(4357-4359)tcC>tcT	p.S1453S		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1453					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	p.S1453S(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GAGCTAAATCCCTCTCTTCAT	0.363													66	163					0	0	0.139131	0	0	T	16257094	C	T	16257094	2	4	1	1	0	0	0	0	0	0	0	1	15094	610	22	2		2	SPEN	1	16257094	Silent	SNP	C	TCGA-CH-5737-01A-11D-1576-08		16257094	232993527	1	1											
ARHGEF10L	55160	broad.mit.edu	37	chr1	17958926	17958926	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagcgtcgggtcttcctgctCaacgacatgcttgtctgtgc	5	12	12	12	3	3	0	1	0	2	0	5	2	4	0	1	1	5	2	1	1	1	2	rs116425261	by1000genomes	TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:17958926C>T	ENST00000361221.3	+	16	1854	c.1695C>T	c.(1693-1695)ctC>ctT	p.L565L	ARHGEF10L_ENST00000167825.4_Silent_p.L273L|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000434513.1_Silent_p.L565L|ARHGEF10L_ENST00000375415.1_Silent_p.L526L|ARHGEF10L_ENST00000375420.3_Silent_p.L323L|ARHGEF10L_ENST00000375408.3_Silent_p.L343L|ARHGEF10L_ENST00000452522.1_Silent_p.L526L	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	565					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	p.L565L(3)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		TCTTCCTGCTCAACGACATGC	0.602													7	288					0	0	0.038147	0	0	T	17958926	C	T	17958926	2	4	1	1	0	0	0	0	0	0	0	1	892	813	29	2		2	ARHGEF10L	1	17958926	Silent	SNP	C	TCGA-CH-5737-01A-11D-1576-08	1701832	17958926	231291695	2	2											
NBPF3	84224	broad.mit.edu	37	chr1	21799965	21799965	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tagccaccacccttgtgagtCcaaccagccttacgggaaca	11	7	8	15	1	0	1	0	1	0	0	1	2	1	2	6	1	5	0	6	1	4	3			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:21799965C>A	ENST00000318220.6	+	10	1707	c.659C>A	c.(658-660)tCc>tAc	p.S220Y	NBPF3_ENST00000342104.5_Missense_Mutation_p.S276Y|NBPF3_ENST00000454000.2_Missense_Mutation_p.S206Y|NBPF3_ENST00000318249.5_Missense_Mutation_p.S276Y			Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	276						cytoplasm		p.S276Y(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCTTGTGAGTCCAACCAGCCT	0.493													7	436					0.00198382	0.00215701	0.02938	1	0	A	21799965	C	A	21799965	3	1	1	1	0	0	0	0	1	0	0	0	10245	855	30	4	849	4	NBPF3	1	21799965	Missense_Mutation	SNP	C	TCGA-CH-5737-01A-11D-1576-08	3841039	21799965	227450656	3	3											
ZMYM4	9202	broad.mit.edu	37	chr1	35855556	35855556	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcttctttttagatggccaAatgtgatgcttgtaagcgac	9	16	9	7	1	2	2	0	1	2	1	2	3	2	2	1	1	2	2	1	1	3	7			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:35855556A>G	ENST00000314607.6	+	15	2524	c.2444A>G	c.(2443-2445)aAa>aGa	p.K815R	ZMYM4_ENST00000373297.2_Missense_Mutation_p.K726R	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	815					multicellular organismal development		DNA binding|zinc ion binding	p.K815R(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TAGATGGCCAAATGTGATGCT	0.368													24	87					0	0	0.083992	0	0	G	35855556	A	G	35855556	3	3	1	1	0	0	0	0	1	0	0	0	17760	14	1	3	2502	3	ZMYM4	1	35855556	Missense_Mutation	SNP	A	TCGA-CH-5737-01A-11D-1576-08	14055591	35855556	213395065	4	4											
SLC6A9	6536	broad.mit.edu	37	chr1	44489938	44489938	+	Frame_Shift_Del	DEL	T	T	-																															accagcatccctttggcaccTtttcctaccatggcggcggt																										TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:44489938delT	ENST00000372310.3	-	2	177	c.12delA	c.(10-12)aafs	p.K4fs	SLC6A9_ENST00000372306.3_Frame_Shift_Del_p.K4fs|SLC6A9_ENST00000492434.2_5'UTR|SLC6A9_ENST00000537678.1_5'UTR|SLC6A9_ENST00000475075.2_5'UTR	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	335						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	CTTTGGCACCTTTTCCTACCA	0.627													7	759	---	---	---	---						-	44489938	T	-	44489938	7	5	1	1	0	1	0	1	0	0	0	0	14746	1606	56	0	2198	0	SLC6A9	1	44489938	Frame_Shift_Del	DEL	T	TCGA-CH-5737-01A-11D-1576-08	8634382	44489938	204760683	5	5											
C1orf173	127254	broad.mit.edu	37	chr1	75072359	75072359	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttacttgtcatttcctccAcagcagttaccacttctttg	7	17	4	13	0	2	0	1	0	1	0	4	0	4	0	3	0	3	2	3	0	2	7			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:75072359A>T	ENST00000326665.5	-	10	1633	c.1415T>A	c.(1414-1416)gTg>gAg	p.V472E	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.V275E	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	472	Glu-rich.							p.V472E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CATTTCCTCCACAGCAGTTAC	0.363													9	495					0	0	0.058154	0	0	T	75072359	A	T	75072359	3	4	1	1	0	0	0	0	1	0	0	0	2027	159	6	5	3197	5	C1orf173	1	75072359	Missense_Mutation	SNP	A	TCGA-CH-5737-01A-11D-1576-08	30582421	75072359	174178262	6	6											
CDC7	8317	broad.mit.edu	37	chr1	91989955	91989955	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagaataacagcagaagaagCtttgttgcatccatttttta	15	13	7	6	0	0	3	0	0	0	3	1	3	1	3	1	0	4	4	1	0	6	6			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:91989955C>A	ENST00000428239.1	+	12	1947	c.1688C>A	c.(1687-1689)gCt>gAt	p.A563D	CDC7_ENST00000234626.6_Missense_Mutation_p.A563D|CDC7_ENST00000430031.2_Missense_Mutation_p.A535D	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	563	Protein kinase.				cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.A563D(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		GCAGAAGAAGCTTTGTTGCAT	0.328													14	263					1.5842e-08	1.83928e-08	0.105934	1	0	A	91989955	C	A	91989955	3	1	1	1	0	0	0	0	1	0	0	0	3106	797	28	4	1730	4	CDC7	1	91989955	Missense_Mutation	SNP	C	TCGA-CH-5737-01A-11D-1576-08	16917596	91989955	157260666	7	7											
BRDT	676	broad.mit.edu	37	chr1	92442729	92442729	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cacctataaaagaaaatatgCcaaagaatgttttgccagat	18	10	6	7	0	0	3	0	0	0	3	0	3	0	3	3	0	2	1	3	0	8	5			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:92442729C>G	ENST00000370389.2	+	6	1453	c.529C>G	c.(529-531)Cca>Gca	p.P177A	BRDT_ENST00000399546.2_Missense_Mutation_p.P250A|BRDT_ENST00000394530.3_Missense_Mutation_p.P204A|BRDT_ENST00000362005.3_Missense_Mutation_p.P250A|BRDT_ENST00000484781.1_3'UTR|BRDT_ENST00000402388.1_Missense_Mutation_p.P250A	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	250					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	p.P250A(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		AGAAAATATGCCAAAGAATGT	0.348													4	140					0	0	0.150653	0	0	G	92442729	C	G	92442729	3	3	1	1	0	0	0	0	1	0	0	0	1510	739	26	4	766	4	BRDT	1	92442729	Missense_Mutation	SNP	C	TCGA-CH-5737-01A-11D-1576-08	452774	92442729	156807892	8	8											
ABCD3	5825	broad.mit.edu	37	chr1	94980700	94980700	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taaatcattttctttgtattAggttggcatcactctcttca	9	19	5	8	0	5	0	3	0	2	0	6	0	5	0	0	2	0	3	0	2	4	8			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:94980700A>G	ENST00000370214.4	+	22	1869		c.e22-1		ABCD3_ENST00000454898.2_Splice_Site|ABCD3_ENST00000484213.1_Splice_Site|ABCD3_ENST00000536817.1_Splice_Site|ABCD3_ENST00000394233.2_Splice_Site	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3						peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		TCTTTGTATTAGGTTGGCATC	0.328													3	245					0	0	0.115264	0	0	G	94980700	A	G	94980700	5	3	1	1	0	0	0	0	0	0	1	0	62	434	15	3	1961	3	ABCD3	1	94980700	Splice_Site	SNP	A	TCGA-CH-5737-01A-11D-1576-08	2537971	94980700	154269921	9	9											
LRIG2	9860	broad.mit.edu	37	chr1	113655223	113655223	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctggcagaaagatggtggtActgactttcctgcggctcga	8	10	13	10	2	0	3	0	1	0	2	2	4	1	3	2	4	2	3	2	4	2	2			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:113655223A>G	ENST00000361127.4	+	14	2119	c.1921A>G	c.(1921-1923)Act>Gct	p.T641A	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	641	Ig-like C2-type 2.					cytoplasm|integral to membrane|plasma membrane		p.T641A(2)		breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		AGATGGTGGTACTGACTTTCC	0.493													5	201					0	0	0.021553	0	0	G	113655223	A	G	113655223	3	3	1	1	0	0	0	0	1	0	0	0	8990	391	14	3	1975	3	LRIG2	1	113655223	Missense_Mutation	SNP	A	TCGA-CH-5737-01A-11D-1576-08	18674523	113655223	135595398	10	10											
OR10Z1	128368	broad.mit.edu	37	chr1	158576525	158576525	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcctatgtgggctgtgctgcCcagatgttcttttctgcctc	3	16	10	12	0	2	1	0	0	2	1	4	1	3	1	3	1	3	3	3	1	1	4	rs146841755		TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:158576525C>T	ENST00000361284.1	+	1	297	c.297C>T	c.(295-297)gcC>gcT	p.A99A		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A99A(1)		endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					GCTGTGCTGCCCAGATGTTCT	0.542													107	396					0	0	0.139131	0	0	T	158576525	C	T	158576525	2	4	1	1	0	0	0	0	0	0	0	1	10971	610	22	2		2	OR10Z1	1	158576525	Silent	SNP	C	TCGA-CH-5737-01A-11D-1576-08	44921302	158576525	90674096	11	11											
SMG7	9887	broad.mit.edu	37	chr1	183513545	183513545	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgaagccagaaaaacacctGtaactcaaaccccaactcaa	18	5	4	14	0	2	2	2	1	0	1	2	2	2	2	4	0	5	1	4	0	7	1			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:183513545G>C	ENST00000367537.3	+	16	2044	c.1849G>C	c.(1849-1851)Gta>Cta	p.V617L	SMG7_ENST00000347615.2_Missense_Mutation_p.V634L|SMG7_ENST00000515829.2_Missense_Mutation_p.V588L|SMG7_ENST00000508461.1_Missense_Mutation_p.V592L|SMG7_ENST00000456731.2_Missense_Mutation_p.V546L|SMG7_ENST00000507469.1_Missense_Mutation_p.V588L			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	634					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	p.V634L(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						AAAAACACCTGTAACTCAAAC	0.423													4	182					0	0	0.150653	0	0	C	183513545	G	C	183513545	3	2	1	1	0	0	0	0	1	0	0	0	14852	1377	48	4	1958	4	SMG7	1	183513545	Missense_Mutation	SNP	G	TCGA-CH-5737-01A-11D-1576-08	24937020	183513545	65737076	12	12											
NR5A2	2494	broad.mit.edu	37	chr1	200089985	200089985	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggagccaccctcaacaaccTcatgagtcatgcacaggagt	12	6	9	14	1	3	1	3	1	0	0	3	3	3	3	3	2	4	1	3	2	2	0			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:200089985T>C	ENST00000367362.3	+	7	1526	c.1280T>C	c.(1279-1281)cTc>cCc	p.L427P	NR5A2_ENST00000544748.1_Missense_Mutation_p.L355P|NR5A2_ENST00000236914.3_Missense_Mutation_p.L381P	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	427					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					CTCAACAACCTCATGAGTCAT	0.418													3	209					0	0	0.150653	0	0	C	200089985	T	C	200089985	3	2	1	1	0	0	0	0	1	0	0	0	10684	1551	54	3	1306	3	NR5A2	1	200089985	Missense_Mutation	SNP	T	TCGA-CH-5737-01A-11D-1576-08	16576440	200089985	49160636	13	13											
IRF6	3664	broad.mit.edu	37	chr1	209963071	209963071	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccattcttccccaaagcAtaagtagatctcaaacggtg	12	10	8	11	1	2	1	1	0	2	1	4	1	3	1	3	2	2	2	3	2	4	4			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:209963071A>C	ENST00000367021.3	-	8	1292	c.1120T>G	c.(1120-1122)Tgc>Ggc	p.C374G	IRF6_ENST00000542854.1_Missense_Mutation_p.C279G	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	374			C -> W (in VWS).		cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.C374G(1)		cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		TCCCCAAAGCATAAGTAGATC	0.443										HNSCC(57;0.16)			3	156					0	0	0.115264	0	0	C	209963071	A	C	209963071	3	2	1	1	0	0	0	0	1	0	0	0	7878	217	8	5	291	5	IRF6	1	209963071	Missense_Mutation	SNP	A	TCGA-CH-5737-01A-11D-1576-08	9873086	209963071	39287550	14	14											
LBR	3930	broad.mit.edu	37	chr1	225607439	225607439	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtatttttatgaggtgcgTcatttctctcaatatgctca	8	18	8	7	1	4	1	3	1	1	0	5	1	4	1	0	1	2	2	0	1	4	6			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr1:225607439T>C	ENST00000338179.2	-	4	553	c.428A>G	c.(427-429)gAc>gGc	p.D143G	LBR_ENST00000272163.4_Missense_Mutation_p.D143G	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	143	Nucleoplasmic (Potential).				cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity	p.D143G(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		ATGAGGTGCGTCATTTCTCTC	0.348													4	297					0	0	0.014758	0	0	C	225607439	T	C	225607439	3	2	1	1	0	0	0	0	1	0	0	0	8691	1667	58	3	1463	3	LBR	1	225607439	Missense_Mutation	SNP	T	TCGA-CH-5737-01A-11D-1576-08	15644368	225607439	23643182	15	15											
REG3G	130120	broad.mit.edu	37	chr2	79255008	79255008	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	actttgcatgggagaaaaatCcctccaccatcttaaaccct	13	10	5	13	0	1	1	0	0	1	1	3	2	3	1	4	1	2	1	4	1	4	2			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr2:79255008C>G	ENST00000272324.5	+	5	593	c.409C>G	c.(409-411)Ccc>Gcc	p.P137A	REG3G_ENST00000393897.2_Missense_Mutation_p.P137A|REG3G_ENST00000409471.1_Missense_Mutation_p.P91A	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	137	C-type lectin.				acute-phase response	extracellular region	sugar binding	p.P137A(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGAGAAAAATCCCTCCACCAT	0.517													70	183					0	0	0.139131	0	0	G	79255008	C	G	79255008	3	3	1	1	0	0	0	0	1	0	0	0	13265	855	30	4	423	4	REG3G	2	79255008	Missense_Mutation	SNP	C	TCGA-CH-5737-01A-11D-1576-08		79255008	163944365	16	16											
ZC3H6	376940	broad.mit.edu	37	chr2	113089935	113089935	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattaggccacagtacagtgAtccaaggcaggcaaggcagc	14	5	12	10	0	0	1	0	1	0	0	1	1	1	1	2	4	2	4	2	4	5	2			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr2:113089935A>G	ENST00000409871.1	+	12	3841	c.3440A>G	c.(3439-3441)gAt>gGt	p.D1147G	ZC3H6_ENST00000343936.4_Missense_Mutation_p.D1147G	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	1147							nucleic acid binding|zinc ion binding	p.D1147G(1)		central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						CAGTACAGTGATCCAAGGCAG	0.517													6	149					0	0	0.021553	0	0	G	113089935	A	G	113089935	3	3	1	1	0	0	0	0	1	0	0	0	17630	333	12	3	3486	3	ZC3H6	2	113089935	Missense_Mutation	SNP	A	TCGA-CH-5737-01A-11D-1576-08	33834927	113089935	130109438	17	17											
GYPC	2995	broad.mit.edu	37	chr2	127453705	127453705	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgatagcagcagaaaggAgtactttatttgagggacaa	14	10	13	4	0	0	3	0	2	0	1	0	5	0	5	0	3	3	3	0	3	5	5			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr2:127453705A>T	ENST00000259254.4	+	4	705	c.374A>T	c.(373-375)gAg>gTg	p.E125V	GYPC_ENST00000356887.7_Missense_Mutation_p.E104V|GYPC_ENST00000464053.1_3'UTR|GYPC_ENST00000409836.3_Missense_Mutation_p.E106V	NM_002101.4	NP_002092.1	P04921	GLPC_HUMAN	glycophorin C (Gerbich blood group)	125						cortical cytoskeleton|integral to plasma membrane	protein binding	p.E125V(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|prostate(2)|urinary_tract(1)	13	Colorectal(110;0.0533)			BRCA - Breast invasive adenocarcinoma(221;0.075)		AGCAGAAAGGAGTACTTTATT	0.547													14	76					0	0	0.105934	0	0	T	127453705	A	T	127453705	3	4	1	1	0	0	0	0	1	0	0	0	6951	304	11	5	388	5	GYPC	2	127453705	Missense_Mutation	SNP	A	TCGA-CH-5737-01A-11D-1576-08	14363770	127453705	115745668	18	18											
HOXD3	3232	broad.mit.edu	37	chr2	177034058	177034058	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgcctgctccatccagagCtctgcccctctgagagcccc	5	9	8	19	0	3	2	0	1	3	2	5	3	5	2	7	0	5	2	7	0	0	0			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr2:177034058C>T	ENST00000468418.3	+	3	2306	c.216C>T	c.(214-216)agC>agT	p.S72S	HOXD3_ENST00000249440.3_Silent_p.S72S|HOXD3_ENST00000410016.1_Silent_p.S72S			P31249	HXD3_HUMAN	homeobox D3	72					anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S72S(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		CCATCCAGAGCTCTGCCCCTC	0.652													36	101					0	0	0.086207	0	0	T	177034058	C	T	177034058	2	4	1	1	0	0	0	0	0	0	0	1	7364	796	28	2		2	HOXD3	2	177034058	Silent	SNP	C	TCGA-CH-5737-01A-11D-1576-08	49580353	177034058	66165315	19	19											
TNS1	7145	broad.mit.edu	37	chr2	218750505	218750505	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcagtcctggctcgatggTgatgcagacgctagtctggc	7	9	15	10	2	1	2	0	1	1	1	3	4	2	2	1	3	2	4	1	3	1	1			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr2:218750505T>C	ENST00000171887.4	-	13	1155	c.703A>G	c.(703-705)Acc>Gcc	p.T235A	TNS1_ENST00000310858.6_Missense_Mutation_p.T266A|TNS1_ENST00000430930.1_Missense_Mutation_p.T235A|TNS1_ENST00000419504.1_Missense_Mutation_p.T235A	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	235	C2 tensin-type.					cytoplasm|cytoskeleton|focal adhesion	actin binding	p.T235A(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GGCTCGATGGTGATGCAGACG	0.532													6	145					0	0	0.02938	0	0	C	218750505	T	C	218750505	3	2	1	1	0	0	0	0	1	0	0	0	16403	1696	59	3	4588	3	TNS1	2	218750505	Missense_Mutation	SNP	T	TCGA-CH-5737-01A-11D-1576-08	41716447	218750505	24448868	20	20											
WDR6	11180	broad.mit.edu	37	chr3	49051423	49051423	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcttcagcatcatggttaCtccggaccccagcaccccaa	9	8	7	17	1	2	0	2	0	0	0	3	1	3	1	5	2	4	4	5	2	2	2			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr3:49051423C>A	ENST00000395474.3	+	2	2826	c.2546C>A	c.(2545-2547)aCt>aAt	p.T849N	WDR6_ENST00000415265.2_Missense_Mutation_p.T267N|WDR6_ENST00000448293.1_Missense_Mutation_p.T768N	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN	WD repeat domain 6	819					cell cycle arrest|negative regulation of cell proliferation	cytoplasm		p.T819N(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		ATCATGGTTACTCCGGACCCC	0.647											OREG0015565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	107					0.0215528	0.0230682	0.021553	1	0	A	49051423	C	A	49051423	3	1	1	1	0	0	0	0	1	0	0	0	17370	565	20	4	2552	4	WDR6	3	49051423	Missense_Mutation	SNP	C	TCGA-CH-5737-01A-11D-1576-08		49051423	148971007	21	21											
WHSC1	7468	broad.mit.edu	37	chr4	1976594	1976594	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcacttgaccttacaggaccGtataatagacgctggcccca	11	9	8	13	2	1	2	1	1	0	1	1	3	1	3	4	2	1	2	4	2	4	5			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr4:1976594G>A	ENST00000382895.3	+	21	3808	c.3377G>A	c.(3376-3378)cGt>cAt	p.R1126H	WHSC1_ENST00000508803.1_Missense_Mutation_p.R1126H|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382888.3_Missense_Mutation_p.R474H|WHSC1_ENST00000382891.5_Missense_Mutation_p.R1126H|WHSC1_ENST00000382892.2_Missense_Mutation_p.R1126H	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	1126	SET.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		TTACAGGACCGTATAATAGAC	0.428			T	IGH@	MM								4	220					0	0	0.150653	0	0	A	1976594	G	A	1976594	3	1	1	1	0	0	0	0	1	0	0	0	17422	1145	40	1	3523	1	WHSC1	4	1976594	Missense_Mutation	SNP	G	TCGA-CH-5737-01A-11D-1576-08		1976594	189177682	22	22											
NAT8L	339983	broad.mit.edu	37	chr4	2065543	2065543	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgggcattgtggctgcaCgggcccacgaggaggacaac	8	6	17	10	2	0	0	0	0	0	0	0	3	0	2	1	6	2	3	1	6	1	1			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr4:2065543C>T	ENST00000423729.2	+	3	598	c.598C>T	c.(598-600)Cgg>Tgg	p.R200W	NAT8L_ENST00000331662.3_Missense_Mutation_p.R32W	NM_178557.3	NP_848652.2	Q8N9F0	NAT8L_HUMAN	N-acetyltransferase 8-like (GCN5-related, putative)	200	N-acetyltransferase.					integral to membrane|microsome|mitochondrial membrane|rough endoplasmic reticulum membrane	aspartate N-acetyltransferase activity			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(23;0.0315)			TGTGGCTGCACGGGCCCACGA	0.662													4	101					0	0	0.150653	0	0	T	2065543	C	T	2065543	3	4	1	1	0	0	0	0	1	0	0	0	10229	527	19	1	608	1	NAT8L	4	2065543	Missense_Mutation	SNP	C	TCGA-CH-5737-01A-11D-1576-08	88949	2065543	189088733	23	23											
UTP3	57050	broad.mit.edu	37	chr4	71555682	71555682	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctaggagaaagaagattgatCgcaatcccagagtgaaacac	17	6	10	8	1	0	6	0	2	0	4	2	7	1	6	1	1	1	1	1	1	5	2			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr4:71555682C>T	ENST00000254803.2	+	1	1487	c.1288C>T	c.(1288-1290)Cgc>Tgc	p.R430C		NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)	430					brain development|chromatin modification|gene silencing	nucleolus		p.R430C(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			GAAGATTGATCGCAATCCCAG	0.408													5	215					0	0	0.014758	0	0	T	71555682	C	T	71555682	3	4	1	1	0	0	0	0	1	0	0	0	17161	884	31	1	1290	1	UTP3	4	71555682	Missense_Mutation	SNP	C	TCGA-CH-5737-01A-11D-1576-08	69490139	71555682	119598594	24	24											
KLHL2	11275	broad.mit.edu	37	chr4	166218818	166218818	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggatgtgaggcaagagtttAtggcccgactgatggaacat	12	9	14	6	1	0	3	0	2	0	1	0	6	0	5	1	4	1	2	1	4	3	2			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr4:166218818A>C	ENST00000226725.6	+	7	971	c.712A>C	c.(712-714)Atg>Ctg	p.M238L	KLHL2_ENST00000538127.1_Missense_Mutation_p.M150L|KLHL2_ENST00000421009.2_Missense_Mutation_p.M141L|KLHL2_ENST00000509028.1_3'UTR|KLHL2_ENST00000514860.1_Missense_Mutation_p.M242L|KLHL2_ENST00000506761.1_Missense_Mutation_p.M72L	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	238					intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity	p.M238L(2)		endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		GCAAGAGTTTATGGCCCGACT	0.393													4	174					0	0	0.014758	0	0	C	166218818	A	C	166218818	3	2	1	1	0	0	0	0	1	0	0	0	8417	449	16	5	780	5	KLHL2	4	166218818	Missense_Mutation	SNP	A	TCGA-CH-5737-01A-11D-1576-08	94663136	166218818	24935458	25	25											
F11	2160	broad.mit.edu	37	chr4	187206814	187206814	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagagtcacctaagattttgCgtgtctacagtggcatttta	10	15	9	7	1	2	2	1	0	1	2	2	2	2	2	1	1	2	1	1	1	4	7			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr4:187206814C>T	ENST00000264692.4	+	12	1504	c.1171C>T	c.(1171-1173)Cgt>Tgt	p.R391C	F11_ENST00000403665.2_Missense_Mutation_p.R443C			P03951	FA11_HUMAN	coagulation factor XI	443	Peptidase S1.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity	p.R443C(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	TAAGATTTTGCGTGTCTACAG	0.358													4	215					0	0	0.014758	0	0	T	187206814	C	T	187206814	3	4	1	1	0	0	0	0	1	0	0	0	5365	768	27	1	1369	1	F11	4	187206814	Missense_Mutation	SNP	C	TCGA-CH-5737-01A-11D-1576-08	20987996	187206814	3947462	26	26											
CDH12	1010	broad.mit.edu	37	chr5	21755850	21755850	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cattgtgtttgtgctgctctGgacagggtagctgctgtctt	4	16	13	8	0	2	0	0	0	2	0	2	1	2	1	0	2	4	6	0	2	1	4			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr5:21755850G>A	ENST00000382254.1	-	14	2821	c.1735C>T	c.(1735-1737)Cag>Tag	p.Q579*	CDH12_ENST00000504376.2_Nonsense_Mutation_p.Q579*|CDH12_ENST00000522262.1_Nonsense_Mutation_p.Q539*|CDH12_ENST00000521384.1_5'UTR|RP11-804N13.1_ENST00000522350.1_RNA	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	579	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.Q579*(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GTGCTGCTCTGGACAGGGTAG	0.468										HNSCC(59;0.17)			4	207					0	0	0.021553	0	0	A	21755850	G	A	21755850	4	1	1	1	0	0	0	0	0	1	0	0	3120	1357	47	2	657	2	CDH12	5	21755850	Nonsense_Mutation	SNP	G	TCGA-CH-5737-01A-11D-1576-08		21755850	159159410	27	27											
CDH6	1004	broad.mit.edu	37	chr5	31317551	31317551	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	accaattttcgttttccttgGcccctgaagcagccagtggc	7	12	9	13	1	0	1	0	1	0	0	2	1	1	1	5	2	2	2	5	2	2	5			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr5:31317551G>A	ENST00000265071.2	+	10	1847	c.1582G>A	c.(1582-1584)Gcc>Acc	p.A528T	CDH6_ENST00000514738.1_Missense_Mutation_p.A473T	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	528	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.A528T(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GTTTTCCTTGGCCCCTGAAGC	0.413													51	163					0	0	0.139131	0	0	A	31317551	G	A	31317551	3	1	1	1	0	0	0	0	1	0	0	0	3136	1203	42	2	1616	2	CDH6	5	31317551	Missense_Mutation	SNP	G	TCGA-CH-5737-01A-11D-1576-08	9561701	31317551	149597709	28	28											
MTMR12	54545	broad.mit.edu	37	chr5	32274132	32274132	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccaagaaggcaatcttgAagtctgtgcagacaagcctc	13	7	9	12	0	2	3	0	1	2	2	3	3	2	3	2	1	2	2	2	1	5	1			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr5:32274132A>C	ENST00000382142.3	-	3	409	c.239T>G	c.(238-240)tTc>tGc	p.F80C	MTMR12_ENST00000264934.5_Missense_Mutation_p.F80C|MTMR12_ENST00000280285.5_Missense_Mutation_p.F80C	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	80						cytoplasm	phosphatase activity	p.F80C(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GGCAATCTTGAAGTCTGTGCA	0.483													12	310					0	0	0.105934	0	0	C	32274132	A	C	32274132	3	2	1	1	0	0	0	0	1	0	0	0	9989	246	9	5	2060	5	MTMR12	5	32274132	Missense_Mutation	SNP	A	TCGA-CH-5737-01A-11D-1576-08	956581	32274132	148641128	29	29											
SKIV2L2	23517	broad.mit.edu	37	chr5	54635836	54635836	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttatttgttttcacatttgtAggtatgccattgcattggcc	7	19	8	7	0	1	0	1	0	0	0	1	0	1	0	2	2	2	4	2	2	3	9			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr5:54635836A>G	ENST00000230640.5	+	6	769		c.e6-1		SKIV2L2_ENST00000545714.1_Splice_Site	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)						maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.?(1)		NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				TCACATTTGTAGGTATGCCAT	0.303													25	120					0	0	0.083992	0	0	G	54635836	A	G	54635836	5	3	1	1	0	0	0	0	0	0	1	0	14415	434	15	3	536	3	SKIV2L2	5	54635836	Splice_Site	SNP	A	TCGA-CH-5737-01A-11D-1576-08	22361704	54635836	126279424	30	30											
ARSB	411	broad.mit.edu	37	chr5	78260259	78260259	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttctctggtggatggttagTtatgagggctatagcccttt	6	16	12	7	0	1	1	0	1	1	0	2	2	1	2	1	4	1	3	1	4	4	6			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr5:78260259T>G	ENST00000264914.4	-	3	1206	c.670A>C	c.(670-672)Act>Cct	p.T224P	ARSB_ENST00000565165.1_Missense_Mutation_p.T224P|ARSB_ENST00000396151.3_Missense_Mutation_p.T224P	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	224					lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		GGATGGTTAGTTATGAGGGCT	0.363													3	191					0	0	0.115264	0	0	G	78260259	T	G	78260259	3	3	1	1	0	0	0	0	1	0	0	0	987	1725	60	5	988	5	ARSB	5	78260259	Missense_Mutation	SNP	T	TCGA-CH-5737-01A-11D-1576-08	23624423	78260259	102655001	31	31											
KCNN2	3781	broad.mit.edu	37	chr5	113740445	113740445	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taataagataaacttcaataCacgttttgttatgaagactt	16	15	5	5	1	1	3	1	1	0	2	1	3	1	3	0	0	2	2	0	0	8	9			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr5:113740445C>G	ENST00000512097.3	+	4	1911	c.893C>G	c.(892-894)aCa>aGa	p.T298R	KCNN2_ENST00000507750.1_Intron|KCNN2_ENST00000264773.3_Missense_Mutation_p.T298R			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	298						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	p.T298R(2)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		AACTTCAATACACGTTTTGTT	0.383													7	376					0	0	0.02938	0	0	G	113740445	C	G	113740445	3	3	1	1	0	0	0	0	1	0	0	0	8123	478	17	4	903	4	KCNN2	5	113740445	Missense_Mutation	SNP	C	TCGA-CH-5737-01A-11D-1576-08	35480186	113740445	67174815	32	32											
SNCAIP	9627	broad.mit.edu	37	chr5	121786251	121786251	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accatcctcacctgcctccaGaaagtcccagtggaaatctc	11	8	6	16	0	2	1	1	0	1	1	6	2	5	2	6	1	1	0	6	1	2	0			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr5:121786251G>T	ENST00000261367.7	+	12	3278	c.1850G>T	c.(1849-1851)aGa>aTa	p.R617I	SNCAIP_ENST00000379538.3_Missense_Mutation_p.R204I|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000261368.8_Missense_Mutation_p.R570I|SNCAIP_ENST00000504884.2_3'UTR|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000379536.2_Missense_Mutation_p.R510I|SNCAIP_ENST00000379533.2_Missense_Mutation_p.R617I|CTC-210G5.1_ENST00000505546.1_RNA|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000414317.2_Missense_Mutation_p.R172I|SNCAIP_ENST00000542191.1_Missense_Mutation_p.R128I|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000503116.2_3'UTR			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	570					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding	p.R617I(1)|p.R570I(1)		NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CCTGCCTCCAGAAAGTCCCAG	0.458													11	348					3.86212e-05	4.33697e-05	0.069234	1	0	T	121786251	G	T	121786251	3	4	1	1	0	0	0	0	1	0	0	0	14895	942	33	4	1743	4	SNCAIP	5	121786251	Missense_Mutation	SNP	G	TCGA-CH-5737-01A-11D-1576-08	8045806	121786251	59129009	33	33											
MATR3	9782	broad.mit.edu	37	chr5	138643657	138643657	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggaagaaaaaaggcactttAgaagagatagttttgatgat	17	10	12	2	0	0	5	0	2	0	3	0	7	0	6	0	2	0	2	0	2	7	5			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr5:138643657A>C	ENST00000394800.2	+	6	1102	c.553A>C	c.(553-555)Aga>Cga	p.R185R	MATR3_ENST00000394805.3_Silent_p.R185R|MATR3_ENST00000502929.1_Silent_p.R185R|MATR3_ENST00000361059.2_Silent_p.R185R|MATR3_ENST00000504203.1_Intron|MATR3_ENST00000503811.1_Intron|MATR3_ENST00000510056.1_Silent_p.R185R|MATR3_ENST00000502499.1_Intron|MATR3_ENST00000509990.1_Silent_p.R185R			P43243	MATR3_HUMAN	matrin 3	185						nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding	p.R185R(1)		breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AAGGCACTTTAGAAGAGATAG	0.443													5	143					0	0	0.021553	0	0	C	138643657	A	C	138643657	2	2	1	1	0	0	0	0	0	0	0	1	9387	412	15	5		5	MATR3	5	138643657	Silent	SNP	A	TCGA-CH-5737-01A-11D-1576-08	16857406	138643657	42271603	34	34											
PCDHB2	0	broad.mit.edu	37	chr5	140476346	140476346	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctccgcgctcggccaccGccacgctgcacgtgctcctg	4	6	11	20	6	0	0	0	0	0	0	3	0	2	0	6	1	3	4	6	1	0	0			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr5:140476346G>A	ENST00000194155.4	+	1	2120	c.1972G>A	c.(1972-1974)Gcc>Acc	p.A658T		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		658	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.A658T(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCGGCCACCGCCACGCTGCA	0.711													23	58					0	0	0.108266	0	0	A	140476346	G	A	140476346	3	1	1	1	0	0	0	0	1	0	0	0	11589	1087	38	1	1974	1	PCDHB2	5	140476346	Missense_Mutation	SNP	G	TCGA-CH-5737-01A-11D-1576-08	1832689	140476346	40438914	35	35											
SH3TC2	79628	broad.mit.edu	37	chr5	148407223	148407223	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	taccatgttgctggacagagGccactgcaaggtgtggaaga	11	8	14	8	0	0	2	0	0	0	2	0	4	0	4	2	4	3	3	2	4	3	2			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr5:148407223G>A	ENST00000538184.1	-	7	1601	c.713C>T	c.(712-714)gCc>gTc	p.A238V	SH3TC2_ENST00000515425.1_Missense_Mutation_p.A691V|SH3TC2_ENST00000512049.1_Missense_Mutation_p.A684V|SH3TC2_ENST00000394358.2_Missense_Mutation_p.A576V			Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	691							binding	p.A576V(1)|p.A691V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGACAGAGGCCACTGCAAG	0.527													49	176					0	0	0.139131	0	0	A	148407223	G	A	148407223	3	1	1	1	0	0	0	0	1	0	0	0	14317	1203	42	2	1822	2	SH3TC2	5	148407223	Missense_Mutation	SNP	G	TCGA-CH-5737-01A-11D-1576-08	7930877	148407223	32508037	36	36											
FAT2	2196	broad.mit.edu	37	chr5	150886733	150886733	+	Frame_Shift_Del	DEL	A	A	-																															acccatctcctcgctggaccAggttctcttaatgacaggct																										TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr5:150886733delA	ENST00000261800.5	-	22	12511	c.12499delT	c.(12499-12501)ggfs	p.W4167fs		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	4167					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)			TCGCTGGACCAGGTTCTCTTA	0.557													57	163	---	---	---	---						-	150886733	A	-	150886733	7	5	1	1	0	1	0	1	0	0	0	0	5723	188	7	0	558	0	FAT2	5	150886733	Frame_Shift_Del	DEL	A	TCGA-CH-5737-01A-11D-1576-08	2479510	150886733	30028527	37	37											
ATP10B	23120	broad.mit.edu	37	chr5	160042863	160042863	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaagtaaggtgagttgatTctccagatgctgtgcagttt	10	13	11	7	0	1	3	0	2	1	1	2	3	1	3	2	1	2	5	2	1	2	4			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr5:160042863T>G	ENST00000327245.5	-	17	3481	c.2635A>C	c.(2635-2637)Aat>Cat	p.N879H	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	879					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.N879H(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTGAGTTGATTCTCCAGATGC	0.493													114	173					0	0	0.139131	0	0	G	160042863	T	G	160042863	3	3	1	1	0	0	0	0	1	0	0	0	1116	1783	62	5	1790	5	ATP10B	5	160042863	Missense_Mutation	SNP	T	TCGA-CH-5737-01A-11D-1576-08	9156130	160042863	20872397	38	38											
HIST1H2BH	8345	broad.mit.edu	37	chr6	26252136	26252136	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcctggctcattacaacaaGcgttcgaccatcacctccag	10	8	7	16	3	2	0	2	0	0	0	4	1	3	0	4	1	3	2	4	1	3	2			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr6:26252136G>T	ENST00000356350.2	+	1	258	c.258G>T	c.(256-258)aaG>aaT	p.K86N		NM_003524.2	NP_003515.1	Q93079	H2B1H_HUMAN	histone cluster 1, H2bh	86					nucleosome assembly	nucleosome|nucleus	DNA binding	p.K86N(1)		NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	17						ATTACAACAAGCGTTCGACCA	0.607													15	167					1.35283e-19	1.62577e-19	0.146539	1	0	T	26252136	G	T	26252136	3	4	1	1	0	0	0	0	1	0	0	0	7188	962	34	4	260	4	HIST1H2BH	6	26252136	Missense_Mutation	SNP	G	TCGA-CH-5737-01A-11D-1576-08		26252136	144862931	39	39											
BTN3A1	0	broad.mit.edu	37	chr6	26407900	26407900	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaattcatccttccacagcActgggttctgatcttcacgt	8	14	6	13	1	4	1	2	1	2	0	6	1	6	1	2	1	1	2	2	1	1	5			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr6:26407900A>T	ENST00000289361.6	+	4	803	c.433_splice	c.e4-1	p.A145_splice	BTN3A1_ENST00000425234.2_Splice_Site_p.A145_splice|BTN3A1_ENST00000414912.2_Intron|BTN3A1_ENST00000476549.2_Splice_Site_p.A145_splice	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	145	Ig-like V-type 2.				lipid metabolic process	integral to membrane		p.A145A(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						CTTCCACAGCACTGGGTTCTG	0.473													4	111					0	0	0.150653	0	0	T	26407900	A	T	26407900	5	4	1	1	0	0	0	0	0	0	1	0	1565	173	6	5	445	5	BTN3A1	6	26407900	Splice_Site	SNP	A	TCGA-CH-5737-01A-11D-1576-08	155764	26407900	144707167	40	40											
PPP2R5D	5528	broad.mit.edu	37	chr6	42975223	42975223	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacatagccaagaagtacatCgaccagaagtttgtacttgc	15	9	8	9	1	0	2	0	0	0	2	1	3	0	2	2	0	5	3	2	0	7	5			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr6:42975223C>T	ENST00000485511.1	+	6	884	c.705C>T	c.(703-705)atC>atT	p.I235I	PPP2R5D_ENST00000394110.3_Silent_p.I203I|PPP2R5D_ENST00000461010.1_Silent_p.I129I|PPP2R5D_ENST00000472118.1_Silent_p.I227I	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	235					nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	p.I235I(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			AGAAGTACATCGACCAGAAGT	0.512													16	224					0	0	0.043863	0	0	T	42975223	C	T	42975223	2	4	1	1	0	0	0	0	0	0	0	1	12444	874	31	1		1	PPP2R5D	6	42975223	Silent	SNP	C	TCGA-CH-5737-01A-11D-1576-08	16567323	42975223	128139844	41	41											
ROS1	6098	broad.mit.edu	37	chr6	117663708	117663708	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctatactgtcctgaaattcCtgtaattgattttttaaaaa	13	17	5	6	0	0	2	0	2	0	0	2	2	2	2	2	0	1	2	2	0	7	8			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr6:117663708C>A	ENST00000368508.3	-	28	4723		c.e28-1		GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Splice_Site	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase						transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.?(3)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CCTGAAATTCCTGTAATTGAT	0.254			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								14	46					4.3838e-07	5.0469e-07	0.105934	1	0	A	117663708	C	A	117663708	5	1	1	1	0	0	0	0	0	0	1	0	13583	695	24	4	2583	4	ROS1	6	117663708	Splice_Site	SNP	C	TCGA-CH-5737-01A-11D-1576-08	74688485	117663708	53451359	42	42											
ABCB5	340273	broad.mit.edu	37	chr7	20685387	20685387	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtttattacagatggtcatCtcattgaccagtaaggaatt	12	14	9	6	0	2	2	2	1	1	1	3	3	2	3	1	3	1	2	1	3	4	6			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr7:20685387C>T	ENST00000404938.2	+	8	1339	c.687C>T	c.(685-687)atC>atT	p.I229I		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	415					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						AGATGGTCATCTCATTGACCA	0.403													4	231					0	0	0.014758	0	0	T	20685387	C	T	20685387	2	4	1	1	0	0	0	0	0	0	0	1	44	903	32	2		2	ABCB5	7	20685387	Silent	SNP	C	TCGA-CH-5737-01A-11D-1576-08		20685387	138453276	43	43											
SUMF2	25870	broad.mit.edu	37	chr7	56142370	56142370	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgcctactgtgcttggcGgggaaaacgactgcccacgg	7	7	14	13	4	0	0	0	0	0	0	0	2	0	1	3	4	5	1	3	4	3	2			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr7:56142370G>A	ENST00000434526.2	+	5	564	c.533G>A	c.(532-534)cGg>cAg	p.R178Q	SUMF2_ENST00000342190.6_Missense_Mutation_p.R178Q|SUMF2_ENST00000437307.2_Intron|SUMF2_ENST00000275607.9_Missense_Mutation_p.R71Q|SUMF2_ENST00000395436.2_Missense_Mutation_p.R163Q|SUMF2_ENST00000413756.1_Missense_Mutation_p.R159Q|SUMF2_ENST00000395435.2_Intron	NM_001042469.1|NM_015411.2	NP_001035934.2|NP_056226.2	Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2	159						endoplasmic reticulum lumen	metal ion binding	p.R159L(1)|p.R178L(1)		breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGTGCTTGGCGGGGAAAACGA	0.587											OREG0018081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	226					0	0	0.014758	0	0	A	56142370	G	A	56142370	3	1	1	1	0	0	0	0	1	0	0	0	15442	1116	39	1	551	1	SUMF2	7	56142370	Missense_Mutation	SNP	G	TCGA-CH-5737-01A-11D-1576-08	35456983	56142370	102996293	44	44											
SEMA3D	223117	broad.mit.edu	37	chr7	84694822	84694822	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agggatcgagtgaatgcagtAtctttgccaaggaaatcaga	14	9	12	6	1	2	2	1	1	1	1	3	5	2	4	1	2	2	2	1	2	4	2			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr7:84694822A>G	ENST00000284136.6	-	6	679	c.636T>C	c.(634-636)gaT>gaC	p.D212D	SEMA3D_ENST00000444867.1_Silent_p.D212D	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	212	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	p.D212D(1)		NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TGAATGCAGTATCTTTGCCAA	0.423													6	95					0	0	0.021553	0	0	G	84694822	A	G	84694822	2	3	1	1	0	0	0	0	0	0	0	1	14081	446	16	3		3	SEMA3D	7	84694822	Silent	SNP	A	TCGA-CH-5737-01A-11D-1576-08	28552452	84694822	74443841	45	45											
PON2	5445	broad.mit.edu	37	chr7	95053856	95053856	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taatcaggtggcagtgtggaAggtctacagattctacttct	10	13	11	7	0	4	1	1	0	3	1	4	2	4	2	0	4	2	1	0	4	4	5			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr7:95053856A>G	ENST00000536183.1	-	2	362	c.179T>C	c.(178-180)cTt>cCt	p.L60P	PON2_ENST00000433091.2_Missense_Mutation_p.L39P|PON2_ENST00000222572.3_Missense_Mutation_p.L39P	NM_000305.2	NP_000296.2	Q15165	PON2_HUMAN	paraoxonase 2	39					aromatic compound catabolic process	extracellular region|plasma membrane	arylesterase activity|identical protein binding|metal ion binding	p.L39P(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		STAD - Stomach adenocarcinoma(171;0.0151)			GCAGTGTGGAAGGTCTACAGA	0.333													16	183					0	0	0.160694	0	0	G	95053856	A	G	95053856	3	3	1	1	0	0	0	0	1	0	0	0	12297	72	3	3	980	3	PON2	7	95053856	Missense_Mutation	SNP	A	TCGA-CH-5737-01A-11D-1576-08	10359034	95053856	64084807	46	46											
TAS2R16	50833	broad.mit.edu	37	chr7	122635274	122635274	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctgaagggatgattgttaCacaagtaatcatcagagaac	16	9	10	6	0	2	3	2	2	0	1	2	5	2	4	0	1	3	3	0	1	5	3			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr7:122635274C>A	ENST00000249284.2	-	1	480	c.415G>T	c.(415-417)Gta>Tta	p.V139L		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	139					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding	p.V139L(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ATGATTGTTACACAAGTAATC	0.403													4	171					0.150653	0.158766	0.150653	1	0	A	122635274	C	A	122635274	3	1	1	1	0	0	0	0	1	0	0	0	15626	478	17	4	464	4	TAS2R16	7	122635274	Missense_Mutation	SNP	C	TCGA-CH-5737-01A-11D-1576-08	27581418	122635274	36503389	47	47											
PAXIP1	22976	broad.mit.edu	37	chr7	154754078	154754078	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgggaaggccactgggaagtGaagggctcggtgcggcggta	8	6	20	7	3	0	1	0	1	0	0	1	3	0	3	1	7	1	2	1	7	4	1			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr7:154754078G>A	ENST00000404141.1	-	10	2234	c.2080C>T	c.(2080-2082)Cac>Tac	p.H694Y	PAXIP1_ENST00000397192.1_Missense_Mutation_p.H694Y|PAXIP1_ENST00000473219.1_5'UTR			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	694	BRCT 3.|Interaction with TP53BP1.				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix		p.H660Y(1)|p.H694Y(1)		NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		ACTGGGAAGTGAAGGGCTCGG	0.468													5	163					0	0	0.021553	0	0	A	154754078	G	A	154754078	3	1	1	1	0	0	0	0	1	0	0	0	11534	1290	45	2	1177	2	PAXIP1	7	154754078	Missense_Mutation	SNP	G	TCGA-CH-5737-01A-11D-1576-08	32118804	154754078	4384585	48	48											
CCDC25	55246	broad.mit.edu	37	chr8	27605731	27605731	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gctaggtctgggaaccgctcGactttggtcttttctaatcg	6	14	11	10	3	3	0	0	0	3	0	5	2	3	1	1	3	1	2	1	3	3	5			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr8:27605731G>C	ENST00000356537.4	-	7	507	c.414C>G	c.(412-414)gtC>gtG	p.V138V	CCDC25_ENST00000539095.1_Silent_p.V70V|CCDC25_ENST00000522915.1_Silent_p.V70V|RP11-16P20.3_ENST00000521510.1_RNA	NM_018246.2	NP_060716.2	Q86WR0	CCD25_HUMAN	coiled-coil domain containing 25	138								p.V138V(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0223)|KIRC - Kidney renal clear cell carcinoma(542;0.11)|Kidney(114;0.131)|Colorectal(74;0.154)		GGAACCGCTCGACTTTGGTCT	0.393													39	175					0	0	0.09836	0	0	C	27605731	G	C	27605731	2	2	1	1	0	0	0	0	0	0	0	1	2819	1045	37	4		4	CCDC25	8	27605731	Silent	SNP	G	TCGA-CH-5737-01A-11D-1576-08		27605731	118758291	49	49											
MPDZ	8777	broad.mit.edu	37	chr9	13224386	13224386	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcttacctgggccatatttTtgataagctgatcaaattca	11	16	6	8	0	3	2	2	2	1	0	3	2	3	2	2	1	2	1	2	1	4	7			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr9:13224386T>G	ENST00000319217.7	-	4	627	c.380A>C	c.(379-381)aAa>aCa	p.K127T	MPDZ_ENST00000536827.1_Missense_Mutation_p.K127T|MPDZ_ENST00000447879.1_Missense_Mutation_p.K127T|MPDZ_ENST00000381022.2_Missense_Mutation_p.K127T|MPDZ_ENST00000381015.4_Missense_Mutation_p.K127T|MPDZ_ENST00000541718.1_Missense_Mutation_p.K127T|MPDZ_ENST00000546205.1_Missense_Mutation_p.K127T	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	127					interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	p.K127T(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GGCCATATTTTTGATAAGCTG	0.338													53	207					0	0	0.139131	0	0	G	13224386	T	G	13224386	3	3	1	1	0	0	0	0	1	0	0	0	9771	1841	64	5	5917	5	MPDZ	9	13224386	Missense_Mutation	SNP	T	TCGA-CH-5737-01A-11D-1576-08		13224386	127989045	50	50											
TAF1L	138474	broad.mit.edu	37	chr9	32632973	32632973	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctgtgcgtttgaagtcagCgcagagctttagcctcttcc	6	12	10	13	2	2	2	1	1	1	1	3	2	3	2	3	0	4	3	3	0	2	4			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr9:32632973C>T	ENST00000242310.4	-	1	2694	c.2605G>A	c.(2605-2607)Gct>Act	p.A869T		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	869					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	p.A869T(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TTGAAGTCAGCGCAGAGCTTT	0.463													11	307					0	0	0.080935	0	0	T	32632973	C	T	32632973	3	4	1	1	0	0	0	0	1	0	0	0	15580	768	27	1	2879	1	TAF1L	9	32632973	Missense_Mutation	SNP	C	TCGA-CH-5737-01A-11D-1576-08	19408587	32632973	108580458	51	51											
MSMP	692094	broad.mit.edu	37	chr9	35753744	35753744	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actcacccagggtaaaatatTtcccctcatagtgacagggg	12	9	9	11	0	2	1	2	1	0	0	3	1	3	1	3	3	0	1	3	3	4	4			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr9:35753744T>G	ENST00000436428.2	-	2	291	c.152A>C	c.(151-153)aAa>aCa	p.K51T	RGP1_ENST00000378078.4_3'UTR|MSMP_ENST00000414286.1_5'UTR	NM_001044264.2	NP_001037729.1	Q1L6U9	MSMP_HUMAN	microseminoprotein, prostate associated	51						extracellular region		p.K51T(1)		endometrium(2)|kidney(1)|lung(3)|prostate(3)	9						GGTAAAATATTTCCCCTCATA	0.537													9	60					0	0	0.047766	0	0	G	35753744	T	G	35753744	3	3	1	1	0	0	0	0	1	0	0	0	9932	1841	64	5	275	5	MSMP	9	35753744	Missense_Mutation	SNP	T	TCGA-CH-5737-01A-11D-1576-08	3120771	35753744	105459687	52	52											
VPS13A	23230	broad.mit.edu	37	chr9	79938099	79938099	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctattgtttgtcaaattgatAcagtagaaggaagtaagaag	16	12	10	3	0	1	3	1	1	0	2	1	4	1	4	0	1	1	3	0	1	8	7			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr9:79938099A>G	ENST00000360280.3	+	45	6207	c.5947A>G	c.(5947-5949)Aca>Gca	p.T1983A	VPS13A_ENST00000376634.4_Missense_Mutation_p.T1983A|VPS13A_ENST00000376636.3_Missense_Mutation_p.T1944A|VPS13A_ENST00000357409.5_Missense_Mutation_p.T1983A	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1983					Golgi to endosome transport|protein transport	intracellular	protein binding	p.T1983A(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TCAAATTGATACAGTAGAAGG	0.403													3	186					0	0	0.115264	0	0	G	79938099	A	G	79938099	3	3	1	1	0	0	0	0	1	0	0	0	17249	391	14	3	6125	3	VPS13A	9	79938099	Missense_Mutation	SNP	A	TCGA-CH-5737-01A-11D-1576-08	44184355	79938099	61275332	53	53											
COL15A1	1306	broad.mit.edu	37	chr9	101748355	101748355	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagtccagcgctggaatcttCatgggcaatgcaggagctac	10	8	13	10	1	2	0	1	0	1	0	3	3	3	2	1	3	4	4	1	3	3	2			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr9:101748355C>T	ENST00000375001.3	+	3	1032	c.609C>T	c.(607-609)ttC>ttT	p.F203F		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	203	TSP N-terminal.				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	p.F203F(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CTGGAATCTTCATGGGCAATG	0.557													4	138					0	0	0.014758	0	0	T	101748355	C	T	101748355	2	4	1	1	0	0	0	0	0	0	0	1	3695	825	29	2		2	COL15A1	9	101748355	Silent	SNP	C	TCGA-CH-5737-01A-11D-1576-08	21810256	101748355	39465076	54	54											
SNX30	401548	broad.mit.edu	37	chr9	115631068	115631068	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgttgtcgttccagtgccTcatggcgtgggagtcgatta	6	14	13	8	3	1	0	1	0	0	0	4	2	2	1	2	2	1	2	2	2	2	4			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr9:115631068T>C	ENST00000374232.3	+	9	1423	c.1259T>C	c.(1258-1260)cTc>cCc	p.L420P	SNX30_ENST00000604751.1_Intron	NM_001012994.1	NP_001013012.1	Q5VWJ9	SNX30_HUMAN	sorting nexin family member 30	420					cell communication|protein transport	cytoplasm	phosphatidylinositol binding			large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						TTCCAGTGCCTCATGGCGTGG	0.493													3	195					0	0	0.150653	0	0	C	115631068	T	C	115631068	3	2	1	1	0	0	0	0	1	0	0	0	14954	1551	54	3	1293	3	SNX30	9	115631068	Missense_Mutation	SNP	T	TCGA-CH-5737-01A-11D-1576-08	13882713	115631068	25582363	55	55											
GOLGA2	2801	broad.mit.edu	37	chr9	131023799	131023799	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctttgagattctccgcataTttatctctctccatttgtag	7	18	5	11	1	3	1	0	1	3	1	6	2	3	1	3	0	0	2	3	0	3	7			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr9:131023799T>A	ENST00000421699.2	-	15	1197	c.1185A>T	c.(1183-1185)aaA>aaT	p.K395N		NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	395						Golgi cisterna membrane	protein binding	p.K383N(1)|p.K395N(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						TCTCCGCATATTTATCTCTCT	0.517													9	217					0	0	0.058154	0	0	A	131023799	T	A	131023799	3	1	1	1	0	0	0	0	1	0	0	0	6594	1490	52	5	1871	5	GOLGA2	9	131023799	Missense_Mutation	SNP	T	TCGA-CH-5737-01A-11D-1576-08	15392731	131023799	10189632	56	56											
ARID5B	84159	broad.mit.edu	37	chr10	63851205	63851205	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gacatgttcaaagacaaagaCctgactgggcccatgaacga	15	6	10	10	1	1	4	1	2	0	2	1	6	1	4	2	1	1	1	2	1	3	1			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr10:63851205C>G	ENST00000279873.7	+	10	2393	c.1983C>G	c.(1981-1983)gaC>gaG	p.D661E	ARID5B_ENST00000309334.5_Missense_Mutation_p.D418E	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	661					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding	p.D661E(1)		NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					AAGACAAAGACCTGACTGGGC	0.537													3	59					0	0	0.115264	0	0	G	63851205	C	G	63851205	3	3	1	1	0	0	0	0	1	0	0	0	919	506	18	4	2021	4	ARID5B	10	63851205	Missense_Mutation	SNP	C	TCGA-CH-5737-01A-11D-1576-08		63851205	71683542	57	57											
PTEN	5728	broad.mit.edu	37	chr10	89692871	89692871	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taagtgaagatgacaatcatGttgcagcaattcactgtaaa	16	11	8	6	0	2	3	2	2	0	1	2	3	2	3	0	0	2	4	0	0	6	4	rs139767111		TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr10:89692871G>T	ENST00000371953.3	+	5	1712	c.355G>T	c.(355-357)Gtt>Ttt	p.V119F		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	119	Phosphatase tensin-type.		V -> L (in multiple cancers).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.V119F(2)|p.V119fs*15(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGACAATCATGTTGCAGCAAT	0.403		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			58	83					5.00936e-31	6.12752e-31	0.139131	1	0	T	89692871	G	T	89692871	3	4	1	1	0	0	0	0	1	0	0	0	12787	1377	48	4	373	4	PTEN	10	89692871	Missense_Mutation	SNP	G	TCGA-CH-5737-01A-11D-1576-08	25841666	89692871	45841876	58	58											
CCDC147	159686	broad.mit.edu	37	chr10	106125599	106125599	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaaatccagcaacgtcagAacgaagcttcccgggagttc	14	6	10	11	3	1	2	1	0	0	2	4	4	3	3	2	1	4	3	2	1	5	2			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr10:106125599A>C	ENST00000369704.3	+	5	759	c.625A>C	c.(625-627)Aac>Cac	p.N209H	CCDC147_ENST00000312902.5_5'UTR	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	209								p.N209H(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		GCAACGTCAGAACGAAGCTTC	0.512													4	86					0	0	0.150653	0	0	C	106125599	A	C	106125599	3	2	1	1	0	0	0	0	1	0	0	0	2799	246	9	5	643	5	CCDC147	10	106125599	Missense_Mutation	SNP	A	TCGA-CH-5737-01A-11D-1576-08	16432728	106125599	29409148	59	59											
OR5T1	390155	broad.mit.edu	37	chr11	56043918	56043918	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atttatcatgggacaatcctCttcatgtatgtgagaccaag	12	13	8	8	0	3	1	2	1	1	1	4	3	4	2	2	1	0	1	2	1	4	4			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr11:56043918C>T	ENST00000313033.2	+	1	890	c.804C>T	c.(802-804)ctC>ctT	p.L268L		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L268L(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					GGACAATCCTCTTCATGTATG	0.428													165	329					0	0	0.139131	0	0	T	56043918	C	T	56043918	2	4	1	1	0	0	0	0	0	0	0	1	11228	900	32	2		2	OR5T1	11	56043918	Silent	SNP	C	TCGA-CH-5737-01A-11D-1576-08		56043918	78962598	60	60											
OR5B12	390191	broad.mit.edu	37	chr11	58207266	58207266	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtttacacaatgctgcatagCggtcataggccattgatgcc	10	11	10	10	1	1	1	1	1	0	0	1	1	1	1	2	2	5	3	2	2	4	5			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr11:58207266C>T	ENST00000302572.2	-	1	380	c.359G>A	c.(358-360)cGc>cAc	p.R120H		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R120H(1)		large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TGCTGCATAGCGGTCATAGGC	0.433													48	112					0	0	0.139131	0	0	T	58207266	C	T	58207266	3	4	1	1	0	0	0	0	1	0	0	0	11195	768	27	1	589	1	OR5B12	11	58207266	Missense_Mutation	SNP	C	TCGA-CH-5737-01A-11D-1576-08	2163348	58207266	76799250	61	61											
VWCE	220001	broad.mit.edu	37	chr11	61034970	61034970	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacatgggtccagcacagaCgggaaggtctcgttgttata	11	9	13	8	2	1	2	0	0	1	2	3	3	2	3	1	3	1	3	1	3	3	3			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr11:61034970C>T	ENST00000335613.5	-	16	2315	c.1929G>A	c.(1927-1929)ccG>ccA	p.P643P	VWCE_ENST00000535710.1_Silent_p.P108P	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	643	VWFC 5.					extracellular region	calcium ion binding	p.P643P(1)		biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						CCAGCACAGACGGGAAGGTCT	0.597													40	83					0	0	0.080422	0	0	T	61034970	C	T	61034970	2	4	1	1	0	0	0	0	0	0	0	1	17305	523	19	1		1	VWCE	11	61034970	Silent	SNP	C	TCGA-CH-5737-01A-11D-1576-08	2827704	61034970	73971546	62	62											
FERMT3	83706	broad.mit.edu	37	chr11	63978262	63978262	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgcgcactgcgcctccgtGccagcttctcccagcccctc	3	7	9	22	4	1	0	0	0	1	0	4	0	2	0	7	0	4	2	7	0	0	1			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr11:63978262G>T	ENST00000279227.5	+	3	435	c.340G>T	c.(340-342)Gcc>Tcc	p.A114S	FERMT3_ENST00000345728.5_Missense_Mutation_p.A114S	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	114					integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding	p.A114S(2)		breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						GCGCCTCCGTGCCAGCTTCTC	0.667													6	192					0.00198382	0.00215701	0.02938	1	0	T	63978262	G	T	63978262	3	4	1	1	0	0	0	0	1	0	0	0	5852	1319	46	4	346	4	FERMT3	11	63978262	Missense_Mutation	SNP	G	TCGA-CH-5737-01A-11D-1576-08	2943292	63978262	71028254	63	63											
TIGD3	220359	broad.mit.edu	37	chr11	65123663	65123663	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggctggctggtccgctggaaAcgccgaaacaacgtcggctt	8	7	14	12	5	0	0	0	0	0	0	2	2	1	1	2	5	3	4	2	5	3	1			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr11:65123663A>G	ENST00000309880.5	+	2	591	c.384A>G	c.(382-384)aaA>aaG	p.K128K		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	128	HTH CENPB-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	p.K128K(1)		endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						TCCGCTGGAAACGCCGAAACA	0.657													7	62					0	0	0.047766	0	0	G	65123663	A	G	65123663	2	3	1	1	0	0	0	0	0	0	0	1	15957	40	2	3		3	TIGD3	11	65123663	Silent	SNP	A	TCGA-CH-5737-01A-11D-1576-08	1145401	65123663	69882853	64	64											
DPP3	10072	broad.mit.edu	37	chr11	66259193	66259193	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atcgggttcatcgagagctaCcgcgacccctttggttcccg	6	10	11	14	5	1	1	1	0	0	1	4	3	2	1	4	2	2	3	4	2	1	4			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr11:66259193C>T	ENST00000532677.1	+	9	1412	c.1011C>T	c.(1009-1011)taC>taT	p.Y337Y	DPP3_ENST00000541961.1_Silent_p.Y318Y|DPP3_ENST00000531863.1_Silent_p.Y338Y|DPP3_ENST00000530165.1_Silent_p.Y288Y|DPP3_ENST00000360510.2_Silent_p.Y318Y|DPP3_ENST00000453114.1_Silent_p.Y318Y	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	318					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity	p.Y318Y(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						TCGAGAGCTACCGCGACCCCT	0.612													6	390					0	0	0.02938	0	0	T	66259193	C	T	66259193	2	4	1	1	0	0	0	0	0	0	0	1	4754	518	18	2		2	DPP3	11	66259193	Silent	SNP	C	TCGA-CH-5737-01A-11D-1576-08	1135530	66259193	68747323	65	65											
KRTAP5-11	440051	broad.mit.edu	37	chr11	71293806	71293806	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccacagcccccacagccAgagccacagcccccactgcc	10	1	8	22	0	0	1	0	0	0	1	0	2	0	1	8	0	6	0	8	0	0	0			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr11:71293806A>T	ENST00000398530.1	-	1	115	c.78T>A	c.(76-78)tcT>tcA	p.S26S	KRTAP5-11_ENST00000526239.1_Intron|AP000867.1_ENST00000343767.3_Intron	NM_001005405.2	NP_001005405.1	Q6L8G4	KR511_HUMAN	keratin associated protein 5-11	26						keratin filament		p.S26S(1)		endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CCCCACAGCCAGAGCCACAGC	0.637													8	32					0	0	0.105934	0	0	T	71293806	A	T	71293806	2	4	1	1	0	0	0	0	0	0	0	1	8600	175	7	5		5	KRTAP5-11	11	71293806	Silent	SNP	A	TCGA-CH-5737-01A-11D-1576-08	5034613	71293806	63712710	66	66											
DYNC2H1	79659	broad.mit.edu	37	chr11	103090670	103090670	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgagcaaaaaacagaactTgaaagactgaagcacagaat	21	5	9	6	0	0	6	0	3	0	3	0	6	0	6	0	0	4	2	0	0	7	1			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr11:103090670T>G	ENST00000375735.2	+	56	9003	c.8859T>G	c.(8857-8859)ctT>ctG	p.L2953L	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Silent_p.L2953L	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2953	Stalk (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	p.L386L(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AAACAGAACTTGAAAGACTGA	0.259													3	8					0	0	0.115264	0	0	G	103090670	T	G	103090670	2	3	1	1	0	0	0	0	0	0	0	1	4872	1799	63	5		5	DYNC2H1	11	103090670	Silent	SNP	T	TCGA-CH-5737-01A-11D-1576-08	31796864	103090670	31915846	67	67											
ATM	472	broad.mit.edu	37	chr11	108205768	108205768	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagaatttcgcttagcaggaGgtgtaaatttaccaaaaata	16	11	8	6	1	0	1	0	0	0	1	1	2	0	2	1	2	2	3	1	2	8	6			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr11:108205768G>A	ENST00000278616.4	+	55	8468	c.8083G>A	c.(8083-8085)Ggt>Agt	p.G2695S	ATM_ENST00000452508.2_Missense_Mutation_p.G2695S|C11orf65_ENST00000525729.1_Intron	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2695			G -> A (in T-prolymphocytic leukemia and B-cell chronic lymphocytic leukemia).		cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.G2695S(4)|p.G2695C(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		CTTAGCAGGAGGTGTAAATTT	0.398			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			28	185					0	0	0.108266	0	0	A	108205768	G	A	108205768	3	1	1	1	0	0	0	0	1	0	0	0	1108	1000	35	2	8297	2	ATM	11	108205768	Missense_Mutation	SNP	G	TCGA-CH-5737-01A-11D-1576-08	5115098	108205768	26800748	68	68											
SLC4A8	9498	broad.mit.edu	37	chr12	51883662	51883662	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcccaagttcctgggcatccGagaacagagagtgacaggcc	11	5	13	12	1	0	3	0	1	0	2	2	5	2	3	4	2	1	2	4	2	2	1			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr12:51883662G>A	ENST00000453097.2	+	19	2844	c.2627G>A	c.(2626-2628)cGa>cAa	p.R876Q	SLC4A8_ENST00000358657.3_Missense_Mutation_p.R903Q	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	876					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		CTGGGCATCCGAGAACAGAGA	0.473													5	329					0	0	0.021553	0	0	A	51883662	G	A	51883662	3	1	1	1	0	0	0	0	1	0	0	0	14714	1058	37	1	2701	1	SLC4A8	12	51883662	Missense_Mutation	SNP	G	TCGA-CH-5737-01A-11D-1576-08		51883662	81968233	69	69											
KIF5A	3798	broad.mit.edu	37	chr12	57962799	57962799	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacgaggcaaagaatatcaaCaagtcactgtcagctctggg	14	7	11	9	1	4	1	3	0	1	1	4	3	4	1	0	2	2	2	0	2	5	1			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr12:57962799C>T	ENST00000455537.2	+	9	1042	c.768C>T	c.(766-768)aaC>aaT	p.N256N	KIF5A_ENST00000286452.5_Silent_p.N167N	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	256	Kinesin-motor.|Microtubule-binding.		Missing (in SPG10).|N -> S (in SPG10; slightly decreases microtubule affinity; reduces gliding velocity; reduces microtubule-dependent ATP turnover).		blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	p.N256N(1)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						AGAATATCAACAAGTCACTGT	0.557													16	97					0	0	0.160694	0	0	T	57962799	C	T	57962799	2	4	1	1	0	0	0	0	0	0	0	1	8347	477	17	2		2	KIF5A	12	57962799	Silent	SNP	C	TCGA-CH-5737-01A-11D-1576-08	6079137	57962799	75889096	70	70											
HELB	92797	broad.mit.edu	37	chr12	66696411	66696411	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcgagtccgtacctgcgcCaacttcagggacctctgctc	6	9	11	15	3	2	0	1	0	1	0	5	2	3	1	4	2	4	2	4	2	2	2			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr12:66696411C>A	ENST00000247815.4	+	1	87	c.28C>A	c.(28-30)Caa>Aaa	p.Q10K		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	10					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity	p.Q10K(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		GTACCTGCGCCAACTTCAGGG	0.557													6	116					5.18039e-06	5.91428e-06	0.038147	1	0	A	66696411	C	A	66696411	3	1	1	1	0	0	0	0	1	0	0	0	7086	595	21	4	30	4	HELB	12	66696411	Missense_Mutation	SNP	C	TCGA-CH-5737-01A-11D-1576-08	8733612	66696411	67155484	71	71											
GZMH	2999	broad.mit.edu	37	chr14	25076555	25076555	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctggcttcacctgggcctTgctgctaggtagcctgagag	5	10	13	13	0	1	1	1	1	0	1	1	2	1	1	4	3	3	4	4	3	2	4	rs144759599		TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr14:25076555T>G	ENST00000216338.4	-	4	441	c.397A>C	c.(397-399)Aag>Cag	p.K133Q	RP11-104E19.1_ENST00000555300.1_RNA|GZMH_ENST00000557220.2_Intron|GZMH_ENST00000382548.4_Intron|RP11-104E19.1_ENST00000557736.1_RNA	NM_033423.3	NP_219491.1	P20718	GRAH_HUMAN	granzyme H (cathepsin G-like 2, protein h-CCPX)	133	Peptidase S1.				apoptosis|cytolysis|proteolysis	cytoplasm	serine-type endopeptidase activity	p.K133Q(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)	12				GBM - Glioblastoma multiforme(265;0.0267)		ACCTGGGCCTTGCTGCTAGGT	0.572													7	116					0	0	0.069234	0	0	G	25076555	T	G	25076555	3	3	1	1	0	0	0	0	1	0	0	0	6958	1821	63	5	351	5	GZMH	14	25076555	Missense_Mutation	SNP	T	TCGA-CH-5737-01A-11D-1576-08		25076555	82272985	72	72											
G2E3	55632	broad.mit.edu	37	chr14	31066642	31066642	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtaggttcaagcaataaatgCgggagtgtttttctttaggt	10	15	12	4	1	2	0	1	0	1	0	2	1	2	1	0	3	2	4	0	3	6	7			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr14:31066642C>T	ENST00000206595.6	+	7	699	c.545C>T	c.(544-546)gCg>gTg	p.A182V	G2E3_ENST00000544007.1_3'UTR|G2E3_ENST00000438909.2_Missense_Mutation_p.A136V|G2E3_ENST00000553504.1_Missense_Mutation_p.A212V	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	182					apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding	p.A182V(1)		endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						GCAATAAATGCGGGAGTGTTT	0.313													9	380					0	0	0.058154	0	0	T	31066642	C	T	31066642	3	4	1	1	0	0	0	0	1	0	0	0	6175	768	27	1	567	1	G2E3	14	31066642	Missense_Mutation	SNP	C	TCGA-CH-5737-01A-11D-1576-08	5990087	31066642	76282898	73	73											
FOXA1	3169	broad.mit.edu	37	chr14	38061220	38061225	+	In_Frame_Del	DEL	CGTTCT	CGTTCT	-																															ctggcggcgcaagtagcagcCgttctcgaacatgttgccgg																										TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr14:38061220_38061225delCGTTCT	ENST00000250448.2	-	2	825_830	c.764_769delAGAACG	c.(763-771)ggc>g	p.ENG255del	FOXA1_ENST00000540786.1_In_Frame_Del_p.ENG222del|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	255					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		AAGTAGCAGCCGTTCTCGAACATGTT	0.694													12	24	---	---	---	---						-	38061225	CGTTCT	-	38061220	7	5	1	1	0	1	0	1	0	0	0	0	6022	652	23	0	653	0	FOXA1	14	38061220	In_Frame_Del	DEL	CGTTCT	TCGA-CH-5737-01A-11D-1576-08	6994578	38061220	69288320	74	74											
OTX2	5015	broad.mit.edu	37	chr14	57268617	57268617	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccctgggtggaaagagaagCtggggactgattgagatggc	10	8	17	6	0	0	3	0	2	0	2	1	7	1	5	1	5	1	1	1	5	2	1			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr14:57268617C>G	ENST00000339475.5	-	5	1006	c.730G>C	c.(730-732)Gct>Cct	p.A244P	OTX2_ENST00000554788.1_3'UTR|OTX2_ENST00000555006.1_Missense_Mutation_p.A236P|OTX2_ENST00000408990.3_Missense_Mutation_p.A236P	NM_001270523.1|NM_001270524.1|NM_001270525.1|NM_021728.3	NP_001257452.1|NP_001257453.1|NP_001257454.1|NP_068374.1	P32243	OTX2_HUMAN	orthodenticle homeobox 2	236					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding	p.A244P(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					GAAAGAGAAGCTGGGGACTGA	0.502													66	128					0	0	0.139131	0	0	G	57268617	C	G	57268617	3	3	1	1	0	0	0	0	1	0	0	0	11368	797	28	4	167	4	OTX2	14	57268617	Missense_Mutation	SNP	C	TCGA-CH-5737-01A-11D-1576-08	19207397	57268617	50080923	75	75											
RYR3	6263	broad.mit.edu	37	chr15	33990173	33990173	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgatggaggtgatggtgaaCgtgttgggtacagagaaatc	11	10	17	3	1	0	4	0	3	0	1	1	6	0	5	0	4	2	2	0	4	3	2			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr15:33990173C>T	ENST00000389232.4	+	40	6295	c.6225C>T	c.(6223-6225)aaC>aaT	p.N2075N	RYR3_ENST00000415757.3_Silent_p.N2075N	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2075	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.N2075N(2)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGATGGTGAACGTGTTGGGTA	0.493													47	212					0	0	0.139131	0	0	T	33990173	C	T	33990173	2	4	1	1	0	0	0	0	0	0	0	1	13822	535	19	1		1	RYR3	15	33990173	Silent	SNP	C	TCGA-CH-5737-01A-11D-1576-08		33990173	68541219	76	76											
TLN2	83660	broad.mit.edu	37	chr15	62978869	62978869	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggcaagaacaagctggtGcctcgcctgctggggatcac	11	6	13	11	1	1	1	1	0	0	1	2	2	1	2	2	4	4	3	2	4	4	0			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr15:62978869G>T	ENST00000561311.1	+	11	1217	c.987G>T	c.(985-987)gtG>gtT	p.V329V	TLN2_ENST00000306829.6_Silent_p.V329V|RP11-625H11.2_ENST00000559589.1_RNA			Q9Y4G6	TLN2_HUMAN	talin 2	329	FERM.|Interaction with PIP5K1C (By similarity).				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	p.V329V(1)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						ACAAGCTGGTGCCTCGCCTGC	0.537													12	31					2.80697e-09	3.2868e-09	0.080935	1	0	T	62978869	G	T	62978869	2	4	1	1	0	0	0	0	0	0	0	1	16008	1306	46	4		4	TLN2	15	62978869	Silent	SNP	G	TCGA-CH-5737-01A-11D-1576-08	28988696	62978869	39552523	77	77											
LRRK1	79705	broad.mit.edu	37	chr15	101593153	101593153	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggagaacagcaagctggAgcacagcgaggacgagggca	13	2	16	10	2	0	1	0	0	0	1	0	6	0	3	1	4	5	4	1	4	2	0			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr15:101593153A>G	ENST00000284395.5	+	26	4107	c.3707A>G	c.(3706-3708)gAg>gGg	p.E1236G	RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000388948.3_Missense_Mutation_p.E1239G			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1239					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.E1239G(1)|p.E1251G(1)		breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AGCAAGCTGGAGCACAGCGAG	0.692													3	60					0	0	0.115264	0	0	G	101593153	A	G	101593153	3	3	1	1	0	0	0	0	1	0	0	0	9077	304	11	3	3810	3	LRRK1	15	101593153	Missense_Mutation	SNP	A	TCGA-CH-5737-01A-11D-1576-08	38614284	101593153	938239	78	78											
OR2C1	4993	broad.mit.edu	37	chr16	3406160	3406160	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctccttggaccttgctttcGctactagttcagtcccccaa	6	13	6	16	1	1	0	1	0	0	0	4	1	3	1	5	1	2	3	5	1	3	6			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr16:3406160G>A	ENST00000304936.2	+	1	272	c.220G>A	c.(220-222)Gct>Act	p.A74T		NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C, member 1	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A74T(1)		kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						CCTTGCTTTCGCTACTAGTTC	0.522													40	297					0	0	0.086207	0	0	A	3406160	G	A	3406160	3	1	1	1	0	0	0	0	1	0	0	0	11040	1087	38	1	222	1	OR2C1	16	3406160	Missense_Mutation	SNP	G	TCGA-CH-5737-01A-11D-1576-08		3406160	86948593	79	79											
SMG1	23049	broad.mit.edu	37	chr16	18866183	18866183	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctagcaaattttgctgctgtTagacctaattccatgagatg	11	14	8	8	0	0	2	0	1	0	2	1	3	1	2	2	0	3	4	2	0	4	6			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr16:18866183T>C	ENST00000446231.2	-	30	4690	c.4278A>G	c.(4276-4278)ctA>ctG	p.L1426L	SMG1_ENST00000389467.3_Silent_p.L1426L			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1426	FAT.|Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TTGCTGCTGTTAGACCTAATT	0.438													6	257					0	0	0.021553	0	0	C	18866183	T	C	18866183	2	2	1	1	0	0	0	0	0	0	0	1	14849	1741	61	3		3	SMG1	16	18866183	Silent	SNP	T	TCGA-CH-5737-01A-11D-1576-08	15460023	18866183	71488570	80	80											
PDILT	204474	broad.mit.edu	37	chr16	20370791	20370791	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatgttctccagctcaggCgactgctgttcaggtaaccc	7	11	10	13	1	4	0	3	0	1	0	5	1	4	0	2	2	3	5	2	2	1	3			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr16:20370791C>T	ENST00000302451.4	-	12	1853	c.1605G>A	c.(1603-1605)tcG>tcA	p.S535S		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	535					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	p.S535S(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						CCAGCTCAGGCGACTGCTGTT	0.502													12	468					0	0	0.062417	0	0	T	20370791	C	T	20370791	2	4	1	1	0	0	0	0	0	0	0	1	11721	755	27	1		1	PDILT	16	20370791	Silent	SNP	C	TCGA-CH-5737-01A-11D-1576-08	1504608	20370791	69983962	81	81											
GNAO1	2775	broad.mit.edu	37	chr16	56362633	56362633	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctgccatgatgcggctcTggggcgactcaggaatccaa	8	10	12	11	2	3	1	1	1	2	0	4	3	4	2	2	4	2	1	2	4	2	1			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr16:56362633T>C	ENST00000262494.7	+	4	654	c.394T>C	c.(394-396)Tgg>Cgg	p.W132R	GNAO1_ENST00000262493.6_Missense_Mutation_p.W132R	NM_138736.2	NP_620073.2	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O	132					dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity	p.W132R(3)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				GATGCGGCTCTGGGGCGACTC	0.587													16	91					0	0	0.132662	0	0	C	56362633	T	C	56362633	3	2	1	1	0	0	0	0	1	0	0	0	6550	1580	55	3	408	3	GNAO1	16	56362633	Missense_Mutation	SNP	T	TCGA-CH-5737-01A-11D-1576-08	35991842	56362633	33992120	82	82											
DPEP1	1800	broad.mit.edu	37	chr16	89703762	89703762	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcgcaagccggcgcaacGtgcctgacgacgtcctgagg	7	6	15	13	6	0	2	0	2	0	0	1	3	1	2	3	2	4	2	3	2	2	0			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr16:89703762G>A	ENST00000393092.3	+	7	1033	c.742G>A	c.(742-744)Gtg>Atg	p.V248M	DPEP1_ENST00000261615.4_Missense_Mutation_p.V248M|DPEP1_ENST00000421184.1_Missense_Mutation_p.V248M	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)	248					proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding	p.V248M(1)		large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	CCGGCGCAACGTGCCTGACGA	0.682													3	42					0	0	0.150653	0	0	A	89703762	G	A	89703762	3	1	1	1	0	0	0	0	1	0	0	0	4740	1145	40	1	764	1	DPEP1	16	89703762	Missense_Mutation	SNP	G	TCGA-CH-5737-01A-11D-1576-08	33341129	89703762	650991	83	83											
KCNH4	23415	broad.mit.edu	37	chr17	40328219	40328219	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggataaggccgtcccagaTggccttggagacgctgtagt	9	8	15	9	2	0	2	0	0	0	2	1	5	1	3	3	4	0	2	3	4	2	3			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr17:40328219T>G	ENST00000264661.3	-	5	1014	c.682A>C	c.(682-684)Atc>Ctc	p.I228L	KCNH4_ENST00000607371.1_Missense_Mutation_p.I228L	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	228					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CCGTCCCAGATGGCCTTGGAG	0.592													3	230					0	0	0.115264	0	0	G	40328219	T	G	40328219	3	3	1	1	0	0	0	0	1	0	0	0	8078	1464	51	5	2419	5	KCNH4	17	40328219	Missense_Mutation	SNP	T	TCGA-CH-5737-01A-11D-1576-08		40328219	40866991	84	84											
SKAP1	8631	broad.mit.edu	37	chr17	46262165	46262165	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgcaggtggggggccatccGtacaccgtagcccttaatga	8	8	13	12	3	0	1	0	1	0	0	2	1	1	1	4	4	2	3	4	4	3	3			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr17:46262165G>A	ENST00000336915.6	-	7	556	c.487C>T	c.(487-489)Cgg>Tgg	p.R163W	SKAP1_ENST00000584924.1_Missense_Mutation_p.R163W	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1	163	PH.				positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway	cytoplasm|nucleus|plasma membrane	antigen binding|protein kinase binding|SH2 domain binding	p.R163W(1)		large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						GGGGCCATCCGTACACCGTAG	0.542													29	165					0	0	0.163468	0	0	A	46262165	G	A	46262165	3	1	1	1	0	0	0	0	1	0	0	0	14410	1144	40	1	616	1	SKAP1	17	46262165	Missense_Mutation	SNP	G	TCGA-CH-5737-01A-11D-1576-08	5933946	46262165	34933045	85	85											
KIF2B	84643	broad.mit.edu	37	chr17	51900688	51900688	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccccgcccttatcccccttGgctctggcgccctcttcggc	1	10	8	22	3	2	0	0	0	2	0	4	0	3	0	6	3	0	1	6	3	1	3			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr17:51900688G>T	ENST00000268919.4	+	1	450	c.294G>T	c.(292-294)ttG>ttT	p.L98F		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	98					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.L98F(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TATCCCCCTTGGCTCTGGCGC	0.587													6	260					0.00198382	0.00215701	0.02938	1	0	T	51900688	G	T	51900688	3	4	1	1	0	0	0	0	1	0	0	0	8340	1339	47	4	296	4	KIF2B	17	51900688	Missense_Mutation	SNP	G	TCGA-CH-5737-01A-11D-1576-08	5638523	51900688	29294522	86	86											
TRIM25	7706	broad.mit.edu	37	chr17	54969322	54969322	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcaccaggaggcgctgttGcggccgagcctgctttctgg	5	8	15	13	4	1	0	0	0	1	0	1	2	1	1	3	4	3	4	3	4	0	2			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr17:54969322G>A	ENST00000316881.4	-	9	1681	c.1632C>T	c.(1630-1632)cgC>cgT	p.R544R	TRIM25_ENST00000537230.1_Silent_p.R544R	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN	tripartite motif containing 25	544	B30.2/SPRY.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding	p.R544R(2)		breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					AGGCGCTGTTGCGGCCGAGCC	0.602													37	94					0	0	0.092188	0	0	A	54969322	G	A	54969322	2	1	1	1	0	0	0	0	0	0	0	1	16560	1306	46	2		2	TRIM25	17	54969322	Silent	SNP	G	TCGA-CH-5737-01A-11D-1576-08	3068634	54969322	26225888	87	87											
FSCN2	25794	broad.mit.edu	37	chr17	79496338	79496338	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggaggagagtcacccacagGtggtgctggtggctgccaac	8	7	16	10	0	1	1	1	0	0	1	1	3	1	2	2	6	3	2	2	6	1	0			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr17:79496338G>T	ENST00000417245.2	+	1	917	c.781G>T	c.(781-783)Gtg>Ttg	p.V261L	FSCN2_ENST00000334850.7_Missense_Mutation_p.V261L	NM_001077182.2|NM_012418.3	NP_001070650.1|NP_036550.1	O14926	FSCN2_HUMAN	fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)	261					actin filament bundle assembly|anatomical structure morphogenesis|visual perception	actin cytoskeleton|cytoplasm|stereocilium	actin filament binding|protein binding, bridging	p.V261L(2)		endometrium(1)|lung(1)|prostate(1)|urinary_tract(1)	4	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			TCACCCACAGGTGGTGCTGGT	0.662													4	7					0.150653	0.158766	0.150653	1	0	T	79496338	G	T	79496338	3	4	1	1	0	0	0	0	1	0	0	0	6103	1261	44	4	783	4	FSCN2	17	79496338	Missense_Mutation	SNP	G	TCGA-CH-5737-01A-11D-1576-08	24527016	79496338	1698872	88	88											
PSMA8	143471	broad.mit.edu	37	chr18	23759096	23759096	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagaaatcaacctttgaaggTaagtcattaaccaaagagga	19	8	8	6	0	2	3	2	1	0	2	2	4	2	4	2	2	2	1	2	2	7	3			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr18:23759096T>C	ENST00000308268.6	+	6	767		c.e6+2		PSMA8_ENST00000343848.6_Splice_Site|PSMA8_ENST00000415576.2_Splice_Site	NM_001025096.1|NM_144662.2	NP_001020267.1|NP_653263.2	Q8TAA3	PSA7L_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 8						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	threonine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2)	16	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)			CCTTTGAAGGTAAGTCATTAA	0.313													3	172					0	0	0.115264	0	0	C	23759096	T	C	23759096	5	2	1	1	0	0	0	0	0	0	1	0	12722	1652	57	3	702	3	PSMA8	18	23759096	Splice_Site	SNP	T	TCGA-CH-5737-01A-11D-1576-08		23759096	54318152	89	89											
PIP5K1C	23396	broad.mit.edu	37	chr19	3641788	3641788	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgcagatcctcttccgCgggtggctcctcctgcggcc	2	10	12	17	3	1	1	0	0	1	1	5	1	5	1	5	3	3	3	5	3	0	1			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr19:3641788C>T	ENST00000335312.3	-	15	1790	c.1702G>A	c.(1702-1704)Gcg>Acg	p.A568T	PIP5K1C_ENST00000539785.1_Missense_Mutation_p.A568T|PIP5K1C_ENST00000537021.1_Missense_Mutation_p.A568T|PIP5K1C_ENST00000589578.1_Missense_Mutation_p.A568T	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	568					axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding	p.A568T(1)		large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		TCCTCTTCCGCGGGTGGCTCC	0.637													28	44					0	0	0.116897	0	0	T	3641788	C	T	3641788	3	4	1	1	0	0	0	0	1	0	0	0	11989	768	27	1	320	1	PIP5K1C	19	3641788	Missense_Mutation	SNP	C	TCGA-CH-5737-01A-11D-1576-08		3641788	55487195	90	90											
UNC13A	23025	broad.mit.edu	37	chr19	17780382	17780382	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaagggtagctcaaagcgcGtgtccaggaggatgcggtgg	9	7	17	8	3	1	0	1	0	0	0	2	2	2	2	1	5	3	2	1	5	3	2			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr19:17780382G>A	ENST00000428389.2	-	6	637	c.638C>T	c.(637-639)aCg>aTg	p.T213M	UNC13A_ENST00000252773.7_Missense_Mutation_p.T125M|UNC13A_ENST00000552293.1_Missense_Mutation_p.T125M|UNC13A_ENST00000551649.1_Missense_Mutation_p.T125M|UNC13A_ENST00000519716.2_Missense_Mutation_p.T125M|UNC13A_ENST00000550896.1_Missense_Mutation_p.T125M			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	125					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.T213M(2)|p.T125M(2)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CTCAAAGCGCGTGTCCAGGAG	0.612													3	64					0	0	0.150653	0	0	A	17780382	G	A	17780382	3	1	1	1	0	0	0	0	1	0	0	0	17044	1145	40	1	4889	1	UNC13A	19	17780382	Missense_Mutation	SNP	G	TCGA-CH-5737-01A-11D-1576-08	14138594	17780382	41348601	91	91											
ZNF676	163223	broad.mit.edu	37	chr19	22364321	22364321	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgtcatatcttctcaatatCattttttggaaagaatcttc	11	19	4	7	0	5	1	3	0	3	1	7	2	5	2	0	1	0	0	0	1	5	8			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr19:22364321C>T	ENST00000397121.2	-	3	515	c.198G>A	c.(196-198)atG>atA	p.M66I		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	66					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.M66I(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TTCTCAATATCATTTTTTGGA	0.303													5	148					0	0	0.014758	0	0	T	22364321	C	T	22364321	3	4	1	1	0	0	0	0	1	0	0	0	18140	826	29	2	1572	2	ZNF676	19	22364321	Missense_Mutation	SNP	C	TCGA-CH-5737-01A-11D-1576-08	4583939	22364321	36764662	92	92											
ZNF98	148198	broad.mit.edu	37	chr19	22585674	22585674	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgatcaggtctggcttaGaggcagcaatacctgtttta	10	12	12	7	0	2	2	1	1	1	1	2	2	2	2	1	4	2	4	1	4	4	4			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr19:22585674G>T	ENST00000357774.5	-	3	291	c.170C>A	c.(169-171)tCt>tAt	p.S57Y	ZNF98_ENST00000601553.1_Missense_Mutation_p.S57Y	NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	57	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S57Y(2)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				GTCTGGCTTAGAGGCAGCAAT	0.393													34	130					3.03874e-20	3.68414e-20	0.183431	1	0	T	22585674	G	T	22585674	3	4	1	1	0	0	0	0	1	0	0	0	18245	942	33	4	1556	4	ZNF98	19	22585674	Missense_Mutation	SNP	G	TCGA-CH-5737-01A-11D-1576-08	221353	22585674	36543309	93	93											
ZNF492	57615	broad.mit.edu	37	chr19	22836734	22836734	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaacaggtattgctgcctCtaagccagacctgatcacct	12	10	7	12	0	2	2	1	1	1	1	2	2	2	2	4	1	4	2	4	1	4	4			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr19:22836734C>A	ENST00000456783.2	+	3	291	c.47C>A	c.(46-48)tCt>tAt	p.S16Y		NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	16	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S16Y(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				ATTGCTGCCTCTAAGCCAGAC	0.398													14	151					3.8784e-16	4.58053e-16	0.062417	1	0	A	22836734	C	A	22836734	3	1	1	1	0	0	0	0	1	0	0	0	18000	913	32	4	53	4	ZNF492	19	22836734	Missense_Mutation	SNP	C	TCGA-CH-5737-01A-11D-1576-08	251060	22836734	36292249	94	94											
ZNF536	9745	broad.mit.edu	37	chr19	31039026	31039026	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaagcttctctgttcatcAggccagacatcctgaggggg	9	9	12	11	0	3	2	2	1	1	1	5	2	4	2	2	3	1	3	2	3	1	2			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr19:31039026A>G	ENST00000355537.3	+	4	2647	c.2500A>G	c.(2500-2502)Agg>Ggg	p.R834G		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	834					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.R834G(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TCTGTTCATCAGGCCAGACAT	0.587													5	225					0	0	0.02938	0	0	G	31039026	A	G	31039026	3	3	1	1	0	0	0	0	1	0	0	0	18031	179	7	3	2510	3	ZNF536	19	31039026	Missense_Mutation	SNP	A	TCGA-CH-5737-01A-11D-1576-08	8202292	31039026	28089957	95	95											
GPI	2821	broad.mit.edu	37	chr19	34887247	34887247	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatacatcaccaaatctggAacccgtgtggaccaccagac	15	6	7	13	1	2	1	1	0	1	1	2	3	2	3	4	2	2	0	4	2	4	1			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr19:34887247A>G	ENST00000415930.3	+	13	1307	c.1137A>G	c.(1135-1137)ggA>ggG	p.G379G	GPI_ENST00000586425.1_Silent_p.G368G|GPI_ENST00000356487.5_Silent_p.G368G	NM_001184722.1	NP_001171651.1	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	368					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					CCAAATCTGGAACCCGTGTGG	0.502													4	209					0	0	0.014758	0	0	G	34887247	A	G	34887247	2	3	1	1	0	0	0	0	0	0	0	1	6651	233	9	3		3	GPI	19	34887247	Silent	SNP	A	TCGA-CH-5737-01A-11D-1576-08	3848221	34887247	24241736	96	96											
SUPT5H	6829	broad.mit.edu	37	chr19	39959750	39959750	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaagccaacactctctgAgctggaaaagtttgaggacc	12	9	11	9	0	1	3	0	3	1	0	2	5	1	5	2	2	3	2	2	2	4	1			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr19:39959750A>G	ENST00000599117.1	+	16	1542	c.1175A>G	c.(1174-1176)gAg>gGg	p.E392G	SUPT5H_ENST00000432763.2_Missense_Mutation_p.E392G|SUPT5H_ENST00000359191.6_Missense_Mutation_p.E388G|SUPT5H_ENST00000402194.2_Missense_Mutation_p.E388G|SUPT5H_ENST00000598725.1_Missense_Mutation_p.E392G			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	392	Interaction with RNA polymerase II.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity	p.E392G(1)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			ACACTCTCTGAGCTGGAAAAG	0.567													17	115					0	0	0.062417	0	0	G	39959750	A	G	39959750	3	3	1	1	0	0	0	0	1	0	0	0	15455	304	11	3	1229	3	SUPT5H	19	39959750	Missense_Mutation	SNP	A	TCGA-CH-5737-01A-11D-1576-08	5072503	39959750	19169233	97	97											
PSG8	0	broad.mit.edu	37	chr19	43259290	43259290	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taccctgggactgaccgggaGgctctgaccatttagccacc	8	8	11	14	1	1	2	0	2	1	0	1	4	1	4	5	3	2	1	5	3	2	3			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr19:43259290G>T	ENST00000404209.4	-	4	934	c.838C>A	c.(838-840)Ctc>Atc	p.L280I	PSG8_ENST00000600709.1_Intron|PSG8_ENST00000306511.4_Missense_Mutation_p.L280I|PSG8_ENST00000401467.2_Missense_Mutation_p.L187I|PSG8_ENST00000406636.3_Missense_Mutation_p.L158I	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	280	Ig-like C2-type 2.					extracellular region		p.L280I(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				CTGACCGGGAGGCTCTGACCA	0.448													95	584					6.01484e-32	7.42372e-32	0.139131	1	0	T	43259290	G	T	43259290	3	4	1	1	0	0	0	0	1	0	0	0	12710	1000	35	4	471	4	PSG8	19	43259290	Missense_Mutation	SNP	G	TCGA-CH-5737-01A-11D-1576-08	3299540	43259290	15869693	98	98											
ZC3H4	23211	broad.mit.edu	37	chr19	47589711	47589711	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccatagagcctctgcccctgCctcggctgcccctgcccatg	4	8	9	20	1	1	1	0	0	1	1	2	1	1	1	8	1	5	1	8	1	1	1	rs653615		TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr19:47589711C>T	ENST00000253048.5	-	6	837	c.800G>A	c.(799-801)gGc>gAc	p.G267D	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	267	Gly-rich.						nucleic acid binding|zinc ion binding	p.G267D(1)		NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		TCTGCCCCTGCCTCGGCTGCC	0.667													4	81					0	0	0.150653	0	0	T	47589711	C	T	47589711	3	4	1	1	0	0	0	0	1	0	0	0	17629	739	26	2	3151	2	ZC3H4	19	47589711	Missense_Mutation	SNP	C	TCGA-CH-5737-01A-11D-1576-08	4330421	47589711	11539272	99	99											
C20orf194	25943	broad.mit.edu	37	chr20	3251194	3251194	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtgactggtgaataccaCgttactcaccaggcctggga	9	9	13	10	1	1	2	1	2	0	0	1	3	1	3	3	4	2	1	3	4	3	2			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr20:3251194C>T	ENST00000252032.9	-	30	2732	c.2665G>A	c.(2665-2667)Gtg>Atg	p.V889M	C20orf194_ENST00000453730.2_3'UTR	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	889								p.V889M(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						GTGAATACCACGTTACTCACC	0.557													11	103					0	0	0.069234	0	0	T	3251194	C	T	3251194	3	4	1	1	0	0	0	0	1	0	0	0	2113	536	19	1	900	1	C20orf194	20	3251194	Missense_Mutation	SNP	C	TCGA-CH-5737-01A-11D-1576-08		3251194	59774326	100	100											
DDX27	55661	broad.mit.edu	37	chr20	47845307	47845307	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgtctgatttataaaccccgCcaggctccagtcacccgcgt	8	9	8	16	4	2	1	1	1	1	0	3	1	3	1	5	1	1	1	5	1	3	3			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr20:47845307C>T	ENST00000371764.4	+	8	864	c.855C>T	c.(853-855)cgC>cgT	p.R285R	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	285	Helicase ATP-binding.					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.R285R(2)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			ATAAACCCCGCCAGGCTCCAG	0.572													109	226					0	0	0.139131	0	0	T	47845307	C	T	47845307	2	4	1	1	0	0	0	0	0	0	0	1	4377	726	26	2		2	DDX27	20	47845307	Silent	SNP	C	TCGA-CH-5737-01A-11D-1576-08	44594113	47845307	15180213	101	101											
KCNG1	3755	broad.mit.edu	37	chr20	49620929	49620929	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccatctcgttctcgatgaCgtagagcaggggcgcgaaga	9	7	15	10	5	2	3	0	1	2	2	4	5	2	3	1	3	1	3	1	3	2	2			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr20:49620929C>T	ENST00000371571.4	-	3	1474	c.1189G>A	c.(1189-1191)Gtc>Atc	p.V397I	RP5-955M13.4_ENST00000424566.1_RNA|RP5-955M13.3_ENST00000506387.1_RNA	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	397						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.V397I(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						TTCTCGATGACGTAGAGCAGG	0.662													4	72					0	0	0.150653	0	0	T	49620929	C	T	49620929	3	4	1	1	0	0	0	0	1	0	0	0	8071	536	19	1	356	1	KCNG1	20	49620929	Missense_Mutation	SNP	C	TCGA-CH-5737-01A-11D-1576-08	1775622	49620929	13404591	102	102											
CTCFL	140690	broad.mit.edu	37	chr20	56099193	56099193	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctccttcaggcctttttcCggcatcaactcgagttcttt	5	16	6	14	2	3	0	2	0	1	0	7	1	6	0	4	2	1	2	4	2	1	5			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr20:56099193C>T	ENST00000426658.2	-	1	730	c.69G>A	c.(67-69)ccG>ccA	p.P23P	CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000243914.3_Silent_p.P23P|CTCFL_ENST00000429804.2_Silent_p.P23P|CTCFL_ENST00000423479.2_Silent_p.P23P|CTCFL_ENST00000422109.2_Silent_p.P23P|CTCFL_ENST00000422869.2_Silent_p.P23P|CTCFL_ENST00000433949.2_Silent_p.P23P|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000371196.2_Silent_p.P23P|CTCFL_ENST00000432255.2_Silent_p.P23P			Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	23					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	p.P23P(1)		NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			GGCCTTTTTCCGGCATCAACT	0.507													241	498					0	0	0.139131	0	0	T	56099193	C	T	56099193	2	4	1	1	0	0	0	0	0	0	0	1	4025	639	23	1		1	CTCFL	20	56099193	Silent	SNP	C	TCGA-CH-5737-01A-11D-1576-08	6478264	56099193	6926327	103	103											
BAGE2	85319	broad.mit.edu	37	chr21	11085429	11085470	+	RNA	DEL	ACCACCACCACCACCACCACCACCATCACCACTACCACTACC	ACCACCACCACCACCACCACCACCATCACCACTACCACTACC	-																															atgtgcataacaccaccactAccaccaccaccaccaccacc																								rs75467089	by1000genomes	TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr21:11085429_11085470delACCACCACCACCACCACCACCACCATCACCACTACCACTACC	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)		caccaccactaccaccaccaccaccaccaccaccatcaccactaccactaccaccaccacca	0.521													5	9	---	---	---	---						-	11085470	ACCACCACCACCACCACCACCACCATCACCACTACCACTACC	-	11085429	6	5	1	0	1	1	0	1	0	0	0	0	1290	406	14	0		0	BAGE2	21	11085429	RNA	DEL	ACCACCACCACCACCACCACCACCATCACCACTACCACTACC	TCGA-CH-5737-01A-11D-1576-08		11085429	37044466	104	104											
BAGE2	85319	broad.mit.edu	37	chr21	11085560	11085560	+	RNA	DEL	T	T	-																															accaccaccaccaccaccacTaccaccaccaccaccaccac																								rs147223908		TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr21:11085560delT	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)		ccaccaccactaccaccacca	0.592													3	5	---	---	---	---						-	11085560	T	-	11085560	6	5	1	0	1	1	0	1	0	0	0	0	1290	1537	53	0		0	BAGE2	21	11085560	RNA	DEL	T	TCGA-CH-5737-01A-11D-1576-08	131	11085560	37044335	105	105											
DYRK1A	1859	broad.mit.edu	37	chr21	38884778	38884778	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaggcaaggggctgatagaGaagagtcccccatgacagga	13	5	15	8	0	0	5	0	3	0	2	1	7	1	6	2	4	0	2	2	4	3	1			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr21:38884778G>C	ENST00000339659.3	+	11	3679	c.2209G>C	c.(2209-2211)Gaa>Caa	p.E737Q	DYRK1A_ENST00000455387.2_Missense_Mutation_p.E518Q|DYRK1A_ENST00000338785.3_3'UTR|DYRK1A_ENST00000398960.2_Missense_Mutation_p.E746Q	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	746					nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity	p.E746Q(1)		breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						GGCTGATAGAGAAGAGTCCCC	0.438													7	178					0	0	0.02938	0	0	C	38884778	G	C	38884778	3	2	1	1	0	0	0	0	1	0	0	0	4880	943	33	4	2362	4	DYRK1A	21	38884778	Missense_Mutation	SNP	G	TCGA-CH-5737-01A-11D-1576-08	27799218	38884778	9245117	106	106											
RFPL1	5988	broad.mit.edu	37	chr22	29837851	29837851	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcctctctgccagcacggtgCcgctgactttcctcttcgta	4	12	9	16	3	2	1	0	1	2	0	5	1	3	1	4	1	3	3	4	1	1	3			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr22:29837851C>T	ENST00000354373.2	+	2	903	c.694C>T	c.(694-696)Ccg>Tcg	p.P232S	RFPL1S_ENST00000461286.2_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	232	B30.2/SPRY.						zinc ion binding			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						CAGCACGGTGCCGCTGACTTT	0.522													4	163					0	0	0.014758	0	0	T	29837851	C	T	29837851	3	4	1	1	0	0	0	0	1	0	0	0	13305	739	26	2	700	2	RFPL1	22	29837851	Missense_Mutation	SNP	C	TCGA-CH-5737-01A-11D-1576-08		29837851	21466715	107	107											
PLXNB2	23654	broad.mit.edu	37	chr22	50716066	50716066	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggcatccatgaaggtcTgcgcgatgactgacagcgag	10	7	14	10	3	1	3	0	3	1	0	2	5	2	3	1	2	3	2	1	2	1	0			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chr22:50716066T>C	ENST00000449103.1	-	33	5290	c.5150A>G	c.(5149-5151)cAg>cGg	p.Q1717R	PLXNB2_ENST00000359337.4_Missense_Mutation_p.Q1717R			O15031	PLXB2_HUMAN	plexin B2	1717					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	p.Q1760R(1)		breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CATGAAGGTCTGCGCGATGAC	0.627													3	119					0	0	0.150653	0	0	C	50716066	T	C	50716066	3	2	1	1	0	0	0	0	1	0	0	0	12172	1580	55	3	386	3	PLXNB2	22	50716066	Missense_Mutation	SNP	T	TCGA-CH-5737-01A-11D-1576-08	20878215	50716066	588500	108	108											
TSPAN7	7102	broad.mit.edu	37	chrX	38540490	38540490	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctggtaactagtttcatggaGactaacatgggaatcatcgc	12	11	10	8	1	2	1	2	0	0	1	3	3	2	2	0	3	2	2	0	3	4	4			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chrX:38540490G>C	ENST00000378482.2	+	6	807	c.630G>C	c.(628-630)gaG>gaC	p.E210D	TM4SF2_ENST00000465127.1_Missense_Mutation_p.E240D|TSPAN7_ENST00000545599.1_Missense_Mutation_p.E184D|TSPAN7_ENST00000422612.2_Missense_Mutation_p.E236D|TSPAN7_ENST00000286824.6_Missense_Mutation_p.E227D	NM_004615.3	NP_004606.2	P41732	TSN7_HUMAN	tetraspanin 7	210					interspecies interaction between organisms	integral to plasma membrane		p.E210D(2)|p.E205D(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	11						GTTTCATGGAGACTAACATGG	0.478													59	105					0	0	0.139131	0	0	C	38540490	G	C	38540490	3	2	1	1	0	0	0	0	1	0	0	0	16713	933	33	4	652	4	TSPAN7	23	38540490	Missense_Mutation	SNP	G	TCGA-CH-5737-01A-11D-1576-08		38540490	116730070	109	109											
ABCB7	22	broad.mit.edu	37	chrX	74318818	74318818	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagcgaaatggcaactctagCtcgtagatctggcctgtctt	9	11	10	11	2	3	1	0	0	3	1	4	2	3	1	1	2	3	3	1	2	4	3			TCGA-CH-5737-01A-11D-1576-08	TCGA-CH-5737-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	993b5404-5434-45a7-8e8b-e099c11884bd	ba42b097-f2e5-46f4-b7fe-1209b3d5af9b	g.chrX:74318818C>A	ENST00000253577.3	-	4	439	c.415G>T	c.(415-417)Gct>Tct	p.A139S	ABCB7_ENST00000373394.3_Missense_Mutation_p.A138S|ABCB7_ENST00000339447.4_Intron	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	138					cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity	p.A139S(1)		breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						GCAACTCTAGCTCGTAGATCT	0.363													55	70					9.16383e-17	1.09169e-16	0.139131	1	0	A	74318818	C	A	74318818	3	1	1	1	0	0	0	0	1	0	0	0	46	797	28	4	1898	4	ABCB7	23	74318818	Missense_Mutation	SNP	C	TCGA-CH-5737-01A-11D-1576-08	35778328	74318818	80951742	110	110											
OR10R2	343406	broad.mit.edu	37	chr1	158449980	158449980	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacccaagatgctcatcaatCtactttctgtggccaggaca	11	11	7	12	0	4	1	2	0	2	1	4	2	4	2	2	2	3	1	2	2	4	3			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr1:158449980C>G	ENST00000368152.1	+	1	313	c.313C>G	c.(313-315)Cta>Gta	p.L105V	RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L105V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					GCTCATCAATCTACTTTCTGT	0.438													6	603					0	0	0.217242	0	0	G	158449980	C	G	158449980	3	3	2	1	0	0	0	0	1	0	0	0	10965	912	32	4	315	4	OR10R2	1	158449980	Missense_Mutation	SNP	C	TCGA-CH-5738-01A-11D-1576-08		158449980	90800641	1	111											
VSIG8	391123	broad.mit.edu	37	chr1	159827904	159827904	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacagtgacaatgaccttccGggtggccatggtggtcttct	7	11	13	10	1	2	2	0	2	2	0	3	3	3	2	3	4	0	0	3	4	1	2	rs112455697		TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr1:159827904G>A	ENST00000368100.1	-	3	541	c.406C>T	c.(406-408)Cgg>Tgg	p.R136W	RP11-190A12.7_ENST00000544342.1_Intron	NM_001013661.1	NP_001013683.1	Q5VU13	VSIG8_HUMAN	V-set and immunoglobulin domain containing 8	136	Ig-like V-type 1.					integral to membrane		p.R136W(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	8	all_hematologic(112;0.0597)					ATGACCTTCCGGGTGGCCATG	0.557													32	75					0	0	0.740014	0	0	A	159827904	G	A	159827904	3	1	2	1	0	0	0	0	1	0	0	0	17286	1115	39	1	858	1	VSIG8	1	159827904	Missense_Mutation	SNP	G	TCGA-CH-5738-01A-11D-1576-08	1377924	159827904	89422717	2	112											
FMOD	2331	broad.mit.edu	37	chr1	203316790	203316790	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgttggaggtacaaggcCgtgaggttctccagcccctc	6	11	13	11	1	1	1	0	1	1	0	3	2	1	2	4	4	2	3	4	4	2	4			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr1:203316790C>T	ENST00000354955.4	-	2	1072	c.609G>A	c.(607-609)acG>acA	p.T203T	FMOD_ENST00000464898.1_5'UTR	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	203					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix		p.T203T(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			GGTACAAGGCCGTGAGGTTCT	0.582													73	242					0	0	0.870114	0	0	T	203316790	C	T	203316790	2	4	2	1	0	0	0	0	0	0	0	1	5992	639	23	1		1	FMOD	1	203316790	Silent	SNP	C	TCGA-CH-5738-01A-11D-1576-08	43488886	203316790	45933831	3	113											
ZC3H11A	9877	broad.mit.edu	37	chr1	203819752	203819752	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgctgtcattgccgctgtGaagccactcagctccagcag	7	9	11	14	1	2	1	2	1	0	0	3	1	3	1	3	0	5	5	3	0	1	1			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr1:203819752G>A	ENST00000545588.1	+	15	5876	c.2049G>A	c.(2047-2049)gtG>gtA	p.V683V	ZC3H11A_ENST00000367210.1_Silent_p.V683V|ZC3H11A_ENST00000367214.1_Silent_p.V683V|ZC3H11A_ENST00000332127.4_Silent_p.V683V|ZC3H11A_ENST00000367212.3_Silent_p.V683V	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	683							nucleic acid binding|protein binding|zinc ion binding	p.V683V(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TTGCCGCTGTGAAGCCACTCA	0.498													5	52					0	0	0.608945	0	0	A	203819752	G	A	203819752	2	1	2	1	0	0	0	0	0	0	0	1	17619	1277	45	2		2	ZC3H11A	1	203819752	Silent	SNP	G	TCGA-CH-5738-01A-11D-1576-08	502962	203819752	45430869	4	114											
ITGB6	3694	broad.mit.edu	37	chr2	160994176	160994176	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtggcaggcacacacccCacactggaaagagccgttcc	11	4	12	14	1	0	1	0	0	0	1	1	2	1	2	4	4	1	3	4	4	1	1			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr2:160994176C>A	ENST00000283249.2	-	10	1666	c.1429G>T	c.(1429-1431)Ggg>Tgg	p.G477W	ITGB6_ENST00000409872.1_Missense_Mutation_p.G477W|ITGB6_ENST00000409967.2_Missense_Mutation_p.G477W|ITGB6_ENST00000428609.2_Missense_Mutation_p.G435W			P18564	ITB6_HUMAN	integrin, beta 6	477	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity	p.G477W(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						GCACACACCCCACACTGGAAA	0.572													4	92					0.150653	0.156233	0.150653	1	0	A	160994176	C	A	160994176	3	1	2	1	0	0	0	0	1	0	0	0	7943	594	21	4	961	4	ITGB6	2	160994176	Missense_Mutation	SNP	C	TCGA-CH-5738-01A-11D-1576-08		160994176	82205197	5	115											
TTN	7273	broad.mit.edu	37	chr2	179444120	179444120	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaagtcaagatcaggagccActgtaaaatagcagagataa	18	8	9	6	0	2	2	2	0	0	2	2	4	2	3	1	1	2	2	1	1	6	4			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr2:179444120A>T	ENST00000589042.1	-	320	67861	c.67636_splice	c.e320-1	p.V22546_splice	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Splice_Site_p.V20905_splice|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Splice_Site_p.V13673_splice|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN_ENST00000359218.5_Splice_Site_p.V13606_splice|TTN_ENST00000460472.2_Splice_Site_p.V13481_splice|TTN_ENST00000342992.6_Splice_Site_p.V19978_splice|TTN-AS1_ENST00000438095.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20905	Fibronectin type-III 63.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.V13481E(2)|p.V19976E(1)|p.V13606E(1)|p.V19978E(1)|p.V13673E(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCAGGAGCCACTGTAAAATA	0.378													4	76					0	0	0.184627	0	0	T	179444120	A	T	179444120	5	4	2	1	0	0	0	0	0	0	1	0	16797	173	6	5	40514	5	TTN	2	179444120	Splice_Site	SNP	A	TCGA-CH-5738-01A-11D-1576-08	18449944	179444120	63755253	6	116											
AOX1	316	broad.mit.edu	37	chr2	201468741	201468741	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatatgttctctttttagaCaagtccaaaactcttcgcag	11	15	6	9	1	2	2	0	1	2	1	5	2	3	2	1	0	1	2	1	0	5	6			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr2:201468741C>A	ENST00000374700.2	+	8	831	c.588_splice	c.e8-1	p.T197_splice		NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	197					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	p.T197K(1)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TCTTTTTAGACAAGTCCAAAA	0.383													10	146					1.76689e-08	2.151e-08	0.335167	1	0	A	201468741	C	A	201468741	5	1	2	1	0	0	0	0	0	0	1	0	725	492	17	4	620	4	AOX1	2	201468741	Splice_Site	SNP	C	TCGA-CH-5738-01A-11D-1576-08	22024621	201468741	41730632	7	117											
PIKFYVE	200576	broad.mit.edu	37	chr2	209190217	209190217	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcattccattccctgattgaGggacgagggcatgagggggc	8	9	15	9	1	1	3	1	3	0	0	3	5	3	4	2	4	0	1	2	4	0	3	rs139157818	byFrequency	TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr2:209190217G>T	ENST00000264380.4	+	20	2840	c.2682G>T	c.(2680-2682)gaG>gaT	p.E894D		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	894					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	p.E894D(2)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						CCCTGATTGAGGGACGAGGGC	0.493													5	262					0.0215528	0.0236658	0.217242	1	0	T	209190217	G	T	209190217	3	4	2	1	0	0	0	0	1	0	0	0	11972	991	35	4	2767	4	PIKFYVE	2	209190217	Missense_Mutation	SNP	G	TCGA-CH-5738-01A-11D-1576-08	7721476	209190217	34009156	8	118											
SLC6A1	6529	broad.mit.edu	37	chr3	11078641	11078641	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcagctccaccagcaaggagGcctacatctagggtgggggc	9	5	15	12	0	1	0	0	0	1	0	2	1	2	1	3	5	3	3	3	5	3	2			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr3:11078641G>T	ENST00000287766.4	+	16	2210	c.1789G>T	c.(1789-1791)Gcc>Tcc	p.A597S	SLC6A1_ENST00000536032.1_Missense_Mutation_p.A419S	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	597					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	p.A597S(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	CAGCAAGGAGGCCTACATCTA	0.627													7	67					0.0293803	0.0316404	0.248553	1	0	T	11078641	G	T	11078641	3	4	2	1	0	0	0	0	1	0	0	0	14728	1203	42	4	1843	4	SLC6A1	3	11078641	Missense_Mutation	SNP	G	TCGA-CH-5738-01A-11D-1576-08		11078641	186943789	9	119											
RASL11B	65997	broad.mit.edu	37	chr4	53730662	53730662	+	Frame_Shift_Del	DEL	C	C	-																															taggtaatctctatactagaCaagttcagatagaaggtgaa																										TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr4:53730662delC	ENST00000248706.3	+	3	435	c.217delC	c.(217-219)aafs	p.Q73fs	RASL11B_ENST00000505041.1_3'UTR	NM_023940.2	NP_076429.1	Q9BPW5	RSLBB_HUMAN	RAS-like, family 11, member B	73	Small GTPase-like.				small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity			autonomic_ganglia(1)|central_nervous_system(1)|lung(5)|ovary(1)|stomach(1)	9			LUSC - Lung squamous cell carcinoma(32;0.0302)			CTATACTAGACAAGTTCAGAT	0.378													7	785	---	---	---	---						-	53730662	C	-	53730662	7	5	2	1	0	1	0	1	0	0	0	0	13134	479	17	0	227	0	RASL11B	4	53730662	Frame_Shift_Del	DEL	C	TCGA-CH-5738-01A-11D-1576-08		53730662	137423614	10	120											
LNX1	84708	broad.mit.edu	37	chr4	54424152	54424152	+	Translation_Start_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctccgagcagtgtgctgcCttctccctggccaccttctg	3	13	9	16	1	3	0	0	0	3	0	5	1	3	0	5	1	3	2	5	1	0	3			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr4:54424152C>A	ENST00000306888.2	-	0	232				FIP1L1_ENST00000507166.1_Intron|LNX1_ENST00000263925.7_Intron	NM_032622.2	NP_116011.2	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase							cytoplasm	zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			AGTGTGCTGCCTTCTCCCTGG	0.527													3	49					0.115264	0.121788	0.115264	1	0	A	54424152	C	A	54424152	1	1	2	1	0	0	0	0	0	0	0	0	8906	696	24	4		4	LNX1	4	54424152	Translation_Start_Site	SNP	C	TCGA-CH-5738-01A-11D-1576-08	693490	54424152	136730124	11	121											
ADH1C	126	broad.mit.edu	37	chr4	100265826	100265827	+	RNA	INS	-	-	AACTC																															tgacatctttacattttcttINSaacaagtttttatctgcaat																								rs138852664	by1000genomes	TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr4:100265826_100265827insAACTC	ENST00000510055.1	-	0	742				ADH1C_ENST00000515683.1_RNA			P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	TACATTTTCTTAACAAGTTTTT	0.297													4	5	---	---	---	---						AACTC	100265827	-	AACTC	100265826	6	5	2	0	1	1	1	0	0	0	0	0	308	1769	61	0		0	ADH1C	4	100265826	RNA	INS	-	TCGA-CH-5738-01A-11D-1576-08	45841674	100265826	90888450	12	122											
C4orf21	55345	broad.mit.edu	37	chr4	113468559	113468559	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagaatcagcttttcacacTcaaacctaaaacagaatttc	17	10	3	11	0	3	2	3	0	0	2	4	2	3	2	1	0	3	1	1	0	6	4			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr4:113468559T>C	ENST00000505019.1	-	24	5605	c.5480A>G	c.(5479-5481)gAg>gGg	p.E1827G		NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	0								p.E1827G(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		CTTTTCACACTCAAACCTAAA	0.348													4	54					0	0	0.150653	0	0	C	113468559	T	C	113468559	3	2	2	1	0	0	0	0	1	0	0	0	2269	1551	54	3	854	3	C4orf21	4	113468559	Missense_Mutation	SNP	T	TCGA-CH-5738-01A-11D-1576-08	13202733	113468559	77685717	13	123											
MAP1B	4131	broad.mit.edu	37	chr5	71493006	71493006	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagacccccctgggtgaacGtagtgtgaacttctctctga	10	10	10	11	1	2	4	0	3	2	1	3	4	2	4	3	1	2	1	3	1	4	2			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr5:71493006G>A	ENST00000296755.7	+	5	4122	c.3824G>A	c.(3823-3825)cGt>cAt	p.R1275H		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1275						microtubule|microtubule associated complex	structural molecule activity	p.R1275H(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CTGGGTGAACGTAGTGTGAAC	0.517													15	131					0	0	0.500413	0	0	A	71493006	G	A	71493006	3	1	2	1	0	0	0	0	1	0	0	0	9278	1145	40	1	3842	1	MAP1B	5	71493006	Missense_Mutation	SNP	G	TCGA-CH-5738-01A-11D-1576-08		71493006	109422254	14	124											
PPP2R2B	5521	broad.mit.edu	37	chr5	145969623	145969623	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttgctaaagtccagactgtCgacactgatctcgtcttttc	8	15	7	11	2	2	2	0	1	2	1	6	3	3	2	1	0	1	1	1	0	2	4			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr5:145969623C>T	ENST00000394413.3	-	9	1789	c.1219G>A	c.(1219-1221)Gac>Aac	p.D407N	PPP2R2B_ENST00000394409.3_Missense_Mutation_p.D465N|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.D407N|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.D407N|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.D407N|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.D410N|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.D396N|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.D413N|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.D396N|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.D473N			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	407					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	p.D410N(1)|p.D465N(1)		endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCAGACTGTCGACACTGATC	0.478													18	509					0	0	0.575678	0	0	T	145969623	C	T	145969623	3	4	2	1	0	0	0	0	1	0	0	0	12434	884	31	1	116	1	PPP2R2B	5	145969623	Missense_Mutation	SNP	C	TCGA-CH-5738-01A-11D-1576-08	74476617	145969623	34945637	15	125											
ZNF454	285676	broad.mit.edu	37	chr5	178392359	178392359	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agggcacaccttaccaaacaCcagaatatccacagtggaga	16	5	8	12	0	0	2	0	0	0	2	1	3	1	2	4	2	2	1	4	2	4	2			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr5:178392359C>G	ENST00000320129.3	+	5	1257	c.954C>G	c.(952-954)caC>caG	p.H318Q	ZNF454_ENST00000519564.1_Missense_Mutation_p.H318Q	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	318					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H318Q(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		TTACCAAACACCAGAATATCC	0.393													4	142					0	0	0.150653	0	0	G	178392359	C	G	178392359	3	3	2	1	0	0	0	0	1	0	0	0	17980	506	18	4	968	4	ZNF454	5	178392359	Missense_Mutation	SNP	C	TCGA-CH-5738-01A-11D-1576-08	32422736	178392359	2522901	16	126											
HIST1H2BN	8341	broad.mit.edu	37	chr6	27806476	27806476	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtccgctcctgccccgaagAaaggctccaagaaggcagtg	11	5	12	13	2	0	2	0	0	0	2	3	3	3	2	5	2	1	3	5	2	4	0			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr6:27806476A>C	ENST00000606613.1	+	1	98	c.37A>C	c.(37-39)Aaa>Caa	p.K13Q	HIST1H2BN_ENST00000396980.3_Missense_Mutation_p.K13Q			Q99877	H2B1N_HUMAN	histone cluster 1, H2bn	13					nucleosome assembly	nucleosome|nucleus	DNA binding	p.K13Q(1)		central_nervous_system(1)|endometrium(3)|lung(3)|prostate(1)	8						TGCCCCGAAGAAAGGCTCCAA	0.552													5	201					0	0	0.184627	0	0	C	27806476	A	C	27806476	3	2	2	1	0	0	0	0	1	0	0	0	7194	247	9	5	39	5	HIST1H2BN	6	27806476	Missense_Mutation	SNP	A	TCGA-CH-5738-01A-11D-1576-08		27806476	143308591	17	127											
ABCC10	89845	broad.mit.edu	37	chr6	43403589	43403589	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccaaagtgtccttggaccGgatccagcttttcctcgacc	7	10	10	14	2	0	0	0	0	0	0	4	3	3	2	6	3	1	1	6	3	1	3			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr6:43403589G>A	ENST00000244533.3	+	3	1939	c.1580G>A	c.(1579-1581)cGg>cAg	p.R527Q	ABCC10_ENST00000372530.4_Missense_Mutation_p.R570Q	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	570	ABC transmembrane type-1 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.R527Q(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TCCTTGGACCGGATCCAGCTT	0.567													5	177					0	0	0.217242	0	0	A	43403589	G	A	43403589	3	1	2	1	0	0	0	0	1	0	0	0	50	1116	39	1	1590	1	ABCC10	6	43403589	Missense_Mutation	SNP	G	TCGA-CH-5738-01A-11D-1576-08	15597113	43403589	127711478	18	128											
BAI3	577	broad.mit.edu	37	chr6	69348738	69348738	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aactttacaaactgcacttgGacgctggaaaatccagatcc	14	9	7	11	1	0	1	0	0	0	1	2	3	2	3	2	2	4	2	2	2	5	3			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr6:69348738G>T	ENST00000370598.1	+	3	992	c.171G>T	c.(169-171)tgG>tgT	p.W57C		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	57	CUB.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.W57C(2)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ACTGCACTTGGACGCTGGAAA	0.393													5	226					0.000602214	0.000688245	0.184627	1	0	T	69348738	G	T	69348738	3	4	2	1	0	0	0	0	1	0	0	0	1298	1183	41	4	173	4	BAI3	6	69348738	Missense_Mutation	SNP	G	TCGA-CH-5738-01A-11D-1576-08	25945149	69348738	101766329	19	129											
EFCAB1	79645	broad.mit.edu	37	chr8	49641698	49641698	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacagcttcccatcatggTcatgatcctaggggaatgag	12	9	11	9	0	2	3	2	2	0	1	4	4	4	4	2	3	1	1	2	3	3	2			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr8:49641698T>C	ENST00000433756.1	-	4	482	c.323A>G	c.(322-324)gAc>gGc	p.D108G	EFCAB1_ENST00000521002.1_Intron|EFCAB1_ENST00000523092.1_Missense_Mutation_p.D108G|EFCAB1_ENST00000262103.3_Missense_Mutation_p.D160G	NM_001142857.1	NP_001136329.1	Q9HAE3	EFCB1_HUMAN	EF-hand calcium binding domain 1	160	EF-hand 2.						calcium ion binding	p.D160G(1)		endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				CCCATCATGGTCATGATCCTA	0.408													3	151					0	0	0.150653	0	0	C	49641698	T	C	49641698	3	2	2	1	0	0	0	0	1	0	0	0	4959	1667	58	3	164	3	EFCAB1	8	49641698	Missense_Mutation	SNP	T	TCGA-CH-5738-01A-11D-1576-08		49641698	96722324	20	130											
CREM	1390	broad.mit.edu	37	chr10	35500241	35500241	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcaaatgtcttgaaaatcGtgtggctgtgcttgaaaacc	11	13	10	7	1	2	2	1	2	1	0	3	2	2	2	1	1	2	2	1	1	5	2			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr10:35500241G>A	ENST00000333809.8	+	8	1016	c.962G>A	c.(961-963)cGt>cAt	p.R321H	CREM_ENST00000374728.3_Intron|CREM_ENST00000374734.3_Missense_Mutation_p.R209H|CREM_ENST00000474931.1_Missense_Mutation_p.R85H|CREM_ENST00000348787.2_Intron|CREM_ENST00000487763.1_Intron|CREM_ENST00000474362.1_Intron|CREM_ENST00000354759.3_Missense_Mutation_p.R221H|CREM_ENST00000488328.1_Intron|CREM_ENST00000479070.1_Intron|CREM_ENST00000473940.1_Missense_Mutation_p.R93H|CREM_ENST00000374721.3_Missense_Mutation_p.R242H|CREM_ENST00000361599.4_Intron|CREM_ENST00000484283.1_Intron|CREM_ENST00000468236.1_Intron|CREM_ENST00000429130.3_Intron|CREM_ENST00000488741.1_Missense_Mutation_p.R75H|CREM_ENST00000337656.4_Missense_Mutation_p.R272H|CREM_ENST00000463960.1_Intron|CREM_ENST00000345491.3_Intron|CREM_ENST00000344351.5_Missense_Mutation_p.R68H|CREM_ENST00000439705.1_Missense_Mutation_p.R258H|CREM_ENST00000490511.1_Intron|CREM_ENST00000460270.1_Missense_Mutation_p.R68H|CREM_ENST00000463314.1_Intron|CREM_ENST00000356917.5_Missense_Mutation_p.R81H|CREM_ENST00000395887.3_Intron|CREM_ENST00000342105.3_Intron|CREM_ENST00000395895.2_Intron	NM_183011.1	NP_898829.1	Q03060	CREM_HUMAN	cAMP responsive element modulator	333					cell differentiation|multicellular organismal development|signal transduction|spermatogenesis	nucleus	cAMP response element binding protein binding|protein binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R272H(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14						CTTGAAAATCGTGTGGCTGTG	0.443													33	111					0	0	0.740014	0	0	A	35500241	G	A	35500241	3	1	2	1	0	0	0	0	1	0	0	0	3891	1145	40	1	1093	1	CREM	10	35500241	Missense_Mutation	SNP	G	TCGA-CH-5738-01A-11D-1576-08		35500241	100034506	21	131											
PACS1	55690	broad.mit.edu	37	chr11	66000448	66000449	+	Frame_Shift_Ins	INS	-	-	A																															agtatgtggctgagctgctcINScaggaccagcggaagcctgt																										TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr11:66000448_66000449insA	ENST00000320580.4	+	15	1782_1783	c.1749_1750insA	c.(1747-1752)ctaggafs	p.G584fs	PACS1_ENST00000529757.1_Frame_Shift_Ins_p.G120fs	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	584					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						CTGAGCTGCTCCAGGACCAGCG	0.624													35	423	---	---	---	---						A	66000449	-	A	66000448	7	5	2	1	0	1	1	0	0	0	0	0	11419	842	30	0	1807	0	PACS1	11	66000448	Frame_Shift_Ins	INS	-	TCGA-CH-5738-01A-11D-1576-08		66000448	69006068	22	132											
KRTAP5-9	3846	broad.mit.edu	37	chr11	71259894	71259894	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tggcaagcggggctgtggctCctgtgggggctccaagggag	5	7	20	9	1	0	0	0	0	0	0	2	1	2	1	2	7	1	4	2	7	2	0			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr11:71259894C>T	ENST00000528743.2	+	1	429	c.191C>T	c.(190-192)tCc>tTc	p.S64F		NM_005553.3	NP_005544.4	P26371	KRA59_HUMAN	keratin associated protein 5-9	64	8 X 4 AA repeats of C-C-X-P.				epidermis development	keratin filament		p.S64F(1)		kidney(1)|large_intestine(1)|lung(6)|prostate(3)	11						GGCTGTGGCTCCTGTGGGGGC	0.632													6	211					0	0	0.248553	0	0	T	71259894	C	T	71259894	3	4	2	1	0	0	0	0	1	0	0	0	8607	855	30	2	193	2	KRTAP5-9	11	71259894	Missense_Mutation	SNP	C	TCGA-CH-5738-01A-11D-1576-08	5259446	71259894	63746622	23	133											
R3HDM2	22864	broad.mit.edu	37	chr12	57662763	57662763	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttgcatctggccccccatgCtgctcctctggctgctgagc	3	11	10	17	0	2	1	0	1	2	0	3	1	3	1	4	2	5	5	4	2	0	1			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr12:57662763C>A	ENST00000402412.1	-	17	2207	c.1817G>T	c.(1816-1818)aGc>aTc	p.S606I	R3HDM2_ENST00000441731.2_Missense_Mutation_p.S287I|R3HDM2_ENST00000403821.2_Missense_Mutation_p.S626I|R3HDM2_ENST00000393811.2_Missense_Mutation_p.S319I|R3HDM2_ENST00000358907.2_Missense_Mutation_p.S592I|R3HDM2_ENST00000347140.3_Missense_Mutation_p.S592I|R3HDM2_ENST00000413953.2_Missense_Mutation_p.S319I|RP11-123K3.4_ENST00000548184.1_RNA			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	592	Gln-rich.					nucleus	nucleic acid binding	p.S253I(1)|p.S592I(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						GCCCCCCATGCTGCTCCTCTG	0.587													5	255					6.5536e-12	8.15559e-12	0.27861	1	0	A	57662763	C	A	57662763	3	1	2	1	0	0	0	0	1	0	0	0	12940	797	28	4	1187	4	R3HDM2	12	57662763	Missense_Mutation	SNP	C	TCGA-CH-5738-01A-11D-1576-08		57662763	76189132	24	134											
METTL3	56339	broad.mit.edu	37	chr14	21969230	21969230	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacatgtattaaggaaagagCagtcacctaaagactcatca	18	8	7	8	0	3	2	3	0	0	2	3	3	3	3	1	1	2	2	1	1	6	3			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr14:21969230C>G	ENST00000298717.4	-	5	1092	c.941G>C	c.(940-942)tGc>tCc	p.C314S	METTL3_ENST00000538267.1_3'UTR	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	314					gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding	p.C314S(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		AAGGAAAGAGCAGTCACCTAA	0.413													3	137					0	0	0.115264	0	0	G	21969230	C	G	21969230	3	3	2	1	0	0	0	0	1	0	0	0	9551	710	25	4	829	4	METTL3	14	21969230	Missense_Mutation	SNP	C	TCGA-CH-5738-01A-11D-1576-08		21969230	85380310	25	135											
ASB2	51676	broad.mit.edu	37	chr14	94401108	94401108	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggcctttcgaacccgcagtCggcaaaggtgagccagaggt	9	7	14	11	3	0	2	0	1	0	1	2	3	0	2	3	4	2	2	3	4	2	1			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr14:94401108C>T	ENST00000555019.1	-	10	2232	c.1802G>A	c.(1801-1803)cGa>cAa	p.R601Q	ASB2_ENST00000315988.4_Missense_Mutation_p.R553Q	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	553					intracellular signal transduction			p.R553Q(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		AACCCGCAGTCGGCAAAGGTG	0.488													46	109					0	0	0.870114	0	0	T	94401108	C	T	94401108	3	4	2	1	0	0	0	0	1	0	0	0	1022	884	31	1	109	1	ASB2	14	94401108	Missense_Mutation	SNP	C	TCGA-CH-5738-01A-11D-1576-08	72431878	94401108	12948432	26	136											
ADAM10	102	broad.mit.edu	37	chr15	58902623	58902623	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacagtaacctctaaaatcgTtgcaaggggatccaggttgc	12	9	10	10	1	1	0	0	0	1	0	3	1	2	1	2	3	3	4	2	3	4	4			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr15:58902623T>C	ENST00000260408.3	-	14	2341	c.1898A>G	c.(1897-1899)aAc>aGc	p.N633S	ADAM10_ENST00000396140.2_Missense_Mutation_p.N332S|ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000402627.1_Intron	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	633	Cys-rich.				cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding	p.N633S(1)		breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		TCTAAAATCGTTGCAAGGGGA	0.478													5	161					0	0	0.248553	0	0	C	58902623	T	C	58902623	3	2	2	1	0	0	0	0	1	0	0	0	233	1725	60	3	360	3	ADAM10	15	58902623	Missense_Mutation	SNP	T	TCGA-CH-5738-01A-11D-1576-08		58902623	43628769	27	137											
KIAA1199	57214	broad.mit.edu	37	chr15	81234649	81234649	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttccaagcagcacttcttcCacctctggaacgacttcgct	8	11	7	15	2	2	0	0	0	2	0	5	2	4	1	3	1	3	4	3	1	2	4			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr15:81234649C>T	ENST00000394685.3	+	27	4089	c.3670C>T	c.(3670-3672)Cac>Tac	p.H1224Y	KIAA1199_ENST00000356249.5_Missense_Mutation_p.H1224Y|RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000220244.3_Missense_Mutation_p.H1224Y			Q8WUJ3	K1199_HUMAN	KIAA1199	1224								p.H1224Y(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GCACTTCTTCCACCTCTGGAA	0.478													47	173					0	0	0.870114	0	0	T	81234649	C	T	81234649	3	4	2	1	0	0	0	0	1	0	0	0	8255	594	21	2	3768	2	KIAA1199	15	81234649	Missense_Mutation	SNP	C	TCGA-CH-5738-01A-11D-1576-08	22332026	81234649	21296743	28	138											
DNAH9	1770	broad.mit.edu	37	chr17	11790187	11790187	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaaaatcaacgaggcccgaGagcactaccggccagcagct	13	4	11	13	3	1	2	1	1	0	1	1	4	1	2	3	2	5	3	3	2	4	1			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr17:11790187G>A	ENST00000262442.3	+	57	11085	c.11017G>A	c.(11017-11019)Gag>Aag	p.E3673K	DNAH9_ENST00000396001.2_5'UTR|DNAH9_ENST00000454412.2_Missense_Mutation_p.E3673K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3673					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.E3673K(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CGAGGCCCGAGAGCACTACCG	0.527													7	180					0	0	0.248553	0	0	A	11790187	G	A	11790187	3	1	2	1	0	0	0	0	1	0	0	0	4635	943	33	2	11243	2	DNAH9	17	11790187	Missense_Mutation	SNP	G	TCGA-CH-5738-01A-11D-1576-08		11790187	69405023	29	139											
LLGL1	3996	broad.mit.edu	37	chr17	18137336	18137336	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctccacagcgtgccagaCgactaccgctgtgggaaggc	8	7	12	14	3	0	1	0	0	0	1	2	3	2	2	4	2	3	1	4	2	2	2			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr17:18137336C>T	ENST00000316843.4	+	6	657	c.561C>T	c.(559-561)gaC>gaT	p.D187D		NM_004140.3	NP_004131.3	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	187					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity	p.D187D(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					GCGTGCCAGACGACTACCGCT	0.652													5	32					0	0	0.217242	0	0	T	18137336	C	T	18137336	2	4	2	1	0	0	0	0	0	0	0	1	8874	535	19	1		1	LLGL1	17	18137336	Silent	SNP	C	TCGA-CH-5738-01A-11D-1576-08	6347149	18137336	63057874	30	140											
LRRC37A3	374819	broad.mit.edu	37	chr17	62856432	62856432	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actttctaaaatggaaatagCgtgggttaagtctttccatc	12	14	8	7	1	2	0	0	0	2	0	4	1	3	1	1	2	1	1	1	2	5	5			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr17:62856432C>T	ENST00000584306.1	-	11	4362	c.3832G>A	c.(3832-3834)Gct>Act	p.A1278T	LRRC37A3_ENST00000334962.5_Missense_Mutation_p.A255T|LRRC37A3_ENST00000339474.5_Missense_Mutation_p.A396T|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.A1278T|LRRC37A3_ENST00000400877.3_Missense_Mutation_p.A316T	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1278						integral to membrane		p.A1278T(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						ATGGAAATAGCGTGGGTTAAG	0.453													15	300					0	0	0.520397	0	0	T	62856432	C	T	62856432	3	4	2	1	0	0	0	0	1	0	0	0	9038	768	27	1	1088	1	LRRC37A3	17	62856432	Missense_Mutation	SNP	C	TCGA-CH-5738-01A-11D-1576-08	44719096	62856432	18338778	31	141											
KIAA0355	9710	broad.mit.edu	37	chr19	34818760	34818760	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaatccaaaggcgattgaaGcaagtttgcaggtacacttt	13	11	10	7	1	0	2	0	2	0	0	1	3	1	2	1	2	3	4	1	2	5	4			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr19:34818760G>A	ENST00000299505.6	+	5	1804	c.931G>A	c.(931-933)Gca>Aca	p.A311T		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	311								p.A311T(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					GGCGATTGAAGCAAGTTTGCA	0.453													28	183					0	0	0.717897	0	0	A	34818760	G	A	34818760	3	1	2	1	0	0	0	0	1	0	0	0	8212	971	34	2	945	2	KIAA0355	19	34818760	Missense_Mutation	SNP	G	TCGA-CH-5738-01A-11D-1576-08		34818760	24310223	32	142											
ZNF420	147923	broad.mit.edu	37	chr19	37618589	37618589	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaagaatgtgggaaagccttTattcgtagctcacaacttac	13	11	9	8	1	1	1	1	0	0	1	2	3	1	2	1	1	4	2	1	1	7	5			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr19:37618589T>A	ENST00000337995.3	+	5	911	c.696T>A	c.(694-696)ttT>ttA	p.F232L	ZNF420_ENST00000304239.7_Missense_Mutation_p.F232L|ZNF585A_ENST00000588723.1_Intron	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	232					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F232L(1)		breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGAAAGCCTTTATTCGTAGCT	0.368													11	203					0	0	0.361761	0	0	A	37618589	T	A	37618589	3	1	2	1	0	0	0	0	1	0	0	0	17954	1751	61	5	706	5	ZNF420	19	37618589	Missense_Mutation	SNP	T	TCGA-CH-5738-01A-11D-1576-08	2799829	37618589	21510394	33	143											
HNRNPUL1	11100	broad.mit.edu	37	chr19	41807592	41807592	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaggatgtcccagatcatgCggtcttagaaatgaaaggta	14	9	12	6	1	2	3	1	1	1	2	3	5	3	4	1	3	1	1	1	3	5	2			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr19:41807592C>T	ENST00000392006.3	+	11	1843	c.1670C>T	c.(1669-1671)gCg>gTg	p.A557V	HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.A457V|HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.A457V|HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.A457V|HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.A468V|HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.A443V|HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.A557V	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	557	Necessary for interaction with BRD7 and transcriptional activation.|Necessary for interaction with TP53.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding	p.A557V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						CCAGATCATGCGGTCTTAGAA	0.483													4	150					0	0	0.184627	0	0	T	41807592	C	T	41807592	3	4	2	1	0	0	0	0	1	0	0	0	7315	768	27	1	1712	1	HNRNPUL1	19	41807592	Missense_Mutation	SNP	C	TCGA-CH-5738-01A-11D-1576-08	4189003	41807592	17321391	34	144											
SHANK1	50944	broad.mit.edu	37	chr19	51219979	51219979	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatgctgaagtgggcgtcGtctgggacggacattgagcg	8	9	16	8	4	2	2	1	2	1	0	3	4	2	4	0	3	2	1	0	3	1	1			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr19:51219979G>A	ENST00000293441.1	-	1	216	c.198C>T	c.(196-198)gaC>gaT	p.D66D	SHANK1_ENST00000359082.3_Silent_p.D66D|SHANK1_ENST00000391814.1_Silent_p.D66D	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	66					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	p.D66D(2)		breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		AGTGGGCGTCGTCTGGGACGG	0.672													4	141					0	0	0.150653	0	0	A	51219979	G	A	51219979	2	1	2	1	0	0	0	0	0	0	0	1	14319	1136	40	1		1	SHANK1	19	51219979	Silent	SNP	G	TCGA-CH-5738-01A-11D-1576-08	9412387	51219979	7909004	35	145											
ZNF600	162966	broad.mit.edu	37	chr19	53270592	53270592	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaattcggggaattattcccAtagttattagaaatatggat	14	14	9	4	1	0	1	0	0	0	1	2	4	1	3	1	3	0	1	1	3	8	7			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr19:53270592A>C	ENST00000338230.3	-	3	684	c.417T>G	c.(415-417)taT>taG	p.Y139*		NM_198457.2	NP_940859.2	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	139					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Y139*(2)		breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		AATTATTCCCATAGTTATTAG	0.373													5	390					0	0	0.184627	0	0	C	53270592	A	C	53270592	4	2	2	1	0	0	0	0	0	1	0	0	18087	224	8	5	1755	5	ZNF600	19	53270592	Nonsense_Mutation	SNP	A	TCGA-CH-5738-01A-11D-1576-08	2050613	53270592	5858391	36	146											
NRIP1	8204	broad.mit.edu	37	chr21	16338592	16338592	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcttccactgacatggatGactgcattccacattgtgct	8	13	8	12	0	1	2	0	2	1	0	3	3	3	3	2	1	2	3	2	1	0	3			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr21:16338592G>T	ENST00000400202.1	-	3	2634	c.1922C>A	c.(1921-1923)tCa>tAa	p.S641*	NRIP1_ENST00000400199.1_Nonsense_Mutation_p.S641*|NRIP1_ENST00000318948.4_Nonsense_Mutation_p.S641*			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	641	Repression domain 2.				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity	p.S641*(1)		cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TGACATGGATGACTGCATTCC	0.438													8	316					1.06961e-07	1.27443e-07	0.27861	1	0	T	16338592	G	T	16338592	4	4	2	1	0	0	0	0	0	1	0	0	10700	1294	45	4	1558	4	NRIP1	21	16338592	Nonsense_Mutation	SNP	G	TCGA-CH-5738-01A-11D-1576-08		16338592	31791303	37	147											
ADAMTS1	9510	broad.mit.edu	37	chr21	28211980	28211980	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacctgtcctttggtgagaCgccagcgtacttgggaatcc	7	10	12	12	2	0	1	0	1	0	1	2	3	2	2	4	2	2	2	4	2	2	3			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr21:28211980C>T	ENST00000284984.2	-	7	2408	c.1954G>A	c.(1954-1956)Gtc>Atc	p.V652I		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	652	Cys-rich.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding	p.V652I(2)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		TTTGGTGAGACGCCAGCGTAC	0.468													20	299					0	0	0.575678	0	0	T	28211980	C	T	28211980	3	4	2	1	0	0	0	0	1	0	0	0	254	536	19	1	961	1	ADAMTS1	21	28211980	Missense_Mutation	SNP	C	TCGA-CH-5738-01A-11D-1576-08	11873388	28211980	19917915	38	148											
TBC1D10A	83874	broad.mit.edu	37	chr22	30688748	30688748	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgcagcctgggcggggagcgGcactgcagctcaccccgggt	5	5	17	14	3	1	0	1	0	0	0	1	1	1	1	3	5	5	4	3	5	0	0			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr22:30688748G>A	ENST00000215790.7	-	9	1307	c.1143C>T	c.(1141-1143)tgC>tgT	p.C381C	RP1-130H16.18_ENST00000447976.1_Intron|TBC1D10A_ENST00000403362.1_Silent_p.C293C|TBC1D10A_ENST00000403477.3_Silent_p.C388C	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	381						intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity	p.C381C(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						GCGGGGAGCGGCACTGCAGCT	0.657													4	55					0	0	0.184627	0	0	A	30688748	G	A	30688748	2	1	2	1	0	0	0	0	0	0	0	1	15655	1195	42	2		2	TBC1D10A	22	30688748	Silent	SNP	G	TCGA-CH-5738-01A-11D-1576-08		30688748	20615818	39	149											
SYN3	8224	broad.mit.edu	37	chr22	33260926	33260926	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttatggttggggaaaaaTgtttgctccacaagcgggaa	11	10	14	6	1	0	0	0	0	0	0	1	2	1	2	1	5	2	4	1	5	5	3			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chr22:33260926T>C	ENST00000358763.2	-	6	929	c.687A>G	c.(685-687)acA>acG	p.T229T	SYN3_ENST00000332840.5_Silent_p.T229T	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	229	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity	p.T229T(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						TGGGGAAAAATGTTTGCTCCA	0.438													15	371					0	0	0.500413	0	0	C	33260926	T	C	33260926	2	2	2	1	0	0	0	0	0	0	0	1	15499	1451	51	3		3	SYN3	22	33260926	Silent	SNP	T	TCGA-CH-5738-01A-11D-1576-08	2572178	33260926	18043640	40	150											
POF1B	79983	broad.mit.edu	37	chrX	84561266	84561266	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagtctgtattccatgtctGatagtgtatgtcgaagagag	10	15	11	5	1	2	2	0	1	2	1	4	4	3	2	1	0	0	2	1	0	5	5			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chrX:84561266G>T	ENST00000262753.4	-	12	1383	c.1238C>A	c.(1237-1239)tCa>tAa	p.S413*	POF1B_ENST00000373145.3_Nonsense_Mutation_p.S413*	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	413							actin binding	p.S413*(2)		central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						TTCCATGTCTGATAGTGTATG	0.343													50	155					1.30409e-13	1.65975e-13	0.870114	1	0	T	84561266	G	T	84561266	4	4	2	1	0	0	0	0	0	1	0	0	12230	1294	45	4	555	4	POF1B	23	84561266	Nonsense_Mutation	SNP	G	TCGA-CH-5738-01A-11D-1576-08		84561266	70709294	41	151											
GABRQ	55879	broad.mit.edu	37	chrX	151821286	151821286	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgacagtatttttcctaccGaaatccgcaaccgtgtcgaa	12	11	7	11	4	0	1	0	1	0	0	3	3	2	1	4	0	2	2	4	0	5	4			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chrX:151821286G>A	ENST00000370306.2	+	9	1461	c.1441G>A	c.(1441-1443)Gaa>Aaa	p.E481K		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	481						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity	p.E481K(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					TTTTCCTACCGAAATCCGCAA	0.547													4	161					0	0	0.184627	0	0	A	151821286	G	A	151821286	3	1	2	1	0	0	0	0	1	0	0	0	6210	1059	37	1	1475	1	GABRQ	23	151821286	Missense_Mutation	SNP	G	TCGA-CH-5738-01A-11D-1576-08	67260020	151821286	3449274	42	152											
MAGEA6	4105	broad.mit.edu	37	chrX	151869832	151869832	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtggaccccatcggccaCgtgtacatctttgccacctg	8	9	10	14	2	1	0	0	0	1	0	2	2	1	1	5	2	2	1	5	2	2	2			TCGA-CH-5738-01A-11D-1576-08	TCGA-CH-5738-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2df47d25-97d9-4d8b-bd00-01bdfe040ceb	21323ad5-08ed-4261-a1cd-8a5f1457829e	g.chrX:151869832C>T	ENST00000329342.5	+	3	747	c.522C>T	c.(520-522)caC>caT	p.H174H		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	174	MAGE.						protein binding	p.H174H(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CCATCGGCCACGTGTACATCT	0.532													13	143					0	0	0.411799	0	0	T	151869832	C	T	151869832	2	4	2	1	0	0	0	0	0	0	0	1	9218	535	19	1		1	MAGEA6	23	151869832	Silent	SNP	C	TCGA-CH-5738-01A-11D-1576-08	48546	151869832	3400728	43	153											
HNRNPR	10236	broad.mit.edu	37	chr1	23650124	23650124	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctattctgaccggacagTggatccatcataagacgtag	11	10	9	11	2	3	2	1	1	2	1	4	4	4	4	3	2	0	1	3	2	3	4			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:23650124T>C	ENST00000478691.1	-	5	568	c.297A>G	c.(295-297)ccA>ccG	p.P99P	HNRNPR_ENST00000606561.1_Silent_p.P61P|HNRNPR_ENST00000302271.6_Silent_p.P200P|HNRNPR_ENST00000374612.1_Silent_p.P200P|HNRNPR_ENST00000427764.2_Silent_p.P162P|HNRNPR_ENST00000374616.3_Silent_p.P200P|HNRNPR_ENST00000426846.2_Intron	NM_001102397.1|NM_001102399.1	NP_001095867.1|NP_001095869.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	200	Asp/Glu-rich (acidic).					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	p.P200P(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		GACCGGACAGTGGATCCATCA	0.443													10	197					0	0	0.000442599	0	0	C	23650124	T	C	23650124	2	2	3	1	0	0	0	0	0	0	0	1	7313	1683	59	3		3	HNRNPR	1	23650124	Silent	SNP	T	TCGA-CH-5739-01A-11D-1576-08		23650124	225600497	1	154											
RPE65	6121	broad.mit.edu	37	chr1	68906685	68906685	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catagttgcaaagatcaaccTacggaagtaaagtgaatgtc	16	9	9	7	1	1	2	1	1	0	1	2	3	1	3	1	1	3	3	1	1	8	4			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:68906685T>C	ENST00000262340.5	-	6	549		c.e6-2			NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa						visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity	p.?(1)		central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						AAGATCAACCTACGGAAGTAA	0.428													4	79					0	0	0.00024832	0	0	C	68906685	T	C	68906685	5	2	3	1	0	0	0	0	0	0	1	0	13597	1536	53	3	1143	3	RPE65	1	68906685	Splice_Site	SNP	T	TCGA-CH-5739-01A-11D-1576-08	45256561	68906685	180343936	2	155											
ABCA4	24	broad.mit.edu	37	chr1	94514475	94514475	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgtttcctctgttaggggctCggtcttttccagggctcttt	2	17	11	11	2	3	0	0	0	3	0	6	0	5	0	2	4	0	4	2	4	1	5	rs61749441	byFrequency	TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:94514475C>T	ENST00000370225.3	-	18	2778	c.2692G>A	c.(2692-2694)Gag>Aag	p.E898K	ABCA4_ENST00000535735.1_Missense_Mutation_p.E824K	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	898					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.E898K(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GTTAGGGGCTCGGTCTTTTCC	0.517													14	171					0	0	7.07596e-05	0	0	T	94514475	C	T	94514475	3	4	3	1	0	0	0	0	1	0	0	0	34	893	31	1	4261	1	ABCA4	1	94514475	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	25607790	94514475	154736146	3	156											
SLC16A4	9122	broad.mit.edu	37	chr1	110925493	110925493	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gatgacatgatggatccaatCcaaccaatttgctctgaggt	12	11	9	9	0	1	3	0	3	1	0	3	5	3	4	3	2	2	1	3	2	3	1			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:110925493C>G	ENST00000369779.4	-	3	432	c.183G>C	c.(181-183)tgG>tgC	p.W61C	SLC16A4_ENST00000369781.4_Missense_Mutation_p.W61C|SLC16A4_ENST00000437429.2_Intron|LAMTOR5-AS1_ENST00000590413.1_RNA|SLC16A4_ENST00000541986.1_Intron|SLC16A4_ENST00000497687.1_Intron|SLC16A4_ENST00000472422.2_Missense_Mutation_p.W61C	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN	solute carrier family 16, member 4	61						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	p.W61C(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	TGGATCCAATCCAACCAATTT	0.408													62	156					0	0	0.000147903	0	0	G	110925493	C	G	110925493	3	3	3	1	0	0	0	0	1	0	0	0	14465	856	30	4	1308	4	SLC16A4	1	110925493	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	16411018	110925493	138325128	4	157											
PTGFRN	5738	broad.mit.edu	37	chr1	117529548	117529548	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaggaggttcaggagacaCggcgcgagcgccgcaggctc	10	3	17	11	5	1	2	1	0	0	2	2	5	1	3	1	5	1	3	1	5	1	1	rs140355100		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:117529548C>T	ENST00000393203.2	+	9	2746	c.2599C>T	c.(2599-2601)Cgg>Tgg	p.R867W		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	867						endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding	p.R867W(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		TCAGGAGACACGGCGCGAGCG	0.617													56	108					0	0	0.000147903	0	0	T	117529548	C	T	117529548	3	4	3	1	0	0	0	0	1	0	0	0	12800	527	19	1	2633	1	PTGFRN	1	117529548	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	6604055	117529548	131721073	5	158											
GJA5	2702	broad.mit.edu	37	chr1	147230995	147230995	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcgtaagagccagagccccGgacctctttggccctctcgg	6	8	11	16	3	2	2	0	0	2	2	4	3	2	3	5	3	2	1	5	3	1	2			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:147230995G>A	ENST00000271348.2	-	2	513	c.352C>T	c.(352-354)Cgg>Tgg	p.R118W	GJA5_ENST00000369237.1_Missense_Mutation_p.R118W	NM_005266.5|NM_181703.2	NP_005257.2|NP_859054.1	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	118					angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane		p.R118W(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			CCAGAGCCCCGGACCTCTTTG	0.622													53	149					0	0	0.000147903	0	0	A	147230995	G	A	147230995	3	1	3	1	0	0	0	0	1	0	0	0	6446	1115	39	1	728	1	GJA5	1	147230995	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	29701447	147230995	102019626	6	159											
CRNN	49860	broad.mit.edu	37	chr1	152382359	152382359	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtctgggcctgtcctcccGgtactgtctctcctgcctca	3	12	9	17	1	3	0	1	0	2	0	7	0	6	0	5	2	2	1	5	2	1	1			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:152382359G>A	ENST00000271835.3	-	3	1261	c.1199C>T	c.(1198-1200)cCg>cTg	p.P400L	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	400					cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	p.P400L(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGTCCTCCCGGTACTGTCTC	0.612													50	105					0	0	0.000147903	0	0	A	152382359	G	A	152382359	3	1	3	1	0	0	0	0	1	0	0	0	3915	1116	39	1	292	1	CRNN	1	152382359	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	5151364	152382359	96868262	7	160											
LCE1C	353133	broad.mit.edu	37	chr1	152777624	152777624	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcctccagagtgctggcCactccccccgccacagcagc	7	4	10	20	1	0	1	0	0	0	1	2	1	2	1	7	1	4	3	7	1	0	0			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:152777624C>T	ENST00000368768.1	-	2	381	c.331G>A	c.(331-333)Ggc>Agc	p.G111S	LCE1C_ENST00000607093.1_Missense_Mutation_p.G111S	NM_178351.3	NP_848128.1	Q5T751	LCE1C_HUMAN	late cornified envelope 1C	111	Gly-rich.				keratinization			p.G111S(1)		NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAGTGCTGGCCACTCCCCCCG	0.657													14	39					0	0	0.000132079	0	0	T	152777624	C	T	152777624	3	4	3	1	0	0	0	0	1	0	0	0	8700	594	21	2	29	2	LCE1C	1	152777624	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	395265	152777624	96472997	8	161											
LCE1A	353131	broad.mit.edu	37	chr1	152800255	152800255	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgtggaggggacagcGgccagcactctggaggctgc	6	6	18	11	1	1	0	0	0	1	0	1	3	1	3	1	6	4	4	1	6	0	0			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:152800255G>A	ENST00000335123.2	+	1	307	c.307G>A	c.(307-309)Ggc>Agc	p.G103S		NM_178348.2	NP_848125.1	Q5T7P2	LCE1A_HUMAN	late cornified envelope 1A	103	Cys-rich.				keratinization			p.G103S(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGGGGACAGCGGCCAGCACTC	0.622													4	14					0	0	0.000442599	0	0	A	152800255	G	A	152800255	3	1	3	1	0	0	0	0	1	0	0	0	8698	1116	39	1	309	1	LCE1A	1	152800255	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	22631	152800255	96450366	9	162											
TPR	7175	broad.mit.edu	37	chr1	186289546	186289546	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agggacaccagcaacctgcgGcgaactaaatggacaaaaac	17	3	10	11	2	0	0	0	0	0	0	0	3	0	2	2	3	5	1	2	3	6	1			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:186289546G>A	ENST00000367478.3	-	46	6762	c.6466C>T	c.(6466-6468)Ccg>Tcg	p.P2156S		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	2156					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	p.P2156S(2)|p.P2143S(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		GCAACCTGCGGCGAACTAAAT	0.398			T	NTRK1	papillary thyroid								14	63					0	0	0.000422831	0	0	A	186289546	G	A	186289546	3	1	3	1	0	0	0	0	1	0	0	0	16477	1203	42	2	649	2	TPR	1	186289546	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	33489291	186289546	62961075	10	163											
LYST	1130	broad.mit.edu	37	chr1	235950607	235950607	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catttgcttgggaggaaaatAttctcctgtgattcaacctg	10	14	9	8	0	2	1	1	1	1	0	3	3	2	3	2	2	2	1	2	2	4	5			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr1:235950607A>G	ENST00000389794.3	-	14	4929	c.4755T>C	c.(4753-4755)aaT>aaC	p.N1585N	LYST_ENST00000389793.2_Silent_p.N1585N|LYST_ENST00000536965.1_3'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1585					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)			GGAGGAAAATATTCTCCTGTG	0.418													7	457					0	0	0.000157383	0	0	G	235950607	A	G	235950607	2	3	3	1	0	0	0	0	0	0	0	1	9174	446	16	3		3	LYST	1	235950607	Silent	SNP	A	TCGA-CH-5739-01A-11D-1576-08	49661061	235950607	13300014	11	164											
CPSF3	51692	broad.mit.edu	37	chr2	9595849	9595849	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccattccatatactggtccCtttaatttgctctgttacca	8	16	5	12	0	1	0	0	0	1	0	3	0	3	0	4	1	3	2	4	1	4	7			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:9595849C>G	ENST00000460593.1	+	13	2593	c.1455C>G	c.(1453-1455)ccC>ccG	p.P485P	CPSF3_ENST00000238112.3_Silent_p.P522P			Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa	522					histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex	5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding	p.P522P(1)		NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		ATACTGGTCCCTTTAATTTGC	0.383													14	121					0	0	0.000422831	0	0	G	9595849	C	G	9595849	2	3	3	1	0	0	0	0	0	0	0	1	3849	668	24	4		4	CPSF3	2	9595849	Silent	SNP	C	TCGA-CH-5739-01A-11D-1576-08		9595849	233603524	12	165											
PROKR1	10887	broad.mit.edu	37	chr2	68882252	68882252	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctttggcatagaattcgtGggccccgtggtcaccatgac	8	11	11	11	2	2	2	1	1	1	1	3	2	2	2	3	3	0	1	3	3	2	3			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:68882252G>T	ENST00000303786.3	+	3	1146	c.726G>T	c.(724-726)gtG>gtT	p.V242V	PROKR1_ENST00000394342.2_Silent_p.V242V			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	242						integral to membrane|plasma membrane	neuropeptide Y receptor activity	p.V242V(1)		endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TAGAATTCGTGGGCCCCGTGG	0.557													32	86					9.78306e-22	2.19319e-20	0.000279167	1	0	T	68882252	G	T	68882252	2	4	3	1	0	0	0	0	0	0	0	1	12604	1335	47	4		4	PROKR1	2	68882252	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	59286403	68882252	174317121	13	166											
GPR17	0	broad.mit.edu	37	chr2	128408804	128408804	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggctgtggccatggccccGctgctggtgagcccacagac	5	7	15	14	1	0	2	0	1	0	1	0	2	0	2	4	4	2	3	4	4	0	0			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:128408804G>A	ENST00000544369.1	+	4	1190	c.579G>A	c.(577-579)ccG>ccA	p.P193P	LIMS2_ENST00000410011.1_Intron|GPR17_ENST00000486700.1_3'UTR|GPR17_ENST00000393018.3_Silent_p.P193P|LIMS2_ENST00000324938.5_Intron|LIMS2_ENST00000545738.2_Intron|GPR17_ENST00000272644.3_Silent_p.P193P|LIMS2_ENST00000409455.1_Intron|LIMS2_ENST00000409808.2_Intron|LIMS2_ENST00000355119.4_Intron	NM_001161415.1	NP_001154887.1	Q13304	GPR17_HUMAN	G protein-coupled receptor 17	193						integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled	p.P193P(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		CCATGGCCCCGCTGCTGGTGA	0.667													45	106					0	0	0.000147903	0	0	A	128408804	G	A	128408804	2	1	3	1	0	0	0	0	0	0	0	1	6707	1074	38	1		1	GPR17	2	128408804	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	59526552	128408804	114790569	14	167											
FAM126B	285172	broad.mit.edu	37	chr2	201846109	201846109	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgacctagccggtcttcctGcagactgacagttgagtatc	8	12	10	11	1	1	4	0	3	1	1	3	4	2	4	3	1	2	3	3	1	2	5			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr2:201846109G>A	ENST00000418596.2	-	12	1664	c.1477C>T	c.(1477-1479)Cag>Tag	p.Q493*	AC005037.3_ENST00000413848.1_RNA	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B	493						intracellular		p.Q493*(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						CGGTCTTCCTGCAGACTGACA	0.512													33	60					0	0	0.000279167	0	0	A	201846109	G	A	201846109	4	1	3	1	0	0	0	0	0	1	0	0	5461	1328	46	2	119	2	FAM126B	2	201846109	Nonsense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	73437305	201846109	41353264	15	168											
MYH15	22989	broad.mit.edu	37	chr3	108117984	108117984	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacacctgccggttggcacAgctaagctggagttccatct	8	10	11	12	1	1	1	0	1	1	0	2	2	2	2	3	3	3	5	3	3	1	3			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:108117984A>T	ENST00000273353.3	-	35	4983	c.4927T>A	c.(4927-4929)Tgt>Agt	p.C1643S		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1643						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.C1643S(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CGGTTGGCACAGCTAAGCTGG	0.488													66	96					0	0	0.000147903	0	0	T	108117984	A	T	108117984	3	4	3	1	0	0	0	0	1	0	0	0	10082	188	7	5	945	5	MYH15	3	108117984	Missense_Mutation	SNP	A	TCGA-CH-5739-01A-11D-1576-08		108117984	89904446	16	169											
SRPRB	58477	broad.mit.edu	37	chr3	133525537	133525537	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgattccgggaaaacgttgcTctttgtcagggtaaatgatt	10	14	11	6	2	2	2	1	2	1	0	3	3	3	3	1	2	2	3	1	2	4	5			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr3:133525537T>G	ENST00000466490.2	+	3	524	c.239T>G	c.(238-240)cTc>cGc	p.L80R		NM_021203.3	NP_067026.3	Q9Y5M8	SRPRB_HUMAN	signal recognition particle receptor, B subunit	80						endoplasmic reticulum membrane|integral to membrane	GTP binding|protein binding|receptor activity	p.L80R(1)		breast(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2)	12						AAAACGTTGCTCTTTGTCAGG	0.403													21	165					0	0	0.000132079	0	0	G	133525537	T	G	133525537	3	3	3	1	0	0	0	0	1	0	0	0	15219	1551	54	5	245	5	SRPRB	3	133525537	Missense_Mutation	SNP	T	TCGA-CH-5739-01A-11D-1576-08	25407553	133525537	64496893	17	170											
SEPSECS	51091	broad.mit.edu	37	chr4	25160704	25160704	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagttcaagtgtactttcaTcccagccattctctggacac	10	12	7	12	0	3	1	2	0	1	1	5	2	4	2	2	1	2	2	2	1	2	4			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr4:25160704T>C	ENST00000382103.2	-	2	212	c.140A>G	c.(139-141)gAt>gGt	p.D47G	SEPSECS_ENST00000302922.3_Intron	NM_016955.3	NP_058651.3	Q9HD40	SPCS_HUMAN	Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase	47					selenocysteine incorporation	cytoplasm|nucleus	pyridoxal phosphate binding|transferase activity, transferring selenium-containing groups|tRNA binding	p.D47G(2)		endometrium(1)|large_intestine(4)|lung(2)|stomach(1)	8		Breast(46;0.173)			Pyridoxal Phosphate(DB00114)	TGTACTTTCATCCCAGCCATT	0.363													9	44					0	0	0.00047179	0	0	C	25160704	T	C	25160704	3	2	3	1	0	0	0	0	1	0	0	0	14112	1435	50	3	1405	3	SEPSECS	4	25160704	Missense_Mutation	SNP	T	TCGA-CH-5739-01A-11D-1576-08		25160704	165993572	18	171											
ARHGEF37	389337	broad.mit.edu	37	chr5	149011707	149011707	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgtgccttctggcttcttgGccagggctcggagcccagtt	4	12	13	12	1	2	0	0	0	2	0	3	1	2	1	3	4	2	3	3	4	0	4			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr5:149011707G>C	ENST00000333677.6	+	13	2144	c.1981G>C	c.(1981-1983)Gcc>Ccc	p.A661P		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	661	SH3 2.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	p.A661P(1)		large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						TGGCTTCTTGGCCAGGGCTCG	0.592													3	93					0	0	0.00024832	0	0	C	149011707	G	C	149011707	3	2	3	1	0	0	0	0	1	0	0	0	903	1203	42	4	2027	4	ARHGEF37	5	149011707	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08		149011707	31903553	19	172											
SDK1	221935	broad.mit.edu	37	chr7	3990604	3990604	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaaccattgtggttcccccGggcaacagaagtgtggtggc	8	8	13	12	1	0	1	0	0	0	1	1	1	1	1	4	4	2	2	4	4	3	2			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:3990604G>A	ENST00000404826.2	+	6	1036	c.897G>A	c.(895-897)ccG>ccA	p.P299P	SDK1_ENST00000389531.3_Silent_p.P299P	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	299	Ig-like C2-type 3.				cell adhesion	integral to membrane		p.P299P(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TGGTTCCCCCGGGCAACAGAA	0.522													36	68					0	0	0.000125731	0	0	A	3990604	G	A	3990604	2	1	3	1	0	0	0	0	0	0	0	1	14022	1103	39	1		1	SDK1	7	3990604	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08		3990604	155148059	20	173											
CLEC5A	23601	broad.mit.edu	37	chr7	141635653	141635653	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaattgccaatgtggatccTtttcctttgcaaaagtccct	10	14	6	11	0	0	0	0	0	0	0	3	1	3	1	4	1	2	1	4	1	4	4			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:141635653T>C	ENST00000546910.1	-	5	502	c.306A>G	c.(304-306)aaA>aaG	p.K102K	CLEC5A_ENST00000439991.1_Intron|CLEC5A_ENST00000438351.1_Silent_p.K79K|CLEC5A_ENST00000470595.1_Intron|CLEC5A_ENST00000551012.2_Silent_p.K79K	NM_013252.2	NP_037384.1	Q9NY25	CLC5A_HUMAN	C-type lectin domain family 5, member A	102	C-type lectin.				anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development	cell surface|integral to plasma membrane	sugar binding|viral receptor activity	p.K102K(1)		endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					ATGTGGATCCTTTTCCTTTGC	0.448													43	168					0	0	0.000589545	0	0	C	141635653	T	C	141635653	2	2	3	1	0	0	0	0	0	0	0	1	3542	1606	56	3		3	CLEC5A	7	141635653	Silent	SNP	T	TCGA-CH-5739-01A-11D-1576-08	137645049	141635653	17503010	21	174											
NCAPG2	54892	broad.mit.edu	37	chr7	158451099	158451099	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagggatcttgcagcgatcaTcctaaaagcgaaaaaagaaa	19	6	9	7	2	2	1	1	0	1	1	3	4	3	2	1	1	3	1	1	1	7	2			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr7:158451099T>A	ENST00000409339.3	-	17	2104	c.1989_splice	c.e17-1	p.D664_splice	NCAPG2_ENST00000356309.3_Splice_Site_p.D664_splice|NCAPG2_ENST00000409423.1_Splice_Site_p.D664_splice|NCAPG2_ENST00000275830.10_Splice_Site_p.D456_splice|NCAPG2_ENST00000449727.2_Splice_Site_p.D664_splice|NCAPG2_ENST00000541468.1_Splice_Site_p.D165_splice			Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	664					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding	p.D664V(1)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		GCAGCGATCATCCTAAAAGCG	0.383													14	31					0	0	0.000308642	0	0	A	158451099	T	A	158451099	5	1	3	1	0	0	0	0	0	0	1	0	10255	1449	50	5	1488	5	NCAPG2	7	158451099	Splice_Site	SNP	T	TCGA-CH-5739-01A-11D-1576-08	16815446	158451099	687564	22	175											
ZHX2	22882	broad.mit.edu	37	chr8	123964946	123964946	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catcacacttgccgtggcagGagtcaccaaccatggccaga	11	6	10	14	1	2	1	2	0	0	1	2	2	2	2	4	3	2	1	4	3	1	1			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:123964946G>T	ENST00000314393.4	+	3	2031	c.1196G>T	c.(1195-1197)gGa>gTa	p.G399V		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	399	Required for interaction with NFYA.|Required for nuclear localization.|Required for repressor activity.					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G399V(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			GCCGTGGCAGGAGTCACCAAC	0.627													25	57					5.61819e-17	1.237e-15	0.000117367	1	0	T	123964946	G	T	123964946	3	4	3	1	0	0	0	0	1	0	0	0	17734	1174	41	4	1198	4	ZHX2	8	123964946	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08		123964946	22399076	23	176											
FER1L6	654463	broad.mit.edu	37	chr8	125072891	125072891	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaaggtgtgaagtcctgcGtgatccagagctacaagaac	13	7	12	9	1	0	4	0	2	0	2	2	5	2	4	2	1	4	1	2	1	5	1	rs138376786	byFrequency	TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:125072891G>A	ENST00000522917.1	+	24	3294	c.3088G>A	c.(3088-3090)Gtg>Atg	p.V1030M	FER1L6_ENST00000399018.1_Missense_Mutation_p.V1030M|FER1L6-AS2_ENST00000520031.1_RNA|FER1L6-AS2_ENST00000601180.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1030						integral to membrane		p.V1030M(2)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GAAGTCCTGCGTGATCCAGAG	0.547													8	137					0	0	0.000274275	0	0	A	125072891	G	A	125072891	3	1	3	1	0	0	0	0	1	0	0	0	5848	1145	40	1	3178	1	FER1L6	8	125072891	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	1107945	125072891	21291131	24	177											
COL22A1	169044	broad.mit.edu	37	chr8	139788238	139788238	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgagttcccttttcacctcGttctccttggagaccctggg	4	14	9	14	2	2	1	1	0	1	1	6	3	3	1	4	2	0	2	4	2	0	5			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr8:139788238G>A	ENST00000303045.6	-	16	2220	c.1774C>T	c.(1774-1776)Cga>Tga	p.R592*	COL22A1_ENST00000435777.1_Nonsense_Mutation_p.R592*	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	592	Collagen-like 3.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TTTTCACCTCGTTCTCCTTGG	0.493										HNSCC(7;0.00092)			6	232					0	0	8.12818e-05	0	0	A	139788238	G	A	139788238	4	1	3	1	0	0	0	0	0	1	0	0	3704	1153	40	1	3306	1	COL22A1	8	139788238	Nonsense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	14715347	139788238	6575784	25	178											
TGFBR1	7046	broad.mit.edu	37	chr9	101900330	101900330	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatcaaactgtaatgttacGtcatgaaaacatcctgggat	14	13	7	7	1	2	1	2	1	0	0	3	2	3	2	1	1	3	2	1	1	6	3			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr9:101900330G>T	ENST00000374994.4	+	4	881	c.764G>T	c.(763-765)cGt>cTt	p.R255L	TGFBR1_ENST00000550253.1_Missense_Mutation_p.R186L|TGFBR1_ENST00000552516.1_Missense_Mutation_p.R259L|TGFBR1_ENST00000374990.2_Missense_Mutation_p.R178L	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	255	Protein kinase.				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding	p.R255L(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				GTAATGTTACGTCATGAAAAC	0.378													55	132					4.96213e-28	1.13302e-26	0.000147903	1	0	T	101900330	G	T	101900330	3	4	3	1	0	0	0	0	1	0	0	0	15881	1145	40	4	778	4	TGFBR1	9	101900330	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08		101900330	39313101	26	179											
LRIT2	340745	broad.mit.edu	37	chr10	85981837	85981837	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgcgatgaagacagccgcGcaggacccacttgctgcagc	9	5	12	15	3	0	2	0	1	0	1	0	4	0	3	3	1	5	3	3	1	1	1			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr10:85981837G>A	ENST00000372113.4	-	3	1497	c.1492C>T	c.(1492-1494)Cgc>Tgc	p.R498C	LRIT2_ENST00000538192.1_Missense_Mutation_p.R508C	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	498						integral to membrane		p.R498C(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						AGACAGCCGCGCAGGACCCAC	0.637													38	87					0	0	0.000374591	0	0	A	85981837	G	A	85981837	3	1	3	1	0	0	0	0	1	0	0	0	8993	1087	38	1	164	1	LRIT2	10	85981837	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08		85981837	49552910	27	180											
MRGPRX3	117195	broad.mit.edu	37	chr11	18159642	18159642	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagagggctctgcaggacaCgcctgaggtggatgaaggtg	9	6	17	9	1	1	3	0	2	1	1	1	5	1	5	2	5	1	2	2	5	1	0			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:18159642C>T	ENST00000396275.2	+	3	1254	c.893C>T	c.(892-894)aCg>aTg	p.T298M		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	298						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.T298M(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CTGCAGGACACGCCTGAGGTG	0.562													10	80					0	0	0.000566183	0	0	T	18159642	C	T	18159642	3	4	3	1	0	0	0	0	1	0	0	0	9817	536	19	1	895	1	MRGPRX3	11	18159642	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08		18159642	116846874	28	181											
SCGB2A2	4250	broad.mit.edu	37	chr11	62038408	62038408	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacaatcaatccacaagtGtctaagactgaatacaaaga	20	7	6	8	0	2	4	1	1	1	3	3	4	3	4	1	0	1	0	1	0	8	2			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:62038408G>C	ENST00000525380.1	+	2	170	c.111G>C	c.(109-111)gtG>gtC	p.V37V	SCGB2A2_ENST00000227918.2_Silent_p.V37V			Q13296	SG2A2_HUMAN	secretoglobin, family 2A, member 2	37						extracellular region	steroid binding	p.V37V(1)		large_intestine(1)|lung(4)|ovary(1)|prostate(1)	7						ATCCACAAGTGTCTAAGACTG	0.418													55	128					0	0	0.000147903	0	0	C	62038408	G	C	62038408	2	2	3	1	0	0	0	0	0	0	0	1	13953	1364	48	4		4	SCGB2A2	11	62038408	Silent	SNP	G	TCGA-CH-5739-01A-11D-1576-08	43878766	62038408	72968108	29	182											
TRIM49	57093	broad.mit.edu	37	chr11	89531568	89531568	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctcattctgattcttctcTttccgatacatattacagac	9	18	3	11	1	4	2	1	1	4	1	7	3	5	2	1	0	2	0	1	0	3	8	rs139075721	by1000genomes	TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr11:89531568T>C	ENST00000329758.1	-	8	1417	c.1089A>G	c.(1087-1089)aaA>aaG	p.K363K	TRIM49_ENST00000532501.2_Silent_p.K286K	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN	tripartite motif containing 49	363	B30.2/SPRY.					intracellular	zinc ion binding	p.K363K(3)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GATTCTTCTCTTTCCGATACA	0.458													6	225					0	0	3.59834e-05	0	0	C	89531568	T	C	89531568	2	2	3	1	0	0	0	0	0	0	0	1	16585	1606	56	3		3	TRIM49	11	89531568	Silent	SNP	T	TCGA-CH-5739-01A-11D-1576-08	27493160	89531568	45474948	30	183											
BTBD11	121551	broad.mit.edu	37	chr12	108008872	108008879	+	Frame_Shift_Del	DEL	ACCCCGAG	ACCCCGAG	-																															tcataaatatccatccgtccAccccgagacccgccattgga																								rs76689600		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr12:108008872_108008879delACCCCGAG	ENST00000280758.5	+	7	2462_2469	c.1934_1941delACCCCGAG	c.(1933-1941)cfs	p.HPE645fs	RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000357167.4_Frame_Shift_Del_p.HPE182fs|BTBD11_ENST00000490090.2_Frame_Shift_Del_p.HPE645fs|BTBD11_ENST00000420571.2_Frame_Shift_Del_p.HPE645fs	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	645						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CCATCCGTCCACCCCGAGACCCGCCATT	0.404													11	78	---	---	---	---						-	108008879	ACCCCGAG	-	108008872	7	5	3	1	0	1	0	1	0	0	0	0	1541	159	6	0	2065	0	BTBD11	12	108008872	Frame_Shift_Del	DEL	ACCCCGAG	TCGA-CH-5739-01A-11D-1576-08		108008872	25843023	31	184											
RNF17	56163	broad.mit.edu	37	chr13	25416253	25416253	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgaaatgactactactagtAttaatgaccagctagttaaa	16	12	6	7	0	0	3	0	3	0	0	0	3	0	3	1	0	3	3	1	0	9	7			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr13:25416253A>G	ENST00000255324.5	+	19	2609	c.2557A>G	c.(2557-2559)Att>Gtt	p.I853V	RNF17_ENST00000381921.1_Missense_Mutation_p.I853V	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	853					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	p.I853V(1)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TACTACTAGTATTAATGACCA	0.343													55	127					0	0	0.000147903	0	0	G	25416253	A	G	25416253	3	3	3	1	0	0	0	0	1	0	0	0	13513	449	16	3	2631	3	RNF17	13	25416253	Missense_Mutation	SNP	A	TCGA-CH-5739-01A-11D-1576-08		25416253	89753625	32	185											
LRCH1	23143	broad.mit.edu	37	chr13	47269054	47269054	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttcatcaggaatttcaaccgGagccttcccttttgggtgac	8	13	9	11	1	3	1	3	1	0	0	4	3	4	3	3	3	2	0	3	3	2	5			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr13:47269054G>T	ENST00000311191.6	+	9	1376	c.1147G>T	c.(1147-1149)Gag>Tag	p.E383*	LRCH1_ENST00000389798.3_Nonsense_Mutation_p.E383*|LRCH1_ENST00000389797.3_Nonsense_Mutation_p.E383*	NM_001164213.1	NP_001157685.1	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	383								p.E383*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		ATTTCAACCGGAGCCTTCCCT	0.408													84	82					7.31121e-38	1.70089e-36	0.000147903	1	0	T	47269054	G	T	47269054	4	4	3	1	0	0	0	0	0	1	0	0	8977	1175	41	4	1181	4	LRCH1	13	47269054	Nonsense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	21852801	47269054	67900824	33	186											
SLITRK5	26050	broad.mit.edu	37	chr13	88328403	88328403	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggattggttggacagcatcTcctattcagccctggtgggg	7	11	14	9	0	2	0	1	0	1	0	3	2	2	2	2	6	2	2	2	6	1	4			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr13:88328403T>C	ENST00000325089.6	+	2	979	c.760T>C	c.(760-762)Tcc>Ccc	p.S254P	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	254	LRRCT 1.					integral to membrane		p.S254P(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GGACAGCATCTCCTATTCAGC	0.507													75	242					0	0	0.000147903	0	0	C	88328403	T	C	88328403	3	2	3	1	0	0	0	0	1	0	0	0	14800	1551	54	3	762	3	SLITRK5	13	88328403	Missense_Mutation	SNP	T	TCGA-CH-5739-01A-11D-1576-08	41059349	88328403	26841475	34	187											
PAPLN	89932	broad.mit.edu	37	chr14	73731013	73731013	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagcacccggccaggccgcGactcccagaagatccaactt	10	4	10	17	3	0	2	0	0	0	2	2	3	2	2	5	2	2	2	5	2	2	1	rs145618706		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr14:73731013G>A	ENST00000427855.1	+	21	3058	c.2956G>A	c.(2956-2958)Gac>Aac	p.D986N	PAPLN_ENST00000381166.3_Missense_Mutation_p.D986N|PAPLN_ENST00000340738.5_Missense_Mutation_p.D959N|PAPLN_ENST00000554314.1_3'UTR|PAPLN_ENST00000554301.1_Missense_Mutation_p.D986N|PAPLN_ENST00000555445.1_Missense_Mutation_p.D970N			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	986	Ig-like C2-type 1.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding	p.D986N(1)|p.D959N(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		GCCAGGCCGCGACTCCCAGAA	0.647													16	38					0	0	0.00047179	0	0	A	73731013	G	A	73731013	3	1	3	1	0	0	0	0	1	0	0	0	11475	1058	37	1	2949	1	PAPLN	14	73731013	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08		73731013	33618527	35	188											
ALDH1A2	8854	broad.mit.edu	37	chr15	58306166	58306166	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accaagagagaaagccaggcGggctgcctgcactgctttgt	10	7	13	11	1	0	2	0	0	0	2	0	3	0	2	3	2	4	3	3	2	2	1			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:58306166G>A	ENST00000249750.4	-	3	1020	c.253C>T	c.(253-255)Cgc>Tgc	p.R85C	ALDH1A2_ENST00000537372.1_Missense_Mutation_p.R64C|ALDH1A2_ENST00000559517.1_5'UTR|ALDH1A2_ENST00000558231.1_Missense_Mutation_p.R56C|ALDH1A2_ENST00000347587.3_Missense_Mutation_p.R85C	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	85					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity	p.R85S(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	AAAGCCAGGCGGGCTGCCTGC	0.498													7	547					0	0	0.000274275	0	0	A	58306166	G	A	58306166	3	1	3	1	0	0	0	0	1	0	0	0	488	1116	39	1	1347	1	ALDH1A2	15	58306166	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08		58306166	44225226	36	189											
IGDCC4	57722	broad.mit.edu	37	chr15	65685846	65685846	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagctgtgtctcatttcctcGcacctcagtagagaaaatct	11	12	7	11	1	3	1	2	0	2	1	6	2	4	1	2	0	1	3	2	0	4	2	rs138576438		TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr15:65685846G>A	ENST00000352385.2	-	10	1947	c.1738C>T	c.(1738-1740)Cga>Tga	p.R580*		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	580	Fibronectin type-III 2.					integral to membrane|plasma membrane		p.R580*(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						TCATTTCCTCGCACCTCAGTA	0.552													32	83					0	0	0.00058488	0	0	A	65685846	G	A	65685846	4	1	3	1	0	0	0	0	0	1	0	0	7613	1095	38	1	2058	1	IGDCC4	15	65685846	Nonsense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	7379680	65685846	36845546	37	190											
STAT3	6774	broad.mit.edu	37	chr17	40474448	40474448	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatagcccatgatgatttcAgcaaatgacatgttgttcag	12	14	8	7	0	2	3	2	3	0	0	2	3	2	3	1	0	2	3	1	0	3	5			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:40474448A>G	ENST00000264657.5	-	21	2265	c.1953T>C	c.(1951-1953)gcT>gcC	p.A651A	STAT3_ENST00000588969.1_Silent_p.A651A|STAT3_ENST00000389272.3_Silent_p.A553A|STAT3_ENST00000585517.1_Silent_p.A651A|STAT3_ENST00000404395.3_Silent_p.A651A	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	651	SH2.				cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	p.A651A(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		TGATGATTTCAGCAAATGACA	0.473									Hyperimmunoglobulin E Recurrent Infection Syndrome				98	239					0	0	0.000147903	0	0	G	40474448	A	G	40474448	2	3	3	1	0	0	0	0	0	0	0	1	15322	175	7	3		3	STAT3	17	40474448	Silent	SNP	A	TCGA-CH-5739-01A-11D-1576-08		40474448	40720762	38	191											
COL1A1	1277	broad.mit.edu	37	chr17	48264184	48264184	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccggtagtagcggccaccatCgtgagccttctcttgaggtg	6	10	13	12	3	1	2	0	2	1	0	3	2	1	2	4	3	2	2	4	3	2	4			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:48264184C>T	ENST00000225964.5	-	48	3749	c.3631G>A	c.(3631-3633)Gat>Aat	p.D1211N		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1211	Nonhelical region (C-terminal).				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	p.D1211N(1)	COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	CGGCCACCATCGTGAGCCTTC	0.637			T	"PDGFB, USP6"	"dermatofibrosarcoma protuberans, aneurysmal bone cyst "		Osteogenesis imperfecta						45	122					0	0	0.000147903	0	0	T	48264184	C	T	48264184	3	4	3	1	0	0	0	0	1	0	0	0	3700	884	31	1	779	1	COL1A1	17	48264184	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08	7789736	48264184	32931026	39	192											
GAA	2548	broad.mit.edu	37	chr17	78079689	78079689	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccggcagctggacggccgcGtgctgtgagttctgggctct	3	9	17	12	4	2	1	0	1	2	0	2	2	2	2	2	4	2	5	2	4	0	1	rs145866792	byFrequency	TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr17:78079689G>T	ENST00000302262.3	+	3	907	c.688G>T	c.(688-690)Gtg>Ttg	p.V230L	GAA_ENST00000390015.3_Missense_Mutation_p.V230L	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	230					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity	p.V230L(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	GGACGGCCGCGTGCTGTGAGT	0.662													22	36					7.92952e-12	1.71528e-10	0.000586117	1	0	T	78079689	G	T	78079689	3	4	3	1	0	0	0	0	1	0	0	0	6182	1145	40	4	694	4	GAA	17	78079689	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08	29815505	78079689	3115521	40	193											
SKA1	220134	broad.mit.edu	37	chr18	47906549	47906549	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaataggagatgagatcattGtaataaatgaacttctaaat	19	12	7	3	0	2	3	1	2	1	2	2	5	2	3	0	1	1	1	0	1	8	6			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr18:47906549G>A	ENST00000285116.3	+	3	353	c.142G>A	c.(142-144)Gta>Ata	p.V48I	SKA1_ENST00000488454.1_Intron|SKA1_ENST00000417656.2_Missense_Mutation_p.V48I|SKA1_ENST00000398452.2_Missense_Mutation_p.V48I	NM_001039535.2|NM_145060.3	NP_001034624.1|NP_659497.1	Q96BD8	SKA1_HUMAN	spindle and kinetochore associated complex subunit 1	48					cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding	p.V48I(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(1)|prostate(1)	13						TGAGATCATTGTAATAAATGA	0.289													79	151					0	0	0.000147903	0	0	A	47906549	G	A	47906549	3	1	3	1	0	0	0	0	1	0	0	0	14407	1377	48	2	148	2	SKA1	18	47906549	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08		47906549	30170699	41	194											
MUC16	94025	broad.mit.edu	37	chr19	8959691	8959691	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtattctccttccttcttccGccggcgggtggtcacctatg	3	14	10	14	3	3	0	1	0	2	0	6	0	5	0	5	3	0	1	5	3	2	6			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:8959691G>A	ENST00000397910.4	-	84	43644	c.43441C>T	c.(43441-43443)Cgg>Tgg	p.R14481W	MUC16_ENST00000380951.5_Missense_Mutation_p.R1122W	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	22126	SEA 16.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.R14481W(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCCTTCTTCCGCCGGCGGGTG	0.582													8	17					0	0	0.00010058	0	0	A	8959691	G	A	8959691	3	1	3	1	0	0	0	0	1	0	0	0	10021	1086	38	1	86	1	MUC16	19	8959691	Missense_Mutation	SNP	G	TCGA-CH-5739-01A-11D-1576-08		8959691	50169292	42	195											
ZNF283	284349	broad.mit.edu	37	chr19	44352689	44352689	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcaaaacttgttcatgagAgaactcatagtaatgataaa	17	11	7	6	0	3	3	3	2	0	1	3	4	3	3	0	0	2	3	0	0	7	5			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chr19:44352689A>G	ENST00000324461.7	+	7	2233	c.1936A>G	c.(1936-1938)Aga>Gga	p.R646G	ZNF283_ENST00000588797.1_Missense_Mutation_p.R507G	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	646			R -> I (in dbSNP:rs10417624).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R646G(1)		endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				TGTTCATGAGAGAACTCATAG	0.368													5	132					0	0	0.000157383	0	0	G	44352689	A	G	44352689	3	3	3	1	0	0	0	0	1	0	0	0	17878	296	11	3	1950	3	ZNF283	19	44352689	Missense_Mutation	SNP	A	TCGA-CH-5739-01A-11D-1576-08	35392998	44352689	14776294	43	196											
FAM47B	170062	broad.mit.edu	37	chrX	34962549	34962549	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggacaggagacgccgggCggcaccgcattcttatagtg	8	7	15	11	4	1	1	0	0	1	1	1	3	1	2	2	4	0	2	2	4	2	3			TCGA-CH-5739-01A-11D-1576-08	TCGA-CH-5739-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71bae8ec-736d-4d84-8645-fbbd122caeec	c97d9803-fce4-4921-bc37-6dbe062f09d4	g.chrX:34962549C>T	ENST00000329357.5	+	1	1637	c.1601C>T	c.(1600-1602)gCg>gTg	p.A534V		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	534								p.A534V(2)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						AGACGCCGGGCGGCACCGCAT	0.502													16	57					0	0	0.000566183	0	0	T	34962549	C	T	34962549	3	4	3	1	0	0	0	0	1	0	0	0	5606	768	27	1	1603	1	FAM47B	23	34962549	Missense_Mutation	SNP	C	TCGA-CH-5739-01A-11D-1576-08		34962549	120308011	44	197											
C1orf173	127254	broad.mit.edu	37	chr1	75038884	75038884	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgctccctctgcccccCtttctatgcctggagggatc	3	12	9	17	0	2	0	0	0	2	0	4	2	3	2	5	2	4	2	5	2	1	2			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr1:75038884C>A	ENST00000326665.5	-	14	2728	c.2510G>T	c.(2509-2511)aGg>aTg	p.R837M	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	837	Glu-rich.							p.R837M(1)|p.R837K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTCTGCCCCCCTTTCTATGCC	0.562													21	227					3.5997e-14	4.05784e-14	0.624587	1	0	A	75038884	C	A	75038884	3	1	4	1	0	0	0	0	1	0	0	0	2027	681	24	4	2086	4	C1orf173	1	75038884	Missense_Mutation	SNP	C	TCGA-CH-5740-01A-11D-1576-08		75038884	174211737	1	198											
NTNG1	22854	broad.mit.edu	37	chr1	107961230	107961230	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagtttaataggatatggccGaatatttcttcccttgaggt	11	15	9	6	1	1	1	0	1	1	0	2	3	2	2	2	3	0	1	2	3	6	8			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr1:107961230G>A	ENST00000370067.1	+	6	1743	c.1116G>A	c.(1114-1116)ccG>ccA	p.P372P	NTNG1_ENST00000370074.4_Intron|NTNG1_ENST00000370073.2_Intron|NTNG1_ENST00000370072.3_Intron|NTNG1_ENST00000370066.1_Silent_p.P372P|NTNG1_ENST00000370061.3_Silent_p.P372P|NTNG1_ENST00000370065.1_Intron|NTNG1_ENST00000370071.2_Silent_p.P372P|NTNG1_ENST00000370068.1_Intron|NTNG1_ENST00000542803.1_Intron|NTNG1_ENST00000370070.2_Silent_p.P372P			Q9Y2I2	NTNG1_HUMAN	netrin G1	380	Laminin EGF-like 2.				axonogenesis	anchored to plasma membrane	protein binding	p.P372P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		GGATATGGCCGAATATTTCTT	0.368													16	26					0	0	0.520397	0	0	A	107961230	G	A	107961230	2	1	4	1	0	0	0	0	0	0	0	1	10752	1045	37	1		1	NTNG1	1	107961230	Silent	SNP	G	TCGA-CH-5740-01A-11D-1576-08	32922346	107961230	141289391	2	199											
OVGP1	5016	broad.mit.edu	37	chr1	111969101	111969101	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggtagagaattttctcaTcctggagatccttagcaaca	11	12	9	9	0	1	2	1	0	1	2	4	4	3	2	2	2	2	2	2	2	4	4			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr1:111969101T>C	ENST00000369732.3	-	3	273	c.218A>G	c.(217-219)gAt>gGt	p.D73G	OVGP1_ENST00000540696.1_Missense_Mutation_p.D13G	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	73					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity	p.D73G(1)|p.D115G(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		AATTTTCTCATCCTGGAGATC	0.428													11	201					0	0	0.435327	0	0	C	111969101	T	C	111969101	3	2	4	1	0	0	0	0	1	0	0	0	11372	1435	50	3	1854	3	OVGP1	1	111969101	Missense_Mutation	SNP	T	TCGA-CH-5740-01A-11D-1576-08	4007871	111969101	137281520	3	200											
AP4B1	10717	broad.mit.edu	37	chr1	114442814	114442814	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagcaaaggtcccttgacccGcacaaggacatcagtttgta	12	9	9	11	1	1	1	1	1	0	0	2	2	2	2	2	2	1	4	2	2	4	4			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr1:114442814G>A	ENST00000369569.1	-	5	1106	c.826C>T	c.(826-828)Cgg>Tgg	p.R276W	AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000256658.4_Missense_Mutation_p.R276W|AP4B1_ENST00000369566.3_Missense_Mutation_p.R183W|AP4B1_ENST00000369567.1_Missense_Mutation_p.R108W	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	276					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity	p.R276W(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCCTTGACCCGCACAAGGACA	0.483													5	128					0	0	0.184627	0	0	A	114442814	G	A	114442814	3	1	4	1	0	0	0	0	1	0	0	0	747	1086	38	1	1417	1	AP4B1	1	114442814	Missense_Mutation	SNP	G	TCGA-CH-5740-01A-11D-1576-08	2473713	114442814	134807807	4	201											
LCE2D	353141	broad.mit.edu	37	chr1	152636733	152636733	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcttcctgctgtggtcccaGctctgggagctgctgtggtc	2	13	13	13	0	2	0	0	0	2	0	5	1	4	1	2	3	4	4	2	3	0	1			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr1:152636733G>T	ENST00000368784.1	+	2	207	c.152G>T	c.(151-153)aGc>aTc	p.S51I		NM_178430.2	NP_848517.1	Q5TA82	LCE2D_HUMAN	late cornified envelope 2D	51	Cys-rich.				keratinization			p.S51I(1)		large_intestine(1)|lung(7)|prostate(2)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTGGTCCCAGCTCTGGGAGC	0.647													109	191					5.67207e-43	6.63525e-43	0.870114	1	0	T	152636733	G	T	152636733	3	4	4	1	0	0	0	0	1	0	0	0	8707	971	34	4	154	4	LCE2D	1	152636733	Missense_Mutation	SNP	G	TCGA-CH-5740-01A-11D-1576-08	38193919	152636733	96613888	5	202											
AIM2	9447	broad.mit.edu	37	chr1	159033301	159033301	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgctatgaactccagatGtcagctgtagtttttctcca	8	15	9	9	0	2	2	1	1	1	1	4	2	3	2	2	1	3	4	2	1	3	4			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr1:159033301G>A	ENST00000368130.4	-	5	1268	c.980C>T	c.(979-981)aCa>aTa	p.T327I		NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	327	HIN-200.				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus		p.T327I(1)		breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					AACTCCAGATGTCAGCTGTAG	0.423													91	348					0	0	0.870114	0	0	A	159033301	G	A	159033301	3	1	4	1	0	0	0	0	1	0	0	0	429	1377	48	2	59	2	AIM2	1	159033301	Missense_Mutation	SNP	G	TCGA-CH-5740-01A-11D-1576-08	6396568	159033301	90217320	6	203											
CR1L	1379	broad.mit.edu	37	chr1	207870862	207870862	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccccagtatgtcagccacctCcagatgtcctgcatgctgag	8	9	9	15	0	1	2	1	1	0	1	3	2	3	2	6	0	3	3	6	0	1	1			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr1:207870862C>A	ENST00000508064.2	+	6	937	c.877C>A	c.(877-879)Cca>Aca	p.P293T	CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	293	Sushi 5.					cytoplasm|extracellular region|membrane		p.P293T(1)|p.P301T(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TCAGCCACCTCCAGATGTCCT	0.478													110	249					2.77839e-60	3.3127e-60	0.870114	1	0	A	207870862	C	A	207870862	3	1	4	1	0	0	0	0	1	0	0	0	3864	855	30	4	899	4	CR1L	1	207870862	Missense_Mutation	SNP	C	TCGA-CH-5740-01A-11D-1576-08	48837561	207870862	41379759	7	204											
CD46	4179	broad.mit.edu	37	chr1	207932991	207932991	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttctcatttagttattacTtaattggtgaagaaattcta	12	20	5	4	0	2	2	1	1	2	1	3	2	2	2	0	1	1	1	0	1	7	10			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr1:207932991T>G	ENST00000358170.2	+	4	553	c.397T>G	c.(397-399)Tta>Gta	p.L133V	CD46_ENST00000322918.5_Missense_Mutation_p.L133V|CD46_ENST00000357714.1_Missense_Mutation_p.L133V|CD46_ENST00000360212.2_Missense_Mutation_p.L133V|CD46_ENST00000480003.1_Missense_Mutation_p.L133V|CD46_ENST00000367047.1_Missense_Mutation_p.L70V|CD46_ENST00000367041.1_Missense_Mutation_p.L133V|CD46_ENST00000441839.2_Missense_Mutation_p.L133V|CD46_ENST00000361067.1_Missense_Mutation_p.L133V|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000367042.1_Missense_Mutation_p.L133V|CD46_ENST00000322875.4_Missense_Mutation_p.L133V|CD46_ENST00000354848.1_Missense_Mutation_p.L133V	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	133	Sushi 2.				complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity	p.L133V(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						TAGTTATTACTTAATTGGTGA	0.279													23	45					0	0	0.624587	0	0	G	207932991	T	G	207932991	3	3	4	1	0	0	0	0	1	0	0	0	3040	1606	56	5	411	5	CD46	1	207932991	Missense_Mutation	SNP	T	TCGA-CH-5740-01A-11D-1576-08	62129	207932991	41317630	8	205											
HEATR1	55127	broad.mit.edu	37	chr1	236760202	236760202	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctctgcagctaccagcgcCgacactatggtagaagcata	11	8	9	13	2	1	1	0	0	1	1	2	2	2	1	3	1	5	4	3	1	5	4			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr1:236760202C>G	ENST00000366582.3	-	6	792	c.678G>C	c.(676-678)tcG>tcC	p.S226S	HEATR1_ENST00000366581.2_Silent_p.S226S|HEATR1_ENST00000483073.1_5'UTR	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	226					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	p.S226S(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CTACCAGCGCCGACACTATGG	0.448													3	116					0	0	0.115264	0	0	G	236760202	C	G	236760202	2	3	4	1	0	0	0	0	0	0	0	1	7068	639	23	4		4	HEATR1	1	236760202	Silent	SNP	C	TCGA-CH-5740-01A-11D-1576-08	28827211	236760202	12490419	9	206											
TFB2M	64216	broad.mit.edu	37	chr1	246729167	246729167	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	taggtgtggaggtctacttgGttttcccaaatagatttgcg	8	15	12	6	1	1	1	0	0	1	1	2	2	2	2	1	4	2	1	1	4	4	7			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr1:246729167G>C	ENST00000366514.4	-	1	459	c.274C>G	c.(274-276)Cca>Gca	p.P92A	TFB2M_ENST00000544618.1_Missense_Mutation_p.P92A	NM_022366.2	NP_071761.1	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial	92					positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity	p.P92A(1)		breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)			GGTCTACTTGGTTTTCCCAAA	0.473													3	137					0	0	0.115264	0	0	C	246729167	G	C	246729167	3	2	4	1	0	0	0	0	1	0	0	0	15854	1261	44	4	948	4	TFB2M	1	246729167	Missense_Mutation	SNP	G	TCGA-CH-5740-01A-11D-1576-08	9968965	246729167	2521454	10	207											
OR11L1	391189	broad.mit.edu	37	chr1	248004290	248004290	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacatttccttctcatgacCtttctaacagcttctttgaa	9	16	3	13	0	3	2	1	2	3	0	5	2	4	2	3	0	2	1	3	0	2	6			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr1:248004290C>A	ENST00000355784.2	-	1	964	c.909G>T	c.(907-909)aaG>aaT	p.K303N		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K303N(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TTCTCATGACCTTTCTAACAG	0.378													49	57					9.58827e-17	1.10088e-16	0.870114	1	0	A	248004290	C	A	248004290	3	1	4	1	0	0	0	0	1	0	0	0	10978	680	24	4	63	4	OR11L1	1	248004290	Missense_Mutation	SNP	C	TCGA-CH-5740-01A-11D-1576-08	1275123	248004290	1246331	11	208											
MECOM	2122	broad.mit.edu	37	chr3	168807995	168807995	+	Frame_Shift_Del	DEL	T	T	-																															tttgactggtcaccaaagccTtttcatctttaaaatgactg																										TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr3:168807995delT	ENST00000464456.1	-	13	3803	c.2603delA	c.(2602-2604)agfs	p.K868fs	MECOM_ENST00000264674.3_Frame_Shift_Del_p.K942fs|MECOM_ENST00000392736.3_Frame_Shift_Del_p.K877fs|MECOM_ENST00000472280.1_Frame_Shift_Del_p.K878fs|MECOM_ENST00000468789.1_Frame_Shift_Del_p.K877fs|MECOM_ENST00000494292.1_Frame_Shift_Del_p.K1056fs|MECOM_ENST00000460814.1_Frame_Shift_Del_p.K868fs|MECOM_ENST00000433243.2_Frame_Shift_Del_p.K878fs	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CACCAAAGCCTTTTCATCTTT	0.318													38	286	---	---	---	---						-	168807995	T	-	168807995	7	5	4	1	0	1	0	1	0	0	0	0	9472	1609	56	0	537	0	MECOM	3	168807995	Frame_Shift_Del	DEL	T	TCGA-CH-5740-01A-11D-1576-08		168807995	29214435	12	209											
MUC4	4585	broad.mit.edu	37	chr3	195515854	195515854	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaaaggtgccggggacgatcGaagacgccattcctgtgctt	9	8	14	10	4	0	1	0	0	0	1	2	5	1	2	3	3	2	1	3	3	2	2			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr3:195515854G>A	ENST00000463781.3	-	2	3056	c.2597C>T	c.(2596-2598)tCg>tTg	p.S866L	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.S866L	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	871	Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.S866L(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGGGACGATCGAAGACGCCAT	0.592													4	54					0	0	0.184627	0	0	A	195515854	G	A	195515854	3	1	4	1	0	0	0	0	1	0	0	0	10026	1059	37	1		1	MUC4	3	195515854	Missense_Mutation	SNP	G	TCGA-CH-5740-01A-11D-1576-08	26707859	195515854	2506576	13	210											
CYTL1	54360	broad.mit.edu	37	chr4	5016888	5016888	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagttcccttagcgctgaCgatctggcaggaccgtagtc	7	10	11	13	3	2	1	1	1	1	0	4	3	3	2	2	2	1	4	2	2	2	3			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr4:5016888C>T	ENST00000307746.4	-	4	427	c.401G>A	c.(400-402)cGt>cAt	p.R134H		NM_018659.2	NP_061129.1	Q9NRR1	CYTL1_HUMAN	cytokine-like 1	134					signal transduction	extracellular space|soluble fraction	receptor binding	p.R134H(1)		breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		TTAGCGCTGACGATCTGGCAG	0.493													37	66					0	0	0.834066	0	0	T	5016888	C	T	5016888	3	4	4	1	0	0	0	0	1	0	0	0	4231	536	19	1	13	1	CYTL1	4	5016888	Missense_Mutation	SNP	C	TCGA-CH-5740-01A-11D-1576-08		5016888	186137388	14	211											
ADAMTS3	9508	broad.mit.edu	37	chr4	73186511	73186511	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagagtggttgagatcagatCtttgctgttgggacgcccag	8	11	14	8	1	2	3	1	1	1	3	2	5	2	4	1	2	1	3	1	2	0	3			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr4:73186511C>G	ENST00000286657.4	-	7	1058	c.1022G>C	c.(1021-1023)aGa>aCa	p.R341T		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	341	Peptidase M12B.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	p.R341T(2)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GAGATCAGATCTTTGCTGTTG	0.443													10	227					0	0	0.361761	0	0	G	73186511	C	G	73186511	3	3	4	1	0	0	0	0	1	0	0	0	266	913	32	4	2659	4	ADAMTS3	4	73186511	Missense_Mutation	SNP	C	TCGA-CH-5740-01A-11D-1576-08	68169623	73186511	117967765	15	212											
FAT4	79633	broad.mit.edu	37	chr4	126373735	126373735	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caagtgtctgccaggatatgCgggtagctggtgtgaaatag	10	10	15	6	1	1	1	0	1	1	0	1	2	1	2	1	3	3	2	1	3	5	3			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr4:126373735C>T	ENST00000394329.3	+	9	11577	c.11564C>T	c.(11563-11565)gCg>gTg	p.A3855V	FAT4_ENST00000335110.5_Missense_Mutation_p.A2153V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3855	EGF-like 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A3855V(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCAGGATATGCGGGTAGCTGG	0.473													3	73					0	0	0.150653	0	0	T	126373735	C	T	126373735	3	4	4	1	0	0	0	0	1	0	0	0	5725	768	27	1	11598	1	FAT4	4	126373735	Missense_Mutation	SNP	C	TCGA-CH-5740-01A-11D-1576-08	53187224	126373735	64780541	16	213											
EFHC1	114327	broad.mit.edu	37	chr6	52285247	52285247	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catggcttgccctttcttccGggcacgtcctttaaggactc	5	13	9	14	2	1	0	0	0	1	0	4	1	3	1	3	3	1	2	3	3	1	5			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr6:52285247G>A	ENST00000371068.5	+	1	142	c.39G>A	c.(37-39)ccG>ccA	p.P13P	EFHC1_ENST00000433625.2_5'UTR|EFHC1_ENST00000491749.1_3'UTR	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	13						axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding	p.P13P(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					CCTTTCTTCCGGGCACGTCCT	0.622													3	72					0	0	0.115264	0	0	A	52285247	G	A	52285247	2	1	4	1	0	0	0	0	0	0	0	1	4972	1103	39	1		1	EFHC1	6	52285247	Silent	SNP	G	TCGA-CH-5740-01A-11D-1576-08		52285247	118829820	17	214											
MYO6	4646	broad.mit.edu	37	chr6	76604978	76604978	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaagacccaaaatgacaccGtatgtcacttacctttacct	14	10	4	13	1	1	2	1	1	0	1	1	2	1	2	4	0	2	1	4	0	6	4			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr6:76604978G>A	ENST00000369981.3	+	30	3446		c.e30+1		MYO6_ENST00000369985.4_Intron|MYO6_ENST00000369975.1_Intron|MYO6_ENST00000369977.3_Splice_Site			Q9UM54	MYO6_HUMAN	myosin VI						actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	p.?(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		AAATGACACCGTATGTCACTT	0.289													42	91					0	0	0.859065	0	0	A	76604978	G	A	76604978	5	1	4	1	0	0	0	0	0	0	1	0	10129	1159	40	1	3248	1	MYO6	6	76604978	Splice_Site	SNP	G	TCGA-CH-5740-01A-11D-1576-08	24319731	76604978	94510089	18	215											
SMPDL3A	10924	broad.mit.edu	37	chr6	123127429	123127429	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgttacaccagtgaagaGtgttttagaaaaacagacca	15	10	9	7	0	0	4	0	1	0	3	0	4	0	4	2	0	3	3	2	0	5	3			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr6:123127429G>A	ENST00000368440.4	+	7	1148	c.971G>A	c.(970-972)aGt>aAt	p.S324N	SMPDL3A_ENST00000539041.1_Missense_Mutation_p.S193N	NM_006714.3	NP_006705.1	Q92484	ASM3A_HUMAN	sphingomyelin phosphodiesterase, acid-like 3A	324					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|protein binding|sphingomyelin phosphodiesterase activity	p.S324N(1)		breast(1)|cervix(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(226;0.236)		CCAGTGAAGAGTGTTTTAGAA	0.358													14	124					0	0	0.435327	0	0	A	123127429	G	A	123127429	3	1	4	1	0	0	0	0	1	0	0	0	14862	1029	36	2	997	2	SMPDL3A	6	123127429	Missense_Mutation	SNP	G	TCGA-CH-5740-01A-11D-1576-08	46522451	123127429	47987638	19	216											
SYNE1	23345	broad.mit.edu	37	chr6	152831401	152831401	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatcttggtggtcaccttccGtttacttggtgggctgggag	4	14	15	8	1	2	0	1	0	1	0	3	2	3	1	2	5	1	2	2	5	1	5			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr6:152831401G>A	ENST00000367255.5	-	8	1109	c.508C>T	c.(508-510)Cgg>Tgg	p.R170W	SYNE1_ENST00000423061.1_Missense_Mutation_p.R177W|SYNE1_ENST00000367248.3_Missense_Mutation_p.R177W|SYNE1_ENST00000413186.2_Missense_Mutation_p.R170W|SYNE1_ENST00000466159.2_Missense_Mutation_p.R170W|SYNE1_ENST00000448038.1_Missense_Mutation_p.R177W|SYNE1_ENST00000265368.4_Missense_Mutation_p.R170W|SYNE1_ENST00000367253.4_Missense_Mutation_p.R170W|SYNE1_ENST00000341594.5_Missense_Mutation_p.R170W	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	170	Actin-binding.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.R170W(7)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTCACCTTCCGTTTACTTGGT	0.483										HNSCC(10;0.0054)			6	306					0	0	0.217242	0	0	A	152831401	G	A	152831401	3	1	4	1	0	0	0	0	1	0	0	0	15502	1144	40	1	26514	1	SYNE1	6	152831401	Missense_Mutation	SNP	G	TCGA-CH-5740-01A-11D-1576-08	29703972	152831401	18283666	20	217											
MEPCE	56257	broad.mit.edu	37	chr7	100028387	100028387	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttgcactgatgagggccAtgtagttcttgcttcgccac	7	13	10	11	1	1	2	0	2	1	0	2	2	1	2	2	1	3	4	2	1	2	6			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr7:100028387A>C	ENST00000310512.2	+	1	1134	c.746A>C	c.(745-747)cAt>cCt	p.H249P	MEPCE_ENST00000414441.1_5'UTR	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	249							methyltransferase activity	p.H249P(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GATGAGGGCCATGTAGTTCTT	0.582													18	291					0	0	0.557998	0	0	C	100028387	A	C	100028387	3	2	4	1	0	0	0	0	1	0	0	0	9527	217	8	5	748	5	MEPCE	7	100028387	Missense_Mutation	SNP	A	TCGA-CH-5740-01A-11D-1576-08		100028387	59110276	21	218											
VGF	7425	broad.mit.edu	37	chr7	100807590	100807590	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cgtctctgctgccgccgtctCctgctggcgcttggcgctac	1	11	12	17	5	2	0	0	0	2	0	4	0	2	0	3	2	4	4	3	2	1	2			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr7:100807590C>G	ENST00000249330.2	-	2	774	c.535G>C	c.(535-537)Gag>Cag	p.E179Q	VGF_ENST00000445482.2_Missense_Mutation_p.E179Q	NM_003378.3	NP_003369.2	O15240	VGF_HUMAN	VGF nerve growth factor inducible	179					response to cAMP	extracellular space|transport vesicle	growth factor activity	p.E179Q(1)		cervix(1)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	9	Lung NSC(181;0.168)|all_lung(186;0.215)					GCCGCCGTCTCCTGCTGGCGC	0.672													3	80					0	0	0.184627	0	0	G	100807590	C	G	100807590	3	3	4	1	0	0	0	0	1	0	0	0	17217	864	30	4	1316	4	VGF	7	100807590	Missense_Mutation	SNP	C	TCGA-CH-5740-01A-11D-1576-08	779203	100807590	58331073	22	219											
KLF10	7071	broad.mit.edu	37	chr8	103664291	103664291	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtaaggtggagtcaaacacTaaagaaaagggaaatacata	20	7	10	4	0	1	1	1	0	0	1	1	3	1	3	0	3	2	1	0	3	9	4			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr8:103664291T>A	ENST00000395884.3	-	3	1140		c.e3-2		KLF10_ENST00000285407.6_Splice_Site	NM_001032282.2	NP_001027453.1	Q13118	KLF10_HUMAN	Kruppel-like factor 10						cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.?(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			AGTCAAACACTAAAGAAAAGG	0.333											OREG0018913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	74					0	0	0.150653	0	0	A	103664291	T	A	103664291	5	1	4	1	0	0	0	0	0	0	1	0	8381	1536	53	5	1181	5	KLF10	8	103664291	Splice_Site	SNP	T	TCGA-CH-5740-01A-11D-1576-08		103664291	42699731	23	220											
ZHX1	11244	broad.mit.edu	37	chr8	124265827	124265827	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttgtgcttcaggtaataaTccttaagtattgcagttcca	11	15	7	8	0	1	0	1	0	0	0	3	0	3	0	2	1	2	5	2	1	4	8			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr8:124265827T>C	ENST00000395571.3	-	3	2977	c.2360A>G	c.(2359-2361)gAt>gGt	p.D787G	ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000522655.1_Missense_Mutation_p.D787G|ZHX1_ENST00000297857.2_Missense_Mutation_p.D787G	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	787					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D787G(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			CAGGTAATAATCCTTAAGTAT	0.423													6	565					0	0	0.217242	0	0	C	124265827	T	C	124265827	3	2	4	1	0	0	0	0	1	0	0	0	17733	1435	50	3	265	3	ZHX1	8	124265827	Missense_Mutation	SNP	T	TCGA-CH-5740-01A-11D-1576-08	20601536	124265827	22098195	24	221											
VPS13A	23230	broad.mit.edu	37	chr9	79981645	79981645	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atctctttatctttttagttAcatttaagtgtttcactgag	9	21	5	6	0	3	1	1	1	2	0	4	1	3	1	0	0	1	2	0	0	4	9			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr9:79981645A>T	ENST00000360280.3	+	61	8588	c.8328A>T	c.(8326-8328)ttA>ttT	p.L2776F	VPS13A_ENST00000376636.3_Missense_Mutation_p.L2737F|VPS13A_ENST00000357409.5_Missense_Mutation_p.L2776F|VPS13A_ENST00000376634.4_Missense_Mutation_p.L2776F	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2776					Golgi to endosome transport|protein transport	intracellular	protein binding	p.L2776F(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CTTTTTAGTTACATTTAAGTG	0.269													4	79					0	0	0.150653	0	0	T	79981645	A	T	79981645	3	4	4	1	0	0	0	0	1	0	0	0	17249	388	14	5	8570	5	VPS13A	9	79981645	Missense_Mutation	SNP	A	TCGA-CH-5740-01A-11D-1576-08		79981645	61231786	25	222											
SH2D3C	10044	broad.mit.edu	37	chr9	130504081	130504081	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtacctgggccatgtccaGggcacccatgaccgccgcga	8	5	12	16	3	0	1	0	1	0	0	1	2	1	1	6	2	1	2	6	2	1	1			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr9:130504081G>C	ENST00000314830.8	-	9	2187	c.2074C>G	c.(2074-2076)Ctg>Gtg	p.L692V	SH2D3C_ENST00000373274.3_Missense_Mutation_p.L532V|SH2D3C_ENST00000373277.4_Missense_Mutation_p.L535V|SH2D3C_ENST00000429553.1_Missense_Mutation_p.L338V|SH2D3C_ENST00000420366.1_Missense_Mutation_p.L534V|SH2D3C_ENST00000373276.3_Missense_Mutation_p.L624V	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	692	Ras-GEF.				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GCCATGTCCAGGGCACCCATG	0.637													15	32					0	0	0.539581	0	0	C	130504081	G	C	130504081	3	2	4	1	0	0	0	0	1	0	0	0	14288	991	35	4	524	4	SH2D3C	9	130504081	Missense_Mutation	SNP	G	TCGA-CH-5740-01A-11D-1576-08	50522436	130504081	10709350	26	223											
PTEN	5728	broad.mit.edu	37	chr10	89720826	89720826	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaacaaaaaatgatcttgAcaaagcaaataaagacaaag	23	8	5	5	0	1	3	0	2	1	1	1	3	1	3	0	0	2	1	0	0	9	4			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr10:89720826A>G	ENST00000371953.3	+	8	2334	c.977A>G	c.(976-978)gAc>gGc	p.D326G	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	326	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.?(2)|p.D326G(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.T319_K332del(1)|p.G165_*404del(1)|p.W274_F341del(1)|p.D326_K342del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AATGATCTTGACAAAGCAAAT	0.333		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			7	161					0	0	0.307466	0	0	G	89720826	A	G	89720826	3	3	4	1	0	0	0	0	1	0	0	0	12787	275	10	3	1007	3	PTEN	10	89720826	Missense_Mutation	SNP	A	TCGA-CH-5740-01A-11D-1576-08		89720826	45813921	27	224											
SLC5A12	159963	broad.mit.edu	37	chr11	26734248	26734248	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtttgttgaatcgtagttgTaagtactaaaggaaacagaa	15	12	11	3	1	0	2	0	1	0	1	1	3	0	3	0	2	2	6	0	2	8	7			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr11:26734248T>A	ENST00000396005.3	-	2	654	c.345A>T	c.(343-345)ttA>ttT	p.L115F	SLC5A12_ENST00000280467.6_Missense_Mutation_p.L115F	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	115					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	p.L115F(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						ATCGTAGTTGTAAGTACTAAA	0.428													8	453					0	0	0.27861	0	0	A	26734248	T	A	26734248	3	1	4	1	0	0	0	0	1	0	0	0	14719	1635	57	5	1567	5	SLC5A12	11	26734248	Missense_Mutation	SNP	T	TCGA-CH-5740-01A-11D-1576-08		26734248	108272268	28	225											
OR5L2	26338	broad.mit.edu	37	chr11	55595427	55595427	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccacctgtgcctcccacCtcacagccatcactgtctcc	6	10	4	21	0	4	0	2	0	2	0	7	0	5	0	7	0	2	0	7	0	0	0			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr11:55595427C>A	ENST00000378397.1	+	1	733	c.733C>A	c.(733-735)Ctc>Atc	p.L245I		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L245I(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TGCCTCCCACCTCACAGCCAT	0.498										HNSCC(27;0.073)			5	179					0.000602214	0.000666737	0.184627	1	0	A	55595427	C	A	55595427	3	1	4	1	0	0	0	0	1	0	0	0	11218	681	24	4	735	4	OR5L2	11	55595427	Missense_Mutation	SNP	C	TCGA-CH-5740-01A-11D-1576-08	28861179	55595427	79411089	29	226											
AQP2	359	broad.mit.edu	37	chr12	50349301	50349301	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgctgaagggcctggagccGgacaccgattgggaggagcg	8	5	19	9	3	0	1	0	1	0	0	0	6	0	5	3	5	3	1	3	5	1	1			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr12:50349301G>A	ENST00000199280.3	+	4	811	c.726G>A	c.(724-726)ccG>ccA	p.P242P	RP11-469H8.6_ENST00000550530.1_RNA|RP11-469H8.8_ENST00000552806.1_RNA|RP11-469H8.6_ENST00000552379.1_RNA	NM_000486.5	NP_000477.1	P41181	AQP2_HUMAN	aquaporin 2 (collecting duct)	242					cellular response to copper ion|cellular response to mercury ion|excretion	apical plasma membrane|integral to membrane|transport vesicle membrane	glycerol transmembrane transporter activity|water channel activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10						GCCTGGAGCCGGACACCGATT	0.692													3	33					0	0	0.150653	0	0	A	50349301	G	A	50349301	2	1	4	1	0	0	0	0	0	0	0	1	823	1103	39	1		1	AQP2	12	50349301	Silent	SNP	G	TCGA-CH-5740-01A-11D-1576-08		50349301	83502594	30	227											
UBC	7316	broad.mit.edu	37	chr12	125398090	125398090	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtcttcacgaagatttgcatCccacctctgagacggagcac	10	9	9	13	2	3	2	1	1	2	2	4	5	4	3	2	1	2	2	2	1	1	2			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr12:125398090C>T	ENST00000536769.1	-	1	1804	c.228G>A	c.(226-228)ggG>ggA	p.G76G	UBC_ENST00000339647.5_Silent_p.G76G|UBC_ENST00000546120.1_Silent_p.G76G|UBC_ENST00000538617.1_Silent_p.G76G			P0CG48	UBC_HUMAN	ubiquitin C	76	Ubiquitin-like 1.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	p.G76G(1)		breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		AGATTTGCATCCCACCTCTGA	0.532													8	346					0	0	0.307466	0	0	T	125398090	C	T	125398090	2	4	4	1	0	0	0	0	0	0	0	1	16903	842	30	2		2	UBC	12	125398090	Silent	SNP	C	TCGA-CH-5740-01A-11D-1576-08	75048789	125398090	8453805	31	228											
RNF17	56163	broad.mit.edu	37	chr13	25376711	25376711	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttttatggaactagcaaagTaagtaacttattaaaactta	17	15	5	4	0	0	0	0	0	0	0	0	1	0	1	0	1	4	3	0	1	10	9			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr13:25376711T>A	ENST00000255324.5	+	14	2001		c.e14+2		RNF17_ENST00000255325.5_Splice_Site|RNF17_ENST00000381921.1_Splice_Site	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17						multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	p.?(4)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		ACTAGCAAAGTAAGTAACTTA	0.323													5	183					0	0	0.184627	0	0	A	25376711	T	A	25376711	5	1	4	1	0	0	0	0	0	0	1	0	13513	1652	57	5	2005	5	RNF17	13	25376711	Splice_Site	SNP	T	TCGA-CH-5740-01A-11D-1576-08		25376711	89793167	32	229											
PCSK6	5046	broad.mit.edu	37	chr15	101938639	101938639	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccatactcgaaagcctgcttAgccagtcggccgggcccgtc	7	7	11	16	4	0	0	0	0	0	0	3	1	0	0	5	2	4	1	5	2	3	2			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr15:101938639A>C	ENST00000348070.1	-	8	962	c.963T>G	c.(961-963)gcT>gcG	p.A321A	PCSK6_ENST00000358417.3_Silent_p.A321A|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000344273.2_Silent_p.A321A|PCSK6_ENST00000331826.7_Silent_p.A156A|PCSK6_ENST00000398181.2_Silent_p.A321A	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	322	Catalytic.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity	p.A321A(3)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AAGCCTGCTTAGCCAGTCGGC	0.552													7	171					0	0	0.335167	0	0	C	101938639	A	C	101938639	2	2	4	1	0	0	0	0	0	0	0	1	11651	407	15	5		5	PCSK6	15	101938639	Silent	SNP	A	TCGA-CH-5740-01A-11D-1576-08		101938639	592753	33	230											
CDH8	1006	broad.mit.edu	37	chr16	61935093	61935093	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatacatacccaaaatggaCatttctggcacagtagcatg	14	9	8	10	0	1	0	0	0	1	0	1	1	1	1	1	2	3	4	1	2	5	4			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr16:61935093C>A	ENST00000577390.1	-	3	1491	c.537G>T	c.(535-537)atG>atT	p.M179I	CDH8_ENST00000584337.1_Missense_Mutation_p.M179I|CDH8_ENST00000299345.6_Missense_Mutation_p.M179I|CDH8_ENST00000577730.1_Missense_Mutation_p.M179I	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	179	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.M179I(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CCAAAATGGACATTTCTGGCA	0.383													5	193					0.184627	0.19736	0.184627	1	0	A	61935093	C	A	61935093	3	1	4	1	0	0	0	0	1	0	0	0	3138	478	17	4	1902	4	CDH8	16	61935093	Missense_Mutation	SNP	C	TCGA-CH-5740-01A-11D-1576-08		61935093	28419660	34	231											
POLDIP2	26073	broad.mit.edu	37	chr17	26680002	26680002	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggatgggaacctgatcagtGgaggtgtaggggaggatgtc	9	9	19	4	0	1	1	1	1	0	0	2	6	1	6	1	7	1	1	1	7	2	1			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr17:26680002G>A	ENST00000540200.1	-	7	554	c.555C>T	c.(553-555)tcC>tcT	p.S185S	POLDIP2_ENST00000003607.4_5'UTR	NM_015584.3	NP_056399.1	Q9Y2S7	PDIP2_HUMAN	polymerase (DNA-directed), delta interacting protein 2	186						mitochondrial nucleoid|nucleus						all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		CCTGATCAGTGGAGGTGTAGG	0.488													17	41					0	0	0.592651	0	0	A	26680002	G	A	26680002	2	1	4	1	0	0	0	0	0	0	0	1	12242	1335	47	2		2	POLDIP2	17	26680002	Silent	SNP	G	TCGA-CH-5740-01A-11D-1576-08		26680002	54515208	35	232											
GLTSCR1	29998	broad.mit.edu	37	chr19	48202015	48202015	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atgtctaccagggcgccctcCcctcccccagtgactaccac	7	7	7	20	1	1	1	0	1	1	0	3	1	3	1	7	1	2	0	7	1	2	2			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr19:48202015C>T	ENST00000396720.3	+	12	3567	c.3373C>T	c.(3373-3375)Ccc>Tcc	p.P1125S	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	1125							protein binding	p.P1125S(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		GGGCGCCCTCCCCTCCCCCAG	0.682											OREG0025594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	9					0	0	0.184627	0	0	T	48202015	C	T	48202015	3	4	4	1	0	0	0	0	1	0	0	0	6516	623	22	2	3411	2	GLTSCR1	19	48202015	Missense_Mutation	SNP	C	TCGA-CH-5740-01A-11D-1576-08		48202015	10926968	36	233											
VRK3	51231	broad.mit.edu	37	chr19	50511057	50511058	+	Frame_Shift_Ins	INS	-	-	G																															gtcttctgagggctgcttttINSgggggttgggggtctgctcc																										TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr19:50511057_50511058insG	ENST00000599538.1	-	5	979_980	c.315_316insC	c.(313-318)ccaaagfs	p.PK105fs	VRK3_ENST00000601912.1_Frame_Shift_Ins_p.PK55fs|VRK3_ENST00000601341.1_Frame_Shift_Ins_p.PK55fs|VRK3_ENST00000594948.1_Frame_Shift_Ins_p.PK105fs|VRK3_ENST00000594092.1_Frame_Shift_Ins_p.PK105fs|VRK3_ENST00000593919.1_Frame_Shift_Ins_p.PK105fs|VRK3_ENST00000377011.2_Frame_Shift_Ins_p.PK55fs|VRK3_ENST00000424804.2_5'UTR|VRK3_ENST00000316763.3_Frame_Shift_Ins_p.PK105fs|VRK3_ENST00000443401.2_5'UTR			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	105			P -> T (in dbSNP:rs11547882).			nucleus	ATP binding|protein kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		GGGCTGCTTTTGGGGGTTGGGG	0.564													7	251	---	---	---	---						G	50511058	-	G	50511057	7	5	4	1	0	1	1	0	0	0	0	0	17281	1821	63	0	1148	0	VRK3	19	50511057	Frame_Shift_Ins	INS	-	TCGA-CH-5740-01A-11D-1576-08	2309042	50511057	8617926	37	234											
RRBP1	6238	broad.mit.edu	37	chr20	17639555	17639555	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttttgccttggttgggaCtcctttctgcctttttgccc	1	20	8	12	0	1	0	0	0	1	0	2	1	2	1	4	2	3	1	4	2	0	8			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr20:17639555C>G	ENST00000377813.1	-	3	1901	c.1598G>C	c.(1597-1599)aGt>aCt	p.S533T	RRBP1_ENST00000360807.4_Intron|RRBP1_ENST00000455029.2_Intron|RRBP1_ENST00000377807.2_Intron|RRBP1_ENST00000246043.4_Missense_Mutation_p.S533T			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	533	41 X 10 AA approximate tandem repeats of [TN]-Q-[GSA]-[KRQT]-K-[ATGSV]-[ED]- [GTAS]-[ATIS]-[PQTAS].				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						TTGGTTGGGACTCCTTTCTGC	0.522													4	156					0	0	0.150653	0	0	G	17639555	C	G	17639555	3	3	4	1	0	0	0	0	1	0	0	0	13730	580	20	4		4	RRBP1	20	17639555	Missense_Mutation	SNP	C	TCGA-CH-5740-01A-11D-1576-08		17639555	45385965	38	235											
XKR7	343702	broad.mit.edu	37	chr20	30584459	30584459	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttcagcattgccgcccgCggcctggccttcgcgctctt	2	11	11	17	5	2	0	1	0	1	0	3	0	2	0	4	2	2	3	4	2	0	4			TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr20:30584459C>T	ENST00000217299.3	+	3	1113	c.939C>T	c.(937-939)cgC>cgT	p.R313R		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	313						integral to membrane		p.R313R(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TTGCCGCCCGCGGCCTGGCCT	0.637													26	57					0	0	0.667858	0	0	T	30584459	C	T	30584459	2	4	4	1	0	0	0	0	0	0	0	1	17496	755	27	1		1	XKR7	20	30584459	Silent	SNP	C	TCGA-CH-5740-01A-11D-1576-08	12944904	30584459	32441061	39	236											
KIF3B	9371	broad.mit.edu	37	chr20	30904102	30904102	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaaaatcctggagcagaaaCgacaggaaattgcagagcag	18	4	12	7	1	0	3	0	0	0	3	1	6	1	5	1	2	4	3	1	2	4	1	rs149015672		TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr20:30904102C>T	ENST00000375712.3	+	3	1653	c.1486C>T	c.(1486-1488)Cga>Tga	p.R496*	KIF3B_ENST00000418717.2_Nonsense_Mutation_p.R122*	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	496					anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding	p.R496*(1)		NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GGAGCAGAAACGACAGGAAAT	0.408													63	128					0	0	0.870114	0	0	T	30904102	C	T	30904102	4	4	4	1	0	0	0	0	0	1	0	0	8343	528	19	1	1492	1	KIF3B	20	30904102	Nonsense_Mutation	SNP	C	TCGA-CH-5740-01A-11D-1576-08	319643	30904102	32121418	40	237											
TMPRSS2	0	broad.mit.edu	37	chr21	42852443	42852443	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggccgcccgcccgtagttctCgttccagtcgtcttggcaca	4	10	11	16	5	2	0	0	0	2	0	5	0	3	0	4	2	0	4	4	2	1	4	rs139092674		TCGA-CH-5740-01A-11D-1576-08	TCGA-CH-5740-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0e1221-01d3-44dc-a762-2084b3a42cc1	bbb53cc1-7aaf-42c9-b4c9-dbaf6864f414	g.chr21:42852443C>T	ENST00000398585.3	-	6	703	c.643G>A	c.(643-645)Gag>Aag	p.E215K	TMPRSS2_ENST00000332149.5_Missense_Mutation_p.E178K|TMPRSS2_ENST00000458356.1_Missense_Mutation_p.E178K	NM_001135099.1	NP_001128571.1	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	178	SRCR.				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity	p.E178K(3)	TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				CCGTAGTTCTCGTTCCAGTCG	0.572			T	"ERG, ETV1, ETV4, ETV5"	prostate								40	68					0	0	0.827153	0	0	T	42852443	C	T	42852443	3	4	4	1	0	0	0	0	1	0	0	0	16307	893	31	1	982	1	TMPRSS2	21	42852443	Missense_Mutation	SNP	C	TCGA-CH-5740-01A-11D-1576-08		42852443	5277452	41	238											
GRHL3	57822	broad.mit.edu	37	chr1	24676595	24676595	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagaacatttacaaagtctaCaagaaatgcaagcgagggtg	17	7	11	6	1	1	2	0	0	1	2	1	4	1	2	0	1	5	1	0	1	7	3			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr1:24676595C>G	ENST00000361548.4	+	15	1907	c.1677C>G	c.(1675-1677)taC>taG	p.Y559*	GRHL3_ENST00000342072.4_Nonsense_Mutation_p.Y466*|GRHL3_ENST00000356046.2_Nonsense_Mutation_p.Y513*|GRHL3_ENST00000350501.5_Nonsense_Mutation_p.Y559*|GRHL3_ENST00000236255.4_Nonsense_Mutation_p.Y564*	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	559					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.Y564*(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		ACAAAGTCTACAAGAAATGCA	0.498													3	51					0	0	1	0	0	G	24676595	C	G	24676595	4	3	5	1	0	0	0	0	0	1	0	0	6806	489	17	4	1771	4	GRHL3	1	24676595	Nonsense_Mutation	SNP	C	TCGA-CH-5741-01A-11D-1576-08		24676595	224574026	1	239											
RUNX3	864	broad.mit.edu	37	chr1	25229113	25229113	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggcagcgtggggaaggagcGgtcaaactggcgggggtcgg	7	5	22	7	4	1	0	1	0	0	0	2	2	1	2	0	9	3	1	0	9	2	0			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr1:25229113G>A	ENST00000399916.1	-	6	1228	c.790C>T	c.(790-792)Cgc>Tgc	p.R264C	RUNX3_ENST00000308873.6_Missense_Mutation_p.R250C|RUNX3_ENST00000540420.1_Missense_Mutation_p.R157C|RUNX3_ENST00000338888.3_Missense_Mutation_p.R264C|RUNX3_ENST00000496967.1_5'UTR	NM_001031680.2	NP_001026850.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	250	Pro/Ser/Thr-rich.				cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.R264C(1)|p.R250C(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		GGGAAGGAGCGGTCAAACTGG	0.637													5	202					0	0	1	0	0	A	25229113	G	A	25229113	3	1	5	1	0	0	0	0	1	0	0	0	13801	1116	39	1	503	1	RUNX3	1	25229113	Missense_Mutation	SNP	G	TCGA-CH-5741-01A-11D-1576-08	552518	25229113	224021508	2	240											
MACF1	23499	broad.mit.edu	37	chr1	39798824	39798824	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatattcatgatgaaactggAggatctcacataaaacccca	16	10	6	9	0	2	2	2	2	1	0	3	4	2	4	2	2	2	0	2	2	5	4			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr1:39798824A>G	ENST00000564288.1	+	37	7341	c.6564A>G	c.(6562-6564)ggA>ggG	p.G2188G	MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Silent_p.G628G|MACF1_ENST00000567887.1_Silent_p.G2225G|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000372915.3_Silent_p.G2193G			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2193					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATGAAACTGGAGGATCTCACA	0.358													3	154					0	0	1	0	0	G	39798824	A	G	39798824	2	3	5	1	0	0	0	0	0	0	0	1	9190	291	11	3		3	MACF1	1	39798824	Silent	SNP	A	TCGA-CH-5741-01A-11D-1576-08	14569711	39798824	209451797	3	241											
CC2D1B	200014	broad.mit.edu	37	chr1	52827241	52827241	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcctcctcctccacatcccGcatacagtctgccgccaact	7	9	4	21	2	1	0	0	0	1	0	6	0	6	0	7	0	3	1	7	0	2	1	rs149044360		TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr1:52827241G>A	ENST00000371586.2	-	4	400	c.262C>T	c.(262-264)Cgg>Tgg	p.R88W	CC2D1B_ENST00000284376.3_Missense_Mutation_p.R88W|CC2D1B_ENST00000438831.1_5'UTR	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	88								p.R88W(1)		breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						tccACATCCCGCATACAGTCT	0.587													4	93					0	0	1	0	0	A	52827241	G	A	52827241	3	1	5	1	0	0	0	0	1	0	0	0	2745	1086	38	1	2398	1	CC2D1B	1	52827241	Missense_Mutation	SNP	G	TCGA-CH-5741-01A-11D-1576-08	13028417	52827241	196423380	4	242											
SGIP1	84251	broad.mit.edu	37	chr1	67206953	67206953	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtaataatgtgtttttttttAggggtgggttctttgttggc	5	21	13	2	0	1	0	0	0	1	0	1	0	1	0	0	4	0	4	0	4	3	10			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr1:67206953A>T	ENST00000371037.4	+	24	2376		c.e24-1		SGIP1_ENST00000371035.3_Splice_Site|SGIP1_ENST00000371036.3_Splice_Site|SGIP1_ENST00000371039.1_Splice_Site|SGIP1_ENST00000435165.2_Splice_Site|SGIP1_ENST00000237247.6_Splice_Site	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1						positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						GTTTTTTTTTAGGGGTGGGTT	0.373													4	221					0	0	1	0	0	T	67206953	A	T	67206953	5	4	5	1	0	0	0	0	0	0	1	0	14260	434	15	5	2392	5	SGIP1	1	67206953	Splice_Site	SNP	A	TCGA-CH-5741-01A-11D-1576-08	14379712	67206953	182043668	5	243											
NTRK1	4914	broad.mit.edu	37	chr1	156849827	156849827	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgctgcccattcgctggatgCcgcccgagagcatcctgtac	6	9	11	15	3	0	1	0	0	0	1	2	3	1	2	4	1	5	4	4	1	1	2			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr1:156849827C>T	ENST00000368196.3	+	15	2185	c.2065C>T	c.(2065-2067)Ccg>Tcg	p.P689S	NTRK1_ENST00000392302.2_Missense_Mutation_p.P659S|NTRK1_ENST00000524377.1_Missense_Mutation_p.P695S|NTRK1_ENST00000358660.3_Missense_Mutation_p.P692S|NTRK1_ENST00000531606.1_3'UTR	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	695	Protein kinase.				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.P695S(3)|p.P659S(2)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	TCGCTGGATGCCGCCCGAGAG	0.647			T	"TPM3, TPR, TFG"	papillary thyroid					TSP Lung(10;0.080)			4	96					0	0	1	0	0	T	156849827	C	T	156849827	3	4	5	1	0	0	0	0	1	0	0	0	10754	739	26	2	2275	2	NTRK1	1	156849827	Missense_Mutation	SNP	C	TCGA-CH-5741-01A-11D-1576-08	89642874	156849827	92400794	6	244											
CACNA1S	779	broad.mit.edu	37	chr1	201061108	201061108	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	actgccacccactaggcaccCccgacaccagccggaggggt	9	3	11	18	2	0	0	0	0	0	0	0	2	0	1	6	4	2	1	6	4	1	1			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr1:201061108C>A	ENST00000362061.3	-	4	759	c.533G>T	c.(532-534)gGg>gTg	p.G178V	CACNA1S_ENST00000367338.3_Missense_Mutation_p.G178V	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	178					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	p.G178V(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	ACTAGGCACCCCCGACACCAG	0.612													3	69					0.115264	0.121175	1	1	0	A	201061108	C	A	201061108	3	1	5	1	0	0	0	0	1	0	0	0	2565	623	22	4	5252	4	CACNA1S	1	201061108	Missense_Mutation	SNP	C	TCGA-CH-5741-01A-11D-1576-08	44211281	201061108	48189513	7	245											
ATP2B4	493	broad.mit.edu	37	chr1	203681221	203681221	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggggatgacttcctgtgctTagaaggcaaagaattcaacc	12	10	11	8	0	1	3	1	1	0	2	2	4	2	4	2	3	2	2	2	3	5	3			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr1:203681221T>C	ENST00000357681.5	+	13	3288	c.2165T>C	c.(2164-2166)tTa>tCa	p.L722S	ATP2B4_ENST00000367219.3_Missense_Mutation_p.L710S|ATP2B4_ENST00000367218.3_Missense_Mutation_p.L722S|ATP2B4_ENST00000391954.2_Missense_Mutation_p.L722S|ATP2B4_ENST00000341360.2_Missense_Mutation_p.L722S	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	722					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TTCCTGTGCTTAGAAGGCAAA	0.547													3	168					0	0	1	0	0	C	203681221	T	C	203681221	3	2	5	1	0	0	0	0	1	0	0	0	1141	1764	61	3	2211	3	ATP2B4	1	203681221	Missense_Mutation	SNP	T	TCGA-CH-5741-01A-11D-1576-08	2620113	203681221	45569400	8	246											
CDK18	5129	broad.mit.edu	37	chr1	205493463	205493463	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgcccaagccgctcagccGcatgtcccgccgggcctccc	4	6	10	21	4	2	0	1	0	1	0	4	0	4	0	7	1	3	2	7	1	1	0			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr1:205493463G>A	ENST00000360066.2	+	4	678	c.377G>A	c.(376-378)cGc>cAc	p.R126H	CDK18_ENST00000506784.1_Missense_Mutation_p.R156H|CDK18_ENST00000429964.2_Missense_Mutation_p.R126H|CDK18_ENST00000509056.1_Intron	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	124							ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						CCGCTCAGCCGCATGTCCCGC	0.612											OREG0014156	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	183					0	0	1	0	0	A	205493463	G	A	205493463	3	1	5	1	0	0	0	0	1	0	0	0	3156	1087	38	1	477	1	CDK18	1	205493463	Missense_Mutation	SNP	G	TCGA-CH-5741-01A-11D-1576-08	1812242	205493463	43757158	9	247											
EML4	27436	broad.mit.edu	37	chr2	42513409	42513409	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctgtcttgtgtttttgcagCctctacaaccccacgtcaga	7	13	8	13	1	3	1	1	0	2	1	3	1	3	1	3	0	4	3	3	0	2	4			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr2:42513409C>T	ENST00000318522.5	+	10	1274	c.1011_splice	c.e10-1	p.P338_splice	EML4_ENST00000402711.2_Splice_Site_p.P280_splice|EML4_ENST00000401738.3_Splice_Site_p.P349_splice	NM_019063.3	NP_061936.2	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	338					microtubule-based process|mitosis	cytoplasm|microtubule	protein binding	p.P338S(1)	EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						GTTTTTGCAGCCTCTACAACC	0.443			T	ALK	NSCLC								73	116					0	0	1	0	0	T	42513409	C	T	42513409	5	4	5	1	0	0	0	0	0	0	1	0	5127	753	26	2	1050	2	EML4	2	42513409	Splice_Site	SNP	C	TCGA-CH-5741-01A-11D-1576-08		42513409	200685964	10	248											
TRIM43	129868	broad.mit.edu	37	chr2	96260870	96260870	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agagaaatctatatgaggagGgaagaacagccttcctctgg	14	8	12	7	0	2	3	0	1	2	2	3	6	3	5	2	3	2	0	2	3	5	3			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr2:96260870G>A	ENST00000272395.2	+	3	620	c.484G>A	c.(484-486)Gga>Aga	p.G162R		NM_001164464.1|NM_138800.1	NP_001157936.1|NP_620155.1	Q96BQ3	TRI43_HUMAN	tripartite motif containing 43	162						intracellular	zinc ion binding	p.G162R(2)		breast(1)|large_intestine(3)|lung(7)|ovary(1)	12						ATATGAGGAGGGAAGAACAGC	0.398													4	76					0	0	1	0	0	A	96260870	G	A	96260870	3	1	5	1	0	0	0	0	1	0	0	0	16579	1233	43	2	490	2	TRIM43	2	96260870	Missense_Mutation	SNP	G	TCGA-CH-5741-01A-11D-1576-08	53747461	96260870	146938503	11	249											
CYP27C1	339761	broad.mit.edu	37	chr2	127958780	127958780	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaagccatctggggatggcGcctgcatacatggaggtctt	8	9	14	10	2	2	0	0	0	2	0	2	3	2	2	2	5	3	1	2	5	2	2			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr2:127958780G>T	ENST00000335247.7	-	3	436	c.306C>A	c.(304-306)ggC>ggA	p.G102G	CYP27C1_ENST00000409327.1_Silent_p.G102G	NM_001001665.3	NP_001001665.3	Q4G0S4	C27C1_HUMAN	cytochrome P450, family 27, subfamily C, polypeptide 1	102						membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		TGGGGATGGCGCCTGCATACA	0.527													6	276					0.00307968	0.00336712	1	1	0	T	127958780	G	T	127958780	2	4	5	1	0	0	0	0	0	0	0	1	4183	1074	38	4		4	CYP27C1	2	127958780	Silent	SNP	G	TCGA-CH-5741-01A-11D-1576-08	31697910	127958780	115240593	12	250											
TTN	7273	broad.mit.edu	37	chr2	179659235	179659235	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggccatatcaacggcagcaAcaacagtcgcaacagctgca	14	5	9	13	2	1	0	1	0	0	0	2	0	1	0	1	2	7	5	1	2	5	1			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr2:179659235A>T	ENST00000589042.1	-	8	1513	c.1289T>A	c.(1288-1290)gTt>gAt	p.V430D	TTN_ENST00000591111.1_Missense_Mutation_p.V430D|TTN_ENST00000342992.6_Missense_Mutation_p.V430D|TTN_ENST00000460472.2_Missense_Mutation_p.V430D|TTN_ENST00000342175.6_Missense_Mutation_p.V430D|TTN_ENST00000360870.5_Missense_Mutation_p.V430D|TTN_ENST00000359218.5_Missense_Mutation_p.V430D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	430	Ala-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.V430D(7)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACGGCAGCAACAACAGTCGC	0.458													9	151					0	0	1	0	0	T	179659235	A	T	179659235	3	4	5	1	0	0	0	0	1	0	0	0	16797	43	2	5	110119	5	TTN	2	179659235	Missense_Mutation	SNP	A	TCGA-CH-5741-01A-11D-1576-08	51700455	179659235	63540138	13	251											
COL3A1	1281	broad.mit.edu	37	chr2	189856917	189856917	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttctctttttagggtgctcGgggtaatgacggtgctcgag	5	14	14	8	3	1	1	0	1	1	0	4	2	1	1	0	4	2	3	0	4	2	5			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr2:189856917G>A	ENST00000304636.3	+	14	1129	c.959G>A	c.(958-960)cGg>cAg	p.R320Q	COL3A1_ENST00000317840.5_Missense_Mutation_p.R320Q	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	320	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.R320Q(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TAGGGTGCTCGGGGTAATGAC	0.378													30	190					0	0	1	0	0	A	189856917	G	A	189856917	3	1	5	1	0	0	0	0	1	0	0	0	3711	1116	39	1	1013	1	COL3A1	2	189856917	Missense_Mutation	SNP	G	TCGA-CH-5741-01A-11D-1576-08	10197682	189856917	53342456	14	252											
PPARG	5468	broad.mit.edu	37	chr3	12475528	12475528	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagctgctccagaaaatgAcagacctcagacagattgtc	14	7	8	12	0	1	5	1	1	0	4	3	5	2	5	3	0	2	2	3	0	3	1			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr3:12475528A>G	ENST00000397026.2	+	9	1719	c.1336A>G	c.(1336-1338)Aca>Gca	p.T446A	PPARG_ENST00000309576.6_Missense_Mutation_p.T440A|PPARG_ENST00000287820.6_Missense_Mutation_p.T468A|PPARG_ENST00000397010.2_Missense_Mutation_p.T440A|PPARG_ENST00000397000.1_3'UTR|PPARG_ENST00000539812.1_3'UTR|PPARG_ENST00000397012.2_Missense_Mutation_p.T440A|PPARG_ENST00000397015.2_Missense_Mutation_p.T440A			P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	468	Ligand-binding.				activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	p.T468A(1)	PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	CCAGAAAATGACAGACCTCAG	0.522			T	PAX8	follicular thyroid		"Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"						3	101					0	0	1	0	0	G	12475528	A	G	12475528	3	3	5	1	0	0	0	0	1	0	0	0	12344	275	10	3	1428	3	PPARG	3	12475528	Missense_Mutation	SNP	A	TCGA-CH-5741-01A-11D-1576-08		12475528	185546902	15	253											
XIRP1	165904	broad.mit.edu	37	chr3	39230128	39230128	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccgggtctcaaagagccagCgggcagacctcaccgcgttg	8	5	14	14	4	2	2	2	0	1	2	3	2	2	2	4	2	2	2	4	2	1	1			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr3:39230128C>T	ENST00000340369.3	-	2	1037	c.809G>A	c.(808-810)cGc>cAc	p.R270H	XIRP1_ENST00000396251.1_Missense_Mutation_p.R270H|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	270							actin binding	p.R270H(1)		breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		AAAGAGCCAGCGGGCAGACCT	0.677													42	73					0	0	1	0	0	T	39230128	C	T	39230128	3	4	5	1	0	0	0	0	1	0	0	0	17489	768	27	1	4726	1	XIRP1	3	39230128	Missense_Mutation	SNP	C	TCGA-CH-5741-01A-11D-1576-08	26754600	39230128	158792302	16	254											
CCDC51	79714	broad.mit.edu	37	chr3	48476330	48476330	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggtcgctcgttgctgaatgCtgtgccccagggctcttccc	4	11	12	14	2	1	1	0	1	1	0	4	1	2	1	3	2	3	5	3	2	1	2			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr3:48476330C>T	ENST00000395694.2	-	2	294	c.209G>A	c.(208-210)aGc>aAc	p.S70N	CCDC51_ENST00000395696.1_Missense_Mutation_p.S70N|CCDC51_ENST00000442740.1_5'UTR|CCDC51_ENST00000447018.1_5'UTR|CCDC51_ENST00000412398.2_5'UTR	NM_001256964.1	NP_001243893.1	Q96ER9	CCD51_HUMAN	coiled-coil domain containing 51	70						integral to membrane				endometrium(4)|kidney(4)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TTGCTGAATGCTGTGCCCCAG	0.612													4	176					0	0	1	0	0	T	48476330	C	T	48476330	3	4	5	1	0	0	0	0	1	0	0	0	2841	797	28	2	1038	2	CCDC51	3	48476330	Missense_Mutation	SNP	C	TCGA-CH-5741-01A-11D-1576-08	9246202	48476330	149546100	17	255											
KCNIP4	80333	broad.mit.edu	37	chr4	20751288	20751288	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aataatccagagcttacctcGaaactcacagctccattgtg	13	10	6	12	1	1	1	1	0	0	1	4	2	3	1	3	0	4	2	3	0	4	3			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr4:20751288G>A	ENST00000382148.3	-	4	687	c.351C>T	c.(349-351)ttC>ttT	p.F117F	PACRGL_ENST00000507634.1_Intron|KCNIP4_ENST00000382152.2_Silent_p.F142F|KCNIP4_ENST00000359001.5_Silent_p.F80F|KCNIP4_ENST00000382150.4_Silent_p.F121F|KCNIP4_ENST00000382149.4_5'UTR|KCNIP4_ENST00000509207.1_Silent_p.F80F|KCNIP4_ENST00000447367.2_Silent_p.F108F	NM_001035003.1	NP_001030175.1	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4	142	EF-hand 1; degenerate.					plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity	p.F121F(2)|p.F108F(2)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				AGCTTACCTCGAAACTCACAG	0.358													22	85					0	0	1	0	0	A	20751288	G	A	20751288	2	1	5	1	0	0	0	0	0	0	0	1	8086	1049	37	1		1	KCNIP4	4	20751288	Silent	SNP	G	TCGA-CH-5741-01A-11D-1576-08		20751288	170402988	18	256											
ATG12	9140	broad.mit.edu	37	chr5	115177236	115177236	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagctgcaacacagactgcGgctcctccgccatcttgctt	8	9	9	15	2	1	1	0	0	1	1	3	2	3	1	3	1	5	4	3	1	2	2			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr5:115177236G>A	ENST00000509910.1	-	1	319	c.14C>T	c.(13-15)cCg>cTg	p.P5L	AP3S1_ENST00000316788.7_5'UTR|ATG12_ENST00000274459.4_Missense_Mutation_p.P52L|ATG12_ENST00000500945.2_Missense_Mutation_p.P5L			O94817	ATG12_HUMAN	autophagy related 12	5					autophagic vacuole assembly|negative regulation of type I interferon production	pre-autophagosomal structure membrane	protein binding	p.P52L(1)		endometrium(2)|kidney(1)|lung(1)|prostate(1)	5		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;7.59e-08)|Epithelial(69;7.05e-07)|all cancers(49;3.11e-05)		CACAGACTGCGGCTCCTCCGC	0.607													81	92					0	0	1	0	0	A	115177236	G	A	115177236	3	1	5	1	0	0	0	0	1	0	0	0	1089	1116	39	1	424	1	ATG12	5	115177236	Missense_Mutation	SNP	G	TCGA-CH-5741-01A-11D-1576-08		115177236	65738024	19	257											
PCDHA5	0	broad.mit.edu	37	chr5	140202486	140202486	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgatcagcgtgtctgacCgtgactcaggtgccaacggg	7	9	13	12	3	4	3	2	3	2	0	4	3	4	3	2	2	3	0	2	2	1	0			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr5:140202486C>T	ENST00000529859.1	+	1	1126	c.1126C>T	c.(1126-1128)Cgt>Tgt	p.R376C	PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.R376C|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.R376C	NM_018908.2	NP_061731.1												p.R376S(2)|p.R376C(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGTCTGACCGTGACTCAGG	0.542													14	186					0	0	1	0	0	T	140202486	C	T	140202486	3	4	5	1	0	0	0	0	1	0	0	0	11574	652	23	1	1128	1	PCDHA5	5	140202486	Missense_Mutation	SNP	C	TCGA-CH-5741-01A-11D-1576-08	25025250	140202486	40712774	20	258											
SUN1	23353	broad.mit.edu	37	chr7	888226	888226	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agattgtgaatccgaaagctAtaagtcaaaaagccatgaat	18	9	8	6	1	1	3	1	2	0	1	2	4	2	3	2	0	2	1	2	0	7	3			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr7:888226A>G	ENST00000456758.2	+	9	1004	c.1004A>G	c.(1003-1005)tAt>tGt	p.Y335C	SUN1_ENST00000401592.1_Intron|SUN1_ENST00000405266.1_Intron|SUN1_ENST00000452783.2_Intron|SUN1_ENST00000389574.3_Intron|SUN1_ENST00000425407.2_Intron|SUN1_ENST00000413514.2_Missense_Mutation_p.Y25C			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	0					cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCCGAAAGCTATAAGTCAAAA	0.328													65	154					0	0	1	0	0	G	888226	A	G	888226	3	3	5	1	0	0	0	0	1	0	0	0	15447	464	16	3		3	SUN1	7	888226	Missense_Mutation	SNP	A	TCGA-CH-5741-01A-11D-1576-08		888226	158250437	21	259											
DLX5	1749	broad.mit.edu	37	chr7	96653697	96653697	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcccggcggagccgttcAcgccgtgatactgatactgg	7	8	13	13	5	1	2	1	2	0	0	2	3	2	3	3	3	4	2	3	3	2	3	rs149635296	byFrequency	TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr7:96653697A>T	ENST00000222598.4	-	1	712	c.239T>A	c.(238-240)gTg>gAg	p.V80E	DLX5_ENST00000493764.1_5'UTR|DLX5_ENST00000486603.2_Missense_Mutation_p.V80E	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	80					cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.V80E(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					GGAGCCGTTCACGCCGTGATA	0.612													22	58					0	0	1	0	0	T	96653697	A	T	96653697	3	4	5	1	0	0	0	0	1	0	0	0	4602	159	6	5	642	5	DLX5	7	96653697	Missense_Mutation	SNP	A	TCGA-CH-5741-01A-11D-1576-08	95765471	96653697	62484966	22	260											
DENND2A	27147	broad.mit.edu	37	chr7	140301371	140301371	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	catctttgtccccttctccgGcatgtttgaacgttctccgg	4	15	8	14	3	3	1	0	1	3	0	6	1	4	1	4	2	1	3	4	2	1	4			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr7:140301371G>A	ENST00000275884.6	-	2	1244	c.827C>T	c.(826-828)gCc>gTc	p.A276V	DENND2A_ENST00000537639.1_Missense_Mutation_p.A276V|DENND2A_ENST00000496613.1_Missense_Mutation_p.A276V|DENND2A_ENST00000492720.1_Missense_Mutation_p.A276V			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	276										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					CCCTTCTCCGGCATGTTTGAA	0.582													5	386					0	0	1	0	0	A	140301371	G	A	140301371	3	1	5	1	0	0	0	0	1	0	0	0	4457	1203	42	2	2274	2	DENND2A	7	140301371	Missense_Mutation	SNP	G	TCGA-CH-5741-01A-11D-1576-08	43647674	140301371	18837292	23	261											
RGS20	8601	broad.mit.edu	37	chr8	54791832	54791832	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccagtccttcccgcctgcAcagctcccagactcgcccgc	5	6	7	23	3	0	1	0	0	0	1	4	1	3	1	7	0	2	2	7	0	0	1			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr8:54791832A>T	ENST00000297313.3	+	2	272	c.180A>T	c.(178-180)gcA>gcT	p.A60A	RGS20_ENST00000344277.6_Intron	NM_170587.2	NP_733466.1	O76081	RGS20_HUMAN	regulator of G-protein signaling 20	60					negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|nucleus|plasma membrane	GTPase activator activity|protein binding|signal transducer activity	p.A60A(1)		breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			TCCCGCCTGCACAGCTCCCAG	0.597													88	166					0	0	1	0	0	T	54791832	A	T	54791832	2	4	5	1	0	0	0	0	0	0	0	1	13353	146	6	5		5	RGS20	8	54791832	Silent	SNP	A	TCGA-CH-5741-01A-11D-1576-08		54791832	91572190	24	262											
SULF1	23213	broad.mit.edu	37	chr8	70498706	70498706	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taattacactgtttgtcgcaAtggcatcaaagaaaagcatg	15	11	8	7	1	1	1	1	0	0	1	2	1	1	1	0	1	2	4	0	1	6	3			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr8:70498706A>G	ENST00000260128.4	+	7	1244	c.527A>G	c.(526-528)aAt>aGt	p.N176S	SULF1_ENST00000402687.4_Missense_Mutation_p.N176S|SULF1_ENST00000458141.2_Missense_Mutation_p.N176S|SULF1_ENST00000419716.3_Missense_Mutation_p.N176S	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	176					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	p.N176S(1)		breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GTTTGTCGCAATGGCATCAAA	0.388													16	293					0	0	1	0	0	G	70498706	A	G	70498706	3	3	5	1	0	0	0	0	1	0	0	0	15426	101	4	3	537	3	SULF1	8	70498706	Missense_Mutation	SNP	A	TCGA-CH-5741-01A-11D-1576-08	15706874	70498706	75865316	25	263											
RBM12B	389677	broad.mit.edu	37	chr8	94746488	94746488	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggaaatgctcctggggtgaCtgcctgaagtcctcctcagg	7	9	13	12	1	1	2	1	2	0	0	4	3	4	3	4	4	2	1	4	4	2	0			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr8:94746488C>G	ENST00000399300.2	-	3	2364	c.2151G>C	c.(2149-2151)caG>caC	p.Q717H	RBM12B_ENST00000517700.1_Intron|RBM12B_ENST00000520961.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	717							nucleotide binding|RNA binding	p.Q717H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			CCTGGGGTGACTGCCTGAAGT	0.627													145	235					0	0	1	0	0	G	94746488	C	G	94746488	3	3	5	1	0	0	0	0	1	0	0	0	13166	564	20	4	858	4	RBM12B	8	94746488	Missense_Mutation	SNP	C	TCGA-CH-5741-01A-11D-1576-08	24247782	94746488	51617534	26	264											
ANXA13	312	broad.mit.edu	37	chr8	124705463	124705463	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ataggcttgaaaggtggctcGtaactgcttgtagctcctct	8	13	11	9	1	1	1	0	1	1	0	3	1	2	1	1	3	3	6	1	3	4	5			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr8:124705463G>A	ENST00000262219.6	-	9	806	c.739C>T	c.(739-741)Cga>Tga	p.R247*	ANXA13_ENST00000419625.1_Nonsense_Mutation_p.R206*	NM_001003954.1	NP_001003954.1	P27216	ANX13_HUMAN	annexin A13	206					cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding	p.R247*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			AAGGTGGCTCGTAACTGCTTG	0.448													9	404					0	0	1	0	0	A	124705463	G	A	124705463	4	1	5	1	0	0	0	0	0	1	0	0	711	1153	40	1	350	1	ANXA13	8	124705463	Nonsense_Mutation	SNP	G	TCGA-CH-5741-01A-11D-1576-08	29958975	124705463	21658559	27	265											
CYC1	1537	broad.mit.edu	37	chr8	145150822	145150822	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgctggcggcagggggtgcGgggctggccatggctctgca	4	7	20	10	2	1	0	0	0	1	0	1	0	1	0	1	8	3	5	1	8	0	0			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr8:145150822G>A	ENST00000318911.4	+	2	289	c.216G>A	c.(214-216)gcG>gcA	p.A72A		NM_001916.3	NP_001907.2	P08574	CY1_HUMAN	cytochrome c-1	72					respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding	p.A72A(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAGGGGGTGCGGGGCTGGCCA	0.652											OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	67					0	0	1	0	0	A	145150822	G	A	145150822	2	1	5	1	0	0	0	0	0	0	0	1	4158	1103	39	1		1	CYC1	8	145150822	Silent	SNP	G	TCGA-CH-5741-01A-11D-1576-08	20445359	145150822	1213200	28	266											
TRAF2	7186	broad.mit.edu	37	chr9	139815644	139815644	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaggaagctgtggctggccGcatacccgccatcttctccc	6	8	10	17	2	2	0	0	0	2	0	3	1	2	1	5	3	2	3	5	3	2	2			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr9:139815644G>A	ENST00000359662.3	+	9	1316	c.1271G>A	c.(1270-1272)cGc>cAc	p.R424H	TRAF2_ENST00000247668.2_Missense_Mutation_p.R372H|TRAF2_ENST00000536468.1_Missense_Mutation_p.R372H			Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	372	MATH.				activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		GTGGCTGGCCGCATACCCGCC	0.592													4	67					0	0	1	0	0	A	139815644	G	A	139815644	3	1	5	1	0	0	0	0	1	0	0	0	16499	1087	38	1	1145	1	TRAF2	9	139815644	Missense_Mutation	SNP	G	TCGA-CH-5741-01A-11D-1576-08		139815644	1397787	29	267											
ANK3	288	broad.mit.edu	37	chr10	61827718	61827718	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caactaagtcccaggtgatcGgctactattgccatcctgat	10	11	8	12	1	0	2	0	2	0	0	3	2	2	2	3	2	3	1	3	2	4	4	rs138073935		TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr10:61827718G>A	ENST00000280772.1	-	38	12485	c.12294C>T	c.(12292-12294)gcC>gcT	p.A4098A	ANK3_ENST00000373827.2_Silent_p.A1479A|ANK3_ENST00000355288.2_Silent_p.A619A|ANK3_ENST00000503366.1_Silent_p.A1486A	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	4098	Death.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CCAGGTGATCGGCTACTATTG	0.373													4	304					0	0	1	0	0	A	61827718	G	A	61827718	2	1	5	1	0	0	0	0	0	0	0	1	618	1103	39	1		1	ANK3	10	61827718	Silent	SNP	G	TCGA-CH-5741-01A-11D-1576-08		61827718	73707029	30	268											
HSPA12A	259217	broad.mit.edu	37	chr10	118441315	118441315	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgctaccttcctccagctcGgaccagatttctcctatgac	8	11	6	16	2	1	2	0	1	1	1	5	3	3	3	5	1	2	2	5	1	2	4			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr10:118441315G>T	ENST00000369209.3	-	8	1013	c.909C>A	c.(907-909)tcC>tcA	p.S303S		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	303							ATP binding	p.S924S(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		CCTCCAGCTCGGACCAGATTT	0.478											OREG0020558	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	73					1	1	1	1	0	T	118441315	G	T	118441315	2	4	5	1	0	0	0	0	0	0	0	1	7447	1103	39	4		4	HSPA12A	10	118441315	Silent	SNP	G	TCGA-CH-5741-01A-11D-1576-08	56613597	118441315	17093432	31	269											
OR52E4	390081	broad.mit.edu	37	chr11	5905957	5905957	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	accaataaaaccatcagtatCctagcttctgtggttgttgg	11	13	8	9	0	2	0	1	0	1	0	3	0	3	0	3	2	2	4	3	2	5	6			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr11:5905957C>T	ENST00000316987.2	+	1	457	c.435C>T	c.(433-435)atC>atT	p.I145I		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I145I(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCATCAGTATCCTAGCTTCTG	0.453													6	256					0	0	1	0	0	T	5905957	C	T	5905957	2	4	5	1	0	0	0	0	0	0	0	1	11164	845	30	2		2	OR52E4	11	5905957	Silent	SNP	C	TCGA-CH-5741-01A-11D-1576-08		5905957	129100559	32	270											
DNAJC4	3338	broad.mit.edu	37	chr11	64000258	64000258	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccagttgaggcagcagcaaCacaaacaaaacaaacaagtg	19	3	8	11	0	0	1	0	1	0	0	0	1	0	1	1	1	6	4	1	1	6	1			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr11:64000258C>A	ENST00000321685.3	+	5	913	c.448C>A	c.(448-450)Cac>Aac	p.H150N	DNAJC4_ENST00000355040.4_Intron|DNAJC4_ENST00000321460.5_Missense_Mutation_p.H151N|RP11-783K16.14_ENST00000539963.1_RNA|RP11-783K16.14_ENST00000534988.1_RNA	NM_005528.3	NP_005519.2	Q9NNZ3	DNJC4_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 4	150					protein folding|response to unfolded protein	integral to membrane|membrane fraction	heat shock protein binding|unfolded protein binding	p.H150N(1)|p.H109N(1)		endometrium(1)|lung(1)|prostate(1)	3						GCAGCAGCAACACAAACAAAA	0.607													3	107					0.115264	0.121175	1	1	0	A	64000258	C	A	64000258	3	1	5	1	0	0	0	0	1	0	0	0	4676	478	17	4	462	4	DNAJC4	11	64000258	Missense_Mutation	SNP	C	TCGA-CH-5741-01A-11D-1576-08	58094301	64000258	71006258	33	271											
GRM5	2915	broad.mit.edu	37	chr11	88781128	88781128	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgaacaagcgatgtcctacGttgagtcgcaaatcaagaaa	16	7	9	9	4	1	2	1	1	0	1	3	4	2	2	1	0	3	2	1	0	6	2			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr11:88781128G>A	ENST00000418177.2	-	0	280				GRM5_ENST00000455756.2_De_novo_Start_OutOfFrame|GRM5_ENST00000393294.3_De_novo_Start_OutOfFrame|GRM5_ENST00000305432.5_De_novo_Start_OutOfFrame|GRM5_ENST00000305447.4_De_novo_Start_OutOfFrame			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5						activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	GATGTCCTACGTTGAGTCGCA	0.408													14	21					0	0	1	0	0	A	88781128	G	A	88781128	1	1	5	1	0	0	0	0	0	0	0	0	6841	1160	40	1		1	GRM5	11	88781128	Translation_Start_Site	SNP	G	TCGA-CH-5741-01A-11D-1576-08	24780870	88781128	46225388	34	272											
CNTN5	53942	broad.mit.edu	37	chr11	99690380	99690380	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttccaaaaccagaccacgatAcagcagcccttcattaggaa	15	7	6	13	1	1	1	1	0	0	1	2	3	2	2	4	1	4	1	4	1	5	4			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr11:99690380A>C	ENST00000524871.1	+	4	451	c.161A>C	c.(160-162)tAc>tCc	p.Y54S	CNTN5_ENST00000418526.2_Intron|CNTN5_ENST00000279463.3_Missense_Mutation_p.Y54S|CNTN5_ENST00000527185.1_Missense_Mutation_p.Y54S|CNTN5_ENST00000528682.1_Missense_Mutation_p.Y54S	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	54					cell adhesion	anchored to membrane|plasma membrane	protein binding	p.Y54S(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AGACCACGATACAGCAGCCCT	0.428													5	188					0	0	1	0	0	C	99690380	A	C	99690380	3	2	5	1	0	0	0	0	1	0	0	0	3667	391	14	5	167	5	CNTN5	11	99690380	Missense_Mutation	SNP	A	TCGA-CH-5741-01A-11D-1576-08	10909252	99690380	35316136	35	273											
C11orf70	85016	broad.mit.edu	37	chr11	101946634	101946634	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaagactcagaaaaatatGaaatattcagccaaccagat	19	8	7	7	0	2	4	2	1	0	3	2	5	2	5	2	1	2	0	2	1	7	3			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr11:101946634G>T	ENST00000434758.2	+	5	494	c.466G>T	c.(466-468)Gaa>Taa	p.E156*	C11orf70_ENST00000534360.1_Nonstop_Mutation_p.*100L|C11orf70_ENST00000526781.1_Nonsense_Mutation_p.E156*	NM_032930.2	NP_116319.2	Q9BRQ4	CK070_HUMAN	chromosome 11 open reading frame 70	156								p.E118*(1)		breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		AGAAAAATATGAAATATTCAG	0.343													17	191					9.16793e-09	1.08952e-08	1	1	0	T	101946634	G	T	101946634	4	4	5	1	0	0	0	0	0	1	0	0	1664	1291	45	4	366	4	C11orf70	11	101946634	Nonsense_Mutation	SNP	G	TCGA-CH-5741-01A-11D-1576-08	2256254	101946634	33059882	36	274											
MIP	4284	broad.mit.edu	37	chr12	56848144	56848144	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccatatagcagaaggcaCggagcagggacatctgggag	12	5	15	9	1	1	1	0	0	1	1	1	4	1	4	1	4	3	3	1	4	3	2			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr12:56848144C>T	ENST00000257979.4	-	1	282	c.254G>A	c.(253-255)cGt>cAt	p.R85H	MIP_ENST00000555551.1_Intron	NM_012064.3	NP_036196.1	P30301	MIP_HUMAN	major intrinsic protein of lens fiber	85					response to stimulus|visual perception	gap junction|integral to plasma membrane	structural constituent of eye lens	p.R85H(1)		kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	16						GCAGAAGGCACGGAGCAGGGA	0.597													34	46					0	0	1	0	0	T	56848144	C	T	56848144	3	4	5	1	0	0	0	0	1	0	0	0	9639	536	19	1	553	1	MIP	12	56848144	Missense_Mutation	SNP	C	TCGA-CH-5741-01A-11D-1576-08		56848144	77003751	37	275											
HELB	92797	broad.mit.edu	37	chr12	66725033	66725033	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaggggccgctgccgagtgTatgtgattgcagaggagtct	7	9	16	9	2	1	2	0	1	1	1	1	4	1	3	3	3	2	3	3	3	1	2			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr12:66725033T>C	ENST00000247815.4	+	12	2829	c.2770T>C	c.(2770-2772)Tat>Cat	p.Y924H		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	924					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity	p.Y924H(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		CTGCCGAGTGTATGTGATTGC	0.532													43	99					0	0	1	0	0	C	66725033	T	C	66725033	3	2	5	1	0	0	0	0	1	0	0	0	7086	1638	57	3	2816	3	HELB	12	66725033	Missense_Mutation	SNP	T	TCGA-CH-5741-01A-11D-1576-08	9876889	66725033	67126862	38	276											
NAV3	89795	broad.mit.edu	37	chr12	78562611	78562611	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcccaggcggctattcAgggagcactgaatggtccag	8	8	14	11	1	1	1	1	1	0	0	2	2	2	2	2	4	3	3	2	4	2	2			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr12:78562611A>G	ENST00000397909.2	+	24	5119	c.4946A>G	c.(4945-4947)cAg>cGg	p.Q1649R	NAV3_ENST00000536525.2_Missense_Mutation_p.Q1649R|NAV3_ENST00000228327.6_Missense_Mutation_p.Q1649R|NAV3_ENST00000266692.7_Missense_Mutation_p.Q1472R			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1649						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GCGGCTATTCAGGGAGCACTG	0.373										HNSCC(70;0.22)			3	226					0	0	1	0	0	G	78562611	A	G	78562611	3	3	5	1	0	0	0	0	1	0	0	0	10233	188	7	3	5040	3	NAV3	12	78562611	Missense_Mutation	SNP	A	TCGA-CH-5741-01A-11D-1576-08	11837578	78562611	55289284	39	277											
ACSS3	79611	broad.mit.edu	37	chr12	81647350	81647350	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacattggccctgtggctgcTtttcgaaatgcagtgtttgt	7	15	11	8	1	0	0	0	0	0	0	1	1	0	0	1	2	3	4	1	2	2	4			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr12:81647350T>C	ENST00000548058.1	+	15	2806	c.1896T>C	c.(1894-1896)gcT>gcC	p.A632A	ACSS3_ENST00000548324.1_Silent_p.A314A|ACSS3_ENST00000261206.3_Silent_p.A631A			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	632						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						CTGTGGCTGCTTTTCGAAATG	0.433													6	207					0	0	1	0	0	C	81647350	T	C	81647350	2	2	5	1	0	0	0	0	0	0	0	1	190	1596	56	3		3	ACSS3	12	81647350	Silent	SNP	T	TCGA-CH-5741-01A-11D-1576-08	3084739	81647350	52204545	40	278											
TMEM55B	90809	broad.mit.edu	37	chr14	20927580	20927580	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggacaacgtgccaaagtgCggtctgtgaactctgtccac	10	8	12	11	2	2	1	0	1	2	0	3	3	3	2	2	2	4	0	2	2	3	0			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr14:20927580C>T	ENST00000250489.4	-	5	852	c.566G>A	c.(565-567)cGc>cAc	p.R189H	TMEM55B_ENST00000398020.4_Missense_Mutation_p.R196H|TMEM55B_ENST00000554028.1_Missense_Mutation_p.R22H			Q86T03	TM55B_HUMAN	transmembrane protein 55B	189						integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity	p.R189H(1)		endometrium(3)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)		TGCCAAAGTGCGGTCTGTGAA	0.443													5	475					0	0	1	0	0	T	20927580	C	T	20927580	3	4	5	1	0	0	0	0	1	0	0	0	16242	768	27	1	279	1	TMEM55B	14	20927580	Missense_Mutation	SNP	C	TCGA-CH-5741-01A-11D-1576-08		20927580	86421960	41	279											
DYNC1H1	1778	broad.mit.edu	37	chr14	102474613	102474613	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cggatgctctcggctgtgtcCcagcaggtgcagtgcataca	7	9	13	12	2	1	0	0	0	1	0	3	1	2	1	1	3	5	5	1	3	1	1			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr14:102474613C>A	ENST00000360184.4	+	29	6080	c.5916C>A	c.(5914-5916)tcC>tcA	p.S1972S		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1972	AAA 1 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	p.S1972S(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CGGCTGTGTCCCAGCAGGTGC	0.537													38	51					1.57019e-19	1.92173e-19	1	1	0	A	102474613	C	A	102474613	2	1	5	1	0	0	0	0	0	0	0	1	4867	610	22	4		4	DYNC1H1	14	102474613	Silent	SNP	C	TCGA-CH-5741-01A-11D-1576-08	81547033	102474613	4874927	42	280											
TIMM22	29928	broad.mit.edu	37	chr17	900589	900589	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagaaggcgatggaaagctgCgctttcaaggctgcgctggc	9	7	16	9	3	1	1	1	0	0	1	1	4	1	2	0	4	3	4	0	4	3	1			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr17:900589C>A	ENST00000327158.3	+	1	233	c.207C>A	c.(205-207)tgC>tgA	p.C69*		NM_013337.2	NP_037469.2	Q9Y584	TIM22_HUMAN	translocase of inner mitochondrial membrane 22 homolog (yeast)	69					transmembrane transport	integral to membrane|mitochondrial inner membrane	protein transporter activity	p.C69*(1)		breast(2)|endometrium(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TGGAAAGCTGCGCTTTCAAGG	0.662													3	47					0.115264	0.121175	1	1	0	A	900589	C	A	900589	4	1	5	1	0	0	0	0	0	1	0	0	15970	776	27	4	209	4	TIMM22	17	900589	Nonsense_Mutation	SNP	C	TCGA-CH-5741-01A-11D-1576-08		900589	80294621	43	281											
NLRP1	22861	broad.mit.edu	37	chr17	5418327	5418327	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaccgatgtcactcgggctAtcagctgctctcgatactgg	7	10	10	14	3	3	0	2	0	1	0	5	2	3	0	2	2	3	3	2	2	2	2			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr17:5418327A>G	ENST00000345221.3	-	16	4591	c.4037T>C	c.(4036-4038)aTa>aCa	p.I1346T	NLRP1_ENST00000577119.1_Missense_Mutation_p.I1316T|NLRP1_ENST00000354411.3_Missense_Mutation_p.I1360T|NLRP1_ENST00000262467.5_Intron|NLRP1_ENST00000269280.4_Missense_Mutation_p.I1346T|NLRP1_ENST00000572272.1_Missense_Mutation_p.I1390T	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1390					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	p.I1390T(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CACTCGGGCTATCAGCTGCTC	0.582													3	93					0	0	1	0	0	G	5418327	A	G	5418327	3	3	5	1	0	0	0	0	1	0	0	0	10518	449	16	3	319	3	NLRP1	17	5418327	Missense_Mutation	SNP	A	TCGA-CH-5741-01A-11D-1576-08	4517738	5418327	75776883	44	282											
RAB34	83871	broad.mit.edu	37	chr17	27042839	27042839	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctgcaaactgaagggaatgCccagcacctcaaatcgttcc	12	7	9	13	1	1	1	1	1	0	0	3	2	2	2	3	1	4	4	3	1	4	1			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr17:27042839C>T	ENST00000395245.3	-	4	919	c.293G>A	c.(292-294)gGc>gAc	p.G98D	RAB34_ENST00000447716.1_Missense_Mutation_p.G155D|RAB34_ENST00000395242.2_Missense_Mutation_p.G99D|RAB34_ENST00000301043.6_Missense_Mutation_p.G98D|RAB34_ENST00000436730.3_Missense_Mutation_p.G98D|RAB34_ENST00000450529.1_Missense_Mutation_p.G98D|RAB34_ENST00000415040.2_Missense_Mutation_p.G76D|RAB34_ENST00000395243.3_Missense_Mutation_p.G98D|RAB34_ENST00000453384.3_Missense_Mutation_p.G156D	NM_001256281.1|NM_031934.5	NP_001243210.1|NP_114140.4	Q9BZG1	RAB34_HUMAN	RAB34, member RAS oncogene family	98					protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2)	14	Lung NSC(42;0.00431)					GAAGGGAATGCCCAGCACCTC	0.517													4	315					0	0	1	0	0	T	27042839	C	T	27042839	3	4	5	1	0	0	0	0	1	0	0	0	12976	739	26	2	578	2	RAB34	17	27042839	Missense_Mutation	SNP	C	TCGA-CH-5741-01A-11D-1576-08	21624512	27042839	54152371	45	283											
KRT25	147183	broad.mit.edu	37	chr17	38911399	38911399	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggcactagagaagccacttCcaatccctgaaatgccacaa	15	6	7	13	0	0	2	0	1	0	1	2	3	2	2	4	1	2	1	4	1	5	2			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr17:38911399C>A	ENST00000312150.4	-	1	185	c.125G>T	c.(124-126)gGa>gTa	p.G42V		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	42	Gly-rich.|Head.					cytoplasm|intermediate filament	structural molecule activity	p.G42V(1)		endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				GAAGCCACTTCCAATCCCTGA	0.557													5	67					1.12685e-05	1.28336e-05	1	1	0	A	38911399	C	A	38911399	3	1	5	1	0	0	0	0	1	0	0	0	8505	855	30	4	1259	4	KRT25	17	38911399	Missense_Mutation	SNP	C	TCGA-CH-5741-01A-11D-1576-08	11868560	38911399	42283811	46	284											
TTC39C	125488	broad.mit.edu	37	chr18	21663014	21663014	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaaattcttccctctttaTgtttttcaagggacggatac	9	16	6	10	1	3	0	1	0	2	0	5	2	5	2	2	2	1	1	2	2	4	7			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr18:21663014T>C	ENST00000317571.3	+	6	1189	c.953T>C	c.(952-954)aTg>aCg	p.M318T	RP11-403A21.3_ENST00000578443.1_RNA|TTC39C_ENST00000304621.6_Missense_Mutation_p.M257T	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	318							binding	p.M257T(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						TCCCTCTTTATGTTTTTCAAG	0.398													71	47					0	0	1	0	0	C	21663014	T	C	21663014	3	2	5	1	0	0	0	0	1	0	0	0	16771	1464	51	3	975	3	TTC39C	18	21663014	Missense_Mutation	SNP	T	TCGA-CH-5741-01A-11D-1576-08		21663014	56414234	47	285											
DSG2	1829	broad.mit.edu	37	chr18	29122756	29122756	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcttccagagacatggccGgagctcaggcagctgctgtt	7	8	15	11	1	1	1	1	0	0	1	2	3	2	2	2	4	3	6	2	4	0	2			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr18:29122756G>A	ENST00000261590.8	+	14	2484	c.2275G>A	c.(2275-2277)Gga>Aga	p.G759R	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	759					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			AGACATGGCCGGAGCTCAGGC	0.522													4	170					0	0	1	0	0	A	29122756	G	A	29122756	3	1	5	1	0	0	0	0	1	0	0	0	4803	1117	39	1	2329	1	DSG2	18	29122756	Missense_Mutation	SNP	G	TCGA-CH-5741-01A-11D-1576-08	7459742	29122756	48954492	48	286											
TBXA2R	0	broad.mit.edu	37	chr19	3600348	3600348	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagccagggtccacggcgtgCcactcgaagagcgcggcgtg	7	4	16	14	6	0	1	0	0	0	1	2	2	1	1	3	3	3	0	3	3	1	0			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr19:3600348C>T	ENST00000375190.4	-	2	678	c.285G>A	c.(283-285)tgG>tgA	p.W95*	TBXA2R_ENST00000589966.1_Nonsense_Mutation_p.W95*|TBXA2R_ENST00000411851.3_Nonsense_Mutation_p.W95*	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor	95					platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity	p.W95*(1)		kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	CCACGGCGTGCCACTCGAAGA	0.672													3	50					0	0	1	0	0	T	3600348	C	T	3600348	4	4	5	1	0	0	0	0	0	1	0	0	15723	740	26	2	999	2	TBXA2R	19	3600348	Nonsense_Mutation	SNP	C	TCGA-CH-5741-01A-11D-1576-08		3600348	55528635	49	287											
LILRB5	0	broad.mit.edu	37	chr19	54760066	54760066	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggagcttctgtgagtacagGgtcctggggagcttctgttc	5	12	16	8	0	2	1	0	1	2	0	4	3	3	3	1	4	3	4	1	4	1	4			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr19:54760066G>T	ENST00000450632.1	-	4	545	c.468C>A	c.(466-468)acC>acA	p.T156T	LILRB5_ENST00000316219.5_Silent_p.T165T|LILRB5_ENST00000449561.2_Silent_p.T165T|LILRB5_ENST00000345866.6_Intron			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	165	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	p.T165T(1)|p.T156T(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTGAGTACAGGGTCCTGGGGA	0.557													57	105					1.54043e-34	1.97368e-34	1	1	0	T	54760066	G	T	54760066	2	4	5	1	0	0	0	0	0	0	0	1	8834	1219	43	4		4	LILRB5	19	54760066	Silent	SNP	G	TCGA-CH-5741-01A-11D-1576-08	51159718	54760066	4368917	50	288											
TCF15	6939	broad.mit.edu	37	chr20	585299	585299	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagctgccccccaggtcaCgacggccaccctgcagaggg	8	3	13	17	2	1	1	1	0	0	1	1	2	1	1	5	3	4	3	5	3	0	0			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr20:585299C>A	ENST00000246080.3	-	2	696	c.536G>T	c.(535-537)cGt>cTt	p.R179L		NM_004609.3	NP_004600.2	Q12870	TCF15_HUMAN	transcription factor 15 (basic helix-loop-helix)	179					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.R179L(1)		autonomic_ganglia(1)|lung(2)|prostate(1)	4		Breast(17;0.231)				CCCCAGGTCACGACGGCCACC	0.607													2	3					1	1	1	1	0	A	585299	C	A	585299	3	1	5	1	0	0	0	0	1	0	0	0	15748	536	19	4	67	4	TCF15	20	585299	Missense_Mutation	SNP	C	TCGA-CH-5741-01A-11D-1576-08		585299	62440221	51	289											
SNAP25	6616	broad.mit.edu	37	chr20	10277647	10277647	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggccagccagcctgctcGtgtagtggacgaacgggagc	7	6	17	11	3	0	0	0	0	0	0	1	3	0	2	3	4	5	2	3	4	2	1			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr20:10277647G>A	ENST00000254976.2	+	6	567	c.356G>A	c.(355-357)cGt>cAt	p.R119H	SNAP25_ENST00000304886.2_Missense_Mutation_p.R119H|SNAP25-AS1_ENST00000421143.2_RNA|SNAP25_ENST00000495883.1_3'UTR|SNAP25-AS1_ENST00000453544.1_RNA	NM_130811.2	NP_570824.1	P60880	SNP25_HUMAN	synaptosomal-associated protein, 25kDa	119					energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis	cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome		p.R119H(2)		endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18					Botulinum Toxin Type A(DB00083)	CAGCCTGCTCGTGTAGTGGAC	0.517													34	49					0	0	1	0	0	A	10277647	G	A	10277647	3	1	5	1	0	0	0	0	1	0	0	0	14884	1145	40	1	496	1	SNAP25	20	10277647	Missense_Mutation	SNP	G	TCGA-CH-5741-01A-11D-1576-08	9692348	10277647	52747873	52	290											
MMP24	10893	broad.mit.edu	37	chr20	33839802	33839802	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgactggacagaagtggAggcaaaaacacatcacctac	15	5	9	12	0	1	2	1	1	0	1	1	4	1	4	2	3	2	1	2	3	4	1			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr20:33839802A>G	ENST00000246186.6	+	3	575	c.490A>G	c.(490-492)Agg>Ggg	p.R164G	MMP24-AS1_ENST00000566203.1_RNA|EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000433764.1_RNA	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	164					proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	p.R164G(1)		NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)			ACAGAAGTGGAGGCAAAAACA	0.552													4	121					0	0	1	0	0	G	33839802	A	G	33839802	3	3	5	1	0	0	0	0	1	0	0	0	9710	295	11	3	250	3	MMP24	20	33839802	Missense_Mutation	SNP	A	TCGA-CH-5741-01A-11D-1576-08	23562155	33839802	29185718	53	291											
SHROOM2	357	broad.mit.edu	37	chrX	9912815	9912815	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaaaggcgtctgcaagccCagcgagtttgacaagttccg	10	8	13	10	3	1	2	0	2	1	0	2	3	2	2	2	1	3	3	2	1	3	2			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chrX:9912815C>T	ENST00000380913.3	+	9	4536	c.4446C>T	c.(4444-4446)ccC>ccT	p.P1482P	SHROOM2_ENST00000418909.2_Silent_p.P317P	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1482	ASD2.				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity	p.P1482P(1)		breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				TCTGCAAGCCCAGCGAGTTTG	0.647													3	42					0	0	1	0	0	T	9912815	C	T	9912815	2	4	5	1	0	0	0	0	0	0	0	1	14349	581	21	2		2	SHROOM2	23	9912815	Silent	SNP	C	TCGA-CH-5741-01A-11D-1576-08		9912815	145357745	54	292											
GPR64	10149	broad.mit.edu	37	chrX	19026198	19026199	+	Frame_Shift_Ins	INS	-	-	T																															cagcgatgaaggaagagtaaINSttgtgccaatactgttctca																										TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chrX:19026198_19026199insT	ENST00000379878.3	-	18	1658_1659	c.1417_1418insA	c.(1417-1419)tacfs	p.Y473fs	GPR64_ENST00000379873.2_Frame_Shift_Ins_p.Y489fs|GPR64_ENST00000379876.1_Frame_Shift_Ins_p.Y465fs|GPR64_ENST00000356606.4_Frame_Shift_Ins_p.Y475fs|GPR64_ENST00000360279.4_Frame_Shift_Ins_p.Y467fs|GPR64_ENST00000357544.3_Frame_Shift_Ins_p.Y459fs|GPR64_ENST00000357991.3_Frame_Shift_Ins_p.Y486fs|GPR64_ENST00000379869.3_Frame_Shift_Ins_p.Y489fs|GPR64_ENST00000340581.3_Intron|GPR64_ENST00000354791.3_Frame_Shift_Ins_p.Y473fs	NM_001184833.1	NP_001171762.1	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	489					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					AGGAAGAGTAATTGTGCCAATA	0.391													91	23	---	---	---	---						T	19026199	-	T	19026198	7	5	5	1	0	1	1	0	0	0	0	0	6745	101	4	0	1631	0	GPR64	23	19026198	Frame_Shift_Ins	INS	-	TCGA-CH-5741-01A-11D-1576-08	9113383	19026198	136244362	55	293											
ZMYM3	9203	broad.mit.edu	37	chrX	70471027	70471027	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acttcctcaaatcctacttaCtgctctcagtggaatctaca	11	13	4	13	0	3	0	2	0	2	0	6	1	5	1	2	1	4	1	2	1	5	4			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chrX:70471027C>A	ENST00000373998.1	-	4	1476		c.e4+1		ZMYM3_ENST00000489332.1_Splice_Site|ZMYM3_ENST00000373982.1_Splice_Site|ZMYM3_ENST00000373988.1_Splice_Site|ZMYM3_ENST00000373981.1_Splice_Site|ZMYM3_ENST00000353904.2_Splice_Site|ZMYM3_ENST00000314425.5_Splice_Site|ZMYM3_ENST00000373978.1_Splice_Site|ZMYM3_ENST00000373984.3_Splice_Site	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3						multicellular organismal development	nucleus	DNA binding|zinc ion binding	p.?(1)		breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					ATCCTACTTACTGCTCTCAGT	0.532													65	15					1.52808e-22	1.92773e-22	1	1	0	A	70471027	C	A	70471027	5	1	5	1	0	0	0	0	0	0	1	0	17759	579	20	4	3439	4	ZMYM3	23	70471027	Splice_Site	SNP	C	TCGA-CH-5741-01A-11D-1576-08	51444829	70471027	84799533	56	294											
OGT	8473	broad.mit.edu	37	chrX	70767813	70767813	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgcagtagcttggagtaaTcttggctgtgttttcaatgc	7	17	11	6	0	2	0	1	0	1	0	2	1	2	1	0	2	3	6	0	2	3	7			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chrX:70767813T>G	ENST00000373719.3	+	5	805	c.588T>G	c.(586-588)aaT>aaG	p.N196K	OGT_ENST00000373701.3_Missense_Mutation_p.N186K	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	196					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity	p.N196K(1)|p.N186K(1)		breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					CTTGGAGTAATCTTGGCTGTG	0.378													9	189					0	0	1	0	0	G	70767813	T	G	70767813	3	3	5	1	0	0	0	0	1	0	0	0	10895	1432	50	5	606	5	OGT	23	70767813	Missense_Mutation	SNP	T	TCGA-CH-5741-01A-11D-1576-08	296786	70767813	84502747	57	295											
HSD17B12	51144	broad.mit.edu	37	chr11	43876382	43876382	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacagtcggcctgcaatccCgaaccaatggatacctgatc	13	7	8	13	2	0	1	0	1	0	0	3	3	1	2	4	2	4	1	4	2	5	1			TCGA-CH-5743-01A-21D-1576-08	TCGA-CH-5743-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fac8ffea-e7f8-41d3-889f-dd24cf5dcd64	d6bb9600-d340-45e4-aac0-08db7c5ea4e8	g.chr11:43876382C>A	ENST00000278353.4	+	10	921	c.802C>A	c.(802-804)Cga>Aga	p.R268R	RP11-613D13.5_ENST00000530450.1_RNA	NM_016142.2	NP_057226.1	Q53GQ0	DHB12_HUMAN	hydroxysteroid (17-beta) dehydrogenase 12	268					long-chain fatty-acyl-CoA biosynthetic process|steroid biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	estradiol 17-beta-dehydrogenase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity			endometrium(2)|large_intestine(4)|lung(4)	10						CCTGCAATCCCGAACCAATGG	0.438													3	111					0.115264	0.139963	0.115264	1	0	A	43876382	C	A	43876382	2	1	6	1	0	0	0	0	0	0	0	1	7422	644	23	4		4	HSD17B12	11	43876382	Silent	SNP	C	TCGA-CH-5743-01A-21D-1576-08		43876382	91130134	1	296											
GOLGA2B	0	broad.mit.edu	37	chr12	100562920	100562921	+	RNA	INS	-	-	T																															caagcccatggtctcatttgINStttttttttttgttgttgtt																								rs58822438		TCGA-CH-5743-01A-21D-1576-08	TCGA-CH-5743-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fac8ffea-e7f8-41d3-889f-dd24cf5dcd64	d6bb9600-d340-45e4-aac0-08db7c5ea4e8	g.chr12:100562920_100562921insT	ENST00000397112.4	-	0	599					NR_036632.1															large_intestine(1)|lung(3)	4						GGTCTCATTTGTTTTttttttt	0.406													3	4	---	---	---	---						T	100562921	-	T	100562920	6	5	6	0	1	1	1	0	0	0	0	0	6595	1392	48	0		0	GOLGA2B	12	100562920	RNA	INS	-	TCGA-CH-5743-01A-21D-1576-08		100562920	33288975	2	297											
FANCM	57697	broad.mit.edu	37	chr14	45605353	45605353	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccctggcagctccaaggCgcctttgccagcagcagcgg	7	5	14	15	2	0	0	0	0	0	0	1	1	1	0	4	3	6	4	4	3	1	1			TCGA-CH-5743-01A-21D-1576-08	TCGA-CH-5743-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fac8ffea-e7f8-41d3-889f-dd24cf5dcd64	d6bb9600-d340-45e4-aac0-08db7c5ea4e8	g.chr14:45605353C>A	ENST00000267430.5	+	1	204	c.119C>A	c.(118-120)gCg>gAg	p.A40E	FANCM_ENST00000542564.2_Missense_Mutation_p.A40E|FANCM_ENST00000556036.1_Missense_Mutation_p.A40E	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	40					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	p.A40E(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AGCTCCAAGGCGCCTTTGCCA	0.607								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				4	83					0.150653	0.170741	0.150653	1	0	A	45605353	C	A	45605353	3	1	6	1	0	0	0	0	1	0	0	0	5704	768	27	4	121	4	FANCM	14	45605353	Missense_Mutation	SNP	C	TCGA-CH-5743-01A-21D-1576-08		45605353	61744187	3	298											
FAM189B	10712	broad.mit.edu	37	chr1	155218031	155218031	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccgtttctcggctgaccggGcacgtagcaacttgggggaa	7	8	15	11	4	1	1	0	1	1	0	2	2	1	2	2	4	2	5	2	4	3	3			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr1:155218031G>A	ENST00000361361.2	-	11	2152	c.1643C>T	c.(1642-1644)gCc>gTc	p.A548V	FAM189B_ENST00000368368.3_Missense_Mutation_p.A530V|FAM189B_ENST00000350210.2_Missense_Mutation_p.A452V	NM_006589.2	NP_006580.2	P81408	F189B_HUMAN	family with sequence similarity 189, member B	548						integral to membrane	WW domain binding	p.A548V(1)		breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						GGCTGACCGGGCACGTAGCAA	0.627													3	48					0	0	1	0	0	A	155218031	G	A	155218031	3	1	7	1	0	0	0	0	1	0	0	0	5549	1203	42	2	371	2	FAM189B	1	155218031	Missense_Mutation	SNP	G	TCGA-CH-5744-01A-11D-1576-08		155218031	94032590	1	299											
PAPPA2	60676	broad.mit.edu	37	chr1	176762740	176762740	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatcccccccagtgaccccGtgatgctacctgagaatatc	10	9	7	15	1	0	3	0	3	0	1	2	4	1	3	6	0	2	1	6	0	4	3			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr1:176762740G>A	ENST00000367662.3	+	20	6229	c.5065G>A	c.(5065-5067)Gtg>Atg	p.V1689M		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1689	Sushi 5.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.V1689M(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CAGTGACCCCGTGATGCTACC	0.473													4	133					0	0	1	0	0	A	176762740	G	A	176762740	3	1	7	1	0	0	0	0	1	0	0	0	11480	1145	40	1	5192	1	PAPPA2	1	176762740	Missense_Mutation	SNP	G	TCGA-CH-5744-01A-11D-1576-08	21544709	176762740	72487881	2	300											
CACNA1E	777	broad.mit.edu	37	chr1	181725167	181725167	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagcgccatgaattccactaCgacaacattatctgggccct	12	9	7	13	2	1	1	0	1	1	0	2	2	2	1	3	1	3	0	3	1	5	3			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr1:181725167C>T	ENST00000526775.1	+	28	4173	c.4008C>T	c.(4006-4008)taC>taT	p.Y1336Y	CACNA1E_ENST00000358338.5_Silent_p.Y1287Y|CACNA1E_ENST00000367567.4_Silent_p.Y962Y|CACNA1E_ENST00000367570.1_Silent_p.Y1355Y|CACNA1E_ENST00000367573.2_Silent_p.Y1355Y|CACNA1E_ENST00000360108.3_Silent_p.Y1336Y|CACNA1E_ENST00000357570.5_Silent_p.Y1306Y	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1355					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.Y1355Y(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AATTCCACTACGACAACATTA	0.493													18	56					0	0	1	0	0	T	181725167	C	T	181725167	2	4	7	1	0	0	0	0	0	0	0	1	2560	547	19	1		1	CACNA1E	1	181725167	Silent	SNP	C	TCGA-CH-5744-01A-11D-1576-08	4962427	181725167	67525454	3	301											
CRB1	23418	broad.mit.edu	37	chr1	197313415	197313415	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgacttttttaaaaggtgtAaactgtgaattggaaattga	14	15	9	3	0	0	3	0	3	0	0	0	4	0	4	0	2	1	1	0	2	6	6			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr1:197313415A>G	ENST00000367400.3	+	3	792	c.657A>G	c.(655-657)gtA>gtG	p.V219V	CRB1_ENST00000538660.1_Silent_p.V219V|CRB1_ENST00000543483.1_5'UTR|CRB1_ENST00000367399.2_Intron|CRB1_ENST00000535699.1_Silent_p.V150V	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	219	EGF-like 5; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.V219V(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TAAAAGGTGTAAACTGTGAAT	0.398													6	397					0	0	1	0	0	G	197313415	A	G	197313415	2	3	7	1	0	0	0	0	0	0	0	1	3871	349	13	3		3	CRB1	1	197313415	Silent	SNP	A	TCGA-CH-5744-01A-11D-1576-08	15588248	197313415	51937206	4	302											
BCL11A	53335	broad.mit.edu	37	chr2	60773250	60773250	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggaaggtggcttatccaCagctttttctaagcagaggc	10	10	13	8	0	1	1	0	0	1	1	2	2	2	2	1	5	2	3	1	5	3	4			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr2:60773250C>T	ENST00000335712.6	-	2	468	c.241G>A	c.(241-243)Gtg>Atg	p.V81M	BCL11A_ENST00000359629.5_Missense_Mutation_p.V81M|BCL11A_ENST00000537768.1_De_novo_Start_InFrame|BCL11A_ENST00000538214.1_Missense_Mutation_p.V81M|BCL11A_ENST00000356842.4_Missense_Mutation_p.V81M|BCL11A_ENST00000358510.4_Missense_Mutation_p.V81M	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	81	Required for nuclear body formation and for SUMO1 recruitment (By similarity).				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	p.V81M(3)		NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GGCTTATCCACAGCTTTTTCT	0.483			T	IGH@	B-CLL								5	133					0	0	1	0	0	T	60773250	C	T	60773250	3	4	7	1	0	0	0	0	1	0	0	0	1361	478	17	2	2384	2	BCL11A	2	60773250	Missense_Mutation	SNP	C	TCGA-CH-5744-01A-11D-1576-08		60773250	182426123	5	303											
LRP1B	53353	broad.mit.edu	37	chr2	141473639	141473639	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagtcttgcaacttcaattaAgttgaaaccatgatctgtcc	12	13	7	9	0	3	2	1	2	2	0	4	3	4	2	2	0	3	2	2	0	4	4			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr2:141473639A>C	ENST00000389484.3	-	37	6897	c.5926T>G	c.(5926-5928)Tta>Gta	p.L1976V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1976					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.L1976V(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACTTCAATTAAGTTGAAACCA	0.343										TSP Lung(27;0.18)			92	216					0	0	1	0	0	C	141473639	A	C	141473639	3	2	7	1	0	0	0	0	1	0	0	0	9000	69	3	5	8093	5	LRP1B	2	141473639	Missense_Mutation	SNP	A	TCGA-CH-5744-01A-11D-1576-08	80700389	141473639	101725734	6	304											
CUL3	8452	broad.mit.edu	37	chr2	225379456	225379456	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatcccaaattgtagacgtTctccacattattttgttgta	11	17	5	8	1	1	1	0	0	1	1	3	1	2	1	2	0	0	4	2	0	5	9			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr2:225379456T>C	ENST00000264414.4	-	4	750	c.412A>G	c.(412-414)Aac>Gac	p.N138D	CUL3_ENST00000432260.2_5'UTR|CUL3_ENST00000409096.1_Missense_Mutation_p.N114D|CUL3_ENST00000409777.1_Missense_Mutation_p.N114D|CUL3_ENST00000344951.4_Missense_Mutation_p.N72D	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	138					cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding	p.N138D(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TTGTAGACGTTCTCCACATTA	0.338													27	79					0	0	1	0	0	C	225379456	T	C	225379456	3	2	7	1	0	0	0	0	1	0	0	0	4079	1783	62	3	1946	3	CUL3	2	225379456	Missense_Mutation	SNP	T	TCGA-CH-5744-01A-11D-1576-08	83905817	225379456	17819917	7	305											
RNPEPL1	57140	broad.mit.edu	37	chr2	241516387	241516387	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcctgacctccacagggtgCggcgcttcctggagagccag	7	7	13	14	2	0	2	0	1	0	1	3	3	3	2	5	3	2	1	5	3	0	1			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr2:241516387C>T	ENST00000270357.3	+	10	1764	c.1171C>T	c.(1171-1173)Cgg>Tgg	p.R391W	RNPEPL1_ENST00000464550.1_3'UTR	NM_018226.4	NP_060696.4	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like 1	391					leukotriene biosynthetic process|proteolysis		aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.R391W(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		CCACAGGGTGCGGCGCTTCCT	0.647													4	111					0	0	1	0	0	T	241516387	C	T	241516387	3	4	7	1	0	0	0	0	1	0	0	0	13562	759	27	1	1201	1	RNPEPL1	2	241516387	Missense_Mutation	SNP	C	TCGA-CH-5744-01A-11D-1576-08	16136931	241516387	1682986	8	306											
DOCK3	1795	broad.mit.edu	37	chr3	51101984	51101984	+	Missense_Mutation	SNP	G	G	A																															tgactcaggatcaggtgcggGaggttaagcggcacatcacc																										TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr3:51101984G>A	ENST00000266037.9	+	6	444	c.421G>A	c.(421-423)Gag>Aag	p.E141K		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	141						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	p.E130K(1)|p.E141K(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TCAGGTGCGGGAGGTTAAGCG	0.453													28	120					0	0	1	0	0	A	51101984	G	A	51101984	3	1	7	1	0	0	0	0	1	0	0	0	4715	1175	41	2	443	2	DOCK3	3	51101984	Missense_Mutation	SNP	G	TCGA-CH-5744-01A-11D-1576-08		51101984	146920446	9	307	1	2	1	1		3	2	30	N	G	3.840768e-05
DOCK3	1795	broad.mit.edu	37	chr3	51101986	51101986	+	Silent	SNP	G	G	A																															actcaggatcaggtgcgggaGgttaagcggcacatcaccgt																										TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr3:51101986G>A	ENST00000266037.9	+	6	446	c.423G>A	c.(421-423)gaG>gaA	p.E141E		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	141						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	p.E141E(2)|p.E130E(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AGGTGCGGGAGGTTAAGCGGC	0.453													27	122					0	0	1	0	0	A	51101986	G	A	51101986	2	1	7	1	0	0	0	0	0	0	0	1	4715	991	35	2		2	DOCK3	3	51101986	Silent	SNP	G	TCGA-CH-5744-01A-11D-1576-08	2	51101986	146920444	10	308	1	2	1	1		3	2	30	N	G	3.840768e-05
DOCK3	1795	broad.mit.edu	37	chr3	51102013	51102013	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggcacatcaccgtgcgcctGgactggggtaatgagtaagt	9	8	14	10	3	1	1	1	1	0	0	1	2	1	2	2	4	1	3	2	4	2	2			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr3:51102013G>A	ENST00000266037.9	+	6	473	c.450G>A	c.(448-450)ctG>ctA	p.L150L		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	150						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	p.L150L(2)|p.L139L(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CCGTGCGCCTGGACTGGGGTA	0.463													26	123					0	0	1	0	0	A	51102013	G	A	51102013	2	1	7	1	0	0	0	0	0	0	0	1	4715	1335	47	2		2	DOCK3	3	51102013	Silent	SNP	G	TCGA-CH-5744-01A-11D-1576-08	27	51102013	146920417	11	309			1	1		3	2	30	N	G	3.840768e-05
RYBP	23429	broad.mit.edu	37	chr3	72428496	72428496	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcttttcaactttctcctTcttctcctttttagggggtg	3	20	7	11	0	4	0	1	0	3	0	6	0	4	0	2	2	2	1	2	2	2	8			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr3:72428496T>C	ENST00000477973.1	-	2	505	c.506A>G	c.(505-507)gAa>gGa	p.E169G		NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN	RING1 and YY1 binding protein	0	Interaction with E4TF1B.				apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	p.K169R(2)		prostate(1)|upper_aerodigestive_tract(1)	2		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)		ACTTTCTCCTTCTTCTCCTTT	0.408													65	193					0	0	1	0	0	C	72428496	T	C	72428496	3	2	7	1	0	0	0	0	1	0	0	0	13818	1792	62	3	457	3	RYBP	3	72428496	Missense_Mutation	SNP	T	TCGA-CH-5744-01A-11D-1576-08	21326483	72428496	125593934	12	310											
PLCXD2	257068	broad.mit.edu	37	chr3	111426940	111426940	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagctggaagctgggatcCgctactttgacctgcgtgtg	8	10	13	10	2	0	1	0	1	0	0	1	3	1	3	2	2	5	3	2	2	3	2			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr3:111426940C>T	ENST00000393934.3	+	2	901	c.331C>T	c.(331-333)Cgc>Tgc	p.R111C	PLCXD2_ENST00000477665.1_Missense_Mutation_p.R111C	NM_153268.3	NP_695000.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2	111	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	p.R111C(1)		endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						AGCTGGGATCCGCTACTTTGA	0.512													31	147					0	0	1	0	0	T	111426940	C	T	111426940	3	4	7	1	0	0	0	0	1	0	0	0	12090	652	23	1	337	1	PLCXD2	3	111426940	Missense_Mutation	SNP	C	TCGA-CH-5744-01A-11D-1576-08	38998444	111426940	86595490	13	311											
COL6A5	256076	broad.mit.edu	37	chr3	130189738	130189738	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccatcaacaaatatcccaccGaagatatgaaagccacatgt	17	7	5	12	1	1	2	1	1	0	1	2	3	2	2	4	0	2	0	4	0	6	2			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr3:130189738G>A	ENST00000265379.6	+	39	7995	c.7501G>A	c.(7501-7503)Gaa>Aaa	p.E2501K	COL6A5_ENST00000432398.2_Missense_Mutation_p.E2501K			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2501	Nonhelical region.				axon guidance|cell adhesion	collagen		p.E2501K(2)|p.E540K(2)		endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						ATATCCCACCGAAGATATGAA	0.428													10	39					0	0	1	0	0	A	130189738	G	A	130189738	3	1	7	1	0	0	0	0	1	0	0	0	3725	1059	37	1	7651	1	COL6A5	3	130189738	Missense_Mutation	SNP	G	TCGA-CH-5744-01A-11D-1576-08	18762798	130189738	67832692	14	312											
CDKL3	51265	broad.mit.edu	37	chr5	133634385	133634385	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcaaattcttcccctcgCaatggccatctccaccctaa	9	12	3	17	1	4	0	1	0	3	0	7	0	5	0	5	1	0	1	5	1	3	4			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr5:133634385C>T	ENST00000265334.4	-	13	1854	c.1736G>A	c.(1735-1737)tGc>tAc	p.C579Y	CDKL3_ENST00000435240.2_Intron|CDKL3_ENST00000518409.1_Intron|CDKL3_ENST00000536186.1_Intron|CDKL3_ENST00000523054.1_3'UTR	NM_001113575.1	NP_001107047.1	Q8IVW4	CDKL3_HUMAN	cyclin-dependent kinase-like 3	579						cytoplasm	ATP binding|cyclin-dependent protein kinase activity	p.C579Y(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTTCCCCTCGCAATGGCCATC	0.348													37	125					0	0	1	0	0	T	133634385	C	T	133634385	3	4	7	1	0	0	0	0	1	0	0	0	3177	710	25	2	46	2	CDKL3	5	133634385	Missense_Mutation	SNP	C	TCGA-CH-5744-01A-11D-1576-08		133634385	47280875	15	313											
FAM53C	51307	broad.mit.edu	37	chr5	137681219	137681219	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccttgtgatctggatgcccGcaaaactggggtcaagcggc	8	8	14	11	2	2	1	1	1	1	0	2	2	2	2	2	4	3	1	2	4	3	1			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr5:137681219G>A	ENST00000239906.5	+	4	1270	c.842G>A	c.(841-843)cGc>cAc	p.R281H	FAM53C_ENST00000434981.2_Missense_Mutation_p.R281H|FAM53C_ENST00000513056.1_Missense_Mutation_p.A91T	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	281								p.R281H(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CTGGATGCCCGCAAAACTGGG	0.642													4	171					0	0	1	0	0	A	137681219	G	A	137681219	3	1	7	1	0	0	0	0	1	0	0	0	5617	1087	38	1	852	1	FAM53C	5	137681219	Missense_Mutation	SNP	G	TCGA-CH-5744-01A-11D-1576-08	4046834	137681219	43234041	16	314											
PSD2	84249	broad.mit.edu	37	chr5	139189047	139189047	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaggaggacaagctcttaTctgcagtgcctgaggaaggc	10	8	15	8	0	2	1	0	1	2	0	2	5	2	5	1	5	3	2	1	5	3	1			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr5:139189047T>C	ENST00000274710.3	+	2	227	c.22T>C	c.(22-24)Tct>Cct	p.S8P		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	8					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	p.S8P(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAGCTCTTATCTGCAGTGCC	0.627													3	21					0	0	1	0	0	C	139189047	T	C	139189047	3	2	7	1	0	0	0	0	1	0	0	0	12696	1435	50	3	24	3	PSD2	5	139189047	Missense_Mutation	SNP	T	TCGA-CH-5744-01A-11D-1576-08	1507828	139189047	41726213	17	315											
GRIA1	0	broad.mit.edu	37	chr5	153078545	153078545	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacgtgggctactcctaccGtctggagattgtcagtgatg	7	11	13	10	2	2	2	1	1	1	1	3	3	3	2	2	2	2	2	2	2	2	3			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr5:153078545G>A	ENST00000285900.5	+	10	1707	c.1364G>A	c.(1363-1365)cGt>cAt	p.R455H	GRIA1_ENST00000448073.4_Missense_Mutation_p.R465H|GRIA1_ENST00000518783.1_Missense_Mutation_p.R465H|GRIA1_ENST00000518142.1_Missense_Mutation_p.R375H|GRIA1_ENST00000340592.5_Missense_Mutation_p.R455H|GRIA1_ENST00000521843.2_Missense_Mutation_p.R386H	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	455					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	p.R455H(1)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TACTCCTACCGTCTGGAGATT	0.542													33	75					0	0	1	0	0	A	153078545	G	A	153078545	3	1	7	1	0	0	0	0	1	0	0	0	6808	1145	40	1	1402	1	GRIA1	5	153078545	Missense_Mutation	SNP	G	TCGA-CH-5744-01A-11D-1576-08	13889498	153078545	27836715	18	316											
ATP10B	23120	broad.mit.edu	37	chr5	159992774	159992774	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcgagccacttcggggaCaggggcaggcctctgtctgc	5	8	16	12	2	2	0	0	0	2	0	4	2	2	1	2	6	2	1	2	6	0	1			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr5:159992774C>G	ENST00000327245.5	-	26	4918	c.4072G>C	c.(4072-4074)Gtc>Ctc	p.V1358L		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1358					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.V1358L(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACTTCGGGGACAGGGGCAGGC	0.517													58	234					0	0	1	0	0	G	159992774	C	G	159992774	3	3	7	1	0	0	0	0	1	0	0	0	1116	478	17	4	317	4	ATP10B	5	159992774	Missense_Mutation	SNP	C	TCGA-CH-5744-01A-11D-1576-08	6914229	159992774	20922486	19	317											
ZAN	7455	broad.mit.edu	37	chr7	100345786	100345786	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtaggcgtttttggaaaGaccccagagccagctgtggc	8	9	15	9	1	0	2	0	0	0	2	0	3	0	3	3	4	2	3	3	4	2	3			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr7:100345786G>T	ENST00000542585.1	+	0	1198				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		p.K350N(3)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TTTTTGGAAAGACCCCAGAGC	0.597													12	59					0.000219431	0.000234308	1	1	0	T	100345786	G	T	100345786	1	4	7	0	1	0	0	0	0	0	0	0	17573	933	33	4		4	ZAN	7	100345786	RNA	SNP	G	TCGA-CH-5744-01A-11D-1576-08		100345786	58792877	20	318											
EBF2	64641	broad.mit.edu	37	chr8	25745360	25745360	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctgttgcctctgcttacctCgctccatacaagcatagtcc	7	12	6	16	1	1	0	0	0	1	0	4	0	3	0	5	0	5	4	5	0	4	4			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr8:25745360C>T	ENST00000520164.1	-	9	1417	c.880G>A	c.(880-882)Gag>Aag	p.E294K	EBF2_ENST00000535548.1_Missense_Mutation_p.E25K|EBF2_ENST00000408929.3_Missense_Mutation_p.E146K	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	294	IPT/TIG.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	p.E294K(2)		endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		CTGCTTACCTCGCTCCATACA	0.463													37	58					0	0	1	0	0	T	25745360	C	T	25745360	3	4	7	1	0	0	0	0	1	0	0	0	4907	893	31	1	879	1	EBF2	8	25745360	Missense_Mutation	SNP	C	TCGA-CH-5744-01A-11D-1576-08		25745360	120618662	21	319											
KDM4C	23081	broad.mit.edu	37	chr9	7169914	7169914	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgctggcagatgccacttGgggacctgccaagtgaattc	9	9	13	10	0	0	2	0	1	0	1	1	3	0	3	3	3	3	2	3	3	2	2			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr9:7169914G>C	ENST00000381306.3	+	21	3583	c.3018G>C	c.(3016-3018)ttG>ttC	p.L1006F	KDM4C_ENST00000381309.3_Intron|KDM4C_ENST00000442236.2_Intron|KDM4C_ENST00000428870.2_Intron	NM_001146694.1	NP_001140166.1	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	0					positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	p.L1006F(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						GATGCCACTTGGGGACCTGCC	0.448													12	53					0	0	1	0	0	C	7169914	G	C	7169914	3	2	7	1	0	0	0	0	1	0	0	0	8174	1339	47	4	3188	4	KDM4C	9	7169914	Missense_Mutation	SNP	G	TCGA-CH-5744-01A-11D-1576-08		7169914	134043517	22	320											
TRPM6	140803	broad.mit.edu	37	chr9	77427337	77427337	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agcatctgacattgcttgttCcagggcatcaggcttcagaa	10	11	10	10	0	3	2	2	1	1	1	4	2	4	2	1	2	2	5	1	2	1	4			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr9:77427337C>T	ENST00000451710.3	-	12	1558	c.1321G>A	c.(1321-1323)Gaa>Aaa	p.E441K	TRPM6_ENST00000376872.3_Missense_Mutation_p.E441K|TRPM6_ENST00000449912.2_Missense_Mutation_p.E436K|TRPM6_ENST00000376871.3_Missense_Mutation_p.E441K|TRPM6_ENST00000376864.4_Missense_Mutation_p.E441K|TRPM6_ENST00000361255.3_Missense_Mutation_p.E436K|TRPM6_ENST00000360774.1_Missense_Mutation_p.E441K			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	441					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	p.E441K(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						ATTGCTTGTTCCAGGGCATCA	0.363													51	91					0	0	1	0	0	T	77427337	C	T	77427337	3	4	7	1	0	0	0	0	1	0	0	0	16651	864	30	2	4859	2	TRPM6	9	77427337	Missense_Mutation	SNP	C	TCGA-CH-5744-01A-11D-1576-08	70257423	77427337	63786094	23	321											
IKBKAP	8518	broad.mit.edu	37	chr9	111662626	111662626	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaacttccccatgggacaCatgattgctgctcaggccgg	9	8	11	13	1	1	2	1	1	0	1	2	3	2	3	3	3	3	2	3	3	1	2			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr9:111662626C>T	ENST00000374647.5	-	19	2351	c.2044G>A	c.(2044-2046)Gtg>Atg	p.V682M	IKBKAP_ENST00000537196.1_Missense_Mutation_p.V333M	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	682					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity	p.V682M(1)		NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CCATGGGACACATGATTGCTG	0.458													22	108					0	0	1	0	0	T	111662626	C	T	111662626	3	4	7	1	0	0	0	0	1	0	0	0	7654	478	17	2	2030	2	IKBKAP	9	111662626	Missense_Mutation	SNP	C	TCGA-CH-5744-01A-11D-1576-08	34235289	111662626	29550805	24	322											
WDR38	401551	broad.mit.edu	37	chr9	127618187	127618187	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcagccctgactcgagaCagctggcatcaggtggctgg	7	8	14	12	1	2	2	2	1	0	1	3	3	2	2	1	4	2	4	1	4	0	1			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr9:127618187C>A	ENST00000373574.1	+	4	411	c.355C>A	c.(355-357)Cag>Aag	p.Q119K		NM_001045476.1|NM_001276374.1	NP_001038941.1|NP_001263303.1	Q5JTN6	WDR38_HUMAN	WD repeat domain 38	119								p.Q119K(1)		breast(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						TGACTCGAGACAGCTGGCATC	0.622											OREG0019485	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	139					0.00024832	0.000256462	1	1	0	A	127618187	C	A	127618187	3	1	7	1	0	0	0	0	1	0	0	0	17352	479	17	4	369	4	WDR38	9	127618187	Missense_Mutation	SNP	C	TCGA-CH-5744-01A-11D-1576-08	15955561	127618187	13595244	25	323											
TNKS1BP1	85456	broad.mit.edu	37	chr11	57077492	57077492	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctcgttggcatcttggctgGcataagcacccagagaatct	9	10	11	11	1	2	1	0	0	2	1	3	2	2	1	1	3	1	6	1	3	2	3			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr11:57077492G>A	ENST00000532437.1	-	5	3004	c.2693C>T	c.(2692-2694)gCc>gTc	p.A898V	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.A898V|TNKS1BP1_ENST00000530920.1_5'UTR			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	898	Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	p.A898V(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				ATCTTGGCTGGCATAAGCACC	0.532													6	414					0	0	1	0	0	A	57077492	G	A	57077492	3	1	7	1	0	0	0	0	1	0	0	0	16380	1203	42	2	2520	2	TNKS1BP1	11	57077492	Missense_Mutation	SNP	G	TCGA-CH-5744-01A-11D-1576-08		57077492	77929024	26	324											
NCAM1	4684	broad.mit.edu	37	chr11	113105824	113105824	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacgccgtaaggctggcggCgctcaatggcaaagggctgg	8	6	17	10	4	1	0	1	0	0	0	1	0	1	0	1	6	1	6	1	6	4	2			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr11:113105824C>T	ENST00000316851.7	+	13	1733	c.1733C>T	c.(1732-1734)gCg>gTg	p.A578V	NCAM1_ENST00000533760.1_Missense_Mutation_p.A460V|NCAM1_ENST00000401611.2_Missense_Mutation_p.A587V|NCAM1_ENST00000397957.4_3'UTR	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	588	Fibronectin type-III 1.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		p.A587V(2)|p.A578V(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AGGCTGGCGGCGCTCAATGGC	0.587													9	15					0	0	1	0	0	T	113105824	C	T	113105824	3	4	7	1	0	0	0	0	1	0	0	0	10249	768	27	1	1818	1	NCAM1	11	113105824	Missense_Mutation	SNP	C	TCGA-CH-5744-01A-11D-1576-08	56028332	113105824	21900692	27	325											
OR10G9	219870	broad.mit.edu	37	chr11	123893785	123893785	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccatgccccagggctggaCgccccactctttggaatctt	6	9	9	17	1	2	0	0	0	2	0	2	2	2	2	6	3	1	1	6	3	1	2			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr11:123893785C>T	ENST00000375024.1	+	1	66	c.66C>T	c.(64-66)gaC>gaT	p.D22D		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D22D(2)|p.D22E(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CAGGGCTGGACGCCCCACTCT	0.587													18	416					0	0	1	0	0	T	123893785	C	T	123893785	2	4	7	1	0	0	0	0	0	0	0	1	10952	535	19	1		1	OR10G9	11	123893785	Silent	SNP	C	TCGA-CH-5744-01A-11D-1576-08	10787961	123893785	11112731	28	326											
OR10G7	390265	broad.mit.edu	37	chr11	123909643	123909643	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagattccaaagaggggggcGtccagccctggggcatgggg	9	5	18	9	1	0	2	0	0	0	2	2	2	2	2	3	7	1	1	3	7	2	1			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr11:123909643G>A	ENST00000330487.5	-	1	74	c.66C>T	c.(64-66)gaC>gaT	p.D22D		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D22D(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AGAGGGGGGCGTCCAGCCCTG	0.562													12	129					0	0	1	0	0	A	123909643	G	A	123909643	2	1	7	1	0	0	0	0	0	0	0	1	10950	1136	40	1		1	OR10G7	11	123909643	Silent	SNP	G	TCGA-CH-5744-01A-11D-1576-08	15858	123909643	11096873	29	327											
BARX2	8538	broad.mit.edu	37	chr11	129312807	129312807	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaatcgcaggatgaaatggaAgaaaatggtaagaaaggagt	19	6	14	2	1	0	3	0	1	0	2	1	7	0	6	0	4	0	2	0	4	7	1			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr11:129312807A>G	ENST00000281437.4	+	3	662	c.566A>G	c.(565-567)aAg>aGg	p.K189R	BARX2_ENST00000531946.1_Missense_Mutation_p.K67R|BARX2_ENST00000526127.1_Missense_Mutation_p.K44R	NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN	BARX homeobox 2	189								p.K189R(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		ATGAAATGGAAGAAAATGGTA	0.498													7	125					0	0	1	0	0	G	129312807	A	G	129312807	3	3	7	1	0	0	0	0	1	0	0	0	1314	72	3	3	576	3	BARX2	11	129312807	Missense_Mutation	SNP	A	TCGA-CH-5744-01A-11D-1576-08	5403164	129312807	5693709	30	328											
MBD6	0	broad.mit.edu	37	chr12	57920425	57920425	+	Frame_Shift_Del	DEL	G	G	-																															caaagcccatccgaaggactGgggatgggggcaggcccggc																										TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr12:57920425delG	ENST00000355673.3	+	7	1853	c.1497delG	c.(1495-1497)ctfs	p.L499fs	MBD6_ENST00000431731.2_Frame_Shift_Del_p.L499fs	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	499	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CCGAAGGACTGGGGATGGGGG	0.647													51	217	---	---	---	---						-	57920425	G	-	57920425	7	5	7	1	0	1	0	1	0	0	0	0	9398	1335	47	0	1515	0	MBD6	12	57920425	Frame_Shift_Del	DEL	G	TCGA-CH-5744-01A-11D-1576-08		57920425	75931470	31	329											
NAP1L1	4673	broad.mit.edu	37	chr12	76446996	76446996	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	attatttaccttcaggagggGcaaaaaagttaaagaaagag	18	9	10	4	0	1	2	1	0	0	2	1	3	1	3	1	3	1	2	1	3	8	5			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr12:76446996G>A	ENST00000261182.8	-	10	1391	c.905C>T	c.(904-906)gCc>gTc	p.A302V	NAP1L1_ENST00000547773.1_Missense_Mutation_p.A239V|NAP1L1_ENST00000431879.3_Missense_Mutation_p.A234V|NAP1L1_ENST00000547993.1_Missense_Mutation_p.A119V|NAP1L1_ENST00000548044.1_Missense_Mutation_p.A261V|NAP1L1_ENST00000393263.3_Missense_Mutation_p.A302V|NAP1L1_ENST00000544816.1_Missense_Mutation_p.A119V|NAP1L1_ENST00000535020.2_Missense_Mutation_p.A302V|NAP1L1_ENST00000549596.1_Missense_Mutation_p.A302V|NAP1L1_ENST00000542344.1_Missense_Mutation_p.A260V|NAP1L1_ENST00000552342.1_Missense_Mutation_p.A313V	NM_004537.4|NM_139207.2	NP_004528.1|NP_631946.1	P55209	NP1L1_HUMAN	nucleosome assembly protein 1-like 1	302					DNA replication|nucleosome assembly|positive regulation of cell proliferation	chromatin assembly complex|melanosome	protein binding	p.A302V(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9		Colorectal(145;0.09)				TTCAGGAGGGGCAAAAAAGTT	0.328													5	197					0	0	1	0	0	A	76446996	G	A	76446996	3	1	7	1	0	0	0	0	1	0	0	0	10204	1203	42	2	294	2	NAP1L1	12	76446996	Missense_Mutation	SNP	G	TCGA-CH-5744-01A-11D-1576-08	18526571	76446996	57404899	32	330											
SPIC	121599	broad.mit.edu	37	chr12	101876611	101876611	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttgaaggaaatattcatcaAtctctgcagaacataactga	16	12	6	7	0	3	3	2	2	1	1	4	4	3	4	0	1	3	1	0	1	6	4			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr12:101876611A>G	ENST00000551346.1	+	5	411	c.252A>G	c.(250-252)caA>caG	p.Q84Q	SPIC_ENST00000299272.5_Silent_p.Q84Q			Q8N5J4	SPIC_HUMAN	Spi-C transcription factor (Spi-1/PU.1 related)	84						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.Q84Q(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						ATATTCATCAATCTCTGCAGA	0.403													131	332					0	0	1	0	0	G	101876611	A	G	101876611	2	3	7	1	0	0	0	0	0	0	0	1	15107	98	4	3		3	SPIC	12	101876611	Silent	SNP	A	TCGA-CH-5744-01A-11D-1576-08	25429615	101876611	31975284	33	331											
FERMT2	10979	broad.mit.edu	37	chr14	53385917	53385917	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcaccttcacatacttcatGttgggaagctgcaggcggag	9	11	11	10	1	3	0	3	0	0	0	3	2	3	2	1	3	3	3	1	3	2	5			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr14:53385917G>T	ENST00000395631.2	-	3	531	c.315C>A	c.(313-315)aaC>aaA	p.N105K	FERMT2_ENST00000343279.4_Missense_Mutation_p.N105K|FERMT2_ENST00000553373.1_Missense_Mutation_p.N105K|FERMT2_ENST00000399304.3_Missense_Mutation_p.N105K|FERMT2_ENST00000341590.3_Missense_Mutation_p.N105K			Q96AC1	FERM2_HUMAN	fermitin family member 2	105					actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding	p.N105K(1)	ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					CATACTTCATGTTGGGAAGCT	0.398													6	288					5.9392e-07	6.4512e-07	1	1	0	T	53385917	G	T	53385917	3	4	7	1	0	0	0	0	1	0	0	0	5851	1368	48	4	1816	4	FERMT2	14	53385917	Missense_Mutation	SNP	G	TCGA-CH-5744-01A-11D-1576-08		53385917	53963623	34	332											
EML1	2009	broad.mit.edu	37	chr14	100405575	100405575	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggaaccgacatcaatgccGtctgtcgggcccatgagaag	11	6	12	12	4	2	1	1	1	1	1	3	4	2	2	3	2	2	0	3	2	3	0			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr14:100405575G>A	ENST00000262233.6	+	21	2372	c.2233G>A	c.(2233-2235)Gtc>Atc	p.V745I	EML1_ENST00000327921.9_Missense_Mutation_p.V733I|EML1_ENST00000334192.4_Missense_Mutation_p.V764I	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	745						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding	p.V764I(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				CATCAATGCCGTCTGTCGGGC	0.562													36	99					0	0	1	0	0	A	100405575	G	A	100405575	3	1	7	1	0	0	0	0	1	0	0	0	5124	1145	40	1	2376	1	EML1	14	100405575	Missense_Mutation	SNP	G	TCGA-CH-5744-01A-11D-1576-08	47019658	100405575	6943965	35	333											
KIAA0100	9703	broad.mit.edu	37	chr17	26961608	26961608	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctaatccctcagggggaaaAgggctgcctggatcaagctc	10	8	12	11	0	3	0	2	0	1	0	5	2	4	2	2	4	2	2	2	4	4	1			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr17:26961608A>G	ENST00000528896.2	-	16	3071	c.2997T>C	c.(2995-2997)ccT>ccC	p.P999P	KIAA0100_ENST00000544884.1_Silent_p.P856P|RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000389003.3_Silent_p.P856P	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	999						extracellular region		p.P999P(1)		breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CAGGGGGAAAAGGGCTGCCTG	0.493													4	223					0	0	1	0	0	G	26961608	A	G	26961608	2	3	7	1	0	0	0	0	0	0	0	1	8196	59	3	3		3	KIAA0100	17	26961608	Silent	SNP	A	TCGA-CH-5744-01A-11D-1576-08		26961608	54233602	36	334											
ZNF521	25925	broad.mit.edu	37	chr18	22804338	22804338	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgggagggactgattctggGcattggtgatacttggggcg	6	11	18	6	1	1	2	0	2	1	0	1	4	1	4	0	6	1	1	0	6	1	4			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr18:22804338G>A	ENST00000361524.3	-	4	3692	c.3544C>T	c.(3544-3546)Ccc>Tcc	p.P1182S	ZNF521_ENST00000538137.2_Missense_Mutation_p.P1182S|ZNF521_ENST00000584787.1_Missense_Mutation_p.P962S	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1182					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CTGATTCTGGGCATTGGTGAT	0.478			T	PAX5	ALL								4	191					0	0	1	0	0	A	22804338	G	A	22804338	3	1	7	1	0	0	0	0	1	0	0	0	18022	1203	42	2	411	2	ZNF521	18	22804338	Missense_Mutation	SNP	G	TCGA-CH-5744-01A-11D-1576-08		22804338	55272910	37	335											
LDLR	3949	broad.mit.edu	37	chr19	11227612	11227612	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgatgtcaacgggggcaacCggaagaccatcttggaggat	11	7	14	9	3	2	1	1	0	1	1	3	5	2	4	2	5	2	1	2	5	3	1			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr19:11227612C>T	ENST00000558518.1	+	12	1970	c.1783C>T	c.(1783-1785)Cgg>Tgg	p.R595W	LDLR_ENST00000558013.1_Missense_Mutation_p.R595W|LDLR_ENST00000455727.2_Missense_Mutation_p.R427W|LDLR_ENST00000557933.1_Missense_Mutation_p.R595W|LDLR_ENST00000535915.1_Missense_Mutation_p.R554W|LDLR_ENST00000545707.1_Missense_Mutation_p.R468W	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	595					cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.R595W(1)|p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	CGGGGGCAACCGGAAGACCAT	0.542													73	342					0	0	1	0	0	T	11227612	C	T	11227612	3	4	7	1	0	0	0	0	1	0	0	0	8743	643	23	1	1829	1	LDLR	19	11227612	Missense_Mutation	SNP	C	TCGA-CH-5744-01A-11D-1576-08		11227612	47901371	38	336											
JAK3	3718	broad.mit.edu	37	chr19	17950419	17950419	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccaaccagaaggaaggtTcctgtggggctgcgccggat	9	6	16	10	2	0	1	0	0	0	1	1	3	1	3	4	6	2	2	4	6	3	1			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr19:17950419T>A	ENST00000458235.1	-	10	1407	c.1308A>T	c.(1306-1308)ggA>ggT	p.G436G	JAK3_ENST00000534444.1_Silent_p.G436G|JAK3_ENST00000526008.1_5'UTR|JAK3_ENST00000527670.1_Silent_p.G436G	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	436	SH2; atypical.				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.G436G(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						GAAGGAAGGTTCCTGTGGGGC	0.612		2	Mis		"acute megakaryocytic leukemia, ETP ALL"								5	30					0	0	1	0	0	A	17950419	T	A	17950419	2	1	7	1	0	0	0	0	0	0	0	1	7983	1770	62	5		5	JAK3	19	17950419	Silent	SNP	T	TCGA-CH-5744-01A-11D-1576-08	6722807	17950419	41178564	39	337											
TSKS	60385	broad.mit.edu	37	chr19	50248602	50248602	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcagccgcagggcttcctgCaccgccccctcctcctgatg	5	7	10	19	2	0	1	0	1	0	0	3	1	3	1	7	1	3	4	7	1	0	1			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr19:50248602C>T	ENST00000246801.3	-	7	1126	c.1044G>A	c.(1042-1044)gtG>gtA	p.V348V	TSKS_ENST00000358830.3_Silent_p.V148V	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	348							protein binding	p.V348V(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		GGGCTTCCTGCACCGCCCCCT	0.706													3	8					0	0	1	0	0	T	50248602	C	T	50248602	2	4	7	1	0	0	0	0	0	0	0	1	16687	697	25	2		2	TSKS	19	50248602	Silent	SNP	C	TCGA-CH-5744-01A-11D-1576-08	32298183	50248602	8880381	40	338											
ZSCAN1	284312	broad.mit.edu	37	chr19	58565060	58565060	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgtgggccccgaggtgggCggcccttccagtgtgccgac	3	6	17	15	5	0	0	0	0	0	0	1	2	1	0	5	4	1	0	5	4	0	1			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chr19:58565060C>A	ENST00000282326.1	+	6	1115	c.868C>A	c.(868-870)Cgg>Agg	p.R290R		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	290					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R290R(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CCGAGGTGGGCGGCCCTTCCA	0.652													4	100					0.00024832	0.000256462	1	1	0	A	58565060	C	A	58565060	2	1	7	1	0	0	0	0	0	0	0	1	18268	759	27	4		4	ZSCAN1	19	58565060	Silent	SNP	C	TCGA-CH-5744-01A-11D-1576-08	8316458	58565060	563923	41	339											
SNX12	29934	broad.mit.edu	37	chrX	70280884	70280884	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctactggcgcaccttcccCgggacgtagttcctgtcaat	6	11	9	15	3	1	0	1	0	0	0	4	1	4	1	5	2	1	3	5	2	3	4			TCGA-CH-5744-01A-11D-1576-08	TCGA-CH-5744-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79e46606-ecb4-4a53-acaf-e9e46855fe4d	84029535-3038-490b-b904-910d79fce5c8	g.chrX:70280884C>A	ENST00000374274.3	-	4	587	c.471G>T	c.(469-471)ccG>ccT	p.P157P	SNX12_ENST00000276105.3_Silent_p.P153P|SNX12_ENST00000465030.1_5'UTR	NM_001256185.1|NM_001256188.1|NM_013346.3	NP_001243114.1|NP_001243117.1|NP_037478.2	Q9UMY4	SNX12_HUMAN	sorting nexin 12	157					cell communication|protein transport	membrane	phosphatidylinositol binding|protein binding	p.P157P(1)		endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	Renal(35;0.156)					GCACCTTCCCCGGGACGTAGT	0.512													3	22					1	1	1	1	0	A	70280884	C	A	70280884	2	1	7	1	0	0	0	0	0	0	0	1	14937	639	23	4		4	SNX12	23	70280884	Silent	SNP	C	TCGA-CH-5744-01A-11D-1576-08		70280884	84989676	42	340											
SPTA1	6708	broad.mit.edu	37	chr1	158617396	158617396	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccttacgatcctttgtacGcccctgcaggtcttcccagg	5	12	8	16	2	1	0	0	0	1	0	4	1	4	0	5	2	3	2	5	2	2	4	rs143642542	by1000genomes	TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr1:158617396G>A	ENST00000368148.3	-	27	4009	c.3829C>T	c.(3829-3831)Cgt>Tgt	p.R1277C	SPTA1_ENST00000368147.3_Missense_Mutation_p.R1277C	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1277					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.R1277C(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCCTTTGTACGCCCCTGCAGG	0.562													14	208					0	0	1	0	0	A	158617396	G	A	158617396	3	1	8	1	0	0	0	0	1	0	0	0	15172	1087	38	1	3534	1	SPTA1	1	158617396	Missense_Mutation	SNP	G	TCGA-CH-5745-01A-11D-1576-08		158617396	90633225	1	341											
HMCN1	83872	broad.mit.edu	37	chr1	186094769	186094769	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagaagtacagaaggacactAcacggtcaatgagaattcac	17	6	9	9	1	2	3	2	1	0	3	2	5	2	4	0	2	2	1	0	2	6	3			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr1:186094769A>G	ENST00000271588.4	+	82	12762	c.12533A>G	c.(12532-12534)tAc>tGc	p.Y4178C	HMCN1_ENST00000367492.2_Missense_Mutation_p.Y4178C	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4178	Ig-like C2-type 41.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.Y4178C(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAAGGACACTACACGGTCAAT	0.388													5	98					0	0	1	0	0	G	186094769	A	G	186094769	3	3	8	1	0	0	0	0	1	0	0	0	7261	391	14	3	12859	3	HMCN1	1	186094769	Missense_Mutation	SNP	A	TCGA-CH-5745-01A-11D-1576-08	27477373	186094769	63155852	2	342											
CFHR5	81494	broad.mit.edu	37	chr1	196977769	196977769	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatcatcaccaccatttcgaGcaatctgtcaggaagggaaa	14	9	8	10	1	4	0	3	0	1	0	5	3	4	2	2	2	1	1	2	2	4	2			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr1:196977769G>A	ENST00000367414.5	+	10	1794	c.1738G>A	c.(1738-1740)Gca>Aca	p.A580T	CFHR5_ENST00000256785.4_Missense_Mutation_p.A556T	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	556					complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						ACCATTTCGAGCAATCTGTCA	0.363													3	176					0	0	1	0	0	A	196977769	G	A	196977769	3	1	8	1	0	0	0	0	1	0	0	0	3310	971	34	2	1704	2	CFHR5	1	196977769	Missense_Mutation	SNP	G	TCGA-CH-5745-01A-11D-1576-08	10883000	196977769	52272852	3	343											
UGP2	7360	broad.mit.edu	37	chr2	64114692	64114692	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggtgatgtcaaacctctatAgtcttaatgcaggatctctg	10	14	9	8	0	4	1	1	1	3	0	5	2	4	2	1	2	2	1	1	2	4	3			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr2:64114692A>T	ENST00000337130.5	+	8	1704	c.1228A>T	c.(1228-1230)Agt>Tgt	p.S410C	UGP2_ENST00000445915.2_Missense_Mutation_p.S419C|UGP2_ENST00000394417.2_Missense_Mutation_p.S399C|UGP2_ENST00000467648.2_Missense_Mutation_p.S399C	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2	410					glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity	p.S410C(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						AAACCTCTATAGTCTTAATGC	0.403													8	246					0	0	1	0	0	T	64114692	A	T	64114692	3	4	8	1	0	0	0	0	1	0	0	0	17003	420	15	5	1258	5	UGP2	2	64114692	Missense_Mutation	SNP	A	TCGA-CH-5745-01A-11D-1576-08		64114692	179084681	4	344											
LOXL3	84695	broad.mit.edu	37	chr2	74763166	74763166	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtaggttgcaccggaccccgGcatcctggctatgtgaacaa	9	8	12	12	2	0	1	0	1	0	0	1	2	1	2	4	4	2	5	4	4	4	3			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr2:74763166G>A	ENST00000264094.3	-	7	1276	c.1205C>T	c.(1204-1206)gCc>gTc	p.A402V	LOXL3_ENST00000409986.1_Missense_Mutation_p.A257V|LOXL3_ENST00000409249.1_Intron|LOXL3_ENST00000409549.1_Missense_Mutation_p.A402V|LOXL3_ENST00000393937.2_Missense_Mutation_p.A257V	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	402	SRCR 3.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity	p.A402V(1)		endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						CCGGACCCCGGCATCCTGGCT	0.552													5	162					0	0	1	0	0	A	74763166	G	A	74763166	3	1	8	1	0	0	0	0	1	0	0	0	8946	1203	42	2	1088	2	LOXL3	2	74763166	Missense_Mutation	SNP	G	TCGA-CH-5745-01A-11D-1576-08	10648474	74763166	168436207	5	345											
NCKAP5	344148	broad.mit.edu	37	chr2	133540002	133540002	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggggcttctgaactcacaGcatcagtcgcggttgcagag	8	8	15	10	2	3	2	2	1	1	1	4	2	3	2	0	4	3	4	0	4	1	2			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr2:133540002G>A	ENST00000409261.1	-	14	4755	c.4382C>T	c.(4381-4383)gCt>gTt	p.A1461V	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.A1461V	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1461							protein binding	p.A1461V(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TGAACTCACAGCATCAGTCGC	0.502													19	68					0	0	1	0	0	A	133540002	G	A	133540002	3	1	8	1	0	0	0	0	1	0	0	0	10270	971	34	2	1375	2	NCKAP5	2	133540002	Missense_Mutation	SNP	G	TCGA-CH-5745-01A-11D-1576-08	58776836	133540002	109659371	6	346											
MCM6	4175	broad.mit.edu	37	chr2	136630397	136630397	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcaagtatttaatttctcCatcgctgctctgaaacctgc	9	15	6	11	1	2	1	0	1	2	0	4	1	2	1	2	0	4	4	2	0	4	5			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr2:136630397C>A	ENST00000264156.2	-	2	184	c.124G>T	c.(124-126)Gga>Tga	p.G42*		NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	42					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	TTAATTTCTCCATCGCTGCTC	0.403													4	171					1	1	1	1	0	A	136630397	C	A	136630397	4	1	8	1	0	0	0	0	0	1	0	0	9441	603	21	4	2405	4	MCM6	2	136630397	Nonsense_Mutation	SNP	C	TCGA-CH-5745-01A-11D-1576-08	3090395	136630397	106568976	7	347											
XIRP2	129446	broad.mit.edu	37	chr2	168106327	168106327	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaagcaaagagaatttagcGgatctgacagagggaaactt	16	7	13	5	1	1	3	0	1	1	2	1	7	1	6	0	3	3	1	0	3	5	3			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr2:168106327G>A	ENST00000409195.1	+	9	8514	c.8425G>A	c.(8425-8427)Gga>Aga	p.G2809R	XIRP2_ENST00000295237.9_Missense_Mutation_p.G2809R|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.G2587R|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2634					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGAATTTAGCGGATCTGACAG	0.403													4	97					0	0	1	0	0	A	168106327	G	A	168106327	3	1	8	1	0	0	0	0	1	0	0	0	17490	1117	39	1	8455	1	XIRP2	2	168106327	Missense_Mutation	SNP	G	TCGA-CH-5745-01A-11D-1576-08	31475930	168106327	75093046	8	348											
PIKFYVE	200576	broad.mit.edu	37	chr2	209212747	209212747	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcaaggcgttgagcctcaaGgtgtgttaaagaagagtaaa	15	9	12	5	1	2	3	2	1	0	2	2	3	2	3	1	2	1	3	1	2	7	3			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr2:209212747G>A	ENST00000264380.4	+	35	5532	c.5374_splice	c.e35+1	p.D1792_splice		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1792	PIPK.				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	p.D1792N(2)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TGAGCCTCAAGGTGTGTTAAA	0.408													5	172					0	0	1	0	0	A	209212747	G	A	209212747	5	1	8	1	0	0	0	0	0	0	1	0	11972	1014	35	2	5519	2	PIKFYVE	2	209212747	Splice_Site	SNP	G	TCGA-CH-5745-01A-11D-1576-08	41106420	209212747	33986626	9	349											
LRIG1	26018	broad.mit.edu	37	chr3	66463350	66463350	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgtcagtttgctgatgtTgtttcgctgaagcttcagca	7	16	10	8	1	3	2	2	2	1	0	4	2	3	2	0	0	3	7	0	0	1	4			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr3:66463350T>G	ENST00000383703.3	-	6	1339	c.736A>C	c.(736-738)Aac>Cac	p.N246H	LRIG1_ENST00000273261.3_Missense_Mutation_p.N246H			Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	246						integral to membrane		p.N246H(2)		NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TTGCTGATGTTGTTTCGCTGA	0.532													16	60					0	0	1	0	0	G	66463350	T	G	66463350	3	3	8	1	0	0	0	0	1	0	0	0	8989	1812	63	5	2601	5	LRIG1	3	66463350	Missense_Mutation	SNP	T	TCGA-CH-5745-01A-11D-1576-08		66463350	131559080	10	350											
CHRD	8646	broad.mit.edu	37	chr3	184104857	184104857	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagaaacaagatgtcagagActtgccagggctgccaagga	15	5	13	8	0	1	3	1	0	0	3	1	6	1	4	2	2	3	1	2	2	3	1			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr3:184104857A>G	ENST00000204604.1	+	18	2555	c.2309A>G	c.(2308-2310)gAc>gGc	p.D770G	CHRD_ENST00000450923.1_Missense_Mutation_p.D770G|CHRD_ENST00000348986.3_Missense_Mutation_p.D730G|CHRD_ENST00000545352.1_Missense_Mutation_p.D312G|EIF2B5_ENST00000444495.1_Intron	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	770					BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding	p.D770G(1)|p.D483G(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GATGTCAGAGACTTGCCAGGG	0.592													20	78					0	0	1	0	0	G	184104857	A	G	184104857	3	3	8	1	0	0	0	0	1	0	0	0	3394	275	10	3	2379	3	CHRD	3	184104857	Missense_Mutation	SNP	A	TCGA-CH-5745-01A-11D-1576-08	117641507	184104857	13917573	11	351											
FYTTD1	84248	broad.mit.edu	37	chr3	197497068	197497068	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgagacaaaatgaagggcaGaggaaaccagtagcagttct	16	6	12	7	0	1	3	0	2	1	2	1	5	1	4	1	2	2	4	1	2	5	2			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr3:197497068G>A	ENST00000428395.2	+	5	610	c.177G>A	c.(175-177)caG>caA	p.Q59Q	FYTTD1_ENST00000424384.2_Silent_p.Q83Q|FYTTD1_ENST00000415708.2_Silent_p.Q124Q|FYTTD1_ENST00000241502.3_Silent_p.Q150Q	NM_001011537.2	NP_001011537.2	Q96QD9	UIF_HUMAN	forty-two-three domain containing 1	150					mRNA export from nucleus	nuclear speck	mRNA binding|protein binding	p.Q150Q(1)		kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.175)		ATGAAGGGCAGAGGAAACCAG	0.348													4	21					0	0	1	0	0	A	197497068	G	A	197497068	2	1	8	1	0	0	0	0	0	0	0	1	6162	933	33	2		2	FYTTD1	3	197497068	Silent	SNP	G	TCGA-CH-5745-01A-11D-1576-08	13392211	197497068	525362	12	352											
USP46	64854	broad.mit.edu	37	chr4	53468062	53468062	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgcaaccaagtcatacatgCggtccaggttcactgcatca	11	8	8	14	2	3	0	3	0	0	0	4	0	4	0	3	2	4	3	3	2	3	2			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr4:53468062C>A	ENST00000441222.2	-	7	1065	c.881G>T	c.(880-882)cGc>cTc	p.R294L	USP46_ENST00000508499.1_Missense_Mutation_p.R287L|USP46_ENST00000451218.2_Missense_Mutation_p.R267L	NM_022832.3	NP_073743.2	P62068	UBP46_HUMAN	ubiquitin specific peptidase 46	294					behavior|protein deubiquitination|regulation of synaptic transmission, GABAergic|ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12			LUSC - Lung squamous cell carcinoma(32;0.0295)			GTCATACATGCGGTCCAGGTT	0.537													3	105					0.004672	0.0052383	1	1	0	A	53468062	C	A	53468062	3	1	8	1	0	0	0	0	1	0	0	0	17137	768	27	4	231	4	USP46	4	53468062	Missense_Mutation	SNP	C	TCGA-CH-5745-01A-11D-1576-08		53468062	137686214	13	353											
TDO2	6999	broad.mit.edu	37	chr4	156835562	156835562	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtccttatttgatgagaaaCgtcatgaacatctccttagt	11	15	7	8	1	2	3	1	3	1	1	4	4	3	3	2	0	2	0	2	0	4	3			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr4:156835562C>T	ENST00000536354.2	+	8	878	c.814C>T	c.(814-816)Cgt>Tgt	p.R272C		NM_005651.3	NP_005642.1	P48775	T23O_HUMAN	tryptophan 2,3-dioxygenase	272					tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity	p.R272C(1)		breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	L-Tryptophan(DB00150)	TGATGAGAAACGTCATGAACA	0.348													17	46					0	0	1	0	0	T	156835562	C	T	156835562	3	4	8	1	0	0	0	0	1	0	0	0	15786	536	19	1	844	1	TDO2	4	156835562	Missense_Mutation	SNP	C	TCGA-CH-5745-01A-11D-1576-08	103367500	156835562	34318714	14	354											
GABRP	2568	broad.mit.edu	37	chr5	170216165	170216165	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggagtcagttcaacgtcgAggtcggcagaagtgacaagc	11	6	16	8	3	2	2	2	1	0	1	4	4	2	3	0	4	2	2	0	4	3	1			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr5:170216165A>G	ENST00000518525.1	+	4	550	c.86A>G	c.(85-87)gAg>gGg	p.E29G	GABRP_ENST00000519385.1_Missense_Mutation_p.E29G|GABRP_ENST00000519598.1_Missense_Mutation_p.E29G|GABRP_ENST00000265294.4_Missense_Mutation_p.E29G			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	29						cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TTCAACGTCGAGGTCGGCAGA	0.473													3	165					0	0	1	0	0	G	170216165	A	G	170216165	3	3	8	1	0	0	0	0	1	0	0	0	6209	304	11	3	92	3	GABRP	5	170216165	Missense_Mutation	SNP	A	TCGA-CH-5745-01A-11D-1576-08		170216165	10699095	15	355											
FAM50B	26240	broad.mit.edu	37	chr6	3850735	3850735	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctggagctgcgctccgcCggcgtggagcagctcatgtt	4	10	14	13	4	1	0	1	0	0	0	3	2	3	2	3	3	4	5	3	3	0	2			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr6:3850735C>T	ENST00000380274.1	+	1	1116	c.690C>T	c.(688-690)gcC>gcT	p.A230A	FAM50B_ENST00000380272.3_Silent_p.A230A			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	230						nucleus		p.A230A(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				TGCGCTCCGCCGGCGTGGAGC	0.652													3	66					0	0	1	0	0	T	3850735	C	T	3850735	2	4	8	1	0	0	0	0	0	0	0	1	5614	639	23	1		1	FAM50B	6	3850735	Silent	SNP	C	TCGA-CH-5745-01A-11D-1576-08		3850735	167264332	16	356											
TAAR8	83551	broad.mit.edu	37	chr6	132873901	132873901	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaatggatcttgtattgaaActccctattctcctgggtcc	8	15	8	10	0	2	2	0	2	2	0	5	3	4	3	3	2	1	1	3	2	4	5			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr6:132873901A>G	ENST00000275200.1	+	1	70	c.70A>G	c.(70-72)Act>Gct	p.T24A		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	24						plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		TTGTATTGAAACTCCCTATTC	0.428													4	309					0	0	1	0	0	G	132873901	A	G	132873901	3	3	8	1	0	0	0	0	1	0	0	0	15550	43	2	3	72	3	TAAR8	6	132873901	Missense_Mutation	SNP	A	TCGA-CH-5745-01A-11D-1576-08	129023166	132873901	38241166	17	357											
BAZ1B	9031	broad.mit.edu	37	chr7	72858424	72858424	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgctgcaggggggatgaCgctgtgcttgccccggatgg	4	9	17	11	2	0	1	0	1	0	0	0	3	0	3	3	5	4	4	3	5	0	2			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr7:72858424C>A	ENST00000339594.4	-	17	4218	c.3880G>T	c.(3880-3882)Gtc>Ttc	p.V1294F	BAZ1B_ENST00000404251.1_Missense_Mutation_p.V1294F	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	1294					ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding	p.V1294I(1)		NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGGGGGATGACGCTGTGCTTG	0.562													5	219					0.000602214	0.00069631	1	1	0	A	72858424	C	A	72858424	3	1	8	1	0	0	0	0	1	0	0	0	1328	536	19	4	583	4	BAZ1B	7	72858424	Missense_Mutation	SNP	C	TCGA-CH-5745-01A-11D-1576-08		72858424	86280239	18	358											
ZC3HAV1	56829	broad.mit.edu	37	chr7	138764546	138764546	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagagcgggcggcaggtaGcgtgggagaaaacacagtct	13	4	17	7	3	1	3	0	0	1	3	1	4	1	3	0	4	3	2	0	4	4	1			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr7:138764546G>C	ENST00000242351.5	-	4	1457	c.1141C>G	c.(1141-1143)Cta>Gta	p.L381V	ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.L381V|ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.L381V	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	381					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding	p.L381V(1)		cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						GCGGCAGGTAGCGTGGGAGAA	0.532													68	201					0	0	1	0	0	C	138764546	G	C	138764546	3	2	8	1	0	0	0	0	1	0	0	0	17634	962	34	4	1611	4	ZC3HAV1	7	138764546	Missense_Mutation	SNP	G	TCGA-CH-5745-01A-11D-1576-08	65906122	138764546	20374117	19	359											
GIMAP1	170575	broad.mit.edu	37	chr7	150417468	150417468	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagttgggtcggttcaccGcccaggaccagcaggcggtg	6	6	15	14	3	1	0	1	0	0	0	2	1	1	1	4	5	1	3	4	5	0	2			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr7:150417468G>T	ENST00000307194.5	+	3	516	c.376G>T	c.(376-378)Gcc>Tcc	p.A126S		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1									p.A126T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCGGTTCACCGCCCAGGACCA	0.637													3	81					0.115264	0.123616	1	1	0	T	150417468	G	T	150417468	3	4	8	1	0	0	0	0	1	0	0	0	6421	1087	38	4	382	4	GIMAP1	7	150417468	Missense_Mutation	SNP	G	TCGA-CH-5745-01A-11D-1576-08	11652922	150417468	8721195	20	360											
NKX3-1	4824	broad.mit.edu	37	chr8	23539135	23539135	+	Frame_Shift_Del	DEL	A	A	-																															gttttcagagtccaacagatAagaccccaagtgcctttctg																										TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr8:23539135delA	ENST00000380871.4	-	2	341	c.304delT	c.(304-306)atfs	p.Y102fs	NKX3-1_ENST00000523261.1_Frame_Shift_Del_p.Y27fs	NM_006167.3	NP_006158.2	Q99801	NKX31_HUMAN	NK3 homeobox 1	102					negative regulation of estrogen receptor binding|negative regulation of transcription, DNA-dependent|positive regulation of cell division|positive regulation of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter	nucleus	estrogen receptor activity|estrogen receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region sequence-specific DNA binding			large_intestine(3)|lung(4)|prostate(5)|skin(2)	14		Prostate(55;0.114)		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)		TCCAACAGATAAGACCCCAAG	0.527													55	178	---	---	---	---						-	23539135	A	-	23539135	7	5	8	1	0	1	0	1	0	0	0	0	10502	362	13	0	404	0	NKX3-1	8	23539135	Frame_Shift_Del	DEL	A	TCGA-CH-5745-01A-11D-1576-08		23539135	122824887	21	361											
ZNF395	55893	broad.mit.edu	37	chr8	28209153	28209154	+	Frame_Shift_Ins	INS	-	-	A																															gaggtggtggaagagcagacINSagaggcaggccagtcatgct																										TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr8:28209153_28209154insA	ENST00000344423.5	-	7	1222_1223	c.1091_1092insT	c.(1090-1092)ctcfs	p.L364fs	ZNF395_ENST00000523095.1_Frame_Shift_Ins_p.L364fs|ZNF395_ENST00000523202.1_Frame_Shift_Ins_p.L364fs	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	364					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		GAAGAGCAGACAGAGGCAGGCC	0.663													13	257	---	---	---	---						A	28209154	-	A	28209153	7	5	8	1	0	1	1	0	0	0	0	0	17938	465	17	0	465	0	ZNF395	8	28209153	Frame_Shift_Ins	INS	-	TCGA-CH-5745-01A-11D-1576-08	4670018	28209153	118154869	22	362											
PLEC	5339	broad.mit.edu	37	chr8	144995013	144995013	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggtagagctcgcggtcGatgaccctgctctccagcag	6	9	13	13	3	1	2	0	1	1	1	4	3	1	2	2	2	4	5	2	2	1	1			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr8:144995013G>T	ENST00000322810.4	-	32	9556	c.9387C>A	c.(9385-9387)atC>atA	p.I3129I	PLEC_ENST00000527096.1_Silent_p.I3015I|PLEC_ENST00000345136.3_Silent_p.I2992I|PLEC_ENST00000398774.2_Silent_p.I2960I|PLEC_ENST00000354589.3_Silent_p.I2992I|PLEC_ENST00000436759.2_Silent_p.I3019I|PLEC_ENST00000354958.2_Silent_p.I2970I|PLEC_ENST00000356346.3_Silent_p.I2978I|PLEC_ENST00000357649.2_Silent_p.I2996I	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3129	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	p.I3019I(1)|p.I3129I(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCTCGCGGTCGATGACCCTGC	0.672													3	32					0.115264	0.123616	1	1	0	T	144995013	G	T	144995013	2	4	8	1	0	0	0	0	0	0	0	1	12100	1048	37	4		4	PLEC	8	144995013	Silent	SNP	G	TCGA-CH-5745-01A-11D-1576-08	116785860	144995013	1369009	23	363											
TRPM6	140803	broad.mit.edu	37	chr9	77448986	77448986	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaactgtccagatttttctCaaggaatgagaggaatggga	13	10	11	7	0	1	2	1	1	1	2	3	6	2	5	2	3	1	0	2	3	4	2			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr9:77448986C>A	ENST00000451710.3	-	6	834	c.597G>T	c.(595-597)ttG>ttT	p.L199F	TRPM6_ENST00000360774.1_Missense_Mutation_p.L199F|TRPM6_ENST00000449912.2_Missense_Mutation_p.L194F|TRPM6_ENST00000359047.2_Missense_Mutation_p.L199F|TRPM6_ENST00000376864.4_Missense_Mutation_p.L199F|TRPM6_ENST00000376871.3_Missense_Mutation_p.L199F|TRPM6_ENST00000376872.3_Missense_Mutation_p.L199F|TRPM6_ENST00000361255.3_Missense_Mutation_p.L194F			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	199					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						AGATTTTTCTCAAGGAATGAG	0.403													4	190					0.184627	0.192428	1	1	0	A	77448986	C	A	77448986	3	1	8	1	0	0	0	0	1	0	0	0	16651	825	29	4	5607	4	TRPM6	9	77448986	Missense_Mutation	SNP	C	TCGA-CH-5745-01A-11D-1576-08		77448986	63764445	24	364											
ZNF782	158431	broad.mit.edu	37	chr9	99580381	99580381	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaattatatggtttctcccCggtgtgagttcgctgatgtt	7	16	10	8	2	1	2	0	2	1	0	3	2	1	2	2	2	0	4	2	2	3	5			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr9:99580381C>T	ENST00000481138.1	-	6	2585	c.1924G>A	c.(1924-1926)Ggg>Agg	p.G642R	ZNF782_ENST00000535338.1_Missense_Mutation_p.G510R	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	642					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G642R(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				GGTTTCTCCCCGGTGTGAGTT	0.433													7	233					0	0	1	0	0	T	99580381	C	T	99580381	3	4	8	1	0	0	0	0	1	0	0	0	18204	652	23	1	179	1	ZNF782	9	99580381	Missense_Mutation	SNP	C	TCGA-CH-5745-01A-11D-1576-08	22131395	99580381	41633050	25	365											
NRP1	8829	broad.mit.edu	37	chr10	33469152	33469152	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagtacagcacgaccccaCagacagcccccaggaggacc	13	1	9	18	1	0	1	0	0	0	1	0	4	0	3	5	2	3	2	5	2	1	1	rs142822518	by1000genomes	TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr10:33469152C>T	ENST00000265371.4	-	18	3149	c.2624G>A	c.(2623-2625)tGt>tAt	p.C875Y	NRP1_ENST00000374867.2_Missense_Mutation_p.C875Y|NRP1_ENST00000395995.1_Missense_Mutation_p.C858Y			O14786	NRP1_HUMAN	neuropilin 1	875					axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	CACGACCCCACAGACAGCCCC	0.517													6	335					0	0	1	0	0	T	33469152	C	T	33469152	3	4	8	1	0	0	0	0	1	0	0	0	10708	478	17	2	151	2	NRP1	10	33469152	Missense_Mutation	SNP	C	TCGA-CH-5745-01A-11D-1576-08		33469152	102065595	26	366											
PANK1	53354	broad.mit.edu	37	chr10	91359112	91359112	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtatgggttatcaaggcAgtacggctttttttgacaca	10	13	12	6	1	1	1	1	1	0	0	1	1	1	1	0	4	1	5	0	4	4	6			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr10:91359112A>T	ENST00000307534.4	-	3	1362	c.1207T>A	c.(1207-1209)Tgc>Agc	p.C403S	PANK1_ENST00000342512.3_Missense_Mutation_p.C178S|PANK1_ENST00000322191.6_Missense_Mutation_p.C178S|PANK1_ENST00000371774.2_Missense_Mutation_p.C205S	NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN	pantothenate kinase 1	403					coenzyme A biosynthetic process|pantothenate metabolic process	cytosol|nucleus	ATP binding|pantothenate kinase activity	p.C403S(1)		cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11					Bezafibrate(DB01393)	TTATCAAGGCAGTACGGCTTT	0.448													38	338					0	0	1	0	0	T	91359112	A	T	91359112	3	4	8	1	0	0	0	0	1	0	0	0	11463	188	7	5	609	5	PANK1	10	91359112	Missense_Mutation	SNP	A	TCGA-CH-5745-01A-11D-1576-08	57889960	91359112	44175635	27	367											
HBG2	3048	broad.mit.edu	37	chr11	5275542	5275542	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgaagttctcaggatccaCatgcagcttgtcacagtgca	10	11	9	11	0	2	1	2	1	1	0	4	2	3	2	1	1	3	4	1	1	1	3			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr11:5275542C>T	ENST00000380259.2	-	7	1535	c.295G>A	c.(295-297)Gtg>Atg	p.V99M	HBG2_ENST00000336906.4_Missense_Mutation_p.V99M|HBG2_ENST00000380252.1_Missense_Mutation_p.V89M					hemoglobin, gamma G									p.V99M(1)		endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	13		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCAGGATCCACATGCAGCTTG	0.498													46	276					0	0	1	0	0	T	5275542	C	T	5275542	3	4	8	1	0	0	0	0	1	0	0	0	7024	478	17	2	156	2	HBG2	11	5275542	Missense_Mutation	SNP	C	TCGA-CH-5745-01A-11D-1576-08		5275542	129730974	28	368											
MRGPRX2	117194	broad.mit.edu	37	chr11	19077003	19077003	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccggggtgccctgacggaagCatccttcactgtgatccacc	7	8	11	15	2	1	2	1	2	0	0	3	3	3	3	5	3	2	1	5	3	1	1			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr11:19077003C>A	ENST00000329773.2	-	2	1034	c.947G>T	c.(946-948)tGc>tTc	p.C316F		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	316					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						CTGACGGAAGCATCCTTCACT	0.552													4	134					0.150653	0.159262	1	1	0	A	19077003	C	A	19077003	3	1	8	1	0	0	0	0	1	0	0	0	9816	710	25	4	49	4	MRGPRX2	11	19077003	Missense_Mutation	SNP	C	TCGA-CH-5745-01A-11D-1576-08	13801461	19077003	115929513	29	369											
OR5D16	390144	broad.mit.edu	37	chr11	55606429	55606429	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtattttttcctcaaccacCtctcctttgtggatttctgc	5	19	5	12	0	3	0	1	0	2	0	5	1	4	1	4	1	2	1	4	1	2	6			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr11:55606429C>A	ENST00000378396.1	+	1	202	c.202C>A	c.(202-204)Ctc>Atc	p.L68I		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L68I(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				CCTCAACCACCTCTCCTTTGT	0.433													77	475					3.1711e-36	3.78486e-36	1	1	0	A	55606429	C	A	55606429	3	1	8	1	0	0	0	0	1	0	0	0	11203	681	24	4	204	4	OR5D16	11	55606429	Missense_Mutation	SNP	C	TCGA-CH-5745-01A-11D-1576-08	36529426	55606429	79400087	30	370											
FEN1	2237	broad.mit.edu	37	chr11	61563030	61563030	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaccaccagccacctgatggGcatgttctaccgcaccattc	9	8	8	16	1	1	1	0	1	1	0	2	2	1	1	6	1	2	3	6	1	1	3			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr11:61563030G>A	ENST00000305885.2	+	2	610	c.197G>A	c.(196-198)gGc>gAc	p.G66D	FADS2_ENST00000574708.1_Intron	NM_004111.5	NP_004102.1	P39748	FEN1_HUMAN	flap structure-specific endonuclease 1	66	N-domain.				base-excision repair|DNA replication, removal of RNA primer|double-strand break repair|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|UV protection	mitochondrion|nucleolus|nucleoplasm	5'-3' exonuclease activity|5'-flap endonuclease activity|damaged DNA binding|double-stranded DNA binding|double-stranded DNA specific exodeoxyribonuclease activity|metal ion binding|protein binding|ribonuclease H activity			endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						CACCTGATGGGCATGTTCTAC	0.542								Editing and processing nucleases					4	118					0	0	1	0	0	A	61563030	G	A	61563030	3	1	8	1	0	0	0	0	1	0	0	0	5845	1203	42	2	199	2	FEN1	11	61563030	Missense_Mutation	SNP	G	TCGA-CH-5745-01A-11D-1576-08	5956601	61563030	73443486	31	371											
GRM5	2915	broad.mit.edu	37	chr11	88583140	88583140	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcagcagacctctcaccGtcatgccctcacagaagcag	11	6	7	17	1	4	2	4	0	1	2	5	2	4	2	4	0	3	2	4	0	1	0			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr11:88583140G>A	ENST00000418177.2	-	3	1212	c.845C>T	c.(844-846)aCg>aTg	p.T282M	GRM5_ENST00000305447.4_Missense_Mutation_p.T282M|GRM5_ENST00000393297.1_Missense_Mutation_p.T282M|GRM5_ENST00000305432.5_Missense_Mutation_p.T282M|GRM5_ENST00000455756.2_Missense_Mutation_p.T282M			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	282					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.T282M(2)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	ACCTCTCACCGTCATGCCCTC	0.522													53	112					0	0	1	0	0	A	88583140	G	A	88583140	3	1	8	1	0	0	0	0	1	0	0	0	6841	1145	40	1	2825	1	GRM5	11	88583140	Missense_Mutation	SNP	G	TCGA-CH-5745-01A-11D-1576-08	27020110	88583140	46423376	32	372											
PTPRO	5800	broad.mit.edu	37	chr12	15731856	15731856	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgaatcgatgtaaaaacCgttacacaaacatcctacca	17	8	4	12	2	0	1	0	1	0	0	2	2	1	1	3	0	4	2	3	0	7	3			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr12:15731856C>T	ENST00000281171.4	+	20	3229	c.2899C>T	c.(2899-2901)Cgt>Tgt	p.R967C	PTPRO_ENST00000442921.2_Missense_Mutation_p.R156C|PTPRO_ENST00000348962.2_Missense_Mutation_p.R939C|PTPRO_ENST00000445537.2_Missense_Mutation_p.R156C|PTPRO_ENST00000544244.1_Missense_Mutation_p.R128C|PTPRO_ENST00000542557.1_Missense_Mutation_p.R128C	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	967	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.R967C(1)		NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				ATGTAAAAACCGTTACACAAA	0.393													21	129					0	0	1	0	0	T	15731856	C	T	15731856	3	4	8	1	0	0	0	0	1	0	0	0	12861	652	23	1	2977	1	PTPRO	12	15731856	Missense_Mutation	SNP	C	TCGA-CH-5745-01A-11D-1576-08		15731856	118120039	33	373											
TCTN2	79867	broad.mit.edu	37	chr12	124171487	124171488	+	Frame_Shift_Ins	INS	-	-	ACGAC																															agctctgctctgctgggacgINSacgacacgtggtgtccccga																										TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr12:124171487_124171488insACGAC	ENST00000303372.5	+	6	797_798	c.669_670insACGAC	c.(667-672)accgacfs	p.D224fs	TCTN2_ENST00000426174.2_Frame_Shift_Ins_p.D223fs	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	224					cilium assembly|smoothened signaling pathway	integral to membrane				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		CTGCTGGGACGACGACACGTGG	0.525													7	798	---	---	---	---						ACGAC	124171488	-	ACGAC	124171487	7	5	8	1	0	1	1	0	0	0	0	0	15782	1045	37	0	691	0	TCTN2	12	124171487	Frame_Shift_Ins	INS	-	TCGA-CH-5745-01A-11D-1576-08	108439631	124171487	9680408	34	374											
CENPJ	55835	broad.mit.edu	37	chr13	25486853	25486853	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgccgctacctgtggtcccTttttaatgcaaggaaaggct	9	12	10	10	1	0	0	0	0	0	0	1	1	1	1	3	3	3	3	3	3	4	4			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr13:25486853T>C	ENST00000381884.4	-	2	496	c.311A>G	c.(310-312)aAg>aGg	p.K104R	CENPJ_ENST00000545981.1_Missense_Mutation_p.K104R	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	104					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		CTGTGGTCCCTTTTTAATGCA	0.438													5	306					0	0	1	0	0	C	25486853	T	C	25486853	3	2	8	1	0	0	0	0	1	0	0	0	3256	1609	56	3	3769	3	CENPJ	13	25486853	Missense_Mutation	SNP	T	TCGA-CH-5745-01A-11D-1576-08		25486853	89683025	35	375											
NBEA	26960	broad.mit.edu	37	chr13	36158143	36158143	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ataatacccattattcaacaGcaacatctactttatcctgg	14	13	3	11	0	2	0	1	0	1	0	3	0	3	0	2	1	5	1	2	1	7	7			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr13:36158143G>A	ENST00000540320.1	+	46	7678	c.7144G>A	c.(7144-7146)Gca>Aca	p.A2382T	NBEA_ENST00000400445.3_Missense_Mutation_p.A2382T|NBEA_ENST00000379939.2_Missense_Mutation_p.A2379T|NBEA_ENST00000310336.4_Missense_Mutation_p.A2382T|NBEA_ENST00000537702.1_Missense_Mutation_p.A175T			Q8NFP9	NBEA_HUMAN	neurobeachin	2382	BEACH.					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TTATTCAACAGCAACATCTAC	0.363													5	344					0	0	1	0	0	A	36158143	G	A	36158143	3	1	8	1	0	0	0	0	1	0	0	0	10235	971	34	2	7326	2	NBEA	13	36158143	Missense_Mutation	SNP	G	TCGA-CH-5745-01A-11D-1576-08	10671290	36158143	79011735	36	376											
CCNA1	8900	broad.mit.edu	37	chr13	37006834	37006834	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gagaagagtatctcagctggGaaggaccggggctcccagat	11	6	15	9	1	1	3	1	0	1	3	3	6	2	5	2	4	1	3	2	4	3	1			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr13:37006834G>A	ENST00000418263.1	+	1	426	c.76G>A	c.(76-78)Gaa>Aaa	p.E26K	CCNA1_ENST00000255465.4_Missense_Mutation_p.E26K|CCNA1_ENST00000440264.1_Intron|CCNA1_ENST00000449823.1_Intron|CCNA1_ENST00000463403.1_Intron	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	cyclin A1	26					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding	p.E26K(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		TCTCAGCTGGGAAGGACCGGG	0.552													11	41					0	0	1	0	0	A	37006834	G	A	37006834	3	1	8	1	0	0	0	0	1	0	0	0	2931	1175	41	2	78	2	CCNA1	13	37006834	Missense_Mutation	SNP	G	TCGA-CH-5745-01A-11D-1576-08	848691	37006834	78163044	37	377											
GOLGA5	9950	broad.mit.edu	37	chr14	93264023	93264023	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagccaccatcttagctggcActgcaaatgtgaaagtagga	14	8	10	9	0	1	1	0	1	1	0	1	2	1	2	2	2	3	4	2	2	5	2			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr14:93264023A>C	ENST00000163416.2	+	2	497	c.241A>C	c.(241-243)Act>Cct	p.T81P	GOLGA5_ENST00000355976.2_Missense_Mutation_p.T81P	NM_005113.2	NP_005104.2	Q8TBA6	GOGA5_HUMAN	golgin A5	81					Golgi organization	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding	p.T81P(1)		large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		CTTAGCTGGCACTGCAAATGT	0.413			T	RET	papillary thyroid								10	175					0	0	1	0	0	C	93264023	A	C	93264023	3	2	8	1	0	0	0	0	1	0	0	0	6598	159	6	5	243	5	GOLGA5	14	93264023	Missense_Mutation	SNP	A	TCGA-CH-5745-01A-11D-1576-08		93264023	14085517	38	378											
AHNAK2	113146	broad.mit.edu	37	chr14	105414189	105414189	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtcagcggaagggggctgAatgctgaggtcagtggcctt	8	8	18	7	1	2	2	2	2	0	0	2	3	2	3	1	6	2	2	1	6	2	1			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr14:105414189A>T	ENST00000333244.5	-	7	7718	c.7599T>A	c.(7597-7599)atT>atA	p.I2533I	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2533						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AAGGGGGCTGAATGCTGAGGT	0.667													6	343					0	0	1	0	0	T	105414189	A	T	105414189	2	4	8	1	0	0	0	0	0	0	0	1	412	242	9	5		5	AHNAK2	14	105414189	Silent	SNP	A	TCGA-CH-5745-01A-11D-1576-08	12150166	105414189	1935351	39	379											
INO80	54617	broad.mit.edu	37	chr15	41384239	41384239	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttacctccttgtctttacTatacttattttggtgaagtt	7	21	5	8	0	2	1	0	1	2	0	3	1	3	1	2	1	3	1	2	1	6	10			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr15:41384239T>G	ENST00000361937.3	-	5	947	c.523A>C	c.(523-525)Agt>Cgt	p.S175R	INO80_ENST00000401393.3_Missense_Mutation_p.S175R			Q9ULG1	INO80_HUMAN	INO80 complex subunit	175	Assembles INO80 complex module with putative regulatory components INO80E, INO80F, UCHL5, NFRKB, MCRS1 and IN80D.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity	p.S175R(2)		NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TTGTCTTTACTATACTTATTT	0.373													57	184					0	0	1	0	0	G	41384239	T	G	41384239	3	3	8	1	0	0	0	0	1	0	0	0	7790	1522	53	5	4275	5	INO80	15	41384239	Missense_Mutation	SNP	T	TCGA-CH-5745-01A-11D-1576-08		41384239	61147153	40	380											
PARP16	54956	broad.mit.edu	37	chr15	65559013	65559013	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggtctcataaaatttggCgttggctgggtcaaagtact	9	15	11	6	1	2	0	2	0	1	0	3	0	2	0	0	4	1	3	0	4	4	5			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr15:65559013C>T	ENST00000261888.6	-	3	851	c.406G>A	c.(406-408)Gcc>Acc	p.A136T	PARP16_ENST00000558873.1_5'UTR|PARP16_ENST00000444347.2_Intron	NM_017851.4	NP_060321.3	Q8N5Y8	PAR16_HUMAN	poly (ADP-ribose) polymerase family, member 16	136	PARP catalytic.					integral to membrane	NAD+ ADP-ribosyltransferase activity	p.A136T(1)		kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						TAAAATTTGGCGTTGGCTGGG	0.458													4	86					0	0	1	0	0	T	65559013	C	T	65559013	3	4	8	1	0	0	0	0	1	0	0	0	11507	768	27	1	581	1	PARP16	15	65559013	Missense_Mutation	SNP	C	TCGA-CH-5745-01A-11D-1576-08	24174774	65559013	36972379	41	381											
TXNDC11	51061	broad.mit.edu	37	chr16	11785489	11785489	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaccttgttcagagtcgatGaagcctgacacacccctgct	10	9	8	14	1	1	3	1	2	0	1	2	4	1	3	4	0	2	2	4	0	1	2			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr16:11785489G>A	ENST00000356957.3	-	9	1745	c.1638C>T	c.(1636-1638)ttC>ttT	p.F546F	TXNDC11_ENST00000283033.5_Silent_p.F519F			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	546					cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane		p.F519F(1)		endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						CAGAGTCGATGAAGCCTGACA	0.468													98	205					0	0	1	0	0	A	11785489	G	A	11785489	2	1	8	1	0	0	0	0	0	0	0	1	16854	1281	45	2		2	TXNDC11	16	11785489	Silent	SNP	G	TCGA-CH-5745-01A-11D-1576-08		11785489	78569264	42	382											
VWA3A	146177	broad.mit.edu	37	chr16	22120821	22120821	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggcatttggcctcatcaaaGgggccagagtcagcatcctc	10	8	11	12	0	3	1	3	0	0	1	5	1	4	1	3	4	1	2	3	4	1	1			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr16:22120821G>A	ENST00000389398.5	+	7	598	c.502G>A	c.(502-504)Ggg>Agg	p.G168R	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	168						extracellular region		p.G168R(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		CCTCATCAAAGGGGCCAGAGT	0.512													9	16					0	0	1	0	0	A	22120821	G	A	22120821	3	1	8	1	0	0	0	0	1	0	0	0	17300	1000	35	2	528	2	VWA3A	16	22120821	Missense_Mutation	SNP	G	TCGA-CH-5745-01A-11D-1576-08	10335332	22120821	68233932	43	383											
KIAA0556	23247	broad.mit.edu	37	chr16	27782957	27782957	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcatggactacgaggcaccGctgatgccctgtggctgtat	8	9	13	11	2	0	1	0	1	0	0	0	3	0	2	2	3	3	5	2	3	2	2			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr16:27782957G>A	ENST00000261588.4	+	22	4201	c.4182G>A	c.(4180-4182)ccG>ccA	p.P1394P		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1394								p.P1394P(4)		breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						ACGAGGCACCGCTGATGCCCT	0.607													7	134					0	0	1	0	0	A	27782957	G	A	27782957	2	1	8	1	0	0	0	0	0	0	0	1	8225	1074	38	1		1	KIAA0556	16	27782957	Silent	SNP	G	TCGA-CH-5745-01A-11D-1576-08	5662136	27782957	62571796	44	384											
MYH2	4620	broad.mit.edu	37	chr17	10430104	10430104	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcagggcatgcgccagggcGttcttggcctatggaggcag	6	8	17	10	2	1	0	0	0	1	0	1	1	1	1	2	5	2	4	2	5	1	3			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr17:10430104G>A	ENST00000245503.5	-	30	4383	c.3999C>T	c.(3997-3999)aaC>aaT	p.N1333N	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Intron|MYH2_ENST00000397183.2_Silent_p.N1333N|CTC-297N7.7_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1333					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.N1333N(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GCGCCAGGGCGTTCTTGGCCT	0.498													5	151					0	0	1	0	0	A	10430104	G	A	10430104	2	1	8	1	0	0	0	0	0	0	0	1	10083	1136	40	1		1	MYH2	17	10430104	Silent	SNP	G	TCGA-CH-5745-01A-11D-1576-08		10430104	70765106	45	385											
PGAP3	93210	broad.mit.edu	37	chr17	37830251	37830251	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggcaggctcacctgacGcagcacaggtagattgagtg	10	6	13	12	1	1	3	1	2	0	1	1	3	1	3	2	3	1	5	2	3	1	2	rs147768703	byFrequency	TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr17:37830251G>A	ENST00000300658.4	-	5	644	c.552C>T	c.(550-552)tgC>tgT	p.C184C	PGAP3_ENST00000579146.1_Intron|PGAP3_ENST00000378011.4_Silent_p.C133C|PGAP3_ENST00000429199.2_Silent_p.C163C	NM_033419.3	NP_219487.3	Q96FM1	PGAP3_HUMAN	post-GPI attachment to proteins 3	184					GPI anchor biosynthetic process	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	hydrolase activity, acting on ester bonds	p.C184C(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						CTCACCTGACGCAGCACAGGT	0.587													20	36					0	0	1	0	0	A	37830251	G	A	37830251	2	1	8	1	0	0	0	0	0	0	0	1	11827	1079	38	1		1	PGAP3	17	37830251	Silent	SNP	G	TCGA-CH-5745-01A-11D-1576-08	27400147	37830251	43364959	46	386											
WNK4	65266	broad.mit.edu	37	chr17	40934857	40934857	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgcagcaccccaacatcGtccgcttctatgattcgtgg	7	10	10	14	3	1	1	0	1	1	0	4	1	2	1	3	2	3	4	3	2	2	3			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr17:40934857G>A	ENST00000246914.5	+	2	721	c.700G>A	c.(700-702)Gtc>Atc	p.V234I		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	234	Protein kinase.				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	p.V234I(2)|p.V222I(1)		NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CCCCAACATCGTCCGCTTCTA	0.602													24	60					0	0	1	0	0	A	40934857	G	A	40934857	3	1	8	1	0	0	0	0	1	0	0	0	17440	1145	40	1	706	1	WNK4	17	40934857	Missense_Mutation	SNP	G	TCGA-CH-5745-01A-11D-1576-08	3104606	40934857	40260353	47	387											
NMT1	4836	broad.mit.edu	37	chr17	43138780	43138780	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggaacgggaacggccatgAgcactgcagcgattgcgaga	12	4	16	9	4	0	2	0	1	0	1	0	6	0	4	1	3	6	2	1	3	2	1			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr17:43138780A>T	ENST00000592782.1	+	2	214	c.83A>T	c.(82-84)gAg>gTg	p.E28V	NMT1_ENST00000258960.2_Missense_Mutation_p.E28V|NMT1_ENST00000590114.1_3'UTR			P30419	NMT1_HUMAN	N-myristoyltransferase 1	28					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity	p.E28V(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				AACGGCCATGAGCACTGCAGC	0.602													3	36					0	0	1	0	0	T	43138780	A	T	43138780	3	4	8	1	0	0	0	0	1	0	0	0	10550	304	11	5	85	5	NMT1	17	43138780	Missense_Mutation	SNP	A	TCGA-CH-5745-01A-11D-1576-08	2203923	43138780	38056430	48	388											
LRRC8E	80131	broad.mit.edu	37	chr19	7964266	7964266	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcagtttcctggtggcctgtAgggtggagacgtcagaggtc	6	11	16	8	1	2	2	2	0	0	2	4	3	3	2	2	5	0	2	2	5	1	2			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr19:7964266A>C	ENST00000306708.6	+	3	960	c.859A>C	c.(859-861)Agg>Cgg	p.R287R	AC010336.1_ENST00000539278.1_3'UTR	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	287						integral to membrane				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						GGTGGCCTGTAGGGTGGAGAC	0.542													3	93					0	0	1	0	0	C	7964266	A	C	7964266	2	2	8	1	0	0	0	0	0	0	0	1	9070	411	15	5		5	LRRC8E	19	7964266	Silent	SNP	A	TCGA-CH-5745-01A-11D-1576-08		7964266	51164717	49	389											
SLC1A6	6511	broad.mit.edu	37	chr19	15067354	15067354	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgaaggggaaggggttcCggtgagtgacgaggaagtag	12	6	19	4	2	0	3	0	3	0	0	1	6	1	5	1	6	0	2	1	6	5	2			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr19:15067354C>T	ENST00000430939.2	-	6	1040	c.911G>A	c.(910-912)cGg>cAg	p.R304Q	SLC1A6_ENST00000221742.3_Missense_Mutation_p.R368Q|SLC1A6_ENST00000600144.1_Intron			P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	368					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.R368Q(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	GAAGGGGTTCCGGTGAGTGAC	0.607													3	59					0	0	1	0	0	T	15067354	C	T	15067354	3	4	8	1	0	0	0	0	1	0	0	0	14491	652	23	1	607	1	SLC1A6	19	15067354	Missense_Mutation	SNP	C	TCGA-CH-5745-01A-11D-1576-08	7103088	15067354	44061629	50	390											
BANF2	140836	broad.mit.edu	37	chr20	17705710	17705710	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggctgagagccttcctctccGaacccattggagaaaaggat	11	8	11	11	1	1	2	0	1	1	2	3	6	2	3	4	3	2	1	4	3	3	2			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr20:17705710G>A	ENST00000246090.5	+	3	302	c.40G>A	c.(40-42)Gaa>Aaa	p.E14K	BANF2_ENST00000377805.3_Missense_Mutation_p.E14K|BANF2_ENST00000545418.2_Missense_Mutation_p.E21K	NM_178477.4	NP_848572.3	Q9H503	BAFL_HUMAN	barrier to autointegration factor 2	14						cytoplasm|nucleus	DNA binding	p.E14K(1)		large_intestine(1)|lung(1)|prostate(3)|skin(1)	6						CTTCCTCTCCGAACCCATTGG	0.502													42	161					0	0	1	0	0	A	17705710	G	A	17705710	3	1	8	1	0	0	0	0	1	0	0	0	1306	1059	37	1	67	1	BANF2	20	17705710	Missense_Mutation	SNP	G	TCGA-CH-5745-01A-11D-1576-08		17705710	45319810	51	391											
TSSK2	23617	broad.mit.edu	37	chr22	19119550	19119550	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtacatcatggtctgcggctCcatgccctatgacgactccg	7	10	10	14	3	2	1	1	1	1	0	4	2	4	1	3	2	3	2	3	2	2	2			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chr22:19119550C>A	ENST00000399635.2	+	1	1230	c.638C>A	c.(637-639)tCc>tAc	p.S213Y	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	213	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.S213Y(2)		endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					GTCTGCGGCTCCATGCCCTAT	0.592													87	144					4.47867e-22	5.26066e-22	1	1	0	A	19119550	C	A	19119550	3	1	8	1	0	0	0	0	1	0	0	0	16730	855	30	4	640	4	TSSK2	22	19119550	Missense_Mutation	SNP	C	TCGA-CH-5745-01A-11D-1576-08		19119550	32185016	52	392											
BCORL1	63035	broad.mit.edu	37	chrX	129155089	129155089	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agccgacaaagccggagtccCagtctccaggaaaacgagcc	13	3	11	14	3	1	0	0	0	1	0	3	4	2	2	5	2	4	0	5	2	3	0			TCGA-CH-5745-01A-11D-1576-08	TCGA-CH-5745-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51db8439-c35f-472e-baf0-8e6e22833c39	e32b30c3-6ed3-42ce-ad17-69b26146f7e4	g.chrX:129155089C>A	ENST00000540052.1	+	4	3615	c.3571C>A	c.(3571-3573)Cag>Aag	p.Q1191K	BCORL1_ENST00000359304.2_Missense_Mutation_p.Q1191K|BCORL1_ENST00000218147.7_Missense_Mutation_p.Q1191K|BCORL1_ENST00000303743.5_Missense_Mutation_p.Q1191K	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1191					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		p.Q1191K(1)		breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GCCGGAGTCCCAGTCTCCAGG	0.622													3	23					1	1	1	1	0	A	129155089	C	A	129155089	3	1	8	1	0	0	0	0	1	0	0	0	1385	595	21	4	3585	4	BCORL1	23	129155089	Missense_Mutation	SNP	C	TCGA-CH-5745-01A-11D-1576-08		129155089	26115471	53	393											
AGTRAP	57085	broad.mit.edu	37	chr1	11810282	11810282	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcgcccggccctgccccggGccttcctcgtgcctgggagg	1	7	15	18	4	0	0	0	0	0	0	2	1	1	1	7	4	3	0	7	4	0	1			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr1:11810282G>T	ENST00000510878.1	+	4	441	c.407G>T	c.(406-408)gGc>gTc	p.G136V	AGTRAP_ENST00000491346.1_3'UTR|AGTRAP_ENST00000452018.2_3'UTR|AGTRAP_ENST00000400895.2_3'UTR|AGTRAP_ENST00000376627.2_3'UTR|AGTRAP_ENST00000376629.4_3'UTR|AGTRAP_ENST00000376637.3_3'UTR|AGTRAP_ENST00000314340.5_3'UTR			Q6RW13	ATRAP_HUMAN	angiotensin II receptor-associated protein	0						cytoplasmic vesicle membrane|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein binding		AGTRAP/BRAF(2)	endometrium(1)|lung(3)|prostate(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.46e-06)|COAD - Colon adenocarcinoma(227;0.000256)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		CCTGCCCCGGGCCTTCCTCGT	0.637													4	12					0.014758	0.01665	1	1	0	T	11810282	G	T	11810282	3	4	9	1	0	0	0	0	1	0	0	0	400	1218	42	4		4	AGTRAP	1	11810282	Missense_Mutation	SNP	G	TCGA-CH-5746-01A-11D-1576-08		11810282	237440339	1	394											
ZNF683	257101	broad.mit.edu	37	chr1	26691329	26691329	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctcattgaccatcatcagCaggctaggcatagccatggt	11	9	10	11	0	3	1	3	1	0	0	3	1	3	1	2	3	3	4	2	3	2	3			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr1:26691329C>A	ENST00000436292.1	-	4	828	c.708G>T	c.(706-708)ctG>ctT	p.L236L	ZNF683_ENST00000349618.3_Silent_p.L236L|ZNF683_ENST00000374204.1_Silent_p.L236L|ZNF683_ENST00000403843.1_Silent_p.L236L			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	236					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L236L(1)|p.L221L(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		CCATCATCAGCAGGCTAGGCA	0.632													13	119					0.000422831	0.000502827	1	1	0	A	26691329	C	A	26691329	2	1	9	1	0	0	0	0	0	0	0	1	18146	697	25	4		4	ZNF683	1	26691329	Silent	SNP	C	TCGA-CH-5746-01A-11D-1576-08	14881047	26691329	222559292	2	395											
COL9A2	1298	broad.mit.edu	37	chr1	40769637	40769637	+	Frame_Shift_Del	DEL	G	G	-																															cggggaggccggccacccctGggtcaccctgcagagagaac																										TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr1:40769637delG	ENST00000372748.3	-	26	1427	c.1331delC	c.(1330-1332)cafs	p.P444fs	COL9A2_ENST00000466267.1_5'UTR	NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	444	Triple-helical region 3 (COL3).				axon guidance|skeletal system development	collagen type IX				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			GGCCACCCCTGGGTCACCCTG	0.736													2	4	---	---	---	---						-	40769637	G	-	40769637	7	5	9	1	0	1	0	1	0	0	0	0	3731	1348	47	0	766	0	COL9A2	1	40769637	Frame_Shift_Del	DEL	G	TCGA-CH-5746-01A-11D-1576-08	14078308	40769637	208480984	3	396											
CYR61	3491	broad.mit.edu	37	chr1	86048170	86048170	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtattgttcaaacaacttcaTggtcccagtgctcaaagacc	12	11	7	11	0	3	1	3	0	0	1	4	1	4	1	2	1	3	3	2	1	4	4			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr1:86048170T>C	ENST00000451137.2	+	4	930	c.706T>C	c.(706-708)Tgg>Cgg	p.W236R		NM_001554.4	NP_001545.2	O00622	CYR61_HUMAN	cysteine-rich, angiogenic inducer, 61	236	TSP type-1.				cell proliferation|chemotaxis|positive regulation of BMP signaling pathway|positive regulation of cell migration|positive regulation of osteoblast differentiation|positive regulation of osteoblast proliferation|positive regulation of protein kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell growth|regulation of ERK1 and ERK2 cascade|wound healing, spreading of cells	extracellular region	heparin binding|insulin-like growth factor binding	p.W236R(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|prostate(1)	5				all cancers(265;0.0216)|Epithelial(280;0.0441)		AACAACTTCATGGTCCCAGTG	0.458											OREG0013583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	110					0	0	1	0	0	C	86048170	T	C	86048170	3	2	9	1	0	0	0	0	1	0	0	0	4222	1464	51	3	720	3	CYR61	1	86048170	Missense_Mutation	SNP	T	TCGA-CH-5746-01A-11D-1576-08	45278533	86048170	163202451	4	397											
HIST3H3	8290	broad.mit.edu	37	chr1	228612642	228612642	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgctccccgcggatacggcGtgccagctggatgtccttag	5	8	13	15	5	0	0	0	0	0	0	2	2	2	2	5	3	3	2	5	3	2	2			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr1:228612642G>A	ENST00000366696.1	-	1	384	c.385C>T	c.(385-387)Cgc>Tgc	p.R129C		NM_003493.2	NP_003484.1	Q16695	H31T_HUMAN	histone cluster 3, H3	129					nucleosome assembly|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	p.R129C(1)		large_intestine(1)|lung(2)|prostate(2)|skin(1)	6		Prostate(94;0.0724)				CGGATACGGCGTGCCAGCTGG	0.602													6	85					0	0	1	0	0	A	228612642	G	A	228612642	3	1	9	1	0	0	0	0	1	0	0	0	7225	1145	40	1	29	1	HIST3H3	1	228612642	Missense_Mutation	SNP	G	TCGA-CH-5746-01A-11D-1576-08	142564472	228612642	20637979	5	398											
NID1	4811	broad.mit.edu	37	chr1	236228307	236228308	+	Frame_Shift_Ins	INS	-	-	C																															cggctcaggcagcccacaggINSccccgccagcagcagcggca																										TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr1:236228307_236228308insC	ENST00000264187.6	-	1	154_155	c.72_73insG	c.(70-75)ggctgtfs	p.C25fs	NID1_ENST00000366595.3_Frame_Shift_Ins_p.C25fs	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	25					cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	CAGCCCACAGGCCCCGCCAGCA	0.708													2	4	---	---	---	---						C	236228308	-	C	236228307	7	5	9	1	0	1	1	0	0	0	0	0	10461	1203	42	0	3750	0	NID1	1	236228307	Frame_Shift_Ins	INS	-	TCGA-CH-5746-01A-11D-1576-08	7615665	236228307	13022314	6	399											
PDK1	5163	broad.mit.edu	37	chr2	173457705	173457705	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatatcacgtctttacgcaCaatacttccaaggagacctg	12	10	6	13	2	2	1	1	0	1	1	3	2	3	1	3	1	2	1	3	1	5	5			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr2:173457705C>A	ENST00000410055.1	+	10	1199	c.1099C>A	c.(1099-1101)Caa>Aaa	p.Q367K	PDK1_ENST00000544863.1_Missense_Mutation_p.Q212K|PDK1_ENST00000543905.1_Missense_Mutation_p.Q291K|PDK1_ENST00000392571.2_Missense_Mutation_p.Q387K|PDK1_ENST00000282077.2_Missense_Mutation_p.Q367K	NM_002610.3	NP_002601.1	Q15118	PDK1_HUMAN	pyruvate dehydrogenase kinase, isozyme 1	367	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|small GTPase mediated signal transduction	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	p.Q367K(1)		central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.12)			TCTTTACGCACAATACTTCCA	0.378									Autosomal Dominant Polycystic Kidney Disease				4	160					0.150653	0.157827	1	1	0	A	173457705	C	A	173457705	3	1	9	1	0	0	0	0	1	0	0	0	11722	479	17	4	1137	4	PDK1	2	173457705	Missense_Mutation	SNP	C	TCGA-CH-5746-01A-11D-1576-08		173457705	69741668	7	400											
CHPF	79586	broad.mit.edu	37	chr2	220406592	220406592	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggctgaggtggccagttaGgcgtgccaggccgtgcgcct	5	7	17	12	3	0	1	0	1	0	0	0	1	0	1	4	5	2	2	4	5	1	1			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr2:220406592G>T	ENST00000243776.6	-	2	882	c.634C>A	c.(634-636)Cta>Ata	p.L212I	CHPF_ENST00000535926.1_Missense_Mutation_p.L50I|CHPF_ENST00000373891.2_Missense_Mutation_p.L212I	NM_024536.5	NP_078812.2	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	212						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding	p.L212I(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		TGGCCAGTTAGGCGTGCCAGG	0.706											OREG0015229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	30					0.115264	0.123698	1	1	0	T	220406592	G	T	220406592	3	4	9	1	0	0	0	0	1	0	0	0	3390	991	35	4	1705	4	CHPF	2	220406592	Missense_Mutation	SNP	G	TCGA-CH-5746-01A-11D-1576-08	46948887	220406592	22792781	8	401											
PHF15	0	broad.mit.edu	37	chr5	133914476	133914476	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccaccaccaccgcaggacggGcctggttcacggacgactcc	8	4	11	18	4	1	0	1	0	0	0	2	3	2	2	6	4	0	2	6	4	0	1			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr5:133914476G>A	ENST00000395003.1	+	11	2021	c.1842G>A	c.(1840-1842)ggG>ggA	p.G614G	PHF15_ENST00000361895.2_Silent_p.G615G|PHF15_ENST00000282605.4_Silent_p.G658G|PHF15_ENST00000402835.1_3'UTR	NM_015288.4	NP_056103.4	Q9NQC1	JADE2_HUMAN		614	Pro-rich.				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	p.G614G(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CGCAGGACGGGCCTGGTTCAC	0.672													5	48					0	0	1	0	0	A	133914476	G	A	133914476	2	1	9	1	0	0	0	0	0	0	0	1	11874	1190	42	2		2	PHF15	5	133914476	Silent	SNP	G	TCGA-CH-5746-01A-11D-1576-08		133914476	47000784	9	402											
GCM2	9247	broad.mit.edu	37	chr6	10881950	10881950	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacttacctgaggcatctgcGgatcgttgatgtcccagctg	7	11	11	12	2	1	2	0	2	1	0	3	3	2	3	2	2	3	3	2	2	1	2			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr6:10881950G>T	ENST00000379491.4	-	1	224	c.77C>A	c.(76-78)cCg>cAg	p.P26Q	RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	26					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding	p.P26Q(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				AGGCATCTGCGGATCGTTGAT	0.642													3	68					0.115264	0.123698	1	1	0	T	10881950	G	T	10881950	3	4	9	1	0	0	0	0	1	0	0	0	6338	1116	39	4	1463	4	GCM2	6	10881950	Missense_Mutation	SNP	G	TCGA-CH-5746-01A-11D-1576-08		10881950	160233117	10	403											
TBX18	9096	broad.mit.edu	37	chr6	85448257	85448257	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcttcaaaggtcagagtccGtagtgatggtcgccagaatg	11	10	12	8	2	3	3	2	1	1	2	5	3	4	3	2	2	0	1	2	2	3	2			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr6:85448257G>A	ENST00000369663.5	-	7	1394	c.1057C>T	c.(1057-1059)Cgg>Tgg	p.R353W	TBX18_ENST00000606784.1_Missense_Mutation_p.R195W	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	353					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.R353W(2)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		GTCAGAGTCCGTAGTGATGGT	0.468													93	398					0	0	1	0	0	A	85448257	G	A	85448257	3	1	9	1	0	0	0	0	1	0	0	0	15713	1144	40	1	774	1	TBX18	6	85448257	Missense_Mutation	SNP	G	TCGA-CH-5746-01A-11D-1576-08	74566307	85448257	85666810	11	404											
REEP4	80346	broad.mit.edu	37	chr8	21996234	21996235	+	Frame_Shift_Ins	INS	-	-	G																															tcggggccgggctggcgcccINSgggggactgcctcagtatct																										TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr8:21996234_21996235insG	ENST00000306306.3	-	7	1093_1094	c.625_626insC	c.(625-627)ggcfs	p.G209fs	REEP4_ENST00000523293.1_Intron|REEP4_ENST00000334530.5_Frame_Shift_Ins_p.A164fs	NM_025232.2	NP_079508.2	Q9H6H4	REEP4_HUMAN	receptor accessory protein 4	209						integral to membrane				kidney(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	7				Colorectal(74;0.00187)|COAD - Colon adenocarcinoma(73;0.061)|READ - Rectum adenocarcinoma(644;0.0993)		GGCTGGCGCCCGGGGGACTGCC	0.663													11	253	---	---	---	---						G	21996235	-	G	21996234	7	5	9	1	0	1	1	0	0	0	0	0	13259	652	23	0	155	0	REEP4	8	21996234	Frame_Shift_Ins	INS	-	TCGA-CH-5746-01A-11D-1576-08		21996234	124367788	12	405											
DPYSL2	1808	broad.mit.edu	37	chr8	26484737	26484737	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtctctctctcagatttatGaagtactgagtgtgatccgg	8	15	10	8	1	3	4	1	3	2	1	6	4	4	4	1	1	1	1	1	1	3	3			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr8:26484737G>A	ENST00000311151.5	+	6	959	c.547G>A	c.(547-549)Gaa>Aaa	p.E183K	DPYSL2_ENST00000523027.1_Missense_Mutation_p.E147K|DPYSL2_ENST00000521983.1_3'UTR|DPYSL2_ENST00000521913.1_Missense_Mutation_p.E147K	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	183					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding	p.E183K(1)		breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		TCAGATTTATGAAGTACTGAG	0.483													14	55					0	0	1	0	0	A	26484737	G	A	26484737	3	1	9	1	0	0	0	0	1	0	0	0	4773	1291	45	2	569	2	DPYSL2	8	26484737	Missense_Mutation	SNP	G	TCGA-CH-5746-01A-11D-1576-08	4488503	26484737	119879285	13	406											
BRD3	8019	broad.mit.edu	37	chr9	136899859	136899859	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgctgctgctcagctgccCgctgacatcctgcagacgct	5	10	10	16	2	1	2	1	1	0	1	2	2	2	2	2	0	6	7	2	0	0	1			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr9:136899859C>T	ENST00000303407.7	-	11	2214	c.2029G>A	c.(2029-2031)Ggg>Agg	p.G677R	BRD3_ENST00000473349.1_5'UTR	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	677	Ser-rich.					nucleus	protein binding	p.G677R(2)	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)		CTCAGCTGCCCGCTGACATCC	0.617			T	C15orf55	lethal midline carcinoma of young people								4	181					0	0	1	0	0	T	136899859	C	T	136899859	3	4	9	1	0	0	0	0	1	0	0	0	1505	652	23	1	159	1	BRD3	9	136899859	Missense_Mutation	SNP	C	TCGA-CH-5746-01A-11D-1576-08		136899859	4313572	14	407											
PHYH	5264	broad.mit.edu	37	chr10	13330436	13330436	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaccagacagccgttgttcCggctgatgtgctccatcgcc	7	9	10	15	3	0	2	0	1	0	1	3	2	2	2	5	1	3	4	5	1	1	2			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr10:13330436C>T	ENST00000396920.3	-	6	955	c.551G>A	c.(550-552)cGg>cAg	p.R184Q	PHYH_ENST00000396913.2_Missense_Mutation_p.R101Q|PHYH_ENST00000263038.4_Missense_Mutation_p.R201Q			O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase	201					fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding	p.R201Q(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	GCCGTTGTTCCGGCTGATGTG	0.627													3	88					0	0	1	0	0	T	13330436	C	T	13330436	3	4	9	1	0	0	0	0	1	0	0	0	11912	652	23	1	430	1	PHYH	10	13330436	Missense_Mutation	SNP	C	TCGA-CH-5746-01A-11D-1576-08		13330436	122204311	15	408											
YME1L1	10730	broad.mit.edu	37	chr10	27436415	27436415	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acaataggcatttggagaaaCccgcagtgtacagggattga	14	8	12	7	1	0	2	0	1	0	1	0	4	0	3	1	3	2	3	1	3	4	4			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr10:27436415C>T	ENST00000477432.1	-	3	1406	c.351G>A	c.(349-351)ggG>ggA	p.G117G	YME1L1_ENST00000376016.3_Intron|YME1L1_ENST00000375972.3_Intron|YME1L1_ENST00000326799.3_Intron			Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	0					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						TTTGGAGAAACCCGCAGTGTA	0.468													3	69					0	0	1	0	0	T	27436415	C	T	27436415	2	4	9	1	0	0	0	0	0	0	0	1	17547	522	18	2		2	YME1L1	10	27436415	Silent	SNP	C	TCGA-CH-5746-01A-11D-1576-08	14105979	27436415	108098332	16	409											
CNGA4	1262	broad.mit.edu	37	chr11	6261464	6261464	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaaccgctttctccgcgCgccccgcctcttcgaggcct	3	9	10	19	6	2	1	0	1	2	0	4	2	2	1	6	1	1	2	6	1	1	2			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr11:6261464C>T	ENST00000379936.2	+	4	555	c.440C>T	c.(439-441)gCg>gTg	p.A147V	CNGA4_ENST00000533426.1_Intron	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	147					response to stimulus|sensory perception of smell		cAMP binding	p.A147V(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTTCTCCGCGCGCCCCGCCTC	0.587													5	205					0	0	1	0	0	T	6261464	C	T	6261464	3	4	9	1	0	0	0	0	1	0	0	0	3622	768	27	1	454	1	CNGA4	11	6261464	Missense_Mutation	SNP	C	TCGA-CH-5746-01A-11D-1576-08		6261464	128745052	17	410											
SLC2A14	144195	broad.mit.edu	37	chr12	7982567	7982567	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccataaggcagccaccagtgGcagccaacaggttgacaatc	13	5	10	13	0	0	1	0	1	0	0	1	1	0	1	4	3	3	3	4	3	3	2	rs145793375	byFrequency	TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr12:7982567G>A	ENST00000543909.1	-	10	1136	c.377C>T	c.(376-378)gCc>gTc	p.A126V	SLC2A14_ENST00000431042.2_Missense_Mutation_p.A103V|SLC2A14_ENST00000340749.5_Missense_Mutation_p.A103V|SLC2A14_ENST00000535295.1_Missense_Mutation_p.A17V|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000396589.2_Missense_Mutation_p.A126V|SLC2A14_ENST00000542546.1_Missense_Mutation_p.A17V|SLC2A14_ENST00000539924.1_Missense_Mutation_p.A141V			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	126					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity	p.A126V(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		GCCACCAGTGGCAGCCAACAG	0.478													3	69					0	0	1	0	0	A	7982567	G	A	7982567	3	1	9	1	0	0	0	0	1	0	0	0	14598	1203	42	2	1213	2	SLC2A14	12	7982567	Missense_Mutation	SNP	G	TCGA-CH-5746-01A-11D-1576-08		7982567	125869328	18	411											
SLCO1B1	10599	broad.mit.edu	37	chr12	21350054	21350054	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtctttgcatgtgctggaaaCaaatgatgaaaaggatcaaa	16	10	10	5	0	2	2	1	2	1	0	2	4	2	4	0	2	3	2	0	2	5	1			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr12:21350054C>A	ENST00000256958.2	+	8	998	c.902C>A	c.(901-903)aCa>aAa	p.T301K		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	301					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity	p.T301K(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	GTGCTGGAAACAAATGATGAA	0.328													30	122					9.39395e-14	1.18095e-13	1	1	0	A	21350054	C	A	21350054	3	1	9	1	0	0	0	0	1	0	0	0	14778	478	17	4	928	4	SLCO1B1	12	21350054	Missense_Mutation	SNP	C	TCGA-CH-5746-01A-11D-1576-08	13367487	21350054	112501841	19	412											
CLMN	79789	broad.mit.edu	37	chr14	95670748	95670748	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagaaggagtttctttgatgCgaacaaaagtggattcgata	14	11	11	5	2	1	2	0	1	1	1	2	6	1	4	0	2	2	1	0	2	5	4	rs145924471		TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr14:95670748C>T	ENST00000298912.4	-	9	1051	c.938G>A	c.(937-939)cGc>cAc	p.R313H		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	313						integral to membrane	actin binding	p.R313H(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		TTCTTTGATGCGAACAAAAGT	0.373													4	174					0	0	1	0	0	T	95670748	C	T	95670748	3	4	9	1	0	0	0	0	1	0	0	0	3565	768	27	1	2090	1	CLMN	14	95670748	Missense_Mutation	SNP	C	TCGA-CH-5746-01A-11D-1576-08		95670748	11678792	20	413											
NOX5	79400	broad.mit.edu	37	chr15	69348910	69348910	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccccactgactccaggtgttCcagaaagtggctgctgagaa	10	8	11	12	0	0	3	0	2	0	2	2	4	2	3	4	2	1	3	4	2	2	1			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr15:69348910C>A	ENST00000260364.5	+	17	2419	c.2118C>A	c.(2116-2118)ttC>ttA	p.F706L	NOX5_ENST00000455873.3_Missense_Mutation_p.F689L|NOX5_ENST00000530406.2_Missense_Mutation_p.F696L|NOX5_ENST00000448182.3_Missense_Mutation_p.F678L|NOX5_ENST00000388866.3_Missense_Mutation_p.F724L			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	724					angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity	p.F706L(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						TCCAGGTGTTCCAGAAAGTGG	0.557													26	145					1.22384e-17	1.58379e-17	1	1	0	A	69348910	C	A	69348910	3	1	9	1	0	0	0	0	1	0	0	0	10606	854	30	4	2267	4	NOX5	15	69348910	Missense_Mutation	SNP	C	TCGA-CH-5746-01A-11D-1576-08		69348910	33182482	21	414											
C16orf62	57020	broad.mit.edu	37	chr16	19661780	19661780	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagacagctgcatttgtccGggtatgttcttaagataagg	12	12	11	6	1	1	2	0	0	1	2	2	2	2	2	1	2	2	4	1	2	4	5			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr16:19661780G>A	ENST00000438132.3	+	25	2420	c.2373_splice	c.e25+1	p.R791_splice	C16orf62_ENST00000251143.5_Splice_Site_p.R702_splice|C16orf62_ENST00000448695.1_Splice_Site_p.R552_splice|C16orf62_ENST00000543152.1_Splice_Site_p.R451_splice|C16orf62_ENST00000544275.1_3'UTR|C16orf62_ENST00000542263.1_Intron|C16orf62_ENST00000417362.2_Intron	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	702						integral to membrane		p.R702Q(1)|p.R791Q(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						GCATTTGTCCGGGTATGTTCT	0.378													4	186					0	0	1	0	0	A	19661780	G	A	19661780	5	1	9	1	0	0	0	0	0	0	1	0	1832	1130	39	1	2203	1	C16orf62	16	19661780	Splice_Site	SNP	G	TCGA-CH-5746-01A-11D-1576-08		19661780	70692973	22	415											
LRRC36	55282	broad.mit.edu	37	chr16	67375899	67375899	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	attgcagggatcttatgctgGcaaaatccattccattggtg	10	13	10	8	0	1	0	0	0	1	0	3	1	3	1	2	3	2	3	2	3	3	4			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr16:67375899G>A	ENST00000329956.6	+	2	129	c.110G>A	c.(109-111)gGc>gAc	p.G37D	LRRC36_ENST00000563303.1_Intron	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	37								p.G37D(1)		endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		TCTTATGCTGGCAAAATCCAT	0.378													4	159					0	0	1	0	0	A	67375899	G	A	67375899	3	1	9	1	0	0	0	0	1	0	0	0	9035	1203	42	2	116	2	LRRC36	16	67375899	Missense_Mutation	SNP	G	TCGA-CH-5746-01A-11D-1576-08	47714119	67375899	22978854	23	416											
TTC25	83538	broad.mit.edu	37	chr17	40104559	40104560	+	RNA	INS	-	-	A																															gaggccctgaccctcactccINSaaaaaaaaaaaaaaaaaaaa																								rs61095073		TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr17:40104559_40104560insA	ENST00000591658.1	+	0	1213							Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25							cytoplasm	protein binding			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				accctcactccaaaaaaaaaaa	0.416													8	35	---	---	---	---						A	40104560	-	A	40104559	6	5	9	0	1	1	1	0	0	0	0	0	16755	609	21	0		0	TTC25	17	40104559	RNA	INS	-	TCGA-CH-5746-01A-11D-1576-08		40104559	41090651	24	417											
PRKCSH	5589	broad.mit.edu	37	chr19	11558391	11558391	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagaagaggctgaagaagaGgaggaggaggaggattccga	16	3	19	3	1	0	5	0	1	0	4	1	12	1	10	1	6	0	1	1	6	4	1			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr19:11558391G>A	ENST00000252455.2	+	11	1323	c.987G>A	c.(985-987)gaG>gaA	p.E329E	PRKCSH_ENST00000587327.1_Silent_p.E329E|PRKCSH_ENST00000591462.1_Silent_p.E329E|PRKCSH_ENST00000592741.1_Silent_p.E329E|PRKCSH_ENST00000412601.1_Silent_p.E329E|PRKCSH_ENST00000589838.1_Silent_p.E329E	NM_002743.2	NP_002734.2	P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	329	Glu-rich (acidic).				innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding	p.E329E(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						ctgaagaagaggaggaggagg	0.632													3	11					0	0	1	0	0	A	11558391	G	A	11558391	2	1	9	1	0	0	0	0	0	0	0	1	12568	991	35	2		2	PRKCSH	19	11558391	Silent	SNP	G	TCGA-CH-5746-01A-11D-1576-08		11558391	47570592	25	418											
HRC	3270	broad.mit.edu	37	chr19	49656664	49656664	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caccagcccaggccacttacCtgtgtcctcaccgctttcct	6	10	6	19	1	1	0	1	0	0	0	3	0	3	0	7	1	2	1	7	1	1	2			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr19:49656664C>A	ENST00000252825.4	-	1	2017	c.1831_splice	c.e1+1	p.G611_splice	HRC_ENST00000595625.1_Splice_Site_p.G611_splice	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	611					muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	p.G611C(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		GGCCACTTACCTGTGTCCTCA	0.632													3	72					1	1	1	1	0	A	49656664	C	A	49656664	5	1	9	1	0	0	0	0	0	0	1	0	7393	695	24	4	292	4	HRC	19	49656664	Splice_Site	SNP	C	TCGA-CH-5746-01A-11D-1576-08	38098273	49656664	9472319	26	419											
NCAM2	4685	broad.mit.edu	37	chr21	22849736	22849736	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agctgccaatagattgggatAttctgaaccgacagtttatg	12	12	10	7	1	1	2	0	1	1	1	1	4	1	3	2	1	3	2	2	1	5	6			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr21:22849736A>G	ENST00000400546.1	+	15	2270	c.2021A>G	c.(2020-2022)tAt>tGt	p.Y674C	NCAM2_ENST00000284894.7_Missense_Mutation_p.Y532C	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	674	Fibronectin type-III 2.				neuron cell-cell adhesion	integral to membrane|plasma membrane		p.Y674C(1)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		AGATTGGGATATTCTGAACCG	0.368													21	129					0	0	1	0	0	G	22849736	A	G	22849736	3	3	9	1	0	0	0	0	1	0	0	0	10250	449	16	3	2079	3	NCAM2	21	22849736	Missense_Mutation	SNP	A	TCGA-CH-5746-01A-11D-1576-08		22849736	25280159	27	420											
GGT5	2687	broad.mit.edu	37	chr22	24622217	24622217	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgggccagggtctcccccagCaggtcccgggaggcattctg	5	7	15	14	1	2	0	0	0	2	0	4	1	3	1	4	5	1	2	4	5	0	1			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chr22:24622217C>A	ENST00000327365.4	-	8	1472	c.1056G>T	c.(1054-1056)ctG>ctT	p.L352L	GGT5_ENST00000418439.2_Silent_p.L275L|GGT5_ENST00000263112.7_Silent_p.L320L|GGT5_ENST00000398292.3_Silent_p.L352L	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	352					glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity	p.L352L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						TCTCCCCCAGCAGGTCCCGGG	0.682													3	52					1	1	1	1	0	A	24622217	C	A	24622217	2	1	9	1	0	0	0	0	0	0	0	1	6404	697	25	4		4	GGT5	22	24622217	Silent	SNP	C	TCGA-CH-5746-01A-11D-1576-08		24622217	26682349	28	421											
ACTRT1	139741	broad.mit.edu	37	chrX	127185764	127185764	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggcatagagcgctgccaccGcatgattagacaggtagaaa	14	6	12	9	2	0	4	0	1	0	3	0	4	0	4	2	2	2	4	2	2	4	3			TCGA-CH-5746-01A-11D-1576-08	TCGA-CH-5746-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96a30919-cafe-43b9-9f46-226a8a38d246	040ca048-b608-4268-968c-2d436e9293cd	g.chrX:127185764G>A	ENST00000371124.3	-	1	618	c.422C>T	c.(421-423)gCg>gTg	p.A141V		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	141						cytoplasm|cytoskeleton		p.A141V(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						CGCTGCCACCGCATGATTAGA	0.522													5	266					0	0	1	0	0	A	127185764	G	A	127185764	3	1	9	1	0	0	0	0	1	0	0	0	217	1087	38	1	712	1	ACTRT1	23	127185764	Missense_Mutation	SNP	G	TCGA-CH-5746-01A-11D-1576-08		127185764	28084796	29	422											
TXLNA	200081	broad.mit.edu	37	chr1	32657918	32657918	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	catctttgttgcagcatatcGacaaagtcttcaaacacaag	14	11	6	10	1	3	0	1	0	2	0	4	1	3	0	0	0	3	3	0	0	4	4			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr1:32657918G>C	ENST00000373609.1	+	6	1251	c.970G>C	c.(970-972)Gac>Cac	p.D324H	TXLNA_ENST00000373610.3_Missense_Mutation_p.D324H			P40222	TXLNA_HUMAN	taxilin alpha	324					cell proliferation|exocytosis	cytoplasm|extracellular region	cytokine activity|high molecular weight B cell growth factor receptor binding	p.D324H(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GCAGCATATCGACAAAGTCTT	0.587													12	128					0	0	1	0	0	C	32657918	G	C	32657918	3	2	10	1	0	0	0	0	1	0	0	0	16849	1058	37	4	992	4	TXLNA	1	32657918	Missense_Mutation	SNP	G	TCGA-CH-5748-01A-11D-1576-08		32657918	216592703	1	423											
MAST2	23139	broad.mit.edu	37	chr1	46493536	46493539	+	Splice_Site	DEL	GTAA	GTAA	-																															gggaattcctggacaagcagGtaaggaagggtagttgatac																										TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr1:46493536_46493539delGTAA	ENST00000361297.2	+	17	2335		c.e17+1		MAST2_ENST00000372008.1_Splice_Site|MAST2_ENST00000372009.2_Splice_Site	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2						regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GGACAAGCAGGTAAGGAAGGGTAG	0.515													9	114	---	---	---	---						-	46493539	GTAA	-	46493536	8	5	10	1	0	1	0	1	0	0	1	0	9375	1275	44	0	2119	0	MAST2	1	46493536	Splice_Site	DEL	GTAA	TCGA-CH-5748-01A-11D-1576-08	13835618	46493536	202757085	2	424											
TMEM61	199964	broad.mit.edu	37	chr1	55457539	55457539	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggttgacatccccacttaCgaggaagccgtgagcttccc	8	9	11	13	2	0	2	0	2	0	0	2	4	2	3	4	2	3	2	4	2	2	3			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr1:55457539C>T	ENST00000371268.3	+	3	670	c.396C>T	c.(394-396)taC>taT	p.Y132Y	RP11-12C17.2_ENST00000436960.1_RNA	NM_182532.1	NP_872338.1	Q8N0U2	TMM61_HUMAN	transmembrane protein 61	132						integral to membrane		p.Y132Y(1)		endometrium(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	4						TCCCCACTTACGAGGAAGCCG	0.627													10	140					0	0	1	0	0	T	55457539	C	T	55457539	2	4	10	1	0	0	0	0	0	0	0	1	16248	547	19	1		1	TMEM61	1	55457539	Silent	SNP	C	TCGA-CH-5748-01A-11D-1576-08	8964003	55457539	193793082	3	425											
CACHD1	57685	broad.mit.edu	37	chr1	65147750	65147750	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacagtccagaaagaaggCgccgctactggggtcgatca	12	5	12	12	3	1	2	1	0	0	2	3	3	2	2	2	3	1	1	2	3	3	1			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr1:65147750C>T	ENST00000371073.2	+	26	3547	c.3547C>T	c.(3547-3549)Cgc>Tgc	p.R1183C	CACHD1_ENST00000290039.5_Missense_Mutation_p.R1132C|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	1183					calcium ion transport	integral to membrane		p.R1132C(2)		breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						AGAAAGAAGGCGCCGCTACTG	0.493													4	59					0	0	1	0	0	T	65147750	C	T	65147750	3	4	10	1	0	0	0	0	1	0	0	0	2555	768	27	1	3496	1	CACHD1	1	65147750	Missense_Mutation	SNP	C	TCGA-CH-5748-01A-11D-1576-08	9690211	65147750	184102871	4	426											
DEPDC1	55635	broad.mit.edu	37	chr1	68948183	68948183	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgaaagacactggatgcCtctttacttgaattccctgg	10	13	9	9	0	1	4	0	3	1	1	2	5	2	5	2	2	2	0	2	2	3	4			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr1:68948183C>G	ENST00000456315.2	-	8	1422	c.1308G>C	c.(1306-1308)gaG>gaC	p.E436D	RP4-694A7.2_ENST00000425820.1_RNA|DEPDC1_ENST00000370966.5_Intron	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	436					intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding	p.E436D(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		CACTGGATGCCTCTTTACTTG	0.373													9	227					0	0	1	0	0	G	68948183	C	G	68948183	3	3	10	1	0	0	0	0	1	0	0	0	4467	680	24	4	1147	4	DEPDC1	1	68948183	Missense_Mutation	SNP	C	TCGA-CH-5748-01A-11D-1576-08	3800433	68948183	180302438	5	427											
CA14	23632	broad.mit.edu	37	chr1	150235768	150235768	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gcttctggtacagaactaccGagcccttcagcctctcaatc	9	10	7	15	1	3	1	2	0	2	1	5	2	3	1	3	1	5	2	3	1	4	4			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr1:150235768G>C	ENST00000369111.4	+	8	1761	c.791G>C	c.(790-792)cGa>cCa	p.R264P		NM_012113.1	NP_036245.1	Q9ULX7	CAH14_HUMAN	carbonic anhydrase XIV	264						integral to membrane	carbonate dehydratase activity|metal ion binding	p.R264P(1)		central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	18	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGAACTACCGAGCCCTTCAG	0.522													11	112					0	0	1	0	0	C	150235768	G	C	150235768	3	2	10	1	0	0	0	0	1	0	0	0	2533	1058	37	4	821	4	CA14	1	150235768	Missense_Mutation	SNP	G	TCGA-CH-5748-01A-11D-1576-08	81287585	150235768	99014853	6	428											
CACNA1E	777	broad.mit.edu	37	chr1	181724376	181724376	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttgctctgtccacaggccGtcttcgactgcgtagtgacc	5	12	11	13	3	2	1	0	1	2	0	4	2	3	1	3	1	2	3	3	1	1	3			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr1:181724376G>A	ENST00000526775.1	+	27	3940	c.3775G>A	c.(3775-3777)Gtc>Atc	p.V1259I	CACNA1E_ENST00000367570.1_Missense_Mutation_p.V1278I|CACNA1E_ENST00000360108.3_Missense_Mutation_p.V1259I|CACNA1E_ENST00000367567.4_Missense_Mutation_p.V885I|CACNA1E_ENST00000367573.2_Missense_Mutation_p.V1278I|CACNA1E_ENST00000357570.5_Missense_Mutation_p.V1229I|CACNA1E_ENST00000358338.5_Missense_Mutation_p.V1210I	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1278					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.V1278I(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TCCACAGGCCGTCTTCGACTG	0.517													4	90					0	0	1	0	0	A	181724376	G	A	181724376	3	1	10	1	0	0	0	0	1	0	0	0	2560	1145	40	1	3942	1	CACNA1E	1	181724376	Missense_Mutation	SNP	G	TCGA-CH-5748-01A-11D-1576-08	31488608	181724376	67526245	7	429											
TMEFF2	23671	broad.mit.edu	37	chr2	193056699	193056699	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcacagaggaagagatcattTtctctgtcatcataacctca	13	12	6	10	0	6	2	5	0	1	2	7	4	6	3	1	1	1	0	1	1	2	3			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr2:193056699T>C	ENST00000409056.3	-	2	188	c.189A>G	c.(187-189)gaA>gaG	p.E63E	TMEFF2_ENST00000392314.1_Silent_p.E63E|TMEFF2_ENST00000272771.5_Silent_p.E63E			Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	63				E -> G (in Ref. 6; BAC11030).		extracellular region|integral to membrane		p.E63E(1)		breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			AGAGATCATTTTCTCTGTCAT	0.348													7	58					0	0	1	0	0	C	193056699	T	C	193056699	2	2	10	1	0	0	0	0	0	0	0	1	16074	1838	64	3		3	TMEFF2	2	193056699	Silent	SNP	T	TCGA-CH-5748-01A-11D-1576-08		193056699	50142674	8	430											
C3orf38	285237	broad.mit.edu	37	chr3	88202584	88202584	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attgaaggaaacgccagagcCagttacaaagacagaggaca	18	4	11	8	1	0	4	0	1	0	3	0	6	0	6	2	2	3	1	2	2	4	2			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr3:88202584C>T	ENST00000318887.3	+	2	648	c.338C>T	c.(337-339)cCa>cTa	p.P113L	C3orf38_ENST00000486971.1_Missense_Mutation_p.P113L	NM_173824.3	NP_776185.2	Q5JPI3	CC038_HUMAN	chromosome 3 open reading frame 38	113					apoptosis			p.P111L(1)|p.P113L(1)		breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		ACGCCAGAGCCAGTTACAAAG	0.368													5	71					0	0	1	0	0	T	88202584	C	T	88202584	3	4	10	1	0	0	0	0	1	0	0	0	2242	594	21	2	344	2	C3orf38	3	88202584	Missense_Mutation	SNP	C	TCGA-CH-5748-01A-11D-1576-08		88202584	109819846	9	431											
SH3TC1	54436	broad.mit.edu	37	chr4	8235132	8235132	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tacaccaaacgaagtctgggGattttcattgacctccagaa	13	10	8	10	1	2	2	1	1	1	1	3	4	3	3	3	2	2	0	3	2	4	4			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr4:8235132G>A	ENST00000539824.1	+	14	3320	c.2946G>A	c.(2944-2946)ggG>ggA	p.G982G	SH3TC1_ENST00000245105.3_Silent_p.G1058G			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	1058							binding	p.G1058G(1)		NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						GAAGTCTGGGGATTTTCATTG	0.537													6	34					0	0	1	0	0	A	8235132	G	A	8235132	2	1	10	1	0	0	0	0	0	0	0	1	14316	1161	41	2		2	SH3TC1	4	8235132	Silent	SNP	G	TCGA-CH-5748-01A-11D-1576-08		8235132	182919144	10	432											
CWH43	80157	broad.mit.edu	37	chr4	48994016	48994016	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttgttctacgcatatggtaTacttcactaaacccaatctg	11	14	6	10	1	3	0	1	0	2	0	3	0	3	0	1	1	3	4	1	1	7	8			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr4:48994016T>C	ENST00000226432.4	+	4	603	c.420T>C	c.(418-420)taT>taC	p.Y140Y	CWH43_ENST00000513409.1_Silent_p.Y113Y	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	140					GPI anchor biosynthetic process	integral to membrane		p.Y140Y(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						GCATATGGTATACTTCACTAA	0.368													13	111					0	0	1	0	0	C	48994016	T	C	48994016	2	2	10	1	0	0	0	0	0	0	0	1	4096	1413	49	3		3	CWH43	4	48994016	Silent	SNP	T	TCGA-CH-5748-01A-11D-1576-08	40758884	48994016	142160260	11	433											
PCDH18	54510	broad.mit.edu	37	chr4	138451489	138451489	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggaatggtgatttctgccGtattattacgcaatgcaggc	9	13	12	7	2	1	1	0	1	1	0	1	2	1	2	1	3	3	3	1	3	5	4			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr4:138451489G>A	ENST00000344876.4	-	1	2140	c.1754C>T	c.(1753-1755)aCg>aTg	p.T585M	PCDH18_ENST00000412923.2_Missense_Mutation_p.T585M|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.T365M	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	585	Cadherin 6.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T585M(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GATTTCTGCCGTATTATTACG	0.468													9	425					0	0	1	0	0	A	138451489	G	A	138451489	3	1	10	1	0	0	0	0	1	0	0	0	11560	1145	40	1	1669	1	PCDH18	4	138451489	Missense_Mutation	SNP	G	TCGA-CH-5748-01A-11D-1576-08	89457473	138451489	52702787	12	434											
SNX18	112574	broad.mit.edu	37	chr5	53814839	53814839	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacttcatctctaagcgcAggaagggcctgatctggtgg	9	9	14	9	1	3	1	1	1	2	0	4	3	3	3	1	5	1	1	1	5	2	2			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr5:53814839A>T	ENST00000343017.6	+	1	1251	c.1057A>T	c.(1057-1059)Agg>Tgg	p.R353W	SNX18_ENST00000326277.3_Missense_Mutation_p.R353W|SNX18_ENST00000381410.4_Missense_Mutation_p.R353W	NM_001145427.1	NP_001138899.1	Q96RF0	SNX18_HUMAN	sorting nexin 18	353	PX.				cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding	p.R353W(3)		endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				CTCTAAGCGCAGGAAGGGCCT	0.652													7	64					0	0	1	0	0	T	53814839	A	T	53814839	3	4	10	1	0	0	0	0	1	0	0	0	14943	179	7	5	1059	5	SNX18	5	53814839	Missense_Mutation	SNP	A	TCGA-CH-5748-01A-11D-1576-08		53814839	127100421	13	435											
TTC37	9652	broad.mit.edu	37	chr5	94857934	94857934	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tcaaggctgttgtgtagcctCctctgcttaagtatgcttct	6	16	9	10	0	3	0	1	0	2	0	4	0	4	0	2	1	3	6	2	1	4	5			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr5:94857934C>G	ENST00000358746.2	-	19	2133	c.1835G>C	c.(1834-1836)gGa>gCa	p.G612A		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	612							binding	p.G612A(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						TGTGTAGCCTCCTCTGCTTAA	0.413													19	137					0	0	1	0	0	G	94857934	C	G	94857934	3	3	10	1	0	0	0	0	1	0	0	0	16767	855	30	4	2959	4	TTC37	5	94857934	Missense_Mutation	SNP	C	TCGA-CH-5748-01A-11D-1576-08	41043095	94857934	86057326	14	436											
SLC25A2	83884	broad.mit.edu	37	chr5	140682861	140682861	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaacgatcggctcagttcaTagccaccaaagaaaaagaaa	20	5	7	9	2	2	2	2	0	0	2	3	3	2	2	2	1	2	2	2	1	7	2			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr5:140682861T>C	ENST00000239451.4	-	1	751	c.572A>G	c.(571-573)tAt>tGt	p.Y191C		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	191					mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity	p.Y191C(1)		breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	GCTCAGTTCATAGCCACCAAA	0.458													12	122					0	0	1	0	0	C	140682861	T	C	140682861	3	2	10	1	0	0	0	0	1	0	0	0	14537	1406	49	3	337	3	SLC25A2	5	140682861	Missense_Mutation	SNP	T	TCGA-CH-5748-01A-11D-1576-08	45824927	140682861	40232399	15	437											
EYS	346007	broad.mit.edu	37	chr6	66205253	66205253	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catgtttttccatttatgaaAgagctgtgaaaaaccatcag	14	13	7	7	0	1	3	1	2	0	1	2	3	2	3	2	0	2	2	2	0	4	4			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr6:66205253A>T	ENST00000503581.1	-	4	588	c.51T>A	c.(49-51)tcT>tcA	p.S17S	EYS_ENST00000342421.5_Silent_p.S17S|EYS_ENST00000370618.3_Silent_p.S17S|EYS_ENST00000393380.2_Silent_p.S17S|EYS_ENST00000370616.2_Silent_p.S17S|EYS_ENST00000370621.3_Silent_p.S17S	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	17					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CATTTATGAAAGAGCTGTGAA	0.378													16	95					0	0	1	0	0	T	66205253	A	T	66205253	2	4	10	1	0	0	0	0	0	0	0	1	5360	59	3	5		5	EYS	6	66205253	Silent	SNP	A	TCGA-CH-5748-01A-11D-1576-08		66205253	104909814	16	438											
HTR1E	3354	broad.mit.edu	37	chr6	87725481	87725481	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aagagggccgcgctgatgatCcttaccgtctggaccatctc	8	9	11	13	3	2	3	0	2	2	1	4	4	3	4	4	2	1	1	4	2	2	1			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr6:87725481C>A	ENST00000305344.4	+	2	1132	c.429C>A	c.(427-429)atC>atA	p.I143I	HTR1E_ENST00000369584.1_Silent_p.I143I	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	143					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	p.I143I(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	CGCTGATGATCCTTACCGTCT	0.582													12	83					7.03913e-09	7.03913e-09	1	1	0	A	87725481	C	A	87725481	2	1	10	1	0	0	0	0	0	0	0	1	7483	845	30	4		4	HTR1E	6	87725481	Silent	SNP	C	TCGA-CH-5748-01A-11D-1576-08	21520228	87725481	83389586	17	439											
MUC17	140453	broad.mit.edu	37	chr7	100675944	100675944	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggctagcaccacttcaacaaTtcctgttgactccaaaactt	12	11	5	13	0	1	1	1	1	0	0	3	1	3	1	3	1	3	3	3	1	5	5			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr7:100675944T>A	ENST00000306151.4	+	3	1311	c.1247T>A	c.(1246-1248)aTt>aAt	p.I416N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	416	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.I416N(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACTTCAACAATTCCTGTTGAC	0.458													7	276					0	0	1	0	0	A	100675944	T	A	100675944	3	1	10	1	0	0	0	0	1	0	0	0	10022	1493	52	5	1257	5	MUC17	7	100675944	Missense_Mutation	SNP	T	TCGA-CH-5748-01A-11D-1576-08		100675944	58462719	18	440											
SCARA5	286133	broad.mit.edu	37	chr8	27762295	27762295	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccagcagaatgtccttacTggcatccccagctctgtctc	7	10	7	17	0	2	1	0	0	2	1	5	1	4	1	5	1	3	3	5	1	2	1			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr8:27762295T>G	ENST00000524352.1	-	7	1535	c.1153A>C	c.(1153-1155)Agt>Cgt	p.S385R	SCARA5_ENST00000518030.1_Missense_Mutation_p.S342R|SCARA5_ENST00000380385.2_Splice_Site_p.S160_splice|SCARA5_ENST00000301906.4_Missense_Mutation_p.S342R|RP11-597M17.1_ENST00000517735.1_RNA|SCARA5_ENST00000354914.3_Splice_Site_p.S385_splice			Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5 (putative)	385					cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity	p.S385R(1)		central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		ATGTCCTTACTGGCATCCCCA	0.532													6	51					0	0	1	0	0	G	27762295	T	G	27762295	3	3	10	1	0	0	0	0	1	0	0	0	13933	1594	55	5	346	5	SCARA5	8	27762295	Missense_Mutation	SNP	T	TCGA-CH-5748-01A-11D-1576-08		27762295	118601727	19	441											
PRKDC	5591	broad.mit.edu	37	chr8	48811034	48811034	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aagcaagatcacctaccgcgGcaaacgtcgtttctttgctt	10	11	8	12	4	2	1	1	0	1	1	3	1	2	1	2	1	4	4	2	1	4	4			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr8:48811034G>A	ENST00000314191.2	-	29	3516	c.3460C>T	c.(3460-3462)Ccg>Tcg	p.P1154S	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.P1154S	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1154					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	p.P1154S(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				ACCTACCGCGGCAAACGTCGT	0.403								Non-homologous end-joining					3	7					0	0	1	0	0	A	48811034	G	A	48811034	3	1	10	1	0	0	0	0	1	0	0	0	12573	1203	42	2	9157	2	PRKDC	8	48811034	Missense_Mutation	SNP	G	TCGA-CH-5748-01A-11D-1576-08	21048739	48811034	97552988	20	442											
ZNF658	26149	broad.mit.edu	37	chr9	40772246	40772246	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaattctctggtgtactCtgagagttgaattttgggca	8	16	12	5	0	2	3	0	3	2	1	3	4	2	3	0	2	1	3	0	2	3	5			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr9:40772246C>A	ENST00000602553.1	-	5	3323	c.3029G>T	c.(3028-3030)aGa>aTa	p.R1010I	ZNF658_ENST00000441795.1_Intron|ZNF658_ENST00000377626.3_Missense_Mutation_p.R1010I			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	1010					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R1010I(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CTGGTGTACTCTGAGAGTTGA	0.443													33	146					4.31865e-32	4.38408e-32	1	1	0	A	40772246	C	A	40772246	3	1	10	1	0	0	0	0	1	0	0	0	18126	913	32	4	154	4	ZNF658	9	40772246	Missense_Mutation	SNP	C	TCGA-CH-5748-01A-11D-1576-08		40772246	100441185	21	443											
PCSK5	5125	broad.mit.edu	37	chr9	78790136	78790136	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaatggaatggaatggaaTgaaatggaatggaatgaaat	19	8	13	1	0	0	3	0	2	0	1	0	8	0	8	0	5	0	0	0	5	8	0	rs62556589		TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr9:78790136T>C	ENST00000376767.3	+	14	2503	c.1991T>C	c.(1990-1992)aTg>aCg	p.M664T	PCSK5_ENST00000545128.1_Intron|PCSK5_ENST00000376752.4_Intron			Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	0	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						tggaatggaatgaaatggaat	0.423													5	27					0	0	1	0	0	C	78790136	T	C	78790136	3	2	10	1	0	0	0	0	1	0	0	0	11650	1479	51	3		3	PCSK5	9	78790136	Missense_Mutation	SNP	T	TCGA-CH-5748-01A-11D-1576-08	38017890	78790136	62423295	22	444											
ROR2	4920	broad.mit.edu	37	chr9	94495690	94495690	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagcactggtccgacaggtgCgtagacgtgccgatcatggt	8	8	15	10	4	1	1	1	0	0	1	2	4	2	1	2	3	3	2	2	3	1	1			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr9:94495690C>T	ENST00000375708.3	-	6	849	c.651G>A	c.(649-651)acG>acA	p.T217T	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Silent_p.T77T	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	217	FZ.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	p.T217T(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CCGACAGGTGCGTAGACGTGC	0.647													3	34					0	0	1	0	0	T	94495690	C	T	94495690	2	4	10	1	0	0	0	0	0	0	0	1	13579	755	27	1		1	ROR2	9	94495690	Silent	SNP	C	TCGA-CH-5748-01A-11D-1576-08	15705554	94495690	46717741	23	445											
DBC1	0	broad.mit.edu	37	chr9	121971070	121971070	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaaagcttgcgggcagtgcGttggatcttttgtctctgtg	6	14	14	7	2	2	0	0	0	2	0	3	2	2	1	0	2	3	3	0	2	2	4			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr9:121971070G>A	ENST00000265922.3	-	7	1533	c.1072C>T	c.(1072-1074)Cgc>Tgc	p.R358C	DBC1_ENST00000482797.1_5'UTR	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		358			R -> H (common polymorphism; dbSNP:rs17476783).		cell cycle arrest|cell death	cytoplasm	protein binding	p.R358C(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						CGGGCAGTGCGTTGGATCTTT	0.577													7	87					0	0	1	0	0	A	121971070	G	A	121971070	3	1	10	1	0	0	0	0	1	0	0	0	4271	1145	40	1	1221	1	DBC1	9	121971070	Missense_Mutation	SNP	G	TCGA-CH-5748-01A-11D-1576-08	27475380	121971070	19242361	24	446											
RNLS	55328	broad.mit.edu	37	chr10	90342915	90342915	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagcgcacaagcttcctgtCatcccggcgcccacgatcag	8	6	10	17	4	2	0	2	0	0	0	4	1	4	0	3	1	2	3	3	1	1	1			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr10:90342915C>T	ENST00000371947.3	-	1	1372	c.33G>A	c.(31-33)atG>atA	p.M11I	RNLS_ENST00000437752.1_Missense_Mutation_p.M11I|RNLS_ENST00000466945.1_5'UTR|RNLS_ENST00000331772.4_Missense_Mutation_p.M11I	NM_018363.3	NP_060833.1	Q5VYX0	RNLS_HUMAN	renalase, FAD-dependent amine oxidase	11						extracellular region	oxidoreductase activity	p.M11I(1)		breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						AGCTTCCTGTCATCCCGGCGC	0.647											OREG0020353	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	75					0	0	1	0	0	T	90342915	C	T	90342915	3	4	10	1	0	0	0	0	1	0	0	0	13557	826	29	2	1099	2	RNLS	10	90342915	Missense_Mutation	SNP	C	TCGA-CH-5748-01A-11D-1576-08		90342915	45191832	25	447											
SYCE1	93426	broad.mit.edu	37	chr10	135369308	135369308	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggctgcagcctcctggctgCggagaaagagtccctcatca	8	8	12	13	1	2	2	2	0	0	2	4	3	4	2	3	3	3	3	3	3	1	0	rs150742469		TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr10:135369308C>T	ENST00000368517.3	-	10	725	c.587G>A	c.(586-588)cGc>cAc	p.R196H	SPRN_ENST00000541506.1_Intron|SYCE1_ENST00000343131.5_Missense_Mutation_p.R232H|SYCE1_ENST00000432597.2_Missense_Mutation_p.R196H	NM_130784.2	NP_570140.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	232					cell division	central element		p.R232H(2)|p.R196H(2)		breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		CTCCTGGCTGCGGAGAAAGAG	0.642													6	105					0	0	1	0	0	T	135369308	C	T	135369308	3	4	10	1	0	0	0	0	1	0	0	0	15484	768	27	1	419	1	SYCE1	10	135369308	Missense_Mutation	SNP	C	TCGA-CH-5748-01A-11D-1576-08	45026393	135369308	165439	26	448											
NUP98	4928	broad.mit.edu	37	chr11	3721914	3721914	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaatgacagcaactcccagaTtggggacaatgagaggacac	15	5	12	9	0	0	3	0	2	0	2	1	7	1	5	1	3	2	1	1	3	3	1			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr11:3721914T>C	ENST00000324932.7	-	24	4088	c.3668A>G	c.(3667-3669)aAt>aGt	p.N1223S	NUP98_ENST00000359171.4_Missense_Mutation_p.N1223S|NUP98_ENST00000355260.3_Missense_Mutation_p.N1223S	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1240					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity	p.N1223S(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		AACTCCCAGATTGGGGACAAT	0.418			T	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"	AML								5	94					0	0	1	0	0	C	3721914	T	C	3721914	3	2	10	1	0	0	0	0	1	0	0	0	10821	1493	52	3	1774	3	NUP98	11	3721914	Missense_Mutation	SNP	T	TCGA-CH-5748-01A-11D-1576-08		3721914	131284602	27	449											
NAV2	89797	broad.mit.edu	37	chr11	19955124	19955124	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagcgaggagctggaggccgCcagtcgcatgctcaccaccg	8	4	15	14	4	1	0	1	0	0	0	2	4	1	2	4	3	3	3	4	3	0	0			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr11:19955124C>G	ENST00000396085.1	+	7	1695	c.1334C>G	c.(1333-1335)gCc>gGc	p.A445G	NAV2_ENST00000396087.3_Missense_Mutation_p.A468G|NAV2_ENST00000527559.2_Missense_Mutation_p.A397G|NAV2_ENST00000360655.4_Missense_Mutation_p.A381G|NAV2_ENST00000540292.1_Missense_Mutation_p.A399G|NAV2_ENST00000349880.4_Missense_Mutation_p.A445G	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	468						nucleus	ATP binding|helicase activity	p.A468G(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CTGGAGGCCGCCAGTCGCATG	0.647													4	60					0	0	1	0	0	G	19955124	C	G	19955124	3	3	10	1	0	0	0	0	1	0	0	0	10232	739	26	4	1439	4	NAV2	11	19955124	Missense_Mutation	SNP	C	TCGA-CH-5748-01A-11D-1576-08	16233210	19955124	115051392	28	450											
OR4D9	390199	broad.mit.edu	37	chr11	59282922	59282922	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttcttgacactttctactgCgatgtcccccaggtcctcaa	7	13	7	14	1	3	1	1	1	2	0	5	2	5	1	3	1	2	1	3	1	2	4	rs145873782		TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr11:59282922C>T	ENST00000329328.3	+	1	537	c.537C>T	c.(535-537)tgC>tgT	p.C179C		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C179C(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						CTTTCTACTGCGATGTCCCCC	0.493													10	200					0	0	1	0	0	T	59282922	C	T	59282922	2	4	10	1	0	0	0	0	0	0	0	1	11107	776	27	1		1	OR4D9	11	59282922	Silent	SNP	C	TCGA-CH-5748-01A-11D-1576-08	39327798	59282922	75723594	29	451											
NPAT	4863	broad.mit.edu	37	chr11	108032027	108032027	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cggggcacaggtaaatcactActatcagcaagcctacttac	13	8	8	12	1	2	0	2	0	0	0	2	0	2	0	1	3	5	3	1	3	7	5			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr11:108032027A>G	ENST00000278612.8	-	17	3891	c.3786T>C	c.(3784-3786)agT>agC	p.S1262S		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	1262					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	p.S1262S(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		GTAAATCACTACTATCAGCAA	0.438													6	234					0	0	1	0	0	G	108032027	A	G	108032027	2	3	10	1	0	0	0	0	0	0	0	1	10613	388	14	3		3	NPAT	11	108032027	Silent	SNP	A	TCGA-CH-5748-01A-11D-1576-08	48749105	108032027	26974489	30	452											
C1S	716	broad.mit.edu	37	chr12	7177943	7177943	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atgcaggaaaatagcaccccCcgtgaggactaatccagata	15	6	9	11	1	0	2	0	1	0	1	1	4	1	4	4	2	2	2	4	2	5	3			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr12:7177943C>T	ENST00000406697.1	+	15	2683	c.2055C>T	c.(2053-2055)ccC>ccT	p.P685P	C1S_ENST00000402681.3_Silent_p.P518P|C1S_ENST00000360817.5_Silent_p.P685P|C1S_ENST00000328916.3_Silent_p.P685P			P09871	C1S_HUMAN	complement component 1, s subcomponent	685					complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	p.P685P(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	ATAGCACCCCCCGTGAGGACT	0.483													15	127					0	0	1	0	0	T	7177943	C	T	7177943	2	4	10	1	0	0	0	0	0	0	0	1	1987	610	22	2		2	C1S	12	7177943	Silent	SNP	C	TCGA-CH-5748-01A-11D-1576-08		7177943	126673952	31	453											
FREM2	341640	broad.mit.edu	37	chr13	39262558	39262558	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacctgttgatcttcaacctTacttctccattccagcctgg	7	14	6	14	0	3	1	1	1	2	0	5	2	4	1	5	1	3	1	5	1	2	5			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr13:39262558T>C	ENST00000280481.7	+	1	1293	c.1077T>C	c.(1075-1077)ctT>ctC	p.L359L		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	359					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.L359L(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TCTTCAACCTTACTTCTCCAT	0.572													5	79					0	0	1	0	0	C	39262558	T	C	39262558	2	2	10	1	0	0	0	0	0	0	0	1	6080	1741	61	3		3	FREM2	13	39262558	Silent	SNP	T	TCGA-CH-5748-01A-11D-1576-08		39262558	75907320	32	454											
GPR183	1880	broad.mit.edu	37	chr13	99948335	99948335	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgtgatgtgcatagaggTcacagtcatttccctgagga	9	12	12	8	0	2	3	2	2	0	1	3	4	3	4	1	2	2	2	1	2	1	2			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr13:99948335T>G	ENST00000376414.4	-	2	148	c.65A>C	c.(64-66)gAc>gCc	p.D22A	UBAC2_ENST00000376440.2_Intron|UBAC2_ENST00000403766.3_Intron	NM_004951.4	NP_004942.1	P32249	GP183_HUMAN	G protein-coupled receptor 183	22					humoral immune response|mature B cell differentiation involved in immune response	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.D22A(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	23						TGCATAGAGGTCACAGTCATT	0.478													7	96					0	0	1	0	0	G	99948335	T	G	99948335	3	3	10	1	0	0	0	0	1	0	0	0	6718	1667	58	5	1024	5	GPR183	13	99948335	Missense_Mutation	SNP	T	TCGA-CH-5748-01A-11D-1576-08	60685777	99948335	15221543	33	455											
PROZ	8858	broad.mit.edu	37	chr13	113825982	113825982	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgcacatgcggtatgacgcgGacgcgggggagaatgacctg	9	6	17	9	5	0	3	0	2	0	1	0	5	0	4	1	4	2	2	1	4	2	1			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr13:113825982G>A	ENST00000342783.4	+	9	839	c.832G>A	c.(832-834)Gac>Aac	p.D278N	PROZ_ENST00000375547.2_Missense_Mutation_p.D256N	NM_001256134.1	NP_001243063.1	P22891	PROZ_HUMAN	protein Z, vitamin K-dependent plasma glycoprotein	256	Peptidase S1.				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|serine-type endopeptidase activity	p.D256N(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	all cancers(43;0.104)		Menadione(DB00170)	GTATGACGCGGACGCGGGGGA	0.562													9	129					0	0	1	0	0	A	113825982	G	A	113825982	3	1	10	1	0	0	0	0	1	0	0	0	12614	1174	41	2	796	2	PROZ	13	113825982	Missense_Mutation	SNP	G	TCGA-CH-5748-01A-11D-1576-08	13877647	113825982	1343896	34	456											
DHRS7	51635	broad.mit.edu	37	chr14	60619800	60619800	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtcaaggacaccgtccctaAgtagttaagctctattagct	11	12	8	10	1	2	0	1	0	1	0	3	1	3	1	2	1	2	4	2	1	6	5	rs111656127		TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr14:60619800A>C	ENST00000216500.5	-	5	945	c.490T>G	c.(490-492)Tta>Gta	p.L164V	DHRS7_ENST00000557185.1_Missense_Mutation_p.L164V|PCNXL4_ENST00000406949.1_Intron|PCNXL4_ENST00000553898.1_Intron|DHRS7_ENST00000553986.1_5'UTR|DHRS7_ENST00000536410.2_Missense_Mutation_p.L114V			Q9Y394	DHRS7_HUMAN	dehydrogenase/reductase (SDR family) member 7	164							binding|oxidoreductase activity	p.L164V(1)		endometrium(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(108;0.121)		ACCGTCCCTAAGTAGTTAAGC	0.443													16	174					0	0	1	0	0	C	60619800	A	C	60619800	3	2	10	1	0	0	0	0	1	0	0	0	4523	69	3	5	545	5	DHRS7	14	60619800	Missense_Mutation	SNP	A	TCGA-CH-5748-01A-11D-1576-08		60619800	46729740	35	457											
ETFA	2108	broad.mit.edu	37	chr15	76584842	76584842	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgagttgccaaaatcaatGgtgtcagttcctctgagaat	11	13	9	8	0	4	2	2	2	2	1	5	3	5	2	2	1	1	2	2	1	4	2			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr15:76584842G>A	ENST00000557943.1	-	4	361	c.281C>T	c.(280-282)cCa>cTa	p.P94L	ETFA_ENST00000559602.1_Intron|ETFA_ENST00000560726.1_5'UTR|ETFA_ENST00000433983.2_Missense_Mutation_p.P45L	NM_000126.3	NP_000117.1	P13804	ETFA_HUMAN	electron-transfer-flavoprotein, alpha polypeptide	94					respiratory electron transport chain|transport	mitochondrial matrix	electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity	p.P94L(1)		endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9						CAAAATCAATGGTGTCAGTTC	0.338													7	102					0	0	1	0	0	A	76584842	G	A	76584842	3	1	10	1	0	0	0	0	1	0	0	0	5297	1348	47	2	756	2	ETFA	15	76584842	Missense_Mutation	SNP	G	TCGA-CH-5748-01A-11D-1576-08		76584842	25946550	36	458											
ITFG3	83986	broad.mit.edu	37	chr16	309488	309488	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttttctctttcagttatctAtgactttctggctgtggatg	5	20	9	7	0	4	1	1	1	3	0	5	2	4	2	0	2	0	3	0	2	2	6			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr16:309488A>G	ENST00000399932.3	+	4	726	c.275A>G	c.(274-276)tAt>tGt	p.Y92C	ITFG3_ENST00000450082.2_Missense_Mutation_p.Y92C|ITFG3_ENST00000442458.2_Missense_Mutation_p.Y92C|ITFG3_ENST00000600536.1_Missense_Mutation_p.Y92C|ITFG3_ENST00000301678.3_Missense_Mutation_p.Y92C|ITFG3_ENST00000301679.2_Missense_Mutation_p.Y92C			Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	92						integral to membrane		p.Y92C(1)		central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				TCAGTTATCTATGACTTTCTG	0.453													19	369					0	0	1	0	0	G	309488	A	G	309488	3	3	10	1	0	0	0	0	1	0	0	0	7915	449	16	3	281	3	ITFG3	16	309488	Missense_Mutation	SNP	A	TCGA-CH-5748-01A-11D-1576-08		309488	90045265	37	459											
PKD1	5310	broad.mit.edu	37	chr16	2140788	2140788	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagacggaccactggcgcaCgaagcgtagctgctgggcag	11	4	15	11	4	0	1	0	0	0	1	0	3	0	2	1	3	3	5	1	3	3	1			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr16:2140788C>T	ENST00000262304.4	-	44	12233	c.12025G>A	c.(12025-12027)Gtg>Atg	p.V4009M	PKD1_ENST00000423118.1_Missense_Mutation_p.V4008M	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	4009					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	p.V4009M(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CACTGGCGCACGAAGCGTAGC	0.672													14	78					0	0	1	0	0	T	2140788	C	T	2140788	3	4	10	1	0	0	0	0	1	0	0	0	12011	536	19	1	898	1	PKD1	16	2140788	Missense_Mutation	SNP	C	TCGA-CH-5748-01A-11D-1576-08	1831300	2140788	88213965	38	460											
CREBBP	1387	broad.mit.edu	37	chr16	3786756	3786756	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttgatcaggtgggtggcaAtggaagatgtaatcatctcc	10	13	12	6	0	3	2	2	1	1	1	4	3	3	3	1	4	0	2	1	4	3	3			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr16:3786756A>G	ENST00000262367.5	-	27	5264	c.4455T>C	c.(4453-4455)caT>caC	p.H1485H	CREBBP_ENST00000382070.3_Silent_p.H1447H	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1485	Cys/His-rich.|Interaction with TRERF1.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.H1485H(2)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GTGGGTGGCAATGGAAGATGT	0.512			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						16	169					0	0	1	0	0	G	3786756	A	G	3786756	2	3	10	1	0	0	0	0	0	0	0	1	3884	98	4	3		3	CREBBP	16	3786756	Silent	SNP	A	TCGA-CH-5748-01A-11D-1576-08	1645968	3786756	86567997	39	461											
XPO6	23214	broad.mit.edu	37	chr16	28157508	28157508	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agatatccaaacaagagaagTaaccttcatgagtaggctat	17	9	8	7	0	1	3	1	1	0	2	2	4	2	3	2	1	2	3	2	1	7	5			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr16:28157508T>C	ENST00000304658.5	-	9	1741	c.1241A>G	c.(1240-1242)tAc>tGc	p.Y414C	XPO6_ENST00000565698.1_Missense_Mutation_p.Y400C	NM_015171.2	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	414					protein export from nucleus		protein binding|protein transporter activity	p.Y414C(3)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						ACAAGAGAAGTAACCTTCATG	0.358													5	124					0	0	1	0	0	C	28157508	T	C	28157508	3	2	10	1	0	0	0	0	1	0	0	0	17508	1638	57	3	2200	3	XPO6	16	28157508	Missense_Mutation	SNP	T	TCGA-CH-5748-01A-11D-1576-08	24370752	28157508	62197245	40	462											
CRK	1398	broad.mit.edu	37	chr17	1359240	1359240	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgttgatgatgtagtgggAgacgcgcgagttctctgaga	8	11	16	6	3	1	4	0	3	1	2	2	7	1	4	0	1	0	4	0	1	1	3			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr17:1359240A>C	ENST00000300574.2	-	1	312	c.172T>G	c.(172-174)Tcc>Gcc	p.S58A	CRK_ENST00000398970.5_Missense_Mutation_p.S58A|CRK_ENST00000574295.1_Missense_Mutation_p.S58A|CRK_ENST00000572145.1_Intron	NM_016823.3	NP_058431.2	P46108	CRK_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog	58	SH2.				actin cytoskeleton organization|activation of MAPKK activity|blood coagulation|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of transcription from RNA polymerase II promoter	cytosol|endosome|nucleus|plasma membrane	protein binding|SH2 domain binding	p.S58A(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)	9				UCEC - Uterine corpus endometrioid carcinoma (25;0.083)		ATGTAGTGGGAGACGCGCGAG	0.731													7	40					0	0	1	0	0	C	1359240	A	C	1359240	3	2	10	1	0	0	0	0	1	0	0	0	3907	304	11	5	754	5	CRK	17	1359240	Missense_Mutation	SNP	A	TCGA-CH-5748-01A-11D-1576-08		1359240	79835970	41	463											
NEURL4	84461	broad.mit.edu	37	chr17	7221921	7221921	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaagatgcagccccccagAgctgtccagccgcagtccca	10	5	10	16	1	0	3	0	1	0	2	2	3	2	3	6	0	4	3	6	0	1	0			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr17:7221921A>G	ENST00000399464.2	-	23	3772	c.3757T>C	c.(3757-3759)Tct>Cct	p.S1253P	NEURL4_ENST00000574120.1_5'UTR|NEURL4_ENST00000570460.1_Missense_Mutation_p.S1229P|RP11-542C16.2_ENST00000575474.1_Silent_p.A66A|NEURL4_ENST00000315614.7_Missense_Mutation_p.S1251P	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4									p.S1253P(1)|p.S1251P(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGCCCCCCAGAGCTGTCCAGC	0.617													8	63					0	0	1	0	0	G	7221921	A	G	7221921	3	3	10	1	0	0	0	0	1	0	0	0	10394	304	11	3	959	3	NEURL4	17	7221921	Missense_Mutation	SNP	A	TCGA-CH-5748-01A-11D-1576-08	5862681	7221921	73973289	42	464											
NLE1	54475	broad.mit.edu	37	chr17	33462276	33462276	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acccctactcacttgcccgtCctgccatcccacagcttgat	7	10	5	19	1	1	1	1	1	0	0	3	1	3	1	6	0	4	1	6	0	1	3			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr17:33462276C>T	ENST00000586869.1	-	9	1349	c.330G>A	c.(328-330)agG>agA	p.R110R	NLE1_ENST00000442241.4_Silent_p.R402R|NLE1_ENST00000360831.5_Silent_p.R360R			Q9NVX2	NLE1_HUMAN	notchless homolog 1 (Drosophila)	402						nucleolus		p.R402R(2)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				ACTTGCCCGTCCTGCCATCCC	0.567													9	80					0	0	1	0	0	T	33462276	C	T	33462276	2	4	10	1	0	0	0	0	0	0	0	1	10507	854	30	2		2	NLE1	17	33462276	Silent	SNP	C	TCGA-CH-5748-01A-11D-1576-08	26240355	33462276	47732934	43	465											
ZNF799	90576	broad.mit.edu	37	chr19	12502821	12502821	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccacattcatgatactcatAtggtttgtgcccagcaccaa	11	12	6	12	0	2	1	2	1	0	0	3	1	3	1	3	1	3	2	3	1	3	4	rs2902319		TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr19:12502821A>G	ENST00000419318.1	-	4	1044	c.295T>C	c.(295-297)Tat>Cat	p.Y99H	CTD-3105H18.16_ENST00000595562.1_Missense_Mutation_p.Y131H|ZNF799_ENST00000430385.3_Missense_Mutation_p.Y131H|CTD-3105H18.14_ENST00000435033.1_Intron			Q96GE5	ZN799_HUMAN	zinc finger protein 799	131					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Y131H(1)		breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TGATACTCATATGGTTTGTGC	0.448													4	181					0	0	1	0	0	G	12502821	A	G	12502821	3	3	10	1	0	0	0	0	1	0	0	0	18215	449	16	3	1544	3	ZNF799	19	12502821	Missense_Mutation	SNP	A	TCGA-CH-5748-01A-11D-1576-08		12502821	46626162	44	466											
ZNF781	163115	broad.mit.edu	37	chr19	38160949	38160949	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttccacatatctgacatTcatagggtttctgattagca	10	15	7	9	0	3	2	1	2	2	0	4	2	4	2	1	1	1	3	1	1	3	6			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr19:38160949T>A	ENST00000358582.4	-	4	849	c.101A>T	c.(100-102)gAa>gTa	p.E34V	ZNF781_ENST00000590008.1_Missense_Mutation_p.E34V|ZFP30_ENST00000586732.1_Intron	NM_152605.3	NP_689818.2	Q8N8C0	ZN781_HUMAN	zinc finger protein 781	34					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E34V(1)		NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						TATCTGACATTCATAGGGTTT	0.383													21	290					0	0	1	0	0	A	38160949	T	A	38160949	3	1	10	1	0	0	0	0	1	0	0	0	18203	1783	62	5	886	5	ZNF781	19	38160949	Missense_Mutation	SNP	T	TCGA-CH-5748-01A-11D-1576-08	25658128	38160949	20968034	45	467											
SIGLEC11	114132	broad.mit.edu	37	chr19	50455562	50455562	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccgatgcttacctgaagaCgacaaggcaggaacagaaag	15	5	11	10	2	0	3	0	1	0	2	1	6	1	4	2	2	3	2	2	2	5	1	rs140702198	byFrequency	TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr19:50455562C>T	ENST00000447370.2	-	9	1831	c.1741G>A	c.(1741-1743)Gtc>Atc	p.V581I	SIGLEC11_ENST00000426971.2_Missense_Mutation_p.V485I|CTC-326K19.6_ENST00000451973.1_Intron	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	581					cell adhesion	integral to membrane	sugar binding	p.V569I(1)|p.V581I(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		TACCTGAAGACGACAAGGCAG	0.622													6	97					0	0	1	0	0	T	50455562	C	T	50455562	3	4	10	1	0	0	0	0	1	0	0	0	14362	536	19	1	367	1	SIGLEC11	19	50455562	Missense_Mutation	SNP	C	TCGA-CH-5748-01A-11D-1576-08	12294613	50455562	8673421	46	468											
RASSF2	9770	broad.mit.edu	37	chr20	4770305	4770305	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggtgctgttgatgcggacGttggtgacagagccataggc	8	10	16	7	2	0	3	0	2	0	1	0	4	0	4	1	4	3	3	1	4	1	3			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr20:4770305G>A	ENST00000379400.3	-	8	771	c.576C>T	c.(574-576)aaC>aaT	p.N192N	RASSF2_ENST00000478553.1_5'UTR|RASSF2_ENST00000379376.2_Silent_p.N192N	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	192	Ras-associating.				cell cycle|signal transduction	nucleus	protein binding	p.N192N(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						TGATGCGGACGTTGGTGACAG	0.542													7	66					0	0	1	0	0	A	4770305	G	A	4770305	2	1	10	1	0	0	0	0	0	0	0	1	13138	1136	40	1		1	RASSF2	20	4770305	Silent	SNP	G	TCGA-CH-5748-01A-11D-1576-08		4770305	58255215	47	469											
LDOC1L	84247	broad.mit.edu	37	chr22	44892839	44892839	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagagcatctgcctctctcGcacagccctattagaggcag	9	8	10	14	1	2	2	0	0	2	2	4	2	2	2	2	1	3	4	2	1	2	2			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chr22:44892839G>A	ENST00000341255.3	-	2	1107	c.598C>T	c.(598-600)Cga>Tga	p.R200*		NM_032287.2	NP_115663.2	Q6ICC9	LDOCL_HUMAN	leucine zipper, down-regulated in cancer 1-like	200								p.R200*(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(3)|prostate(2)	11		Ovarian(80;0.024)|all_neural(38;0.0416)		LUAD - Lung adenocarcinoma(64;0.0161)		TGCCTCTCTCGCACAGCCCTA	0.647													11	63					0	0	1	0	0	A	44892839	G	A	44892839	4	1	10	1	0	0	0	0	0	1	0	0	8749	1095	38	1	125	1	LDOC1L	22	44892839	Nonsense_Mutation	SNP	G	TCGA-CH-5748-01A-11D-1576-08		44892839	6411727	48	470											
MED12	9968	broad.mit.edu	37	chrX	70349258	70349258	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggagccgtgtttgctgttCtcaaggctgtgtttgtactt	5	17	12	7	1	1	0	1	0	1	0	2	1	1	1	1	2	3	6	1	2	2	5			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chrX:70349258C>T	ENST00000333646.6	+	26	3869	c.3670C>T	c.(3670-3672)Ctc>Ttc	p.L1224F	MED12_ENST00000374102.1_Missense_Mutation_p.L1224F|MED12_ENST00000374080.3_Missense_Mutation_p.L1224F	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1224					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.L1224F(10)|p.V1223>?(2)|p.L1224V(2)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GTTTGCTGTTCTCAAGGCTGT	0.562			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome				OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	33					0	0	1	0	0	T	70349258	C	T	70349258	3	4	10	1	0	0	0	0	1	0	0	0	9478	913	32	2	3772	2	MED12	23	70349258	Missense_Mutation	SNP	C	TCGA-CH-5748-01A-11D-1576-08		70349258	84921302	49	471											
TCEAL6	158931	broad.mit.edu	37	chrX	101395981	101395981	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtttttctttttgctttcCggggcacataatctccagcc	5	17	7	12	1	2	0	0	0	2	0	4	0	3	0	3	2	2	3	3	2	1	6			TCGA-CH-5748-01A-11D-1576-08	TCGA-CH-5748-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b436546f-99a3-4f71-b1aa-8653fe9471ec	feca02f5-4ac6-4bff-8de2-4256809ab640	g.chrX:101395981C>T	ENST00000372774.3	-	3	572	c.323G>A	c.(322-324)cGg>cAg	p.R108Q	TCEAL6_ENST00000372773.1_Missense_Mutation_p.R108Q	NM_001006938.2	NP_001006939.2	Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6	108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.R108Q(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						TTTTGCTTTCCGGGGCACATA	0.602													28	98					0	0	1	0	0	T	101395981	C	T	101395981	3	4	10	1	0	0	0	0	1	0	0	0	15735	652	23	1	232	1	TCEAL6	23	101395981	Missense_Mutation	SNP	C	TCGA-CH-5748-01A-11D-1576-08	31046723	101395981	53874579	50	472											
PLCH2	9651	broad.mit.edu	37	chr1	2411659	2411659	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgacgaggccgacaagaacGgggatggcagcctgagcatt	11	6	15	9	3	0	3	0	2	0	1	0	6	0	4	2	4	3	2	2	4	2	2			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr1:2411659G>T	ENST00000449969.1	+	4	633	c.472G>T	c.(472-474)Ggg>Tgg	p.G158W	PLCH2_ENST00000419816.2_Missense_Mutation_p.G185W|PLCH2_ENST00000378486.3_Missense_Mutation_p.G185W|PLCH2_ENST00000378488.3_Missense_Mutation_p.G185W|PLCH2_ENST00000378483.2_Intron|PLCH2_ENST00000288766.5_Intron			O75038	PLCH2_HUMAN	phospholipase C, eta 2	185					intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.G185W(1)|p.G32W(1)		central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		CGACAAGAACGGGGATGGCAG	0.617													36	100					1.49673e-21	1.7254e-21	0.819951	1	0	T	2411659	G	T	2411659	3	4	11	1	0	0	0	0	1	0	0	0	12086	1116	39	4	567	4	PLCH2	1	2411659	Missense_Mutation	SNP	G	TCGA-CH-5750-01A-11D-1576-08		2411659	246838962	1	473											
PKN2	5586	broad.mit.edu	37	chr1	89206847	89206848	+	Frame_Shift_Ins	INS	-	-	A																															tgaggaaagtcacaacagatINSaaaaaaagtttggcttatgt																										TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr1:89206847_89206848insA	ENST00000370521.3	+	2	584_585	c.225_226insA	c.(223-228)gaaaaafs	p.EK75fs	PKN2_ENST00000316005.7_Frame_Shift_Ins_p.EK75fs|PKN2_ENST00000370513.5_Frame_Shift_Ins_p.EK75fs|PKN2_ENST00000370505.3_Intron	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	75					signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		TCACAACAGATAAAAAAAGTTT	0.307													40	75	---	---	---	---						A	89206848	-	A	89206847	7	5	11	1	0	1	1	0	0	0	0	0	12028	1403	49	0	231	0	PKN2	1	89206847	Frame_Shift_Ins	INS	-	TCGA-CH-5750-01A-11D-1576-08	86795188	89206847	160043774	2	474											
VAV3	10451	broad.mit.edu	37	chr1	108247662	108247662	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtggaaattggagtctgcAtagtctggtcttatgttaga	9	15	12	5	1	3	1	0	0	3	1	4	3	3	3	0	3	1	2	0	3	4	4			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr1:108247662A>G	ENST00000370056.4	-	16	1798	c.1524T>C	c.(1522-1524)taT>taC	p.Y508Y	VAV3_ENST00000371846.4_Silent_p.Y443Y|VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000527011.1_Silent_p.Y508Y	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	508					angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	p.Y508Y(2)|p.Y508*(1)		NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		TGGAGTCTGCATAGTCTGGTC	0.403													3	133					0	0	0.115264	0	0	G	108247662	A	G	108247662	2	3	11	1	0	0	0	0	0	0	0	1	17193	224	8	3		3	VAV3	1	108247662	Silent	SNP	A	TCGA-CH-5750-01A-11D-1576-08	19040815	108247662	141002959	3	475											
MSH6	2956	broad.mit.edu	37	chr2	48026269	48026269	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagagaagagatgagcacAggaggaggcctgatcacccc	16	3	13	9	0	1	4	1	2	0	2	1	8	1	6	3	3	1	1	3	3	3	0	rs63751304		TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr2:48026269A>G	ENST00000234420.4	+	4	1299	c.1147A>G	c.(1147-1149)Agg>Ggg	p.R383G	MSH6_ENST00000538136.1_Missense_Mutation_p.R81G|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Missense_Mutation_p.R253G	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	383					determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.R383G(2)|p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGATGAGCACAGGAGGAGGCC	0.478			"Mis, N, F, S"		colorectal	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				47	110					0	0	0.864702	0	0	G	48026269	A	G	48026269	3	3	11	1	0	0	0	0	1	0	0	0	9923	179	7	3	1161	3	MSH6	2	48026269	Missense_Mutation	SNP	A	TCGA-CH-5750-01A-11D-1576-08		48026269	195173104	4	476											
REG1A	5967	broad.mit.edu	37	chr2	79349167	79349167	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtctgtgctcacccaggcCgagggtgcctttgtggcctc	3	11	14	13	1	2	0	1	0	1	0	3	1	2	0	4	3	2	1	4	3	0	1			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr2:79349167C>T	ENST00000233735.1	+	4	340	c.237C>T	c.(235-237)gcC>gcT	p.A79A		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	79	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding	p.A79A(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						TCACCCAGGCCGAGGGTGCCT	0.527													73	115					0	0	0.870114	0	0	T	79349167	C	T	79349167	2	4	11	1	0	0	0	0	0	0	0	1	13262	639	23	1		1	REG1A	2	79349167	Silent	SNP	C	TCGA-CH-5750-01A-11D-1576-08	31322898	79349167	163850206	5	477											
PROM2	150696	broad.mit.edu	37	chr2	95944760	95944760	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggcagtggcccagcagcCggaaggggtgaggacactgg	10	3	19	9	1	0	1	0	1	0	0	0	4	0	3	2	7	2	2	2	7	2	0			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr2:95944760C>A	ENST00000317620.9	+	10	1275	c.1142C>A	c.(1141-1143)cCg>cAg	p.P381Q	PROM2_ENST00000317668.4_Missense_Mutation_p.P381Q|PROM2_ENST00000542147.1_Missense_Mutation_p.P381Q|PROM2_ENST00000403131.2_Missense_Mutation_p.P381Q	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	381						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane		p.P381Q(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GCCCAGCAGCCGGAAGGGGTG	0.662													3	99					0.115264	0.1211	0.115264	1	0	A	95944760	C	A	95944760	3	1	11	1	0	0	0	0	1	0	0	0	12608	652	23	4	1180	4	PROM2	2	95944760	Missense_Mutation	SNP	C	TCGA-CH-5750-01A-11D-1576-08	16595593	95944760	147254613	6	478											
CNTNAP5	129684	broad.mit.edu	37	chr2	125521571	125521571	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggacgcttctggaacgccGtctcattttatacagaagcc	10	10	9	12	3	2	1	1	0	2	1	3	3	2	3	2	2	3	1	2	2	4	4			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr2:125521571G>A	ENST00000431078.1	+	16	2741	c.2377G>A	c.(2377-2379)Gtc>Atc	p.V793I		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	793	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.V793I(2)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CTGGAACGCCGTCTCATTTTA	0.428													69	118					0	0	0.870114	0	0	A	125521571	G	A	125521571	3	1	11	1	0	0	0	0	1	0	0	0	3673	1145	40	1	2439	1	CNTNAP5	2	125521571	Missense_Mutation	SNP	G	TCGA-CH-5750-01A-11D-1576-08	29576811	125521571	117677802	7	479											
SSB	6741	broad.mit.edu	37	chr2	170663358	170663358	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggttagaagataaaggtcaaGtactaaatattcagatgaga	18	10	10	3	0	2	4	2	1	0	4	2	5	2	4	0	2	1	2	0	2	9	6			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr2:170663358G>T	ENST00000409333.1	+	5	656	c.409G>T	c.(409-411)Gta>Tta	p.V137L	SSB_ENST00000260956.4_Missense_Mutation_p.V137L			P05455	LA_HUMAN	Sjogren syndrome antigen B (autoantigen La)	137	RRM.				histone mRNA metabolic process|tRNA modification	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding|tRNA binding	p.V137L(1)		endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TAAAGGTCAAGTACTAAATAT	0.299													5	165					0.000602214	0.00064914	0.184627	1	0	T	170663358	G	T	170663358	3	4	11	1	0	0	0	0	1	0	0	0	15234	1029	36	4	423	4	SSB	2	170663358	Missense_Mutation	SNP	G	TCGA-CH-5750-01A-11D-1576-08	45141787	170663358	72536015	8	480											
TTN	7273	broad.mit.edu	37	chr2	179472383	179472383	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatttgtattccacccttgaCagaaacatccagttccacag	12	12	5	12	0	0	2	0	1	0	1	3	2	3	2	4	0	1	2	4	0	3	6			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr2:179472383C>T	ENST00000589042.1	-	277	53256	c.53032G>A	c.(53032-53034)Gtc>Atc	p.V17678I	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V15110I|TTN_ENST00000342175.6_Missense_Mutation_p.V8805I|TTN_ENST00000460472.2_Missense_Mutation_p.V8613I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V16037I|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V8738I|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16037	Fibronectin type-III 28.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.V8613I(2)|p.V15110I(2)|p.V8738I(1)|p.V8805I(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCACCCTTGACAGAAACATCC	0.428													79	116					0	0	0.870114	0	0	T	179472383	C	T	179472383	3	4	11	1	0	0	0	0	1	0	0	0	16797	478	17	2	55005	2	TTN	2	179472383	Missense_Mutation	SNP	C	TCGA-CH-5750-01A-11D-1576-08	8809025	179472383	63726990	9	481											
ZDBF2	57683	broad.mit.edu	37	chr2	207170939	207170939	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtcacagaaacaaaacttCggaagaaggctcataccagc	16	6	8	11	1	2	2	2	0	0	2	3	3	2	3	1	2	4	1	1	2	6	2			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr2:207170939C>T	ENST00000374423.3	+	5	2073	c.1687C>T	c.(1687-1689)Cgg>Tgg	p.R563W		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	563							nucleic acid binding|zinc ion binding	p.R563W(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AACAAAACTTCGGAAGAAGGC	0.438													27	47					0	0	0.693898	0	0	T	207170939	C	T	207170939	3	4	11	1	0	0	0	0	1	0	0	0	17657	875	31	1	1697	1	ZDBF2	2	207170939	Missense_Mutation	SNP	C	TCGA-CH-5750-01A-11D-1576-08	27698556	207170939	36028434	10	482											
SPHKAP	80309	broad.mit.edu	37	chr2	228858269	228858269	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttaatcatgggagaagatgGcatgctttcctgataaatgt	12	13	10	6	0	1	3	1	1	0	2	2	4	2	3	1	2	1	2	1	2	4	3			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr2:228858269G>A	ENST00000392056.3	-	9	4748	c.4702C>T	c.(4702-4704)Cca>Tca	p.P1568S	SPHKAP_ENST00000344657.5_Intron	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1568						cytoplasm	protein binding	p.P1568S(1)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GGAGAAGATGGCATGCTTTCC	0.423													6	14					0	0	0.27861	0	0	A	228858269	G	A	228858269	3	1	11	1	0	0	0	0	1	0	0	0	15104	1203	42	2	416	2	SPHKAP	2	228858269	Missense_Mutation	SNP	G	TCGA-CH-5750-01A-11D-1576-08	21687330	228858269	14341104	11	483											
BRPF1	7862	broad.mit.edu	37	chr3	9788936	9788936	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctggagggccgcaagtccaAcatccgcaagtcagtacaga	12	5	12	12	2	1	1	1	0	0	1	3	2	3	2	3	2	2	4	3	2	4	1			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr3:9788936A>G	ENST00000383829.2	+	14	3970	c.3566A>G	c.(3565-3567)aAc>aGc	p.N1189S	BRPF1_ENST00000433861.2_Missense_Mutation_p.N1088S|BRPF1_ENST00000457855.1_Missense_Mutation_p.N1183S|BRPF1_ENST00000302054.3_Missense_Mutation_p.N1183S|BRPF1_ENST00000424362.1_Missense_Mutation_p.N1182S	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	1183					histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding	p.N1189S(1)		central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					CGCAAGTCCAACATCCGCAAG	0.567													28	124					0	0	0.788014	0	0	G	9788936	A	G	9788936	3	3	11	1	0	0	0	0	1	0	0	0	1522	43	2	3	3616	3	BRPF1	3	9788936	Missense_Mutation	SNP	A	TCGA-CH-5750-01A-11D-1576-08		9788936	188233494	12	484											
SLITRK3	22865	broad.mit.edu	37	chr3	164908014	164908014	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaacctatttccacgtaggTccaaatgggttaaagagaca	14	11	8	8	1	0	1	0	0	0	1	2	2	2	1	3	2	1	2	3	2	6	5			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr3:164908014T>C	ENST00000475390.1	-	2	1048	c.605A>G	c.(604-606)gAc>gGc	p.D202G	SLITRK3_ENST00000241274.3_Missense_Mutation_p.D202G			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	202						integral to membrane		p.D202G(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TCCACGTAGGTCCAAATGGGT	0.408										HNSCC(40;0.11)			56	117					0	0	0.870114	0	0	C	164908014	T	C	164908014	3	2	11	1	0	0	0	0	1	0	0	0	14798	1667	58	3	2332	3	SLITRK3	3	164908014	Missense_Mutation	SNP	T	TCGA-CH-5750-01A-11D-1576-08	155119078	164908014	33114416	13	485											
INTU	27152	broad.mit.edu	37	chr4	128577790	128577791	+	Splice_Site	INS	-	-	GT																															tattgttattctggtttcagINSgtgatgtccttgttgctgtg																										TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr4:128577790_128577791insGT	ENST00000335251.5	+	3	785_786		c.e3-1		INTU_ENST00000296461.5_Splice_Site	NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein											breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						TCTGGTTTCAGGTGATGTCCTT	0.366													58	113	---	---	---	---						GT	128577791	-	GT	128577790	8	5	11	1	0	1	1	0	0	0	1	0	7830	1014	35	0	692	0	INTU	4	128577790	Splice_Site	INS	-	TCGA-CH-5750-01A-11D-1576-08		128577790	62576486	14	486											
PLCXD3	345557	broad.mit.edu	37	chr5	41382448	41382448	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctgggcttggtggaaattcGaagatcaaaataacgaattc	14	11	10	6	2	2	1	1	0	1	1	4	4	2	2	0	3	1	1	0	3	6	4			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr5:41382448G>A	ENST00000377801.3	-	2	366	c.292C>T	c.(292-294)Cga>Tga	p.R98*	PLCXD3_ENST00000328457.3_Nonsense_Mutation_p.R98*			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	98	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	p.R98*(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GTGGAAATTCGAAGATCAAAA	0.443													6	186					0	0	0.217242	0	0	A	41382448	G	A	41382448	4	1	11	1	0	0	0	0	0	1	0	0	12091	1066	37	1	681	1	PLCXD3	5	41382448	Nonsense_Mutation	SNP	G	TCGA-CH-5750-01A-11D-1576-08		41382448	139532812	15	487											
EPB41L4A	64097	broad.mit.edu	37	chr5	111754715	111754716	+	Frame_Shift_Del	DEL	GA	GA	-																															ttcgcagtaaaattcttccgGaacagcgcagaaacagccca																										TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr5:111754715_111754716delGA	ENST00000261486.5	-	1	297_298	c.21_22delTC	c.(19-24)gtcgfs	p.VP7fs		NM_022140.3	NP_071423.3	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	7						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		AATTCTTCCGGAACAGCGCAGA	0.594													17	62	---	---	---	---						-	111754716	GA	-	111754715	7	5	11	1	0	1	0	1	0	0	0	0	5183	1174	41	0	2130	0	EPB41L4A	5	111754715	Frame_Shift_Del	DEL	GA	TCGA-CH-5750-01A-11D-1576-08	70372267	111754715	69160545	16	488											
FNIP1	96459	broad.mit.edu	37	chr5	131034664	131034664	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atgccaaacttctctgactgGcatcagctgatctccggctc	8	11	8	14	1	3	2	1	2	2	0	6	2	3	2	2	2	3	3	2	2	1	1			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr5:131034664G>A	ENST00000307968.7	-	10	1063	c.1064C>T	c.(1063-1065)gCc>gTc	p.A355V	FNIP1_ENST00000307954.8_Missense_Mutation_p.A338V|FNIP1_ENST00000514667.1_Intron|FNIP1_ENST00000511848.1_Missense_Mutation_p.A383V|FNIP1_ENST00000510461.1_Missense_Mutation_p.A383V	NM_001008738.2	NP_001008738.2			folliculin interacting protein 1									p.A383V(1)		NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		TCTCTGACTGGCATCAGCTGA	0.353													7	239					0	0	0.307466	0	0	A	131034664	G	A	131034664	3	1	11	1	0	0	0	0	1	0	0	0	6008	1203	42	2	2384	2	FNIP1	5	131034664	Missense_Mutation	SNP	G	TCGA-CH-5750-01A-11D-1576-08	19279949	131034664	49880596	17	489											
P4HA2	8974	broad.mit.edu	37	chr5	131531126	131531126	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcttaggccaaattgcagcCcccagatcagggaagacggt	11	8	11	11	1	2	2	1	0	1	2	2	3	2	3	3	3	2	1	3	3	3	3			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr5:131531126C>A	ENST00000401867.1	-	14	1987	c.1419G>T	c.(1417-1419)ggG>ggT	p.G473G	P4HA2_ENST00000379086.1_Silent_p.G471G|P4HA2_ENST00000379100.2_Silent_p.G471G|P4HA2_ENST00000379104.2_Silent_p.G473G|P4HA2_ENST00000360568.3_Silent_p.G471G|P4HA2_ENST00000166534.4_Silent_p.G473G			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	473	Fe2OG dioxygenase.					endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding	p.G473G(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	AAATTGCAGCCCCCAGATCAG	0.493													32	79					3.3946e-10	3.80746e-10	0.812448	1	0	A	131531126	C	A	131531126	2	1	11	1	0	0	0	0	0	0	0	1	11404	610	22	4		4	P4HA2	5	131531126	Silent	SNP	C	TCGA-CH-5750-01A-11D-1576-08	496462	131531126	49384134	18	490											
PCDHGA2	0	broad.mit.edu	37	chr5	140719143	140719143	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggagcgctctctggaccGcgaggaagaggctgttcacc	7	7	15	12	3	2	1	1	0	1	1	3	5	2	4	2	4	1	4	2	4	1	1			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr5:140719143G>A	ENST00000394576.2	+	1	605	c.605G>A	c.(604-606)cGc>cAc	p.R202H	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1												p.R202H(2)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTCTGGACCGCGAGGAAGAG	0.592													7	129					0	0	0.27861	0	0	A	140719143	G	A	140719143	3	1	11	1	0	0	0	0	1	0	0	0	11601	1087	38	1	607	1	PCDHGA2	5	140719143	Missense_Mutation	SNP	G	TCGA-CH-5750-01A-11D-1576-08	9188017	140719143	40196117	19	491											
TCOF1	6949	broad.mit.edu	37	chr5	149755319	149755319	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatcctccaggccaaaccCacctccagtcctgccaaggg	11	5	7	18	0	0	0	0	0	0	0	4	0	4	0	8	2	3	0	8	2	3	0			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr5:149755319C>T	ENST00000451292.1	+	12	1848	c.1740C>T	c.(1738-1740)ccC>ccT	p.P580P	TCOF1_ENST00000513346.1_Silent_p.P580P|TCOF1_ENST00000394269.3_Silent_p.P580P|TCOF1_ENST00000445265.2_Silent_p.P503P|TCOF1_ENST00000504761.2_Silent_p.P580P|TCOF1_ENST00000323668.7_Silent_p.P503P|TCOF1_ENST00000439160.2_Silent_p.P580P|TCOF1_ENST00000377797.3_Silent_p.P580P			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	580					skeletal system development	nucleolus	protein binding|transporter activity	p.P580P(1)|p.P503P(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGCCAAACCCACCTCCAGTC	0.587													51	146					0	0	0.870114	0	0	T	149755319	C	T	149755319	2	4	11	1	0	0	0	0	0	0	0	1	15768	581	21	2		2	TCOF1	5	149755319	Silent	SNP	C	TCGA-CH-5750-01A-11D-1576-08	9036176	149755319	31159941	20	492											
RANBP17	64901	broad.mit.edu	37	chr5	170395294	170395294	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accggattgcctcgatgttgTaatgagaaaatagagcttgc	12	11	11	7	2	0	2	0	1	0	2	1	5	0	3	2	1	3	3	2	1	4	5			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr5:170395294T>G	ENST00000523189.1	+	14	1787	c.1623T>G	c.(1621-1623)tgT>tgG	p.C541W		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	541					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity	p.C541W(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTCGATGTTGTAATGAGAAAA	0.343			T	TRD@	ALL								17	187					0	0	0.500413	0	0	G	170395294	T	G	170395294	3	3	11	1	0	0	0	0	1	0	0	0	13079	1644	57	5	1677	5	RANBP17	5	170395294	Missense_Mutation	SNP	T	TCGA-CH-5750-01A-11D-1576-08	20639975	170395294	10519966	21	493											
NKAPL	222698	broad.mit.edu	37	chr6	28227392	28227392	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcccaagattccgcaactaCgccttcgcgtcctcctggtc	6	10	7	18	4	0	1	0	0	0	1	6	1	4	1	5	1	2	1	5	1	3	3			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr6:28227392C>T	ENST00000343684.3	+	1	295	c.243C>T	c.(241-243)taC>taT	p.Y81Y		NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	81								p.Y81Y(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						TCCGCAACTACGCCTTCGCGT	0.587													39	80					0	0	0.804634	0	0	T	28227392	C	T	28227392	2	4	11	1	0	0	0	0	0	0	0	1	10487	547	19	1		1	NKAPL	6	28227392	Silent	SNP	C	TCGA-CH-5750-01A-11D-1576-08		28227392	142887675	22	494											
GSTA2	2939	broad.mit.edu	37	chr6	52616466	52616466	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaatgtcagcccggctcagcTtgttgccaacaaggtagtct	9	10	11	11	1	3	0	2	0	1	0	3	1	3	0	2	2	4	4	2	2	4	3			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr6:52616466T>A	ENST00000493422.1	-	6	610	c.455A>T	c.(454-456)aAg>aTg	p.K152M		NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2	152	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	p.K152M(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163)	CCGGCTCAGCTTGTTGCCAAC	0.532													63	146					0	0	0.870114	0	0	A	52616466	T	A	52616466	3	1	11	1	0	0	0	0	1	0	0	0	6872	1609	56	5	221	5	GSTA2	6	52616466	Missense_Mutation	SNP	T	TCGA-CH-5750-01A-11D-1576-08	24389074	52616466	118498601	23	495											
SIM1	6492	broad.mit.edu	37	chr6	100841663	100841663	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgctgggagccaggcctatCggcggggtccagaagctgcg	6	6	18	11	3	0	1	0	0	0	1	2	2	1	2	3	5	4	2	3	5	2	1			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr6:100841663C>T	ENST00000369208.3	-	11	2052	c.1270G>A	c.(1270-1272)Gat>Aat	p.D424N	SIM1_ENST00000262901.4_Missense_Mutation_p.D424N			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	424	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.D424N(1)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CCAGGCCTATCGGCGGGGTCC	0.597													30	55					0	0	0.847076	0	0	T	100841663	C	T	100841663	3	4	11	1	0	0	0	0	1	0	0	0	14378	884	31	1	1038	1	SIM1	6	100841663	Missense_Mutation	SNP	C	TCGA-CH-5750-01A-11D-1576-08	48225197	100841663	70273404	24	496											
PNLDC1	154197	broad.mit.edu	37	chr6	160237001	160237001	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatttttcttttccaatagTgacttgaatcccaccaagaa	12	15	4	10	0	1	3	0	2	1	1	3	3	3	3	3	0	0	0	3	0	6	7			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr6:160237001T>C	ENST00000275275.5	+	13	1134	c.962_splice	c.e13-1	p.S321_splice	PNLDC1_ENST00000392167.3_Splice_Site_p.S332_splice	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	321						integral to membrane|nucleus	nucleic acid binding	p.S321S(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TTTCCAATAGTGACTTGAATC	0.378													5	126					0	0	0.184627	0	0	C	160237001	T	C	160237001	5	2	11	1	0	0	0	0	0	0	1	0	12196	1710	59	3	1009	3	PNLDC1	6	160237001	Splice_Site	SNP	T	TCGA-CH-5750-01A-11D-1576-08	59395338	160237001	10878066	25	497											
NFE2L3	9603	broad.mit.edu	37	chr7	26224957	26224957	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcgtgctaaagctttgcatAtccctttttctgtagatgaa	10	15	8	8	1	1	2	0	1	1	1	2	2	2	2	1	0	4	4	1	0	5	6			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr7:26224957A>T	ENST00000056233.3	+	4	1898	c.1639A>T	c.(1639-1641)Atc>Ttc	p.I547F		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	547					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.I547F(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						AGCTTTGCATATCCCTTTTTC	0.413													5	268					0	0	0.248553	0	0	T	26224957	A	T	26224957	3	4	11	1	0	0	0	0	1	0	0	0	10416	449	16	5	1653	5	NFE2L3	7	26224957	Missense_Mutation	SNP	A	TCGA-CH-5750-01A-11D-1576-08		26224957	132913706	26	498											
HIBADH	11112	broad.mit.edu	37	chr7	27565971	27565971	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctttgtgctggtagcagaGtcttgtgccaatcccagatc	7	13	10	11	0	2	2	0	0	2	2	4	2	3	2	2	1	3	3	2	1	2	3			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr7:27565971G>A	ENST00000265395.2	-	8	1079	c.873C>T	c.(871-873)gaC>gaT	p.D291D		NM_152740.3	NP_689953.1	P31937	3HIDH_HUMAN	3-hydroxyisobutyrate dehydrogenase	291					branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process	mitochondrial matrix	3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity	p.D291D(1)		endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12			GBM - Glioblastoma multiforme(3;0.0368)		NADH(DB00157)	TGGTAGCAGAGTCTTGTGCCA	0.468													13	45					0	0	0.457914	0	0	A	27565971	G	A	27565971	2	1	11	1	0	0	0	0	0	0	0	1	7140	1020	36	2		2	HIBADH	7	27565971	Silent	SNP	G	TCGA-CH-5750-01A-11D-1576-08	1341014	27565971	131572692	27	499											
ANLN	54443	broad.mit.edu	37	chr7	36435954	36435954	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcccacagcagctccaaggtCtatgactcatgctaagcgag	11	7	10	13	1	2	1	1	1	1	0	3	2	3	1	2	1	4	3	2	1	3	2			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr7:36435954C>G	ENST00000265748.2	+	2	319	c.98C>G	c.(97-99)tCt>tGt	p.S33C	ANLN_ENST00000396068.2_Missense_Mutation_p.S33C	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	33	Interaction with CD2AP.|Nuclear localization.|Required for ubiquitination.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding	p.S33C(1)		breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						GCTCCAAGGTCTATGACTCAT	0.473													42	77					0	0	0.847076	0	0	G	36435954	C	G	36435954	3	3	11	1	0	0	0	0	1	0	0	0	688	913	32	4	104	4	ANLN	7	36435954	Missense_Mutation	SNP	C	TCGA-CH-5750-01A-11D-1576-08	8869983	36435954	122702709	28	500											
PHTF2	57157	broad.mit.edu	37	chr7	77469597	77469597	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgtccaaagtcacagatgctAtagtctggtatcaaaagaag	15	9	9	8	1	3	2	2	0	1	2	4	2	4	2	1	1	1	2	1	1	7	3			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr7:77469597A>G	ENST00000416283.2	+	1	151	c.25A>G	c.(25-27)Ata>Gta	p.I9V	PHTF2_ENST00000424760.1_Missense_Mutation_p.I9V|PHTF2_ENST00000450574.1_Missense_Mutation_p.I9V|PHTF2_ENST00000275575.7_Missense_Mutation_p.I9V|PHTF2_ENST00000415251.2_Missense_Mutation_p.I9V|PHTF2_ENST00000307305.8_Missense_Mutation_p.I9V|PHTF2_ENST00000422959.2_Missense_Mutation_p.I9V|PHTF2_ENST00000248550.7_Missense_Mutation_p.I9V	NM_001127357.1|NM_020432.4	NP_001120829.1|NP_065165.3	Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	9					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding	p.I9V(2)		endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						CACAGATGCTATAGTCTGGTA	0.318													73	125					0	0	0.870114	0	0	G	77469597	A	G	77469597	3	3	11	1	0	0	0	0	1	0	0	0	11911	449	16	3	27	3	PHTF2	7	77469597	Missense_Mutation	SNP	A	TCGA-CH-5750-01A-11D-1576-08	41033643	77469597	81669066	29	501											
ADAM9	8754	broad.mit.edu	37	chr8	38899534	38899534	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actttaaataaaggaggaaaCtgccttcttaatattccaaa	17	12	5	7	0	1	0	0	0	1	0	2	2	2	2	2	2	2	0	2	2	8	7			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr8:38899534C>A	ENST00000487273.2	+	12	1278	c.1200C>A	c.(1198-1200)aaC>aaA	p.N400K		NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	400	Peptidase M12B.				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding	p.N400K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			AAGGAGGAAACTGCCTTCTTA	0.408													7	121					2.0095e-06	2.19458e-06	0.248553	1	0	A	38899534	C	A	38899534	3	1	11	1	0	0	0	0	1	0	0	0	252	564	20	4	1246	4	ADAM9	8	38899534	Missense_Mutation	SNP	C	TCGA-CH-5750-01A-11D-1576-08		38899534	107464488	30	502											
SOX17	64321	broad.mit.edu	37	chr8	55371662	55371662	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcggagaagcggcccttcGtggaggaggcagagcggctg	7	5	20	9	4	0	2	0	0	0	2	1	5	0	4	1	7	2	2	1	7	1	1			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr8:55371662G>A	ENST00000297316.4	+	2	556	c.352G>A	c.(352-354)Gtg>Atg	p.V118M		NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	SRY (sex determining region Y)-box 17	118					angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	p.V118M(1)		endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			GCGGCCCTTCGTGGAGGAGGC	0.687													4	7					0	0	0.217242	0	0	A	55371662	G	A	55371662	3	1	11	1	0	0	0	0	1	0	0	0	15001	1145	40	1	358	1	SOX17	8	55371662	Missense_Mutation	SNP	G	TCGA-CH-5750-01A-11D-1576-08	16472128	55371662	90992360	31	503											
CSMD3	114788	broad.mit.edu	37	chr8	113657357	113657357	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttttccatgggttacatcAacagtccatgtacaattcag	11	13	6	11	0	2	0	2	0	0	0	4	0	4	0	3	1	3	2	3	1	4	5			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr8:113657357A>T	ENST00000297405.5	-	20	3535	c.3291T>A	c.(3289-3291)gtT>gtA	p.V1097V	CSMD3_ENST00000352409.3_Silent_p.V1097V|CSMD3_ENST00000455883.2_Silent_p.V993V|CSMD3_ENST00000343508.3_Silent_p.V1057V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1097	CUB 6.					integral to membrane|plasma membrane		p.V1097V(2)|p.V1057V(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GGGTTACATCAACAGTCCATG	0.363										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			4	112					0	0	0.150653	0	0	T	113657357	A	T	113657357	2	4	11	1	0	0	0	0	0	0	0	1	3971	117	5	5		5	CSMD3	8	113657357	Silent	SNP	A	TCGA-CH-5750-01A-11D-1576-08	58285695	113657357	32706665	32	504											
GOLM1	51280	broad.mit.edu	37	chr9	88650293	88650293	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacacccaccttccccggcAgcttcctgctcctcctcctg	4	10	5	22	1	1	0	1	0	0	0	6	0	6	0	8	1	2	3	8	1	0	2			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr9:88650293A>G	ENST00000388712.3	-	8	1173	c.1005T>C	c.(1003-1005)gcT>gcC	p.A335A	GOLM1_ENST00000388711.3_Silent_p.A335A	NM_016548.3	NP_057632.2	Q8NBJ4	GOLM1_HUMAN	golgi membrane protein 1	335						Golgi apparatus|integral to plasma membrane		p.A335A(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						CTTCCCCGGCAGCTTCCTGCT	0.622											OREG0019278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	180					0	0	0.217242	0	0	G	88650293	A	G	88650293	2	3	11	1	0	0	0	0	0	0	0	1	6606	175	7	3		3	GOLM1	9	88650293	Silent	SNP	A	TCGA-CH-5750-01A-11D-1576-08		88650293	52563138	33	505											
TBC1D2	55357	broad.mit.edu	37	chr9	100971252	100971252	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcagtagctgcttgagctcGgctgagggcacaagatcgcc	8	7	14	12	3	0	3	0	2	0	1	2	3	0	3	1	2	3	7	1	2	2	2			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr9:100971252G>A	ENST00000375066.5	-	9	1939	c.1848C>T	c.(1846-1848)gcC>gcT	p.A616A	TBC1D2_ENST00000375063.1_Silent_p.A156A|TBC1D2_ENST00000375064.1_Silent_p.A616A|TBC1D2_ENST00000342112.5_Silent_p.A398A|TBC1D2_ENST00000493589.2_5'UTR	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	616						cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity	p.A616A(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		GCTTGAGCTCGGCTGAGGGCA	0.667													5	147					0	0	0.184627	0	0	A	100971252	G	A	100971252	2	1	11	1	0	0	0	0	0	0	0	1	15665	1103	39	1		1	TBC1D2	9	100971252	Silent	SNP	G	TCGA-CH-5750-01A-11D-1576-08	12320959	100971252	40242179	34	506											
KIF12	113220	broad.mit.edu	37	chr9	116858374	116858374	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctgttagcctcaagcatCagctccccacgggatcccgt	8	9	9	15	2	2	0	2	0	0	0	4	1	4	1	4	1	4	4	4	1	2	1			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr9:116858374C>A	ENST00000374118.3	-	6	675	c.438G>T	c.(436-438)ctG>ctT	p.L146L	KIF12_ENST00000473174.1_Intron	NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN	kinesin family member 12	279	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.L146L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						CCTCAAGCATCAGCTCCCCAC	0.622													33	147					1.69901e-12	1.93175e-12	0.812448	1	0	A	116858374	C	A	116858374	2	1	11	1	0	0	0	0	0	0	0	1	8315	813	29	4		4	KIF12	9	116858374	Silent	SNP	C	TCGA-CH-5750-01A-11D-1576-08	15887122	116858374	24355057	35	507											
FAM171A1	221061	broad.mit.edu	37	chr10	15317865	15317865	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taaatataccttggaatcctGatactatttggacgacatct	13	14	6	8	1	1	1	0	1	1	0	2	4	2	3	2	2	2	0	2	2	7	7			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr10:15317865G>A	ENST00000378116.4	-	3	413	c.407C>T	c.(406-408)tCa>tTa	p.S136L		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	136						integral to membrane		p.S136L(2)		breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TTGGAATCCTGATACTATTTG	0.343													19	92					0	0	0.557998	0	0	A	15317865	G	A	15317865	3	1	11	1	0	0	0	0	1	0	0	0	5520	1294	45	2	2289	2	FAM171A1	10	15317865	Missense_Mutation	SNP	G	TCGA-CH-5750-01A-11D-1576-08		15317865	120216882	36	508											
NCOA4	8031	broad.mit.edu	37	chr10	51584845	51584845	+	Missense_Mutation	SNP	G	G	A																															ccaggaatcccataagctgcGgaagcctgagaatggcagtc																								rs144343467		TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr10:51584845G>A	ENST00000452682.1	+	9	1244	c.992G>A	c.(991-993)cGg>cAg	p.R331Q	NCOA4_ENST00000438493.1_Missense_Mutation_p.R331Q|NCOA4_ENST00000443446.1_Missense_Mutation_p.R315Q|NCOA4_ENST00000344348.6_Missense_Mutation_p.R315Q|NCOA4_ENST00000414907.2_Missense_Mutation_p.R149Q|NCOA4_ENST00000430396.2_Missense_Mutation_p.R215Q|NCOA4_ENST00000374087.4_Missense_Mutation_p.R315Q|NCOA4_ENST00000374082.1_Missense_Mutation_p.R315Q	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	315					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity	p.R331Q(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						CATAAGCTGCGGAAGCCTGAG	0.453			T	RET	papillary thyroid								6	165					0	0	0.248553	0	0	A	51584845	G	A	51584845	3	1	11	1	0	0	0	0	1	0	0	0	10278	1116	39	1	1022	1	NCOA4	10	51584845	Missense_Mutation	SNP	G	TCGA-CH-5750-01A-11D-1576-08	36266980	51584845	83949902	37	509	2	2									
NCOA4	8031	broad.mit.edu	37	chr10	51584846	51584846	+	Silent	SNP	G	G	A																															caggaatcccataagctgcgGaagcctgagaatggcagtcg																										TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr10:51584846G>A	ENST00000452682.1	+	9	1245	c.993G>A	c.(991-993)cgG>cgA	p.R331R	NCOA4_ENST00000438493.1_Silent_p.R331R|NCOA4_ENST00000443446.1_Silent_p.R315R|NCOA4_ENST00000344348.6_Silent_p.R315R|NCOA4_ENST00000414907.2_Silent_p.R149R|NCOA4_ENST00000430396.2_Silent_p.R215R|NCOA4_ENST00000374087.4_Silent_p.R315R|NCOA4_ENST00000374082.1_Silent_p.R315R	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	315					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity	p.R331R(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						ATAAGCTGCGGAAGCCTGAGA	0.453			T	RET	papillary thyroid								6	164					0	0	0.248553	0	0	A	51584846	G	A	51584846	2	1	11	1	0	0	0	0	0	0	0	1	10278	1161	41	2		2	NCOA4	10	51584846	Silent	SNP	G	TCGA-CH-5750-01A-11D-1576-08	1	51584846	83949901	38	510	2	2									
OR10G8	219869	broad.mit.edu	37	chr11	123900990	123900990	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgtcctatgtgtccatcGtctgttccatcctgcggatc	4	15	9	13	2	1	0	0	0	1	0	7	1	5	1	4	1	2	2	4	1	1	2			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr11:123900990G>A	ENST00000431524.1	+	1	694	c.661G>A	c.(661-663)Gtc>Atc	p.V221I		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V221I(1)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TGTGTCCATCGTCTGTTCCAT	0.542													11	183					0	0	0.38729	0	0	A	123900990	G	A	123900990	3	1	11	1	0	0	0	0	1	0	0	0	10951	1145	40	1	663	1	OR10G8	11	123900990	Missense_Mutation	SNP	G	TCGA-CH-5750-01A-11D-1576-08		123900990	11105526	39	511											
FGD4	121512	broad.mit.edu	37	chr12	32764089	32764089	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggagaacctaaagaaactcTtagagatttatgaaatgttg	17	11	9	4	0	1	4	0	1	1	3	1	6	1	4	1	1	2	1	1	1	7	5			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr12:32764089T>C	ENST00000427716.2	+	10	1634	c.1210T>C	c.(1210-1212)Tta>Cta	p.L404L	FGD4_ENST00000525053.1_Silent_p.L516L|FGD4_ENST00000381025.3_Silent_p.L156L|FGD4_ENST00000531134.1_Silent_p.L489L|FGD4_ENST00000534526.2_Silent_p.L541L|FGD4_ENST00000546442.1_Silent_p.L311L|FGD4_ENST00000266482.3_Silent_p.L156L	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	404					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	p.L404L(2)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					AAAGAAACTCTTAGAGATTTA	0.353													4	196					0	0	0.184627	0	0	C	32764089	T	C	32764089	2	2	11	1	0	0	0	0	0	0	0	1	5868	1606	56	3		3	FGD4	12	32764089	Silent	SNP	T	TCGA-CH-5750-01A-11D-1576-08		32764089	101087806	40	512											
PIWIL1	9271	broad.mit.edu	37	chr12	130845793	130845793	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaaaatacctgtgtacagaTtgccctaccccaagtcagtg	14	9	7	11	0	1	1	1	0	0	1	1	1	1	1	4	0	4	1	4	0	7	4			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr12:130845793T>G	ENST00000245255.3	+	15	2006	c.1734T>G	c.(1732-1734)gaT>gaG	p.D578E		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	578	Piwi.|RNA-binding (By similarity).				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	p.D578E(1)		breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		TGTGTACAGATTGCCCTACCC	0.433													30	76					0	0	0.717897	0	0	G	130845793	T	G	130845793	3	3	11	1	0	0	0	0	1	0	0	0	12005	1490	52	5	1788	5	PIWIL1	12	130845793	Missense_Mutation	SNP	T	TCGA-CH-5750-01A-11D-1576-08	98081704	130845793	3006102	41	513											
LATS2	26524	broad.mit.edu	37	chr13	21557700	21557700	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcggccaggatgtccctctcGgccttgacgtgggccacctg	4	9	13	15	3	1	1	0	1	1	0	4	2	2	2	5	4	0	0	5	4	0	1			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr13:21557700G>A	ENST00000382592.4	-	5	2550	c.2145C>T	c.(2143-2145)gcC>gcT	p.A715A	LATS2_ENST00000542899.1_Silent_p.A715A	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	715	Protein kinase.				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.A715A(2)		breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		TGTCCCTCTCGGCCTTGACGT	0.532													11	332					0	0	0.38729	0	0	A	21557700	G	A	21557700	2	1	11	1	0	0	0	0	0	0	0	1	8686	1103	39	1		1	LATS2	13	21557700	Silent	SNP	G	TCGA-CH-5750-01A-11D-1576-08		21557700	93612178	42	514											
ABCC4	10257	broad.mit.edu	37	chr13	95862980	95862980	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcacatcattggacagcagaTtgactatctggcctgtggtt	9	13	10	9	0	3	2	2	1	1	1	3	3	3	3	1	3	1	2	1	3	1	4			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr13:95862980T>C	ENST00000376887.4	-	5	701	c.587A>G	c.(586-588)aAt>aGt	p.N196S	ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000536256.1_Missense_Mutation_p.N121S|ABCC4_ENST00000431522.1_Missense_Mutation_p.N196S|ABCC4_ENST00000412704.1_Missense_Mutation_p.N196S	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	196	ABC transmembrane type-1 1.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	p.N196S(3)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	GGACAGCAGATTGACTATCTG	0.418													12	86					0	0	0.435327	0	0	C	95862980	T	C	95862980	3	2	11	1	0	0	0	0	1	0	0	0	55	1493	52	3	3547	3	ABCC4	13	95862980	Missense_Mutation	SNP	T	TCGA-CH-5750-01A-11D-1576-08	74305280	95862980	19306898	43	515											
HERC2	8924	broad.mit.edu	37	chr15	28387490	28387490	+	Frame_Shift_Del	DEL	C	C	-																															cccacttgtgcgtctcggcaCagcaaggcagagtgtccagc																										TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr15:28387490delC	ENST00000261609.7	-	76	11702	c.11594delG	c.(11593-11595)ttfs	p.C3865fs		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3865					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CGTCTCGGCACAGCAAGGCAG	0.547													8	51	---	---	---	---						-	28387490	C	-	28387490	7	5	11	1	0	1	0	1	0	0	0	0	7099	478	17	0	2982	0	HERC2	15	28387490	Frame_Shift_Del	DEL	C	TCGA-CH-5750-01A-11D-1576-08		28387490	74143902	44	516											
HERC1	8925	broad.mit.edu	37	chr15	63978653	63978653	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatctgtccattctccactaGgcaacactgagctttctccg	9	12	6	14	1	3	1	0	1	3	0	6	1	4	1	3	1	2	2	3	1	3	3			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr15:63978653G>C	ENST00000443617.2	-	34	6217	c.6130C>G	c.(6130-6132)Cta>Gta	p.L2044V	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2044	B30.2/SPRY.				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	p.L2044V(3)		NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TTCTCCACTAGGCAACACTGA	0.473													7	439					0	0	0.307466	0	0	C	63978653	G	C	63978653	3	2	11	1	0	0	0	0	1	0	0	0	7098	991	35	4	8635	4	HERC1	15	63978653	Missense_Mutation	SNP	G	TCGA-CH-5750-01A-11D-1576-08	35591163	63978653	38552739	45	517											
TMC7	79905	broad.mit.edu	37	chr16	19041572	19041572	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctggaggaaactagcctcttTtacggacattacaccattga	12	11	8	10	1	1	1	0	1	1	0	1	4	1	4	2	3	4	0	2	3	4	5			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr16:19041572T>C	ENST00000421369.3	+	6	966	c.408T>C	c.(406-408)ttT>ttC	p.F136F	TMC7_ENST00000304381.5_Silent_p.F246F|TMC7_ENST00000569532.1_Silent_p.F246F	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	246						integral to membrane		p.F246F(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						CTAGCCTCTTTTACGGACATT	0.507													7	283					0	0	0.307466	0	0	C	19041572	T	C	19041572	2	2	11	1	0	0	0	0	0	0	0	1	16050	1838	64	3		3	TMC7	16	19041572	Silent	SNP	T	TCGA-CH-5750-01A-11D-1576-08		19041572	71313181	46	518											
SRCAP	10847	broad.mit.edu	37	chr16	30732660	30732666	+	Frame_Shift_Del	DEL	CAGGCTA	CAGGCTA	-																															gaagcccctgacagtgccacCaggctacaccttccctcctg																										TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr16:30732660_30732666delCAGGCTA	ENST00000262518.4	+	21	3789_3795	c.3404_3410delCAGGCTA	c.(3403-3411)ccfs	p.PGY1135fs	SRCAP_ENST00000344771.4_Intron|SRCAP_ENST00000395059.2_Frame_Shift_Del_p.PGY1135fs	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1135	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			ACAGTGCCACCAGGCTACACCTTCCCT	0.623													10	202	---	---	---	---						-	30732666	CAGGCTA	-	30732660	7	5	11	1	0	1	0	1	0	0	0	0	15191	594	21	0	3478	0	SRCAP	16	30732660	Frame_Shift_Del	DEL	CAGGCTA	TCGA-CH-5750-01A-11D-1576-08	11691088	30732660	59622093	47	519											
SLC5A2	6524	broad.mit.edu	37	chr16	31499068	31499068	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atcgtctcgggctggtactgGtgcagcgaccaggtgcgggt	5	9	17	10	4	1	0	0	0	1	0	3	1	1	0	1	5	4	3	1	5	1	1			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr16:31499068G>A	ENST00000330498.3	+	7	892	c.873G>A	c.(871-873)tgG>tgA	p.W291*	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	291					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity	p.W291*(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						GCTGGTACTGGTGCAGCGACC	0.721													10	33					0	0	0.361761	0	0	A	31499068	G	A	31499068	4	1	11	1	0	0	0	0	0	1	0	0	14720	1270	44	2	899	2	SLC5A2	16	31499068	Nonsense_Mutation	SNP	G	TCGA-CH-5750-01A-11D-1576-08	766408	31499068	58855685	48	520											
PRPF8	10594	broad.mit.edu	37	chr17	1559946	1559946	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccccaccctcttacctccAgtgggtccagcatgcccttc	6	9	6	20	0	1	0	0	0	1	0	4	0	3	0	7	1	3	1	7	1	1	2			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr17:1559946A>C	ENST00000572621.1	-	34	5880	c.5615T>G	c.(5614-5616)cTg>cGg	p.L1872R	PRPF8_ENST00000304992.6_Missense_Mutation_p.L1872R			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1872	Involved in interaction with pre-mRNA 5' splice site.					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	p.L1872R(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TCTTACCTCCAGTGGGTCCAG	0.552													24	40					0	0	0.667858	0	0	C	1559946	A	C	1559946	3	2	11	1	0	0	0	0	1	0	0	0	12627	188	7	5	1428	5	PRPF8	17	1559946	Missense_Mutation	SNP	A	TCGA-CH-5750-01A-11D-1576-08		1559946	79635264	49	521											
RTN4RL1	146760	broad.mit.edu	37	chr17	1840948	1840948	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctgcaggaagacgcgctcGctgtccacggggatgccctc	6	8	13	14	4	1	1	0	0	1	1	4	3	2	3	2	3	2	3	2	3	1	1			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr17:1840948G>A	ENST00000331238.5	-	2	186	c.168C>T	c.(166-168)agC>agT	p.S56S		NM_178568.2	NP_848663.1	Q86UN2	R4RL1_HUMAN	reticulon 4 receptor-like 1	56					axon regeneration	anchored to plasma membrane	receptor activity	p.S56S(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						AGACGCGCTCGCTGTCCACGG	0.652													4	54					0	0	0.150653	0	0	A	1840948	G	A	1840948	2	1	11	1	0	0	0	0	0	0	0	1	13783	1078	38	1		1	RTN4RL1	17	1840948	Silent	SNP	G	TCGA-CH-5750-01A-11D-1576-08	281002	1840948	79354262	50	522											
XAF1	54739	broad.mit.edu	37	chr17	6673970	6673970	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcacaattgcagggtaaatgTtgtccagactcagagtttaa	13	12	9	7	0	2	2	2	0	0	2	3	2	3	2	1	1	1	4	1	1	4	5			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr17:6673970T>C	ENST00000361842.3	+	6	755	c.516T>C	c.(514-516)tgT>tgC	p.C172C	XAF1_ENST00000441631.1_Silent_p.C172C|XAF1_ENST00000346752.4_Silent_p.C153C	NM_017523.3	NP_059993.2	Q6GPH4	XAF1_HUMAN	XIAP associated factor 1	172					apoptosis|type I interferon-mediated signaling pathway	mitochondrion|nucleus	zinc ion binding	p.C172C(1)		large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	6						AGGGTAAATGTTGTCCAGACT	0.348													7	187					0	0	0.248553	0	0	C	6673970	T	C	6673970	2	2	11	1	0	0	0	0	0	0	0	1	17479	1731	60	3		3	XAF1	17	6673970	Silent	SNP	T	TCGA-CH-5750-01A-11D-1576-08	4833022	6673970	74521240	51	523											
GH2	2689	broad.mit.edu	37	chr17	61958402	61958402	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactcacagatttctgctgcGttttcaccctgttggaaggt	7	14	9	11	1	3	1	2	0	1	1	3	2	3	2	1	2	2	3	1	2	1	4			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr17:61958402G>A	ENST00000332800.7	-	3	411	c.278C>T	c.(277-279)aCg>aTg	p.T93M	GH2_ENST00000449787.2_Missense_Mutation_p.T78M|GH2_ENST00000423893.2_Missense_Mutation_p.T93M|GH2_ENST00000456543.2_Missense_Mutation_p.T93M	NM_002059.4|NM_022557.3|NM_022558.3	NP_002050.1|NP_072051.1|NP_072052.1	P01242	SOM2_HUMAN	growth hormone 2	93						extracellular region	hormone activity	p.T93M(6)		breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						TTTCTGCTGCGTTTTCACCCT	0.572													82	364					0	0	0.870114	0	0	A	61958402	G	A	61958402	3	1	11	1	0	0	0	0	1	0	0	0	6410	1145	40	1	724	1	GH2	17	61958402	Missense_Mutation	SNP	G	TCGA-CH-5750-01A-11D-1576-08	55284432	61958402	19236808	52	524											
ENGASE	64772	broad.mit.edu	37	chr17	77073870	77073870	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccctggagcccctggcgtgtCgccagccccctctgagcagc	4	6	12	19	2	1	1	0	1	1	0	2	2	1	2	6	2	4	1	6	2	0	0			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr17:77073870C>T	ENST00000579016.1	+	3	340	c.340C>T	c.(340-342)Cgc>Tgc	p.R114C	ENGASE_ENST00000539857.2_5'UTR	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	114						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity	p.R114C(1)		breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						CCTGGCGTGTCGCCAGCCCCC	0.582													44	69					0	0	0.834066	0	0	T	77073870	C	T	77073870	3	4	11	1	0	0	0	0	1	0	0	0	5146	884	31	1	350	1	ENGASE	17	77073870	Missense_Mutation	SNP	C	TCGA-CH-5750-01A-11D-1576-08	15115468	77073870	4121340	53	525											
S1PR2	9294	broad.mit.edu	37	chr19	10335297	10335297	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgtcagcctcagcgtgacAgagccagagagcaaggtatt	11	6	14	10	2	2	3	2	1	0	2	2	4	2	3	2	2	4	2	2	2	2	2			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr19:10335297A>T	ENST00000590320.1	-	2	395	c.285T>A	c.(283-285)tcT>tcA	p.S95S		NM_004230.3	NP_004221.3	O95136	S1PR2_HUMAN	sphingosine-1-phosphate receptor 2	95					activation of MAPK activity|positive regulation of cell proliferation	integral to membrane|plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	p.S95S(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						TCAGCGTGACAGAGCCAGAGA	0.612													9	42					0	0	0.411799	0	0	T	10335297	A	T	10335297	2	4	11	1	0	0	0	0	0	0	0	1	13846	175	7	5		5	S1PR2	19	10335297	Silent	SNP	A	TCGA-CH-5750-01A-11D-1576-08		10335297	48793686	54	526											
C19orf53	28974	broad.mit.edu	37	chr19	13888971	13888971	+	Frame_Shift_Del	DEL	A	A	-																															tgaaggccccagccaagaagAaaggggcagctgccgccacc																										TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr19:13888971delA	ENST00000588234.1	+	3	569	c.259delA	c.(259-261)aafs	p.K87fs	C19orf53_ENST00000593274.1_Frame_Shift_Del_p.K44fs	NM_014047.2	NP_054766.1	Q9UNZ5	L10K_HUMAN	chromosome 19 open reading frame 53	87										breast(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	6			OV - Ovarian serous cystadenocarcinoma(19;7.7e-24)|Epithelial(5;2.53e-19)			AGCCAAGAAGAAAGGGGCAGC	0.597													26	66	---	---	---	---						-	13888971	A	-	13888971	7	5	11	1	0	1	0	1	0	0	0	0	1947	247	9	0	269	0	C19orf53	19	13888971	Frame_Shift_Del	DEL	A	TCGA-CH-5750-01A-11D-1576-08	3553674	13888971	45240012	55	527											
PSG3	5671	broad.mit.edu	37	chr19	43233960	43233960	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagggtgactgggtaactgcGgatgccaccatatcggtcct	8	9	13	11	2	0	1	0	1	0	0	2	2	1	2	3	4	3	1	3	4	2	2			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr19:43233960G>A	ENST00000327495.5	-	4	1142	c.958C>T	c.(958-960)Cgc>Tgc	p.R320C	PSG3_ENST00000595140.1_Missense_Mutation_p.R320C	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	320	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region		p.R320C(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GGGTAACTGCGGATGCCACCA	0.488													7	293					0	0	0.248553	0	0	A	43233960	G	A	43233960	3	1	11	1	0	0	0	0	1	0	0	0	12705	1116	39	1	340	1	PSG3	19	43233960	Missense_Mutation	SNP	G	TCGA-CH-5750-01A-11D-1576-08	29344989	43233960	15895023	56	528											
LILRA3	0	broad.mit.edu	37	chr19	54803046	54803046	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagccccaggagatcactggGtagagaccacacatagggag	13	4	14	10	0	1	2	1	0	0	2	1	6	1	3	3	3	1	1	3	3	2	2			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr19:54803046G>C	ENST00000391745.1	-	8	998	c.682C>G	c.(682-684)Ccc>Gcc	p.P228A	LILRA3_ENST00000391744.3_Intron|LILRA3_ENST00000251390.3_Missense_Mutation_p.P211A					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3									p.P211A(1)		NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AGATCACTGGGTAGAGACCAC	0.617													4	77					0	0	0.150653	0	0	C	54803046	G	C	54803046	3	2	11	1	0	0	0	0	1	0	0	0	8826	1261	44	4	704	4	LILRA3	19	54803046	Missense_Mutation	SNP	G	TCGA-CH-5750-01A-11D-1576-08	11569086	54803046	4325937	57	529											
DIDO1	11083	broad.mit.edu	37	chr20	61525227	61525227	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggtcctggggtcccggccGgacactgtgacggtggtgac	4	7	18	12	4	0	2	0	2	0	0	2	3	2	3	3	7	0	0	3	7	0	0	rs111520535	byFrequency	TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr20:61525227G>A	ENST00000266070.4	-	12	3217	c.2892C>T	c.(2890-2892)tcC>tcT	p.S964S	DIDO1_ENST00000395335.2_Silent_p.S964S|DIDO1_ENST00000395340.1_Silent_p.S964S|DIDO1_ENST00000395343.1_Silent_p.S964S	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	964					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	p.S964S(1)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GGTCCCGGCCGGACACTGTGA	0.687													4	138					0	0	0.150653	0	0	A	61525227	G	A	61525227	2	1	11	1	0	0	0	0	0	0	0	1	4550	1103	39	1		1	DIDO1	20	61525227	Silent	SNP	G	TCGA-CH-5750-01A-11D-1576-08		61525227	1500293	58	530											
B3GALT5	10317	broad.mit.edu	37	chr21	41032741	41032741	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgtgggggaaagagaggatGgtgaagggaaagcagctgaa	15	4	19	3	1	0	3	0	2	0	1	0	7	0	6	0	5	2	2	0	5	4	0			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr21:41032741G>C	ENST00000380620.3	+	5	847	c.255G>C	c.(253-255)atG>atC	p.M85I	B3GALT5_ENST00000343118.4_Missense_Mutation_p.M85I|B3GALT5_ENST00000380618.1_Missense_Mutation_p.M85I|B3GALT5_ENST00000398714.2_Missense_Mutation_p.M85I|AF064860.5_ENST00000416555.1_RNA			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5	85			M -> T (in dbSNP:rs3746887).		protein glycosylation	endoplasmic reticulum|Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	p.M85I(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				AAGAGAGGATGGTGAAGGGAA	0.602													4	101					0	0	0.150653	0	0	C	41032741	G	C	41032741	3	2	11	1	0	0	0	0	1	0	0	0	1248	1348	47	4	257	4	B3GALT5	21	41032741	Missense_Mutation	SNP	G	TCGA-CH-5750-01A-11D-1576-08		41032741	7097154	59	531											
EFCAB6	64800	broad.mit.edu	37	chr22	44022442	44022442	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccaagaaggccaaggaagcGctcaaactcgtcgtctttga	12	7	11	11	3	2	2	1	1	1	1	4	3	2	3	2	2	2	1	2	2	5	1			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chr22:44022442G>A	ENST00000262726.7	-	20	2603	c.2350C>T	c.(2350-2352)Cgc>Tgc	p.R784C	EFCAB6_ENST00000396231.2_Missense_Mutation_p.R632C	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	784					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	p.R784C(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CCAAGGAAGCGCTCAAACTCG	0.438													30	128					0	0	0.729181	0	0	A	44022442	G	A	44022442	3	1	11	1	0	0	0	0	1	0	0	0	4965	1087	38	1	2207	1	EFCAB6	22	44022442	Missense_Mutation	SNP	G	TCGA-CH-5750-01A-11D-1576-08		44022442	7282124	60	532											
MAGEC3	139081	broad.mit.edu	37	chrX	140985038	140985038	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gactattttcccatgatcttCgggaaagcccatgagttcat	10	13	8	10	1	2	2	1	2	1	0	4	4	3	3	2	1	1	1	2	1	2	5			TCGA-CH-5750-01A-11D-1576-08	TCGA-CH-5750-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1b169c3-44e0-43e5-9ee3-2df7a678a5ea	69ebe1ab-c416-4473-8d82-91b475b206d4	g.chrX:140985038C>T	ENST00000298296.1	+	7	1494	c.1494C>T	c.(1492-1494)ttC>ttT	p.F498F	MAGEC3_ENST00000536088.1_Silent_p.F200F|MAGEC3_ENST00000443323.2_Silent_p.F120F|MAGEC3_ENST00000544766.1_Silent_p.F200F|MAGEC3_ENST00000409007.1_Silent_p.F200F	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	498	MAGE 2.							p.F498F(1)|p.F200F(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					CCATGATCTTCGGGAAAGCCC	0.423													10	180					0	0	0.38729	0	0	T	140985038	C	T	140985038	2	4	11	1	0	0	0	0	0	0	0	1	9232	883	31	1		1	MAGEC3	23	140985038	Silent	SNP	C	TCGA-CH-5750-01A-11D-1576-08		140985038	14285522	61	533											
GBP7	388646	broad.mit.edu	37	chr1	89630482	89630482	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtttggcttggaggggtgggGcacacaccacatccagatgc	8	8	15	10	0	0	1	0	0	0	1	1	2	1	2	2	6	1	3	2	6	0	2	rs146946502		TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr1:89630482G>A	ENST00000294671.2	-	3	388	c.250C>T	c.(250-252)Ccc>Tcc	p.P84S		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	84						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		GAGGGGTGGGGCACACACCAC	0.498													4	90					0	0	1	0	0	A	89630482	G	A	89630482	3	1	12	1	0	0	0	0	1	0	0	0	6319	1203	42	2	1702	2	GBP7	1	89630482	Missense_Mutation	SNP	G	TCGA-CH-5751-01A-11D-1576-08		89630482	159620139	1	534											
TRIM33	51592	broad.mit.edu	37	chr1	115005788	115005788	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatctatcacatgtttcacaGaaaagtttcaactgttcttg	13	15	5	8	0	5	1	3	0	2	1	5	1	5	1	0	0	1	3	0	0	5	5			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr1:115005788G>A	ENST00000358465.2	-	4	944	c.861C>T	c.(859-861)ttC>ttT	p.F287F	TRIM33_ENST00000450349.2_5'UTR|TRIM33_ENST00000369543.2_Silent_p.F287F	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	287					negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding	p.F287F(2)		breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATGTTTCACAGAAAAGTTTCA	0.353			T	RET	papillary thyroid								5	74					0	0	1	0	0	A	115005788	G	A	115005788	2	1	12	1	0	0	0	0	0	0	0	1	16568	933	33	2		2	TRIM33	1	115005788	Silent	SNP	G	TCGA-CH-5751-01A-11D-1576-08	25375306	115005788	134244833	2	535											
ITGA10	8515	broad.mit.edu	37	chr1	145530284	145530284	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	taggctgcccaacatacatgGatgttgtcattgtcttggat	9	14	10	8	0	2	0	1	0	1	0	2	2	2	2	1	3	3	2	1	3	3	5			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr1:145530284G>T	ENST00000369304.3	+	6	674	c.499G>T	c.(499-501)Gat>Tat	p.D167Y	ITGA10_ENST00000539363.1_Missense_Mutation_p.D24Y|ITGA10_ENST00000538811.1_Missense_Mutation_p.D36Y	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	167	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	p.D167Y(2)		NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AACATACATGGATGTTGTCAT	0.498													7	205					0.00448238	0.00481441	1	1	0	T	145530284	G	T	145530284	3	4	12	1	0	0	0	0	1	0	0	0	7917	1174	41	4	521	4	ITGA10	1	145530284	Missense_Mutation	SNP	G	TCGA-CH-5751-01A-11D-1576-08	30524496	145530284	103720337	3	536											
ETV3	2117	broad.mit.edu	37	chr1	157104016	157104017	+	Frame_Shift_Ins	INS	-	-	T																															ggatcctcttgttgtaatagINStatctgtaaaaacaggaata																										TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr1:157104016_157104017insT	ENST00000368192.4	-	4	351_352	c.287_288insA	c.(286-288)ttafs	p.L96fs	ETV3_ENST00000326786.4_Frame_Shift_Ins_p.L96fs	NM_001145312.1	NP_001138784.1	P41162	ETV3_HUMAN	ets variant 3	96							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	9	Hepatocellular(266;0.158)	Prostate(1639;0.174)				TGTTGTAATAGTATCTGTAAAA	0.371													46	39	---	---	---	---						T	157104017	-	T	157104016	7	5	12	1	0	1	1	0	0	0	0	0	5307	1024	36	0	1290	0	ETV3	1	157104016	Frame_Shift_Ins	INS	-	TCGA-CH-5751-01A-11D-1576-08	11573732	157104016	92146605	4	537											
TTN	7273	broad.mit.edu	37	chr2	179426189	179426189	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatacacgatactcatacaTcagtccttcatcaaggccgg	13	10	6	12	2	4	0	4	0	0	0	5	1	5	0	2	2	3	0	2	2	5	5			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr2:179426189T>G	ENST00000589042.1	-	326	84894	c.84670A>C	c.(84670-84672)Atg>Ctg	p.M28224L	TTN_ENST00000359218.5_Missense_Mutation_p.M19284L|TTN_ENST00000342992.6_Missense_Mutation_p.M25656L|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.M19351L|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.M26583L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.M19159L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26583	Ig-like 131.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.M19159L(2)|p.M19351L(1)|p.M25656L(1)|p.M19284L(1)|p.M25654L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TACTCATACATCAGTCCTTCA	0.398													74	149					0	0	1	0	0	G	179426189	T	G	179426189	3	3	12	1	0	0	0	0	1	0	0	0	16797	1435	50	5	23457	5	TTN	2	179426189	Missense_Mutation	SNP	T	TCGA-CH-5751-01A-11D-1576-08		179426189	63773184	5	538											
KLHL18	23276	broad.mit.edu	37	chr3	47361170	47361170	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accacaaattcagtgcccacCggattgtcttagcagcctcg	10	9	8	14	2	2	0	1	0	1	0	3	1	2	1	4	1	3	1	4	1	2	3			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr3:47361170C>T	ENST00000232766.5	+	2	177	c.157C>T	c.(157-159)Cgg>Tgg	p.R53W	KLHL18_ENST00000455924.2_Intron	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	53								p.R53W(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		CAGTGCCCACCGGATTGTCTT	0.418													60	170					0	0	1	0	0	T	47361170	C	T	47361170	3	4	12	1	0	0	0	0	1	0	0	0	8416	643	23	1	163	1	KLHL18	3	47361170	Missense_Mutation	SNP	C	TCGA-CH-5751-01A-11D-1576-08		47361170	150661260	6	539											
TMPRSS7	344805	broad.mit.edu	37	chr3	111795794	111795794	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatgccaagtttgtctcccCggtgagaagaattgtggtcc	9	11	12	9	1	1	2	0	1	1	2	3	4	2	2	4	2	1	1	4	2	4	2			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr3:111795794C>T	ENST00000452346.2	+	16	2030	c.2027C>T	c.(2026-2028)cCg>cTg	p.P676L	TMPRSS7_ENST00000419127.1_Missense_Mutation_p.P550L			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	676	Peptidase S1.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity	p.P405L(1)|p.P550L(1)		breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TTTGTCTCCCCGGTGAGAAGA	0.453													121	215					0	0	1	0	0	T	111795794	C	T	111795794	3	4	12	1	0	0	0	0	1	0	0	0	16312	652	23	1	1699	1	TMPRSS7	3	111795794	Missense_Mutation	SNP	C	TCGA-CH-5751-01A-11D-1576-08	64434624	111795794	86226636	7	540											
ZIC1	7545	broad.mit.edu	37	chr3	147128521	147128521	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtgaacatggccgcgcatCacggcgccggcgccttcttc	6	7	12	16	7	2	1	1	1	1	0	3	1	2	1	3	3	1	1	3	3	1	2			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr3:147128521C>A	ENST00000282928.4	+	1	1351	c.622C>A	c.(622-624)Cac>Aac	p.H208N		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	208					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.H208N(1)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GGCCGCGCATCACGGCGCCGG	0.642													15	64					6.31663e-08	7.32729e-08	1	1	0	A	147128521	C	A	147128521	3	1	12	1	0	0	0	0	1	0	0	0	17736	826	29	4	624	4	ZIC1	3	147128521	Missense_Mutation	SNP	C	TCGA-CH-5751-01A-11D-1576-08	35332727	147128521	50893909	8	541											
P2RY1	5028	broad.mit.edu	37	chr3	152554551	152554551	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccattctctatttcttggCgggagatactttcagaagga	9	13	9	10	1	3	2	1	0	2	2	4	4	3	3	2	3	1	0	2	3	3	6			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr3:152554551C>T	ENST00000305097.3	+	1	1816	c.980C>T	c.(979-981)gCg>gTg	p.A327V		NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	327					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.A327V(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			TATTTCTTGGCGGGAGATACT	0.463													5	129					0	0	1	0	0	T	152554551	C	T	152554551	3	4	12	1	0	0	0	0	1	0	0	0	11393	768	27	1	982	1	P2RY1	3	152554551	Missense_Mutation	SNP	C	TCGA-CH-5751-01A-11D-1576-08	5426030	152554551	45467879	9	542											
SOD3	6649	broad.mit.edu	37	chr4	24801303	24801303	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggaggtcatgcagcggcggGacgacgacggcgcgctccac	8	3	17	13	7	1	0	1	0	0	0	2	4	2	2	1	5	2	2	1	5	0	0			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr4:24801303G>A	ENST00000382120.3	+	2	365	c.160G>A	c.(160-162)Gac>Aac	p.D54N		NM_003102.2	NP_003093.2	P08294	SODE_HUMAN	superoxide dismutase 3, extracellular	54					removal of superoxide radicals	extracellular space|nucleus|soluble fraction	copper ion binding|heparin binding|protein binding|superoxide dismutase activity|zinc ion binding	p.D54N(1)		prostate(1)|urinary_tract(1)	2		Breast(46;0.0503)				GCAGCGGCGGGACGACGACGG	0.716													14	8					0	0	1	0	0	A	24801303	G	A	24801303	3	1	12	1	0	0	0	0	1	0	0	0	14976	1174	41	2	162	2	SOD3	4	24801303	Missense_Mutation	SNP	G	TCGA-CH-5751-01A-11D-1576-08		24801303	166352973	10	543											
DHFR	1719	broad.mit.edu	37	chr5	79945228	79945232	+	Frame_Shift_Del	DEL	TAAAT	TAAAT	-																															ttgagttctctgctgagaacTaaattaattctaccctttaa																										TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr5:79945228_79945232delTAAAT	ENST00000439211.2	-	3	711_715	c.218_222delATTTA	c.(217-222)afs	p.NL73fs	DHFR_ENST00000504396.1_Frame_Shift_Del_p.NL21fs|DHFR_ENST00000505337.1_Frame_Shift_Del_p.NL73fs|DHFR_ENST00000511032.1_Frame_Shift_Del_p.NL73fs|DHFR_ENST00000513048.1_5'UTR	NM_000791.3	NP_000782.1	P00374	DYR_HUMAN	dihydrofolate reductase	73	DHFR.				folic acid metabolic process|glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to methotrexate|tetrahydrofolate metabolic process	cytosol	dihydrofolate reductase activity|drug binding|folate reductase activity|NADP binding			kidney(1)|large_intestine(1)	2		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.69e-46)|Epithelial(54;7.49e-41)|all cancers(79;1.54e-35)	Dapsone(DB00250)|Dimethyl sulfoxide(DB01093)|Lamotrigine(DB00555)|Methotrexate(DB00563)|NADH(DB00157)|Pemetrexed(DB00642)|Proguanil(DB01131)|Pyrimethamine(DB00205)|Trimethoprim(DB00440)|Trimetrexate(DB01157)	TGCTGAGAACTAAATTAATTCTACC	0.332													23	74	---	---	---	---						-	79945232	TAAAT	-	79945228	7	5	12	1	0	1	0	1	0	0	0	0	4509	1519	53	0	357	0	DHFR	5	79945228	Frame_Shift_Del	DEL	TAAAT	TCGA-CH-5751-01A-11D-1576-08		79945228	100970032	11	544											
SLCO6A1	133482	broad.mit.edu	37	chr5	101834316	101834316	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aactgtcatccacttctcccGgcttcttggaaactgaggac	9	11	8	13	1	3	1	1	1	2	0	5	3	4	3	2	3	2	1	2	3	2	3			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr5:101834316G>A	ENST00000506729.1	-	1	404	c.233C>T	c.(232-234)cCg>cTg	p.P78L	SLCO6A1_ENST00000379807.3_Missense_Mutation_p.P78L|SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.P78L|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.P78L|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.P78L			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	78				KPG -> NRE (in Ref. 1; AAP33048).		integral to membrane|plasma membrane	transporter activity	p.P78L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CACTTCTCCCGGCTTCTTGGA	0.488													55	242					0	0	1	0	0	A	101834316	G	A	101834316	3	1	12	1	0	0	0	0	1	0	0	0	14787	1116	39	1	1978	1	SLCO6A1	5	101834316	Missense_Mutation	SNP	G	TCGA-CH-5751-01A-11D-1576-08	21889088	101834316	79080944	12	545											
PCDHGC4	0	broad.mit.edu	37	chr5	140865886	140865886	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatccagactcagggtcaaaCggagatgtgagcctccgcat	11	7	12	11	2	2	3	2	1	0	2	4	5	4	3	3	2	2	1	3	2	1	0	rs148184642	byFrequency	TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr5:140865886C>T	ENST00000306593.1	+	1	1146	c.1146C>T	c.(1144-1146)aaC>aaT	p.N382N	PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1												p.N382N(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGGTCAAACGGAGATGTGA	0.562													6	98					0	0	1	0	0	T	140865886	C	T	140865886	2	4	12	1	0	0	0	0	0	0	0	1	11617	535	19	1		1	PCDHGC4	5	140865886	Silent	SNP	C	TCGA-CH-5751-01A-11D-1576-08	39031570	140865886	40049374	13	546											
DCDC2	51473	broad.mit.edu	37	chr6	24357720	24357720	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttcctggcctccagccaCgtaattgcccccgctctgga	5	9	10	17	2	1	0	0	0	1	0	3	1	3	1	6	3	2	3	6	3	1	3			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr6:24357720C>T	ENST00000378454.3	-	1	560	c.259G>A	c.(259-261)Gtg>Atg	p.V87M	KAAG1_ENST00000274766.1_5'UTR	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	87	Doublecortin 1.				cellular defense response|intracellular signal transduction|neuron migration			p.V87M(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				CCTCCAGCCACGTAATTGCCC	0.587													40	105					0	0	1	0	0	T	24357720	C	T	24357720	3	4	12	1	0	0	0	0	1	0	0	0	4308	536	19	1	1211	1	DCDC2	6	24357720	Missense_Mutation	SNP	C	TCGA-CH-5751-01A-11D-1576-08		24357720	146757347	14	547											
LRRC16A	55604	broad.mit.edu	37	chr6	25472740	25472740	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	accttgctggcaacccactgGaggatagaggtactgcagag	11	7	13	10	0	0	2	0	0	0	2	0	4	0	4	2	4	4	4	2	4	3	3			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr6:25472740G>T	ENST00000329474.6	+	11	1233	c.865G>T	c.(865-867)Gag>Tag	p.E289*	LRRC16A_ENST00000377969.3_Nonsense_Mutation_p.E128*	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	289					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus		p.E289*(1)		breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						CAACCCACTGGAGGATAGAGG	0.423													2	1					1	1	1	1	0	T	25472740	G	T	25472740	4	4	12	1	0	0	0	0	0	1	0	0	9016	1175	41	4	907	4	LRRC16A	6	25472740	Nonsense_Mutation	SNP	G	TCGA-CH-5751-01A-11D-1576-08	1115020	25472740	145642327	15	548											
KIFC1	3833	broad.mit.edu	37	chr6	33377450	33377450	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtgtgttattggtactgctCaggccaacaggaagtgaaga	12	10	13	6	0	1	2	1	1	0	1	1	3	1	3	1	3	3	3	1	3	5	3			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr6:33377450C>T	ENST00000428849.2	+	11	2455	c.2005C>T	c.(2005-2007)Cag>Tag	p.Q669*		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	669					blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity	p.Q669*(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						TGGTACTGCTCAGGCCAACAG	0.483													39	259					0	0	1	0	0	T	33377450	C	T	33377450	4	4	12	1	0	0	0	0	0	1	0	0	8354	827	29	2	2047	2	KIFC1	6	33377450	Nonsense_Mutation	SNP	C	TCGA-CH-5751-01A-11D-1576-08	7904710	33377450	137737617	16	549											
FBXL4	26235	broad.mit.edu	37	chr6	99323344	99323344	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacatgccaattcatcaatgTctgtgtcacacacagatcta	13	12	5	11	0	5	1	3	0	2	1	5	1	5	1	1	0	2	0	1	0	4	3			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr6:99323344T>G	ENST00000369244.2	-	9	2077	c.1649A>C	c.(1648-1650)gAc>gCc	p.D550A	FBXL4_ENST00000229971.1_Missense_Mutation_p.D550A			Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	550					ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex		p.D550A(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		TTCATCAATGTCTGTGTCACA	0.413													46	121					0	0	1	0	0	G	99323344	T	G	99323344	3	3	12	1	0	0	0	0	1	0	0	0	5754	1667	58	5	224	5	FBXL4	6	99323344	Missense_Mutation	SNP	T	TCGA-CH-5751-01A-11D-1576-08	65945894	99323344	71791723	17	550											
NEUROD6	63974	broad.mit.edu	37	chr7	31377922	31377922	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cattgtgagagattggctgcGcagatgtaagtcgtaaggga	11	10	15	5	2	0	3	0	1	0	2	1	5	0	4	0	2	1	4	0	2	2	4			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr7:31377922G>A	ENST00000297142.3	-	2	1283	c.961C>T	c.(961-963)Cgc>Tgc	p.R321C		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	321					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.R321C(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						GATTGGCTGCGCAGATGTAAG	0.478													10	145					0	0	1	0	0	A	31377922	G	A	31377922	3	1	12	1	0	0	0	0	1	0	0	0	10398	1087	38	1	56	1	NEUROD6	7	31377922	Missense_Mutation	SNP	G	TCGA-CH-5751-01A-11D-1576-08		31377922	127760741	18	551											
BBS9	27241	broad.mit.edu	37	chr7	33573723	33573723	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caccttgctctgcgatagatTatccaaaggtggccgtctct	8	12	9	12	2	2	1	0	0	2	1	4	2	3	1	3	2	2	1	3	2	3	3			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr7:33573723T>C	ENST00000242067.6	+	21	2977	c.2456T>C	c.(2455-2457)tTa>tCa	p.L819S	BBS9_ENST00000354265.4_Missense_Mutation_p.L784S|BBS9_ENST00000350941.3_Missense_Mutation_p.L779S|BBS9_ENST00000355070.2_Missense_Mutation_p.L814S|BBS9_ENST00000396127.2_Missense_Mutation_p.L784S	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	819					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	p.L819S(2)	BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TGCGATAGATTATCCAAAGGT	0.493									Bardet-Biedl syndrome				45	86					0	0	1	0	0	C	33573723	T	C	33573723	3	2	12	1	0	0	0	0	1	0	0	0	1340	1764	61	3	2534	3	BBS9	7	33573723	Missense_Mutation	SNP	T	TCGA-CH-5751-01A-11D-1576-08	2195801	33573723	125564940	19	552											
DOK2	9046	broad.mit.edu	37	chr8	21768190	21768190	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agcttcccactcaccttgtcCcgcccaaagcgccgcagaaa	10	6	7	18	3	1	1	1	0	0	1	3	1	3	1	5	0	2	2	5	0	2	2			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr8:21768190C>T	ENST00000276420.4	-	4	870	c.612G>A	c.(610-612)cgG>cgA	p.R204R	DOK2_ENST00000544659.1_Silent_p.R50R	NM_003974.2	NP_003965.2	O60496	DOK2_HUMAN	docking protein 2, 56kDa	204	IRS-type PTB.				blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding	p.R204R(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		TCACCTTGTCCCGCCCAAAGC	0.632													15	23					0	0	1	0	0	T	21768190	C	T	21768190	2	4	12	1	0	0	0	0	0	0	0	1	4724	610	22	2		2	DOK2	8	21768190	Silent	SNP	C	TCGA-CH-5751-01A-11D-1576-08		21768190	124595832	20	553											
EPPK1	83481	broad.mit.edu	37	chr8	144942667	144942667	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagggcctctgggatgctCatcctctcctgggtgccctg	3	11	12	15	0	4	0	2	0	2	0	6	1	5	1	4	3	2	1	4	3	0	0	rs111431754		TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr8:144942667C>A	ENST00000525985.1	-	2	4826	c.4755G>T	c.(4753-4755)atG>atT	p.M1585I				P58107	EPIPL_HUMAN	epiplakin 1	1585						cytoplasm|cytoskeleton	protein binding|structural molecule activity	p.M1585I(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTGGGATGCTCATCCTCTCCT	0.647													33	26					1.30897e-18	1.54939e-18	1	1	0	A	144942667	C	A	144942667	3	1	12	1	0	0	0	0	1	0	0	0	5218	826	29	4	2511	4	EPPK1	8	144942667	Missense_Mutation	SNP	C	TCGA-CH-5751-01A-11D-1576-08	123174477	144942667	1421355	21	554											
NOL8	55035	broad.mit.edu	37	chr9	95069196	95069199	+	Frame_Shift_Del	DEL	TGTT	TGTT	-																															cttagcagctactgatcctcTgtttgtagaattgcttaagt																										TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr9:95069196_95069199delTGTT	ENST00000545558.1	-	11	3286_3289	c.2794_2797delAACA	c.(2794-2799)gafs	p.NR932fs	NOL8_ENST00000542053.1_Frame_Shift_Del_p.NR864fs|NOL8_ENST00000535387.1_Frame_Shift_Del_p.NR894fs|NOL8_ENST00000442668.2_Frame_Shift_Del_p.NR932fs|NOL8_ENST00000358855.4_Frame_Shift_Del_p.NR864fs			Q76FK4	NOL8_HUMAN	nucleolar protein 8	932					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						ACTGATCCTCTGTTTGTAGAATTG	0.338													7	281	---	---	---	---						-	95069199	TGTT	-	95069196	7	5	12	1	0	1	0	1	0	0	0	0	10574	1588	55	0	734	0	NOL8	9	95069196	Frame_Shift_Del	DEL	TGTT	TCGA-CH-5751-01A-11D-1576-08		95069196	46144235	22	555											
KIF18A	81930	broad.mit.edu	37	chr11	28058051	28058051	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtcttctggtgtatatacAataggctgaagttctttgct	9	16	9	7	0	3	1	0	1	3	0	3	1	3	1	0	2	2	4	0	2	6	7			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr11:28058051A>G	ENST00000263181.6	-	14	2399	c.2109T>C	c.(2107-2109)atT>atC	p.I703I		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	703					blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding	p.I703I(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						GTGTATATACAATAGGCTGAA	0.383													48	191					0	0	1	0	0	G	28058051	A	G	28058051	2	3	12	1	0	0	0	0	0	0	0	1	8322	126	5	3		3	KIF18A	11	28058051	Silent	SNP	A	TCGA-CH-5751-01A-11D-1576-08		28058051	106948465	23	556											
CATSPER1	117144	broad.mit.edu	37	chr11	65793239	65793239	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgatgctgggactcatcGtgttggagcccgctaaggtg	6	11	16	8	2	1	1	1	1	0	0	2	3	1	3	1	4	2	3	1	4	1	2			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr11:65793239G>A	ENST00000312106.5	-	1	749	c.612C>T	c.(610-612)caC>caT	p.H204H		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	204	His-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding	p.H204H(1)		breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						GGGACTCATCGTGTTGGAGCC	0.617													5	137					0	0	1	0	0	A	65793239	G	A	65793239	2	1	12	1	0	0	0	0	0	0	0	1	2705	1136	40	1		1	CATSPER1	11	65793239	Silent	SNP	G	TCGA-CH-5751-01A-11D-1576-08	37735188	65793239	69213277	24	557											
CABP4	57010	broad.mit.edu	37	chr11	67223061	67223061	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agggtctcgaaagcgcactgGcagctctggggagcagacag	10	5	16	10	2	2	1	0	0	2	1	3	3	2	2	0	4	3	4	0	4	1	0			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr11:67223061G>A	ENST00000325656.5	+	1	244	c.167G>A	c.(166-168)gGc>gAc	p.G56D	CABP4_ENST00000542025.2_3'UTR|CABP4_ENST00000438189.2_Intron	NM_145200.3	NP_660201.1	P57796	CABP4_HUMAN	calcium binding protein 4	56					visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding	p.G56D(1)		central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			AAGCGCACTGGCAGCTCTGGG	0.687													13	9					0	0	1	0	0	A	67223061	G	A	67223061	3	1	12	1	0	0	0	0	1	0	0	0	2551	1203	42	2	169	2	CABP4	11	67223061	Missense_Mutation	SNP	G	TCGA-CH-5751-01A-11D-1576-08	1429822	67223061	67783455	25	558											
ACY3	91703	broad.mit.edu	37	chr11	67412278	67412278	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggtgcccggcctcggtgcGggggaagtccacgacgccca	6	4	16	15	5	0	0	0	0	0	0	2	2	1	1	4	5	2	0	4	5	1	0			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr11:67412278G>A	ENST00000255082.3	-	7	867	c.697C>T	c.(697-699)Cgc>Tgc	p.R233C	ACY3_ENST00000529256.1_Missense_Mutation_p.R112C	NM_080658.1	NP_542389.1	Q96HD9	ACY3_HUMAN	aspartoacylase (aminocyclase) 3	233					interspecies interaction between organisms	apical plasma membrane|cytoplasm	hydrolase activity, acting on ester bonds|metal ion binding	p.R233C(1)		endometrium(1)|lung(5)|prostate(2)	8					L-Aspartic Acid(DB00128)	GCCTCGGTGCGGGGGAAGTCC	0.632													4	7					0	0	1	0	0	A	67412278	G	A	67412278	3	1	12	1	0	0	0	0	1	0	0	0	226	1116	39	1	270	1	ACY3	11	67412278	Missense_Mutation	SNP	G	TCGA-CH-5751-01A-11D-1576-08	189217	67412278	67594238	26	559											
TRPC6	7225	broad.mit.edu	37	chr11	101374961	101374961	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagaaataatcatgaggccGttcaatcctagcacccttcc	12	9	7	13	1	2	2	2	1	0	1	4	2	4	2	4	1	1	3	4	1	4	4			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr11:101374961G>A	ENST00000344327.3	-	2	1163	c.739C>T	c.(739-741)Cgg>Tgg	p.R247W	TRPC6_ENST00000348423.4_Missense_Mutation_p.R247W|TRPC6_ENST00000360497.4_Missense_Mutation_p.R247W|TRPC6_ENST00000532133.1_Missense_Mutation_p.R247W	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	247					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	p.R247W(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TCATGAGGCCGTTCAATCCTA	0.478													79	180					0	0	1	0	0	A	101374961	G	A	101374961	3	1	12	1	0	0	0	0	1	0	0	0	16644	1144	40	1	2104	1	TRPC6	11	101374961	Missense_Mutation	SNP	G	TCGA-CH-5751-01A-11D-1576-08	33962683	101374961	33631555	27	560											
ABCC9	10060	broad.mit.edu	37	chr12	22035727	22035727	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaatgtcctctgtttctgcGggacgtagacgccgtgttga	6	12	13	10	4	2	2	0	1	2	1	3	3	3	3	2	1	1	4	2	1	2	3			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr12:22035727G>A	ENST00000261200.4	-	14	1991	c.1992C>T	c.(1990-1992)ccC>ccT	p.P664P	ABCC9_ENST00000345162.2_Intron|ABCC9_ENST00000261201.4_Silent_p.P664P|RP11-729I10.2_ENST00000539874.1_RNA	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	664					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	p.P664P(3)|p.A665fs*57(2)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CTGTTTCTGCGGGACGTAGAC	0.383													56	232					0	0	1	0	0	A	22035727	G	A	22035727	2	1	12	1	0	0	0	0	0	0	0	1	59	1103	39	1		1	ABCC9	12	22035727	Silent	SNP	G	TCGA-CH-5751-01A-11D-1576-08		22035727	111816168	28	561											
SLITRK5	26050	broad.mit.edu	37	chr13	88329453	88329453	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aattcgctgagaccgacatgCgctccattaagtcggagctg	10	9	11	11	4	0	1	0	1	0	1	3	4	1	2	2	1	2	3	2	1	2	2			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr13:88329453C>T	ENST00000325089.6	+	2	2029	c.1810C>T	c.(1810-1812)Cgc>Tgc	p.R604C	SLITRK5_ENST00000400028.3_Missense_Mutation_p.R363C	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	604	LRRCT 2.					integral to membrane		p.R604C(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GACCGACATGCGCTCCATTAA	0.567													21	208					0	0	1	0	0	T	88329453	C	T	88329453	3	4	12	1	0	0	0	0	1	0	0	0	14800	768	27	1	1812	1	SLITRK5	13	88329453	Missense_Mutation	SNP	C	TCGA-CH-5751-01A-11D-1576-08		88329453	26840425	29	562											
FUT8	2530	broad.mit.edu	37	chr14	66208993	66208993	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctggagatatcattggtgtGgctggaaatcattgggatgg	9	12	15	5	0	2	1	2	0	0	1	2	4	2	3	1	6	0	1	1	6	2	3			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr14:66208993G>C	ENST00000360689.5	+	11	3320	c.1593G>C	c.(1591-1593)gtG>gtC	p.V531V	FUT8_ENST00000417683.1_Silent_p.V125V|FUT8_ENST00000394586.2_Silent_p.V531V|FUT8_ENST00000394585.1_Silent_p.V531V|FUT8_ENST00000557164.1_Silent_p.V368V|FUT8_ENST00000358307.2_Silent_p.V402V	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	531	SH3.				in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding	p.V531V(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		TCATTGGTGTGGCTGGAAATC	0.463													20	181					0	0	1	0	0	C	66208993	G	C	66208993	2	2	12	1	0	0	0	0	0	0	0	1	6145	1335	47	4		4	FUT8	14	66208993	Silent	SNP	G	TCGA-CH-5751-01A-11D-1576-08		66208993	41140547	30	563											
IL21R	50615	broad.mit.edu	37	chr16	27455956	27455956	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgagctatgagctgcaggtgCgggcagggcccatgcctggc	6	6	17	12	2	0	1	0	1	0	0	0	2	0	1	2	4	5	4	2	4	1	1			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr16:27455956C>T	ENST00000337929.3	+	6	1074	c.601C>T	c.(601-603)Cgg>Tgg	p.R201W	IL21R_ENST00000395755.1_Missense_Mutation_p.R201W|IL21R_ENST00000395754.4_Missense_Mutation_p.R201W|IL21R_ENST00000564089.1_Missense_Mutation_p.R201W|IL21R_ENST00000564583.1_3'UTR	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	201	Fibronectin type-III.				natural killer cell activation	integral to membrane	interleukin-21 receptor activity	p.R201W(1)		breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						GCTGCAGGTGCGGGCAGGGCC	0.597			T	BCL6	NHL								8	239					0	0	1	0	0	T	27455956	C	T	27455956	3	4	12	1	0	0	0	0	1	0	0	0	7715	759	27	1	619	1	IL21R	16	27455956	Missense_Mutation	SNP	C	TCGA-CH-5751-01A-11D-1576-08		27455956	62898797	31	564											
NLRP1	22861	broad.mit.edu	37	chr17	5462267	5462268	+	Frame_Shift_Ins	INS	-	-	T																															catctggactgaaaagggtcINStttttttgccagatgccctc																										TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr17:5462267_5462268insT	ENST00000345221.3	-	4	2302_2303	c.1748_1749insA	c.(1747-1749)aacfs	p.N583fs	NLRP1_ENST00000572272.1_Frame_Shift_Ins_p.N583fs|NLRP1_ENST00000354411.3_Frame_Shift_Ins_p.N583fs|NLRP1_ENST00000577119.1_Frame_Shift_Ins_p.N583fs|NLRP1_ENST00000262467.5_Frame_Shift_Ins_p.N583fs|NLRP1_ENST00000269280.4_Frame_Shift_Ins_p.N583fs|NLRP1_ENST00000571307.1_5'UTR	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	583	NACHT.				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TGAAAAGGGTCTTTTTTTGCCA	0.535													7	101	---	---	---	---						T	5462268	-	T	5462267	7	5	12	1	0	1	1	0	0	0	0	0	10518	912	32	0	2803	0	NLRP1	17	5462267	Frame_Shift_Ins	INS	-	TCGA-CH-5751-01A-11D-1576-08		5462267	75732943	32	565											
SGSH	6448	broad.mit.edu	37	chr17	78187975	78187975	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggggccgtcctaccagcAcgtccagtgggtcgtaggcc	6	6	16	13	3	0	0	0	0	0	0	3	1	2	1	5	5	2	2	5	5	2	2			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr17:78187975A>G	ENST00000326317.6	-	5	745	c.659T>C	c.(658-660)gTg>gCg	p.V220A	SGSH_ENST00000534910.1_Missense_Mutation_p.V17A|SGSH_ENST00000570923.1_Missense_Mutation_p.C232R|SGSH_ENST00000572208.1_5'UTR	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase	220					proteoglycan metabolic process	lysosome	metal ion binding|N-sulfoglucosamine sulfohydrolase activity|sulfuric ester hydrolase activity	p.V220A(1)		central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TCCTACCAGCACGTCCAGTGG	0.637													11	21					0	0	1	0	0	G	78187975	A	G	78187975	3	3	12	1	0	0	0	0	1	0	0	0	14275	159	6	3	865	3	SGSH	17	78187975	Missense_Mutation	SNP	A	TCGA-CH-5751-01A-11D-1576-08	72725708	78187975	3007235	33	566											
AATK	9625	broad.mit.edu	37	chr17	79094618	79094618	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccccggaaaccccaggccTgagacagacctgctcagacg	10	4	10	17	2	1	3	1	1	0	3	2	5	2	4	6	2	2	1	6	2	1	0			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr17:79094618T>C	ENST00000326724.4	-	11	3142	c.3118A>G	c.(3118-3120)Agg>Ggg	p.R1040G	AATK_ENST00000417379.1_Missense_Mutation_p.R937G	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	1040						integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R1040G(2)		endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			ACCCCAGGCCTGAGACAGACC	0.716													2	11					0	0	1	0	0	C	79094618	T	C	79094618	3	2	12	1	0	0	0	0	1	0	0	0	26	1579	55	3	1022	3	AATK	17	79094618	Missense_Mutation	SNP	T	TCGA-CH-5751-01A-11D-1576-08	906643	79094618	2100592	34	567											
ZNF24	7572	broad.mit.edu	37	chr18	32917272	32917272	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaagatttgagctttgactaTacgatttcccacactgaacg	13	12	7	9	2	0	4	0	3	0	1	1	5	1	4	1	0	3	1	1	0	4	5			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr18:32917272T>C	ENST00000261332.6	-	4	1210	c.1031A>G	c.(1030-1032)tAt>tGt	p.Y344C	ZNF24_ENST00000589881.1_3'UTR|ZNF24_ENST00000399061.3_Missense_Mutation_p.Y344C	NM_006965.2	NP_008896.2	P17028	ZNF24_HUMAN	zinc finger protein 24	344					myelination|negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Y344C(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	15						GCTTTGACTATACGATTTCCC	0.358													21	169					0	0	1	0	0	C	32917272	T	C	32917272	3	2	12	1	0	0	0	0	1	0	0	0	17850	1406	49	3	79	3	ZNF24	18	32917272	Missense_Mutation	SNP	T	TCGA-CH-5751-01A-11D-1576-08		32917272	45159976	35	568											
AKAP8L	26993	broad.mit.edu	37	chr19	15512380	15512380	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtcgcgctcactcaggaCggccctcgagtcgcaggact	7	6	13	15	5	2	0	2	0	0	0	5	3	2	2	1	4	0	2	1	4	0	0			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr19:15512380C>T	ENST00000397410.4	-	5	461	c.397G>A	c.(397-399)Gtc>Atc	p.V133I	AKAP8L_ENST00000595136.1_Intron|AKAP8L_ENST00000595465.1_Missense_Mutation_p.V72I	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	133						cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding	p.V133I(2)		central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						TCACTCAGGACGGCCCTCGAG	0.592													5	23					0	0	1	0	0	T	15512380	C	T	15512380	3	4	12	1	0	0	0	0	1	0	0	0	455	536	19	1	1583	1	AKAP8L	19	15512380	Missense_Mutation	SNP	C	TCGA-CH-5751-01A-11D-1576-08		15512380	43616603	36	569											
CYP4F2	8529	broad.mit.edu	37	chr19	16003198	16003198	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaggcaggcgtcagcatcCgacggtggcggctccacttg	7	6	16	12	4	1	0	1	0	0	0	3	2	3	1	2	6	1	3	2	6	1	1	rs140630977		TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chr19:16003198C>T	ENST00000221700.5	-	5	541	c.446G>A	c.(445-447)cGg>cAg	p.R149Q	CYP4F2_ENST00000011989.7_5'UTR|CYP4F2_ENST00000592328.1_Missense_Mutation_p.R149Q	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	149					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	p.R149Q(2)		NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CGTCAGCATCCGACGGTGGCG	0.567													27	131					0	0	1	0	0	T	16003198	C	T	16003198	3	4	12	1	0	0	0	0	1	0	0	0	4211	652	23	1	1152	1	CYP4F2	19	16003198	Missense_Mutation	SNP	C	TCGA-CH-5751-01A-11D-1576-08	490818	16003198	43125785	37	570											
KLHL4	0	broad.mit.edu	37	chrX	86888856	86888856	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agggacgacagtggaattacGtagccagtatgtcaactcct	12	9	11	9	2	1	0	1	0	0	0	2	3	2	2	2	2	3	2	2	2	5	3			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chrX:86888856G>A	ENST00000373119.4	+	8	1802	c.1657G>A	c.(1657-1659)Gta>Ata	p.V553I	KLHL4_ENST00000373114.4_Missense_Mutation_p.V553I	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	553						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	p.V553I(2)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						GTGGAATTACGTAGCCAGTAT	0.433													5	41					0	0	1	0	0	A	86888856	G	A	86888856	3	1	12	1	0	0	0	0	1	0	0	0	8434	1145	40	1	1687	1	KLHL4	23	86888856	Missense_Mutation	SNP	G	TCGA-CH-5751-01A-11D-1576-08		86888856	68381704	38	571											
AMOT	154796	broad.mit.edu	37	chrX	112058796	112058796	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgtggctgctgctgctgCtgttgttggtggtgatggtg	1	16	18	6	0	0	1	0	1	0	0	0	1	0	1	0	4	5	8	0	4	0	2			TCGA-CH-5751-01A-11D-1576-08	TCGA-CH-5751-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	072e5acd-3329-42b8-9aec-d6166ac61e35	0e96e352-8a8f-4960-ad33-d64018480ff1	g.chrX:112058796C>T	ENST00000371959.3	-	2	1181	c.1182G>A	c.(1180-1182)caG>caA	p.Q394Q	AMOT_ENST00000371962.1_Silent_p.Q162Q|AMOT_ENST00000304758.1_5'UTR|AMOT_ENST00000524145.1_Silent_p.Q394Q|AMOT_ENST00000371958.1_Silent_p.Q162Q	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	394					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	p.Q394Q(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						gctgctgctgctgttgttggt	0.582													3	29					0	0	1	0	0	T	112058796	C	T	112058796	2	4	12	1	0	0	0	0	0	0	0	1	578	796	28	2		2	AMOT	23	112058796	Silent	SNP	C	TCGA-CH-5751-01A-11D-1576-08	25169940	112058796	43211764	39	572											
WASF2	10163	broad.mit.edu	37	chr1	27755320	27755320	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccagggtgatgttggtcacGcattccagctcgcttctaac	7	11	11	12	2	2	1	1	1	1	0	4	1	3	1	2	2	2	4	2	2	1	4			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr1:27755320G>A	ENST00000430629.2	-	2	296	c.81C>T	c.(79-81)tgC>tgT	p.C27C	WASF2_ENST00000536657.1_Silent_p.C27C	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	27					actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger	actin cytoskeleton|lamellipodium	actin binding	p.C27C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		TGTTGGTCACGCATTCCAGCT	0.577													4	140					0	0	0.150653	0	0	A	27755320	G	A	27755320	2	1	13	1	0	0	0	0	0	0	0	1	17313	1079	38	1		1	WASF2	1	27755320	Silent	SNP	G	TCGA-CH-5752-01A-11D-1576-08		27755320	221495301	1	573											
GBP2	2634	broad.mit.edu	37	chr1	89587611	89587611	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgccctttagtgttatcaatGaggctcattgggcccggcaa	8	12	11	10	1	2	1	2	1	0	0	2	1	2	1	2	3	1	3	2	3	4	4			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr1:89587611G>C	ENST00000370466.3	-	2	307	c.39C>G	c.(37-39)ctC>ctG	p.L13L		NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	13					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	p.L13L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		TGTTATCAATGAGGCTCATTG	0.498													5	252					0	0	0.184627	0	0	C	89587611	G	C	89587611	2	2	13	1	0	0	0	0	0	0	0	1	6314	1277	45	4		4	GBP2	1	89587611	Silent	SNP	G	TCGA-CH-5752-01A-11D-1576-08	61832291	89587611	159663010	2	574											
GSTM5	2949	broad.mit.edu	37	chr1	110256100	110256100	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcttccccggtttcccatctAtccagctgccctacttgatt	5	14	6	16	1	1	1	0	1	1	0	4	1	4	1	5	1	3	3	5	1	2	6			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr1:110256100A>G	ENST00000369813.1	+	2	954	c.49A>G	c.(49-51)Atc>Gtc	p.I17V	GSTM5_ENST00000369812.5_Missense_Mutation_p.I77V|GSTM5_ENST00000256593.3_Intron			P46439	GSTM5_HUMAN	glutathione S-transferase mu 5	59	GST N-terminal.				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity	p.?(1)		NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	TTTCCCATCTATCCAGCTGCC	0.592													84	186					0	0	0.870114	0	0	G	110256100	A	G	110256100	3	3	13	1	0	0	0	0	1	0	0	0	6882	464	16	3		3	GSTM5	1	110256100	Missense_Mutation	SNP	A	TCGA-CH-5752-01A-11D-1576-08	20668489	110256100	138994521	3	575											
TXNIP	10628	broad.mit.edu	37	chr1	145440347	145440347	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagctgccattgtggcccGccacacttaccttgccaatg	9	9	8	15	1	0	0	0	0	0	0	0	0	0	0	5	1	4	1	5	1	3	3			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr1:145440347G>T	ENST00000369317.4	+	5	987	c.653G>T	c.(652-654)cGc>cTc	p.R218L	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	218					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding	p.R218L(1)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ATTGTGGCCCGCCACACTTAC	0.478													21	118					9.95505e-16	1.22822e-15	0.624587	1	0	T	145440347	G	T	145440347	3	4	13	1	0	0	0	0	1	0	0	0	16865	1087	38	4	671	4	TXNIP	1	145440347	Missense_Mutation	SNP	G	TCGA-CH-5752-01A-11D-1576-08	35184247	145440347	103810274	4	576											
SPTA1	6708	broad.mit.edu	37	chr1	158612201	158612201	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactcatcctgagctttacCttcatggcctcttcattgcc	8	14	5	14	0	4	1	3	1	1	0	5	1	5	1	4	1	4	1	4	1	2	5			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr1:158612201C>T	ENST00000368148.3	-	33	4917	c.4737_splice	c.e33+1	p.K1579_splice	SPTA1_ENST00000368147.3_Splice_Site_p.K1579_splice	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1579					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.K1579K(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGAGCTTTACCTTCATGGCCT	0.393													9	269					0	0	0.361761	0	0	T	158612201	C	T	158612201	5	4	13	1	0	0	0	0	0	0	1	0	15172	695	24	2	2602	2	SPTA1	1	158612201	Splice_Site	SNP	C	TCGA-CH-5752-01A-11D-1576-08	13171854	158612201	90638420	5	577											
ARID4B	51742	broad.mit.edu	37	chr1	235345029	235345029	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcaacactatccacctcaaTtgtgctatcagtttcactct	11	13	4	13	0	4	0	3	0	1	0	5	0	5	0	2	0	3	3	2	0	4	4			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr1:235345029T>C	ENST00000264183.3	-	20	3702	c.3205A>G	c.(3205-3207)Att>Gtt	p.I1069V	ARID4B_ENST00000349213.3_Missense_Mutation_p.I983V|ARID4B_ENST00000494543.1_5'UTR|ARID4B_ENST00000366603.2_Missense_Mutation_p.I1069V	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	1069					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	p.I1069V(1)		NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TCCACCTCAATTGTGCTATCA	0.493													32	54					0	0	0.729181	0	0	C	235345029	T	C	235345029	3	2	13	1	0	0	0	0	1	0	0	0	917	1493	52	3	753	3	ARID4B	1	235345029	Missense_Mutation	SNP	T	TCGA-CH-5752-01A-11D-1576-08	76732828	235345029	13905592	6	578											
CCDC85A	114800	broad.mit.edu	37	chr2	56603059	56603059	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcagcctgaacctgtggtaCattctcttaaggtaaccaat	12	11	8	10	0	1	1	0	1	1	0	2	1	1	1	3	2	5	3	3	2	5	4			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr2:56603059C>A	ENST00000407595.2	+	5	2063	c.1561C>A	c.(1561-1563)Cat>Aat	p.H521N	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	521								p.H521N(1)		breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ACCTGTGGTACATTCTCTTAA	0.498													32	60					1.836e-18	2.3256e-18	0.788014	1	0	A	56603059	C	A	56603059	3	1	13	1	0	0	0	0	1	0	0	0	2879	478	17	4	1579	4	CCDC85A	2	56603059	Missense_Mutation	SNP	C	TCGA-CH-5752-01A-11D-1576-08		56603059	186596314	7	579											
CCDC115	84317	broad.mit.edu	37	chr2	131096732	131096732	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agctgcttgagtttctcttgGagtccccggagctggcttcg	4	13	13	11	2	1	1	0	1	1	0	4	3	2	3	2	3	3	5	2	3	0	4			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr2:131096732G>C	ENST00000259229.2	-	5	727	c.504C>G	c.(502-504)ctC>ctG	p.L168L	CCDC115_ENST00000437688.2_3'UTR|CCDC115_ENST00000409127.1_Silent_p.L163L	NM_032357.2	NP_115733.2	Q96NT0	CC115_HUMAN	coiled-coil domain containing 115	168						endosome|lysosome		p.L168L(1)		central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	7	Colorectal(110;0.1)					GTTTCTCTTGGAGTCCCCGGA	0.612													7	62					0	0	0.248553	0	0	C	131096732	G	C	131096732	2	2	13	1	0	0	0	0	0	0	0	1	2770	1161	41	4		4	CCDC115	2	131096732	Silent	SNP	G	TCGA-CH-5752-01A-11D-1576-08	74493673	131096732	112102641	8	580											
TLK1	9874	broad.mit.edu	37	chr2	171862701	171862701	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttagatccattccatctacAccatagctatcatcatccat	12	13	3	13	0	3	1	2	0	1	1	6	1	6	1	4	0	2	2	4	0	4	5			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr2:171862701A>G	ENST00000442919.2	-	18	2331	c.1716T>C	c.(1714-1716)ggT>ggC	p.G572G	TLK1_ENST00000521943.1_Silent_p.G572G|TLK1_ENST00000360843.3_Silent_p.G641G|TLK1_ENST00000431350.2_Silent_p.G620G|TLK1_ENST00000434911.2_Silent_p.G524G	NM_012290.4	NP_036422.3	Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	620	Protein kinase.				cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.G572G(2)|p.G620G(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TTCCATCTACACCATAGCTAT	0.398													15	213					0	0	0.520397	0	0	G	171862701	A	G	171862701	2	3	13	1	0	0	0	0	0	0	0	1	16003	146	6	3		3	TLK1	2	171862701	Silent	SNP	A	TCGA-CH-5752-01A-11D-1576-08	40765969	171862701	71336672	9	581											
SGOL2	151246	broad.mit.edu	37	chr2	201436396	201436396	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgatgtcctggatggcaaaAggggtgcagaagatcccggt	10	8	15	8	1	0	3	0	1	0	2	2	4	2	4	2	5	1	2	2	5	3	0			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr2:201436396A>G	ENST00000357799.4	+	7	1425	c.1327A>G	c.(1327-1329)Agg>Ggg	p.R443G		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	443					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	p.R443G(1)		NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						GGATGGCAAAAGGGGTGCAGA	0.398													3	263					0	0	0.150653	0	0	G	201436396	A	G	201436396	3	3	13	1	0	0	0	0	1	0	0	0	14271	63	3	3	1349	3	SGOL2	2	201436396	Missense_Mutation	SNP	A	TCGA-CH-5752-01A-11D-1576-08	29573695	201436396	41762977	10	582											
TTLL3	26140	broad.mit.edu	37	chr3	9870957	9870957	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acgccagccccacgatggcaCcctccacagcagtcactgcc	9	4	8	20	2	1	0	1	0	0	0	2	1	2	0	6	1	3	2	6	1	0	0			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr3:9870957C>A	ENST00000383827.1	+	4	3077	c.796C>A	c.(796-798)Ccc>Acc	p.P266T	ARPC4-TTLL3_ENST00000397256.1_Missense_Mutation_p.P539T|TTLL3_ENST00000547186.1_Missense_Mutation_p.P478T|TTLL3_ENST00000426895.4_Missense_Mutation_p.P621T|TTLL3_ENST00000455274.1_Missense_Mutation_p.P266T|TTLL3_ENST00000466245.1_3'UTR|TTLL3_ENST00000397241.1_Missense_Mutation_p.P266T|TTLL3_ENST00000430793.1_Missense_Mutation_p.P266T|TTLL3_ENST00000427853.3_Missense_Mutation_p.P266T			Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	478	TTL.				axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity	p.P478T(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					CACGATGGCACCCTCCACAGC	0.622													59	91					1.08141e-31	1.42685e-31	0.870114	1	0	A	9870957	C	A	9870957	3	1	13	1	0	0	0	0	1	0	0	0	16790	507	18	4	1466	4	TTLL3	3	9870957	Missense_Mutation	SNP	C	TCGA-CH-5752-01A-11D-1576-08		9870957	188151473	11	583											
CTNNB1	1499	broad.mit.edu	37	chr3	41266136	41266136	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccactaccacagctcctTctctgagtggtaaaggcaat	10	10	9	12	0	1	1	0	1	1	0	3	1	2	1	3	2	3	3	3	2	4	3	rs121913407		TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr3:41266136T>C	ENST00000349496.5	+	3	413	c.133T>C	c.(133-135)Tct>Cct	p.S45P	CTNNB1_ENST00000396185.3_Missense_Mutation_p.S45P|CTNNB1_ENST00000396183.3_Missense_Mutation_p.S45P|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S38P|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S45P	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	45			Missing (in colorectal cancer).|S -> F (in hepatocellular carcinoma).|S -> P (in hepatocellular carcinoma).		adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.S45P(168)|p.A5_A80del(53)|p.S45del(50)|p.S45A(11)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.W25_I140del(3)|p.T3_A126del(2)|p.D32_S47del(2)|p.P44_S45del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.S45_G48del(1)|p.Q28_Q61del(1)|p.T41_N51del(1)|p.M1_A87del(1)|p.S45_L46del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.P44_N51del(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.T42_G48del(1)|p.S45_D58del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.T40_L46del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.H24_M131del(1)|p.S45E(1)|p.M8_A80del(1)|p.A5_E54del(1)|p.S45T(1)|p.A21_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.A20_S111del(1)|p.T42_K49>Q(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	CACAGCTCCTTCTCTGAGTGG	0.502		15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of				5	105					0	0	0.184627	0	0	C	41266136	T	C	41266136	3	2	13	1	0	0	0	0	1	0	0	0	4040	1783	62	3	139	3	CTNNB1	3	41266136	Missense_Mutation	SNP	T	TCGA-CH-5752-01A-11D-1576-08	31395179	41266136	156756294	12	584											
SACM1L	22908	broad.mit.edu	37	chr3	45761023	45761023	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattcatgttctattaatggAaaatactttgattggattct	12	18	6	5	0	3	1	1	1	2	0	3	3	3	3	0	2	1	1	0	2	5	8			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr3:45761023A>G	ENST00000389061.5	+	8	813	c.609A>G	c.(607-609)ggA>ggG	p.G203G	SACM1L_ENST00000541314.1_Silent_p.G142G|SACM1L_ENST00000418611.1_Silent_p.G100G	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN	SAC1 suppressor of actin mutations 1-like (yeast)	203	SAC.					Golgi apparatus		p.G203G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		CTATTAATGGAAAATACTTTG	0.338													6	77					0	0	0.248553	0	0	G	45761023	A	G	45761023	2	3	13	1	0	0	0	0	0	0	0	1	13855	233	9	3		3	SACM1L	3	45761023	Silent	SNP	A	TCGA-CH-5752-01A-11D-1576-08	4494887	45761023	152261407	13	585											
USP19	10869	broad.mit.edu	37	chr3	49147711	49147711	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacaggagagttccgccggCggtagaagagtacataggca	12	5	14	10	3	0	3	0	0	0	3	1	4	1	3	3	4	1	4	3	4	4	4			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr3:49147711C>A	ENST00000453664.1	-	26	4226	c.3908G>T	c.(3907-3909)cGc>cTc	p.R1303L	USP19_ENST00000434032.2_Missense_Mutation_p.R1313L|USP19_ENST00000417901.1_Missense_Mutation_p.R1315L|USP19_ENST00000398888.2_Missense_Mutation_p.R1212L|USP19_ENST00000398892.3_Missense_Mutation_p.R1252L|USP19_ENST00000398896.1_Missense_Mutation_p.R1020L|USP19_ENST00000398898.2_Missense_Mutation_p.R1252L	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	1212					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.R1300L(1)		NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GTTCCGCCGGCGGTAGAAGAG	0.617													3	103					0.115264	0.123035	0.115264	1	0	A	49147711	C	A	49147711	3	1	13	1	0	0	0	0	1	0	0	0	17110	768	27	4	329	4	USP19	3	49147711	Missense_Mutation	SNP	C	TCGA-CH-5752-01A-11D-1576-08	3386688	49147711	148874719	14	586											
ATP6V1A	523	broad.mit.edu	37	chr3	113508598	113508598	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctcacaatggaggttgatgGtaaggtagagtcaattatga	13	11	13	4	0	2	3	2	2	0	1	2	4	2	4	0	4	0	4	0	4	5	4			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr3:113508598G>T	ENST00000273398.3	+	8	1007	c.899G>T	c.(898-900)gGt>gTt	p.G300V	ATP6V1A_ENST00000538620.1_Missense_Mutation_p.G267V	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	300					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	p.G300V(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GAGGTTGATGGTAAGGTAGAG	0.353													51	103					8.04919e-23	1.03334e-22	0.870114	1	0	T	113508598	G	T	113508598	3	4	13	1	0	0	0	0	1	0	0	0	1175	1261	44	4	925	4	ATP6V1A	3	113508598	Missense_Mutation	SNP	G	TCGA-CH-5752-01A-11D-1576-08	64360887	113508598	84513832	15	587											
COL6A5	256076	broad.mit.edu	37	chr3	130159274	130159274	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacagtaaaaacagagtttgAtttcatcacttatgacaacc	16	12	5	8	0	2	3	2	2	0	1	2	3	2	3	1	0	3	2	1	0	6	5			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr3:130159274A>T	ENST00000265379.6	+	35	6586	c.6092A>T	c.(6091-6093)gAt>gTt	p.D2031V	COL6A5_ENST00000432398.2_Missense_Mutation_p.D2031V			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2031	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion	collagen		p.D70V(1)|p.D2031V(1)		endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						ACAGAGTTTGATTTCATCACT	0.423													45	100					0	0	0.859065	0	0	T	130159274	A	T	130159274	3	4	13	1	0	0	0	0	1	0	0	0	3725	333	12	5	6226	5	COL6A5	3	130159274	Missense_Mutation	SNP	A	TCGA-CH-5752-01A-11D-1576-08	16650676	130159274	67863156	16	588											
TBL1XR1	79718	broad.mit.edu	37	chr3	176755961	176755961	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgatagcatttacttcattCtaaaaataatagtaaatatt	17	17	3	4	0	2	1	1	1	1	0	2	1	2	1	0	0	2	2	0	0	10	12			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr3:176755961C>G	ENST00000430069.1	-	12	1307		c.e12-1		TBL1XR1_ENST00000457928.2_Splice_Site			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1						canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding	p.?(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			TTACTTCATTCTAAAAATAAT	0.323													4	57					0	0	0.184627	0	0	G	176755961	C	G	176755961	5	3	13	1	0	0	0	0	0	0	1	0	15700	927	32	4	517	4	TBL1XR1	3	176755961	Splice_Site	SNP	C	TCGA-CH-5752-01A-11D-1576-08	46596687	176755961	21266469	17	589											
EHHADH	1962	broad.mit.edu	37	chr3	184910384	184910384	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgggtttttctataccgtGataggaatttggaaagccag	11	13	12	5	1	1	1	0	1	1	0	1	4	1	3	2	3	2	1	2	3	5	6			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr3:184910384G>A	ENST00000231887.3	-	7	1877	c.1802C>T	c.(1801-1803)tCa>tTa	p.S601L	EHHADH_ENST00000456310.1_Missense_Mutation_p.S505L	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	601						peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity	p.S601L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	TCTATACCGTGATAGGAATTT	0.428													34	227					0	0	0.760397	0	0	A	184910384	G	A	184910384	3	1	13	1	0	0	0	0	1	0	0	0	5008	1294	45	2	373	2	EHHADH	3	184910384	Missense_Mutation	SNP	G	TCGA-CH-5752-01A-11D-1576-08	8154423	184910384	13112046	18	590											
CRMP1	1400	broad.mit.edu	37	chr4	5837779	5837779	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcattggtgctggtgacagCgacaaactggttctcatcca	9	11	11	10	1	1	1	1	1	1	0	3	2	2	1	1	3	4	3	1	3	1	2			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr4:5837779C>T	ENST00000324989.7	-	11	1574	c.1486G>A	c.(1486-1488)Gct>Act	p.A496T	CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000512574.1_Missense_Mutation_p.A380T|CRMP1_ENST00000397890.2_Missense_Mutation_p.A382T	NM_001014809.1	NP_001014809.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	382					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding	p.A496T(1)		NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		CTGGTGACAGCGACAAACTGG	0.567													77	143					0	0	0.870114	0	0	T	5837779	C	T	5837779	3	4	13	1	0	0	0	0	1	0	0	0	3913	768	27	1	590	1	CRMP1	4	5837779	Missense_Mutation	SNP	C	TCGA-CH-5752-01A-11D-1576-08		5837779	185316497	19	591											
USP38	84640	broad.mit.edu	37	chr4	144133502	144133502	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcacctcggatattctttgAggcttccagacctccatggt	7	12	9	13	2	1	2	0	1	1	1	4	3	3	3	4	3	0	2	4	3	1	4			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr4:144133502A>G	ENST00000307017.4	+	8	2035	c.1529A>G	c.(1528-1530)gAg>gGg	p.E510G	USP38_ENST00000510377.1_Missense_Mutation_p.E510G	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	510					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.E510G(2)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					ATATTCTTTGAGGCTTCCAGA	0.383													3	232					0	0	0.115264	0	0	G	144133502	A	G	144133502	3	3	13	1	0	0	0	0	1	0	0	0	17129	304	11	3	1559	3	USP38	4	144133502	Missense_Mutation	SNP	A	TCGA-CH-5752-01A-11D-1576-08	138295723	144133502	47020774	20	592											
TAS2R1	50834	broad.mit.edu	37	chr5	9629679	9629679	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgggagaaaaatttccttaGgaagtatgggaccataaacc	15	10	10	6	0	0	1	0	0	0	1	1	4	1	3	3	3	1	1	3	3	7	5			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr5:9629679G>A	ENST00000382492.2	-	1	784	c.466C>T	c.(466-468)Cta>Tta	p.L156L	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	156					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity	p.L156L(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						AATTTCCTTAGGAAGTATGGG	0.393													8	151					0	0	0.307466	0	0	A	9629679	G	A	9629679	2	1	13	1	0	0	0	0	0	0	0	1	15622	991	35	2		2	TAS2R1	5	9629679	Silent	SNP	G	TCGA-CH-5752-01A-11D-1576-08		9629679	171285581	21	593											
MSH3	4437	broad.mit.edu	37	chr5	79961132	79961132	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgatatcagtcttctacacGcaaagaatgcagtttcttct	12	14	6	9	1	5	2	1	1	4	1	5	2	5	2	0	0	2	3	0	0	4	5			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr5:79961132G>A	ENST00000265081.6	+	3	609	c.529G>A	c.(529-531)Gca>Aca	p.A177T		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	177	Interaction with EXO1.				maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding	p.A168T(1)|p.A177T(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		TCTTCTACACGCAAAGAATGC	0.388								Mismatch excision repair (MMR)					45	67					0	0	0.870114	0	0	A	79961132	G	A	79961132	3	1	13	1	0	0	0	0	1	0	0	0	9920	1087	38	1	539	1	MSH3	5	79961132	Missense_Mutation	SNP	G	TCGA-CH-5752-01A-11D-1576-08	70331453	79961132	100954128	22	594											
TMED9	54732	broad.mit.edu	37	chr5	177022271	177022271	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttatattcccctgcagtggCgagaggagcgcttccggcag	7	9	13	12	3	0	1	0	0	0	1	2	3	2	2	3	3	2	3	3	3	2	4			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr5:177022271C>T	ENST00000332598.6	+	5	619	c.562C>T	c.(562-564)Cga>Tga	p.R188*		NM_017510.4	NP_059980.2	Q9BVK6	TMED9_HUMAN	transmembrane emp24 protein transport domain containing 9	188					transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane		p.R188*(1)		endometrium(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(2)	10	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCTGCAGTGGCGAGAGGAGCG	0.602													29	62					0	0	0.740014	0	0	T	177022271	C	T	177022271	4	4	13	1	0	0	0	0	0	1	0	0	16072	760	27	1	580	1	TMED9	5	177022271	Nonsense_Mutation	SNP	C	TCGA-CH-5752-01A-11D-1576-08	97061139	177022271	3892989	23	595											
TRAM2	9697	broad.mit.edu	37	chr6	52400646	52400646	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcagtcttggctgtgaccTgtaaaacaaaggaaaagagt	15	8	12	6	0	1	2	0	1	1	1	1	3	1	3	1	3	1	3	1	3	5	2			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr6:52400646T>A	ENST00000182527.3	-	2	120		c.e2-2			NM_012288.3	NP_036420.1	Q15035	TRAM2_HUMAN	translocation associated membrane protein 2						collagen biosynthetic process|protein transport|transmembrane transport	integral to membrane	protein binding	p.?(1)		endometrium(3)|large_intestine(1)|lung(7)|prostate(1)|skin(1)	13	Lung NSC(77;0.109)					GGCTGTGACCTGTAAAACAAA	0.438													3	88					0	0	0.115264	0	0	A	52400646	T	A	52400646	5	1	13	1	0	0	0	0	0	0	1	0	16514	1594	55	5	1033	5	TRAM2	6	52400646	Splice_Site	SNP	T	TCGA-CH-5752-01A-11D-1576-08		52400646	118714421	24	596											
LAMA2	3908	broad.mit.edu	37	chr6	129601260	129601260	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggattgatctgtgatggatgCcctgtcgggtacacaggacc	8	10	14	9	1	1	2	0	2	1	0	2	5	1	5	2	4	2	1	2	4	1	2			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr6:129601260C>T	ENST00000421865.2	+	18	2554	c.2505C>T	c.(2503-2505)tgC>tgT	p.C835C		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	835	Laminin EGF-like 7.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.C835C(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GTGATGGATGCCCTGTCGGGT	0.453													4	77					0	0	0.150653	0	0	T	129601260	C	T	129601260	2	4	13	1	0	0	0	0	0	0	0	1	8645	747	26	2		2	LAMA2	6	129601260	Silent	SNP	C	TCGA-CH-5752-01A-11D-1576-08	77200614	129601260	41513807	25	597											
CROT	54677	broad.mit.edu	37	chr7	86990868	86990868	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctctttggcataacttgaacTactggcagctattaagaaag	13	12	8	8	0	1	2	0	1	1	1	1	2	1	2	0	2	4	3	0	2	6	6			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr7:86990868T>A	ENST00000331536.3	+	5	588	c.403T>A	c.(403-405)Tac>Aac	p.Y135N	CROT_ENST00000442291.1_Missense_Mutation_p.Y135N|CROT_ENST00000419147.2_Missense_Mutation_p.Y163N	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	135					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity	p.Y135N(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	TAACTTGAACTACTGGCAGCT	0.398													6	178					0	0	0.217242	0	0	A	86990868	T	A	86990868	3	1	13	1	0	0	0	0	1	0	0	0	3917	1522	53	5	501	5	CROT	7	86990868	Missense_Mutation	SNP	T	TCGA-CH-5752-01A-11D-1576-08		86990868	72147795	26	598											
ABCB4	5244	broad.mit.edu	37	chr7	87082328	87082328	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctatttcctgtcgtagaatAgcatgaaaaaacttctgcct	12	13	6	10	1	1	2	0	1	1	1	3	2	2	2	3	0	3	2	3	0	7	5			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr7:87082328A>G	ENST00000265723.4	-	6	579	c.468T>C	c.(466-468)gcT>gcC	p.A156A	ABCB4_ENST00000359206.3_Silent_p.A156A|ABCB4_ENST00000358400.3_Silent_p.A156A|ABCB4_ENST00000545634.1_Silent_p.A156A|ABCB4_ENST00000453593.1_Silent_p.A156A	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	156	ABC transmembrane type-1 1.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	p.A156A(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					GTCGTAGAATAGCATGAAAAA	0.413													3	189					0	0	0.115264	0	0	G	87082328	A	G	87082328	2	3	13	1	0	0	0	0	0	0	0	1	43	407	15	3		3	ABCB4	7	87082328	Silent	SNP	A	TCGA-CH-5752-01A-11D-1576-08	91460	87082328	72056335	27	599											
GALNT11	63917	broad.mit.edu	37	chr7	151814291	151814291	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagacgaaaagctatggcaAtatcagtgagcgtgtggaac	15	7	13	6	2	1	2	1	1	0	1	1	5	1	3	0	2	3	2	0	2	7	2			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr7:151814291A>G	ENST00000434507.1	+	11	1720	c.1283A>G	c.(1282-1284)aAt>aGt	p.N428S	GALNT11_ENST00000452146.2_Missense_Mutation_p.N347S|GALNT11_ENST00000320311.2_Missense_Mutation_p.N428S|GALNT11_ENST00000430044.2_Missense_Mutation_p.N428S			Q8NCW6	GLT11_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)	428						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.N428S(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		AGCTATGGCAATATCAGTGAG	0.348													104	238					0	0	0.870114	0	0	G	151814291	A	G	151814291	3	3	13	1	0	0	0	0	1	0	0	0	6249	101	4	3	1313	3	GALNT11	7	151814291	Missense_Mutation	SNP	A	TCGA-CH-5752-01A-11D-1576-08	64731963	151814291	7324372	28	600											
ST18	9705	broad.mit.edu	37	chr8	53045685	53045685	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccacctttccttgcacgaggGcatccggacaagctgaaata	11	8	9	13	2	0	1	0	1	0	0	2	3	2	2	4	2	2	3	4	2	3	3			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr8:53045685G>A	ENST00000276480.7	-	21	3059	c.2376C>T	c.(2374-2376)tgC>tgT	p.C792C		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	792						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.C792C(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TTGCACGAGGGCATCCGGACA	0.468													4	233					0	0	0.150653	0	0	A	53045685	G	A	53045685	2	1	13	1	0	0	0	0	0	0	0	1	15268	1195	42	2		2	ST18	8	53045685	Silent	SNP	G	TCGA-CH-5752-01A-11D-1576-08		53045685	93318337	29	601											
NBN	4683	broad.mit.edu	37	chr8	90955524	90955524	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctagttctgtattctttCgagcatgatgagctattaga	9	17	8	7	1	3	3	0	2	3	1	4	4	3	3	0	0	2	4	0	0	4	8			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr8:90955524C>A	ENST00000265433.3	-	14	2295	c.2141G>T	c.(2140-2142)cGa>cTa	p.R714L	NBN_ENST00000409330.1_Missense_Mutation_p.R632L	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	714					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding	p.R714L(1)		autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TGTATTCTTTCGAGCATGATG	0.398								Homologous recombination					4	255					0.014758	0.0166906	0.184627	1	0	A	90955524	C	A	90955524	3	1	13	1	0	0	0	0	1	0	0	0	10239	884	31	4	135	4	NBN	8	90955524	Missense_Mutation	SNP	C	TCGA-CH-5752-01A-11D-1576-08	37909839	90955524	55408498	30	602											
DSCC1	79075	broad.mit.edu	37	chr8	120850633	120850638	+	In_Frame_Del	DEL	CACCAG	CACCAG	-																															tctggtctcgagtgtctatcCaccagcgctaaaccctacaa																										TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr8:120850633_120850638delCACCAG	ENST00000313655.4	-	8	1148_1153	c.934_939delCTGGTG	c.(934-939)del	p.LV312del		NM_024094.2	NP_076999.2	Q9BVC3	DCC1_HUMAN	DNA replication and sister chromatid cohesion 1	312					DNA replication|maintenance of mitotic sister chromatid cohesion|post-translational protein acetylation|regulation of DNA replication	chromatin|chromosome, centromeric region|nucleoplasm	DNA binding|protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|pancreas(1)	9	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AGTGTCTATCCACCAGCGCTAAACCC	0.364													47	170	---	---	---	---						-	120850638	CACCAG	-	120850633	7	5	13	1	0	1	0	1	0	0	0	0	4796	581	21	0	250	0	DSCC1	8	120850633	In_Frame_Del	DEL	CACCAG	TCGA-CH-5752-01A-11D-1576-08	29895109	120850633	25513389	31	603											
CYC1	1537	broad.mit.edu	37	chr8	145151373	145151373	+	Frame_Shift_Del	DEL	A	A	-																															caacggagcattgccccctgAcctcagctacatcgtgcgag																										TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr8:145151373delA	ENST00000318911.4	+	4	660	c.587delA	c.(586-588)gcfs	p.D196fs		NM_001916.3	NP_001907.2	P08574	CY1_HUMAN	cytochrome c-1	196	Cytochrome c.				respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TTGCCCCCTGACCTCAGCTAC	0.577											OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	145	---	---	---	---						-	145151373	A	-	145151373	7	5	13	1	0	1	0	1	0	0	0	0	4158	275	10	0	601	0	CYC1	8	145151373	Frame_Shift_Del	DEL	A	TCGA-CH-5752-01A-11D-1576-08	24300740	145151373	1212649	32	604											
TRPM6	140803	broad.mit.edu	37	chr9	77448983	77448983	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attccaactgtccagattttTctcaaggaatgagaggaatg	13	12	9	7	0	1	2	1	1	1	2	4	5	3	4	2	2	1	0	2	2	4	3			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr9:77448983T>G	ENST00000451710.3	-	6	837	c.600A>C	c.(598-600)agA>agC	p.R200S	TRPM6_ENST00000359047.2_Missense_Mutation_p.R200S|TRPM6_ENST00000376872.3_Missense_Mutation_p.R200S|TRPM6_ENST00000449912.2_Missense_Mutation_p.R195S|TRPM6_ENST00000376864.4_Missense_Mutation_p.R200S|TRPM6_ENST00000376871.3_Missense_Mutation_p.R200S|TRPM6_ENST00000361255.3_Missense_Mutation_p.R195S|TRPM6_ENST00000360774.1_Missense_Mutation_p.R200S			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	200					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	p.R200S(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TCCAGATTTTTCTCAAGGAAT	0.403													12	186					0	0	0.38729	0	0	G	77448983	T	G	77448983	3	3	13	1	0	0	0	0	1	0	0	0	16651	1780	62	5	5604	5	TRPM6	9	77448983	Missense_Mutation	SNP	T	TCGA-CH-5752-01A-11D-1576-08		77448983	63764448	33	605											
C9orf84	158401	broad.mit.edu	37	chr9	114489999	114490000	+	Frame_Shift_Ins	INS	-	-	CCAAA																															aataaagtcgctcaaaaggtINSccaaatcattctcttgtttt																										TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr9:114489999_114490000insCCAAA	ENST00000394779.3	-	9	1682_1683	c.1438_1439insTTTGG	c.(1438-1440)cctfs	p.P480fs	C9orf84_ENST00000394777.4_Frame_Shift_Ins_p.P480fs|C9orf84_ENST00000318737.4_Frame_Shift_Ins_p.P519fs|C9orf84_ENST00000374287.3_Frame_Shift_Ins_p.P519fs	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	519										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GCTCAAAAGGTCCAAATCATTC	0.332													22	326	---	---	---	---						CCAAA	114490000	-	CCAAA	114489999	7	5	13	1	0	1	1	0	0	0	0	0	2518	1667	58	0	2842	0	C9orf84	9	114489999	Frame_Shift_Ins	INS	-	TCGA-CH-5752-01A-11D-1576-08	37041016	114489999	26723432	34	606											
CUBN	8029	broad.mit.edu	37	chr10	17032435	17032435	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctaatgtaccagatacaCtccttgtttggtggatacct	9	14	8	10	0	0	1	0	0	0	1	2	2	2	2	4	2	3	2	4	2	4	6			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr10:17032435C>T	ENST00000377833.4	-	29	4313	c.4248G>A	c.(4246-4248)gaG>gaA	p.E1416E		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1416	CUB 9.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.E1416E(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACCAGATACACTCCTTGTTTG	0.517													13	147					0	0	0.435327	0	0	T	17032435	C	T	17032435	2	4	13	1	0	0	0	0	0	0	0	1	4074	564	20	2		2	CUBN	10	17032435	Silent	SNP	C	TCGA-CH-5752-01A-11D-1576-08		17032435	118502312	35	607											
NRG3	10718	broad.mit.edu	37	chr10	84745233	84745233	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagactacgaactggccagcGtagaaaccgaggacagtgca	15	4	12	10	3	0	2	0	0	0	2	0	5	0	3	2	2	5	2	2	2	5	2	rs143042604	byFrequency	TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr10:84745233G>A	ENST00000372142.2	+	11	1646	c.1372G>A	c.(1372-1374)Gta>Ata	p.V458I	NRG3_ENST00000404576.2_Missense_Mutation_p.V459I|NRG3_ENST00000372141.2_Missense_Mutation_p.V655I|NRG3_ENST00000556918.1_Missense_Mutation_p.V485I|NRG3_ENST00000404547.1_Missense_Mutation_p.V679I|NRG3_ENST00000545131.1_Missense_Mutation_p.V305I|NRG3_ENST00000537893.1_Missense_Mutation_p.V305I	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN	neuregulin 3	679					regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	p.V655I(1)|p.V458I(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		ACTGGCCAGCGTAGAAACCGA	0.473													45	52					0	0	0.840704	0	0	A	84745233	G	A	84745233	3	1	13	1	0	0	0	0	1	0	0	0	10697	1145	40	1	2241	1	NRG3	10	84745233	Missense_Mutation	SNP	G	TCGA-CH-5752-01A-11D-1576-08	67712798	84745233	50789514	36	608											
ZNF518A	9849	broad.mit.edu	37	chr10	97916435	97916435	+	RNA	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgcaaaaatactcaattTcagctgtttaaaatgccgag	14	12	7	8	1	3	0	2	0	1	0	3	1	3	0	1	0	4	3	1	0	6	4			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr10:97916435T>G	ENST00000534948.1	+	0	1213							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F119C(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		ATACTCAATTTCAGCTGTTTA	0.388													13	277					0	0	0.435327	0	0	G	97916435	T	G	97916435	1	3	13	0	1	0	0	0	0	0	0	0	18019	1783	62	5		5	ZNF518A	10	97916435	RNA	SNP	T	TCGA-CH-5752-01A-11D-1576-08	13171202	97916435	37618312	37	609											
DAK	26007	broad.mit.edu	37	chr11	61111398	61111398	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	actgggcggaagcggagccgGgtagcccctgccgagcccca	7	3	16	15	4	0	0	0	0	0	0	0	3	0	2	6	4	5	1	6	4	2	1			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr11:61111398G>A	ENST00000394900.3	+	12	1282	c.1053G>A	c.(1051-1053)cgG>cgA	p.R351R		NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	351					glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding	p.R351R(1)		NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						AGCGGAGCCGGGTAGCCCCTG	0.602													6	85					0	0	0.27861	0	0	A	61111398	G	A	61111398	2	1	13	1	0	0	0	0	0	0	0	1	4252	1219	43	2		2	DAK	11	61111398	Silent	SNP	G	TCGA-CH-5752-01A-11D-1576-08		61111398	73895118	38	610											
FAT3	120114	broad.mit.edu	37	chr11	92568131	92568131	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggcaccccagctctcagcGctgtggccactgtcaacatc	7	7	11	16	1	2	0	2	0	1	0	4	0	2	0	3	3	3	3	3	3	1	0			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr11:92568131G>A	ENST00000298047.6	+	14	9984	c.9967G>A	c.(9967-9969)Gct>Act	p.A3323T	FAT3_ENST00000409404.2_Missense_Mutation_p.A3323T|FAT3_ENST00000525166.1_Missense_Mutation_p.A3173T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3323	Cadherin 30.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.A3323T(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGCTCTCAGCGCTGTGGCCAC	0.498										TCGA Ovarian(4;0.039)			17	17					0	0	0.500413	0	0	A	92568131	G	A	92568131	3	1	13	1	0	0	0	0	1	0	0	0	5724	1087	38	1	10021	1	FAT3	11	92568131	Missense_Mutation	SNP	G	TCGA-CH-5752-01A-11D-1576-08	31456733	92568131	42438385	39	611											
CDKN1B	1027	broad.mit.edu	37	chr12	12870803	12870803	+	Frame_Shift_Del	DEL	C	C	-																															gtgcgagtgtctaacgggagCcctagcctggagcggatgga																										TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr12:12870803delC	ENST00000228872.4	+	1	746	c.30delC	c.(28-30)agfs	p.S10fs	CDKN1B_ENST00000396340.1_Frame_Shift_Del_p.S10fs|CDKN1B_ENST00000477087.1_Intron	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)	10					autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		CTAACGGGAGCCCTAGCCTGG	0.607													10	77	---	---	---	---						-	12870803	C	-	12870803	7	5	13	1	0	1	0	1	0	0	0	0	3181	738	26	0	32	0	CDKN1B	12	12870803	Frame_Shift_Del	DEL	C	TCGA-CH-5752-01A-11D-1576-08		12870803	120981092	40	612											
ARID2	196528	broad.mit.edu	37	chr12	46246234	46246241	+	Frame_Shift_Del	DEL	GTGGTACT	GTGGTACT	-																															tgcggcaacacagcaatttaGtggtactgatttgcttaatg																										TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr12:46246234_46246241delGTGGTACT	ENST00000334344.6	+	15	4500_4507	c.4328_4335delGTGGTACT	c.(4327-4335)afs	p.SGT1443fs	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000457135.1_Frame_Shift_Del_p.SGT51fs|ARID2_ENST00000444670.1_Frame_Shift_Del_p.SGT1053fs|ARID2_ENST00000422737.1_Frame_Shift_Del_p.SGT1294fs	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1443					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CAGCAATTTAGTGGTACTGATTTGCTTA	0.418			"N, S, F"		hepatocellular carcinoma								67	315	---	---	---	---						-	46246241	GTGGTACT	-	46246234	7	5	13	1	0	1	0	1	0	0	0	0	912	1029	36	0	4386	0	ARID2	12	46246234	Frame_Shift_Del	DEL	GTGGTACT	TCGA-CH-5752-01A-11D-1576-08	33375431	46246234	87605661	41	613											
LHX5	64211	broad.mit.edu	37	chr12	113909233	113909233	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacacatttgatgtgccacGcgcggtccagcacgttcagc	9	8	11	13	4	1	1	1	1	0	0	2	2	2	1	2	1	4	2	2	1	1	2			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr12:113909233G>A	ENST00000261731.3	-	1	644	c.71C>T	c.(70-72)gCg>gTg	p.A24V		NM_022363.2	NP_071758.1	Q9H2C1	LHX5_HUMAN	LIM homeobox 5	24	LIM zinc-binding 1.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A24V(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	10						GATGTGCCACGCGCGGTCCAG	0.612													3	16					0	0	0.115264	0	0	A	113909233	G	A	113909233	3	1	13	1	0	0	0	0	1	0	0	0	8814	1087	38	1	1157	1	LHX5	12	113909233	Missense_Mutation	SNP	G	TCGA-CH-5752-01A-11D-1576-08	67662999	113909233	19942662	42	614											
SCARB1	949	broad.mit.edu	37	chr12	125348169	125348169	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgctgcttgatgagcgacGgcaccatcacgatcatgaca	10	8	10	13	3	2	3	2	3	0	0	2	5	2	3	2	1	3	3	2	1	0	1			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr12:125348169G>C	ENST00000339570.5	-	1	294	c.98C>G	c.(97-99)cCg>cGg	p.P33R	SCARB1_ENST00000376788.1_Missense_Mutation_p.P33R|SCARB1_ENST00000261693.6_Missense_Mutation_p.P33R|SCARB1_ENST00000546215.1_Missense_Mutation_p.P33R|SCARB1_ENST00000415380.2_Missense_Mutation_p.P33R|SCARB1_ENST00000535005.1_Intron	NM_001082959.1	NP_001076428.1	Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	33					adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity	p.P33R(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	GATGAGCGACGGCACCATCAC	0.716													3	15					0	0	0.115264	0	0	C	125348169	G	C	125348169	3	2	13	1	0	0	0	0	1	0	0	0	13934	1116	39	4	1603	4	SCARB1	12	125348169	Missense_Mutation	SNP	G	TCGA-CH-5752-01A-11D-1576-08	11438936	125348169	8503726	43	615											
TPTE2	93492	broad.mit.edu	37	chr13	20024290	20024290	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcatttacttccttggtgAaaaccaccatctcactgatt	11	14	4	12	0	2	2	2	2	1	0	4	2	3	2	3	1	2	0	3	1	3	5			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr13:20024290A>G	ENST00000400230.2	-	13	943	c.899T>C	c.(898-900)tTc>tCc	p.F300S	TPTE2_ENST00000457266.2_Missense_Mutation_p.F189S|TPTE2_ENST00000255310.6_Missense_Mutation_p.F223S|TPTE2_ENST00000382975.4_Missense_Mutation_p.F260S|TPTE2_ENST00000390680.2_Missense_Mutation_p.F223S|TPTE2_ENST00000382978.1_Missense_Mutation_p.F260S|TPTE2_ENST00000382977.4_Missense_Mutation_p.F300S|TPTE2_ENST00000400103.2_Missense_Mutation_p.F189S			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	300	Phosphatase tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.F300S(1)|p.F223S(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		TTCCTTGGTGAAAACCACCAT	0.323													11	185					0	0	0.500413	0	0	G	20024290	A	G	20024290	3	3	13	1	0	0	0	0	1	0	0	0	16492	246	9	3	701	3	TPTE2	13	20024290	Missense_Mutation	SNP	A	TCGA-CH-5752-01A-11D-1576-08		20024290	95145588	44	616											
USP12	219333	broad.mit.edu	37	chr13	27649444	27649444	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actacccggtaagagagtttTgtatatcgatgaagttgatc	12	13	10	6	2	0	3	0	2	0	1	2	5	0	3	1	1	1	4	1	1	5	7			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr13:27649444T>A	ENST00000282344.6	-	7	1072	c.816A>T	c.(814-816)acA>acT	p.T272T		NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN	ubiquitin specific peptidase 12	272					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.T272T(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		AAGAGAGTTTTGTATATCGAT	0.358													42	61					0	0	0.819951	0	0	A	27649444	T	A	27649444	2	1	13	1	0	0	0	0	0	0	0	1	17103	1799	63	5		5	USP12	13	27649444	Silent	SNP	T	TCGA-CH-5752-01A-11D-1576-08	7625154	27649444	87520434	45	617											
PARP2	10038	broad.mit.edu	37	chr14	20822982	20822982	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgcagggaagctgacagtgGcacaaatcaaggcaggttac	13	6	13	9	0	1	1	1	1	0	0	1	2	1	2	0	4	3	5	0	4	4	1			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr14:20822982G>A	ENST00000527915.1	+	9	822	c.817G>A	c.(817-819)Gca>Aca	p.A273T	PARP2_ENST00000250416.5_Missense_Mutation_p.A273T|PARP2_ENST00000429687.3_Missense_Mutation_p.A260T			Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	273	PARP alpha-helical.				protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity	p.A273T(1)|p.A224T(1)		central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		GCTGACAGTGGCACAAATCAA	0.468								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					4	264					0	0	0.217242	0	0	A	20822982	G	A	20822982	3	1	13	1	0	0	0	0	1	0	0	0	11508	1203	42	2	851	2	PARP2	14	20822982	Missense_Mutation	SNP	G	TCGA-CH-5752-01A-11D-1576-08		20822982	86526558	46	618											
TECPR2	9895	broad.mit.edu	37	chr14	102891314	102891314	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctttctttcttctaattttAgtactgggaaatttggtgct	7	21	7	6	0	4	0	0	0	4	0	4	1	4	1	0	2	2	2	0	2	4	8			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr14:102891314A>T	ENST00000359520.7	+	6	864		c.e6-1		TECPR2_ENST00000558678.1_Splice_Site|TECPR2_ENST00000561228.1_Intron	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2								protein binding	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						TTCTAATTTTAGTACTGGGAA	0.383													4	137					0	0	0.150653	0	0	T	102891314	A	T	102891314	5	4	13	1	0	0	0	0	0	0	1	0	15803	434	15	5	655	5	TECPR2	14	102891314	Splice_Site	SNP	A	TCGA-CH-5752-01A-11D-1576-08	82068332	102891314	4458226	47	619											
MARK3	4140	broad.mit.edu	37	chr14	103918266	103918266	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcccgcagtgaagttattcGaagtcattgaaactgaaaaa	15	10	8	8	2	1	3	1	3	0	0	3	4	2	3	1	0	1	2	1	0	6	3			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr14:103918266G>A	ENST00000429436.2	+	5	868	c.358G>A	c.(358-360)Gaa>Aaa	p.E120K	MARK3_ENST00000553942.1_Missense_Mutation_p.E120K|MARK3_ENST00000416682.2_Missense_Mutation_p.E120K|MARK3_ENST00000561071.1_3'UTR|MARK3_ENST00000335102.5_Missense_Mutation_p.E120K|MARK3_ENST00000303622.9_Missense_Mutation_p.E120K|MARK3_ENST00000440884.3_Missense_Mutation_p.E120K|MARK3_ENST00000216288.7_Missense_Mutation_p.E120K	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	120	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity	p.E120K(4)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			GAAGTTATTCGAAGTCATTGA	0.353													26	337					0	0	0.693898	0	0	A	103918266	G	A	103918266	3	1	13	1	0	0	0	0	1	0	0	0	9364	1059	37	1	376	1	MARK3	14	103918266	Missense_Mutation	SNP	G	TCGA-CH-5752-01A-11D-1576-08	1026952	103918266	3431274	48	620											
TJP1	7082	broad.mit.edu	37	chr15	30025006	30025006	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtgtatactgtacactggCtagctgctcagctctacaca	11	11	8	11	0	2	0	1	0	1	0	2	0	2	0	0	1	6	6	0	1	6	5			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr15:30025006C>A	ENST00000346128.6	-	14	2224	c.1750G>T	c.(1750-1752)Gcc>Tcc	p.A584S	TJP1_ENST00000356107.6_Missense_Mutation_p.A584S|TJP1_ENST00000400011.2_Missense_Mutation_p.A588S|TJP1_ENST00000545208.2_Missense_Mutation_p.A584S	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	584	SH3.				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		p.A584S(1)		breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TGTACACTGGCTAGCTGCTCA	0.403													40	45					7.63091e-17	9.53864e-17	0.834066	1	0	A	30025006	C	A	30025006	3	1	13	1	0	0	0	0	1	0	0	0	15989	797	28	4	3556	4	TJP1	15	30025006	Missense_Mutation	SNP	C	TCGA-CH-5752-01A-11D-1576-08		30025006	72506386	49	621											
ARHGAP11B	89839	broad.mit.edu	37	chr15	30925726	30925726	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcttgcacatctttagaagaAcatattcataccgaagggct	13	11	8	9	1	2	2	1	0	1	2	2	3	2	2	1	1	3	3	1	1	6	6			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr15:30925726A>C	ENST00000428041.2	+	3	379	c.234A>C	c.(232-234)gaA>gaC	p.E78D		NM_001039841.1	NP_001034930.1	Q3KRB8	RHGBB_HUMAN	Rho GTPase activating protein 11B	78	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.E78D(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	8		all_lung(180;2.71e-09)|Breast(32;0.00116)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		CTTTAGAAGAACATATTCATA	0.373													4	186					0	0	0.150653	0	0	C	30925726	A	C	30925726	3	2	13	1	0	0	0	0	1	0	0	0	861	40	2	5	244	5	ARHGAP11B	15	30925726	Missense_Mutation	SNP	A	TCGA-CH-5752-01A-11D-1576-08	900720	30925726	71605666	50	622											
DET1	55070	broad.mit.edu	37	chr15	89074916	89074916	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggattcttcgaggcttgatGgtagaaacatgatgatccat	11	13	11	6	1	1	4	0	3	1	1	3	6	2	5	1	3	1	2	1	3	2	4			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr15:89074916G>A	ENST00000564406.1	-	3	214	c.54C>T	c.(52-54)acC>acT	p.T18T	DET1_ENST00000444300.1_Silent_p.T18T|DET1_ENST00000268148.8_Silent_p.T7T|DET1_ENST00000558413.1_Silent_p.T7T	NM_017996.3	NP_060466.2	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	7						nucleus		p.T18T(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			GAGGCTTGATGGTAGAAACAT	0.413													3	106					0	0	0.115264	0	0	A	89074916	G	A	89074916	2	1	13	1	0	0	0	0	0	0	0	1	4478	1335	47	2		2	DET1	15	89074916	Silent	SNP	G	TCGA-CH-5752-01A-11D-1576-08	58149190	89074916	13456476	51	623											
CRISPLD2	83716	broad.mit.edu	37	chr16	84906612	84906612	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgccagtcgtctagcatatgCcgcgccgccatccactacgg	7	7	10	17	6	1	0	0	0	1	0	3	0	2	0	5	1	3	1	5	1	3	3			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr16:84906612C>T	ENST00000262424.5	+	10	1220	c.996C>T	c.(994-996)tgC>tgT	p.C332C	CRISPLD2_ENST00000564567.1_Silent_p.C332C|CRISPLD2_ENST00000567845.1_Silent_p.C331C	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain containing 2	332	LCCL 1.					extracellular region|transport vesicle		p.C332C(1)		endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						CTAGCATATGCCGCGCCGCCA	0.542													5	184					0	0	0.184627	0	0	T	84906612	C	T	84906612	2	4	13	1	0	0	0	0	0	0	0	1	3906	747	26	2		2	CRISPLD2	16	84906612	Silent	SNP	C	TCGA-CH-5752-01A-11D-1576-08		84906612	5448141	52	624											
KRTAP3-3	85293	broad.mit.edu	37	chr17	39150166	39150166	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcaggaagcaggtgggcaCgcagggctgaggaatgtggc	10	4	20	7	1	0	1	0	1	0	0	0	4	0	3	0	6	2	5	0	6	2	0	rs146610892	byFrequency	TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr17:39150166C>T	ENST00000391586.1	-	1	219	c.184G>A	c.(184-186)Gtg>Atg	p.V62M		NM_033185.2	NP_149441.1	Q9BYR6	KRA33_HUMAN	keratin associated protein 3-3	62						keratin filament	structural molecule activity	p.V62M(1)		lung(2)|prostate(2)	4		Breast(137;0.00043)				CAGGTGGGCACGCAGGGCTGA	0.632													5	149					0	0	0.184627	0	0	T	39150166	C	T	39150166	3	4	13	1	0	0	0	0	1	0	0	0	8591	536	19	1	116	1	KRTAP3-3	17	39150166	Missense_Mutation	SNP	C	TCGA-CH-5752-01A-11D-1576-08		39150166	42045044	53	625											
DHX40	79665	broad.mit.edu	37	chr17	57679935	57679935	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccctaaacatgaagtactacGaagatgtctttgtgcgggct	11	11	10	9	2	1	2	0	1	1	1	1	3	1	2	1	1	4	2	1	1	6	4			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr17:57679935G>A	ENST00000451169.2	+	18	2074	c.1715G>A	c.(1714-1716)cGa>cAa	p.R572Q	DHX40_ENST00000425628.3_Missense_Mutation_p.R543Q|DHX40_ENST00000251241.4_Missense_Mutation_p.R620Q			Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	620							ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.R620Q(3)		endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GAAGTACTACGAAGATGTCTT	0.338													50	109					0	0	0.870114	0	0	A	57679935	G	A	57679935	3	1	13	1	0	0	0	0	1	0	0	0	4540	1058	37	1	1917	1	DHX40	17	57679935	Missense_Mutation	SNP	G	TCGA-CH-5752-01A-11D-1576-08	18529769	57679935	23515275	54	626											
PITPNC1	26207	broad.mit.edu	37	chr17	65688807	65688807	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccctgctgccttcttccGtccgcagtgcgccttctagt	2	13	8	18	3	2	0	0	0	2	0	5	0	5	0	6	0	3	2	6	0	1	4			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr17:65688807G>A	ENST00000335257.6	+	9	1149	c.802G>A	c.(802-804)Gtc>Atc	p.V268I	PITPNC1_ENST00000581322.1_Missense_Mutation_p.V268I|PITPNC1_ENST00000299954.9_3'UTR|PITPNC1_ENST00000580974.1_3'UTR			Q9UKF7	PITC1_HUMAN	phosphatidylinositol transfer protein, cytoplasmic 1	268					signal transduction	cytoplasm	lipid binding|phosphatidylinositol transporter activity|protein binding	p.V268I(2)		breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			GCCTTCTTCCGTCCGCAGTGC	0.557													34	153					0	0	0.769981	0	0	A	65688807	G	A	65688807	3	1	13	1	0	0	0	0	1	0	0	0	11997	1145	40	1	959	1	PITPNC1	17	65688807	Missense_Mutation	SNP	G	TCGA-CH-5752-01A-11D-1576-08	8008872	65688807	15506403	55	627											
MED16	10025	broad.mit.edu	37	chr19	881676	881676	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagatcgttggtggccgataGgatccgccatttgagaattg	9	11	13	8	3	0	2	0	1	0	2	2	5	1	3	3	3	0	1	3	3	2	4			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr19:881676G>T	ENST00000312090.6	-	7	1174	c.1024C>A	c.(1024-1026)Cta>Ata	p.L342I	MED16_ENST00000606828.1_Intron|MED16_ENST00000269814.4_Missense_Mutation_p.L342I|MED16_ENST00000325464.1_Missense_Mutation_p.L342I|MED16_ENST00000395808.3_Missense_Mutation_p.L342I|MED16_ENST00000589119.1_Missense_Mutation_p.L342I			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	342					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding	p.L342I(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGGCCGATAGGATCCGCCAT	0.577													4	136					0.184627	0.194884	0.184627	1	0	T	881676	G	T	881676	3	4	13	1	0	0	0	0	1	0	0	0	9484	991	35	4	1649	4	MED16	19	881676	Missense_Mutation	SNP	G	TCGA-CH-5752-01A-11D-1576-08		881676	58247307	56	628											
RYR1	6261	broad.mit.edu	37	chr19	38976722	38976722	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgctggaggccctgcgggaCaaggcactgaggatgctggg	7	5	18	11	2	0	1	0	1	0	0	0	4	0	4	2	6	2	3	2	6	1	0			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr19:38976722C>A	ENST00000355481.4	+	34	5558	c.5427C>A	c.(5425-5427)gaC>gaA	p.D1809E	RYR1_ENST00000359596.3_Missense_Mutation_p.D1809E|RYR1_ENST00000360985.3_Missense_Mutation_p.D1809E	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1809	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.D1809E(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCCTGCGGGACAAGGCACTGA	0.711													43	57					8.72198e-27	1.13505e-26	0.870114	1	0	A	38976722	C	A	38976722	3	1	13	1	0	0	0	0	1	0	0	0	13820	477	17	4	5561	4	RYR1	19	38976722	Missense_Mutation	SNP	C	TCGA-CH-5752-01A-11D-1576-08	38095046	38976722	20152261	57	629											
A1BG	1	broad.mit.edu	37	chr19	58863782	58863782	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcctgggcctcaggcacCtccagaaactcatggtcgcc	7	8	9	17	1	2	1	2	0	0	1	6	1	5	1	6	3	1	1	6	3	1	0			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr19:58863782C>T	ENST00000263100.3	-	4	541	c.480G>A	c.(478-480)gaG>gaA	p.E160E	A1BG-AS1_ENST00000595302.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein	160	Ig-like V-type 2.					extracellular region		p.E160E(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		CCTCAGGCACCTCCAGAAACT	0.627													12	207					0	0	0.435327	0	0	T	58863782	C	T	58863782	2	4	13	1	0	0	0	0	0	0	0	1	1	680	24	2		2	A1BG	19	58863782	Silent	SNP	C	TCGA-CH-5752-01A-11D-1576-08	19887060	58863782	265201	58	630											
PHF20	51230	broad.mit.edu	37	chr20	34389529	34389529	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggaccgtttaaaaaactggTacttttacatttttctgtta	11	17	7	6	1	1	0	0	0	1	0	1	1	1	1	1	2	3	3	1	2	6	8			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr20:34389529T>G	ENST00000374012.3	+	2	212		c.e2+2		PHF20_ENST00000481202.1_Splice_Site|PHF20_ENST00000439301.1_Splice_Site			Q9BVI0	PHF20_HUMAN	PHD finger protein 20						regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding	p.?(1)		breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					AAAAAACTGGTACTTTTACAT	0.413													4	74					0	0	0.150653	0	0	G	34389529	T	G	34389529	5	3	13	1	0	0	0	0	0	0	1	0	11879	1652	57	5	87	5	PHF20	20	34389529	Splice_Site	SNP	T	TCGA-CH-5752-01A-11D-1576-08		34389529	28635991	59	631											
MATN4	8785	broad.mit.edu	37	chr20	43926838	43926838	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggcgcgcgctgcccacacCgagatgtcatcctgggagcg	6	7	14	14	5	1	1	1	0	0	1	2	3	2	2	3	2	2	1	3	2	0	1			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr20:43926838C>T	ENST00000537548.1	-	8	1642	c.1398G>A	c.(1396-1398)tcG>tcA	p.S466S	MATN4_ENST00000372754.1_Silent_p.S507S|MATN4_ENST00000360607.5_Silent_p.S425S|MATN4_ENST00000372751.4_Silent_p.S317S|MATN4_ENST00000372756.1_Silent_p.S466S|MATN4_ENST00000342716.4_Silent_p.S466S|MATN4_ENST00000372753.1_Silent_p.S317S|MATN4_ENST00000353917.5_Silent_p.S384S			O95460	MATN4_HUMAN	matrilin 4	507	VWFA 2.					extracellular region	protein binding	p.S466S(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				CTGCCCACACCGAGATGTCAT	0.672													5	73					0	0	0.217242	0	0	T	43926838	C	T	43926838	2	4	13	1	0	0	0	0	0	0	0	1	9386	639	23	1		1	MATN4	20	43926838	Silent	SNP	C	TCGA-CH-5752-01A-11D-1576-08	9537309	43926838	19098682	60	632											
SRMS	6725	broad.mit.edu	37	chr20	62178595	62178595	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcacagagcctgtccccGcggcggacactcagctcccc	7	4	12	18	3	1	1	1	0	0	1	3	2	3	2	5	3	2	2	5	3	0	0			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr20:62178595G>A	ENST00000217188.1	-	1	262	c.222C>T	c.(220-222)cgC>cgT	p.R74R		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	74	SH3.						ATP binding|non-membrane spanning protein tyrosine kinase activity	p.R74R(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			GCCTGTCCCCGCGGCGGACAC	0.701													28	359					0	0	0.740014	0	0	A	62178595	G	A	62178595	2	1	13	1	0	0	0	0	0	0	0	1	15208	1074	38	1		1	SRMS	20	62178595	Silent	SNP	G	TCGA-CH-5752-01A-11D-1576-08	18251757	62178595	846925	61	633											
APOBEC3D	140564	broad.mit.edu	37	chr22	39421246	39421246	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagcaccccaatgtcaccCtgaccatctctgccgcccgc	7	7	7	20	2	2	2	1	2	1	0	3	2	2	2	6	0	2	1	6	0	1	0			TCGA-CH-5752-01A-11D-1576-08	TCGA-CH-5752-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f691ec8f-d3dd-4385-bc02-c29254d37c37	12e9a8b5-35d2-401b-aa04-653ab14c2331	g.chr22:39421246C>T	ENST00000216099.7	+	3	789	c.382C>T	c.(382-384)Ctg>Ttg	p.L128L	APOBEC3D_ENST00000427494.2_Intron|APOBEC3D_ENST00000381568.4_Silent_p.L128L	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D	128					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding	p.L128L(2)		breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					CAATGTCACCCTGACCATCTC	0.572													7	103					0	0	0.27861	0	0	T	39421246	C	T	39421246	2	4	13	1	0	0	0	0	0	0	0	1	789	680	24	2		2	APOBEC3D	22	39421246	Silent	SNP	C	TCGA-CH-5752-01A-11D-1576-08		39421246	11883320	62	634											
HSPG2	3339	broad.mit.edu	37	chr1	22207181	22207181	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacctggcgctggttcagagCaccaggttgggtgggtgtgt	5	10	18	8	1	1	1	1	0	0	1	1	2	1	1	2	5	1	4	2	5	0	2			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr1:22207181C>A	ENST00000374695.3	-	15	2045	c.1966G>T	c.(1966-1968)Gct>Tct	p.A656S		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	656	Laminin IV type A 1.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	p.A656S(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	TGGTTCAGAGCACCAGGTTGG	0.662													12	7					0.00136819	0.00148892	0.411799	1	0	A	22207181	C	A	22207181	3	1	14	1	0	0	0	0	1	0	0	0	7474	710	25	4	11541	4	HSPG2	1	22207181	Missense_Mutation	SNP	C	TCGA-CH-5753-01A-11D-1576-08		22207181	227043440	1	635											
AGL	178	broad.mit.edu	37	chr1	100327247	100327247	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atctgcaacaatctggttcaTttcagtattatttccttcaa	11	17	4	9	0	5	0	3	0	2	0	6	0	6	0	1	1	2	3	1	1	5	6			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr1:100327247T>C	ENST00000294724.4	+	3	749	c.271T>C	c.(271-273)Ttt>Ctt	p.F91L	AGL_ENST00000370165.3_Missense_Mutation_p.F91L|AGL_ENST00000370161.2_Missense_Mutation_p.F75L|AGL_ENST00000370163.3_Missense_Mutation_p.F91L|AGL_ENST00000361522.4_Missense_Mutation_p.F74L|AGL_ENST00000361302.3_Missense_Mutation_p.F75L|AGL_ENST00000361915.3_Missense_Mutation_p.F91L	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	91					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	p.F91L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		ATCTGGTTCATTTCAGTATTA	0.313													37	108					0	0	0.834066	0	0	C	100327247	T	C	100327247	3	2	14	1	0	0	0	0	1	0	0	0	381	1493	52	3	346	3	AGL	1	100327247	Missense_Mutation	SNP	T	TCGA-CH-5753-01A-11D-1576-08	78120066	100327247	148923374	2	636											
NHLH2	4808	broad.mit.edu	37	chr1	116380707	116380707	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atttgcggagctcggcgaagGccaagttgaaggcttccacg	9	8	14	10	4	0	1	0	1	0	0	2	3	1	2	2	4	2	3	2	4	3	3			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr1:116380707G>T	ENST00000369506.1	-	1	5831	c.287C>A	c.(286-288)gCc>gAc	p.A96D	NHLH2_ENST00000320238.3_Missense_Mutation_p.A96D			Q02577	HEN2_HUMAN	nescient helix loop helix 2	96	Helix-loop-helix motif.				cell differentiation|central nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.A96D(1)		prostate(1)	1	Lung SC(450;0.184)	all_cancers(81;1.75e-06)|all_epithelial(167;1.16e-06)|all_lung(203;9.55e-06)|Lung NSC(69;5.83e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CTCGGCGAAGGCCAAGTTGAA	0.672													3	14					0.115264	0.120134	0.115264	1	0	T	116380707	G	T	116380707	3	4	14	1	0	0	0	0	1	0	0	0	10451	1203	42	4	124	4	NHLH2	1	116380707	Missense_Mutation	SNP	G	TCGA-CH-5753-01A-11D-1576-08	16053460	116380707	132869914	3	637											
TDRKH	11022	broad.mit.edu	37	chr1	151751596	151751596	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgccttggctgctgccacttCcttctgtgttcctgagattt	3	17	9	12	0	1	1	0	1	1	1	3	2	3	1	4	1	3	3	4	1	0	5			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr1:151751596C>G	ENST00000368822.1	-	5	1177	c.544G>C	c.(544-546)Gaa>Caa	p.E182Q	TDRKH_ENST00000368827.6_Missense_Mutation_p.E182Q|TDRKH_ENST00000440583.2_5'UTR|TDRKH_ENST00000484421.1_5'UTR|TDRKH_ENST00000368823.1_Missense_Mutation_p.E178Q|TDRKH_ENST00000368825.3_Missense_Mutation_p.E137Q|TDRKH_ENST00000368824.3_Missense_Mutation_p.E182Q|TDRKH_ENST00000458431.2_Missense_Mutation_p.E182Q			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	182	KH 2.						RNA binding	p.E182Q(1)		breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCTGCCACTTCCTTCTGTGTT	0.398													98	293					0	0	0.870114	0	0	G	151751596	C	G	151751596	3	3	14	1	0	0	0	0	1	0	0	0	15796	864	30	4	1177	4	TDRKH	1	151751596	Missense_Mutation	SNP	C	TCGA-CH-5753-01A-11D-1576-08	35370889	151751596	97499025	4	638											
BCAN	63827	broad.mit.edu	37	chr1	156616762	156616762	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgtcccggggccgggaGgcagaggtgctggtggcgcg	3	7	20	11	4	0	1	0	0	0	1	2	2	2	2	3	7	1	2	3	7	0	1			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr1:156616762G>T	ENST00000329117.4	+	3	597	c.261G>T	c.(259-261)gaG>gaT	p.E87D	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.E87D	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	87	Ig-like V-type.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	p.E87D(1)		cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGGGCCGGGAGGCAGAGGTGC	0.706													4	60					0.00116845	0.00129052	0.217242	1	0	T	156616762	G	T	156616762	3	4	14	1	0	0	0	0	1	0	0	0	1343	991	35	4	267	4	BCAN	1	156616762	Missense_Mutation	SNP	G	TCGA-CH-5753-01A-11D-1576-08	4865166	156616762	92633859	5	639											
FAM163A	148753	broad.mit.edu	37	chr1	179782917	179782917	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctgcccttccgcacagtatTactgctgcaagaagagcgga	10	9	10	12	2	1	2	0	0	1	2	2	3	2	3	2	1	5	4	2	1	4	3			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr1:179782917T>C	ENST00000341785.4	+	5	493	c.97T>C	c.(97-99)Tac>Cac	p.Y33H		NM_173509.2	NP_775780.1	Q96GL9	F163A_HUMAN	family with sequence similarity 163, member A	33						integral to membrane		p.Y33H(1)		endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)	15						CGCACAGTATTACTGCTGCAA	0.627													8	59					0	0	0.335167	0	0	C	179782917	T	C	179782917	3	2	14	1	0	0	0	0	1	0	0	0	5506	1754	61	3	103	3	FAM163A	1	179782917	Missense_Mutation	SNP	T	TCGA-CH-5753-01A-11D-1576-08	23166155	179782917	69467704	6	640											
CNTNAP5	129684	broad.mit.edu	37	chr2	125204422	125204422	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcactcggtcctcattgagCgggtgggcaagcaggtgaac	8	7	16	10	2	1	2	1	2	0	0	3	2	2	2	1	5	3	3	1	5	2	1			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr2:125204422C>T	ENST00000431078.1	+	6	1190	c.826C>T	c.(826-828)Cgg>Tgg	p.R276W		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	276	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.R276W(3)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CCTCATTGAGCGGGTGGGCAA	0.597													51	79					0	0	0.870114	0	0	T	125204422	C	T	125204422	3	4	14	1	0	0	0	0	1	0	0	0	3673	759	27	1	848	1	CNTNAP5	2	125204422	Missense_Mutation	SNP	C	TCGA-CH-5753-01A-11D-1576-08		125204422	117994951	7	641											
IMP4	92856	broad.mit.edu	37	chr2	131100711	131100711	+	Frame_Shift_Del	DEL	A	A	-																															cctgtaccgcaaggcccgggAggaggcgcagcgctcagccc																										TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr2:131100711delA	ENST00000259239.3	+	2	764	c.56delA	c.(55-57)ggfs	p.E20fs	IMP4_ENST00000409935.1_Frame_Shift_Del_p.E20fs	NM_033416.1	NP_219484.1	Q96G21	IMP4_HUMAN	IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast)	20	Arg-rich.				rRNA processing|translation	nucleolus|ribonucleoprotein complex	aminoacyl-tRNA ligase activity|ATP binding|protein binding			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	18	Colorectal(110;0.1)					AAGGCCCGGGAGGAGGCGCAG	0.726													2	4	---	---	---	---						-	131100711	A	-	131100711	7	5	14	1	0	1	0	1	0	0	0	0	7764	304	11	0	62	0	IMP4	2	131100711	Frame_Shift_Del	DEL	A	TCGA-CH-5753-01A-11D-1576-08	5896289	131100711	112098662	8	642											
LRP1B	53353	broad.mit.edu	37	chr2	141473656	141473656	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaagttgaaaccatgatctGtccaatatatgttacctagg	13	14	7	7	0	1	2	0	2	1	0	2	2	2	2	3	1	2	2	3	1	7	6			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr2:141473656G>T	ENST00000389484.3	-	37	6880	c.5909C>A	c.(5908-5910)aCa>aAa	p.T1970K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1970					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.T1970K(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACCATGATCTGTCCAATATAT	0.318										TSP Lung(27;0.18)			22	344					3.5997e-14	4.59272e-14	0.624587	1	0	T	141473656	G	T	141473656	3	4	14	1	0	0	0	0	1	0	0	0	9000	1377	48	4	8110	4	LRP1B	2	141473656	Missense_Mutation	SNP	G	TCGA-CH-5753-01A-11D-1576-08	10372945	141473656	101725717	9	643											
TTN	7273	broad.mit.edu	37	chr2	179498718	179498718	+	Frame_Shift_Del	DEL	T	T	-																															tttgaaccagactacatgcaTtttttcatgagaaagttcac																										TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr2:179498718delT	ENST00000589042.1	-	231	42732	c.42508delA	c.(42508-42510)tgfs	p.M14170fs	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Del_p.M5297fs|TTN_ENST00000359218.5_Frame_Shift_Del_p.M5230fs|TTN_ENST00000591111.1_Frame_Shift_Del_p.M12529fs|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Del_p.M5105fs|TTN_ENST00000342992.6_Frame_Shift_Del_p.M11602fs	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12529	Fibronectin type-III 2.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTACATGCATTTTTTCATGA	0.363													249	403	---	---	---	---						-	179498718	T	-	179498718	7	5	14	1	0	1	0	1	0	0	0	0	16797	1493	52	0	65713	0	TTN	2	179498718	Frame_Shift_Del	DEL	T	TCGA-CH-5753-01A-11D-1576-08	38025062	179498718	63700655	10	644											
DOCK3	1795	broad.mit.edu	37	chr3	50879110	50879110	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttatgctttgttttaggttgGtacagaggagtttcaacaaa	11	16	10	4	0	1	1	1	0	0	1	1	2	1	2	0	3	3	5	0	3	5	7			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr3:50879110G>A	ENST00000266037.9	+	3	149	c.126G>A	c.(124-126)tgG>tgA	p.W42*		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	42	SH3.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	p.W42*(2)|p.W31*(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TTTTAGGTTGGTACAGAGGAG	0.294													7	10					0	0	0.335167	0	0	A	50879110	G	A	50879110	4	1	14	1	0	0	0	0	0	1	0	0	4715	1270	44	2	136	2	DOCK3	3	50879110	Nonsense_Mutation	SNP	G	TCGA-CH-5753-01A-11D-1576-08		50879110	147143320	11	645											
THAP9	79725	broad.mit.edu	37	chr4	83838140	83838141	+	Frame_Shift_Ins	INS	-	-	T																															tccaggtttcaacagcaacaINSttttttcttttcttcaacga																										TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr4:83838140_83838141insT	ENST00000302236.5	+	5	826_827	c.775_776insT	c.(775-777)tttfs	p.F259fs	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	259							DNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				CAACAGCAACATTTTTTCTTTT	0.361													30	437	---	---	---	---						T	83838141	-	T	83838140	7	5	14	1	0	1	1	0	0	0	0	0	15911	217	8	0	793	0	THAP9	4	83838140	Frame_Shift_Ins	INS	-	TCGA-CH-5753-01A-11D-1576-08		83838140	107316136	12	646											
PLK4	0	broad.mit.edu	37	chr4	128814966	128814966	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaattacccaacgagagagaGagcatctttcaacagaatgg	17	7	9	8	1	2	3	1	0	1	3	2	6	2	3	1	1	4	1	1	1	5	2			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr4:128814966G>A	ENST00000270861.5	+	13	2766	c.2492G>A	c.(2491-2493)aGa>aAa	p.R831K	PLK4_ENST00000514379.1_Missense_Mutation_p.R790K|PLK4_ENST00000513090.1_Missense_Mutation_p.R799K|PLK4_ENST00000515069.1_Missense_Mutation_p.R753K|PLK4_ENST00000507249.1_Missense_Mutation_p.R770K	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	831					G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R831K(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						ACGAGAGAGAGAGCATCTTTC	0.418													9	306					0	0	0.307466	0	0	A	128814966	G	A	128814966	3	1	14	1	0	0	0	0	1	0	0	0	12146	942	33	2	2542	2	PLK4	4	128814966	Missense_Mutation	SNP	G	TCGA-CH-5753-01A-11D-1576-08	44976826	128814966	62339310	13	647											
TLL1	7092	broad.mit.edu	37	chr4	166986834	166986834	+	Splice_Site	DEL	G	G	-																															gataaccacatttttttctaGgtttgcaaatatgattatgt																										TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr4:166986834delG	ENST00000061240.2	+	16	2654		c.e16-1		TLL1_ENST00000507499.1_Splice_Site	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1						cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TTTTTTTCTAGGTTTGCAAAT	0.363													7	224	---	---	---	---						-	166986834	G	-	166986834	8	5	14	1	0	1	0	1	0	0	1	0	16005	1014	35	0	2069	0	TLL1	4	166986834	Splice_Site	DEL	G	TCGA-CH-5753-01A-11D-1576-08	38171868	166986834	24167442	14	648											
F11	2160	broad.mit.edu	37	chr4	187197050	187197050	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctgtgcactttctaatctgGgtaattatcgacttcttgat	8	17	7	9	1	3	1	0	1	3	0	4	2	3	1	1	1	1	2	1	1	3	6			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr4:187197050G>T	ENST00000264692.4	+	6	772	c.439_splice	c.e6+1	p.A147_splice	F11_ENST00000403665.2_Splice_Site_p.A199_splice			P03951	FA11_HUMAN	coagulation factor XI	199	Apple 2.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity	p.A199S(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	TTCTAATCTGGGTAATTATCG	0.408													18	40					2.48551e-13	3.11741e-13	0.520397	1	0	T	187197050	G	T	187197050	5	4	14	1	0	0	0	0	0	0	1	0	5365	1246	43	4	613	4	F11	4	187197050	Splice_Site	SNP	G	TCGA-CH-5753-01A-11D-1576-08	20210216	187197050	3957226	15	649											
FBXO4	26272	broad.mit.edu	37	chr5	41927295	41927296	+	Frame_Shift_Del	DEL	TT	TT	-																															ctcttccagatctagaaatcTtaaaaaagcctatatctgag																										TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr5:41927295_41927296delTT	ENST00000296812.2	+	2	426_427	c.370_371delTT	c.(370-372)afs	p.L124fs	FBXO4_ENST00000509134.1_Frame_Shift_Del_p.L124fs|FBXO4_ENST00000281623.3_Frame_Shift_Del_p.L124fs	NM_033484.2	NP_277019.1	Q9UKT5	FBX4_HUMAN	F-box protein 4	124					positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	protein binding|protein homodimerization activity|ubiquitin-protein ligase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				TCTAGAAATCTTAAAAAAGCCT	0.351													18	360	---	---	---	---						-	41927296	TT	-	41927295	7	5	14	1	0	1	0	1	0	0	0	0	5781	1606	56	0	376	0	FBXO4	5	41927295	Frame_Shift_Del	DEL	TT	TCGA-CH-5753-01A-11D-1576-08		41927295	138987965	16	650											
SKIV2L2	23517	broad.mit.edu	37	chr5	54603876	54603876	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggagatgagctgttcagcgTgttcgagggcgactcgacca	8	8	15	10	5	1	2	1	1	0	1	3	6	1	2	1	2	2	3	1	2	0	2			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr5:54603876T>A	ENST00000230640.5	+	1	289	c.35T>A	c.(34-36)gTg>gAg	p.V12E	SKIV2L2_ENST00000504388.1_3'UTR|SKIV2L2_ENST00000545714.1_5'UTR	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	12					maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.V12E(1)		NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				CTGTTCAGCGTGTTCGAGGGC	0.582													23	110					0	0	0.624587	0	0	A	54603876	T	A	54603876	3	1	14	1	0	0	0	0	1	0	0	0	14415	1696	59	5	37	5	SKIV2L2	5	54603876	Missense_Mutation	SNP	T	TCGA-CH-5753-01A-11D-1576-08	12676581	54603876	126311384	17	651											
NR2F1	7025	broad.mit.edu	37	chr5	92923847	92923847	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcgcgcctgctcttcagcGccgtcgagtgggcccgcaac	4	6	13	18	7	2	0	1	0	1	0	3	1	2	0	4	1	3	2	4	1	1	1			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr5:92923847G>A	ENST00000327111.3	+	2	2375	c.688G>A	c.(688-690)Gcc>Acc	p.A230T		NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	230					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	p.A230T(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		GCTCTTCAGCGCCGTCGAGTG	0.637													14	105					0	0	0.435327	0	0	A	92923847	G	A	92923847	3	1	14	1	0	0	0	0	1	0	0	0	10675	1087	38	1	694	1	NR2F1	5	92923847	Missense_Mutation	SNP	G	TCGA-CH-5753-01A-11D-1576-08	38319971	92923847	87991413	18	652											
SRFBP1	153443	broad.mit.edu	37	chr5	121356088	121356088	+	Frame_Shift_Del	DEL	A	A	-																															tagtttcccttgagtcccagAagacacctgctgacccaaaa																										TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr5:121356088delA	ENST00000339397.4	+	6	730	c.658delA	c.(658-660)agfs	p.K220fs		NM_152546.2	NP_689759.2	Q8NEF9	SRFB1_HUMAN	serum response factor binding protein 1	220					regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		TGAGTCCCAGAAGACACCTGC	0.403													58	96	---	---	---	---						-	121356088	A	-	121356088	7	5	14	1	0	1	0	1	0	0	0	0	15200	247	9	0	680	0	SRFBP1	5	121356088	Frame_Shift_Del	DEL	A	TCGA-CH-5753-01A-11D-1576-08	28432241	121356088	59559172	19	653											
FAM135A	57579	broad.mit.edu	37	chr6	71232237	71232237	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacgcagattttctgaggcaTtcttttgttttgagcatcca	8	17	8	8	1	2	3	0	2	2	1	3	3	3	3	1	1	2	4	1	1	1	8			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr6:71232237T>G	ENST00000418814.2	+	13	1665	c.1051T>G	c.(1051-1053)Ttc>Gtc	p.F351V	FAM135A_ENST00000505769.1_Missense_Mutation_p.F351V|FAM135A_ENST00000457062.2_Missense_Mutation_p.F334V|FAM135A_ENST00000370479.3_Missense_Mutation_p.F334V|FAM135A_ENST00000361499.3_Missense_Mutation_p.F351V|FAM135A_ENST00000505868.1_Missense_Mutation_p.F351V	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	351								p.F351V(1)|p.F334V(1)		breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						TTCTGAGGCATTCTTTTGTTT	0.333													72	192					0	0	0.870114	0	0	G	71232237	T	G	71232237	3	3	14	1	0	0	0	0	1	0	0	0	5479	1493	52	5	1171	5	FAM135A	6	71232237	Missense_Mutation	SNP	T	TCGA-CH-5753-01A-11D-1576-08		71232237	99882830	20	654											
TECPR1	25851	broad.mit.edu	37	chr7	97851719	97851719	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctggctgcgaggggtacaCggatccccggtagaaggcgg	7	5	19	10	4	0	1	0	0	0	1	1	3	1	2	2	8	2	4	2	8	3	2			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr7:97851719C>T	ENST00000447648.2	-	22	3342	c.3043G>A	c.(3043-3045)Gtg>Atg	p.V1015M	TECPR1_ENST00000379795.3_Missense_Mutation_p.V1017M|TECPR1_ENST00000479975.1_5'UTR			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	1015						integral to membrane	protein binding	p.V1016M(1)|p.V1015M(1)		central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GAGGGGTACACGGATCCCCGG	0.672													6	10					0	0	0.217242	0	0	T	97851719	C	T	97851719	3	4	14	1	0	0	0	0	1	0	0	0	15802	536	19	1	474	1	TECPR1	7	97851719	Missense_Mutation	SNP	C	TCGA-CH-5753-01A-11D-1576-08		97851719	61286944	21	655											
TMEM130	222865	broad.mit.edu	37	chr7	98460809	98460809	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagagaccgggaattccccGggcacgtggccgaccacacg	10	3	13	15	5	0	1	0	0	0	1	1	4	1	2	5	3	0	1	5	3	1	1			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr7:98460809G>A	ENST00000450876.1	-	2	1363	c.48C>T	c.(46-48)ccC>ccT	p.P16P	TMEM130_ENST00000345589.4_Intron|TMEM130_ENST00000339375.4_Silent_p.P100P|TMEM130_ENST00000416379.2_Silent_p.P100P|TMEM130_ENST00000546258.1_Silent_p.P81P			Q8N3G9	TM130_HUMAN	transmembrane protein 130	100						Golgi membrane|integral to membrane		p.P100P(1)		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)			GGAATTCCCCGGGCACGTGGC	0.637													11	117					0	0	0.361761	0	0	A	98460809	G	A	98460809	2	1	14	1	0	0	0	0	0	0	0	1	16103	1103	39	1		1	TMEM130	7	98460809	Silent	SNP	G	TCGA-CH-5753-01A-11D-1576-08	609090	98460809	60677854	22	656											
ZNF800	168850	broad.mit.edu	37	chr7	127013912	127013912	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtttggaagtaaactgaCgtttacaaagtttacagtaa	14	14	8	5	1	1	1	0	1	1	0	1	2	1	2	0	1	3	5	0	1	7	7			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr7:127013912C>T	ENST00000393313.1	-	5	2069	c.1478G>A	c.(1477-1479)cGt>cAt	p.R493H	ZNF800_ENST00000393312.1_Missense_Mutation_p.R493H|ZNF800_ENST00000265827.3_Missense_Mutation_p.R493H			Q2TB10	ZN800_HUMAN	zinc finger protein 800	493					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R493H(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						AGTAAACTGACGTTTACAAAG	0.383													34	189					0	0	0.769981	0	0	T	127013912	C	T	127013912	3	4	14	1	0	0	0	0	1	0	0	0	18218	536	19	1	524	1	ZNF800	7	127013912	Missense_Mutation	SNP	C	TCGA-CH-5753-01A-11D-1576-08	28553103	127013912	32124751	23	657											
TNKS	8658	broad.mit.edu	37	chr8	9413594	9413594	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaccaccccagcctctcccAcggccagcggcctggccccc	5	3	10	23	2	1	0	0	0	1	0	2	1	1	1	9	4	2	0	9	4	0	0			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr8:9413594A>G	ENST00000310430.6	+	1	171	c.145A>G	c.(145-147)Acg>Gcg	p.T49A	RP11-375N15.2_ENST00000607598.1_RNA|TNKS_ENST00000520408.1_Missense_Mutation_p.T49A|TNKS_ENST00000522110.1_Missense_Mutation_p.T49A	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	49					mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	p.T49A(3)		NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		AGCCTCTCCCACGGCCAGCGG	0.776													4	5					0	0	0.335167	0	0	G	9413594	A	G	9413594	3	3	14	1	0	0	0	0	1	0	0	0	16379	159	6	3	147	3	TNKS	8	9413594	Missense_Mutation	SNP	A	TCGA-CH-5753-01A-11D-1576-08		9413594	136950428	24	658											
FDFT1	2222	broad.mit.edu	37	chr8	11667248	11667248	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgacatgaccatcagtgtGgaaaagaaggtcccgctgtt	12	9	12	8	1	1	3	1	2	0	1	2	5	2	4	2	2	0	2	2	2	3	1			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr8:11667248G>A	ENST00000220584.4	+	3	492	c.270G>A	c.(268-270)gtG>gtA	p.V90V	FDFT1_ENST00000530664.1_Silent_p.V26V|FDFT1_ENST00000443614.2_Silent_p.V90V|FDFT1_ENST00000538689.1_5'UTR|FDFT1_ENST00000525777.1_Silent_p.V5V|FDFT1_ENST00000525900.1_Silent_p.V83V|FDFT1_ENST00000446331.2_Intron|FDFT1_ENST00000528812.1_Silent_p.V26V|FDFT1_ENST00000528643.1_Silent_p.V5V	NM_004462.3	NP_004453.3	P37268	FDFT_HUMAN	farnesyl-diphosphate farnesyltransferase 1	90					cholesterol biosynthetic process|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	farnesyl-diphosphate farnesyltransferase activity|oxidoreductase activity|protein binding|squalene synthase activity	p.V90V(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)	12	all_epithelial(15;0.234)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)		CCATCAGTGTGGAAAAGAAGG	0.463													6	95					0	0	0.217242	0	0	A	11667248	G	A	11667248	2	1	14	1	0	0	0	0	0	0	0	1	5835	1335	47	2		2	FDFT1	8	11667248	Silent	SNP	G	TCGA-CH-5753-01A-11D-1576-08	2253654	11667248	134696774	25	659											
PIWIL2	55124	broad.mit.edu	37	chr8	22163488	22163488	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgagctttcttttatgaccGgaatcccagagaagatgaag	12	11	10	8	1	1	5	0	3	1	2	2	7	2	6	2	1	1	1	2	1	4	3	rs138817329		TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr8:22163488G>A	ENST00000356766.6	+	13	1652	c.1504G>A	c.(1504-1506)Gga>Aga	p.G502R	PIWIL2_ENST00000521356.1_Missense_Mutation_p.G502R|PIWIL2_ENST00000454009.2_Missense_Mutation_p.G502R	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	502					DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding	p.G502R(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		TTTTATGACCGGAATCCCAGA	0.468													33	93					0	0	0.779181	0	0	A	22163488	G	A	22163488	3	1	14	1	0	0	0	0	1	0	0	0	12006	1117	39	1	1550	1	PIWIL2	8	22163488	Missense_Mutation	SNP	G	TCGA-CH-5753-01A-11D-1576-08	10496240	22163488	124200534	26	660											
MCM4	4173	broad.mit.edu	37	chr8	48878815	48878815	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agctgattcccgagatgcagGaggccttcttccagtgccaa	9	9	11	12	1	1	2	0	1	1	1	3	4	3	3	4	2	3	2	4	2	1	3			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr8:48878815G>A	ENST00000262105.2	+	8	1110	c.901G>A	c.(901-903)Gag>Aag	p.E301K	MCM4_ENST00000523944.1_Missense_Mutation_p.E301K	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	301					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	p.E301K(1)		biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				CGAGATGCAGGAGGCCTTCTT	0.617													93	76					0	0	0.870114	0	0	A	48878815	G	A	48878815	3	1	14	1	0	0	0	0	1	0	0	0	9439	1175	41	2	931	2	MCM4	8	48878815	Missense_Mutation	SNP	G	TCGA-CH-5753-01A-11D-1576-08	26715327	48878815	97485207	27	661											
CSMD3	114788	broad.mit.edu	37	chr8	113277665	113277665	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caagttggcattactccactCcatgtgccattaattgtaca	11	13	6	11	0	0	0	0	0	0	0	2	0	2	0	3	1	3	3	3	1	4	5			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr8:113277665C>T	ENST00000297405.5	-	60	9907	c.9663G>A	c.(9661-9663)tgG>tgA	p.W3221*	CSMD3_ENST00000455883.2_Nonsense_Mutation_p.W3052*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.W3151*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.W3181*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3221	Sushi 24.					integral to membrane|plasma membrane		p.W3221*(1)|p.T3214_W3221del(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTACTCCACTCCATGTGCCAT	0.338										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			104	288					0	0	0.870114	0	0	T	113277665	C	T	113277665	4	4	14	1	0	0	0	0	0	1	0	0	3971	856	30	2	1508	2	CSMD3	8	113277665	Nonsense_Mutation	SNP	C	TCGA-CH-5753-01A-11D-1576-08	64398850	113277665	33086357	28	662											
TTLL11	158135	broad.mit.edu	37	chr9	124751554	124751554	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctctggagtcagcgcgatgaCcgtcttaatcaccacggaga	10	8	11	12	4	4	2	2	1	2	1	4	5	4	3	2	2	1	0	2	2	1	1			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr9:124751554C>A	ENST00000321582.5	-	4	1646	c.1459G>T	c.(1459-1461)Gtc>Ttc	p.V487F	TTLL11_ENST00000373776.3_Missense_Mutation_p.V487F|TTLL11_ENST00000474723.1_5'UTR	NM_001139442.1	NP_001132914.1	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	487	TTL.				protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity	p.V487F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						AGCGCGATGACCGTCTTAATC	0.532													25	239					5.61819e-17	7.29379e-17	0.693898	1	0	A	124751554	C	A	124751554	3	1	14	1	0	0	0	0	1	0	0	0	16786	507	18	4	1045	4	TTLL11	9	124751554	Missense_Mutation	SNP	C	TCGA-CH-5753-01A-11D-1576-08		124751554	16461877	29	663											
LCN8	138307	broad.mit.edu	37	chr9	139651558	139651558	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacaagccctccacccgcttCggggccgtcagcaccaggct	8	5	10	18	3	1	0	1	0	0	0	3	0	2	0	5	3	3	3	5	3	2	1			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr9:139651558C>T	ENST00000371688.3	-	2	382	c.87G>A	c.(85-87)ccG>ccA	p.P29P	LCN8_ENST00000482893.1_5'UTR	NM_178469.3	NP_848564.2	Q6JVE9	LCN8_HUMAN	lipocalin 8	52					transport	extracellular region	binding	p.P29P(1)		endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	10	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;5.56e-06)|Epithelial(140;8.32e-05)		CCACCCGCTTCGGGGCCGTCA	0.587													4	49					0	0	0.150653	0	0	T	139651558	C	T	139651558	2	4	14	1	0	0	0	0	0	0	0	1	8725	871	31	1		1	LCN8	9	139651558	Silent	SNP	C	TCGA-CH-5753-01A-11D-1576-08	14900004	139651558	1561873	30	664											
ANKRD30A	91074	broad.mit.edu	37	chr10	37508619	37508619	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcagaaattatttcaactaCaaagcaaaaatatgtggctt	18	12	5	6	0	2	1	2	0	0	1	2	1	2	1	0	1	3	2	0	1	8	5			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr10:37508619C>A	ENST00000374660.1	+	40	4267	c.4168C>A	c.(4168-4170)Caa>Aaa	p.Q1390K	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.Q1271K|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.Q1271K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1327						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.Q1271K(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ATTTCAACTACAAAGCAAAAA	0.338													7	78					8.12818e-05	9.25363e-05	0.248553	1	0	A	37508619	C	A	37508619	3	1	14	1	0	0	0	0	1	0	0	0	654	479	17	4	3945	4	ANKRD30A	10	37508619	Missense_Mutation	SNP	C	TCGA-CH-5753-01A-11D-1576-08		37508619	98026128	31	665											
OR52A1	23538	broad.mit.edu	37	chr11	5172693	5172693	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catttttaccacatgaatgcGaatctgtgtggtctttgcac	9	15	8	9	1	2	1	0	1	2	0	2	2	2	1	1	1	3	1	1	1	3	4			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr11:5172693G>A	ENST00000380367.1	-	2	1324	c.907C>T	c.(907-909)Cgc>Tgc	p.R303C	OR52A1_ENST00000328942.1_Missense_Mutation_p.R303C			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	303					sensory perception of smell	integral to plasma membrane	olfactory receptor activity	p.R303C(1)		breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACATGAATGCGAATCTGTGTG	0.358													32	341					0	0	0.760397	0	0	A	5172693	G	A	5172693	3	1	14	1	0	0	0	0	1	0	0	0	11156	1058	37	1	33	1	OR52A1	11	5172693	Missense_Mutation	SNP	G	TCGA-CH-5753-01A-11D-1576-08		5172693	129833823	32	666											
MICAL2	9645	broad.mit.edu	37	chr11	12280080	12280080	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcaaacaacggaagagacggGcagagttgaagcaacaaaga	19	2	13	7	2	0	4	0	1	0	3	0	6	0	5	0	2	4	4	0	2	6	1			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr11:12280080G>A	ENST00000256194.4	+	25	3496	c.3208G>A	c.(3208-3210)Gca>Aca	p.A1070T	MICAL2_ENST00000527546.1_Missense_Mutation_p.A880T|MICAL2_ENST00000342902.5_Missense_Mutation_p.A1049T|MICAL2_ENST00000537344.1_Missense_Mutation_p.A880T|MICAL2_ENST00000379612.3_Missense_Mutation_p.A844T	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	1070						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	p.A1070T(1)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		GAAGAGACGGGCAGAGTTGAA	0.428													50	81					0	0	0.870114	0	0	A	12280080	G	A	12280080	3	1	14	1	0	0	0	0	1	0	0	0	9618	1203	42	2	3298	2	MICAL2	11	12280080	Missense_Mutation	SNP	G	TCGA-CH-5753-01A-11D-1576-08	7107387	12280080	122726436	33	667											
KCNA4	3739	broad.mit.edu	37	chr11	30034072	30034072	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accagaacccccgctaccttCgacagcagctgtggccgctg	8	6	10	17	3	0	1	0	0	0	1	1	2	0	1	5	1	4	4	5	1	2	2			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr11:30034072C>T	ENST00000328224.6	-	2	1387	c.154G>A	c.(154-156)Gaa>Aaa	p.E52K		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	52						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	p.E52K(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						CCGCTACCTTCGACAGCAGCT	0.677													10	21					0	0	0.859065	0	0	T	30034072	C	T	30034072	3	4	14	1	0	0	0	0	1	0	0	0	8049	893	31	1	1811	1	KCNA4	11	30034072	Missense_Mutation	SNP	C	TCGA-CH-5753-01A-11D-1576-08	17753992	30034072	104972444	34	668											
CHRM4	1132	broad.mit.edu	37	chr11	46407006	46407006	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccacgttggccgcagggcGcatgccagccggcgtggcag	5	4	18	14	5	0	0	0	0	0	0	0	0	0	0	4	5	2	4	4	5	0	1			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr11:46407006G>T	ENST00000433765.2	-	1	1101	c.1102C>A	c.(1102-1104)Cgc>Agc	p.R368S		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	368					cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity	p.R368S(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)	GCCGCAGGGCGCATGCCAGCC	0.627													7	75					3.27435e-08	3.97217e-08	0.457914	1	0	T	46407006	G	T	46407006	3	4	14	1	0	0	0	0	1	0	0	0	3401	1087	38	4	341	4	CHRM4	11	46407006	Missense_Mutation	SNP	G	TCGA-CH-5753-01A-11D-1576-08	16372934	46407006	88599510	35	669											
OR4C16	219428	broad.mit.edu	37	chr11	55339695	55339695	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgtttgttatttttttgcGtctctacttgggaacactgt	6	20	9	6	1	1	0	0	0	1	0	2	1	1	1	0	1	3	2	0	1	3	7			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr11:55339695G>A	ENST00000314634.3	+	1	92	c.92G>A	c.(91-93)cGt>cAt	p.R31H		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R31H(2)|p.R31L(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				ATTTTTTTGCGTCTCTACTTG	0.368													79	204					0	0	0.870114	0	0	A	55339695	G	A	55339695	3	1	14	1	0	0	0	0	1	0	0	0	11097	1145	40	1	94	1	OR4C16	11	55339695	Missense_Mutation	SNP	G	TCGA-CH-5753-01A-11D-1576-08	8932689	55339695	79666821	36	670											
MLEC	9761	broad.mit.edu	37	chr12	121132062	121132062	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agaggtctactttgcacagtCccagcaaaaggtgaggccta	12	8	11	10	0	1	2	0	1	1	1	2	2	2	2	2	3	3	2	2	3	4	3			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr12:121132062C>A	ENST00000228506.3	+	2	832	c.404C>A	c.(403-405)tCc>tAc	p.S135Y	MLEC_ENST00000412616.2_Missense_Mutation_p.S135Y	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN	malectin	135					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding	p.S135Y(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						TTTGCACAGTCCCAGCAAAAG	0.522													37	87					9.8876e-21	1.30658e-20	0.804634	1	0	A	121132062	C	A	121132062	3	1	14	1	0	0	0	0	1	0	0	0	9661	855	30	4	410	4	MLEC	12	121132062	Missense_Mutation	SNP	C	TCGA-CH-5753-01A-11D-1576-08		121132062	12719833	37	671											
WDR66	144406	broad.mit.edu	37	chr12	122396884	122396884	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggctttacagaggggacaGtttacattcttgatgcaatg	10	13	11	7	0	1	2	0	1	1	1	1	3	1	3	0	3	3	3	0	3	3	6			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr12:122396884G>C	ENST00000288912.4	+	13	2871	c.2017G>C	c.(2017-2019)Gtt>Ctt	p.V673L	WDR66_ENST00000397454.2_Missense_Mutation_p.V673L	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	673							calcium ion binding	p.V673L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		AGAGGGGACAGTTTACATTCT	0.423													83	140					0	0	0.870114	0	0	C	122396884	G	C	122396884	3	2	14	1	0	0	0	0	1	0	0	0	17377	1029	36	4	2063	4	WDR66	12	122396884	Missense_Mutation	SNP	G	TCGA-CH-5753-01A-11D-1576-08	1264822	122396884	11455011	38	672											
NYNRIN	57523	broad.mit.edu	37	chr14	24878180	24878180	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcaatttccccttctggCagagacctctgggccccatt	6	12	8	15	0	3	1	1	0	2	1	4	2	4	1	5	2	0	2	5	2	1	4			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr14:24878180C>A	ENST00000382554.3	+	4	1498	c.1180C>A	c.(1180-1182)Cag>Aag	p.Q394K		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	394					DNA integration	integral to membrane	DNA binding	p.Q394K(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CCCCTTCTGGCAGAGACCTCT	0.567													11	34					5.50884e-06	6.4707e-06	0.411799	1	0	A	24878180	C	A	24878180	3	1	14	1	0	0	0	0	1	0	0	0	10844	711	25	4	1190	4	NYNRIN	14	24878180	Missense_Mutation	SNP	C	TCGA-CH-5753-01A-11D-1576-08		24878180	82471360	39	673											
NRXN3	9369	broad.mit.edu	37	chr14	80271470	80271470	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagccaacatcagatgatCttgtttcatctgctgaatgt	12	13	7	9	0	4	3	2	2	2	1	4	3	4	3	1	0	4	2	1	0	3	2			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr14:80271470C>A	ENST00000281127.7	+	5	1804	c.925C>A	c.(925-927)Ctt>Att	p.L309I	NRXN3_ENST00000428277.2_Missense_Mutation_p.L339I|NRXN3_ENST00000556003.1_Intron|NRXN3_ENST00000554719.1_Missense_Mutation_p.L941I|NRXN3_ENST00000335750.5_Missense_Mutation_p.L941I|NRXN3_ENST00000557594.1_Missense_Mutation_p.L309I	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	309					angiogenesis|cell adhesion	integral to membrane		p.L941I(1)|p.L339I(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		ATCAGATGATCTTGTTTCATC	0.383													9	228					4.68919e-08	5.59677e-08	0.361761	1	0	A	80271470	C	A	80271470	3	1	14	1	0	0	0	0	1	0	0	0	10715	913	32	4	3220	4	NRXN3	14	80271470	Missense_Mutation	SNP	C	TCGA-CH-5753-01A-11D-1576-08	55393290	80271470	27078070	40	674											
RYR3	6263	broad.mit.edu	37	chr15	33835896	33835896	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgacgataccatctacagaCcagaatgattcccagcacag	14	8	7	12	1	1	4	0	2	1	2	2	5	2	4	3	0	3	1	3	0	3	4			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr15:33835896C>T	ENST00000389232.4	+	8	790	c.720C>T	c.(718-720)gaC>gaT	p.D240D	RYR3_ENST00000415757.3_Silent_p.D240D	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	240	MIR 3.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.D240D(2)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CATCTACAGACCAGAATGATT	0.398													46	262					0	0	0.870114	0	0	T	33835896	C	T	33835896	2	4	14	1	0	0	0	0	0	0	0	1	13822	506	18	2		2	RYR3	15	33835896	Silent	SNP	C	TCGA-CH-5753-01A-11D-1576-08		33835896	68695496	41	675											
TGM7	116179	broad.mit.edu	37	chr15	43577105	43577105	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatccacgttgtgcgcggaaCggaaattggaaacaacacgg	13	7	12	9	5	0	0	0	0	0	0	1	3	1	3	1	4	4	1	1	4	5	3			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr15:43577105C>T	ENST00000452443.2	-	7	915	c.911G>A	c.(910-912)cGt>cAt	p.R304H		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	304					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.R304H(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	GTGCGCGGAACGGAAATTGGA	0.423													41	205					0	0	0.827153	0	0	T	43577105	C	T	43577105	3	4	14	1	0	0	0	0	1	0	0	0	15895	536	19	1	1249	1	TGM7	15	43577105	Missense_Mutation	SNP	C	TCGA-CH-5753-01A-11D-1576-08	9741209	43577105	58954287	42	676											
STRC	161497	broad.mit.edu	37	chr15	43896963	43896963	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatctgtagggggatctgtcGtgtgctctctgtccccagga	5	12	14	10	1	3	0	0	0	3	0	6	3	4	2	2	3	1	2	2	3	1	1			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr15:43896963G>A	ENST00000450892.2	-	20	4089	c.4012C>T	c.(4012-4014)Cga>Tga	p.R1338*	STRC_ENST00000541030.1_Nonsense_Mutation_p.R565*	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	1338					sensory perception of sound	cell surface		p.R1338*(1)		skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		GGGATCTGTCGTGTGCTCTCT	0.552													44	50					0	0	0.870114	0	0	A	43896963	G	A	43896963	4	1	14	1	0	0	0	0	0	1	0	0	15384	1153	40	1	1355	1	STRC	15	43896963	Nonsense_Mutation	SNP	G	TCGA-CH-5753-01A-11D-1576-08	319858	43896963	58634429	43	677											
CEP152	22995	broad.mit.edu	37	chr15	49036526	49036526	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcaagcattttcaatggccCctgctgacaatgacctaaaa	13	9	8	11	0	1	2	1	2	0	0	1	2	1	2	3	2	2	3	3	2	5	3			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr15:49036526C>T	ENST00000380950.2	-	24	3933	c.3746G>A	c.(3745-3747)gGg>gAg	p.G1249E	CEP152_ENST00000325747.5_Missense_Mutation_p.G1156E|CEP152_ENST00000399334.3_Missense_Mutation_p.G1193E	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1193					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	p.G1193E(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TTCAATGGCCCCTGCTGACAA	0.338													47	58					0	0	0.870114	0	0	T	49036526	C	T	49036526	3	4	14	1	0	0	0	0	1	0	0	0	3270	623	22	2	1402	2	CEP152	15	49036526	Missense_Mutation	SNP	C	TCGA-CH-5753-01A-11D-1576-08	5139563	49036526	53494866	44	678											
VPS13C	54832	broad.mit.edu	37	chr15	62266506	62266506	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctgtctctctggagactggGctgatgatttctgtggcaaa	7	13	12	9	0	3	3	0	2	3	1	4	4	3	3	1	3	0	2	1	3	1	1			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr15:62266506G>A	ENST00000261517.5	-	25	2592	c.2519C>T	c.(2518-2520)gCc>gTc	p.A840V	VPS13C_ENST00000249837.3_Missense_Mutation_p.A797V|VPS13C_ENST00000395896.4_Missense_Mutation_p.A840V|VPS13C_ENST00000395898.3_Missense_Mutation_p.A797V	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	840					protein localization			p.A840V(1)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TGGAGACTGGGCTGATGATTT	0.373													82	140					0	0	0.870114	0	0	A	62266506	G	A	62266506	3	1	14	1	0	0	0	0	1	0	0	0	17251	1203	42	2	9014	2	VPS13C	15	62266506	Missense_Mutation	SNP	G	TCGA-CH-5753-01A-11D-1576-08	13229980	62266506	40264886	45	679											
ACAN	176	broad.mit.edu	37	chr15	89386657	89386657	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccaatgagtgccggcggctgGgtgcccggctggccaccacg	5	5	16	15	4	0	1	0	1	0	0	0	1	0	1	5	5	2	2	5	5	1	0			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr15:89386657G>A	ENST00000439576.2	+	6	1203	c.829G>A	c.(829-831)Ggt>Agt	p.G277S	ACAN_ENST00000561243.1_Missense_Mutation_p.G277S|ACAN_ENST00000559004.1_Missense_Mutation_p.G277S|ACAN_ENST00000352105.7_Missense_Mutation_p.G277S|ACAN_ENST00000558207.1_Missense_Mutation_p.G277S	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	277					cell adhesion		hyaluronic acid binding|sugar binding	p.G277S(2)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CCGGCGGCTGGGTGCCCGGCT	0.647													6	13					0	0	0.335167	0	0	A	89386657	G	A	89386657	3	1	14	1	0	0	0	0	1	0	0	0	117	1232	43	2	847	2	ACAN	15	89386657	Missense_Mutation	SNP	G	TCGA-CH-5753-01A-11D-1576-08	27120151	89386657	13144735	46	680											
MSLN	10232	broad.mit.edu	37	chr16	818698	818698	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctggacctgttctcaccGtcctggcactgctcctagcc	5	10	9	17	1	1	0	1	0	1	0	4	2	3	1	6	2	2	3	6	2	1	2	rs74953641		TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr16:818698G>A	ENST00000566549.1	+	17	2251	c.1834G>A	c.(1834-1836)Gtc>Atc	p.V612I	MSLN_ENST00000545450.2_Missense_Mutation_p.V612I|MSLN_ENST00000563941.1_Missense_Mutation_p.V612I|MSLN_ENST00000382862.3_Missense_Mutation_p.V620I			Q13421	MSLN_HUMAN	mesothelin	620					cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane		p.V620I(2)		breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				TGTTCTCACCGTCCTGGCACT	0.701													5	96					0	0	0.184627	0	0	A	818698	G	A	818698	3	1	14	1	0	0	0	0	1	0	0	0	9929	1145	40	1	1920	1	MSLN	16	818698	Missense_Mutation	SNP	G	TCGA-CH-5753-01A-11D-1576-08		818698	89536055	47	681											
TCEB2	6923	broad.mit.edu	37	chr16	2827129	2827129	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggatcatgaggaacacgtcCtgggggcggcgggccggcgt	6	5	19	11	6	1	1	1	1	0	0	2	3	2	3	2	7	1	0	2	7	1	0			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr16:2827129C>T	ENST00000409906.4	-	2	61		c.e2-1		TCEB2_ENST00000409477.1_5'UTR|TCEB2_ENST00000262306.7_Splice_Site|TCEB2_ENST00000572954.1_Splice_Site	NM_007108.3	NP_009039.1	Q15370	ELOB_HUMAN	transcription elongation factor B (SIII), polypeptide 2 (18kDa, elongin B)						positive regulation of viral transcription|protein complex assembly|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|nucleoplasm	protein binding	p.?(1)		endometrium(2)|prostate(1)	3						GGAACACGTCCTGGGGGCGGC	0.756													7	10					0	0	0.335167	0	0	T	2827129	C	T	2827129	5	4	14	1	0	0	0	0	0	0	1	0	15740	695	24	2	502	2	TCEB2	16	2827129	Splice_Site	SNP	C	TCGA-CH-5753-01A-11D-1576-08	2008431	2827129	87527624	48	682											
ZNF213	7760	broad.mit.edu	37	chr16	3190970	3190970	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggggctcggacctggcgcgGcaccagcgcacgcacacggg	6	3	17	15	6	0	0	0	0	0	0	1	1	0	1	2	6	1	4	2	6	0	0			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr16:3190970G>A	ENST00000396878.3	+	6	1477	c.1002G>A	c.(1000-1002)cgG>cgA	p.R334R	ZNF213_ENST00000416391.2_Silent_p.R176R|ZNF213_ENST00000576416.1_Silent_p.R334R|ZNF213_ENST00000574902.1_Silent_p.R334R	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN	zinc finger protein 213	334					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R334R(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						ACCTGGCGCGGCACCAGCGCA	0.697													3	20					0	0	0.115264	0	0	A	3190970	G	A	3190970	2	1	14	1	0	0	0	0	0	0	0	1	17827	1190	42	2		2	ZNF213	16	3190970	Silent	SNP	G	TCGA-CH-5753-01A-11D-1576-08	363841	3190970	87163783	49	683											
ABCC12	94160	broad.mit.edu	37	chr16	48121966	48121966	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactggctggctccaccagaCgaaacaaagccattcctaac	13	6	7	15	1	0	1	0	0	0	1	2	2	2	1	4	2	3	2	4	2	3	2			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr16:48121966C>T	ENST00000311303.3	-	25	3851	c.3506G>A	c.(3505-3507)cGt>cAt	p.R1169H	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1169	ABC transporter 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.R1169H(1)		NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CTCCACCAGACGAAACAAAGC	0.433													27	32					0	0	0.706142	0	0	T	48121966	C	T	48121966	3	4	14	1	0	0	0	0	1	0	0	0	52	536	19	1	593	1	ABCC12	16	48121966	Missense_Mutation	SNP	C	TCGA-CH-5753-01A-11D-1576-08	44930996	48121966	42232787	50	684											
IGF2BP1	10642	broad.mit.edu	37	chr17	47121400	47121400	+	Frame_Shift_Del	DEL	G	G	-																															ggcgccatcatcggcaagaaGgggcagcacatcaaacagct																										TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr17:47121400delG	ENST00000290341.3	+	11	1606	c.1272delG	c.(1270-1272)aafs	p.K424fs	IGF2BP1_ENST00000431824.2_Frame_Shift_Del_p.K285fs	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	424	KH 3.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TCGGCAAGAAGGGGCAGCACA	0.597													55	153	---	---	---	---						-	47121400	G	-	47121400	7	5	14	1	0	1	0	1	0	0	0	0	7617	991	35	0	1314	0	IGF2BP1	17	47121400	Frame_Shift_Del	DEL	G	TCGA-CH-5753-01A-11D-1576-08		47121400	34073810	51	685											
TLK2	11011	broad.mit.edu	37	chr17	60654069	60654069	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acttttaccactgtttttcaGgttaacgttagcagaatacc	11	15	6	9	1	1	1	1	0	0	1	1	1	1	1	2	1	4	4	2	1	5	7			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr17:60654069G>A	ENST00000582809.1	+	14	1377		c.e14-1		TLK2_ENST00000343388.7_Splice_Site|TLK2_ENST00000326270.9_Splice_Site|TLK2_ENST00000346027.5_Splice_Site|TLK2_ENST00000542523.1_Splice_Site			Q86UE8	TLK2_HUMAN	tousled-like kinase 2						cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.?(3)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						CTGTTTTTCAGGTTAACGTTA	0.313													9	271					0	0	0.38729	0	0	A	60654069	G	A	60654069	5	1	14	1	0	0	0	0	0	0	1	0	16004	1014	35	2	1167	2	TLK2	17	60654069	Splice_Site	SNP	G	TCGA-CH-5753-01A-11D-1576-08	13532669	60654069	20541141	52	686											
NDC80	10403	broad.mit.edu	37	chr18	2610828	2610828	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ataacttgcaacgtctgttaGagatggttgctacacatgtt	11	14	9	7	1	1	1	0	0	1	1	1	2	1	1	0	1	5	5	0	1	4	6			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr18:2610828G>A	ENST00000261597.4	+	16	1941	c.1759G>A	c.(1759-1761)Gag>Aag	p.E587K		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	587	Interaction with NEK2 and ZWINT.|Interaction with the C-terminus of CDCA1 and the SPBC24-SPBC25 subcomplex.				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex	protein binding	p.E587K(1)		NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						ACGTCTGTTAGAGATGGTTGC	0.373													14	255					0	0	0.435327	0	0	A	2610828	G	A	2610828	3	1	14	1	0	0	0	0	1	0	0	0	10289	943	33	2	1817	2	NDC80	18	2610828	Missense_Mutation	SNP	G	TCGA-CH-5753-01A-11D-1576-08		2610828	75466420	53	687											
LMAN1	3998	broad.mit.edu	37	chr18	57006162	57006162	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcttagctctcgatctcCtacactctcaaatatttcct	8	17	3	13	1	4	0	1	0	4	0	8	1	5	0	2	0	2	1	2	0	4	5			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr18:57006162C>T	ENST00000251047.5	-	9	1696	c.979G>A	c.(979-981)Gga>Aga	p.G327R		NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1	327					blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding	p.G327R(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	TCTCGATCTCCTACACTCTCA	0.368													41	178					0	0	0.834066	0	0	T	57006162	C	T	57006162	3	4	14	1	0	0	0	0	1	0	0	0	8877	690	24	2	573	2	LMAN1	18	57006162	Missense_Mutation	SNP	C	TCGA-CH-5753-01A-11D-1576-08	54395334	57006162	21071086	54	688											
ZNF99	7652	broad.mit.edu	37	chr19	22939861	22939861	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacgatttctccctagtatGaattagcttatgtttcttaa	10	18	6	7	1	2	1	0	1	2	0	3	2	2	1	1	0	2	4	1	0	7	8			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr19:22939861G>T	ENST00000397104.3	-	6	2469	c.2470C>A	c.(2470-2472)Cat>Aat	p.H824N						zinc finger protein 99									p.H824N(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TCCCTAGTATGAATTAGCTTA	0.378													94	132					1.43847e-43	1.93539e-43	0.870114	1	0	T	22939861	G	T	22939861	3	4	14	1	0	0	0	0	1	0	0	0	18246	1290	45	4	650	4	ZNF99	19	22939861	Missense_Mutation	SNP	G	TCGA-CH-5753-01A-11D-1576-08		22939861	36189122	55	689											
ATRN	8455	broad.mit.edu	37	chr20	3557613	3557614	+	In_Frame_Ins	INS	-	-	CCC																															accagaactgccagtgggagINSccccggaatcaggagtgcat																										TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr20:3557613_3557614insCCC	ENST00000262919.5	+	14	2390_2391	c.2322_2323insCCC	c.(2320-2325)gacccg>gaCCCcccg	p.775_776insP	ATRN_ENST00000446916.2_In_Frame_Ins_p.775_776insP	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	775	PSI 2.				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						GCCAGTGGGAGCCCCGGAATCA	0.55													14	226	---	---	---	---						CCC	3557614	-	CCC	3557613	7	5	14	1	0	1	1	0	0	0	0	0	1204	962	34	0	2376	0	ATRN	20	3557613	In_Frame_Ins	INS	-	TCGA-CH-5753-01A-11D-1576-08		3557613	59467907	56	690											
SMARCB1	6598	broad.mit.edu	37	chr22	24145587	24145587	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgggcagaagctgcgagaCgccttcacctggaacatgaa	12	6	13	10	2	1	3	1	1	0	2	1	6	1	4	2	2	3	2	2	2	3	1			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chr22:24145587C>A	ENST00000344921.6	+	5	840	c.633C>A	c.(631-633)gaC>gaA	p.D211E	SMARCB1_ENST00000407422.3_Missense_Mutation_p.D193E|SMARCB1_ENST00000263121.7_Missense_Mutation_p.D202E|SMARCB1_ENST00000407082.3_Missense_Mutation_p.D156E			Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	202	2 X approximate tandem repeats.|HIV-1 integrase-binding.|MYC-binding.				cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	p.?(6)|p.D211E(1)|p.D202E(1)|p.A203fs*13(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				AGCTGCGAGACGCCTTCACCT	0.602			"D, N, F, S"		malignant rhabdoid	malignant rhabdoid							3	56					0.115264	0.120134	0.115264	1	0	A	24145587	C	A	24145587	3	1	14	1	0	0	0	0	1	0	0	0	14828	535	19	4	624	4	SMARCB1	22	24145587	Missense_Mutation	SNP	C	TCGA-CH-5753-01A-11D-1576-08		24145587	27158979	57	691											
GABRE	2564	broad.mit.edu	37	chrX	151138738	151138738	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcttctggcagtttgccaaCtctgctcccagtctcagtct	5	13	9	14	0	4	0	1	0	4	0	6	0	5	0	2	2	3	4	2	2	1	2			TCGA-CH-5753-01A-11D-1576-08	TCGA-CH-5753-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05a8fbba-61ac-42a4-b375-87f3a671446b	c1987c4d-84f8-4464-93ad-7e53fd4a6a11	g.chrX:151138738C>T	ENST00000370325.1	-	2	246	c.193G>A	c.(193-195)Gtt>Att	p.V65I	GABRE_ENST00000393914.3_5'UTR|GABRE_ENST00000370328.3_Missense_Mutation_p.V65I			P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	65					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.V65I(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					AGTTTGCCAACTCTGCTCCCA	0.532													10	220					0	0	0.411799	0	0	T	151138738	C	T	151138738	3	4	14	1	0	0	0	0	1	0	0	0	6205	565	20	2	1359	2	GABRE	23	151138738	Missense_Mutation	SNP	C	TCGA-CH-5753-01A-11D-1576-08		151138738	4131822	58	692											
PLCH2	9651	broad.mit.edu	37	chr1	2419086	2419086	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccattgtgcaccatggctaCactctgacttccaagatcct	9	11	6	15	0	1	2	0	1	1	1	3	2	3	2	4	1	2	2	4	1	2	3			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr1:2419086C>A	ENST00000449969.1	+	8	1244	c.1083C>A	c.(1081-1083)taC>taA	p.Y361*	PLCH2_ENST00000378488.3_Nonsense_Mutation_p.Y388*|PLCH2_ENST00000378486.3_Nonsense_Mutation_p.Y388*|PLCH2_ENST00000378483.2_Intron|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000419816.2_Nonsense_Mutation_p.Y388*			O75038	PLCH2_HUMAN	phospholipase C, eta 2	388	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.Y388*(1)|p.Y235*(1)		central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		ACCATGGCTACACTCTGACTT	0.592													5	64					1.024e-07	1.06463e-07	1	1	0	A	2419086	C	A	2419086	4	1	15	1	0	0	0	0	0	1	0	0	12086	489	17	4	1194	4	PLCH2	1	2419086	Nonsense_Mutation	SNP	C	TCGA-CH-5754-01A-11D-1576-08		2419086	246831535	1	693											
UBE4B	10277	broad.mit.edu	37	chr1	10231330	10231330	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagctgttggaccaactgacGgatatttacttacagctgga	12	11	10	8	1	0	1	0	1	0	0	0	4	0	4	1	3	5	3	1	3	5	5	rs142901446		TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr1:10231330G>A	ENST00000377157.3	+	24	3794	c.2733G>A	c.(2731-2733)acG>acA	p.T911T	UBE4B_ENST00000343090.6_Silent_p.T1156T|UBE4B_ENST00000253251.8_Silent_p.T1027T	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN	ubiquitination factor E4B	1156					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding	p.T1027T(1)|p.T1156T(1)		NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		ACCAACTGACGGATATTTACT	0.478													81	232					0	0	1	0	0	A	10231330	G	A	10231330	2	1	15	1	0	0	0	0	0	0	0	1	16944	1103	39	1		1	UBE4B	1	10231330	Silent	SNP	G	TCGA-CH-5754-01A-11D-1576-08	7812244	10231330	239019291	2	694											
VPS13D	55187	broad.mit.edu	37	chr1	12337950	12337950	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attaaactgtattctttgaaTtgcacccagttggcaggtag	11	14	9	7	0	1	1	0	1	1	0	1	1	1	1	1	2	2	5	1	2	5	7			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr1:12337950T>G	ENST00000358136.3	+	19	4435	c.4305T>G	c.(4303-4305)aaT>aaG	p.N1435K	VPS13D_ENST00000356315.4_Missense_Mutation_p.N1435K	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	1435					protein localization			p.N1435K(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ATTCTTTGAATTGCACCCAGT	0.498													88	179					0	0	1	0	0	G	12337950	T	G	12337950	3	3	15	1	0	0	0	0	1	0	0	0	17252	1490	52	5	4375	5	VPS13D	1	12337950	Missense_Mutation	SNP	T	TCGA-CH-5754-01A-11D-1576-08	2106620	12337950	236912671	3	695											
EPHB2	2048	broad.mit.edu	37	chr1	23110993	23110993	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctacggaccaagtttatcCggcgccgtggcgcccaccgc	6	6	13	16	6	0	0	0	0	0	0	1	1	1	1	5	4	1	2	5	4	3	3	rs139122679		TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr1:23110993C>T	ENST00000400191.3	+	3	253	c.235C>T	c.(235-237)Cgg>Tgg	p.R79W	EPHB2_ENST00000374627.1_Missense_Mutation_p.R73W|EPHB2_ENST00000374630.3_Missense_Mutation_p.R79W|EPHB2_ENST00000544305.1_Missense_Mutation_p.R79W|EPHB2_ENST00000374632.3_Missense_Mutation_p.R79W	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	79					axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	p.R79W(1)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CAAGTTTATCCGGCGCCGTGG	0.577													20	33					0	0	1	0	0	T	23110993	C	T	23110993	3	4	15	1	0	0	0	0	1	0	0	0	5203	643	23	1	245	1	EPHB2	1	23110993	Missense_Mutation	SNP	C	TCGA-CH-5754-01A-11D-1576-08	10773043	23110993	226139628	4	696											
EDN2	1907	broad.mit.edu	37	chr1	41948239	41948239	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgtcttggcgggtttcccAggccgtaaggagctgtctgt	4	11	16	10	3	2	0	0	0	2	0	3	1	3	1	2	5	1	3	2	5	1	3			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr1:41948239A>T	ENST00000372587.4	-	3	311	c.242T>A	c.(241-243)cTg>cAg	p.L81Q	EDN2_ENST00000490783.1_5'UTR	NM_001956.3	NP_001947.1	P20800	EDN2_HUMAN	endothelin 2	81					artery smooth muscle contraction|calcium-mediated signaling|cytokine-mediated signaling pathway|elevation of cytosolic calcium ion concentration|hormonal regulation of the force of heart contraction|inositol phosphate-mediated signaling|macrophage activation|macrophage chemotaxis|neutrophil chemotaxis|positive regulation of cell proliferation|positive regulation of heart rate|positive regulation of leukocyte chemotaxis|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of the force of heart contraction by chemical signal|prostaglandin biosynthetic process|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space	endothelin B receptor binding|hormone activity	p.L81Q(1)		endometrium(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CGGGTTTCCCAGGCCGTAAGG	0.617													7	20					0	0	1	0	0	T	41948239	A	T	41948239	3	4	15	1	0	0	0	0	1	0	0	0	4943	188	7	5	306	5	EDN2	1	41948239	Missense_Mutation	SNP	A	TCGA-CH-5754-01A-11D-1576-08	18837246	41948239	207302382	5	697											
TGFBR3	7049	broad.mit.edu	37	chr1	92262994	92262994	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggatgggaggcactgacAggtgacagttcacacagtgc	12	6	14	9	0	1	2	1	2	0	0	1	4	1	4	0	4	1	2	0	4	0	1			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr1:92262994A>T	ENST00000212355.4	-	3	561	c.96T>A	c.(94-96)ccT>ccA	p.P32P	TGFBR3_ENST00000525962.1_Silent_p.P32P|TGFBR3_ENST00000370399.2_Silent_p.P32P	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	32					BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding	p.P32P(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		AGGCACTGACAGGTGACAGTT	0.552													42	96					0	0	1	0	0	T	92262994	A	T	92262994	2	4	15	1	0	0	0	0	0	0	0	1	15883	175	7	5		5	TGFBR3	1	92262994	Silent	SNP	A	TCGA-CH-5754-01A-11D-1576-08	50314755	92262994	156987627	6	698											
VAV3	10451	broad.mit.edu	37	chr1	108417620	108417620	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggccgtgagaaatgtccttAtgttcttcaaacagagaaac	14	10	9	8	1	2	2	1	1	1	2	3	4	3	2	2	1	2	1	2	1	4	3			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr1:108417620A>C	ENST00000370056.4	-	2	498	c.224T>G	c.(223-225)aTa>aGa	p.I75R	VAV3_ENST00000371846.4_Missense_Mutation_p.I10R|VAV3_ENST00000527011.1_Missense_Mutation_p.I75R	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	75	CH.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	p.I75R(2)		NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		AAATGTCCTTATGTTCTTCAA	0.398													48	104					0	0	1	0	0	C	108417620	A	C	108417620	3	2	15	1	0	0	0	0	1	0	0	0	17193	449	16	5	2448	5	VAV3	1	108417620	Missense_Mutation	SNP	A	TCGA-CH-5754-01A-11D-1576-08	16154626	108417620	140833001	7	699											
CACYBP	27101	broad.mit.edu	37	chr1	174979201	174979201	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagagaagcaagccaaaggaGacacggaattttgagacttt	16	7	12	6	1	0	3	0	1	0	3	0	8	0	4	1	2	2	1	1	2	4	3			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr1:174979201G>A	ENST00000367681.2	+	6	1184	c.544G>A	c.(544-546)Gac>Aac	p.D182N	CACYBP_ENST00000405362.1_Missense_Mutation_p.D182N|CACYBP_ENST00000367679.2_Missense_Mutation_p.D225N	NM_001007214.1	NP_001007215.1	Q9HB71	CYBP_HUMAN	calcyclin binding protein	225	Interaction with S100A6 (By similarity).|Interaction with SKP1.|SGS.					beta-catenin destruction complex	protein homodimerization activity	p.D225N(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	11						AGCCAAAGGAGACACGGAATT	0.378													30	77					0	0	1	0	0	A	174979201	G	A	174979201	3	1	15	1	0	0	0	0	1	0	0	0	2582	942	33	2	695	2	CACYBP	1	174979201	Missense_Mutation	SNP	G	TCGA-CH-5754-01A-11D-1576-08	66561581	174979201	74271420	8	700											
TDRD5	163589	broad.mit.edu	37	chr1	179638343	179638343	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagcaactagacataaaTggttcttcagattcttccac	12	12	6	11	0	3	2	1	0	2	2	4	2	4	2	1	1	3	3	1	1	4	6			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr1:179638343T>C	ENST00000444136.1	+	17	2914	c.2664T>C	c.(2662-2664)aaT>aaC	p.N888N	TDRD5_ENST00000294848.8_Silent_p.N834N|TDRD5_ENST00000367614.1_Silent_p.N834N	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	860					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	p.N834N(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TAGACATAAATGGTTCTTCAG	0.403													69	148					0	0	1	0	0	C	179638343	T	C	179638343	2	2	15	1	0	0	0	0	0	0	0	1	15792	1461	51	3		3	TDRD5	1	179638343	Silent	SNP	T	TCGA-CH-5754-01A-11D-1576-08	4659142	179638343	69612278	9	701											
F13B	2165	broad.mit.edu	37	chr1	197030932	197030932	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accatgttctttcctacaggTtggttgagaagaccatccat	10	13	8	10	0	1	2	0	1	1	2	3	3	3	2	4	2	1	3	4	2	2	5			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr1:197030932T>C	ENST00000367412.1	-	3	476	c.433A>G	c.(433-435)Acc>Gcc	p.T145A		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	145	Sushi 2.				blood coagulation	extracellular region		p.T145A(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TTCCTACAGGTTGGTTGAGAA	0.373													36	79					0	0	1	0	0	C	197030932	T	C	197030932	3	2	15	1	0	0	0	0	1	0	0	0	5369	1725	60	3	1592	3	F13B	1	197030932	Missense_Mutation	SNP	T	TCGA-CH-5754-01A-11D-1576-08	17392589	197030932	52219689	10	702											
GPR37L1	9283	broad.mit.edu	37	chr1	202092294	202092294	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgaggagtgggcggagtaccCccggcccattcaccctgctg	6	7	14	14	2	1	1	1	1	0	0	1	3	1	3	4	4	2	2	4	4	1	2			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr1:202092294C>T	ENST00000367282.4	+	1	309	c.203C>T	c.(202-204)cCc>cTc	p.P68L		NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN	G protein-coupled receptor 37 like 1	68						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	p.P68L(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						GCGGAGTACCCCCGGCCCATT	0.672													6	45					0	0	1	0	0	T	202092294	C	T	202092294	3	4	15	1	0	0	0	0	1	0	0	0	6732	623	22	2	205	2	GPR37L1	1	202092294	Missense_Mutation	SNP	C	TCGA-CH-5754-01A-11D-1576-08	5061362	202092294	47158327	11	703											
GPATCH2	55105	broad.mit.edu	37	chr1	217604605	217604605	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttggctcagagatccccttgCcatctcgtccaaggcctgac	7	10	9	15	1	2	2	1	1	1	1	5	3	4	2	5	2	1	1	5	2	1	2			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr1:217604605C>T	ENST00000366935.3	-	10	1579	c.1469G>A	c.(1468-1470)gGc>gAc	p.G490D		NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	490	G-patch.					intracellular	nucleic acid binding	p.G490D(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		GATCCCCTTGCCATCTCGTCC	0.478													6	377					0	0	1	0	0	T	217604605	C	T	217604605	3	4	15	1	0	0	0	0	1	0	0	0	6631	739	26	2	121	2	GPATCH2	1	217604605	Missense_Mutation	SNP	C	TCGA-CH-5754-01A-11D-1576-08	15512311	217604605	31646016	12	704											
NLRP3	114548	broad.mit.edu	37	chr1	247587856	247587856	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctcggcatgtggagatcCtgggtttctccgaggccaaa	8	10	12	11	2	1	1	0	0	1	1	5	3	3	1	4	4	0	2	4	4	1	1			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr1:247587856C>A	ENST00000366497.2	+	4	1891	c.1111C>A	c.(1111-1113)Ctg>Atg	p.L371M	NLRP3_ENST00000336119.3_Missense_Mutation_p.L371M|NLRP3_ENST00000348069.2_Missense_Mutation_p.L371M|NLRP3_ENST00000391828.3_Missense_Mutation_p.L371M|NLRP3_ENST00000366496.2_Missense_Mutation_p.L371M|NLRP3_ENST00000391827.2_Missense_Mutation_p.L371M|NLRP3_ENST00000474792.1_3'UTR	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	371	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.L371M(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TGTGGAGATCCTGGGTTTCTC	0.547													58	129					1.4709e-25	1.61923e-25	1	1	0	A	247587856	C	A	247587856	3	1	15	1	0	0	0	0	1	0	0	0	10525	680	24	4	1121	4	NLRP3	1	247587856	Missense_Mutation	SNP	C	TCGA-CH-5754-01A-11D-1576-08	29983251	247587856	1662765	13	705											
SNRNP200	23020	broad.mit.edu	37	chr2	96970455	96970455	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactcacttggctcttcttTcctcctgcatctgcggtttg	3	16	8	14	1	4	0	1	0	3	0	6	0	6	0	2	2	2	4	2	2	0	4			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr2:96970455T>G	ENST00000323853.5	-	2	274	c.197A>C	c.(196-198)gAa>gCa	p.E66A	SNRNP200_ENST00000349783.5_Missense_Mutation_p.E66A	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	66						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.E66A(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						GGCTCTTCTTTCCTCCTGCAT	0.517													41	105					0	0	1	0	0	G	96970455	T	G	96970455	3	3	15	1	0	0	0	0	1	0	0	0	14906	1783	62	5	6389	5	SNRNP200	2	96970455	Missense_Mutation	SNP	T	TCGA-CH-5754-01A-11D-1576-08		96970455	146228918	14	706											
SLC5A7	60482	broad.mit.edu	37	chr2	108614336	108614336	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgatgtggatatgcacatttCtgtcatcatctctgcactca	9	14	7	11	1	5	0	3	0	2	0	6	2	5	1	0	1	2	2	0	1	1	2			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr2:108614336C>G	ENST00000264047.2	+	5	767	c.491C>G	c.(490-492)tCt>tGt	p.S164C	SLC5A7_ENST00000409059.1_Missense_Mutation_p.S164C|SLC5A7_ENST00000540517.1_Missense_Mutation_p.S59C	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	164					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	p.S164C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	ATGCACATTTCTGTCATCATC	0.468													174	372					0	0	1	0	0	G	108614336	C	G	108614336	3	3	15	1	0	0	0	0	1	0	0	0	14725	913	32	4	505	4	SLC5A7	2	108614336	Missense_Mutation	SNP	C	TCGA-CH-5754-01A-11D-1576-08	11643881	108614336	134585037	15	707											
SMARCAL1	50485	broad.mit.edu	37	chr2	217279676	217279676	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agtagctcatctaatgctgaCcaaagacctcatgattccca	13	10	6	12	0	3	3	2	2	1	1	4	3	4	3	3	0	2	3	3	0	3	3			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr2:217279676C>G	ENST00000357276.4	+	3	579	c.249C>G	c.(247-249)gaC>gaG	p.D83E	SMARCAL1_ENST00000358207.5_Missense_Mutation_p.D83E	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	83					chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity	p.D83E(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		CTAATGCTGACCAAAGACCTC	0.478									Schimke Immuno-Osseous Dysplasia				27	134					0	0	1	0	0	G	217279676	C	G	217279676	3	3	15	1	0	0	0	0	1	0	0	0	14827	506	18	4	251	4	SMARCAL1	2	217279676	Missense_Mutation	SNP	C	TCGA-CH-5754-01A-11D-1576-08	108665340	217279676	25919697	16	708											
VIL1	7429	broad.mit.edu	37	chr2	219305571	219305571	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agctccccgagggtgtggacCccagcaggaaggaggtaggt	9	5	17	10	1	0	0	0	0	0	0	1	4	1	3	4	6	2	3	4	6	2	1			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr2:219305571C>T	ENST00000248444.5	+	19	2444	c.2356C>T	c.(2356-2358)Ccc>Tcc	p.P786S	VIL1_ENST00000392114.2_Missense_Mutation_p.P475S	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	786	HP.|Headpiece.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	p.P786S(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGTGTGGACCCCAGCAGGAA	0.537													17	45					0	0	1	0	0	T	219305571	C	T	219305571	3	4	15	1	0	0	0	0	1	0	0	0	17224	623	22	2	2426	2	VIL1	2	219305571	Missense_Mutation	SNP	C	TCGA-CH-5754-01A-11D-1576-08	2025895	219305571	23893802	17	709											
SPEG	10290	broad.mit.edu	37	chr2	220348803	220348803	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgatgctccgcagcccccCgcaccccagcctgcccaaga	8	4	9	20	2	0	2	0	1	0	1	1	2	1	2	8	0	4	3	8	0	1	0			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr2:220348803C>T	ENST00000312358.7	+	30	6750	c.6618C>T	c.(6616-6618)ccC>ccT	p.P2206P	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2206	Pro-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	p.P2206P(2)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CGCAGCCCCCCGCACCCCAGC	0.677													32	44					0	0	1	0	0	T	220348803	C	T	220348803	2	4	15	1	0	0	0	0	0	0	0	1	15092	639	23	1		1	SPEG	2	220348803	Silent	SNP	C	TCGA-CH-5754-01A-11D-1576-08	1043232	220348803	22850570	18	710											
STAC	6769	broad.mit.edu	37	chr3	36524554	36524554	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caccacaagtgcacagatggCctggcaccccagcggtgcat	10	5	11	15	1	0	1	0	0	0	1	0	1	0	1	4	3	3	3	4	3	1	0	rs145962483		TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr3:36524554C>T	ENST00000273183.3	+	3	759	c.459C>T	c.(457-459)ggC>ggT	p.G153G	STAC_ENST00000476388.1_3'UTR|STAC_ENST00000457375.2_Intron	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	153					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding	p.G153G(1)		endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						GCACAGATGGCCTGGCACCCC	0.562													33	90					0	0	1	0	0	T	36524554	C	T	36524554	2	4	15	1	0	0	0	0	0	0	0	1	15295	726	26	2		2	STAC	3	36524554	Silent	SNP	C	TCGA-CH-5754-01A-11D-1576-08		36524554	161497876	19	711											
SCN5A	6331	broad.mit.edu	37	chr3	38618225	38618225	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctccaggagctcagcggtGttggtcatgtctgctgtgct	4	13	14	10	1	3	0	2	0	1	0	4	1	4	1	1	3	5	5	1	3	0	1			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr3:38618225G>A	ENST00000413689.1	-	19	3631	c.3438C>T	c.(3436-3438)aaC>aaT	p.N1146N	SCN5A_ENST00000423572.2_Silent_p.N1145N|SCN5A_ENST00000333535.4_Silent_p.N1146N|SCN5A_ENST00000449557.2_Silent_p.N1092N|SCN5A_ENST00000455624.2_Silent_p.N1145N|SCN5A_ENST00000450102.2_Silent_p.N1092N|SCN5A_ENST00000451551.2_Silent_p.N1092N|SCN5A_ENST00000443581.1_Silent_p.N1145N|SCN5A_ENST00000425664.1_Silent_p.N1146N|SCN5A_ENST00000414099.2_Silent_p.N1146N	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1146					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	p.N1146N(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GCTCAGCGGTGTTGGTCATGT	0.617													3	24					0	0	1	0	0	A	38618225	G	A	38618225	2	1	15	1	0	0	0	0	0	0	0	1	13976	1368	48	2		2	SCN5A	3	38618225	Silent	SNP	G	TCGA-CH-5754-01A-11D-1576-08	2093671	38618225	159404205	20	712											
SCN11A	11280	broad.mit.edu	37	chr3	38946767	38946767	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctcatcaaagtggtccaGtgatagattctgggacagtc	11	11	11	8	0	3	2	2	1	1	1	5	3	4	3	1	2	1	1	1	2	2	2			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr3:38946767G>T	ENST00000450244.1	-	11	1717	c.1519C>A	c.(1519-1521)Ctg>Atg	p.L507M	SCN11A_ENST00000444237.2_Missense_Mutation_p.L507M|SCN11A_ENST00000456224.3_Missense_Mutation_p.L507M|SCN11A_ENST00000302328.3_Missense_Mutation_p.L507M			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	507					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.L507M(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	AAGTGGTCCAGTGATAGATTC	0.512													85	190					4.64247e-43	5.47895e-43	1	1	0	T	38946767	G	T	38946767	3	4	15	1	0	0	0	0	1	0	0	0	13967	1020	36	4	3920	4	SCN11A	3	38946767	Missense_Mutation	SNP	G	TCGA-CH-5754-01A-11D-1576-08	328542	38946767	159075663	21	713											
GBE1	2632	broad.mit.edu	37	chr3	81695585	81695585	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgatttggtaaccaaagctgGcatagtaagcatgctccatg	12	11	10	8	0	0	1	0	1	0	0	1	1	1	1	2	2	4	6	2	2	4	4			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr3:81695585G>A	ENST00000429644.2	-	6	1383	c.740C>T	c.(739-741)gCc>gTc	p.A247V	GBE1_ENST00000489715.1_Missense_Mutation_p.A206V	NM_000158.3	NP_000149.3	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	247					glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	p.A247V(2)		breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		ACCAAAGCTGGCATAGTAAGC	0.338									Glycogen Storage Disease, type IV				54	111					0	0	1	0	0	A	81695585	G	A	81695585	3	1	15	1	0	0	0	0	1	0	0	0	6310	1203	42	2	1412	2	GBE1	3	81695585	Missense_Mutation	SNP	G	TCGA-CH-5754-01A-11D-1576-08	42748818	81695585	116326845	22	714											
DNAJC13	23317	broad.mit.edu	37	chr3	132198111	132198111	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agataggttgattctcttccTtaacaagttgatccttaata	12	16	6	7	0	1	3	0	2	1	1	4	3	3	3	2	1	1	2	2	1	5	8			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr3:132198111T>C	ENST00000260818.6	+	25	2998	c.2750T>C	c.(2749-2751)cTt>cCt	p.L917P		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	917							heat shock protein binding	p.L917P(1)|p.L300P(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						ATTCTCTTCCTTAACAAGTTG	0.303													15	153					0	0	1	0	0	C	132198111	T	C	132198111	3	2	15	1	0	0	0	0	1	0	0	0	4659	1609	56	3	2844	3	DNAJC13	3	132198111	Missense_Mutation	SNP	T	TCGA-CH-5754-01A-11D-1576-08	50502526	132198111	65824319	23	715											
CEP63	80254	broad.mit.edu	37	chr3	134264447	134264447	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggctcagcttgtcaatcggaAacagaaattagagtctgtgg	12	10	12	7	1	3	2	2	0	1	2	4	3	3	3	0	3	2	2	0	3	4	2			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr3:134264447A>C	ENST00000337090.3	+	7	748	c.575A>C	c.(574-576)aAa>aCa	p.K192T	CEP63_ENST00000354446.3_Missense_Mutation_p.K192T|CEP63_ENST00000332047.5_Missense_Mutation_p.K192T|CEP63_ENST00000606977.1_Missense_Mutation_p.K192T|CEP63_ENST00000513612.2_Missense_Mutation_p.K192T|CEP63_ENST00000383229.3_Missense_Mutation_p.K192T			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	192					cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding	p.K192T(1)		kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GTCAATCGGAAACAGAAATTA	0.353													34	119					0	0	1	0	0	C	134264447	A	C	134264447	3	2	15	1	0	0	0	0	1	0	0	0	3279	14	1	5	597	5	CEP63	3	134264447	Missense_Mutation	SNP	A	TCGA-CH-5754-01A-11D-1576-08	2066336	134264447	63757983	24	716											
IGSF10	285313	broad.mit.edu	37	chr3	151161667	151161667	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgtttcctcttagataaatCaagtcctgagaagaaaaaaa	17	11	6	7	0	2	3	1	1	1	3	4	4	4	3	2	0	0	1	2	0	8	3			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr3:151161667C>G	ENST00000282466.3	-	5	5067	c.5068G>C	c.(5068-5070)Gat>Cat	p.D1690H		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1690	Ig-like C2-type 3.				cell differentiation|multicellular organismal development|ossification	extracellular region		p.D1690H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTAGATAAATCAAGTCCTGAG	0.398													24	96					0	0	1	0	0	G	151161667	C	G	151161667	3	3	15	1	0	0	0	0	1	0	0	0	7641	826	29	4	2859	4	IGSF10	3	151161667	Missense_Mutation	SNP	C	TCGA-CH-5754-01A-11D-1576-08	16897220	151161667	46860763	25	717											
PSMD2	5708	broad.mit.edu	37	chr3	184026525	184026525	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtgggccaggctggcaaGccgaagactatcacagggtt	9	7	16	9	1	1	1	1	0	0	1	1	2	1	1	2	5	1	3	2	5	3	2			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr3:184026525G>C	ENST00000310118.4	+	21	3132	c.2574G>C	c.(2572-2574)aaG>aaC	p.K858N	EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_Missense_Mutation_p.K728N|PSMD2_ENST00000435761.1_Missense_Mutation_p.K699N	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	858					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	p.K858N(1)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	AGGCTGGCAAGCCGAAGACTA	0.547											OREG0015948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	106					0	0	1	0	0	C	184026525	G	C	184026525	3	2	15	1	0	0	0	0	1	0	0	0	12747	962	34	4	2656	4	PSMD2	3	184026525	Missense_Mutation	SNP	G	TCGA-CH-5754-01A-11D-1576-08	32864858	184026525	13995905	26	718											
MASP1	5648	broad.mit.edu	37	chr3	186971086	186971086	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccacagaaaggccccaaaacTtttggaccaactttgatctg	13	9	7	12	0	1	2	0	1	1	1	1	3	1	3	4	2	2	0	4	2	4	3			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr3:186971086T>G	ENST00000337774.5	-	6	1151	c.762A>C	c.(760-762)aaA>aaC	p.K254N	MASP1_ENST00000392470.2_Missense_Mutation_p.K228N|MASP1_ENST00000392472.2_Missense_Mutation_p.K141N|MASP1_ENST00000296280.6_Missense_Mutation_p.K254N|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000169293.6_Missense_Mutation_p.K254N	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	254	CUB 2.|Interaction with FCN2.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	p.K254N(2)|p.K254K(2)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		GCCCCAAAACTTTTGGACCAA	0.498													159	436					0	0	1	0	0	G	186971086	T	G	186971086	3	3	15	1	0	0	0	0	1	0	0	0	9372	1606	56	5	2326	5	MASP1	3	186971086	Missense_Mutation	SNP	T	TCGA-CH-5754-01A-11D-1576-08	2944561	186971086	11051344	27	719											
ATP13A3	79572	broad.mit.edu	37	chr3	194126843	194126843	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccccaccgatccactgaCtcctaagaaaataagaaaaa	17	8	4	12	1	0	3	0	1	0	2	3	4	3	3	5	0	0	0	5	0	6	3			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr3:194126843C>T	ENST00000439040.1	-	33	4277	c.3486G>A	c.(3484-3486)gaG>gaA	p.E1162E	ATP13A3_ENST00000256031.4_Silent_p.E1162E			Q9H7F0	AT133_HUMAN	ATPase type 13A3	1162					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.E1162E(1)		NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		GATCCACTGACTCCTAAGAAA	0.428													14	133					0	0	1	0	0	T	194126843	C	T	194126843	2	4	15	1	0	0	0	0	0	0	0	1	1124	564	20	2		2	ATP13A3	3	194126843	Silent	SNP	C	TCGA-CH-5754-01A-11D-1576-08	7155757	194126843	3895587	28	720											
NUP54	53371	broad.mit.edu	37	chr4	77036593	77036593	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctttatatcttctagatCgtctttaatgatgctaatca	11	17	5	8	1	4	2	1	1	3	1	5	2	4	2	0	0	2	2	0	0	5	8			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr4:77036593C>A	ENST00000264883.3	-	12	1590	c.1450G>T	c.(1450-1452)Gat>Tat	p.D484Y	NUP54_ENST00000458189.2_Missense_Mutation_p.D304Y|NUP54_ENST00000342467.6_Missense_Mutation_p.D268Y|NUP54_ENST00000514987.1_Missense_Mutation_p.D436Y	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	484					carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm		p.D484Y(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						TCTTCTAGATCGTCTTTAATG	0.333													44	92					2.58029e-29	2.93928e-29	1	1	0	A	77036593	C	A	77036593	3	1	15	1	0	0	0	0	1	0	0	0	10815	884	31	4	77	4	NUP54	4	77036593	Missense_Mutation	SNP	C	TCGA-CH-5754-01A-11D-1576-08		77036593	114117683	29	721											
FSTL5	56884	broad.mit.edu	37	chr4	162577600	162577600	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgtcccacagttgctgcAgtgatgcttagtttctgatc	6	16	9	10	0	1	2	0	2	1	0	3	2	2	2	1	0	3	5	1	0	1	4			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr4:162577600A>G	ENST00000306100.5	-	7	1210	c.774T>C	c.(772-774)acT>acC	p.T258T	FSTL5_ENST00000427802.2_Silent_p.T257T|FSTL5_ENST00000511170.1_5'UTR|FSTL5_ENST00000379164.4_Silent_p.T257T|FSTL5_ENST00000536695.1_Silent_p.T257T	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	258	Ig-like 1.					extracellular region	calcium ion binding	p.T258T(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CAGTTGCTGCAGTGATGCTTA	0.398													18	88					0	0	1	0	0	G	162577600	A	G	162577600	2	3	15	1	0	0	0	0	0	0	0	1	6115	175	7	3		3	FSTL5	4	162577600	Silent	SNP	A	TCGA-CH-5754-01A-11D-1576-08	85541007	162577600	28576676	30	722											
PCDHA1	0	broad.mit.edu	37	chr5	140166478	140166478	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaattgagaaaatatttggaTagagaagaaacaccagaact	20	8	9	4	0	0	4	0	1	0	4	0	8	0	5	1	1	2	0	1	1	8	4			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr5:140166478T>A	ENST00000504120.2	+	1	603	c.603T>A	c.(601-603)gaT>gaA	p.D201E	PCDHA1_ENST00000378133.3_Missense_Mutation_p.D201E|PCDHA1_ENST00000394633.3_Missense_Mutation_p.D201E	NM_018900.2	NP_061723.1												p.D201E(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATATTTGGATAGAGAAGAAA	0.453													11	121					0	0	1	0	0	A	140166478	T	A	140166478	3	1	15	1	0	0	0	0	1	0	0	0	11566	1403	49	5	605	5	PCDHA1	5	140166478	Missense_Mutation	SNP	T	TCGA-CH-5754-01A-11D-1576-08		140166478	40748782	31	723											
PGBD1	84547	broad.mit.edu	37	chr6	28269738	28269738	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtctgtgctccaatgctgtgGgcatagaaccagtcaatgag	10	10	12	9	0	2	2	1	1	1	1	3	2	3	2	2	1	3	3	2	1	4	1			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr6:28269738G>C	ENST00000405948.2	+	7	2527	c.2107G>C	c.(2107-2109)Ggc>Cgc	p.G703R	PGBD1_ENST00000259883.3_Missense_Mutation_p.G703R	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	703					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	p.G703R(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						CAATGCTGTGGGCATAGAACC	0.398													24	251					0	0	1	0	0	C	28269738	G	C	28269738	3	2	15	1	0	0	0	0	1	0	0	0	11828	1232	43	4	2129	4	PGBD1	6	28269738	Missense_Mutation	SNP	G	TCGA-CH-5754-01A-11D-1576-08		28269738	142845329	32	724											
DST	667	broad.mit.edu	37	chr6	56341001	56341001	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atctcctgggggatgacttcTttatccttatcagtaagtgt	8	16	9	8	0	3	1	1	1	2	0	5	2	4	2	2	2	0	1	2	2	3	5			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr6:56341001T>C	ENST00000370754.5	-	92	21716	c.21717A>G	c.(21715-21717)aaA>aaG	p.K7239K	DST_ENST00000370769.4_Silent_p.K7061K|DST_ENST00000361203.3_Silent_p.K6950K|DST_ENST00000244364.6_Silent_p.K4647K|DST_ENST00000421834.2_Silent_p.K4973K|DST_ENST00000446842.2_Silent_p.K6735K|DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_Silent_p.K4864K			Q03001	DYST_HUMAN	dystonin	7059	EF-hand 2.				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	p.K4647K(1)|p.K7061K(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GGATGACTTCTTTATCCTTAT	0.423													7	43					0	0	1	0	0	C	56341001	T	C	56341001	2	2	15	1	0	0	0	0	0	0	0	1	4809	1606	56	3		3	DST	6	56341001	Silent	SNP	T	TCGA-CH-5754-01A-11D-1576-08	28071263	56341001	114774066	33	725											
PARK2	5071	broad.mit.edu	37	chr6	161969991	161969991	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcataacacgccccccatCtgcaggacacactcctctgc	9	6	8	18	1	2	0	0	0	2	0	3	1	3	1	4	2	3	2	4	2	1	1			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr6:161969991C>A	ENST00000366898.1	-	9	1080	c.978G>T	c.(976-978)caG>caT	p.Q326H	PARK2_ENST00000366896.1_Missense_Mutation_p.Q177H|PARK2_ENST00000366897.1_Missense_Mutation_p.Q298H|PARK2_ENST00000366892.1_Missense_Mutation_p.Q326H|PARK2_ENST00000338468.3_Missense_Mutation_p.Q135H|PARK2_ENST00000366894.1_Missense_Mutation_p.Q135H	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	326					aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	p.Q326H(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		CGCCCCCCATCTGCAGGACAC	0.577													60	150					1.31726e-23	1.43801e-23	1	1	0	A	161969991	C	A	161969991	3	1	15	1	0	0	0	0	1	0	0	0	11496	912	32	4	435	4	PARK2	6	161969991	Missense_Mutation	SNP	C	TCGA-CH-5754-01A-11D-1576-08	105628990	161969991	9145076	34	726											
OR2AE1	81392	broad.mit.edu	37	chr7	99474214	99474214	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacggatgcccccaaccatGacatgacagccatcatcagt	12	7	7	15	1	3	2	3	2	0	0	3	3	3	3	4	1	3	0	4	1	1	0			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr7:99474214G>T	ENST00000316368.2	-	1	466	c.443C>A	c.(442-444)tCa>tAa	p.S148*		NM_001005276.1	NP_001005276.1	Q8NHA4	O2AE1_HUMAN	olfactory receptor, family 2, subfamily AE, member 1	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S148*(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					CCCCAACCATGACATGACAGC	0.502													54	122					4.1673e-28	4.66596e-28	1	1	0	T	99474214	G	T	99474214	4	4	15	1	0	0	0	0	0	1	0	0	11031	1294	45	4	532	4	OR2AE1	7	99474214	Nonsense_Mutation	SNP	G	TCGA-CH-5754-01A-11D-1576-08		99474214	59664449	35	727											
SERPINE1	5054	broad.mit.edu	37	chr7	100775170	100775170	+	Silent	SNP	T	T	C																															ccataggtatgatcagcaacTtgcttgggaaaggagccgtg																										TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr7:100775170T>C	ENST00000223095.4	+	4	677	c.520T>C	c.(520-522)Ttg>Ctg	p.L174L	SERPINE1_ENST00000445463.2_Silent_p.L159L	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	174					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity	p.L174L(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	GATCAGCAACTTGCTTGGGAA	0.493													20	317					0	0	1	0	0	C	100775170	T	C	100775170	2	2	15	1	0	0	0	0	0	0	0	1	14165	1606	56	3		3	SERPINE1	7	100775170	Silent	SNP	T	TCGA-CH-5754-01A-11D-1576-08	1300956	100775170	58363493	36	728	3	2									
SERPINE1	5054	broad.mit.edu	37	chr7	100775172	100775172	+	Silent	SNP	G	G	A																															ataggtatgatcagcaacttGcttgggaaaggagccgtgga																										TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr7:100775172G>A	ENST00000223095.4	+	4	679	c.522G>A	c.(520-522)ttG>ttA	p.L174L	SERPINE1_ENST00000445463.2_Silent_p.L159L	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	174					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity	p.L174L(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	TCAGCAACTTGCTTGGGAAAG	0.498													19	311					0	0	1	0	0	A	100775172	G	A	100775172	2	1	15	1	0	0	0	0	0	0	0	1	14165	1310	46	2		2	SERPINE1	7	100775172	Silent	SNP	G	TCGA-CH-5754-01A-11D-1576-08	2	100775172	58363491	37	729	3	2									
C7orf60	154743	broad.mit.edu	37	chr7	112555403	112555403	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcgccctcacaagtttttGcccaatgattatctgccaaa	10	13	5	13	1	2	1	1	1	1	0	3	1	2	1	3	0	2	1	3	0	4	4			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr7:112555403G>C	ENST00000297145.4	-	2	425	c.260C>G	c.(259-261)gCa>gGa	p.A87G	C7orf60_ENST00000485446.1_5'UTR	NM_152556.2	NP_689769.2	Q1RMZ1	CG060_HUMAN	chromosome 7 open reading frame 60	87								p.A87G(1)		breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						ACAAGTTTTTGCCCAATGATT	0.363													49	147					0	0	1	0	0	C	112555403	G	C	112555403	3	2	15	1	0	0	0	0	1	0	0	0	2423	1319	46	4	973	4	C7orf60	7	112555403	Missense_Mutation	SNP	G	TCGA-CH-5754-01A-11D-1576-08	11780231	112555403	46583260	38	730											
CNOT4	4850	broad.mit.edu	37	chr7	135106938	135106938	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcgctgagataaacctacAacaaagacgaggtttttttg	14	10	10	7	2	0	2	0	1	0	2	0	4	0	2	1	2	3	2	1	2	5	5			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr7:135106938A>C	ENST00000428680.2	-	3	618	c.339T>G	c.(337-339)gtT>gtG	p.V113V	CNOT4_ENST00000423368.2_Silent_p.V113V|CNOT4_ENST00000315544.5_Silent_p.V113V|CNOT4_ENST00000451834.1_Silent_p.V113V|CNOT4_ENST00000414802.1_Silent_p.V113V|CNOT4_ENST00000541284.1_Silent_p.V113V|CNOT4_ENST00000356162.4_Silent_p.V113V|CNOT4_ENST00000361528.4_Silent_p.V113V	NM_001008225.2	NP_001008226.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	113	RRM.				nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	p.V113V(2)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						ATAAACCTACAACAAAGACGA	0.348													54	128					0	0	1	0	0	C	135106938	A	C	135106938	2	2	15	1	0	0	0	0	0	0	0	1	3644	117	5	5		5	CNOT4	7	135106938	Silent	SNP	A	TCGA-CH-5754-01A-11D-1576-08	22551535	135106938	24031725	39	731											
ESYT2	57488	broad.mit.edu	37	chr7	158557460	158557460	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctaatgattccataggggtCtgactttcccttgacaagtc	9	14	8	10	0	2	3	0	3	2	0	5	3	4	3	2	2	0	0	2	2	3	5			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr7:158557460C>G	ENST00000251527.5	-	9	1218	c.1153G>C	c.(1153-1155)Gac>Cac	p.D385H		NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	413	C2 1.					integral to membrane|plasma membrane		p.D385H(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						CCATAGGGGTCTGACTTTCCC	0.433													41	323					0	0	1	0	0	G	158557460	C	G	158557460	3	3	15	1	0	0	0	0	1	0	0	0	5293	913	32	4	1584	4	ESYT2	7	158557460	Missense_Mutation	SNP	C	TCGA-CH-5754-01A-11D-1576-08	23450522	158557460	581203	40	732											
PREX2	80243	broad.mit.edu	37	chr8	69002823	69002823	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtatttataggaactgtggCtgcagcagctggtcttcacc	8	13	11	9	0	2	0	1	0	1	0	2	1	2	1	1	3	4	5	1	3	4	5			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr8:69002823C>T	ENST00000288368.4	+	20	2400	c.2123C>T	c.(2122-2124)gCt>gTt	p.A708V	PREX2_ENST00000529398.1_3'UTR|RP11-403D15.2_ENST00000526901.1_RNA	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	708	PDZ 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	p.A708V(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GGAACTGTGGCTGCAGCAGCT	0.368													54	63					0	0	1	0	0	T	69002823	C	T	69002823	3	4	15	1	0	0	0	0	1	0	0	0	12529	797	28	2	2201	2	PREX2	8	69002823	Missense_Mutation	SNP	C	TCGA-CH-5754-01A-11D-1576-08		69002823	77361199	41	733											
GRHL2	79977	broad.mit.edu	37	chr8	102570788	102570788	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgggaacagtacagcatcagCttccccgagagctctgccat	10	7	10	14	2	2	1	1	0	1	1	3	3	3	2	3	1	6	4	3	1	2	2			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr8:102570788C>A	ENST00000251808.3	+	4	764	c.426C>A	c.(424-426)agC>agA	p.S142R	GRHL2_ENST00000395927.1_Missense_Mutation_p.S126R	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	142						cytoplasm|nucleus	DNA binding	p.S142R(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			ACAGCATCAGCTTCCCCGAGA	0.517													70	235					4.09166e-32	4.78578e-32	1	1	0	A	102570788	C	A	102570788	3	1	15	1	0	0	0	0	1	0	0	0	6805	796	28	4	440	4	GRHL2	8	102570788	Missense_Mutation	SNP	C	TCGA-CH-5754-01A-11D-1576-08	33567965	102570788	43793234	42	734											
SNTB1	6641	broad.mit.edu	37	chr8	121554095	121554095	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctaaatacagcatcctgatTccatcatctgaagacatttt	13	14	4	10	0	3	3	1	2	2	1	5	3	5	3	2	0	2	1	2	0	4	5			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr8:121554095T>A	ENST00000395601.3	-	7	1893	c.1479A>T	c.(1477-1479)ggA>ggT	p.G493G	SNTB1_ENST00000517992.1_Silent_p.G493G|MTBP_ENST00000519841.1_Intron	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	493	SU.				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding	p.G493G(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			GCATCCTGATTCCATCATCTG	0.363													10	219					0	0	1	0	0	A	121554095	T	A	121554095	2	1	15	1	0	0	0	0	0	0	0	1	14926	1770	62	5		5	SNTB1	8	121554095	Silent	SNP	T	TCGA-CH-5754-01A-11D-1576-08	18983307	121554095	24809927	43	735											
FAM83A	84985	broad.mit.edu	37	chr8	124219675	124219675	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtacccgaagtgtgtccgCgtcttcagggccctgtagcc	5	9	13	14	4	2	0	1	0	1	0	3	1	3	0	4	2	2	2	4	2	3	3			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr8:124219675C>T	ENST00000518448.1	+	5	3066	c.1052C>T	c.(1051-1053)gCg>gTg	p.A351V	FAM83A_ENST00000536633.1_Intron|FAM83A_ENST00000546351.1_Intron|FAM83A_ENST00000522648.1_Intron|FAM83A_ENST00000318462.6_Missense_Mutation_p.A351V|FAM83A_ENST00000276699.6_Intron			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	351	Ser-rich.							p.A351V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			AGTGTGTCCGCGTCTTCAGGG	0.731													6	28					0	0	1	0	0	T	124219675	C	T	124219675	3	4	15	1	0	0	0	0	1	0	0	0	5665	768	27	1	1066	1	FAM83A	8	124219675	Missense_Mutation	SNP	C	TCGA-CH-5754-01A-11D-1576-08	2665580	124219675	22144347	44	736											
ATAD2	29028	broad.mit.edu	37	chr8	124350061	124350065	+	Splice_Site	DEL	ACTTC	ACTTC	-																															gtacctccaaagcctgcaaaActtcacatgaatggaagaat																										TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr8:124350061_124350065delACTTC	ENST00000287394.5	-	21	2962	c.2854_splice	c.e21-1	p.952_splice	ATAD2_ENST00000521903.1_Splice_Site_p.270_splice	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	952					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			AGCCTGCAAAACTTCACATGAATGG	0.41													18	130	---	---	---	---						-	124350065	ACTTC	-	124350061	8	5	15	1	0	1	0	1	0	0	1	0	1070	57	2	0	1349	0	ATAD2	8	124350061	Splice_Site	DEL	ACTTC	TCGA-CH-5754-01A-11D-1576-08	130386	124350061	22013961	45	737											
COL22A1	169044	broad.mit.edu	37	chr8	139809072	139809072	+	Frame_Shift_Del	DEL	T	T	-																															agatgcttaccttttcacccTtttccccttggccaaaaggt																										TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr8:139809072delT	ENST00000303045.6	-	12	2032	c.1586delA	c.(1585-1587)agfs	p.K529fs	COL22A1_ENST00000435777.1_Frame_Shift_Del_p.K529fs	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	529	Collagen-like 2.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTTTTCACCCTTTTCCCCTTG	0.463										HNSCC(7;0.00092)			7	785	---	---	---	---						-	139809072	T	-	139809072	7	5	15	1	0	1	0	1	0	0	0	0	3704	1609	56	0	3510	0	COL22A1	8	139809072	Frame_Shift_Del	DEL	T	TCGA-CH-5754-01A-11D-1576-08	15459011	139809072	6554950	46	738											
TSTA3	7264	broad.mit.edu	37	chr8	144696809	144696809	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacctgttctgcacgtcgAtcatcctcttggcatacgag	8	11	10	12	3	3	0	1	0	2	0	5	3	4	1	2	2	2	3	2	2	1	3			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr8:144696809A>C	ENST00000425753.2	-	5	552	c.449T>G	c.(448-450)aTc>aGc	p.I150S	TSTA3_ENST00000529064.1_Missense_Mutation_p.I150S	NM_003313.3	NP_003304.1	Q13630	FCL_HUMAN	tissue specific transplantation antigen P35B	150					'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion		coenzyme binding|electron carrier activity|GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|isomerase activity	p.I150S(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		NADH(DB00157)	CTGCACGTCGATCATCCTCTT	0.662													27	119					0	0	1	0	0	C	144696809	A	C	144696809	3	2	15	1	0	0	0	0	1	0	0	0	16735	333	12	5	544	5	TSTA3	8	144696809	Missense_Mutation	SNP	A	TCGA-CH-5754-01A-11D-1576-08	4887737	144696809	1667213	47	739											
KANK1	23189	broad.mit.edu	37	chr9	711931	711931	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacagcagctgtgaggccTcctcagagctcagggagaat	11	6	14	10	0	2	3	2	1	0	2	3	5	3	4	2	3	3	3	2	3	1	0			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr9:711931T>C	ENST00000382303.1	+	7	1817	c.1165T>C	c.(1165-1167)Tcc>Ccc	p.S389P	KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Missense_Mutation_p.S231P|KANK1_ENST00000382297.2_Missense_Mutation_p.S389P	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	389					negative regulation of actin filament polymerization	cytoplasm		p.S231P(2)|p.S389P(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		CTGTGAGGCCTCCTCAGAGCT	0.577													22	68					0	0	1	0	0	C	711931	T	C	711931	3	2	15	1	0	0	0	0	1	0	0	0	8020	1551	54	3	1171	3	KANK1	9	711931	Missense_Mutation	SNP	T	TCGA-CH-5754-01A-11D-1576-08		711931	140501500	48	740											
TAF1L	138474	broad.mit.edu	37	chr9	32632549	32632549	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcgacgaaggtctgcatctGttcctgtcactgtcttcttc	5	14	10	12	2	5	0	1	0	4	0	7	2	6	0	1	2	1	2	1	2	1	3			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr9:32632549G>A	ENST00000242310.4	-	1	3118	c.3029C>T	c.(3028-3030)aCa>aTa	p.T1010I		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1010					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	p.T1010I(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GTCTGCATCTGTTCCTGTCAC	0.458													154	334					0	0	1	0	0	A	32632549	G	A	32632549	3	1	15	1	0	0	0	0	1	0	0	0	15580	1377	48	2	2455	2	TAF1L	9	32632549	Missense_Mutation	SNP	G	TCGA-CH-5754-01A-11D-1576-08	31920618	32632549	108580882	49	741											
KIF24	347240	broad.mit.edu	37	chr9	34257426	34257426	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtactcagccctgtggtgggCgttgccaaaggagagctcaa	9	8	14	10	1	2	1	2	0	0	1	2	2	2	1	2	3	4	3	2	3	3	2			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr9:34257426C>T	ENST00000379166.2	-	11	2298	c.2179G>A	c.(2179-2181)Gcc>Acc	p.A727T	KIF24_ENST00000402558.2_Missense_Mutation_p.A727T|KIF24_ENST00000379174.3_Missense_Mutation_p.A593T|KIF24_ENST00000345050.2_Missense_Mutation_p.A593T	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	kinesin family member 24	727					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.A209T(1)|p.A727T(1)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			CTGTGGTGGGCGTTGCCAAAG	0.567													134	303					0	0	1	0	0	T	34257426	C	T	34257426	3	4	15	1	0	0	0	0	1	0	0	0	8334	768	27	1	1939	1	KIF24	9	34257426	Missense_Mutation	SNP	C	TCGA-CH-5754-01A-11D-1576-08	1624877	34257426	106956005	50	742											
ZBTB43	23099	broad.mit.edu	37	chr9	129595973	129595973	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggcacatgagcatgcacctCggtcttcggccttacggctg	6	9	12	14	4	1	1	0	1	1	0	3	1	1	1	2	4	3	4	2	4	1	2			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr9:129595973C>T	ENST00000373464.4	+	3	1449	c.1185C>T	c.(1183-1185)ctC>ctT	p.L395L	ZBTB43_ENST00000373457.1_Silent_p.L395L|ZBTB43_ENST00000449886.1_Silent_p.L395L	NM_014007.3	NP_054726.1	O43298	ZBT43_HUMAN	zinc finger and BTB domain containing 43	395					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L395L(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						GCATGCACCTCGGTCTTCGGC	0.498													71	124					0	0	1	0	0	T	129595973	C	T	129595973	2	4	15	1	0	0	0	0	0	0	0	1	17603	871	31	1		1	ZBTB43	9	129595973	Silent	SNP	C	TCGA-CH-5754-01A-11D-1576-08	95338547	129595973	11617458	51	743											
FBXO18	84893	broad.mit.edu	37	chr10	5948526	5948526	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacgtgtttgccttcctcccGgtggaagacctctattggaa	7	12	10	12	2	1	1	0	0	1	1	3	3	3	3	4	3	1	1	4	3	3	4			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr10:5948526G>A	ENST00000397269.3	+	0	853				FBXO18_ENST00000362091.4_Silent_p.P228P|FBXO18_ENST00000470089.1_3'UTR|FBXO18_ENST00000379999.5_Silent_p.P279P	NM_001258452.1	NP_001245381.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18						DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	p.P279P(1)		NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						CCTTCCTCCCGGTGGAAGACC	0.567													42	138					0	0	1	0	0	A	5948526	G	A	5948526	1	1	15	1	0	0	0	0	0	0	0	0	5764	1103	39	1		1	FBXO18	10	5948526	Translation_Start_Site	SNP	G	TCGA-CH-5754-01A-11D-1576-08		5948526	129586221	52	744											
SPAG6	9576	broad.mit.edu	37	chr10	22690118	22690118	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccataaagaatatcctgcAaaaatgtacctacttaccag	17	9	5	10	0	0	1	0	0	0	1	1	1	1	1	4	0	5	2	4	0	9	5			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr10:22690118A>G	ENST00000376603.2	+	9	1596	c.1454A>G	c.(1453-1455)cAa>cGa	p.Q485R	RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000376624.3_Missense_Mutation_p.Q409R|SPAG6_ENST00000538630.1_Missense_Mutation_p.Q384R|SPAG6_ENST00000313311.6_Missense_Mutation_p.Q409R|SPAG6_ENST00000490361.1_3'UTR|SPAG6_ENST00000376601.1_Missense_Mutation_p.Q170R			O75602	SPAG6_HUMAN	sperm associated antigen 6	409					cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding	p.Q409R(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						AATATCCTGCAAAAATGTACC	0.348													11	124					0	0	1	0	0	G	22690118	A	G	22690118	3	3	15	1	0	0	0	0	1	0	0	0	15038	130	5	3	1260	3	SPAG6	10	22690118	Missense_Mutation	SNP	A	TCGA-CH-5754-01A-11D-1576-08	16741592	22690118	112844629	53	745											
RBP3	5949	broad.mit.edu	37	chr10	48390797	48390797	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accttggccatgtccagcacCaggcttggctggaacaggtg	8	8	13	12	0	0	0	0	0	0	0	1	1	1	1	4	5	2	3	4	5	1	2			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr10:48390797C>A	ENST00000224600.4	-	1	194	c.81G>T	c.(79-81)ctG>ctT	p.L27L		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	27	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	p.L27L(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TGTCCAGCACCAGGCTTGGCT	0.602													23	64					4.7796e-09	5.00902e-09	1	1	0	A	48390797	C	A	48390797	2	1	15	1	0	0	0	0	0	0	0	1	13209	581	21	4		4	RBP3	10	48390797	Silent	SNP	C	TCGA-CH-5754-01A-11D-1576-08	25700679	48390797	87143950	54	746											
ZNF518A	9849	broad.mit.edu	37	chr10	97918959	97918959	+	RNA	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctggaaatgcacttccattGgttaattcacaaggtatccc	11	12	7	11	0	1	0	1	0	0	0	3	1	3	1	3	3	1	3	3	3	4	5			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr10:97918959G>C	ENST00000534948.1	+	0	3737							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L960F(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		CACTTCCATTGGTTAATTCAC	0.363													55	262					0	0	1	0	0	C	97918959	G	C	97918959	1	2	15	0	1	0	0	0	0	0	0	0	18019	1339	47	4		4	ZNF518A	10	97918959	RNA	SNP	G	TCGA-CH-5754-01A-11D-1576-08	49528162	97918959	37615788	55	747											
CRTAC1	55118	broad.mit.edu	37	chr10	99655149	99655149	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgggtgcgtggcaccactcGcagccagttgttgttgaagc	6	9	14	12	3	0	1	0	1	0	0	1	1	0	1	3	2	3	5	3	2	1	3			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr10:99655149G>A	ENST00000370597.3	-	11	1694	c.1339C>T	c.(1339-1341)Cga>Tga	p.R447*	CRTAC1_ENST00000370591.2_Nonsense_Mutation_p.R447*|CRTAC1_ENST00000298819.4_Nonsense_Mutation_p.R447*	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	447						proteinaceous extracellular matrix	calcium ion binding	p.R447*(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		GGCACCACTCGCAGCCAGTTG	0.642													42	93					0	0	1	0	0	A	99655149	G	A	99655149	4	1	15	1	0	0	0	0	0	1	0	0	3919	1095	38	1	666	1	CRTAC1	10	99655149	Nonsense_Mutation	SNP	G	TCGA-CH-5754-01A-11D-1576-08	1736190	99655149	35879598	56	748											
OR5P2	120065	broad.mit.edu	37	chr11	7818051	7818051	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacagcaatgagaaaaccagCtatgtaaactactaagagta	19	7	8	7	0	0	2	0	1	0	2	0	4	0	2	1	0	5	4	1	0	9	5			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr11:7818051C>A	ENST00000329434.2	-	1	469	c.439G>T	c.(439-441)Gct>Tct	p.A147S	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A147S(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGAAAACCAGCTATGTAAACT	0.403													42	137					6.4771e-29	7.31466e-29	1	1	0	A	7818051	C	A	7818051	3	1	15	1	0	0	0	0	1	0	0	0	11225	797	28	4	533	4	OR5P2	11	7818051	Missense_Mutation	SNP	C	TCGA-CH-5754-01A-11D-1576-08		7818051	127188465	57	749											
BSCL2	26580	broad.mit.edu	37	chr11	62462097	62462097	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtagcaggaaatggtgacCaagaacatgcccaaatcttg	14	8	11	8	0	1	2	0	1	1	1	1	3	1	3	2	2	3	2	2	2	5	2			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr11:62462097C>G	ENST00000433053.1	-	5	1129	c.573G>C	c.(571-573)ttG>ttC	p.L191F	RP11-831H9.16_ENST00000403734.2_3'UTR|BSCL2_ENST00000407022.3_Missense_Mutation_p.L127F|BSCL2_ENST00000421906.1_Missense_Mutation_p.L127F|BSCL2_ENST00000537604.1_5'UTR|BSCL2_ENST00000405837.1_Missense_Mutation_p.L191F|BSCL2_ENST00000403550.1_Missense_Mutation_p.L127F|BSCL2_ENST00000278893.7_Missense_Mutation_p.L127F|BSCL2_ENST00000360796.5_Missense_Mutation_p.L191F			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	127					cell death	integral to endoplasmic reticulum membrane		p.L127F(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						AAATGGTGACCAAGAACATGC	0.522											OREG0021029	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	67					0	0	1	0	0	G	62462097	C	G	62462097	3	3	15	1	0	0	0	0	1	0	0	0	1529	593	21	4	847	4	BSCL2	11	62462097	Missense_Mutation	SNP	C	TCGA-CH-5754-01A-11D-1576-08	54644046	62462097	72544419	58	750											
RNASEH2C	84153	broad.mit.edu	37	chr11	65487262	65487273	+	In_Frame_Del	DEL	CGGGCACCTGTG	CGGGCACCTGTG	-																															aagctctggttctcagtcctCgggcacctgtgcgtgaatct																										TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr11:65487262_65487273delCGGGCACCTGTG	ENST00000308418.4	-	4	664_675	c.476_487delCACAGGTGCCCG	c.(475-489)gag>g	p.AQVPE159del	RNASEH2C_ENST00000527610.1_In_Frame_Del_p.RTGAR237del|RNASEH2C_ENST00000528220.1_In_Frame_Del_p.AQVPE76del	NM_032193.3	NP_115569.2	Q8TDP1	RNH2C_HUMAN	ribonuclease H2, subunit C	159					RNA catabolic process	nucleus|ribonuclease H2 complex				cervix(1)	1						TCTCAGTCCTCGGGCACCTGTGCGTGAATCTG	0.528													15	81	---	---	---	---						-	65487273	CGGGCACCTGTG	-	65487262	7	5	15	1	0	1	0	1	0	0	0	0	13466	893	31	0	11	0	RNASEH2C	11	65487262	In_Frame_Del	DEL	CGGGCACCTGTG	TCGA-CH-5754-01A-11D-1576-08	3025165	65487262	69519254	59	751											
TBC1D10C	374403	broad.mit.edu	37	chr11	67173158	67173158	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcacgagatgtttgtgtcGcctcagggccacgggtacga	7	9	14	11	4	1	1	1	0	0	1	2	3	1	1	2	2	2	3	2	2	1	2			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr11:67173158G>A	ENST00000312390.5	+	5	482	c.453G>A	c.(451-453)tcG>tcA	p.S151S	TBC1D10C_ENST00000542590.1_Silent_p.S151S|TBC1D10C_ENST00000526387.1_Silent_p.S151S	NM_198517.3	NP_940919.1	Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	151	Rab-GAP TBC.					intracellular	Rab GTPase activator activity	p.S151S(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			TGTTTGTGTCGCCTCAGGGCC	0.642													40	83					0	0	1	0	0	A	67173158	G	A	67173158	2	1	15	1	0	0	0	0	0	0	0	1	15657	1074	38	1		1	TBC1D10C	11	67173158	Silent	SNP	G	TCGA-CH-5754-01A-11D-1576-08	1685896	67173158	67833358	60	752											
CHRDL2	25884	broad.mit.edu	37	chr11	74421957	74421957	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagctcatgggcactgaaGatctctccgtgttggtacat	10	11	10	10	1	2	2	1	1	1	1	4	2	3	2	1	2	3	4	1	2	3	2			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr11:74421957G>T	ENST00000376332.3	-	4	865	c.369C>A	c.(367-369)atC>atA	p.I123I	CHRDL2_ENST00000263671.5_Silent_p.I123I|CHRDL2_ENST00000534159.1_5'UTR	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	123	VWFC 2.				cartilage development|cell differentiation|ossification	extracellular region|mitochondrion		p.I123I(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					GGGCACTGAAGATCTCTCCGT	0.622													6	54					8.12818e-05	8.2542e-05	1	1	0	T	74421957	G	T	74421957	2	4	15	1	0	0	0	0	0	0	0	1	3396	932	33	4		4	CHRDL2	11	74421957	Silent	SNP	G	TCGA-CH-5754-01A-11D-1576-08	7248799	74421957	60584559	61	753											
INTS4	92105	broad.mit.edu	37	chr11	77702308	77702308	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagatttacttggttttGttagtcggagtttcttagta	7	19	10	5	1	1	1	0	0	1	1	2	2	1	2	0	2	2	5	0	2	4	9			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr11:77702308G>C	ENST00000534064.1	-	2	126	c.92C>G	c.(91-93)aCa>aGa	p.T31R	INTS4_ENST00000529807.1_Missense_Mutation_p.T31R|INTS4_ENST00000527522.1_Missense_Mutation_p.T31R	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	31					snRNA processing	integrator complex	protein binding	p.T31R(1)	INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			ACTTGGTTTTGTTAGTCGGAG	0.443													50	125					0	0	1	0	0	C	77702308	G	C	77702308	3	2	15	1	0	0	0	0	1	0	0	0	7824	1377	48	4	2887	4	INTS4	11	77702308	Missense_Mutation	SNP	G	TCGA-CH-5754-01A-11D-1576-08	3280351	77702308	57304208	62	754											
FAT3	120114	broad.mit.edu	37	chr11	92570900	92570900	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgtcatcaactgcaactgtCaacattgatatttctgatgt	12	15	6	8	0	4	2	3	2	1	0	4	2	4	2	0	0	4	1	0	0	4	3			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr11:92570900C>T	ENST00000298047.6	+	16	10313	c.10296C>T	c.(10294-10296)gtC>gtT	p.V3432V	FAT3_ENST00000409404.2_Silent_p.V3432V|FAT3_ENST00000525166.1_Silent_p.V3282V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3432	Cadherin 31.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.V3432V(2)|p.V7V(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTGCAACTGTCAACATTGATA	0.463										TCGA Ovarian(4;0.039)			32	66					0	0	1	0	0	T	92570900	C	T	92570900	2	4	15	1	0	0	0	0	0	0	0	1	5724	813	29	2		2	FAT3	11	92570900	Silent	SNP	C	TCGA-CH-5754-01A-11D-1576-08	14868592	92570900	42435616	63	755											
KIAA1377	57562	broad.mit.edu	37	chr11	101832589	101832589	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaataaggagcattccacaTccatccagcggaataccatt	14	10	6	11	1	0	0	0	0	0	0	3	2	3	2	4	2	3	1	4	2	4	5			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr11:101832589T>C	ENST00000263468.8	+	6	1093	c.823T>C	c.(823-825)Tcc>Ccc	p.S275P	KIAA1377_ENST00000537689.1_Missense_Mutation_p.S76P	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	275			S -> Y (in dbSNP:rs11225089).				protein binding	p.S275P(1)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		GCATTCCACATCCATCCAGCG	0.373													42	90					0	0	1	0	0	C	101832589	T	C	101832589	3	2	15	1	0	0	0	0	1	0	0	0	8269	1435	50	3	845	3	KIAA1377	11	101832589	Missense_Mutation	SNP	T	TCGA-CH-5754-01A-11D-1576-08	9261689	101832589	33173927	64	756											
C12orf57	113246	broad.mit.edu	37	chr12	7053872	7053877	+	In_Frame_Del	DEL	GAGGGC	GAGGGC	-																															aggcgggagttgggtcgggaGagggcgccggatctgtgggc																										TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr12:7053872_7053877delGAGGGC	ENST00000544681.1	+	2	591_596	c.286_291delGAGGGC	c.(286-291)del	p.EG96del	C12orf57_ENST00000537087.1_Intron|C12orf57_ENST00000542222.1_Intron|C12orf57_ENST00000229281.5_Intron|C12orf57_ENST00000540506.2_Intron			Q99622	C10_HUMAN	chromosome 12 open reading frame 57	0										kidney(1)|large_intestine(1)	2						TGGGTCGGGAGAGGGCGCCGGATCTG	0.636											OREG0011073|OREG0021642	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)|type=TRANSCRIPTION FACTOR BINDING SITE|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip); Conservation found by scanning with a motif model	13	62	---	---	---	---						-	7053877	GAGGGC	-	7053872	7	5	15	1	0	1	0	1	0	0	0	0	1707	957	33	0		0	C12orf57	12	7053872	In_Frame_Del	DEL	GAGGGC	TCGA-CH-5754-01A-11D-1576-08		7053872	126798023	65	757											
FAM90A1	55138	broad.mit.edu	37	chr12	8374854	8374854	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccagctcacctccctggAtggcgctttcggggatctgg	4	9	12	16	2	2	0	1	0	1	0	4	2	3	2	4	5	1	2	4	5	0	1			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr12:8374854A>G	ENST00000538603.1	-	7	1517	c.959T>C	c.(958-960)aTc>aCc	p.I320T	FAM90A1_ENST00000307435.6_Missense_Mutation_p.I320T	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	320							nucleic acid binding|zinc ion binding	p.I320T(1)		endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		ACCTCCCTGGATGGCGCTTTC	0.642													4	47					0	0	1	0	0	G	8374854	A	G	8374854	3	3	15	1	0	0	0	0	1	0	0	0	5681	333	12	3	439	3	FAM90A1	12	8374854	Missense_Mutation	SNP	A	TCGA-CH-5754-01A-11D-1576-08	1320982	8374854	125477041	66	758											
ANO4	121601	broad.mit.edu	37	chr12	101473041	101473041	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gactgggatttgatagactgGgaagaagaggaggtttgtat	12	11	16	2	0	0	4	0	1	0	3	0	8	0	7	0	4	0	2	0	4	4	4			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr12:101473041G>C	ENST00000392979.3	+	14	1639	c.1278G>C	c.(1276-1278)tgG>tgC	p.W426C	ANO4_ENST00000550015.1_Missense_Mutation_p.W28C|ANO4_ENST00000299222.9_Missense_Mutation_p.W28C|ANO4_ENST00000392977.3_Missense_Mutation_p.W461C	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	461						chloride channel complex	chloride channel activity	p.W426C(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TGATAGACTGGGAAGAAGAGG	0.433										HNSCC(74;0.22)			63	159					0	0	1	0	0	C	101473041	G	C	101473041	3	2	15	1	0	0	0	0	1	0	0	0	693	1241	43	4	1328	4	ANO4	12	101473041	Missense_Mutation	SNP	G	TCGA-CH-5754-01A-11D-1576-08	93098187	101473041	32378854	67	759											
CUX2	23316	broad.mit.edu	37	chr12	111785947	111785947	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccccatccccacctggcGccccccctgccaaagtgccg	5	6	7	23	2	1	0	0	0	1	0	3	0	2	0	10	1	2	0	10	1	1	0			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr12:111785947G>A	ENST00000261726.6	+	22	4433	c.4279G>A	c.(4279-4281)Gcc>Acc	p.A1427T		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1427	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A1427T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CCCACCTGGCGCCCCCCCTGC	0.657													12	121					0	0	1	0	0	A	111785947	G	A	111785947	3	1	15	1	0	0	0	0	1	0	0	0	4088	1087	38	1	4365	1	CUX2	12	111785947	Missense_Mutation	SNP	G	TCGA-CH-5754-01A-11D-1576-08	10312906	111785947	22065948	68	760											
BRCA2	675	broad.mit.edu	37	chr13	32906912	32906912	+	Frame_Shift_Del	DEL	A	A	-																															aagacctattagacacagagAacaaaagaaagaaagatttt																										TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr13:32906912delA	ENST00000544455.1	+	10	1524	c.1297delA	c.(1297-1299)acfs	p.N433fs	BRCA2_ENST00000380152.3_Frame_Shift_Del_p.N433fs	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	433					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AGACACAGAGAACAAAAGAAA	0.358			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			82	149	---	---	---	---						-	32906912	A	-	32906912	7	5	15	1	0	1	0	1	0	0	0	0	1501	246	9	0	1331	0	BRCA2	13	32906912	Frame_Shift_Del	DEL	A	TCGA-CH-5754-01A-11D-1576-08		32906912	82262966	69	761											
PRMT5	10419	broad.mit.edu	37	chr14	23398392	23398392	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacccctgcttctccgggaTgactagtctgcccttctccg	4	12	8	17	2	4	1	1	1	3	0	6	2	4	2	5	1	2	1	5	1	1	3			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr14:23398392T>A	ENST00000397441.2	-	1	218	c.43A>T	c.(43-45)Atc>Ttc	p.I15F	PRMT5_ENST00000553641.1_Intron|PRMT5_ENST00000324366.8_Intron|PRMT5_ENST00000216350.8_Missense_Mutation_p.I15F|PRMT5_ENST00000538452.1_5'UTR|PRMT5_ENST00000397440.4_Missense_Mutation_p.I15F|PRMT5_ENST00000553897.1_Intron	NM_001039619.1	NP_001034708.1	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	0					cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding	p.I15F(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		TTCTCCGGGATGACTAGTCTG	0.627													41	91					0	0	1	0	0	A	23398392	T	A	23398392	3	1	15	1	0	0	0	0	1	0	0	0	12591	1464	51	5	1887	5	PRMT5	14	23398392	Missense_Mutation	SNP	T	TCGA-CH-5754-01A-11D-1576-08		23398392	83951148	70	762											
NYNRIN	57523	broad.mit.edu	37	chr14	24885319	24885319	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcccaggggggtgggcagtGgtggagtttgccaaaggatg	7	8	20	6	0	0	0	0	0	0	0	0	2	0	2	2	7	2	2	2	7	1	1			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr14:24885319G>C	ENST00000382554.3	+	9	4682	c.4364G>C	c.(4363-4365)tGg>tCg	p.W1455S		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1455					DNA integration	integral to membrane	DNA binding	p.W1455S(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GGTGGGCAGTGGTGGAGTTTG	0.592													36	62					0	0	1	0	0	C	24885319	G	C	24885319	3	2	15	1	0	0	0	0	1	0	0	0	10844	1357	47	4	4394	4	NYNRIN	14	24885319	Missense_Mutation	SNP	G	TCGA-CH-5754-01A-11D-1576-08	1486927	24885319	82464221	71	763											
FSCB	84075	broad.mit.edu	37	chr14	44976183	44976183	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	catcagtttgctgggatttgCctaccattggtttgctgggt	5	16	12	8	0	1	0	1	0	0	0	1	1	1	1	2	3	4	4	2	3	1	5			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr14:44976183C>A	ENST00000340446.4	-	1	299	c.8G>T	c.(7-9)gGc>gTc	p.G3V		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	3						cilium		p.G3V(1)		breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		CTGGGATTTGCCTACCATTGG	0.413													105	274					4.98428e-49	5.93583e-49	1	1	0	A	44976183	C	A	44976183	3	1	15	1	0	0	0	0	1	0	0	0	6101	739	26	4	2473	4	FSCB	14	44976183	Missense_Mutation	SNP	C	TCGA-CH-5754-01A-11D-1576-08	20090864	44976183	62373357	72	764											
FANCM	57697	broad.mit.edu	37	chr14	45639925	45639925	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctcaagttcagttttcttcTttacaaaatgaggaaaacaa	15	13	5	8	0	4	1	2	1	2	0	4	2	4	2	1	1	2	2	1	1	7	6			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr14:45639925T>G	ENST00000267430.5	+	12	2221	c.2136T>G	c.(2134-2136)tcT>tcG	p.S712S	FANCM_ENST00000542564.2_Silent_p.S686S	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	712					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	p.S712S(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AGTTTTCTTCTTTACAAAATG	0.323								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				62	122					0	0	1	0	0	G	45639925	T	G	45639925	2	3	15	1	0	0	0	0	0	0	0	1	5704	1596	56	5		5	FANCM	14	45639925	Silent	SNP	T	TCGA-CH-5754-01A-11D-1576-08	663742	45639925	61709615	73	765											
PCNX	22990	broad.mit.edu	37	chr14	71514563	71514563	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgttgctggtttgaagttGctacgatcctcttttagcag	7	16	10	8	1	1	1	0	1	1	0	2	2	2	1	1	1	4	6	1	1	3	6			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr14:71514563G>A	ENST00000304743.2	+	22	4646	c.4200G>A	c.(4198-4200)ttG>ttA	p.L1400L	PCNX_ENST00000238570.5_Silent_p.L1400L|PCNX_ENST00000439984.3_Silent_p.L1289L	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1400						integral to membrane		p.L1400L(1)		NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GTTTGAAGTTGCTACGATCCT	0.373													46	233					0	0	1	0	0	A	71514563	G	A	71514563	2	1	15	1	0	0	0	0	0	0	0	1	11638	1310	46	2		2	PCNX	14	71514563	Silent	SNP	G	TCGA-CH-5754-01A-11D-1576-08	25874638	71514563	35834977	74	766											
ZNF410	57862	broad.mit.edu	37	chr14	74370665	74370665	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatgtgactctgttacaggaGaaaatgtccaccttggttct	10	14	9	8	0	2	2	0	1	2	1	3	3	3	2	2	2	1	2	2	2	4	4			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr14:74370665G>A	ENST00000555044.1	+	6	777	c.583G>A	c.(583-585)Gaa>Aaa	p.E195K	ZNF410_ENST00000540593.1_Missense_Mutation_p.E122K|ZNF410_ENST00000442160.3_Missense_Mutation_p.E212K|ZNF410_ENST00000412490.3_3'UTR|RP5-1021I20.5_ENST00000554009.1_RNA|ZNF410_ENST00000334521.4_Missense_Mutation_p.E142K|ZNF410_ENST00000324593.6_Missense_Mutation_p.E195K	NM_001242928.1|NM_021188.2	NP_001229857.1|NP_067011.1	Q86VK4	ZN410_HUMAN	zinc finger protein 410	195					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E195K(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.00369)		TGTTACAGGAGAAAATGTCCA	0.428													39	105					0	0	1	0	0	A	74370665	G	A	74370665	3	1	15	1	0	0	0	0	1	0	0	0	17947	943	33	2	601	2	ZNF410	14	74370665	Missense_Mutation	SNP	G	TCGA-CH-5754-01A-11D-1576-08	2856102	74370665	32978875	75	767											
C14orf166B	145497	broad.mit.edu	37	chr14	77294750	77294750	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagaattcggaaacagacCtggagattgaaggcgagcat	14	6	15	6	2	0	4	0	1	0	3	1	8	0	5	1	4	2	1	1	4	3	2			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr14:77294750C>A	ENST00000393774.3	+	2	329	c.205C>A	c.(205-207)Ctg>Atg	p.L69M	C14orf166B_ENST00000460005.1_3'UTR|C14orf166B_ENST00000450042.2_Missense_Mutation_p.L52M|C14orf166B_ENST00000216453.5_Missense_Mutation_p.L26M	NM_194287.2	NP_919263.2	Q0VAA2	CN16B_HUMAN	chromosome 14 open reading frame 166B	69								p.L69M(1)		breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		GGAAACAGACCTGGAGATTGA	0.532													27	89					1.7881e-09	1.88904e-09	1	1	0	A	77294750	C	A	77294750	3	1	15	1	0	0	0	0	1	0	0	0	1763	680	24	4	211	4	C14orf166B	14	77294750	Missense_Mutation	SNP	C	TCGA-CH-5754-01A-11D-1576-08	2924085	77294750	30054790	76	768											
AQR	9716	broad.mit.edu	37	chr15	35185937	35185937	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttggatatgatctgaactGccacatctgttttgcctgta	8	16	9	8	0	2	2	0	2	2	0	2	3	2	3	2	1	3	3	2	1	3	5			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr15:35185937G>A	ENST00000156471.5	-	23	2723	c.2498C>T	c.(2497-2499)gCa>gTa	p.A833V		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	833						catalytic step 2 spliceosome	RNA binding	p.A833V(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		GATCTGAACTGCCACATCTGT	0.413													70	144					0	0	1	0	0	A	35185937	G	A	35185937	3	1	15	1	0	0	0	0	1	0	0	0	832	1319	46	2	2011	2	AQR	15	35185937	Missense_Mutation	SNP	G	TCGA-CH-5754-01A-11D-1576-08		35185937	67345455	77	769											
AQR	9716	broad.mit.edu	37	chr15	35185966	35185966	+	Silent	SNP	G	G	C																															gttttgcctgtaccaggtggGcccacaacctaaaaagaaga																										TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr15:35185966G>C	ENST00000156471.5	-	23	2694	c.2469C>G	c.(2467-2469)ggC>ggG	p.G823G		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	823						catalytic step 2 spliceosome	RNA binding	p.G823G(2)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		TACCAGGTGGGCCCACAACCT	0.398													42	123					0	0	1	0	0	C	35185966	G	C	35185966	2	2	15	1	0	0	0	0	0	0	0	1	832	1190	42	4		4	AQR	15	35185966	Silent	SNP	G	TCGA-CH-5754-01A-11D-1576-08	29	35185966	67345426	78	770	4	2									
AQR	9716	broad.mit.edu	37	chr15	35185970	35185970	+	Missense_Mutation	SNP	A	A	C																															tgcctgtaccaggtgggcccAcaacctaaaaagaagatgaa																										TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr15:35185970A>C	ENST00000156471.5	-	23	2690	c.2465T>G	c.(2464-2466)gTg>gGg	p.V822G		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	822						catalytic step 2 spliceosome	RNA binding	p.V822G(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		AGGTGGGCCCACAACCTAAAA	0.393													41	123					0	0	1	0	0	C	35185970	A	C	35185970	3	2	15	1	0	0	0	0	1	0	0	0	832	159	6	5	2044	5	AQR	15	35185970	Missense_Mutation	SNP	A	TCGA-CH-5754-01A-11D-1576-08	4	35185970	67345422	79	771	4	2									
TTBK2	146057	broad.mit.edu	37	chr15	43044437	43044437	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtagctagtttctcctctaGcaatttatcagaggcacttg	10	14	8	9	0	3	1	1	0	2	1	4	1	3	1	1	1	2	5	1	1	5	7			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr15:43044437G>C	ENST00000267890.6	-	14	3115	c.3007C>G	c.(3007-3009)Cta>Gta	p.L1003V		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	1003					cell death		ATP binding|protein serine/threonine kinase activity	p.L1003V(1)		NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		TTCTCCTCTAGCAATTTATCA	0.468													13	150					0	0	1	0	0	C	43044437	G	C	43044437	3	2	15	1	0	0	0	0	1	0	0	0	16739	962	34	4	735	4	TTBK2	15	43044437	Missense_Mutation	SNP	G	TCGA-CH-5754-01A-11D-1576-08	7858467	43044437	59486955	80	772											
UNC13C	440279	broad.mit.edu	37	chr15	54305247	54305247	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacttccccactgctggccaGaccaaatcccccaaattttc	10	9	5	17	0	0	1	0	0	0	1	3	2	2	1	6	1	1	1	6	1	2	3			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr15:54305247G>T	ENST00000545554.1	+	1	147	c.147G>T	c.(145-147)caG>caT	p.Q49H	UNC13C_ENST00000260323.11_Missense_Mutation_p.Q49H|UNC13C_ENST00000537900.1_Missense_Mutation_p.Q49H			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	49					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.Q49H(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CTGCTGGCCAGACCAAATCCC	0.398													43	82					2.13384e-23	2.31019e-23	1	1	0	T	54305247	G	T	54305247	3	4	15	1	0	0	0	0	1	0	0	0	17046	933	33	4	149	4	UNC13C	15	54305247	Missense_Mutation	SNP	G	TCGA-CH-5754-01A-11D-1576-08	11260810	54305247	48226145	81	773											
IGDCC3	9543	broad.mit.edu	37	chr15	65623027	65623027	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggccaaggctcccacagcagCtgcaaggaggagctgcccag	10	3	14	14	0	0	0	0	0	0	0	1	2	1	2	3	4	5	5	3	4	2	0			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr15:65623027C>G	ENST00000327987.4	-	10	1865	c.1614G>C	c.(1612-1614)caG>caC	p.Q538H		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	538	Fibronectin type-III 2.							p.Q538H(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CCCACAGCAGCTGCAAGGAGG	0.657													9	22					0	0	1	0	0	G	65623027	C	G	65623027	3	3	15	1	0	0	0	0	1	0	0	0	7612	796	28	4	850	4	IGDCC3	15	65623027	Missense_Mutation	SNP	C	TCGA-CH-5754-01A-11D-1576-08	11317780	65623027	36908365	82	774											
CSPG4	1464	broad.mit.edu	37	chr15	75981610	75981610	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcgctccacggggaggccaGaggaggtgccaaggacctgg	8	3	19	11	2	0	1	0	0	0	1	1	4	1	4	4	8	1	1	4	8	1	0			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr15:75981610G>C	ENST00000308508.5	-	3	1888	c.1796C>G	c.(1795-1797)tCt>tGt	p.S599C		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	599	Globular or compact configuration stabilized by disulfide bonds.|Interaction with COL6A2 (By similarity).|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	p.S599C(1)		breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GGGGAGGCCAGAGGAGGTGCC	0.672													8	54					0	0	1	0	0	C	75981610	G	C	75981610	3	2	15	1	0	0	0	0	1	0	0	0	3985	942	33	4	5204	4	CSPG4	15	75981610	Missense_Mutation	SNP	G	TCGA-CH-5754-01A-11D-1576-08	10358583	75981610	26549782	83	775											
IQGAP1	8826	broad.mit.edu	37	chr15	91016148	91016148	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggcctgatcaccaggcTgcaggctcgctgccgtggat	7	8	14	12	2	1	2	1	2	0	0	2	3	1	3	3	4	2	4	3	4	1	0			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr15:91016148T>A	ENST00000268182.5	+	19	2379	c.2255T>A	c.(2254-2256)cTg>cAg	p.L752Q	IQGAP1_ENST00000560738.1_Missense_Mutation_p.L180Q	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	752	IQ 1.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity	p.L752Q(1)		breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			ATCACCAGGCTGCAGGCTCGC	0.498													63	123					0	0	1	0	0	A	91016148	T	A	91016148	3	1	15	1	0	0	0	0	1	0	0	0	7858	1580	55	5	2329	5	IQGAP1	15	91016148	Missense_Mutation	SNP	T	TCGA-CH-5754-01A-11D-1576-08	15034538	91016148	11515244	84	776											
MAPK8IP3	23162	broad.mit.edu	37	chr16	1816093	1816093	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacccgctgcaacgtgccgcGgagcaactgctcctcccgag	7	5	11	18	5	0	0	0	0	0	0	2	2	2	1	4	1	6	4	4	1	2	0			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr16:1816093G>A	ENST00000250894.4	+	21	2733	c.2576G>A	c.(2575-2577)cGg>cAg	p.R859Q	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.R853Q	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	859					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding	p.R859Q(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						AACGTGCCGCGGAGCAACTGC	0.662													6	55					0	0	1	0	0	A	1816093	G	A	1816093	3	1	15	1	0	0	0	0	1	0	0	0	9336	1116	39	1	2674	1	MAPK8IP3	16	1816093	Missense_Mutation	SNP	G	TCGA-CH-5754-01A-11D-1576-08		1816093	88538660	85	777											
SLC5A2	6524	broad.mit.edu	37	chr16	31498984	31498984	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgaccccggcccgactcctaCcacctgctccggcaccccgt	5	5	8	23	5	0	0	0	0	0	0	2	2	2	0	9	2	2	2	9	2	1	1			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr16:31498984C>G	ENST00000330498.3	+	7	808	c.789C>G	c.(787-789)taC>taG	p.Y263*	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	263					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity	p.Y263*(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						CCGACTCCTACCACCTGCTCC	0.652													10	89					0	0	1	0	0	G	31498984	C	G	31498984	4	3	15	1	0	0	0	0	0	1	0	0	14720	518	18	4	815	4	SLC5A2	16	31498984	Nonsense_Mutation	SNP	C	TCGA-CH-5754-01A-11D-1576-08	29682891	31498984	58855769	86	778											
LRRC36	55282	broad.mit.edu	37	chr16	67405081	67405081	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcgaagagaggattcaaatGgaaggacaatatccttgcca	16	8	10	7	1	1	1	1	0	0	1	3	6	2	4	2	3	1	0	2	3	5	3			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr16:67405081G>C	ENST00000329956.6	+	9	1449	c.1430G>C	c.(1429-1431)tGg>tCg	p.W477S	LRRC36_ENST00000563189.1_Missense_Mutation_p.W356S|LRRC36_ENST00000541146.1_Start_Codon_SNP_p.M1I|LRRC36_ENST00000290940.7_Missense_Mutation_p.W209S|LRRC36_ENST00000435835.3_Missense_Mutation_p.W356S	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	477								p.W477S(1)		endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		GGATTCAAATGGAAGGACAAT	0.463													25	238					0	0	1	0	0	C	67405081	G	C	67405081	3	2	15	1	0	0	0	0	1	0	0	0	9035	1357	47	4	1492	4	LRRC36	16	67405081	Missense_Mutation	SNP	G	TCGA-CH-5754-01A-11D-1576-08	35906097	67405081	22949672	87	779											
HYDIN	54768	broad.mit.edu	37	chr16	70867982	70867982	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcagagaagggagggacaCgcttcttcggggcaaagatg	11	6	15	9	2	2	2	1	0	1	2	3	5	2	4	1	4	0	2	1	4	2	2			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr16:70867982C>G	ENST00000393567.2	-	79	13637	c.13487G>C	c.(13486-13488)cGt>cCt	p.R4496P		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4496								p.R4447P(1)|p.R4495P(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GGGAGGGACACGCTTCTTCGG	0.552													32	35					0	0	1	0	0	G	70867982	C	G	70867982	3	3	15	1	0	0	0	0	1	0	0	0	7511	536	19	4	1910	4	HYDIN	16	70867982	Missense_Mutation	SNP	C	TCGA-CH-5754-01A-11D-1576-08	3462901	70867982	19486771	88	780											
ADAD2	161931	broad.mit.edu	37	chr16	84229837	84229837	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctccctacgtccggaccGccctgcacctgtttgcaggg	5	8	10	18	3	0	0	0	0	0	0	2	1	2	1	6	2	3	3	6	2	1	2			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr16:84229837G>A	ENST00000268624.3	+	9	1726	c.1633G>A	c.(1633-1635)Gcc>Acc	p.A545T	RP11-486L19.2_ENST00000536986.1_RNA|ADAD2_ENST00000315906.5_Missense_Mutation_p.A463T|RP11-486L19.2_ENST00000569834.1_RNA|RP11-486L19.2_ENST00000565643.1_RNA	NM_139174.3	NP_631913.3	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	463	A to I editase.				RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding	p.A545T(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						CGTCCGGACCGCCCTGCACCT	0.697													71	94					0	0	1	0	0	A	84229837	G	A	84229837	3	1	15	1	0	0	0	0	1	0	0	0	231	1087	38	1	1667	1	ADAD2	16	84229837	Missense_Mutation	SNP	G	TCGA-CH-5754-01A-11D-1576-08	13361855	84229837	6124916	89	781											
BCL6B	255877	broad.mit.edu	37	chr17	6930071	6930071	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcggagcccgttttaaccggCcagcaaacctgaaaacgcac	12	5	10	14	4	0	1	0	1	0	0	0	2	0	2	4	2	5	3	4	2	4	2			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr17:6930071C>G	ENST00000293805.5	+	7	1194	c.1102C>G	c.(1102-1104)Cca>Gca	p.P368A		NM_181844.3	NP_862827.1	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	368						nucleus	zinc ion binding	p.P368A(2)		skin(1)	1						TTTTAACCGGCCAGCAAACCT	0.577													8	103					0	0	1	0	0	G	6930071	C	G	6930071	3	3	15	1	0	0	0	0	1	0	0	0	1375	739	26	4	1124	4	BCL6B	17	6930071	Missense_Mutation	SNP	C	TCGA-CH-5754-01A-11D-1576-08		6930071	74265139	90	782											
FOXN1	8456	broad.mit.edu	37	chr17	26851603	26851603	+	Missense_Mutation	SNP	G	G	A																															actgcccccacacagcccccGcattgcgtcaccagggcccg																										TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr17:26851603G>A	ENST00000226247.2	+	2	235	c.206G>A	c.(205-207)cGc>cAc	p.R69H	FOXN1_ENST00000579795.1_Missense_Mutation_p.R69H	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	69			R -> C (in dbSNP:rs2071587).		defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.R69H(2)		endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					CACAGCCCCCGCATTGCGTCA	0.647													51	111					0	0	1	0	0	A	26851603	G	A	26851603	3	1	15	1	0	0	0	0	1	0	0	0	6053	1087	38	1	212	1	FOXN1	17	26851603	Missense_Mutation	SNP	G	TCGA-CH-5754-01A-11D-1576-08	19921532	26851603	54343607	91	783	5	2									
FOXN1	8456	broad.mit.edu	37	chr17	26851604	26851604	+	Silent	SNP	C	C	T																															ctgcccccacacagcccccgCattgcgtcaccagggcccga																										TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr17:26851604C>T	ENST00000226247.2	+	2	236	c.207C>T	c.(205-207)cgC>cgT	p.R69R	FOXN1_ENST00000579795.1_Silent_p.R69R	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	69			R -> C (in dbSNP:rs2071587).		defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.R69R(1)		endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					ACAGCCCCCGCATTGCGTCAC	0.652													51	107					0	0	1	0	0	T	26851604	C	T	26851604	2	4	15	1	0	0	0	0	0	0	0	1	6053	697	25	2		2	FOXN1	17	26851604	Silent	SNP	C	TCGA-CH-5754-01A-11D-1576-08	1	26851604	54343606	92	784	5	2									
GAS2L2	246176	broad.mit.edu	37	chr17	34072056	34072056	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcccctcccttgctgccCagcacagctctcaacagcct	6	8	6	21	0	1	0	1	0	1	0	4	0	3	0	6	0	6	3	6	0	1	1			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr17:34072056C>A	ENST00000254466.6	-	6	2487	c.2460G>T	c.(2458-2460)ctG>ctT	p.L820L	GAS2L2_ENST00000587565.1_Silent_p.L804L	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	820					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCTTGCTGCCCAGCACAGCTC	0.622													5	232					1.23904e-05	1.26808e-05	1	1	0	A	34072056	C	A	34072056	2	1	15	1	0	0	0	0	0	0	0	1	6287	581	21	4		4	GAS2L2	17	34072056	Silent	SNP	C	TCGA-CH-5754-01A-11D-1576-08	7220452	34072056	47123154	93	785											
CSF3	1440	broad.mit.edu	37	chr17	38172080	38172080	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagatccagggcgatggcgcAgcgctccaggagaagctggt	10	5	16	10	3	0	2	0	0	0	2	2	4	2	2	2	4	2	3	2	4	2	0			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr17:38172080A>G	ENST00000331769.2	+	1	381	c.165A>G	c.(163-165)gcA>gcG	p.A55A	CSF3_ENST00000577675.1_Silent_p.A55A|CSF3_ENST00000394149.3_Silent_p.A59A|CSF3_ENST00000225474.2_Silent_p.A59A|CSF3_ENST00000394148.3_Silent_p.A59A			P09919	CSF3_HUMAN	colony stimulating factor 3 (granulocyte)	59					cytokine-mediated signaling pathway|granulocyte differentiation|immune response|positive regulation of cell proliferation	extracellular space	cytokine activity|enzyme binding|granulocyte colony-stimulating factor receptor binding|growth factor activity	p.A55A(1)		endometrium(1)|ovary(1)|prostate(1)	3	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GCGATGGCGCAGCGCTCCAGG	0.642													5	42					0	0	1	0	0	G	38172080	A	G	38172080	2	3	15	1	0	0	0	0	0	0	0	1	3961	175	7	3		3	CSF3	17	38172080	Silent	SNP	A	TCGA-CH-5754-01A-11D-1576-08	4100024	38172080	43023130	94	786											
ACTG1	71	broad.mit.edu	37	chr17	79478427	79478427	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtggtggtgaagctgtagcCtcgctcagtgaggatcttca	7	11	14	9	2	3	2	2	2	1	0	4	3	3	3	1	3	2	3	1	3	2	2			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr17:79478427C>T	ENST00000575842.1	-	3	1015	c.589G>A	c.(589-591)Ggc>Agc	p.G197S	ACTG1_ENST00000573283.1_Missense_Mutation_p.G197S|ACTG1_ENST00000331925.2_Missense_Mutation_p.G197S|ACTG1_ENST00000575087.1_Missense_Mutation_p.G197S			P63261	ACTG_HUMAN	actin, gamma 1	197					adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding	p.G197S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			AAGCTGTAGCCTCGCTCAGTG	0.642													39	86					0	0	1	0	0	T	79478427	C	T	79478427	3	4	15	1	0	0	0	0	1	0	0	0	196	681	24	2	550	2	ACTG1	17	79478427	Missense_Mutation	SNP	C	TCGA-CH-5754-01A-11D-1576-08	41306347	79478427	1716783	95	787											
SALL3	27164	broad.mit.edu	37	chr18	76754200	76754200	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcaaagccgcccctgcgcGtgcagcactcctgccccatc	6	6	10	19	3	0	0	0	0	0	0	2	0	1	0	6	0	6	3	6	0	1	0	rs147654064		TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr18:76754200G>A	ENST00000536229.3	+	1	2519	c.1810G>A	c.(1810-1812)Gtg>Atg	p.V604M	SALL3_ENST00000537592.2_Missense_Mutation_p.V737M|SALL3_ENST00000575389.2_Missense_Mutation_p.V737M			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	737					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V737M(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GCCCCTGCGCGTGCAGCACTC	0.652													28	21					0	0	1	0	0	A	76754200	G	A	76754200	3	1	15	1	0	0	0	0	1	0	0	0	13864	1145	40	1	2215	1	SALL3	18	76754200	Missense_Mutation	SNP	G	TCGA-CH-5754-01A-11D-1576-08		76754200	1323048	96	788											
MUC16	94025	broad.mit.edu	37	chr19	9071591	9071591	+	Silent	SNP	G	G	T																															agtgtggttgatgtgtccaaGggaagggtactgtgcgatgc																										TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr19:9071591G>T	ENST00000397910.4	-	3	16058	c.15855C>A	c.(15853-15855)ccC>ccA	p.P5285P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5287	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P5285P(2)|p.P918P(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATGTGTCCAAGGGAAGGGTAC	0.522													43	118					2.58029e-29	2.93928e-29	1	1	0	T	9071591	G	T	9071591	2	4	15	1	0	0	0	0	0	0	0	1	10021	987	35	4		4	MUC16	19	9071591	Silent	SNP	G	TCGA-CH-5754-01A-11D-1576-08		9071591	50057392	97	789	6	2									
MUC16	94025	broad.mit.edu	37	chr19	9071592	9071592	+	Missense_Mutation	SNP	G	G	T																															gtgtggttgatgtgtccaagGgaagggtactgtgcgatgca																										TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr19:9071592G>T	ENST00000397910.4	-	3	16057	c.15854C>A	c.(15853-15855)cCc>cAc	p.P5285H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5287	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P5285H(2)|p.P918H(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTGTCCAAGGGAAGGGTACT	0.517													44	117					4.14194e-30	4.80171e-30	1	1	0	T	9071592	G	T	9071592	3	4	15	1	0	0	0	0	1	0	0	0	10021	1232	43	4	27997	4	MUC16	19	9071592	Missense_Mutation	SNP	G	TCGA-CH-5754-01A-11D-1576-08	1	9071592	50057391	98	790	6	2									
ZNF536	9745	broad.mit.edu	37	chr19	30935327	30935327	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagggcaagttcaagaagcgCgaggagctggaccgccacat	13	4	14	10	3	1	1	1	0	0	1	1	4	1	3	2	3	2	3	2	3	4	1			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr19:30935327C>T	ENST00000355537.3	+	2	1005	c.858C>T	c.(856-858)cgC>cgT	p.R286R		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	286					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.R286R(2)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TCAAGAAGCGCGAGGAGCTGG	0.662													34	75					0	0	1	0	0	T	30935327	C	T	30935327	2	4	15	1	0	0	0	0	0	0	0	1	18031	755	27	1		1	ZNF536	19	30935327	Silent	SNP	C	TCGA-CH-5754-01A-11D-1576-08	21863735	30935327	28193656	99	791											
ERCC2	2068	broad.mit.edu	37	chr19	45858935	45858935	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcataccaatatcctcccGggtctcaaatttggagctga	11	10	8	12	1	1	1	1	1	1	0	4	2	3	2	3	2	3	2	3	2	4	3			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr19:45858935G>A	ENST00000391945.4	-	16	1608	c.1531C>T	c.(1531-1533)Cgg>Tgg	p.R511W	ERCC2_ENST00000391944.3_Missense_Mutation_p.R433W	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	511	Mediates interaction with MMS19.		R -> Q (in XP-D).		cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding	p.R511W(1)		large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		ATATCCTCCCGGGTCTCAAAT	0.547			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				22	63					0	0	1	0	0	A	45858935	G	A	45858935	3	1	15	1	0	0	0	0	1	0	0	0	5241	1115	39	1	783	1	ERCC2	19	45858935	Missense_Mutation	SNP	G	TCGA-CH-5754-01A-11D-1576-08	14923608	45858935	13270048	100	792											
NTN5	126147	broad.mit.edu	37	chr19	49165010	49165010	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgctcctcctgctgcagcCgcttcaggggccgggcccag	3	6	14	18	4	1	0	1	0	0	0	3	0	3	0	5	3	3	4	5	3	0	1			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr19:49165010C>T	ENST00000270235.4	-	7	1489	c.1394G>A	c.(1393-1395)cGg>cAg	p.R465Q	SEC1P_ENST00000430145.2_RNA	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN	netrin 5	465	NTR.					extracellular region		p.R465Q(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						CTGCTGCAGCCGCTTCAGGGG	0.766													2	1					0	0	1	0	0	T	49165010	C	T	49165010	3	4	15	1	0	0	0	0	1	0	0	0	10751	652	23	1	79	1	NTN5	19	49165010	Missense_Mutation	SNP	C	TCGA-CH-5754-01A-11D-1576-08	3306075	49165010	9963973	101	793											
FAM71E1	112703	broad.mit.edu	37	chr19	50979132	50979132	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atggggaagtcccgaaactgGtcgaattcgccgctctggag	9	8	14	10	4	1	0	0	0	1	0	4	4	2	2	2	4	1	1	2	4	3	1			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr19:50979132G>A	ENST00000600100.1	-	2	682	c.318C>T	c.(316-318)gaC>gaT	p.D106D	FAM71E1_ENST00000595790.1_Silent_p.D106D			Q6IPT2	F71E1_HUMAN	family with sequence similarity 71, member E1	106								p.D106D(1)		breast(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026)		CCCGAAACTGGTCGAATTCGC	0.627													12	48					0	0	1	0	0	A	50979132	G	A	50979132	2	1	15	1	0	0	0	0	0	0	0	1	5646	1252	44	2		2	FAM71E1	19	50979132	Silent	SNP	G	TCGA-CH-5754-01A-11D-1576-08	1814122	50979132	8149851	102	794											
KLK1	3816	broad.mit.edu	37	chr19	51322517	51322527	+	Frame_Shift_Del	DEL	GGCTTATTGGG	GGCTTATTGGG	-																															gcactctgacggcgacagaaGgcttattgggggtgccacaa																										TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr19:51322517_51322527delGGCTTATTGGG	ENST00000448701.2	-	6	1730_1740	c.406_416delCCCAATAAGCC	c.(406-417)tfs	p.PNKP136fs	KLK1_ENST00000301420.2_Frame_Shift_Del_p.PNKP238fs			P06870	KLK1_HUMAN	kallikrein 1	238	Peptidase S1.				proteolysis	nucleus	serine-type endopeptidase activity			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGCGACAGAAGGCTTATTGGGGGTGCCACAA	0.583													13	147	---	---	---	---						-	51322527	GGCTTATTGGG	-	51322517	7	5	15	1	0	1	0	1	0	0	0	0	8440	1000	35	0	70	0	KLK1	19	51322517	Frame_Shift_Del	DEL	GGCTTATTGGG	TCGA-CH-5754-01A-11D-1576-08	343385	51322517	7806466	103	795											
ZNF432	9668	broad.mit.edu	37	chr19	52538071	52538071	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cattcattgcatatgtagggTttctctccagtatgagttcg	8	16	9	8	1	2	1	1	1	1	0	5	1	3	1	1	1	1	5	1	1	3	7			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr19:52538071T>A	ENST00000594154.1	-	5	1073	c.861A>T	c.(859-861)aaA>aaT	p.K287N	ZNF432_ENST00000221315.5_Missense_Mutation_p.K287N			O94892	ZN432_HUMAN	zinc finger protein 432	287					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K287N(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		ATATGTAGGGTTTCTCTCCAG	0.388													48	225					0	0	1	0	0	A	52538071	T	A	52538071	3	1	15	1	0	0	0	0	1	0	0	0	17963	1722	60	5	1101	5	ZNF432	19	52538071	Missense_Mutation	SNP	T	TCGA-CH-5754-01A-11D-1576-08	1215554	52538071	6590912	104	796											
BANF2	140836	broad.mit.edu	37	chr20	17716422	17716422	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggcccagcagacttctcActgcctcaaggagtggtgtg	8	9	13	11	0	2	2	2	1	1	1	3	3	2	3	2	3	2	1	2	3	1	1			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr20:17716422A>C	ENST00000246090.5	+	4	501	c.239A>C	c.(238-240)cAc>cCc	p.H80P	BANF2_ENST00000377805.3_Missense_Mutation_p.H80P|BANF2_ENST00000545418.2_Missense_Mutation_p.H87P|BANF2_ENST00000467330.1_3'UTR	NM_178477.4	NP_848572.3	Q9H503	BAFL_HUMAN	barrier to autointegration factor 2	80						cytoplasm|nucleus	DNA binding	p.H80P(1)		large_intestine(1)|lung(1)|prostate(3)|skin(1)	6						CAGACTTCTCACTGCCTCAAG	0.542													37	86					0	0	1	0	0	C	17716422	A	C	17716422	3	2	15	1	0	0	0	0	1	0	0	0	1306	159	6	5	270	5	BANF2	20	17716422	Missense_Mutation	SNP	A	TCGA-CH-5754-01A-11D-1576-08		17716422	45309098	105	797											
SLC35C2	51006	broad.mit.edu	37	chr20	44979077	44979077	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtactcctcctcctcattgtCaccttcctcccgctggctgc	3	13	6	19	1	2	0	2	0	0	0	7	0	7	0	6	1	2	3	6	1	1	3			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr20:44979077C>A	ENST00000372227.1	-	10	1594	c.1054G>T	c.(1054-1056)Gac>Tac	p.D352Y	SLC35C2_ENST00000317734.8_Missense_Mutation_p.D331Y|SLC35C2_ENST00000243896.2_Missense_Mutation_p.D352Y|SLC35C2_ENST00000543605.1_Missense_Mutation_p.D381Y|SLC35C2_ENST00000372229.1_Missense_Mutation_p.D219Y|SLC35C2_ENST00000493599.1_5'UTR|SLC35C2_ENST00000372230.5_Missense_Mutation_p.D352Y			Q9NQQ7	S35C2_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C2	352					transport	integral to membrane		p.D352Y(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	16		Myeloproliferative disorder(115;0.0122)				TCCTCATTGTCACCTTCCTCC	0.642													33	135					1.03484e-13	1.10214e-13	1	1	0	A	44979077	C	A	44979077	3	1	15	1	0	0	0	0	1	0	0	0	14635	826	29	4	47	4	SLC35C2	20	44979077	Missense_Mutation	SNP	C	TCGA-CH-5754-01A-11D-1576-08	27262655	44979077	18046443	106	798											
TPTE	7179	broad.mit.edu	37	chr21	10921956	10921956	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgcagttgaacatatttcaGaggcaataaggaaggcacaa	16	9	10	6	0	1	2	1	1	0	1	1	3	1	3	0	3	2	4	0	3	6	5			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr21:10921956G>C	ENST00000298232.7	-	17	1380	c.1013C>G	c.(1012-1014)tCt>tGt	p.S338C	TPTE_ENST00000342420.5_Missense_Mutation_p.S318C|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.S356C	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	356	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.S338Y(1)|p.S356Y(1)|p.S338C(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			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)		ACATATTTCAGAGGCAATAAG	0.343													28	170					0	0	1	0	0	C	10921956	G	C	10921956	3	2	15	1	0	0	0	0	1	0	0	0	16491	942	33	4	616	4	TPTE	21	10921956	Missense_Mutation	SNP	G	TCGA-CH-5754-01A-11D-1576-08		10921956	37207939	107	799											
RIMBP3	85376	broad.mit.edu	37	chr22	20458475	20458475	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgaccatctggcacagccCtctgtccaccactccctggg	6	8	8	19	0	2	1	0	1	2	0	4	1	4	1	6	2	1	1	6	2	0	0			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr22:20458475C>T	ENST00000426804.1	-	1	3311	c.2827G>A	c.(2827-2829)Ggg>Agg	p.G943R		NM_015672.1	NP_056487.1			RIMS binding protein 3									p.G943R(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			TGGCACAGCCCTCTGTCCACC	0.577													19	84					0	0	1	0	0	T	20458475	C	T	20458475	3	4	15	1	0	0	0	0	1	0	0	0	13414	681	24	2	2096	2	RIMBP3	22	20458475	Missense_Mutation	SNP	C	TCGA-CH-5754-01A-11D-1576-08		20458475	30846091	108	800											
SGSM1	129049	broad.mit.edu	37	chr22	25246361	25246381	+	In_Frame_Del	DEL	CCTGGACAAAATTGTGCATTA	CCTGGACAAAATTGTGCATTA	-																															acagccttgtttgagaaggtCctggacaaaattgtgcatta																										TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr22:25246361_25246381delCCTGGACAAAATTGTGCATTA	ENST00000400358.4	+	5	474_494	c.417_437delCCTGGACAAAATTGTGCATTA	c.(415-438)gtc>gt	p.VLDKIVHY139del	SGSM1_ENST00000400359.4_In_Frame_Del_p.VLDKIVHY139del	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	139	RUN.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						TTGAGAAGGTCCTGGACAAAATTGTGCATTACCTTGTGGAA	0.557											OREG0026418	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	36	---	---	---	---						-	25246381	CCTGGACAAAATTGTGCATTA	-	25246361	7	5	15	1	0	1	0	1	0	0	0	0	14276	842	30	0	435	0	SGSM1	22	25246361	In_Frame_Del	DEL	CCTGGACAAAATTGTGCATTA	TCGA-CH-5754-01A-11D-1576-08	4787886	25246361	26058205	109	801											
PKDREJ	10343	broad.mit.edu	37	chr22	46658215	46658215	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccaagcatcaccgcctgcagGgaactcctgacgatccagac	11	5	9	16	2	1	2	1	1	0	1	3	4	3	3	5	1	3	2	5	1	2	0			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chr22:46658215G>T	ENST00000253255.5	-	1	1004	c.1005C>A	c.(1003-1005)tcC>tcA	p.S335S		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	335	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	p.S335S(1)		NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CCGCCTGCAGGGAACTCCTGA	0.552													50	196					3.28156e-27	3.64308e-27	1	1	0	T	46658215	G	T	46658215	2	4	15	1	0	0	0	0	0	0	0	1	12018	1219	43	4		4	PKDREJ	22	46658215	Silent	SNP	G	TCGA-CH-5754-01A-11D-1576-08	21411854	46658215	4646351	110	802											
RBM10	8241	broad.mit.edu	37	chrX	47039694	47039694	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accatcaatgttgagtttgcCaagggttctaagaggtcagg	11	11	12	7	0	3	2	2	1	1	1	3	2	3	2	2	3	1	3	2	3	3	4			TCGA-CH-5754-01A-11D-1576-08	TCGA-CH-5754-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee88d86f-4fbf-43b7-ad6b-aeebad71c27a	479abe86-78d2-4955-b8f3-03be4c2709c5	g.chrX:47039694C>G	ENST00000377604.3	+	11	1888	c.1146C>G	c.(1144-1146)gcC>gcG	p.A382A	RBM10_ENST00000345781.6_Silent_p.A305A|RBM10_ENST00000468791.1_Intron|RBM10_ENST00000329236.7_Silent_p.A304A	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	382	RRM 2.				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	p.A382A(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						TTGAGTTTGCCAAGGGTTCTA	0.632													17	9					0	0	1	0	0	G	47039694	C	G	47039694	2	3	15	1	0	0	0	0	0	0	0	1	13163	581	21	4		4	RBM10	23	47039694	Silent	SNP	C	TCGA-CH-5754-01A-11D-1576-08		47039694	108230866	111	803											
EFCAB7	84455	broad.mit.edu	37	chr1	63999825	63999825	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaaacatctgtttccttcAcagttaccatgggggctaat	11	13	7	10	0	3	0	2	0	1	0	4	0	4	0	2	2	2	3	2	2	4	4			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr1:63999825A>C	ENST00000371088.4	+	6	988	c.742A>C	c.(742-744)Aca>Cca	p.T248P		NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	248			T -> I (in dbSNP:rs6693255).				calcium ion binding	p.T248P(1)		breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						TGTTTCCTTCACAGTTACCAT	0.358													64	121					0	0	0.870114	0	0	C	63999825	A	C	63999825	3	2	16	1	0	0	0	0	1	0	0	0	4966	159	6	5	760	5	EFCAB7	1	63999825	Missense_Mutation	SNP	A	TCGA-CH-5761-01A-11D-1576-08		63999825	185250796	1	804											
DPYD	1806	broad.mit.edu	37	chr1	97564128	97564128	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttgttctttcagtctaaTcttgttttctgctatgattt	6	24	5	6	0	5	1	1	1	4	0	5	1	5	1	0	0	1	3	0	0	2	10			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr1:97564128T>C	ENST00000370192.3	-	21	2783	c.2683A>G	c.(2683-2685)Att>Gtt	p.I895V	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	895					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	p.I895V(2)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TTCAGTCTAATCTTGTTTTCT	0.363													68	131					0	0	0.870114	0	0	C	97564128	T	C	97564128	3	2	16	1	0	0	0	0	1	0	0	0	4771	1435	50	3	406	3	DPYD	1	97564128	Missense_Mutation	SNP	T	TCGA-CH-5761-01A-11D-1576-08	33564303	97564128	151686493	2	805											
TSPAN2	10100	broad.mit.edu	37	chr1	115601593	115601593	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatacatggtctgaacatGtcggatagcctgaagaaata	14	11	9	7	1	2	3	1	2	1	1	3	4	2	4	1	2	3	0	1	2	6	4			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr1:115601593G>T	ENST00000369516.2	-	5	386	c.355C>A	c.(355-357)Cat>Aat	p.H119N	TSPAN2_ENST00000369514.2_Missense_Mutation_p.H119N|TSPAN2_ENST00000369515.2_Missense_Mutation_p.H94N	NM_005725.4	NP_005716.2	O60636	TSN2_HUMAN	tetraspanin 2	119						integral to membrane		p.H119N(1)		central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1)	10	Lung SC(450;0.211)	all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		GTCTGAACATGTCGGATAGCC	0.418													6	325					3.59834e-05	4.13602e-05	0.217242	1	0	T	115601593	G	T	115601593	3	4	16	1	0	0	0	0	1	0	0	0	16705	1377	48	4	326	4	TSPAN2	1	115601593	Missense_Mutation	SNP	G	TCGA-CH-5761-01A-11D-1576-08	18037465	115601593	133649028	3	806											
CHD1L	9557	broad.mit.edu	37	chr1	146731533	146731533	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggatgaagctcacaggttGaaaaaccaaagctccctgct	13	8	10	10	0	1	2	1	2	0	0	2	3	2	3	2	2	4	4	2	2	4	1			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr1:146731533G>T	ENST00000369258.4	+	6	557	c.537G>T	c.(535-537)ttG>ttT	p.L179F	CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000361293.5_5'UTR|CHD1L_ENST00000369259.3_Intron|CHD1L_ENST00000431239.1_Missense_Mutation_p.L179F	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	179	Helicase ATP-binding.				chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	p.L179F(2)		breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					CTCACAGGTTGAAAAACCAAA	0.358													152	308					2.91861e-41	3.74181e-41	0.870114	1	0	T	146731533	G	T	146731533	3	4	16	1	0	0	0	0	1	0	0	0	3346	1281	45	4	559	4	CHD1L	1	146731533	Missense_Mutation	SNP	G	TCGA-CH-5761-01A-11D-1576-08	31129940	146731533	102519088	4	807											
HMCN1	83872	broad.mit.edu	37	chr1	186077666	186077666	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacagacaagtgacattggaAtgcaagtcagatgcagtgcc	15	7	11	8	0	1	3	1	1	0	2	1	4	1	4	1	1	4	2	1	1	4	1			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr1:186077666A>C	ENST00000271588.4	+	71	11155	c.10926A>C	c.(10924-10926)gaA>gaC	p.E3642D	HMCN1_ENST00000367492.2_Missense_Mutation_p.E3642D	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3642	Ig-like C2-type 35.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGACATTGGAATGCAAGTCAG	0.423													3	139					0	0	0.115264	0	0	C	186077666	A	C	186077666	3	2	16	1	0	0	0	0	1	0	0	0	7261	98	4	5	11208	5	HMCN1	1	186077666	Missense_Mutation	SNP	A	TCGA-CH-5761-01A-11D-1576-08	39346133	186077666	63172955	5	808											
CFH	3075	broad.mit.edu	37	chr1	196658588	196658588	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagacattaaacatggaggtCtatatcatgagaatatgcgt	15	11	9	6	1	2	2	1	1	1	2	2	4	2	3	0	2	2	0	0	2	6	4			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr1:196658588C>G	ENST00000367429.4	+	8	1243	c.1003C>G	c.(1003-1005)Cta>Gta	p.L335V	CFH_ENST00000439155.2_Missense_Mutation_p.L335V|CFH_ENST00000359637.2_Missense_Mutation_p.L271V	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	335	Sushi 6.				complement activation, alternative pathway	extracellular space		p.L335V(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ACATGGAGGTCTATATCATGA	0.308													9	150					0	0	0.335167	0	0	G	196658588	C	G	196658588	3	3	16	1	0	0	0	0	1	0	0	0	3305	912	32	4	1033	4	CFH	1	196658588	Missense_Mutation	SNP	C	TCGA-CH-5761-01A-11D-1576-08	10580922	196658588	52592033	6	809											
C1orf116	79098	broad.mit.edu	37	chr1	207195634	207195634	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctcagttgaaaggtagctgCtcagtcccacgcctgagcgc	8	9	11	13	2	2	2	2	2	1	0	4	2	3	2	2	1	3	4	2	1	2	2			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr1:207195634C>A	ENST00000359470.5	-	4	1724	c.1475G>T	c.(1474-1476)aGc>aTc	p.S492I	C1orf116_ENST00000461135.2_Missense_Mutation_p.S246I	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	492						cytoplasm|plasma membrane	receptor activity	p.S492T(1)|p.S492I(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					AAGGTAGCTGCTCAGTCCCAC	0.542													3	41					0.115264	0.125287	0.115264	1	0	A	207195634	C	A	207195634	3	1	16	1	0	0	0	0	1	0	0	0	2002	797	28	4	334	4	C1orf116	1	207195634	Missense_Mutation	SNP	C	TCGA-CH-5761-01A-11D-1576-08	10537046	207195634	42054987	7	810											
CR1L	1379	broad.mit.edu	37	chr1	207867727	207867727	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggctaccccccaccatcGccaatggagatttcactagc	9	8	9	15	1	1	1	1	0	0	1	2	2	1	1	5	2	2	1	5	2	3	3			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr1:207867727G>A	ENST00000508064.2	+	5	553	c.493G>A	c.(493-495)Gcc>Acc	p.A165T	CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	165	Sushi 3.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CCCCACCATCGCCAATGGAGA	0.423													5	141					0	0	0.184627	0	0	A	207867727	G	A	207867727	3	1	16	1	0	0	0	0	1	0	0	0	3864	1087	38	1	511	1	CR1L	1	207867727	Missense_Mutation	SNP	G	TCGA-CH-5761-01A-11D-1576-08	672093	207867727	41382894	8	811											
TARBP1	6894	broad.mit.edu	37	chr1	234556448	234556448	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atataataaaaatatgatacCtggtcaagtctagggaaaag	19	10	8	4	0	2	1	1	1	1	0	2	2	2	2	1	2	1	0	1	2	11	6			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr1:234556448C>T	ENST00000040877.1	-	21	3554	c.3555_splice	c.e21+1	p.Q1185_splice		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1185					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			AATATGATACCTGGTCAAGTC	0.338													49	96					0	0	0.870114	0	0	T	234556448	C	T	234556448	5	4	16	1	0	0	0	0	0	0	1	0	15612	695	24	2	1350	2	TARBP1	1	234556448	Splice_Site	SNP	C	TCGA-CH-5761-01A-11D-1576-08	26688721	234556448	14694173	9	812											
PDIA6	10130	broad.mit.edu	37	chr2	10933278	10933278	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggcgatccttcacgagctGgcgcagagcactcagcgcag	9	5	14	13	4	2	1	2	0	0	1	3	4	3	1	1	2	3	4	1	2	0	1			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr2:10933278G>C	ENST00000404371.2	-	7	890	c.553C>G	c.(553-555)Cag>Gag	p.Q185E	PDIA6_ENST00000272227.3_Missense_Mutation_p.Q133E|PDIA6_ENST00000404824.2_Missense_Mutation_p.Q181E|PDIA6_ENST00000381611.4_Missense_Mutation_p.Q138E|PDIA6_ENST00000540494.1_Missense_Mutation_p.Q130E			Q15084	PDIA6_HUMAN	protein disulfide isomerase family A, member 6	133	Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|protein folding	endoplasmic reticulum lumen|ER-Golgi intermediate compartment|melanosome|plasma membrane	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	p.Q133E(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		TTCACGAGCTGGCGCAGAGCA	0.522													18	68					0	0	0.557998	0	0	C	10933278	G	C	10933278	3	2	16	1	0	0	0	0	1	0	0	0	11719	1357	47	4	961	4	PDIA6	2	10933278	Missense_Mutation	SNP	G	TCGA-CH-5761-01A-11D-1576-08		10933278	232266095	10	813											
RNF149	284996	broad.mit.edu	37	chr2	101924707	101924707	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgaaggtgcagcccccaCgagccaccagggcgacccag	9	3	12	17	2	0	1	0	1	0	0	0	3	0	1	6	2	3	1	6	2	1	1			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr2:101924707C>T	ENST00000295317.3	-	1	451	c.344G>A	c.(343-345)cGt>cAt	p.R115H		NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN	ring finger protein 149	115	PA.					integral to membrane	ligase activity|zinc ion binding	p.R115H(2)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						GCAGCCCCCACGAGCCACCAG	0.726													4	5					0	0	0.150653	0	0	T	101924707	C	T	101924707	3	4	16	1	0	0	0	0	1	0	0	0	13502	536	19	1	886	1	RNF149	2	101924707	Missense_Mutation	SNP	C	TCGA-CH-5761-01A-11D-1576-08	90991429	101924707	141274666	11	814											
RAB3GAP1	22930	broad.mit.edu	37	chr2	135922225	135922225	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccggtgcaggaagaggacatGctggcaggatcattcacaag	12	6	14	9	1	2	1	2	0	0	1	2	4	2	4	1	5	2	3	1	5	2	1			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr2:135922225G>A	ENST00000264158.8	+	23	2711	c.2668G>A	c.(2668-2670)Gct>Act	p.A890T	RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.A846T|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.A890T|ZRANB3_ENST00000412849.1_Intron|RAB3GAP1_ENST00000487003.1_3'UTR	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	890						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding	p.A890T(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		AAGAGGACATGCTGGCAGGAT	0.488													20	44					0	0	0.667858	0	0	A	135922225	G	A	135922225	3	1	16	1	0	0	0	0	1	0	0	0	12987	1319	46	2	2758	2	RAB3GAP1	2	135922225	Missense_Mutation	SNP	G	TCGA-CH-5761-01A-11D-1576-08	33997518	135922225	107277148	12	815											
FMNL2	114793	broad.mit.edu	37	chr2	153475624	153475624	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccgcttcctcaggacccttgCcccctcctccaccaccactg	5	8	5	23	1	1	0	1	0	0	0	4	1	4	1	9	1	1	1	9	1	0	2			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr2:153475624C>T	ENST00000288670.9	+	14	1946	c.1579C>T	c.(1579-1581)Ccc>Tcc	p.P527S		NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	527	Pro-rich.				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding	p.P527S(1)		central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						AGGACCCTTGCCCCCTCCTCC	0.542													22	43					0	0	0.639603	0	0	T	153475624	C	T	153475624	3	4	16	1	0	0	0	0	1	0	0	0	5985	739	26	2	1633	2	FMNL2	2	153475624	Missense_Mutation	SNP	C	TCGA-CH-5761-01A-11D-1576-08	17553399	153475624	89723749	13	816											
ERBB4	2066	broad.mit.edu	37	chr2	212251657	212251657	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggctccgttctggggcaaaCacggtggggtcagcactgta	7	8	16	10	2	2	0	1	0	1	0	3	0	3	0	1	6	2	5	1	6	2	2			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr2:212251657C>A	ENST00000342788.4	-	27	3712	c.3402G>T	c.(3400-3402)gtG>gtT	p.V1134V	ERBB4_ENST00000436443.1_Silent_p.V1118V|ERBB4_ENST00000402597.1_Silent_p.V1124V	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1134					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.V1134V(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CTGGGGCAAACACGGTGGGGT	0.522										TSP Lung(8;0.080)			54	124					1.93748e-29	2.45251e-29	0.870114	1	0	A	212251657	C	A	212251657	2	1	16	1	0	0	0	0	0	0	0	1	5237	465	17	4		4	ERBB4	2	212251657	Silent	SNP	C	TCGA-CH-5761-01A-11D-1576-08	58776033	212251657	30947716	14	817											
RHBDD1	84236	broad.mit.edu	37	chr2	227729679	227729679	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aatatggcatccatgctctgGaaaggaataaatctagaaag	17	9	9	6	0	2	1	0	0	2	1	3	3	3	3	1	3	1	2	1	3	8	3			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr2:227729679G>A	ENST00000392062.2	+	4	794	c.270G>A	c.(268-270)tgG>tgA	p.W90*	RHBDD1_ENST00000341329.3_Nonsense_Mutation_p.W90*	NM_001167608.1	NP_001161080.1	Q8TEB9	RHBD1_HUMAN	rhomboid domain containing 1	90						integral to membrane	serine-type endopeptidase activity	p.W90*(1)		breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		CCATGCTCTGGAAAGGAATAA	0.423													7	329					0	0	0.27861	0	0	A	227729679	G	A	227729679	4	1	16	1	0	0	0	0	0	1	0	0	13366	1183	41	2	272	2	RHBDD1	2	227729679	Nonsense_Mutation	SNP	G	TCGA-CH-5761-01A-11D-1576-08	15478022	227729679	15469694	15	818			1	2		2	2	24	G		5.423551e-05
RHBDD1	84236	broad.mit.edu	37	chr2	227729702	227729702	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggaataaatctagaaagaaGactgggaagtagatggtttg	17	9	13	2	0	1	4	0	0	1	4	1	6	1	6	0	3	0	2	0	3	8	4			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr2:227729702G>C	ENST00000392062.2	+	4	817	c.293G>C	c.(292-294)aGa>aCa	p.R98T	RHBDD1_ENST00000341329.3_Missense_Mutation_p.R98T	NM_001167608.1	NP_001161080.1	Q8TEB9	RHBD1_HUMAN	rhomboid domain containing 1	98						integral to membrane	serine-type endopeptidase activity	p.R98T(1)		breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		CTAGAAAGAAGACTGGGAAGT	0.423													8	330					0	0	0.27861	0	0	C	227729702	G	C	227729702	3	2	16	1	0	0	0	0	1	0	0	0	13366	942	33	4	295	4	RHBDD1	2	227729702	Missense_Mutation	SNP	G	TCGA-CH-5761-01A-11D-1576-08	23	227729702	15469671	16	819			1	2		2	2	24	G		5.423551e-05
PASK	23178	broad.mit.edu	37	chr2	242066484	242066484	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgccaccacaagccccattCactcccatagcaagggcagt	11	6	7	17	1	1	0	1	0	0	0	3	0	2	0	5	1	2	2	5	1	3	2			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr2:242066484C>A	ENST00000403638.3	-	10	1937	c.1846G>T	c.(1846-1848)Gaa>Taa	p.E616*	PASK_ENST00000358649.4_Nonsense_Mutation_p.E616*|PASK_ENST00000234040.4_Nonsense_Mutation_p.E616*|PASK_ENST00000544142.1_Nonsense_Mutation_p.E430*|PASK_ENST00000405260.1_Nonsense_Mutation_p.E616*|PASK_ENST00000539818.1_Nonsense_Mutation_p.E400*	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	616					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		AAGCCCCATTCACTCCCATAG	0.662													4	156					2.56e-06	3.01176e-06	0.150653	1	0	A	242066484	C	A	242066484	4	1	16	1	0	0	0	0	0	1	0	0	11519	835	29	4	2161	4	PASK	2	242066484	Nonsense_Mutation	SNP	C	TCGA-CH-5761-01A-11D-1576-08	14336782	242066484	1132889	17	820											
CNTN4	152330	broad.mit.edu	37	chr3	2613235	2613235	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgcaatcattcattttgtgCcttgcaggtagagtgtcatt	8	16	9	8	0	3	1	3	0	0	1	3	1	3	1	1	1	3	3	1	1	2	6			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr3:2613235C>A	ENST00000397461.1	+	3	432	c.48C>A	c.(46-48)tgC>tgA	p.C16*	CNTN4_ENST00000418658.1_Nonsense_Mutation_p.C16*|CNTN4_ENST00000427331.1_Nonsense_Mutation_p.C16*	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	16					axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	p.C16*(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TCATTTTGTGCCTTGCAGGTA	0.393													66	111					5.79337e-17	7.1523e-17	0.870114	1	0	A	2613235	C	A	2613235	4	1	16	1	0	0	0	0	0	1	0	0	3666	747	26	4	50	4	CNTN4	3	2613235	Nonsense_Mutation	SNP	C	TCGA-CH-5761-01A-11D-1576-08		2613235	195409195	18	821											
SETD5	55209	broad.mit.edu	37	chr3	9482170	9482170	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgaagcacagaatttagatGagaatacaactgagggctgg	15	8	12	6	0	0	5	0	3	0	3	0	6	0	5	0	2	3	2	0	2	6	3			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr3:9482170G>A	ENST00000402466.1	+	9	1072	c.304G>A	c.(304-306)Gag>Aag	p.E102K	SETD5_ENST00000407969.1_Missense_Mutation_p.E219K|SETD5_ENST00000302463.6_Missense_Mutation_p.E102K|SETD5_ENST00000406341.1_Missense_Mutation_p.E200K|SETD5_ENST00000402198.1_Missense_Mutation_p.E200K			Q9C0A6	SETD5_HUMAN	SET domain containing 5	200								p.E200K(1)|p.E102K(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		GAATTTAGATGAGAATACAAC	0.433													15	39					0	0	0.667858	0	0	A	9482170	G	A	9482170	3	1	16	1	0	0	0	0	1	0	0	0	14188	1291	45	2	620	2	SETD5	3	9482170	Missense_Mutation	SNP	G	TCGA-CH-5761-01A-11D-1576-08	6868935	9482170	188540260	19	822			2	3		5	4	137	N	G	5.375583e-12
SETD5	55209	broad.mit.edu	37	chr3	9482199	9482199	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	actgagggctgggaaaatcgGataagactatggactgacca	14	7	13	7	1	0	3	0	2	0	1	1	6	0	6	1	4	0	1	1	4	4	2			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr3:9482199G>A	ENST00000402466.1	+	9	1101	c.333G>A	c.(331-333)cgG>cgA	p.R111R	SETD5_ENST00000407969.1_Silent_p.R228R|SETD5_ENST00000302463.6_Silent_p.R111R|SETD5_ENST00000406341.1_Silent_p.R209R|SETD5_ENST00000402198.1_Silent_p.R209R			Q9C0A6	SETD5_HUMAN	SET domain containing 5	209								p.R111R(1)|p.R209R(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		GGGAAAATCGGATAAGACTAT	0.413													4	50					0	0	0.693898	0	0	A	9482199	G	A	9482199	2	1	16	1	0	0	0	0	0	0	0	1	14188	1161	41	2		2	SETD5	3	9482199	Silent	SNP	G	TCGA-CH-5761-01A-11D-1576-08	29	9482199	188540231	20	823			2	3		5	4	137	N	G	5.375583e-12
SETD5	55209	broad.mit.edu	37	chr3	9482254	9482254	+	Missense_Mutation	SNP	G	G	A																															tcactaatcagtacagtgcaGatgtacagaacgcgcttgaa																										TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr3:9482254G>A	ENST00000402466.1	+	9	1156	c.388G>A	c.(388-390)Gat>Aat	p.D130N	SETD5_ENST00000407969.1_Missense_Mutation_p.D247N|SETD5_ENST00000302463.6_Missense_Mutation_p.D130N|SETD5_ENST00000406341.1_Missense_Mutation_p.D228N|SETD5_ENST00000402198.1_Missense_Mutation_p.D228N			Q9C0A6	SETD5_HUMAN	SET domain containing 5	228								p.D228N(1)|p.D130N(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		GTACAGTGCAGATGTACAGAA	0.398													8	55					0	0	0.779181	0	0	A	9482254	G	A	9482254	3	1	16	1	0	0	0	0	1	0	0	0	14188	942	33	2	704	2	SETD5	3	9482254	Missense_Mutation	SNP	G	TCGA-CH-5761-01A-11D-1576-08	55	9482254	188540176	21	824	7	2	2	3		5	4	137	N	G	5.375583e-12
SETD5	55209	broad.mit.edu	37	chr3	9482262	9482262	+	Missense_Mutation	SNP	G	G	C																															cagtacagtgcagatgtacaGaacgcgcttgaacaacacct																										TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr3:9482262G>C	ENST00000402466.1	+	9	1164	c.396G>C	c.(394-396)caG>caC	p.Q132H	SETD5_ENST00000407969.1_Missense_Mutation_p.Q249H|SETD5_ENST00000302463.6_Missense_Mutation_p.Q132H|SETD5_ENST00000406341.1_Missense_Mutation_p.Q230H|SETD5_ENST00000402198.1_Missense_Mutation_p.Q230H			Q9C0A6	SETD5_HUMAN	SET domain containing 5	230								p.Q230H(1)|p.Q132H(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		CAGATGTACAGAACGCGCTTG	0.393													11	53					0	0	0.750413	0	0	C	9482262	G	C	9482262	3	2	16	1	0	0	0	0	1	0	0	0	14188	933	33	4	712	4	SETD5	3	9482262	Missense_Mutation	SNP	G	TCGA-CH-5761-01A-11D-1576-08	8	9482262	188540168	22	825	7	2	2	3		5	4	137	N	G	5.375583e-12
SETD5	55209	broad.mit.edu	37	chr3	9482306	9482306	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttctagcaaggaatttgtggGcaaacctactattttagaca	13	13	8	7	0	1	1	0	0	1	1	1	2	1	2	1	2	3	2	1	2	7	7			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr3:9482306G>A	ENST00000402466.1	+	9	1208	c.440G>A	c.(439-441)gGc>gAc	p.G147D	SETD5_ENST00000407969.1_Missense_Mutation_p.G264D|SETD5_ENST00000302463.6_Missense_Mutation_p.G147D|SETD5_ENST00000406341.1_Missense_Mutation_p.G245D|SETD5_ENST00000402198.1_Missense_Mutation_p.G245D			Q9C0A6	SETD5_HUMAN	SET domain containing 5	245								p.G147D(1)|p.G245D(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		GAATTTGTGGGCAAACCTACT	0.408													5	39					0	0	0.592651	0	0	A	9482306	G	A	9482306	3	1	16	1	0	0	0	0	1	0	0	0	14188	1203	42	2	756	2	SETD5	3	9482306	Missense_Mutation	SNP	G	TCGA-CH-5761-01A-11D-1576-08	44	9482306	188540124	23	826			2	3		5	4	137	N	G	5.375583e-12
IRAK2	3656	broad.mit.edu	37	chr3	10268074	10268074	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgttggccgaggtcctcaCgggcatccctgcaatggata	7	9	14	11	2	1	0	1	0	0	0	3	2	3	1	3	5	1	3	3	5	2	2			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr3:10268074C>T	ENST00000256458.4	+	10	1319	c.1229C>T	c.(1228-1230)aCg>aTg	p.T410M		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	410	Protein kinase.				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity	p.T410M(1)		breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						GAGGTCCTCACGGGCATCCCT	0.537													26	46					0	0	0.693898	0	0	T	10268074	C	T	10268074	3	4	16	1	0	0	0	0	1	0	0	0	7867	536	19	1	1267	1	IRAK2	3	10268074	Missense_Mutation	SNP	C	TCGA-CH-5761-01A-11D-1576-08	785768	10268074	187754356	24	827											
TRANK1	9881	broad.mit.edu	37	chr3	36874132	36874132	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtgcgctttcattttcaaaCagaaagtggatgtactcctt	10	14	8	9	2	2	1	2	0	0	1	3	2	3	2	1	1	3	2	1	1	3	5			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr3:36874132C>T	ENST00000429976.2	-	21	7057	c.6810G>A	c.(6808-6810)ctG>ctA	p.L2270L	TRANK1_ENST00000301807.6_Silent_p.L1720L|TRANK1_ENST00000428977.2_Silent_p.L1720L			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2270					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	p.L1713L(1)|p.L1720L(1)|p.L2270L(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CATTTTCAAACAGAAAGTGGA	0.468													103	98					0	0	0.870114	0	0	T	36874132	C	T	36874132	2	4	16	1	0	0	0	0	0	0	0	1	16515	465	17	2		2	TRANK1	3	36874132	Silent	SNP	C	TCGA-CH-5761-01A-11D-1576-08	26606058	36874132	161148298	25	828											
RBM5	10181	broad.mit.edu	37	chr3	50147121	50147121	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccaatccacctggctctccGgtaatcctgttgtcctatat	7	14	6	14	1	1	0	0	0	1	0	6	0	5	0	6	2	0	3	6	2	4	4			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr3:50147121G>A	ENST00000347869.3	+	15	1453	c.1278_splice	c.e15+1	p.P426_splice	RBM5_ENST00000441812.2_3'UTR	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	426	Required for interaction with U2AF2.				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding	p.P426P(1)		breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTGGCTCTCCGGTAATCCTGT	0.463													88	228					0	0	0.870114	0	0	A	50147121	G	A	50147121	5	1	16	1	0	0	0	0	0	0	1	0	13195	1130	39	1	1332	1	RBM5	3	50147121	Splice_Site	SNP	G	TCGA-CH-5761-01A-11D-1576-08	13272989	50147121	147875309	26	829											
ZIC1	7545	broad.mit.edu	37	chr3	147130364	147130364	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcgcttcgctaacagcagcGaccgcaagaagcacatgcac	12	4	11	14	4	0	1	0	0	0	1	1	2	0	1	1	1	5	6	1	1	3	2			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr3:147130364G>A	ENST00000282928.4	+	2	1771	c.1042G>A	c.(1042-1044)Gac>Aac	p.D348N		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	348					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D348N(2)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						TAACAGCAGCGACCGCAAGAA	0.532													39	208					0	0	0.840704	0	0	A	147130364	G	A	147130364	3	1	16	1	0	0	0	0	1	0	0	0	17736	1058	37	1	1048	1	ZIC1	3	147130364	Missense_Mutation	SNP	G	TCGA-CH-5761-01A-11D-1576-08	96983243	147130364	50892066	27	830											
AADAC	13	broad.mit.edu	37	chr3	151545911	151545911	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttctgggacttaaaattaGtcacagacttataaatcagt	15	14	6	6	0	3	1	2	0	1	1	3	2	3	2	0	1	0	0	0	1	6	5			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr3:151545911G>T	ENST00000232892.6	+	5	1277	c.1151G>T	c.(1150-1152)aGt>aTt	p.S384I	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase	384					positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity	p.S384I(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CTTAAAATTAGTCACAGACTT	0.348													59	111					1.4709e-25	1.83863e-25	0.870114	1	0	T	151545911	G	T	151545911	3	4	16	1	0	0	0	0	1	0	0	0	10	1029	36	4	1169	4	AADAC	3	151545911	Missense_Mutation	SNP	G	TCGA-CH-5761-01A-11D-1576-08	4415547	151545911	46476519	28	831											
CLCN2	1181	broad.mit.edu	37	chr3	184075851	184075851	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctttcagcaccactccccGcaagatggtcttcatctcag	8	12	6	15	1	5	1	3	0	3	1	7	1	6	1	3	1	1	2	3	1	1	3			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr3:184075851G>T	ENST00000265593.4	-	5	685	c.514C>A	c.(514-516)Cgg>Agg	p.R172R	CLCN2_ENST00000457512.1_Silent_p.R172R|CLCN2_ENST00000423355.2_5'UTR|CLCN2_ENST00000344937.7_Silent_p.R172R|CLCN2_ENST00000434054.2_Silent_p.R128R|EIF2B5_ENST00000444495.1_Intron	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	172						chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	ACCACTCCCCGCAAGATGGTC	0.572													4	231					0.00909568	0.00999525	0.150653	1	0	T	184075851	G	T	184075851	2	4	16	1	0	0	0	0	0	0	0	1	3486	1086	38	4		4	CLCN2	3	184075851	Silent	SNP	G	TCGA-CH-5761-01A-11D-1576-08	32529940	184075851	13946579	29	832											
PPAT	5471	broad.mit.edu	37	chr4	57272694	57272694	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagcagcatttaccaattcGccattatgtgccacagctat	11	11	7	12	2	0	0	0	0	0	0	1	1	0	0	3	0	5	3	3	0	4	5			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr4:57272694G>A	ENST00000264220.2	-	3	506	c.369C>T	c.(367-369)ggC>ggT	p.G123G	PPAT_ENST00000507648.1_5'UTR	NM_002703.4	NP_002694.3	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase	123	Glutamine amidotransferase type-2.				glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process	cytosol	4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding	p.G123G(1)		cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	20	Glioma(25;0.08)|all_neural(26;0.101)				L-Glutamine(DB00130)|Thioguanine(DB00352)	TTACCAATTCGCCATTATGTG	0.393													81	170					0	0	0.870114	0	0	A	57272694	G	A	57272694	2	1	16	1	0	0	0	0	0	0	0	1	12347	1074	38	1		1	PPAT	4	57272694	Silent	SNP	G	TCGA-CH-5761-01A-11D-1576-08		57272694	133881582	30	833											
LPHN3	23284	broad.mit.edu	37	chr4	62598777	62598777	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acatagtaaagtttgatttgCggactaggataaagagtgga	15	11	12	3	1	0	2	0	1	0	1	0	5	0	5	0	3	1	2	0	3	6	6			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr4:62598777C>T	ENST00000512091.1	+	7	1447	c.700C>T	c.(700-702)Cgg>Tgg	p.R234W	LPHN3_ENST00000504896.1_Missense_Mutation_p.R234W|LPHN3_ENST00000508946.1_Missense_Mutation_p.R234W|LPHN3_ENST00000509896.1_Missense_Mutation_p.R302W|LPHN3_ENST00000508693.1_Missense_Mutation_p.R302W|LPHN3_ENST00000545650.1_Missense_Mutation_p.R234W|LPHN3_ENST00000514591.1_Missense_Mutation_p.R234W|LPHN3_ENST00000506720.1_Missense_Mutation_p.R302W|LPHN3_ENST00000507625.1_Missense_Mutation_p.R302W|LPHN3_ENST00000514996.1_Missense_Mutation_p.R234W|LPHN3_ENST00000511324.1_Missense_Mutation_p.R302W|LPHN3_ENST00000506746.1_Missense_Mutation_p.R302W|LPHN3_ENST00000507164.1_Missense_Mutation_p.R302W|LPHN3_ENST00000506700.1_Missense_Mutation_p.R234W|LPHN3_ENST00000514157.1_Missense_Mutation_p.R234W			Q9HAR2	LPHN3_HUMAN	latrophilin 3	234	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	p.R234W(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GTTTGATTTGCGGACTAGGAT	0.468													15	41					0	0	0.500413	0	0	T	62598777	C	T	62598777	3	4	16	1	0	0	0	0	1	0	0	0	8962	759	27	1	718	1	LPHN3	4	62598777	Missense_Mutation	SNP	C	TCGA-CH-5761-01A-11D-1576-08	5326083	62598777	128555499	31	834											
CLGN	1047	broad.mit.edu	37	chr4	141317358	141317358	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttgggcaggttcactttcatCcctgtaaatacaacgtttta	10	15	7	9	1	2	0	2	0	0	0	3	0	3	0	1	2	2	4	1	2	5	7			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr4:141317358C>T	ENST00000325617.5	-	9	1326	c.884_splice	c.e9-1	p.D296_splice	CLGN_ENST00000537281.1_Splice_Site_p.D296_splice|CLGN_ENST00000414773.1_Splice_Site_p.D296_splice	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	296					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding	p.D296N(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					TCACTTTCATCCCTGTAAATA	0.338													63	246					0	0	0.870114	0	0	T	141317358	C	T	141317358	5	4	16	1	0	0	0	0	0	0	1	0	3547	869	30	2	974	2	CLGN	4	141317358	Splice_Site	SNP	C	TCGA-CH-5761-01A-11D-1576-08	78718581	141317358	49836918	32	835											
FGA	2243	broad.mit.edu	37	chr4	155507194	155507194	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacagtcttagtaacggtttTagagcatgaacgacgcgtgg	12	10	12	7	4	1	2	0	1	1	1	1	3	1	2	0	2	4	3	0	2	5	4			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr4:155507194T>G	ENST00000302053.3	-	5	1465	c.1387A>C	c.(1387-1389)Aaa>Caa	p.K463Q	FGA_ENST00000403106.3_Missense_Mutation_p.K463Q	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	463					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	p.K463Q(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GTAACGGTTTTAGAGCATGAA	0.468													133	312					0	0	0.870114	0	0	G	155507194	T	G	155507194	3	3	16	1	0	0	0	0	1	0	0	0	5863	1763	61	5	1265	5	FGA	4	155507194	Missense_Mutation	SNP	T	TCGA-CH-5761-01A-11D-1576-08	14189836	155507194	35647082	33	836											
DEK	7913	broad.mit.edu	37	chr6	18258550	18258550	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttaccttgtgcaattgtaaAtggctctctctgtaaggaag	10	14	9	8	0	2	0	0	0	2	0	3	1	2	1	1	2	2	4	1	2	6	5			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr6:18258550A>C	ENST00000397239.3	-	3	679	c.232T>G	c.(232-234)Ttt>Gtt	p.F78V	DEK_ENST00000244776.7_Intron	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	DEK oncogene	78					chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|histone binding	p.F78V(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			GCAATTGTAAATGGCTCTCTC	0.363			T	NUP214	AML								56	186					0	0	0.870114	0	0	C	18258550	A	C	18258550	3	2	16	1	0	0	0	0	1	0	0	0	4452	101	4	5	931	5	DEK	6	18258550	Missense_Mutation	SNP	A	TCGA-CH-5761-01A-11D-1576-08		18258550	152856517	34	837											
SLC35F1	222553	broad.mit.edu	37	chr6	118598702	118598702	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgaaggtgccctgggactgGcaaataggtaaggagttggc	10	9	16	6	0	0	1	0	1	0	0	0	3	0	3	1	6	1	3	1	6	4	4			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr6:118598702G>A	ENST00000360388.4	+	6	1041	c.840G>A	c.(838-840)tgG>tgA	p.W280*		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	280					transport	integral to membrane		p.W280*(1)		breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		CCTGGGACTGGCAAATAGGTA	0.433													4	242					0	0	0.217242	0	0	A	118598702	G	A	118598702	4	1	16	1	0	0	0	0	0	1	0	0	14643	1212	42	2	862	2	SLC35F1	6	118598702	Nonsense_Mutation	SNP	G	TCGA-CH-5761-01A-11D-1576-08	100340152	118598702	52516365	35	838											
INTS1	26173	broad.mit.edu	37	chr7	1538175	1538175	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccaggttgtccttgtgcGcgctcagcagctccctgggt	3	11	13	14	2	1	0	1	0	0	0	3	0	3	0	3	2	4	4	3	2	0	2			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr7:1538175G>A	ENST00000389470.4	-	11	1681	c.1682C>T	c.(1681-1683)gCg>gTg	p.A561V	INTS1_ENST00000404767.3_Missense_Mutation_p.A433V			Q8N201	INT1_HUMAN	integrator complex subunit 1	433					snRNA processing	integral to membrane|integrator complex|nuclear membrane		p.A561V(1)		autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GTCCTTGTGCGCGCTCAGCAG	0.647													18	22					0	0	0.575678	0	0	A	1538175	G	A	1538175	3	1	16	1	0	0	0	0	1	0	0	0	7819	1087	38	1	5430	1	INTS1	7	1538175	Missense_Mutation	SNP	G	TCGA-CH-5761-01A-11D-1576-08		1538175	157600488	36	839											
ZAN	7455	broad.mit.edu	37	chr7	100350275	100350275	+	RNA	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcaccatccccatggaaaaAcccaccatctccacagaaaa	16	5	3	17	0	2	1	1	0	1	1	4	2	3	2	6	1	1	0	6	1	4	0			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr7:100350275A>G	ENST00000542585.1	+	0	2695				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		p.K849K(3)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCATGGAAAAACCCACCATCT	0.507													39	71					0	0	0.834066	0	0	G	100350275	A	G	100350275	1	3	16	0	1	0	0	0	0	0	0	0	17573	40	2	3		3	ZAN	7	100350275	RNA	SNP	A	TCGA-CH-5761-01A-11D-1576-08	98812100	100350275	58788388	37	840											
KCND2	3751	broad.mit.edu	37	chr7	120381668	120381668	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaaacggaatggtttactCagtaatcagctgcaggtaca	14	9	10	8	1	2	0	2	0	0	0	2	1	2	1	0	3	6	6	0	3	5	4			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr7:120381668C>A	ENST00000331113.4	+	3	2324	c.1359C>A	c.(1357-1359)ctC>ctA	p.L453L		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	453					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	p.L453L(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					ATGGTTTACTCAGTAATCAGC	0.358													30	48					1.7881e-09	2.15434e-09	0.729181	1	0	A	120381668	C	A	120381668	2	1	16	1	0	0	0	0	0	0	0	1	8063	813	29	4		4	KCND2	7	120381668	Silent	SNP	C	TCGA-CH-5761-01A-11D-1576-08	20031393	120381668	38756995	38	841											
MGAM	8972	broad.mit.edu	37	chr7	141754596	141754596	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtatgaagttccagtccctCtgaacatacccagcatgcca	11	9	8	13	0	1	2	0	2	1	0	3	2	3	2	4	1	4	3	4	1	4	3			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr7:141754596C>T	ENST00000475668.2	+	27	3256	c.3202C>T	c.(3202-3204)Ctg>Ttg	p.L1068L	MGAM_ENST00000549489.2_Silent_p.L1068L			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1068	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.L1068L(4)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCCAGTCCCTCTGAACATACC	0.433													118	84					0	0	0.870114	0	0	T	141754596	C	T	141754596	2	4	16	1	0	0	0	0	0	0	0	1	9591	912	32	2		2	MGAM	7	141754596	Silent	SNP	C	TCGA-CH-5761-01A-11D-1576-08	21372928	141754596	17384067	39	842											
C5	727	broad.mit.edu	37	chr9	123805397	123805397	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgatacaacttccaaataCacataagaaactgggttttg	15	13	6	7	0	0	2	0	1	0	1	1	2	1	2	1	1	4	1	1	1	6	7	rs151322743	byFrequency	TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr9:123805397C>T	ENST00000223642.1	-	3	335	c.306G>A	c.(304-306)gtG>gtA	p.V102V		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	102					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity	p.V102V(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	CTTCCAAATACACATAAGAAA	0.299													23	80					0	0	0.624587	0	0	T	123805397	C	T	123805397	2	4	16	1	0	0	0	0	0	0	0	1	2295	465	17	2		2	C5	9	123805397	Silent	SNP	C	TCGA-CH-5761-01A-11D-1576-08		123805397	17408034	40	843											
GAPVD1	26130	broad.mit.edu	37	chr9	128122940	128122940	+	Frame_Shift_Del	DEL	C	C	-																															tatgaacctcctgagcctggCcaatgaggactctgtccctg																										TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr9:128122940delC	ENST00000470056.1	+	24	4257	c.4097delC	c.(4096-4098)gcfs	p.A1366fs	GAPVD1_ENST00000265956.4_Frame_Shift_Del_p.A1385fs|GAPVD1_ENST00000495955.1_Frame_Shift_Del_p.A1411fs|GAPVD1_ENST00000297933.6_Frame_Shift_Del_p.A1393fs|GAPVD1_ENST00000394105.2_Frame_Shift_Del_p.A1420fs|GAPVD1_ENST00000312123.9_Frame_Shift_Del_p.A1372fs|GAPVD1_ENST00000394083.2_Frame_Shift_Del_p.A1345fs|GAPVD1_ENST00000394104.2_Frame_Shift_Del_p.A1411fs			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	1411	VPS9.				endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CTGAGCCTGGCCAATGAGGAC	0.468													93	200	---	---	---	---						-	128122940	C	-	128122940	7	5	16	1	0	1	0	1	0	0	0	0	6279	739	26	0	4357	0	GAPVD1	9	128122940	Frame_Shift_Del	DEL	C	TCGA-CH-5761-01A-11D-1576-08	4317543	128122940	13090491	41	844											
TPRN	286262	broad.mit.edu	37	chr9	140086590	140086590	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atacagggctggctcgctgcGgaagtccgagaggtcattct	8	9	14	10	3	2	1	1	0	1	1	4	3	3	2	1	4	2	3	1	4	2	2			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr9:140086590G>A	ENST00000409012.4	-	4	2196	c.2110C>T	c.(2110-2112)Cgc>Tgc	p.R704C	TPRN_ENST00000321773.2_Missense_Mutation_p.R671C	NM_001128228.2	NP_001121700.2	Q4KMQ1	TPRN_HUMAN	taperin	704					sensory perception of sound	stereocilium		p.R426C(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						GGCTCGCTGCGGAAGTCCGAG	0.627													18	40					0	0	0.804634	0	0	A	140086590	G	A	140086590	3	1	16	1	0	0	0	0	1	0	0	0	16482	1116	39	1	29	1	TPRN	9	140086590	Missense_Mutation	SNP	G	TCGA-CH-5761-01A-11D-1576-08	11963650	140086590	1126841	42	845											
MLLT10	8028	broad.mit.edu	37	chr10	22022438	22022438	+	Frame_Shift_Del	DEL	A	A	-																															cttttattattctagctcctActactgattccttgaacagc																										TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr10:22022438delA	ENST00000377072.3	+	20	2809	c.2461delA	c.(2461-2463)ctfs	p.T822fs	MLLT10_ENST00000307729.7_Frame_Shift_Del_p.T806fs|MLLT10_ENST00000446906.2_Frame_Shift_Del_p.T806fs|MLLT10_ENST00000377059.3_Frame_Shift_Del_p.T806fs	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	822					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						TCTAGCTCCTACTACTGATTC	0.318			T	"MLL, PICALM, CDK6"	AL								31	41	---	---	---	---						-	22022438	A	-	22022438	7	5	16	1	0	1	0	1	0	0	0	0	9674	391	14	0	2535	0	MLLT10	10	22022438	Frame_Shift_Del	DEL	A	TCGA-CH-5761-01A-11D-1576-08		22022438	113512309	43	846											
TFAM	7019	broad.mit.edu	37	chr10	60148567	60148567	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catttaaaaaggaaagctatGacaaaaaaaaaagtgagtat	23	8	7	3	0	0	2	0	2	0	0	0	3	0	3	0	1	1	2	0	1	11	4			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr10:60148567G>A	ENST00000487519.1	+	4	955	c.429G>A	c.(427-429)atG>atA	p.M143I	TFAM_ENST00000373895.3_Missense_Mutation_p.M143I|TFAM_ENST00000373899.3_3'UTR	NM_003201.1	NP_003192.1	Q00059	TFAM_HUMAN	transcription factor A, mitochondrial	143					DNA-dependent DNA replication|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase I promoter|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	mitochondrial light strand promoter sense binding|protein binding|sequence-specific DNA binding transcription factor activity	p.M143I(1)		kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						GGAAAGCTATGACAAAAAAAA	0.269													46	83					0	0	0.870114	0	0	A	60148567	G	A	60148567	3	1	16	1	0	0	0	0	1	0	0	0	15846	1290	45	2	443	2	TFAM	10	60148567	Missense_Mutation	SNP	G	TCGA-CH-5761-01A-11D-1576-08	38126129	60148567	75386180	44	847											
HARBI1	283254	broad.mit.edu	37	chr11	46625305	46625305	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagtgcccccttggatccAtccaggcagcggaatcggga	8	7	13	13	2	0	0	0	0	0	0	3	3	2	3	4	4	3	2	4	4	1	1			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr11:46625305A>C	ENST00000326737.3	-	3	1072	c.825T>G	c.(823-825)gaT>gaG	p.D275E		NM_173811.3	NP_776172.1	Q96MB7	HARB1_HUMAN	harbinger transposase derived 1	275						cytoplasm|nucleus	metal ion binding|nuclease activity	p.D275E(1)		large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						CCTTGGATCCATCCAGGCAGC	0.517													15	33					0	0	0.479597	0	0	C	46625305	A	C	46625305	3	2	16	1	0	0	0	0	1	0	0	0	6999	214	8	5	228	5	HARBI1	11	46625305	Missense_Mutation	SNP	A	TCGA-CH-5761-01A-11D-1576-08		46625305	88381211	45	848											
KCNK4	50801	broad.mit.edu	37	chr11	64065643	64065643	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgtggttctggatcctgctCggcctggcttacttcgcctc	2	14	12	13	2	1	0	0	0	1	0	5	1	2	1	3	4	2	3	3	4	1	3	rs143683020		TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr11:64065643C>T	ENST00000538767.1	+	5	628	c.376C>T	c.(376-378)Cgg>Tgg	p.R126W	KCNK4_ENST00000422670.2_Silent_p.L241L|KCNK4_ENST00000539651.1_3'UTR|KCNK4_ENST00000394525.2_Silent_p.L241L|KCNK4_ENST00000539216.1_Silent_p.L241L|RP11-783K16.10_ENST00000539086.1_RNA			Q9NYG8	KCNK4_HUMAN	potassium channel, subfamily K, member 4	0						integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.L241L(1)		breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	10						GGATCCTGCTCGGCCTGGCTT	0.637													16	36					0	0	0.520397	0	0	T	64065643	C	T	64065643	3	4	16	1	0	0	0	0	1	0	0	0	8112	871	31	1	741	1	KCNK4	11	64065643	Missense_Mutation	SNP	C	TCGA-CH-5761-01A-11D-1576-08	17440338	64065643	70940873	46	849											
FZD4	8322	broad.mit.edu	37	chr11	86662613	86662613	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaatgaccaaataagtaaaGaggggagccaccacgaaccc	17	3	9	12	1	0	2	0	1	0	1	0	4	0	3	5	2	2	1	5	2	6	2			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr11:86662613G>A	ENST00000531380.1	-	2	1490	c.1185C>T	c.(1183-1185)ctC>ctT	p.L395L	PRSS23_ENST00000533902.2_3'UTR|PRSS23_ENST00000531521.1_3'UTR	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled family receptor 4	395					canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding	p.L395L(1)		breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AATAAGTAAAGAGGGGAGCCA	0.453													8	182					0	0	0.27861	0	0	A	86662613	G	A	86662613	2	1	16	1	0	0	0	0	0	0	0	1	6167	929	33	2		2	FZD4	11	86662613	Silent	SNP	G	TCGA-CH-5761-01A-11D-1576-08	22596970	86662613	48343903	47	850			3	4		5	5	618	N	G_-	1.84699e-13
FZD4	8322	broad.mit.edu	37	chr11	86662648	86662648	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaacccggtgagggcatcgaGattttggtttccaacatagc	10	10	12	9	2	0	2	0	1	0	1	2	4	1	2	2	3	3	2	2	3	3	4			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr11:86662648G>A	ENST00000531380.1	-	2	1455	c.1150C>T	c.(1150-1152)Ctc>Ttc	p.L384F	PRSS23_ENST00000533902.2_3'UTR|PRSS23_ENST00000531521.1_3'UTR	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled family receptor 4	384					canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding	p.L384F(1)		breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AGGGCATCGAGATTTTGGTTT	0.483													10	150					0	0	0.335167	0	0	A	86662648	G	A	86662648	3	1	16	1	0	0	0	0	1	0	0	0	6167	942	33	2	467	2	FZD4	11	86662648	Missense_Mutation	SNP	G	TCGA-CH-5761-01A-11D-1576-08	35	86662648	48343868	48	851			3	4		5	5	618	N	G_-	1.84699e-13
FZD4	8322	broad.mit.edu	37	chr11	86662880	86662880	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaaaaaagtacatcagcaaGaaaattattgcacatcctgt	18	9	5	9	0	1	1	1	0	0	1	2	1	2	1	2	0	3	3	2	0	8	3			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr11:86662880G>A	ENST00000531380.1	-	2	1223	c.918C>T	c.(916-918)ttC>ttT	p.F306F	PRSS23_ENST00000533902.2_3'UTR	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled family receptor 4	306					canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding	p.F306F(1)		breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ACATCAGCAAGAAAATTATTG	0.448													3	86					0	0	0.115264	0	0	A	86662880	G	A	86662880	2	1	16	1	0	0	0	0	0	0	0	1	6167	933	33	2		2	FZD4	11	86662880	Silent	SNP	G	TCGA-CH-5761-01A-11D-1576-08	232	86662880	48343636	49	852			3	4		5	5	618	N	G_-	1.84699e-13
FZD4	8322	broad.mit.edu	37	chr11	86663024	86663024	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taaatattatagcacatactGagaaatatgatggggcgctc	15	11	9	6	1	0	2	0	2	0	1	1	3	0	2	0	2	2	2	0	2	8	6			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr11:86663024G>A	ENST00000531380.1	-	2	1079	c.774C>T	c.(772-774)ctC>ctT	p.L258L	PRSS23_ENST00000533902.2_3'UTR	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled family receptor 4	258					canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding	p.L258L(1)		breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AGCACATACTGAGAAATATGA	0.458													7	61					0	0	0.27861	0	0	A	86663024	G	A	86663024	2	1	16	1	0	0	0	0	0	0	0	1	6167	1277	45	2		2	FZD4	11	86663024	Silent	SNP	G	TCGA-CH-5761-01A-11D-1576-08	144	86663024	48343492	50	853			3	4		5	5	618	N	G_-	1.84699e-13
FZD4	8322	broad.mit.edu	37	chr11	86663230	86663231	+	Frame_Shift_Ins	INS	-	-	T																															cttttcacccagatgtactgINSatcagaattggttcccacag																										TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr11:86663230_86663231insT	ENST00000531380.1	-	2	872_873	c.567_568insA	c.(565-570)gaagtafs	p.V190fs	PRSS23_ENST00000533902.2_3'UTR	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled family receptor 4	190					canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CAGATGTACTGATCAGAATTGG	0.515													7	234	---	---	---	---						T	86663231	-	T	86663230	7	5	16	1	0	1	1	0	0	0	0	0	6167	1299	45	0	1049	0	FZD4	11	86663230	Frame_Shift_Ins	INS	-	TCGA-CH-5761-01A-11D-1576-08	206	86663230	48343286	51	854			3	4		5	5	618	N	G_-	1.84699e-13
PATE2	399967	broad.mit.edu	37	chr11	125647403	125647403	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacagttttgaataatgataCatgctctgccctgaggaggt	11	12	11	7	0	1	3	0	3	1	0	1	5	1	4	1	2	3	2	1	2	3	4			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr11:125647403C>T	ENST00000358524.3	-	4	261	c.216G>A	c.(214-216)atG>atA	p.M72I	PATE2_ENST00000436890.2_Missense_Mutation_p.M29I	NM_212555.2	NP_997720.1	Q6UY27	PATE2_HUMAN	prostate and testis expressed 2	72						extracellular space		p.M72I(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)	6						AATAATGATACATGCTCTGCC	0.423													33	100					0	0	0.769981	0	0	T	125647403	C	T	125647403	3	4	16	1	0	0	0	0	1	0	0	0	11521	478	17	2	129	2	PATE2	11	125647403	Missense_Mutation	SNP	C	TCGA-CH-5761-01A-11D-1576-08	38984173	125647403	9359113	52	855											
B4GALNT3	283358	broad.mit.edu	37	chr12	665808	665808	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcttgaactgttggaacaagGccagcgcgtggtgcggctct	7	9	15	10	3	1	1	0	1	1	0	1	2	1	2	1	4	4	3	1	4	3	2			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr12:665808G>T	ENST00000266383.5	+	15	2169	c.2156G>T	c.(2155-2157)gGc>gTc	p.G719V		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	719						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	p.G719V(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			TTGGAACAAGGCCAGCGCGTG	0.617													5	74					1.23904e-05	1.44074e-05	0.184627	1	0	T	665808	G	T	665808	3	4	16	1	0	0	0	0	1	0	0	0	1266	1203	42	4	2214	4	B4GALNT3	12	665808	Missense_Mutation	SNP	G	TCGA-CH-5761-01A-11D-1576-08		665808	133186087	53	856											
SLC5A8	160728	broad.mit.edu	37	chr12	101588917	101588917	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccccgttgccactaccgCgccccacagatcaaatcctg	9	6	6	20	3	1	1	1	0	0	1	2	1	2	1	7	0	2	1	7	0	2	2			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr12:101588917C>T	ENST00000536262.2	-	4	1051	c.493G>A	c.(493-495)Gcg>Acg	p.A165T		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	165					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	p.A165T(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GCCACTACCGCGCCCCACAGA	0.403													29	38					0	0	0.717897	0	0	T	101588917	C	T	101588917	3	4	16	1	0	0	0	0	1	0	0	0	14726	768	27	1	1387	1	SLC5A8	12	101588917	Missense_Mutation	SNP	C	TCGA-CH-5761-01A-11D-1576-08	100923109	101588917	32262978	54	857											
PPP2R5E	5529	broad.mit.edu	37	chr14	63858555	63858555	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctctttttgactacatgtttTaggccaaaatttcattaacc	11	17	4	9	0	2	1	1	1	1	0	2	1	2	1	2	1	2	1	2	1	5	7			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr14:63858555T>C	ENST00000337537.3	-	10	1536	c.934A>G	c.(934-936)Aaa>Gaa	p.K312E	PPP2R5E_ENST00000422769.2_Missense_Mutation_p.K236E|PPP2R5E_ENST00000553266.1_5'UTR|PPP2R5E_ENST00000555899.1_Missense_Mutation_p.K312E	NM_006246.2	NP_006237.1	Q16537	2A5E_HUMAN	protein phosphatase 2, regulatory subunit B', epsilon isoform	312					signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	p.K312E(1)		endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		CTACATGTTTTAGGCCAAAAT	0.333													40	97					0	0	0.859065	0	0	C	63858555	T	C	63858555	3	2	16	1	0	0	0	0	1	0	0	0	12445	1763	61	3	489	3	PPP2R5E	14	63858555	Missense_Mutation	SNP	T	TCGA-CH-5761-01A-11D-1576-08		63858555	43490985	55	858											
SPATA5L1	79029	broad.mit.edu	37	chr15	45695108	45695108	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caggcgctcctggcctggtgGctgccttgcacatcgtcggc	3	9	14	15	3	0	0	0	0	0	0	3	0	1	0	3	5	2	3	3	5	0	1			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr15:45695108G>A	ENST00000305560.6	+	1	580	c.481G>A	c.(481-483)Gct>Act	p.A161T	SPATA5L1_ENST00000559860.1_Missense_Mutation_p.A161T	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	161						cytoplasm	ATP binding|nucleoside-triphosphatase activity	p.A161T(1)		kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		TGGCCTGGTGGCTGCCTTGCA	0.711													7	37					0	0	0.248553	0	0	A	45695108	G	A	45695108	3	1	16	1	0	0	0	0	1	0	0	0	15068	1203	42	2	483	2	SPATA5L1	15	45695108	Missense_Mutation	SNP	G	TCGA-CH-5761-01A-11D-1576-08		45695108	56836284	56	859			4	5		3	3	62	G		1.017525e-08
SPATA5L1	79029	broad.mit.edu	37	chr15	45695158	45695158	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtcccgatcccgctgggctGgtcacccctcgtacccgcgt	4	8	11	18	5	1	0	1	0	0	0	4	1	3	0	5	2	1	3	5	2	1	1			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr15:45695158G>A	ENST00000305560.6	+	1	630	c.531G>A	c.(529-531)ctG>ctA	p.L177L	SPATA5L1_ENST00000559860.1_Silent_p.L177L	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	177						cytoplasm	ATP binding|nucleoside-triphosphatase activity	p.L177L(1)		kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		CCGCTGGGCTGGTCACCCCTC	0.731													3	26					0	0	0.115264	0	0	A	45695158	G	A	45695158	2	1	16	1	0	0	0	0	0	0	0	1	15068	1335	47	2		2	SPATA5L1	15	45695158	Silent	SNP	G	TCGA-CH-5761-01A-11D-1576-08	50	45695158	56836234	57	860			4	5		3	3	62	G		1.017525e-08
SPATA5L1	79029	broad.mit.edu	37	chr15	45695169	45695169	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgctgggctggtcacccctcGtacccgcgtcagccttggcg	3	8	13	17	5	2	0	2	0	0	0	3	0	2	0	4	3	2	3	4	3	1	2			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr15:45695169G>T	ENST00000305560.6	+	1	641	c.542G>T	c.(541-543)cGt>cTt	p.R181L	SPATA5L1_ENST00000559860.1_Missense_Mutation_p.R181L	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	181						cytoplasm	ATP binding|nucleoside-triphosphatase activity	p.R181L(1)		kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		GTCACCCCTCGTACCCGCGTC	0.736													3	23					0.004672	0.00524944	0.115264	1	0	T	45695169	G	T	45695169	3	4	16	1	0	0	0	0	1	0	0	0	15068	1145	40	4	544	4	SPATA5L1	15	45695169	Missense_Mutation	SNP	G	TCGA-CH-5761-01A-11D-1576-08	11	45695169	56836223	58	861			4	5		3	3	62	G		1.017525e-08
MYO1E	4643	broad.mit.edu	37	chr15	59564611	59564611	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccactgtgcttgacattgTggctttgccagtggtactgg	6	13	12	10	0	0	1	0	1	0	0	0	1	0	1	2	3	3	3	2	3	1	4			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr15:59564611T>G	ENST00000288235.4	-	2	440	c.41A>C	c.(40-42)cAc>cCc	p.H14P		NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	14	Myosin head-like.				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity	p.H14P(1)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		CTTGACATTGTGGCTTTGCCA	0.438													62	131					0	0	0.870114	0	0	G	59564611	T	G	59564611	3	3	16	1	0	0	0	0	1	0	0	0	10120	1696	59	5	3393	5	MYO1E	15	59564611	Missense_Mutation	SNP	T	TCGA-CH-5761-01A-11D-1576-08	13869442	59564611	42966781	59	862											
VPS33B	26276	broad.mit.edu	37	chr15	91549291	91549291	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgaatctcattaaacaccTgtgaggacagtaagacaaga	16	8	8	9	1	1	3	1	1	1	2	3	5	2	4	2	1	1	1	2	1	5	2			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr15:91549291T>A	ENST00000333371.3	-	12	1206		c.e12-2		VPS33B_ENST00000535843.1_Splice_Site|VPS33B_ENST00000535906.1_Splice_Site	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)						cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding	p.?(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					ATTAAACACCTGTGAGGACAG	0.473													3	77					0	0	0.115264	0	0	A	91549291	T	A	91549291	5	1	16	1	0	0	0	0	0	0	1	0	17262	1594	55	5	1050	5	VPS33B	15	91549291	Splice_Site	SNP	T	TCGA-CH-5761-01A-11D-1576-08	31984680	91549291	10982101	60	863											
PRM3	58531	broad.mit.edu	37	chr16	11367307	11367307	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcctcctcttcctcgcccGctgatgacaaggagaagtta	8	11	8	14	2	1	3	0	2	1	1	5	4	4	3	4	1	0	2	4	1	3	3			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr16:11367307G>A	ENST00000327157.2	-	1	145	c.146C>T	c.(145-147)gCg>gTg	p.A49V	RMI2_ENST00000572173.1_Intron	NM_021247.1	NP_067070.1	Q9NNZ6	PRM3_HUMAN	protamine 3	49					cell differentiation|chromosome condensation|multicellular organismal development|spermatogenesis	nucleosome|nucleus	DNA binding	p.0?(1)									ttcctcGCCCGCTGATGACAA	0.617													7	3					0	0	0.27861	0	0	A	11367307	G	A	11367307	3	1	16	1	0	0	0	0	1	0	0	0	12586	1087	38	1	166	1	PRM3	16	11367307	Missense_Mutation	SNP	G	TCGA-CH-5761-01A-11D-1576-08		11367307	78987446	61	864											
GPT2	84706	broad.mit.edu	37	chr16	46943652	46943652	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcacggacaggtgtgatgatCcccatcccacaatatcccct	10	9	7	15	1	1	2	1	2	0	0	4	3	4	3	5	2	0	0	5	2	2	1			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr16:46943652C>T	ENST00000440783.2	+	6	998	c.333C>T	c.(331-333)atC>atT	p.I111I	GPT2_ENST00000340124.4_Silent_p.I211I	NM_001142466.1	NP_001135938.1	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase (alanine aminotransferase) 2	211					2-oxoglutarate metabolic process|cellular amino acid biosynthetic process|L-alanine metabolic process	mitochondrial matrix	L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	p.I211I(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GTGTGATGATCCCCATCCCAC	0.537													118	81					0	0	0.870114	0	0	T	46943652	C	T	46943652	2	4	16	1	0	0	0	0	0	0	0	1	6779	845	30	2		2	GPT2	16	46943652	Silent	SNP	C	TCGA-CH-5761-01A-11D-1576-08	35576345	46943652	43411101	62	865											
ITFG1	81533	broad.mit.edu	37	chr16	47189674	47189674	+	Frame_Shift_Del	DEL	C	C	-																															gtgggcttcttgtcgtttttCtctatcatctgctttctgaa																										TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr16:47189674delC	ENST00000320640.6	-	18	2023	c.1795delG	c.(1795-1797)aafs	p.E599fs	RP11-329J18.2_ENST00000564705.1_RNA|RP11-329J18.2_ENST00000565694.1_RNA|ITFG1_ENST00000544001.2_3'UTR|ITFG1_ENST00000568047.1_5'UTR	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	599						extracellular region|integral to membrane				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				TGTCGTTTTTCTCTATCATCT	0.323													208	362	---	---	---	---						-	47189674	C	-	47189674	7	5	16	1	0	1	0	1	0	0	0	0	7913	922	32	0	47	0	ITFG1	16	47189674	Frame_Shift_Del	DEL	C	TCGA-CH-5761-01A-11D-1576-08	246022	47189674	43165079	63	866			5	6		2	2	17	N	C	3.772936e-05
ITFG1	81533	broad.mit.edu	37	chr16	47189690	47189690	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttctctatcatctgctttCtgaaaaagaattttagactc	11	18	4	8	0	4	3	1	1	3	2	6	3	4	3	0	0	1	1	0	0	5	6			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr16:47189690C>A	ENST00000320640.6	-	18	2008		c.e18-1		RP11-329J18.2_ENST00000565694.1_RNA|ITFG1_ENST00000544001.2_Splice_Site|RP11-329J18.2_ENST00000564705.1_RNA|ITFG1_ENST00000568047.1_Splice_Site	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1							extracellular region|integral to membrane		p.?(1)		breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				CATCTGCTTTCTGAAAAAGAA	0.333													132	275					4.54241e-80	5.89923e-80	0.870114	1	0	A	47189690	C	A	47189690	5	1	16	1	0	0	0	0	0	0	1	0	7913	927	32	4	63	4	ITFG1	16	47189690	Splice_Site	SNP	C	TCGA-CH-5761-01A-11D-1576-08	16	47189690	43165063	64	867			5	6		2	2	17	N	C	3.772936e-05
DVL2	1856	broad.mit.edu	37	chr17	7131298	7131299	+	Frame_Shift_Ins	INS	-	-	G																															ccctgagtgtcactcacttcINSgggggagagtgaaataggcc																								rs145282702		TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr17:7131298_7131299insG	ENST00000005340.5	-	10	1381_1382	c.1099_1100insC	c.(1099-1101)aaafs	p.K367fs	DVL2_ENST00000575458.1_Frame_Shift_Ins_p.K361fs	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	367					canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						TCACTCACTTCGGGGGAGAGTG	0.644													14	30	---	---	---	---						G	7131299	-	G	7131298	7	5	16	1	0	1	1	0	0	0	0	0	4862	884	31	0	1134	0	DVL2	17	7131298	Frame_Shift_Ins	INS	-	TCGA-CH-5761-01A-11D-1576-08		7131298	74063912	65	868											
TP53	7157	broad.mit.edu	37	chr17	7578526	7578526	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggtcttggccagttggCaaaacatcttgttgagggca	9	10	14	8	0	2	1	0	1	2	0	2	1	2	1	1	5	1	5	1	5	2	4			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr17:7578526C>A	ENST00000420246.2	-	5	536	c.404G>T	c.(403-405)tGc>tTc	p.C135F	TP53_ENST00000269305.4_Missense_Mutation_p.C135F|TP53_ENST00000413465.2_Missense_Mutation_p.C135F|TP53_ENST00000445888.2_Missense_Mutation_p.C135F|TP53_ENST00000359597.4_Missense_Mutation_p.C135F|TP53_ENST00000455263.2_Missense_Mutation_p.C135F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	135	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> T (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation; decreased E6-mediated binding to E6-AP).		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.C135Y(60)|p.C135F(43)|p.C135S(8)|p.0?(8)|p.C42Y(4)|p.C3Y(4)|p.C135fs*9(3)|p.N131fs*27(2)|p.C3F(2)|p.C42F(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.C135T(1)|p.V73fs*9(1)|p.C135fs*15(1)|p.C135fs*14(1)|p.Y126fs*11(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.C42S(1)|p.M133fs*13(1)|p.C3S(1)|p.C135_T140delCQLAKT(1)|p.Q136fs*13(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)		GGCCAGTTGGCAAAACATCTT	0.572		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)			23	30					4.26978e-12	5.20704e-12	0.654019	1	0	A	7578526	C	A	7578526	3	1	16	1	0	0	0	0	1	0	0	0	16442	710	25	4	894	4	TP53	17	7578526	Missense_Mutation	SNP	C	TCGA-CH-5761-01A-11D-1576-08	447228	7578526	73616684	66	869											
HOXB2	3212	broad.mit.edu	37	chr17	46622154	46622154	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ggaggaggaggaattaatgtCgactccttgattgatgaagt	12	11	14	4	1	0	3	0	3	0	0	2	8	1	7	1	4	0	0	1	4	3	3			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr17:46622154C>G	ENST00000330070.4	-	1	1287	c.120G>C	c.(118-120)tcG>tcC	p.S40S	HOXB-AS1_ENST00000504972.3_RNA|HOXB-AS1_ENST00000435312.1_RNA	NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN	homeobox B2	40					blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S40S(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						GAATTAATGTCGACTCCTTGA	0.557													11	126					0	0	0.411799	0	0	G	46622154	C	G	46622154	2	3	16	1	0	0	0	0	0	0	0	1	7342	871	31	4		4	HOXB2	17	46622154	Silent	SNP	C	TCGA-CH-5761-01A-11D-1576-08	39043628	46622154	34573056	67	870											
SERPINB2	5055	broad.mit.edu	37	chr18	61558743	61558743	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attcaagcatctggcaaaagCaagccccacccagaacctct	14	6	6	15	0	3	1	1	0	2	1	3	1	3	1	4	1	4	3	4	1	5	1			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr18:61558743C>G	ENST00000457692.1	+	3	398	c.65C>G	c.(64-66)gCa>gGa	p.A22G	SERPINB2_ENST00000299502.4_Missense_Mutation_p.A22G	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	22					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity	p.A22G(1)		NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	CTGGCAAAAGCAAGCCCCACC	0.502													41	36					0	0	0.827153	0	0	G	61558743	C	G	61558743	3	3	16	1	0	0	0	0	1	0	0	0	14155	710	25	4	67	4	SERPINB2	18	61558743	Missense_Mutation	SNP	C	TCGA-CH-5761-01A-11D-1576-08		61558743	16518505	68	871											
DUS3L	56931	broad.mit.edu	37	chr19	5787682	5787682	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcggctcagcagctcggcaCacttggtcatggtgtcgggg	5	9	16	11	3	2	0	2	0	0	0	4	0	2	0	0	6	3	4	0	6	0	1			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr19:5787682C>T	ENST00000309061.7	-	6	1226	c.1130G>A	c.(1129-1131)tGt>tAt	p.C377Y	DUS3L_ENST00000320699.8_Missense_Mutation_p.C135Y	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	377					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding	p.C377Y(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						CAGCTCGGCACACTTGGTCAT	0.627													64	139					0	0	0.870114	0	0	T	5787682	C	T	5787682	3	4	16	1	0	0	0	0	1	0	0	0	4833	478	17	2	854	2	DUS3L	19	5787682	Missense_Mutation	SNP	C	TCGA-CH-5761-01A-11D-1576-08		5787682	53341301	69	872											
AXL	558	broad.mit.edu	37	chr19	41763458	41763458	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaaaccccatatccgggcGtggagaacagcgagatttat	12	7	11	11	3	0	2	0	0	0	2	1	4	1	2	4	2	3	0	4	2	4	3			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr19:41763458G>A	ENST00000301178.4	+	19	2447	c.2257G>A	c.(2257-2259)Gtg>Atg	p.V753M	AXL_ENST00000593513.1_Missense_Mutation_p.V485M|AXL_ENST00000359092.3_Missense_Mutation_p.V744M	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	753	Protein kinase.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.V744M(2)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						ATATCCGGGCGTGGAGAACAG	0.567													63	137					0	0	0.870114	0	0	A	41763458	G	A	41763458	3	1	16	1	0	0	0	0	1	0	0	0	1236	1145	40	1	2331	1	AXL	19	41763458	Missense_Mutation	SNP	G	TCGA-CH-5761-01A-11D-1576-08	35975776	41763458	17365525	70	873											
SRMS	6725	broad.mit.edu	37	chr20	62172641	62172641	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacacgataattggccgcCtcaggcgctgtccacttgac	10	8	10	13	3	1	2	1	1	0	1	2	3	2	2	3	2	0	1	3	2	2	3			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr20:62172641C>G	ENST00000217188.1	-	7	1228	c.1188G>C	c.(1186-1188)gaG>gaC	p.E396D		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	396	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity	p.E396D(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			AATTGGCCGCCTCAGGCGCTG	0.617													45	229					0	0	0.870114	0	0	G	62172641	C	G	62172641	3	3	16	1	0	0	0	0	1	0	0	0	15208	680	24	4	286	4	SRMS	20	62172641	Missense_Mutation	SNP	C	TCGA-CH-5761-01A-11D-1576-08		62172641	852879	71	874											
GPR174	84636	broad.mit.edu	37	chrX	78426887	78426887	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacccctttcgcttccatgActgcaaacagaaatatgacc	12	10	6	13	1	0	3	0	2	0	1	2	3	1	3	4	0	3	3	4	0	4	4			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chrX:78426887A>G	ENST00000276077.1	+	1	419	c.383A>G	c.(382-384)gAc>gGc	p.D128G		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	128						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.D128G(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						CGCTTCCATGACTGCAAACAG	0.458										HNSCC(63;0.18)			124	63					0	0	0.870114	0	0	G	78426887	A	G	78426887	3	3	16	1	0	0	0	0	1	0	0	0	6712	275	10	3	385	3	GPR174	23	78426887	Missense_Mutation	SNP	A	TCGA-CH-5761-01A-11D-1576-08		78426887	76843673	72	875											
BTK	695	broad.mit.edu	37	chrX	100630266	100630266	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatgctctccagaatcactgCggccatagcttcttctttct	7	14	7	13	1	5	1	1	0	4	1	6	2	5	1	2	1	3	2	2	1	2	4			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chrX:100630266C>A	ENST00000308731.7	-	2	170	c.7G>T	c.(7-9)Gca>Tca	p.A3S	BTK_ENST00000372880.1_Missense_Mutation_p.A3S|BTK_ENST00000464567.1_5'UTR	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	3	PH.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding	p.A3S(3)		breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						AGAATCACTGCGGCCATAGCT	0.468									Agammaglobulinemia, X-linked				117	62					4.05427e-82	5.33457e-82	0.870114	1	0	A	100630266	C	A	100630266	3	1	16	1	0	0	0	0	1	0	0	0	1560	768	27	4	2044	4	BTK	23	100630266	Missense_Mutation	SNP	C	TCGA-CH-5761-01A-11D-1576-08	22203379	100630266	54640294	73	876											
PNMA5	114824	broad.mit.edu	37	chrX	152158951	152158951	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcccctagtgctttcacTgcctaacagccgcctgcgtt	5	13	7	16	2	2	0	1	0	1	0	3	0	2	0	5	0	5	2	5	0	2	5			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chrX:152158951T>G	ENST00000439251.1	-	2	1630	c.1192A>C	c.(1192-1194)Agt>Cgt	p.S398R	PNMA5_ENST00000535214.1_Missense_Mutation_p.S398R|PNMA5_ENST00000452693.1_Missense_Mutation_p.S398R|PNMA5_ENST00000361887.5_Missense_Mutation_p.S398R	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	398					apoptosis			p.S398R(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					GTGCTTTCACTGCCTAACAGC	0.597													74	42					0	0	0.870114	0	0	G	152158951	T	G	152158951	3	3	16	1	0	0	0	0	1	0	0	0	12204	1580	55	5	158	5	PNMA5	23	152158951	Missense_Mutation	SNP	T	TCGA-CH-5761-01A-11D-1576-08	51528685	152158951	3111609	74	877											
KIF1B	23095	broad.mit.edu	37	chr1	10292482	10292482	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcatcattcagatgcaaggCaactcgaccagtgagtacat	13	9	9	10	1	2	2	2	1	0	1	3	3	2	2	1	1	4	4	1	1	3	2			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr1:10292482C>T	ENST00000377086.1	+	2	298	c.96C>T	c.(94-96)ggC>ggT	p.G32G	KIF1B_ENST00000263934.6_Silent_p.G32G|KIF1B_ENST00000377083.1_Silent_p.G32G|KIF1B_ENST00000377093.4_Silent_p.G32G|KIF1B_ENST00000377081.1_Silent_p.G32G			O60333	KIF1B_HUMAN	kinesin family member 1B	32	Kinesin-motor.				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	p.G32G(2)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		AGATGCAAGGCAACTCGACCA	0.458													6	28					0	0	0.217242	0	0	T	10292482	C	T	10292482	2	4	17	1	0	0	0	0	0	0	0	1	8326	697	25	2		2	KIF1B	1	10292482	Silent	SNP	C	TCGA-CH-5762-01A-11D-1576-08		10292482	238958139	1	878											
MASP2	10747	broad.mit.edu	37	chr1	11090302	11090302	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccatcagcctcacacacatAtttacctgcaaatcattgga	13	11	4	13	0	3	0	3	0	0	0	4	1	4	1	3	1	3	1	3	1	3	4			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr1:11090302A>T	ENST00000400897.3	-	10	1243	c.1228T>A	c.(1228-1230)Tat>Aat	p.Y410N	RP4-635E18.8_ENST00000607145.1_RNA	NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	410	Sushi 2.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity	p.Y410N(1)		biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		TCACACACATATTTACCTGCA	0.393													23	139					0	0	0.639603	0	0	T	11090302	A	T	11090302	3	4	17	1	0	0	0	0	1	0	0	0	9373	449	16	5	840	5	MASP2	1	11090302	Missense_Mutation	SNP	A	TCGA-CH-5762-01A-11D-1576-08	797820	11090302	238160319	2	879											
HTR6	3362	broad.mit.edu	37	chr1	20005147	20005147	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaggccctgaaggccagcCtgacgctgggcatcctgctg	7	6	15	13	1	0	2	0	2	0	0	1	3	1	3	4	4	2	3	4	4	2	0			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr1:20005147C>A	ENST00000289753.1	+	2	1269	c.802C>A	c.(802-804)Ctg>Atg	p.L268M		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	268					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	GAAGGCCAGCCTGACGCTGGG	0.622													4	105					0.00024832	0.000270583	0.150653	1	0	A	20005147	C	A	20005147	3	1	17	1	0	0	0	0	1	0	0	0	7495	680	24	4	808	4	HTR6	1	20005147	Missense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08	8914845	20005147	229245474	3	880											
ZSWIM5	57643	broad.mit.edu	37	chr1	45484152	45484152	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagcgctctcgcaccagcaGcatcaactttttcttgcctt	9	12	6	14	2	3	0	1	0	2	0	4	0	3	0	2	0	5	4	2	0	2	4			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr1:45484152G>A	ENST00000359600.5	-	14	3737	c.3532C>T	c.(3532-3534)Ctg>Ttg	p.L1178L		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	1178							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CGCACCAGCAGCATCAACTTT	0.557											OREG0013450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	243					0	0	0.184627	0	0	A	45484152	G	A	45484152	2	1	17	1	0	0	0	0	0	0	0	1	18284	962	34	2		2	ZSWIM5	1	45484152	Silent	SNP	G	TCGA-CH-5762-01A-11D-1576-08	25479005	45484152	203766469	4	881											
GSTM2	2946	broad.mit.edu	37	chr1	110217403	110217403	+	Missense_Mutation	SNP	G	G	T																															ctctgcctacatgaagtccaGccgcttcctcccaagacctg																										TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr1:110217403G>T	ENST00000241337.4	+	8	652	c.602G>T	c.(601-603)aGc>aTc	p.S201I	GSTM2_ENST00000369831.2_Intron|GSTM2_ENST00000460717.3_Intron|GSTM2_ENST00000442650.1_Intron|GSTM2_ENST00000414179.2_Intron|GSTM2_ENST00000369827.3_Missense_Mutation_p.S162I	NM_000848.3	NP_000839.1			glutathione S-transferase mu 2 (muscle)									p.S201I(1)		kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	11		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)		ATGAAGTCCAGCCGCTTCCTC	0.577													20	137					5.61819e-17	6.57536e-17	0.693898	1	0	T	110217403	G	T	110217403	3	4	17	1	0	0	0	0	1	0	0	0	6879	971	34	4	632	4	GSTM2	1	110217403	Missense_Mutation	SNP	G	TCGA-CH-5762-01A-11D-1576-08	64733251	110217403	139033218	5	882	8	2									
GSTM2	2946	broad.mit.edu	37	chr1	110217413	110217413	+	Silent	SNP	C	C	G																															atgaagtccagccgcttcctCccaagacctgtgttcacaaa																										TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr1:110217413C>G	ENST00000241337.4	+	8	662	c.612C>G	c.(610-612)ctC>ctG	p.L204L	GSTM2_ENST00000369831.2_Intron|GSTM2_ENST00000460717.3_Intron|GSTM2_ENST00000442650.1_Intron|GSTM2_ENST00000414179.2_Intron|GSTM2_ENST00000369827.3_Silent_p.L165L	NM_000848.3	NP_000839.1			glutathione S-transferase mu 2 (muscle)									p.L204L(2)		kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	11		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)		GCCGCTTCCTCCCAAGACCTG	0.582													23	146					0	0	0.717897	0	0	G	110217413	C	G	110217413	2	3	17	1	0	0	0	0	0	0	0	1	6879	842	30	4		4	GSTM2	1	110217413	Silent	SNP	C	TCGA-CH-5762-01A-11D-1576-08	10	110217413	139033208	6	883	8	2									
EPRS	2058	broad.mit.edu	37	chr1	220205767	220205767	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaacatcccacttggtacCtactgactggaaggcctgct	10	10	9	12	0	0	2	0	2	0	0	1	3	1	3	3	3	4	2	3	3	4	3			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr1:220205767C>G	ENST00000366923.3	-	5	759	c.490G>C	c.(490-492)Ggt>Cgt	p.G164R		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	164	Glutamyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	CACTTGGTACCTACTGACTGG	0.438													4	127					0	0	0.150653	0	0	G	220205767	C	G	220205767	3	3	17	1	0	0	0	0	1	0	0	0	5219	681	24	4	4160	4	EPRS	1	220205767	Missense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08	109988354	220205767	29044854	7	884											
KIDINS220	57498	broad.mit.edu	37	chr2	8918770	8918770	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagccaatggcatcttaccCgtctattgagggctgtcttg	8	12	11	10	1	3	1	0	1	3	0	3	2	3	1	2	2	2	2	2	2	4	4			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:8918770C>T	ENST00000256707.3	-	20	2883	c.2703_splice	c.e20+1	p.R901_splice	KIDINS220_ENST00000319688.5_Splice_Site_p.R902_splice|KIDINS220_ENST00000427284.1_Splice_Site_p.R901_splice|KIDINS220_ENST00000473731.1_Splice_Site_p.R901_splice|KIDINS220_ENST00000418530.1_Splice_Site_p.R859_splice	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	901	KAP NTPase.				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GCATCTTACCCGTCTATTGAG	0.363													9	353					0	0	0.335167	0	0	T	8918770	C	T	8918770	5	4	17	1	0	0	0	0	0	0	1	0	8313	666	23	1	2657	1	KIDINS220	2	8918770	Splice_Site	SNP	C	TCGA-CH-5762-01A-11D-1576-08		8918770	234280603	8	885											
RTKN	6242	broad.mit.edu	37	chr2	74666743	74666743	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctccaggatgtgcaatctgtCctgcatctctgtgccccccg	5	11	9	16	1	2	0	0	0	2	0	5	1	4	1	5	1	3	2	5	1	1	0	rs112456374		TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:74666743C>T	ENST00000305557.5	-	2	592	c.7G>A	c.(7-9)Gac>Aac	p.D3N	RTKN_ENST00000272430.5_Intron|RTKN_ENST00000233330.6_Intron|RTKN_ENST00000484453.1_Intron	NM_033046.2	NP_149035.1	Q9BST9	RTKN_HUMAN	rhotekin	0					apoptosis|regulation of anti-apoptosis|Rho protein signal transduction	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity	p.D3N(1)		endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						TGCAATCTGTCCTGCATCTCT	0.577													11	48					0	0	0.361761	0	0	T	74666743	C	T	74666743	3	4	17	1	0	0	0	0	1	0	0	0	13774	855	30	2	1693	2	RTKN	2	74666743	Missense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08	65747973	74666743	168532630	9	886											
EIF2AK3	9451	broad.mit.edu	37	chr2	88870483	88870483	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaccgtctgctcttcctcaTcctggtccattgcagtcact	6	13	7	15	1	4	0	2	0	2	0	7	1	7	0	4	1	3	2	4	1	1	2			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:88870483T>A	ENST00000303236.3	-	14	3195	c.2894A>T	c.(2893-2895)gAt>gTt	p.D965V	EIF2AK3_ENST00000470706.1_5'UTR|EIF2AK3_ENST00000419748.1_Missense_Mutation_p.D814V|AC104134.2_ENST00000413234.1_RNA	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	965	Protein kinase.				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding	p.D965V(2)		ovary(3)	3						CTCTTCCTCATCCTGGTCCAT	0.463													39	252					0	0	0.812448	0	0	A	88870483	T	A	88870483	3	1	17	1	0	0	0	0	1	0	0	0	5024	1435	50	5	472	5	EIF2AK3	2	88870483	Missense_Mutation	SNP	T	TCGA-CH-5762-01A-11D-1576-08	14203740	88870483	154328890	10	887											
NPAS2	4862	broad.mit.edu	37	chr2	101591316	101591316	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	actttaacacactcgacgtgGgtgcctcgggccttaatacc	9	10	9	13	3	0	0	0	0	0	0	2	1	0	0	3	2	3	0	3	2	3	4			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:101591316G>A	ENST00000335681.5	+	13	1477	c.1192G>A	c.(1192-1194)Ggt>Agt	p.G398S	AC016738.3_ENST00000446644.1_RNA|AC016738.3_ENST00000439150.1_RNA|NPAS2_ENST00000542504.1_Missense_Mutation_p.G463S	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	398					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.G398S(1)		cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACTCGACGTGGGTGCCTCGGG	0.532													18	82					0	0	0.539581	0	0	A	101591316	G	A	101591316	3	1	17	1	0	0	0	0	1	0	0	0	10610	1232	43	2	1238	2	NPAS2	2	101591316	Missense_Mutation	SNP	G	TCGA-CH-5762-01A-11D-1576-08	12720833	101591316	141608057	11	888											
SLC20A1	6574	broad.mit.edu	37	chr2	113420507	113420507	+	Frame_Shift_Del	DEL	A	A	-																															ttgactggcgtctctttcgtAacatttttatggcctggttt																										TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:113420507delA	ENST00000272542.3	+	11	2484	c.1945delA	c.(1945-1947)acfs	p.N649fs		NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	649					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						TCTCTTTCGTAACATTTTTAT	0.478													37	238	---	---	---	---						-	113420507	A	-	113420507	7	5	17	1	0	1	0	1	0	0	0	0	14493	362	13	0	1983	0	SLC20A1	2	113420507	Frame_Shift_Del	DEL	A	TCGA-CH-5762-01A-11D-1576-08	11829191	113420507	129778866	12	889											
LIMS2	55679	broad.mit.edu	37	chr2	128399723	128399723	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatcttgtcatggcagggCaggcagtagagctcaccctt	8	9	11	13	0	3	1	2	0	1	1	3	1	3	1	2	3	1	5	2	3	1	3			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:128399723C>A	ENST00000409455.1	-	6	1181	c.546G>T	c.(544-546)ctG>ctT	p.L182L	LIMS2_ENST00000410011.1_Silent_p.L182L|LIMS2_ENST00000410038.1_Silent_p.L35L|LIMS2_ENST00000409754.1_Silent_p.L35L|LIMS2_ENST00000409254.1_Silent_p.L35L|LIMS2_ENST00000355119.4_Silent_p.L187L|LIMS2_ENST00000545738.2_Silent_p.L209L|LIMS2_ENST00000324938.5_Silent_p.L211L|LIMS2_ENST00000409286.1_Silent_p.L35L|LIMS2_ENST00000409808.2_Silent_p.L182L			Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	187	LIM zinc-binding 3.				cell junction assembly	cytosol|focal adhesion|nucleus	zinc ion binding	p.L211L(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		CATGGCAGGGCAGGCAGTAGA	0.692													7	17					0.0381472	0.0404514	0.27861	1	0	A	128399723	C	A	128399723	2	1	17	1	0	0	0	0	0	0	0	1	8844	697	25	4		4	LIMS2	2	128399723	Silent	SNP	C	TCGA-CH-5762-01A-11D-1576-08	14979216	128399723	114799650	13	890											
LY75	4065	broad.mit.edu	37	chr2	160710869	160710869	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaatatattcttttaaattAcatttgctattttgtttttg	12	23	3	3	0	1	0	0	0	1	0	1	0	1	0	0	0	2	2	0	0	8	12			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:160710869A>T	ENST00000263636.4	-	18	2623		c.e18+1		LY75_ENST00000554112.1_Splice_Site|LY75-CD302_ENST00000505052.1_Splice_Site|LY75-CD302_ENST00000504764.1_Splice_Site|LY75_ENST00000553424.1_Splice_Site	NM_002349.3	NP_002340.2			lymphocyte antigen 75									p.?(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		cttttaaattaCATTTGCTAT	0.254													5	73					0	0	0.184627	0	0	T	160710869	A	T	160710869	5	4	17	1	0	0	0	0	0	0	1	0	9145	405	14	5	2643	5	LY75	2	160710869	Splice_Site	SNP	A	TCGA-CH-5762-01A-11D-1576-08	32311146	160710869	82488504	14	891											
ITGA6	0	broad.mit.edu	37	chr2	173349859	173349859	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttcatgcaggataatatcaGagataaactgcgtcccattc	13	12	7	9	1	2	1	2	0	0	1	4	3	3	2	1	1	3	1	1	1	4	5			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:173349859G>C	ENST00000375221.2	+	14	2041	c.1838G>C	c.(1837-1839)aGa>aCa	p.R613T	ITGA6_ENST00000409080.1_Missense_Mutation_p.R574T|AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000409532.1_Missense_Mutation_p.R455T|ITGA6_ENST00000264106.6_Missense_Mutation_p.R613T|ITGA6_ENST00000343713.4_Missense_Mutation_p.R569T|ITGA6_ENST00000264107.7_Missense_Mutation_p.R574T			P23229	ITA6_HUMAN	integrin, alpha 6	613					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			GATAATATCAGAGATAAACTG	0.428													6	171					0	0	0.217242	0	0	C	173349859	G	C	173349859	3	2	17	1	0	0	0	0	1	0	0	0	7924	942	33	4	1771	4	ITGA6	2	173349859	Missense_Mutation	SNP	G	TCGA-CH-5762-01A-11D-1576-08	12638990	173349859	69849514	15	892											
STAT4	6775	broad.mit.edu	37	chr2	191897839	191897839	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcagagcagacaaccggcctTtattgtagggttctacagag	11	9	12	9	1	1	3	0	0	1	3	1	3	1	3	2	2	3	4	2	2	4	6			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:191897839T>G	ENST00000392320.2	-	21	2203	c.1889A>C	c.(1888-1890)aAa>aCa	p.K630T	STAT4_ENST00000358470.4_Missense_Mutation_p.K630T	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	630	SH2.				JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			CAACCGGCCTTTATTGTAGGG	0.423													3	128					0	0	0.115264	0	0	G	191897839	T	G	191897839	3	3	17	1	0	0	0	0	1	0	0	0	15323	1841	64	5	373	5	STAT4	2	191897839	Missense_Mutation	SNP	T	TCGA-CH-5762-01A-11D-1576-08	18547980	191897839	51301534	16	893											
MARS2	92935	broad.mit.edu	37	chr2	198571112	198571112	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgccttcctgttaggggccgGcatgagcccgccacagcgca	6	7	13	15	3	0	1	0	1	0	0	1	1	1	1	5	3	3	3	5	3	1	2			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:198571112G>A	ENST00000282276.6	+	1	1026	c.983G>A	c.(982-984)gGc>gAc	p.G328D	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	328					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity	p.G328D(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	TTAGGGGCCGGCATGAGCCCG	0.542													7	387					0	0	0.248553	0	0	A	198571112	G	A	198571112	3	1	17	1	0	0	0	0	1	0	0	0	9367	1203	42	2	985	2	MARS2	2	198571112	Missense_Mutation	SNP	G	TCGA-CH-5762-01A-11D-1576-08	6673273	198571112	44628261	17	894											
ICA1L	130026	broad.mit.edu	37	chr2	203661648	203661648	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaactgaggtgctccaaatTctctcatttgagaatgtttt	12	15	7	7	0	2	2	1	2	1	1	4	3	3	2	1	1	2	2	1	1	4	4			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:203661648T>A	ENST00000392237.2	-	11	1107	c.950A>T	c.(949-951)gAa>gTa	p.E317V	ICA1L_ENST00000358299.2_Missense_Mutation_p.E317V	NM_138468.4	NP_612477.3	Q8NDH6	ICA1L_HUMAN	islet cell autoantigen 1,69kDa-like	317								p.E317V(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGCTCCAAATTCTCTCATTTG	0.279													11	86					0	0	0.38729	0	0	A	203661648	T	A	203661648	3	1	17	1	0	0	0	0	1	0	0	0	7522	1783	62	5	514	5	ICA1L	2	203661648	Missense_Mutation	SNP	T	TCGA-CH-5762-01A-11D-1576-08	5090536	203661648	39537725	18	895											
FZD5	7855	broad.mit.edu	37	chr2	208632596	208632596	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacgctggcatggcccacgaCcagacgcaccaggaagccca	11	2	11	17	3	0	1	0	0	0	1	0	3	0	2	4	3	1	3	4	3	1	0			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:208632596C>G	ENST00000295417.3	-	2	1421	c.868G>C	c.(868-870)Gtc>Ctc	p.V290L		NM_003468.3	NP_003459.2	Q13467	FZD5_HUMAN	frizzled family receptor 5	290					angiogenesis|anterior/posterior axis specification, embryo|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to molecule of bacterial origin|embryonic camera-type eye development|gonad development|labyrinthine layer blood vessel development|positive regulation of interferon-gamma production|positive regulation of transcription from RNA polymerase II promoter|post-embryonic camera-type eye development|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell projection|cell surface|Golgi membrane|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|protein kinase binding|Wnt-protein binding	p.V290L(2)		NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1)	7				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)		TGGCCCACGACCAGACGCACC	0.622													4	19					0	0	0.150653	0	0	G	208632596	C	G	208632596	3	3	17	1	0	0	0	0	1	0	0	0	6168	507	18	4	893	4	FZD5	2	208632596	Missense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08	4970948	208632596	34566777	19	896											
PTH2R	5746	broad.mit.edu	37	chr2	209302260	209302260	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttaatttttttttctcattAgaaggtaattgtttccctga	9	22	5	5	0	1	2	1	1	1	1	3	2	2	2	1	1	0	2	1	1	4	10			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:209302260A>T	ENST00000272847.2	+	3	391		c.e3-1		PTH2R_ENST00000413482.1_Splice_Site	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor							integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		TTTTCTCATTAGAAGGTAATT	0.348													4	141					0	0	0.150653	0	0	T	209302260	A	T	209302260	5	4	17	1	0	0	0	0	0	0	1	0	12810	434	15	5	187	5	PTH2R	2	209302260	Splice_Site	SNP	A	TCGA-CH-5762-01A-11D-1576-08	669664	209302260	33897113	20	897											
NDUFA10	4705	broad.mit.edu	37	chr2	240960668	240960668	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgcagcaggcgactgctgtAcaaccaggactgcaggcggt	9	6	14	12	2	0	0	0	0	0	0	0	2	0	1	1	4	6	5	1	4	2	1			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr2:240960668A>G	ENST00000252711.2	-	3	506	c.406T>C	c.(406-408)Tac>Cac	p.Y136H	NDUFA10_ENST00000407129.3_Missense_Mutation_p.Y136H|NDUFA10_ENST00000307300.4_Missense_Mutation_p.Y136H|NDUFA10_ENST00000404554.1_Missense_Mutation_p.Y136H	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	136					mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	NADH(DB00157)	CGACTGCTGTACAACCAGGAC	0.498											OREG0015348	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	97					0	0	0.115264	0	0	G	240960668	A	G	240960668	3	3	17	1	0	0	0	0	1	0	0	0	10307	391	14	3	693	3	NDUFA10	2	240960668	Missense_Mutation	SNP	A	TCGA-CH-5762-01A-11D-1576-08	31658408	240960668	2238705	21	898											
CCR4	1233	broad.mit.edu	37	chr3	32995672	32995672	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgtggtggtcctcttccttgGgttctggacaccttacaaca	6	13	10	12	1	2	0	0	0	2	0	4	1	4	1	3	4	2	1	3	4	2	4			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr3:32995672G>T	ENST00000330953.5	+	2	926	c.758G>T	c.(757-759)gGg>gTg	p.G253V		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	253					chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane				NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						CTCTTCCTTGGGTTCTGGACA	0.468													4	112					0.00024832	0.000270583	0.150653	1	0	T	32995672	G	T	32995672	3	4	17	1	0	0	0	0	1	0	0	0	2965	1232	43	4	760	4	CCR4	3	32995672	Missense_Mutation	SNP	G	TCGA-CH-5762-01A-11D-1576-08		32995672	165026758	22	899											
DNAH12	201625	broad.mit.edu	37	chr3	57488129	57488129	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtatcaacagcccagtgtaaCacgtgttcaggaagttctgt	11	11	10	9	1	3	0	2	0	1	0	3	1	3	1	1	1	3	4	1	1	4	4			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr3:57488129C>T	ENST00000351747.2	-	10	1344	c.1164G>A	c.(1162-1164)gtG>gtA	p.V388V	DNAH12_ENST00000389536.4_Silent_p.V388V|DNAH12_ENST00000311202.6_Silent_p.V388V	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	388	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.V388V(2)		breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						CCCAGTGTAACACGTGTTCAG	0.388													48	224					0	0	0.864702	0	0	T	57488129	C	T	57488129	2	4	17	1	0	0	0	0	0	0	0	1	4628	465	17	2		2	DNAH12	3	57488129	Silent	SNP	C	TCGA-CH-5762-01A-11D-1576-08	24492457	57488129	140534301	23	900											
UBA5	79876	broad.mit.edu	37	chr3	132394111	132394111	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtttctgttaaattttggtActgttagtttttaccttgga	7	21	9	4	0	1	0	0	0	1	0	1	1	1	1	1	3	2	5	1	3	5	10			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr3:132394111A>T	ENST00000356232.4	+	9	1904	c.832A>T	c.(832-834)Act>Tct	p.T278S	UBA5_ENST00000493720.2_Missense_Mutation_p.T278S|UBA5_ENST00000473651.1_Missense_Mutation_p.T278S|UBA5_ENST00000494238.2_Missense_Mutation_p.T222S|UBA5_ENST00000264991.4_Missense_Mutation_p.T222S	NM_024818.3	NP_079094.1	Q9GZZ9	UBA5_HUMAN	ubiquitin-like modifier activating enzyme 5	278					protein ufmylation	aggresome|cytoplasm|nucleus	ATP binding|cofactor binding|metal ion binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding|UFM1 activating enzyme activity			breast(2)|endometrium(4)|kidney(4)|large_intestine(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						AAATTTTGGTACTGTTAGTTT	0.294													4	85					0	0	0.150653	0	0	T	132394111	A	T	132394111	3	4	17	1	0	0	0	0	1	0	0	0	16891	391	14	5	866	5	UBA5	3	132394111	Missense_Mutation	SNP	A	TCGA-CH-5762-01A-11D-1576-08	74905982	132394111	65628319	24	901											
SLCO2A1	6578	broad.mit.edu	37	chr3	133672578	133672578	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gcaggtacccgaaagccggtCcaaatacagagatggcaaat	15	5	11	10	2	0	1	0	0	0	1	1	3	1	1	3	3	3	3	3	3	5	2			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr3:133672578C>G	ENST00000310926.4	-	5	926	c.653G>C	c.(652-654)gGa>gCa	p.G218A	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.G142A	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	218					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						GAAAGCCGGTCCAAATACAGA	0.517													3	73					0	0	0.115264	0	0	G	133672578	C	G	133672578	3	3	17	1	0	0	0	0	1	0	0	0	14781	855	30	4	1318	4	SLCO2A1	3	133672578	Missense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08	1278467	133672578	64349852	25	902											
FAM193A	8603	broad.mit.edu	37	chr4	2691264	2691264	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacctgttcagaatcacaCaaataagcatcaggtattca	16	9	6	10	0	4	1	4	0	0	1	4	1	4	1	1	1	2	4	1	1	4	4			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr4:2691264C>A	ENST00000324666.5	+	12	1841	c.1490C>A	c.(1489-1491)aCa>aAa	p.T497K	FAM193A_ENST00000505311.1_Missense_Mutation_p.T497K|FAM193A_ENST00000502458.1_Missense_Mutation_p.T519K|FAM193A_ENST00000545951.1_Missense_Mutation_p.T497K|FAM193A_ENST00000382839.3_Missense_Mutation_p.T497K	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	497										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						CAGAATCACACAAATAAGCAT	0.328													5	151					0.0215528	0.0231656	0.217242	1	0	A	2691264	C	A	2691264	3	1	17	1	0	0	0	0	1	0	0	0	5556	478	17	4	1528	4	FAM193A	4	2691264	Missense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08		2691264	188463012	26	903											
PTPN13	0	broad.mit.edu	37	chr4	87671632	87671632	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttccttgtagagagagcttCgtttaggagcctgaatctcc	8	14	10	9	1	1	3	0	1	1	2	4	5	2	4	3	1	2	3	3	1	3	6			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr4:87671632C>T	ENST00000436978.1	+	18	3140	c.2660C>T	c.(2659-2661)tCg>tTg	p.S887L	PTPN13_ENST00000427191.2_Missense_Mutation_p.S887L|PTPN13_ENST00000316707.6_Intron|PTPN13_ENST00000411767.2_Missense_Mutation_p.S887L|PTPN13_ENST00000511467.1_Missense_Mutation_p.S887L	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)	887						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity	p.S887L(2)		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)		GAGAGAGCTTCGTTTAGGAGC	0.413													13	406					0	0	0.457914	0	0	T	87671632	C	T	87671632	3	4	17	1	0	0	0	0	1	0	0	0	12832	893	31	1	2726	1	PTPN13	4	87671632	Missense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08	84980368	87671632	103482644	27	904											
GPRIN3	285513	broad.mit.edu	37	chr4	90170165	90170165	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agagctccagtgtgtggctcCcactgctgtggcaaatgaca	9	9	12	11	0	0	2	0	1	0	1	2	2	2	2	2	2	2	4	2	2	1	0			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr4:90170165C>T	ENST00000333209.3	-	2	1615	c.1097G>A	c.(1096-1098)gGg>gAg	p.G366E		NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	366								p.G366E(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		TGTGTGGCTCCCACTGCTGTG	0.582													34	158					0	0	0.769981	0	0	T	90170165	C	T	90170165	3	4	17	1	0	0	0	0	1	0	0	0	6772	623	22	2	1237	2	GPRIN3	4	90170165	Missense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08	2498533	90170165	100984111	28	905											
FAT1	2195	broad.mit.edu	37	chr4	187629931	187629931	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaagtcacgtgaatgacttTaacagaagagaactggggcg	15	7	13	6	2	1	5	1	2	0	3	1	6	1	5	0	2	2	0	0	2	5	2			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr4:187629931T>C	ENST00000441802.2	-	2	1260	c.1051A>G	c.(1051-1053)Aaa>Gaa	p.K351E		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	351					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	p.K351E(3)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGAATGACTTTAACAGAAGAG	0.458										HNSCC(5;0.00058)			44	242					0	0	0.847076	0	0	C	187629931	T	C	187629931	3	2	17	1	0	0	0	0	1	0	0	0	5722	1763	61	3	12819	3	FAT1	4	187629931	Missense_Mutation	SNP	T	TCGA-CH-5762-01A-11D-1576-08	97459766	187629931	3524345	29	906											
CCNJL	79616	broad.mit.edu	37	chr5	159680605	159680605	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcaggctccctgaacggtggGcctgcaaggagtcccgatag	8	6	15	12	2	0	1	0	1	0	0	2	3	2	2	3	4	2	3	3	4	3	1			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr5:159680605G>T	ENST00000393977.3	-	7	1373	c.1088C>A	c.(1087-1089)gCc>gAc	p.A363D	CCNJL_ENST00000377503.2_5'UTR|CCNJL_ENST00000257536.7_Missense_Mutation_p.A315D	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	cyclin J-like	363						nucleus		p.A363D(2)		endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGAACGGTGGGCCTGCAAGGA	0.667													8	134					0.0381472	0.0404514	0.27861	1	0	T	159680605	G	T	159680605	3	4	17	1	0	0	0	0	1	0	0	0	2951	1203	42	4	223	4	CCNJL	5	159680605	Missense_Mutation	SNP	G	TCGA-CH-5762-01A-11D-1576-08		159680605	21234655	30	907											
HIST1H2BG	8339	broad.mit.edu	37	chr6	26216797	26216799	+	In_Frame_Del	DEL	CTT	CTT	-																															cgcttgcgcttcttgccatcCttcttctgcgccttggtcac																										TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr6:26216797_26216799delCTT	ENST00000244601.3	-	1	73_75	c.73_75delAAG	c.(73-75)del	p.K25del		NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bg	25					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				TCTTGCCATCCTTCTTCTGCGCC	0.517													9	352	---	---	---	---						-	26216799	CTT	-	26216797	7	5	17	1	0	1	0	1	0	0	0	0	7187	680	24	0	309	0	HIST1H2BG	6	26216797	In_Frame_Del	DEL	CTT	TCGA-CH-5762-01A-11D-1576-08		26216797	144898270	31	908											
GPR111	222611	broad.mit.edu	37	chr6	47650245	47650245	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccattgtgagaatcagcaaGaacatcgccatcctcacacc	13	7	7	14	1	2	2	2	1	0	2	4	3	3	2	4	0	2	1	4	0	3	1			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr6:47650245G>A	ENST00000398742.2	+	5	1795	c.1746G>A	c.(1744-1746)aaG>aaA	p.K582K	GPR111_ENST00000296862.1_Silent_p.K650K|GPR111_ENST00000507065.1_Silent_p.K582K			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	650					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GAATCAGCAAGAACATCGCCA	0.507													7	104					0	0	0.248553	0	0	A	47650245	G	A	47650245	2	1	17	1	0	0	0	0	0	0	0	1	6668	933	33	2		2	GPR111	6	47650245	Silent	SNP	G	TCGA-CH-5762-01A-11D-1576-08	21433448	47650245	123464822	32	909											
DDX43	55510	broad.mit.edu	37	chr6	74107454	74107454	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaatatacaaagtacaacaaAcaccacaatccaagtaagcc	21	5	4	11	0	0	0	0	0	0	0	1	1	1	0	3	0	5	2	3	0	10	4			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr6:74107454A>C	ENST00000370336.4	+	2	451	c.293A>C	c.(292-294)aAc>aCc	p.N98T	DDX43_ENST00000539829.1_Missense_Mutation_p.N98T	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	98	KH.					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						AGTACAACAAACACCACAATC	0.333													3	112					0	0	0.150653	0	0	C	74107454	A	C	74107454	3	2	17	1	0	0	0	0	1	0	0	0	4386	43	2	5	299	5	DDX43	6	74107454	Missense_Mutation	SNP	A	TCGA-CH-5762-01A-11D-1576-08	26457209	74107454	97007613	33	910											
CYB5R4	51167	broad.mit.edu	37	chr6	84649905	84649905	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaatactgaattatgctttGactgatatacccagtctcag	14	13	6	8	0	1	3	1	3	1	0	2	3	1	3	1	0	3	1	1	0	7	5			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr6:84649905G>C	ENST00000369681.4	+	13	1379	c.1239G>C	c.(1237-1239)ttG>ttC	p.L413F	CYB5R4_ENST00000479164.1_3'UTR	NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	413					cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity	p.L413F(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		ATTATGCTTTGACTGATATAC	0.333													31	166					0	0	0.769981	0	0	C	84649905	G	C	84649905	3	2	17	1	0	0	0	0	1	0	0	0	4152	1281	45	4	1289	4	CYB5R4	6	84649905	Missense_Mutation	SNP	G	TCGA-CH-5762-01A-11D-1576-08	10542451	84649905	86465162	34	911											
PLEKHA8	84725	broad.mit.edu	37	chr7	30102304	30102304	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagaggtctcaaatttttgAagggatttttgacagaagtg	12	15	11	3	0	1	4	1	2	1	2	2	5	1	5	0	2	0	0	0	2	4	5			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr7:30102304A>C	ENST00000449726.1	+	12	1596	c.1246A>C	c.(1246-1248)Aag>Cag	p.K416Q	PLEKHA8_ENST00000396257.2_Missense_Mutation_p.K416Q|PLEKHA8_ENST00000396259.1_Missense_Mutation_p.K416Q|PLEKHA8_ENST00000258679.7_Missense_Mutation_p.K416Q	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	416					protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity	p.K416Q(2)		breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						CAAATTTTTGAAGGGATTTTT	0.343													17	139					0	0	0.539581	0	0	C	30102304	A	C	30102304	3	2	17	1	0	0	0	0	1	0	0	0	12110	247	9	5	1292	5	PLEKHA8	7	30102304	Missense_Mutation	SNP	A	TCGA-CH-5762-01A-11D-1576-08		30102304	129036359	35	912											
PDE1C	5137	broad.mit.edu	37	chr7	31862740	31862740	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgtgcaccacttccgtcCaagtagctttaaagctctta	10	13	7	11	1	1	1	0	1	1	0	3	1	3	1	3	0	3	4	3	0	5	5			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr7:31862740C>G	ENST00000396184.3	-	15	1733	c.1529G>C	c.(1528-1530)tGg>tCg	p.W510S	PDE1C_ENST00000396193.1_Missense_Mutation_p.W570S|PDE1C_ENST00000321453.7_Missense_Mutation_p.W510S|PDE1C_ENST00000396191.1_Missense_Mutation_p.W510S|PDE1C_ENST00000396182.2_Missense_Mutation_p.W510S	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	510	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.W510S(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			CACTTCCGTCCAAGTAGCTTT	0.488													31	286					0	0	0.788014	0	0	G	31862740	C	G	31862740	3	3	17	1	0	0	0	0	1	0	0	0	11682	595	21	4	391	4	PDE1C	7	31862740	Missense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08	1760436	31862740	127275923	36	913											
STK17A	9263	broad.mit.edu	37	chr7	43659292	43659292	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagaacagtgaagagctcCgagaaattatgggtacccct	14	8	11	8	1	0	5	0	2	0	3	1	6	1	5	3	1	3	2	3	1	6	2	rs149915695		TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr7:43659292C>T	ENST00000319357.5	+	4	840	c.661C>T	c.(661-663)Cga>Tga	p.R221*	STK17A_ENST00000462448.1_3'UTR	NM_004760.2	NP_004751.2	Q9UEE5	ST17A_HUMAN	serine/threonine kinase 17a	221	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity	p.R221*(2)		autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						TGAAGAGCTCCGAGAAATTAT	0.403													48	388					0	0	0.870114	0	0	T	43659292	C	T	43659292	4	4	17	1	0	0	0	0	0	1	0	0	15346	644	23	1	675	1	STK17A	7	43659292	Nonsense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08	11796552	43659292	115479371	37	914											
SEPT14	346288	broad.mit.edu	37	chr7	55874871	55874871	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcatagtgctgagtgtgggTtttttcttttagattttcca	6	21	9	5	0	2	2	1	1	1	1	3	2	3	2	1	1	1	2	1	1	2	9			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr7:55874871T>C	ENST00000388975.3	-	8	1014	c.898A>G	c.(898-900)Acc>Gcc	p.T300A		NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	300					cell cycle|cell division	septin complex	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGAGTGTGGGTTTTTTCTTTT	0.353													5	194					0	0	0.217242	0	0	C	55874871	T	C	55874871	3	2	17	1	0	0	0	0	1	0	0	0	14117	1725	60	3	412	3	SEPT14	7	55874871	Missense_Mutation	SNP	T	TCGA-CH-5762-01A-11D-1576-08	12215579	55874871	103263792	38	915											
SEMA3C	10512	broad.mit.edu	37	chr7	80432076	80432076	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccacttgttgacaaggctaCgcagtccaccagtgtcattc	9	11	8	13	1	1	1	1	1	0	0	4	1	3	1	3	1	1	3	3	1	2	4			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr7:80432076C>G	ENST00000265361.3	-	9	1382	c.821G>C	c.(820-822)cGt>cCt	p.R274P	SEMA3C_ENST00000544525.1_Missense_Mutation_p.R292P|SEMA3C_ENST00000536800.1_Missense_Mutation_p.R126P|SEMA3C_ENST00000419255.2_Missense_Mutation_p.R274P	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	274	Sema.				immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GACAAGGCTACGCAGTCCACC	0.398													6	151					0	0	0.217242	0	0	G	80432076	C	G	80432076	3	3	17	1	0	0	0	0	1	0	0	0	14080	536	19	4	1474	4	SEMA3C	7	80432076	Missense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08	24557205	80432076	78706587	39	916											
KIAA1324L	222223	broad.mit.edu	37	chr7	86539226	86539226	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgactggcatacaaatgccCctaccaaatttgtgtaatca	13	12	6	10	0	1	1	1	1	0	0	1	1	1	1	3	1	3	2	3	1	5	5	rs139786503	byFrequency	TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr7:86539226C>T	ENST00000450689.2	-	16	2446	c.2261G>A	c.(2260-2262)gGg>gAg	p.G754E	KIAA1324L_ENST00000444627.1_Missense_Mutation_p.G683E|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.G587E|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.G514E	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	754						integral to membrane		p.G514E(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					TACAAATGCCCCTACCAAATT	0.398													21	121					0	0	0.575678	0	0	T	86539226	C	T	86539226	3	4	17	1	0	0	0	0	1	0	0	0	8266	623	22	2	856	2	KIAA1324L	7	86539226	Missense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08	6107150	86539226	72599437	40	917											
KIAA1324L	222223	broad.mit.edu	37	chr7	86541390	86541390	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgacagccagaactcacctCatgcccacataaactgatat	14	9	5	13	0	2	3	2	2	0	1	2	3	2	3	3	0	4	0	3	0	4	3			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr7:86541390C>T	ENST00000450689.2	-	15	2352	c.2167G>A	c.(2167-2169)Gag>Aag	p.E723K	KIAA1324L_ENST00000444627.1_Missense_Mutation_p.E652K|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.E556K|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.E483K	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	723						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					GAACTCACCTCATGCCCACAT	0.413													10	237					0	0	0.335167	0	0	T	86541390	C	T	86541390	3	4	17	1	0	0	0	0	1	0	0	0	8266	835	29	2	954	2	KIAA1324L	7	86541390	Missense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08	2164	86541390	72597273	41	918											
SLC25A40	55972	broad.mit.edu	37	chr7	87476439	87476439	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcacagttactgcaccaacTaatacaaacaagttaaaaaa	21	8	3	9	0	1	0	1	0	0	0	1	0	1	0	1	0	5	3	1	0	9	4			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr7:87476439T>A	ENST00000341119.5	-	8	804		c.e8-2			NM_018843.3	NP_061331.2	Q8TBP6	S2540_HUMAN	solute carrier family 25, member 40						transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17	Esophageal squamous(14;0.00202)					CTGCACCAACTAATACAAACA	0.303													6	312					0	0	0.248553	0	0	A	87476439	T	A	87476439	5	1	17	1	0	0	0	0	0	0	1	0	14560	1536	53	5	580	5	SLC25A40	7	87476439	Splice_Site	SNP	T	TCGA-CH-5762-01A-11D-1576-08	935049	87476439	71662224	42	919											
FSCN3	29999	broad.mit.edu	37	chr7	127235734	127235734	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgggtggacgcagcagttcCctgcctggaggagtgtggct	5	9	17	10	1	0	0	0	0	0	0	1	3	1	3	2	5	2	4	2	5	0	1			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr7:127235734C>G	ENST00000265825.5	+	2	737	c.518C>G	c.(517-519)cCc>cGc	p.P173R	FSCN3_ENST00000420086.2_Missense_Mutation_p.P39R	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)	173						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging	p.P173R(1)		endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						GCAGCAGTTCCCTGCCTGGAG	0.602													24	128					0	0	0.681144	0	0	G	127235734	C	G	127235734	3	3	17	1	0	0	0	0	1	0	0	0	6104	623	22	4	524	4	FSCN3	7	127235734	Missense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08	39759295	127235734	31902929	43	920											
TRPA1	8989	broad.mit.edu	37	chr8	72936093	72936099	+	Frame_Shift_Del	DEL	ATTTGGT	ATTTGGT	-																															atttctaaagatttatcagcAtttggtatttcttgtcttat																										TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr8:72936093_72936099delATTTGGT	ENST00000262209.4	-	26	3306_3312	c.3099_3105delACCAAAT	c.(3097-3105)atfs	p.IPN1033fs	RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000537896.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	1033						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	ATTTATCAGCATTTGGTATTTCTTGTC	0.266													11	109	---	---	---	---						-	72936099	ATTTGGT	-	72936093	7	5	17	1	0	1	0	1	0	0	0	0	16638	214	8	0	262	0	TRPA1	8	72936093	Frame_Shift_Del	DEL	ATTTGGT	TCGA-CH-5762-01A-11D-1576-08		72936093	73427929	44	921											
HNF4G	3174	broad.mit.edu	37	chr8	76456145	76456145	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaggaaaacactatggggCatccagctgtgatgggtgca	13	7	13	8	0	0	1	0	1	0	0	1	2	1	2	1	4	4	3	1	4	4	1			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr8:76456145C>A	ENST00000396423.2	+	2	312	c.188C>A	c.(187-189)gCa>gAa	p.A63E	HNF4G_ENST00000354370.1_Missense_Mutation_p.A26E	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	26					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.A26E(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			CACTATGGGGCATCCAGCTGT	0.468													39	179					1.59361e-14	1.8514e-14	0.827153	1	0	A	76456145	C	A	76456145	3	1	17	1	0	0	0	0	1	0	0	0	7295	710	25	4	194	4	HNF4G	8	76456145	Missense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08	3520052	76456145	69907877	45	922											
RIPK2	8767	broad.mit.edu	37	chr8	90802606	90802606	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatacttgtggtttctagaTcaccatctttaaatttactt	12	18	4	7	0	3	1	1	0	2	1	3	1	3	1	1	1	2	1	1	1	6	9			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr8:90802606T>C	ENST00000220751.4	+	11	1899	c.1585T>C	c.(1585-1587)Tca>Cca	p.S529P	RIPK2_ENST00000540020.1_Missense_Mutation_p.S392P	NM_003821.5	NP_003812.1	O43353	RIPK2_HUMAN	receptor-interacting serine-threonine kinase 2	529					activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10			BRCA - Breast invasive adenocarcinoma(11;0.0474)			GGTTTCTAGATCACCATCTTT	0.313													7	111					0	0	0.27861	0	0	C	90802606	T	C	90802606	3	2	17	1	0	0	0	0	1	0	0	0	13433	1435	50	3	1627	3	RIPK2	8	90802606	Missense_Mutation	SNP	T	TCGA-CH-5762-01A-11D-1576-08	14346461	90802606	55561416	46	923											
RUNX1T1	862	broad.mit.edu	37	chr8	93017401	93017401	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagaagcagctctgaggagTcaacaggtgaggtggtgctg	10	7	17	7	1	2	3	1	2	1	1	2	5	2	4	0	4	4	3	0	4	2	0			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr8:93017401T>C	ENST00000523629.1	-	6	1137	c.683A>G	c.(682-684)gAc>gGc	p.D228G	RUNX1T1_ENST00000521553.1_Missense_Mutation_p.D191G|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.D201G|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.D191G|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.D228G|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.D191G|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.D191G|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.D239G|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.D201G	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	228					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CTCTGAGGAGTCAACAGGTGA	0.572													12	268					0	0	0.411799	0	0	C	93017401	T	C	93017401	3	2	17	1	0	0	0	0	1	0	0	0	13799	1667	58	3	1159	3	RUNX1T1	8	93017401	Missense_Mutation	SNP	T	TCGA-CH-5762-01A-11D-1576-08	2214795	93017401	53346621	47	924											
SNX31	169166	broad.mit.edu	37	chr8	101589258	101589258	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcacagacctggctttgttGaatgtggtattttttacttt	7	19	8	7	0	1	2	1	1	0	1	1	2	1	2	1	2	1	3	1	2	3	7			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr8:101589258G>A	ENST00000311812.2	-	13	1366	c.1216C>T	c.(1216-1218)Caa>Taa	p.Q406*	SNX31_ENST00000428383.2_Nonsense_Mutation_p.Q307*	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	406					cell communication|protein transport		phosphatidylinositol binding	p.Q406*(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			TGGCTTTGTTGAATGTGGTAT	0.343													52	334					0	0	0.870114	0	0	A	101589258	G	A	101589258	4	1	17	1	0	0	0	0	0	1	0	0	14955	1299	45	2	114	2	SNX31	8	101589258	Nonsense_Mutation	SNP	G	TCGA-CH-5762-01A-11D-1576-08	8571857	101589258	44774764	48	925											
DGAT1	8694	broad.mit.edu	37	chr8	145541933	145541933	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcccctcaccagccttggCcctggccctgcggcaccatg	5	6	10	20	1	1	0	1	0	0	0	1	0	1	0	7	3	3	1	7	3	0	1			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr8:145541933C>T	ENST00000332324.4	-	7	940	c.667G>A	c.(667-669)Gcc>Acc	p.A223T	DGAT1_ENST00000531896.1_Missense_Mutation_p.A223T	NM_012079.4	NP_036211.2	O75907	DGAT1_HUMAN	diacylglycerol O-acyltransferase 1	223					triglyceride biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity	p.A223T(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			CCAGCCTTGGCCCTGGCCCTG	0.692													8	51					0	0	0.307466	0	0	T	145541933	C	T	145541933	3	4	17	1	0	0	0	0	1	0	0	0	4485	739	26	2	843	2	DGAT1	8	145541933	Missense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08	43952675	145541933	822089	49	926											
FREM1	158326	broad.mit.edu	37	chr9	14823308	14823308	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggcatgtaggccactttCatatagttcacagcatgctg	9	11	12	9	0	2	0	2	0	0	0	2	0	2	0	1	3	2	5	1	3	3	5			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr9:14823308C>A	ENST00000380881.4	-	14	3005	c.2190G>T	c.(2188-2190)atG>atT	p.M730I	FREM1_ENST00000422223.2_Missense_Mutation_p.M729I|FREM1_ENST00000380880.3_Missense_Mutation_p.M729I			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	729					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	p.M729I(1)|p.M730I(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AGGCCACTTTCATATAGTTCA	0.453													74	350					8.41775e-28	1e-27	0.870114	1	0	A	14823308	C	A	14823308	3	1	17	1	0	0	0	0	1	0	0	0	6079	826	29	4	4502	4	FREM1	9	14823308	Missense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08		14823308	126390123	50	927											
TMC1	117531	broad.mit.edu	37	chr9	75357381	75357381	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgggcaaaattcctccgtGattttgagaacttcaaagct	13	12	8	8	1	1	2	1	2	0	1	3	3	3	2	2	1	2	2	2	1	5	4			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr9:75357381G>A	ENST00000297784.5	+	10	1015	c.475G>A	c.(475-477)Gat>Aat	p.D159N	TMC1_ENST00000396237.3_Missense_Mutation_p.D159N|TMC1_ENST00000340019.3_Missense_Mutation_p.D159N	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	159	Arg/Asp/Glu/Lys-rich (highly charged).				sensory perception of sound	integral to membrane		p.D159N(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						ATTCCTCCGTGATTTTGAGAA	0.378													16	87					0	0	0.500413	0	0	A	75357381	G	A	75357381	3	1	17	1	0	0	0	0	1	0	0	0	16044	1290	45	2	497	2	TMC1	9	75357381	Missense_Mutation	SNP	G	TCGA-CH-5762-01A-11D-1576-08	60534073	75357381	65856050	51	928											
FGD3	89846	broad.mit.edu	37	chr9	95784668	95784668	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggcagttcgggtgcagcAggggtaagtgccccatgctc	8	7	16	10	1	0	0	0	0	0	0	2	1	0	0	2	4	4	6	2	4	2	2			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr9:95784668A>C	ENST00000375482.3	+	14	2050	c.1554A>C	c.(1552-1554)gcA>gcC	p.A518A	FGD3_ENST00000416701.2_Silent_p.A518A|FGD3_ENST00000538555.1_Silent_p.A121A|FGD3_ENST00000337352.6_Silent_p.A518A	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	518					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	p.A518A(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						CGGGTGCAGCAGGGGTAAGTG	0.612													13	103					0	0	0.457914	0	0	C	95784668	A	C	95784668	2	2	17	1	0	0	0	0	0	0	0	1	5867	175	7	5		5	FGD3	9	95784668	Silent	SNP	A	TCGA-CH-5762-01A-11D-1576-08	20427287	95784668	45428763	52	929											
C9orf84	158401	broad.mit.edu	37	chr9	114543279	114543279	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggtatctgtcattcccGgaactgaaacagctgagact	11	10	10	10	1	2	3	1	3	1	1	3	5	3	4	1	2	3	2	1	2	3	2			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr9:114543279G>A	ENST00000374283.5	-	4	332	c.188C>T	c.(187-189)cCg>cTg	p.P63L	C9orf84_ENST00000374287.3_5'UTR|C9orf84_ENST00000318737.4_5'UTR			Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	0										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TGTCATTCCCGGAACTGAAAC	0.348													3	111					0	0	0.115264	0	0	A	114543279	G	A	114543279	3	1	17	1	0	0	0	0	1	0	0	0	2518	1131	39	1		1	C9orf84	9	114543279	Missense_Mutation	SNP	G	TCGA-CH-5762-01A-11D-1576-08	18758611	114543279	26670152	53	930											
DDIT4	54541	broad.mit.edu	37	chr10	74034535	74034535	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaacacttgtgtgccaacctGatgcagctgctgcaggagag	10	8	13	10	0	0	2	0	1	0	1	0	4	0	2	2	1	7	4	2	1	2	1			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr10:74034535G>A	ENST00000307365.3	+	3	489	c.288G>A	c.(286-288)ctG>ctA	p.L96L		NM_019058.2	NP_061931.1	Q9NX09	DDIT4_HUMAN	DNA-damage-inducible transcript 4	96					apoptosis			p.L96L(1)		cervix(1)|endometrium(2)|lung(5)|pancreas(1)|prostate(2)|urinary_tract(1)	12						GTGCCAACCTGATGCAGCTGC	0.627											OREG0020262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	371					0	0	0.847076	0	0	A	74034535	G	A	74034535	2	1	17	1	0	0	0	0	0	0	0	1	4354	1277	45	2		2	DDIT4	10	74034535	Silent	SNP	G	TCGA-CH-5762-01A-11D-1576-08		74034535	61500212	54	931											
USP54	159195	broad.mit.edu	37	chr10	75258743	75258743	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtagtgtggcagtgtaggTtagttgaggattgcaccctg	7	13	16	5	0	0	1	0	1	0	0	0	2	0	2	1	4	1	6	1	4	3	5			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr10:75258743T>C	ENST00000339859.4	-	23	4799	c.4699A>G	c.(4699-4701)Acc>Gcc	p.T1567A	RP11-137L10.6_ENST00000442133.3_RNA|USP54_ENST00000408019.1_Missense_Mutation_p.T1567A|USP54_ENST00000422491.2_Missense_Mutation_p.T702A|RP11-137L10.6_ENST00000600206.1_RNA|USP54_ENST00000428547.1_Missense_Mutation_p.T1417A|USP54_ENST00000394811.2_Missense_Mutation_p.T608A|RP11-137L10.6_ENST00000597958.1_RNA|RP11-137L10.6_ENST00000600887.1_RNA|RP11-137L10.6_ENST00000600607.1_RNA|RP11-137L10.6_ENST00000596320.1_RNA|RP11-137L10.6_ENST00000595935.1_RNA|RP11-137L10.6_ENST00000595069.1_RNA|RP11-137L10.6_ENST00000593790.1_RNA|USP54_ENST00000497106.1_5'UTR			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	1567					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					GCAGTGTAGGTTAGTTGAGGA	0.532													7	419					0	0	0.27861	0	0	C	75258743	T	C	75258743	3	2	17	1	0	0	0	0	1	0	0	0	17145	1725	60	3	359	3	USP54	10	75258743	Missense_Mutation	SNP	T	TCGA-CH-5762-01A-11D-1576-08	1224208	75258743	60276004	55	932											
C10orf99	387695	broad.mit.edu	37	chr10	85933664	85933664	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgcttctctgcttctccatCttctccacagaaggtagggc	6	13	8	14	0	4	1	0	0	4	1	7	1	4	1	2	2	2	3	2	2	2	4			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr10:85933664C>G	ENST00000372126.3	+	1	171	c.57C>G	c.(55-57)atC>atG	p.I19M		NM_207373.2	NP_997256.1	Q6UWK7	CJ099_HUMAN	chromosome 10 open reading frame 99	19						extracellular region		p.I19M(1)|p.I19I(1)		endometrium(1)|lung(1)|pancreas(1)|prostate(1)	4						GCTTCTCCATCTTCTCCACAG	0.547													25	251					0	0	0.681144	0	0	G	85933664	C	G	85933664	3	3	17	1	0	0	0	0	1	0	0	0	1632	903	32	4	59	4	C10orf99	10	85933664	Missense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08	10674921	85933664	49601083	56	933											
CNNM1	26507	broad.mit.edu	37	chr10	101120671	101120671	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgtttaagctttcggacacGgagatgcgggtgaagatctc	9	12	13	7	3	1	3	0	1	1	2	3	5	1	4	0	3	2	2	0	3	2	4	rs61735150	byFrequency	TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr10:101120671G>A	ENST00000356713.4	+	3	2086	c.1797G>A	c.(1795-1797)acG>acA	p.T599T	CNNM1_ENST00000370528.3_Silent_p.T528T|CNNM1_ENST00000370534.4_Silent_p.T234T|CNNM1_ENST00000446890.1_Silent_p.T528T	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin M1	599					ion transport	integral to membrane|plasma membrane				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		TTTCGGACACGGAGATGCGGG	0.542													8	237					0	0	0.307466	0	0	A	101120671	G	A	101120671	2	1	17	1	0	0	0	0	0	0	0	1	3635	1103	39	1		1	CNNM1	10	101120671	Silent	SNP	G	TCGA-CH-5762-01A-11D-1576-08	15187007	101120671	34414076	57	934											
SLC18A2	6571	broad.mit.edu	37	chr10	119003545	119003545	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatgctacagaaatccagaCggccaggccagtgcacactg	13	5	11	12	1	0	2	0	0	0	2	1	3	1	2	3	2	3	2	3	2	3	1	rs140529367		TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr10:119003545C>G	ENST00000298472.5	+	3	328	c.185C>G	c.(184-186)aCg>aGg	p.T62R	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	62					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	GAAATCCAGACGGCCAGGCCA	0.493													3	75					0	0	0.115264	0	0	G	119003545	C	G	119003545	3	3	17	1	0	0	0	0	1	0	0	0	14481	536	19	4	191	4	SLC18A2	10	119003545	Missense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08	17882874	119003545	16531202	58	935											
ACADSB	36	broad.mit.edu	37	chr10	124806813	124806813	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaagactatttgattttcAggtatgtaattattagggtc	13	16	8	4	0	1	2	1	1	0	1	2	2	1	2	0	2	0	2	0	2	7	8			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr10:124806813A>G	ENST00000358776.4	+	8	1003	c.990_splice	c.e8+1	p.Q330_splice	ACADSB_ENST00000368869.4_Splice_Site_p.Q228_splice	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN	acyl-CoA dehydrogenase, short/branched chain	330					branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)	TTTGATTTTCAGGTATGTAAT	0.403													3	103					0	0	0.115264	0	0	G	124806813	A	G	124806813	5	3	17	1	0	0	0	0	0	0	1	0	115	202	7	3	1019	3	ACADSB	10	124806813	Splice_Site	SNP	A	TCGA-CH-5762-01A-11D-1576-08	5803268	124806813	10727934	59	936											
ASCL3	56676	broad.mit.edu	37	chr11	8959683	8959683	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggaagtttgtcaggtagaCtagagttgcctctgttgtcc	8	14	12	7	0	2	2	1	0	1	2	3	3	3	3	2	2	1	4	2	2	4	6			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr11:8959683C>G	ENST00000325884.1	-	2	85	c.26G>C	c.(25-27)aGt>aCt	p.S9T	ASCL3_ENST00000531618.1_Missense_Mutation_p.S9T	NM_020646.1	NP_065697.1	Q9NQ33	ASCL3_HUMAN	achaete-scute family bHLH transcription factor 3	8					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleolus	DNA binding			breast(1)|large_intestine(2)|lung(5)|stomach(1)	9				Epithelial(150;1.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0228)		GTCAGGTAGACTAGAGTTGCC	0.463													5	346					0	0	0.184627	0	0	G	8959683	C	G	8959683	3	3	17	1	0	0	0	0	1	0	0	0	1034	565	20	4	523	4	ASCL3	11	8959683	Missense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08		8959683	126046833	60	937											
TTC17	55761	broad.mit.edu	37	chr11	43418961	43418961	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagagcacacttctctgctGatgctgctgtcgtggtccat	7	12	10	12	1	1	2	0	1	1	1	4	2	2	2	1	1	4	4	1	1	0	1			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr11:43418961G>C	ENST00000039989.4	+	7	852	c.838G>C	c.(838-840)Gat>Cat	p.D280H	TTC17_ENST00000299240.6_Missense_Mutation_p.D280H|TTC17_ENST00000526774.1_3'UTR	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	280							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						CTTCTCTGCTGATGCTGCTGT	0.438													11	445					0	0	0.38729	0	0	C	43418961	G	C	43418961	3	2	17	1	0	0	0	0	1	0	0	0	16746	1290	45	4	864	4	TTC17	11	43418961	Missense_Mutation	SNP	G	TCGA-CH-5762-01A-11D-1576-08	34459278	43418961	91587555	61	938											
OR4S2	219431	broad.mit.edu	37	chr11	55418545	55418545	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgagcaacctgtttaagtcaCccatgtatttctttctcagc	9	15	6	11	0	3	1	2	1	2	0	4	1	3	1	2	0	3	3	2	0	3	5			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr11:55418545C>G	ENST00000312422.2	+	1	166	c.166C>G	c.(166-168)Ccc>Gcc	p.P56A		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				GTTTAAGTCACCCATGTATTT	0.393													7	488					0	0	0.248553	0	0	G	55418545	C	G	55418545	3	3	17	1	0	0	0	0	1	0	0	0	11131	507	18	4	168	4	OR4S2	11	55418545	Missense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08	11999584	55418545	79587971	62	939											
NPAS4	266743	broad.mit.edu	37	chr11	66192368	66192368	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggactggagcccctggaCtccaacctgtccctgtcagg	7	7	13	14	0	1	0	1	0	0	0	3	4	3	4	5	5	2	0	5	5	1	0			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr11:66192368C>T	ENST00000311034.2	+	7	2183	c.2007C>T	c.(2005-2007)gaC>gaT	p.D669D		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	669					transcription, DNA-dependent		DNA binding|signal transducer activity	p.D669D(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						AGCCCCTGGACTCCAACCTGT	0.607													46	269					0	0	0.870114	0	0	T	66192368	C	T	66192368	2	4	17	1	0	0	0	0	0	0	0	1	10612	564	20	2		2	NPAS4	11	66192368	Silent	SNP	C	TCGA-CH-5762-01A-11D-1576-08	10773823	66192368	68814148	63	940											
LRFN4	78999	broad.mit.edu	37	chr11	66627358	66627358	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctgccttactggtcttcActgtggccttgctggttcgg	2	15	13	11	1	2	0	1	0	1	0	3	0	2	0	2	5	3	3	2	5	1	4			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr11:66627358A>C	ENST00000309602.4	+	2	1843	c.1600A>C	c.(1600-1602)Act>Cct	p.T534P	LRFN4_ENST00000393952.3_Intron|PC_ENST00000393955.2_Intron|PC_ENST00000393960.1_Intron|PC_ENST00000393958.2_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	534						integral to membrane		p.T534P(1)		breast(1)|lung(1)|prostate(1)	3						ACTGGTCTTCACTGTGGCCTT	0.721													7	27					0	0	0.27861	0	0	C	66627358	A	C	66627358	3	2	17	1	0	0	0	0	1	0	0	0	8985	159	6	5	1606	5	LRFN4	11	66627358	Missense_Mutation	SNP	A	TCGA-CH-5762-01A-11D-1576-08	434990	66627358	68379158	64	941											
USP35	57558	broad.mit.edu	37	chr11	77911274	77911274	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagcactcccacgaagccttCcacctggtaaggtcccctgc	8	7	8	18	1	0	0	0	0	0	0	3	1	3	0	6	2	3	2	6	2	2	2			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr11:77911274C>T	ENST00000529308.1	+	5	1293	c.1032C>T	c.(1030-1032)ttC>ttT	p.F344F	USP35_ENST00000530535.1_Intron|USP35_ENST00000530267.1_Intron|USP35_ENST00000526425.1_Silent_p.F75F|USP35_ENST00000441408.2_5'UTR	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	344					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.F344F(1)|p.F100F(1)		endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			ACGAAGCCTTCCACCTGGTAA	0.627													12	82					0	0	0.435327	0	0	T	77911274	C	T	77911274	2	4	17	1	0	0	0	0	0	0	0	1	17126	854	30	2		2	USP35	11	77911274	Silent	SNP	C	TCGA-CH-5762-01A-11D-1576-08	11283916	77911274	57095242	65	942											
ATM	472	broad.mit.edu	37	chr11	108170450	108170450	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tctatatgtagaggctgttgGaagctgcttgggagaagtgg	9	12	16	4	0	1	2	0	0	1	2	1	4	1	3	0	4	2	5	0	4	5	5			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr11:108170450G>C	ENST00000278616.4	+	34	5400	c.5015G>C	c.(5014-5016)gGa>gCa	p.G1672A	ATM_ENST00000452508.2_Missense_Mutation_p.G1672A	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	1672					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.G1672A(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GAGGCTGTTGGAAGCTGCTTG	0.333			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			30	209					0	0	0.788014	0	0	C	108170450	G	C	108170450	3	2	17	1	0	0	0	0	1	0	0	0	1108	1174	41	4	5145	4	ATM	11	108170450	Missense_Mutation	SNP	G	TCGA-CH-5762-01A-11D-1576-08	30259176	108170450	26836066	66	943											
TAS2R46	259292	broad.mit.edu	37	chr12	11214315	11214315	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagattaacagcagaaaagaTatcagggtcagagtgaaggg	17	6	13	5	0	2	5	2	1	0	4	2	5	2	5	0	2	2	1	0	2	5	2			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr12:11214315T>A	ENST00000533467.1	-	1	578	c.579A>T	c.(577-579)atA>atT	p.I193I	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	taste receptor, type 2, member 46	193					sensory perception of taste	cilium membrane|integral to membrane	G-protein coupled receptor activity	p.I193I(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		GCAGAAAAGATATCAGGGTCA	0.413													39	231					0	0	0.804634	0	0	A	11214315	T	A	11214315	2	1	17	1	0	0	0	0	0	0	0	1	15639	1396	49	5		5	TAS2R46	12	11214315	Silent	SNP	T	TCGA-CH-5762-01A-11D-1576-08		11214315	122637580	67	944											
RERGL	79785	broad.mit.edu	37	chr12	18237549	18237549	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgtcatacacaataacaaaCccatctgcccagtgaagctc	15	8	5	13	0	2	1	1	1	1	0	3	1	2	1	2	0	5	1	2	0	5	2			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr12:18237549C>A	ENST00000229002.2	-	5	443	c.237G>T	c.(235-237)ggG>ggT	p.G79G	RERGL_ENST00000536890.1_Intron|RERGL_ENST00000541632.1_5'UTR|RERGL_ENST00000538724.1_Silent_p.G78G	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN	RERG/RAS-like	79	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						CAATAACAAACCCATCTGCCC	0.408													6	235					0.00116845	0.00126448	0.217242	1	0	A	18237549	C	A	18237549	2	1	17	1	0	0	0	0	0	0	0	1	13285	494	18	4		4	RERGL	12	18237549	Silent	SNP	C	TCGA-CH-5762-01A-11D-1576-08	7023234	18237549	115614346	68	945											
CASC1	55259	broad.mit.edu	37	chr12	25264722	25264722	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgccttattgtttataataAcataaaaatgagagtgtcta	15	16	6	4	0	1	1	0	1	1	1	1	2	1	1	1	0	2	1	1	0	8	9			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr12:25264722A>C	ENST00000354189.5	-	14	1972	c.1937T>G	c.(1936-1938)gTt>gGt	p.V646G	CASC1_ENST00000545133.1_Missense_Mutation_p.V523G|CASC1_ENST00000537577.1_Missense_Mutation_p.V470G|CASC1_ENST00000395987.3_Missense_Mutation_p.V588G|CASC1_ENST00000395990.2_Missense_Mutation_p.V542G|CASC1_ENST00000320267.9_Missense_Mutation_p.V582G	NM_001082972.1	NP_001076441.1	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	582										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			GTTTATAATAACATAAAAATG	0.279													5	140					0	0	0.184627	0	0	C	25264722	A	C	25264722	3	2	17	1	0	0	0	0	1	0	0	0	2678	43	2	5	417	5	CASC1	12	25264722	Missense_Mutation	SNP	A	TCGA-CH-5762-01A-11D-1576-08	7027173	25264722	108587173	69	946											
IPO8	10526	broad.mit.edu	37	chr12	30818715	30818715	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catgcagggctccatctttcTtcctagggtcaaagttcggg	7	12	11	11	1	3	0	1	0	2	0	6	0	5	0	2	3	1	3	2	3	2	4			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr12:30818715T>A	ENST00000256079.4	-	12	1624	c.1286A>T	c.(1285-1287)aAg>aTg	p.K429M	IPO8_ENST00000544829.1_Missense_Mutation_p.K224M	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	429					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding	p.K429M(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TCCATCTTTCTTCCTAGGGTC	0.358													22	134					0	0	0.654019	0	0	A	30818715	T	A	30818715	3	1	17	1	0	0	0	0	1	0	0	0	7842	1609	56	5	1883	5	IPO8	12	30818715	Missense_Mutation	SNP	T	TCGA-CH-5762-01A-11D-1576-08	5553993	30818715	103033180	70	947											
IPO8	10526	broad.mit.edu	37	chr12	30818751	30818751	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgggtctgtcaggatttgaTaacagaatgccatcattttt	10	15	9	7	1	3	2	2	1	1	1	4	3	3	3	1	2	2	0	1	2	2	4			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr12:30818751T>A	ENST00000256079.4	-	12	1588	c.1250A>T	c.(1249-1251)tAt>tTt	p.Y417F	IPO8_ENST00000544829.1_Missense_Mutation_p.Y212F	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	417					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding	p.Y417F(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CAGGATTTGATAACAGAATGC	0.378													28	120					0	0	0.717897	0	0	A	30818751	T	A	30818751	3	1	17	1	0	0	0	0	1	0	0	0	7842	1406	49	5	1919	5	IPO8	12	30818751	Missense_Mutation	SNP	T	TCGA-CH-5762-01A-11D-1576-08	36	30818751	103033144	71	948											
KRT4	3851	broad.mit.edu	37	chr12	53201573	53201573	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcagcctccagctctacgcGcttgctgtgggcatctttaa	6	11	11	13	2	2	0	0	0	2	0	3	0	3	0	2	2	4	5	2	2	2	4			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr12:53201573G>A	ENST00000551956.1	-	7	1693	c.1201C>T	c.(1201-1203)Cgc>Tgc	p.R401C	KRT4_ENST00000458244.2_Missense_Mutation_p.R381C|KRT4_ENST00000293774.4_Missense_Mutation_p.R475C			B4DRS2	B4DRS2_HUMAN	keratin 4	401						keratin filament	structural molecule activity	p.R475C(2)		endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						AGCTCTACGCGCTTGCTGTGG	0.557													18	88					0	0	0.624587	0	0	A	53201573	G	A	53201573	3	1	17	1	0	0	0	0	1	0	0	0	8520	1087	38	1	373	1	KRT4	12	53201573	Missense_Mutation	SNP	G	TCGA-CH-5762-01A-11D-1576-08	22382822	53201573	80650322	72	949											
EEA1	8411	broad.mit.edu	37	chr12	93171901	93171901	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aatctgcatggtaagtttagCctcattttcttcatgcttct	8	18	6	9	0	5	0	2	0	3	0	5	0	5	0	1	1	3	4	1	1	3	7			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr12:93171901C>T	ENST00000322349.8	-	26	3973	c.3709G>A	c.(3709-3711)Gct>Act	p.A1237T		NM_003566.3	NP_003557.2	Q15075	EEA1_HUMAN	early endosome antigen 1	1237					early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						GTAAGTTTAGCCTCATTTTCT	0.373													7	295					0	0	0.248553	0	0	T	93171901	C	T	93171901	3	4	17	1	0	0	0	0	1	0	0	0	4947	739	26	2	542	2	EEA1	12	93171901	Missense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08	39970328	93171901	40679994	73	950											
ANO4	121601	broad.mit.edu	37	chr12	101368648	101368648	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatctattacctgccccgcCgttacaagttcatgagcagg	11	10	8	12	2	2	1	1	1	1	0	2	1	2	1	4	1	4	3	4	1	5	4	rs144445830	by1000genomes	TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr12:101368648C>G	ENST00000392979.3	+	6	839	c.478C>G	c.(478-480)Cgt>Ggt	p.R160G	ANO4_ENST00000538618.1_3'UTR|ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392977.3_Missense_Mutation_p.R195G	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	195						chloride channel complex	chloride channel activity	p.R160C(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CCTGCCCCGCCGTTACAAGTT	0.468										HNSCC(74;0.22)			5	194					0	0	0.184627	0	0	G	101368648	C	G	101368648	3	3	17	1	0	0	0	0	1	0	0	0	693	652	23	4	496	4	ANO4	12	101368648	Missense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08	8196747	101368648	32483247	74	951											
MED13L	23389	broad.mit.edu	37	chr12	116457671	116457671	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctttcttttttagcaccatCgggtagaaatactgccattc	9	16	6	10	1	2	1	0	0	2	1	4	1	2	1	2	1	3	2	2	1	4	7			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr12:116457671C>T	ENST00000281928.3	-	6	938	c.732G>A	c.(730-732)ccG>ccA	p.P244P		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	244					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			p.P244P(1)		NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TTAGCACCATCGGGTAGAAAT	0.418													63	158					0	0	0.870114	0	0	T	116457671	C	T	116457671	2	4	17	1	0	0	0	0	0	0	0	1	9481	871	31	1		1	MED13L	12	116457671	Silent	SNP	C	TCGA-CH-5762-01A-11D-1576-08	15089023	116457671	17394224	75	952											
CHFR	0	broad.mit.edu	37	chr12	133428223	133428223	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgctgaggggcgacacgCgggtcctgctcgcgctccgc	4	6	15	16	6	0	1	0	1	0	0	3	2	2	1	2	3	2	3	2	3	0	0	rs142511371		TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr12:133428223C>T	ENST00000266880.7	-	13	1569	c.1506G>A	c.(1504-1506)ccG>ccA	p.P502P	CHFR_ENST00000450056.2_Silent_p.P491P|CHFR_ENST00000315585.7_Silent_p.P462P|CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000432561.2_Silent_p.P503P|CHFR_ENST00000537522.1_Silent_p.P125P|CHFR_ENST00000443047.2_Silent_p.P411P			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	503					cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.P462P(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		GGGCGACACGCGGGTCCTGCT	0.657													58	292					0	0	0.870114	0	0	T	133428223	C	T	133428223	2	4	17	1	0	0	0	0	0	0	0	1	3359	755	27	1		1	CHFR	12	133428223	Silent	SNP	C	TCGA-CH-5762-01A-11D-1576-08	16970552	133428223	423672	76	953											
ITGBL1	9358	broad.mit.edu	37	chr13	102250584	102250584	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcacccacagtcctgcaCgctgtcagctgaggagagca	10	6	12	13	1	1	3	1	2	0	1	2	4	2	3	2	1	4	5	2	1	0	0			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr13:102250584C>T	ENST00000376180.3	+	7	1169	c.950C>T	c.(949-951)aCg>aTg	p.T317M	ITGBL1_ENST00000545560.2_Missense_Mutation_p.T176M|ITGBL1_ENST00000376162.3_Missense_Mutation_p.T224M	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	317	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity	p.T317M(1)		breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CAGTCCTGCACGCTGTCAGCT	0.567													18	79					0	0	0.520397	0	0	T	102250584	C	T	102250584	3	4	17	1	0	0	0	0	1	0	0	0	7946	536	19	1	976	1	ITGBL1	13	102250584	Missense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08		102250584	12919294	77	954											
RNASE6	6039	broad.mit.edu	37	chr14	21250158	21250158	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagagctcaaagcctgtcaaCatgactgactgcagactcac	13	7	8	13	0	3	4	3	2	0	2	3	4	3	4	1	0	4	2	1	0	2	0			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr14:21250158C>T	ENST00000304677.2	+	2	593	c.300C>T	c.(298-300)aaC>aaT	p.N100N		NM_005615.4	NP_005606.1	Q93091	RNAS6_HUMAN	ribonuclease, RNase A family, k6	100					defense response|RNA catabolic process	extracellular region	nucleic acid binding|pancreatic ribonuclease activity			large_intestine(1)	1	all_cancers(95;0.00406)		Epithelial(56;9.21e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0126)		AGCCTGTCAACATGACTGACT	0.502													8	286					0	0	0.27861	0	0	T	21250158	C	T	21250158	2	4	17	1	0	0	0	0	0	0	0	1	13459	477	17	2		2	RNASE6	14	21250158	Silent	SNP	C	TCGA-CH-5762-01A-11D-1576-08		21250158	86099382	78	955											
DDHD1	0	broad.mit.edu	37	chr14	53513502	53513502	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagttcagattggatctaaaTtgggttttgcatcatcatcg	10	15	10	6	1	4	1	3	0	1	1	5	3	4	2	0	2	1	3	0	2	2	6			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr14:53513502T>C	ENST00000357758.3	-	12	2786	c.2603A>G	c.(2602-2604)aAt>aGt	p.N868S	DDHD1_ENST00000323669.5_Missense_Mutation_p.N896S|DDHD1_ENST00000395606.1_Missense_Mutation_p.N875S	NM_030637.2	NP_085140.2	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	896	DDHD.				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding	p.N868S(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					TGGATCTAAATTGGGTTTTGC	0.388													25	133					0	0	0.667858	0	0	C	53513502	T	C	53513502	3	2	17	1	0	0	0	0	1	0	0	0	4349	1493	52	3	19	3	DDHD1	14	53513502	Missense_Mutation	SNP	T	TCGA-CH-5762-01A-11D-1576-08	32263344	53513502	53836038	79	956											
DACT1	51339	broad.mit.edu	37	chr14	59112942	59112942	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacagctttccccgtggaagAgaggcctgccttggatttca	8	11	11	11	1	1	1	1	0	0	1	2	4	2	3	4	3	3	1	4	3	2	4			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr14:59112942A>G	ENST00000395153.3	+	4	1637	c.1490A>G	c.(1489-1491)gAg>gGg	p.E497G	DACT1_ENST00000335867.4_Missense_Mutation_p.E534G|DACT1_ENST00000541264.2_Missense_Mutation_p.E253G|DACT1_ENST00000395151.3_Missense_Mutation_p.E253G|DACT1_ENST00000556859.1_Missense_Mutation_p.E253G	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	534					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		p.E534G(1)		endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CCCGTGGAAGAGAGGCCTGCC	0.592													26	161					0	0	0.717897	0	0	G	59112942	A	G	59112942	3	3	17	1	0	0	0	0	1	0	0	0	4246	304	11	3	1615	3	DACT1	14	59112942	Missense_Mutation	SNP	A	TCGA-CH-5762-01A-11D-1576-08	5599440	59112942	48236598	80	957											
HSP90AA1	3320	broad.mit.edu	37	chr14	102548653	102548653	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggtgtttctttgctgcCatgtaacccattgttgagtt	6	17	9	9	0	1	1	0	1	1	0	2	1	2	1	3	1	3	5	3	1	1	6			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr14:102548653C>T	ENST00000334701.7	-	11	2531	c.2250G>A	c.(2248-2250)atG>atA	p.M750I	HSP90AA1_ENST00000216281.8_Missense_Mutation_p.M628I	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	628					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	TCTTTGCTGCCATGTAACCCA	0.448													7	394					0	0	0.248553	0	0	T	102548653	C	T	102548653	3	4	17	1	0	0	0	0	1	0	0	0	7444	594	21	2	322	2	HSP90AA1	14	102548653	Missense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08	43435711	102548653	4800887	81	958											
CILP	8483	broad.mit.edu	37	chr15	65502037	65502037	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatacttagcctatacccaaCacagatgtgacttccaggac	13	9	7	12	0	0	2	0	1	0	1	1	4	1	3	3	1	4	0	3	1	5	5			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr15:65502037C>A	ENST00000261883.4	-	2	223	c.57G>T	c.(55-57)gtG>gtT	p.V19V		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	19					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		p.V19V(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CTATACCCAACACAGATGTGA	0.542													10	83					2.62699e-14	3.02966e-14	0.479597	1	0	A	65502037	C	A	65502037	2	1	17	1	0	0	0	0	0	0	0	1	3451	465	17	4		4	CILP	15	65502037	Silent	SNP	C	TCGA-CH-5762-01A-11D-1576-08		65502037	37029355	82	959											
DENND4A	10260	broad.mit.edu	37	chr15	66015198	66015198	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccacttacattttgccaattGctgatgcaaattattcagtg	11	15	6	9	0	1	1	1	1	0	0	1	1	1	1	2	0	4	2	2	0	4	6			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr15:66015198G>T	ENST00000443035.3	-	12	1791	c.1576C>A	c.(1576-1578)Caa>Aaa	p.Q526K	DENND4A_ENST00000431932.2_Missense_Mutation_p.Q526K	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	526					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						TTTGCCAATTGCTGATGCAAA	0.303													3	43					0.184627	0.193186	0.184627	1	0	T	66015198	G	T	66015198	3	4	17	1	0	0	0	0	1	0	0	0	4461	1328	46	4	4232	4	DENND4A	15	66015198	Missense_Mutation	SNP	G	TCGA-CH-5762-01A-11D-1576-08	513161	66015198	36516194	83	960											
IL16	3603	broad.mit.edu	37	chr15	81598322	81598322	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcaatgaggttctttccaTcaacggcaagtctctcaagg	10	10	11	10	1	4	1	2	1	2	0	6	1	5	1	1	4	1	3	1	4	4	2			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr15:81598322T>G	ENST00000394660.2	+	17	3854	c.3494T>G	c.(3493-3495)aTc>aGc	p.I1165S	IL16_ENST00000302987.4_Missense_Mutation_p.I1165S|IL16_ENST00000394652.2_Missense_Mutation_p.I464S|RP11-761I4.4_ENST00000607019.1_RNA	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	1165	Interaction with PPP1R12A, PPP1R12B and PPP1R12C.|PDZ 3.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GTTCTTTCCATCAACGGCAAG	0.547													8	347					0	0	0.27861	0	0	G	81598322	T	G	81598322	3	3	17	1	0	0	0	0	1	0	0	0	7677	1435	50	5	3556	5	IL16	15	81598322	Missense_Mutation	SNP	T	TCGA-CH-5762-01A-11D-1576-08	15583124	81598322	20933070	84	961											
POLG	5428	broad.mit.edu	37	chr15	89868709	89868709	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcagaccaccccagctgactCcagggtggtacctgtcggca	8	6	12	15	1	0	2	0	1	0	1	2	2	1	2	5	3	2	4	5	3	1	1			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr15:89868709C>T	ENST00000268124.5	-	10	2254	c.1921G>A	c.(1921-1923)Gag>Aag	p.E641K	POLG_ENST00000442287.2_Missense_Mutation_p.E641K	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	641					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			CCAGCTGACTCCAGGGTGGTA	0.657								DNA polymerases (catalytic subunits)					12	194					0	0	0.411799	0	0	T	89868709	C	T	89868709	3	4	17	1	0	0	0	0	1	0	0	0	12248	864	30	2	1854	2	POLG	15	89868709	Missense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08	8270387	89868709	12662683	85	962											
CHRNE	1145	broad.mit.edu	37	chr17	4805227	4805227	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcggagtagctcttcccacCggaaaataagcgaacagttc	12	8	9	12	3	1	0	0	0	1	0	4	3	2	2	2	2	3	3	2	2	5	4	rs121909514		TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr17:4805227C>A	ENST00000293780.4	-	5	510	c.500_splice	c.e5+1	p.R167_splice	CHRNE_ENST00000575637.1_Intron|C17orf107_ENST00000381365.3_3'UTR	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN	cholinergic receptor, nicotinic, epsilon (muscle)	167			R -> L (in CMS-ACHRD; significantly reduced AChR expression).		muscle contraction|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12						CTCTTCCCACCGGAAAATAAG	0.657													3	87					0.115264	0.121411	0.115264	1	0	A	4805227	C	A	4805227	5	1	17	1	0	0	0	0	0	0	1	0	3417	666	23	4	1013	4	CHRNE	17	4805227	Splice_Site	SNP	C	TCGA-CH-5762-01A-11D-1576-08		4805227	76389983	86	963											
CHD3	1107	broad.mit.edu	37	chr17	7801306	7801307	+	Frame_Shift_Ins	INS	-	-	T																															agtgtggataaaaaggggaaINSttaccactatctagtaaaat																										TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr17:7801306_7801307insT	ENST00000380358.4	+	12	2115_2116	c.2114_2115insT	c.(2113-2115)atafs	p.I705fs	CHD3_ENST00000330494.7_Frame_Shift_Ins_p.I646fs|CHD3_ENST00000358181.4_Frame_Shift_Ins_p.I646fs	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	646					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|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				AAAAAGGGGAATTACCACTATC	0.45													29	203	---	---	---	---						T	7801307	-	T	7801306	7	5	17	1	0	1	1	0	0	0	0	0	3348	101	4	0	2264	0	CHD3	17	7801306	Frame_Shift_Ins	INS	-	TCGA-CH-5762-01A-11D-1576-08	2996079	7801306	73393904	87	964											
ALOXE3	59344	broad.mit.edu	37	chr17	8013483	8013483	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctcgcacagcaaatgcgtgCacagaaagtgcgtgttgttt	10	10	11	10	3	0	1	0	0	0	1	1	1	0	1	1	0	4	5	1	0	2	2			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr17:8013483C>A	ENST00000380149.1	-	9	1730	c.1700G>T	c.(1699-1701)tGc>tTc	p.C567F	ALOXE3_ENST00000318227.3_Missense_Mutation_p.C543F|ALOXE3_ENST00000448843.2_Missense_Mutation_p.C411F			Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	411	Lipoxygenase.				leukotriene biosynthetic process		iron ion binding|lipoxygenase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						CAAATGCGTGCACAGAAAGTG	0.637											OREG0024154	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	49					6.4e-05	7.12113e-05	0.115264	1	0	A	8013483	C	A	8013483	3	1	17	1	0	0	0	0	1	0	0	0	538	710	25	4	931	4	ALOXE3	17	8013483	Missense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08	212177	8013483	73181727	88	965											
KRT38	8687	broad.mit.edu	37	chr17	39596807	39596807	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attctcctgctccagctggcGcaccttctccaggtagttgg	5	12	10	14	1	2	0	0	0	2	0	5	0	3	0	4	3	2	5	4	3	1	4	rs150183284	byFrequency	TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr17:39596807G>A	ENST00000246646.3	-	1	366	c.367C>T	c.(367-369)Cgc>Tgc	p.R123C		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	123	Coil 1A.|Rod.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				TCCAGCTGGCGCACCTTCTCC	0.582													5	215					0	0	0.184627	0	0	A	39596807	G	A	39596807	3	1	17	1	0	0	0	0	1	0	0	0	8518	1087	38	1	1031	1	KRT38	17	39596807	Missense_Mutation	SNP	G	TCGA-CH-5762-01A-11D-1576-08	31583324	39596807	41598403	89	966											
SEPT4	5414	broad.mit.edu	37	chr17	56603077	56603077	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcagcaccaagaagtttccGgtcccggtacagatcagtga	11	9	10	11	2	2	3	2	1	0	2	4	3	4	3	3	2	2	3	3	2	3	3			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr17:56603077G>C	ENST00000426861.1	-	4	546	c.460C>G	c.(460-462)Cgg>Ggg	p.R154G	SEPT4_ENST00000393086.1_Missense_Mutation_p.R154G|RP11-112H10.4_ENST00000580769.1_RNA|SEPT4_ENST00000317256.6_Missense_Mutation_p.R154G|SEPT4_ENST00000579371.1_Missense_Mutation_p.R74G|SEPT4_ENST00000580809.1_Missense_Mutation_p.R55G|SEPT4_ENST00000583114.1_Missense_Mutation_p.R26G|SEPT4_ENST00000317268.3_Missense_Mutation_p.R173G|SEPT4_ENST00000412945.3_Missense_Mutation_p.R165G|SEPT4_ENST00000580844.1_Missense_Mutation_p.R74G|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000457347.2_Missense_Mutation_p.R188G|RP11-112H10.4_ENST00000578022.1_RNA	NM_080415.2	NP_536340.1	O43236	SEPT4_HUMAN	septin 4	173					apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGAAGTTTCCGGTCCCGGTAC	0.522													8	103					0	0	0.335167	0	0	C	56603077	G	C	56603077	3	2	17	1	0	0	0	0	1	0	0	0	14120	1115	39	4	1040	4	SEPT4	17	56603077	Missense_Mutation	SNP	G	TCGA-CH-5762-01A-11D-1576-08	17006270	56603077	24592133	90	967											
SYT4	6860	broad.mit.edu	37	chr18	40853620	40853620	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaattcccgagagaggaatTagaacttccccaatgatatc	14	10	7	10	1	1	3	1	1	0	2	4	6	3	4	3	1	1	0	3	1	6	4			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr18:40853620T>A	ENST00000255224.3	-	2	1142	c.774A>T	c.(772-774)ctA>ctT	p.L258L	SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Silent_p.L240L	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	258	C2 1.|Phospholipid binding (Probable).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						AGAGAGGAATTAGAACTTCCC	0.353													4	127					0	0	0.150653	0	0	A	40853620	T	A	40853620	2	1	17	1	0	0	0	0	0	0	0	1	15533	1741	61	5		5	SYT4	18	40853620	Silent	SNP	T	TCGA-CH-5762-01A-11D-1576-08		40853620	37223628	91	968											
CDH19	28513	broad.mit.edu	37	chr18	64239269	64239269	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccgatgtgatgactagtcGtattcatttcctctggtaca	8	14	10	9	2	2	2	1	2	1	0	4	3	3	2	2	2	1	2	2	2	3	5			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr18:64239269G>A	ENST00000262150.2	-	2	465	c.173C>T	c.(172-174)aCg>aTg	p.T58M	CDH19_ENST00000540086.1_Missense_Mutation_p.T58M	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	58	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T58M(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				ATGACTAGTCGTATTCATTTC	0.373													21	109					0	0	0.624587	0	0	A	64239269	G	A	64239269	3	1	17	1	0	0	0	0	1	0	0	0	3126	1145	40	1	2189	1	CDH19	18	64239269	Missense_Mutation	SNP	G	TCGA-CH-5762-01A-11D-1576-08	23385649	64239269	13837979	92	969											
MUC16	94025	broad.mit.edu	37	chr19	9074121	9074121	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccacagagggagggcttGtccaggacacatccttggga	9	7	14	11	0	0	1	0	0	0	1	2	4	2	4	3	4	1	1	3	4	0	2			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr19:9074121G>C	ENST00000397910.4	-	3	13528	c.13325C>G	c.(13324-13326)aCa>aGa	p.T4442R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4444	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGAGGGCTTGTCCAGGACAC	0.493													13	186					0	0	0.435327	0	0	C	9074121	G	C	9074121	3	2	17	1	0	0	0	0	1	0	0	0	10021	1377	48	4	30526	4	MUC16	19	9074121	Missense_Mutation	SNP	G	TCGA-CH-5762-01A-11D-1576-08		9074121	50054862	93	970											
C19orf57	79173	broad.mit.edu	37	chr19	14015677	14015677	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccatttgaatgaacgtacctGaggtccgcagcttcttcctc	8	12	8	13	2	1	3	0	3	1	0	4	3	3	3	4	1	3	3	4	1	3	4			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr19:14015677G>A	ENST00000454313.1	-	2	87	c.29C>T	c.(28-30)tCa>tTa	p.S10L	C19orf57_ENST00000591586.1_Missense_Mutation_p.S10L|C19orf57_ENST00000346736.2_Missense_Mutation_p.S10L|C19orf57_ENST00000586783.1_Missense_Mutation_p.S10L			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	10					multicellular organismal development		protein binding	p.S10L(1)		breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GAACGTACCTGAGGTCCGCAG	0.413													27	155					0	0	0.706142	0	0	A	14015677	G	A	14015677	3	1	17	1	0	0	0	0	1	0	0	0	1951	1294	45	2	1912	2	C19orf57	19	14015677	Missense_Mutation	SNP	G	TCGA-CH-5762-01A-11D-1576-08	4941556	14015677	45113306	94	971											
HAPLN4	404037	broad.mit.edu	37	chr19	19371864	19371864	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgtccacttgagccggacgCcgtcgtgaccgtgggcggct	4	9	15	13	6	0	2	0	2	0	0	2	3	1	3	4	3	1	1	4	3	0	2			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr19:19371864C>T	ENST00000291481.7	-	3	305	c.242G>A	c.(241-243)gGc>gAc	p.G81D	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	81	Ig-like C2-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	p.G81D(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)			GAGCCGGACGCCGTCGTGACC	0.667													9	49					0	0	0.361761	0	0	T	19371864	C	T	19371864	3	4	17	1	0	0	0	0	1	0	0	0	6998	739	26	2	978	2	HAPLN4	19	19371864	Missense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08	5356187	19371864	39757119	95	972											
FAM98C	147965	broad.mit.edu	37	chr19	38895746	38895746	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagctgctgcaggagttgcAtgctaaggtagagagtcaga	11	8	14	8	0	1	2	1	0	0	2	1	4	1	3	1	2	5	7	1	2	2	3			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr19:38895746A>T	ENST00000252530.5	+	4	567	c.548A>T	c.(547-549)cAt>cTt	p.H183L	FAM98C_ENST00000585954.1_3'UTR|FAM98C_ENST00000588262.1_Intron|FAM98C_ENST00000343358.7_Missense_Mutation_p.H183L	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	183								p.H183L(1)		endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CAGGAGTTGCATGCTAAGGTA	0.627													16	66					0	0	0.539581	0	0	T	38895746	A	T	38895746	3	4	17	1	0	0	0	0	1	0	0	0	5691	217	8	5	562	5	FAM98C	19	38895746	Missense_Mutation	SNP	A	TCGA-CH-5762-01A-11D-1576-08	19523882	38895746	20233237	96	973											
ZNF264	0	broad.mit.edu	37	chr19	57723318	57723326	+	In_Frame_Del	DEL	AAGCCTTAC	AAGCCTTAC	-																															agcggattcacagtggagagAagccttacaagtgcaatgaa																								rs149508999	byFrequency	TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr19:57723318_57723326delAAGCCTTAC	ENST00000263095.6	+	4	1267_1275	c.853_861delAAGCCTTAC	c.(853-861)del	p.KPY285del	ZNF264_ENST00000536056.1_In_Frame_Del_p.KPY285del	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		CAGTGGAGAGAAGCCTTACAAGTGCAATG	0.507													14	144	---	---	---	---						-	57723326	AAGCCTTAC	-	57723318	7	5	17	1	0	1	0	1	0	0	0	0	17862	247	9	0	867	0	ZNF264	19	57723318	In_Frame_Del	DEL	AAGCCTTAC	TCGA-CH-5762-01A-11D-1576-08	18827572	57723318	1405665	97	974											
BFSP1	631	broad.mit.edu	37	chr20	17475376	17475376	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctcactttctccttgacCttcctgtatagtttcccaaa	7	17	3	14	0	2	1	1	1	2	0	6	1	4	1	4	0	0	2	4	0	3	7			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr20:17475376C>A	ENST00000377873.3	-	8	1380	c.1341G>T	c.(1339-1341)aaG>aaT	p.K447N	BFSP1_ENST00000377868.2_Missense_Mutation_p.K322N|BFSP1_ENST00000544874.1_Missense_Mutation_p.K308N|BFSP1_ENST00000536626.1_Missense_Mutation_p.K308N	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	447	Tail.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens	p.K447N(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						TCTCCTTGACCTTCCTGTATA	0.527													35	217					6.29468e-14	7.20696e-14	0.804634	1	0	A	17475376	C	A	17475376	3	1	17	1	0	0	0	0	1	0	0	0	1414	680	24	4	660	4	BFSP1	20	17475376	Missense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08		17475376	45550144	98	975											
RAE1	8480	broad.mit.edu	37	chr20	55948566	55948566	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttttaaagacaaacagaaCaagcctactggttttgccct	14	12	6	9	0	0	2	0	0	0	2	0	2	0	2	2	1	5	1	2	1	6	6			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr20:55948566C>G	ENST00000395841.2	+	9	1098	c.678C>G	c.(676-678)aaC>aaG	p.N226K	RAE1_ENST00000371242.2_Missense_Mutation_p.N226K|RAE1_ENST00000527947.1_Missense_Mutation_p.N226K|RAE1_ENST00000395840.2_Missense_Mutation_p.N226K	NM_003610.3	NP_003601.1	P78406	RAE1L_HUMAN	ribonucleic acid export 1	226					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|cytoskeleton|nuclear outer membrane|nuclear pore	microtubule binding|RNA binding	p.N226K(1)		breast(1)|endometrium(5)|large_intestine(4)|lung(6)|prostate(3)|skin(2)	21	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)			ACAAACAGAACAAGCCTACTG	0.408													24	176					0	0	0.654019	0	0	G	55948566	C	G	55948566	3	3	17	1	0	0	0	0	1	0	0	0	13050	477	17	4	708	4	RAE1	20	55948566	Missense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08	38473190	55948566	7076954	99	976											
CDH4	1002	broad.mit.edu	37	chr20	60504782	60504782	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccaacacgtccatcatcaaAgtcaaggtgtgcccatgtga	12	9	8	12	1	3	1	3	1	0	0	5	1	5	1	3	1	2	0	3	1	3	0			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr20:60504782A>T	ENST00000360469.5	+	13	2209	c.2121A>T	c.(2119-2121)aaA>aaT	p.K707N	CDH4_ENST00000543233.1_Missense_Mutation_p.K633N	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	707	Cadherin 5.				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)			CCATCATCAAAGTCAAGGTGT	0.592													5	199					0	0	0.184627	0	0	T	60504782	A	T	60504782	3	4	17	1	0	0	0	0	1	0	0	0	3134	69	3	5	2171	5	CDH4	20	60504782	Missense_Mutation	SNP	A	TCGA-CH-5762-01A-11D-1576-08	4556216	60504782	2520738	100	977											
EEF1A2	1917	broad.mit.edu	37	chr20	62121900	62121900	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccacacacgttgccccgccGgatgtccttcaccgacacgt	7	7	8	19	5	1	0	1	0	0	0	2	2	2	1	6	1	1	1	6	1	0	2			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr20:62121900G>A	ENST00000217182.3	-	6	1126	c.961C>T	c.(961-963)Cgg>Tgg	p.R321W	EEF1A2_ENST00000298049.7_Missense_Mutation_p.R321W	NM_001958.3	NP_001949.1	Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	321						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			TTGCCCCGCCGGATGTCCTTC	0.647													13	228					0	0	0.479597	0	0	A	62121900	G	A	62121900	3	1	17	1	0	0	0	0	1	0	0	0	4950	1115	39	1	442	1	EEF1A2	20	62121900	Missense_Mutation	SNP	G	TCGA-CH-5762-01A-11D-1576-08	1617118	62121900	903620	101	978											
SRRD	402055	broad.mit.edu	37	chr22	26884148	26884148	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aagagagatcttggtcacagGaacctgccatttgaagtgtg	12	10	12	7	0	2	3	1	1	1	2	2	5	2	4	2	2	2	0	2	2	3	2			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr22:26884148G>C	ENST00000215917.6	+	3	418	c.404G>C	c.(403-405)gGa>gCa	p.G135A		NM_001013694.2	NP_001013716.2	Q9UH36	SRR1L_HUMAN	SRR1 domain containing	135					rhythmic process			p.G135E(1)|p.G135A(1)		endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						TTGGTCACAGGAACCTGCCAT	0.468													52	210					0	0	0.870114	0	0	C	26884148	G	C	26884148	3	2	17	1	0	0	0	0	1	0	0	0	15223	1174	41	4	414	4	SRRD	22	26884148	Missense_Mutation	SNP	G	TCGA-CH-5762-01A-11D-1576-08		26884148	24420418	102	979											
LIMK2	3985	broad.mit.edu	37	chr22	31667167	31667167	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaccgggatctgaactcgCacaactgcctcatcaagttg	10	9	8	14	2	3	1	2	1	1	0	5	2	4	2	3	1	3	2	3	1	3	1			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chr22:31667167C>A	ENST00000331728.4	+	12	1477	c.1363C>A	c.(1363-1365)Cac>Aac	p.H455N	LIMK2_ENST00000444929.2_Missense_Mutation_p.H209N|LIMK2_ENST00000406516.1_Missense_Mutation_p.H377N|LIMK2_ENST00000340552.4_Missense_Mutation_p.H434N|LIMK2_ENST00000333611.4_Missense_Mutation_p.H434N	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	455	Protein kinase.					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding	p.H455N(2)		endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						TCTGAACTCGCACAACTGCCT	0.542													29	158					2.46105e-21	2.90184e-21	0.750413	1	0	A	31667167	C	A	31667167	3	1	17	1	0	0	0	0	1	0	0	0	8842	710	25	4	1466	4	LIMK2	22	31667167	Missense_Mutation	SNP	C	TCGA-CH-5762-01A-11D-1576-08	4783019	31667167	19637399	103	980											
NLGN4X	57502	broad.mit.edu	37	chrX	5821237	5821237	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggggatgccgaagacataGgggacctcatcaccatgggc	11	6	14	10	1	2	1	2	0	0	1	2	4	2	3	3	5	1	0	3	5	2	1	rs146227486		TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chrX:5821237G>C	ENST00000381095.3	-	5	2109	c.1482C>G	c.(1480-1482)ccC>ccG	p.P494P	NLGN4X_ENST00000381093.2_Silent_p.P514P|NLGN4X_ENST00000538097.1_Silent_p.P494P|NLGN4X_ENST00000381092.1_Silent_p.P494P|NLGN4X_ENST00000275857.6_Silent_p.P494P	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	494					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	p.P494P(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						CGAAGACATAGGGGACCTCAT	0.552													11	72					0	0	0.361761	0	0	C	5821237	G	C	5821237	2	2	17	1	0	0	0	0	0	0	0	1	10511	987	35	4		4	NLGN4X	23	5821237	Silent	SNP	G	TCGA-CH-5762-01A-11D-1576-08		5821237	149449323	104	981											
DMD	1756	broad.mit.edu	37	chrX	32380926	32380926	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccagtcttaattctgtgTgaaatggctgcaaatcgatg	10	15	9	7	1	2	1	0	1	2	0	4	2	3	1	1	1	1	2	1	1	3	3			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chrX:32380926T>C	ENST00000357033.4	-	37	5510	c.5304A>G	c.(5302-5304)tcA>tcG	p.S1768S	DMD_ENST00000378677.2_Silent_p.S1764S	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1768	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TAATTCTGTGTGAAATGGCTG	0.478													5	150					0	0	0.217242	0	0	C	32380926	T	C	32380926	2	2	17	1	0	0	0	0	0	0	0	1	4608	1683	59	3		3	DMD	23	32380926	Silent	SNP	T	TCGA-CH-5762-01A-11D-1576-08	26559689	32380926	122889634	105	982											
GAB3	139716	broad.mit.edu	37	chrX	153940643	153940643	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggcttggcttaggggggcgGggaggtggagtgttggacat	5	10	22	4	1	0	0	0	0	0	0	0	3	0	3	0	10	0	3	0	10	1	3			TCGA-CH-5762-01A-11D-1576-08	TCGA-CH-5762-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61f27ebd-983d-453c-973f-2a30696c9729	7166fd58-0cd4-41bd-9a06-dc48d9b4e6ca	g.chrX:153940643G>C	ENST00000369575.3	-	4	958	c.927C>G	c.(925-927)ccC>ccG	p.P309P	GAB3_ENST00000496390.1_Intron|GAB3_ENST00000424127.2_Silent_p.P310P	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	309								p.P309P(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TAGGGGGGCGGGGAGGTGGAG	0.488													17	164					0	0	0.520397	0	0	C	153940643	G	C	153940643	2	2	17	1	0	0	0	0	0	0	0	1	6185	1219	43	4		4	GAB3	23	153940643	Silent	SNP	G	TCGA-CH-5762-01A-11D-1576-08	121559717	153940643	1329917	106	983											
UBR4	23352	broad.mit.edu	37	chr1	19493625	19493625	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggcccaagatgcgttccaGggagttgctactgatctcgg	8	9	14	10	2	1	2	0	1	1	1	3	3	2	3	2	3	3	3	2	3	2	3			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr1:19493625G>C	ENST00000375267.2	-	29	4003	c.4000C>G	c.(4000-4002)Ctg>Gtg	p.L1334V	UBR4_ENST00000375226.2_Missense_Mutation_p.L1334V|UBR4_ENST00000375254.3_Missense_Mutation_p.L1334V|UBR4_ENST00000375217.2_Missense_Mutation_p.L1334V			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1334					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ATGCGTTCCAGGGAGTTGCTA	0.483													6	192					0	0	1	0	0	C	19493625	G	C	19493625	3	2	18	1	0	0	0	0	1	0	0	0	16965	991	35	4	11863	4	UBR4	1	19493625	Missense_Mutation	SNP	G	TCGA-CH-5763-01A-11D-1576-08		19493625	229756996	1	984											
RGS7	6000	broad.mit.edu	37	chr1	240977013	240977013	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtattctaaatactgttcCgtgtaacttagtagactaag	12	15	7	7	2	1	1	0	0	1	1	3	1	2	1	1	0	2	4	1	0	8	9			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr1:240977013C>A	ENST00000366565.1	-	13	1242	c.861G>T	c.(859-861)acG>acT	p.T287T	RGS7_ENST00000331110.7_Silent_p.T261T|RGS7_ENST00000401882.1_Silent_p.T234T|RGS7_ENST00000366563.1_Silent_p.T287T|RGS7_ENST00000348120.2_Silent_p.T234T|RGS7_ENST00000366564.1_Silent_p.T287T|RGS7_ENST00000366562.4_Silent_p.T287T|RGS7_ENST00000446183.2_Silent_p.T203T|RGS7_ENST00000407727.1_Silent_p.T287T	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	287	G protein gamma.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	p.T287T(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			AATACTGTTCCGTGTAACTTA	0.433													8	89					0.00448238	0.00481856	1	1	0	A	240977013	C	A	240977013	2	1	18	1	0	0	0	0	0	0	0	1	13360	639	23	4		4	RGS7	1	240977013	Silent	SNP	C	TCGA-CH-5763-01A-11D-1576-08	221483388	240977013	8273608	2	985											
NCKAP1	10787	broad.mit.edu	37	chr2	183846059	183846059	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggtccgtatttcctcacAtgtgctctaagttcttccat	8	15	6	12	1	3	0	1	0	2	0	6	0	6	0	3	1	1	3	3	1	2	5			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr2:183846059A>G	ENST00000360982.2	-	14	2030	c.1272T>C	c.(1270-1272)caT>caC	p.H424H	NCKAP1_ENST00000361354.3_Silent_p.H418H	NM_205842.1	NP_995314.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	418					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding	p.H424H(1)		breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			ATTTCCTCACATGTGCTCTAA	0.328													7	109					0	0	1	0	0	G	183846059	A	G	183846059	2	3	18	1	0	0	0	0	0	0	0	1	10268	214	8	3		3	NCKAP1	2	183846059	Silent	SNP	A	TCGA-CH-5763-01A-11D-1576-08		183846059	59353314	3	986											
CCDC140	151278	broad.mit.edu	37	chr2	223168894	223168894	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgcagagaggcgttttgaaGagtgctgcgcgcacctgcct	7	9	14	11	3	0	3	0	1	0	2	0	4	0	3	2	1	4	4	2	1	1	2			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr2:223168894G>C	ENST00000295226.1	+	2	657	c.273G>C	c.(271-273)aaG>aaC	p.K91N		NM_153038.1	NP_694583.1	Q96MF4	CC140_HUMAN	coiled-coil domain containing 140	91								p.K91N(1)		endometrium(4)|large_intestine(1)|prostate(1)	6		Renal(207;0.0376)		Epithelial(121;4.03e-10)|all cancers(144;1.8e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCGTTTTGAAGAGTGCTGCGC	0.662													3	40					0	0	1	0	0	C	223168894	G	C	223168894	3	2	18	1	0	0	0	0	1	0	0	0	2792	933	33	4	275	4	CCDC140	2	223168894	Missense_Mutation	SNP	G	TCGA-CH-5763-01A-11D-1576-08	39322835	223168894	20030479	4	987											
FOXP1	27086	broad.mit.edu	37	chr3	71027051	71027051	+	Frame_Shift_Del	DEL	T	T	-																															caccgtgtgcatgctggtggTtgtgatgacagaggggcctt																										TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr3:71027051delT	ENST00000318789.4	-	15	1801	c.1276delA	c.(1276-1278)ccfs	p.T427fs	FOXP1_ENST00000475937.1_Frame_Shift_Del_p.T427fs|FOXP1_ENST00000498215.1_Frame_Shift_Del_p.T427fs|FOXP1_ENST00000484350.1_Frame_Shift_Del_p.T351fs|FOXP1_ENST00000491238.1_Frame_Shift_Del_p.T429fs|FOXP1_ENST00000493089.1_Frame_Shift_Del_p.T427fs|FOXP1_ENST00000468577.1_Frame_Shift_Del_p.T427fs	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	427					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		ATGCTGGTGGTTGTGATGACA	0.577			T	PAX5	ALL								11	265	---	---	---	---						-	71027051	T	-	71027051	7	5	18	1	0	1	0	1	0	0	0	0	6060	1725	60	0	785	0	FOXP1	3	71027051	Frame_Shift_Del	DEL	T	TCGA-CH-5763-01A-11D-1576-08		71027051	126995379	5	988											
BCL6	604	broad.mit.edu	37	chr3	187447376	187447376	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcagccacactgtagtgcaTatcacttcgtgcctcttctg	7	13	7	14	1	4	0	2	0	2	0	5	0	4	0	2	0	3	2	2	0	2	4	rs139857005		TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr3:187447376T>C	ENST00000406870.2	-	5	1183	c.817A>G	c.(817-819)Atg>Gtg	p.M273V	RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.M273V|RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000450123.2_Missense_Mutation_p.M273V	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	273					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.M273V(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		CTGTAGTGCATATCACTTCGT	0.547			"T, Mis"	"IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"	"NHL, CLL"								7	122					0	0	1	0	0	C	187447376	T	C	187447376	3	2	18	1	0	0	0	0	1	0	0	0	1374	1406	49	3	1327	3	BCL6	3	187447376	Missense_Mutation	SNP	T	TCGA-CH-5763-01A-11D-1576-08	116420325	187447376	10575054	6	989											
TNIP3	79931	broad.mit.edu	37	chr4	122075727	122075727	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttattgaggcgttttatttcAcattcgtaatgttccttttc	7	21	6	7	2	1	1	1	1	0	0	4	1	2	1	1	1	0	3	1	1	3	10			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr4:122075727A>G	ENST00000454328.1	-	7	698	c.471T>C	c.(469-471)tgT>tgC	p.C157C	TNIP3_ENST00000057513.3_Silent_p.C157C|TNIP3_ENST00000507879.1_Silent_p.C227C|TNIP3_ENST00000509841.1_Silent_p.C234C			Q96KP6	TNIP3_HUMAN	TNFAIP3 interacting protein 3	157								p.C157C(1)		NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						GTTTTATTTCACATTCGTAAT	0.348													7	260					0	0	1	0	0	G	122075727	A	G	122075727	2	3	18	1	0	0	0	0	0	0	0	1	16376	157	6	3		3	TNIP3	4	122075727	Silent	SNP	A	TCGA-CH-5763-01A-11D-1576-08		122075727	69078549	7	990											
TLL1	7092	broad.mit.edu	37	chr4	166981195	166981195	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctagctgcttgtggtggacTtcttaccaaacttaacggca	9	13	9	10	1	2	0	0	0	2	0	2	1	2	1	1	3	5	3	1	3	4	5			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr4:166981195T>C	ENST00000061240.2	+	15	2509	c.1862T>C	c.(1861-1863)cTt>cCt	p.L621P	TLL1_ENST00000507499.1_Missense_Mutation_p.L644P	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	621	CUB 3.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TGTGGTGGACTTCTTACCAAA	0.458													5	118					0	0	1	0	0	C	166981195	T	C	166981195	3	2	18	1	0	0	0	0	1	0	0	0	16005	1609	56	3	1920	3	TLL1	4	166981195	Missense_Mutation	SNP	T	TCGA-CH-5763-01A-11D-1576-08	44905468	166981195	24173081	8	991											
SNCAIP	9627	broad.mit.edu	37	chr5	121739540	121739540	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actgtgccgaagatgtgataCgcaaaacgaagacagatcag	16	6	11	8	3	1	4	1	1	0	3	1	6	1	4	1	0	3	1	1	0	5	1			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr5:121739540C>T	ENST00000261367.7	+	5	1679	c.251C>T	c.(250-252)aCg>aTg	p.T84M	SNCAIP_ENST00000504884.2_Missense_Mutation_p.T37M|SNCAIP_ENST00000379536.2_Missense_Mutation_p.T37M|SNCAIP_ENST00000261368.8_Missense_Mutation_p.T37M|SNCAIP_ENST00000503116.2_Missense_Mutation_p.T84M|SNCAIP_ENST00000414317.2_Missense_Mutation_p.R28C|SNCAIP_ENST00000379533.2_Missense_Mutation_p.T84M|SNCAIP_ENST00000379538.3_Missense_Mutation_p.R22C|SNCAIP_ENST00000542191.1_5'UTR			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	37					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding	p.T84M(2)|p.T37M(1)		NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		AGATGTGATACGCAAAACGAA	0.463													12	169					0	0	1	0	0	T	121739540	C	T	121739540	3	4	18	1	0	0	0	0	1	0	0	0	14895	536	19	1	116	1	SNCAIP	5	121739540	Missense_Mutation	SNP	C	TCGA-CH-5763-01A-11D-1576-08		121739540	59175720	9	992											
TNXB	7148	broad.mit.edu	37	chr6	32037587	32037587	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcagctcctcccccagaCggggttttgggggacgcttt	4	10	13	14	2	0	1	0	0	0	1	2	2	2	2	4	4	2	4	4	4	0	3			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr6:32037587C>T	ENST00000375244.3	-	15	5531	c.5330G>A	c.(5329-5331)cGt>cAt	p.R1777H	TNXB_ENST00000375247.2_Missense_Mutation_p.R1777H			P22105	TENX_HUMAN	tenascin XB	1859	Fibronectin type-III 10.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	p.R1864H(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CTCCCCCAGACGGGGTTTTGG	0.582													3	42					0	0	1	0	0	T	32037587	C	T	32037587	3	4	18	1	0	0	0	0	1	0	0	0	16406	536	19	1	9503	1	TNXB	6	32037587	Missense_Mutation	SNP	C	TCGA-CH-5763-01A-11D-1576-08		32037587	139077480	10	993											
DAAM2	23500	broad.mit.edu	37	chr6	39832798	39832798	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaggaggagacggagatgAggaaccaagtcgtggaagac	15	4	17	5	2	0	5	0	2	0	3	1	10	0	8	1	5	1	0	1	5	3	0			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr6:39832798A>G	ENST00000538976.1	+	5	558	c.376A>G	c.(376-378)Agg>Ggg	p.R126G	DAAM2_ENST00000398904.2_Missense_Mutation_p.R126G|DAAM2_ENST00000494405.1_3'UTR|DAAM2_ENST00000274867.4_Missense_Mutation_p.R126G	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	126	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding	p.R126G(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					GACGGAGATGAGGAACCAAGT	0.557											OREG0017416	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	14					0	0	1	0	0	G	39832798	A	G	39832798	3	3	18	1	0	0	0	0	1	0	0	0	4240	295	11	3	390	3	DAAM2	6	39832798	Missense_Mutation	SNP	A	TCGA-CH-5763-01A-11D-1576-08	7795211	39832798	131282269	11	994											
ZER1	10444	broad.mit.edu	37	chr9	131503068	131503068	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacctgaagacgctgatgaaCtgggaagtcattagttgagg	13	9	13	6	1	1	5	1	4	0	1	1	6	1	6	1	2	2	2	1	2	5	2			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr9:131503068C>T	ENST00000291900.2	-	12	2242	c.1836G>A	c.(1834-1836)caG>caA	p.Q612Q		NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	612					ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity	p.Q612Q(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						CGCTGATGAACTGGGAAGTCA	0.468													8	166					0	0	1	0	0	T	131503068	C	T	131503068	2	4	18	1	0	0	0	0	0	0	0	1	17683	564	20	2		2	ZER1	9	131503068	Silent	SNP	C	TCGA-CH-5763-01A-11D-1576-08		131503068	9710363	12	995											
UBQLN3	50613	broad.mit.edu	37	chr11	5529391	5529391	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagggattccaggaatggcTgccgtgggggaaaaagataa	13	7	15	6	1	1	1	1	0	0	1	2	4	2	4	2	5	1	1	2	5	4	2			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr11:5529391T>C	ENST00000311659.4	-	2	1545	c.1398A>G	c.(1396-1398)gcA>gcG	p.A466A	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	466										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGGAATGGCTGCCGTGGGGG	0.547													5	102					0	0	1	0	0	C	5529391	T	C	5529391	2	2	18	1	0	0	0	0	0	0	0	1	16959	1567	55	3		3	UBQLN3	11	5529391	Silent	SNP	T	TCGA-CH-5763-01A-11D-1576-08		5529391	129477125	13	996											
TRIM6	117854	broad.mit.edu	37	chr11	5632424	5632424	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggttttcttagattatgAggctggtactgtctcctttt	5	19	11	6	0	2	2	0	1	2	1	3	2	2	2	1	4	1	3	1	4	3	7			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr11:5632424A>G	ENST00000380097.3	+	8	1645	c.1403A>G	c.(1402-1404)gAg>gGg	p.E468G	TRIM6_ENST00000507320.1_Missense_Mutation_p.E265G|AC015691.13_ENST00000394793.2_RNA|TRIM6_ENST00000481603.1_3'UTR|TRIM6_ENST00000278302.5_Missense_Mutation_p.E440G|TRIM6_ENST00000445329.1_Missense_Mutation_p.E265G|TRIM6_ENST00000380107.1_Missense_Mutation_p.E414G|HBG2_ENST00000380259.2_Intron|TRIM6_ENST00000515022.1_Missense_Mutation_p.E265G|TRIM6_ENST00000506134.1_Missense_Mutation_p.E265G|TRIM6-TRIM34_ENST00000354852.5_Intron	NM_001003818.2|NM_001198644.1|NM_001198645.1	NP_001003818.1|NP_001185573.1|NP_001185574.1			tripartite motif containing 6									p.E468G(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		TTAGATTATGAGGCTGGTACT	0.433													14	316					0	0	1	0	0	G	5632424	A	G	5632424	3	3	18	1	0	0	0	0	1	0	0	0	16594	304	11	3	1433	3	TRIM6	11	5632424	Missense_Mutation	SNP	A	TCGA-CH-5763-01A-11D-1576-08	103033	5632424	129374092	14	997											
OR5B17	219965	broad.mit.edu	37	chr11	58126475	58126475	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taaacatgataaagaggggaAcctgtagttctggggcattg	13	10	13	5	0	1	2	0	1	1	1	1	3	1	3	1	4	2	3	1	4	6	5			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr11:58126475A>C	ENST00000357377.3	-	1	67	c.68T>G	c.(67-69)gTt>gGt	p.V23G		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V23G(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AAAGAGGGGAACCTGTAGTTC	0.438													11	166					0	0	1	0	0	C	58126475	A	C	58126475	3	2	18	1	0	0	0	0	1	0	0	0	11196	43	2	5	878	5	OR5B17	11	58126475	Missense_Mutation	SNP	A	TCGA-CH-5763-01A-11D-1576-08	52494051	58126475	76880041	15	998											
GRIA4	0	broad.mit.edu	37	chr11	105774694	105774694	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagggaattgacatggagaGgacactcaaacaggtaactc	15	6	11	9	0	1	2	1	1	0	1	2	5	1	4	1	4	2	1	1	4	3	2			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr11:105774694G>A	ENST00000393127.2	+	8	1486	c.1040G>A	c.(1039-1041)aGg>aAg	p.R347K	GRIA4_ENST00000282499.5_Missense_Mutation_p.R347K|GRIA4_ENST00000530497.1_Missense_Mutation_p.R347K|GRIA4_ENST00000393125.2_Missense_Mutation_p.R347K|GRIA4_ENST00000428631.2_Missense_Mutation_p.R347K|GRIA4_ENST00000525187.1_Missense_Mutation_p.R347K	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	347					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	GACATGGAGAGGACACTCAAA	0.398													4	111					0	0	1	0	0	A	105774694	G	A	105774694	3	1	18	1	0	0	0	0	1	0	0	0	6811	1000	35	2	1066	2	GRIA4	11	105774694	Missense_Mutation	SNP	G	TCGA-CH-5763-01A-11D-1576-08	47648219	105774694	29231822	16	999											
DRD2	1813	broad.mit.edu	37	chr11	113295366	113295366	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cataccaggacagattcagtGgatccatcagggcggtggag	11	7	14	9	1	2	1	2	0	0	1	3	4	3	4	2	5	1	0	2	5	1	2			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr11:113295366G>A	ENST00000362072.3	-	2	352	c.8C>T	c.(7-9)cCa>cTa	p.P3L	DRD2_ENST00000544518.1_Missense_Mutation_p.P3L|DRD2_ENST00000346454.3_Missense_Mutation_p.P3L|DRD2_ENST00000538967.1_Missense_Mutation_p.P3L|DRD2_ENST00000542968.1_Missense_Mutation_p.P3L|DRD2_ENST00000355319.2_Missense_Mutation_p.P3L	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	3					activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding	p.P3L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	CAGATTCAGTGGATCCATCAG	0.582													4	79					0	0	1	0	0	A	113295366	G	A	113295366	3	1	18	1	0	0	0	0	1	0	0	0	4783	1348	47	2	1351	2	DRD2	11	113295366	Missense_Mutation	SNP	G	TCGA-CH-5763-01A-11D-1576-08	7520672	113295366	21711150	17	1000											
LRIG3	121227	broad.mit.edu	37	chr12	59267899	59267899	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttgcactaaaatctaaagagGacttgtttagacacagattt	15	13	7	6	0	1	3	0	0	1	3	1	4	1	4	0	1	1	2	0	1	5	7			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr12:59267899G>A	ENST00000320743.3	-	18	3339	c.3053C>T	c.(3052-3054)tCc>tTc	p.S1018F	LRIG3_ENST00000379141.4_Missense_Mutation_p.S958F	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	1018						integral to membrane		p.S1018F(2)	LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			ATCTAAAGAGGACTTGTTTAG	0.403			T	ROS1	NSCLC								11	219					0	0	1	0	0	A	59267899	G	A	59267899	3	1	18	1	0	0	0	0	1	0	0	0	8991	1174	41	2	314	2	LRIG3	12	59267899	Missense_Mutation	SNP	G	TCGA-CH-5763-01A-11D-1576-08		59267899	74583996	18	1001											
MED13L	23389	broad.mit.edu	37	chr12	116446661	116446661	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatatttcctactgctagaCacctctaaggaggagtctat	11	13	7	10	0	3	1	1	0	2	1	4	3	4	3	2	2	2	1	2	2	5	6			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr12:116446661C>A	ENST00000281928.3	-	10	1763	c.1557G>T	c.(1555-1557)gtG>gtT	p.V519V		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	519					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			p.V519V(1)		NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TACTGCTAGACACCTCTAAGG	0.453													7	97					0.000157383	0.000182905	1	1	0	A	116446661	C	A	116446661	2	1	18	1	0	0	0	0	0	0	0	1	9481	465	17	4		4	MED13L	12	116446661	Silent	SNP	C	TCGA-CH-5763-01A-11D-1576-08	57178762	116446661	17405234	19	1002											
P2RX2	0	broad.mit.edu	37	chr12	133197607	133197607	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtggtgtcatcggggtcatTatcaactgggactgtgacct	7	12	14	8	1	3	1	3	1	0	0	4	2	3	2	1	5	1	0	1	5	2	1			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr12:133197607T>C	ENST00000389110.3	+	8	832	c.795T>C	c.(793-795)atT>atC	p.I265I	P2RX2_ENST00000343948.4_Silent_p.I265I|P2RX2_ENST00000350048.5_Silent_p.I241I|P2RX2_ENST00000348800.5_Silent_p.I265I|P2RX2_ENST00000449132.2_Silent_p.I231I|P2RX2_ENST00000351222.4_Silent_p.I173I|P2RX2_ENST00000352418.4_Silent_p.I193I	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 2	265					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity	p.I265I(1)		NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		TCGGGGTCATTATCAACTGGG	0.637													5	84					0	0	1	0	0	C	133197607	T	C	133197607	2	2	18	1	0	0	0	0	0	0	0	1	11387	1742	61	3		3	P2RX2	12	133197607	Silent	SNP	T	TCGA-CH-5763-01A-11D-1576-08	16750946	133197607	654288	20	1003											
MTHFD1	4522	broad.mit.edu	37	chr14	64909059	64909059	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccggtattccggcctctgccCccacgtggtggtgcttgttg	2	12	13	14	3	1	0	0	0	1	0	2	0	2	0	5	4	2	3	5	4	1	4			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr14:64909059C>G	ENST00000555709.1	+	21	2462	c.2075C>G	c.(2074-2076)cCc>cGc	p.P692R	MTHFD1_ENST00000216605.7_Missense_Mutation_p.P748R|MTHFD1_ENST00000545908.1_Missense_Mutation_p.P748R|CTD-2555O16.2_ENST00000556640.1_RNA	NM_005956.3	NP_005947.3	P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	692	Formyltetrahydrofolate synthetase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding	p.P692R(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	GGCCTCTGCCCCCACGTGGTG	0.527													5	154					0	0	1	0	0	G	64909059	C	G	64909059	3	3	18	1	0	0	0	0	1	0	0	0	9975	623	22	4	2157	4	MTHFD1	14	64909059	Missense_Mutation	SNP	C	TCGA-CH-5763-01A-11D-1576-08		64909059	42440481	21	1004											
AK7	122481	broad.mit.edu	37	chr14	96909069	96909069	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcttttcttcctttcagatGgcttggttgggcgagattcc	4	17	11	9	1	2	2	1	0	1	2	4	3	4	2	2	3	1	3	2	3	0	7			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr14:96909069G>A	ENST00000267584.4	+	7	737	c.693G>A	c.(691-693)atG>atA	p.M231I		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	231					cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	p.M231I(2)		breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		CCTTTCAGATGGCTTGGTTGG	0.443													13	402					0	0	1	0	0	A	96909069	G	A	96909069	3	1	18	1	0	0	0	0	1	0	0	0	441	1348	47	2	719	2	AK7	14	96909069	Missense_Mutation	SNP	G	TCGA-CH-5763-01A-11D-1576-08	32000010	96909069	10440471	22	1005											
GAS8	2622	broad.mit.edu	37	chr16	90097783	90097783	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaactacttccagctggagcGggacaagatccacaccttct	12	8	8	13	1	1	1	0	0	1	1	3	3	3	3	3	2	4	1	3	2	3	3			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr16:90097783G>T	ENST00000268699.4	+	3	289	c.167G>T	c.(166-168)cGg>cTg	p.R56L	GAS8_ENST00000540721.1_3'UTR|GAS8_ENST00000536122.1_Missense_Mutation_p.R31L	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8	56	Regulates microtubule-binding (By similarity).				negative regulation of cell proliferation|sperm motility	cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum	protein binding			endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		CAGCTGGAGCGGGACAAGATC	0.617													3	61					1	1	1	1	0	T	90097783	G	T	90097783	3	4	18	1	0	0	0	0	1	0	0	0	6291	1116	39	4	177	4	GAS8	16	90097783	Missense_Mutation	SNP	G	TCGA-CH-5763-01A-11D-1576-08		90097783	256970	23	1006											
MED1	5469	broad.mit.edu	37	chr17	37566389	37566390	+	Frame_Shift_Del	DEL	TA	TA	-																															tgctttggtttctcaggtggTaatcttgatgacttcttttt																										TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr17:37566389_37566390delTA	ENST00000300651.6	-	17	2307_2308	c.2084_2085delTA	c.(2083-2085)tfs	p.L695fs	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	695	Interaction with ESR1.|Interaction with GATA1 (By similarity).|Interaction with PPARGC1A and THRA.|Interaction with VDR.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TCTCAGGTGGTAATCTTGATGA	0.46										HNSCC(31;0.082)			15	410	---	---	---	---						-	37566390	TA	-	37566389	7	5	18	1	0	1	0	1	0	0	0	0	9475	1635	57	0	2664	0	MED1	17	37566389	Frame_Shift_Del	DEL	TA	TCGA-CH-5763-01A-11D-1576-08		37566389	43628821	24	1007											
UBTF	7343	broad.mit.edu	37	chr17	42293143	42293143	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccatgaagaagcggaaataaGgggtcaggggcttctttggg	11	8	16	6	1	2	2	1	1	1	1	2	3	2	3	1	6	1	1	1	6	4	3			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr17:42293143G>A	ENST00000302904.4	-	5	845	c.353C>T	c.(352-354)cCt>cTt	p.P118L	UBTF_ENST00000537550.1_5'UTR|UBTF_ENST00000527034.1_Missense_Mutation_p.P118L|UBTF_ENST00000533177.1_Missense_Mutation_p.P118L|UBTF_ENST00000343638.5_Missense_Mutation_p.P118L|UBTF_ENST00000529383.1_Missense_Mutation_p.P118L|UBTF_ENST00000526094.1_Missense_Mutation_p.P118L|UBTF_ENST00000436088.1_Missense_Mutation_p.P118L|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000393606.3_Missense_Mutation_p.P118L			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	118					positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding	p.P118L(1)		breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GCGGAAATAAGGGGTCAGGGG	0.488													7	162					0	0	1	0	0	A	42293143	G	A	42293143	3	1	18	1	0	0	0	0	1	0	0	0	16970	1000	35	2	2009	2	UBTF	17	42293143	Missense_Mutation	SNP	G	TCGA-CH-5763-01A-11D-1576-08	4726754	42293143	38902067	25	1008											
SAMD14	201191	broad.mit.edu	37	chr17	48193048	48193048	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaccaggaaaaaggcaggaaCggggagccccctgacctgcc	13	2	13	13	1	0	1	0	1	0	0	0	4	0	4	5	5	4	1	5	5	4	0			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr17:48193048C>T	ENST00000330175.4	-	7	1019	c.702G>A	c.(700-702)ccG>ccA	p.P234P	SAMD14_ENST00000503131.1_Silent_p.P234P	NM_001257359.1	NP_001244288.1	Q8IZD0	SAM14_HUMAN	sterile alpha motif domain containing 14	234										breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						AAGGCAGGAACGGGGAGCCCC	0.642													7	191					0	0	1	0	0	T	48193048	C	T	48193048	2	4	18	1	0	0	0	0	0	0	0	1	13871	523	19	1		1	SAMD14	17	48193048	Silent	SNP	C	TCGA-CH-5763-01A-11D-1576-08	5899905	48193048	33002162	26	1009											
SGSH	6448	broad.mit.edu	37	chr17	78188012	78188012	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcctggggggtccagtctgGgatacgacccatgccgctct	5	8	15	13	2	2	0	0	0	2	0	3	2	3	1	4	5	2	1	4	5	1	1			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr17:78188012G>T	ENST00000326317.6	-	5	708	c.622C>A	c.(622-624)Cca>Aca	p.P208T	SGSH_ENST00000572208.1_5'UTR|SGSH_ENST00000534910.1_Missense_Mutation_p.P5T|SGSH_ENST00000570923.1_Silent_p.S219S	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase	208					proteoglycan metabolic process	lysosome	metal ion binding|N-sulfoglucosamine sulfohydrolase activity|sulfuric ester hydrolase activity	p.P208T(1)		central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GTCCAGTCTGGGATACGACCC	0.667													4	31					0.0215528	0.0226041	1	1	0	T	78188012	G	T	78188012	3	4	18	1	0	0	0	0	1	0	0	0	14275	1232	43	4	902	4	SGSH	17	78188012	Missense_Mutation	SNP	G	TCGA-CH-5763-01A-11D-1576-08	29994964	78188012	3007198	27	1010											
ZNF441	126068	broad.mit.edu	37	chr19	11892189	11892189	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagctttgattctcccagttCatttcgaagacatgaaagaa	14	12	7	8	1	2	4	1	2	1	2	4	5	2	4	1	0	1	2	1	0	4	4			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr19:11892189C>T	ENST00000357901.4	+	4	1652	c.1550C>T	c.(1549-1551)tCa>tTa	p.S517L	ZNF441_ENST00000454339.2_Missense_Mutation_p.S450L	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	517					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S517L(1)|p.S450L(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCTCCCAGTTCATTTCGAAGA	0.398													8	160					0	0	1	0	0	T	11892189	C	T	11892189	3	4	18	1	0	0	0	0	1	0	0	0	17971	838	29	2	1564	2	ZNF441	19	11892189	Missense_Mutation	SNP	C	TCGA-CH-5763-01A-11D-1576-08		11892189	47236794	28	1011											
C22orf29	79680	broad.mit.edu	37	chr22	19838698	19838698	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgggctgtgttcagaaccCaggagaaagtggtggctctc	8	9	14	10	0	2	2	1	0	1	2	3	3	2	2	2	4	1	3	2	4	2	1			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr22:19838698C>G	ENST00000405640.1	-	2	1755	c.1087G>C	c.(1087-1089)Ggg>Cgg	p.G363R	GNB1L_ENST00000403325.1_Intron|C22orf29_ENST00000484072.1_Intron|C22orf29_ENST00000407472.1_Missense_Mutation_p.G363R|GNB1L_ENST00000405009.1_Intron|GNB1L_ENST00000460402.1_Intron|GNB1L_ENST00000329517.6_Intron|C22orf29_ENST00000328554.4_Missense_Mutation_p.G363R			Q7L3V2	CV029_HUMAN	chromosome 22 open reading frame 29	363								p.G363R(1)		NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7	Colorectal(54;0.0993)					GTTCAGAACCCAGGAGAAAGT	0.607													2	8					0	0	1	0	0	G	19838698	C	G	19838698	3	3	18	1	0	0	0	0	1	0	0	0	2155	594	21	4	11	4	C22orf29	22	19838698	Missense_Mutation	SNP	C	TCGA-CH-5763-01A-11D-1576-08		19838698	31465868	29	1012											
AIFM3	150209	broad.mit.edu	37	chr22	21322168	21322168	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccagccccatggggggcGccctaggcctccgacagctc	5	5	14	17	2	0	0	0	0	0	0	3	1	2	0	6	5	2	1	6	5	1	1			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr22:21322168G>A	ENST00000335375.5	+	2	117	c.10G>A	c.(10-12)Gcc>Acc	p.A4T	AIFM3_ENST00000440238.2_5'UTR|AIFM3_ENST00000333607.6_5'UTR|AIFM3_ENST00000399167.2_5'UTR|AIFM3_ENST00000399163.2_5'UTR|AIFM3_ENST00000405089.1_5'UTR					apoptosis-inducing factor, mitochondrion-associated, 3											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CATGGGGGGCGCCCTAGGCCT	0.672													7	47					0	0	1	0	0	A	21322168	G	A	21322168	3	1	18	1	0	0	0	0	1	0	0	0	425	1102	38	1		1	AIFM3	22	21322168	Missense_Mutation	SNP	G	TCGA-CH-5763-01A-11D-1576-08	1483470	21322168	29982398	30	1013											
PKDREJ	10343	broad.mit.edu	37	chr22	46657040	46657040	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggagattgactctgtcatctCggagaggtaattcagttttc	9	14	11	7	1	4	3	2	1	2	2	6	5	4	3	0	3	0	2	0	3	1	5			TCGA-CH-5763-01A-11D-1576-08	TCGA-CH-5763-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	581be6cf-9778-49c3-9c77-1316eaa78929	b3c65fbf-e781-4a0c-b76d-8a6c4535ccef	g.chr22:46657040C>T	ENST00000253255.5	-	1	2179	c.2180G>A	c.(2179-2181)cGa>cAa	p.R727Q		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	727	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	p.R727Q(1)		NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TCTGTCATCTCGGAGAGGTAA	0.388													6	209					0	0	1	0	0	T	46657040	C	T	46657040	3	4	18	1	0	0	0	0	1	0	0	0	12018	884	31	1	4585	1	PKDREJ	22	46657040	Missense_Mutation	SNP	C	TCGA-CH-5763-01A-11D-1576-08	25334872	46657040	4647526	31	1014											
MIIP	60672	broad.mit.edu	37	chr1	12090150	12090150	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catccaccggcgaaagagctTtgacgcctctgacacactgg	10	7	10	14	3	1	3	0	2	1	1	2	4	2	3	3	2	1	1	3	2	1	1			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr1:12090150T>G	ENST00000235332.4	+	8	1080	c.911T>G	c.(910-912)tTt>tGt	p.F304C	MIIP_ENST00000466860.1_3'UTR|MIIP_ENST00000436478.2_Intron	NM_021933.3	NP_068752.2	Q5JXC2	MIIP_HUMAN	migration and invasion inhibitory protein	304								p.F304C(1)		autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						CGAAAGAGCTTTGACGCCTCT	0.697													14	38					0	0	0.132662	0	0	G	12090150	T	G	12090150	3	3	19	1	0	0	0	0	1	0	0	0	9633	1841	64	5	937	5	MIIP	1	12090150	Missense_Mutation	SNP	T	TCGA-CH-5764-01A-21D-1576-08		12090150	237160471	1	1015											
SPEN	23013	broad.mit.edu	37	chr1	16257158	16257158	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actcccgatttgcaaattttCgaaacaacaaagataaagaa	19	9	5	8	2	0	2	0	0	0	2	2	4	1	2	1	0	3	1	1	0	7	4			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr1:16257158C>T	ENST00000375759.3	+	11	4627	c.4423C>T	c.(4423-4425)Cga>Tga	p.R1475*		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1475					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	p.R1475*(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TGCAAATTTTCGAAACAACAA	0.378													12	172					0	0	0.080935	0	0	T	16257158	C	T	16257158	4	4	19	1	0	0	0	0	0	1	0	0	15094	876	31	1	4465	1	SPEN	1	16257158	Nonsense_Mutation	SNP	C	TCGA-CH-5764-01A-21D-1576-08	4167008	16257158	232993463	2	1016											
PADI6	353238	broad.mit.edu	37	chr1	17723476	17723477	+	RNA	INS	-	-	CA																															cactggcccaggaatgcaccINScaggtggctgggcctggccc																								rs67024576	by1000genomes	TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr1:17723476_17723477insCA	ENST00000434762.2	+	0	1669							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	AGGAATGCACCCAGGTGGCTGG	0.629													3	3	---	---	---	---						CA	17723477	-	CA	17723476	6	5	19	0	1	1	1	0	0	0	0	0	11428	638	22	0		0	PADI6	1	17723476	RNA	INS	-	TCGA-CH-5764-01A-21D-1576-08	1466318	17723476	231527145	3	1017											
EPS15	2060	broad.mit.edu	37	chr1	51826841	51826841	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acagctcattcacagtacttAcagcactgaagttggcaaaa	15	9	7	10	0	2	1	2	1	0	0	2	1	2	1	0	1	4	5	0	1	5	4			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr1:51826841A>G	ENST00000371733.3	-	24	2641		c.e24+1		EPS15_ENST00000371730.2_Splice_Site|EPS15_ENST00000396122.4_Splice_Site	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15						cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	p.0?(2)|p.?(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						CACAGTACTTACAGCACTGAA	0.358			T	MLL	ALL								40	128					0	0	0.092188	0	0	G	51826841	A	G	51826841	5	3	19	1	0	0	0	0	0	0	1	0	5220	405	14	3	152	3	EPS15	1	51826841	Splice_Site	SNP	A	TCGA-CH-5764-01A-21D-1576-08	34103365	51826841	197423780	4	1018											
PRPF38B	55119	broad.mit.edu	37	chr1	109241909	109241909	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagagagaaagaacgccagcGactagagcgtgaagccaaag	18	2	13	8	3	0	5	0	1	0	4	0	7	0	5	2	0	4	0	2	0	6	1			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr1:109241909G>A	ENST00000370021.1	+	7	1212	c.575G>A	c.(574-576)cGa>cAa	p.R192Q	PRPF38B_ENST00000370025.4_Missense_Mutation_p.R303Q			Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	303					mRNA processing|RNA splicing	spliceosomal complex		p.R303Q(1)		NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		GAACGCCAGCGACTAGAGCGT	0.512													12	77					0	0	0.080935	0	0	A	109241909	G	A	109241909	3	1	19	1	0	0	0	0	1	0	0	0	12620	1058	37	1	930	1	PRPF38B	1	109241909	Missense_Mutation	SNP	G	TCGA-CH-5764-01A-21D-1576-08	57415068	109241909	140008712	5	1019											
CNNM4	26504	broad.mit.edu	37	chr2	97464910	97464910	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaataagtactacgcccgcCattacctgtacacccgaaat	14	8	5	14	3	0	0	0	0	0	0	0	1	0	0	4	0	4	2	4	0	7	5			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr2:97464910C>A	ENST00000377075.2	+	4	1896	c.1798C>A	c.(1798-1800)Cat>Aat	p.H600N	CNNM4_ENST00000540067.1_Missense_Mutation_p.H87N|CNNM4_ENST00000496186.1_3'UTR	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin M4	600					biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane		p.H600N(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						CTACGCCCGCCATTACCTGTA	0.567													9	94					0.0477658	0.0509932	0.047766	1	0	A	97464910	C	A	97464910	3	1	19	1	0	0	0	0	1	0	0	0	3638	594	21	4	1812	4	CNNM4	2	97464910	Missense_Mutation	SNP	C	TCGA-CH-5764-01A-21D-1576-08		97464910	145734463	6	1020											
SCN3A	6328	broad.mit.edu	37	chr2	165970412	165970412	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtagcaggtttttcgaaGattccaccagatcttccctt	9	14	7	11	1	1	2	0	0	1	2	4	3	3	2	3	1	1	3	3	1	2	6			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr2:165970412G>T	ENST00000360093.3	-	20	4074	c.3583C>A	c.(3583-3585)Ctt>Att	p.L1195I	SCN3A_ENST00000409101.3_Missense_Mutation_p.L1146I|SCN3A_ENST00000283254.7_Missense_Mutation_p.L1195I	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1195						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.L1195I(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	GTTTTTCGAAGATTCCACCAG	0.343													7	289					0.00198382	0.00223888	0.02938	1	0	T	165970412	G	T	165970412	3	4	19	1	0	0	0	0	1	0	0	0	13972	942	33	4	2455	4	SCN3A	2	165970412	Missense_Mutation	SNP	G	TCGA-CH-5764-01A-21D-1576-08	68505502	165970412	77228961	7	1021											
PIKFYVE	200576	broad.mit.edu	37	chr2	209190767	209190767	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggatgagatgctctaccCgagattattttgcagagcag	11	10	13	7	1	1	3	0	1	1	3	1	6	1	4	1	2	4	3	1	2	2	4			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr2:209190767C>T	ENST00000264380.4	+	20	3390	c.3232C>T	c.(3232-3234)Cga>Tga	p.R1078*		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1078					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	p.R1078*(2)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						ATGCTCTACCCGAGATTATTT	0.423													5	189					0	0	0.021553	0	0	T	209190767	C	T	209190767	4	4	19	1	0	0	0	0	0	1	0	0	11972	644	23	1	3317	1	PIKFYVE	2	209190767	Nonsense_Mutation	SNP	C	TCGA-CH-5764-01A-21D-1576-08	43220355	209190767	34008606	8	1022											
GIGYF2	26058	broad.mit.edu	37	chr2	233620970	233620970	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaaatagtgctgctgtccTgcgattgacaggacgaggag	10	10	14	7	2	0	1	0	1	0	0	1	5	1	3	1	2	3	3	1	2	3	3			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr2:233620970T>C	ENST00000373566.3	+	6	502	c.305T>C	c.(304-306)cTg>cCg	p.L102P	GIGYF2_ENST00000409480.1_Missense_Mutation_p.L102P|GIGYF2_ENST00000409547.1_Missense_Mutation_p.L102P|GIGYF2_ENST00000409451.3_Missense_Mutation_p.L102P|GIGYF2_ENST00000409196.3_Missense_Mutation_p.L102P|GIGYF2_ENST00000373563.4_Missense_Mutation_p.L102P			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	102					cell death		protein binding	p.L102P(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GCTGCTGTCCTGCGATTGACA	0.393													3	78					0	0	0.115264	0	0	C	233620970	T	C	233620970	3	2	19	1	0	0	0	0	1	0	0	0	6420	1580	55	3	319	3	GIGYF2	2	233620970	Missense_Mutation	SNP	T	TCGA-CH-5764-01A-21D-1576-08	24430203	233620970	9578403	9	1023											
PRSS50	29122	broad.mit.edu	37	chr3	46755773	46755773	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccttcaacacatagtccGtgccaggcaggcagatgggc	9	7	13	12	1	1	1	1	0	0	1	3	1	3	1	3	4	2	2	3	4	2	2	rs139823108	by1000genomes	TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr3:46755773G>A	ENST00000460241.1	-	9	2359	c.689C>T	c.(688-690)aCg>aTg	p.T230M	PRSS50_ENST00000315170.7_Missense_Mutation_p.T230M			Q9UI38	TSP50_HUMAN	protease, serine, 50	230	Peptidase S1.				proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity	p.T230M(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						CACATAGTCCGTGCCAGGCAG	0.602													4	47					0	0	0.009096	0	0	A	46755773	G	A	46755773	3	1	19	1	0	0	0	0	1	0	0	0	12680	1145	40	1	480	1	PRSS50	3	46755773	Missense_Mutation	SNP	G	TCGA-CH-5764-01A-21D-1576-08		46755773	151266657	10	1024											
AGTR1	185	broad.mit.edu	37	chr3	148458896	148458896	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcccaaagctggaaggcataAttacatatttgtcatgattc	13	13	7	8	0	1	1	1	1	0	0	3	2	2	2	1	2	2	2	1	2	5	5			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr3:148458896A>C	ENST00000542281.1	+	4	520	c.74A>C	c.(73-75)aAt>aCt	p.N25T	AGTR1_ENST00000475347.1_Missense_Mutation_p.N25T|AGTR1_ENST00000404754.2_Missense_Mutation_p.N25T|AGTR1_ENST00000497524.1_Missense_Mutation_p.N25T|AGTR1_ENST00000402260.1_Missense_Mutation_p.N25T|AGTR1_ENST00000349243.3_Missense_Mutation_p.N25T|AGTR1_ENST00000461609.1_Missense_Mutation_p.N25T|AGTR1_ENST00000418473.2_Missense_Mutation_p.N25T|AGTR1_ENST00000474935.1_Missense_Mutation_p.N25T	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	25					calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity	p.N25T(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	GGAAGGCATAATTACATATTT	0.353													24	168					0	0	0.069288	0	0	C	148458896	A	C	148458896	3	2	19	1	0	0	0	0	1	0	0	0	398	101	4	5	76	5	AGTR1	3	148458896	Missense_Mutation	SNP	A	TCGA-CH-5764-01A-21D-1576-08	101703123	148458896	49563534	11	1025											
SLC33A1	9197	broad.mit.edu	37	chr3	155571051	155571051	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgggttgaggctgaaaccGcaaatatttgttacaaaagt	13	12	10	6	1	1	2	0	2	1	0	1	2	1	2	1	2	2	4	1	2	6	4			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr3:155571051G>A	ENST00000392845.2	-	1	1116	c.736C>T	c.(736-738)Cgg>Tgg	p.R246W	SLC33A1_ENST00000460729.1_5'UTR|SLC33A1_ENST00000359479.3_Missense_Mutation_p.R246W	NM_004733.3	NP_004724.1	O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1	246					cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity	p.R246W(1)		endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GGCTGAAACCGCAAATATTTG	0.408													4	98					0	0	0.009096	0	0	A	155571051	G	A	155571051	3	1	19	1	0	0	0	0	1	0	0	0	14621	1086	38	1	937	1	SLC33A1	3	155571051	Missense_Mutation	SNP	G	TCGA-CH-5764-01A-21D-1576-08	7112155	155571051	42451379	12	1026											
CCDC39	339829	broad.mit.edu	37	chr3	180381743	180381743	+	Frame_Shift_Del	DEL	A	A	-																															actcacgtaactcatcttgcAagcttgctctttcatccttc																										TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr3:180381743delA	ENST00000273654.4	-	8	993	c.374delT	c.(373-375)tgfs	p.L125fs	CCDC39_ENST00000442201.2_Frame_Shift_Del_p.L41fs			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	41					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			CTCATCTTGCAAGCTTGCTCT	0.338													35	141	---	---	---	---						-	180381743	A	-	180381743	7	5	19	1	0	1	0	1	0	0	0	0	2830	131	5	0	2779	0	CCDC39	3	180381743	Frame_Shift_Del	DEL	A	TCGA-CH-5764-01A-21D-1576-08	24810692	180381743	17640687	13	1027											
PARL	55486	broad.mit.edu	37	chr3	183547482	183547482	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttccaaatcagttcatgaccGtaagtaacataccatctgga	14	11	6	10	1	3	1	2	1	1	0	4	2	4	2	3	1	2	3	3	1	4	5			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr3:183547482G>A	ENST00000317096.4	-	10	1104	c.1044C>T	c.(1042-1044)taC>taT	p.Y348Y	PARL_ENST00000311101.5_Silent_p.Y298Y|PARL_ENST00000435888.1_Silent_p.Y264Y	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	presenilin associated, rhomboid-like	348					proteolysis	integral to membrane|mitochondrial inner membrane|nucleus	serine-type endopeptidase activity	p.Y348Y(1)		endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GTTCATGACCGTAAGTAACAT	0.423													5	350					0	0	0.014758	0	0	A	183547482	G	A	183547482	2	1	19	1	0	0	0	0	0	0	0	1	11498	1140	40	1		1	PARL	3	183547482	Silent	SNP	G	TCGA-CH-5764-01A-21D-1576-08	3165739	183547482	14474948	14	1028											
FRAS1	80144	broad.mit.edu	37	chr4	79458218	79458218	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgcttacaaactccagcTggagaaagtctatctttgta	11	14	7	9	0	3	1	0	0	3	1	4	2	4	1	1	1	4	3	1	1	5	5			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr4:79458218T>A	ENST00000264895.6	+	72	11602	c.11162T>A	c.(11161-11163)cTg>cAg	p.L3721Q		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3716					cell communication	integral to membrane|plasma membrane	metal ion binding	p.L3721Q(2)|p.L3722Q(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AAACTCCAGCTGGAGAAAGTC	0.418													32	238					0	0	0.059317	0	0	A	79458218	T	A	79458218	3	1	19	1	0	0	0	0	1	0	0	0	6076	1580	55	5	11523	5	FRAS1	4	79458218	Missense_Mutation	SNP	T	TCGA-CH-5764-01A-21D-1576-08		79458218	111696058	15	1029											
INTS12	57117	broad.mit.edu	37	chr4	106607868	106607868	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccttgacttctgttctcttaAacgctagaaaagttgtctct	9	16	6	10	1	3	2	0	1	3	1	5	2	3	2	1	0	1	3	1	0	5	6			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr4:106607868A>G	ENST00000451321.2	-	6	1264	c.785T>C	c.(784-786)tTt>tCt	p.F262S	INTS12_ENST00000394735.1_Missense_Mutation_p.F262S|INTS12_ENST00000340139.5_Missense_Mutation_p.F262S	NM_001142471.1	NP_001135943.1	Q96CB8	INT12_HUMAN	integrator complex subunit 12	262					snRNA processing	integrator complex	protein binding|zinc ion binding	p.F262S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		TGTTCTCTTAAACGCTAGAAA	0.313													3	132					0	0	0.115264	0	0	G	106607868	A	G	106607868	3	3	19	1	0	0	0	0	1	0	0	0	7821	14	1	3	611	3	INTS12	4	106607868	Missense_Mutation	SNP	A	TCGA-CH-5764-01A-21D-1576-08	27149650	106607868	84546408	16	1030											
ADAMTS16	170690	broad.mit.edu	37	chr5	5303543	5303543	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggcaggcctgcaactctcaGagctgcccacctgcatggag	9	6	12	14	0	1	1	1	0	1	1	2	2	1	2	3	3	5	4	3	3	1	0	rs35200003		TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr5:5303543G>A	ENST00000274181.7	+	19	3090	c.2952G>A	c.(2950-2952)caG>caA	p.Q984Q		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	984	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.Q984Q(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GCAACTCTCAGAGCTGCCCAC	0.677													4	15					0	0	0.009096	0	0	A	5303543	G	A	5303543	2	1	19	1	0	0	0	0	0	0	0	1	260	933	33	2		2	ADAMTS16	5	5303543	Silent	SNP	G	TCGA-CH-5764-01A-21D-1576-08		5303543	175611717	17	1031											
BRD8	10902	broad.mit.edu	37	chr5	137485406	137485406	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaaaggcatcatcacactcGcctgaagggggctggtcttc	9	10	11	11	1	3	1	2	1	1	0	5	1	3	1	1	4	0	2	1	4	3	2			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr5:137485406G>A	ENST00000254900.5	-	23	3572	c.3201C>T	c.(3199-3201)ggC>ggT	p.G1067G		NM_139199.1	NP_631938.1	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	1067					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity	p.G1067G(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CATCACACTCGCCTGAAGGGG	0.502													15	154					0	0	0.11911	0	0	A	137485406	G	A	137485406	2	1	19	1	0	0	0	0	0	0	0	1	1508	1074	38	1		1	BRD8	5	137485406	Silent	SNP	G	TCGA-CH-5764-01A-21D-1576-08	132181863	137485406	43429854	18	1032											
BMP6	654	broad.mit.edu	37	chr6	7845502	7845502	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctacaaggactgtgttatggGgagttttaaaaaccaaactt	14	12	9	6	0	0	0	0	0	0	0	0	2	0	2	1	3	3	2	1	3	7	5			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr6:7845502G>A	ENST00000283147.6	+	2	953	c.794G>A	c.(793-795)gGg>gAg	p.G265E		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	265					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity	p.G265E(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					TGTGTTATGGGGAGTTTTAAA	0.473													13	164					0	0	0.09319	0	0	A	7845502	G	A	7845502	3	1	19	1	0	0	0	0	1	0	0	0	1463	1232	43	2	800	2	BMP6	6	7845502	Missense_Mutation	SNP	G	TCGA-CH-5764-01A-21D-1576-08		7845502	163269565	19	1033											
TFAP2D	83741	broad.mit.edu	37	chr6	50740431	50740431	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccaaacagttctcagtgaaAtgctgaactacttggaaaaa	16	10	7	8	0	1	2	1	2	1	0	3	3	2	3	1	1	4	2	1	1	6	3			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr6:50740431A>G	ENST00000008391.3	+	8	1441	c.1213A>G	c.(1213-1215)Atg>Gtg	p.M405V		NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	405	H-S-H (helix-span-helix), dimerization.						DNA binding|sequence-specific DNA binding transcription factor activity	p.M405V(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					TCTCAGTGAAATGCTGAACTA	0.478													33	94					0	0	0.050027	0	0	G	50740431	A	G	50740431	3	3	19	1	0	0	0	0	1	0	0	0	15850	101	4	3	1243	3	TFAP2D	6	50740431	Missense_Mutation	SNP	A	TCGA-CH-5764-01A-21D-1576-08	42894929	50740431	120374636	20	1034											
FAM83B	222584	broad.mit.edu	37	chr6	54735045	54735045	+	Translation_Start_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagccaaacacttgcaagcAtggagacctcatcaatgctt	14	9	7	11	0	2	1	2	0	0	1	2	2	2	1	2	1	5	3	2	1	4	3			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr6:54735045A>T	ENST00000306858.7	+	2	117	c.1A>T	c.(1-3)Atg>Ttg	p.M1L		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	1								p.M1L(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					ACTTGCAAGCATGGAGACCTC	0.378													19	175					0	0	0.043863	0	0	T	54735045	A	T	54735045	1	4	19	1	0	0	0	0	0	0	0	0	5666	217	8	5		5	FAM83B	6	54735045	Translation_Start_Site	SNP	A	TCGA-CH-5764-01A-21D-1576-08	3994614	54735045	116380022	21	1035											
LGSN	51557	broad.mit.edu	37	chr6	63990299	63990299	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atatacagctgttgtcattgTatccccatgttgtaggcaca	10	14	8	9	0	1	0	1	0	0	0	2	0	2	0	2	1	2	6	2	1	4	7			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr6:63990299T>C	ENST00000370657.4	-	4	1190	c.1157A>G	c.(1156-1158)tAc>tGc	p.Y386C	LGSN_ENST00000370658.5_3'UTR			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	386					glutamine biosynthetic process		glutamate-ammonia ligase activity	p.Y386C(2)		NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	GTTGTCATTGTATCCCCATGT	0.468													132	299					0	0	0.139131	0	0	C	63990299	T	C	63990299	3	2	19	1	0	0	0	0	1	0	0	0	8799	1638	57	3	376	3	LGSN	6	63990299	Missense_Mutation	SNP	T	TCGA-CH-5764-01A-21D-1576-08	9255254	63990299	107124768	22	1036											
MAN1A1	4121	broad.mit.edu	37	chr6	119509656	119509656	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtctccataacttctggccGtaagatgtagtatttttcat	10	16	7	8	1	3	1	1	0	2	1	4	1	3	1	2	1	1	3	2	1	4	7			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr6:119509656G>A	ENST00000368468.3	-	11	2074	c.1633C>T	c.(1633-1635)Cgg>Tgg	p.R545W		NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	545					post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	p.R545W(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		ACTTCTGGCCGTAAGATGTAG	0.413													6	342					0	0	0.021553	0	0	A	119509656	G	A	119509656	3	1	19	1	0	0	0	0	1	0	0	0	9260	1144	40	1	340	1	MAN1A1	6	119509656	Missense_Mutation	SNP	G	TCGA-CH-5764-01A-21D-1576-08	55519357	119509656	51605411	23	1037											
PRPS1L1	221823	broad.mit.edu	37	chr7	18067240	18067240	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcgccacaaccactctgaaCgatgtagacatcctctccac	11	9	5	16	2	2	2	0	1	2	1	5	3	3	2	4	0	2	1	4	0	3	2			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr7:18067240C>T	ENST00000506618.2	-	1	246	c.166G>A	c.(166-168)Gtt>Att	p.V56I		NM_175886.2	NP_787082.1	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	56					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	p.V56I(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					CCACTCTGAACGATGTAGACA	0.488													9	533					0	0	0.058154	0	0	T	18067240	C	T	18067240	3	4	19	1	0	0	0	0	1	0	0	0	12631	536	19	1	794	1	PRPS1L1	7	18067240	Missense_Mutation	SNP	C	TCGA-CH-5764-01A-21D-1576-08		18067240	141071423	24	1038											
GRM3	0	broad.mit.edu	37	chr7	86415634	86415634	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagctacgcatccaccagcGccaaactcagtgataagtcg	12	7	8	14	3	2	1	2	1	0	0	4	1	3	1	3	0	4	2	3	0	3	2			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr7:86415634G>A	ENST00000361669.2	+	3	1625	c.526G>A	c.(526-528)Gcc>Acc	p.A176T	AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.A48T|GRM3_ENST00000439827.1_Missense_Mutation_p.A176T|GRM3_ENST00000394720.2_Missense_Mutation_p.A174T|AC005009.2_ENST00000418031.1_RNA	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	176					synaptic transmission	integral to plasma membrane		p.A176T(2)		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)	ATCCACCAGCGCCAAACTCAG	0.552													6	353					0	0	0.021553	0	0	A	86415634	G	A	86415634	3	1	19	1	0	0	0	0	1	0	0	0	6839	1087	38	1	532	1	GRM3	7	86415634	Missense_Mutation	SNP	G	TCGA-CH-5764-01A-21D-1576-08	68348394	86415634	72723029	25	1039											
AKAP9	10142	broad.mit.edu	37	chr7	91631337	91631337	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attttggaaatttcaaagctAaaagatttacagcagtctct	15	14	6	6	0	2	1	1	0	1	1	3	2	2	2	0	1	3	2	0	1	5	6			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr7:91631337A>G	ENST00000359028.2	+	9	2367	c.2142A>G	c.(2140-2142)ctA>ctG	p.L714L	AKAP9_ENST00000358100.2_Silent_p.L714L|AKAP9_ENST00000356239.3_Silent_p.L702L			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	714	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	p.L714L(1)|p.L702L(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TTTCAAAGCTAAAAGATTTAC	0.289			T	BRAF	papillary thyroid								3	101					0	0	0.115264	0	0	G	91631337	A	G	91631337	2	3	19	1	0	0	0	0	0	0	0	1	456	349	13	3		3	AKAP9	7	91631337	Silent	SNP	A	TCGA-CH-5764-01A-21D-1576-08	5215703	91631337	67507326	26	1040											
STAG3	10734	broad.mit.edu	37	chr7	99795408	99795408	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcctcaccagcaccgagAagtccgcctgaagtgtgtga	9	7	10	15	2	1	3	1	2	0	1	3	4	3	3	6	0	1	1	6	0	2	0			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr7:99795408A>T	ENST00000426455.1	+	11	1480	c.1073A>T	c.(1072-1074)gAa>gTa	p.E358V	STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000317296.5_Missense_Mutation_p.E358V|STAG3_ENST00000394018.2_Missense_Mutation_p.E300V			Q9UJ98	STAG3_HUMAN	stromal antigen 3	358	SCD.				chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding	p.E358V(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAGCACCGAGAAGTCCGCCTG	0.562													8	146					0	0	0.047766	0	0	T	99795408	A	T	99795408	3	4	19	1	0	0	0	0	1	0	0	0	15300	246	9	5	1111	5	STAG3	7	99795408	Missense_Mutation	SNP	A	TCGA-CH-5764-01A-21D-1576-08	8164071	99795408	59343255	27	1041											
LAMB4	22798	broad.mit.edu	37	chr7	107674715	107674715	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgtgtaatggtagagtttgCccgtccttgagtgatttgag	7	15	13	6	1	0	4	0	3	0	1	1	4	1	4	2	1	1	3	2	1	2	5			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr7:107674715C>T	ENST00000388781.3	-	31	4839	c.4756G>A	c.(4756-4758)Gca>Aca	p.A1586T	LAMB4_ENST00000388780.3_Missense_Mutation_p.A1586T|LAMB4_ENST00000205386.4_Missense_Mutation_p.A1586T|LAMB4_ENST00000483484.1_5'UTR	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1586	Domain I.				cell adhesion	basement membrane		p.A1586T(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GTAGAGTTTGCCCGTCCTTGA	0.333													6	295					0	0	0.021553	0	0	T	107674715	C	T	107674715	3	4	19	1	0	0	0	0	1	0	0	0	8652	739	26	2	545	2	LAMB4	7	107674715	Missense_Mutation	SNP	C	TCGA-CH-5764-01A-21D-1576-08	7879307	107674715	51463948	28	1042											
MGAM	8972	broad.mit.edu	37	chr7	141727465	141727465	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcttggatttcacctcagtcGttacgaatatggaaccttag	10	13	9	9	2	2	0	2	0	0	0	3	3	2	2	2	2	2	2	2	2	5	5			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr7:141727465G>A	ENST00000475668.2	+	10	1205	c.1151G>A	c.(1150-1152)cGt>cAt	p.R384H	MGAM_ENST00000549489.2_Missense_Mutation_p.R384H			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	384	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.R384H(4)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CACCTCAGTCGTTACGAATAT	0.453													8	81					0	0	0.047766	0	0	A	141727465	G	A	141727465	3	1	19	1	0	0	0	0	1	0	0	0	9591	1145	40	1	1185	1	MGAM	7	141727465	Missense_Mutation	SNP	G	TCGA-CH-5764-01A-21D-1576-08	34052750	141727465	17411198	29	1043											
CDH17	1015	broad.mit.edu	37	chr8	95140541	95140541	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcctttatccttctttatgCggataaacacaactgctaaa	12	14	5	10	1	1	0	0	0	1	0	2	1	2	1	2	1	5	1	2	1	7	7			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr8:95140541C>T	ENST00000027335.3	-	18	2550	c.2426G>A	c.(2425-2427)cGc>cAc	p.R809H	CDH17_ENST00000450165.2_Missense_Mutation_p.R809H|CDH17_ENST00000441892.2_Missense_Mutation_p.R557H	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	809						integral to membrane	calcium ion binding	p.R809H(1)		NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CTTCTTTATGCGGATAAACAC	0.323													33	84					0	0	0.045705	0	0	T	95140541	C	T	95140541	3	4	19	1	0	0	0	0	1	0	0	0	3124	768	27	1	76	1	CDH17	8	95140541	Missense_Mutation	SNP	C	TCGA-CH-5764-01A-21D-1576-08		95140541	51223481	30	1044											
LINGO2	158038	broad.mit.edu	37	chr9	27949564	27949564	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caaactgcagggtgggctgtCgctgcaagatccagagaagg	11	6	15	9	1	0	2	0	0	0	2	2	3	1	2	1	3	3	4	1	3	3	0			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr9:27949564C>T	ENST00000379992.2	-	6	1555	c.1106G>A	c.(1105-1107)cGa>cAa	p.R369Q	LINGO2_ENST00000308675.3_Missense_Mutation_p.R369Q	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	369	LRRCT.					integral to membrane		p.R369Q(4)		autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GGTGGGCTGTCGCTGCAAGAT	0.547													14	61					0	0	0.132662	0	0	T	27949564	C	T	27949564	3	4	19	1	0	0	0	0	1	0	0	0	8856	884	31	1	718	1	LINGO2	9	27949564	Missense_Mutation	SNP	C	TCGA-CH-5764-01A-21D-1576-08		27949564	113263867	31	1045											
TBC1D2	55357	broad.mit.edu	37	chr9	100995790	100995790	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctggaggttcatggcctgttCcctgggcctgcttgttgcca	3	13	13	12	0	1	0	1	0	0	0	2	1	2	1	4	4	2	4	4	4	0	4			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr9:100995790C>T	ENST00000375066.5	-	4	780	c.689G>A	c.(688-690)gGa>gAa	p.G230E	TBC1D2_ENST00000375064.1_Missense_Mutation_p.G230E|TBC1D2_ENST00000342112.5_Missense_Mutation_p.G12E	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	230						cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity	p.G230E(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		ATGGCCTGTTCCCTGGGCCTG	0.587													24	245					0	0	0.108266	0	0	T	100995790	C	T	100995790	3	4	19	1	0	0	0	0	1	0	0	0	15665	855	30	2	2104	2	TBC1D2	9	100995790	Missense_Mutation	SNP	C	TCGA-CH-5764-01A-21D-1576-08	73046226	100995790	40217641	32	1046											
TNC	3371	broad.mit.edu	37	chr9	117852969	117852969	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggctgcggcacagccacagGcccggcgggggatgttgatg	6	5	19	11	3	0	1	0	1	0	0	0	2	0	2	2	6	2	3	2	6	0	1			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr9:117852969G>T	ENST00000350763.4	-	2	740	c.329C>A	c.(328-330)gCc>gAc	p.A110D	TNC_ENST00000345230.3_Missense_Mutation_p.A110D|TNC_ENST00000340094.3_Missense_Mutation_p.A110D|TNC_ENST00000346706.3_Missense_Mutation_p.A110D|TNC_ENST00000537320.1_Missense_Mutation_p.A110D|TNC_ENST00000341037.4_Missense_Mutation_p.A110D|TNC_ENST00000535648.1_Missense_Mutation_p.A110D|TNC_ENST00000542877.1_Missense_Mutation_p.A110D|TNC_ENST00000423613.2_Missense_Mutation_p.A110D	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	110					cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	p.A110D(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						ACAGCCACAGGCCCGGCGGGG	0.587													64	531					9.42754e-34	1.18218e-33	0.139131	1	0	T	117852969	G	T	117852969	3	4	19	1	0	0	0	0	1	0	0	0	16330	1203	42	4	6384	4	TNC	9	117852969	Missense_Mutation	SNP	G	TCGA-CH-5764-01A-21D-1576-08	16857179	117852969	23360462	33	1047											
NUCB2	4925	broad.mit.edu	37	chr11	17332484	17332484	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaaacattgaatgaagaaaAgagaaaagaagaagagtcta	25	5	9	2	0	1	7	0	2	1	5	1	8	1	7	0	0	1	0	0	0	11	2			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr11:17332484A>C	ENST00000529010.1	+	7	815	c.596A>C	c.(595-597)aAg>aCg	p.K199T	NUCB2_ENST00000458064.2_Missense_Mutation_p.K199T|NUCB2_ENST00000323688.6_Missense_Mutation_p.K199T	NM_005013.2	NP_005004.1	P80303	NUCB2_HUMAN	nucleobindin 2	199						cytosol|ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|plasma membrane	calcium ion binding|DNA binding	p.K199T(1)		kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						AATGAAGAAAAGAGAAAAGAA	0.303													6	299					0	0	0.021553	0	0	C	17332484	A	C	17332484	3	2	19	1	0	0	0	0	1	0	0	0	10767	72	3	5	614	5	NUCB2	11	17332484	Missense_Mutation	SNP	A	TCGA-CH-5764-01A-21D-1576-08		17332484	117674032	34	1048											
OR5T1	390155	broad.mit.edu	37	chr11	56043514	56043514	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctgcaatggcttatgatCgctatgtagccatctacaac	10	12	9	10	1	1	1	0	1	1	0	2	1	1	1	1	2	4	5	1	2	6	4			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr11:56043514C>A	ENST00000313033.2	+	1	486	c.400C>A	c.(400-402)Cgc>Agc	p.R134S		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R134S(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					GGCTTATGATCGCTATGTAGC	0.413													46	444					2.47872e-24	3.05968e-24	0.117977	1	0	A	56043514	C	A	56043514	3	1	19	1	0	0	0	0	1	0	0	0	11228	884	31	4	402	4	OR5T1	11	56043514	Missense_Mutation	SNP	C	TCGA-CH-5764-01A-21D-1576-08	38711030	56043514	78963002	35	1049											
PPP1R1A	5502	broad.mit.edu	37	chr12	54971306	54971306	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcagggaaatcctcccaCgctcttctgtcccccagtcc	7	8	9	17	1	2	0	0	0	2	0	6	2	6	2	5	2	1	2	5	2	1	1			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr12:54971306C>T	ENST00000547431.1	-	6	355	c.328G>A	c.(328-330)Gtg>Atg	p.V110M	PDE1B_ENST00000538346.1_Intron|PDE1B_ENST00000550620.1_Intron|PDE1B_ENST00000243052.3_Intron|PDE1B_ENST00000394277.3_Intron			Q13522	PPR1A_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1A	0					glycogen metabolic process|signal transduction		protein binding|protein serine/threonine phosphatase inhibitor activity			lung(2)	2						AATCCTCCCACGCTCTTCTGT	0.547													6	151					0	0	0.02938	0	0	T	54971306	C	T	54971306	3	4	19	1	0	0	0	0	1	0	0	0	12416	551	19	1		1	PPP1R1A	12	54971306	Missense_Mutation	SNP	C	TCGA-CH-5764-01A-21D-1576-08		54971306	78880589	36	1050											
TMEM5	10329	broad.mit.edu	37	chr12	64173824	64173824	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacgctgcctaccacgtcttCttcgggcgccgccgccaggc	4	8	11	18	6	2	0	0	0	2	0	3	0	2	0	5	2	3	1	5	2	2	4			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr12:64173824C>T	ENST00000261234.6	+	1	242	c.84C>T	c.(82-84)ttC>ttT	p.F28F	RP11-415I12.3_ENST00000509615.2_RNA	NM_014254.1	NP_055069.1	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	28						integral to plasma membrane		p.F28F(1)		breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		ACCACGTCTTCTTcgggcgcc	0.716													3	29					0	0	0.009096	0	0	T	64173824	C	T	64173824	2	4	19	1	0	0	0	0	0	0	0	1	16234	912	32	2		2	TMEM5	12	64173824	Silent	SNP	C	TCGA-CH-5764-01A-21D-1576-08	9202518	64173824	69678071	37	1051											
TBC1D15	64786	broad.mit.edu	37	chr12	72288542	72288542	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctacatttttgacagtttgaGaggcagcgatccctctacac	10	12	8	11	1	1	2	0	2	1	1	2	4	2	2	1	1	3	2	1	1	2	5			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr12:72288542G>A	ENST00000550746.1	+	8	849	c.785G>A	c.(784-786)aGa>aAa	p.R262K	TBC1D15_ENST00000393309.3_Missense_Mutation_p.R16K|TBC1D15_ENST00000485960.2_Missense_Mutation_p.R245K|TBC1D15_ENST00000319106.8_Missense_Mutation_p.R253K	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	262							protein binding|Rab GTPase activator activity	p.R262K(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GACAGTTTGAGAGGCAGCGAT	0.368													5	200					0	0	0.014758	0	0	A	72288542	G	A	72288542	3	1	19	1	0	0	0	0	1	0	0	0	15661	942	33	2	939	2	TBC1D15	12	72288542	Missense_Mutation	SNP	G	TCGA-CH-5764-01A-21D-1576-08	8114718	72288542	61563353	38	1052											
CEP290	80184	broad.mit.edu	37	chr12	88487642	88487642	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttttgacaatgttcagcccGctgcctttcatttaattcct	7	18	5	11	1	2	1	2	1	0	0	3	1	3	1	3	0	2	2	3	0	2	7			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr12:88487642G>A	ENST00000552810.1	-	28	3557	c.3214C>T	c.(3214-3216)Cgg>Tgg	p.R1072W	CEP290_ENST00000547691.2_Missense_Mutation_p.R132W|CEP290_ENST00000397838.3_Missense_Mutation_p.R132W|CEP290_ENST00000309041.7_Missense_Mutation_p.R1074W	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1072					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding	p.R1074W(1)|p.R1072W(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TGTTCAGCCCGCTGCCTTTCA	0.348													3	78					0	0	0.115264	0	0	A	88487642	G	A	88487642	3	1	19	1	0	0	0	0	1	0	0	0	3275	1086	38	1	4333	1	CEP290	12	88487642	Missense_Mutation	SNP	G	TCGA-CH-5764-01A-21D-1576-08	16199100	88487642	45364253	39	1053											
BRCA2	675	broad.mit.edu	37	chr13	32912796	32912796	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcagactgcaagtgggaaaaAtattagtgtcgccaaagagt	15	9	11	6	1	1	2	1	0	0	2	2	3	1	3	1	1	1	1	1	1	6	2			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr13:32912796A>C	ENST00000544455.1	+	11	4531	c.4304A>C	c.(4303-4305)aAt>aCt	p.N1435T	BRCA2_ENST00000380152.3_Missense_Mutation_p.N1435T	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1435					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	p.N1435T(3)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AGTGGGAAAAATATTAGTGTC	0.284			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			26	237					0	0	0.0918	0	0	C	32912796	A	C	32912796	3	2	19	1	0	0	0	0	1	0	0	0	1501	101	4	5	4342	5	BRCA2	13	32912796	Missense_Mutation	SNP	A	TCGA-CH-5764-01A-21D-1576-08		32912796	82257082	40	1054											
MYH6	4624	broad.mit.edu	37	chr14	23866411	23866411	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctcattggggatgatgcaaCgcacaaagtgaggatgggtg	11	8	16	6	1	1	2	1	2	0	0	1	4	1	4	0	4	2	3	0	4	2	1			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr14:23866411C>T	ENST00000405093.3	-	17	2088	c.2018G>A	c.(2017-2019)cGt>cAt	p.R673H	MYH6_ENST00000356287.3_Missense_Mutation_p.R673H	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	673	Actin-binding.|Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	p.R673H(1)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GATGATGCAACGCACAAAGTG	0.542													7	305					0	0	0.038147	0	0	T	23866411	C	T	23866411	3	4	19	1	0	0	0	0	1	0	0	0	10086	536	19	1	3893	1	MYH6	14	23866411	Missense_Mutation	SNP	C	TCGA-CH-5764-01A-21D-1576-08		23866411	83483129	41	1055											
CLEC14A	161198	broad.mit.edu	37	chr14	38724734	38724734	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcacaggtagccgttggcgCgcaggtggcatcgcatctcc	6	8	14	13	4	1	0	0	0	1	0	3	0	1	0	2	4	2	6	2	4	1	2			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr14:38724734C>A	ENST00000342213.2	-	1	840	c.494G>T	c.(493-495)cGc>cTc	p.R165L		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	165	C-type lectin.					integral to membrane	sugar binding	p.R165L(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		GCCGTTGGCGCGCAGGTGGCA	0.682													16	52					5.35047e-06	6.50288e-06	0.083992	1	0	A	38724734	C	A	38724734	3	1	19	1	0	0	0	0	1	0	0	0	3522	768	27	4	982	4	CLEC14A	14	38724734	Missense_Mutation	SNP	C	TCGA-CH-5764-01A-21D-1576-08	14858323	38724734	68624806	42	1056											
ARG2	384	broad.mit.edu	37	chr14	68113409	68113409	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaaaccttgtatctcttctGcaagtattgtgtatattggt	9	18	7	7	0	3	0	1	0	2	0	4	0	3	0	1	1	2	4	1	1	6	8			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr14:68113409G>C	ENST00000261783.3	+	5	751	c.571G>C	c.(571-573)Gca>Cca	p.A191P	ARG2_ENST00000556491.1_3'UTR	NM_001172.3	NP_001163.1	P78540	ARGI2_HUMAN	arginase 2	191					arginine metabolic process|nitric oxide biosynthetic process|urea cycle	mitochondrial matrix	arginase activity|metal ion binding	p.A191P(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|ovary(1)|prostate(1)	11				all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928)	L-Arginine(DB00125)|L-Ornithine(DB00129)	TATCTCTTCTGCAAGTATTGT	0.423													7	239					0	0	0.038147	0	0	C	68113409	G	C	68113409	3	2	19	1	0	0	0	0	1	0	0	0	855	1319	46	4	589	4	ARG2	14	68113409	Missense_Mutation	SNP	G	TCGA-CH-5764-01A-21D-1576-08	29388675	68113409	39236131	43	1057											
SETD1A	9739	broad.mit.edu	37	chr16	30991347	30991347	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccgccgccaccgccccgcGcctacgagccacgcagtgag	6	2	11	22	7	0	1	0	1	0	0	0	2	0	1	9	0	2	1	9	0	1	1			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr16:30991347G>A	ENST00000262519.8	+	14	4926	c.4240G>A	c.(4240-4242)Gcc>Acc	p.A1414T		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1414	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	p.A1414T(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						accgccccgcgccTACGAGCC	0.687													7	14					0	0	0.02938	0	0	A	30991347	G	A	30991347	3	1	19	1	0	0	0	0	1	0	0	0	14184	1087	38	1	4290	1	SETD1A	16	30991347	Missense_Mutation	SNP	G	TCGA-CH-5764-01A-21D-1576-08		30991347	59363406	44	1058											
ZNF423	23090	broad.mit.edu	37	chr16	49669876	49669876	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcacagggcgcacttgtagaGcttctgcagcccctggccat	7	8	12	14	1	1	1	0	0	1	1	1	1	1	1	3	2	3	5	3	2	1	3			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr16:49669876G>A	ENST00000561648.1	-	4	3240	c.3187C>T	c.(3187-3189)Ctc>Ttc	p.L1063F	ZNF423_ENST00000567169.1_Missense_Mutation_p.L946F|ZNF423_ENST00000262383.2_Missense_Mutation_p.L1063F|ZNF423_ENST00000562871.1_Missense_Mutation_p.L1003F|ZNF423_ENST00000563137.2_Missense_Mutation_p.L1003F|ZNF423_ENST00000562520.1_Missense_Mutation_p.L1003F|ZNF423_ENST00000535559.1_Missense_Mutation_p.L946F	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1063					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.L1063F(3)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CACTTGTAGAGCTTCTGCAGC	0.627													3	28					0	0	0.009096	0	0	A	49669876	G	A	49669876	3	1	19	1	0	0	0	0	1	0	0	0	17955	971	34	2	687	2	ZNF423	16	49669876	Missense_Mutation	SNP	G	TCGA-CH-5764-01A-21D-1576-08	18678529	49669876	40684877	45	1059											
CD226	10666	broad.mit.edu	37	chr18	67614065	67614065	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catcatcttcagaggcattcCgaaagaaaagagtcatgtta	15	10	8	8	1	4	3	3	0	1	3	5	4	5	3	1	1	0	2	1	1	4	3			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr18:67614065C>G	ENST00000280200.4	-	3	555	c.287G>C	c.(286-288)cGg>cCg	p.R96P	CD226_ENST00000577287.1_Intron|CD226_ENST00000581982.1_Intron|CD226_ENST00000582621.1_Missense_Mutation_p.R96P	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	96	Ig-like C2-type 1.				cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity	p.R96P(1)|p.R96L(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				AGAGGCATTCCGAAAGAAAAG	0.448													52	108					0	0	0.139131	0	0	G	67614065	C	G	67614065	3	3	19	1	0	0	0	0	1	0	0	0	3008	652	23	4	743	4	CD226	18	67614065	Missense_Mutation	SNP	C	TCGA-CH-5764-01A-21D-1576-08		67614065	10463183	46	1060											
DOT1L	84444	broad.mit.edu	37	chr19	2210728	2210728	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggaggaagatggctggcCgcaagcgcgggcgccccaag	9	2	19	11	4	0	1	0	0	0	1	0	3	0	3	3	6	1	2	3	6	3	0			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr19:2210728C>T	ENST00000398665.3	+	14	1261	c.1225C>T	c.(1225-1227)Cgc>Tgc	p.R409C		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	409	Required for interaction with nucleosomes and DNA.					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	p.R409C(1)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GATGGCTGGCCGCAAGCGCGG	0.602													9	129					0	0	0.069234	0	0	T	2210728	C	T	2210728	3	4	19	1	0	0	0	0	1	0	0	0	4736	652	23	1	1279	1	DOT1L	19	2210728	Missense_Mutation	SNP	C	TCGA-CH-5764-01A-21D-1576-08		2210728	56918255	47	1061											
PNMAL1	55228	broad.mit.edu	37	chr19	46973938	46973938	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccacatcctcccaggtgcGcccctcggcatccaggaatt	8	7	9	17	2	0	0	0	0	0	0	4	2	3	1	6	3	1	1	6	3	1	1			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr19:46973938G>A	ENST00000313683.10	-	2	660	c.355C>T	c.(355-357)Cgc>Tgc	p.R119C	PNMAL1_ENST00000602246.1_Intron|PNMAL1_ENST00000438932.2_Missense_Mutation_p.R119C	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1	119								p.R119C(2)		cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		tcccaggtgcgcccctcggca	0.582													19	135					0	0	0.055883	0	0	A	46973938	G	A	46973938	3	1	19	1	0	0	0	0	1	0	0	0	12205	1087	38	1	994	1	PNMAL1	19	46973938	Missense_Mutation	SNP	G	TCGA-CH-5764-01A-21D-1576-08	44763210	46973938	12155045	48	1062											
ZSCAN5B	342933	broad.mit.edu	37	chr19	56701513	56701513	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtctgagggctgcaagaagcGcttccgacagagatcacatt	11	8	12	10	2	2	3	1	1	1	2	3	5	3	3	1	1	2	3	1	1	2	2			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr19:56701513G>A	ENST00000586855.2	-	5	1484	c.1171C>T	c.(1171-1173)Cgc>Tgc	p.R391C	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.R391C			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	391					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R391C(2)		breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TGCAAGAAGCGCTTCCGACAG	0.527													8	98					0	0	0.038147	0	0	A	56701513	G	A	56701513	3	1	19	1	0	0	0	0	1	0	0	0	18279	1087	38	1	320	1	ZSCAN5B	19	56701513	Missense_Mutation	SNP	G	TCGA-CH-5764-01A-21D-1576-08	9727575	56701513	2427470	49	1063											
SIGLEC1	6614	broad.mit.edu	37	chr20	3678583	3678583	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctttggtgaccttcatgcGtggggaacagcccccacagg	7	8	14	12	1	1	1	1	1	0	0	1	2	1	2	3	5	3	1	3	5	1	2			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr20:3678583G>A	ENST00000344754.4	-	8	1983	c.1984C>T	c.(1984-1986)Cgc>Tgc	p.R662C	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.R662C	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	662	Ig-like C2-type 6.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	p.R662C(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						ACCTTCATGCGTGGGGAACAG	0.627													9	97					0	0	0.069234	0	0	A	3678583	G	A	3678583	3	1	19	1	0	0	0	0	1	0	0	0	14360	1145	40	1	3201	1	SIGLEC1	20	3678583	Missense_Mutation	SNP	G	TCGA-CH-5764-01A-21D-1576-08		3678583	59346937	50	1064											
CDC45	8318	broad.mit.edu	37	chr22	19467485	19467485	+	Translation_Start_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgccaggcgtccggccgcCgtggctatgttcgtgtccga	4	8	15	14	7	0	0	0	0	0	0	3	1	2	0	5	3	1	2	5	3	1	2			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr22:19467485C>A	ENST00000407835.1	+	0	250				CDC45_ENST00000404724.3_De_novo_Start_InFrame|CDC45_ENST00000483431.1_3'UTR|CDC45_ENST00000437685.2_De_novo_Start_InFrame|CDC45_ENST00000263201.1_De_novo_Start_InFrame			O75419	CDC45_HUMAN	cell division cycle 45						DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						GTCCGGCCGCCGTGGCTATGT	0.672													6	68					0.00307968	0.00342669	0.038147	1	0	A	19467485	C	A	19467485	1	1	19	1	0	0	0	0	0	0	0	0	3103	667	23	4		4	CDC45	22	19467485	Translation_Start_Site	SNP	C	TCGA-CH-5764-01A-21D-1576-08		19467485	31837081	51	1065											
MED15	51586	broad.mit.edu	37	chr22	20937203	20937203	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagagcccagtgacggcgCggaccccacagaacttcagt	10	4	11	16	3	1	3	1	1	0	2	1	4	1	4	4	2	2	0	4	2	1	1			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chr22:20937203C>T	ENST00000263205.7	+	11	1555	c.1486C>T	c.(1486-1488)Cgg>Tgg	p.R496W	MED15_ENST00000382974.2_Missense_Mutation_p.R385W|MED15_ENST00000406969.1_Missense_Mutation_p.R430W|MED15_ENST00000292733.7_Missense_Mutation_p.R456W|MED15_ENST00000542773.1_Intron|MED15_ENST00000478831.1_3'UTR|MED15_ENST00000541476.1_Missense_Mutation_p.R430W|MED15_ENST00000425759.2_Missense_Mutation_p.R345W	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	496	Pro-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	p.R496W(1)|p.R456W(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			AGTGACGGCGCGGACCCCACA	0.602													7	95					0	0	0.02938	0	0	T	20937203	C	T	20937203	3	4	19	1	0	0	0	0	1	0	0	0	9483	759	27	1	1528	1	MED15	22	20937203	Missense_Mutation	SNP	C	TCGA-CH-5764-01A-21D-1576-08	1469718	20937203	30367363	52	1066											
MAGEA6	4105	broad.mit.edu	37	chrX	151869728	151869728	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaaatgctggggagtgtcGtcggaaattggcagtacttc	10	10	14	7	2	0	1	0	0	0	1	3	3	0	3	0	4	2	3	0	4	3	3			TCGA-CH-5764-01A-21D-1576-08	TCGA-CH-5764-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df9acd7f-8875-4113-aba6-e89844ca6a43	fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb	g.chrX:151869728G>A	ENST00000329342.5	+	3	643	c.418G>A	c.(418-420)Gtc>Atc	p.V140I		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	140	MAGE.						protein binding	p.V140I(2)		breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GGGGAGTGTCGTCGGAAATTG	0.527													4	150					0	0	0.014758	0	0	A	151869728	G	A	151869728	3	1	19	1	0	0	0	0	1	0	0	0	9218	1145	40	1	420	1	MAGEA6	23	151869728	Missense_Mutation	SNP	G	TCGA-CH-5764-01A-21D-1576-08		151869728	3400832	53	1067											
MRPL20	55052	broad.mit.edu	37	chr1	1341203	1341203	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccataccttaactaaattccCaatgagcgctggatacttca	13	11	5	12	1	1	1	1	1	0	0	2	2	2	2	3	1	4	1	3	1	6	6			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr1:1341203C>A	ENST00000482352.1	-	3	334	c.262G>T	c.(262-264)Ggg>Tgg	p.G88W	MRPL20_ENST00000344843.7_Missense_Mutation_p.G88W|MRPL20_ENST00000493287.1_5'UTR			Q9BYC9	RM20_HUMAN	mitochondrial ribosomal protein L20	88							protein binding|rRNA binding	p.G88W(1)		endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		ACTAAATTCCCAATGAGCGCT	0.448													13	289					0.000151284	0.000172592	0.435327	1	0	A	1341203	C	A	1341203	3	1	20	1	0	0	0	0	1	0	0	0	9835	594	21	4	195	4	MRPL20	1	1341203	Missense_Mutation	SNP	C	TCGA-CH-5765-01A-11D-1576-08		1341203	247909418	1	1068											
ERMAP	114625	broad.mit.edu	37	chr1	43296646	43296646	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccggaatataaggggaggaCggtgctagtgagagatgccc	11	6	17	7	2	0	2	0	1	0	1	0	6	0	5	2	5	2	1	2	5	4	3			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr1:43296646C>T	ENST00000328249.3	+	1	1061	c.23C>T	c.(22-24)aCg>aTg	p.T8M	ERMAP_ENST00000372514.3_Missense_Mutation_p.T98M|ERMAP_ENST00000372517.2_Missense_Mutation_p.T98M|ERMAP_ENST00000487556.1_Intron			Q96PL5	ERMAP_HUMAN	erythroblast membrane-associated protein (Scianna blood group)	98						integral to membrane|plasma membrane		p.T98M(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AAGGGGAGGACGGTGCTAGTG	0.562													22	45					0	0	0.639603	0	0	T	43296646	C	T	43296646	3	4	20	1	0	0	0	0	1	0	0	0	5262	536	19	1	299	1	ERMAP	1	43296646	Missense_Mutation	SNP	C	TCGA-CH-5765-01A-11D-1576-08	41955443	43296646	205953975	2	1069											
FLG	2312	broad.mit.edu	37	chr1	152284306	152284306	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgcctgttcatgggatgacGcagcctgtccaccagaggaa	9	9	12	11	1	1	2	1	1	0	1	2	4	2	4	4	2	2	2	4	2	1	2			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr1:152284306G>A	ENST00000368799.1	-	3	3091	c.3056C>T	c.(3055-3057)gCg>gTg	p.A1019V	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1019	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.A1019V(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGGGATGACGCAGCCTGTCC	0.582									Ichthyosis				288	577					0	0	0.870114	0	0	A	152284306	G	A	152284306	3	1	20	1	0	0	0	0	1	0	0	0	5955	1087	38	1	9133	1	FLG	1	152284306	Missense_Mutation	SNP	G	TCGA-CH-5765-01A-11D-1576-08	108987660	152284306	96966315	3	1070											
FCRL5	83416	broad.mit.edu	37	chr1	157504477	157504477	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgcagtagtaattcccTgaatgtccttcagtcagaga	10	12	10	9	0	2	2	2	1	0	1	4	3	4	2	2	0	1	4	2	0	3	4			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr1:157504477T>C	ENST00000361835.3	-	8	1765	c.1608A>G	c.(1606-1608)tcA>tcG	p.S536S	FCRL5_ENST00000368191.3_Silent_p.S451S|FCRL5_ENST00000368189.3_Silent_p.S536S|FCRL5_ENST00000356953.4_Silent_p.S536S|FCRL5_ENST00000368190.3_Silent_p.S536S	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	536	Ig-like C2-type 5.					integral to membrane|plasma membrane	receptor activity	p.S536S(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				AGTAATTCCCTGAATGTCCTT	0.512													31	55					0	0	0.760397	0	0	C	157504477	T	C	157504477	2	2	20	1	0	0	0	0	0	0	0	1	5831	1567	55	3		3	FCRL5	1	157504477	Silent	SNP	T	TCGA-CH-5765-01A-11D-1576-08	5220171	157504477	91746144	4	1071											
TPR	7175	broad.mit.edu	37	chr1	186295344	186295344	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcttcatcatcatcatcAtcttcctcatcctcttcata	9	17	0	15	0	11	0	8	0	3	0	13	0	13	0	2	0	0	0	2	0	1	4			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr1:186295344A>T	ENST00000367478.3	-	41	6209	c.5913T>A	c.(5911-5913)gaT>gaA	p.D1971E		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1971	Poly-Asp.				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	p.D1971E(2)|p.D1958E(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		catcatcatcatcttcctcat	0.423			T	NTRK1	papillary thyroid								27	49					0	0	0.667858	0	0	T	186295344	A	T	186295344	3	4	20	1	0	0	0	0	1	0	0	0	16477	214	8	5	1222	5	TPR	1	186295344	Missense_Mutation	SNP	A	TCGA-CH-5765-01A-11D-1576-08	28790867	186295344	62955277	5	1072											
USH2A	7399	broad.mit.edu	37	chr1	216052411	216052411	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcatagctaagtatgtctccGttctggatgagtgggggttt	7	15	13	6	1	3	1	1	1	2	0	4	2	3	2	1	3	1	4	1	3	3	5			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr1:216052411G>A	ENST00000366943.2	-	42	8639	c.8253C>T	c.(8251-8253)aaC>aaT	p.N2751N	USH2A_ENST00000307340.3_Silent_p.N2751N			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2751	Fibronectin type-III 14.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.N2751N(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTATGTCTCCGTTCTGGATGA	0.418										HNSCC(13;0.011)			60	111					0	0	0.870114	0	0	A	216052411	G	A	216052411	2	1	20	1	0	0	0	0	0	0	0	1	17096	1136	40	1		1	USH2A	1	216052411	Silent	SNP	G	TCGA-CH-5765-01A-11D-1576-08	29757067	216052411	33198210	6	1073											
OR2C3	81472	broad.mit.edu	37	chr1	247695757	247695757	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtttctagtgagggtcgtgtGgagaagcccaggaggacaaa	11	8	16	6	1	1	2	0	1	1	1	2	5	1	4	1	4	1	1	1	4	3	2	rs61746303	byFrequency	TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr1:247695757G>A	ENST00000366487.3	-	2	418	c.57C>T	c.(55-57)tcC>tcT	p.S19S	GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000366490.3_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S19S(1)|p.S18S(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			AGGGTCGTGTGGAGAAGCCCA	0.488													46	87					0	0	0.870114	0	0	A	247695757	G	A	247695757	2	1	20	1	0	0	0	0	0	0	0	1	11041	1335	47	2		2	OR2C3	1	247695757	Silent	SNP	G	TCGA-CH-5765-01A-11D-1576-08	31643346	247695757	1554864	7	1074											
DHX57	90957	broad.mit.edu	37	chr2	39088318	39088318	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttcctctaaaagggttaTcaaagaatatacgacaggtt	14	12	7	8	1	3	1	1	0	2	1	4	2	4	1	1	2	1	2	1	2	7	6			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr2:39088318T>C	ENST00000295373.6	-	5	1360	c.1234A>G	c.(1234-1236)Ata>Gta	p.I412V	DHX57_ENST00000479345.2_5'UTR	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	412							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	p.I412V(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				AAAAGGGTTATCAAAGAATAT	0.423													106	149					0	0	0.870114	0	0	C	39088318	T	C	39088318	3	2	20	1	0	0	0	0	1	0	0	0	4541	1435	50	3	3006	3	DHX57	2	39088318	Missense_Mutation	SNP	T	TCGA-CH-5765-01A-11D-1576-08		39088318	204111055	8	1075											
ARID5A	10865	broad.mit.edu	37	chr2	97216444	97216444	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccaccgagaggccgaagaagGccaaggaggagcggcgcatg	12	1	17	11	4	0	2	0	0	0	2	0	6	0	4	4	5	1	1	4	5	3	0			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr2:97216444G>A	ENST00000454558.2	+	6	1517	c.340G>A	c.(340-342)Gcc>Acc	p.A114T	ARID5A_ENST00000357485.3_Missense_Mutation_p.A182T			Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	182	ARID.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding	p.A182T(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						GCCGAAGAAGGCCAAGGAGGA	0.647													8	5					0	0	0.335167	0	0	A	97216444	G	A	97216444	3	1	20	1	0	0	0	0	1	0	0	0	918	1203	42	2	566	2	ARID5A	2	97216444	Missense_Mutation	SNP	G	TCGA-CH-5765-01A-11D-1576-08	58128126	97216444	145982929	9	1076											
TTN	7273	broad.mit.edu	37	chr2	179477937	179477937	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgatttgcttggttttccAggtccagcaagattttcagc	7	16	10	8	0	1	2	1	1	0	1	3	2	3	2	2	2	3	4	2	2	1	7			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr2:179477937A>G	ENST00000589042.1	-	264	49823	c.49599T>C	c.(49597-49599)ccT>ccC	p.P16533P	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Silent_p.P7468P|TTN_ENST00000591111.1_Silent_p.P14892P|TTN_ENST00000342175.6_Silent_p.P7660P|TTN_ENST00000342992.6_Silent_p.P13965P|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Silent_p.P7593P|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14892	Fibronectin type-III 20.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGGTTTTCCAGGTCCAGCAA	0.338													3	86					0	0	0.115264	0	0	G	179477937	A	G	179477937	2	3	20	1	0	0	0	0	0	0	0	1	16797	175	7	3		3	TTN	2	179477937	Silent	SNP	A	TCGA-CH-5765-01A-11D-1576-08	82261493	179477937	63721436	10	1077											
STAT4	6775	broad.mit.edu	37	chr2	191922752	191922752	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgccaaacttaccaaatgtcGaaattctactgagagactcc	14	10	6	11	1	1	2	0	1	1	1	3	4	2	2	3	0	4	0	3	0	5	3			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr2:191922752G>A	ENST00000392320.2	-	13	1512	c.1198C>T	c.(1198-1200)Cga>Tga	p.R400*	STAT4_ENST00000358470.4_Nonsense_Mutation_p.R400*	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	400					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.R400*(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			ACCAAATGTCGAAATTCTACT	0.363													45	78					0	0	0.859065	0	0	A	191922752	G	A	191922752	4	1	20	1	0	0	0	0	0	1	0	0	15323	1066	37	1	1096	1	STAT4	2	191922752	Nonsense_Mutation	SNP	G	TCGA-CH-5765-01A-11D-1576-08	12444815	191922752	51276621	11	1078											
MYNN	55892	broad.mit.edu	37	chr3	169497118	169497118	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagaacactctatgtctaatAtagccagcgtcaagagtcct	14	10	7	10	1	3	2	1	0	2	2	4	2	4	2	2	0	3	0	2	0	7	4			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr3:169497118A>G	ENST00000349841.5	+	3	1492	c.829A>G	c.(829-831)Ata>Gta	p.I277V	MYNN_ENST00000392733.1_Missense_Mutation_p.I277V|MYNN_ENST00000356716.4_Missense_Mutation_p.I277V|RP11-362K14.5_ENST00000602342.1_RNA|MYNN_ENST00000544106.1_Missense_Mutation_p.I277V	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	277						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.I277V(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			TATGTCTAATATAGCCAGCGT	0.458													28	59					0	0	0.706142	0	0	G	169497118	A	G	169497118	3	3	20	1	0	0	0	0	1	0	0	0	10109	449	16	3	835	3	MYNN	3	169497118	Missense_Mutation	SNP	A	TCGA-CH-5765-01A-11D-1576-08		169497118	28525312	12	1079											
ADH4	127	broad.mit.edu	37	chr4	100062745	100062745	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccacaatacctgcagccTcatggccaacgatcactggg	10	9	8	14	1	2	0	2	0	0	0	3	1	3	0	4	2	4	1	4	2	3	2			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr4:100062745T>C	ENST00000508393.1	-	4	431	c.266A>G	c.(265-267)gAg>gGg	p.E89G	ADH4_ENST00000265512.7_Missense_Mutation_p.E70G|ADH4_ENST00000423445.1_Missense_Mutation_p.E89G|ADH4_ENST00000505590.1_Missense_Mutation_p.E89G|RP11-696N14.1_ENST00000500358.2_RNA			P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	70					alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	NADH(DB00157)	ACCTGCAGCCTCATGGCCAAC	0.418													3	101					0	0	0.115264	0	0	C	100062745	T	C	100062745	3	2	20	1	0	0	0	0	1	0	0	0	309	1551	54	3	961	3	ADH4	4	100062745	Missense_Mutation	SNP	T	TCGA-CH-5765-01A-11D-1576-08		100062745	91091531	13	1080											
TNIP3	79931	broad.mit.edu	37	chr4	122063932	122063932	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatctgacaagcttttatCtaaagacaaaacaaaggcat	17	10	5	9	0	2	2	0	1	2	1	3	2	3	2	1	1	2	2	1	1	7	3			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr4:122063932C>A	ENST00000454328.1	-	10	963		c.e10-1		TNIP3_ENST00000509841.1_Splice_Site|TNIP3_ENST00000507879.1_Splice_Site|TNIP3_ENST00000057513.3_Splice_Site|TNIP3_ENST00000511909.1_Splice_Site			Q96KP6	TNIP3_HUMAN	TNFAIP3 interacting protein 3									p.?(1)		NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						AAGCTTTTATCTAAAGACAAA	0.338													34	163					2.47316e-13	2.94597e-13	0.779181	1	0	A	122063932	C	A	122063932	5	1	20	1	0	0	0	0	0	0	1	0	16376	927	32	4	258	4	TNIP3	4	122063932	Splice_Site	SNP	C	TCGA-CH-5765-01A-11D-1576-08	22001187	122063932	69090344	14	1081											
NEK1	4750	broad.mit.edu	37	chr4	170458976	170458976	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ataccatatgtccttcggctCgagctttattctgcatagct	8	15	7	11	2	1	0	0	0	1	0	4	1	2	0	2	1	4	4	2	1	4	7			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr4:170458976C>T	ENST00000439128.2	-	18	2289	c.1649G>A	c.(1648-1650)cGa>cAa	p.R550Q	NEK1_ENST00000510533.1_Missense_Mutation_p.R506Q|NEK1_ENST00000507142.1_Missense_Mutation_p.R550Q|NEK1_ENST00000512193.1_Missense_Mutation_p.R481Q|NEK1_ENST00000511633.1_Missense_Mutation_p.R506Q	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	550					cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R550Q(2)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		TCCTTCGGCTCGAGCTTTATT	0.383													11	503					0	0	0.361761	0	0	T	170458976	C	T	170458976	3	4	20	1	0	0	0	0	1	0	0	0	10368	884	31	1	2195	1	NEK1	4	170458976	Missense_Mutation	SNP	C	TCGA-CH-5765-01A-11D-1576-08	48395044	170458976	20695300	15	1082											
PDE8B	8622	broad.mit.edu	37	chr5	76709105	76709105	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgacgtcctgcacgccaccGctttctttcttggaaaggaa	8	10	9	14	4	2	0	0	0	2	0	3	3	3	2	4	2	1	2	4	2	2	3			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr5:76709105G>A	ENST00000264917.5	+	17	1927	c.1882G>A	c.(1882-1884)Gct>Act	p.A628T	PDE8B_ENST00000346042.3_Missense_Mutation_p.A531T|PDE8B_ENST00000333194.4_Missense_Mutation_p.A573T|PDE8B_ENST00000342343.4_Missense_Mutation_p.A608T|PDE8B_ENST00000505283.1_Missense_Mutation_p.A93T|PDE8B_ENST00000340978.3_Missense_Mutation_p.A581T	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	628	Catalytic (By similarity).				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	p.A628T(1)	GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		GCACGCCACCGCTTTCTTTCT	0.473													34	157					0	0	0.804634	0	0	A	76709105	G	A	76709105	3	1	20	1	0	0	0	0	1	0	0	0	11701	1087	38	1	1948	1	PDE8B	5	76709105	Missense_Mutation	SNP	G	TCGA-CH-5765-01A-11D-1576-08		76709105	104206155	16	1083											
PCDHA3	0	broad.mit.edu	37	chr5	140180975	140180975	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctggtgccgcgcctgttcCgggtggcgtccaaaagacac	7	7	14	13	4	0	1	0	0	0	1	2	1	2	1	4	3	2	2	4	3	2	1			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr5:140180975C>T	ENST00000522353.2	+	1	193	c.193C>T	c.(193-195)Cgg>Tgg	p.R65W	PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.R65W|PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCCTGTTCCGGGTGGCGTC	0.617													5	231					0	0	0.184627	0	0	T	140180975	C	T	140180975	3	4	20	1	0	0	0	0	1	0	0	0	11572	643	23	1	195	1	PCDHA3	5	140180975	Missense_Mutation	SNP	C	TCGA-CH-5765-01A-11D-1576-08	63471870	140180975	40734285	17	1084											
PCDHB5	0	broad.mit.edu	37	chr5	140515710	140515710	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccacaattcgcattgtcGtcttggataataatgacaac	13	11	6	11	2	1	1	0	1	1	0	3	2	1	2	2	1	1	1	2	1	4	5			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr5:140515710G>A	ENST00000231134.5	+	1	911	c.694G>A	c.(694-696)Gtc>Atc	p.V232I		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		232	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.V232I(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCGCATTGTCGTCTTGGATAA	0.552													33	433					0	0	0.740014	0	0	A	140515710	G	A	140515710	3	1	20	1	0	0	0	0	1	0	0	0	11592	1145	40	1	696	1	PCDHB5	5	140515710	Missense_Mutation	SNP	G	TCGA-CH-5765-01A-11D-1576-08	334735	140515710	40399550	18	1085											
NRCAM	4897	broad.mit.edu	37	chr7	107834822	107834822	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccaaagttccattttcaTgtaaaacataaatatcttca	15	16	2	8	0	3	0	2	0	1	0	5	0	5	0	2	0	1	2	2	0	6	8			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr7:107834822T>A	ENST00000379028.3	-	16	1984	c.1514A>T	c.(1513-1515)cAt>cTt	p.H505L	NRCAM_ENST00000351718.4_Missense_Mutation_p.H499L|NRCAM_ENST00000413765.2_Missense_Mutation_p.H486L|NRCAM_ENST00000379022.4_Missense_Mutation_p.H505L|NRCAM_ENST00000425651.2_Missense_Mutation_p.H505L|NRCAM_ENST00000379024.4_Missense_Mutation_p.H486L			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	505	Ig-like 5.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	p.H499L(1)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TCCATTTTCATGTAAAACATA	0.333													62	116					0	0	0.870114	0	0	A	107834822	T	A	107834822	3	1	20	1	0	0	0	0	1	0	0	0	10692	1464	51	5	2502	5	NRCAM	7	107834822	Missense_Mutation	SNP	T	TCGA-CH-5765-01A-11D-1576-08		107834822	51303841	19	1086											
PRKDC	5591	broad.mit.edu	37	chr8	48771531	48771531	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcacatcatcatgcaccGtggggtcccgctgctcctgc	6	8	10	17	2	2	0	2	0	0	0	4	0	4	0	4	2	4	4	4	2	0	0			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr8:48771531G>A	ENST00000314191.2	-	48	6277	c.6221C>T	c.(6220-6222)aCg>aTg	p.T2074M	PRKDC_ENST00000338368.3_Missense_Mutation_p.T2074M|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2075					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	p.T2075M(1)|p.T2074M(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				ATCATGCACCGTGGGGTCCCG	0.602								Non-homologous end-joining					7	265					0	0	0.27861	0	0	A	48771531	G	A	48771531	3	1	20	1	0	0	0	0	1	0	0	0	12573	1145	40	1	6322	1	PRKDC	8	48771531	Missense_Mutation	SNP	G	TCGA-CH-5765-01A-11D-1576-08		48771531	97592491	20	1087											
ADCY8	114	broad.mit.edu	37	chr8	131792813	131792813	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaagtcccaggacaaccgcGgccagggagtactgcccagg	11	3	13	14	2	0	0	0	0	0	0	1	2	1	2	4	4	3	1	4	4	3	1	rs146198447		TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr8:131792813G>A	ENST00000286355.5	-	18	5671	c.3579C>T	c.(3577-3579)gcC>gcT	p.A1193A	ADCY8_ENST00000377928.3_Silent_p.A1062A	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1193					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.A1193A(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GGACAACCGCGGCCAGGGAGT	0.498										HNSCC(32;0.087)			62	99					0	0	0.870114	0	0	A	131792813	G	A	131792813	2	1	20	1	0	0	0	0	0	0	0	1	299	1103	39	1		1	ADCY8	8	131792813	Silent	SNP	G	TCGA-CH-5765-01A-11D-1576-08	83021282	131792813	14571209	21	1088											
SYK	6850	broad.mit.edu	37	chr9	93637062	93637062	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggaccgaaagctgctgaCgctggaagacaaagaactgg	13	5	13	10	2	0	3	0	1	0	2	0	6	0	5	2	3	3	3	2	3	4	0			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr9:93637062C>T	ENST00000375754.4	+	9	1260	c.1112C>T	c.(1111-1113)aCg>aTg	p.T371M	SYK_ENST00000375747.1_Missense_Mutation_p.T348M|SYK_ENST00000375751.4_Missense_Mutation_p.T348M|SYK_ENST00000375746.1_Missense_Mutation_p.T371M	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	371	Protein kinase.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity	p.T348M(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						AAGCTGCTGACGCTGGAAGAC	0.522			T	"ETV6, ITK"	"MDS, peripheral T-cell lymphoma"								13	315					0	0	0.479597	0	0	T	93637062	C	T	93637062	3	4	20	1	0	0	0	0	1	0	0	0	15495	536	19	1	1142	1	SYK	9	93637062	Missense_Mutation	SNP	C	TCGA-CH-5765-01A-11D-1576-08		93637062	47576369	22	1089											
DDX50	79009	broad.mit.edu	37	chr10	70673941	70673941	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgttggaaaaatgactcaaaAggctgcaactactgtggaag	15	9	11	6	0	1	1	1	1	0	0	1	3	1	3	0	3	3	3	0	3	7	2			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr10:70673941A>G	ENST00000373585.3	+	7	1177	c.1070A>G	c.(1069-1071)aAg>aGg	p.K357R		NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	357						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						ATGACTCAAAAGGCTGCAACT	0.338													3	137					0	0	0.115264	0	0	G	70673941	A	G	70673941	3	3	20	1	0	0	0	0	1	0	0	0	4391	72	3	3	1096	3	DDX50	10	70673941	Missense_Mutation	SNP	A	TCGA-CH-5765-01A-11D-1576-08		70673941	64860806	23	1090											
SORBS1	10580	broad.mit.edu	37	chr10	97192297	97192297	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgaggcccggagagtcaccGctcccttcccagtgcagatt	8	7	11	15	3	1	2	1	0	0	2	3	4	3	2	4	2	1	2	4	2	0	2			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr10:97192297G>A	ENST00000371247.2	-	6	398	c.209C>T	c.(208-210)gCg>gTg	p.A70V	SORBS1_ENST00000371239.1_Missense_Mutation_p.A38V|SORBS1_ENST00000393949.1_Missense_Mutation_p.A70V|SORBS1_ENST00000371245.3_Missense_Mutation_p.A70V|SORBS1_ENST00000371246.2_Missense_Mutation_p.A70V|SORBS1_ENST00000347291.4_Missense_Mutation_p.A70V|SORBS1_ENST00000371241.1_Missense_Mutation_p.A38V|SORBS1_ENST00000306402.6_Missense_Mutation_p.A70V|SORBS1_ENST00000371227.4_Missense_Mutation_p.A70V|SORBS1_ENST00000361941.3_Missense_Mutation_p.A70V|SORBS1_ENST00000607232.1_Missense_Mutation_p.A38V|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000371249.2_Missense_Mutation_p.A38V|SORBS1_ENST00000354106.3_Missense_Mutation_p.A70V|SORBS1_ENST00000353505.5_Missense_Mutation_p.A70V|SORBS1_ENST00000277982.5_Missense_Mutation_p.A70V			Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1	70					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity	p.A70V(2)		NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		GAGAGTCACCGCTCCCTTCCC	0.517													45	86					0	0	0.847076	0	0	A	97192297	G	A	97192297	3	1	20	1	0	0	0	0	1	0	0	0	14981	1087	38	1	3978	1	SORBS1	10	97192297	Missense_Mutation	SNP	G	TCGA-CH-5765-01A-11D-1576-08	26518356	97192297	38342450	24	1091											
OR52R1	119695	broad.mit.edu	37	chr11	4825344	4825344	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgaatctcatgagcatgaaaCcagaatatggccaacatctt	15	10	7	9	0	2	4	1	3	2	1	3	4	2	4	2	1	3	1	2	1	5	2			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr11:4825344C>A	ENST00000380382.1	-	1	503	c.504G>T	c.(502-504)tgG>tgT	p.W168C	OR52R1_ENST00000356069.2_Missense_Mutation_p.W89C|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.W168C(1)|p.W88C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAGCATGAAACCAGAATATGG	0.527													31	56					3.99451e-17	4.90235e-17	0.740014	1	0	A	4825344	C	A	4825344	3	1	20	1	0	0	0	0	1	0	0	0	11179	508	18	4	683	4	OR52R1	11	4825344	Missense_Mutation	SNP	C	TCGA-CH-5765-01A-11D-1576-08		4825344	130181172	25	1092											
GIF	2694	broad.mit.edu	37	chr11	59608634	59608634	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acctgcatggcgaggccagtActgtagatgtctccaatgat	10	10	11	10	1	1	2	0	1	1	1	2	3	1	2	3	2	2	3	3	2	3	2			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr11:59608634A>G	ENST00000541311.1	-	5	834	c.600T>C	c.(598-600)agT>agC	p.S200S	GIF_ENST00000257248.2_Silent_p.S225S			P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	225					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding	p.S225S(1)		large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						CGAGGCCAGTACTGTAGATGT	0.463													57	101					0	0	0.870114	0	0	G	59608634	A	G	59608634	2	3	20	1	0	0	0	0	0	0	0	1	6418	388	14	3		3	GIF	11	59608634	Silent	SNP	A	TCGA-CH-5765-01A-11D-1576-08	54783290	59608634	75397882	26	1093											
DUSP16	80824	broad.mit.edu	37	chr12	12630584	12630584	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaaggaacgcttgagcttaTtgctgtcttccagcctgtct	8	13	10	10	1	2	2	0	1	2	1	3	3	3	3	2	1	4	3	2	1	3	4			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr12:12630584T>C	ENST00000228862.2	-	7	1812	c.1181A>G	c.(1180-1182)aAt>aGt	p.N394S	DUSP16_ENST00000298573.4_3'UTR	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	394					inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	p.N394S(1)		endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		CTTGAGCTTATTGCTGTCTTC	0.552													53	91					0	0	0.870114	0	0	C	12630584	T	C	12630584	3	2	20	1	0	0	0	0	1	0	0	0	4842	1493	52	3	820	3	DUSP16	12	12630584	Missense_Mutation	SNP	T	TCGA-CH-5765-01A-11D-1576-08		12630584	121221311	27	1094											
HNF1A	6927	broad.mit.edu	37	chr12	121437365	121437365	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggccaccaccctccacgtccCcagccaggaccctgccagca	8	3	8	22	1	0	0	0	0	0	0	2	1	2	1	9	2	3	1	9	2	0	0	rs144674840		TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr12:121437365C>T	ENST00000257555.6	+	9	1929	c.1703C>T	c.(1702-1704)cCc>cTc	p.P568L	HNF1A_ENST00000541395.1_Missense_Mutation_p.P599L|HNF1A_ENST00000544413.1_Missense_Mutation_p.P575L			P20823	HNF1A_HUMAN	HNF1 homeobox A	568					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.P568L(2)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CTCCACGTCCCCAGCCAGGAC	0.687									Hepatic Adenoma, Familial Clustering of				14	15					0	0	0.457914	0	0	T	121437365	C	T	121437365	3	4	20	1	0	0	0	0	1	0	0	0	7292	623	22	2	1737	2	HNF1A	12	121437365	Missense_Mutation	SNP	C	TCGA-CH-5765-01A-11D-1576-08	108806781	121437365	12414530	28	1095											
CLIP1	6249	broad.mit.edu	37	chr12	122825728	122825728	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgttgattctgcaaattttCtatttcgtgttggtaatcta	8	21	7	5	1	3	1	0	1	3	0	4	1	3	1	0	1	1	4	0	1	4	10			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr12:122825728C>A	ENST00000358808.2	-	10	2144	c.1990G>T	c.(1990-1992)Gaa>Taa	p.E664*	CLIP1_ENST00000545889.1_Nonsense_Mutation_p.E365*|CLIP1_ENST00000540338.1_Nonsense_Mutation_p.E675*|CLIP1_ENST00000537178.1_Nonsense_Mutation_p.E629*|CLIP1_ENST00000361654.4_Nonsense_Mutation_p.E629*|CLIP1_ENST00000302528.7_Nonsense_Mutation_p.E664*	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	675					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	p.E664*(1)		NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TGCAAATTTTCTATTTCGTGT	0.388													147	255					3.04763e-91	3.85716e-91	0.870114	1	0	A	122825728	C	A	122825728	4	1	20	1	0	0	0	0	0	1	0	0	3555	922	32	4	2357	4	CLIP1	12	122825728	Nonsense_Mutation	SNP	C	TCGA-CH-5765-01A-11D-1576-08	1388363	122825728	11026167	29	1096											
MTUS2	23281	broad.mit.edu	37	chr13	29599666	29599666	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgagcacacatcacattcCgcccatccagagcctgctct	10	8	7	16	1	2	2	1	1	1	1	4	2	4	2	4	0	3	2	4	0	0	1			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr13:29599666C>T	ENST00000431530.3	+	1	919	c.861C>T	c.(859-861)tcC>tcT	p.S287S		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	277						cytoplasm|microtubule	microtubule binding|protein homodimerization activity	p.S287S(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CATCACATTCCGCCCATCCAG	0.517													12	23					0	0	0.38729	0	0	T	29599666	C	T	29599666	2	4	20	1	0	0	0	0	0	0	0	1	10014	639	23	1		1	MTUS2	13	29599666	Silent	SNP	C	TCGA-CH-5765-01A-11D-1576-08		29599666	85570212	30	1097											
EFS	0	broad.mit.edu	37	chr14	23828655	23828655	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggggcctccataaccaggCaggcggggtgggggtggggg	5	6	22	8	1	0	0	0	0	0	0	1	0	1	0	3	10	1	1	3	10	1	2			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr14:23828655C>T	ENST00000216733.3	-	4	1639	c.1032G>A	c.(1030-1032)ctG>ctA	p.L344L	EFS_ENST00000429593.2_Silent_p.L175L|EFS_ENST00000351354.3_Silent_p.L251L	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	344	Pro-rich.				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding	p.L344L(1)		endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		CATAACCAGGCAGGCGGGGTG	0.687													33	61					0	0	0.760397	0	0	T	23828655	C	T	23828655	2	4	20	1	0	0	0	0	0	0	0	1	4985	697	25	2		2	EFS	14	23828655	Silent	SNP	C	TCGA-CH-5765-01A-11D-1576-08		23828655	83520885	31	1098											
NOVA1	4857	broad.mit.edu	37	chr14	26917261	26917261	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgtgttgcagctggtgtTccagtaatggttaccttccg	5	14	12	10	1	0	0	0	0	0	0	2	0	2	0	4	2	3	6	4	2	2	5			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr14:26917261T>C	ENST00000539517.2	-	5	1745	c.1428A>G	c.(1426-1428)ggA>ggG	p.G476G	NOVA1_ENST00000465357.2_Silent_p.G452G|NOVA1_ENST00000267422.7_Silent_p.G354G	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	479	KH 3.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding	p.G476G(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		CAGCTGGTGTTCCAGTAATGG	0.458													50	90					0	0	0.870114	0	0	C	26917261	T	C	26917261	2	2	20	1	0	0	0	0	0	0	0	1	10601	1770	62	3		3	NOVA1	14	26917261	Silent	SNP	T	TCGA-CH-5765-01A-11D-1576-08	3088606	26917261	80432279	32	1099											
CCNF	899	broad.mit.edu	37	chr16	2506607	2506607	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgaacccagaacagcattgCtgccaggaatccagtgatga	13	7	10	11	0	0	4	0	3	0	1	1	5	1	5	3	1	5	2	3	1	3	1			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr16:2506607C>T	ENST00000397066.4	+	17	2035	c.1947C>T	c.(1945-1947)tgC>tgT	p.C649C	RP11-715J22.4_ENST00000566085.1_lincRNA	NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	649	PEST.				cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding	p.C649C(3)		breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				AACAGCATTGCTGCCAGGAAT	0.607													25	42					0	0	0.693898	0	0	T	2506607	C	T	2506607	2	4	20	1	0	0	0	0	0	0	0	1	2944	805	28	2		2	CCNF	16	2506607	Silent	SNP	C	TCGA-CH-5765-01A-11D-1576-08		2506607	87848146	33	1100											
DDX19B	11269	broad.mit.edu	37	chr16	70363960	70363960	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccattgctcaagccatgAtcttctgccatgtgagtagc	9	12	8	12	0	4	2	2	2	2	0	4	2	4	2	3	0	4	2	3	0	2	3			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr16:70363960A>G	ENST00000288071.6	+	9	1257	c.1012A>G	c.(1012-1014)Atc>Gtc	p.I338V	DDX19B_ENST00000355992.3_Missense_Mutation_p.I307V|DDX19B_ENST00000451014.3_Missense_Mutation_p.I312V|DDX19B_ENST00000568625.1_Missense_Mutation_p.I229V|RP11-529K1.3_ENST00000567706.1_Intron|DDX19B_ENST00000563206.1_Missense_Mutation_p.I343V|RP11-529K1.2_ENST00000562077.1_RNA|DDX19B_ENST00000563392.1_Missense_Mutation_p.I229V|DDX19B_ENST00000393657.2_Missense_Mutation_p.I229V	NM_007242.5	NP_009173.1	Q9UMR2	DD19B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B	338	Helicase C-terminal.				mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	p.I338V(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)	9		Ovarian(137;0.0694)				TCAAGCCATGATCTTCTGCCA	0.592													11	150					0	0	0.457914	0	0	G	70363960	A	G	70363960	3	3	20	1	0	0	0	0	1	0	0	0	4370	333	12	3	1046	3	DDX19B	16	70363960	Missense_Mutation	SNP	A	TCGA-CH-5765-01A-11D-1576-08	67857353	70363960	19990793	34	1101											
HAP1	9001	broad.mit.edu	37	chr17	39881381	39881381	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaacccccgcacctgctctcGatcctcactgtagcgaaaat	11	8	6	16	3	2	0	1	0	1	0	4	2	3	0	4	0	3	3	4	0	4	1	rs151108506		TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr17:39881381G>A	ENST00000393939.2	-	10	1366	c.1357C>T	c.(1357-1359)Cga>Tga	p.R453*	JUP_ENST00000540235.1_Intron|HAP1_ENST00000347901.4_Nonsense_Mutation_p.R478*|HAP1_ENST00000341193.5_Nonsense_Mutation_p.R461*|HAP1_ENST00000310778.5_Nonsense_Mutation_p.R530*			P54257	HAP1_HUMAN	huntingtin-associated protein 1	477	Glu-rich.|HAP1 N-terminal.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			ACCTGCTCTCGATCCTCACTG	0.607													6	300					0	0	0.27861	0	0	A	39881381	G	A	39881381	4	1	20	1	0	0	0	0	0	1	0	0	6994	1066	37	1	431	1	HAP1	17	39881381	Nonsense_Mutation	SNP	G	TCGA-CH-5765-01A-11D-1576-08		39881381	41313829	35	1102											
MRPL38	64978	broad.mit.edu	37	chr17	73897875	73897875	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggccacgtgcagggggactCggggcacaaaggtggcaccg	9	3	18	11	3	0	0	0	0	0	0	1	1	0	1	2	7	1	3	2	7	1	0			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr17:73897875C>T	ENST00000309352.3	-	4	1046	c.509G>A	c.(508-510)cGa>cAa	p.R170Q	MRPL38_ENST00000585475.1_5'UTR|MRPL38_ENST00000409963.3_5'UTR	NM_032478.3	NP_115867.2	Q96DV4	RM38_HUMAN	mitochondrial ribosomal protein L38	170						actin cytoskeleton|mitochondrion|ribosome		p.R170Q(1)		ovary(1)|pancreas(1)|prostate(2)|skin(1)	5			all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154)			CAGGGGGACTCGGGGCACAAA	0.607													29	49					0	0	0.706142	0	0	T	73897875	C	T	73897875	3	4	20	1	0	0	0	0	1	0	0	0	9850	884	31	1	657	1	MRPL38	17	73897875	Missense_Mutation	SNP	C	TCGA-CH-5765-01A-11D-1576-08	34016494	73897875	7297335	36	1103											
ESCO1	114799	broad.mit.edu	37	chr18	19153404	19153406	+	In_Frame_Del	DEL	ATC	ATC	-																															ttattaatttctactgtaatAtcattaattttcacttcttc																										TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr18:19153404_19153406delATC	ENST00000269214.5	-	4	2336_2338	c.1399_1401delGAT	c.(1399-1401)del	p.D467del		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	467					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						CTACTGTAATATCATTAATTTTC	0.33													57	126	---	---	---	---						-	19153406	ATC	-	19153404	7	5	20	1	0	1	0	1	0	0	0	0	5276	446	16	0	1157	0	ESCO1	18	19153404	In_Frame_Del	DEL	ATC	TCGA-CH-5765-01A-11D-1576-08		19153404	58923844	37	1104											
CNDP1	84735	broad.mit.edu	37	chr18	72228208	72228208	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acgtgcagcctgctgaccggGgcgatgggtggctcacggac	6	6	17	12	4	1	1	1	1	0	0	1	3	1	2	2	5	3	3	2	5	0	0			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr18:72228208G>A	ENST00000582365.1	+	3	358	c.292G>A	c.(292-294)Ggc>Agc	p.G98S	CNDP1_ENST00000585136.1_Intron|CNDP1_ENST00000358821.3_Missense_Mutation_p.G141S			Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	141					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity	p.G141S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		TGCTGACCGGGGCGATGGGTG	0.622													87	132					0	0	0.870114	0	0	A	72228208	G	A	72228208	3	1	20	1	0	0	0	0	1	0	0	0	3616	1232	43	2	435	2	CNDP1	18	72228208	Missense_Mutation	SNP	G	TCGA-CH-5765-01A-11D-1576-08	53074804	72228208	5849040	38	1105											
GPATCH1	55094	broad.mit.edu	37	chr19	33603475	33603475	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtttgagtggcaccctgaCaagcttctatgtaagagatt	11	12	10	8	1	1	3	0	2	1	1	1	4	1	3	1	1	1	4	1	1	3	5			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr19:33603475C>A	ENST00000170564.2	+	13	2162	c.1848C>A	c.(1846-1848)gaC>gaA	p.D616E		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	616						catalytic step 2 spliceosome	nucleic acid binding	p.D616E(1)		breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					GGCACCCTGACAAGCTTCTAT	0.413													44	85					7.05121e-23	8.7869e-23	0.853193	1	0	A	33603475	C	A	33603475	3	1	20	1	0	0	0	0	1	0	0	0	6630	477	17	4	1898	4	GPATCH1	19	33603475	Missense_Mutation	SNP	C	TCGA-CH-5765-01A-11D-1576-08		33603475	25525508	39	1106											
ZNF223	7766	broad.mit.edu	37	chr19	44564709	44564709	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatcgagatgtgatgctggaGaacttcaggaacctgctgtc	10	11	12	8	1	1	3	1	1	0	2	3	6	1	4	1	2	4	2	1	2	3	2			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr19:44564709G>A	ENST00000591793.1	+	5	530	c.447G>A	c.(445-447)gaG>gaA	p.E149E	ZNF223_ENST00000588518.1_Intron|ZNF223_ENST00000434772.3_Silent_p.E39E|ZNF223_ENST00000585552.1_Silent_p.E39E			Q9UK11	ZN223_HUMAN	zinc finger protein 223	39					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E39E(1)		endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				TGATGCTGGAGAACTTCAGGA	0.532													97	191					0	0	0.870114	0	0	A	44564709	G	A	44564709	2	1	20	1	0	0	0	0	0	0	0	1	17835	933	33	2		2	ZNF223	19	44564709	Silent	SNP	G	TCGA-CH-5765-01A-11D-1576-08	10961234	44564709	14564274	40	1107											
RPS9	6203	broad.mit.edu	37	chr19	54710365	54710365	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcacctgaatcttcctccAcctgcccctctgatggttgc	5	11	9	16	0	2	2	0	2	2	0	4	2	4	2	6	2	2	2	6	2	1	2			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr19:54710365A>C	ENST00000441429.1	+	3	467	c.442A>C	c.(442-444)Acc>Ccc	p.T148P	RPS9_ENST00000391752.1_Intron|RPS9_ENST00000391751.3_Intron|RPS9_ENST00000391753.2_Intron|RPS9_ENST00000302907.4_Intron|RPS9_ENST00000402367.1_Intron			P46781	RS9_HUMAN	ribosomal protein S9	0	S4 RNA-binding.				endocrine pancreas development|positive regulation of cell proliferation|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome|translation regulator activity			NS(1)|breast(1)|kidney(11)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	20	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.18)		ATCTTCCTCCACCTGCCCCTC	0.592													9	12					0	0	0.457914	0	0	C	54710365	A	C	54710365	3	2	20	1	0	0	0	0	1	0	0	0	13714	174	6	5		5	RPS9	19	54710365	Missense_Mutation	SNP	A	TCGA-CH-5765-01A-11D-1576-08	10145656	54710365	4418618	41	1108											
NLRP5	126206	broad.mit.edu	37	chr19	56539873	56539873	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcatgtcctgtggtccctctAtggtgagtaccccaggcagt	6	11	12	12	0	1	1	0	1	1	0	3	1	3	1	4	3	1	3	4	3	2	2			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr19:56539873A>G	ENST00000390649.3	+	7	2274	c.2274A>G	c.(2272-2274)ctA>ctG	p.L758L		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	758						mitochondrion|nucleolus	ATP binding	p.L758L(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TGGTCCCTCTATGGTGAGTAC	0.527													8	346					0	0	0.335167	0	0	G	56539873	A	G	56539873	2	3	20	1	0	0	0	0	0	0	0	1	10527	436	16	3		3	NLRP5	19	56539873	Silent	SNP	A	TCGA-CH-5765-01A-11D-1576-08	1829508	56539873	2589110	42	1109											
CHD6	0	broad.mit.edu	37	chr20	40162157	40162157	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atggagatttgtagtcaaaaTtgacagaggcatcagacatt	15	11	10	5	0	2	4	2	1	0	3	2	5	2	4	0	2	0	2	0	2	3	4			TCGA-CH-5765-01A-11D-1576-08	TCGA-CH-5765-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23762450-360d-4930-b53b-611e0041327a	8994a220-e271-46ea-b68f-28388545c317	g.chr20:40162157T>C	ENST00000373233.3	-	3	263	c.86A>G	c.(85-87)aAt>aGt	p.N29S	CHD6_ENST00000373222.3_Missense_Mutation_p.N64S|CHD6_ENST00000309279.7_Missense_Mutation_p.N29S	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	29					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	p.N29S(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GTAGTCAAAATTGACAGAGGC	0.388													80	101					0	0	0.870114	0	0	C	40162157	T	C	40162157	3	2	20	1	0	0	0	0	1	0	0	0	3351	1493	52	3	8201	3	CHD6	20	40162157	Missense_Mutation	SNP	T	TCGA-CH-5765-01A-11D-1576-08		40162157	22863363	43	1110											
TCEB3	6924	broad.mit.edu	37	chr1	24083516	24083516	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagctttaaccccagccctGaggagccggcctatgatggc	8	8	11	14	1	1	2	1	2	0	0	1	3	1	3	5	3	4	1	5	3	2	3			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr1:24083516G>T	ENST00000418390.2	+	10	2507	c.2236G>T	c.(2236-2238)Gag>Tag	p.E746*		NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	746					positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		CCCCAGCCCTGAGGAGCCGGC	0.577													11	205					1.3612e-06	1.60142e-06	0.479597	1	0	T	24083516	G	T	24083516	4	4	21	1	0	0	0	0	0	1	0	0	15741	1291	45	4	2274	4	TCEB3	1	24083516	Nonsense_Mutation	SNP	G	TCGA-CH-5766-01A-11D-1576-08		24083516	225167105	1	1111											
CSMD2	114784	broad.mit.edu	37	chr1	34102104	34102104	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcaggtcggaccccacccGtgtgccgttcttgatggaac	6	10	11	14	3	2	1	1	1	1	0	3	3	2	3	4	3	2	1	4	3	1	3			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr1:34102104G>A	ENST00000373388.2	-	0	1664				CSMD2_ENST00000373380.1_Missense_Mutation_p.R482W|CSMD2_ENST00000373381.4_Missense_Mutation_p.R1609W			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2							integral to membrane|plasma membrane	protein binding	p.R1569W(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GACCCCACCCGTGTGCCGTTC	0.582													8	80					0	0	0.307466	0	0	A	34102104	G	A	34102104	1	1	21	1	0	0	0	0	0	0	0	0	3970	1144	40	1		1	CSMD2	1	34102104	Translation_Start_Site	SNP	G	TCGA-CH-5766-01A-11D-1576-08	10018588	34102104	215148517	2	1112											
GJB4	127534	broad.mit.edu	37	chr1	35227163	35227163	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctaccgcgaggaacgcgagcGcaagcaccacctgaaacacg	13	2	11	15	6	0	1	0	1	0	0	0	4	0	2	3	1	5	2	3	1	4	1	rs148723189	by1000genomes	TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr1:35227163G>A	ENST00000339480.1	+	2	678	c.308G>A	c.(307-309)cGc>cAc	p.R103H	RP1-34M23.5_ENST00000542839.1_RNA	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	103			R -> C (may be associated with deafness; dbSNP:rs9426009).		cell communication	connexon complex|integral to membrane	gap junction channel activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GAACGCGAGCGCAAGCACCAC	0.647													4	72					0	0	0.184627	0	0	A	35227163	G	A	35227163	3	1	21	1	0	0	0	0	1	0	0	0	6452	1087	38	1	310	1	GJB4	1	35227163	Missense_Mutation	SNP	G	TCGA-CH-5766-01A-11D-1576-08	1125059	35227163	214023458	3	1113											
NFYC	4802	broad.mit.edu	37	chr1	41218877	41218877	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcagtttgattttctcatcGatattgttccaagagatgaa	12	16	7	6	1	2	3	2	2	1	1	5	5	3	3	1	0	0	2	1	0	3	6			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr1:41218877G>A	ENST00000372652.1	+	5	614	c.346G>A	c.(346-348)Gat>Aat	p.D116N	NFYC_ENST00000372653.1_Missense_Mutation_p.D116N|NFYC_ENST00000372654.1_Missense_Mutation_p.D116N|NFYC_ENST00000308733.5_Missense_Mutation_p.D116N|NFYC_ENST00000440226.3_Missense_Mutation_p.D116N|NFYC_ENST00000427410.2_Missense_Mutation_p.D78N|NFYC_ENST00000425457.2_Missense_Mutation_p.D116N|NFYC_ENST00000372651.1_Missense_Mutation_p.D116N|NFYC_ENST00000447388.3_Missense_Mutation_p.D116N|NFYC_ENST00000456393.2_Missense_Mutation_p.D116N			Q13952	NFYC_HUMAN	nuclear transcription factor Y, gamma	116					protein folding|regulation of transcription from RNA polymerase II promoter	CCAAT-binding factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.D116N(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)			TTTTCTCATCGATATTGTTCC	0.423													19	69					0	0	0.539581	0	0	A	41218877	G	A	41218877	3	1	21	1	0	0	0	0	1	0	0	0	10438	1058	37	1	360	1	NFYC	1	41218877	Missense_Mutation	SNP	G	TCGA-CH-5766-01A-11D-1576-08	5991714	41218877	208031744	4	1114											
TMEM167B	56900	broad.mit.edu	37	chr1	109637041	109637041	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctcttttgcctgctagccGctgtgattggaaccaggctg	5	13	11	12	1	1	1	0	1	1	0	2	2	1	2	3	2	4	3	3	2	2	4			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr1:109637041G>T	ENST00000338272.7	+	3	283	c.145G>T	c.(145-147)Gct>Tct	p.A49S		NM_020141.3	NP_064526.1	Q9NRX6	KISHB_HUMAN	transmembrane protein 167B	49						Golgi membrane|integral to membrane		p.A49S(1)		endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)	7						CCTGCTAGCCGCTGTGATTGG	0.448													16	114					9.16793e-09	1.1226e-08	0.520397	1	0	T	109637041	G	T	109637041	3	4	21	1	0	0	0	0	1	0	0	0	16142	1087	38	4	155	4	TMEM167B	1	109637041	Missense_Mutation	SNP	G	TCGA-CH-5766-01A-11D-1576-08	68418164	109637041	139613580	5	1115											
SEC22B	9554	broad.mit.edu	37	chr1	145109975	145109976	+	RNA	INS	-	-	C																															cacatgtgacaggaactttgINSctaaagatctacttgattgg																								rs67257307		TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr1:145109975_145109976insC	ENST00000453618.1	+	0	673							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										CAGGAACTTTGCTAAAGATCTA	0.386													6	7	---	---	---	---						C	145109976	-	C	145109975	6	5	21	0	1	1	1	0	0	0	0	0	14043	1334	46	0		0	SEC22B	1	145109975	RNA	INS	-	TCGA-CH-5766-01A-11D-1576-08	35472934	145109975	104140646	6	1116											
KIF26B	55083	broad.mit.edu	37	chr1	245849237	245849237	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gataaggaagataatgggtcCgaaggtcagctgaccaacag	15	6	13	7	1	1	2	1	1	0	1	2	5	2	3	2	3	2	1	2	3	5	2			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr1:245849237C>A	ENST00000366518.4	+	9	1913	c.1809C>A	c.(1807-1809)tcC>tcA	p.S603S	KIF26B_ENST00000407071.2_Silent_p.S984S			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	984	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.S984S(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			ATAATGGGTCCGAAGGTCAGC	0.622													4	25					0.150653	0.164349	0.150653	1	0	A	245849237	C	A	245849237	2	1	21	1	0	0	0	0	0	0	0	1	8337	639	23	4		4	KIF26B	1	245849237	Silent	SNP	C	TCGA-CH-5766-01A-11D-1576-08	100739262	245849237	3401384	7	1117											
CTNNA2	1496	broad.mit.edu	37	chr2	80874842	80874842	+	Missense_Mutation	SNP	G	G	C																															cagcagctgtcaactcacctGttgtgtcttggaagatgaag																										TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr2:80874842G>C	ENST00000466387.1	+	22	3287	c.2563G>C	c.(2563-2565)Gtt>Ctt	p.V855L	CTNNA2_ENST00000402739.4_Missense_Mutation_p.V903L|CTNNA2_ENST00000361291.4_Missense_Mutation_p.V889L|CTNNA2_ENST00000541047.1_Missense_Mutation_p.V855L|CTNNA2_ENST00000540488.1_Missense_Mutation_p.V810L|CTNNA2_ENST00000496558.1_Missense_Mutation_p.V855L|CTNNA2_ENST00000343114.3_Missense_Mutation_p.V534L			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	903					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CAACTCACCTGTTGTGTCTTG	0.473													6	277					0	0	0.217242	0	0	C	80874842	G	C	80874842	3	2	21	1	0	0	0	0	1	0	0	0	4037	1377	48	4	2421	4	CTNNA2	2	80874842	Missense_Mutation	SNP	G	TCGA-CH-5766-01A-11D-1576-08		80874842	162324531	8	1118	9	2									
CTNNA2	1496	broad.mit.edu	37	chr2	80874843	80874843	+	Missense_Mutation	SNP	T	T	A																															agcagctgtcaactcacctgTtgtgtcttggaagatgaagg																										TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr2:80874843T>A	ENST00000466387.1	+	22	3288	c.2564T>A	c.(2563-2565)gTt>gAt	p.V855D	CTNNA2_ENST00000402739.4_Missense_Mutation_p.V903D|CTNNA2_ENST00000361291.4_Missense_Mutation_p.V889D|CTNNA2_ENST00000541047.1_Missense_Mutation_p.V855D|CTNNA2_ENST00000540488.1_Missense_Mutation_p.V810D|CTNNA2_ENST00000496558.1_Missense_Mutation_p.V855D|CTNNA2_ENST00000343114.3_Missense_Mutation_p.V534D			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	903					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AACTCACCTGTTGTGTCTTGG	0.473													6	276					0	0	0.217242	0	0	A	80874843	T	A	80874843	3	1	21	1	0	0	0	0	1	0	0	0	4037	1725	60	5	2422	5	CTNNA2	2	80874843	Missense_Mutation	SNP	T	TCGA-CH-5766-01A-11D-1576-08	1	80874843	162324530	9	1119	9	2									
LCT	3938	broad.mit.edu	37	chr2	136567431	136567431	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcagatttcctgggagtcCttgacttgctgctgtcgctg	5	13	13	10	1	0	2	0	1	0	1	3	3	2	3	2	2	2	4	2	2	0	3			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr2:136567431C>A	ENST00000264162.2	-	8	2496	c.2486G>T	c.(2485-2487)aGg>aTg	p.R829M		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	829	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CCTGGGAGTCCTTGACTTGCT	0.493													5	302					0.184627	0.194345	0.184627	1	0	A	136567431	C	A	136567431	3	1	21	1	0	0	0	0	1	0	0	0	8732	681	24	4	3337	4	LCT	2	136567431	Missense_Mutation	SNP	C	TCGA-CH-5766-01A-11D-1576-08	55692588	136567431	106631942	10	1120											
SCN7A	6332	broad.mit.edu	37	chr2	167262940	167262940	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttaacataggcaaaattaTacattccaaatacggcatag	17	12	5	7	1	0	0	0	0	0	0	1	0	1	0	1	2	3	2	1	2	9	8			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr2:167262940T>C	ENST00000409855.1	-	25	4325	c.4199A>G	c.(4198-4200)tAt>tGt	p.Y1400C		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1400					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.Y1400C(3)		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						GGCAAAATTATACATTCCAAA	0.353													22	151					0	0	0.608945	0	0	C	167262940	T	C	167262940	3	2	21	1	0	0	0	0	1	0	0	0	13977	1406	49	3	853	3	SCN7A	2	167262940	Missense_Mutation	SNP	T	TCGA-CH-5766-01A-11D-1576-08	30695509	167262940	75936433	11	1121											
TTN	7273	broad.mit.edu	37	chr2	179406214	179406214	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccacaatatatccagtcacTtgggagccaccgtcatcctc	10	10	6	15	1	2	0	2	0	0	0	6	1	5	1	5	1	1	0	5	1	3	3			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr2:179406214T>A	ENST00000589042.1	-	350	97814	c.97590A>T	c.(97588-97590)caA>caT	p.Q32530H	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Q29962H|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Q23465H|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Q23657H|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.Q30889H|TTN_ENST00000359218.5_Missense_Mutation_p.Q23590H|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	30889	Ig-like 143.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.Q23465H(2)|p.Q23657H(1)|p.Q29960H(1)|p.Q29962H(1)|p.Q23590H(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCCAGTCACTTGGGAGCCAC	0.498													11	30					0	0	0.411799	0	0	A	179406214	T	A	179406214	3	1	21	1	0	0	0	0	1	0	0	0	16797	1606	56	5	10441	5	TTN	2	179406214	Missense_Mutation	SNP	T	TCGA-CH-5766-01A-11D-1576-08	12143274	179406214	63793159	12	1122											
TTN	7273	broad.mit.edu	37	chr2	179604912	179604912	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gatttggtctgggggcatcaCcacgttgtcagaatgctctt	7	13	12	9	1	4	1	2	0	2	1	4	2	4	1	1	3	1	3	1	3	1	3			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr2:179604912C>G	ENST00000589042.1	-	48	13272	c.13048G>C	c.(13048-13050)Gtg>Ctg	p.V4350L	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Missense_Mutation_p.V3987L|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V4179L|TTN_ENST00000591111.1_Missense_Mutation_p.V4033L|TTN_ENST00000359218.5_Missense_Mutation_p.V4112L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4033	Ig-like 23.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.V4112L(1)|p.V3987L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGGGCATCACCACGTTGTCA	0.458													16	137					0	0	0.479597	0	0	G	179604912	C	G	179604912	3	3	21	1	0	0	0	0	1	0	0	0	16797	507	18	4	91741	4	TTN	2	179604912	Missense_Mutation	SNP	C	TCGA-CH-5766-01A-11D-1576-08	198698	179604912	63594461	13	1123											
ADAM23	8745	broad.mit.edu	37	chr2	207425911	207425911	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttggaggtgtctgttctcGcacaagaggagttggtgtga	7	13	15	6	1	2	2	0	1	2	1	3	4	2	4	0	4	0	3	0	4	1	3			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr2:207425911G>A	ENST00000264377.3	+	12	1557	c.1229G>A	c.(1228-1230)cGc>cAc	p.R410H	ADAM23_ENST00000374415.3_Missense_Mutation_p.R410H|ADAM23_ENST00000374416.1_Missense_Mutation_p.R410H	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	410	Peptidase M12B.				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.R410H(2)		NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		GTCTGTTCTCGCACAAGAGGA	0.413													25	65					0	0	0.654019	0	0	A	207425911	G	A	207425911	3	1	21	1	0	0	0	0	1	0	0	0	244	1087	38	1	1275	1	ADAM23	2	207425911	Missense_Mutation	SNP	G	TCGA-CH-5766-01A-11D-1576-08	27820999	207425911	35773462	14	1124											
HDAC11	79885	broad.mit.edu	37	chr3	13542247	13542247	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgctccagcgaccgtggCgggggcttctgtgcctatgc	4	9	14	14	3	1	0	0	0	1	0	2	1	2	0	3	3	4	2	3	3	1	2			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr3:13542247C>T	ENST00000433119.1	+	5	795	c.320C>T	c.(319-321)gCg>gTg	p.A107V	HDAC11_ENST00000404548.1_Intron|HDAC11_ENST00000402259.1_Intron|HDAC11_ENST00000402271.1_Intron|HDAC11_ENST00000404040.1_Intron|HDAC11_ENST00000295757.3_Silent_p.G149G|HDAC11_ENST00000522202.1_Silent_p.G98G|HDAC11_ENST00000446613.2_Intron|HDAC11_ENST00000437379.2_Silent_p.G121G|HDAC11_ENST00000405025.1_Intron|HDAC11_ENST00000495099.2_Intron			Q96DB2	HDA11_HUMAN	histone deacetylase 11	0	Histone deacetylase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex|plasma membrane	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding	p.G149G(2)		breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3)	13						GCGACCGTGGCGGGGGCTTCT	0.647											OREG0015412	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	7					0	0	0.150653	0	0	T	13542247	C	T	13542247	3	4	21	1	0	0	0	0	1	0	0	0	7047	755	27	1	469	1	HDAC11	3	13542247	Missense_Mutation	SNP	C	TCGA-CH-5766-01A-11D-1576-08		13542247	184480183	15	1125											
DLEC1	9940	broad.mit.edu	37	chr3	38135139	38135139	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatctgatctatatttctggTgaaaaaagccagccagaccc	13	10	8	10	0	3	3	0	2	3	1	3	4	3	3	3	1	2	0	3	1	5	3			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr3:38135139T>C	ENST00000308059.6	+	12	1821	c.1800T>C	c.(1798-1800)ggT>ggC	p.G600G	DLEC1_ENST00000452631.2_Silent_p.G600G|DLEC1_ENST00000346219.3_Silent_p.G600G			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	600					negative regulation of cell proliferation	cytoplasm		p.G600G(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		ATATTTCTGGTGAAAAAAGCC	0.493													28	93					0	0	0.693898	0	0	C	38135139	T	C	38135139	2	2	21	1	0	0	0	0	0	0	0	1	4580	1683	59	3		3	DLEC1	3	38135139	Silent	SNP	T	TCGA-CH-5766-01A-11D-1576-08	24592892	38135139	159887291	16	1126											
PSMD6	9861	broad.mit.edu	37	chr3	63996409	63996409	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagatctcctttcttgatagTttcttggtactgccagttct	6	18	7	10	0	4	2	0	1	4	1	5	2	4	2	2	1	2	3	2	1	2	7			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr3:63996409T>G	ENST00000492933.1	-	9	1316	c.1264A>C	c.(1264-1266)Act>Cct	p.T422P	PSMD6-AS2_ENST00000472046.1_RNA|PSMD6_ENST00000295901.4_Missense_Mutation_p.T369P|PSMD6_ENST00000394431.2_Missense_Mutation_p.T331P|PSMD6_ENST00000482510.1_Missense_Mutation_p.T330P	NM_001271779.1	NP_001258708.1	Q15008	PSMD6_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 6	369					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	ATPase activity|protein binding	p.T369P(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(1)	13		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000805)|Kidney(15;0.00188)|KIRC - Kidney renal clear cell carcinoma(15;0.00212)		TTCTTGATAGTTTCTTGGTAC	0.318													12	84					0	0	0.435327	0	0	G	63996409	T	G	63996409	3	3	21	1	0	0	0	0	1	0	0	0	12751	1725	60	5	68	5	PSMD6	3	63996409	Missense_Mutation	SNP	T	TCGA-CH-5766-01A-11D-1576-08	25861270	63996409	134026021	17	1127											
EPHB1	2047	broad.mit.edu	37	chr3	134911533	134911533	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagcagcgtcgggactttctGagtgaggcgagcatcatggg	9	8	16	8	3	2	2	1	2	1	0	3	4	2	3	0	3	3	2	0	3	1	1			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr3:134911533G>C	ENST00000398015.3	+	11	2368	c.1998G>C	c.(1996-1998)ctG>ctC	p.L666L	EPHB1_ENST00000493838.1_Silent_p.L227L	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	666	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GGGACTTTCTGAGTGAGGCGA	0.547													4	49					0	0	0.150653	0	0	C	134911533	G	C	134911533	2	2	21	1	0	0	0	0	0	0	0	1	5202	1277	45	4		4	EPHB1	3	134911533	Silent	SNP	G	TCGA-CH-5766-01A-11D-1576-08	70915124	134911533	63110897	18	1128											
OTUD4	54726	broad.mit.edu	37	chr4	146058804	146058804	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccataagtttgattatagaaCtgcttggatctaccacttct	11	15	6	9	0	2	2	0	1	2	1	2	3	2	3	2	1	3	2	2	1	5	7			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr4:146058804C>A	ENST00000454497.2	-	21	3065	c.2928G>T	c.(2926-2928)caG>caT	p.Q976H	OTUD4_ENST00000447906.2_Missense_Mutation_p.Q1041H|OTUD4_ENST00000455611.2_Intron	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	1040							protein binding	p.Q976H(1)|p.Q975H(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					GATTATAGAACTGCTTGGATC	0.413													47	384					6.1207e-33	7.65087e-33	0.864702	1	0	A	146058804	C	A	146058804	3	1	21	1	0	0	0	0	1	0	0	0	11361	564	20	4	225	4	OTUD4	4	146058804	Missense_Mutation	SNP	C	TCGA-CH-5766-01A-11D-1576-08		146058804	45095472	19	1129											
BDP1	55814	broad.mit.edu	37	chr5	70751835	70751835	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggatcctgccacggactctgCttccaagcccgcggagccca	7	6	11	17	3	1	0	0	0	1	0	3	3	3	3	5	3	4	1	5	3	1	1			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr5:70751835C>A	ENST00000358731.4	+	1	394	c.131C>A	c.(130-132)gCt>gAt	p.A44D	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	44	Interaction with ZBTB43.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		ACGGACTCTGCTTCCAAGCCC	0.642													5	48					0.184627	0.194345	0.184627	1	0	A	70751835	C	A	70751835	3	1	21	1	0	0	0	0	1	0	0	0	1393	797	28	4	133	4	BDP1	5	70751835	Missense_Mutation	SNP	C	TCGA-CH-5766-01A-11D-1576-08		70751835	110163425	20	1130											
HEXB	3074	broad.mit.edu	37	chr5	74016258	74016259	+	In_Frame_Ins	INS	-	-	AGA																															tgattttaatttaggtactcINSagaaacagaaacaacttttc																										TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr5:74016258_74016259insAGA	ENST00000511181.1	+	12	1660_1661	c.748_749insAGA	c.(748-750)gaa>AGAgaa	p.249_250insR	HEXB_ENST00000261416.7_In_Frame_Ins_p.474_475insR|HEXB_ENST00000513539.1_3'UTR|HEXB_ENST00000509579.1_5'UTR			P07686	HEXB_HUMAN	hexosaminidase B (beta polypeptide)	474					cell death	lysosome	cation binding|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|kidney(3)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.72e-57)		TTTAGGTACTCAGAAACAGAAA	0.361													20	74	---	---	---	---						AGA	74016259	-	AGA	74016258	7	5	21	1	0	1	1	0	0	0	0	0	7115	827	29	0	1469	0	HEXB	5	74016258	In_Frame_Ins	INS	-	TCGA-CH-5766-01A-11D-1576-08	3264423	74016258	106899002	21	1131											
SLC4A9	83697	broad.mit.edu	37	chr5	139744179	139744179	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagcctgggtcctctgcctaCgggtgcctctgccaataccc	6	9	10	16	1	2	0	0	0	2	0	3	0	3	0	6	2	6	0	6	2	4	2			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr5:139744179C>T	ENST00000230993.6	+	11	1727	c.1692C>T	c.(1690-1692)taC>taT	p.Y564Y	SLC4A9_ENST00000507527.1_Silent_p.Y564Y|SLC4A9_ENST00000506757.2_Silent_p.Y540Y|SLC4A9_ENST00000506545.1_Silent_p.Y540Y|SLC4A9_ENST00000432095.2_Silent_p.Y529Y	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	564	Membrane (anion exchange).					integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	p.Y564Y(2)|p.Y538Y(1)|p.Y540Y(1)		endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCTGCCTACGGGTGCCTCT	0.562													5	15					0	0	0.217242	0	0	T	139744179	C	T	139744179	2	4	21	1	0	0	0	0	0	0	0	1	14715	547	19	1		1	SLC4A9	5	139744179	Silent	SNP	C	TCGA-CH-5766-01A-11D-1576-08	65727921	139744179	41171081	22	1132											
SYNE1	23345	broad.mit.edu	37	chr6	152558076	152558076	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gctggtcctcatccagatggGaccacgtctagaaacacaac	12	7	9	13	1	2	2	1	0	1	2	4	3	4	3	3	2	2	1	3	2	3	1			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr6:152558076G>A	ENST00000367255.5	-	109	20676	c.20075C>T	c.(20074-20076)tCc>tTc	p.S6692F	SYNE1_ENST00000265368.4_Missense_Mutation_p.S6692F|SYNE1_ENST00000341594.5_Missense_Mutation_p.S6304F|SYNE1_ENST00000448038.1_Missense_Mutation_p.S6621F|SYNE1_ENST00000356820.4_Missense_Mutation_p.S1216F|SYNE1_ENST00000423061.1_Missense_Mutation_p.S6621F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6692					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.S6692F(3)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATCCAGATGGGACCACGTCTA	0.522										HNSCC(10;0.0054)			6	70					0	0	0.248553	0	0	A	152558076	G	A	152558076	3	1	21	1	0	0	0	0	1	0	0	0	15502	1174	41	2	6543	2	SYNE1	6	152558076	Missense_Mutation	SNP	G	TCGA-CH-5766-01A-11D-1576-08		152558076	18556991	23	1133											
OR2AE1	81392	broad.mit.edu	37	chr7	99474292	99474292	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatgacagatggcaacatagCggtcataggacatgacagct	14	7	12	8	1	1	3	1	2	0	1	1	5	1	4	0	3	3	2	0	3	3	2			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr7:99474292C>T	ENST00000316368.2	-	1	388	c.365G>A	c.(364-366)cGc>cAc	p.R122H		NM_001005276.1	NP_001005276.1	Q8NHA4	O2AE1_HUMAN	olfactory receptor, family 2, subfamily AE, member 1	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R122H(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					GGCAACATAGCGGTCATAGGA	0.488													30	82					0	0	0.706142	0	0	T	99474292	C	T	99474292	3	4	21	1	0	0	0	0	1	0	0	0	11031	768	27	1	610	1	OR2AE1	7	99474292	Missense_Mutation	SNP	C	TCGA-CH-5766-01A-11D-1576-08		99474292	59664371	24	1134											
ZAN	7455	broad.mit.edu	37	chr7	100348486	100348486	+	RNA	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactggcagaacacctccgtCaccgtcccctcaggacacca	10	6	7	18	2	2	1	2	0	0	1	4	2	4	2	6	2	2	1	6	2	2	1			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr7:100348486C>A	ENST00000542585.1	+	0	1636				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		p.V496V(3)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACACCTCCGTCACCGTCCCCT	0.642													7	41					0.00307968	0.00355348	0.27861	1	0	A	100348486	C	A	100348486	1	1	21	0	1	0	0	0	0	0	0	0	17573	813	29	4		4	ZAN	7	100348486	RNA	SNP	C	TCGA-CH-5766-01A-11D-1576-08	874194	100348486	58790177	25	1135											
ZFPM2	23414	broad.mit.edu	37	chr8	106814510	106814510	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgccatgcagagaaccatgCgcacacgcaagcgcagaaag	14	3	11	13	3	0	2	0	0	0	2	0	3	0	2	2	0	5	4	2	0	3	0			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr8:106814510C>T	ENST00000407775.2	+	8	2450	c.2200C>T	c.(2200-2202)Cgc>Tgc	p.R734C	ZFPM2_ENST00000517361.1_Missense_Mutation_p.R602C|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.R465C|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000520492.1_Missense_Mutation_p.R602C	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	734					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GAGAACCATGCGCACACGCAA	0.507													4	63					0	0	0.184627	0	0	T	106814510	C	T	106814510	3	4	21	1	0	0	0	0	1	0	0	0	17716	768	27	1	2230	1	ZFPM2	8	106814510	Missense_Mutation	SNP	C	TCGA-CH-5766-01A-11D-1576-08		106814510	39549512	26	1136											
CENPP	401541	broad.mit.edu	37	chr9	95108042	95108042	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aataatggagcccacagaatGctcagaattaagtgaatttg	16	10	9	6	0	1	3	1	1	0	2	1	4	1	4	1	1	2	1	1	1	6	3			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr9:95108042G>T	ENST00000375587.3	+	4	955	c.440G>T	c.(439-441)tGc>tTc	p.C147F		NM_001012267.1	NP_001012267.1	Q6IPU0	CENPP_HUMAN	centromere protein P	147					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	chromosome, centromeric region|cytosol|nucleoplasm		p.C147F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(1)	16						CCCACAGAATGCTCAGAATTA	0.289													16	56					0.006122	0.00693057	0.539581	1	0	T	95108042	G	T	95108042	3	4	21	1	0	0	0	0	1	0	0	0	3262	1319	46	4	454	4	CENPP	9	95108042	Missense_Mutation	SNP	G	TCGA-CH-5766-01A-11D-1576-08		95108042	46105389	27	1137											
KCNT1	57582	broad.mit.edu	37	chr9	138651633	138651633	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggctacggtgacgtcacGcccaagatctggccatcgca	8	7	13	13	4	2	2	1	1	1	1	3	2	2	2	2	3	1	2	2	3	2	1			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr9:138651633G>A	ENST00000298480.5	+	11	1037	c.963G>A	c.(961-963)acG>acA	p.T321T	KCNT1_ENST00000486577.2_Silent_p.T282T|KCNT1_ENST00000263604.3_Silent_p.T302T|KCNT1_ENST00000371757.2_Silent_p.T321T|KCNT1_ENST00000491806.2_Silent_p.T288T|KCNT1_ENST00000490355.2_Silent_p.T302T|KCNT1_ENST00000488444.2_Silent_p.T302T|KCNT1_ENST00000487664.1_Silent_p.T276T			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	321						membrane	binding|calcium-activated potassium channel activity	p.T321T(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GTGACGTCACGCCCAAGATCT	0.642													26	63					0	0	0.681144	0	0	A	138651633	G	A	138651633	2	1	21	1	0	0	0	0	0	0	0	1	8135	1074	38	1		1	KCNT1	9	138651633	Silent	SNP	G	TCGA-CH-5766-01A-11D-1576-08	43543591	138651633	2561798	28	1138											
LSP1	4046	broad.mit.edu	37	chr11	1904667	1904667	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcccggcctgcatgcctaCgaaaaggaggacagtgatga	12	5	14	10	2	0	2	0	2	0	0	0	5	0	4	3	4	3	1	3	4	3	1			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr11:1904667C>T	ENST00000406638.2	+	4	1491	c.189C>T	c.(187-189)taC>taT	p.Y63Y	LSP1_ENST00000311604.3_Silent_p.Y125Y|LSP1_ENST00000405957.2_Silent_p.Y63Y|LSP1_ENST00000485341.1_3'UTR|LSP1_ENST00000381775.1_Silent_p.Y253Y	NM_001013254.1|NM_001013255.1	NP_001013272.1|NP_001013273.1	P33241	LSP1_HUMAN	lymphocyte-specific protein 1	125					cellular component movement|cellular defense response	actin cytoskeleton|Golgi apparatus|plasma membrane	actin binding|signal transducer activity	p.Y63Y(1)|p.Y125Y(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		TGCATGCCTACGAAAAGGAGG	0.587													19	70					0	0	0.575678	0	0	T	1904667	C	T	1904667	2	4	21	1	0	0	0	0	0	0	0	1	9108	547	19	1		1	LSP1	11	1904667	Silent	SNP	C	TCGA-CH-5766-01A-11D-1576-08		1904667	133101849	29	1139											
CTSC	1075	broad.mit.edu	37	chr11	88068245	88068245	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccactacttttttttcttGtggtcctaaagaaaaaaaaa	15	14	4	8	0	1	1	0	0	1	1	2	1	2	1	2	1	1	0	2	1	7	7			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr11:88068245G>C	ENST00000524463.1	-	2	266	c.178C>G	c.(178-180)Caa>Gaa	p.Q60E	CTSC_ENST00000393301.4_5'UTR|CTSC_ENST00000529974.1_Missense_Mutation_p.Q60E|CTSC_ENST00000227266.5_Missense_Mutation_p.Q60E	NM_001114173.1|NM_148170.3	NP_001107645.1|NP_680475.1	P53634	CATC_HUMAN	cathepsin C	60					immune response	lysosome	cysteine-type endopeptidase activity	p.Q60E(1)		large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTTTTTTCTTGTGGTCCTAAA	0.353													10	81					0	0	0.361761	0	0	C	88068245	G	C	88068245	3	2	21	1	0	0	0	0	1	0	0	0	4055	1386	48	4	1368	4	CTSC	11	88068245	Missense_Mutation	SNP	G	TCGA-CH-5766-01A-11D-1576-08	86163578	88068245	46938271	30	1140											
TSPAN9	10867	broad.mit.edu	37	chr12	3390977	3390977	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggggatgtgcatcctcatCatgcaggtaagaggggcgtc	8	9	16	8	1	2	1	2	0	0	1	4	2	3	2	1	5	2	3	1	5	1	1			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr12:3390977C>T	ENST00000011898.5	+	8	803	c.642C>T	c.(640-642)atC>atT	p.I214I	TSPAN9_ENST00000537971.1_Silent_p.I214I|TSPAN9_ENST00000407263.1_Silent_p.I214I	NM_006675.4	NP_006666.1	O75954	TSN9_HUMAN	tetraspanin 9	214						integral to plasma membrane|membrane fraction		p.I214I(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)			GCATCCTCATCATGCAGGTAA	0.587													16	24					0	0	0.520397	0	0	T	3390977	C	T	3390977	2	4	21	1	0	0	0	0	0	0	0	1	16715	816	29	2		2	TSPAN9	12	3390977	Silent	SNP	C	TCGA-CH-5766-01A-11D-1576-08		3390977	130460918	31	1141											
C12orf63	0	broad.mit.edu	37	chr12	97137249	97137249	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaaaaagcgcaggggacaCggaactgcaggctgaattct	13	5	14	9	2	1	1	0	1	1	0	1	3	1	3	0	5	3	4	0	5	4	1			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr12:97137249C>T	ENST00000524981.3	+	20	2642	c.2642C>T	c.(2641-2643)aCg>aTg	p.T881M				Q6ZTY8	CL063_HUMAN		855								p.T855M(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						GCAGGGGACACGGAACTGCAG	0.413													10	106					0	0	0.335167	0	0	T	97137249	C	T	97137249	3	4	21	1	0	0	0	0	1	0	0	0	1712	536	19	1	2638	1	C12orf63	12	97137249	Missense_Mutation	SNP	C	TCGA-CH-5766-01A-11D-1576-08	93746272	97137249	36714646	32	1142											
CARS2	79587	broad.mit.edu	37	chr13	111294811	111294811	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccggaccttctgccggaaccGcaccagctcgtccaccacac	8	5	8	20	4	1	0	0	0	1	0	3	2	2	2	7	2	3	2	7	2	1	1			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr13:111294811G>A	ENST00000257347.4	-	14	1537	c.1474C>T	c.(1474-1476)Cgg>Tgg	p.R492W		NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial (putative)	492					cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding	p.R492W(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	TGCCGGAACCGCACCAGCTCG	0.672													3	16					0	0	0.115264	0	0	A	111294811	G	A	111294811	3	1	21	1	0	0	0	0	1	0	0	0	2676	1086	38	1	228	1	CARS2	13	111294811	Missense_Mutation	SNP	G	TCGA-CH-5766-01A-11D-1576-08		111294811	3875067	33	1143											
SIX1	6495	broad.mit.edu	37	chr14	61115426	61115426	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctgggtggtggtgaggccgGtggcctcggccagctcccgc	2	7	18	14	3	0	1	0	1	0	0	2	1	1	1	5	7	1	1	5	7	0	0			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr14:61115426G>C	ENST00000247182.6	-	1	754	c.482C>G	c.(481-483)aCc>aGc	p.T161S	SIX1_ENST00000554986.1_Intron	NM_005982.3	NP_005973.1	Q15475	SIX1_HUMAN	SIX homeobox 1	161					branching involved in ureteric bud morphogenesis|embryonic cranial skeleton morphogenesis|epithelial cell differentiation|inner ear morphogenesis|mesonephric tubule formation|metanephric mesenchyme development|myoblast migration|negative regulation of neuron apoptosis|organ induction|pattern specification process|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|protein localization to nucleus|regulation of branch elongation involved in ureteric bud branching|regulation of neuron differentiation|skeletal muscle tissue development|thymus development|thyroid gland development	nucleolus|transcription factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0201)		GGTGAGGCCGGTGGCCTCGGC	0.647													6	78					0	0	0.217242	0	0	C	61115426	G	C	61115426	3	2	21	1	0	0	0	0	1	0	0	0	14401	1261	44	4	380	4	SIX1	14	61115426	Missense_Mutation	SNP	G	TCGA-CH-5766-01A-11D-1576-08		61115426	46234114	34	1144											
SYNE2	23224	broad.mit.edu	37	chr14	64580250	64580250	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggaaacattaaacgcagaCatgcagcaggtgctggaaca	15	5	11	10	2	0	1	0	0	0	1	0	3	0	3	1	3	6	4	1	3	4	1			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr14:64580250C>T	ENST00000357395.3	+	67	13100	c.1956C>T	c.(1954-1956)gaC>gaT	p.D652D	SYNE2_ENST00000554584.1_Silent_p.D4282D|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Silent_p.D652D|SYNE2_ENST00000358025.3_Silent_p.D4267D|SYNE2_ENST00000555002.1_Silent_p.D901D|SYNE2_ENST00000344113.4_Silent_p.D4267D			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4267					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	p.D4267D(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TAAACGCAGACATGCAGCAGG	0.557													11	19					0	0	0.361761	0	0	T	64580250	C	T	64580250	2	4	21	1	0	0	0	0	0	0	0	1	15503	477	17	2		2	SYNE2	14	64580250	Silent	SNP	C	TCGA-CH-5766-01A-11D-1576-08	3464824	64580250	42769290	35	1145											
CHSY1	22856	broad.mit.edu	37	chr15	101718218	101718218	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaatctgcatgtcggctttaGggtacttaatgcggtaatct	10	14	10	7	2	2	0	0	0	2	0	3	0	2	0	0	3	3	4	0	3	5	5			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr15:101718218G>T	ENST00000254190.3	-	3	2259	c.1784C>A	c.(1783-1785)cCt>cAt	p.P595H	CHSY1_ENST00000543813.1_5'UTR	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	595					chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GTCGGCTTTAGGGTACTTAAT	0.458													4	104					0.150653	0.164349	0.150653	1	0	T	101718218	G	T	101718218	3	4	21	1	0	0	0	0	1	0	0	0	3434	1000	35	4	628	4	CHSY1	15	101718218	Missense_Mutation	SNP	G	TCGA-CH-5766-01A-11D-1576-08		101718218	813174	36	1146											
MPP2	4355	broad.mit.edu	37	chr17	41956753	41956753	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtaagggacaaactcggccgTtcgtagcaccttcaccgcct	9	8	10	14	4	1	0	1	0	0	0	3	1	1	1	4	2	2	4	4	2	3	4			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr17:41956753T>C	ENST00000269095.4	-	12	1676	c.1372A>G	c.(1372-1374)Acg>Gcg	p.T458A	MPP2_ENST00000536246.1_Missense_Mutation_p.T447A|MPP2_ENST00000523501.1_Missense_Mutation_p.T447A|MPP2_ENST00000520305.1_Missense_Mutation_p.T319A|MPP2_ENST00000518766.1_Missense_Mutation_p.T503A|MPP2_ENST00000461854.1_Missense_Mutation_p.T482A|MPP2_ENST00000377184.3_Missense_Mutation_p.T475A	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365.3	Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	482	Guanylate kinase-like.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		AACTCGGCCGTTCGTAGCACC	0.572													7	123					0	0	0.307466	0	0	C	41956753	T	C	41956753	3	2	21	1	0	0	0	0	1	0	0	0	9783	1725	60	3	294	3	MPP2	17	41956753	Missense_Mutation	SNP	T	TCGA-CH-5766-01A-11D-1576-08		41956753	39238457	37	1147											
ANKRD12	23253	broad.mit.edu	37	chr18	9221994	9221994	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatgatgatgaaagttacAcaggtttgtttcagataatc	13	14	9	5	0	1	5	1	4	0	1	2	5	1	5	0	1	1	3	0	1	3	4			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr18:9221994A>G	ENST00000383440.2	+	7	1128	c.871A>G	c.(871-873)Aca>Gca	p.T291A	ANKRD12_ENST00000400020.3_Missense_Mutation_p.T291A|ANKRD12_ENST00000540578.2_3'UTR|ANKRD12_ENST00000262126.3_Missense_Mutation_p.T314A	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	314						nucleus		p.T314A(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TGAAAGTTACACAGGTTTGTT	0.348													10	113					0	0	0.38729	0	0	G	9221994	A	G	9221994	3	3	21	1	0	0	0	0	1	0	0	0	636	159	6	3	966	3	ANKRD12	18	9221994	Missense_Mutation	SNP	A	TCGA-CH-5766-01A-11D-1576-08		9221994	68855254	38	1148											
MOCOS	55034	broad.mit.edu	37	chr18	33836994	33836994	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcacagtatctgctgatcaAcacatccagtattttggaac	12	11	8	10	0	2	1	1	1	1	0	3	2	3	2	1	2	3	4	1	2	4	4			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr18:33836994A>T	ENST00000261326.5	+	12	2249	c.2228A>T	c.(2227-2229)aAc>aTc	p.N743I	MOCOS_ENST00000588132.1_3'UTR	NM_017947.2	NP_060417.2	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	743	MOSC.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding	p.N743I(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	CTGCTGATCAACACATCCAGT	0.453													57	179					0	0	0.870114	0	0	T	33836994	A	T	33836994	3	4	21	1	0	0	0	0	1	0	0	0	9738	43	2	5	2274	5	MOCOS	18	33836994	Missense_Mutation	SNP	A	TCGA-CH-5766-01A-11D-1576-08	24615000	33836994	44240254	39	1149											
CCDC105	126402	broad.mit.edu	37	chr19	15132676	15132676	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctggacagacccctggttcGcatgtaccagagacacgtgg	9	7	13	12	2	0	2	0	0	0	2	1	4	0	3	3	3	1	4	3	3	1	2			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr19:15132676G>A	ENST00000292574.3	+	6	1278	c.1196G>A	c.(1195-1197)cGc>cAc	p.R399H		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	399					microtubule cytoskeleton organization	microtubule		p.R399H(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						CCCCTGGTTCGCATGTACCAG	0.642													35	88					0	0	0.769981	0	0	A	15132676	G	A	15132676	3	1	21	1	0	0	0	0	1	0	0	0	2758	1087	38	1	1218	1	CCDC105	19	15132676	Missense_Mutation	SNP	G	TCGA-CH-5766-01A-11D-1576-08		15132676	43996307	40	1150											
SPTBN4	57731	broad.mit.edu	37	chr19	41062020	41062020	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agccggcggcagtctcaggtGgaccgcctgtacgtggcgct	5	7	16	13	5	1	0	1	0	1	0	2	1	1	1	3	5	2	3	3	5	1	1			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr19:41062020G>A	ENST00000352632.3	+	25	5201	c.5115G>A	c.(5113-5115)gtG>gtA	p.V1705V	SPTBN4_ENST00000392023.1_Silent_p.V381V|SPTBN4_ENST00000598249.1_Silent_p.V1705V|SPTBN4_ENST00000392025.1_Silent_p.V448V|SPTBN4_ENST00000595535.1_Silent_p.V1705V|SPTBN4_ENST00000338932.3_Silent_p.V1705V			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1705					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	p.V1705V(1)		breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGTCTCAGGTGGACCGCCTGT	0.662													6	53					0	0	0.248553	0	0	A	41062020	G	A	41062020	2	1	21	1	0	0	0	0	0	0	0	1	15177	1335	47	2		2	SPTBN4	19	41062020	Silent	SNP	G	TCGA-CH-5766-01A-11D-1576-08	25929344	41062020	18066963	41	1151											
BAGE2	85319	broad.mit.edu	37	chr21	11042391	11042393	+	RNA	DEL	CAA	CAA	-																															acacacacacacacacacccCaaaaaaaaaaaaaacacctc																								rs76695243		TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr21:11042391_11042393delCAA	ENST00000470054.1	-	0	774									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)		acacacaccccaaaaaaaaaaaa	0.419													3	3	---	---	---	---						-	11042393	CAA	-	11042391	6	5	21	0	1	1	0	1	0	0	0	0	1290	609	21	0		0	BAGE2	21	11042391	RNA	DEL	CAA	TCGA-CH-5766-01A-11D-1576-08		11042391	37087504	42	1152											
DOPEY2	9980	broad.mit.edu	37	chr21	37586800	37586800	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgtggaggaacgccatcatGcatacctgaagccttttcgc	10	9	10	12	3	1	1	1	1	0	0	2	3	1	3	3	2	4	1	3	2	3	3			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr21:37586800G>A	ENST00000399151.3	+	9	1160	c.1075G>A	c.(1075-1077)Gca>Aca	p.A359T		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	359					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane		p.A359T(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						ACGCCATCATGCATACCTGAA	0.393													9	70					0	0	0.335167	0	0	A	37586800	G	A	37586800	3	1	21	1	0	0	0	0	1	0	0	0	4735	1319	46	2	1105	2	DOPEY2	21	37586800	Missense_Mutation	SNP	G	TCGA-CH-5766-01A-11D-1576-08	26544409	37586800	10543095	43	1153											
COL6A1	1291	broad.mit.edu	37	chr21	47421898	47421898	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagccagggcagtcgtacgcGggtgtggtgcagtacagcca	8	6	17	10	3	0	0	0	0	0	0	1	1	0	0	2	3	5	4	2	3	2	2			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chr21:47421898G>A	ENST00000361866.3	+	31	2094	c.1980G>A	c.(1978-1980)gcG>gcA	p.A660A	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	660	C-terminal globular domain.|VWFA 2.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding	p.A660A(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	AGTCGTACGCGGGTGTGGTGC	0.652													5	19					0	0	0.217242	0	0	A	47421898	G	A	47421898	2	1	21	1	0	0	0	0	0	0	0	1	3722	1103	39	1		1	COL6A1	21	47421898	Silent	SNP	G	TCGA-CH-5766-01A-11D-1576-08	9835098	47421898	707997	44	1154											
WNK3	65267	broad.mit.edu	37	chrX	54359994	54359994	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tactgtttttctcctttagtCtagcttctactgtcaaagtt	7	20	5	9	0	4	0	1	0	3	0	5	0	4	0	1	0	3	3	1	0	5	9			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chrX:54359994C>T	ENST00000354646.2	-	2	551	c.113G>A	c.(112-114)aGa>aAa	p.R38K	WNK3_ENST00000375159.2_Missense_Mutation_p.R38K|WNK3_ENST00000375169.3_Missense_Mutation_p.R38K	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	38					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity	p.R38K(2)		autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						CTCCTTTAGTCTAGCTTCTAC	0.428													8	125					0	0	0.335167	0	0	T	54359994	C	T	54359994	3	4	21	1	0	0	0	0	1	0	0	0	17439	913	32	2	5381	2	WNK3	23	54359994	Missense_Mutation	SNP	C	TCGA-CH-5766-01A-11D-1576-08		54359994	100910566	45	1155											
CENPI	2491	broad.mit.edu	37	chrX	100364926	100364926	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatgtttgacttcattgatcGtaaggagcaaattaacttgc	13	14	8	6	1	1	2	1	2	0	0	2	3	1	3	0	1	3	3	0	1	4	6			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chrX:100364926G>A	ENST00000372927.1	+	5	807	c.530G>A	c.(529-531)cGt>cAt	p.R177H	CENPI_ENST00000218507.5_Missense_Mutation_p.R177H|CENPI_ENST00000423383.1_Missense_Mutation_p.R177H|CENPI_ENST00000372926.1_Missense_Mutation_p.R177H	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	177					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding	p.R177H(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						TTCATTGATCGTAAGGAGCAA	0.338													33	26					0	0	0.779181	0	0	A	100364926	G	A	100364926	3	1	21	1	0	0	0	0	1	0	0	0	3255	1145	40	1	544	1	CENPI	23	100364926	Missense_Mutation	SNP	G	TCGA-CH-5766-01A-11D-1576-08	46004932	100364926	54905634	46	1156											
FRMD7	90167	broad.mit.edu	37	chrX	131219961	131219961	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacttacatgtgcttctgatGaaagtgcatgatcttgccct	9	15	8	9	0	2	3	0	3	2	0	2	3	2	3	1	0	5	2	1	0	3	4			TCGA-CH-5766-01A-11D-1576-08	TCGA-CH-5766-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a89263-a535-44dc-b2d4-86405c5a3191	8190fde9-3acf-40d4-90c8-2344c571c55e	g.chrX:131219961G>A	ENST00000298542.4	-	6	659	c.484C>T	c.(484-486)Cat>Tat	p.H162Y	FRMD7_ENST00000370879.1_Missense_Mutation_p.H42Y|FRMD7_ENST00000464296.1_Missense_Mutation_p.H147Y	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	162	FERM.				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding	p.H162Y(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					TGCTTCTGATGAAAGTGCATG	0.443													73	88					0	0	0.870114	0	0	A	131219961	G	A	131219961	3	1	21	1	0	0	0	0	1	0	0	0	6090	1290	45	2	1688	2	FRMD7	23	131219961	Missense_Mutation	SNP	G	TCGA-CH-5766-01A-11D-1576-08	30855035	131219961	24050599	47	1157											
NOTCH2	4853	broad.mit.edu	37	chr1	120539834	120539834	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcattgacatcagtctcAcatttctgccctgtgaagcc	9	12	6	14	0	4	2	3	2	2	0	5	2	4	2	2	0	2	0	2	0	1	2			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr1:120539834A>T	ENST00000256646.2	-	4	756	c.537T>A	c.(535-537)tgT>tgA	p.C179*	NOTCH2_ENST00000602566.1_Nonsense_Mutation_p.C140*	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	179	EGF-like 4.				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.C179*(1)|p.C140*(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CATCAGTCTCACATTTCTGCC	0.552			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome				9	81					0	0	0.058154	0	0	T	120539834	A	T	120539834	4	4	22	1	0	0	0	0	0	1	0	0	10595	157	6	5	7002	5	NOTCH2	1	120539834	Nonsense_Mutation	SNP	A	TCGA-CH-5767-01A-11D-1786-08		120539834	128710787	1	1158											
OR2T6	254879	broad.mit.edu	37	chr1	248551568	248551568	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgactgcatcctacaccaGgattctcatcacagtgcatc	10	10	8	13	0	2	1	2	1	1	0	5	2	3	2	2	2	3	2	2	2	1	2			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr1:248551568G>T	ENST00000355728.2	+	1	659	c.659G>T	c.(658-660)aGg>aTg	p.R220M		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCCTACACCAGGATTCTCATC	0.517													7	106					0.000274275	0.000326293	0.047766	1	0	T	248551568	G	T	248551568	3	4	22	1	0	0	0	0	1	0	0	0	11077	1000	35	4	661	4	OR2T6	1	248551568	Missense_Mutation	SNP	G	TCGA-CH-5767-01A-11D-1786-08	128011734	248551568	699053	2	1159											
BIRC6	57448	broad.mit.edu	37	chr2	32824954	32824954	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcgattcaatccaaacctttAtaatgatggcaaggtaaatt	15	12	7	7	1	1	1	1	1	0	0	2	2	2	1	2	2	1	2	2	2	7	6			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr2:32824954A>C	ENST00000421745.2	+	70	14113	c.13979A>C	c.(13978-13980)tAt>tCt	p.Y4660S		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4660	Ubiquitin-conjugating.				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	p.Y4660S(2)|p.Y4632S(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CCAAACCTTTATAATGATGGC	0.333													3	39					0	0	0.004672	0	0	C	32824954	A	C	32824954	3	2	22	1	0	0	0	0	1	0	0	0	1437	449	16	5	14257	5	BIRC6	2	32824954	Missense_Mutation	SNP	A	TCGA-CH-5767-01A-11D-1786-08		32824954	210374419	3	1160											
XIRP2	129446	broad.mit.edu	37	chr2	167992447	167992447	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aattgagcgaagtttgtgctCgccagcttttaagagtcacc	10	12	10	9	2	1	2	1	1	0	1	2	3	1	2	2	0	3	3	2	0	3	4			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr2:167992447C>T	ENST00000409195.1	+	3	526	c.437C>T	c.(436-438)tCg>tTg	p.S146L	XIRP2_ENST00000295237.9_Missense_Mutation_p.S146L|XIRP2_ENST00000420519.1_Missense_Mutation_p.S146L|XIRP2_ENST00000409756.2_Missense_Mutation_p.S146L|XIRP2_ENST00000409043.1_Missense_Mutation_p.S146L|XIRP2_ENST00000409728.1_Missense_Mutation_p.S146L|XIRP2-AS1_ENST00000525330.1_RNA	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization	cell junction	actin binding	p.S146L(2)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGTTTGTGCTCGCCAGCTTTT	0.423													28	45					0	0	0.030593	0	0	T	167992447	C	T	167992447	3	4	22	1	0	0	0	0	1	0	0	0	17490	893	31	1	443	1	XIRP2	2	167992447	Missense_Mutation	SNP	C	TCGA-CH-5767-01A-11D-1786-08	135167493	167992447	75206926	4	1161											
TTN	7273	broad.mit.edu	37	chr2	179404631	179404631	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtatggtaagtctgatgaCgccaccttgccttacaaaga	11	11	10	9	1	1	3	0	2	1	1	1	3	1	3	3	2	2	2	3	2	4	4			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr2:179404631C>T	ENST00000589042.1	-	352	98385	c.98161G>A	c.(98161-98163)Gtc>Atc	p.V32721I	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V31080I|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V23848I|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V23781I|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V23656I|TTN_ENST00000342992.6_Missense_Mutation_p.V30153I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31080							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.V23656I(2)|p.V30153I(1)|p.V30151I(1)|p.V23848I(1)|p.V23781I(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTCTGATGACGCCACCTTGC	0.398													24	55					0	0	0.099896	0	0	T	179404631	C	T	179404631	3	4	22	1	0	0	0	0	1	0	0	0	16797	536	19	1	9862	1	TTN	2	179404631	Missense_Mutation	SNP	C	TCGA-CH-5767-01A-11D-1786-08	11412184	179404631	63794742	5	1162											
TTN	7273	broad.mit.edu	37	chr2	179585679	179585679	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgctgtgctgcagctggcGtcaccaacaccattatgagc	10	8	10	13	2	1	1	1	1	0	0	1	1	1	1	2	1	6	4	2	1	3	1			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr2:179585679G>A	ENST00000589042.1	-	79	23291	c.23067C>T	c.(23065-23067)gaC>gaT	p.D7689D	TTN_ENST00000591111.1_Silent_p.D7372D|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.D6445D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7372	Ig-like 59.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.D6445D(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCAGCTGGCGTCACCAACAC	0.433													20	44					0	0	0.055883	0	0	A	179585679	G	A	179585679	2	1	22	1	0	0	0	0	0	0	0	1	16797	1136	40	1		1	TTN	2	179585679	Silent	SNP	G	TCGA-CH-5767-01A-11D-1786-08	181048	179585679	63613694	6	1163											
ZNF621	285268	broad.mit.edu	37	chr3	40573524	40573524	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtggtttctttggtcaggtgGtgagtcctggatcaaaaatg	8	14	14	5	0	3	1	2	1	1	0	4	2	4	2	1	5	0	1	1	5	2	2			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr3:40573524G>A	ENST00000339296.5	+	5	715	c.263G>A	c.(262-264)gGt>gAt	p.G88D	ZNF621_ENST00000403205.2_Missense_Mutation_p.G88D|ZNF621_ENST00000490457.1_Intron|ZNF621_ENST00000431278.1_5'UTR|ZNF621_ENST00000310898.1_Missense_Mutation_p.G88D	NM_198484.3	NP_940886.1	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	88					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G88D(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)		TGGTCAGGTGGTGAGTCCTGG	0.403													13	81					0	0	0.105934	0	0	A	40573524	G	A	40573524	3	1	22	1	0	0	0	0	1	0	0	0	18102	1261	44	2	277	2	ZNF621	3	40573524	Missense_Mutation	SNP	G	TCGA-CH-5767-01A-11D-1786-08		40573524	157448906	7	1164											
SEC61A1	29927	broad.mit.edu	37	chr3	127779441	127779441	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtatttctctcttcattgcaActaacatctgtgaaaccatc	11	15	4	11	0	4	1	1	1	3	0	6	1	4	1	1	0	4	2	1	0	4	5			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr3:127779441A>G	ENST00000243253.3	+	7	737	c.553A>G	c.(553-555)Act>Gct	p.T185A	SEC61A1_ENST00000464451.1_Missense_Mutation_p.T191A|SEC61A1_ENST00000424880.2_Missense_Mutation_p.T65A	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	185					protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding	p.T185A(1)		central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						CTTCATTGCAACTAACATCTG	0.478													29	45					0	0	0.037714	0	0	G	127779441	A	G	127779441	3	3	22	1	0	0	0	0	1	0	0	0	14054	43	2	3	579	3	SEC61A1	3	127779441	Missense_Mutation	SNP	A	TCGA-CH-5767-01A-11D-1786-08	87205917	127779441	70242989	8	1165											
PIK3R4	30849	broad.mit.edu	37	chr3	130435328	130435328	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccatttcgtttcttctgaCgcatgtgaagatgtctgaac	10	14	8	9	2	3	4	0	3	3	1	4	4	3	4	1	0	2	2	1	0	3	3			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr3:130435328C>T	ENST00000356763.3	-	9	2800	c.2243G>A	c.(2242-2244)cGt>cAt	p.R748H		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	748					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	p.R748H(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						TTTCTTCTGACGCATGTGAAG	0.443													5	101					0	0	0.014758	0	0	T	130435328	C	T	130435328	3	4	22	1	0	0	0	0	1	0	0	0	11969	536	19	1	1881	1	PIK3R4	3	130435328	Missense_Mutation	SNP	C	TCGA-CH-5767-01A-11D-1786-08	2655887	130435328	67587102	9	1166											
DRD5	0	broad.mit.edu	37	chr4	9783992	9783992	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggccctttggagcgttctgCgacgtctgggtggccttcga	3	12	15	11	4	2	0	0	0	2	0	3	3	2	1	2	4	2	1	2	4	0	3			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr4:9783992C>T	ENST00000304374.2	+	1	735	c.339C>T	c.(337-339)tgC>tgT	p.C113C		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	113					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		p.C113C(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	GAGCGTTCTGCGACGTCTGGG	0.627													25	28					0	0	0.076483	0	0	T	9783992	C	T	9783992	2	4	22	1	0	0	0	0	0	0	0	1	4786	776	27	1		1	DRD5	4	9783992	Silent	SNP	C	TCGA-CH-5767-01A-11D-1786-08		9783992	181370284	10	1167											
CHD1	1105	broad.mit.edu	37	chr5	98218811	98218811	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctgtttcttttgcccaattCgatgggctctagcctgtgcc	4	15	9	13	1	2	0	0	0	2	0	3	1	2	0	4	1	3	2	4	1	2	5			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr5:98218811C>T	ENST00000284049.3	-	18	2848	c.2699G>A	c.(2698-2700)cGa>cAa	p.R900Q		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	900	Helicase C-terminal.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	p.R900Q(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TTGCCCAATTCGATGGGCTCT	0.338													10	22					0	0	0.058154	0	0	T	98218811	C	T	98218811	3	4	22	1	0	0	0	0	1	0	0	0	3345	884	31	1	2505	1	CHD1	5	98218811	Missense_Mutation	SNP	C	TCGA-CH-5767-01A-11D-1786-08		98218811	82696449	11	1168											
YTHDC2	64848	broad.mit.edu	37	chr5	112876726	112876726	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagaaaatagtttcaagccTgaatctcagaggcagagaac	17	7	9	8	0	2	4	2	1	1	3	3	5	2	4	1	1	2	2	1	1	7	2			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr5:112876726T>C	ENST00000161863.4	+	9	1485	c.1272T>C	c.(1270-1272)ccT>ccC	p.P424P	YTHDC2_ENST00000515883.1_Silent_p.P424P	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	424							ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.P424P(1)		NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		GTTTCAAGCCTGAATCTCAGA	0.383													3	68					0	0	0.004672	0	0	C	112876726	T	C	112876726	2	2	22	1	0	0	0	0	0	0	0	1	17557	1567	55	3		3	YTHDC2	5	112876726	Silent	SNP	T	TCGA-CH-5767-01A-11D-1786-08	14657915	112876726	68038534	12	1169											
PCDHGA6	0	broad.mit.edu	37	chr5	140754115	140754115	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctctcgttttccactaatGgaggtctatgaccctgatgt	7	15	8	11	1	2	2	0	2	2	0	5	3	4	3	3	2	0	1	3	2	2	4			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr5:140754115G>A	ENST00000517434.1	+	1	465	c.465G>A	c.(463-465)atG>atA	p.M155I	PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1												p.M155I(1)		breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCCACTAATGGAGGTCTATG	0.448													3	49					0	0	0.004672	0	0	A	140754115	G	A	140754115	3	1	22	1	0	0	0	0	1	0	0	0	11605	1348	47	2	467	2	PCDHGA6	5	140754115	Missense_Mutation	SNP	G	TCGA-CH-5767-01A-11D-1786-08	27877389	140754115	40161145	13	1170											
MYLIP	29116	broad.mit.edu	37	chr6	16145318	16145318	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcgttgtggacctcgttTcaagaaacaaccagagccct	10	9	10	12	2	1	2	1	0	0	2	2	3	1	3	3	2	3	2	3	2	3	2			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr6:16145318T>C	ENST00000349606.4	+	5	979	c.475T>C	c.(475-477)Tca>Cca	p.S159P	MYLIP_ENST00000356840.3_Missense_Mutation_p.S340P			Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	340	FERM.				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.S340P(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			GGACCTCGTTTCAAGAAACAA	0.517													10	123					0	0	0.069234	0	0	C	16145318	T	C	16145318	3	2	22	1	0	0	0	0	1	0	0	0	10103	1783	62	3	1040	3	MYLIP	6	16145318	Missense_Mutation	SNP	T	TCGA-CH-5767-01A-11D-1786-08		16145318	154969749	14	1171											
BTBD9	114781	broad.mit.edu	37	chr6	38548004	38548004	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatcacttaccggctatctcGgtcccacaagagtatccgta	11	10	7	13	3	2	1	1	0	1	1	5	1	4	1	3	2	1	3	3	2	6	4			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr6:38548004G>A	ENST00000481247.1	-	5	1175	c.1024C>T	c.(1024-1026)Cga>Tga	p.R342*	BTBD9_ENST00000403056.1_Nonsense_Mutation_p.R342*|BTBD9_ENST00000419706.2_Nonsense_Mutation_p.R283*|BTBD9_ENST00000314100.6_Nonsense_Mutation_p.R274*|BTBD9_ENST00000408958.1_Nonsense_Mutation_p.R274*	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9	342					cell adhesion			p.R274*(2)|p.R342*(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						CGGCTATCTCGGTCCCACAAG	0.413													4	38					0	0	0.009096	0	0	A	38548004	G	A	38548004	4	1	22	1	0	0	0	0	0	1	0	0	1551	1124	39	1	933	1	BTBD9	6	38548004	Nonsense_Mutation	SNP	G	TCGA-CH-5767-01A-11D-1786-08	22402686	38548004	132567063	15	1172											
MOCS1	4337	broad.mit.edu	37	chr6	39880665	39880665	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctggattcctcctctggcaCcttctccagctctggccact	4	12	8	17	0	3	0	0	0	3	0	6	1	5	1	5	3	1	3	5	3	0	2			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr6:39880665C>A	ENST00000373186.4	-	6	978	c.841G>T	c.(841-843)Gtg>Ttg	p.V281L	MOCS1_ENST00000308559.7_Missense_Mutation_p.V281L|MOCS1_ENST00000373188.2_Missense_Mutation_p.V281L|MOCS1_ENST00000425303.2_Missense_Mutation_p.V281L|MOCS1_ENST00000373175.4_Missense_Mutation_p.V252L|MOCS1_ENST00000373195.3_Missense_Mutation_p.V194L|MOCS1_ENST00000432280.2_Missense_Mutation_p.V252L|MOCS1_ENST00000340692.5_Missense_Mutation_p.V281L	NM_005943.5	NP_005934.2	Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	281	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding	p.V281L(2)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					TCCTCTGGCACCTTCTCCAGC	0.577													136	185					3.42316e-88	4.29451e-88	0.048971	1	0	A	39880665	C	A	39880665	3	1	22	1	0	0	0	0	1	0	0	0	9739	507	18	4	332	4	MOCS1	6	39880665	Missense_Mutation	SNP	C	TCGA-CH-5767-01A-11D-1786-08	1332661	39880665	131234402	16	1173											
CCNC	892	broad.mit.edu	37	chr6	100009259	100009259	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacctctactttggatgccAaaaacacacatgtaggagcc	14	9	7	11	0	1	0	0	0	1	0	1	2	1	2	3	2	5	1	3	2	5	4			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr6:100009259A>C	ENST00000520429.1	-	4	723	c.278T>G	c.(277-279)tTg>tGg	p.L93W	CCNC_ENST00000369220.4_Missense_Mutation_p.L93W|CCNC_ENST00000523985.1_Missense_Mutation_p.L8W|CCNC_ENST00000482541.2_Missense_Mutation_p.L93W|CCNC_ENST00000520371.1_Missense_Mutation_p.L93W|CCNC_ENST00000518714.1_Missense_Mutation_p.L93W|CCNC_ENST00000521017.1_5'UTR|CCNC_ENST00000523799.1_Missense_Mutation_p.L8W	NM_001013399.1|NM_005190.3	NP_001013417.1|NP_005181.2	P24863	CCNC_HUMAN	cyclin C	93	Cyclin N-terminal.				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	DNA-directed RNA polymerase II, holoenzyme	protein kinase binding	p.L93W(1)					all_cancers(76;8.46e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.064)		TTTGGATGCCAAAAACACACA	0.323													4	75					0	0	0.021553	0	0	C	100009259	A	C	100009259	3	2	22	1	0	0	0	0	1	0	0	0	2937	131	5	5	609	5	CCNC	6	100009259	Missense_Mutation	SNP	A	TCGA-CH-5767-01A-11D-1786-08	60128594	100009259	71105808	17	1174											
EIF4H	7458	broad.mit.edu	37	chr7	73604629	73604629	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgggattcccgggatgacttCaattctggtatcagtattta	9	15	10	7	1	3	1	2	1	1	0	4	3	4	3	1	3	0	2	1	3	4	7			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr7:73604629C>T	ENST00000265753.8	+	5	601	c.462C>T	c.(460-462)ttC>ttT	p.F154F	EIF4H_ENST00000353999.6_Intron|EIF4H_ENST00000495187.1_3'UTR	NM_022170.1	NP_071496.1	Q15056	IF4H_HUMAN	eukaryotic translation initiation factor 4H	154	HHV-1 Vhs binding site.				interspecies interaction between organisms|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity	p.F154F(1)		endometrium(1)|lung(2)|prostate(1)	4						GGGATGACTTCAATTCTGGTA	0.453													14	26					0	0	0.038395	0	0	T	73604629	C	T	73604629	2	4	22	1	0	0	0	0	0	0	0	1	5067	825	29	2		2	EIF4H	7	73604629	Silent	SNP	C	TCGA-CH-5767-01A-11D-1786-08		73604629	85534034	18	1175											
ZC3HC1	51530	broad.mit.edu	37	chr7	129664155	129664155	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctccgggtcatcatcctcCgaggagattcaggcaccaga	9	7	12	13	2	3	2	3	0	0	2	6	4	6	2	4	4	0	2	4	4	0	1			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr7:129664155C>A	ENST00000358303.4	-	7	1052	c.968G>T	c.(967-969)cGg>cTg	p.R323L	RP11-306G20.1_ENST00000480018.1_RNA|ZC3HC1_ENST00000360708.5_Missense_Mutation_p.R323L|RP11-306G20.1_ENST00000587038.1_RNA|ZC3HC1_ENST00000311873.5_Missense_Mutation_p.R302L|ZC3HC1_ENST00000481503.1_Missense_Mutation_p.R280L	NM_016478.3	NP_057562.3	Q86WB0	NIPA_HUMAN	zinc finger, C3HC-type containing 1	323					cell division|mitosis	nucleus	protein kinase binding|zinc ion binding			endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					CATCATCCTCCGAGGAGATTC	0.547													3	93					0.004672	0.00528472	0.004672	1	0	A	129664155	C	A	129664155	3	1	22	1	0	0	0	0	1	0	0	0	17636	652	23	4	556	4	ZC3HC1	7	129664155	Missense_Mutation	SNP	C	TCGA-CH-5767-01A-11D-1786-08	56059526	129664155	29474508	19	1176											
NKX3-1	4824	broad.mit.edu	37	chr8	23539041	23539041	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaactcgatcacctgagtgTgggagaaggcagctcgggag	10	6	15	10	2	1	2	1	1	0	1	3	5	1	3	2	3	2	2	2	3	2	0			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr8:23539041T>G	ENST00000380871.4	-	2	435	c.398A>C	c.(397-399)cAc>cCc	p.H133P	NKX3-1_ENST00000523261.1_Missense_Mutation_p.H58P	NM_006167.3	NP_006158.2	Q99801	NKX31_HUMAN	NK3 homeobox 1	133					negative regulation of estrogen receptor binding|negative regulation of transcription, DNA-dependent|positive regulation of cell division|positive regulation of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter	nucleus	estrogen receptor activity|estrogen receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region sequence-specific DNA binding	p.H133P(1)		large_intestine(3)|lung(4)|prostate(5)|skin(2)	14		Prostate(55;0.114)		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)		CACCTGAGTGTGGGAGAAGGC	0.587													90	33					0	0	0.048971	0	0	G	23539041	T	G	23539041	3	3	22	1	0	0	0	0	1	0	0	0	10502	1696	59	5	310	5	NKX3-1	8	23539041	Missense_Mutation	SNP	T	TCGA-CH-5767-01A-11D-1786-08		23539041	122824981	20	1177											
MRPL15	29088	broad.mit.edu	37	chr8	55049839	55049839	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttttacagtttcagacgccAgtataagcctttgagtctca	10	14	8	9	1	2	2	2	1	1	1	3	2	2	2	2	0	2	3	2	0	3	6			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr8:55049839A>C	ENST00000260102.4	+	3	349	c.275A>C	c.(274-276)cAg>cCg	p.Q92P		NM_014175.3	NP_054894.1	Q9P015	RM15_HUMAN	mitochondrial ribosomal protein L15	92					translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome	p.Q92P(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)			TTCAGACGCCAGTATAAGCCT	0.398													55	39					0	0	0.048971	0	0	C	55049839	A	C	55049839	3	2	22	1	0	0	0	0	1	0	0	0	9829	188	7	5	285	5	MRPL15	8	55049839	Missense_Mutation	SNP	A	TCGA-CH-5767-01A-11D-1786-08	31510798	55049839	91314183	21	1178											
CSMD3	114788	broad.mit.edu	37	chr8	113308235	113308235	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggaattccacaatgacccGctgaaatacgttataaagta	15	10	7	9	2	0	2	0	2	0	0	1	3	1	3	2	1	1	3	2	1	8	5			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr8:113308235G>A	ENST00000297405.5	-	54	8685	c.8440_splice	c.e54-1	p.A2814_splice	CSMD3_ENST00000455883.2_Splice_Site_p.A2645_splice|CSMD3_ENST00000352409.3_Splice_Site_p.A2744_splice|CSMD3_ENST00000343508.3_Splice_Site_p.A2774_splice	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2814	Sushi 17.					integral to membrane|plasma membrane		p.A2814V(1)|p.A2814E(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACAATGACCCGCTGAAATACG	0.299										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			27	28					0	0	0.099896	0	0	A	113308235	G	A	113308235	5	1	22	1	0	0	0	0	0	0	1	0	3971	1101	38	1	2754	1	CSMD3	8	113308235	Splice_Site	SNP	G	TCGA-CH-5767-01A-11D-1786-08	58258396	113308235	33055787	22	1179											
TJP2	9414	broad.mit.edu	37	chr9	71844114	71844114	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctacagctcctcaaccaaaaGcagccccgagaacttttctt	12	9	5	15	1	2	1	1	0	1	1	3	2	3	1	4	0	6	2	4	0	5	4			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr9:71844114G>C	ENST00000377245.4	+	10	1676	c.1468G>C	c.(1468-1470)Gca>Cca	p.A490P	TJP2_ENST00000539225.1_Missense_Mutation_p.A521P|TJP2_ENST00000453658.2_Missense_Mutation_p.A467P|TJP2_ENST00000535702.1_Missense_Mutation_p.A494P|TJP2_ENST00000348208.4_Missense_Mutation_p.A490P|TJP2_ENST00000265384.7_Missense_Mutation_p.A490P	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	490					cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding	p.A490P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						TCAACCAAAAGCAGCCCCGAG	0.388													7	141					0	0	0.02938	0	0	C	71844114	G	C	71844114	3	2	22	1	0	0	0	0	1	0	0	0	15990	971	34	4	1663	4	TJP2	9	71844114	Missense_Mutation	SNP	G	TCGA-CH-5767-01A-11D-1786-08		71844114	69369317	23	1180											
SCAI	286205	broad.mit.edu	37	chr9	127765792	127765792	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggaagctaaattcattggctCcctttccagagcttgtaaca	11	12	8	10	0	1	1	1	0	0	1	3	2	3	2	2	2	3	4	2	2	4	6			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr9:127765792C>G	ENST00000336505.5	-	10	977	c.919G>C	c.(919-921)Gag>Cag	p.E307Q	SCAI_ENST00000487795.1_5'UTR|SCAI_ENST00000373549.4_Missense_Mutation_p.E330Q	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion	307					negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity	p.E330Q(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						TTCATTGGCTCCCTTTCCAGA	0.413													20	56					0	0	0.062417	0	0	G	127765792	C	G	127765792	3	3	22	1	0	0	0	0	1	0	0	0	13922	864	30	4	937	4	SCAI	9	127765792	Missense_Mutation	SNP	C	TCGA-CH-5767-01A-11D-1786-08	55921678	127765792	13447639	24	1181											
ITIH2	3698	broad.mit.edu	37	chr10	7780658	7780658	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccttcaccaacgcccgtgAtctccatgctggcacaagga	10	8	8	15	2	2	1	1	1	1	0	4	2	3	2	4	2	2	2	4	2	2	1			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr10:7780658A>G	ENST00000358415.4	+	16	2198	c.2032A>G	c.(2032-2034)Atc>Gtc	p.I678V	ITIH2_ENST00000379587.4_Missense_Mutation_p.I667V	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	678					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.I678V(1)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						AACGCCCGTGATCTCCATGCT	0.552													9	75					0	0	0.047766	0	0	G	7780658	A	G	7780658	3	3	22	1	0	0	0	0	1	0	0	0	7948	333	12	3	2094	3	ITIH2	10	7780658	Missense_Mutation	SNP	A	TCGA-CH-5767-01A-11D-1786-08		7780658	127754089	25	1182											
ARHGAP21	57584	broad.mit.edu	37	chr10	24884077	24884077	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgttttcagacgatctagaGgatcttctttacgattggct	9	16	9	7	2	4	2	1	0	3	2	4	5	4	3	0	2	1	2	0	2	2	7			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr10:24884077G>C	ENST00000396432.2	-	20	4241	c.3755C>G	c.(3754-3756)cCt>cGt	p.P1252R	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.P1039R	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1251	Rho-GAP.				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	p.P1251R(1)|p.P1251fs*2(1)|p.P1252R(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						ACGATCTAGAGGATCTTCTTT	0.299													4	25					0	0	0.014758	0	0	C	24884077	G	C	24884077	3	2	22	1	0	0	0	0	1	0	0	0	868	1000	35	4	2149	4	ARHGAP21	10	24884077	Missense_Mutation	SNP	G	TCGA-CH-5767-01A-11D-1786-08	17103419	24884077	110650670	26	1183											
OPALIN	93377	broad.mit.edu	37	chr10	98113209	98113209	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcaggatgacctaccatccGcattgtccagagagctgccc	9	7	11	14	1	0	2	0	1	0	1	2	4	2	3	5	2	3	3	5	2	1	2			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr10:98113209G>A	ENST00000419479.1	-	3	511	c.4C>T	c.(4-6)Cgg>Tgg	p.R2W	OPALIN_ENST00000536387.1_Missense_Mutation_p.R2W|OPALIN_ENST00000371172.3_Intron|OPALIN_ENST00000393871.1_Intron|OPALIN_ENST00000393870.2_Intron	NM_001040103.1	NP_001035192.1	Q96PE5	OPALI_HUMAN	oligodendrocytic myelin paranodal and inner loop protein	0						Golgi apparatus|integral to membrane|plasma membrane		p.R2W(1)		breast(1)|large_intestine(1)|lung(5)|prostate(2)	9						cctaccatccgcattgtccag	0.522													4	143					0	0	0.014758	0	0	A	98113209	G	A	98113209	3	1	22	1	0	0	0	0	1	0	0	0	10921	1086	38	1	411	1	OPALIN	10	98113209	Missense_Mutation	SNP	G	TCGA-CH-5767-01A-11D-1786-08	73229132	98113209	37421538	27	1184											
TPH1	7166	broad.mit.edu	37	chr11	18062244	18062244	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaacttcattctttaaggaAaaaatgagacttgctcttcc	13	13	5	10	0	3	1	1	1	2	1	4	3	4	2	2	1	2	1	2	1	5	6			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr11:18062244A>C	ENST00000250018.2	-	1	628	c.66T>G	c.(64-66)ttT>ttG	p.F22L	TPH1_ENST00000341556.2_Missense_Mutation_p.F22L	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	22	ACT.				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	p.F22L(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	TCTTTAAGGAAAAAATGAGAC	0.328													5	38					0	0	0.021553	0	0	C	18062244	A	C	18062244	3	2	22	1	0	0	0	0	1	0	0	0	16462	11	1	5	1308	5	TPH1	11	18062244	Missense_Mutation	SNP	A	TCGA-CH-5767-01A-11D-1786-08		18062244	116944272	28	1185											
SLC6A5	9152	broad.mit.edu	37	chr11	20622883	20622883	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcggacgcgcgagcctgcgAggctgagcggccaggagtgg	7	3	20	11	6	0	1	0	1	0	0	0	5	0	3	2	5	4	1	2	5	0	0			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr11:20622883A>G	ENST00000525748.1	+	2	485	c.212A>G	c.(211-213)gAg>gGg	p.E71G		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	71					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	p.E71G(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	CGAGCCTGCGAGGCTGAGCGG	0.721													6	6					0	0	0.02938	0	0	G	20622883	A	G	20622883	3	3	22	1	0	0	0	0	1	0	0	0	14742	304	11	3	218	3	SLC6A5	11	20622883	Missense_Mutation	SNP	A	TCGA-CH-5767-01A-11D-1786-08	2560639	20622883	114383633	29	1186											
SLC6A5	9152	broad.mit.edu	37	chr11	20628637	20628637	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggtgtcgctgggccagtttgCcagccagggaccagtgtctg	5	9	16	11	1	1	0	0	0	1	0	2	1	1	1	4	3	2	2	4	3	0	1			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr11:20628637C>T	ENST00000525748.1	+	4	1037	c.764C>T	c.(763-765)gCc>gTc	p.A255V		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	255					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	p.A255V(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	GGCCAGTTTGCCAGCCAGGGA	0.572													3	42					0	0	0.004672	0	0	T	20628637	C	T	20628637	3	4	22	1	0	0	0	0	1	0	0	0	14742	739	26	2	778	2	SLC6A5	11	20628637	Missense_Mutation	SNP	C	TCGA-CH-5767-01A-11D-1786-08	5754	20628637	114377879	30	1187											
CD82	3732	broad.mit.edu	37	chr11	44626916	44626916	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgtccccagtactttgctttCctgctcctgatcctcattgc	4	16	6	15	0	1	1	1	1	0	0	5	1	5	1	5	0	4	3	5	0	1	4			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr11:44626916C>T	ENST00000227155.4	+	6	521	c.273C>T	c.(271-273)ttC>ttT	p.F91F	CD82_ENST00000342935.3_Intron|CD82_ENST00000530931.1_3'UTR	NM_002231.3	NP_002222.1	P27701	CD82_HUMAN	CD82 molecule	91						integral to plasma membrane	protein binding	p.F91F(1)		large_intestine(1)|ovary(1)	2						ACTTTGCTTTCCTGCTCCTGA	0.617													27	32					0	0	0.041601	0	0	T	44626916	C	T	44626916	2	4	22	1	0	0	0	0	0	0	0	1	3062	854	30	2		2	CD82	11	44626916	Silent	SNP	C	TCGA-CH-5767-01A-11D-1786-08	23998279	44626916	90379600	31	1188											
ADAMTS15	170689	broad.mit.edu	37	chr11	130343148	130343148	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgctgcggtacagcggcaCgggcacagcggtggagagcc	7	5	17	12	4	1	1	0	0	1	1	1	2	1	1	1	5	6	4	1	5	1	1			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr11:130343148C>T	ENST00000299164.2	+	8	2285	c.2285C>T	c.(2284-2286)aCg>aTg	p.T762M		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	762	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.T762M(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		TACAGCGGCACGGGCACAGCG	0.672													4	90					0	0	0.009096	0	0	T	130343148	C	T	130343148	3	4	22	1	0	0	0	0	1	0	0	0	259	536	19	1	2315	1	ADAMTS15	11	130343148	Missense_Mutation	SNP	C	TCGA-CH-5767-01A-11D-1786-08	85716232	130343148	4663368	32	1189											
PFDN5	5204	broad.mit.edu	37	chr12	53689395	53689395	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggagctgaatctgccgcagcTagaaatgctcaagaaccagc	13	6	11	11	1	2	3	1	1	1	2	2	4	2	4	2	1	6	4	2	1	5	1			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr12:53689395T>C	ENST00000551018.1	+	1	321	c.44T>C	c.(43-45)cTa>cCa	p.L15P	PFDN5_ENST00000550846.1_Missense_Mutation_p.L15P|PFDN5_ENST00000351500.3_Missense_Mutation_p.L15P|PFDN5_ENST00000334478.4_Missense_Mutation_p.L15P	NM_002624.3	NP_002615.2	Q99471	PFD5_HUMAN	prefoldin subunit 5	15					'de novo' posttranslational protein folding|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent	nucleus|prefoldin complex	transcription corepressor activity|unfolded protein binding	p.L15P(1)		kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)	8						CTGCCGCAGCTAGAAATGCTC	0.592													3	93					0	0	0.004672	0	0	C	53689395	T	C	53689395	3	2	22	1	0	0	0	0	1	0	0	0	11806	1522	53	3	46	3	PFDN5	12	53689395	Missense_Mutation	SNP	T	TCGA-CH-5767-01A-11D-1786-08		53689395	80162500	33	1190											
TBX3	6926	broad.mit.edu	37	chr12	115110035	115110035	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggaggctgccgcagaggAggcggccgccgctgcggcca	5	3	19	14	5	0	1	0	0	0	1	0	3	0	3	4	6	2	4	4	6	0	0			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr12:115110035A>C	ENST00000349155.2	-	7	2746	c.1783T>G	c.(1783-1785)Tcc>Gcc	p.S595A	TBX3_ENST00000257566.3_Missense_Mutation_p.S615A	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN	T-box 3	615	Transcription repression.				anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding	p.S615A(1)		breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		GCCGCAGAGGAGGCGGCCGCC	0.662													3	7					0	0	0.004672	0	0	C	115110035	A	C	115110035	3	2	22	1	0	0	0	0	1	0	0	0	15719	304	11	5	392	5	TBX3	12	115110035	Missense_Mutation	SNP	A	TCGA-CH-5767-01A-11D-1786-08	61420640	115110035	18741860	34	1191											
LHFP	10186	broad.mit.edu	37	chr13	40175053	40175053	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaacccatgagggcagtgaGcgccaccaggaggaggaggc	11	2	17	11	1	0	2	0	2	0	0	0	5	0	5	3	5	2	2	3	5	1	0			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr13:40175053G>A	ENST00000379589.3	-	2	763	c.301C>T	c.(301-303)Ctc>Ttc	p.L101F		NM_005780.2	NP_005771.1	Q9Y693	LHFP_HUMAN	lipoma HMGIC fusion partner	101						integral to membrane	DNA binding	p.L101F(1)	HMGA2/LHFP(2)	breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)		AGGGCAGTGAGCGCCACCAGG	0.587			T	HMGA2	lipoma								12	136					0	0	0.09319	0	0	A	40175053	G	A	40175053	3	1	22	1	0	0	0	0	1	0	0	0	8803	971	34	2	313	2	LHFP	13	40175053	Missense_Mutation	SNP	G	TCGA-CH-5767-01A-11D-1786-08		40175053	74994825	35	1192											
DGKH	160851	broad.mit.edu	37	chr13	42761271	42761271	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaatgccgttgtagctgatgCcgtggccagtaaagtaagag	12	9	13	7	2	0	2	0	1	0	1	0	2	0	2	3	1	3	5	3	1	5	4			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr13:42761271C>T	ENST00000379274.2	+	14	1646	c.1217C>T	c.(1216-1218)gCc>gTc	p.A406V	DGKH_ENST00000337343.4_Missense_Mutation_p.A542V|DGKH_ENST00000261491.4_Missense_Mutation_p.A542V|DGKH_ENST00000540693.1_Missense_Mutation_p.A542V|DGKH_ENST00000538674.1_Missense_Mutation_p.A297V|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000536612.1_Missense_Mutation_p.A406V			Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	542	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	p.A542V(1)		breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		GTAGCTGATGCCGTGGCCAGT	0.423													4	170					0	0	0.014758	0	0	T	42761271	C	T	42761271	3	4	22	1	0	0	0	0	1	0	0	0	4498	739	26	2	1679	2	DGKH	13	42761271	Missense_Mutation	SNP	C	TCGA-CH-5767-01A-11D-1786-08	2586218	42761271	72408607	36	1193											
BBS4	585	broad.mit.edu	37	chr15	73015166	73015166	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taacctaggagtttgctacaTatacctgaagcagttcaaca	14	11	7	9	0	1	1	1	1	0	0	1	2	1	2	2	1	6	4	2	1	7	7			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr15:73015166T>A	ENST00000268057.4	+	7	478	c.437T>A	c.(436-438)aTa>aAa	p.I146K	BBS4_ENST00000539603.1_Missense_Mutation_p.I134K|BBS4_ENST00000542334.1_5'UTR|BBS4_ENST00000395205.2_Missense_Mutation_p.I154K|BBS4_ENST00000564239.1_3'UTR	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	146	Interaction with PCM1.				adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity	p.I146K(1)		autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						GTTTGCTACATATACCTGAAG	0.373									Bardet-Biedl syndrome				18	46					0	0	0.049695	0	0	A	73015166	T	A	73015166	3	1	22	1	0	0	0	0	1	0	0	0	1337	1406	49	5	463	5	BBS4	15	73015166	Missense_Mutation	SNP	T	TCGA-CH-5767-01A-11D-1786-08		73015166	29516226	37	1194											
TAOK2	9344	broad.mit.edu	37	chr16	29996717	29996717	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggcgcagcgggctggctttGgggcagaggcagaaaagctg	9	5	19	8	2	0	2	0	0	0	2	0	2	0	2	0	6	2	6	0	6	2	1			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr16:29996717G>T	ENST00000308893.4	+	14	2649	c.1606G>T	c.(1606-1608)Ggg>Tgg	p.G536W	TAOK2_ENST00000279394.3_Missense_Mutation_p.G536W|TAOK2_ENST00000543033.1_Missense_Mutation_p.G536W|TAOK2_ENST00000416441.2_Missense_Mutation_p.G363W	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	536					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	p.G536W(3)		breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GGCTGGCTTTGGGGCAGAGGC	0.672													8	10					0.00307968	0.00354163	0.038147	1	0	T	29996717	G	T	29996717	3	4	22	1	0	0	0	0	1	0	0	0	15605	1348	47	4	1656	4	TAOK2	16	29996717	Missense_Mutation	SNP	G	TCGA-CH-5767-01A-11D-1786-08		29996717	60358036	38	1195											
FUK	197258	broad.mit.edu	37	chr16	70508758	70508758	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgctgggcctggctgtgCgagtggacggccgccggccc	2	7	18	14	4	0	0	0	0	0	0	0	2	0	1	4	5	2	2	4	5	0	0			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr16:70508758C>T	ENST00000288078.6	+	18	2453	c.2221C>T	c.(2221-2223)Cga>Tga	p.R741*	FUK_ENST00000571514.1_Nonsense_Mutation_p.R232*|FUK_ENST00000378912.2_Nonsense_Mutation_p.R773*	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	741						cytoplasm	ATP binding|fucokinase activity	p.R741*(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				CCTGGCTGTGCGAGTGGACGG	0.677													4	13					0	0	0.014758	0	0	T	70508758	C	T	70508758	4	4	22	1	0	0	0	0	0	1	0	0	6131	760	27	1	2287	1	FUK	16	70508758	Nonsense_Mutation	SNP	C	TCGA-CH-5767-01A-11D-1786-08	40512041	70508758	19845995	39	1196											
IL34	146433	broad.mit.edu	37	chr16	70693984	70693984	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagccctcattgcagtatgCggccacccagctgtaccctc	8	8	9	16	1	1	1	1	0	0	1	2	1	1	1	4	1	5	4	4	1	2	3			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr16:70693984C>T	ENST00000429149.2	+	7	1178	c.623C>T	c.(622-624)gCg>gTg	p.A208V	IL34_ENST00000288098.2_Missense_Mutation_p.A208V|IL34_ENST00000566361.1_Missense_Mutation_p.A183V	NM_001172771.1|NM_152456.2	NP_001166242.1|NP_689669.2	Q6ZMJ4	IL34_HUMAN	interleukin 34	208					positive regulation of cell proliferation|positive regulation of protein phosphorylation	extracellular space	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding	p.A208V(1)		breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						TTGCAGTATGCGGCCACCCAG	0.647													4	149					0	0	0.009096	0	0	T	70693984	C	T	70693984	3	4	22	1	0	0	0	0	1	0	0	0	7738	768	27	1	645	1	IL34	16	70693984	Missense_Mutation	SNP	C	TCGA-CH-5767-01A-11D-1786-08	185226	70693984	19660769	40	1197											
MED1	5469	broad.mit.edu	37	chr17	37566711	37566711	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtcctccccatggcccaccGactcatgccgatctttgatg	7	10	8	16	2	2	1	1	1	1	0	4	3	4	1	6	1	1	0	6	1	0	1			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr17:37566711G>A	ENST00000300651.6	-	17	1986	c.1763C>T	c.(1762-1764)tCg>tTg	p.S588L	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	588	Interaction with ESR1.|Interaction with THRA.|Interaction with VDR.|Interaction with the Mediator complex and THRA.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.S588L(1)		NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		ATGGCCCACCGACTCATGCCG	0.512										HNSCC(31;0.082)			33	82					0	0	0.080422	0	0	A	37566711	G	A	37566711	3	1	22	1	0	0	0	0	1	0	0	0	9475	1059	37	1	2986	1	MED1	17	37566711	Missense_Mutation	SNP	G	TCGA-CH-5767-01A-11D-1786-08		37566711	43628499	41	1198											
BZRAP1	9256	broad.mit.edu	37	chr17	56385061	56385061	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggggtcatagtcaaacagagCcacaaagatcctgacgggta	14	6	12	9	1	2	3	2	1	0	2	3	3	3	3	2	3	2	1	2	3	4	2			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr17:56385061C>A	ENST00000355701.3	-	24	5764	c.4894G>T	c.(4894-4896)Gct>Tct	p.A1632S	BZRAP1_ENST00000268893.6_Missense_Mutation_p.A1572S|BZRAP1_ENST00000343736.4_Missense_Mutation_p.A1632S	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1632	SH3 2.					mitochondrion	benzodiazepine receptor binding	p.A1632S(3)		cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCAAACAGAGCCACAAAGATC	0.567													7	64					1.06961e-07	1.29479e-07	0.038147	1	0	A	56385061	C	A	56385061	3	1	22	1	0	0	0	0	1	0	0	0	1580	739	26	4	711	4	BZRAP1	17	56385061	Missense_Mutation	SNP	C	TCGA-CH-5767-01A-11D-1786-08	18818350	56385061	24810149	42	1199											
CSH1	1442	broad.mit.edu	37	chr17	61972640	61972640	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcactgttccctccctctctCatttatccattttcctccct	4	17	2	18	0	2	0	1	0	1	0	8	0	7	0	5	0	0	2	5	0	1	5			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr17:61972640C>T	ENST00000329882.8	-	4	719	c.649G>A	c.(649-651)Gag>Aag	p.E217K	CSH1_ENST00000453363.3_Intron|CSH1_ENST00000316193.8_Intron			P01243	CSH_HUMAN	chorionic somatomammotropin hormone 1 (placental lactogen)	0					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			central_nervous_system(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						CTCCCTCTCTCATTTATCCAT	0.557									Russell-Silver syndrome				47	57					0	0	0.048971	0	0	T	61972640	C	T	61972640	3	4	22	1	0	0	0	0	1	0	0	0	3965	835	29	2	261	2	CSH1	17	61972640	Missense_Mutation	SNP	C	TCGA-CH-5767-01A-11D-1786-08	5587579	61972640	19222570	43	1200											
SIRT7	51547	broad.mit.edu	37	chr17	79873382	79873382	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctcggcctcgctcaggtcGgcagcactgccaggcagaaa	8	5	14	14	3	1	1	1	0	0	1	4	1	1	1	2	5	2	5	2	5	1	0	rs146448282	byFrequency	TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr17:79873382G>A	ENST00000328666.6	-	5	476	c.414C>T	c.(412-414)gcC>gcT	p.A138A		NM_016538.2	NP_057622.1	Q9NRC8	SIRT7_HUMAN	sirtuin 7	138	Deacetylase sirtuin-type.				chromatin silencing|positive regulation of transcription on exit from mitosis|protein deacetylation|rRNA transcription	cytoplasm|nucleolus organizer region	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ binding|protein binding|zinc ion binding	p.A138A(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CGCTCAGGTCGGCAGCACTGC	0.652													3	28					0	0	0.004672	0	0	A	79873382	G	A	79873382	2	1	22	1	0	0	0	0	0	0	0	1	14398	1103	39	1		1	SIRT7	17	79873382	Silent	SNP	G	TCGA-CH-5767-01A-11D-1786-08	17900742	79873382	1321828	44	1201											
PIP5K1C	23396	broad.mit.edu	37	chr19	3651957	3651957	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcgccctgcgcctgccgctCgcgctcgtgctggtcgatgt	1	9	15	16	7	0	0	0	0	0	0	3	1	0	0	3	2	3	3	3	2	0	0			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr19:3651957C>T	ENST00000335312.3	-	8	1082	c.994G>A	c.(994-996)Gag>Aag	p.E332K	PIP5K1C_ENST00000589578.1_Missense_Mutation_p.E332K|PIP5K1C_ENST00000539785.1_Missense_Mutation_p.E332K|PIP5K1C_ENST00000537021.1_Missense_Mutation_p.E332K|PIP5K1C_ENST00000587482.1_5'UTR	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	332	PIPK.				axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding	p.E332K(1)		large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		GCCTGCCGCTCGCGCTCGTGC	0.652													15	37					0	0	0.038395	0	0	T	3651957	C	T	3651957	3	4	22	1	0	0	0	0	1	0	0	0	11989	893	31	1	1056	1	PIP5K1C	19	3651957	Missense_Mutation	SNP	C	TCGA-CH-5767-01A-11D-1786-08		3651957	55477026	45	1202											
UHRF1	29128	broad.mit.edu	37	chr19	4950688	4950688	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccgaggccaaggactggcGgtcggggaagccggtcaggg	7	3	21	10	4	1	0	1	0	0	0	2	3	1	2	3	9	1	0	3	9	2	0			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr19:4950688G>A	ENST00000592666.1	+	0	2159							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R541Q(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		AAGGACTGGCGGTCGGGGAAG	0.607													22	30					0	0	0.062417	0	0	A	4950688	G	A	4950688	1	1	22	0	1	0	0	0	0	0	0	0	17027	1116	39	1		1	UHRF1	19	4950688	RNA	SNP	G	TCGA-CH-5767-01A-11D-1786-08	1298731	4950688	54178295	46	1203											
MAP2K7	5609	broad.mit.edu	37	chr19	7975046	7975046	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	actgtggcggggagagggagGaggcccagccaggctggacc	8	3	20	10	1	0	1	0	0	0	1	0	5	0	4	3	8	1	1	3	8	0	0			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr19:7975046G>A	ENST00000545011.1	+	3	430	c.365G>A	c.(364-366)gGa>gAa	p.G122E	MAP2K7_ENST00000397979.3_Intron|MAP2K7_ENST00000397983.3_Intron|MAP2K7_ENST00000397981.3_Intron			O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	111	Protein kinase.				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19					Etoposide(DB00773)	GGAGAGGGAGGAGGCCCAGCC	0.672													5	4					0	0	0.021553	0	0	A	7975046	G	A	7975046	3	1	22	1	0	0	0	0	1	0	0	0	9292	1189	41	2		2	MAP2K7	19	7975046	Missense_Mutation	SNP	G	TCGA-CH-5767-01A-11D-1786-08	3024358	7975046	51153937	47	1204											
HNRNPL	3191	broad.mit.edu	37	chr19	39334540	39334540	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgatcattcttgaacacAttcaagcgtgtaggctgcaa	11	12	8	10	1	3	2	2	2	1	0	4	2	4	2	1	1	3	3	1	1	4	4			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr19:39334540A>G	ENST00000221419.5	-	6	1188	c.822T>C	c.(820-822)aaT>aaC	p.N274N	HNRNPL_ENST00000600873.1_Silent_p.N141N	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	274					nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding	p.N274N(1)|p.N141N(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			TCTTGAACACATTCAAGCGTG	0.507													31	60					0	0	0.045705	0	0	G	39334540	A	G	39334540	2	3	22	1	0	0	0	0	0	0	0	1	7311	214	8	3		3	HNRNPL	19	39334540	Silent	SNP	A	TCGA-CH-5767-01A-11D-1786-08	31359494	39334540	19794443	48	1205											
PSG2	5670	broad.mit.edu	37	chr19	43585093	43585093	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatcacctcgctttatgaTgtgtaaggtgtaggatcctg	8	13	10	10	1	1	1	1	1	0	0	3	2	2	2	3	2	0	3	3	2	3	4			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr19:43585093T>C	ENST00000406487.1	-	2	468	c.370A>G	c.(370-372)Atc>Gtc	p.I124V		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	124	Ig-like V-type.				cell migration|female pregnancy	extracellular region		p.I124V(2)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				CGCTTTATGATGTGTAAGGTG	0.493													16	160					0	0	0.030593	0	0	C	43585093	T	C	43585093	3	2	22	1	0	0	0	0	1	0	0	0	12704	1464	51	3	653	3	PSG2	19	43585093	Missense_Mutation	SNP	T	TCGA-CH-5767-01A-11D-1786-08	4250553	43585093	15543890	49	1206											
SIGLEC5	8778	broad.mit.edu	37	chr19	52130800	52130800	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtcggagctgagccccccGtggaggatcagggagctgtt	7	7	17	10	2	1	1	1	1	0	0	2	5	1	5	3	5	3	3	3	5	0	1			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr19:52130800G>A	ENST00000222107.4	-	6	1335	c.1197C>T	c.(1195-1197)caC>caT	p.H399H	SIGLEC5_ENST00000599649.1_Silent_p.H399H|SIGLEC5_ENST00000534261.2_Silent_p.H399H|SIGLEC5_ENST00000570106.2_Silent_p.H399H|SIGLEC5_ENST00000429354.3_Silent_p.H399H			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	399					cell adhesion	integral to membrane	sugar binding	p.H399H(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		TGAGCCCCCCGTGGAGGATCA	0.627													20	39					0	0	0.062417	0	0	A	52130800	G	A	52130800	2	1	22	1	0	0	0	0	0	0	0	1	14366	1136	40	1		1	SIGLEC5	19	52130800	Silent	SNP	G	TCGA-CH-5767-01A-11D-1786-08	8545707	52130800	6998183	50	1207											
CHD6	0	broad.mit.edu	37	chr20	40118655	40118656	+	Frame_Shift_Ins	INS	-	-	T																															tctcatcagccaaaatacagINSttttttctgcagagagtgag																										TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr20:40118655_40118656insT	ENST00000373233.3	-	12	1619_1620	c.1442_1443insA	c.(1441-1443)atgfs	p.M481fs	CHD6_ENST00000309279.7_Frame_Shift_Ins_p.M481fs	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	481	Helicase ATP-binding.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CCAAAATACAGTTTTTTCTGCA	0.376													73	126	---	---	---	---						T	40118656	-	T	40118655	7	5	22	1	0	1	1	0	0	0	0	0	3351	1020	36	0	6808	0	CHD6	20	40118655	Frame_Shift_Ins	INS	-	TCGA-CH-5767-01A-11D-1786-08		40118655	22906865	51	1208											
TSHZ2	128553	broad.mit.edu	37	chr20	51870363	51870363	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacgaagcacacaattgcatGgataaaatgaccgctgtcta	16	8	8	9	2	1	1	0	1	1	0	1	3	1	2	1	1	3	3	1	1	6	3			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr20:51870363G>A	ENST00000371497.5	+	2	1253	c.366G>A	c.(364-366)atG>atA	p.M122I	TSHZ2_ENST00000603338.2_Missense_Mutation_p.M119I|TSHZ2_ENST00000329613.6_Missense_Mutation_p.M119I	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	122					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.M122I(2)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			ACAATTGCATGGATAAAATGA	0.522													24	32					0	0	0.069288	0	0	A	51870363	G	A	51870363	3	1	22	1	0	0	0	0	1	0	0	0	16685	1348	47	2	372	2	TSHZ2	20	51870363	Missense_Mutation	SNP	G	TCGA-CH-5767-01A-11D-1786-08	11751708	51870363	11155157	52	1209											
BAGE2	85319	broad.mit.edu	37	chr21	11085940	11085942	+	RNA	DEL	CAC	CAC	-																															accaccaccaccaccaccatCaccaccaccaccaccatcaa																										TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr21:11085940_11085942delCAC	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)		ccaccaccatcaccaccaccacc	0.532													3	3	---	---	---	---						-	11085942	CAC	-	11085940	6	5	22	0	1	1	0	1	0	0	0	0	1290	841	29	0		0	BAGE2	21	11085940	RNA	DEL	CAC	TCGA-CH-5767-01A-11D-1786-08		11085940	37043955	53	1210											
CCT8L2	150160	broad.mit.edu	37	chr22	17072407	17072407	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgtaaaccctctggcacttgCctggcctctggggagggagc	6	9	14	12	0	2	0	0	0	2	0	2	2	2	2	3	5	3	2	3	5	2	2			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr22:17072407C>T	ENST00000359963.3	-	1	1293	c.1034G>A	c.(1033-1035)gGc>gAc	p.G345D		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	345					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	p.G345A(1)|p.G345D(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CTGGCACTTGCCTGGCCTCTG	0.547													4	137					0	0	0.021553	0	0	T	17072407	C	T	17072407	3	4	22	1	0	0	0	0	1	0	0	0	2983	739	26	2	643	2	CCT8L2	22	17072407	Missense_Mutation	SNP	C	TCGA-CH-5767-01A-11D-1786-08		17072407	34232159	54	1211											
SLC7A4	6545	broad.mit.edu	37	chr22	21384286	21384286	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggacggaggcgtgtacagtgCccaccagctgtaggtggtct	7	8	16	10	2	1	0	0	0	1	0	1	2	1	2	2	5	3	3	2	5	2	2			TCGA-CH-5767-01A-11D-1786-08	TCGA-CH-5767-11B-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07b8ebf-6f30-4011-b595-5571f05c364b	1ff17ff8-6ebe-4775-bc2a-07db1eadb340	g.chr22:21384286C>T	ENST00000382932.2	-	3	1404	c.1337G>A	c.(1336-1338)gGc>gAc	p.G446D	SLC7A4_ENST00000403586.1_Missense_Mutation_p.G446D	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	446					cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity	p.G446D(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GTGTACAGTGCCCACCAGCTG	0.657													6	19					0	0	0.021553	0	0	T	21384286	C	T	21384286	3	4	22	1	0	0	0	0	1	0	0	0	14754	739	26	2	582	2	SLC7A4	22	21384286	Missense_Mutation	SNP	C	TCGA-CH-5767-01A-11D-1786-08	4311879	21384286	29920280	55	1212											
MTOR	2475	broad.mit.edu	37	chr1	11188164	11188164	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtagacttagaagccactGtcagtgggtagatgagggcc	10	9	15	7	0	1	4	1	1	0	3	1	4	1	4	2	3	1	2	2	3	4	3			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr1:11188164G>C	ENST00000361445.4	-	43	6006	c.5930C>G	c.(5929-5931)aCa>aGa	p.T1977R	MTOR_ENST00000376838.1_Missense_Mutation_p.T182R	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1977	FAT.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	p.T1977R(2)|p.T1977K(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						AGAAGCCACTGTCAGTGGGTA	0.478													10	112					0	0	1	0	0	C	11188164	G	C	11188164	3	2	23	1	0	0	0	0	1	0	0	0	10002	1377	48	4	1783	4	MTOR	1	11188164	Missense_Mutation	SNP	G	TCGA-CH-5768-01A-11D-1576-08		11188164	238062457	1	1213											
RPE65	6121	broad.mit.edu	37	chr1	68906582	68906582	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgttgtaggcaattgaaaaAttttttccaaagcaattacc	15	14	6	6	0	0	1	0	1	0	0	1	1	1	1	2	1	2	4	2	1	7	7	rs141527042		TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr1:68906582A>T	ENST00000262340.5	-	6	650	c.597T>A	c.(595-597)aaT>aaA	p.N199K		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	199					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity	p.N199K(1)		central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						CAATTGAAAAATTTTTTCCAA	0.388													3	102					0	0	1	0	0	T	68906582	A	T	68906582	3	4	23	1	0	0	0	0	1	0	0	0	13597	98	4	5	1040	5	RPE65	1	68906582	Missense_Mutation	SNP	A	TCGA-CH-5768-01A-11D-1576-08	57718418	68906582	180344039	2	1214											
PSRC1	84722	broad.mit.edu	37	chr1	109824423	109824423	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagcacaaaggtctcccgccGaggactgggcttcactcggc	8	6	12	15	3	2	0	1	0	1	0	4	2	2	1	2	4	1	2	2	4	1	1			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr1:109824423G>A	ENST00000438534.2	-	4	475	c.337C>T	c.(337-339)Cgg>Tgg	p.R113W	PSRC1_ENST00000369909.2_Missense_Mutation_p.R113W|PSRC1_ENST00000369907.3_Missense_Mutation_p.R113W|PSRC1_ENST00000409138.2_Missense_Mutation_p.R113W|PSRC1_ENST00000409267.1_Missense_Mutation_p.R113W|PSRC1_ENST00000369903.2_Missense_Mutation_p.R113W|PSRC1_ENST00000369904.3_Missense_Mutation_p.R113W	NM_001005290.3	NP_001005290.1	Q6PGN9	PSRC1_HUMAN	proline/serine-rich coiled-coil 1	113	4 X 4 AA repeats of P-X-X-P.				cell division|microtubule bundle formation|mitotic metaphase plate congression|negative regulation of cell growth|positive regulation of microtubule polymerization|positive regulation of transcription, DNA-dependent|regulation of mitotic spindle organization	cytosol|midbody|spindle pole	microtubule binding	p.R113W(1)		endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	7		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213)		GTCTCCCGCCGAGGACTGGGC	0.672													38	41					0	0	1	0	0	A	109824423	G	A	109824423	3	1	23	1	0	0	0	0	1	0	0	0	12768	1057	37	1	745	1	PSRC1	1	109824423	Missense_Mutation	SNP	G	TCGA-CH-5768-01A-11D-1576-08	40917841	109824423	139426198	3	1215											
WDR77	79084	broad.mit.edu	37	chr1	111983947	111983947	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagcccactgtggtaagcaGggagtgattgagcggggacc	9	6	16	10	1	0	2	0	2	0	0	0	4	0	4	3	4	3	2	3	4	1	2			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr1:111983947G>C	ENST00000235090.5	-	10	1140	c.934C>G	c.(934-936)Ctg>Gtg	p.L312V	WDR77_ENST00000497278.1_5'UTR|WDR77_ENST00000411751.2_Missense_Mutation_p.L248V	NM_024102.2	NP_077007.1	Q9BQA1	MEP50_HUMAN	WD repeat domain 77	312					ncRNA metabolic process|spliceosomal snRNP assembly	cytosol|nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding	p.L312V(1)		NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		GTGGTAAGCAGGGAGTGATTG	0.537													13	130					0	0	1	0	0	C	111983947	G	C	111983947	3	2	23	1	0	0	0	0	1	0	0	0	17387	991	35	4	98	4	WDR77	1	111983947	Missense_Mutation	SNP	G	TCGA-CH-5768-01A-11D-1576-08	2159524	111983947	137266674	4	1216											
AP4B1	10717	broad.mit.edu	37	chr1	114442814	114442814	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagcaaaggtcccttgacccGcacaaggacatcagtttgta	12	9	9	11	1	1	1	1	1	0	0	2	2	2	2	2	2	1	4	2	2	4	4			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr1:114442814G>A	ENST00000369569.1	-	5	1106	c.826C>T	c.(826-828)Cgg>Tgg	p.R276W	AP4B1_ENST00000256658.4_Missense_Mutation_p.R276W|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369567.1_Missense_Mutation_p.R108W|AP4B1_ENST00000369566.3_Missense_Mutation_p.R183W	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	276					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity	p.R276W(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCCTTGACCCGCACAAGGACA	0.483													13	101					0	0	1	0	0	A	114442814	G	A	114442814	3	1	23	1	0	0	0	0	1	0	0	0	747	1086	38	1	1417	1	AP4B1	1	114442814	Missense_Mutation	SNP	G	TCGA-CH-5768-01A-11D-1576-08	2458867	114442814	134807807	5	1217											
OR10T2	128360	broad.mit.edu	37	chr1	158368837	158368837	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaaatcaactccaaccccagCcttttgtttatgatgagtgt	11	13	7	10	0	1	2	1	2	0	0	2	3	2	2	4	0	3	1	4	0	4	4			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr1:158368837C>T	ENST00000334438.1	-	1	419	c.420G>A	c.(418-420)agG>agA	p.R140R		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R140R(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					CCAACCCCAGCCTTTTGTTTA	0.473													7	202					0	0	1	0	0	T	158368837	C	T	158368837	2	4	23	1	0	0	0	0	0	0	0	1	10967	738	26	2		2	OR10T2	1	158368837	Silent	SNP	C	TCGA-CH-5768-01A-11D-1576-08	43926023	158368837	90881784	6	1218											
SPTA1	6708	broad.mit.edu	37	chr1	158615313	158615313	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctccagcaagatctctatgCcagttaagtcttcggccagc	9	11	8	13	1	3	1	0	0	3	1	6	1	3	1	3	1	3	2	3	1	3	3			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr1:158615313C>A	ENST00000368148.3	-	28	4148	c.3968G>T	c.(3967-3969)gGc>gTc	p.G1323V	SPTA1_ENST00000368147.3_Missense_Mutation_p.G1323V	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1323					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GATCTCTATGCCAGTTAAGTC	0.423													4	181					0.00909568	0.00989155	1	1	0	A	158615313	C	A	158615313	3	1	23	1	0	0	0	0	1	0	0	0	15172	739	26	4	3391	4	SPTA1	1	158615313	Missense_Mutation	SNP	C	TCGA-CH-5768-01A-11D-1576-08	246476	158615313	90635308	7	1219											
OR6K6	128371	broad.mit.edu	37	chr1	158725158	158725158	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgtggcttcctccttgtgCttcctgagattgcatggatt	4	18	10	9	0	0	1	0	1	0	1	3	3	3	2	3	2	2	3	3	2	0	6			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr1:158725158C>A	ENST00000368144.2	+	1	649	c.553C>A	c.(553-555)Ctt>Att	p.L185I		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L185I(1)		endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					CCTCCTTGTGCTTCCTGAGAT	0.488													7	122					0.27861	0.288561	1	1	0	A	158725158	C	A	158725158	3	1	23	1	0	0	0	0	1	0	0	0	11251	797	28	4	555	4	OR6K6	1	158725158	Missense_Mutation	SNP	C	TCGA-CH-5768-01A-11D-1576-08	109845	158725158	90525463	8	1220											
C1orf116	79098	broad.mit.edu	37	chr1	207195320	207195320	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agtctactccttcaacagtcCcagcttcttcagggcctccc	7	11	6	17	0	4	0	2	0	2	0	7	0	7	0	4	1	3	1	4	1	2	4			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr1:207195320C>T	ENST00000359470.5	-	4	2038	c.1789G>A	c.(1789-1791)Gga>Aga	p.G597R	C1orf116_ENST00000461135.2_Missense_Mutation_p.G351R	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	597						cytoplasm|plasma membrane	receptor activity	p.G597R(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					TTCAACAGTCCCAGCTTCTTC	0.562													4	106					0	0	1	0	0	T	207195320	C	T	207195320	3	4	23	1	0	0	0	0	1	0	0	0	2002	632	22	2	20	2	C1orf116	1	207195320	Missense_Mutation	SNP	C	TCGA-CH-5768-01A-11D-1576-08	48470162	207195320	42055301	9	1221											
RYR2	6262	broad.mit.edu	37	chr1	237969520	237969520	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgccgctcaccttctcgaCattgctatgggattcaagac	8	13	8	12	2	3	1	2	0	1	1	4	3	3	2	2	1	2	2	2	1	2	5			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr1:237969520C>A	ENST00000366574.2	+	99	14552	c.14235C>A	c.(14233-14235)gaC>gaA	p.D4745E	RYR2_ENST00000542537.1_Missense_Mutation_p.D4729E|RYR2_ENST00000360064.6_Missense_Mutation_p.D4751E	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4745					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.D4745E(1)|p.D4743E(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACCTTCTCGACATTGCTATGG	0.393													27	77					2.48779e-11	2.81089e-11	1	1	0	A	237969520	C	A	237969520	3	1	23	1	0	0	0	0	1	0	0	0	13821	477	17	4	14629	4	RYR2	1	237969520	Missense_Mutation	SNP	C	TCGA-CH-5768-01A-11D-1576-08	30774200	237969520	11281101	10	1222											
APOB	338	broad.mit.edu	37	chr2	21229067	21229067	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctcccagagggaatatatgCgttggagtgtggcttctcca	8	11	13	9	1	1	1	0	0	1	1	3	3	2	3	2	3	1	3	2	3	3	4			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr2:21229067C>T	ENST00000233242.1	-	26	10800	c.10673G>A	c.(10672-10674)cGc>cAc	p.R3558H		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3558			R -> C (in FDB; dbSNP:rs12713559).		cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.R3558H(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GGAATATATGCGTTGGAGTGT	0.463													49	90					0	0	1	0	0	T	21229067	C	T	21229067	3	4	23	1	0	0	0	0	1	0	0	0	782	768	27	1	3034	1	APOB	2	21229067	Missense_Mutation	SNP	C	TCGA-CH-5768-01A-11D-1576-08		21229067	221970306	11	1223											
C2orf71	388939	broad.mit.edu	37	chr2	29295481	29295481	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggacaaacttgatcctttcGctgattgactccttcatctt	8	15	7	11	1	2	3	1	3	1	0	5	4	4	4	2	1	1	1	2	1	1	5			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr2:29295481G>A	ENST00000331664.5	-	1	1646	c.1647C>T	c.(1645-1647)agC>agT	p.S549S		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	549					response to stimulus|visual perception	photoreceptor outer segment		p.S549S(2)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TGATCCTTTCGCTGATTGACT	0.582													48	101					0	0	1	0	0	A	29295481	G	A	29295481	2	1	23	1	0	0	0	0	0	0	0	1	2205	1078	38	1		1	C2orf71	2	29295481	Silent	SNP	G	TCGA-CH-5768-01A-11D-1576-08	8066414	29295481	213903892	12	1224											
ITPRIPL1	150771	broad.mit.edu	37	chr2	96993657	96993657	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagatcattttaagtctcCggcagcatcagagcttaccc	10	11	7	13	1	3	2	2	0	1	2	5	2	4	2	3	1	3	3	3	1	2	3			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr2:96993657C>T	ENST00000361124.4	+	1	1723	c.1312C>T	c.(1312-1314)Cgg>Tgg	p.R438W	ITPRIPL1_ENST00000439118.2_Missense_Mutation_p.R430W|ITPRIPL1_ENST00000542887.1_Missense_Mutation_p.R422W|ITPRIPL1_ENST00000536814.1_Missense_Mutation_p.R422W	NM_178495.5	NP_848590.3	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	430						integral to membrane		p.R438W(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTTAAGTCTCCGGCAGCATCA	0.557													4	183					0	0	1	0	0	T	96993657	C	T	96993657	3	4	23	1	0	0	0	0	1	0	0	0	7968	643	23	1	1328	1	ITPRIPL1	2	96993657	Missense_Mutation	SNP	C	TCGA-CH-5768-01A-11D-1576-08	67698176	96993657	146205716	13	1225											
METTL5	29081	broad.mit.edu	37	chr2	170677648	170677648	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggattcataattactgtatcGaatgacttggacattctgtt	11	16	8	6	1	2	1	1	1	1	0	3	4	2	3	0	2	1	2	0	2	4	7			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr2:170677648G>A	ENST00000410097.1	-	4	495	c.360C>T	c.(358-360)ttC>ttT	p.F120F	METTL5_ENST00000308099.3_Silent_p.F120F|METTL5_ENST00000260953.5_Silent_p.F120F|METTL5_ENST00000409965.1_Silent_p.F120F|METTL5_ENST00000409837.1_Silent_p.F120F|METTL5_ENST00000409340.1_Intron|METTL5_ENST00000392640.2_Silent_p.F120F			Q9NRN9	METL5_HUMAN	methyltransferase like 5	120							methyltransferase activity|nucleic acid binding	p.F120F(2)		breast(2)|central_nervous_system(1)|large_intestine(5)|lung(1)|prostate(1)	10						TTACTGTATCGAATGACTTGG	0.303													4	117					0	0	1	0	0	A	170677648	G	A	170677648	2	1	23	1	0	0	0	0	0	0	0	1	9553	1049	37	1		1	METTL5	2	170677648	Silent	SNP	G	TCGA-CH-5768-01A-11D-1576-08	73683991	170677648	72521725	14	1226											
TTN	7273	broad.mit.edu	37	chr2	179486462	179486462	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatttttggtaaagacagctTcttcttctgcaagcattgaa	11	15	8	7	0	3	2	0	1	3	1	3	3	3	2	0	1	3	4	0	1	4	7			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr2:179486462T>G	ENST00000589042.1	-	245	45313	c.45089A>C	c.(45088-45090)gAa>gCa	p.E15030A	TTN_ENST00000591111.1_Missense_Mutation_p.E13389A|TTN_ENST00000342175.6_Missense_Mutation_p.E6157A|TTN_ENST00000342992.6_Missense_Mutation_p.E12462A|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E6090A|TTN_ENST00000460472.2_Missense_Mutation_p.E5965A|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13389	Fibronectin type-III 9.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E12462A(2)|p.E5965A(2)|p.E6157A(1)|p.E6090A(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAAGACAGCTTCTTCTTCTGC	0.353													9	66					0	0	1	0	0	G	179486462	T	G	179486462	3	3	23	1	0	0	0	0	1	0	0	0	16797	1783	62	5	63076	5	TTN	2	179486462	Missense_Mutation	SNP	T	TCGA-CH-5768-01A-11D-1576-08	8808814	179486462	63712911	15	1227											
COL3A1	1281	broad.mit.edu	37	chr2	189874962	189874962	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatgctatcaaggtattctgTaatatggaaactggggaaac	14	11	11	5	0	2	0	1	0	1	0	2	3	2	2	0	4	3	3	0	4	7	5			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr2:189874962T>C	ENST00000304636.3	+	49	4052	c.3882T>C	c.(3880-3882)tgT>tgC	p.C1294C	COL3A1_ENST00000317840.5_Silent_p.C991C	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1294	Fibrillar collagen NC1.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.C1294C(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	AGGTATTCTGTAATATGGAAA	0.403													45	132					0	0	1	0	0	C	189874962	T	C	189874962	2	2	23	1	0	0	0	0	0	0	0	1	3711	1644	57	3		3	COL3A1	2	189874962	Silent	SNP	T	TCGA-CH-5768-01A-11D-1576-08	10388500	189874962	53324411	16	1228											
SPHKAP	80309	broad.mit.edu	37	chr2	228890232	228890232	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttggaagatctggtgaaaCgttgaccagtttctgtaaag	11	14	11	5	1	2	3	0	2	2	1	2	4	2	4	1	2	1	3	1	2	4	5			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr2:228890232C>T	ENST00000392056.3	-	5	365	c.319G>A	c.(319-321)Gtt>Att	p.V107I	SPHKAP_ENST00000344657.5_Missense_Mutation_p.V107I	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	107						cytoplasm	protein binding	p.V107I(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCTGGTGAAACGTTGACCAGT	0.348													28	151					0	0	1	0	0	T	228890232	C	T	228890232	3	4	23	1	0	0	0	0	1	0	0	0	15104	536	19	1	4815	1	SPHKAP	2	228890232	Missense_Mutation	SNP	C	TCGA-CH-5768-01A-11D-1576-08	39015270	228890232	14309141	17	1229											
SEL1L3	23231	broad.mit.edu	37	chr4	25783976	25783976	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttaaccagtactttgctgctTtggcgtaatttttcttgaat	8	19	7	7	1	1	1	0	1	1	0	1	1	1	1	1	1	4	4	1	1	4	8			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr4:25783976T>C	ENST00000399878.3	-	15	2467	c.2345A>G	c.(2344-2346)aAa>aGa	p.K782R	SEL1L3_ENST00000502949.1_Missense_Mutation_p.K629R|SEL1L3_ENST00000264868.5_Missense_Mutation_p.K747R	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	782						integral to membrane	binding	p.K782R(1)|p.K629R(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						CTTTGCTGCTTTGGCGTAATT	0.418													58	110					0	0	1	0	0	C	25783976	T	C	25783976	3	2	23	1	0	0	0	0	1	0	0	0	14066	1841	64	3	1093	3	SEL1L3	4	25783976	Missense_Mutation	SNP	T	TCGA-CH-5768-01A-11D-1576-08		25783976	165370300	18	1230											
PDZD2	23037	broad.mit.edu	37	chr5	32087621	32087621	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcagagacagggagctccagGtaaccacagtaaggctctgg	12	5	14	10	0	1	1	0	0	1	1	2	3	2	2	2	4	2	5	2	4	2	2			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr5:32087621G>A	ENST00000438447.1	+	20	4455	c.4067G>A	c.(4066-4068)gGt>gAt	p.G1356D	PDZD2_ENST00000282493.3_Missense_Mutation_p.G1356D			O15018	PDZD2_HUMAN	PDZ domain containing 2	1356					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		p.G1356D(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GGAGCTCCAGGTAACCACAGT	0.597													4	29					0	0	1	0	0	A	32087621	G	A	32087621	3	1	23	1	0	0	0	0	1	0	0	0	11748	1261	44	2	4141	2	PDZD2	5	32087621	Missense_Mutation	SNP	G	TCGA-CH-5768-01A-11D-1576-08		32087621	148827639	19	1231											
SLC27A6	28965	broad.mit.edu	37	chr5	128362928	128362928	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaattgctttgtgatgtttTtaagaagggagatgtttacc	11	16	10	4	0	0	3	0	1	0	2	0	4	0	3	1	1	2	3	1	1	4	7			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr5:128362928T>A	ENST00000262462.4	+	7	2368	c.1358T>A	c.(1357-1359)tTt>tAt	p.F453Y	SLC27A6_ENST00000395266.1_Missense_Mutation_p.F453Y|SLC27A6_ENST00000506176.1_Missense_Mutation_p.F453Y			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	453					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	p.F453Y(1)		NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TGTGATGTTTTTAAGAAGGGA	0.393													96	222					0	0	1	0	0	A	128362928	T	A	128362928	3	1	23	1	0	0	0	0	1	0	0	0	14585	1841	64	5	1384	5	SLC27A6	5	128362928	Missense_Mutation	SNP	T	TCGA-CH-5768-01A-11D-1576-08	96275307	128362928	52552332	20	1232											
ACSL6	23305	broad.mit.edu	37	chr5	131308476	131308476	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attcctgatgattccactccGgacctcggcttgcttacgct	6	13	8	14	3	0	2	0	2	0	0	4	3	3	3	4	2	2	3	4	2	1	4			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr5:131308476G>A	ENST00000379264.2	-	13	1387	c.1279C>T	c.(1279-1281)Cgg>Tgg	p.R427W	ACSL6_ENST00000357096.1_Missense_Mutation_p.R327W|ACSL6_ENST00000543479.1_Missense_Mutation_p.R402W|ACSL6_ENST00000379255.1_Missense_Mutation_p.R327W|ACSL6_ENST00000431707.1_Missense_Mutation_p.R382W|ACSL6_ENST00000379249.3_Missense_Mutation_p.R402W|ACSL6_ENST00000379272.2_Missense_Mutation_p.R417W|ACSL6_ENST00000379240.1_Missense_Mutation_p.R402W|ACSL6_ENST00000379246.1_Missense_Mutation_p.R413W|ACSL6_ENST00000296869.4_Missense_Mutation_p.R427W|ACSL6_ENST00000544770.1_Missense_Mutation_p.R311W|ACSL6_ENST00000379244.1_Missense_Mutation_p.R402W	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	402					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATTCCACTCCGGACCTCGGCT	0.438													4	183					0	0	1	0	0	A	131308476	G	A	131308476	3	1	23	1	0	0	0	0	1	0	0	0	181	1115	39	1	925	1	ACSL6	5	131308476	Missense_Mutation	SNP	G	TCGA-CH-5768-01A-11D-1576-08	2945548	131308476	49606784	21	1233											
FBXW11	23291	broad.mit.edu	37	chr5	171299983	171299983	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaacaaattcacaggtgctCgtgctccagacctgtataac	12	9	8	12	2	1	1	1	0	0	1	3	2	2	1	2	1	4	3	2	1	4	3			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr5:171299983C>A	ENST00000296933.6	-	9	1501	c.1131G>T	c.(1129-1131)acG>acT	p.T377T	FBXW11_ENST00000425623.2_Silent_p.T358T|FBXW11_ENST00000393802.2_Silent_p.T356T|FBXW11_ENST00000265094.5_Silent_p.T390T	NM_033644.2|NM_033645.2	NP_387448.2|NP_387449.2	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11	390					cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	centrosome|cytosol|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	p.T390T(1)|p.T377T(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CACAGGTGCTCGTGCTCCAGA	0.418													3	73					1	1	1	1	0	A	171299983	C	A	171299983	2	1	23	1	0	0	0	0	0	0	0	1	5797	871	31	4		4	FBXW11	5	171299983	Silent	SNP	C	TCGA-CH-5768-01A-11D-1576-08	39991507	171299983	9615277	22	1234											
BTNL3	10917	broad.mit.edu	37	chr5	180432367	180432367	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatccagagacggctcaccCgaagctctgcgtttctgatc	8	9	11	13	3	3	2	1	1	2	1	5	5	4	3	2	2	2	3	2	2	1	1			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr5:180432367C>T	ENST00000342868.6	+	8	1080	c.896C>T	c.(895-897)cCg>cTg	p.P299L		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	299	B30.2/SPRY.				lipid metabolic process	integral to membrane		p.P299L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			ACGGCTCACCCGAAGCTCTGC	0.537													42	101					0	0	1	0	0	T	180432367	C	T	180432367	3	4	23	1	0	0	0	0	1	0	0	0	1569	652	23	1	926	1	BTNL3	5	180432367	Missense_Mutation	SNP	C	TCGA-CH-5768-01A-11D-1576-08	9132384	180432367	482893	23	1235											
TNXB	7148	broad.mit.edu	37	chr6	32053832	32053832	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggagcctgggccccttgcGtcgtcgaggggcctgaggga	5	6	19	11	3	0	1	0	1	0	0	2	5	0	3	4	5	2	0	4	5	0	1			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr6:32053832G>A	ENST00000375244.3	-	7	3044	c.2843C>T	c.(2842-2844)aCg>aTg	p.T948M	TNXB_ENST00000375247.2_Missense_Mutation_p.T948M			P22105	TENX_HUMAN	tenascin XB	1035	Fibronectin type-III 2.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	p.T1035M(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGCCCCTTGCGTCGTCGAGGG	0.662													4	5					0	0	1	0	0	A	32053832	G	A	32053832	3	1	23	1	0	0	0	0	1	0	0	0	16406	1145	40	1	12022	1	TNXB	6	32053832	Missense_Mutation	SNP	G	TCGA-CH-5768-01A-11D-1576-08		32053832	139061235	24	1236											
GABRR2	2570	broad.mit.edu	37	chr6	89974189	89974189	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtcaggtagttgacagccGcatactccagcaccgagagg	10	7	13	11	2	1	2	1	1	0	1	2	3	2	2	3	3	3	4	3	3	2	3	rs149245573	by1000genomes	TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr6:89974189G>A	ENST00000402938.3	-	8	1161	c.1028C>T	c.(1027-1029)gCg>gTg	p.A343V	GABRR2_ENST00000602399.1_Missense_Mutation_p.A368V			P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	368					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	p.A343V(3)		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)		GTTGACAGCCGCATACTCCAG	0.597													3	62					0	0	1	0	0	A	89974189	G	A	89974189	3	1	23	1	0	0	0	0	1	0	0	0	6212	1087	38	1	377	1	GABRR2	6	89974189	Missense_Mutation	SNP	G	TCGA-CH-5768-01A-11D-1576-08	57920357	89974189	81140878	25	1237											
DPY19L1	23333	broad.mit.edu	37	chr7	34981489	34981489	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctaacaattgcaatgcatggTaaaccagctgaaagaaagaa	19	7	8	7	0	0	3	0	1	0	2	0	3	0	3	1	1	5	4	1	1	8	3			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr7:34981489T>A	ENST00000310974.4	-	18	1502	c.1358A>T	c.(1357-1359)tAc>tTc	p.Y453F		NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	453						integral to membrane		p.Y453F(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						CAATGCATGGTAAACCAGCTG	0.363													6	203					0	0	1	0	0	A	34981489	T	A	34981489	3	1	23	1	0	0	0	0	1	0	0	0	4766	1638	57	5	689	5	DPY19L1	7	34981489	Missense_Mutation	SNP	T	TCGA-CH-5768-01A-11D-1576-08		34981489	124157174	26	1238											
WBSCR17	64409	broad.mit.edu	37	chr7	71130409	71130409	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cccctaggtatggctctgtgGgggcagcatggaggtccttc	5	10	15	11	0	1	0	0	0	1	0	3	1	2	1	3	6	1	4	3	6	2	3			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr7:71130409G>A	ENST00000333538.5	+	7	1728	c.1094G>A	c.(1093-1095)gGg>gAg	p.G365E	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	365	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.G365E(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TGGCTCTGTGGGGGCAGCATG	0.512													15	212					0	0	1	0	0	A	71130409	G	A	71130409	3	1	23	1	0	0	0	0	1	0	0	0	17324	1232	43	2	1120	2	WBSCR17	7	71130409	Missense_Mutation	SNP	G	TCGA-CH-5768-01A-11D-1576-08	36148920	71130409	88008254	27	1239											
FZD1	8321	broad.mit.edu	37	chr7	90895231	90895231	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttacgtacctggtggacatgCggcgcttcagctacccggag	7	9	13	12	4	1	0	1	0	0	0	1	2	1	2	2	4	5	3	2	4	3	4			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr7:90895231C>T	ENST00000287934.2	+	1	1449	c.1036C>T	c.(1036-1038)Cgg>Tgg	p.R346W		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled family receptor 1	346					autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding	p.R346W(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			GGTGGACATGCGGCGCTTCAG	0.637													5	179					0	0	1	0	0	T	90895231	C	T	90895231	3	4	23	1	0	0	0	0	1	0	0	0	6163	759	27	1	1038	1	FZD1	7	90895231	Missense_Mutation	SNP	C	TCGA-CH-5768-01A-11D-1576-08	19764822	90895231	68243432	28	1240											
DGKI	9162	broad.mit.edu	37	chr7	137082144	137082144	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcactgtctgccatatccAataactcggaaggtcctaaa	12	12	6	11	1	2	0	1	0	1	0	5	1	4	1	3	2	2	0	3	2	6	4			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr7:137082144A>T	ENST00000453654.1	-	31	2506	c.1967T>A	c.(1966-1968)tTg>tAg	p.L656*	DGKI_ENST00000494390.1_5'UTR|DGKI_ENST00000288490.5_Nonsense_Mutation_p.L987*|DGKI_ENST00000446122.1_Nonsense_Mutation_p.L969*|DGKI_ENST00000424189.2_Nonsense_Mutation_p.L1000*			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	987					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	p.L987*(1)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						TGCCATATCCAATAACTCGGA	0.333													7	165					0	0	1	0	0	T	137082144	A	T	137082144	4	4	23	1	0	0	0	0	0	1	0	0	4499	131	5	5	249	5	DGKI	7	137082144	Nonsense_Mutation	SNP	A	TCGA-CH-5768-01A-11D-1576-08	46186913	137082144	22056519	29	1241											
ADRA1A	148	broad.mit.edu	37	chr8	26721617	26721617	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacttaccaatgggcatgacTaagaaaaaaggcagccagca	17	5	10	9	0	0	2	0	1	0	1	0	3	0	2	2	2	3	3	2	2	6	2			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr8:26721617T>G	ENST00000380573.3	-	2	1893	c.870A>C	c.(868-870)ttA>ttC	p.L290F	ADRA1A_ENST00000519229.1_Missense_Mutation_p.L290F|ADRA1A_ENST00000354550.4_Missense_Mutation_p.L290F|ADRA1A_ENST00000380587.1_Missense_Mutation_p.L290F|ADRA1A_ENST00000380581.2_Missense_Mutation_p.L290F|ADRA1A_ENST00000276393.4_Missense_Mutation_p.L290F|ADRA1A_ENST00000358857.5_Missense_Mutation_p.L290F|ADRA1A_ENST00000380586.1_Missense_Mutation_p.L290F|ADRA1A_ENST00000380582.3_Missense_Mutation_p.L290F|ADRA1A_ENST00000380572.3_Missense_Mutation_p.L290F			P35348	ADA1A_HUMAN	adrenoceptor alpha 1A	290					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity	p.L290F(5)		breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	TGGGCATGACTAAGAAAAAAG	0.562													4	39					0	0	1	0	0	G	26721617	T	G	26721617	3	3	23	1	0	0	0	0	1	0	0	0	333	1519	53	5	829	5	ADRA1A	8	26721617	Missense_Mutation	SNP	T	TCGA-CH-5768-01A-11D-1576-08		26721617	119642405	30	1242											
SULF1	23213	broad.mit.edu	37	chr8	70533358	70533358	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcacagtccggcagagcaCgcggaacctctacgctcgcg	8	5	12	16	6	2	1	1	0	1	1	4	2	3	2	2	2	3	4	2	2	2	1			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr8:70533358C>T	ENST00000260128.4	+	14	2183	c.1466C>T	c.(1465-1467)aCg>aTg	p.T489M	SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000402687.4_Missense_Mutation_p.T489M|SULF1_ENST00000458141.2_Missense_Mutation_p.T489M|SULF1_ENST00000419716.3_Missense_Mutation_p.T489M	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	489					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	p.T489M(1)		breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CGGCAGAGCACGCGGAACCTC	0.522													22	85					0	0	1	0	0	T	70533358	C	T	70533358	3	4	23	1	0	0	0	0	1	0	0	0	15426	536	19	1	1504	1	SULF1	8	70533358	Missense_Mutation	SNP	C	TCGA-CH-5768-01A-11D-1576-08	43811741	70533358	75830664	31	1243											
SLC45A4	57210	broad.mit.edu	37	chr8	142226017	142226017	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagcccagcgtccccagcacGtagatcaccctgacgctcag	10	5	9	17	3	2	2	2	1	0	1	3	2	3	2	4	0	3	3	4	0	2	1			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr8:142226017G>A	ENST00000519067.1	-	6	1932	c.1629C>T	c.(1627-1629)taC>taT	p.Y543Y	SLC45A4_ENST00000433583.2_Silent_p.Y536Y|SLC45A4_ENST00000024061.3_Silent_p.Y543Y|SLC45A4_ENST00000517878.1_Silent_p.Y594Y			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	594					transport	integral to membrane		p.Y543Y(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TCCCCAGCACGTAGATCACCC	0.602													8	39					0	0	1	0	0	A	142226017	G	A	142226017	2	1	23	1	0	0	0	0	0	0	0	1	14698	1140	40	1		1	SLC45A4	8	142226017	Silent	SNP	G	TCGA-CH-5768-01A-11D-1576-08	71692659	142226017	4138005	32	1244											
MPDZ	8777	broad.mit.edu	37	chr9	13190228	13190228	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctcttctgtactctgacccGcatcagtcatcgccagcact	7	11	6	17	2	5	1	2	1	3	0	6	1	5	1	3	0	2	3	3	0	1	2	rs147686842	by1000genomes	TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr9:13190228G>A	ENST00000319217.7	-	16	2286	c.2039C>T	c.(2038-2040)gCg>gTg	p.A680V	MPDZ_ENST00000536827.1_Missense_Mutation_p.A680V|MPDZ_ENST00000546205.1_Missense_Mutation_p.A680V|MPDZ_ENST00000541718.1_Missense_Mutation_p.A680V|MPDZ_ENST00000381022.2_Missense_Mutation_p.A680V|MPDZ_ENST00000447879.1_Missense_Mutation_p.A680V|MPDZ_ENST00000381015.4_Missense_Mutation_p.A680V	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	680					interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	p.A680V(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		ACTCTGACCCGCATCAGTCAT	0.502													3	55					0	0	1	0	0	A	13190228	G	A	13190228	3	1	23	1	0	0	0	0	1	0	0	0	9771	1087	38	1	4210	1	MPDZ	9	13190228	Missense_Mutation	SNP	G	TCGA-CH-5768-01A-11D-1576-08		13190228	128023203	33	1245											
GAD2	2572	broad.mit.edu	37	chr10	26581402	26581402	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcttacctaggggactacCgggtttgaagcgcatgttga	8	12	12	9	2	1	2	0	2	1	0	2	3	1	3	2	3	3	3	2	3	4	5			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr10:26581402C>T	ENST00000376261.3	+	14	1898	c.1395C>T	c.(1393-1395)acC>acT	p.T465T	GAD2_ENST00000259271.3_Silent_p.T465T	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	465					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	p.T465T(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	AGGGGACTACCGGGTTTGAAG	0.468													34	82					0	0	1	0	0	T	26581402	C	T	26581402	2	4	23	1	0	0	0	0	0	0	0	1	6215	639	23	1		1	GAD2	10	26581402	Silent	SNP	C	TCGA-CH-5768-01A-11D-1576-08		26581402	108953345	34	1246											
NCOA4	8031	broad.mit.edu	37	chr10	51584833	51584833	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gctagtgactccccaggaatCccataagctgcggaagcctg	10	7	11	13	1	0	1	0	1	0	0	2	3	2	3	4	2	3	2	4	2	4	2			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr10:51584833C>T	ENST00000452682.1	+	9	1232	c.980C>T	c.(979-981)tCc>tTc	p.S327F	NCOA4_ENST00000438493.1_Missense_Mutation_p.S327F|NCOA4_ENST00000374087.4_Missense_Mutation_p.S311F|NCOA4_ENST00000374082.1_Missense_Mutation_p.S311F|NCOA4_ENST00000443446.1_Missense_Mutation_p.S311F|NCOA4_ENST00000414907.2_Missense_Mutation_p.S145F|NCOA4_ENST00000430396.2_Missense_Mutation_p.S211F|NCOA4_ENST00000344348.6_Missense_Mutation_p.S311F	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	311					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity	p.S327F(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						CCCCAGGAATCCCATAAGCTG	0.438			T	RET	papillary thyroid								43	82					0	0	1	0	0	T	51584833	C	T	51584833	3	4	23	1	0	0	0	0	1	0	0	0	10278	855	30	2	1010	2	NCOA4	10	51584833	Missense_Mutation	SNP	C	TCGA-CH-5768-01A-11D-1576-08	25003431	51584833	83949914	35	1247											
SLIT1	6585	broad.mit.edu	37	chr10	98762741	98762741	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagctgagttgacatccaCgggcatccctggggtagggg	7	7	17	10	1	0	2	0	2	0	0	2	2	2	2	2	6	1	5	2	6	1	2			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr10:98762741C>T	ENST00000266058.4	-	35	4119	c.3874G>A	c.(3874-3876)Gtg>Atg	p.V1292M	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.V1292M	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1292	Laminin G-like.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	p.V1292M(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TTGACATCCACGGGCATCCCT	0.627													10	159					0	0	1	0	0	T	98762741	C	T	98762741	3	4	23	1	0	0	0	0	1	0	0	0	14793	536	19	1	742	1	SLIT1	10	98762741	Missense_Mutation	SNP	C	TCGA-CH-5768-01A-11D-1576-08	47177908	98762741	36772006	36	1248											
ADAM12	8038	broad.mit.edu	37	chr10	127737879	127737879	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgggtccggcatgtcatcGcccaagtacacgtgggtccc	6	8	12	15	3	1	0	1	0	0	0	4	0	3	0	4	3	1	2	4	3	2	1			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr10:127737879G>A	ENST00000368679.4	-	16	2178	c.1869C>T	c.(1867-1869)ggC>ggT	p.G623G	ADAM12_ENST00000368676.4_Silent_p.G623G	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	623	Cys-rich.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding	p.G623G(4)		biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		GCATGTCATCGCCCAAGTACA	0.532													139	266					0	0	1	0	0	A	127737879	G	A	127737879	2	1	23	1	0	0	0	0	0	0	0	1	235	1074	38	1		1	ADAM12	10	127737879	Silent	SNP	G	TCGA-CH-5768-01A-11D-1576-08	28975138	127737879	7796868	37	1249											
RAG1	5896	broad.mit.edu	37	chr11	36595189	36595189	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaccttcgacatctctgccGcatctgtgggaattctttta	8	14	7	12	2	3	0	0	0	3	0	5	2	3	1	2	1	2	1	2	1	3	4	rs4151026		TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr11:36595189G>A	ENST00000299440.5	+	2	447	c.335G>A	c.(334-336)cGc>cAc	p.R112H		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	112	Interaction with importin alpha-1.				histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	p.R112L(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				CATCTCTGCCGCATCTGTGGG	0.453									Familial Hemophagocytic Lymphohistiocytosis				4	149					0	0	1	0	0	A	36595189	G	A	36595189	3	1	23	1	0	0	0	0	1	0	0	0	13055	1087	38	1	337	1	RAG1	11	36595189	Missense_Mutation	SNP	G	TCGA-CH-5768-01A-11D-1576-08		36595189	98411327	38	1250											
OR5B12	390191	broad.mit.edu	37	chr11	58206811	58206811	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tatggcatagaacacagatgCcattttgtctgtgcccatga	11	12	9	9	0	1	3	0	1	1	2	1	3	1	3	2	1	3	1	2	1	3	4			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr11:58206811C>A	ENST00000302572.2	-	1	835	c.814G>T	c.(814-816)Gca>Tca	p.A272S		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A272S(1)		large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AACACAGATGCCATTTTGTCT	0.433													6	107					0.217242	0.227712	1	1	0	A	58206811	C	A	58206811	3	1	23	1	0	0	0	0	1	0	0	0	11195	739	26	4	134	4	OR5B12	11	58206811	Missense_Mutation	SNP	C	TCGA-CH-5768-01A-11D-1576-08	21611622	58206811	76799705	39	1251											
AHNAK	79026	broad.mit.edu	37	chr11	62286704	62286704	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catccggccctgcgatgttgAcatctacatccggagccttg	7	10	10	14	3	1	1	0	1	1	0	3	3	3	2	4	2	3	1	4	2	1	3			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr11:62286704A>C	ENST00000378024.4	-	5	15459	c.15185T>G	c.(15184-15186)gTc>gGc	p.V5062G	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5062					nervous system development	nucleus	protein binding	p.V5062G(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGCGATGTTGACATCTACATC	0.463													7	408					0	0	1	0	0	C	62286704	A	C	62286704	3	2	23	1	0	0	0	0	1	0	0	0	411	275	10	5	2607	5	AHNAK	11	62286704	Missense_Mutation	SNP	A	TCGA-CH-5768-01A-11D-1576-08	4079893	62286704	72719812	40	1252											
B3GAT3	26229	broad.mit.edu	37	chr11	62389399	62389399	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggaagtaggcgagaaacacGttcttcagcttcagcttcat	12	10	10	9	2	4	1	3	0	1	1	4	3	4	2	0	2	3	4	0	2	3	5			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr11:62389399G>T	ENST00000531383.1	-	1	227	c.21C>A	c.(19-21)aaC>aaA	p.N7K	B3GAT3_ENST00000534026.1_Missense_Mutation_p.N7K|B3GAT3_ENST00000265471.5_Missense_Mutation_p.N7K			O94766	B3GA3_HUMAN	beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)	7					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding	p.N7K(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						CGAGAAACACGTTCTTCAGCT	0.726													9	19					6.40141e-05	7.14004e-05	1	1	0	T	62389399	G	T	62389399	3	4	23	1	0	0	0	0	1	0	0	0	1253	1136	40	4	1006	4	B3GAT3	11	62389399	Missense_Mutation	SNP	G	TCGA-CH-5768-01A-11D-1576-08	102695	62389399	72617117	41	1253											
MAP6	4135	broad.mit.edu	37	chr11	75316878	75316878	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcctcagccagtttattgtTcatctctttgctttgctcct	4	18	6	13	1	3	0	2	0	1	0	5	0	4	0	3	0	3	4	3	0	1	6			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr11:75316878T>G	ENST00000434603.2	-	3	1355	c.1291A>C	c.(1291-1293)Aac>Cac	p.N431H	MAP6_ENST00000526740.1_Missense_Mutation_p.N102H|MAP6_ENST00000304771.3_Missense_Mutation_p.N431H	NM_207577.1	NP_997460.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	431						Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding	p.N431H(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					AGTTTATTGTTCATCTCTTTG	0.488													5	257					0	0	1	0	0	G	75316878	T	G	75316878	3	3	23	1	0	0	0	0	1	0	0	0	9314	1783	62	5	1162	5	MAP6	11	75316878	Missense_Mutation	SNP	T	TCGA-CH-5768-01A-11D-1576-08	12927479	75316878	59689638	42	1254											
USP5	0	broad.mit.edu	37	chr12	6964975	6964975	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccccggaagaagcccacgcgGctggctattggtgagcaccg	8	5	14	14	4	0	2	0	1	0	1	0	3	0	3	4	4	2	3	4	4	3	2			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr12:6964975G>A	ENST00000229268.8	+	3	346	c.294G>A	c.(292-294)cgG>cgA	p.R98R	USP5_ENST00000389231.5_Silent_p.R98R	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	98					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						AGCCCACGCGGCTGGCTATTG	0.582													4	159					0	0	1	0	0	A	6964975	G	A	6964975	2	1	23	1	0	0	0	0	0	0	0	1	17141	1190	42	2		2	USP5	12	6964975	Silent	SNP	G	TCGA-CH-5768-01A-11D-1576-08		6964975	126886920	43	1255											
LRP1	4035	broad.mit.edu	37	chr12	57587385	57587385	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagactttccggcagtgcaGcaatgggcgctgtgtgtcca	8	9	14	10	2	0	1	0	0	0	1	2	2	2	1	2	2	2	4	2	2	2	1			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr12:57587385G>A	ENST00000243077.3	+	47	8187	c.7721G>A	c.(7720-7722)aGc>aAc	p.S2574N		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2574	LDL-receptor class A 12.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	p.S2574N(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CGGCAGTGCAGCAATGGGCGC	0.612													3	48					0	0	1	0	0	A	57587385	G	A	57587385	3	1	23	1	0	0	0	0	1	0	0	0	8996	971	34	2	7907	2	LRP1	12	57587385	Missense_Mutation	SNP	G	TCGA-CH-5768-01A-11D-1576-08	50622410	57587385	76264510	44	1256											
USP15	9958	broad.mit.edu	37	chr12	62784708	62784708	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctacactgctgtaaggacCaaaatattaatgggaatggc	14	9	9	9	0	0	0	0	0	0	0	0	2	0	2	2	3	2	2	2	3	7	4			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr12:62784708C>A	ENST00000280377.5	+	15	1967	c.1909C>A	c.(1909-1911)Caa>Aaa	p.Q637K	USP15_ENST00000353364.3_Missense_Mutation_p.Q608K|USP15_ENST00000393654.3_Missense_Mutation_p.Q612K	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	637					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.Q608K(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		CTGTAAGGACCAAAATATTAA	0.348													3	104					1	1	1	1	0	A	62784708	C	A	62784708	3	1	23	1	0	0	0	0	1	0	0	0	17106	595	21	4	1876	4	USP15	12	62784708	Missense_Mutation	SNP	C	TCGA-CH-5768-01A-11D-1576-08	5197323	62784708	71067187	45	1257											
POLE	5426	broad.mit.edu	37	chr12	133249852	133249852	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagcatctgacacagaataCgtggccagagtctgaggaga	14	6	12	9	1	2	5	0	2	2	3	2	6	2	5	1	2	2	1	1	2	2	1			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr12:133249852C>T	ENST00000320574.5	-	14	1414	c.1371G>A	c.(1369-1371)acG>acA	p.T457T	POLE_ENST00000535270.1_Silent_p.T430T	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	457					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	p.T457T(3)		NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		ACACAGAATACGTGGCCAGAG	0.527								DNA polymerases (catalytic subunits)					45	76					0	0	1	0	0	T	133249852	C	T	133249852	2	4	23	1	0	0	0	0	0	0	0	1	12244	523	19	1		1	POLE	12	133249852	Silent	SNP	C	TCGA-CH-5768-01A-11D-1576-08	70465144	133249852	602043	46	1258											
FRY	10129	broad.mit.edu	37	chr13	32759237	32759237	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaattcttaaagatatcCgggcacattttagtgcaatg	13	14	8	6	1	1	2	0	1	1	1	2	2	2	2	1	1	1	2	1	1	6	6			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr13:32759237C>T	ENST00000380250.3	+	26	3767	c.3271C>T	c.(3271-3273)Cgg>Tgg	p.R1091W		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1091					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		p.R1091W(1)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TAAAGATATCCGGGCACATTT	0.428													14	200					0	0	1	0	0	T	32759237	C	T	32759237	3	4	23	1	0	0	0	0	1	0	0	0	6098	643	23	1	3373	1	FRY	13	32759237	Missense_Mutation	SNP	C	TCGA-CH-5768-01A-11D-1576-08		32759237	82410641	47	1259											
RPGRIP1	57096	broad.mit.edu	37	chr14	21796693	21796693	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagcaccaggttgtgagctaCtcaagaagaaaacatggcaa	16	6	11	8	0	1	3	1	1	0	2	1	4	1	3	1	2	4	4	1	2	6	2			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr14:21796693C>A	ENST00000206660.6	+	18	3006	c.3006C>A	c.(3004-3006)taC>taA	p.Y1002*	RPGRIP1_ENST00000557771.1_Nonsense_Mutation_p.Y964*|RPGRIP1_ENST00000307974.4_Nonsense_Mutation_p.Y361*|RPGRIP1_ENST00000400017.2_Nonsense_Mutation_p.Y1002*|RPGRIP1_ENST00000382933.4_Nonsense_Mutation_p.Y328*|RPGRIP1_ENST00000556336.1_Nonsense_Mutation_p.Y659*			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	1002	Interaction with RPGR.				response to stimulus|visual perception	cilium		p.Y618*(1)|p.Y1002*(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		TTGTGAGCTACTCAAGAAGAA	0.428													3	110					0.115264	0.122292	1	1	0	A	21796693	C	A	21796693	4	1	23	1	0	0	0	0	0	1	0	0	13601	576	20	4	3076	4	RPGRIP1	14	21796693	Nonsense_Mutation	SNP	C	TCGA-CH-5768-01A-11D-1576-08		21796693	85552847	48	1260											
ZFP36L1	677	broad.mit.edu	37	chr14	69256543	69256543	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attggtgccatcgggcagggTaggtgagcccaggaggtcat	8	8	17	8	1	1	1	1	1	0	0	2	2	1	2	2	6	2	2	2	6	1	2			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr14:69256543T>C	ENST00000439696.2	-	2	1025	c.724A>G	c.(724-726)Acc>Gcc	p.T242A	ZFP36L1_ENST00000336440.3_Missense_Mutation_p.T242A|ZFP36L1_ENST00000555997.1_3'UTR	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	242					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T242A(1)		breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TCGGGCAGGGTAGGTGAGCCC	0.677											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	179					0	0	1	0	0	C	69256543	T	C	69256543	3	2	23	1	0	0	0	0	1	0	0	0	17704	1638	57	3	296	3	ZFP36L1	14	69256543	Missense_Mutation	SNP	T	TCGA-CH-5768-01A-11D-1576-08	47459850	69256543	38092997	49	1261											
AHNAK2	113146	broad.mit.edu	37	chr14	105406624	105406624	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtgtcttgaaagctacccCctgctgtggcactagaaagg	9	10	11	11	0	1	2	0	1	1	1	1	2	1	2	2	2	3	3	2	2	4	3			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr14:105406624C>G	ENST00000333244.5	-	7	15283	c.15164G>C	c.(15163-15165)gGg>gCg	p.G5055A	AHNAK2_ENST00000557457.1_Missense_Mutation_p.G53A	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5055						nucleus		p.G25A(1)|p.G5055A(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AAAGCTACCCCCTGCTGTGGC	0.547													6	180					0	0	1	0	0	G	105406624	C	G	105406624	3	3	23	1	0	0	0	0	1	0	0	0	412	623	22	4	2227	4	AHNAK2	14	105406624	Missense_Mutation	SNP	C	TCGA-CH-5768-01A-11D-1576-08	36150081	105406624	1942916	50	1262											
DET1	55070	broad.mit.edu	37	chr15	89074369	89074369	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatgatatggagggaatagtCttctagaggggaccgtgggt	11	10	16	4	1	2	2	0	1	2	1	2	5	2	5	1	5	0	0	1	5	5	4			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr15:89074369C>G	ENST00000564406.1	-	3	761	c.601G>C	c.(601-603)Gac>Cac	p.D201H	DET1_ENST00000268148.8_Missense_Mutation_p.D190H|DET1_ENST00000558413.1_Intron|DET1_ENST00000444300.1_Missense_Mutation_p.D201H	NM_017996.3	NP_060466.2	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	190						nucleus		p.D201H(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			AGGGAATAGTCTTCTAGAGGG	0.522													23	46					0	0	1	0	0	G	89074369	C	G	89074369	3	3	23	1	0	0	0	0	1	0	0	0	4478	913	32	4	1100	4	DET1	15	89074369	Missense_Mutation	SNP	C	TCGA-CH-5768-01A-11D-1576-08		89074369	13457023	51	1263											
PRSS22	64063	broad.mit.edu	37	chr16	2903247	2903247	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accccgggcctgttgcgctcGgcacagccctcgccccagct	4	6	11	20	4	0	0	0	0	0	0	2	0	0	0	6	2	3	4	6	2	0	1			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr16:2903247G>A	ENST00000161006.3	-	6	866	c.801C>T	c.(799-801)gcC>gcT	p.A267A	PRSS22_ENST00000571228.1_Silent_p.A157A	NM_022119.3	NP_071402.1	Q9GZN4	BSSP4_HUMAN	protease, serine, 22	267	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.A267A(1)		central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						TGTTGCGCTCGGCACAGCCCT	0.716													4	30					0	0	1	0	0	A	2903247	G	A	2903247	2	1	23	1	0	0	0	0	0	0	0	1	12668	1103	39	1		1	PRSS22	16	2903247	Silent	SNP	G	TCGA-CH-5768-01A-11D-1576-08		2903247	87451506	52	1264											
GRIN2A	0	broad.mit.edu	37	chr16	9858281	9858281	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttagggagtgggtcctattCtctgctgttgcctcatccct	4	16	10	11	0	2	0	1	0	1	0	5	1	4	1	3	2	2	2	3	2	2	5			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr16:9858281C>A	ENST00000396573.2	-	14	3429	c.3120G>T	c.(3118-3120)gaG>gaT	p.E1040D	GRIN2A_ENST00000396575.2_Missense_Mutation_p.E1040D|GRIN2A_ENST00000330684.3_Missense_Mutation_p.E1040D|GRIN2A_ENST00000535259.1_Missense_Mutation_p.E883D|GRIN2A_ENST00000404927.2_Missense_Mutation_p.E1040D|GRIN2A_ENST00000562109.1_Missense_Mutation_p.E1040D	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1040					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.E1040D(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGGTCCTATTCTCTGCTGTTG	0.532													100	232					1.10825e-40	1.26865e-40	1	1	0	A	9858281	C	A	9858281	3	1	23	1	0	0	0	0	1	0	0	0	6820	912	32	4	1278	4	GRIN2A	16	9858281	Missense_Mutation	SNP	C	TCGA-CH-5768-01A-11D-1576-08	6955034	9858281	80496472	53	1265											
DNAH3	55567	broad.mit.edu	37	chr16	21033374	21033374	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacaaatttacaatgaaggcGaccaaattccaggcagggct	16	7	9	9	1	0	1	0	1	0	0	1	2	1	1	2	3	2	2	2	3	6	3	rs146618931	by1000genomes	TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr16:21033374G>A	ENST00000261383.3	-	40	5694	c.5695C>T	c.(5695-5697)Cgc>Tgc	p.R1899C	DNAH3_ENST00000415178.1_Intron	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1899	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R1899C(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CAATGAAGGCGACCAAATTCC	0.458													20	36					0	0	1	0	0	A	21033374	G	A	21033374	3	1	23	1	0	0	0	0	1	0	0	0	4631	1058	37	1	6746	1	DNAH3	16	21033374	Missense_Mutation	SNP	G	TCGA-CH-5768-01A-11D-1576-08	11175093	21033374	69321379	54	1266											
ZNF276	92822	broad.mit.edu	37	chr16	89804607	89804607	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caccacctgggccaccgagcCcctctgtgaccacagagggc	8	4	11	18	1	1	2	0	1	1	1	1	3	1	2	7	2	1	0	7	2	0	0			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr16:89804607C>T	ENST00000289816.5	+	11	1885	c.1573C>T	c.(1573-1575)Ccc>Tcc	p.P525S	ZNF276_ENST00000443381.2_Missense_Mutation_p.P600S|ZNF276_ENST00000446326.2_Missense_Mutation_p.P386S|FANCA_ENST00000389301.3_3'UTR|ZNF276_ENST00000568064.1_3'UTR	NM_152287.3	NP_689500.2	Q8N554	ZN276_HUMAN	zinc finger protein 276	600					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P525S(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		GCCACCGAGCCCCTCTGTGAC	0.647													3	8					0	0	1	0	0	T	89804607	C	T	89804607	3	4	23	1	0	0	0	0	1	0	0	0	17869	623	22	2	1840	2	ZNF276	16	89804607	Missense_Mutation	SNP	C	TCGA-CH-5768-01A-11D-1576-08	68771233	89804607	550146	55	1267											
NCOR1	9611	broad.mit.edu	37	chr17	15976858	15976858	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgagctgttcttggactcctAgtcccttctcgggcattctt	4	16	9	12	1	3	1	0	1	3	0	6	2	5	2	2	2	1	3	2	2	1	6			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr17:15976858A>C	ENST00000268712.3	-	28	3953	c.3696T>G	c.(3694-3696)acT>acG	p.T1232T	NCOR1_ENST00000395857.3_Intron|NCOR1_ENST00000395851.1_Silent_p.T1248T	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1232	Interaction with ETO.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	p.T1232T(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TTGGACTCCTAGTCCCTTCTC	0.393													10	131					0	0	1	0	0	C	15976858	A	C	15976858	2	2	23	1	0	0	0	0	0	0	0	1	10282	407	15	5		5	NCOR1	17	15976858	Silent	SNP	A	TCGA-CH-5768-01A-11D-1576-08		15976858	65218352	56	1268											
MYO15A	51168	broad.mit.edu	37	chr17	18052094	18052094	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggctggcagatggctggCgcggctggaccgtggccatg	4	6	21	10	3	0	1	0	0	0	1	0	2	0	2	2	8	0	4	2	8	0	0			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr17:18052094C>T	ENST00000205890.5	+	33	7122	c.6784C>T	c.(6784-6786)Cgc>Tgc	p.R2262C		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2262	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	p.R2262C(1)		breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AGATGGCTGGCGCGGCTGGAC	0.602													4	3					0	0	1	0	0	T	18052094	C	T	18052094	3	4	23	1	0	0	0	0	1	0	0	0	10111	768	27	1	6906	1	MYO15A	17	18052094	Missense_Mutation	SNP	C	TCGA-CH-5768-01A-11D-1576-08	2075236	18052094	63143116	57	1269											
KRT25	147183	broad.mit.edu	37	chr17	38906791	38906791	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatctgagcctggatctgcGccagctgcgcacagtagttg	7	9	13	12	3	2	1	0	1	2	0	2	3	2	2	2	1	4	4	2	1	1	2			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr17:38906791G>A	ENST00000312150.4	-	6	1076	c.1016C>T	c.(1015-1017)gCg>gTg	p.A339V		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	339	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity	p.A339V(1)		endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				CTGGATCTGCGCCAGCTGCGC	0.562													7	349					0	0	1	0	0	A	38906791	G	A	38906791	3	1	23	1	0	0	0	0	1	0	0	0	8505	1087	38	1	348	1	KRT25	17	38906791	Missense_Mutation	SNP	G	TCGA-CH-5768-01A-11D-1576-08	20854697	38906791	42288419	58	1270											
CACNA1A	773	broad.mit.edu	37	chr19	13410024	13410024	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctggccgcaggtgccgcGtgtaggcagccttccagcgc	4	8	15	14	4	1	0	0	0	1	0	2	0	2	0	4	3	3	3	4	3	1	2			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr19:13410024G>A	ENST00000360228.5	-	19	2422	c.2423C>T	c.(2422-2424)aCg>aTg	p.T808M	CACNA1A_ENST00000573710.2_Missense_Mutation_p.T809M	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	809					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	p.T809M(3)|p.T808M(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CAGGTGCCGCGTGTAGGCAGC	0.642													3	48					0	0	1	0	0	A	13410024	G	A	13410024	3	1	23	1	0	0	0	0	1	0	0	0	2556	1145	40	1	5315	1	CACNA1A	19	13410024	Missense_Mutation	SNP	G	TCGA-CH-5768-01A-11D-1576-08		13410024	45718959	59	1271											
NXNL1	115861	broad.mit.edu	37	chr19	17571713	17571713	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgctggggacagcgcggcGtgtggtccccggtctgctga	3	8	19	11	4	1	1	0	1	1	0	2	2	2	2	2	6	3	2	2	6	0	0			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr19:17571713G>A	ENST00000301944.2	-	0	50					NM_138454.1	NP_612463.1	Q96CM4	NXNL1_HUMAN	nucleoredoxin-like 1						cell redox homeostasis	nuclear outer membrane				central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	6						ACAGCGCGGCGTGTGGTCCCC	0.562													9	27					0	0	1	0	0	A	17571713	G	A	17571713	1	1	23	1	0	0	0	0	0	0	0	0	10836	1160	40	1		1	NXNL1	19	17571713	Translation_Start_Site	SNP	G	TCGA-CH-5768-01A-11D-1576-08	4161689	17571713	41557270	60	1272											
TSHZ3	57616	broad.mit.edu	37	chr19	31769517	31769517	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctcctgcagggtgtcatgCgagctcccacactccatgca	8	8	10	15	1	1	0	1	0	0	0	4	1	4	0	3	1	5	4	3	1	0	0			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr19:31769517C>T	ENST00000240587.4	-	2	1509	c.1182G>A	c.(1180-1182)tcG>tcA	p.S394S		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	394					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S211S(1)|p.S394S(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GGGTGTCATGCGAGCTCCCAC	0.557													7	222					0	0	1	0	0	T	31769517	C	T	31769517	2	4	23	1	0	0	0	0	0	0	0	1	16686	755	27	1		1	TSHZ3	19	31769517	Silent	SNP	C	TCGA-CH-5768-01A-11D-1576-08	14197804	31769517	27359466	61	1273											
RABAC1	10567	broad.mit.edu	37	chr19	42463023	42463023	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggtccacgaaggtgctcCagggccggatggtcgcgcgg	5	6	18	12	5	0	0	0	0	0	0	3	2	2	1	3	6	1	2	3	6	1	0			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr19:42463023C>A	ENST00000222008.6	-	2	231	c.134G>T	c.(133-135)tGg>tTg	p.W45L	RABAC1_ENST00000601078.1_5'UTR|RABAC1_ENST00000601891.1_Missense_Mutation_p.W45L	NM_006423.2	NP_006414.2	Q9UI14	PRAF1_HUMAN	Rab acceptor 1 (prenylated)	45	Required for interaction with prenylated RAB3A and VAMP2 (By similarity).					cell junction|Golgi apparatus|integral to membrane|synaptic vesicle	identical protein binding	p.W45L(1)		central_nervous_system(1)|kidney(1)|prostate(1)	3						GAAGGTGCTCCAGGGCCGGAT	0.692													2	3					1	1	1	1	0	A	42463023	C	A	42463023	3	1	23	1	0	0	0	0	1	0	0	0	13012	595	21	4	439	4	RABAC1	19	42463023	Missense_Mutation	SNP	C	TCGA-CH-5768-01A-11D-1576-08	10693506	42463023	16665960	62	1274											
KLK3	354	broad.mit.edu	37	chr19	51361384	51361384	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcccacacccgctctacgaTatgagcctcctgaagaatcg	10	9	7	15	3	1	3	0	2	1	1	4	4	3	3	4	0	2	1	4	0	4	3			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr19:51361384T>G	ENST00000360617.3	+	3	306	c.306T>G	c.(304-306)gaT>gaG	p.D102E	KLK3_ENST00000597483.1_Intron|KLK3_ENST00000593997.1_Missense_Mutation_p.D102E|KLK3_ENST00000595952.1_Intron|KLK3_ENST00000326003.2_Missense_Mutation_p.D102E			P07288	KLK3_HUMAN	kallikrein-related peptidase 3	102	Peptidase S1.				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity	p.D102E(2)		breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		CGCTCTACGATATGAGCCTCC	0.577													27	33					0	0	1	0	0	G	51361384	T	G	51361384	3	3	23	1	0	0	0	0	1	0	0	0	8448	1403	49	5	320	5	KLK3	19	51361384	Missense_Mutation	SNP	T	TCGA-CH-5768-01A-11D-1576-08	8898361	51361384	7767599	63	1275											
PTPRH	5794	broad.mit.edu	37	chr19	55707952	55707952	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattccgtcccagatggtcGtgatggtggctgggtaggac	6	11	15	9	2	1	2	1	1	0	1	4	3	3	3	2	5	0	2	2	5	1	2	rs138080428	byFrequency	TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr19:55707952G>A	ENST00000376350.3	-	10	2217	c.2195C>T	c.(2194-2196)aCg>aTg	p.T732M	PTPRH_ENST00000263434.5_Missense_Mutation_p.T554M|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	732	Fibronectin type-III 8.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.T732M(2)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CCAGATGGTCGTGATGGTGGC	0.632													44	53					0	0	1	0	0	A	55707952	G	A	55707952	3	1	23	1	0	0	0	0	1	0	0	0	12855	1145	40	1	1196	1	PTPRH	19	55707952	Missense_Mutation	SNP	G	TCGA-CH-5768-01A-11D-1576-08	4346568	55707952	3421031	64	1276											
PCSK2	5126	broad.mit.edu	37	chr20	17462414	17462414	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccattttgctgagccggcGtccaagggatgacgactcca	8	9	12	12	3	0	2	0	2	0	0	3	4	3	3	4	2	2	1	4	2	1	2			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr20:17462414G>A	ENST00000262545.2	+	12	1931	c.1616G>A	c.(1615-1617)cGt>cAt	p.R539H	PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000377899.1_Missense_Mutation_p.R520H|PCSK2_ENST00000536609.1_Missense_Mutation_p.R504H	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	539					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	p.R539H(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTGAGCCGGCGTCCAAGGGAT	0.577													28	38					0	0	1	0	0	A	17462414	G	A	17462414	3	1	23	1	0	0	0	0	1	0	0	0	11648	1145	40	1	1662	1	PCSK2	20	17462414	Missense_Mutation	SNP	G	TCGA-CH-5768-01A-11D-1576-08		17462414	45563106	65	1277											
SFI1	9814	broad.mit.edu	37	chr22	31971261	31971261	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcactgtgctccagatatacTtctgtgactggcagcaggcc	8	11	10	12	0	2	2	1	1	1	1	3	2	3	2	2	2	3	3	2	2	2	3			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr22:31971261T>C	ENST00000432498.1	+	10	1360	c.967T>C	c.(967-969)Ttc>Ctc	p.F323L	SFI1_ENST00000443011.1_Missense_Mutation_p.F170L|SFI1_ENST00000400288.2_Missense_Mutation_p.F323L|SFI1_ENST00000400289.1_Missense_Mutation_p.F241L|SFI1_ENST00000443326.1_Missense_Mutation_p.F241L|SFI1_ENST00000414585.1_Missense_Mutation_p.F170L|SFI1_ENST00000540643.1_Missense_Mutation_p.F299L	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	323					G2/M transition of mitotic cell cycle	centriole|cytosol		p.F323L(1)		NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						CCAGATATACTTCTGTGACTG	0.547													3	94					0	0	1	0	0	C	31971261	T	C	31971261	3	2	23	1	0	0	0	0	1	0	0	0	14210	1609	56	3	1001	3	SFI1	22	31971261	Missense_Mutation	SNP	T	TCGA-CH-5768-01A-11D-1576-08		31971261	19333305	66	1278											
TXN2	25828	broad.mit.edu	37	chr22	36876770	36876770	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgttacagtcaggccaccagGactgcattgtggggtctgca	8	10	13	10	0	2	0	1	0	1	0	2	1	2	1	2	4	3	3	2	4	1	2			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chr22:36876770G>A	ENST00000216185.2	-	2	581	c.115C>T	c.(115-117)Cct>Tct	p.P39S	TXN2_ENST00000487725.1_5'UTR|TXN2_ENST00000416967.1_5'UTR|TXN2_ENST00000403313.1_Missense_Mutation_p.P39S			Q99757	THIOM_HUMAN	thioredoxin 2	39					cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	mitochondrion|nucleolus	electron carrier activity	p.P39S(1)		breast(1)|lung(1)|prostate(1)	3						AGGCCACCAGGACTGCATTGT	0.552													35	86					0	0	1	0	0	A	36876770	G	A	36876770	3	1	23	1	0	0	0	0	1	0	0	0	16853	1174	41	2	397	2	TXN2	22	36876770	Missense_Mutation	SNP	G	TCGA-CH-5768-01A-11D-1576-08	4905509	36876770	14427796	67	1279											
TEX11	0	broad.mit.edu	37	chrX	69844762	69844762	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaagctttttctgccacaaTttgttgtccattctaaaaag	12	15	5	9	0	2	0	0	0	2	0	3	0	3	0	2	0	2	2	2	0	5	6			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chrX:69844762T>C	ENST00000395889.2	-	20	1821	c.1666A>G	c.(1666-1668)Att>Gtt	p.I556V	TEX11_ENST00000374320.2_Missense_Mutation_p.I231V|TEX11_ENST00000374333.2_Missense_Mutation_p.I541V|TEX11_ENST00000344304.3_Missense_Mutation_p.I556V	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	556							protein binding	p.I541V(1)		breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					TCTGCCACAATTTGTTGTCCA	0.318													4	39					0	0	1	0	0	C	69844762	T	C	69844762	3	2	23	1	0	0	0	0	1	0	0	0	15833	1493	52	3	1204	3	TEX11	23	69844762	Missense_Mutation	SNP	T	TCGA-CH-5768-01A-11D-1576-08		69844762	85425798	68	1280											
DOCK11	139818	broad.mit.edu	37	chrX	117700566	117700566	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagcagccaaggaaaagccGagaacatcatggcaagtttg	15	6	11	9	1	1	1	1	0	0	1	1	3	1	2	2	2	4	3	2	2	6	2			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chrX:117700566G>T	ENST00000276204.6	+	9	975	c.901G>T	c.(901-903)Gag>Tag	p.E301*	DOCK11_ENST00000276202.7_Nonsense_Mutation_p.E301*			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	301					blood coagulation	cytosol	GTP binding	p.E301*(1)		breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						AGGAAAAGCCGAGAACATCAT	0.398													3	40					0.115264	0.122292	1	1	0	T	117700566	G	T	117700566	4	4	23	1	0	0	0	0	0	1	0	0	4713	1059	37	4	935	4	DOCK11	23	117700566	Nonsense_Mutation	SNP	G	TCGA-CH-5768-01A-11D-1576-08	47855804	117700566	37569994	69	1281											
SMARCA1	6594	broad.mit.edu	37	chrX	128599698	128599698	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aactgatgaaatggagccttGtatcttgcaatctgtgtatt	11	15	9	6	0	2	2	0	2	2	0	2	3	2	3	1	1	3	3	1	1	5	5			TCGA-CH-5768-01A-11D-1576-08	TCGA-CH-5768-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2aa9195-5cd4-4032-941e-90a1f724382c	5b3c1e73-475c-4b3b-a49a-0f11810c5223	g.chrX:128599698G>T	ENST00000371122.4	-	23	2958	c.2829C>A	c.(2827-2829)taC>taA	p.Y943*	SMARCA1_ENST00000371123.1_Nonsense_Mutation_p.Y931*|SMARCA1_ENST00000371121.3_Nonsense_Mutation_p.Y931*	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	943					ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding	p.Y943*(2)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						ATGGAGCCTTGTATCTTGCAA	0.328													69	20					2.79145e-41	3.23808e-41	1	1	0	T	128599698	G	T	128599698	4	4	23	1	0	0	0	0	0	1	0	0	14822	1372	48	4	343	4	SMARCA1	23	128599698	Nonsense_Mutation	SNP	G	TCGA-CH-5768-01A-11D-1576-08	10899132	128599698	26670862	70	1282											
CAMTA1	23261	broad.mit.edu	37	chr1	7723412	7723412	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgtgttccgatctccgcaGgagctggcggcagcgtgcat	5	10	15	11	4	1	0	0	0	1	0	3	2	2	1	2	3	3	6	2	3	0	2			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:7723412G>T	ENST00000303635.7	+	9	1012		c.e9-1		CAMTA1_ENST00000439411.2_Splice_Site	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	p.?(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GATCTCCGCAGGAGCTGGCGG	0.607			T	WWTR1	epitheliod hemangioendothelioma								52	246					7.71302e-15	8.63594e-15	1	1	0	T	7723412	G	T	7723412	5	4	24	1	0	0	0	0	0	0	1	0	2631	1014	35	4	839	4	CAMTA1	1	7723412	Splice_Site	SNP	G	TCGA-CH-5769-01A-11D-1576-08		7723412	241527209	1	1283											
PRDM2	7799	broad.mit.edu	37	chr1	14105677	14105677	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgatcatgaattcagagaagGcttcccaagacacaataaat	17	9	7	8	0	2	4	2	2	0	2	3	5	3	4	1	1	0	1	1	1	6	3	rs143566559	by1000genomes	TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:14105677G>A	ENST00000235372.7	+	8	2243	c.1387G>A	c.(1387-1389)Gct>Act	p.A463T	PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.A262T|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.A463T|PRDM2_ENST00000343137.4_Missense_Mutation_p.A262T	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	463						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A463T(1)		endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		TTCAGAGAAGGCTTCCCAAGA	0.418													7	70					0	0	1	0	0	A	14105677	G	A	14105677	3	1	24	1	0	0	0	0	1	0	0	0	12510	1203	42	2	1413	2	PRDM2	1	14105677	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08	6382265	14105677	235144944	2	1284											
UBR4	23352	broad.mit.edu	37	chr1	19467923	19467923	+	Frame_Shift_Del	DEL	G	G	-																															tcaggtgggatgtccagcatGggggggaagccctctgcgcc																								rs145307465		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:19467923delG	ENST00000375267.2	-	57	8409	c.8406delC	c.(8404-8406)ccfs	p.P2802fs	UBR4_ENST00000375226.2_Frame_Shift_Del_p.P2813fs|UBR4_ENST00000375217.2_Frame_Shift_Del_p.P2830fs|UBR4_ENST00000375254.3_Frame_Shift_Del_p.P2802fs			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2802					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TGTCCAGCATGGGGGGGAAGC	0.587													9	178	---	---	---	---						-	19467923	G	-	19467923	7	5	24	1	0	1	0	1	0	0	0	0	16965	1335	47	0	7345	0	UBR4	1	19467923	Frame_Shift_Del	DEL	G	TCGA-CH-5769-01A-11D-1576-08	5362246	19467923	229782698	3	1285											
BAI2	576	broad.mit.edu	37	chr1	32221807	32221807	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccgcaggccctgccggcagCgcggccacactcctcactcc	5	4	11	21	4	1	0	1	0	0	0	3	0	3	0	6	3	2	2	6	3	0	0			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:32221807C>T	ENST00000373658.3	-	4	972	c.631G>A	c.(631-633)Gct>Act	p.A211T	BAI2_ENST00000398542.1_Missense_Mutation_p.A199T|BAI2_ENST00000373655.2_Missense_Mutation_p.A211T|BAI2_ENST00000257070.4_Missense_Mutation_p.A211T|BAI2_ENST00000398547.1_Missense_Mutation_p.A199T|BAI2_ENST00000398538.1_Missense_Mutation_p.A199T|BAI2_ENST00000398556.3_Missense_Mutation_p.A214T|BAI2_ENST00000527361.1_Missense_Mutation_p.A211T	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	211					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A211T(1)		breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CTGCCGGCAGCGCGGCCACAC	0.647													9	86					0	0	1	0	0	T	32221807	C	T	32221807	3	4	24	1	0	0	0	0	1	0	0	0	1297	768	27	1	4246	1	BAI2	1	32221807	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08	12753884	32221807	217028814	4	1286											
BMP8B	656	broad.mit.edu	37	chr1	40228862	40228862	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggccgagtagccttggggagCgatgacccagtcctgggggg	6	6	19	10	2	0	1	0	1	0	0	1	4	1	2	4	6	2	1	4	6	1	2			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:40228862C>T	ENST00000372827.3	-	6	1336	c.961G>A	c.(961-963)Gct>Act	p.A321T	PPIE_ENST00000356511.2_Intron|PPIE_ENST00000372830.1_Intron	NM_001720.3	NP_001711.2	P34820	BMP8B_HUMAN	bone morphogenetic protein 8b	321					cartilage development|cell differentiation|growth|ossification	extracellular space	cytokine activity|growth factor activity			endometrium(1)|liver(1)|ovary(1)|urinary_tract(1)	4	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CCTTGGGGAGCGATGACCCAG	0.637													9	162					0	0	1	0	0	T	40228862	C	T	40228862	3	4	24	1	0	0	0	0	1	0	0	0	1466	768	27	1	255	1	BMP8B	1	40228862	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08	8007055	40228862	209021759	5	1287											
INADL	10207	broad.mit.edu	37	chr1	62393501	62393501	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaagatgcctttaccgacCgtgagtgccttttcactatt	10	13	8	10	2	1	3	1	1	0	2	1	4	1	3	4	0	3	0	4	0	4	6			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:62393501C>T	ENST00000371158.2	+	27	3784	c.3670_splice	c.e27+1	p.Q1224_splice	INADL_ENST00000316485.6_Splice_Site_p.Q1224_splice	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1224					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	p.Q1224*(1)|p.Q1224K(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						CTTTACCGACCGTGAGTGCCT	0.388													5	47					0	0	1	0	0	T	62393501	C	T	62393501	5	4	24	1	0	0	0	0	0	0	1	0	7775	666	23	1	3772	1	INADL	1	62393501	Splice_Site	SNP	C	TCGA-CH-5769-01A-11D-1576-08	22164639	62393501	186857120	6	1288											
KANK4	163782	broad.mit.edu	37	chr1	62740427	62740427	+	Frame_Shift_Del	DEL	G	G	-																															actcctgcttgttgaggcctGgggggcattaccaagcggtg																										TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:62740427delG	ENST00000371153.4	-	3	727	c.349delC	c.(349-351)agfs	p.Q117fs	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	117										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GTTGAGGCCTGGGGGGCATTA	0.607													15	53	---	---	---	---						-	62740427	G	-	62740427	7	5	24	1	0	1	0	1	0	0	0	0	8023	1357	47	0	2670	0	KANK4	1	62740427	Frame_Shift_Del	DEL	G	TCGA-CH-5769-01A-11D-1576-08	346926	62740427	186510194	7	1289											
GBP3	2635	broad.mit.edu	37	chr1	89480252	89480252	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagttggtccatagcctgctGgttgatggttcccatgctat	6	14	11	10	0	0	1	0	1	0	0	2	1	2	1	3	3	3	5	3	3	2	5			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:89480252G>A	ENST00000370481.4	-	4	626	c.406C>T	c.(406-408)Cag>Tag	p.Q136*		NM_018284.2	NP_060754.2	Q9H0R5	GBP3_HUMAN	guanylate binding protein 3	136						integral to membrane	GTP binding|GTPase activity	p.Q136*(1)		breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		ATAGCCTGCTGGTTGATGGTT	0.512													24	158					0	0	1	0	0	A	89480252	G	A	89480252	4	1	24	1	0	0	0	0	0	1	0	0	6315	1357	47	2	1413	2	GBP3	1	89480252	Nonsense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08	26739825	89480252	159770369	8	1290											
SARS	6301	broad.mit.edu	37	chr1	109772145	109772145	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agagcggtttgagaacctccGagagattgggaaccttctgc	10	9	13	9	2	1	3	0	1	1	3	2	7	2	4	3	2	4	1	3	2	2	3			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:109772145G>A	ENST00000369923.4	+	4	409	c.398G>A	c.(397-399)cGa>cAa	p.R133Q	SARS_ENST00000234677.2_Missense_Mutation_p.R133Q			P49591	SYSC_HUMAN	seryl-tRNA synthetase	133					seryl-tRNA aminoacylation|tRNA processing	cytosol	ATP binding|protein binding|RNA binding|serine-tRNA ligase activity	p.R133Q(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	GAGAACCTCCGAGAGATTGGG	0.532													41	407					0	0	1	0	0	A	109772145	G	A	109772145	3	1	24	1	0	0	0	0	1	0	0	0	13897	1058	37	1	412	1	SARS	1	109772145	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08	20291893	109772145	139478476	9	1291											
SV2A	0	broad.mit.edu	37	chr1	149885321	149885321	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accaccttcttggccgcatgCtttttgacttccttagcaat	7	15	6	13	1	1	1	0	1	1	0	2	1	2	1	4	1	2	3	4	1	2	6			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:149885321C>T	ENST00000369146.3	-	2	562	c.72G>A	c.(70-72)aaG>aaA	p.K24K	SV2A_ENST00000369145.1_Silent_p.K24K	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	24	Interaction with SYT1 (By similarity).				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	p.K24K(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	TGGCCGCATGCTTTTTGACTT	0.547													36	133					0	0	1	0	0	T	149885321	C	T	149885321	2	4	24	1	0	0	0	0	0	0	0	1	15473	796	28	2		2	SV2A	1	149885321	Silent	SNP	C	TCGA-CH-5769-01A-11D-1576-08	40113176	149885321	99365300	10	1292											
LAMC1	3915	broad.mit.edu	37	chr1	183106827	183106827	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccaccagcaccaaggcagaAgctgaaagaacttttgcaga	15	5	10	11	0	0	4	0	1	0	3	0	4	0	4	3	1	4	4	3	1	4	2			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:183106827A>C	ENST00000258341.4	+	26	4595	c.4338A>C	c.(4336-4338)gaA>gaC	p.E1446D		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	1446	Domain II and I.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	p.E1446D(2)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCAAGGCAGAAGCTGAAAGAA	0.373													8	66					0	0	1	0	0	C	183106827	A	C	183106827	3	2	24	1	0	0	0	0	1	0	0	0	8653	69	3	5	4440	5	LAMC1	1	183106827	Missense_Mutation	SNP	A	TCGA-CH-5769-01A-11D-1576-08	33221506	183106827	66143794	11	1293											
IVNS1ABP	10625	broad.mit.edu	37	chr1	185269161	185269161	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggggcacagcttgtccacaActttgttacaggatcaaata	13	10	9	9	0	1	0	1	0	0	0	2	1	2	1	1	3	3	3	1	3	4	4			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:185269161A>G	ENST00000367498.3	-	13	2093	c.1471T>C	c.(1471-1473)Ttg>Ctg	p.L491L	IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_Silent_p.L273L	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	491					interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex		p.L491L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						CTTGTCCACAACTTTGTTACA	0.353													10	58					0	0	1	0	0	G	185269161	A	G	185269161	2	3	24	1	0	0	0	0	0	0	0	1	7974	40	2	3		3	IVNS1ABP	1	185269161	Silent	SNP	A	TCGA-CH-5769-01A-11D-1576-08	2162334	185269161	63981460	12	1294											
TP53BP2	7159	broad.mit.edu	37	chr1	223985959	223985959	+	Frame_Shift_Del	DEL	C	C	-																															ggtatgagtcttggtcaacgCgctctgcacagcctgctgga																										TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:223985959delC	ENST00000391878.2	-	13	2287	c.1519delG	c.(1519-1521)cgfs	p.A507fs	TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000343537.7_Frame_Shift_Del_p.A636fs|TP53BP2_ENST00000391879.2_Intron	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2	630					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		TTGGTCAACGCGCTCTGCACA	0.478													9	241	---	---	---	---						-	223985959	C	-	223985959	7	5	24	1	0	1	0	1	0	0	0	0	16445	768	27	0	1526	0	TP53BP2	1	223985959	Frame_Shift_Del	DEL	C	TCGA-CH-5769-01A-11D-1576-08	38716798	223985959	25264662	13	1295											
WNT9A	7483	broad.mit.edu	37	chr1	228111994	228111994	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acggttctccaggtcgggtgCctcatcgcaggtacagcgct	6	9	13	13	4	2	0	1	0	1	0	5	0	2	0	2	4	3	4	2	4	1	2			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:228111994C>T	ENST00000272164.5	-	3	470	c.460G>A	c.(460-462)Gca>Aca	p.A154T	WNT9A_ENST00000497852.1_5'UTR	NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	154					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity	p.A154T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				AGGTCGGGTGCCTCATCGCAG	0.642													30	178					0	0	1	0	0	T	228111994	C	T	228111994	3	4	24	1	0	0	0	0	1	0	0	0	17458	739	26	2	645	2	WNT9A	1	228111994	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08	4126035	228111994	21138627	14	1296											
OBSCN	84033	broad.mit.edu	37	chr1	228456388	228456388	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttccagctcgaaagtgcgCgtggaggccgtgggctgcac	7	7	16	11	4	0	0	0	0	0	0	2	2	1	1	2	3	3	4	2	3	1	1			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:228456388C>T	ENST00000570156.2	+	19	5645	c.5571C>T	c.(5569-5571)cgC>cgT	p.R1857R	OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Silent_p.R1673R|OBSCN_ENST00000284548.11_Silent_p.R1673R|OBSCN_ENST00000359599.6_Silent_p.R329R|OBSCN_ENST00000366707.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	845	Ig-like 18.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.R1673R(1)|p.R1765R(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CGAAAGTGCGCGTGGAGGCCG	0.682													16	154					0	0	1	0	0	T	228456388	C	T	228456388	2	4	24	1	0	0	0	0	0	0	0	1	10860	755	27	1		1	OBSCN	1	228456388	Silent	SNP	C	TCGA-CH-5769-01A-11D-1576-08	344394	228456388	20794233	15	1297											
DISC1	27185	broad.mit.edu	37	chr1	231830155	231830155	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctttattcggctctcgctTggctctgccggggaacgtgg	4	12	14	11	4	2	0	0	0	2	0	4	1	2	1	1	5	3	4	1	5	2	4			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:231830155T>C	ENST00000439617.2	+	2	704	c.651T>C	c.(649-651)ctT>ctC	p.L217L	DISC1_ENST00000366636.4_Silent_p.L217L|DISC1_ENST00000366633.3_Silent_p.L217L|DISC1_ENST00000602281.1_Silent_p.L217L|DISC1_ENST00000317586.4_Silent_p.L217L|TRAX_ENST00000602962.1_3'UTR|DISC1_ENST00000537876.1_Silent_p.L217L|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000535983.1_Silent_p.L217L|DISC1_ENST00000539444.1_Silent_p.L217L|DISC1_ENST00000366637.3_5'UTR	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	217	Interaction with MAP1A.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				GGCTCTCGCTTGGCTCTGCCG	0.617													10	87					0	0	1	0	0	C	231830155	T	C	231830155	2	2	24	1	0	0	0	0	0	0	0	1	4566	1799	63	3		3	DISC1	1	231830155	Silent	SNP	T	TCGA-CH-5769-01A-11D-1576-08	3373767	231830155	17420466	16	1298											
OR2M7	391196	broad.mit.edu	37	chr1	248487570	248487570	+	Frame_Shift_Del	DEL	T	T	-																															caatgatatatagaagaaaaTttgtgtggcacagccagcca																										TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr1:248487570delT	ENST00000317965.2	-	1	329	c.301delA	c.(301-303)ttfs	p.I101fs		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TAGAAGAAAATTTGTGTGGCA	0.468													9	513	---	---	---	---						-	248487570	T	-	248487570	7	5	24	1	0	1	0	1	0	0	0	0	11062	1493	52	0	640	0	OR2M7	1	248487570	Frame_Shift_Del	DEL	T	TCGA-CH-5769-01A-11D-1576-08	16657415	248487570	763051	17	1299											
MYT1L	23040	broad.mit.edu	37	chr2	1926178	1926178	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	attgtccctcctcccagcttCcatggccatcttctccctca	5	13	4	19	0	3	0	1	0	2	0	8	0	7	0	6	1	1	1	6	1	0	3			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr2:1926178C>T	ENST00000399161.2	-	10	2110	c.1363G>A	c.(1363-1365)Gaa>Aaa	p.E455K	MYT1L_ENST00000428368.2_Missense_Mutation_p.E455K	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	455					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E455K(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CTCCCAGCTTCCATGGCCATC	0.532													32	207					0	0	1	0	0	T	1926178	C	T	1926178	3	4	24	1	0	0	0	0	1	0	0	0	10155	864	30	2	2255	2	MYT1L	2	1926178	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08		1926178	241273195	18	1300											
THADA	63892	broad.mit.edu	37	chr2	43458187	43458187	+	Frame_Shift_Del	DEL	A	A	-																															cttccccttcctttccttccAaaaaggccagcagcctcaag																										TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr2:43458187delA	ENST00000405006.4	-	38	6113	c.5762delT	c.(5761-5763)tgfs	p.L1921fs	AC010883.5_ENST00000423354.1_RNA|THADA_ENST00000415080.2_Frame_Shift_Del_p.L1602fs|THADA_ENST00000405975.2_Frame_Shift_Del_p.L1921fs|THADA_ENST00000330266.7_Intron	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1921							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CTTTCCTTCCAAAAAGGCCAG	0.488													7	78	---	---	---	---						-	43458187	A	-	43458187	7	5	24	1	0	1	0	1	0	0	0	0	15900	131	5	0	103	0	THADA	2	43458187	Frame_Shift_Del	DEL	A	TCGA-CH-5769-01A-11D-1576-08	41532009	43458187	199741186	19	1301											
BCL11A	53335	broad.mit.edu	37	chr2	60688396	60688396	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgctgcatggagctgagcaCcatgccctgcatgacgtcgg	7	8	14	12	2	0	2	0	2	0	0	1	3	0	3	2	2	6	5	2	2	0	0			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr2:60688396C>T	ENST00000335712.6	-	4	1878	c.1651G>A	c.(1651-1653)Gtg>Atg	p.V551M	BCL11A_ENST00000356842.4_Missense_Mutation_p.V551M|BCL11A_ENST00000358510.4_Missense_Mutation_p.V517M|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000538214.1_Missense_Mutation_p.V517M|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000537768.1_Missense_Mutation_p.V220M	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	551					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	p.V551M(3)		NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GAGCTGAGCACCATGCCCTGC	0.716			T	IGH@	B-CLL								4	43					0	0	1	0	0	T	60688396	C	T	60688396	3	4	24	1	0	0	0	0	1	0	0	0	1361	507	18	2	966	2	BCL11A	2	60688396	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08	17230209	60688396	182510977	20	1302											
TBC1D8	11138	broad.mit.edu	37	chr2	101656775	101656775	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgaacagtccacaaccgcGtgcagcttctccttcctcgg	8	8	9	16	4	1	0	0	0	1	0	5	1	3	0	4	1	5	2	4	1	2	2			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr2:101656775G>A	ENST00000409318.1	-	6	1075	c.945C>T	c.(943-945)caC>caT	p.H315H	TBC1D8_ENST00000376840.4_Silent_p.H300H	NM_001102426.1	NP_001095896.1	O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	300	GRAM 2.				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity	p.H300H(1)|p.H315H(1)		breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						CCACAACCGCGTGCAGCTTCT	0.577													17	45					0	0	1	0	0	A	101656775	G	A	101656775	2	1	24	1	0	0	0	0	0	0	0	1	15685	1136	40	1		1	TBC1D8	2	101656775	Silent	SNP	G	TCGA-CH-5769-01A-11D-1576-08	40968379	101656775	141542598	21	1303											
IL1F10	84639	broad.mit.edu	37	chr2	113832281	113832282	+	Frame_Shift_Del	DEL	TC	TC	-																															ttcccttgtcccttgactctTctctctcttccctcctagag																										TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr2:113832281_113832282delTC	ENST00000337569.3	+	3	175_176	c.100_101delTC	c.(100-102)tfs	p.S34fs	IL1F10_ENST00000393197.2_Intron|IL1F10_ENST00000341010.2_Intron			Q8WWZ1	IL1FA_HUMAN	interleukin 1 family, member 10 (theta)	34						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			endometrium(1)|lung(6)|ovary(1)	8						CCTTGACTCTTCTCTCTCTTCC	0.584													16	321	---	---	---	---						-	113832282	TC	-	113832281	7	5	24	1	0	1	0	1	0	0	0	0	7696	1798	62	0		0	IL1F10	2	113832281	Frame_Shift_Del	DEL	TC	TCGA-CH-5769-01A-11D-1576-08	12175506	113832281	129367092	22	1304											
ARHGAP15	55843	broad.mit.edu	37	chr2	144381770	144381770	+	Frame_Shift_Del	DEL	T	T	-																															tcaccggagcactgaagatgTttttccgggagctgcctgag																										TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr2:144381770delT	ENST00000295095.6	+	12	1239	c.1072delT	c.(1072-1074)ttfs	p.F359fs		NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	359	Rho-GAP.				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		ACTGAAGATGTTTTTCCGGGA	0.502													15	87	---	---	---	---						-	144381770	T	-	144381770	7	5	24	1	0	1	0	1	0	0	0	0	863	1725	60	0	1114	0	ARHGAP15	2	144381770	Frame_Shift_Del	DEL	T	TCGA-CH-5769-01A-11D-1576-08	30549489	144381770	98817603	23	1305											
UBR3	130507	broad.mit.edu	37	chr2	170938348	170938348	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggtccacattacaatgggCtgtgactctccacctcagca	9	9	10	13	0	2	1	1	1	1	0	4	1	3	1	3	3	2	2	3	3	2	1			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr2:170938348C>T	ENST00000272793.5	+	39	5712	c.5662C>T	c.(5662-5664)Ctg>Ttg	p.L1888L	UBR3_ENST00000418381.1_Silent_p.L1888L|UBR3_ENST00000392631.1_Silent_p.L709L			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1888					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding	p.L741L(1)|p.L1888L(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						TTACAATGGGCTGTGACTCTC	0.358													8	113					0	0	1	0	0	T	170938348	C	T	170938348	2	4	24	1	0	0	0	0	0	0	0	1	16964	796	28	2		2	UBR3	2	170938348	Silent	SNP	C	TCGA-CH-5769-01A-11D-1576-08	26556578	170938348	72261025	24	1306											
TLK1	9874	broad.mit.edu	37	chr2	171863509	171863509	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttttctttcttctcatctCtccagcttttattaagctga	7	20	4	10	0	4	1	1	1	4	0	7	1	5	1	1	0	2	3	1	0	2	7			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr2:171863509C>A	ENST00000442919.2	-	15	1952	c.1337G>T	c.(1336-1338)aGa>aTa	p.R446I	TLK1_ENST00000434911.2_Missense_Mutation_p.R398I|TLK1_ENST00000521943.1_Missense_Mutation_p.R446I|TLK1_ENST00000360843.3_Missense_Mutation_p.R515I|TLK1_ENST00000431350.2_Missense_Mutation_p.R494I	NM_012290.4	NP_036422.3	Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	494					cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						CTTCTCATCTCTCCAGCTTTT	0.294													6	60					3.59834e-05	3.77106e-05	1	1	0	A	171863509	C	A	171863509	3	1	24	1	0	0	0	0	1	0	0	0	16003	913	32	4	847	4	TLK1	2	171863509	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08	925161	171863509	71335864	25	1307											
COL6A3	1293	broad.mit.edu	37	chr2	238274526	238274526	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccaccactgacacacgcaCggtgggcgagcggccaccgc	8	2	14	17	5	0	1	0	1	0	0	0	2	0	1	4	4	1	1	4	4	0	0			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr2:238274526C>T	ENST00000295550.4	-	12	6105	c.5653G>A	c.(5653-5655)Gtg>Atg	p.V1885M	COL6A3_ENST00000472056.1_Missense_Mutation_p.V1278M|COL6A3_ENST00000409809.1_Missense_Mutation_p.V1679M|COL6A3_ENST00000353578.4_Missense_Mutation_p.V1679M|COL6A3_ENST00000347401.3_Missense_Mutation_p.V1684M|COL6A3_ENST00000346358.4_Missense_Mutation_p.V1685M	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1885	Nonhelical region.|VWFA 10.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.V1885M(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GACACACGCACGGTGGGCGAG	0.612													19	153					0	0	1	0	0	T	238274526	C	T	238274526	3	4	24	1	0	0	0	0	1	0	0	0	3724	536	19	1	4012	1	COL6A3	2	238274526	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08	66411017	238274526	4924847	26	1308											
ALS2CL	259173	broad.mit.edu	37	chr3	46724745	46724745	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggctccaggccagccccCagcacggggaagtccttctt	7	6	13	15	1	1	0	0	0	1	0	3	2	3	1	5	4	2	2	5	4	1	2			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr3:46724745C>A	ENST00000318962.4	-	10	1067	c.984G>T	c.(982-984)ctG>ctT	p.L328L	ALS2CL_ENST00000415953.1_Silent_p.L328L	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	328					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		GGCCAGCCCCCAGCACGGGGA	0.672													3	22					0.004672	0.00481915	1	1	0	A	46724745	C	A	46724745	2	1	24	1	0	0	0	0	0	0	0	1	547	581	21	4		4	ALS2CL	3	46724745	Silent	SNP	C	TCGA-CH-5769-01A-11D-1576-08		46724745	151297685	27	1309											
MST1R	4486	broad.mit.edu	37	chr3	49940112	49940112	+	Frame_Shift_Del	DEL	C	C	-																															gggctgtccgccttctggggCcccccggcgcctgcgttttg																										TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr3:49940112delC	ENST00000296474.3	-	1	958	c.931delG	c.(931-933)ccfs	p.A311fs	CTD-2330K9.2_ENST00000435478.1_RNA|MST1R_ENST00000344206.4_Frame_Shift_Del_p.A311fs	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	311	Sema.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CCTTCTGGGGCCCCCCGGCGC	0.667													8	343	---	---	---	---						-	49940112	C	-	49940112	7	5	24	1	0	1	0	1	0	0	0	0	9939	739	26	0	3351	0	MST1R	3	49940112	Frame_Shift_Del	DEL	C	TCGA-CH-5769-01A-11D-1576-08	3215367	49940112	148082318	28	1310											
APPL1	26060	broad.mit.edu	37	chr3	57303570	57303570	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttgtcttttccactaggActtggaagaacaaagtcggt	10	15	9	7	1	1	1	0	0	1	1	3	3	2	3	1	3	1	0	1	3	4	6			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr3:57303570A>T	ENST00000288266.3	+	22	2132	c.1983_splice	c.e22-1	p.D662_splice	ASB14_ENST00000487349.1_3'UTR|ASB14_ENST00000389601.3_3'UTR	NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	662					apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding	p.D662V(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		TTCCACTAGGACTTGGAAGAA	0.423													7	102					0	0	1	0	0	T	57303570	A	T	57303570	5	4	24	1	0	0	0	0	0	0	1	0	814	289	10	5	2071	5	APPL1	3	57303570	Splice_Site	SNP	A	TCGA-CH-5769-01A-11D-1576-08	7363458	57303570	140718860	29	1311											
PLD1	5337	broad.mit.edu	37	chr3	171427351	171427351	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagagaaataataacttaccAtttagctaaagcattctctt	16	14	4	7	0	1	1	0	0	1	1	2	2	1	1	1	0	4	2	1	0	8	9			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr3:171427351A>G	ENST00000356327.5	-	10	1130	c.1061_splice	c.e10+1	p.W354_splice	PLD1_ENST00000342215.6_Splice_Site_p.W354_splice|PLD1_ENST00000340989.4_Splice_Site_p.W354_splice|PLD1_ENST00000351298.4_Splice_Site_p.W354_splice	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	354					cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	p.W354R(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	ATAACTTACCATTTAGCTAAA	0.378													10	106					0	0	1	0	0	G	171427351	A	G	171427351	5	3	24	1	0	0	0	0	0	0	1	0	12093	231	8	3	2236	3	PLD1	3	171427351	Splice_Site	SNP	A	TCGA-CH-5769-01A-11D-1576-08	114123781	171427351	26595079	30	1312											
ST6GAL1	6480	broad.mit.edu	37	chr3	186793469	186793469	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcgatagtgcctgcacgatgGgtgcctaccacccgctgctc	6	9	11	15	3	0	0	0	0	0	0	2	2	0	0	4	1	5	3	4	1	2	2			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr3:186793469G>T	ENST00000169298.3	+	8	1773	c.1099G>T	c.(1099-1101)Ggt>Tgt	p.G367C	ST6GAL1_ENST00000457772.2_Missense_Mutation_p.G136C|ST6GAL1_ENST00000448044.1_Missense_Mutation_p.G367C	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	367					humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		CTGCACGATGGGTGCCTACCA	0.517													5	65					0.0215528	0.0218869	1	1	0	T	186793469	G	T	186793469	3	4	24	1	0	0	0	0	1	0	0	0	15277	1232	43	4	1117	4	ST6GAL1	3	186793469	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08	15366118	186793469	11228961	31	1313											
MFSD7	84179	broad.mit.edu	37	chr4	680048	680048	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaccatgcagggcaccatgCgtagcacactcccggcaaag	12	4	10	15	2	0	0	0	0	0	0	1	0	1	0	3	2	4	5	3	2	3	1	rs138706049		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr4:680048C>T	ENST00000322224.4	-	3	651	c.338G>A	c.(337-339)cGc>cAc	p.R113H	MFSD7_ENST00000515118.1_Intron|MFSD7_ENST00000513740.1_Intron|MFSD7_ENST00000347950.5_Intron|MFSD7_ENST00000404286.2_Missense_Mutation_p.R113H|MFSD7_ENST00000503156.1_Missense_Mutation_p.R49H			Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing 7	113					transmembrane transport	integral to membrane		p.R113H(1)		cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						GGGCACCATGCGTAGCACACT	0.627													8	80					0	0	1	0	0	T	680048	C	T	680048	3	4	24	1	0	0	0	0	1	0	0	0	9587	768	27	1	1373	1	MFSD7	4	680048	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08		680048	190474228	32	1314											
ENAM	10117	broad.mit.edu	37	chr4	71509665	71509666	+	Frame_Shift_Ins	INS	-	-	AG																															ataactaggatgaattctccINSagagagagaacattcatctt																										TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr4:71509665_71509666insAG	ENST00000396073.3	+	9	2803_2804	c.2522_2523insAG	c.(2521-2523)cgafs	p.R841fs	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	841					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			ATGAATTCTCCAGAGAGAGAAC	0.421													15	145	---	---	---	---						AG	71509666	-	AG	71509665	7	5	24	1	0	1	1	0	0	0	0	0	5140	594	21	0	2552	0	ENAM	4	71509665	Frame_Shift_Ins	INS	-	TCGA-CH-5769-01A-11D-1576-08	70829617	71509665	119644611	33	1315											
TET2	54790	broad.mit.edu	37	chr4	106158589	106158589	+	Frame_Shift_Del	DEL	T	T	-																															cagatatgggattttccttcTttttttaaatcttgagtctg																										TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr4:106158589delT	ENST00000305737.2	+	3	3894	c.3490delT	c.(3490-3492)ttfs	p.F1165fs	TET2_ENST00000413648.2_Intron|TET2_ENST00000394764.1_Frame_Shift_Del_p.F1165fs|TET2_ENST00000540549.1_Intron|TET2_ENST00000545826.1_Intron|TET2_ENST00000380013.4_Intron|TET2_ENST00000513237.1_Intron	NM_017628.4	NP_060098.3	Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	0					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		ATTTTCCTTCTTTTTTTAAAT	0.368			"Mis N, F"		MDS								8	92	---	---	---	---						-	106158589	T	-	106158589	7	5	24	1	0	1	0	1	0	0	0	0	15829	1609	56	0	3492	0	TET2	4	106158589	Frame_Shift_Del	DEL	T	TCGA-CH-5769-01A-11D-1576-08	34648924	106158589	84995687	34	1316											
SEC24B	10427	broad.mit.edu	37	chr4	110447421	110447421	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcacggtaacttctttgtccGttctactgatttgttatccc	6	18	6	11	2	3	1	1	1	2	0	5	1	5	1	2	1	2	3	2	1	3	7			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr4:110447421G>A	ENST00000265175.5	+	17	2886	c.2831G>A	c.(2830-2832)cGt>cAt	p.R944H	SEC24B_ENST00000504968.2_Missense_Mutation_p.R974H|SEC24B_ENST00000399100.2_Missense_Mutation_p.R909H	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	944					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding	p.R944H(1)|p.R909H(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		TTCTTTGTCCGTTCTACTGAT	0.358													9	124					0	0	1	0	0	A	110447421	G	A	110447421	3	1	24	1	0	0	0	0	1	0	0	0	14049	1145	40	1	2897	1	SEC24B	4	110447421	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08	4288832	110447421	80706855	35	1317											
LRIT3	345193	broad.mit.edu	37	chr4	110791704	110791704	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttatcttaccattgatttGtttcttgttgtacaaagttt	8	22	6	5	0	2	1	0	1	2	0	2	1	2	1	1	0	2	5	1	0	4	9			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr4:110791704G>C	ENST00000327908.3	+	4	2014	c.1250G>C	c.(1249-1251)tGt>tCt	p.C417S	LRIT3_ENST00000594814.1_Missense_Mutation_p.C600S|LRIT3_ENST00000379920.3_Missense_Mutation_p.C555S|LRIT3_ENST00000409621.2_Missense_Mutation_p.C417S			Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	555						integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		CCATTGATTTGTTTCTTGTTG	0.383													7	101					0	0	1	0	0	C	110791704	G	C	110791704	3	2	24	1	0	0	0	0	1	0	0	0	8994	1377	48	4	1674	4	LRIT3	4	110791704	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08	344283	110791704	80362572	36	1318											
AGA	175	broad.mit.edu	37	chr4	178352896	178352896	+	Frame_Shift_Del	DEL	T	T	-																															ctttttcctcagttggctgaTttttttcggaattataaacc																										TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr4:178352896delT	ENST00000264595.2	-	9	1134	c.1007delA	c.(1006-1008)atfs	p.N336fs		NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN	aspartylglucosaminidase	336					asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation	endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		AGTTGGCTGATTTTTTTCGGA	0.368													8	89	---	---	---	---						-	178352896	T	-	178352896	7	5	24	1	0	1	0	1	0	0	0	0	364	1493	52	0	37	0	AGA	4	178352896	Frame_Shift_Del	DEL	T	TCGA-CH-5769-01A-11D-1576-08	67561192	178352896	12801380	37	1319											
PCDHA2	0	broad.mit.edu	37	chr5	140176233	140176233	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggacgagaacgacaacGcgccggcactgttggcgcct	8	6	14	13	6	0	1	0	0	0	1	0	4	0	2	2	3	3	3	2	3	2	1			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr5:140176233G>A	ENST00000526136.1	+	1	1684	c.1684G>A	c.(1684-1686)Gcg>Acg	p.A562T	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.A562T|PCDHA2_ENST00000520672.2_Missense_Mutation_p.A562T	NM_018905.2	NP_061728.1												p.A562T(4)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAACGACAACGCGCCGGCACT	0.697													13	216					0	0	1	0	0	A	140176233	G	A	140176233	3	1	24	1	0	0	0	0	1	0	0	0	11571	1087	38	1	1686	1	PCDHA2	5	140176233	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08		140176233	40739027	38	1320											
PCDHA13	0	broad.mit.edu	37	chr5	140263967	140263967	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacttgatcattgccatctGcgcggtgtccagcctgttgg	5	14	11	11	2	2	1	1	1	1	0	3	1	3	1	3	2	4	1	3	2	1	4			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr5:140263967G>A	ENST00000289272.2	+	1	2114	c.2114G>A	c.(2113-2115)tGc>tAc	p.C705Y	PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.C705Y|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTGCCATCTGCGCGGTGTCC	0.662													12	204					0	0	1	0	0	A	140263967	G	A	140263967	3	1	24	1	0	0	0	0	1	0	0	0	11570	1319	46	2	2116	2	PCDHA13	5	140263967	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08	87734	140263967	40651293	39	1321											
PHF3	23469	broad.mit.edu	37	chr6	64415953	64415953	+	Frame_Shift_Del	DEL	A	A	-																															cctgtagatgatctttctccAaaaaaagtaaaagttgttgt																										TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr6:64415953delA	ENST00000262043.3	+	12	3742	c.3402delA	c.(3400-3402)ccfs	p.P1134fs	PHF3_ENST00000393387.1_Frame_Shift_Del_p.P1134fs			Q92576	PHF3_HUMAN	PHD finger protein 3	1134					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			ATCTTTCTCCAAAAAAAGTAA	0.358													7	61	---	---	---	---						-	64415953	A	-	64415953	7	5	24	1	0	1	0	1	0	0	0	0	11884	117	5	0	3444	0	PHF3	6	64415953	Frame_Shift_Del	DEL	A	TCGA-CH-5769-01A-11D-1576-08		64415953	106699114	40	1322											
FILIP1	27145	broad.mit.edu	37	chr6	76022502	76022502	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcaatctcagctggtgctgCtgatgtagacaccgtcatta	9	12	10	10	1	2	2	2	1	1	1	3	2	2	2	1	1	4	5	1	1	3	2			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr6:76022502C>T	ENST00000393004.2	-	5	3267	c.3046G>A	c.(3046-3048)Gca>Aca	p.A1016T	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.A1016T|FILIP1_ENST00000370020.1_Missense_Mutation_p.A917T			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	1016								p.A1016T(1)		breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GCTGGTGCTGCTGATGTAGAC	0.488													27	187					0	0	1	0	0	T	76022502	C	T	76022502	3	4	24	1	0	0	0	0	1	0	0	0	5927	797	28	2	603	2	FILIP1	6	76022502	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08	11606549	76022502	95092565	41	1323											
GABRR1	2569	broad.mit.edu	37	chr6	89891738	89891738	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caagaagaagaagatgtggcGacgcaacgtgaaattaatgt	17	7	12	5	3	0	5	0	1	0	4	0	6	0	5	0	1	1	1	0	1	7	1			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr6:89891738G>A	ENST00000435811.1	-	7	1238	c.784C>T	c.(784-786)Cgc>Tgc	p.R262C	GABRR1_ENST00000454853.2_Missense_Mutation_p.R279C|GABRR1_ENST00000369451.3_Missense_Mutation_p.R192C	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	279					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.R279C(1)|p.R273C(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	AAGATGTGGCGACGCAACGTG	0.488													11	167					0	0	1	0	0	A	89891738	G	A	89891738	3	1	24	1	0	0	0	0	1	0	0	0	6211	1058	37	1	616	1	GABRR1	6	89891738	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08	13869236	89891738	81223329	42	1324											
KIF25	0	broad.mit.edu	37	chr6	168443358	168443358	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgtggccatgccccgtaccGgaacagcaggctcacccacc	8	4	10	19	3	1	0	1	0	0	0	1	1	1	1	7	3	4	3	7	3	2	1			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr6:168443358G>A	ENST00000443060.2	+	9	1338	c.947G>A	c.(946-948)cGg>cAg	p.R316Q	KIF25_ENST00000351261.3_Intron|KIF25_ENST00000354419.2_Missense_Mutation_p.R316Q			Q9UIL4	KIF25_HUMAN	kinesin family member 25	316					microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	p.R316Q(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GCCCCGTACCGGAACAGCAGG	0.652													7	157					0	0	1	0	0	A	168443358	G	A	168443358	3	1	24	1	0	0	0	0	1	0	0	0	8335	1116	39	1	973	1	KIF25	6	168443358	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08	78551620	168443358	2671709	43	1325											
CYTH3	9265	broad.mit.edu	37	chr7	6210514	6210514	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgatgccgcggttcatggCgatgaaccgttctgccgtgg	5	11	15	10	5	2	2	1	2	1	0	2	3	2	2	3	3	3	3	3	3	1	3			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr7:6210514C>T	ENST00000350796.3	-	8	794	c.658G>A	c.(658-660)Gcc>Acc	p.A220T	CYTH3_ENST00000396741.2_Missense_Mutation_p.A135T|CYTH3_ENST00000488964.1_5'UTR	NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN	cytohesin 3	220					regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|membrane fraction|plasma membrane	1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						CGGTTCATGGCGATGAACCGT	0.637													7	32					0	0	1	0	0	T	6210514	C	T	6210514	3	4	24	1	0	0	0	0	1	0	0	0	4228	768	27	1	565	1	CYTH3	7	6210514	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08		6210514	152928149	44	1326											
DDX56	54606	broad.mit.edu	37	chr7	44612025	44612025	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagaaaagcctggtaaatcCggggcaagtgactgaaatga	15	7	13	6	1	0	4	0	4	0	1	1	5	1	4	2	3	1	2	2	3	6	1	rs140918826		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr7:44612025C>T	ENST00000258772.5	-	5	672	c.566G>A	c.(565-567)cGg>cAg	p.R189Q	DDX56_ENST00000431640.1_Missense_Mutation_p.R189Q|DDX56_ENST00000485367.1_5'UTR	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 56	189	Helicase ATP-binding.				rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						CTGGTAAATCCGGGGCAAGTG	0.493													5	66					0	0	1	0	0	T	44612025	C	T	44612025	3	4	24	1	0	0	0	0	1	0	0	0	4397	652	23	1	1117	1	DDX56	7	44612025	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08	38401511	44612025	114526638	45	1327											
VKORC1L1	154807	broad.mit.edu	37	chr7	65419190	65419190	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcatcatctgcatcgtcaCgtacgtgctgaacttccttc	7	13	7	14	3	3	1	2	1	1	0	6	1	4	1	1	0	5	4	1	0	2	3			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr7:65419190C>T	ENST00000360768.3	+	3	539	c.434C>T	c.(433-435)aCg>aTg	p.T145M	VKORC1L1_ENST00000434382.2_Silent_p.H108H	NM_173517.3	NP_775788.2	Q8N0U8	VKORL_HUMAN	vitamin K epoxide reductase complex, subunit 1-like 1	145						integral to membrane		p.H108H(1)|p.T145M(1)		large_intestine(1)|prostate(1)	2		Lung NSC(55;0.197)			Menadione(DB00170)|Warfarin(DB00682)	TGCATCGTCACGTACGTGCTG	0.512													15	118					0	0	1	0	0	T	65419190	C	T	65419190	3	4	24	1	0	0	0	0	1	0	0	0	17233	536	19	1	444	1	VKORC1L1	7	65419190	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08	20807165	65419190	93719473	46	1328											
PON2	5445	broad.mit.edu	37	chr7	95041699	95041699	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgactgattcttaattcccGtgcccttggtttttcttctt	5	19	6	11	2	3	1	0	1	3	0	4	2	4	1	2	1	1	1	2	1	1	8			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr7:95041699G>A	ENST00000536183.1	-	4	538	c.355C>T	c.(355-357)Cgg>Tgg	p.R119W	PON2_ENST00000222572.3_Missense_Mutation_p.R98W|PON2_ENST00000433091.2_Missense_Mutation_p.R98W	NM_000305.2	NP_000296.2	Q15165	PON2_HUMAN	paraoxonase 2	98					aromatic compound catabolic process	extracellular region|plasma membrane	arylesterase activity|identical protein binding|metal ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		STAD - Stomach adenocarcinoma(171;0.0151)			CTTAATTCCCGTGCCCTTGGT	0.438													5	85					0	0	1	0	0	A	95041699	G	A	95041699	3	1	24	1	0	0	0	0	1	0	0	0	12297	1144	40	1	796	1	PON2	7	95041699	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08	29622509	95041699	64096964	47	1329											
ASB4	51666	broad.mit.edu	37	chr7	95157409	95157409	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actttaaatctcccctccacAaggcagcctggaactgtgac	11	9	7	14	0	1	1	0	1	1	0	3	2	2	2	4	2	2	1	4	2	4	2			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr7:95157409A>G	ENST00000325885.5	+	3	843	c.772A>G	c.(772-774)Aag>Gag	p.K258E	ASB4_ENST00000428113.1_Missense_Mutation_p.K258E	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	258					intracellular signal transduction			p.K258E(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			TCCCCTCCACAAGGCAGCCTG	0.557											OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	99					0	0	1	0	0	G	95157409	A	G	95157409	3	3	24	1	0	0	0	0	1	0	0	0	1024	131	5	3	782	3	ASB4	7	95157409	Missense_Mutation	SNP	A	TCGA-CH-5769-01A-11D-1576-08	115710	95157409	63981254	48	1330											
OR2A25	392138	broad.mit.edu	37	chr7	143771567	143771567	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagatgctggtgaacctcctGcatccagccaagcccatctc	9	8	8	16	0	1	2	0	1	1	1	4	2	3	2	5	1	5	2	5	1	2	0			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr7:143771567G>A	ENST00000408898.2	+	1	293	c.255G>A	c.(253-255)ctG>ctA	p.L85L		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L85L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					TGAACCTCCTGCATCCAGCCA	0.552													7	122					0	0	1	0	0	A	143771567	G	A	143771567	2	1	24	1	0	0	0	0	0	0	0	1	11026	1306	46	2		2	OR2A25	7	143771567	Silent	SNP	G	TCGA-CH-5769-01A-11D-1576-08	48614158	143771567	15367096	49	1331											
DLGAP2	9228	broad.mit.edu	37	chr8	1616604	1616604	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaccgaatccacccaggaCgcctaccaggacagccgcgc	11	2	10	18	4	0	0	0	0	0	0	1	3	1	2	6	2	3	1	6	2	2	1			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr8:1616604C>T	ENST00000421627.2	+	6	1814	c.1680C>T	c.(1678-1680)gaC>gaT	p.D560D		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	639					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CCACCCAGGACGCCTACCAGG	0.632													4	20					0	0	1	0	0	T	1616604	C	T	1616604	2	4	24	1	0	0	0	0	0	0	0	1	4588	535	19	1		1	DLGAP2	8	1616604	Silent	SNP	C	TCGA-CH-5769-01A-11D-1576-08		1616604	144747418	50	1332											
PPP1R3B	79660	broad.mit.edu	37	chr8	8998482	8998482	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggatgatcctatagttcttgCctctgttgctgtcccagtac	6	15	9	11	0	2	1	0	1	2	0	4	2	4	2	3	1	3	4	3	1	3	6			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr8:8998482C>T	ENST00000310455.3	-	2	830	c.680G>A	c.(679-681)gGc>gAc	p.G227D	PPP1R3B_ENST00000519699.1_Missense_Mutation_p.G227D	NM_001201329.1|NM_024607.3	NP_001188258.1|NP_078883.2	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory subunit 3B	227	CBM21.				glycogen metabolic process			p.G227D(2)		endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		ATAGTTCTTGCCTCTGTTGCT	0.483													19	128					0	0	1	0	0	T	8998482	C	T	8998482	3	4	24	1	0	0	0	0	1	0	0	0	12421	739	26	2	181	2	PPP1R3B	8	8998482	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08	7381878	8998482	137365540	51	1333											
BMP1	649	broad.mit.edu	37	chr8	22051965	22051965	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtccccacagccatctgCgggggtgatgtgaaaaagga	10	8	14	9	1	1	2	0	2	1	0	2	3	2	3	3	3	2	0	3	3	2	0			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr8:22051965C>T	ENST00000306385.5	+	11	1975	c.1305C>T	c.(1303-1305)tgC>tgT	p.C435C	BMP1_ENST00000397814.3_Silent_p.C435C|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397816.3_Silent_p.C435C|BMP1_ENST00000306349.8_Silent_p.C435C	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	435	CUB 2.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding	p.C435C(1)		breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CAGCCATCTGCGGGGGTGATG	0.587													7	64					0	0	1	0	0	T	22051965	C	T	22051965	2	4	24	1	0	0	0	0	0	0	0	1	1455	776	27	1		1	BMP1	8	22051965	Silent	SNP	C	TCGA-CH-5769-01A-11D-1576-08	13053483	22051965	124312057	52	1334											
SORBS3	10174	broad.mit.edu	37	chr8	22415644	22415644	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcattttctgatcccagagCgttgacagacccagagactg	10	10	10	11	1	1	5	0	2	1	3	2	6	2	5	2	0	2	2	2	0	0	3			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr8:22415644C>T	ENST00000240123.7	+	5	800	c.417C>T	c.(415-417)agC>agT	p.S139S	SORBS3_ENST00000523402.1_Silent_p.S139S	NM_005775.4	NP_005766.3	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3	139	SoHo.				muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		GATCCCAGAGCGTTGACAGAC	0.512													9	180					0	0	1	0	0	T	22415644	C	T	22415644	2	4	24	1	0	0	0	0	0	0	0	1	14983	767	27	1		1	SORBS3	8	22415644	Silent	SNP	C	TCGA-CH-5769-01A-11D-1576-08	363679	22415644	123948378	53	1335											
PXDNL	137902	broad.mit.edu	37	chr8	52321017	52321017	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	taggattgattaatgtgtggCcaaatctaaaggctgcagta	13	12	11	5	0	1	1	0	1	1	0	1	2	1	2	1	3	1	3	1	3	6	5			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr8:52321017C>T	ENST00000356297.4	-	17	3267	c.3167G>A	c.(3166-3168)gGc>gAc	p.G1056D	PXDNL_ENST00000543296.1_Missense_Mutation_p.G1056D	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1056					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TAATGTGTGGCCAAATCTAAA	0.493													4	40					0	0	1	0	0	T	52321017	C	T	52321017	3	4	24	1	0	0	0	0	1	0	0	0	12900	739	26	2	1252	2	PXDNL	8	52321017	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08	29905373	52321017	94043005	54	1336											
VPS13B	157680	broad.mit.edu	37	chr8	100454735	100454735	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agtaagaagttggtaccatgGacaaaccagcatgccgggaa	15	6	12	8	1	0	1	0	0	0	1	0	3	0	3	3	3	4	4	3	3	5	3			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr8:100454735G>A	ENST00000395996.1	+	23	3428	c.3317G>A	c.(3316-3318)gGa>gAa	p.G1106E	VPS13B_ENST00000357162.2_Missense_Mutation_p.G1106E|VPS13B_ENST00000358544.2_Missense_Mutation_p.G1106E			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1106					protein transport			p.G1106E(2)		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)			TGGTACCATGGACAAACCAGC	0.428													6	107					0	0	1	0	0	A	100454735	G	A	100454735	3	1	24	1	0	0	0	0	1	0	0	0	17250	1174	41	2	3526	2	VPS13B	8	100454735	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08	48133718	100454735	45909287	55	1337											
FAM91A1	157769	broad.mit.edu	37	chr8	124799551	124799551	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtctacaggacacacgaagCgcatcgcattcctgtttgac	10	10	9	12	3	1	1	0	1	1	0	3	3	2	2	1	1	2	3	1	1	2	3			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr8:124799551C>T	ENST00000334705.7	+	13	1375	c.1129C>T	c.(1129-1131)Cgc>Tgc	p.R377C	FAM91A1_ENST00000521166.1_Missense_Mutation_p.R377C	NM_144963.2	NP_659400.2	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	377								p.R377C(1)		breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			ACACACGAAGCGCATCGCATT	0.388													12	85					0	0	1	0	0	T	124799551	C	T	124799551	3	4	24	1	0	0	0	0	1	0	0	0	5684	768	27	1	1179	1	FAM91A1	8	124799551	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08	24344816	124799551	21564471	56	1338											
SLC35D2	11046	broad.mit.edu	37	chr9	99099021	99099021	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaaaaacaggaaagaagaaActgtaggataaacacaacat	24	4	7	6	0	0	2	0	0	0	2	0	4	0	4	0	2	4	1	0	2	10	2			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr9:99099021A>G	ENST00000253270.7	-	9	792	c.730T>C	c.(730-732)Ttt>Ctt	p.F244L	SLC35D2_ENST00000375259.4_Intron	NM_007001.2	NP_008932.2	Q76EJ3	S35D2_HUMAN	solute carrier family 35 (UDP-GlcNAc/UDP-glucose transporter), member D2	244						Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity			endometrium(3)|large_intestine(3)|lung(4)|skin(2)	12		Acute lymphoblastic leukemia(62;0.0167)				GAAAGAAGAAACTGTAGGATA	0.313													3	8					0	0	1	0	0	G	99099021	A	G	99099021	3	3	24	1	0	0	0	0	1	0	0	0	14637	43	2	3	299	3	SLC35D2	9	99099021	Missense_Mutation	SNP	A	TCGA-CH-5769-01A-11D-1576-08		99099021	42114410	57	1339											
ALG2	85365	broad.mit.edu	37	chr9	101980873	101980873	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acatttagagatggatagagGacatcagggtctatgtgaga	14	10	13	4	0	2	3	1	1	1	3	2	7	2	5	0	3	0	0	0	3	3	4			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr9:101980873G>A	ENST00000476832.1	-	2	655	c.594C>T	c.(592-594)gtC>gtT	p.V198V	ALG2_ENST00000319033.6_Silent_p.V105V	NM_033087.3	NP_149078.1	Q9H553	ALG2_HUMAN	ALG2, alpha-1,3/1,6-mannosyltransferase	198					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in endoplasmic reticulum|protein N-linked glycosylation via asparagine|response to calcium ion	endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein anchor|protein heterodimerization activity|protein N-terminus binding	p.V198V(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2)	22		Acute lymphoblastic leukemia(62;0.0559)				ATGGATAGAGGACATCAGGGT	0.468													13	118					0	0	1	0	0	A	101980873	G	A	101980873	2	1	24	1	0	0	0	0	0	0	0	1	515	1161	41	2		2	ALG2	9	101980873	Silent	SNP	G	TCGA-CH-5769-01A-11D-1576-08	2881852	101980873	39232558	58	1340											
ZNF462	58499	broad.mit.edu	37	chr9	109689585	109689585	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcagttgtgggagtgcttgTccactaccagaaaagacacc	11	9	11	10	0	1	2	1	0	0	2	2	3	2	3	3	1	2	2	3	1	3	3			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr9:109689585T>C	ENST00000277225.5	+	3	3681	c.3392T>C	c.(3391-3393)gTc>gCc	p.V1131A	ZNF462_ENST00000457913.1_Missense_Mutation_p.V1131A			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1131					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V1131A(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						GGAGTGCTTGTCCACTACCAG	0.532													16	238					0	0	1	0	0	C	109689585	T	C	109689585	3	2	24	1	0	0	0	0	1	0	0	0	17983	1667	58	3	3398	3	ZNF462	9	109689585	Missense_Mutation	SNP	T	TCGA-CH-5769-01A-11D-1576-08	7708712	109689585	31523846	59	1341											
SLC25A25	114789	broad.mit.edu	37	chr9	130866086	130866087	+	Frame_Shift_Ins	INS	-	-	C																															cgtatccagaacctgcacggINScccccctggacaggctcaag																										TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr9:130866086_130866087insC	ENST00000373066.5	+	6	1116_1117	c.709_710insC	c.(709-711)cccfs	p.P237fs	SLC25A25_ENST00000433501.1_Frame_Shift_Ins_p.P102fs|SLC25A25_ENST00000432073.2_Frame_Shift_Ins_p.P225fs|SLC25A25_ENST00000373064.5_Frame_Shift_Ins_p.P205fs|SLC25A25_ENST00000373068.2_Frame_Shift_Ins_p.P239fs|SLC25A25_ENST00000373069.5_Frame_Shift_Ins_p.P251fs	NM_001265614.2	NP_001252543.1	Q6KCM7	SCMC2_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25	205					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						AACCTGCACGGCCCCCCTGGAC	0.639													16	95	---	---	---	---						C	130866087	-	C	130866086	7	5	24	1	0	1	1	0	0	0	0	0	14543	1203	42	0	1119	0	SLC25A25	9	130866086	Frame_Shift_Ins	INS	-	TCGA-CH-5769-01A-11D-1576-08	21176501	130866086	10347345	60	1342											
NUP188	23511	broad.mit.edu	37	chr9	131768055	131768055	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccctcaacatgcttggagaGgtaagttggttctgtcagac	9	11	12	9	0	3	2	2	0	1	2	3	3	3	2	1	3	2	4	1	3	2	4			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr9:131768055G>T	ENST00000372577.2	+	41	4890	c.4869_splice	c.e41+1	p.E1623_splice		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1623					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	p.E1623D(1)		breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TGCTTGGAGAGGTAAGTTGGT	0.597													18	296					3.32936e-07	3.57497e-07	1	1	0	T	131768055	G	T	131768055	5	4	24	1	0	0	0	0	0	0	1	0	10806	1014	35	4	5031	4	NUP188	9	131768055	Splice_Site	SNP	G	TCGA-CH-5769-01A-11D-1576-08	901969	131768055	9445376	61	1343											
NOTCH1	4851	broad.mit.edu	37	chr9	139401818	139401818	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggtcgaggcaggtgcccccGttctggcaggggtgggagag	6	6	20	9	2	1	1	0	0	1	1	2	3	1	1	2	7	1	3	2	7	0	1			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr9:139401818G>A	ENST00000277541.6	-	22	3657	c.3582C>T	c.(3580-3582)aaC>aaT	p.N1194N		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1194	EGF-like 31; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGGTGCCCCCGTTCTGGCAGG	0.667			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			4	37					0	0	1	0	0	A	139401818	G	A	139401818	2	1	24	1	0	0	0	0	0	0	0	1	10594	1136	40	1		1	NOTCH1	9	139401818	Silent	SNP	G	TCGA-CH-5769-01A-11D-1576-08	7633763	139401818	1811613	62	1344											
ERCC6	2074	broad.mit.edu	37	chr10	50680468	50680469	+	Frame_Shift_Del	DEL	AC	AC	-																															gcccgcagtcaggagcctgtAcacagtcacttgcttcttct																										TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr10:50680468_50680469delAC	ENST00000355832.5	-	16	2955_2956	c.2877_2878delGT	c.(2875-2880)gtacfs	p.VY959fs	ERCC6_ENST00000542458.1_Frame_Shift_Del_p.VY329fs|RP11-123B3.2_ENST00000423283.1_RNA	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	959	Helicase C-terminal.				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AGGAGCCTGTACACAGTCACTT	0.55								Direct reversal of damage;Nucleotide excision repair (NER)					8	298	---	---	---	---						-	50680469	AC	-	50680468	7	5	24	1	0	1	0	1	0	0	0	0	5245	391	14	0	1627	0	ERCC6	10	50680468	Frame_Shift_Del	DEL	AC	TCGA-CH-5769-01A-11D-1576-08		50680468	84854279	63	1345											
MMRN2	79812	broad.mit.edu	37	chr10	88702968	88702968	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagccgtccagctgccgccGctcgtccaggctcacctggg	4	6	14	17	4	1	0	1	0	0	0	4	1	3	1	6	3	3	3	6	3	0	0			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr10:88702968G>A	ENST00000372027.4	-	6	1646	c.1573C>T	c.(1573-1575)Cgg>Tgg	p.R525W		NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	525						extracellular space		p.R525W(1)		breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						AGCTGCCGCCGCTCGTCCAGG	0.697													6	43					0	0	1	0	0	A	88702968	G	A	88702968	3	1	24	1	0	0	0	0	1	0	0	0	9720	1086	38	1	1284	1	MMRN2	10	88702968	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08	38022500	88702968	46831779	64	1346											
TCF7L2	6934	broad.mit.edu	37	chr10	114925494	114925494	+	Frame_Shift_Del	DEL	C	C	-																															tcgctgtccctgaagcccgaCcccctggcccacctgtccat																								rs61724286		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr10:114925494delC	ENST00000355995.4	+	15	2130	c.1623delC	c.(1621-1623)gafs	p.D541fs	TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000538897.1_3'UTR|TCF7L2_ENST00000543371.1_Frame_Shift_Del_p.D524fs|TCF7L2_ENST00000369397.4_Frame_Shift_Del_p.D518fs|TCF7L2_ENST00000536810.1_Frame_Shift_Del_p.D524fs|TCF7L2_ENST00000545257.1_Frame_Shift_Del_p.D541fs|TCF7L2_ENST00000355717.4_3'UTR|TCF7L2_ENST00000542695.1_Frame_Shift_Del_p.D257fs|TCF7L2_ENST00000369386.1_3'UTR			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	541					anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		TGAAGCCCGACCCCCTGGCCC	0.697			T	VTI1A	colorectal								49	188	---	---	---	---						-	114925494	C	-	114925494	7	5	24	1	0	1	0	1	0	0	0	0	15758	506	18	0	1903	0	TCF7L2	10	114925494	Frame_Shift_Del	DEL	C	TCGA-CH-5769-01A-11D-1576-08	26222526	114925494	20609253	65	1347											
ANO9	338440	broad.mit.edu	37	chr11	420567	420567	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagagcgcgagcagcggcGccagcgggaaggcggccacg	9	1	19	12	7	0	2	0	1	0	1	0	4	0	3	2	4	4	1	2	4	2	0			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr11:420567G>A	ENST00000332826.6	-	19	1766	c.1682C>T	c.(1681-1683)gCg>gTg	p.A561V		NM_001012302.2	NP_001012302.2	A1A5B4	ANO9_HUMAN	anoctamin 9	561						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						GAGCAGCGGCGCCAGCGGGAA	0.687													5	42					0	0	1	0	0	A	420567	G	A	420567	3	1	24	1	0	0	0	0	1	0	0	0	698	1087	38	1	686	1	ANO9	11	420567	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08		420567	134585949	66	1348											
TRIM5	85363	broad.mit.edu	37	chr11	5686351	5686352	+	Frame_Shift_Ins	INS	-	-	T																															atttaggttgataattttcaINStttttttcaatattacacat																										TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr11:5686351_5686352insT	ENST00000305836.5	-	8	1471_1472	c.1169_1170insA	c.(1168-1170)agafs	p.R390fs	TRIM5_ENST00000380027.1_Intron|TRIM5_ENST00000483835.1_Intron|TRIM5_ENST00000380034.3_Frame_Shift_Ins_p.R390fs|TRIM5_ENST00000396847.3_3'UTR|TRIM5_ENST00000396853.4_Intron|TRIM5_ENST00000396855.3_Intron			Q9C035	TRIM5_HUMAN	tripartite motif containing 5	390	B30.2/SPRY.				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		GATAATTTTCATTTTTTTCAAT	0.421													11	223	---	---	---	---						T	5686352	-	T	5686351	7	5	24	1	0	1	1	0	0	0	0	0	16586	214	8	0	405	0	TRIM5	11	5686351	Frame_Shift_Ins	INS	-	TCGA-CH-5769-01A-11D-1576-08	5265784	5686351	129320165	67	1349											
MRGPRX2	117194	broad.mit.edu	37	chr11	19076976	19076976	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctacaccagactgcttctcGacatctccggggtgccctga	7	10	9	15	2	3	2	0	1	3	1	5	3	3	2	3	2	3	1	3	2	1	2			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr11:19076976G>A	ENST00000329773.2	-	2	1061	c.974C>T	c.(973-975)tCg>tTg	p.S325L		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	325					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding	p.S325L(1)		NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						ACTGCTTCTCGACATCTCCGG	0.537													11	112					0	0	1	0	0	A	19076976	G	A	19076976	3	1	24	1	0	0	0	0	1	0	0	0	9816	1059	37	1	22	1	MRGPRX2	11	19076976	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08	13390625	19076976	115929540	68	1350											
NUMA1	0	broad.mit.edu	37	chr11	71725778	71725778	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgctgctcacctgccttgCgcaccaaggtctccaagcgg	6	8	10	17	2	2	0	1	0	1	0	3	0	2	0	5	2	5	3	5	2	2	1			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr11:71725778C>T	ENST00000393695.3	-	15	3102	c.2771G>A	c.(2770-2772)cGc>cAc	p.R924H	NUMA1_ENST00000358965.6_Missense_Mutation_p.R924H|RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000351960.6_Intron	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	924					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	p.R924H(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						ACCTGCCTTGCGCACCAAGGT	0.602			T	RARA	APL								9	144					0	0	1	0	0	T	71725778	C	T	71725778	3	4	24	1	0	0	0	0	1	0	0	0	10798	768	27	1	3628	1	NUMA1	11	71725778	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08	52648802	71725778	63280738	69	1351											
FOLR2	2350	broad.mit.edu	37	chr11	71932028	71932028	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcggcaagatggagcccGcctgcaagcgccacttcatc	9	6	11	15	3	1	1	1	0	0	1	2	2	1	2	3	2	4	2	3	2	2	1	rs140643936	byFrequency	TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr11:71932028G>A	ENST00000449475.2	+	3	614	c.316G>A	c.(316-318)Gcc>Acc	p.A106T	FOLR2_ENST00000454954.2_Missense_Mutation_p.A48T|FOLR2_ENST00000298223.6_Missense_Mutation_p.A89T			P14207	FOLR2_HUMAN	folate receptor 2 (fetal)	89					folic acid transport	anchored to membrane|extracellular region|membrane fraction|plasma membrane	folic acid binding|receptor activity			breast(3)|large_intestine(3)|ovary(1)|skin(1)	8					Folic Acid(DB00158)	GATGGAGCCCGCCTGCAAGCG	0.622													7	56					0	0	1	0	0	A	71932028	G	A	71932028	3	1	24	1	0	0	0	0	1	0	0	0	6015	1087	38	1	271	1	FOLR2	11	71932028	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08	206250	71932028	63074488	70	1352											
IGSF9B	22997	broad.mit.edu	37	chr11	133799647	133799647	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcatggagacctggaccCggacactgcccggggcatgg	7	7	15	12	2	1	1	1	0	0	1	1	4	1	3	3	6	1	1	3	6	0	1			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr11:133799647C>T	ENST00000321016.8	-	12	1780	c.1550G>A	c.(1549-1551)cGg>cAg	p.R517Q	IGSF9B_ENST00000533871.2_Missense_Mutation_p.R517Q			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	517	Fibronectin type-III 1.					integral to membrane|plasma membrane		p.R517Q(1)		breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GACCTGGACCCGGACACTGCC	0.597													9	106					0	0	1	0	0	T	133799647	C	T	133799647	3	4	24	1	0	0	0	0	1	0	0	0	7650	652	23	1	2531	1	IGSF9B	11	133799647	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08	61867619	133799647	1206869	71	1353											
NOP2	4839	broad.mit.edu	37	chr12	6669363	6669363	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtagaagcgtcgggtagaacGcagactggggtggaagcgcc	10	5	18	8	4	0	3	0	0	0	3	1	4	0	4	1	4	3	3	1	4	5	2			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr12:6669363G>A	ENST00000541778.1	-	15	2166	c.1678C>T	c.(1678-1680)Cgt>Tgt	p.R560C	NOP2_ENST00000542015.1_5'UTR|NOP2_ENST00000322166.5_Missense_Mutation_p.R564C|NOP2_ENST00000545200.1_Missense_Mutation_p.R560C|NOP2_ENST00000399466.2_Missense_Mutation_p.R560C|NOP2_ENST00000382421.3_Missense_Mutation_p.R597C|NOP2_ENST00000537442.1_Missense_Mutation_p.R564C			P46087	NOP2_HUMAN	NOP2 nucleolar protein	564					positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						CGGGTAGAACGCAGACTGGGG	0.512													8	110					0	0	1	0	0	A	6669363	G	A	6669363	3	1	24	1	0	0	0	0	1	0	0	0	10585	1087	38	1	756	1	NOP2	12	6669363	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08		6669363	127182532	72	1354											
MFAP5	8076	broad.mit.edu	37	chr12	8804283	8804283	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtggtatttttttcactgagGgaggctgaaaggcagaaatt	11	13	13	4	0	1	3	1	2	0	1	1	4	1	4	0	4	0	3	0	4	3	5			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr12:8804283G>T	ENST00000359478.2	-	7	409	c.222C>A	c.(220-222)tcC>tcA	p.S74S	MFAP5_ENST00000535336.1_Intron|MFAP5_ENST00000396549.2_Intron|MFAP5_ENST00000543369.1_Intron|MFAP5_ENST00000433590.2_Intron|MFAP5_ENST00000540087.1_Intron	NM_003480.2	NP_003471.1	Q13361	MFAP5_HUMAN	microfibrillar associated protein 5	74						microfibril	extracellular matrix structural constituent			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|skin(1)	13	Lung SC(5;0.184)					TTTCACTGAGGGAGGCTGAAA	0.433													8	167					1.58986e-06	1.67961e-06	1	1	0	T	8804283	G	T	8804283	2	4	24	1	0	0	0	0	0	0	0	1	9568	1219	43	4		4	MFAP5	12	8804283	Silent	SNP	G	TCGA-CH-5769-01A-11D-1576-08	2134920	8804283	125047612	73	1355											
DDX23	9416	broad.mit.edu	37	chr12	49237789	49237789	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatctcggtccttcttattcCgatcccgctccttatctcgt	4	16	6	15	4	3	0	0	0	3	0	9	2	7	0	4	1	0	1	4	1	2	4			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr12:49237789C>T	ENST00000308025.3	-	3	333	c.254G>A	c.(253-255)cGg>cAg	p.R85Q	DDX23_ENST00000553182.1_5'UTR	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	85	Arg-rich.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding	p.R85Q(1)		NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						CTTCTTATTCCGATCCCGCTC	0.488													21	382					0	0	1	0	0	T	49237789	C	T	49237789	3	4	24	1	0	0	0	0	1	0	0	0	4373	652	23	1	2268	1	DDX23	12	49237789	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08	40433506	49237789	84614106	74	1356											
TRPV4	59341	broad.mit.edu	37	chr12	110226321	110226321	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgatgtaggtcaccagcaGgatgatgaagaccacggggt	12	7	15	7	1	1	4	1	3	0	1	1	6	1	5	2	4	1	2	2	4	2	1			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr12:110226321G>T	ENST00000418703.2	-	12	2186	c.2092C>A	c.(2092-2094)Ctg>Atg	p.L698M	TRPV4_ENST00000536838.1_Missense_Mutation_p.L664M|TRPV4_ENST00000544971.1_Missense_Mutation_p.L591M|TRPV4_ENST00000541794.1_Missense_Mutation_p.L651M|TRPV4_ENST00000346520.2_Missense_Mutation_p.L638M|TRPV4_ENST00000537083.1_Missense_Mutation_p.L638M|TRPV4_ENST00000261740.2_Missense_Mutation_p.L698M|TRPV4_ENST00000392719.2_Missense_Mutation_p.L651M	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	698					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	p.L698M(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						GTCACCAGCAGGATGATGAAG	0.567													18	184					5.35267e-07	5.70081e-07	1	1	0	T	110226321	G	T	110226321	3	4	24	1	0	0	0	0	1	0	0	0	16659	991	35	4	539	4	TRPV4	12	110226321	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08	60988532	110226321	23625574	75	1357											
SIRT4	23409	broad.mit.edu	37	chr12	120741830	120741830	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaccaaggcggggagtcggCgcctgacagagctccacgga	10	3	15	13	4	0	2	0	1	0	1	2	4	1	4	3	5	1	1	3	5	1	0			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr12:120741830C>T	ENST00000202967.4	+	2	525	c.466C>T	c.(466-468)Cgc>Tgc	p.R156C	SIRT4_ENST00000537892.1_3'UTR	NM_012240.2	NP_036372.1	Q9Y6E7	SIRT4_HUMAN	sirtuin 4	156	Deacetylase sirtuin-type.				chromatin silencing|negative regulation of insulin secretion|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding	p.R156C(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGGGAGTCGGCGCCTGACAGA	0.567													6	94					0	0	1	0	0	T	120741830	C	T	120741830	3	4	24	1	0	0	0	0	1	0	0	0	14395	768	27	1	468	1	SIRT4	12	120741830	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08	10515509	120741830	13110065	76	1358											
CCDC92	80212	broad.mit.edu	37	chr12	124422263	124422263	+	Frame_Shift_Del	DEL	T	T	-																															ccagcactgtgatcatcgcgTttttctgctccagttctttc																										TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr12:124422263delT	ENST00000545135.1	-	3	3583	c.287delA	c.(286-288)acfs	p.N96fs	CCDC92_ENST00000545891.1_Frame_Shift_Del_p.N96fs|CCDC92_ENST00000544798.1_Intron|CCDC92_ENST00000238156.3_Frame_Shift_Del_p.N113fs			Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	113										large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		GATCATCGCGTTTTTCTGCTC	0.463													33	415	---	---	---	---						-	124422263	T	-	124422263	7	5	24	1	0	1	0	1	0	0	0	0	2891	1725	60	0	661	0	CCDC92	12	124422263	Frame_Shift_Del	DEL	T	TCGA-CH-5769-01A-11D-1576-08	3680433	124422263	9429632	77	1359											
LIG4	3981	broad.mit.edu	37	chr13	108861451	108861451	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattctaaaagccatgcaggCttgacaacatcatgtttatt	13	13	6	9	0	2	1	1	1	1	0	2	1	2	1	1	1	3	3	1	1	4	6			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr13:108861451C>T	ENST00000356922.4	-	2	2438	c.2166G>A	c.(2164-2166)aaG>aaA	p.K722K	LIG4_ENST00000405925.1_Silent_p.K722K|LIG4_ENST00000442234.1_Silent_p.K722K	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	722	BRCT 1.				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding	p.K722K(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					GCCATGCAGGCTTGACAACAT	0.398								Non-homologous end-joining					11	124					0	0	1	0	0	T	108861451	C	T	108861451	2	4	24	1	0	0	0	0	0	0	0	1	8823	796	28	2		2	LIG4	13	108861451	Silent	SNP	C	TCGA-CH-5769-01A-11D-1576-08		108861451	6308427	78	1360											
COL4A2	1284	broad.mit.edu	37	chr13	111156530	111156530	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagggaaagctgggccccaaGgaagaggtggtgtgtctgct	9	7	17	8	0	1	1	0	0	1	1	1	3	1	3	2	5	2	2	2	5	3	0			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr13:111156530G>T	ENST00000360467.5	+	45	4627	c.4321G>T	c.(4321-4323)Gga>Tga	p.G1441*	COL4A2-AS1_ENST00000417970.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1441	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	p.G1441*(1)		NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TGGGCCCCAAGGAAGAGGTGG	0.622													12	122					2.27111e-07	2.45881e-07	1	1	0	T	111156530	G	T	111156530	4	4	24	1	0	0	0	0	0	1	0	0	3713	1001	35	4	4495	4	COL4A2	13	111156530	Nonsense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08	2295079	111156530	4013348	79	1361											
KCNH5	27133	broad.mit.edu	37	chr14	63175050	63175050	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attccgcagctccttctgctGcttgaacttctggaagagct	7	13	9	12	1	2	2	0	1	2	1	4	3	4	3	2	1	5	5	2	1	2	4			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr14:63175050G>A	ENST00000322893.7	-	11	2411	c.2143C>T	c.(2143-2145)Cag>Tag	p.Q715*	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	715	Calmodulin-binding (Potential).				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	p.Q715*(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TCCTTCTGCTGCTTGAACTTC	0.562													14	208					0	0	1	0	0	A	63175050	G	A	63175050	4	1	24	1	0	0	0	0	0	1	0	0	8079	1328	46	2	827	2	KCNH5	14	63175050	Nonsense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08		63175050	44174490	80	1362											
KCNK13	56659	broad.mit.edu	37	chr14	90650708	90650708	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggaagccctccgtgtactaCgtcatgctgatcctatgcac	8	11	9	13	2	1	1	1	1	0	0	3	2	3	2	3	1	5	3	3	1	4	3	rs114616148	by1000genomes	TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr14:90650708C>T	ENST00000282146.4	+	2	1029	c.588C>T	c.(586-588)taC>taT	p.Y196Y		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	196						integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.Y196Y(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				CCGTGTACTACGTCATGCTGA	0.612													20	243					0	0	1	0	0	T	90650708	C	T	90650708	2	4	24	1	0	0	0	0	0	0	0	1	8105	547	19	1		1	KCNK13	14	90650708	Silent	SNP	C	TCGA-CH-5769-01A-11D-1576-08	27475658	90650708	16698832	81	1363											
C14orf159	80017	broad.mit.edu	37	chr14	91647609	91647609	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaaggctccacctggttgTctcaccccagagagaattcc	10	8	9	14	0	1	2	1	0	1	2	4	3	3	2	5	2	0	3	5	2	2	2			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr14:91647609T>C	ENST00000518868.1	+	11	1500	c.810T>C	c.(808-810)tgT>tgC	p.C270C	C14orf159_ENST00000523816.1_Silent_p.C265C|C14orf159_ENST00000428926.2_Silent_p.C265C|C14orf159_ENST00000412671.2_Silent_p.C270C|C14orf159_ENST00000522322.1_Silent_p.C265C|C14orf159_ENST00000256324.10_Silent_p.C270C|C14orf159_ENST00000521077.2_Silent_p.C270C|C14orf159_ENST00000520328.1_Silent_p.C253C|C14orf159_ENST00000525393.2_Silent_p.C141C|C14orf159_ENST00000523771.1_Silent_p.C265C			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	265						mitochondrion		p.C265C(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		CACCTGGTTGTCTCACCCCAG	0.522													5	63					0	0	1	0	0	C	91647609	T	C	91647609	2	2	24	1	0	0	0	0	0	0	0	1	1761	1673	58	3		3	C14orf159	14	91647609	Silent	SNP	T	TCGA-CH-5769-01A-11D-1576-08	996901	91647609	15701931	82	1364											
SERPINA10	51156	broad.mit.edu	37	chr14	94756667	94756667	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtgcctcatggagatcttTcgcagcaggctgaatccgaa	9	10	11	11	3	2	2	1	1	1	1	5	4	3	2	2	2	2	3	2	2	2	1			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr14:94756667T>C	ENST00000554723.1	-	2	802	c.384A>G	c.(382-384)cgA>cgG	p.R128R	SERPINA10_ENST00000554173.1_Silent_p.R88R|SERPINA10_ENST00000261994.4_Silent_p.R88R|SERPINA10_ENST00000393096.1_Silent_p.R88R			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	88					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.R88R(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		TGGAGATCTTTCGCAGCAGGC	0.567													14	60					0	0	1	0	0	C	94756667	T	C	94756667	2	2	24	1	0	0	0	0	0	0	0	1	14141	1770	62	3		3	SERPINA10	14	94756667	Silent	SNP	T	TCGA-CH-5769-01A-11D-1576-08	3109058	94756667	12592873	83	1365											
SNRPN	6638	broad.mit.edu	37	chr15	25223444	25223444	+	Frame_Shift_Del	DEL	C	C	-																															tgccgcctccgggaatgagaCcccctccaccaggcattaga																										TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr15:25223444delC	ENST00000444203.2	+	7	1715	c.676delC	c.(676-678)ccfs	p.P229fs	SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000346403.6_Frame_Shift_Del_p.P225fs|SNRPN_ENST00000400100.1_Frame_Shift_Del_p.P225fs|SNRPN_ENST00000400097.1_Frame_Shift_Del_p.P225fs|SNRPN_ENST00000577565.1_Frame_Shift_Del_p.P225fs|SNRPN_ENST00000400098.1_Frame_Shift_Del_p.P225fs|SNRPN_ENST00000554227.2_Frame_Shift_Del_p.P229fs|SNRPN_ENST00000390687.4_Frame_Shift_Del_p.P225fs			P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	225	Repeat-rich region.				RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		GGGAATGAGACCCCCTCCACC	0.552									Prader-Willi syndrome				14	256	---	---	---	---						-	25223444	C	-	25223444	7	5	24	1	0	1	0	1	0	0	0	0	14924	507	18	0	686	0	SNRPN	15	25223444	Frame_Shift_Del	DEL	C	TCGA-CH-5769-01A-11D-1576-08		25223444	77307948	84	1366											
DIS3L	115752	broad.mit.edu	37	chr15	66618502	66618502	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgacaaaaagaacattcaCgacctcatccccaagcagcc	16	5	6	14	1	2	2	2	1	0	1	3	4	3	2	4	0	3	1	4	0	4	1			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr15:66618502C>T	ENST00000319194.5	+	12	2013	c.1752C>T	c.(1750-1752)caC>caT	p.H584H	RP11-352G18.2_ENST00000565993.1_RNA|DIS3L_ENST00000319212.4_Silent_p.H667H	NM_133375.3	NP_588616.1	Q8TF46	DI3L1_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like	667					rRNA catabolic process	cytoplasm|exosome (RNase complex)	exonuclease activity|protein binding|ribonuclease activity|RNA binding	p.H667H(1)|p.H584H(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AGAACATTCACGACCTCATCC	0.537													10	112					0	0	1	0	0	T	66618502	C	T	66618502	2	4	24	1	0	0	0	0	0	0	0	1	4564	535	19	1		1	DIS3L	15	66618502	Silent	SNP	C	TCGA-CH-5769-01A-11D-1576-08	41395058	66618502	35912890	85	1367											
ITGA11	22801	broad.mit.edu	37	chr15	68649516	68649516	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attcaatgccaaatgccgtcCgggtctctgttcctcctctc	6	13	7	15	2	3	0	1	0	2	0	8	0	6	0	5	1	2	1	5	1	2	2			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr15:68649516C>T	ENST00000423218.2	-	7	817	c.722G>A	c.(721-723)cGg>cAg	p.R241Q	ITGA11_ENST00000315757.7_Missense_Mutation_p.R241Q|ITGA11_ENST00000562826.1_5'UTR			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	241	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity	p.R241Q(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	AAATGCCGTCCGGGTCTCTGT	0.413													23	82					0	0	1	0	0	T	68649516	C	T	68649516	3	4	24	1	0	0	0	0	1	0	0	0	7918	652	23	1	2940	1	ITGA11	15	68649516	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08	2031014	68649516	33881876	86	1368											
IDH3A	3419	broad.mit.edu	37	chr15	78455875	78455875	+	Frame_Shift_Del	DEL	A	A	-																															gtcagatgggctttttctacAaaaatgcagggaagttgcag																										TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr15:78455875delA	ENST00000299518.2	+	7	721	c.638delA	c.(637-639)cafs	p.Q213fs	IDH3A_ENST00000559205.1_Intron|IDH3A_ENST00000558554.1_Frame_Shift_Del_p.Q178fs|IDH3A_ENST00000558535.1_3'UTR|IDH3A_ENST00000441490.2_Frame_Shift_Del_p.Q104fs	NM_005530.2	NP_005521.1	P50213	IDH3A_HUMAN	isocitrate dehydrogenase 3 (NAD+) alpha	213					carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding			endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	12					NADH(DB00157)	CTTTTTCTACAAAAATGCAGG	0.303													7	147	---	---	---	---						-	78455875	A	-	78455875	7	5	24	1	0	1	0	1	0	0	0	0	7540	130	5	0	664	0	IDH3A	15	78455875	Frame_Shift_Del	DEL	A	TCGA-CH-5769-01A-11D-1576-08	9806359	78455875	24075517	87	1369											
CASKIN1	57524	broad.mit.edu	37	chr16	2239048	2239048	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgatgatgtcgatgtggccGtttttagctgcgaggtgcaa	7	13	14	7	3	0	2	0	2	0	0	1	4	0	2	1	2	3	3	1	2	2	3			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr16:2239048G>A	ENST00000343516.6	-	6	689	c.597C>T	c.(595-597)aaC>aaT	p.N199N		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	199					signal transduction	cytoplasm		p.N199N(1)|p.N28N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						CGATGTGGCCGTTTTTAGCTG	0.652													21	139					0	0	1	0	0	A	2239048	G	A	2239048	2	1	24	1	0	0	0	0	0	0	0	1	2684	1136	40	1		1	CASKIN1	16	2239048	Silent	SNP	G	TCGA-CH-5769-01A-11D-1576-08		2239048	88115705	88	1370											
ZSCAN10	84891	broad.mit.edu	37	chr16	3139448	3139448	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggccgcaggtgtcgcaggCgtggggcttctcccctgtgt	2	10	17	12	3	1	0	0	0	1	0	3	0	1	0	3	5	0	3	3	5	0	1	rs149846830	byFrequency	TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr16:3139448C>T	ENST00000252463.2	-	5	1909	c.1822G>A	c.(1822-1824)Gcc>Acc	p.A608T	ZSCAN10_ENST00000538082.2_Missense_Mutation_p.A526T|ZSCAN10_ENST00000575108.1_Missense_Mutation_p.A269T	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	608					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						GTGTCGCAGGCGTGGGGCTTC	0.711													5	84					0	0	1	0	0	T	3139448	C	T	3139448	3	4	24	1	0	0	0	0	1	0	0	0	18269	768	27	1	359	1	ZSCAN10	16	3139448	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08	900400	3139448	87215305	89	1371											
CDR2	1039	broad.mit.edu	37	chr16	22358681	22358681	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctcctcgtggcccttcaCgatgtcactccctgccaagc	5	10	9	17	2	3	0	2	0	1	0	6	1	4	0	4	2	2	0	4	2	1	1	rs145715358		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr16:22358681C>T	ENST00000268383.2	-	5	1277	c.970G>A	c.(970-972)Gtg>Atg	p.V324M		NM_001802.1	NP_001793.1	Q01850	CDR2_HUMAN	cerebellar degeneration-related protein 2, 62kDa	324						nucleus	protein binding			endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(48;0.0188)		TGGCCCTTCACGATGTCACTC	0.577													8	63					0	0	1	0	0	T	22358681	C	T	22358681	3	4	24	1	0	0	0	0	1	0	0	0	3194	536	19	1	398	1	CDR2	16	22358681	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08	19219233	22358681	67996072	90	1372											
SMPD3	55512	broad.mit.edu	37	chr16	68405352	68405352	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcgccaccgatgcgcaCgatgcaggcatcctccgggc	6	6	11	18	5	0	0	0	0	0	0	4	2	3	0	5	2	2	3	5	2	0	0			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr16:68405352C>T	ENST00000219334.5	-	3	1336	c.733G>A	c.(733-735)Gtg>Atg	p.V245M	SMPD3_ENST00000563226.1_Missense_Mutation_p.V245M|SMPD3_ENST00000568373.1_Missense_Mutation_p.V245M	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	245					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity	p.V245M(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	CCGATGCGCACGATGCAGGCA	0.726													8	51					0	0	1	0	0	T	68405352	C	T	68405352	3	4	24	1	0	0	0	0	1	0	0	0	14860	536	19	1	1262	1	SMPD3	16	68405352	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08	46046671	68405352	21949401	91	1373											
USP6	9098	broad.mit.edu	37	chr17	5033903	5033903	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctgggttacagggacacCgagctgggctgccagaggac	8	6	15	12	1	1	1	0	0	1	1	1	4	1	3	3	4	3	3	3	4	1	1	rs142168522		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr17:5033903C>T	ENST00000574788.1	+	11	2309	c.79C>T	c.(79-81)Cga>Tga	p.R27*	USP6_ENST00000304328.5_5'UTR|USP6_ENST00000332776.4_Nonsense_Mutation_p.R27*|USP6_ENST00000250066.6_Nonsense_Mutation_p.R27*|USP6_ENST00000572429.1_Intron			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	27					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.R27*(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						ACAGGGACACCGAGCTGGGCT	0.597			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts								21	162					0	0	1	0	0	T	5033903	C	T	5033903	4	4	24	1	0	0	0	0	0	1	0	0	17146	644	23	1	85	1	USP6	17	5033903	Nonsense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08		5033903	76161307	92	1374											
MYH13	8735	broad.mit.edu	37	chr17	10212613	10212613	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgctctgacagcctgcGggtccgctccgtctgttcca	3	11	10	17	3	2	1	0	1	2	0	6	1	6	1	5	1	3	3	5	1	0	1			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr17:10212613G>A	ENST00000418404.3	-	34	5270	c.5107C>T	c.(5107-5109)Cgc>Tgc	p.R1703C	MYH13_ENST00000252172.4_Missense_Mutation_p.R1703C|MYH13_ENST00000570743.1_Missense_Mutation_p.R1703C			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1703					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.R1703S(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GACAGCCTGCGGGTCCGCTCC	0.667													4	48					0	0	1	0	0	A	10212613	G	A	10212613	3	1	24	1	0	0	0	0	1	0	0	0	10080	1116	39	1	737	1	MYH13	17	10212613	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08	5178710	10212613	70982597	93	1375											
DNAH9	1770	broad.mit.edu	37	chr17	11865470	11865470	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggaccagatggccctgcAatgtgacatgacgaagaaga	14	6	12	9	1	0	5	0	2	0	3	0	7	0	6	2	2	1	1	2	2	3	0			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr17:11865470A>C	ENST00000262442.3	+	68	13198	c.13130A>C	c.(13129-13131)cAa>cCa	p.Q4377P	RP11-1096G20.5_ENST00000580270.1_RNA|DNAH9_ENST00000454412.2_Missense_Mutation_p.Q4301P|DNAH9_ENST00000396001.2_Missense_Mutation_p.Q689P	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4377					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ATGGCCCTGCAATGTGACATG	0.562													9	106					0	0	1	0	0	C	11865470	A	C	11865470	3	2	24	1	0	0	0	0	1	0	0	0	4635	130	5	5	13400	5	DNAH9	17	11865470	Missense_Mutation	SNP	A	TCGA-CH-5769-01A-11D-1576-08	1652857	11865470	69329740	94	1376											
RAI1	10743	broad.mit.edu	37	chr17	17701153	17701153	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggaagccttcctcctctGcctcctcttcctcatcctcg	5	12	5	19	1	3	0	1	0	2	0	9	1	8	1	7	1	2	0	7	1	1	2			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr17:17701153G>A	ENST00000353383.1	+	3	5360	c.4891G>A	c.(4891-4893)Gcc>Acc	p.A1631T	RAI1_ENST00000261641.6_Intron	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1631	Ser-rich.					cytoplasm|nucleus	zinc ion binding	p.A1631T(1)		breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		Ttcctcctctgcctcctcttc	0.637													10	152					0	0	1	0	0	A	17701153	G	A	17701153	3	1	24	1	0	0	0	0	1	0	0	0	13059	1319	46	2	4893	2	RAI1	17	17701153	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08	5835683	17701153	63494057	95	1377											
SLC5A10	125206	broad.mit.edu	37	chr17	18872377	18872377	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccgcagctggacctgtacGcgggggctctgtttgtgcac	4	10	14	13	3	1	0	0	0	1	0	2	1	2	1	2	3	3	6	2	3	1	2			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr17:18872377G>A	ENST00000317977.6	+	6	869	c.298G>A	c.(298-300)Gcg>Acg	p.A100T	SLC5A10_ENST00000395642.1_Missense_Mutation_p.A100T|SLC5A10_ENST00000395645.3_Missense_Mutation_p.A156T|FAM83G_ENST00000388995.6_3'UTR|SLC5A10_ENST00000417251.2_Missense_Mutation_p.A156T|SLC5A10_ENST00000395643.2_Missense_Mutation_p.A156T|SLC5A10_ENST00000395647.2_Missense_Mutation_p.A156T			A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	156					sodium ion transport|transmembrane transport	integral to membrane	transporter activity	p.A156T(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						GGACCTGTACGCGGGGGCTCT	0.612													9	67					0	0	1	0	0	A	18872377	G	A	18872377	3	1	24	1	0	0	0	0	1	0	0	0	14717	1087	38	1	488	1	SLC5A10	17	18872377	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08	1171224	18872377	62322833	96	1378											
MYO1D	4642	broad.mit.edu	37	chr17	31087406	31087406	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttctcattgcagtaattgaTacagaattgttcaaaactac	14	15	5	7	0	2	2	2	1	1	1	3	2	2	2	0	0	4	3	0	0	6	8			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr17:31087406T>C	ENST00000318217.5	-	10	1502	c.1198A>G	c.(1198-1200)Atc>Gtc	p.I400V	MYO1D_ENST00000579584.1_Missense_Mutation_p.I400V|MYO1D_ENST00000584232.1_5'UTR|MYO1D_ENST00000394649.4_Missense_Mutation_p.I312V|MYO1D_ENST00000583621.1_Missense_Mutation_p.I400V	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	400	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			CAGTAATTGATACAGAATTGT	0.368													7	150					0	0	1	0	0	C	31087406	T	C	31087406	3	2	24	1	0	0	0	0	1	0	0	0	10119	1406	49	3	1874	3	MYO1D	17	31087406	Missense_Mutation	SNP	T	TCGA-CH-5769-01A-11D-1576-08	12215029	31087406	50107804	97	1379											
TUBG2	27175	broad.mit.edu	37	chr17	40811928	40811928	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgtggaggaattcgccacCgagggcactgaccgcaagga	11	5	14	11	4	0	1	0	1	0	0	2	5	0	4	3	4	0	2	3	4	2	1			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr17:40811928C>T	ENST00000251412.7	+	2	325	c.126C>T	c.(124-126)acC>acT	p.T42T		NM_016437.2	NP_057521.1	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	42					G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		AATTCGCCACCGAGGGCACTG	0.667													11	170					0	0	1	0	0	T	40811928	C	T	40811928	2	4	24	1	0	0	0	0	0	0	0	1	16827	639	23	1		1	TUBG2	17	40811928	Silent	SNP	C	TCGA-CH-5769-01A-11D-1576-08	9724522	40811928	40383282	98	1380											
MPP3	4356	broad.mit.edu	37	chr17	41891642	41891642	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcgtaagtcagcagctccGgagactcagctccggaggac	9	7	12	13	3	2	1	2	0	0	1	5	4	4	3	2	3	3	4	2	3	1	2			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr17:41891642G>A	ENST00000398393.1	-	13	1432	c.1172C>T	c.(1171-1173)cCg>cTg	p.P391L	MPP3_ENST00000475450.1_5'UTR|MPP3_ENST00000398389.4_Missense_Mutation_p.P366L			Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	366	Guanylate kinase-like.				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity	p.P366L(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		CAGCAGCTCCGGAGACTCAGC	0.632													13	279					0	0	1	0	0	A	41891642	G	A	41891642	3	1	24	1	0	0	0	0	1	0	0	0	9784	1116	39	1	684	1	MPP3	17	41891642	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08	1079714	41891642	39303568	99	1381											
FZD2	2535	broad.mit.edu	37	chr17	42636103	42636103	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atctggtgggtcatcctgtcGctcacctggttcctggcagc	4	12	12	13	1	3	0	2	0	1	0	6	0	5	0	3	4	1	3	3	4	0	1			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr17:42636103G>A	ENST00000315323.3	+	1	1179	c.1047G>A	c.(1045-1047)tcG>tcA	p.S349S		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled family receptor 2	349					axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.S349S(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TCATCCTGTCGCTCACCTGGT	0.632													8	100					0	0	1	0	0	A	42636103	G	A	42636103	2	1	24	1	0	0	0	0	0	0	0	1	6165	1074	38	1		1	FZD2	17	42636103	Silent	SNP	G	TCGA-CH-5769-01A-11D-1576-08	744461	42636103	38559107	100	1382											
ADAM11	4185	broad.mit.edu	37	chr17	42855196	42855196	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaacttcagcacctgccccGgcagtggggagcgccggatt	7	7	13	14	3	2	0	2	0	0	0	2	2	2	2	4	4	4	2	4	4	1	2			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr17:42855196G>A	ENST00000200557.6	+	23	2204	c.2035G>A	c.(2035-2037)Ggc>Agc	p.G679S	ADAM11_ENST00000535346.1_Missense_Mutation_p.G479S	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	679	EGF-like.				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.G679S(2)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				CACCTGCCCCGGCAGTGGGGA	0.642													7	75					0	0	1	0	0	A	42855196	G	A	42855196	3	1	24	1	0	0	0	0	1	0	0	0	234	1116	39	1	2125	1	ADAM11	17	42855196	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08	219093	42855196	38340014	101	1383											
MSI2	0	broad.mit.edu	37	chr17	55339544	55339544	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttgcatttcctcgtcgagcGcaacccaaggtaagtaggag	10	9	12	10	3	0	0	0	0	0	0	3	2	1	1	2	2	3	5	2	2	4	4			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr17:55339544G>A	ENST00000284073.2	+	5	512	c.303G>A	c.(301-303)gcG>gcA	p.A101A	MSI2_ENST00000322684.3_Silent_p.A97A|MSI2_ENST00000416426.2_Silent_p.A79A	NM_138962.2	NP_620412.1	Q96DH6	MSI2H_HUMAN	musashi RNA-binding protein 2	101	RRM 1.					cytoplasm	nucleotide binding|RNA binding	p.A101A(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		CTCGTCGAGCGCAACCCAAGG	0.368			T	HOXA9	CML								12	148					0	0	1	0	0	A	55339544	G	A	55339544	2	1	24	1	0	0	0	0	0	0	0	1	9925	1074	38	1		1	MSI2	17	55339544	Silent	SNP	G	TCGA-CH-5769-01A-11D-1576-08	12484348	55339544	25855666	102	1384											
HEATR6	63897	broad.mit.edu	37	chr17	58121389	58121389	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtactgctctctcttcccCgggacggaaagggcagctgc	6	8	12	15	3	2	0	0	0	2	0	4	2	3	2	3	3	4	4	3	3	2	2			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr17:58121389C>T	ENST00000184956.6	-	20	3097	c.3081G>A	c.(3079-3081)ccG>ccA	p.P1027P	HEATR6_ENST00000585976.1_Silent_p.P915P	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	1027							binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			CTCTCTTCCCCGGGACGGAAA	0.532													9	201					0	0	1	0	0	T	58121389	C	T	58121389	2	4	24	1	0	0	0	0	0	0	0	1	7074	639	23	1		1	HEATR6	17	58121389	Silent	SNP	C	TCGA-CH-5769-01A-11D-1576-08	2781845	58121389	23073821	103	1385											
CACNG4	27092	broad.mit.edu	37	chr17	65026808	65026808	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacgggaattccttaaggcGtcttcctcttctccttatgc	8	14	7	12	2	3	0	0	0	3	0	6	1	5	1	3	2	2	0	3	2	4	5			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr17:65026808G>A	ENST00000262138.3	+	4	674	c.672G>A	c.(670-672)gcG>gcA	p.A224A		NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	224					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity	p.A224A(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			TCCTTAAGGCGTCTTCCTCTT	0.542													30	134					0	0	1	0	0	A	65026808	G	A	65026808	2	1	24	1	0	0	0	0	0	0	0	1	2577	1132	40	1		1	CACNG4	17	65026808	Silent	SNP	G	TCGA-CH-5769-01A-11D-1576-08	6905419	65026808	16168402	104	1386											
SEPT9	10801	broad.mit.edu	37	chr17	75398336	75398336	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcccccaaggcgtccctgcGgagggtggagctctcgggcc	4	6	15	16	3	1	0	0	0	1	0	4	2	3	2	4	5	2	1	4	5	1	0			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr17:75398336G>A	ENST00000329047.8	+	2	1030	c.218G>A	c.(217-219)cGg>cAg	p.R73Q	SEPT9_ENST00000588690.1_5'UTR|SEPT9_ENST00000449803.2_5'UTR|SEPT9_ENST00000423034.2_Missense_Mutation_p.R84Q|SEPT9_ENST00000427674.2_5'UTR|SEPT9_ENST00000431235.2_5'UTR|SEPT9_ENST00000591198.1_Missense_Mutation_p.R72Q|SEPT9_ENST00000590294.1_Missense_Mutation_p.R73Q|SEPT9_ENST00000427177.1_Missense_Mutation_p.R91Q|SEPT9_ENST00000592420.1_5'UTR	NM_006640.4	NP_006631.2	Q9UHD8	SEPT9_HUMAN	septin 9	91					cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding	p.R73Q(2)		autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			GCGTCCCTGCGGAGGGTGGAG	0.667													10	56					0	0	1	0	0	A	75398336	G	A	75398336	3	1	24	1	0	0	0	0	1	0	0	0	14125	1116	39	1	367	1	SEPT9	17	75398336	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08	10371528	75398336	5796874	105	1387											
LAMA1	284217	broad.mit.edu	37	chr18	7007238	7007238	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggtcccctgtcactccctGctgggagcttccctctgtgg	2	12	12	15	0	2	0	1	0	1	0	5	1	5	1	4	3	2	2	4	3	0	1	rs138028986		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr18:7007238G>A	ENST00000389658.3	-	29	4253	c.4160C>T	c.(4159-4161)gCa>gTa	p.A1387V		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1387	Laminin EGF-like 14; second part.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTCACTCCCTGCTGGGAGCTT	0.557													4	49					0	0	1	0	0	A	7007238	G	A	7007238	3	1	24	1	0	0	0	0	1	0	0	0	8644	1319	46	2	5207	2	LAMA1	18	7007238	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08		7007238	71070010	106	1388											
KLHL14	57565	broad.mit.edu	37	chr18	30350295	30350295	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgacggctgctgctgcggcGgctgctgctggtccttgggg	1	10	19	11	3	0	1	0	1	0	0	1	1	1	1	1	6	5	6	1	6	0	1			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr18:30350295G>T	ENST00000359358.4	-	2	698	c.260C>A	c.(259-261)cCg>cAg	p.P87Q	AC012123.1_ENST00000426194.1_Intron|KLHL14_ENST00000358095.4_Missense_Mutation_p.P87Q	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	87	BTB.					cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						ctgctgcggcggctgctgctg	0.726													4	54					0.00909568	0.00930886	1	1	0	T	30350295	G	T	30350295	3	4	24	1	0	0	0	0	1	0	0	0	8413	1116	39	4	1658	4	KLHL14	18	30350295	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08	23343057	30350295	47726953	107	1389											
KCNG2	26251	broad.mit.edu	37	chr18	77623902	77623902	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accgcagcccgtgcgccttcCgcgccatcgtggcgcttttg	3	9	12	17	7	0	0	0	0	0	0	2	0	1	0	5	1	2	2	5	1	0	3			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr18:77623902C>T	ENST00000316249.3	+	1	235	c.235C>T	c.(235-237)Cgc>Tgc	p.R79C		NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	79					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		GTGCGCCTTCCGCGCCATCGT	0.711													4	14					0	0	1	0	0	T	77623902	C	T	77623902	3	4	24	1	0	0	0	0	1	0	0	0	8072	652	23	1	237	1	KCNG2	18	77623902	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08	47273607	77623902	453346	108	1390											
ADNP2	22850	broad.mit.edu	37	chr18	77896569	77896569	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgatgtggcttcatttttTggaaaaagaaggtatatttg	12	17	10	2	0	1	2	1	1	0	1	1	3	1	3	0	3	0	2	0	3	5	8			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr18:77896569T>C	ENST00000262198.4	+	4	3728	c.3273T>C	c.(3271-3273)ttT>ttC	p.F1091F		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	1091					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.F1091F(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		CTTCATTTTTTGGAAAAAGAA	0.308													9	98					0	0	1	0	0	C	77896569	T	C	77896569	2	2	24	1	0	0	0	0	0	0	0	1	323	1809	63	3		3	ADNP2	18	77896569	Silent	SNP	T	TCGA-CH-5769-01A-11D-1576-08	272667	77896569	180679	109	1391											
HMHA1	23526	broad.mit.edu	37	chr19	1068742	1068742	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggagtgtgtgttgcgtgaCggtgagagccacggggacac	9	7	18	7	3	0	2	0	2	0	1	0	5	0	4	1	4	2	1	1	4	1	1	rs3764655		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr19:1068742C>T	ENST00000313093.2	+	2	651	c.421_splice	c.e2+1	p.D140_splice	HMHA1_ENST00000590214.1_Splice_Site_p.D167_splice|HMHA1_ENST00000539243.2_Splice_Site_p.D156_splice|HMHA1_ENST00000536472.1_Intron|HMHA1_ENST00000586866.1_Splice_Site_p.D144_splice	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	140					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding	p.D140D(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTTGCGTGACGGTGAGAGCC	0.652													13	143					0	0	1	0	0	T	1068742	C	T	1068742	5	4	24	1	0	0	0	0	0	0	1	0	7281	550	19	1	426	1	HMHA1	19	1068742	Splice_Site	SNP	C	TCGA-CH-5769-01A-11D-1576-08		1068742	58060241	110	1392											
ZNF557	79230	broad.mit.edu	37	chr19	7075115	7075115	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgtcctgcccccaactgcCggtgagtcatggggtcctgg	4	9	14	14	2	1	1	1	1	0	0	4	1	3	1	5	4	3	0	5	4	1	0			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr19:7075115C>T	ENST00000414706.1	+	3	503	c.31_splice	c.e3+1	p.A10_splice	ZNF557_ENST00000439035.2_Splice_Site_p.A10_splice|ZNF557_ENST00000252840.6_Splice_Site_p.A10_splice	NM_001044387.1|NM_001044388.1|NM_024341.2	NP_001037852.1|NP_001037853.1|NP_077317.2	Q8N988	ZN557_HUMAN	zinc finger protein 557	10					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		CCCCAACTGCCGGTGAGTCAT	0.642													9	126					0	0	1	0	0	T	7075115	C	T	7075115	5	4	24	1	0	0	0	0	0	0	1	0	18045	666	23	1	32	1	ZNF557	19	7075115	Splice_Site	SNP	C	TCGA-CH-5769-01A-11D-1576-08	6006373	7075115	52053868	111	1393											
MUC16	94025	broad.mit.edu	37	chr19	8976368	8976368	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtatgtccagcccggggcCcacagggtcagggtggtagg	6	7	17	11	1	1	0	1	0	0	0	2	0	2	0	3	6	1	2	3	6	2	2			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr19:8976368C>A	ENST00000397910.4	-	75	42663	c.42460G>T	c.(42460-42462)Ggc>Tgc	p.G14154C	MUC16_ENST00000596956.1_Intron|MUC16_ENST00000380951.5_Missense_Mutation_p.G795C	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14185	SEA 14.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.G14154C(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGCCCGGGGCCCACAGGGTCA	0.597													10	58					1.08611e-07	1.19563e-07	1	1	0	A	8976368	C	A	8976368	3	1	24	1	0	0	0	0	1	0	0	0	10021	623	22	4	1103	4	MUC16	19	8976368	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08	1901253	8976368	50152615	112	1394											
DNMT1	1786	broad.mit.edu	37	chr19	10262102	10262102	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttctccgacccaagagatgCgattcttgttctgtttcttc	6	16	7	12	2	4	1	0	0	4	1	6	4	4	1	2	0	1	2	2	0	1	6			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr19:10262102C>T	ENST00000340748.4	-	23	2424	c.2189G>A	c.(2188-2190)cGc>cAc	p.R730H	DNMT1_ENST00000540357.1_Missense_Mutation_p.R730H|DNMT1_ENST00000359526.4_Missense_Mutation_p.R746H			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	730					chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	p.R730H(2)		breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	CCAAGAGATGCGATTCTTGTT	0.512													17	200					0	0	1	0	0	T	10262102	C	T	10262102	3	4	24	1	0	0	0	0	1	0	0	0	4702	768	27	1	2733	1	DNMT1	19	10262102	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08	1285734	10262102	48866881	113	1395											
ECSIT	51295	broad.mit.edu	37	chr19	11624790	11624790	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accatactcccgcatcttgcGcagggccaggtagatgaagt	10	8	11	12	2	1	2	0	1	1	1	2	2	2	2	3	2	2	3	3	2	3	3			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr19:11624790G>A	ENST00000270517.7	-	3	478	c.343C>T	c.(343-345)Cgc>Tgc	p.R115C	ECSIT_ENST00000588998.1_Intron|ECSIT_ENST00000591104.1_Missense_Mutation_p.R115C|ECSIT_ENST00000252440.7_Missense_Mutation_p.R115C|ECSIT_ENST00000417981.2_Intron|ECSIT_ENST00000592312.1_5'UTR	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN	ECSIT signalling integrator	115					innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding	p.R115C(1)		kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						CGCATCTTGCGCAGGGCCAGG	0.592													6	111					0	0	1	0	0	A	11624790	G	A	11624790	3	1	24	1	0	0	0	0	1	0	0	0	4926	1087	38	1	976	1	ECSIT	19	11624790	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08	1362688	11624790	47504193	114	1396											
HOOK2	29911	broad.mit.edu	37	chr19	12881812	12881812	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctagtcagcgcctggttcCggtgctgcagctccgcaacc	5	8	13	15	3	1	0	1	0	0	0	3	0	3	0	4	3	5	6	4	3	2	2			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr19:12881812C>T	ENST00000264827.5	-	10	1006	c.836G>A	c.(835-837)cGg>cAg	p.R279Q	HOOK2_ENST00000589965.1_Intron|HOOK2_ENST00000397668.3_Missense_Mutation_p.R279Q	NM_001100176.1	NP_001093646.1	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	279	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding	p.R279Q(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						CGCCTGGTTCCGGTGCTGCAG	0.652													4	57					0	0	1	0	0	T	12881812	C	T	12881812	3	4	24	1	0	0	0	0	1	0	0	0	7324	652	23	1	1379	1	HOOK2	19	12881812	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08	1257022	12881812	46247171	115	1397											
RAB3A	5864	broad.mit.edu	37	chr19	18313413	18313413	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgacgaaggcaggcgtgaaCgagtcgtcagcatagcggaa	12	5	15	9	5	1	2	1	2	0	0	2	5	1	3	0	3	3	2	0	3	4	1	rs144222621		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr19:18313413C>T	ENST00000222256.4	-	2	316	c.138G>A	c.(136-138)tcG>tcA	p.S46S	RAB3A_ENST00000464076.2_Intron	NM_002866.4	NP_002857.1	P20336	RAB3A_HUMAN	RAB3A, member RAS oncogene family	46					glutamate secretion|protein transport|small GTPase mediated signal transduction	clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|plasma membrane|synaptic vesicle	GTP binding|GTPase activity	p.S46S(2)		NS(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	8						CAGGCGTGAACGAGTCGTCAG	0.542											OREG0025360	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	42	273					0	0	1	0	0	T	18313413	C	T	18313413	2	4	24	1	0	0	0	0	0	0	0	1	12983	523	19	1		1	RAB3A	19	18313413	Silent	SNP	C	TCGA-CH-5769-01A-11D-1576-08	5431601	18313413	40815570	116	1398											
GMIP	51291	broad.mit.edu	37	chr19	19748980	19748980	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcccaccttggcctgggcCtcctctcgcgagcgccgccg	2	7	13	19	5	1	0	0	0	1	0	3	1	2	0	7	2	2	0	7	2	0	1			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr19:19748980C>A	ENST00000203556.4	-	9	914	c.777G>T	c.(775-777)gaG>gaT	p.E259D	GMIP_ENST00000587238.1_Missense_Mutation_p.E259D|GMIP_ENST00000445806.2_Missense_Mutation_p.E259D	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	259					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TGGCCTGGGCCTCCTCTCGCG	0.771													4	15					1.024e-07	1.13681e-07	1	1	0	A	19748980	C	A	19748980	3	1	24	1	0	0	0	0	1	0	0	0	6533	680	24	4	2187	4	GMIP	19	19748980	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08	1435567	19748980	39380003	117	1399											
ZBTB32	27033	broad.mit.edu	37	chr19	36206307	36206307	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggttggtggggggccagcCtgccctgtggagcatcctgc	3	10	17	11	0	0	0	0	0	0	0	1	1	1	1	4	6	4	2	4	6	0	2			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr19:36206307C>A	ENST00000392197.2	+	3	1097	c.779C>A	c.(778-780)cCt>cAt	p.P260H	ZBTB32_ENST00000262630.3_Missense_Mutation_p.P260H			Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	260					DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	p.P260H(1)		large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGGGGCCAGCCTGCCCTGTGG	0.672													14	135					1.15088e-07	1.25637e-07	1	1	0	A	36206307	C	A	36206307	3	1	24	1	0	0	0	0	1	0	0	0	17594	681	24	4	781	4	ZBTB32	19	36206307	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08	16457327	36206307	22922676	118	1400											
ZNF574	64763	broad.mit.edu	37	chr19	42584668	42584668	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccgggcgccagccccaccGctgcccatcctgtggggctg	3	6	14	18	3	0	0	0	0	0	0	1	0	1	0	7	3	3	2	7	3	0	0			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr19:42584668G>A	ENST00000600245.1	+	2	2565	c.1910G>A	c.(1909-1911)cGc>cAc	p.R637H	ZNF574_ENST00000222339.7_Missense_Mutation_p.R727H|ZNF574_ENST00000359044.4_Missense_Mutation_p.R637H			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	637					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R637H(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				CAGCCCCACCGCTGCCCATCC	0.701													10	199					0	0	1	0	0	A	42584668	G	A	42584668	3	1	24	1	0	0	0	0	1	0	0	0	18063	1087	38	1	1912	1	ZNF574	19	42584668	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08	6378361	42584668	16544315	119	1401											
CLPTM1	1209	broad.mit.edu	37	chr19	45476426	45476426	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggccccggaggagctccaCgcgtcgccagccgcaacctg	6	3	14	18	6	0	0	0	0	0	0	2	2	1	2	6	3	3	2	6	3	1	0			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr19:45476426C>T	ENST00000541297.2	+	3	691	c.226C>T	c.(226-228)Cgc>Tgc	p.R76C	CLPTM1_ENST00000546079.1_5'UTR|CLPTM1_ENST00000337392.5_Missense_Mutation_p.R90C			O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	90					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane		p.R90C(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		AGGAGCTCCACGCGTCGCCAG	0.627													14	119					0	0	1	0	0	T	45476426	C	T	45476426	3	4	24	1	0	0	0	0	1	0	0	0	3577	536	19	1	278	1	CLPTM1	19	45476426	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08	2891758	45476426	13652557	120	1402											
ZNF71	58491	broad.mit.edu	37	chr19	57132798	57132798	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcagctggccagagaggcCgcggggagatgcaggtgcag	9	3	20	9	2	0	2	0	0	0	2	0	4	0	2	2	6	3	4	2	6	0	0			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr19:57132798C>T	ENST00000328070.6	+	3	377	c.143C>T	c.(142-144)cCg>cTg	p.P48L		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	48						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CCAGAGAGGCCGCGGGGAGAT	0.617													9	53					0	0	1	0	0	T	57132798	C	T	57132798	3	4	24	1	0	0	0	0	1	0	0	0	18170	652	23	1	145	1	ZNF71	19	57132798	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08	11656372	57132798	1996185	121	1403											
C20orf96	140680	broad.mit.edu	37	chr20	264701	264701	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctggcagcttgtcaccaccGtagtgggcttgaagtgaaac	9	9	13	10	1	1	2	1	2	0	0	1	2	1	2	2	2	2	5	2	2	3	3			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr20:264701G>A	ENST00000360321.2	-	4	347	c.209C>T	c.(208-210)aCg>aTg	p.T70M	C20orf96_ENST00000400269.3_Missense_Mutation_p.T12M|C20orf96_ENST00000382369.5_Missense_Mutation_p.T35M	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	chromosome 20 open reading frame 96	70								p.T70M(1)		endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			TGTCACCACCGTAGTGGGCTT	0.537													10	104					0	0	1	0	0	A	264701	G	A	264701	3	1	24	1	0	0	0	0	1	0	0	0	2136	1145	40	1	914	1	C20orf96	20	264701	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08		264701	62760819	122	1404											
ENTPD6	0	broad.mit.edu	37	chr20	25195565	25195565	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gactgtgtttccatcatgaaCggaacagatgaaggtaaatg	14	10	11	6	1	1	3	1	2	0	1	2	5	2	4	1	2	2	2	1	2	5	2	rs146741054		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr20:25195565C>T	ENST00000360031.2	+	6	839	c.657C>T	c.(655-657)aaC>aaT	p.N219N	ENTPD6_ENST00000433259.2_Silent_p.N220N|ENTPD6_ENST00000354989.5_Silent_p.N203N|ENTPD6_ENST00000376652.4_Silent_p.N220N	NM_001247.2	NP_001238.2	O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	220						Golgi membrane|integral to membrane	nucleoside-diphosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						CCATCATGAACGGAACAGATG	0.463													4	63					0	0	1	0	0	T	25195565	C	T	25195565	2	4	24	1	0	0	0	0	0	0	0	1	5171	535	19	1		1	ENTPD6	20	25195565	Silent	SNP	C	TCGA-CH-5769-01A-11D-1576-08	24930864	25195565	37829955	123	1405											
GRIK1	2897	broad.mit.edu	37	chr21	31062069	31062069	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgctgtcttcatacaccaCtgtcactgttttccagttgt	6	17	7	11	0	3	0	2	0	1	0	4	0	4	0	2	0	2	3	2	0	1	5	rs143948570		TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr21:31062069C>T	ENST00000399914.1	-	3	1044	c.523G>A	c.(523-525)Gtg>Atg	p.V175M	GRIK1_ENST00000309434.7_Missense_Mutation_p.V175M|GRIK1_ENST00000399909.1_Missense_Mutation_p.V175M|GRIK1_ENST00000327783.4_Missense_Mutation_p.V175M|GRIK1_ENST00000399907.1_Missense_Mutation_p.V175M|GRIK1_ENST00000535441.1_Missense_Mutation_p.V175M|GRIK1_ENST00000389125.3_Missense_Mutation_p.V175M|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000399913.1_Missense_Mutation_p.V175M|GRIK1_ENST00000389124.2_Missense_Mutation_p.V175M			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	175					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	p.V175M(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	TCATACACCACTGTCACTGTT	0.433													20	226					0	0	1	0	0	T	31062069	C	T	31062069	3	4	24	1	0	0	0	0	1	0	0	0	6814	565	20	2	2453	2	GRIK1	21	31062069	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08		31062069	17067826	124	1406											
CCDC157	550631	broad.mit.edu	37	chr22	30768247	30768247	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggataaggagaaggcccGtgtcgacagcatggtccgcc	9	6	15	11	3	0	1	0	0	0	1	2	4	1	2	3	4	1	2	3	4	2	1			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chr22:30768247G>A	ENST00000405659.1	+	7	2016	c.1307G>A	c.(1306-1308)cGt>cAt	p.R436H	CCDC157_ENST00000338306.3_Missense_Mutation_p.R436H			Q569K6	CC157_HUMAN	coiled-coil domain containing 157	436										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						GAGAAGGCCCGTGTCGACAGC	0.662													5	15					0	0	1	0	0	A	30768247	G	A	30768247	3	1	24	1	0	0	0	0	1	0	0	0	2808	1145	40	1	1325	1	CCDC157	22	30768247	Missense_Mutation	SNP	G	TCGA-CH-5769-01A-11D-1576-08		30768247	20536319	125	1407											
DHRSX	207063	broad.mit.edu	37	chrX	2184932	2184932	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccctaggtagttcaggcCgaaatgttcttcgaatccat	9	12	10	10	2	2	0	1	0	1	0	4	2	3	0	3	2	1	3	3	2	4	5			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chrX:2184932C>T	ENST00000334651.5	-	5	497	c.445G>A	c.(445-447)Ggc>Agc	p.G149S	DHRSX_ENST00000464935.1_5'UTR	NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	149							binding|oxidoreductase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TAGTTCAGGCCGAAATGTTCT	0.527													23	253					0	0	1	0	0	T	2184932	C	T	2184932	3	4	24	1	0	0	0	0	1	0	0	0	4527	652	23	1	559	1	DHRSX	23	2184932	Missense_Mutation	SNP	C	TCGA-CH-5769-01A-11D-1576-08		2184932	153085628	126	1408											
FLNA	0	broad.mit.edu	37	chrX	153587627	153587627	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcctcacctggcacttgatgGccaccataggtgacgttgag	8	10	11	12	1	1	3	1	3	0	0	2	3	2	3	4	3	0	2	4	3	1	3			TCGA-CH-5769-01A-11D-1576-08	TCGA-CH-5769-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e552db18-3b5e-43c6-a1b7-ab78d3f2404c	35af79db-a9a4-4373-b07e-bb3a09a0b870	g.chrX:153587627G>A	ENST00000422373.1	-	25	4538	c.4290C>T	c.(4288-4290)ggC>ggT	p.G1430G	FLNA_ENST00000360319.4_Silent_p.G1430G|FLNA_ENST00000344736.4_Silent_p.G1430G|FLNA_ENST00000369850.3_Silent_p.G1430G	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1430					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	p.G1430G(2)		breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCACTTGATGGCCACCATAGG	0.612													9	69					0	0	1	0	0	A	153587627	G	A	153587627	2	1	24	1	0	0	0	0	0	0	0	1	5966	1190	42	2		2	FLNA	23	153587627	Silent	SNP	G	TCGA-CH-5769-01A-11D-1576-08	151402695	153587627	1682933	127	1409											
PRAMEF7	441871	broad.mit.edu	37	chr1	12979764	12979764	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttggtgcccgagcatccGtcaattaaaggagctggacc	9	9	11	12	2	2	0	1	0	1	0	3	3	3	2	3	3	3	2	3	3	3	2			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr1:12979764G>A	ENST00000361079.2	+	4	1039	c.956G>A	c.(955-957)cGt>cAt	p.R319H						PRAME family member 7									p.R319H(2)		endometrium(2)|kidney(5)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	18	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCGAGCATCCGTCAATTAAAG	0.587													8	309					0	0	0.307466	0	0	A	12979764	G	A	12979764	3	1	25	1	0	0	0	0	1	0	0	0	12490	1145	40	1	966	1	PRAMEF7	1	12979764	Missense_Mutation	SNP	G	TCGA-CH-5771-01A-21D-1576-08		12979764	236270857	1	1410											
CSMD2	114784	broad.mit.edu	37	chr1	34112373	34112373	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catagaagcttcctatgagaGggctgagagagtcccgtccg	10	8	13	10	2	0	4	0	2	0	3	3	6	3	4	3	1	1	2	3	1	3	3			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr1:34112373G>A	ENST00000373381.4	-	29	4825	c.4649C>T	c.(4648-4650)cCt>cTt	p.P1550L	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Missense_Mutation_p.P423L	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1510	CUB 9.					integral to membrane|plasma membrane	protein binding	p.P1510L(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TCCTATGAGAGGGCTGAGAGA	0.562													4	35					0	0	0.150653	0	0	A	34112373	G	A	34112373	3	1	25	1	0	0	0	0	1	0	0	0	3970	1000	35	2	6098	2	CSMD2	1	34112373	Missense_Mutation	SNP	G	TCGA-CH-5771-01A-21D-1576-08	21132609	34112373	215138248	2	1411											
KIAA0319L	79932	broad.mit.edu	37	chr1	35915489	35915489	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtttcacctccacagtggTccggtctgtgtcactctcac	6	12	9	14	1	4	0	3	0	2	0	7	0	6	0	3	3	0	1	3	3	0	1			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr1:35915489T>C	ENST00000325722.3	-	15	2566	c.2332A>G	c.(2332-2334)Acc>Gcc	p.T778A	KIAA0319L_ENST00000373266.4_Missense_Mutation_p.T215A|KIAA0319L_ENST00000485551.1_5'UTR	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	778	PKD 5.					cytoplasmic vesicle part|integral to membrane	protein binding	p.T778A(2)		breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TCCACAGTGGTCCGGTCTGTG	0.488													22	154					0	0	0.608945	0	0	C	35915489	T	C	35915489	3	2	25	1	0	0	0	0	1	0	0	0	8211	1667	58	3	845	3	KIAA0319L	1	35915489	Missense_Mutation	SNP	T	TCGA-CH-5771-01A-21D-1576-08	1803116	35915489	213335132	3	1412											
SF3A3	10946	broad.mit.edu	37	chr1	38442585	38442585	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctacatattcatagatctGggcttctagaaaagcaatgt	13	13	7	8	0	4	2	1	0	3	2	4	2	4	2	0	1	2	2	0	1	7	6			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr1:38442585G>T	ENST00000373019.4	-	12	1931	c.976C>A	c.(976-978)Cag>Aag	p.Q326K	SF3A3_ENST00000448721.2_Missense_Mutation_p.Q273K	NM_006802.2	NP_006793.1	Q12874	SF3A3_HUMAN	splicing factor 3a, subunit 3, 60kDa	326					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nuclear speck	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2)	12	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TCATAGATCTGGGCTTCTAGA	0.403													28	185					1.88708e-17	2.51611e-17	0.729181	1	0	T	38442585	G	T	38442585	3	4	25	1	0	0	0	0	1	0	0	0	14202	1357	47	4	553	4	SF3A3	1	38442585	Missense_Mutation	SNP	G	TCGA-CH-5771-01A-21D-1576-08	2527096	38442585	210808036	4	1413											
ZFYVE9	9372	broad.mit.edu	37	chr1	52704167	52704167	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgactgtgaacggtgttcaGattgccttgtgcctaatgaa	10	13	11	7	1	1	4	1	3	0	1	1	4	1	4	2	1	3	1	2	1	3	4			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr1:52704167G>C	ENST00000287727.3	+	4	1250	c.1078G>C	c.(1078-1080)Gat>Cat	p.D360H	ZFYVE9_ENST00000361625.1_Missense_Mutation_p.D360H|ZFYVE9_ENST00000371591.1_Missense_Mutation_p.D360H|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.D360H	NM_004799.2	NP_004790.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	360					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity	p.D360H(1)		breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						ACGGTGTTCAGATTGCCTTGT	0.428													17	206					0	0	0.557998	0	0	C	52704167	G	C	52704167	3	2	25	1	0	0	0	0	1	0	0	0	17729	942	33	4	1084	4	ZFYVE9	1	52704167	Missense_Mutation	SNP	G	TCGA-CH-5771-01A-21D-1576-08	14261582	52704167	196546454	5	1414											
SEMA4A	64218	broad.mit.edu	37	chr1	156131152	156131152	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccagaatgacgtgggcggcGaaaagctgctgcagaagaag	13	4	15	9	3	0	4	0	1	0	3	0	5	0	4	1	2	3	3	1	2	5	0			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr1:156131152G>A	ENST00000368285.3	+	9	1093	c.826G>A	c.(826-828)Gaa>Aaa	p.E276K	SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000355014.2_Missense_Mutation_p.E276K|SEMA4A_ENST00000368286.2_Missense_Mutation_p.E144K|SEMA4A_ENST00000368282.1_Missense_Mutation_p.E276K|SEMA4A_ENST00000368284.1_Missense_Mutation_p.E144K	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	276	Sema.				axon guidance	integral to membrane|plasma membrane	receptor activity	p.E276K(1)		breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					CGTGGGCGGCGAAAAGCTGCT	0.726													10	59					0	0	0.335167	0	0	A	156131152	G	A	156131152	3	1	25	1	0	0	0	0	1	0	0	0	14085	1059	37	1	856	1	SEMA4A	1	156131152	Missense_Mutation	SNP	G	TCGA-CH-5771-01A-21D-1576-08	103426985	156131152	93119469	6	1415											
TNN	63923	broad.mit.edu	37	chr1	175046577	175046577	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagtctccaggagatgttccGcttccctatggggctcctgc	5	11	12	13	1	1	1	0	0	1	1	5	3	4	1	4	3	1	3	4	3	1	3			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr1:175046577G>A	ENST00000239462.4	+	2	136	c.23G>A	c.(22-24)cGc>cAc	p.R8H		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	8					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.R8H(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GAGATGTTCCGCTTCCCTATG	0.572													8	239					0	0	0.27861	0	0	A	175046577	G	A	175046577	3	1	25	1	0	0	0	0	1	0	0	0	16383	1087	38	1	25	1	TNN	1	175046577	Missense_Mutation	SNP	G	TCGA-CH-5771-01A-21D-1576-08	18915425	175046577	74204044	7	1416											
SCN7A	6332	broad.mit.edu	37	chr2	167262388	167262388	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacatcttgacccataactCtctttgtaaaagcaagtaag	14	12	5	10	0	3	1	1	1	2	0	4	1	3	1	1	0	2	3	1	0	5	5			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr2:167262388C>A	ENST00000409855.1	-	25	4877	c.4751G>T	c.(4750-4752)aGa>aTa	p.R1584I		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1584					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R1584I(3)		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						ACCCATAACTCTCTTTGTAAA	0.428													51	357					2.31418e-15	3.00844e-15	0.870114	1	0	A	167262388	C	A	167262388	3	1	25	1	0	0	0	0	1	0	0	0	13977	913	32	4	301	4	SCN7A	2	167262388	Missense_Mutation	SNP	C	TCGA-CH-5771-01A-21D-1576-08		167262388	75936985	8	1417											
PDGFRA	5156	broad.mit.edu	37	chr4	55138618	55138618	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctcaactgggggacagaCggtgaggtgcacagctgaag	10	6	17	8	1	1	3	1	2	0	1	1	4	1	4	0	5	3	3	0	5	2	0			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr4:55138618C>T	ENST00000257290.5	+	9	1626	c.1295C>T	c.(1294-1296)aCg>aTg	p.T432M	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	432	Ig-like C2-type 5.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.T432M(2)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	GGGGGACAGACGGTGAGGTGC	0.473			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			17	118					0	0	0.539581	0	0	T	55138618	C	T	55138618	3	4	25	1	0	0	0	0	1	0	0	0	11708	536	19	1	1325	1	PDGFRA	4	55138618	Missense_Mutation	SNP	C	TCGA-CH-5771-01A-21D-1576-08		55138618	136015658	9	1418											
ANK2	287	broad.mit.edu	37	chr4	114251487	114251487	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccgaatcattattccacctCggaaatgtactgctccaacg	11	11	6	13	3	1	0	1	0	0	0	5	2	4	1	4	1	3	2	4	1	5	3			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr4:114251487C>T	ENST00000357077.4	+	27	3039	c.2986C>T	c.(2986-2988)Cgg>Tgg	p.R996W	ANK2_ENST00000264366.6_Missense_Mutation_p.R996W|ANK2_ENST00000394537.3_Missense_Mutation_p.R996W|ANK2_ENST00000509550.1_Missense_Mutation_p.R205W|ANK2_ENST00000506722.1_Missense_Mutation_p.R987W	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	996	Interaction with SPTBN1.|ZU5.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.R996W(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TATTCCACCTCGGAAATGTAC	0.512													7	59					0	0	0.307466	0	0	T	114251487	C	T	114251487	3	4	25	1	0	0	0	0	1	0	0	0	617	875	31	1	3157	1	ANK2	4	114251487	Missense_Mutation	SNP	C	TCGA-CH-5771-01A-21D-1576-08	59112869	114251487	76902789	10	1419											
SV2C	22987	broad.mit.edu	37	chr5	75427791	75427791	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggtgaggccaacgatgaCgaaggctcaagtgaagccac	14	5	13	9	2	1	3	1	3	0	0	1	5	1	3	2	3	2	1	2	3	5	0			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr5:75427791C>T	ENST00000502798.2	+	2	658	c.216C>T	c.(214-216)gaC>gaT	p.D72D	SV2C_ENST00000322285.7_Silent_p.D72D	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	72					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	p.D72D(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		CCAACGATGACGAAGGCTCAA	0.498													7	52					0	0	0.27861	0	0	T	75427791	C	T	75427791	2	4	25	1	0	0	0	0	0	0	0	1	15475	535	19	1		1	SV2C	5	75427791	Silent	SNP	C	TCGA-CH-5771-01A-21D-1576-08		75427791	105487469	11	1420											
CDKN2AIPNL	91368	broad.mit.edu	37	chr5	133747428	133747428	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgcaggatgaattccatgcGggccttccattgcttctcgc	6	11	11	13	3	1	1	0	1	1	0	4	2	3	2	3	2	2	2	3	2	1	4			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr5:133747428G>A	ENST00000458198.2	-	1	161	c.118C>T	c.(118-120)Cgc>Tgc	p.R40C	CDKN2AIPNL_ENST00000395009.3_Missense_Mutation_p.R40C	NM_080656.2	NP_542387.1	Q96HQ2	C2AIL_HUMAN	CDKN2A interacting protein N-terminal like	40								p.R40C(1)		central_nervous_system(1)|kidney(2)|prostate(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AATTCCATGCGGGCCTTCCAT	0.677											OREG0016789	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	32					0	0	0.115264	0	0	A	133747428	G	A	133747428	3	1	25	1	0	0	0	0	1	0	0	0	3185	1116	39	1	244	1	CDKN2AIPNL	5	133747428	Missense_Mutation	SNP	G	TCGA-CH-5771-01A-21D-1576-08	58319637	133747428	47167832	12	1421											
KIAA1324L	222223	broad.mit.edu	37	chr7	86556150	86556150	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggcggacaatccttcttcTctccagaagggggcaatcta	11	9	10	11	1	3	1	0	0	3	1	6	2	5	2	2	4	0	1	2	4	5	3			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr7:86556150T>C	ENST00000450689.2	-	9	1357	c.1172A>G	c.(1171-1173)gAg>gGg	p.E391G	KIAA1324L_ENST00000444627.1_Missense_Mutation_p.E391G|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.E224G|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.E151G	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	391						integral to membrane		p.E151G(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					ATCCTTCTTCTCTCCAGAAGG	0.428													14	265					0	0	0.457914	0	0	C	86556150	T	C	86556150	3	2	25	1	0	0	0	0	1	0	0	0	8266	1551	54	3	1973	3	KIAA1324L	7	86556150	Missense_Mutation	SNP	T	TCGA-CH-5771-01A-21D-1576-08		86556150	72582513	13	1422											
MET	0	broad.mit.edu	37	chr7	116340051	116340051	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtattctcacagaaaagagaAaaaagagatccacaaagaag	22	5	8	6	0	1	4	1	0	1	4	3	6	2	4	1	0	0	1	1	0	8	2			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr7:116340051A>G	ENST00000397752.3	+	2	1113	c.913A>G	c.(913-915)Aaa>Gaa	p.K305E	MET_ENST00000318493.6_Missense_Mutation_p.K305E|MET_ENST00000436117.2_Missense_Mutation_p.K305E	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	305	Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	p.K305E(2)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			AGAAAAGAGAAAAAAGAGATC	0.428			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				11	202					0	0	0.361761	0	0	G	116340051	A	G	116340051	3	3	25	1	0	0	0	0	1	0	0	0	9535	15	1	3	915	3	MET	7	116340051	Missense_Mutation	SNP	A	TCGA-CH-5771-01A-21D-1576-08	29783901	116340051	42798612	14	1423											
RP1	6101	broad.mit.edu	37	chr8	55540711	55540711	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctagatgattttgaaaattgTtcactaaggaagtttcagga	14	14	9	4	0	2	3	2	2	0	1	2	5	2	5	0	2	0	2	0	2	5	7			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr8:55540711T>A	ENST00000220676.1	+	4	4417	c.4269T>A	c.(4267-4269)tgT>tgA	p.C1423*		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1423					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.C1423*(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TTGAAAATTGTTCACTAAGGA	0.363													15	110					0	0	0.500413	0	0	A	55540711	T	A	55540711	4	1	25	1	0	0	0	0	0	1	0	0	13584	1731	60	5	4279	5	RP1	8	55540711	Nonsense_Mutation	SNP	T	TCGA-CH-5771-01A-21D-1576-08		55540711	90823311	15	1424											
MSC	9242	broad.mit.edu	37	chr8	72756371	72756371	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtactcccgctgcagcccccGaagctccatctcctccggat	6	8	8	19	3	1	0	0	0	1	0	5	2	4	1	6	1	4	4	6	1	2	1			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr8:72756371G>A	ENST00000325509.4	-	1	332	c.43C>T	c.(43-45)Cgg>Tgg	p.R15W	RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000457356.4_3'UTR|RP11-383H13.1_ENST00000521467.1_Intron	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin	15					transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.R15W(1)		endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			TGCAGCCCCCGAAGCTCCATC	0.692													4	21					0	0	0.150653	0	0	A	72756371	G	A	72756371	3	1	25	1	0	0	0	0	1	0	0	0	9917	1057	37	1	585	1	MSC	8	72756371	Missense_Mutation	SNP	G	TCGA-CH-5771-01A-21D-1576-08	17215660	72756371	73607651	16	1425											
RNF26	79102	broad.mit.edu	37	chr11	119207000	119207000	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaggaccagagcaagacaGtgttgctcctgccctgccgg	8	6	13	14	1	0	2	0	0	0	2	1	3	1	3	5	2	4	3	5	2	1	1			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr11:119207000G>T	ENST00000311413.4	+	1	1764	c.1168G>T	c.(1168-1170)Gtg>Ttg	p.V390L	RP11-334E6.10_ENST00000501918.2_RNA	NM_032015.4	NP_114404.1	Q9BY78	RNF26_HUMAN	ring finger protein 26	390							zinc ion binding	p.V390L(1)		cervix(1)|endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)		GAGCAAGACAGTGTTGCTCCT	0.607													16	95					4.75885e-15	6.03561e-15	0.520397	1	0	T	119207000	G	T	119207000	3	4	25	1	0	0	0	0	1	0	0	0	13538	1029	36	4	1170	4	RNF26	11	119207000	Missense_Mutation	SNP	G	TCGA-CH-5771-01A-21D-1576-08		119207000	15799516	17	1426											
BIN2	51411	broad.mit.edu	37	chr12	51696475	51696475	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaagccactcttacccataCgatggccttcagctcctcat	9	11	5	16	1	4	0	3	0	1	0	5	1	5	0	4	1	4	1	4	1	3	3			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr12:51696475C>T	ENST00000267012.4	-	4	368	c.307G>A	c.(307-309)Gta>Ata	p.V103I	BIN2_ENST00000452142.2_Missense_Mutation_p.V103I|BIN2_ENST00000604560.1_Missense_Mutation_p.V76I|BIN2_ENST00000544402.1_Missense_Mutation_p.V77I	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	103	BAR.					cytoplasm	protein binding	p.V103I(1)		NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						CTTACCCATACGATGGCCTTC	0.448													47	320					0	0	0.870114	0	0	T	51696475	C	T	51696475	3	4	25	1	0	0	0	0	1	0	0	0	1432	536	19	1	1430	1	BIN2	12	51696475	Missense_Mutation	SNP	C	TCGA-CH-5771-01A-21D-1576-08		51696475	82155420	18	1427											
SBNO1	55206	broad.mit.edu	37	chr12	123834911	123834911	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccctgcatctccaccatcAatatcaaagaggtcattcgg	12	9	7	13	1	4	1	3	0	1	1	6	1	4	1	3	2	2	1	3	2	3	2			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr12:123834911A>G	ENST00000420886.2	-	1	77	c.78T>C	c.(76-78)atT>atC	p.I26I	SBNO1_ENST00000602750.1_Silent_p.I26I|SBNO1_ENST00000602398.1_Silent_p.I26I|SBNO1_ENST00000267176.4_Silent_p.I26I	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	26							ATP binding|DNA binding|hydrolase activity	p.I26I(2)		NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CTCCACCATCAATATCAAAGA	0.438													16	386					0	0	0.520397	0	0	G	123834911	A	G	123834911	2	3	25	1	0	0	0	0	0	0	0	1	13915	126	5	3		3	SBNO1	12	123834911	Silent	SNP	A	TCGA-CH-5771-01A-21D-1576-08	72138436	123834911	10016984	19	1428											
CLMN	79789	broad.mit.edu	37	chr14	95670136	95670136	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgactttcttcatcgtggCgggctgtactctctaaagca	8	13	10	10	2	3	1	1	1	2	0	5	1	3	1	0	2	2	3	0	2	3	4	rs78561092	byFrequency	TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr14:95670136C>T	ENST00000298912.4	-	9	1663	c.1550G>A	c.(1549-1551)cGc>cAc	p.R517H		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	517						integral to membrane	actin binding	p.R517H(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		TTCATCGTGGCGGGCTGTACT	0.458													11	112					0	0	0.361761	0	0	T	95670136	C	T	95670136	3	4	25	1	0	0	0	0	1	0	0	0	3565	768	27	1	1478	1	CLMN	14	95670136	Missense_Mutation	SNP	C	TCGA-CH-5771-01A-21D-1576-08		95670136	11679404	20	1429											
ATG2B	55102	broad.mit.edu	37	chr14	96800092	96800092	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgaagatacacccacagaGagggaatcttttctcaaata	15	10	7	9	0	3	3	1	1	3	2	4	5	3	4	1	1	1	0	1	1	5	4			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr14:96800092G>A	ENST00000359933.4	-	8	2033	c.1140C>T	c.(1138-1140)ctC>ctT	p.L380L		NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	380								p.L380L(1)		breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CACCCACAGAGAGGGAATCTT	0.413													4	165					0	0	0.184627	0	0	A	96800092	G	A	96800092	2	1	25	1	0	0	0	0	0	0	0	1	1093	929	33	2		2	ATG2B	14	96800092	Silent	SNP	G	TCGA-CH-5771-01A-21D-1576-08	1129956	96800092	10549448	21	1430											
UBR1	197131	broad.mit.edu	37	chr15	43276106	43276106	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agactctacctgatagaagaCgaaccagatgtttctgtatc	13	11	8	9	1	2	5	0	1	2	4	3	6	2	5	2	0	2	2	2	0	5	4			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr15:43276106C>T	ENST00000290650.4	-	37	4217	c.4139G>A	c.(4138-4140)cGt>cAt	p.R1380H	UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1380					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding	p.R1380H(1)		NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		TGATAGAAGACGAACCAGATG	0.348													5	50					0	0	0.217242	0	0	T	43276106	C	T	43276106	3	4	25	1	0	0	0	0	1	0	0	0	16962	536	19	1	1154	1	UBR1	15	43276106	Missense_Mutation	SNP	C	TCGA-CH-5771-01A-21D-1576-08		43276106	59255286	22	1431											
FBN1	2200	broad.mit.edu	37	chr15	48729540	48729540	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aactgctgaatcatcaggtcCcacgatgatcccacttccat	11	10	6	14	1	2	2	2	2	0	0	5	3	5	2	3	1	2	1	3	1	2	1			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr15:48729540C>T	ENST00000316623.5	-	52	6813	c.6358G>A	c.(6358-6360)Gga>Aga	p.G2120R		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	2120					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	p.G2120R(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TCATCAGGTCCCACGATGATC	0.423													3	59					0	0	0.115264	0	0	T	48729540	C	T	48729540	3	4	25	1	0	0	0	0	1	0	0	0	5735	632	22	2	2317	2	FBN1	15	48729540	Missense_Mutation	SNP	C	TCGA-CH-5771-01A-21D-1576-08	5453434	48729540	53801852	23	1432											
MRPL28	10573	broad.mit.edu	37	chr16	418564	418564	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggtgcagctgggggtcctgCcgggcaagccgcagcagcat	6	5	18	12	2	0	0	0	0	0	0	1	0	1	0	3	4	6	6	3	4	1	0			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr16:418564C>T	ENST00000199706.8	-	4	548	c.513G>A	c.(511-513)cgG>cgA	p.R171R	MRPL28_ENST00000389675.2_Silent_p.R171R|MRPL28_ENST00000429738.1_Intron	NM_006428.4	NP_006419.2	Q13084	RM28_HUMAN	mitochondrial ribosomal protein L28	171					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome	p.R171R(1)		breast(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)	5		Hepatocellular(16;0.000105)|Lung NSC(18;0.0324)|all_lung(18;0.064)				GGGGGTCCTGCCGGGCAAGCC	0.657													7	64					0	0	0.307466	0	0	T	418564	C	T	418564	2	4	25	1	0	0	0	0	0	0	0	1	9841	726	26	2		2	MRPL28	16	418564	Silent	SNP	C	TCGA-CH-5771-01A-21D-1576-08		418564	89936189	24	1433											
SLC13A5	284111	broad.mit.edu	37	chr17	6597493	6597493	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcagggtggccacaaagatgGccacagtggcatcggagaca	12	4	15	10	1	0	2	0	0	0	2	1	3	0	2	2	5	0	2	2	5	1	0			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr17:6597493G>A	ENST00000433363.2	-	8	1312	c.1079C>T	c.(1078-1080)gCc>gTc	p.A360V	SLC13A5_ENST00000293800.6_Missense_Mutation_p.A343V|SLC13A5_ENST00000573648.1_Missense_Mutation_p.A360V|SLC13A5_ENST00000381074.4_Missense_Mutation_p.A317V	NM_177550.3	NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	360						integral to membrane	citrate transmembrane transporter activity	p.A360V(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						CACAAAGATGGCCACAGTGGC	0.522													6	28					0	0	0.248553	0	0	A	6597493	G	A	6597493	3	1	25	1	0	0	0	0	1	0	0	0	14450	1203	42	2	647	2	SLC13A5	17	6597493	Missense_Mutation	SNP	G	TCGA-CH-5771-01A-21D-1576-08		6597493	74597717	25	1434											
NEUROD2	4761	broad.mit.edu	37	chr17	37762300	37762308	+	In_Frame_Del	DEL	GGTCTGGCC	GGTCTGGCC	-																															agtctgcacgtaggacactaGgtctggccgcttgccggagc																										TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr17:37762300_37762308delGGTCTGGCC	ENST00000302584.4	-	2	765_773	c.545_553delGGCCAGACC	c.(544-555)cta>c	p.RPDL182del		NM_006160.3	NP_006151.3	Q15784	NDF2_HUMAN	neuronal differentiation 2	182					cellular response to calcium ion|cellular response to electrical stimulus|cerebellar cortex development|negative regulation of synapse maturation|positive regulation of calcium-mediated signaling|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of synapse maturation|positive regulation of synaptic plasticity|protein ubiquitination|regulation of transcription from RNA polymerase II promoter	nucleus	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664)			TAGGACACTAGGTCTGGCCGCTTGCCGGA	0.603													8	81	---	---	---	---						-	37762308	GGTCTGGCC	-	37762300	7	5	25	1	0	1	0	1	0	0	0	0	10396	991	35	0	599	0	NEUROD2	17	37762300	In_Frame_Del	DEL	GGTCTGGCC	TCGA-CH-5771-01A-21D-1576-08	31164807	37762300	43432910	26	1435											
MARK4	57787	broad.mit.edu	37	chr19	45762287	45762287	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgctcctcggacaaaggccCgtcctggtccagccgctcac	6	6	10	19	4	1	0	1	0	0	0	5	1	4	1	6	3	1	2	6	3	1	0			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr19:45762287C>T	ENST00000300843.4	+	2	389	c.92C>T	c.(91-93)cCg>cTg	p.P31L	MARK4_ENST00000262891.4_Missense_Mutation_p.P31L	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	31					microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding	p.P31L(2)		NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GACAAAGGCCCGTCCTGGTCC	0.672													6	26					0	0	0.27861	0	0	T	45762287	C	T	45762287	3	4	25	1	0	0	0	0	1	0	0	0	9365	652	23	1	98	1	MARK4	19	45762287	Missense_Mutation	SNP	C	TCGA-CH-5771-01A-21D-1576-08		45762287	13366696	27	1436											
SNPH	9751	broad.mit.edu	37	chr20	1276943	1276943	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcccggccctttctgcgggCcccccaacccgccctctctc	2	7	9	23	3	2	0	0	0	2	0	4	0	2	0	7	3	2	0	7	3	1	1			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr20:1276943C>A	ENST00000381867.1	+	4	702	c.60C>A	c.(58-60)ggC>ggA	p.G20G	RAD21L1_ENST00000402452.1_Intron|RAD21L1_ENST00000381882.2_Intron|SNPH_ENST00000381873.3_Intron			O15079	SNPH_HUMAN	syntaphilin	0					synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding	p.G20G(1)		endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TTTCTGCGGGCCCCCCAACCC	0.687													4	7					0.00909568	0.0102821	0.150653	1	0	A	1276943	C	A	1276943	2	1	25	1	0	0	0	0	0	0	0	1	14904	754	26	4		4	SNPH	20	1276943	Silent	SNP	C	TCGA-CH-5771-01A-21D-1576-08		1276943	61748577	28	1437											
NPEPL1	79716	broad.mit.edu	37	chr20	57290253	57290253	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccacaggcttcggtgtggcCctcctgctggcgctcttcgg	2	10	14	15	3	1	0	0	0	1	0	4	0	2	0	3	5	1	3	3	5	0	2			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chr20:57290253C>T	ENST00000356091.6	+	12	1731	c.1443C>T	c.(1441-1443)gcC>gcT	p.A481A	STX16-NPEPL1_ENST00000530122.1_3'UTR|NPEPL1_ENST00000525967.1_Silent_p.A453A|NPEPL1_ENST00000525817.1_Silent_p.A433A	NM_024663.3	NP_078939.3	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	481					proteolysis	cytoplasm	aminopeptidase activity|manganese ion binding|metalloexopeptidase activity	p.A481A(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			TCGGTGTGGCCCTCCTGCTGG	0.672													5	9					0	0	0.184627	0	0	T	57290253	C	T	57290253	2	4	25	1	0	0	0	0	0	0	0	1	10621	610	22	2		2	NPEPL1	20	57290253	Silent	SNP	C	TCGA-CH-5771-01A-21D-1576-08	56013310	57290253	5735267	29	1438											
DMD	1756	broad.mit.edu	37	chrX	31676189	31676189	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcatctgcagaataatcccGgagaagtttcagggccaagt	13	9	10	9	1	3	2	2	0	1	2	4	3	4	2	2	2	1	2	2	2	4	2			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chrX:31676189G>A	ENST00000357033.4	-	54	8151	c.7945C>T	c.(7945-7947)Cgg>Tgg	p.R2649W	DMD_ENST00000378677.2_Missense_Mutation_p.R2645W|DMD_ENST00000474231.1_Missense_Mutation_p.R189W|DMD_ENST00000378707.3_Missense_Mutation_p.R189W|DMD_ENST00000343523.2_Missense_Mutation_p.R189W|DMD_ENST00000359836.1_Missense_Mutation_p.R189W|DMD_ENST00000541735.1_Missense_Mutation_p.R189W	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2649					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.R189W(2)|p.R2645W(2)|p.R2644W(1)|p.R1308W(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GAATAATCCCGGAGAAGTTTC	0.393													38	113					0	0	0.796494	0	0	A	31676189	G	A	31676189	3	1	25	1	0	0	0	0	1	0	0	0	4608	1115	39	1	3364	1	DMD	23	31676189	Missense_Mutation	SNP	G	TCGA-CH-5771-01A-21D-1576-08		31676189	123594371	30	1439											
CDR1	1038	broad.mit.edu	37	chrX	139866376	139866376	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagcaaatccacgtcttcCaacaaagccatgtcttccat	12	10	4	15	1	2	0	0	0	2	0	6	0	6	0	5	0	3	1	5	0	3	2			TCGA-CH-5771-01A-21D-1576-08	TCGA-CH-5771-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87e1ffee-a8cd-4d75-937e-ed415cf43546	d75f9a49-dfc3-493b-b9dd-4940d9803cfd	g.chrX:139866376C>A	ENST00000370532.2	-	1	347	c.156G>T	c.(154-156)ttG>ttT	p.L52F		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	52	23 X 6 AA approximate repeats.							p.L52F(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				CCACGTCTTCCAACAAAGCCA	0.438													37	101					1.26612e-14	1.56757e-14	0.779181	1	0	A	139866376	C	A	139866376	3	1	25	1	0	0	0	0	1	0	0	0	3193	593	21	4	636	4	CDR1	23	139866376	Missense_Mutation	SNP	C	TCGA-CH-5771-01A-21D-1576-08	108190187	139866376	15404184	31	1440											
RHD	6007	broad.mit.edu	37	chr1	25617207	25617207	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggggaaggtcaacttggcGcagttggtggtgatggtgct	6	12	18	5	1	1	1	1	1	0	0	1	2	1	2	0	7	2	3	0	7	2	3			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr1:25617207G>A	ENST00000328664.4	+	3	566	c.411G>A	c.(409-411)gcG>gcA	p.A137A	RHD_ENST00000454452.2_Silent_p.A137A|RHD_ENST00000568195.1_Silent_p.A137A|RHD_ENST00000423810.2_Silent_p.A137A|RHD_ENST00000423253.1_3'UTR|RHD_ENST00000417538.2_Silent_p.A137A|RHD_ENST00000357542.4_Silent_p.A137A|RHD_ENST00000342055.5_Silent_p.A137A	NM_016124.3	NP_057208.2	Q02161	RHD_HUMAN	Rh blood group, D antigen	137						integral to plasma membrane		p.A137A(1)		breast(2)|large_intestine(4)|lung(7)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCAACTTGGCGCAGTTGGTGG	0.557													4	73					0	0	0.150653	0	0	A	25617207	G	A	25617207	2	1	26	1	0	0	0	0	0	0	0	1	13377	1074	38	1		1	RHD	1	25617207	Silent	SNP	G	TCGA-CH-5772-01A-11D-1576-08		25617207	223633414	1	1441											
TMEM56	148534	broad.mit.edu	37	chr1	95616924	95616924	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggaaagtgattggtgacaaAttttttataatgcatcattg	13	16	9	3	0	1	2	1	2	0	0	1	3	1	3	0	2	1	1	0	2	4	6			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr1:95616924A>T	ENST00000370203.4	+	5	639	c.348A>T	c.(346-348)aaA>aaT	p.K116N	RP11-57H12.6_ENST00000604534.1_Missense_Mutation_p.K116N	NM_001199679.1|NM_152487.2	NP_001186608.1|NP_689700.1	Q96MV1	TMM56_HUMAN	transmembrane protein 56	116	TLC.					integral to membrane		p.K116N(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	12		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.133)		TTGGTGACAAATTTTTTATAA	0.348													7	188					0	0	0.248553	0	0	T	95616924	A	T	95616924	3	4	26	1	0	0	0	0	1	0	0	0	16243	98	4	5	362	5	TMEM56	1	95616924	Missense_Mutation	SNP	A	TCGA-CH-5772-01A-11D-1576-08	69999717	95616924	153633697	2	1442											
S100A7A	338324	broad.mit.edu	37	chr1	153391728	153391728	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttgctgggagacatagcCgcagactaccacaagcagag	12	6	11	12	1	0	3	0	0	0	3	1	4	1	3	3	1	4	3	3	1	3	3			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr1:153391728C>T	ENST00000368729.4	+	3	306	c.249C>T	c.(247-249)gcC>gcT	p.A83A	S100A7A_ENST00000368728.2_Silent_p.A83A|S100A7A_ENST00000329256.2_Silent_p.A83A	NM_176823.3	NP_789793.1	Q86SG5	S1A7A_HUMAN	S100 calcium binding protein A7A	83	EF-hand 2.					cytoplasm	calcium ion binding	p.A83A(2)		cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	12	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAGACATAGCCGCAGACTACC	0.522													6	104					0	0	0.217242	0	0	T	153391728	C	T	153391728	2	4	26	1	0	0	0	0	0	0	0	1	13836	639	23	1		1	S100A7A	1	153391728	Silent	SNP	C	TCGA-CH-5772-01A-11D-1576-08	57774804	153391728	95858893	3	1443											
ADAM15	8751	broad.mit.edu	37	chr1	155028577	155028577	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttccggcccctgaatgtaCgagtggcactagtgggcctg	6	10	13	12	2	1	1	0	1	1	0	2	2	2	1	4	3	1	2	4	3	3	3			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr1:155028577C>T	ENST00000356955.2	+	9	867	c.766C>T	c.(766-768)Cga>Tga	p.R256*	ADAM15_ENST00000355956.2_Nonsense_Mutation_p.R256*|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000368412.3_Nonsense_Mutation_p.R256*|ADAM15_ENST00000447332.3_Nonsense_Mutation_p.R240*|ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000271836.6_Nonsense_Mutation_p.R256*|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000449910.2_Nonsense_Mutation_p.R256*|ADAM15_ENST00000531455.1_Nonsense_Mutation_p.R266*|ADAM15_ENST00000360674.4_Nonsense_Mutation_p.R256*|ADAM15_ENST00000359280.4_Nonsense_Mutation_p.R256*	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	256	Peptidase M12B.				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	p.R256*(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CCTGAATGTACGAGTGGCACT	0.627													19	137					0	0	0.575678	0	0	T	155028577	C	T	155028577	4	4	26	1	0	0	0	0	0	1	0	0	236	528	19	1	800	1	ADAM15	1	155028577	Nonsense_Mutation	SNP	C	TCGA-CH-5772-01A-11D-1576-08	1636849	155028577	94222044	4	1444											
OR6N1	128372	broad.mit.edu	37	chr1	158736387	158736387	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtaaatgagaagcaacaagAggaagagataaatctggaca	20	5	12	4	0	1	3	0	1	1	3	1	7	1	5	0	3	2	2	0	3	8	2			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr1:158736387A>T	ENST00000335094.2	-	1	105	c.86T>A	c.(85-87)cTc>cAc	p.L29H		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L29H(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					AAGCAACAAGAGGAAGAGATA	0.502													4	88					0	0	0.150653	0	0	T	158736387	A	T	158736387	3	4	26	1	0	0	0	0	1	0	0	0	11253	304	11	5	855	5	OR6N1	1	158736387	Missense_Mutation	SNP	A	TCGA-CH-5772-01A-11D-1576-08	3707810	158736387	90514234	5	1445											
AIM2	9447	broad.mit.edu	37	chr1	159038445	159038445	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcagcaggactcatttcagcTtgacttagtggctttggttt	7	15	11	8	0	2	1	2	1	0	0	2	2	2	2	0	3	2	5	0	3	1	5			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr1:159038445T>G	ENST00000368130.4	-	3	597	c.309A>C	c.(307-309)caA>caC	p.Q103H	AIM2_ENST00000481829.1_5'UTR	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	103					cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus		p.Q103H(1)		breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					TCATTTCAGCTTGACTTAGTG	0.408													7	266					0	0	0.27861	0	0	G	159038445	T	G	159038445	3	3	26	1	0	0	0	0	1	0	0	0	429	1606	56	5	738	5	AIM2	1	159038445	Missense_Mutation	SNP	T	TCGA-CH-5772-01A-11D-1576-08	302058	159038445	90212176	6	1446											
DTL	51514	broad.mit.edu	37	chr1	212274088	212274088	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccaagttgaaaatcttcatTtggatctgtgctgccttgct	8	15	9	9	0	3	1	1	1	2	0	3	2	3	2	2	1	3	3	2	1	3	4			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr1:212274088T>C	ENST00000366991.4	+	14	2070	c.1756T>C	c.(1756-1758)Ttg>Ctg	p.L586L	DTL_ENST00000475419.1_3'UTR|DTL_ENST00000542077.1_Silent_p.L544L	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN	denticleless E3 ubiquitin protein ligase homolog (Drosophila)	586					DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane	protein binding	p.L586L(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		AAATCTTCATTTGGATCTGTG	0.453													16	169					0	0	0.479597	0	0	C	212274088	T	C	212274088	2	2	26	1	0	0	0	0	0	0	0	1	4813	1838	64	3		3	DTL	1	212274088	Silent	SNP	T	TCGA-CH-5772-01A-11D-1576-08	53235643	212274088	36976533	7	1447											
OR2T33	391195	broad.mit.edu	37	chr1	248437020	248437020	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccaaacagggaggtcaaaaCgatactcagaaccatcatga	17	5	9	10	1	3	2	3	1	0	1	3	4	3	3	2	2	4	0	2	2	5	1	rs138653777		TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr1:248437020C>T	ENST00000318021.2	-	1	118	c.97G>A	c.(97-99)Gtt>Att	p.V33I		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V33I(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GAGGTCAAAACGATACTCAGA	0.478													5	171					0	0	0.307466	0	0	T	248437020	C	T	248437020	3	4	26	1	0	0	0	0	1	0	0	0	11072	536	19	1	868	1	OR2T33	1	248437020	Missense_Mutation	SNP	C	TCGA-CH-5772-01A-11D-1576-08	36162932	248437020	813601	8	1448											
OR2T6	254879	broad.mit.edu	37	chr1	248551359	248551359	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcctggccagctcttggttCggtggggctttggacagttt	4	14	14	9	1	1	0	0	0	1	0	3	1	2	1	2	6	1	4	2	6	0	4			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr1:248551359C>T	ENST00000355728.2	+	1	450	c.450C>T	c.(448-450)ttC>ttT	p.F150F		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F150F(1)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCTCTTGGTTCGGTGGGGCTT	0.557													7	79					0	0	0.248553	0	0	T	248551359	C	T	248551359	2	4	26	1	0	0	0	0	0	0	0	1	11077	883	31	1		1	OR2T6	1	248551359	Silent	SNP	C	TCGA-CH-5772-01A-11D-1576-08	114339	248551359	699262	9	1449											
MSGN1	343930	broad.mit.edu	37	chr2	17998361	17998361	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagagcccagagcccagagCgcgtgagctccatccgggga	10	3	15	13	3	0	4	0	1	0	3	2	6	2	5	4	2	4	1	4	2	0	0			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr2:17998361C>A	ENST00000281047.3	+	1	599	c.576C>A	c.(574-576)agC>agA	p.S192R		NM_001105569.1	NP_001099039.1	A6NI15	MSGN1_HUMAN	mesogenin 1	192					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.S192R(1)		NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GAGCCCAGAGCGCGTGAGCTC	0.547													6	66					0.0215528	0.0223225	0.217242	1	0	A	17998361	C	A	17998361	3	1	26	1	0	0	0	0	1	0	0	0	9918	767	27	4	578	4	MSGN1	2	17998361	Missense_Mutation	SNP	C	TCGA-CH-5772-01A-11D-1576-08		17998361	225201012	10	1450											
C2orf71	388939	broad.mit.edu	37	chr2	29296170	29296170	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctcagagccctcaggaggcGttcatccacattcctttttg	7	12	8	14	1	3	1	3	0	0	1	5	2	5	2	4	2	1	1	4	2	0	4			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr2:29296170G>A	ENST00000331664.5	-	1	957	c.958C>T	c.(958-960)Cgc>Tgc	p.R320C		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	320			R -> C.		response to stimulus|visual perception	photoreceptor outer segment		p.R320C(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CTCAGGAGGCGTTCATCCACA	0.597													38	246					0	0	0.804634	0	0	A	29296170	G	A	29296170	3	1	26	1	0	0	0	0	1	0	0	0	2205	1145	40	1	2916	1	C2orf71	2	29296170	Missense_Mutation	SNP	G	TCGA-CH-5772-01A-11D-1576-08	11297809	29296170	213903203	11	1451											
ZNF638	27332	broad.mit.edu	37	chr2	71582900	71582900	+	Frame_Shift_Del	DEL	T	T	-																															atattgagagctgtcgacagTtacgtcaacagtaagaatat																										TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr2:71582900delT	ENST00000409544.1	+	3	1999	c.1369delT	c.(1369-1371)tafs	p.L457fs	ZNF638_ENST00000355812.3_Frame_Shift_Del_p.L457fs|ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000377802.2_Frame_Shift_Del_p.L457fs|ZNF638_ENST00000264447.4_Frame_Shift_Del_p.L457fs	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	457					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						CTGTCGACAGTTACGTCAACA	0.289													7	74	---	---	---	---						-	71582900	T	-	71582900	7	5	26	1	0	1	0	1	0	0	0	0	18112	1722	60	0	1375	0	ZNF638	2	71582900	Frame_Shift_Del	DEL	T	TCGA-CH-5772-01A-11D-1576-08	42286730	71582900	171616473	12	1452											
LRRTM1	347730	broad.mit.edu	37	chr2	80530234	80530234	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgttcctccgcaggcagagCgagtgcagggagatgaggcg	8	7	17	9	3	0	3	0	1	0	2	2	5	2	3	2	3	2	4	2	3	0	2			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr2:80530234C>A	ENST00000295057.3	-	2	1367	c.711G>T	c.(709-711)tcG>tcT	p.S237S	CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000361291.4_Intron|LRRTM1_ENST00000409148.1_Silent_p.S237S|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000466387.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	237						axon|endoplasmic reticulum membrane|growth cone|integral to membrane		p.S237S(2)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GCAGGCAGAGCGAGTGCAGGG	0.577										HNSCC(69;0.2)			4	158					0.00024832	0.000269207	0.150653	1	0	A	80530234	C	A	80530234	2	1	26	1	0	0	0	0	0	0	0	1	9084	755	27	4		4	LRRTM1	2	80530234	Silent	SNP	C	TCGA-CH-5772-01A-11D-1576-08	8947334	80530234	162669139	13	1453											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								7	143					0	0	0.27861	0	0	T	209113112	C	T	209113112	3	4	26	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-CH-5772-01A-11D-1576-08	128582878	209113112	34086261	14	1454											
MYL1	4632	broad.mit.edu	37	chr2	211179711	211179711	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgcaggtgccggtgccgggGctggggcagccgcagccgca	4	4	20	13	4	0	0	0	0	0	0	0	0	0	0	4	6	5	5	4	6	0	0			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr2:211179711G>A	ENST00000352451.3	-	1	203	c.56C>T	c.(55-57)gCc>gTc	p.A19V		NM_079420.2	NP_524144.1	P05976	MYL1_HUMAN	myosin, light chain 1, alkali; skeletal, fast	19					muscle filament sliding|muscle organ development	cytosol|muscle myosin complex|sarcomere	calcium ion binding|structural constituent of muscle	p.A19V(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		cggtgccggggctggggcAGC	0.502													8	91					0	0	0.38729	0	0	A	211179711	G	A	211179711	3	1	26	1	0	0	0	0	1	0	0	0	10091	1203	42	2	588	2	MYL1	2	211179711	Missense_Mutation	SNP	G	TCGA-CH-5772-01A-11D-1576-08	2066599	211179711	32019662	15	1455											
ABCA12	26154	broad.mit.edu	37	chr2	215890474	215890474	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagaaaagattttttaaatcGtattgtggactgcaggagtc	14	13	10	4	1	0	2	0	0	0	2	2	4	0	4	0	2	1	2	0	2	6	5			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr2:215890474G>A	ENST00000272895.7	-	11	1429	c.1210C>T	c.(1210-1212)Cga>Tga	p.R404*	ABCA12_ENST00000389661.4_Nonsense_Mutation_p.R86*|AC072062.3_ENST00000437897.3_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	404					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	p.R404*(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTTTTAAATCGTATTGTGGAC	0.348													14	131					0	0	0.435327	0	0	A	215890474	G	A	215890474	4	1	26	1	0	0	0	0	0	1	0	0	30	1153	40	1	6749	1	ABCA12	2	215890474	Nonsense_Mutation	SNP	G	TCGA-CH-5772-01A-11D-1576-08	4710763	215890474	27308899	16	1456											
ARPP21	10777	broad.mit.edu	37	chr3	35785388	35785388	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcaaccacgcaacagtacCggcccatggccccggttcag	9	5	9	18	3	2	0	2	0	0	0	2	0	2	0	6	3	3	3	6	3	3	2			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr3:35785388C>T	ENST00000187397.4	+	18	2419	c.1963C>T	c.(1963-1965)Cgg>Tgg	p.R655W	ARPP21_ENST00000444190.1_Missense_Mutation_p.R636W|ARPP21_ENST00000417925.1_Missense_Mutation_p.R656W|ARPP21_ENST00000337271.5_Missense_Mutation_p.R636W|ARPP21_ENST00000458225.1_Missense_Mutation_p.R656W	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	655	Gln-rich.					cytoplasm	nucleic acid binding	p.R655W(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GCAACAGTACCGGCCCATGGC	0.493													5	193					0	0	0.184627	0	0	T	35785388	C	T	35785388	3	4	26	1	0	0	0	0	1	0	0	0	977	643	23	1	2038	1	ARPP21	3	35785388	Missense_Mutation	SNP	C	TCGA-CH-5772-01A-11D-1576-08		35785388	162237042	17	1457											
HTT	3064	broad.mit.edu	37	chr4	3148562	3148562	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcagatgagtctaggaagaGctgtaccgttgggatggcca	10	9	14	8	1	2	3	1	1	1	2	2	5	2	5	2	3	2	3	2	3	3	3			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr4:3148562G>A	ENST00000355072.5	+	25	3327	c.3182G>A	c.(3181-3183)aGc>aAc	p.S1061N		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	1061					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	p.S1061N(1)		breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TCTAGGAAGAGCTGTACCGTT	0.468													14	637					0	0	0.435327	0	0	A	3148562	G	A	3148562	3	1	26	1	0	0	0	0	1	0	0	0	7501	971	34	2	3280	2	HTT	4	3148562	Missense_Mutation	SNP	G	TCGA-CH-5772-01A-11D-1576-08		3148562	188005714	18	1458											
KLHL5	51088	broad.mit.edu	37	chr4	39064620	39064620	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtggatgatggcactagTgaagaagaaaatgaatctga	17	8	13	3	0	1	6	0	4	1	2	1	8	1	7	0	2	0	1	0	2	7	1			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr4:39064620T>G	ENST00000261425.3	+	2	500	c.348T>G	c.(346-348)agT>agG	p.S116R	KLHL5_ENST00000504108.1_Missense_Mutation_p.S162R|KLHL5_ENST00000381930.3_Missense_Mutation_p.S162R|KLHL5_ENST00000508137.2_Intron|KLHL5_ENST00000261426.5_Missense_Mutation_p.S162R|KLHL5_ENST00000359687.2_Missense_Mutation_p.S162R	NM_001007075.2	NP_001007076.1	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	162						cytoplasm|cytoskeleton	actin binding	p.S162R(1)		endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						ATGGCACTAGTGAAGAAGAAA	0.418													6	168					0	0	0.217242	0	0	G	39064620	T	G	39064620	3	3	26	1	0	0	0	0	1	0	0	0	8435	1693	59	5	488	5	KLHL5	4	39064620	Missense_Mutation	SNP	T	TCGA-CH-5772-01A-11D-1576-08	35916058	39064620	152089656	19	1459											
GABRG1	2565	broad.mit.edu	37	chr4	46099328	46099328	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agacccaggttttgttcaccGttaaatcctcatcatcttca	10	14	5	12	1	5	1	4	0	1	1	6	1	6	1	3	1	0	3	3	1	2	5			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr4:46099328G>A	ENST00000295452.4	-	2	310	c.143C>T	c.(142-144)aCg>aTg	p.T48M		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	48					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.T48M(4)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TTTGTTCACCGTTAAATCCTC	0.343													14	291					0	0	0.457914	0	0	A	46099328	G	A	46099328	3	1	26	1	0	0	0	0	1	0	0	0	6206	1145	40	1	1286	1	GABRG1	4	46099328	Missense_Mutation	SNP	G	TCGA-CH-5772-01A-11D-1576-08	7034708	46099328	145054948	20	1460											
UGT2B10	7365	broad.mit.edu	37	chr4	69693267	69693267	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtaattaatgatccttcGtgagtagaacaatatttttc	14	15	6	6	1	0	3	0	2	0	1	3	3	1	3	1	0	1	2	1	0	6	7			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr4:69693267G>A	ENST00000265403.7	+	5	1334		c.e5+1		UGT2B10_ENST00000458688.2_Splice_Site	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10						lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.?(4)		endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						ATGATCCTTCGTGAGTAGAAC	0.383													12	210					0	0	0.435327	0	0	A	69693267	G	A	69693267	5	1	26	1	0	0	0	0	0	0	1	0	17016	1159	40	1	1326	1	UGT2B10	4	69693267	Splice_Site	SNP	G	TCGA-CH-5772-01A-11D-1576-08	23593939	69693267	121461009	21	1461											
LYSMD3	116068	broad.mit.edu	37	chr5	89815106	89815106	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agctgagtcactgtaagcaaGagaatcattagctggcaaaa	16	8	10	7	0	2	2	2	1	0	1	2	3	2	2	0	1	3	5	0	1	6	2			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr5:89815106G>C	ENST00000315948.6	-	3	595	c.451C>G	c.(451-453)Ctt>Gtt	p.L151V	LYSMD3_ENST00000509384.1_3'UTR|LYSMD3_ENST00000500869.2_Intron	NM_198273.1	NP_938014.1	Q7Z3D4	LYSM3_HUMAN	LysM, putative peptidoglycan-binding, domain containing 3	151					cell wall macromolecule catabolic process	integral to membrane		p.L151V(1)		breast(2)|large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	7		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)		CTGTAAGCAAGAGAATCATTA	0.393													4	197					0	0	0.150653	0	0	C	89815106	G	C	89815106	3	2	26	1	0	0	0	0	1	0	0	0	9172	942	33	4	473	4	LYSMD3	5	89815106	Missense_Mutation	SNP	G	TCGA-CH-5772-01A-11D-1576-08		89815106	91100154	22	1462											
ZCCHC10	54819	broad.mit.edu	37	chr5	132334285	132334287	+	In_Frame_Del	DEL	TTC	TTC	-																															tggagcaactctatttctttTtcttcttctttggtggttca																										TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr5:132334285_132334287delTTC	ENST00000324170.3	-	4	567_569	c.501_503delGAA	c.(499-504)aaa>aa	p.KK169del	ZCCHC10_ENST00000513541.1_3'UTR|ZCCHC10_ENST00000513848.1_In_Frame_Del_p.KK155del|ZCCHC10_ENST00000509008.1_3'UTR|ZCCHC10_ENST00000508080.1_5'UTR|ZCCHC10_ENST00000509437.1_In_Frame_Del_p.KK191del|ZCCHC10_ENST00000355372.2_In_Frame_Del_p.KK185del	NM_017665.1	NP_060135.1	Q8TBK6	ZCH10_HUMAN	zinc finger, CCHC domain containing 10	191	Ser-rich.						nucleic acid binding|zinc ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTATTTCTTTTTCTTCTTCTTTG	0.419													7	109	---	---	---	---						-	132334287	TTC	-	132334285	7	5	26	1	0	1	0	1	0	0	0	0	17638	1841	64	0	13	0	ZCCHC10	5	132334285	In_Frame_Del	DEL	TTC	TCGA-CH-5772-01A-11D-1576-08	42519179	132334285	48580975	23	1463											
PCDHA10	0	broad.mit.edu	37	chr5	140237082	140237082	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgcgtgggacgcggacgcGcaggagaacgccctggtgtc	6	6	17	12	6	1	1	0	0	1	1	2	4	1	3	1	4	2	1	1	4	1	0			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr5:140237082G>A	ENST00000307360.5	+	1	1449	c.1449G>A	c.(1447-1449)gcG>gcA	p.A483A	PCDHA10_ENST00000506939.2_Silent_p.A483A|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1												p.A483A(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCGGACGCGCAGGAGAACG	0.662													6	210					0	0	0.248553	0	0	A	140237082	G	A	140237082	2	1	26	1	0	0	0	0	0	0	0	1	11567	1074	38	1		1	PCDHA10	5	140237082	Silent	SNP	G	TCGA-CH-5772-01A-11D-1576-08	7902797	140237082	40678178	24	1464											
PCDHGA2	0	broad.mit.edu	37	chr5	140720422	140720422	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacacgggcgaggtgcgcacGgcgcgagccctgctggacag	7	3	17	14	6	0	0	0	0	0	0	0	3	0	1	1	4	3	2	1	4	0	0			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr5:140720422G>A	ENST00000394576.2	+	1	1884	c.1884G>A	c.(1882-1884)acG>acA	p.T628T	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1												p.T628T(2)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGCGCACGGCGCGAGCCC	0.682													14	154					0	0	0.500413	0	0	A	140720422	G	A	140720422	2	1	26	1	0	0	0	0	0	0	0	1	11601	1103	39	1		1	PCDHGA2	5	140720422	Silent	SNP	G	TCGA-CH-5772-01A-11D-1576-08	483340	140720422	40194838	25	1465											
PCDHGA10	0	broad.mit.edu	37	chr5	140794395	140794395	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccactcagcagcaacgtgtcGttgagcctgtttgtgctgga	7	11	12	11	2	1	1	1	1	0	0	2	2	1	2	2	1	5	5	2	1	1	2			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr5:140794395G>A	ENST00000398610.2	+	1	1653	c.1653G>A	c.(1651-1653)tcG>tcA	p.S551S	PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1												p.S551S(1)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAACGTGTCGTTGAGCCTGT	0.597													10	329					0	0	0.38729	0	0	A	140794395	G	A	140794395	2	1	26	1	0	0	0	0	0	0	0	1	11598	1132	40	1		1	PCDHGA10	5	140794395	Silent	SNP	G	TCGA-CH-5772-01A-11D-1576-08	73973	140794395	40120865	26	1466											
FAT2	2196	broad.mit.edu	37	chr5	150928993	150928993	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgagtgaagcggggtgggTggaggtttccatcctccaca	7	9	16	9	1	0	2	0	2	0	0	3	3	3	3	3	5	1	2	3	5	1	1			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr5:150928993T>C	ENST00000261800.5	-	8	4664	c.4652A>G	c.(4651-4653)cAc>cGc	p.H1551R		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1551	Cadherin 13.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	p.H1551R(1)		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)			GCGGGGTGGGTGGAGGTTTCC	0.567													7	94					0	0	0.248553	0	0	C	150928993	T	C	150928993	3	2	26	1	0	0	0	0	1	0	0	0	5723	1696	59	3	8461	3	FAT2	5	150928993	Missense_Mutation	SNP	T	TCGA-CH-5772-01A-11D-1576-08	10134598	150928993	29986267	27	1467											
FOXF2	2295	broad.mit.edu	37	chr6	1390758	1390758	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagggctcgttccgccgccgGccgcgcggcttcaggcggaa	4	5	17	15	8	1	0	1	0	0	0	3	2	2	1	4	5	0	3	4	5	1	2			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr6:1390758G>A	ENST00000259806.1	+	1	690	c.576G>A	c.(574-576)cgG>cgA	p.R192R		NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN	forkhead box F2	192					epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	p.R192R(1)		large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		TCCGCCGCCGGCCGCGCGGCT	0.706													4	135					0	0	0.150653	0	0	A	1390758	G	A	1390758	2	1	26	1	0	0	0	0	0	0	0	1	6040	1190	42	2		2	FOXF2	6	1390758	Silent	SNP	G	TCGA-CH-5772-01A-11D-1576-08		1390758	169724309	28	1468											
EYS	346007	broad.mit.edu	37	chr6	66205045	66205045	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcagaagaaattacaaggaTatctcctaattgaatttgca	16	13	6	6	0	2	3	1	1	1	2	3	4	2	4	1	1	2	1	1	1	7	6			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr6:66205045T>C	ENST00000503581.1	-	4	796	c.259A>G	c.(259-261)Atc>Gtc	p.I87V	EYS_ENST00000370618.3_Missense_Mutation_p.I87V|EYS_ENST00000393380.2_Missense_Mutation_p.I87V|EYS_ENST00000370621.3_Missense_Mutation_p.I87V|EYS_ENST00000370616.2_Missense_Mutation_p.I87V|EYS_ENST00000342421.5_Missense_Mutation_p.I87V	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	87					response to stimulus|visual perception	extracellular region	calcium ion binding	p.I87V(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						ATTACAAGGATATCTCCTAAT	0.363													7	228					0	0	0.27861	0	0	C	66205045	T	C	66205045	3	2	26	1	0	0	0	0	1	0	0	0	5360	1406	49	3	9297	3	EYS	6	66205045	Missense_Mutation	SNP	T	TCGA-CH-5772-01A-11D-1576-08	64814287	66205045	104910022	29	1469											
MAD1L1	8379	broad.mit.edu	37	chr7	1855777	1855777	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagggatgctgtcctggcGccgcaggtgcacctcgatga	6	7	16	12	3	0	1	0	1	0	0	2	3	1	2	3	4	2	4	3	4	0	0			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr7:1855777G>A	ENST00000406869.1	-	19	2643	c.2086C>T	c.(2086-2088)Cgc>Tgc	p.R696C	MAD1L1_ENST00000402746.1_Missense_Mutation_p.R604C|MAD1L1_ENST00000265854.7_Missense_Mutation_p.R696C|MAD1L1_ENST00000399654.2_Missense_Mutation_p.R696C			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	696					cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding	p.R696C(2)		central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		CTGTCCTGGCGCCGCAGGTGC	0.672													7	105					0	0	0.248553	0	0	A	1855777	G	A	1855777	3	1	26	1	0	0	0	0	1	0	0	0	9193	1087	38	1	74	1	MAD1L1	7	1855777	Missense_Mutation	SNP	G	TCGA-CH-5772-01A-11D-1576-08		1855777	157282886	30	1470											
MEOX2	4223	broad.mit.edu	37	chr7	15725595	15725595	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggccgtagtcccccggcgCgcacgcggccccagtcgggg	3	3	17	18	8	0	0	0	0	0	0	2	0	1	0	5	5	0	2	5	5	1	1			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr7:15725595C>T	ENST00000262041.5	-	1	842	c.433G>A	c.(433-435)Gcg>Acg	p.A145T		NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	145					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A145T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		TCCCCCGGCGCGCACGCGGCC	0.711													5	219					0	0	0.217242	0	0	T	15725595	C	T	15725595	3	4	26	1	0	0	0	0	1	0	0	0	9524	768	27	1	493	1	MEOX2	7	15725595	Missense_Mutation	SNP	C	TCGA-CH-5772-01A-11D-1576-08	13869818	15725595	143413068	31	1471											
HECW1	23072	broad.mit.edu	37	chr7	43484982	43484982	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggtcttctcctcgcaagaCgacgaggaggaggagaacag	12	5	14	10	4	2	2	0	0	2	2	4	7	2	4	1	4	1	1	1	4	2	1			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr7:43484982C>T	ENST00000395891.1	+	11	2816	c.2211C>T	c.(2209-2211)gaC>gaT	p.D737D	HECW1_ENST00000453890.1_Silent_p.D737D	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	737					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.D737D(2)|p.D716D(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CCTCGCAAGACGACGAGGAGG	0.652													76	122					0	0	0.870114	0	0	T	43484982	C	T	43484982	2	4	26	1	0	0	0	0	0	0	0	1	7083	535	19	1		1	HECW1	7	43484982	Silent	SNP	C	TCGA-CH-5772-01A-11D-1576-08	27759387	43484982	115653681	32	1472											
KIAA1549	57670	broad.mit.edu	37	chr7	138603105	138603105	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggtgaaggcacagtgcaggCcgcacaccaagtgtatggtc	11	6	14	10	1	0	1	0	1	0	0	1	1	0	1	2	4	1	4	2	4	3	1			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr7:138603105C>G	ENST00000440172.1	-	2	1315	c.1267G>C	c.(1267-1269)Gcc>Ccc	p.A423P	KIAA1549_ENST00000422774.1_Missense_Mutation_p.A423P|KIAA1549_ENST00000242365.4_Missense_Mutation_p.A373P	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	423						integral to membrane		p.A423P(1)|p.A373P(1)	KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						ACAGTGCAGGCCGCACACCAA	0.562			O	BRAF	pilocytic astrocytoma								57	80					0	0	0.870114	0	0	G	138603105	C	G	138603105	3	3	26	1	0	0	0	0	1	0	0	0	8286	739	26	4	4661	4	KIAA1549	7	138603105	Missense_Mutation	SNP	C	TCGA-CH-5772-01A-11D-1576-08	95118123	138603105	20535558	33	1473											
OR2A5	393046	broad.mit.edu	37	chr7	143747902	143747902	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgcaatattctgtcatcatGagatggggagtgtgcacagt	10	12	12	7	0	3	1	2	1	1	1	3	3	3	2	0	2	2	2	0	2	2	2			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr7:143747902G>A	ENST00000408906.2	+	1	442	c.408G>A	c.(406-408)atG>atA	p.M136I		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M136I(1)		cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					CTGTCATCATGAGATGGGGAG	0.512													7	441					0	0	0.27861	0	0	A	143747902	G	A	143747902	3	1	26	1	0	0	0	0	1	0	0	0	11029	1290	45	2	410	2	OR2A5	7	143747902	Missense_Mutation	SNP	G	TCGA-CH-5772-01A-11D-1576-08	5144797	143747902	15390761	34	1474											
KCNB2	9312	broad.mit.edu	37	chr8	73480433	73480433	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacgaagaactgaggcgagAggcagagactatgcgagagc	15	3	16	7	3	0	5	0	1	0	4	0	10	0	5	0	2	4	1	0	2	4	1			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr8:73480433A>T	ENST00000523207.1	+	2	1052	c.464A>T	c.(463-465)gAg>gTg	p.E155V		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	155					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.E155V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CTGAGGCGAGAGGCAGAGACT	0.453													9	185					0	0	0.307466	0	0	T	73480433	A	T	73480433	3	4	26	1	0	0	0	0	1	0	0	0	8057	304	11	5	466	5	KCNB2	8	73480433	Missense_Mutation	SNP	A	TCGA-CH-5772-01A-11D-1576-08		73480433	72883589	35	1475											
GDF6	392255	broad.mit.edu	37	chr8	97156855	97156855	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtagaccacattattgcccGcgtcgatgtatagaatgctg	10	12	10	9	3	0	2	0	0	0	2	1	3	0	2	2	0	2	3	2	0	5	5	rs140782427		TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr8:97156855G>A	ENST00000287020.5	-	2	1403	c.1304C>T	c.(1303-1305)gCg>gTg	p.A435V		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	435					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	p.A435V(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					ATTATTGCCCGCGTCGATGTA	0.602													7	56					0	0	0.248553	0	0	A	97156855	G	A	97156855	3	1	26	1	0	0	0	0	1	0	0	0	6359	1087	38	1	67	1	GDF6	8	97156855	Missense_Mutation	SNP	G	TCGA-CH-5772-01A-11D-1576-08	23676422	97156855	49207167	36	1476											
IFNA10	3446	broad.mit.edu	37	chr9	21206631	21206631	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acaagggctgtatttcctctCtattagataaagagtgattc	12	14	8	7	0	1	3	0	1	1	2	4	3	2	3	1	1	0	2	1	1	6	6			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr9:21206631C>G	ENST00000357374.2	-	1	511	c.466G>C	c.(466-468)Gag>Cag	p.E156Q		NM_002171.1	NP_002162.1	P01566	IFN10_HUMAN	interferon, alpha 10	156					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	p.E156Q(1)		endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16				Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)		TATTTCCTCTCTATTAGATAA	0.448													8	723					0	0	0.27861	0	0	G	21206631	C	G	21206631	3	3	26	1	0	0	0	0	1	0	0	0	7576	922	32	4	107	4	IFNA10	9	21206631	Missense_Mutation	SNP	C	TCGA-CH-5772-01A-11D-1576-08		21206631	120006800	37	1477											
KIAA1045	23349	broad.mit.edu	37	chr9	34971518	34971518	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccaggaagagagtagtgccGgccgcgcagcctgggagcgg	8	4	18	11	4	0	1	0	0	0	1	1	4	1	3	4	4	3	2	4	4	2	1			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr9:34971518G>A	ENST00000242315.3	+	2	305	c.223G>A	c.(223-225)Ggc>Agc	p.G75S	KIAA1045_ENST00000476115.2_Intron|KIAA1045_ENST00000544237.1_Missense_Mutation_p.G75S	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	75							calcium ion binding	p.G75S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			GAGTAGTGCCGGCCGCGCAGC	0.652													67	103					0	0	0.870114	0	0	A	34971518	G	A	34971518	3	1	26	1	0	0	0	0	1	0	0	0	8249	1116	39	1	225	1	KIAA1045	9	34971518	Missense_Mutation	SNP	G	TCGA-CH-5772-01A-11D-1576-08	13764887	34971518	106241913	38	1478											
AK1	203	broad.mit.edu	37	chr9	130630299	130630299	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgttgctactttagggcGtccaggtgggtgcagacctg	6	10	15	10	2	0	1	0	0	0	1	1	1	1	1	2	3	4	3	2	3	2	4			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr9:130630299G>A	ENST00000373176.1	-	7	725	c.573C>T	c.(571-573)gaC>gaT	p.D191D	RP11-203J24.9_ENST00000476274.2_RNA|AK1_ENST00000373156.1_Silent_p.D191D|AK1_ENST00000223836.10_Silent_p.D207D	NM_000476.2	NP_000467.1	P00568	KAD1_HUMAN	adenylate kinase 1	191					ATP metabolic process|nucleobase, nucleoside and nucleotide interconversion	cytosol	adenylate kinase activity|ATP binding|protein binding	p.D191D(2)		endometrium(1)|prostate(1)	2						ACTTTAGGGCGTCCAGGTGGG	0.667													10	102					0	0	0.38729	0	0	A	130630299	G	A	130630299	2	1	26	1	0	0	0	0	0	0	0	1	436	1136	40	1		1	AK1	9	130630299	Silent	SNP	G	TCGA-CH-5772-01A-11D-1576-08	95658781	130630299	10583132	39	1479											
GFI1B	8328	broad.mit.edu	37	chr9	135866396	135866396	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaggcttccagcgcaaggtgGacctgcggcggcaccgcgag	8	4	16	13	5	0	0	0	0	0	0	1	2	1	1	3	5	2	3	3	5	2	1			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr9:135866396G>A	ENST00000339463.3	+	11	1771	c.952G>A	c.(952-954)Gac>Aac	p.D318N	GFI1B_ENST00000534944.1_Missense_Mutation_p.D272N|GFI1B_ENST00000372124.1_Missense_Mutation_p.D272N|GFI1B_ENST00000450530.1_Missense_Mutation_p.D318N|GFI1B_ENST00000372122.1_Missense_Mutation_p.D318N|GFI1B_ENST00000372123.1_Missense_Mutation_p.D272N			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	318	Interaction with ARIH2.|Mediates interaction with GATA1.				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding	p.D318N(2)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		GCGCAAGGTGGACCTGCGGCG	0.652													35	128					0	0	0.796494	0	0	A	135866396	G	A	135866396	3	1	26	1	0	0	0	0	1	0	0	0	6382	1174	41	2	974	2	GFI1B	9	135866396	Missense_Mutation	SNP	G	TCGA-CH-5772-01A-11D-1576-08	5236097	135866396	5347035	40	1480											
CHAT	1103	broad.mit.edu	37	chr10	50835688	50835688	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgtcattaatttccgccGtctcagtgagggggatctgt	6	15	12	8	2	3	1	2	1	2	0	5	2	4	2	2	2	0	1	2	2	1	3			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr10:50835688G>A	ENST00000395562.2	+	8	1191	c.722G>A	c.(721-723)cGt>cAt	p.R241H	CHAT_ENST00000337653.2_Missense_Mutation_p.R323H|CHAT_ENST00000395559.2_Missense_Mutation_p.R205H|CHAT_ENST00000339797.1_Missense_Mutation_p.R205H|CHAT_ENST00000351556.3_Missense_Mutation_p.R205H|CHAT_ENST00000455728.2_Missense_Mutation_p.R205H	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	323					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	p.R323H(2)		central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	AATTTCCGCCGTCTCAGTGAG	0.512													10	380					0	0	0.38729	0	0	A	50835688	G	A	50835688	3	1	26	1	0	0	0	0	1	0	0	0	3335	1145	40	1	1038	1	CHAT	10	50835688	Missense_Mutation	SNP	G	TCGA-CH-5772-01A-11D-1576-08		50835688	84699059	41	1481											
SORBS1	10580	broad.mit.edu	37	chr10	97192294	97192294	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacgaggcccggagagtcAccgctcccttcccagtgcag	9	5	12	15	3	1	2	1	0	0	2	3	4	3	2	4	2	1	2	4	2	1	1			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr10:97192294A>T	ENST00000371247.2	-	6	401	c.212T>A	c.(211-213)gTg>gAg	p.V71E	SORBS1_ENST00000393949.1_Missense_Mutation_p.V71E|SORBS1_ENST00000347291.4_Missense_Mutation_p.V71E|SORBS1_ENST00000354106.3_Missense_Mutation_p.V71E|SORBS1_ENST00000371246.2_Missense_Mutation_p.V71E|SORBS1_ENST00000353505.5_Missense_Mutation_p.V71E|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000371245.3_Missense_Mutation_p.V71E|SORBS1_ENST00000371241.1_Missense_Mutation_p.V39E|SORBS1_ENST00000371239.1_Missense_Mutation_p.V39E|SORBS1_ENST00000371227.4_Missense_Mutation_p.V71E|SORBS1_ENST00000371249.2_Missense_Mutation_p.V39E|SORBS1_ENST00000306402.6_Missense_Mutation_p.V71E|SORBS1_ENST00000361941.3_Missense_Mutation_p.V71E|SORBS1_ENST00000277982.5_Missense_Mutation_p.V71E|SORBS1_ENST00000607232.1_Missense_Mutation_p.V39E			Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1	71					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity	p.V71E(2)		NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		CCGGAGAGTCACCGCTCCCTT	0.517													4	128					0	0	0.150653	0	0	T	97192294	A	T	97192294	3	4	26	1	0	0	0	0	1	0	0	0	14981	159	6	5	3975	5	SORBS1	10	97192294	Missense_Mutation	SNP	A	TCGA-CH-5772-01A-11D-1576-08	46356606	97192294	38342453	42	1482											
COL17A1	1308	broad.mit.edu	37	chr10	105798243	105798243	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggaggcccagggggcccaggGggccctggcgggcctgacac	5	2	20	14	1	0	1	0	1	0	0	0	2	0	2	4	8	0	0	4	8	0	0			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr10:105798243G>A	ENST00000353479.5	-	45	3281	c.2991C>T	c.(2989-2991)ccC>ccT	p.P997P	COL17A1_ENST00000369733.3_Silent_p.P952P	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	997	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	p.P997P(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GGGGCCCAGGGGGCCCTGGCG	0.602													15	340					0	0	0.457914	0	0	A	105798243	G	A	105798243	2	1	26	1	0	0	0	0	0	0	0	1	3697	1219	43	2		2	COL17A1	10	105798243	Silent	SNP	G	TCGA-CH-5772-01A-11D-1576-08	8605949	105798243	29736504	43	1483											
SORCS3	22986	broad.mit.edu	37	chr10	106959827	106959827	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actacaaatctatcttcagcCggcattgcaccaaggaggac	13	8	8	12	1	3	0	1	0	2	0	3	2	3	2	2	3	3	2	2	3	4	4			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr10:106959827C>T	ENST00000369701.3	+	15	2307	c.2080C>T	c.(2080-2082)Cgg>Tgg	p.R694W	SORCS3_ENST00000369699.4_5'UTR	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	694						integral to membrane	neuropeptide receptor activity	p.R694W(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TATCTTCAGCCGGCATTGCAC	0.532													7	214					0	0	0.248553	0	0	T	106959827	C	T	106959827	3	4	26	1	0	0	0	0	1	0	0	0	14986	643	23	1	2138	1	SORCS3	10	106959827	Missense_Mutation	SNP	C	TCGA-CH-5772-01A-11D-1576-08	1161584	106959827	28574920	44	1484											
TDRD1	56165	broad.mit.edu	37	chr10	115986961	115986961	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catacagtgtcagttgagaaAtgttctgagaatgggactgt	12	12	12	5	0	2	2	1	2	1	2	2	5	2	3	0	1	1	2	0	1	3	3			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr10:115986961A>C	ENST00000251864.2	+	23	3459	c.3306A>C	c.(3304-3306)aaA>aaC	p.K1102N	TDRD1_ENST00000369282.1_Intron|TDRD1_ENST00000369281.2_Missense_Mutation_p.K988N|TDRD1_ENST00000422662.1_Intron|TDRD1_ENST00000369280.1_Intron	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	1102					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding	p.K1102N(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		CAGTTGAGAAATGTTCTGAGA	0.343													72	130					0	0	0.870114	0	0	C	115986961	A	C	115986961	3	2	26	1	0	0	0	0	1	0	0	0	15789	98	4	5	3392	5	TDRD1	10	115986961	Missense_Mutation	SNP	A	TCGA-CH-5772-01A-11D-1576-08	9027134	115986961	19547786	45	1485											
OR5D18	219438	broad.mit.edu	37	chr11	55587401	55587401	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catttcatttttaggatgcgTagtacaattctttttcttct	8	21	5	7	1	4	0	1	0	3	0	4	1	4	1	0	1	2	2	0	1	4	10			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr11:55587401T>C	ENST00000333976.4	+	1	316	c.296T>C	c.(295-297)gTa>gCa	p.V99A		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V99A(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TTAGGATGCGTAGTACAATTC	0.428													9	502					0	0	0.335167	0	0	C	55587401	T	C	55587401	3	2	26	1	0	0	0	0	1	0	0	0	11204	1638	57	3	298	3	OR5D18	11	55587401	Missense_Mutation	SNP	T	TCGA-CH-5772-01A-11D-1576-08		55587401	79419115	46	1486											
OR4D6	219983	broad.mit.edu	37	chr11	59225135	59225135	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cactctggggaggggcggaaCaaggccctctccacgtgcac	8	5	14	14	2	2	0	0	0	2	0	3	2	2	2	2	6	2	1	2	6	2	0			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr11:59225135C>G	ENST00000300127.2	+	1	725	c.702C>G	c.(700-702)aaC>aaG	p.N234K		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N234K(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						AGGGGCGGAACAAGGCCCTCT	0.587													4	149					0	0	0.150653	0	0	G	59225135	C	G	59225135	3	3	26	1	0	0	0	0	1	0	0	0	11106	477	17	4	704	4	OR4D6	11	59225135	Missense_Mutation	SNP	C	TCGA-CH-5772-01A-11D-1576-08	3637734	59225135	75781381	47	1487											
TIGD3	220359	broad.mit.edu	37	chr11	65123520	65123520	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ccaagtacagcgggatcgacGaggctctgctctgctggtac	8	8	13	12	3	2	0	0	0	2	0	3	3	2	1	1	3	5	5	1	3	3	2			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr11:65123520G>C	ENST00000309880.5	+	2	448	c.241G>C	c.(241-243)Gag>Cag	p.E81Q		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	81	HTH CENPB-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	p.E81Q(1)		endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						CGGGATCGACGAGGCTCTGCT	0.627													9	172					0	0	0.307466	0	0	C	65123520	G	C	65123520	3	2	26	1	0	0	0	0	1	0	0	0	15957	1059	37	4	243	4	TIGD3	11	65123520	Missense_Mutation	SNP	G	TCGA-CH-5772-01A-11D-1576-08	5898385	65123520	69882996	48	1488											
SPTBN2	6712	broad.mit.edu	37	chr11	66469126	66469126	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggccttcagtaactgctcGgcaatgtcattcaccgcggt	7	12	10	12	3	3	0	3	0	0	0	4	0	3	0	2	3	2	3	2	3	2	4	rs144636685		TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr11:66469126G>A	ENST00000533211.1	-	16	3076	c.2745C>T	c.(2743-2745)gcC>gcT	p.A915A	SPTBN2_ENST00000529997.1_Silent_p.A915A|SPTBN2_ENST00000309996.2_Silent_p.A915A			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	915					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	p.A915A(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GTAACTGCTCGGCAATGTCAT	0.572													7	260					0	0	0.248553	0	0	A	66469126	G	A	66469126	2	1	26	1	0	0	0	0	0	0	0	1	15176	1103	39	1		1	SPTBN2	11	66469126	Silent	SNP	G	TCGA-CH-5772-01A-11D-1576-08	1345606	66469126	68537390	49	1489											
FAT3	120114	broad.mit.edu	37	chr11	92088335	92088335	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagacaaagggcggcctgtCtctctgtcatctgtttcctt	8	13	9	11	1	4	1	1	0	3	1	6	1	5	1	2	2	0	1	2	2	2	2			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr11:92088335C>A	ENST00000298047.6	+	1	3074	c.3057C>A	c.(3055-3057)gtC>gtA	p.V1019V	FAT3_ENST00000409404.2_Silent_p.V1019V|FAT3_ENST00000525166.1_Silent_p.V869V|FAT3_ENST00000541502.1_Silent_p.V1019V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1019	Cadherin 9.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.V1019V(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGCGGCCTGTCTCTCTGTCAT	0.463										TCGA Ovarian(4;0.039)			4	82					0.00909568	0.0095054	0.150653	1	0	A	92088335	C	A	92088335	2	1	26	1	0	0	0	0	0	0	0	1	5724	900	32	4		4	FAT3	11	92088335	Silent	SNP	C	TCGA-CH-5772-01A-11D-1576-08	25619209	92088335	42918181	50	1490											
CASP1	834	broad.mit.edu	37	chr11	104899864	104899864	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgttacctggtgtggaagaGcagaaagcgataaaatcctt	13	10	11	7	1	0	2	0	0	0	2	1	4	1	3	2	2	3	2	2	2	5	3			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr11:104899864G>C	ENST00000533400.1	-	7	1028	c.993C>G	c.(991-993)tgC>tgG	p.C331W	CASP1_ENST00000594519.1_Intron|CASP1_ENST00000598974.1_Missense_Mutation_p.C331W|CASP1_ENST00000593315.1_Missense_Mutation_p.C310W|CASP1_ENST00000534497.1_Intron|CASP1_ENST00000528974.1_Missense_Mutation_p.C292W|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000526568.1_Missense_Mutation_p.C238W|CASP1_ENST00000525825.1_Missense_Mutation_p.C310W|CASP1_ENST00000527979.1_Missense_Mutation_p.C294W|CASP1_ENST00000446369.1_Intron|CASP1_ENST00000436863.3_Missense_Mutation_p.C331W|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000393136.4_Missense_Mutation_p.C310W|CASP1_ENST00000353247.5_Intron	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	331					cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding	p.C331W(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	GTGTGGAAGAGCAGAAAGCGA	0.408													13	106					0	0	0.457914	0	0	C	104899864	G	C	104899864	3	2	26	1	0	0	0	0	1	0	0	0	2686	963	34	4	233	4	CASP1	11	104899864	Missense_Mutation	SNP	G	TCGA-CH-5772-01A-11D-1576-08	12811529	104899864	30106652	51	1491											
BACE1	23621	broad.mit.edu	37	chr11	117186309	117186309	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agccctgccccgacttgcccCtcaggttgtccaccatctcc	5	9	7	20	1	2	0	1	0	1	0	4	1	3	0	8	1	3	1	8	1	0	2			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr11:117186309C>G	ENST00000313005.6	-	1	663	c.203G>C	c.(202-204)aGg>aCg	p.R68T	BACE1_ENST00000514464.1_5'UTR|BACE1_ENST00000513780.1_Missense_Mutation_p.R68T|BACE1_ENST00000445823.2_Missense_Mutation_p.R68T|BACE1_ENST00000528053.1_Missense_Mutation_p.R68T|BACE1_ENST00000428381.2_Missense_Mutation_p.R68T	NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3	NP_036236.1|NP_620427.1|NP_620428.1|NP_620429.1	P56817	BACE1_HUMAN	beta-site APP-cleaving enzyme 1	68					beta-amyloid metabolic process|membrane protein ectodomain proteolysis	cell surface|cytoplasmic vesicle membrane|endoplasmic reticulum|endosome|integral to plasma membrane|trans-Golgi network	aspartic-type endopeptidase activity|beta-aspartyl-peptidase activity|protein binding	p.R68T(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)		CGACTTGCCCCTCAGGTTGTC	0.711													12	31					0	0	0.479597	0	0	G	117186309	C	G	117186309	3	3	26	1	0	0	0	0	1	0	0	0	1279	681	24	4	1338	4	BACE1	11	117186309	Missense_Mutation	SNP	C	TCGA-CH-5772-01A-11D-1576-08	12286445	117186309	17820207	52	1492											
ARHGAP32	9743	broad.mit.edu	37	chr11	128844094	128844094	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctctttccctggcaattCtacttcttcagcagccacct	7	14	4	16	0	4	0	1	0	3	0	6	0	6	0	4	1	3	2	4	1	2	5			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr11:128844094C>A	ENST00000310343.9	-	20	2955	c.2956G>T	c.(2956-2958)Gaa>Taa	p.E986*	ARHGAP32_ENST00000527272.1_Nonsense_Mutation_p.E637*|ARHGAP32_ENST00000524655.1_Nonsense_Mutation_p.E912*|ARHGAP32_ENST00000392657.3_Nonsense_Mutation_p.E637*	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	986					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	p.E637*(2)|p.E986*(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CCTGGCAATTCTACTTCTTCA	0.478													6	215					1.06961e-07	1.20461e-07	0.27861	1	0	A	128844094	C	A	128844094	4	1	26	1	0	0	0	0	0	1	0	0	878	922	32	4	3319	4	ARHGAP32	11	128844094	Nonsense_Mutation	SNP	C	TCGA-CH-5772-01A-11D-1576-08	11657785	128844094	6162422	53	1493											
SPATA19	219938	broad.mit.edu	37	chr11	133712384	133712384	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttccaaacagcttaccttcGtctcacctgctctattcgat	8	14	5	14	2	2	0	1	0	2	0	6	1	3	0	3	0	4	3	3	0	3	5			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr11:133712384G>A	ENST00000299140.3	-	5	487	c.433C>T	c.(433-435)Cga>Tga	p.R145*	SPATA19_ENST00000532889.1_Nonsense_Mutation_p.R145*	NM_174927.1	NP_777587.1	Q7Z5L4	SPT19_HUMAN	spermatogenesis associated 19	145					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrial outer membrane		p.R145*(1)		cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1)	11	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)		GCTTACCTTCGTCTCACCTGC	0.527													8	198					0	0	0.307466	0	0	A	133712384	G	A	133712384	4	1	26	1	0	0	0	0	0	1	0	0	15060	1153	40	1	78	1	SPATA19	11	133712384	Nonsense_Mutation	SNP	G	TCGA-CH-5772-01A-11D-1576-08	4868290	133712384	1294132	54	1494											
FKBP4	2288	broad.mit.edu	37	chr12	2910444	2910444	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctggctgtgtgccagcaGcggatccgaaggcagcttgc	7	7	15	12	2	0	0	0	0	0	0	1	2	1	1	2	3	6	5	2	3	1	1			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr12:2910444G>T	ENST00000001008.4	+	9	1381	c.1194G>T	c.(1192-1194)caG>caT	p.Q398H	RP4-816N1.6_ENST00000547834.1_RNA|RP4-816N1.7_ENST00000547042.1_RNA	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	FK506 binding protein 4, 59kDa	398	Interaction with tubulin (By similarity).				negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding	axonal growth cone|cytosol|membrane|microtubule|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging	p.Q398H(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)		Dimethyl sulfoxide(DB01093)	TGTGCCAGCAGCGGATCCGAA	0.567													37	195					4.92203e-23	5.70955e-23	0.819951	1	0	T	2910444	G	T	2910444	3	4	26	1	0	0	0	0	1	0	0	0	5943	962	34	4	1228	4	FKBP4	12	2910444	Missense_Mutation	SNP	G	TCGA-CH-5772-01A-11D-1576-08		2910444	130941451	55	1495											
GRIN2B	2904	broad.mit.edu	37	chr12	13717457	13717457	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacaggttagccatgttcttGgccgtgcgcagcaggcgcag	7	8	15	11	3	1	0	0	0	1	0	1	1	1	0	2	3	3	5	2	3	1	3			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr12:13717457G>T	ENST00000279593.3	-	13	2924	c.2715C>A	c.(2713-2715)gcC>gcA	p.A905A		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	905					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.A905A(2)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCATGTTCTTGGCCGTGCGCA	0.592													17	326					1.33834e-09	1.52203e-09	0.557998	1	0	T	13717457	G	T	13717457	2	4	26	1	0	0	0	0	0	0	0	1	6821	1335	47	4		4	GRIN2B	12	13717457	Silent	SNP	G	TCGA-CH-5772-01A-11D-1576-08	10807013	13717457	120134438	56	1496											
AVPR1A	0	broad.mit.edu	37	chr12	63543828	63543828	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccccttttggaaggccacAcccgcttgctctgcaccctt	7	10	7	17	1	1	0	0	0	1	0	1	1	1	1	5	2	3	3	5	2	2	4			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr12:63543828A>G	ENST00000299178.2	-	1	894	c.789T>C	c.(787-789)ggT>ggC	p.G263G		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	263					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	p.G263G(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	GGAAGGCCACACCCGCTTGCT	0.587													11	273					0	0	0.361761	0	0	G	63543828	A	G	63543828	2	3	26	1	0	0	0	0	0	0	0	1	1229	146	6	3		3	AVPR1A	12	63543828	Silent	SNP	A	TCGA-CH-5772-01A-11D-1576-08	49826371	63543828	70308067	57	1497											
ATP7B	540	broad.mit.edu	37	chr13	52513267	52513267	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acccatgctctgcagcgtgtGcacagccagggcagcctcct	7	7	11	16	1	1	0	0	0	1	0	2	0	2	0	4	1	6	4	4	1	0	0			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr13:52513267G>C	ENST00000242839.4	-	17	3775	c.3619C>G	c.(3619-3621)Cac>Gac	p.H1207D	ATP7B_ENST00000400370.3_Missense_Mutation_p.H777D|ATP7B_ENST00000344297.5_Missense_Mutation_p.H1000D|ATP7B_ENST00000417240.2_Missense_Mutation_p.H418D|ATP7B_ENST00000418097.2_Missense_Mutation_p.H1142D|ATP7B_ENST00000400366.3_Missense_Mutation_p.H1096D|ATP7B_ENST00000448424.2_Missense_Mutation_p.H1129D	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1207			H -> R (in dbSNP:rs7334118).		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding	p.H1207D(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		TGCAGCGTGTGCACAGCCAGG	0.582									Wilson disease				4	97					0	0	0.184627	0	0	C	52513267	G	C	52513267	3	2	26	1	0	0	0	0	1	0	0	0	1189	1319	46	4	798	4	ATP7B	13	52513267	Missense_Mutation	SNP	G	TCGA-CH-5772-01A-11D-1576-08		52513267	62656611	58	1498											
NALCN	259232	broad.mit.edu	37	chr13	101944634	101944634	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atagaagtaggaacgccaacGgggaaagctgtcaattgctc	14	7	12	8	2	1	1	1	0	0	1	2	3	1	3	1	3	4	3	1	3	7	3			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr13:101944634G>A	ENST00000251127.6	-	8	964	c.883C>T	c.(883-885)Cgt>Tgt	p.R295C	NALCN_ENST00000376196.3_Missense_Mutation_p.R295C|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	295						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.R295C(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GAACGCCAACGGGGAAAGCTG	0.468													8	64					0	0	0.27861	0	0	A	101944634	G	A	101944634	3	1	26	1	0	0	0	0	1	0	0	0	10196	1116	39	1	4481	1	NALCN	13	101944634	Missense_Mutation	SNP	G	TCGA-CH-5772-01A-11D-1576-08	49431367	101944634	13225244	59	1499											
SLC8A3	6547	broad.mit.edu	37	chr14	70633677	70633677	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggctgctcctcctctatgCggacattgctcaaccttaca	7	12	7	15	1	2	0	1	0	1	0	4	1	4	1	3	2	5	3	3	2	3	3			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr14:70633677C>T	ENST00000381269.2	-	2	2216	c.1463G>A	c.(1462-1464)cGc>cAc	p.R488H	SLC8A3_ENST00000357887.3_Missense_Mutation_p.R488H|SLC8A3_ENST00000534137.1_Missense_Mutation_p.R488H|SLC8A3_ENST00000356921.2_Missense_Mutation_p.R488H|SLC8A3_ENST00000528359.1_Missense_Mutation_p.R488H	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	488					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	p.R488H(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CTCCTCTATGCGGACATTGCT	0.527													10	295					0	0	0.335167	0	0	T	70633677	C	T	70633677	3	4	26	1	0	0	0	0	1	0	0	0	14763	768	27	1	1459	1	SLC8A3	14	70633677	Missense_Mutation	SNP	C	TCGA-CH-5772-01A-11D-1576-08		70633677	36715863	60	1500											
AHNAK2	113146	broad.mit.edu	37	chr14	105417068	105417068	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcactttgggcaggtgccCtttgaggccggctccctcgg	3	10	14	14	2	0	1	0	1	0	0	2	1	1	1	3	5	2	3	3	5	0	2			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr14:105417068C>G	ENST00000333244.5	-	7	4839	c.4720G>C	c.(4720-4722)Ggg>Cgg	p.G1574R	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1574						nucleus		p.G1574R(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGCAGGTGCCCTTTGAGGCCG	0.607													10	657					0	0	0.411799	0	0	G	105417068	C	G	105417068	3	3	26	1	0	0	0	0	1	0	0	0	412	681	24	4	12671	4	AHNAK2	14	105417068	Missense_Mutation	SNP	C	TCGA-CH-5772-01A-11D-1576-08	34783391	105417068	1932472	61	1501											
ABHD2	11057	broad.mit.edu	37	chr15	89736470	89736470	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatgttcttgttgcagatttAtgttcctctcatgctggtta	6	20	8	7	0	2	1	1	0	2	1	4	1	3	1	1	1	2	6	1	1	3	8			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr15:89736470A>G	ENST00000352732.5	+	10	1521	c.1001A>G	c.(1000-1002)tAt>tGt	p.Y334C	ABHD2_ENST00000565973.1_Missense_Mutation_p.Y334C|ABHD2_ENST00000355100.3_Missense_Mutation_p.Y334C	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	334						integral to membrane	carboxylesterase activity	p.Y334C(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					TTGCAGATTTATGTTCCTCTC	0.408													33	123					0	0	0.750413	0	0	G	89736470	A	G	89736470	3	3	26	1	0	0	0	0	1	0	0	0	82	449	16	3	1031	3	ABHD2	15	89736470	Missense_Mutation	SNP	A	TCGA-CH-5772-01A-11D-1576-08		89736470	12794922	62	1502											
POLG	5428	broad.mit.edu	37	chr15	89871740	89871740	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcatgggtggcccacacGtcctgggcacagtactgcat	8	8	11	14	1	1	0	1	0	0	0	2	0	2	0	3	3	2	3	3	3	1	1			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr15:89871740G>A	ENST00000268124.5	-	6	1530	c.1197C>T	c.(1195-1197)gaC>gaT	p.D399D	POLG_ENST00000442287.2_Silent_p.D399D	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	399					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding	p.D399D(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			TGGCCCACACGTCCTGGGCAC	0.607								DNA polymerases (catalytic subunits)					39	45					0	0	0.840704	0	0	A	89871740	G	A	89871740	2	1	26	1	0	0	0	0	0	0	0	1	12248	1136	40	1		1	POLG	15	89871740	Silent	SNP	G	TCGA-CH-5772-01A-11D-1576-08	135270	89871740	12659652	63	1503											
SNX29	92017	broad.mit.edu	37	chr16	12136844	12136844	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccacatcgcctcagacgtggGccggggtcgcgcctggctgc	4	6	15	16	5	1	1	1	0	0	1	3	1	1	1	4	4	1	1	4	4	0	0			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr16:12136844G>T	ENST00000566228.1	+	5	407	c.338G>T	c.(337-339)gGc>gTc	p.G113V	SNX29_ENST00000568359.1_3'UTR	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	0					cell communication		phosphatidylinositol binding	p.G113V(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						TCAGACGTGGGCCGGGGTCGC	0.652													4	58					0.00909568	0.0095054	0.150653	1	0	T	12136844	G	T	12136844	3	4	26	1	0	0	0	0	1	0	0	0	14952	1203	42	4		4	SNX29	16	12136844	Missense_Mutation	SNP	G	TCGA-CH-5772-01A-11D-1576-08		12136844	78217909	64	1504											
ACSM3	6296	broad.mit.edu	37	chr16	20792044	20792044	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcctttgcagacatgccaGtgacagccacacctgtgtga	9	11	9	12	0	0	3	0	2	0	1	1	3	1	3	4	0	3	1	4	0	0	2			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr16:20792044G>C	ENST00000289416.5	+	5	1122	c.647G>C	c.(646-648)aGt>aCt	p.S216T	ERI2_ENST00000300005.3_Missense_Mutation_p.L303V|ACSM3_ENST00000440284.2_Missense_Mutation_p.S216T|ACSM3_ENST00000450120.2_Missense_Mutation_p.S208T	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	216					regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	p.S216T(1)|p.L303V(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						AGACATGCCAGTGACAGCCAC	0.428													5	219					0	0	0.184627	0	0	C	20792044	G	C	20792044	3	2	26	1	0	0	0	0	1	0	0	0	185	1029	36	4	661	4	ACSM3	16	20792044	Missense_Mutation	SNP	G	TCGA-CH-5772-01A-11D-1576-08	8655200	20792044	69562709	65	1505											
HERPUD1	9709	broad.mit.edu	37	chr16	56976046	56976046	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgtgcttcctttgaaggcAtcacgttgggtggtttccat	6	16	11	8	1	1	1	1	1	0	0	3	1	3	1	2	3	1	4	2	3	2	5			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr16:56976046A>G	ENST00000439977.2	+	7	1105	c.908A>G	c.(907-909)cAt>cGt	p.H303R	HERPUD1_ENST00000300302.5_Missense_Mutation_p.H302R|HERPUD1_ENST00000570273.1_3'UTR|HERPUD1_ENST00000379792.2_Missense_Mutation_p.H278R|HERPUD1_ENST00000344114.4_Missense_Mutation_p.H144R	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1	303						endoplasmic reticulum membrane|integral to membrane	protein binding	p.H302R(1)|p.H303R(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						CTTTGAAGGCATCACGTTGGG	0.478			T	ERG	prostate								10	263					0	0	0.411799	0	0	G	56976046	A	G	56976046	3	3	26	1	0	0	0	0	1	0	0	0	7104	217	8	3	934	3	HERPUD1	16	56976046	Missense_Mutation	SNP	A	TCGA-CH-5772-01A-11D-1576-08	36184002	56976046	33378707	66	1506											
CDH13	1012	broad.mit.edu	37	chr16	83704517	83704517	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atcatcaacggaaaccccggGcagagctttgaaatccacac	14	6	8	13	2	2	2	2	1	0	1	3	3	3	3	3	2	3	2	3	2	3	1			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr16:83704517G>C	ENST00000566620.1	+	9	1514	c.1224G>C	c.(1222-1224)ggG>ggC	p.G408G	CDH13_ENST00000428848.3_Silent_p.G369G|CDH13_ENST00000268613.10_Silent_p.G455G	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	408	Cadherin 3.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding	p.G408G(1)		large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		GAAACCCCGGGCAGAGCTTTG	0.502													10	221					0	0	0.361761	0	0	C	83704517	G	C	83704517	2	2	26	1	0	0	0	0	0	0	0	1	3121	1190	42	4		4	CDH13	16	83704517	Silent	SNP	G	TCGA-CH-5772-01A-11D-1576-08	26728471	83704517	6650236	67	1507											
TNFSF12	8742	broad.mit.edu	37	chr17	7460486	7460486	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggatggtgtgctggccctgcGctgcctggaggaattctcag	5	10	16	10	1	1	0	1	0	1	0	2	3	1	3	2	5	3	2	2	5	1	1			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr17:7460486G>C	ENST00000293825.6	+	7	832	c.569G>C	c.(568-570)cGc>cCc	p.R190P	TNFSF12_ENST00000462811.1_3'UTR|TNFSF12-TNFSF13_ENST00000293826.4_Intron|TNFSF12_ENST00000557233.1_Intron	NM_003809.2	NP_003800.1			tumor necrosis factor (ligand) superfamily, member 12									p.R190H(1)|p.R190P(1)		central_nervous_system(1)|endometrium(3)|large_intestine(5)|prostate(2)	11		Prostate(122;0.157)				CTGGCCCTGCGCTGCCTGGAG	0.657													28	45					0	0	0.681144	0	0	C	7460486	G	C	7460486	3	2	26	1	0	0	0	0	1	0	0	0	16363	1087	38	4	595	4	TNFSF12	17	7460486	Missense_Mutation	SNP	G	TCGA-CH-5772-01A-11D-1576-08		7460486	73734724	68	1508											
PER1	5187	broad.mit.edu	37	chr17	8052022	8052022	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacggctgtgcaggggcccCatctgagacccggatcttgg	6	7	15	13	2	2	1	0	1	2	1	2	3	2	2	3	5	1	3	3	5	0	1			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr17:8052022C>A	ENST00000317276.4	-	8	1225	c.988G>T	c.(988-990)Ggg>Tgg	p.G330W	PER1_ENST00000581082.1_Missense_Mutation_p.G310W|PER1_ENST00000354903.5_Missense_Mutation_p.G314W	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	330					circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	p.G330W(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GCAGGGGCCCCATCTGAGACC	0.642			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes					5	203					1.23904e-05	1.35593e-05	0.184627	1	0	A	8052022	C	A	8052022	3	1	26	1	0	0	0	0	1	0	0	0	11776	594	21	4	2948	4	PER1	17	8052022	Missense_Mutation	SNP	C	TCGA-CH-5772-01A-11D-1576-08	591536	8052022	73143188	69	1509											
PIK3R5	23533	broad.mit.edu	37	chr17	8792523	8792523	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atggggatggtgtggagcttCcctggttttgcagtgtctgt	4	15	16	6	0	1	0	0	0	1	0	2	2	2	2	1	5	2	3	1	5	0	3			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr17:8792523C>T	ENST00000447110.1	-	9	952	c.828G>A	c.(826-828)ggG>ggA	p.G276G	PIK3R5_ENST00000584803.1_Silent_p.G276G|PIK3R5_ENST00000581552.1_Silent_p.G276G	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	276				AKTLAELEDIFTETAEAQELASGIGDAAEARRWLRTKLQAV GEKAGFPGVLDTAKPGKLHTIPIPVARCYTYSWSQDS -> TLQNQGSSIPSPSLSPGATPTAGARTALTSCRKSCSRNRSC SSQGSWEMMKRRKRRRRRWRRTWKLMGTVPREIPCSP (in Ref. 6; AAW63122).	platelet activation	cytosol|membrane|nucleus		p.G276G(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						TGTGGAGCTTCCCTGGTTTTG	0.592													17	48					0	0	0.500413	0	0	T	8792523	C	T	8792523	2	4	26	1	0	0	0	0	0	0	0	1	11970	842	30	2		2	PIK3R5	17	8792523	Silent	SNP	C	TCGA-CH-5772-01A-11D-1576-08	740501	8792523	72402687	70	1510											
MYH1	4619	broad.mit.edu	37	chr17	10405105	10405105	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttaagcttttcatcaagttGttgtttgtcattttctatat	8	23	5	5	0	4	0	3	0	1	0	4	0	4	0	0	0	1	4	0	0	4	11			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr17:10405105G>T	ENST00000226207.5	-	25	3329	c.3235C>A	c.(3235-3237)Caa>Aaa	p.Q1079K	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1079						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.Q1079K(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCATCAAGTTGTTGTTTGTCA	0.343													11	78					0.000673444	0.000723329	0.361761	1	0	T	10405105	G	T	10405105	3	4	26	1	0	0	0	0	1	0	0	0	10077	1386	48	4	2648	4	MYH1	17	10405105	Missense_Mutation	SNP	G	TCGA-CH-5772-01A-11D-1576-08	1612582	10405105	70790105	71	1511											
SLFN5	162394	broad.mit.edu	37	chr17	33588030	33588030	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggttctccagttgagtttGtcatctgccacgccccgcag	6	12	10	13	2	3	1	1	1	2	0	4	1	3	1	4	1	1	4	4	1	0	3			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr17:33588030G>C	ENST00000299977.4	+	3	1201	c.1053G>C	c.(1051-1053)ttG>ttC	p.L351F	SLFN5_ENST00000542451.1_Missense_Mutation_p.L351F	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	351					cell differentiation		ATP binding	p.L351F(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		AGTTGAGTTTGTCATCTGCCA	0.468													13	281					0	0	0.479597	0	0	C	33588030	G	C	33588030	3	2	26	1	0	0	0	0	1	0	0	0	14791	1368	48	4	1059	4	SLFN5	17	33588030	Missense_Mutation	SNP	G	TCGA-CH-5772-01A-11D-1576-08	23182925	33588030	47607180	72	1512											
RSAD1	55316	broad.mit.edu	37	chr17	48557076	48557076	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggctgccatgcagaagtgTctggtgaccgaagctcagac	10	7	14	10	1	2	3	1	1	1	2	2	5	2	3	2	2	3	3	2	2	2	0			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr17:48557076T>C	ENST00000258955.2	+	2	307	c.222T>C	c.(220-222)tgT>tgC	p.C74C		NM_018346.1	NP_060816.1	Q9HA92	RSAD1_HUMAN	radical S-adenosyl methionine domain containing 1	74					porphyrin biosynthetic process	mitochondrion	4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding	p.C74C(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			TGCAGAAGTGTCTGGTGACCG	0.597											OREG0024566	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	86					0	0	0.361761	0	0	C	48557076	T	C	48557076	2	2	26	1	0	0	0	0	0	0	0	1	13746	1673	58	3		3	RSAD1	17	48557076	Silent	SNP	T	TCGA-CH-5772-01A-11D-1576-08	14969046	48557076	32638134	73	1513											
LAMA1	284217	broad.mit.edu	37	chr18	7034620	7034620	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaggcacaagtctaaccaCgtttaggtactcttcataag	12	12	7	10	1	4	0	2	0	2	0	4	0	4	0	1	2	2	3	1	2	5	7			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr18:7034620C>T	ENST00000389658.3	-	14	2002	c.1909G>A	c.(1909-1911)Gtg>Atg	p.V637M		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	637	Laminin IV type A 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	p.V637M(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGTCTAACCACGTTTAGGTAC	0.408													5	205					0	0	0.217242	0	0	T	7034620	C	T	7034620	3	4	26	1	0	0	0	0	1	0	0	0	8644	536	19	1	7518	1	LAMA1	18	7034620	Missense_Mutation	SNP	C	TCGA-CH-5772-01A-11D-1576-08		7034620	71042628	74	1514											
ATP5A1	498	broad.mit.edu	37	chr18	43668136	43668137	+	Frame_Shift_Ins	INS	-	-	T																															tcttttgaccaatagcaacaINStaaatacagtacagcttctt																										TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr18:43668136_43668137insT	ENST00000593152.2	-	6	1126_1127	c.587_588insA	c.(586-588)tgtfs	p.C196fs	ATP5A1_ENST00000398752.6_Frame_Shift_Ins_p.C246fs|ATP5A1_ENST00000282050.2_Frame_Shift_Ins_p.C246fs|ATP5A1_ENST00000590665.1_Frame_Shift_Ins_p.C224fs	NM_001257335.1	NP_001244264.1	P25705	ATPA_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle	246					ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain	mitochondrial matrix|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						CAATAGCAACATAAATACAGTA	0.347													43	229	---	---	---	---						T	43668137	-	T	43668136	7	5	26	1	0	1	1	0	0	0	0	0	1146	224	8	0	951	0	ATP5A1	18	43668136	Frame_Shift_Ins	INS	-	TCGA-CH-5772-01A-11D-1576-08	36633516	43668136	34409112	75	1515											
HOOK2	29911	broad.mit.edu	37	chr19	12878871	12878871	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atacttttcctccaggttgcGgcattcaaatagccatttct	9	15	6	11	1	2	0	1	0	1	0	4	0	4	0	3	2	3	2	3	2	3	7			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr19:12878871G>A	ENST00000264827.5	-	12	1341	c.1171C>T	c.(1171-1173)Cgc>Tgc	p.R391C	HOOK2_ENST00000397668.3_Missense_Mutation_p.R391C|HOOK2_ENST00000589965.1_Intron	NM_001100176.1	NP_001093646.1	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	391	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding	p.R391C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						TCCAGGTTGCGGCATTCAAAT	0.572													5	281					0	0	0.184627	0	0	A	12878871	G	A	12878871	3	1	26	1	0	0	0	0	1	0	0	0	7324	1116	39	1	1036	1	HOOK2	19	12878871	Missense_Mutation	SNP	G	TCGA-CH-5772-01A-11D-1576-08		12878871	46250112	76	1516											
ZNF208	7757	broad.mit.edu	37	chr19	22154452	22154452	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaattaccttatgtttagtAaggattgagaacgtactaaa	15	14	8	4	1	0	2	0	2	0	1	0	4	0	3	1	1	3	3	1	1	9	8			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr19:22154452A>G	ENST00000397126.4	-	4	3532	c.3384T>C	c.(3382-3384)ctT>ctC	p.L1128L	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208									p.L1000L(2)|p.L1128L(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TATGTTTAGTAAGGATTGAGA	0.373													4	190					0	0	0.150653	0	0	G	22154452	A	G	22154452	2	3	26	1	0	0	0	0	0	0	0	1	17824	349	13	3		3	ZNF208	19	22154452	Silent	SNP	A	TCGA-CH-5772-01A-11D-1576-08	9275581	22154452	36974531	77	1517											
SIPA1L3	23094	broad.mit.edu	37	chr19	38572844	38572844	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatcgacgtgcagggcatGcccgagcagagcttcttcga	8	8	12	13	4	1	1	0	0	1	1	4	4	2	1	2	1	4	4	2	1	0	2			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr19:38572844G>T	ENST00000222345.6	+	3	1148	c.639G>T	c.(637-639)atG>atT	p.M213I		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	213					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	p.M213I(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TGCAGGGCATGCCCGAGCAGA	0.721													4	148					1.23904e-05	1.35593e-05	0.184627	1	0	T	38572844	G	T	38572844	3	4	26	1	0	0	0	0	1	0	0	0	14386	1319	46	4	641	4	SIPA1L3	19	38572844	Missense_Mutation	SNP	G	TCGA-CH-5772-01A-11D-1576-08	16418392	38572844	20556139	78	1518											
NKPD1	284353	broad.mit.edu	37	chr19	45656261	45656261	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgtggctgtcggacagcagCgtgttgatggcgttgagcac	6	9	17	9	4	0	2	0	2	0	0	1	3	0	3	0	3	3	5	0	3	0	2			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr19:45656261C>A	ENST00000317951.4	-	4	1433	c.1434G>T	c.(1432-1434)acG>acT	p.T478T	NKPD1_ENST00000438936.2_Silent_p.T256T|NKPD1_ENST00000589776.1_Silent_p.T256T|NKPD1_ENST00000429338.1_Silent_p.T256T	NM_198478.3	NP_940880.3			NTPase, KAP family P-loop domain containing 1									p.T256T(1)		endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		CGGACAGCAGCGTGTTGATGG	0.672													3	12					0.115264	0.118324	0.115264	1	0	A	45656261	C	A	45656261	2	1	26	1	0	0	0	0	0	0	0	1	10493	755	27	4		4	NKPD1	19	45656261	Silent	SNP	C	TCGA-CH-5772-01A-11D-1576-08	7083417	45656261	13472722	79	1519											
ARHGAP35	2909	broad.mit.edu	37	chr19	47423299	47423299	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagccttgggaagaggcccGtagttttattatgaatgagg	12	11	13	5	1	0	3	0	2	0	1	0	4	0	4	2	3	1	2	2	3	6	5			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr19:47423299G>A	ENST00000404338.3	+	1	1367	c.1367G>A	c.(1366-1368)cGt>cAt	p.R456H		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	456	FF 3.				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	p.R456H(3)									GAAGAGGCCCGTAGTTTTATT	0.413													4	73					0	0	0.150653	0	0	A	47423299	G	A	47423299	3	1	26	1	0	0	0	0	1	0	0	0	6836	1145	40	1	1369	1	ARHGAP35	19	47423299	Missense_Mutation	SNP	G	TCGA-CH-5772-01A-11D-1576-08	1767038	47423299	11705684	80	1520											
DHX34	9704	broad.mit.edu	37	chr19	47876082	47876082	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcgcccttcacccgcagcGcccagagcagcccagagtgc	8	4	11	18	3	1	2	1	0	0	2	2	2	1	2	4	0	4	2	4	0	0	1	rs146830596	byFrequency	TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr19:47876082G>A	ENST00000328771.4	+	8	2213	c.1864G>A	c.(1864-1866)Gcc>Acc	p.A622T		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	622						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding	p.A622T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CACCCGCAGCGCCCAGAGCAG	0.657													10	68					0	0	0.361761	0	0	A	47876082	G	A	47876082	3	1	26	1	0	0	0	0	1	0	0	0	4535	1087	38	1	1890	1	DHX34	19	47876082	Missense_Mutation	SNP	G	TCGA-CH-5772-01A-11D-1576-08	452783	47876082	11252901	81	1521											
NLRP4	147945	broad.mit.edu	37	chr19	56369349	56369349	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagaactgagggagttgcCgccaacgagtttggctgact	10	8	14	9	2	0	3	0	2	0	1	0	6	0	4	2	2	3	3	2	2	2	2			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr19:56369349C>T	ENST00000301295.6	+	3	1012	c.590C>T	c.(589-591)cCg>cTg	p.P197L	NLRP4_ENST00000346986.5_Missense_Mutation_p.P197L|NLRP4_ENST00000587891.1_Missense_Mutation_p.P122L	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	197	NACHT.						ATP binding	p.P197L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AGGGAGTTGCCGCCAACGAGT	0.517													89	103					0	0	0.870114	0	0	T	56369349	C	T	56369349	3	4	26	1	0	0	0	0	1	0	0	0	10526	652	23	1	596	1	NLRP4	19	56369349	Missense_Mutation	SNP	C	TCGA-CH-5772-01A-11D-1576-08	8493267	56369349	2759634	82	1522											
ZNF835	90485	broad.mit.edu	37	chr19	57175472	57175472	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagcgcttgccgcagtcGtggcaggggtaaggccgctc	6	7	16	12	4	0	1	0	1	0	0	2	1	0	1	2	4	2	5	2	4	2	2			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr19:57175472G>A	ENST00000537055.2	-	2	1326	c.1095C>T	c.(1093-1095)caC>caT	p.H365H		NM_001005850.2	NP_001005850.2			zinc finger protein 835									p.H387H(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						TGCCGCAGTCGTGGCAGGGGT	0.701													4	39					0	0	0.184627	0	0	A	57175472	G	A	57175472	2	1	26	1	0	0	0	0	0	0	0	1	18233	1136	40	1		1	ZNF835	19	57175472	Silent	SNP	G	TCGA-CH-5772-01A-11D-1576-08	806123	57175472	1953511	83	1523											
CDH22	64405	broad.mit.edu	37	chr20	44869813	44869813	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaatgtcgcctgtcagctcGtcgatcaggaagatggtccc	8	10	12	11	3	2	2	2	1	0	1	6	4	3	3	2	2	1	1	2	2	2	0			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr20:44869813G>A	ENST00000372262.3	-	2	739	c.339C>T	c.(337-339)gaC>gaT	p.D113D	CDH22_ENST00000537909.1_Silent_p.D113D	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	113	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D113D(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				CTGTCAGCTCGTCGATCAGGA	0.627													7	43					0	0	0.27861	0	0	A	44869813	G	A	44869813	2	1	26	1	0	0	0	0	0	0	0	1	3129	1136	40	1		1	CDH22	20	44869813	Silent	SNP	G	TCGA-CH-5772-01A-11D-1576-08		44869813	18155707	84	1524											
POTED	317754	broad.mit.edu	37	chr21	15011886	15011886	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttctgaagaacagaacactgGaatatcacaagatgagattc	17	9	8	7	0	2	5	1	2	1	4	3	7	2	6	0	1	2	0	0	1	6	3			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr21:15011886G>A	ENST00000299443.5	+	10	1512	c.1460G>A	c.(1459-1461)gGa>gAa	p.G487E		NM_174981.3|NM_207355.2	NP_778146.2|NP_997238.2	Q86YR6	POTED_HUMAN	POTE ankyrin domain family, member D	487						plasma membrane		p.G487E(1)		central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						CAGAACACTGGAATATCACAA	0.323													3	66					0	0	0.307466	0	0	A	15011886	G	A	15011886	3	1	26	1	0	0	0	0	1	0	0	0	12310	1174	41	2	1498	2	POTED	21	15011886	Missense_Mutation	SNP	G	TCGA-CH-5772-01A-11D-1576-08		15011886	33118009	85	1525											
SEZ6L	23544	broad.mit.edu	37	chr22	26701985	26701985	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaatgccaccatcggccgCgtcctctccccaagttaccc	8	7	6	20	3	1	0	0	0	1	0	4	0	2	0	7	1	2	1	7	1	3	1			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr22:26701985C>T	ENST00000529632.2	+	6	1585	c.1389C>T	c.(1387-1389)cgC>cgT	p.R463R	SEZ6L_ENST00000403121.1_Silent_p.R236R|SEZ6L_ENST00000343706.4_Silent_p.R463R|SEZ6L_ENST00000402979.1_Silent_p.R236R|SEZ6L_ENST00000248933.6_Silent_p.R463R|SEZ6L_ENST00000404234.3_Silent_p.R463R|SEZ6L_ENST00000360929.3_Silent_p.R463R	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	463	CUB 2.					endoplasmic reticulum membrane|integral to membrane		p.R463R(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CCATCGGCCGCGTCCTCTCCC	0.567													5	70					0	0	0.184627	0	0	T	26701985	C	T	26701985	2	4	26	1	0	0	0	0	0	0	0	1	14197	755	27	1		1	SEZ6L	22	26701985	Silent	SNP	C	TCGA-CH-5772-01A-11D-1576-08		26701985	24602581	86	1526											
BRD1	23774	broad.mit.edu	37	chr22	50217746	50217746	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgttttccttgttgctgtTgcactcactcatctcttgag	4	18	8	11	0	3	1	2	1	1	0	5	1	4	1	1	0	2	6	1	0	0	6			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr22:50217746T>C	ENST00000216267.8	-	1	706	c.220A>G	c.(220-222)Aac>Gac	p.N74D	BRD1_ENST00000404034.1_Missense_Mutation_p.N74D|BRD1_ENST00000457780.2_Missense_Mutation_p.N74D|BRD1_ENST00000404760.1_Missense_Mutation_p.N74D	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	74					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding	p.N74D(1)		endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TTGTTGCTGTTGCACTCACTC	0.473													6	200					0	0	0.248553	0	0	C	50217746	T	C	50217746	3	2	26	1	0	0	0	0	1	0	0	0	1503	1812	63	3	3004	3	BRD1	22	50217746	Missense_Mutation	SNP	T	TCGA-CH-5772-01A-11D-1576-08	23515761	50217746	1086820	87	1527											
LMF2	91289	broad.mit.edu	37	chr22	50941923	50941923	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttctgggaggctggcctgCgcttctccccgctgactggt	2	12	13	14	2	2	1	0	1	2	0	3	2	2	2	3	4	1	3	3	4	0	2			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chr22:50941923C>T	ENST00000216080.5	-	14	2114	c.1946G>A	c.(1945-1947)cGc>cAc	p.R649H	LMF2_ENST00000380796.3_Missense_Mutation_p.R561H|LMF2_ENST00000474879.2_Missense_Mutation_p.R674H			Q9BU23	LMF2_HUMAN	lipase maturation factor 2	674						endoplasmic reticulum membrane|integral to membrane		p.R649H(1)		breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGCTGGCCTGCGCTTCTCCCC	0.662													6	34					0	0	0.217242	0	0	T	50941923	C	T	50941923	3	4	26	1	0	0	0	0	1	0	0	0	8887	768	27	1	106	1	LMF2	22	50941923	Missense_Mutation	SNP	C	TCGA-CH-5772-01A-11D-1576-08	724177	50941923	362643	88	1528											
PDK3	5165	broad.mit.edu	37	chrX	24516991	24516991	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttagaatatgaaaataagagCcctgaggatccacaggtctt	15	10	9	7	0	1	4	0	2	1	2	2	5	2	5	2	2	1	0	2	2	6	4			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chrX:24516991C>T	ENST00000441463.2	+	3	294	c.294C>T	c.(292-294)agC>agT	p.S98S	PDK3_ENST00000493226.1_3'UTR|PDK3_ENST00000379162.4_Silent_p.S98S	NM_001142386.2	NP_001135858.1	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase, isozyme 3	98					glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	p.S98S(2)		NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						AAAATAAGAGCCCTGAGGATC	0.323													31	14					0	0	0.740014	0	0	T	24516991	C	T	24516991	2	4	26	1	0	0	0	0	0	0	0	1	11724	738	26	2		2	PDK3	23	24516991	Silent	SNP	C	TCGA-CH-5772-01A-11D-1576-08		24516991	130753569	89	1529											
ZMYM3	9203	broad.mit.edu	37	chrX	70463721	70463722	+	Frame_Shift_Del	DEL	AT	AT	-																															tagtagatactgtcaggttcAtatcgttcaccattgggccg																										TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chrX:70463721_70463722delAT	ENST00000373998.1	-	21	4050_4051	c.3353_3354delAT	c.(3352-3354)tfs	p.Y1118fs	ZMYM3_ENST00000353904.2_Frame_Shift_Del_p.Y1130fs|ZMYM3_ENST00000314425.5_Frame_Shift_Del_p.Y1130fs|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373988.1_Frame_Shift_Del_p.Y1132fs|ZMYM3_ENST00000373984.3_Frame_Shift_Del_p.Y1125fs	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1130					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TGTCAGGTTCATATCGTTCACC	0.495													53	26	---	---	---	---						-	70463722	AT	-	70463721	7	5	26	1	0	1	0	1	0	0	0	0	17759	224	8	0	742	0	ZMYM3	23	70463721	Frame_Shift_Del	DEL	AT	TCGA-CH-5772-01A-11D-1576-08	45946730	70463721	84806839	90	1530											
ZCCHC5	203430	broad.mit.edu	37	chrX	77913571	77913571	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcccgggttgctggaggcGccagggactctggggctgct	4	8	17	12	2	1	0	0	0	1	0	2	2	2	2	2	6	2	4	2	6	0	1	rs144237768		TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chrX:77913571G>A	ENST00000321110.1	-	2	642	c.347C>T	c.(346-348)gCg>gTg	p.A116V		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	116	Pro-rich.						nucleic acid binding|zinc ion binding	p.A116V(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						TGCTGGAGGCGCCAGGGACTC	0.627													5	49					0	0	0.217242	0	0	A	77913571	G	A	77913571	3	1	26	1	0	0	0	0	1	0	0	0	17649	1087	38	1	1084	1	ZCCHC5	23	77913571	Missense_Mutation	SNP	G	TCGA-CH-5772-01A-11D-1576-08	7449850	77913571	77356989	91	1531											
PCDH19	57526	broad.mit.edu	37	chrX	99662413	99662413	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctctcatattcctgcagtcGaaagggcacattgcccagca	10	9	9	13	1	1	0	1	0	1	0	4	1	2	0	2	1	3	4	2	1	2	3			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chrX:99662413G>A	ENST00000373034.4	-	1	2858	c.1183C>T	c.(1183-1185)Cga>Tga	p.R395*	PCDH19_ENST00000255531.7_Nonsense_Mutation_p.R395*|PCDH19_ENST00000420881.2_Nonsense_Mutation_p.R395*	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	395	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R395*(1)		breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TCCTGCAGTCGAAAGGGCACA	0.607													7	125					0	0	0.248553	0	0	A	99662413	G	A	99662413	4	1	26	1	0	0	0	0	0	1	0	0	11561	1066	37	1	2287	1	PCDH19	23	99662413	Nonsense_Mutation	SNP	G	TCGA-CH-5772-01A-11D-1576-08	21748842	99662413	55608147	92	1532											
PLP1	5354	broad.mit.edu	37	chrX	103045510	103045510	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgtccttaaactcatgggccGaggcaccaagttctgatccc	9	9	9	14	2	2	1	1	1	1	0	4	2	4	1	4	2	1	2	4	2	3	2			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chrX:103045510G>A	ENST00000418604.1	+	8	1098	c.818G>A	c.(817-819)cGa>cAa	p.R273Q	PLP1_ENST00000466486.1_3'UTR|PLP1_ENST00000303958.2_Missense_Mutation_p.R273Q|PLP1_ENST00000361621.2_Missense_Mutation_p.R238Q	NM_001128834.1	NP_001122306.1	P60201	MYPR_HUMAN	proteolipid protein 1	273					cell death|synaptic transmission	integral to membrane		p.R273Q(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						CTCATGGGCCGAGGCACCAAG	0.473													9	153					0	0	0.335167	0	0	A	103045510	G	A	103045510	3	1	26	1	0	0	0	0	1	0	0	0	12152	1058	37	1	844	1	PLP1	23	103045510	Missense_Mutation	SNP	G	TCGA-CH-5772-01A-11D-1576-08	3383097	103045510	52225050	93	1533											
SPRY3	10251	broad.mit.edu	37	chrX	155003970	155003970	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctagtgagcacctcttcaTctgtgaggaatgtgggcgct	7	11	12	11	1	3	2	1	2	2	0	3	3	3	3	2	2	1	2	2	2	2	2			TCGA-CH-5772-01A-11D-1576-08	TCGA-CH-5772-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a94aed7-03d7-463d-bb87-bca2994f297d	87c4609d-4743-435b-8e1c-b5187a750224	g.chrX:155003970T>A	ENST00000302805.2	+	2	868	c.437T>A	c.(436-438)aTc>aAc	p.I146N		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	146					multicellular organismal development|regulation of signal transduction	cytoplasm|membrane		p.I146N(1)				all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CACCTCTTCATCTGTGAGGAA	0.612													7	221					0	0	0.248553	0	0	A	155003970	T	A	155003970	3	1	26	1	0	0	0	0	1	0	0	0	15163	1435	50	5	439	5	SPRY3	23	155003970	Missense_Mutation	SNP	T	TCGA-CH-5772-01A-11D-1576-08	51958460	155003970	266590	94	1534											
UBE4B	10277	broad.mit.edu	37	chr1	10207138	10207138	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctccgcatcctggaccccGcatatcccgagtgagtgtgc	6	9	11	15	3	0	1	0	1	0	0	3	3	3	2	5	1	2	3	5	1	1	1	rs147329205		TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr1:10207138G>A	ENST00000377157.3	+	18	2907	c.1846G>A	c.(1846-1848)Gca>Aca	p.A616T	UBE4B_ENST00000253251.8_Missense_Mutation_p.A732T|UBE4B_ENST00000343090.6_Missense_Mutation_p.A861T	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN	ubiquitination factor E4B	861					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding	p.A732T(1)|p.A861T(1)		NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		CCTGGACCCCGCATATCCCGA	0.493													6	343					0	0	0.248553	0	0	A	10207138	G	A	10207138	3	1	27	1	0	0	0	0	1	0	0	0	16944	1087	38	1	2655	1	UBE4B	1	10207138	Missense_Mutation	SNP	G	TCGA-CH-5788-01A-11D-1576-08		10207138	239043483	1	1535											
HSPG2	3339	broad.mit.edu	37	chr1	22178148	22178148	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctgcccttccgccacttgcGaggaggagggctcgatgcgg	5	8	15	13	4	1	0	0	0	1	0	3	4	2	2	3	4	3	1	3	4	0	2			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr1:22178148G>A	ENST00000374695.3	-	55	7128	c.7049C>T	c.(7048-7050)tCg>tTg	p.S2350L	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2350	Ig-like C2-type 9.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	p.S2350L(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CGCCACTTGCGAGGAGGAGGG	0.652													4	111					0	0	0.248553	0	0	A	22178148	G	A	22178148	3	1	27	1	0	0	0	0	1	0	0	0	7474	1059	37	1	6298	1	HSPG2	1	22178148	Missense_Mutation	SNP	G	TCGA-CH-5788-01A-11D-1576-08	11971010	22178148	227072473	2	1536											
MAST2	23139	broad.mit.edu	37	chr1	46497980	46497980	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcatgaggcctcccatcatCatccaccgagctggcaagaa	12	6	9	14	1	2	2	2	1	0	1	4	3	4	2	4	2	2	3	4	2	2	0			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr1:46497980C>T	ENST00000361297.2	+	25	3601	c.3318C>T	c.(3316-3318)atC>atT	p.I1106I	MAST2_ENST00000372009.2_Intron|MAST2_ENST00000372008.1_Intron	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	1106	PDZ.				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CTCCCATCATCATCCACCGAG	0.572													4	117					0	0	0.307466	0	0	T	46497980	C	T	46497980	2	4	27	1	0	0	0	0	0	0	0	1	9375	816	29	2		2	MAST2	1	46497980	Silent	SNP	C	TCGA-CH-5788-01A-11D-1576-08	24319832	46497980	202752641	3	1537											
CDCP2	200008	broad.mit.edu	37	chr1	54605390	54605390	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggctgcaaagcctccccttCgccctcagtggacccactcc	7	7	8	19	1	1	0	1	0	0	0	4	1	3	1	6	2	2	2	6	2	1	1			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr1:54605390C>T	ENST00000371330.1	-	4	2000	c.1153G>A	c.(1153-1155)Gaa>Aaa	p.E385K	CDCP2_ENST00000530059.1_Intron	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	385						extracellular region		p.E385K(1)		kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						GCCTCCCCTTCGCCCTCAGTG	0.612													40	38					0	0	0.827153	0	0	T	54605390	C	T	54605390	3	4	27	1	0	0	0	0	1	0	0	0	3116	893	31	1	200	1	CDCP2	1	54605390	Missense_Mutation	SNP	C	TCGA-CH-5788-01A-11D-1576-08	8107410	54605390	194645231	4	1538											
COL11A1	1301	broad.mit.edu	37	chr1	103544235	103544235	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcccgtcagcgatgttaacaGttctgaagaggggatagtct	10	11	12	8	2	3	2	1	1	2	1	4	4	4	3	1	2	2	2	1	2	3	3			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr1:103544235G>A	ENST00000358392.2	-	3	784	c.467C>T	c.(466-468)aCt>aTt	p.T156I	COL11A1_ENST00000353414.4_Missense_Mutation_p.T156I|COL11A1_ENST00000370096.3_Missense_Mutation_p.T156I|COL11A1_ENST00000512756.1_Missense_Mutation_p.T156I	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	156	TSP N-terminal.				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	p.T156I(2)|p.T156S(1)		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)		GATGTTAACAGTTCTGAAGAG	0.368													68	88					0	0	0.870114	0	0	A	103544235	G	A	103544235	3	1	27	1	0	0	0	0	1	0	0	0	3690	1029	36	2	5370	2	COL11A1	1	103544235	Missense_Mutation	SNP	G	TCGA-CH-5788-01A-11D-1576-08	48938845	103544235	145706386	5	1539											
NTRK1	4914	broad.mit.edu	37	chr1	156830913	156830913	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggatagcctccaccacctgCccggcgcagagaacctgact	9	6	10	16	2	0	2	0	1	0	1	1	4	1	3	6	2	3	1	6	2	2	1			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr1:156830913C>T	ENST00000368196.3	+	1	307	c.187C>T	c.(187-189)Ccc>Tcc	p.P63S	NTRK1_ENST00000392302.2_Intron|NTRK1_ENST00000524377.1_Missense_Mutation_p.P63S|NTRK1_ENST00000358660.3_Missense_Mutation_p.P63S	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	63					activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.P63S(2)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	CCACCACCTGCCCGGCGCAGA	0.736			T	"TPM3, TPR, TFG"	papillary thyroid					TSP Lung(10;0.080)			5	7					0	0	0.217242	0	0	T	156830913	C	T	156830913	3	4	27	1	0	0	0	0	1	0	0	0	10754	739	26	2	319	2	NTRK1	1	156830913	Missense_Mutation	SNP	C	TCGA-CH-5788-01A-11D-1576-08	53286678	156830913	92419708	6	1540											
ZBTB37	84614	broad.mit.edu	37	chr1	173839439	173839439	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgagccatctaaaccagttgCgcatgcagggccgtctctgt	8	10	11	12	2	2	1	0	1	2	0	3	1	2	1	3	1	4	3	3	1	2	2			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr1:173839439C>T	ENST00000367704.1	+	3	475	c.76C>T	c.(76-78)Cgc>Tgc	p.R26C	ZBTB37_ENST00000367702.1_Missense_Mutation_p.R26C|ZBTB37_ENST00000432989.1_Missense_Mutation_p.R26C|ZBTB37_ENST00000427304.1_Missense_Mutation_p.R26C|ZBTB37_ENST00000367701.4_Missense_Mutation_p.R26C			Q5TC79	ZBT37_HUMAN	zinc finger and BTB domain containing 37	26					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4)	13						AAACCAGTTGCGCATGCAGGG	0.527													4	108					0	0	0.150653	0	0	T	173839439	C	T	173839439	3	4	27	1	0	0	0	0	1	0	0	0	17597	768	27	1	78	1	ZBTB37	1	173839439	Missense_Mutation	SNP	C	TCGA-CH-5788-01A-11D-1576-08	17008526	173839439	75411182	7	1541											
KIF14	9928	broad.mit.edu	37	chr1	200587742	200587742	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatccgacttcaaatgcagcTtaagtcggctactgtgggtg	9	12	11	9	2	1	0	1	0	0	0	3	1	2	0	1	2	3	3	1	2	4	4			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr1:200587742T>G	ENST00000367350.4	-	2	548	c.110A>C	c.(109-111)aAg>aCg	p.K37T		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	37	Required for PRC1-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding	p.K37T(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						CAAATGCAGCTTAAGTCGGCT	0.368													48	161					0	0	0.870114	0	0	G	200587742	T	G	200587742	3	3	27	1	0	0	0	0	1	0	0	0	8318	1609	56	5	4952	5	KIF14	1	200587742	Missense_Mutation	SNP	T	TCGA-CH-5788-01A-11D-1576-08	26748303	200587742	48662879	8	1542											
LGR6	59352	broad.mit.edu	37	chr1	202245638	202245638	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcgttccagaatctcaccagCcttgtggtgctgtgagtgct	6	12	12	11	1	1	2	1	1	1	1	3	2	2	2	3	1	3	3	3	1	1	2			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr1:202245638C>T	ENST00000367278.3	+	5	722	c.633C>T	c.(631-633)agC>agT	p.S211S	LGR6_ENST00000308543.3_3'UTR|LGR6_ENST00000439764.2_Intron|LGR6_ENST00000255432.7_Silent_p.S159S	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	211						integral to membrane|plasma membrane	protein-hormone receptor activity	p.S211S(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						ATCTCACCAGCCTTGTGGTGC	0.617													12	19					0	0	0.500413	0	0	T	202245638	C	T	202245638	2	4	27	1	0	0	0	0	0	0	0	1	8798	738	26	2		2	LGR6	1	202245638	Silent	SNP	C	TCGA-CH-5788-01A-11D-1576-08	1657896	202245638	47004983	9	1543											
ASAP2	8853	broad.mit.edu	37	chr2	9484930	9484930	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaccatatcccatggtaccGtaagtattctcttttaatcc	10	15	5	11	1	1	1	0	1	1	0	4	1	3	1	4	1	1	3	4	1	5	7			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr2:9484930G>A	ENST00000281419.3	+	11	1363		c.e11+1		ASAP2_ENST00000315273.4_Splice_Site	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2						regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						CCATGGTACCGTAAGTATTCT	0.423													4	117					0	0	0.150653	0	0	A	9484930	G	A	9484930	5	1	27	1	0	0	0	0	0	0	1	0	1010	1159	40	1	1066	1	ASAP2	2	9484930	Splice_Site	SNP	G	TCGA-CH-5788-01A-11D-1576-08		9484930	233714443	10	1544											
ALK	238	broad.mit.edu	37	chr2	29450529	29450529	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggggtcattgtttgaggctGcattgccgcctgagtagcaa	7	11	14	9	2	1	2	1	2	0	0	1	2	1	2	2	3	3	5	2	3	2	4			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr2:29450529G>A	ENST00000389048.3	-	17	3731	c.2825C>T	c.(2824-2826)gCa>gTa	p.A942V	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	942					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GTTTGAGGCTGCATTGCCGCC	0.527			"T, Mis, A"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	"ALCL, NSCLC, Neuroblastoma"	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				4	179					0	0	0.184627	0	0	A	29450529	G	A	29450529	3	1	27	1	0	0	0	0	1	0	0	0	521	1319	46	2	2089	2	ALK	2	29450529	Missense_Mutation	SNP	G	TCGA-CH-5788-01A-11D-1576-08	19965599	29450529	213748844	11	1545											
STAMBP	10617	broad.mit.edu	37	chr2	74072296	74072296	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctgttttgtgtctcagaaAttaaaggagattgcatttcc	10	17	8	6	0	2	2	1	0	2	2	4	3	3	2	1	1	1	2	1	1	3	6			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr2:74072296A>G	ENST00000394070.2	+	4	785	c.282A>G	c.(280-282)aaA>aaG	p.K94K	STAMBP_ENST00000394073.1_Silent_p.K94K|STAMBP_ENST00000409707.1_Silent_p.K94K|STAMBP_ENST00000339566.3_Silent_p.K94K|STAMBP_ENST00000536064.1_Silent_p.K94K	NM_213622.2	NP_998787.1	O95630	STABP_HUMAN	STAM binding protein	94	Interaction with CHMP3.				JAK-STAT cascade|positive regulation of cell proliferation	early endosome|membrane|nucleus	metal ion binding|metallopeptidase activity|protein binding	p.K94K(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	18						TGTCTCAGAAATTAAAGGAGA	0.343													41	53					0	0	0.840704	0	0	G	74072296	A	G	74072296	2	3	27	1	0	0	0	0	0	0	0	1	15306	98	4	3		3	STAMBP	2	74072296	Silent	SNP	A	TCGA-CH-5788-01A-11D-1576-08	44621767	74072296	169127077	12	1546											
LRRTM4	80059	broad.mit.edu	37	chr2	77746838	77746838	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatgttctcagggatatctgCgaaagcatgagactcacagt	13	10	10	8	1	3	1	2	1	2	1	4	4	3	2	0	1	2	2	0	1	3	2	rs141419994	by1000genomes	TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr2:77746838C>T	ENST00000409088.3	-	3	571	c.157G>A	c.(157-159)Gca>Aca	p.A53T	LRRTM4_ENST00000409093.1_Missense_Mutation_p.A53T|LRRTM4_ENST00000409282.1_Missense_Mutation_p.A54T|LRRTM4_ENST00000409911.1_Missense_Mutation_p.A54T|LRRTM4_ENST00000409884.1_Missense_Mutation_p.A53T	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	53	LRRNT.					integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GGGATATCTGCGAAAGCATGA	0.463													4	177					0	0	0.184627	0	0	T	77746838	C	T	77746838	3	4	27	1	0	0	0	0	1	0	0	0	9087	768	27	1	1629	1	LRRTM4	2	77746838	Missense_Mutation	SNP	C	TCGA-CH-5788-01A-11D-1576-08	3674542	77746838	165452535	13	1547											
HJURP	55355	broad.mit.edu	37	chr2	234756069	234756069	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggcccaagcaactgactcttCctggtctgacgtggcatcga	8	9	11	13	2	2	2	0	2	2	0	4	3	3	2	2	3	2	2	2	3	2	1			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr2:234756069C>G	ENST00000411486.2	-	5	441	c.376G>C	c.(376-378)Gaa>Caa	p.E126Q	HJURP_ENST00000441687.1_Intron|HJURP_ENST00000432087.1_Intron	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	126					cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding	p.E126Q(1)		NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		ACTGACTCTTCCTGGTCTGAC	0.488													7	128					0	0	0.307466	0	0	G	234756069	C	G	234756069	3	3	27	1	0	0	0	0	1	0	0	0	7230	864	30	4	1890	4	HJURP	2	234756069	Missense_Mutation	SNP	C	TCGA-CH-5788-01A-11D-1576-08	157009231	234756069	8443304	14	1548											
SUMF1	285362	broad.mit.edu	37	chr3	4458835	4458835	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgcagttccttggaagccatCctcaccagtgttggtcaccg	7	10	10	14	2	2	0	2	0	0	0	4	1	4	1	5	2	1	3	5	2	1	3			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr3:4458835C>T	ENST00000272902.5	-	6	852	c.817G>A	c.(817-819)Gat>Aat	p.D273N	SUMF1_ENST00000383843.5_Missense_Mutation_p.D248N|SUMF1_ENST00000458465.2_Intron|SUMF1_ENST00000405420.2_Missense_Mutation_p.D273N|SUMF1_ENST00000534863.1_Missense_Mutation_p.D273N	NM_182760.3	NP_877437.2	Q8NBK3	SUMF1_HUMAN	sulfatase modifying factor 1	273						endoplasmic reticulum lumen	metal ion binding|oxidoreductase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(3)	13		Melanoma(143;0.068)|Colorectal(144;0.233)		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)		TGGAAGCCATCCTCACCAGTG	0.552													7	403					0	0	0.248553	0	0	T	4458835	C	T	4458835	3	4	27	1	0	0	0	0	1	0	0	0	15441	855	30	2	323	2	SUMF1	3	4458835	Missense_Mutation	SNP	C	TCGA-CH-5788-01A-11D-1576-08		4458835	193563595	15	1549											
MAP4	4134	broad.mit.edu	37	chr3	47963256	47963256	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatttgaagaagccataccGtaactgtctttcaagggatc	12	11	8	10	1	2	2	1	1	1	1	3	3	2	3	3	1	3	1	3	1	5	4			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr3:47963256G>A	ENST00000426837.2	-	6	666	c.580_splice	c.e6+1	p.Y193_splice	MAP4_ENST00000383737.4_Splice_Site_p.Y176_splice|MAP4_ENST00000360240.6_Splice_Site_p.Y176_splice|MAP4_ENST00000395734.3_Splice_Site_p.Y176_splice			P27816	MAP4_HUMAN	microtubule-associated protein 4	176					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		AAGCCATACCGTAACTGTCTT	0.393													4	165					0	0	0.150653	0	0	A	47963256	G	A	47963256	5	1	27	1	0	0	0	0	0	0	1	0	9308	1159	40	1	4349	1	MAP4	3	47963256	Splice_Site	SNP	G	TCGA-CH-5788-01A-11D-1576-08	43504421	47963256	150059174	16	1550											
MAPKAPK3	7867	broad.mit.edu	37	chr3	50655021	50655042	+	Frame_Shift_Del	DEL	CAGGGGGGCCCTGTGCCCCCGC	CAGGGGGGCCCTGTGCCCCCGC	-																															atggtgaaacagcagaggagCaggggggccctgtgcccccg																								rs149349769	byFrequency	TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr3:50655021_50655042delCAGGGGGGCCCTGTGCCCCCGC	ENST00000446044.1	+	4	621_642	c.25_46delCAGGGGGGCCCTGTGCCCCCGC	c.(25-48)cafs	p.QGGPVPPP9fs	MAPKAPK3_ENST00000357955.2_Frame_Shift_Del_p.QGGPVPPP9fs	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated protein kinase 3	9					activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity			central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		AGCAGAGGAGCAGGGGGGCCCTGTGCCCCCGCCAGTTGCACC	0.698													9	68	---	---	---	---						-	50655042	CAGGGGGGCCCTGTGCCCCCGC	-	50655021	7	5	27	1	0	1	0	1	0	0	0	0	9340	711	25	0	27	0	MAPKAPK3	3	50655021	Frame_Shift_Del	DEL	CAGGGGGGCCCTGTGCCCCCGC	TCGA-CH-5788-01A-11D-1576-08	2691765	50655021	147367409	17	1551											
POPDC2	64091	broad.mit.edu	37	chr3	119379078	119379078	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgaaccagccccacagcaCgcagcacaggtaacctgcac	13	3	8	17	1	0	1	0	1	0	0	0	1	0	1	4	1	6	5	4	1	2	1			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr3:119379078C>G	ENST00000493094.1	-	1	652	c.193G>C	c.(193-195)Gtg>Ctg	p.V65L	POPDC2_ENST00000264231.3_Missense_Mutation_p.V65L|POPDC2_ENST00000474523.1_Intron|POPDC2_ENST00000468801.1_Missense_Mutation_p.V65L|POPDC2_ENST00000538678.1_Missense_Mutation_p.V65L			Q9HBU9	POPD2_HUMAN	popeye domain containing 2	65						integral to membrane				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.242)		CCCCACAGCACGCAGCACAGG	0.577													3	127					0	0	0.115264	0	0	G	119379078	C	G	119379078	3	3	27	1	0	0	0	0	1	0	0	0	12303	536	19	4	917	4	POPDC2	3	119379078	Missense_Mutation	SNP	C	TCGA-CH-5788-01A-11D-1576-08	68724057	119379078	78643352	18	1552											
MSL2	55167	broad.mit.edu	37	chr3	135870947	135870947	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagtctccaggttttataTcttcactgaaactgcagata	12	13	8	8	0	3	3	1	1	2	2	4	4	3	3	1	1	2	2	1	1	4	5			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr3:135870947T>A	ENST00000309993.2	-	2	1508	c.776A>T	c.(775-777)gAt>gTt	p.D259V	MSL2_ENST00000434835.2_Missense_Mutation_p.D185V	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	259					histone H4-K16 acetylation	MSL complex	zinc ion binding	p.D259V(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						AGGTTTTATATCTTCACTGAA	0.448													57	156					0	0	0.870114	0	0	A	135870947	T	A	135870947	3	1	27	1	0	0	0	0	1	0	0	0	9927	1435	50	5	961	5	MSL2	3	135870947	Missense_Mutation	SNP	T	TCGA-CH-5788-01A-11D-1576-08	16491869	135870947	62151483	19	1553											
SLC9A9	285195	broad.mit.edu	37	chr3	143100949	143100949	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagattttcatccaggtccaCgccaactctgttaaacaaaa	14	10	5	12	1	2	1	1	0	1	1	4	1	4	1	3	1	2	1	3	1	5	3			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr3:143100949C>T	ENST00000316549.6	-	13	1685	c.1477G>A	c.(1477-1479)Gtg>Atg	p.V493M	SLC9A9-AS2_ENST00000490153.1_RNA	NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	493					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						TCCAGGTCCACGCCAACTCTG	0.438													6	573					0	0	0.248553	0	0	T	143100949	C	T	143100949	3	4	27	1	0	0	0	0	1	0	0	0	14776	536	19	1	476	1	SLC9A9	3	143100949	Missense_Mutation	SNP	C	TCGA-CH-5788-01A-11D-1576-08	7230002	143100949	54921481	20	1554											
POLN	353497	broad.mit.edu	37	chr4	2097644	2097644	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtctgcgtgtgtcacctgttCcacgggcacatccttcctgc	4	12	10	15	2	2	0	1	0	1	0	5	0	5	0	4	1	2	2	4	1	0	2			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr4:2097644C>G	ENST00000511885.2	-	20	2352	c.1999G>C	c.(1999-2001)Gaa>Caa	p.E667Q	POLN_ENST00000382865.1_Missense_Mutation_p.E667Q			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	667					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			GTCACCTGTTCCACGGGCACA	0.602								DNA polymerases (catalytic subunits)					3	119					0	0	0.115264	0	0	G	2097644	C	G	2097644	3	3	27	1	0	0	0	0	1	0	0	0	12255	864	30	4	731	4	POLN	4	2097644	Missense_Mutation	SNP	C	TCGA-CH-5788-01A-11D-1576-08		2097644	189056632	21	1555											
PPP2R2C	5522	broad.mit.edu	37	chr4	6377648	6377648	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcggtaatcttccataatttGatagttttatctttaaaaac	13	18	4	6	1	2	1	0	1	2	0	4	1	3	1	1	1	1	2	1	1	7	9			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr4:6377648G>C	ENST00000335585.5	-	4	368	c.345C>G	c.(343-345)atC>atG	p.I115M	PPP2R2C_ENST00000506140.1_Missense_Mutation_p.I108M|PPP2R2C_ENST00000515571.1_Missense_Mutation_p.I98M|PPP2R2C_ENST00000382599.4_Missense_Mutation_p.I115M|PPP2R2C_ENST00000314348.8_5'UTR|PPP2R2C_ENST00000507294.1_Missense_Mutation_p.I108M	NM_181876.2	NP_870991.1	Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	115					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity	p.I115M(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						TCCATAATTTGATAGTTTTAT	0.413													10	234					0	0	0.335167	0	0	C	6377648	G	C	6377648	3	2	27	1	0	0	0	0	1	0	0	0	12435	1280	45	4	1022	4	PPP2R2C	4	6377648	Missense_Mutation	SNP	G	TCGA-CH-5788-01A-11D-1576-08	4280004	6377648	184776628	22	1556											
TMEM165	55858	broad.mit.edu	37	chr4	56262481	56262481	+	Frame_Shift_Del	DEL	G	G	-																															agatgaagaccttagccaccGgaacaaagaaccgccggcgc																										TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr4:56262481delG	ENST00000381334.5	+	1	358	c.125delG	c.(124-126)cgfs	p.R42fs	TMEM165_ENST00000506198.1_Frame_Shift_Del_p.R42fs|TMEM165_ENST00000542052.1_5'UTR	NM_018475.3	NP_060945.2	Q9HC07	TM165_HUMAN	transmembrane protein 165	42						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)	4	Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103)			CTTAGCCACCGGAACAAAGAA	0.741													3	5	---	---	---	---						-	56262481	G	-	56262481	7	5	27	1	0	1	0	1	0	0	0	0	16140	1116	39	0	127	0	TMEM165	4	56262481	Frame_Shift_Del	DEL	G	TCGA-CH-5788-01A-11D-1576-08	49884833	56262481	134891795	23	1557											
MFSD8	256471	broad.mit.edu	37	chr4	128843022	128843022	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtatggctataccttcccaCtgtattttgggaaattgatt	9	17	8	7	0	0	1	0	1	0	0	1	2	1	2	2	2	1	3	2	2	5	9			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr4:128843022C>G	ENST00000296468.3	-	11	1222	c.1095G>C	c.(1093-1095)caG>caC	p.Q365H	MFSD8_ENST00000515130.1_Intron|MFSD8_ENST00000513559.1_Missense_Mutation_p.Q320H	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	365					cell death|transmembrane transport	integral to membrane|lysosomal membrane		p.Q365H(1)		cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						TACCTTCCCACTGTATTTTGG	0.373													30	60					0	0	0.740014	0	0	G	128843022	C	G	128843022	3	3	27	1	0	0	0	0	1	0	0	0	9588	564	20	4	473	4	MFSD8	4	128843022	Missense_Mutation	SNP	C	TCGA-CH-5788-01A-11D-1576-08	72580541	128843022	62311254	24	1558											
CHD1	1105	broad.mit.edu	37	chr5	98192174	98192174	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggagccataaggagatctCtgatctagtggtgacctagg	10	10	13	8	0	2	3	0	2	2	1	3	5	2	4	2	4	1	0	2	4	3	3			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr5:98192174C>T	ENST00000284049.3	-	35	5192	c.5043G>A	c.(5041-5043)caG>caA	p.Q1681Q		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1681					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	p.Q1681Q(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	AAGGAGATCTCTGATCTAGTG	0.443													53	21					0	0	0.870114	0	0	T	98192174	C	T	98192174	2	4	27	1	0	0	0	0	0	0	0	1	3345	912	32	2		2	CHD1	5	98192174	Silent	SNP	C	TCGA-CH-5788-01A-11D-1576-08		98192174	82723086	25	1559											
CHD1	1105	broad.mit.edu	37	chr5	98192340	98192340	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacgatgatcagaatgagatCtatcttttaaacttccttcc	13	14	5	9	1	3	3	1	2	2	2	5	5	5	3	2	0	2	0	2	0	5	5			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr5:98192340C>G	ENST00000284049.3	-	35	5026	c.4877G>C	c.(4876-4878)aGa>aCa	p.R1626T		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1626					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	p.R1626T(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	AGAATGAGATCTATCTTTTAA	0.383													71	18					0	0	0.870114	0	0	G	98192340	C	G	98192340	3	3	27	1	0	0	0	0	1	0	0	0	3345	913	32	4	259	4	CHD1	5	98192340	Missense_Mutation	SNP	C	TCGA-CH-5788-01A-11D-1576-08	166	98192340	82722920	26	1560											
PCDHB7	0	broad.mit.edu	37	chr5	140553130	140553130	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttctagacgtaaatgacaaCgcccctgattttgtgcggtc	9	12	10	10	3	1	3	0	2	1	1	2	3	1	3	2	1	2	2	2	1	4	5			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr5:140553130C>T	ENST00000231137.3	+	1	888	c.714C>T	c.(712-714)aaC>aaT	p.N238N		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		238	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.N238N(3)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TAAATGACAACGCCCCTGATT	0.542													8	131					0	0	0.307466	0	0	T	140553130	C	T	140553130	2	4	27	1	0	0	0	0	0	0	0	1	11594	535	19	1		1	PCDHB7	5	140553130	Silent	SNP	C	TCGA-CH-5788-01A-11D-1576-08	42360790	140553130	40362130	27	1561											
CCNG1	900	broad.mit.edu	37	chr5	162868107	162868107	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcccaagcaccttgggtgTgttggactgagctgctttta	7	12	12	10	0	0	1	0	1	0	0	0	2	0	2	2	2	4	4	2	2	2	4			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr5:162868107T>A	ENST00000340828.2	+	3	512	c.288T>A	c.(286-288)tgT>tgA	p.C96*	CCNG1_ENST00000512163.1_5'UTR|CCNG1_ENST00000510664.1_Intron|CCNG1_ENST00000511683.2_5'UTR|CCNG1_ENST00000393929.1_Nonsense_Mutation_p.C96*|AC112205.1_ENST00000599797.1_Intron	NM_004060.3	NP_004051.1	P51959	CCNG1_HUMAN	cyclin G1	96					cell division|mitosis|regulation of cyclin-dependent protein kinase activity	nucleus		p.C96*(1)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0597)|OV - Ovarian serous cystadenocarcinoma(192;0.107)|Epithelial(171;0.164)		ACCTTGGGTGTGTTGGACTGA	0.368													60	82					0	0	0.870114	0	0	A	162868107	T	A	162868107	4	1	27	1	0	0	0	0	0	1	0	0	2945	1702	59	5	294	5	CCNG1	5	162868107	Nonsense_Mutation	SNP	T	TCGA-CH-5788-01A-11D-1576-08	22314977	162868107	18047153	28	1562											
CTGF	1490	broad.mit.edu	37	chr6	132271204	132271204	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtggagatgcccatcccaCaggtcttggaacaggcgctc	8	7	14	12	1	1	1	0	0	1	1	3	3	2	2	2	5	2	1	2	5	1	1			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr6:132271204C>A	ENST00000367976.3	-	4	838	c.638G>T	c.(637-639)tGt>tTt	p.C213F		NM_001901.2	NP_001892.1	P29279	CTGF_HUMAN	connective tissue growth factor	213	TSP type-1.				cellular lipid metabolic process|DNA replication|epidermis development|regulation of cell growth|response to wounding	plasma membrane|proteinaceous extracellular matrix	heparin binding|insulin-like growth factor binding	p.C213F(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		GCCCATCCCACAGGTCTTGGA	0.587											OREG0017666	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	77					0.00909568	0.00956213	0.150653	1	0	A	132271204	C	A	132271204	3	1	27	1	0	0	0	0	1	0	0	0	4032	478	17	4	419	4	CTGF	6	132271204	Missense_Mutation	SNP	C	TCGA-CH-5788-01A-11D-1576-08		132271204	38843863	29	1563											
ABCB5	340273	broad.mit.edu	37	chr7	20778650	20778650	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctatggccatcggagaaaCgctcgttttggctcctgaat	9	11	11	10	3	0	2	0	1	0	1	3	3	1	2	2	3	2	4	2	3	3	3			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr7:20778650C>T	ENST00000404938.2	+	24	3564	c.2912C>T	c.(2911-2913)aCg>aTg	p.T971M	ABCB5_ENST00000258738.6_Missense_Mutation_p.T526M	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	526					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	p.T526M(1)|p.T971M(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						ATCGGAGAAACGCTCGTTTTG	0.418													27	111					0	0	0.740014	0	0	T	20778650	C	T	20778650	3	4	27	1	0	0	0	0	1	0	0	0	44	536	19	1	3043	1	ABCB5	7	20778650	Missense_Mutation	SNP	C	TCGA-CH-5788-01A-11D-1576-08		20778650	138360013	30	1564											
CPVL	54504	broad.mit.edu	37	chr7	29070308	29070308	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggatcctttccagtccatgCccatcaaggagcgctctgtc	7	10	10	14	1	2	0	1	0	1	0	6	2	5	2	4	2	2	1	4	2	1	1			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr7:29070308C>T	ENST00000409850.1	-	16	1851	c.1205G>A	c.(1204-1206)gGc>gAc	p.G402D	CPVL_ENST00000396276.3_Missense_Mutation_p.G402D|CPVL_ENST00000265394.5_Missense_Mutation_p.G402D			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	402					proteolysis		protein binding|serine-type carboxypeptidase activity	p.G402D(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						CCAGTCCATGCCCATCAAGGA	0.473													7	647					0	0	0.248553	0	0	T	29070308	C	T	29070308	3	4	27	1	0	0	0	0	1	0	0	0	3858	739	26	2	233	2	CPVL	7	29070308	Missense_Mutation	SNP	C	TCGA-CH-5788-01A-11D-1576-08	8291658	29070308	130068355	31	1565											
CDK13	8621	broad.mit.edu	37	chr7	40039015	40039015	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagatattgactggggaaaaCgctgcgtggataaatttgat	14	11	12	4	2	0	3	0	2	0	1	0	5	0	5	0	3	2	1	0	3	6	4			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr7:40039015C>G	ENST00000181839.4	+	4	2703	c.2098C>G	c.(2098-2100)Cgc>Ggc	p.R700G	CDK13_ENST00000340829.5_Missense_Mutation_p.R700G|CDK13_ENST00000484589.1_3'UTR	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	700			R -> L (in dbSNP:rs1057000).		alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	p.R700G(1)|p.L700V(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						CTGGGGAAAACGCTGCGTGGA	0.358													68	174					0	0	0.870114	0	0	G	40039015	C	G	40039015	3	3	27	1	0	0	0	0	1	0	0	0	3151	536	19	4	2112	4	CDK13	7	40039015	Missense_Mutation	SNP	C	TCGA-CH-5788-01A-11D-1576-08	10968707	40039015	119099648	32	1566											
ZNF713	349075	broad.mit.edu	37	chr7	56007656	56007656	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaattatgtgaatataaatGtgagcaaactgttcgccaca	16	11	8	6	1	0	2	0	2	0	0	1	3	0	2	1	0	2	2	1	0	7	4			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr7:56007656G>T	ENST00000429591.2	+	4	1288	c.1250G>T	c.(1249-1251)tGt>tTt	p.C417F	MRPS17_ENST00000426595.1_Intron	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	417					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C417F(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GAATATAAATGTGAGCAAACT	0.388													105	86					1.09637e-55	1.34182e-55	0.870114	1	0	T	56007656	G	T	56007656	3	4	27	1	0	0	0	0	1	0	0	0	18173	1377	48	4	1264	4	ZNF713	7	56007656	Missense_Mutation	SNP	G	TCGA-CH-5788-01A-11D-1576-08	15968641	56007656	103131007	33	1567											
ZKSCAN1	7586	broad.mit.edu	37	chr7	99631796	99631796	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcccttgatgcatttggCgcgttcctgaaaagttgtgt	6	14	11	10	2	0	2	0	2	0	0	2	2	2	2	3	1	1	3	3	1	2	4	rs147984747	byFrequency	TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr7:99631796C>T	ENST00000324306.6	+	6	1902	c.1668C>T	c.(1666-1668)ggC>ggT	p.G556G	ZKSCAN1_ENST00000426572.1_Silent_p.G520G|ZKSCAN1_ENST00000535170.1_Silent_p.G343G	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	zinc finger with KRAB and SCAN domains 1	556					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			ATGCATTTGGCGCGTTCCTGA	0.498													5	349					0	0	0.217242	0	0	T	99631796	C	T	99631796	2	4	27	1	0	0	0	0	0	0	0	1	17744	755	27	1		1	ZKSCAN1	7	99631796	Silent	SNP	C	TCGA-CH-5788-01A-11D-1576-08	43624140	99631796	59506867	34	1568											
KCND2	3751	broad.mit.edu	37	chr7	120385960	120385960	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccagcacctgctgttcaCgacgacacaaaaaaactttt	14	9	5	13	2	2	0	2	0	0	0	2	2	2	0	2	0	3	3	2	0	3	3			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr7:120385960C>T	ENST00000331113.4	+	5	2559	c.1594C>T	c.(1594-1596)Cga>Tga	p.R532*		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	532					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					CTGCTGTTCACGACGACACAA	0.443													4	141					0	0	0.184627	0	0	T	120385960	C	T	120385960	4	4	27	1	0	0	0	0	0	1	0	0	8063	528	19	1	1612	1	KCND2	7	120385960	Nonsense_Mutation	SNP	C	TCGA-CH-5788-01A-11D-1576-08	20754164	120385960	38752703	35	1569											
ENTPD4	9583	broad.mit.edu	37	chr8	23290499	23290499	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatccagagggcggcggcCgagctgctccggggagtgcg	5	5	18	13	5	0	1	0	0	0	1	3	3	3	2	4	5	3	2	4	5	0	0			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr8:23290499C>T	ENST00000358689.4	-	13	2026	c.1791G>A	c.(1789-1791)tcG>tcA	p.S597S	ENTPD4_ENST00000417069.2_Silent_p.S589S|ENTPD4_ENST00000356206.6_Intron|ENTPD4_ENST00000521321.1_Intron	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	597					UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity	p.S597S(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		GGGCGGCGGCCGAGCTGCTCC	0.647													4	4					0	0	0.150653	0	0	T	23290499	C	T	23290499	2	4	27	1	0	0	0	0	0	0	0	1	5169	639	23	1		1	ENTPD4	8	23290499	Silent	SNP	C	TCGA-CH-5788-01A-11D-1576-08		23290499	123073523	36	1570											
TRPA1	8989	broad.mit.edu	37	chr8	72963064	72963064	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtaattggacatttattGcctggagaattatgactgaa	12	15	9	5	0	1	3	0	2	1	1	1	5	1	4	1	2	1	1	1	2	5	6			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr8:72963064G>A	ENST00000262209.4	-	15	2061	c.1854C>T	c.(1852-1854)ggC>ggT	p.G618G	RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	618						integral to plasma membrane		p.G618G(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GACATTTATTGCCTGGAGAAT	0.338													56	108					0	0	0.870114	0	0	A	72963064	G	A	72963064	2	1	27	1	0	0	0	0	0	0	0	1	16638	1306	46	2		2	TRPA1	8	72963064	Silent	SNP	G	TCGA-CH-5788-01A-11D-1576-08	49672565	72963064	73400958	37	1571											
SARDH	1757	broad.mit.edu	37	chr9	136573417	136573417	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggggcgttacctcgtgcaGcgggtctctcctcatgttgc	4	12	13	12	3	2	0	1	0	1	0	5	0	3	0	2	3	4	3	2	3	2	3			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr9:136573417G>T	ENST00000371872.4	-	11	1719	c.1462C>A	c.(1462-1464)Ctg>Atg	p.L488M	SARDH_ENST00000439388.1_Missense_Mutation_p.L488M|SARDH_ENST00000422262.2_Missense_Mutation_p.L320M	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	488					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	p.L488M(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		ACCTCGTGCAGCGGGTCTCTC	0.632													12	76					3.07112e-06	3.49766e-06	0.38729	1	0	T	136573417	G	T	136573417	3	4	27	1	0	0	0	0	1	0	0	0	13894	962	34	4	1338	4	SARDH	9	136573417	Missense_Mutation	SNP	G	TCGA-CH-5788-01A-11D-1576-08		136573417	4640014	38	1572											
DMBT1	1755	broad.mit.edu	37	chr10	124376760	124376760	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagacacttggccaacctcTcgtgcatcaacagcaggtaa	13	7	8	13	1	2	1	1	0	1	1	3	1	2	1	2	2	4	3	2	2	3	2			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr10:124376760T>G	ENST00000368909.3	+	37	4594	c.4488T>G	c.(4486-4488)tcT>tcG	p.S1496S	DMBT1_ENST00000368956.2_Silent_p.S868S|DMBT1_ENST00000330163.4_Silent_p.S868S|DMBT1_ENST00000368955.3_Silent_p.S1486S|DMBT1_ENST00000338354.3_Silent_p.S1496S|DMBT1_ENST00000344338.3_Silent_p.S1486S|DMBT1_ENST00000359586.6_Silent_p.S347S	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1496					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGCCAACCTCTCGTGCATCAA	0.448													11	734					0	0	0.479597	0	0	G	124376760	T	G	124376760	2	3	27	1	0	0	0	0	0	0	0	1	4605	1538	54	5		5	DMBT1	10	124376760	Silent	SNP	T	TCGA-CH-5788-01A-11D-1576-08		124376760	11157987	39	1573											
HIPK3	10114	broad.mit.edu	37	chr11	33373268	33373268	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttttgtggaggacactcaTgaaaacacagaattggtatc	14	11	9	7	0	1	2	1	1	0	1	2	4	1	4	0	3	1	1	0	3	4	4			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr11:33373268T>C	ENST00000303296.4	+	15	3227	c.2922T>C	c.(2920-2922)caT>caC	p.H974H	HIPK3_ENST00000379016.3_Silent_p.H953H|HIPK3_ENST00000525975.1_Silent_p.H953H|HIPK3_ENST00000456517.1_Silent_p.H953H	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	974	Required for localization to nuclear speckles (By similarity).				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity	p.H974H(1)		endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						AGGACACTCATGAAAACACAG	0.483													40	139					0	0	0.834066	0	0	C	33373268	T	C	33373268	2	2	27	1	0	0	0	0	0	0	0	1	7159	1461	51	3		3	HIPK3	11	33373268	Silent	SNP	T	TCGA-CH-5788-01A-11D-1576-08		33373268	101633248	40	1574											
ADCY6	112	broad.mit.edu	37	chr12	49176734	49176734	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agccagcagcaccgctgtgaGcagcaccagcaccgccatca	11	3	10	17	2	1	1	1	1	0	0	1	1	1	1	5	0	6	6	5	0	0	0			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr12:49176734G>A	ENST00000307885.4	-	1	1178	c.484C>T	c.(484-486)Ctc>Ttc	p.L162F	ADCY6_ENST00000357869.3_Missense_Mutation_p.L162F|ADCY6_ENST00000550422.1_Missense_Mutation_p.L162F	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	162					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding	p.L162F(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						ACCGCTGTGAGCAGCACCAGC	0.652													18	24					0	0	0.539581	0	0	A	49176734	G	A	49176734	3	1	27	1	0	0	0	0	1	0	0	0	297	971	34	2	3106	2	ADCY6	12	49176734	Missense_Mutation	SNP	G	TCGA-CH-5788-01A-11D-1576-08		49176734	84675161	41	1575											
SP1	0	broad.mit.edu	37	chr12	53804756	53804756	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcctaagcgcttcatgaGgagtgaccacctgtcaaaac	11	9	10	11	1	2	2	2	2	0	0	3	3	3	3	3	1	2	1	3	1	3	2			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr12:53804756G>A	ENST00000426431.2	+	6	2129	c.2069G>A	c.(2068-2070)aGg>aAg	p.R690K	SP1_ENST00000327443.4_Missense_Mutation_p.R697K	NM_003109.1	NP_003100.1	P08047	SP1_HUMAN	Sp1 transcription factor	697	VZV IE62-binding.				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	p.R697K(1)		breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		CGCTTCATGAGGAGTGACCAC	0.493													143	195					0	0	0.870114	0	0	A	53804756	G	A	53804756	3	1	27	1	0	0	0	0	1	0	0	0	15013	1000	35	2	2112	2	SP1	12	53804756	Missense_Mutation	SNP	G	TCGA-CH-5788-01A-11D-1576-08	4628022	53804756	80047139	42	1576											
NCKAP1L	3071	broad.mit.edu	37	chr12	54903701	54903701	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagggggctgagcagtggCgcagtgcccaacttctaagc	9	6	14	12	1	1	1	0	1	1	0	1	1	1	1	2	3	4	3	2	3	2	2			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr12:54903701C>T	ENST00000293373.6	+	7	746	c.667C>T	c.(667-669)Cgc>Tgc	p.R223C	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R173C|NCKAP1L_ENST00000552211.1_3'UTR	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	223					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	p.R223C(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TGAGCAGTGGCGCAGTGCCCA	0.517													10	266					0	0	0.335167	0	0	T	54903701	C	T	54903701	3	4	27	1	0	0	0	0	1	0	0	0	10269	768	27	1	693	1	NCKAP1L	12	54903701	Missense_Mutation	SNP	C	TCGA-CH-5788-01A-11D-1576-08	1098945	54903701	78948194	43	1577											
LRIG3	121227	broad.mit.edu	37	chr12	59283855	59283855	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctgttcagctttaacacaagGagtgtgttggccaaattgtc	10	13	10	8	0	1	0	1	0	0	0	2	1	1	1	1	2	2	3	1	2	3	5			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr12:59283855G>A	ENST00000320743.3	-	5	868	c.582C>T	c.(580-582)ctC>ctT	p.L194L	LRIG3_ENST00000379141.4_Silent_p.L134L	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	194						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TTAACACAAGGAGTGTGTTGG	0.423			T	ROS1	NSCLC								6	412					0	0	0.307466	0	0	A	59283855	G	A	59283855	2	1	27	1	0	0	0	0	0	0	0	1	8991	1161	41	2		2	LRIG3	12	59283855	Silent	SNP	G	TCGA-CH-5788-01A-11D-1576-08	4380154	59283855	74568040	44	1578											
TPPP2	122664	broad.mit.edu	37	chr14	21498804	21498804	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggagaatcatcaagcagtGgcactgaaatgaacaacaag	17	7	10	7	0	2	3	2	2	0	1	2	4	2	3	0	2	3	2	0	2	6	1			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr14:21498804G>A	ENST00000321760.6	+	2	212	c.64G>A	c.(64-66)Ggc>Agc	p.G22S	NDRG2_ENST00000403829.3_Intron|TPPP2_ENST00000460647.2_Missense_Mutation_p.G22S|TPPP2_ENST00000530140.2_Missense_Mutation_p.G22S	NM_173846.4	NP_776245.2	P59282	TPPP2_HUMAN	tubulin polymerization-promoting protein family member 2	22						cytoplasm		p.G22S(1)		endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		ATCAAGCAGTGGCACTGAAAT	0.517													28	36					0	0	0.693898	0	0	A	21498804	G	A	21498804	3	1	27	1	0	0	0	0	1	0	0	0	16475	1348	47	2	66	2	TPPP2	14	21498804	Missense_Mutation	SNP	G	TCGA-CH-5788-01A-11D-1576-08		21498804	85850736	45	1579											
SPG11	80208	broad.mit.edu	37	chr15	44944401	44944401	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatcatcttcatctacgccCttaggtccttgaataggaag	10	12	9	10	1	4	1	2	1	2	0	5	3	5	3	2	3	1	0	2	3	5	5			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr15:44944401C>A	ENST00000261866.7	-	5	949	c.933G>T	c.(931-933)aaG>aaT	p.K311N	SPG11_ENST00000535302.2_Missense_Mutation_p.K311N|SPG11_ENST00000559193.1_Missense_Mutation_p.K311N|SPG11_ENST00000558319.1_Missense_Mutation_p.K311N|SPG11_ENST00000427534.2_Missense_Mutation_p.K311N	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	311					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CATCTACGCCCTTAGGTCCTT	0.373													4	181					0.00909568	0.00956213	0.150653	1	0	A	44944401	C	A	44944401	3	1	27	1	0	0	0	0	1	0	0	0	15097	680	24	4	6542	4	SPG11	15	44944401	Missense_Mutation	SNP	C	TCGA-CH-5788-01A-11D-1576-08		44944401	57586991	46	1580											
PRTG	283659	broad.mit.edu	37	chr15	55964737	55964737	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtagtacagcttgtagccCtgaatagcagctgtgtcctc	8	13	10	10	0	0	1	0	1	0	0	2	1	1	1	2	0	5	6	2	0	5	6			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr15:55964737C>T	ENST00000389286.4	-	11	1994	c.1947G>A	c.(1945-1947)caG>caA	p.Q649Q		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	649	Fibronectin type-III 3.				multicellular organismal development	integral to membrane		p.Q649Q(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		GCTTGTAGCCCTGAATAGCAG	0.498													45	79					0	0	0.859065	0	0	T	55964737	C	T	55964737	2	4	27	1	0	0	0	0	0	0	0	1	12687	680	24	2		2	PRTG	15	55964737	Silent	SNP	C	TCGA-CH-5788-01A-11D-1576-08	11020336	55964737	46566655	47	1581											
DPP8	54878	broad.mit.edu	37	chr15	65780073	65780073	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgccctccttgtttccaacaTaggggatgtaacatgaataa	12	12	8	9	0	0	1	0	1	0	0	2	2	2	2	3	2	3	2	3	2	5	5			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr15:65780073T>C	ENST00000341861.5	-	7	2538	c.958A>G	c.(958-960)Atg>Gtg	p.M320V	DPP8_ENST00000358939.4_Missense_Mutation_p.M304V|DPP8_ENST00000339244.5_Missense_Mutation_p.M320V|DPP8_ENST00000321118.7_Missense_Mutation_p.M320V|DPP8_ENST00000321147.6_Missense_Mutation_p.M320V|DPP8_ENST00000300141.6_Missense_Mutation_p.M304V|DPP8_ENST00000559233.1_Missense_Mutation_p.M320V	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	320					immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity	p.M304V(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GTTTCCAACATAGGGGATGTA	0.338													20	247					0	0	0.575678	0	0	C	65780073	T	C	65780073	3	2	27	1	0	0	0	0	1	0	0	0	4758	1406	49	3	1794	3	DPP8	15	65780073	Missense_Mutation	SNP	T	TCGA-CH-5788-01A-11D-1576-08	9815336	65780073	36751319	48	1582											
MYO9A	4649	broad.mit.edu	37	chr15	72193592	72193592	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctacacagcaagaccctGaaccatcgctgcaacaatat	14	7	6	14	1	0	2	0	1	0	1	1	2	0	2	3	0	6	3	3	0	6	2			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr15:72193592G>T	ENST00000356056.5	-	23	3562	c.3090C>A	c.(3088-3090)ttC>ttA	p.F1030L	MYO9A_ENST00000566885.1_Missense_Mutation_p.F650L|MYO9A_ENST00000424560.1_Missense_Mutation_p.F1030L|MYO9A_ENST00000564571.1_Missense_Mutation_p.F1030L|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.F1011L	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1030	IQ 1.|Neck or regulatory domain.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	p.F1030L(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GCAAGACCCTGAACCATCGCT	0.453													42	75					4.01765e-15	4.7746e-15	0.847076	1	0	T	72193592	G	T	72193592	3	4	27	1	0	0	0	0	1	0	0	0	10132	1281	45	4	4636	4	MYO9A	15	72193592	Missense_Mutation	SNP	G	TCGA-CH-5788-01A-11D-1576-08	6413519	72193592	30337800	49	1583											
SNX33	257364	broad.mit.edu	37	chr15	75941857	75941857	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctggtgggctgggcaccaaCgggcaccctcccctcaacct	6	6	12	17	1	1	0	1	0	0	0	2	0	2	0	5	4	2	4	5	4	2	0			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr15:75941857C>A	ENST00000308527.5	+	1	1611	c.414C>A	c.(412-414)aaC>aaA	p.N138K		NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	138					cell communication		phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						TGGGCACCAACGGGCACCCTC	0.642													4	121					0.150653	0.156374	0.150653	1	0	A	75941857	C	A	75941857	3	1	27	1	0	0	0	0	1	0	0	0	14957	535	19	4	416	4	SNX33	15	75941857	Missense_Mutation	SNP	C	TCGA-CH-5788-01A-11D-1576-08	3748265	75941857	26589535	50	1584											
FES	2242	broad.mit.edu	37	chr15	91428783	91428783	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcgcaagacctacagcgagCagtggcagcagctgcagcag	11	5	13	12	2	0	1	0	0	0	1	1	2	0	1	1	1	7	7	1	1	2	2			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr15:91428783C>A	ENST00000328850.3	+	3	497	c.355C>A	c.(355-357)Cag>Aag	p.Q119K	FES_ENST00000444422.2_Missense_Mutation_p.Q119K|FES_ENST00000394302.1_Intron|FES_ENST00000450438.2_Intron|FES_ENST00000414248.2_Intron|FES_ENST00000394300.3_Intron	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	feline sarcoma oncogene	119	Important for interaction with membranes containing phosphoinositides.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.Q119K(2)		lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CTACAGCGAGCAGTGGCAGCA	0.597													12	17					1.05317e-09	1.21634e-09	0.457914	1	0	A	91428783	C	A	91428783	3	1	27	1	0	0	0	0	1	0	0	0	5853	711	25	4	361	4	FES	15	91428783	Missense_Mutation	SNP	C	TCGA-CH-5788-01A-11D-1576-08	15486926	91428783	11102609	51	1585											
FAM174B	400451	broad.mit.edu	37	chr15	93162648	93162648	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accccaggttgcagctgaccAactttccacaggatgccacc	10	7	8	16	0	0	1	0	1	0	0	1	2	1	2	6	2	4	3	6	2	1	2			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr15:93162648A>G	ENST00000555748.1	-	3	447	c.94T>C	c.(94-96)Tgg>Cgg	p.W32R	FAM174B_ENST00000555064.1_Missense_Mutation_p.W32R|FAM174B_ENST00000327355.5_3'UTR|FAM174B_ENST00000553393.1_Intron|RP11-386M24.9_ENST00000607766.1_RNA|FAM174B_ENST00000555696.1_Missense_Mutation_p.W32R			Q3ZCQ3	F174B_HUMAN	family with sequence similarity 174, member B	0						integral to membrane				endometrium(2)|lung(1)	3						GCAGCTGACCAACTTTCCACA	0.527													19	28					0	0	0.575678	0	0	G	93162648	A	G	93162648	3	3	27	1	0	0	0	0	1	0	0	0	5526	145	5	3		3	FAM174B	15	93162648	Missense_Mutation	SNP	A	TCGA-CH-5788-01A-11D-1576-08	1733865	93162648	9368744	52	1586											
CREBBP	1387	broad.mit.edu	37	chr16	3778253	3778253	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagctgtcccatctgagcCgccatctggcccatggagct	7	8	10	16	1	2	1	0	1	2	0	3	2	3	2	5	2	3	2	5	2	1	0			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr16:3778253C>T	ENST00000262367.5	-	31	7604	c.6795G>A	c.(6793-6795)gcG>gcA	p.A2265A	CREBBP_ENST00000382070.3_Silent_p.A2227A	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	2265					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.A2265A(2)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CCATCTGAGCCGCCATCTGGC	0.672			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						29	29					0	0	0.750413	0	0	T	3778253	C	T	3778253	2	4	27	1	0	0	0	0	0	0	0	1	3884	639	23	1		1	CREBBP	16	3778253	Silent	SNP	C	TCGA-CH-5788-01A-11D-1576-08		3778253	86576500	53	1587											
ELMO3	79767	broad.mit.edu	37	chr16	67234423	67234423	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagcacggcgtggtgtcctgGgagactctgagcatcccctt	6	9	14	12	2	1	2	0	1	1	1	3	4	3	2	3	3	2	2	3	3	0	1			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr16:67234423G>A	ENST00000393997.2	+	6	699	c.642G>A	c.(640-642)tgG>tgA	p.W214*	ELMO3_ENST00000571638.1_3'UTR|ELMO3_ENST00000477898.1_Nonsense_Mutation_p.W48*|ELMO3_ENST00000360833.1_Nonsense_Mutation_p.W197*	NM_024712.3	NP_078988.2	Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	161					apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding	p.W214*(1)		cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		TGGTGTCCTGGGAGACTCTGA	0.652													3	68					0	0	0.115264	0	0	A	67234423	G	A	67234423	4	1	27	1	0	0	0	0	0	1	0	0	5095	1241	43	2	664	2	ELMO3	16	67234423	Nonsense_Mutation	SNP	G	TCGA-CH-5788-01A-11D-1576-08	63456170	67234423	23120330	54	1588											
SLC9A5	6553	broad.mit.edu	37	chr16	67305047	67305047	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atgggccacaaggaccacacCcatctcagcccaggcaccgc	11	3	9	18	1	1	0	1	0	1	0	2	1	1	1	5	3	1	1	5	3	1	0			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr16:67305047C>T	ENST00000299798.11	+	16	2690	c.2625C>T	c.(2623-2625)acC>acT	p.T875T		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	875					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	p.T875T(1)		breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		AGGACCACACCCATCTCAGCC	0.662													4	31					0	0	0.150653	0	0	T	67305047	C	T	67305047	2	4	27	1	0	0	0	0	0	0	0	1	14772	610	22	2		2	SLC9A5	16	67305047	Silent	SNP	C	TCGA-CH-5788-01A-11D-1576-08	70624	67305047	23049706	55	1589											
DDX19B	11269	broad.mit.edu	37	chr16	70359583	70359583	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctagcttatgctgttcgagGcaataaatgtgagtatgtga	11	13	12	5	1	0	2	0	2	0	0	1	3	0	2	0	1	2	6	0	1	6	5			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr16:70359583G>A	ENST00000288071.6	+	7	844	c.599G>A	c.(598-600)gGc>gAc	p.G200D	DDX19B_ENST00000393657.2_Missense_Mutation_p.G91D|DDX19B_ENST00000563392.1_Missense_Mutation_p.G91D|DDX19B_ENST00000568625.1_Missense_Mutation_p.G91D|DDX19B_ENST00000451014.3_Missense_Mutation_p.G174D|RP11-529K1.2_ENST00000562077.1_RNA|DDX19B_ENST00000355992.3_Missense_Mutation_p.G169D|DDX19B_ENST00000563206.1_Missense_Mutation_p.G205D|RP11-529K1.3_ENST00000567706.1_Missense_Mutation_p.G200D	NM_007242.5	NP_009173.1	Q9UMR2	DD19B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B	200	Helicase ATP-binding.				mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)	9		Ovarian(137;0.0694)				GCTGTTCGAGGCAATAAATGT	0.363													4	182					0	0	0.150653	0	0	A	70359583	G	A	70359583	3	1	27	1	0	0	0	0	1	0	0	0	4370	1203	42	2	625	2	DDX19B	16	70359583	Missense_Mutation	SNP	G	TCGA-CH-5788-01A-11D-1576-08	3054536	70359583	19995170	56	1590											
DHRS13	147015	broad.mit.edu	37	chr17	27229944	27229944	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcccagcagcaaccccgcgcCcagcagcagcgcctccatgc	8	2	10	21	3	0	0	0	0	0	0	1	0	1	0	6	0	7	4	6	0	1	0			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr17:27229944C>T	ENST00000378895.4	-	1	145	c.19G>A	c.(19-21)Ggc>Agc	p.G7S	DHRS13_ENST00000394901.3_5'UTR|DHRS13_ENST00000426464.2_Missense_Mutation_p.G7S	NM_144683.3	NP_653284.2	Q6UX07	DHR13_HUMAN	dehydrogenase/reductase (SDR family) member 13	7						extracellular region	binding|oxidoreductase activity	p.G7S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	9	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			AACCCCGCGCCCAGCAGCAGC	0.756													5	12					0	0	0.217242	0	0	T	27229944	C	T	27229944	3	4	27	1	0	0	0	0	1	0	0	0	4517	623	22	2	1134	2	DHRS13	17	27229944	Missense_Mutation	SNP	C	TCGA-CH-5788-01A-11D-1576-08		27229944	53965266	57	1591											
SPOP	8405	broad.mit.edu	37	chr17	47696432	47696432	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgaatttcttgaatccccAgtctttgccttgcacaaacc	10	13	6	12	0	2	2	0	2	2	0	3	3	3	2	4	0	3	1	4	0	3	4			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr17:47696432A>C	ENST00000393331.3	-	7	861	c.391T>G	c.(391-393)Tgg>Ggg	p.W131G	SPOP_ENST00000504102.1_Missense_Mutation_p.W131G|SPOP_ENST00000503676.1_Missense_Mutation_p.W131G|SPOP_ENST00000393328.2_Missense_Mutation_p.W131G|SPOP_ENST00000347630.2_Missense_Mutation_p.W131G	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	131	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.W131G(2)|p.W131R(1)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TTGAATCCCCAGTCTTTGCCT	0.458										Prostate(2;0.17)			139	222					0	0	0.870114	0	0	C	47696432	A	C	47696432	3	2	27	1	0	0	0	0	1	0	0	0	15140	188	7	5	757	5	SPOP	17	47696432	Missense_Mutation	SNP	A	TCGA-CH-5788-01A-11D-1576-08	20466488	47696432	33498778	58	1592											
CYP4F3	4051	broad.mit.edu	37	chr19	15756624	15756624	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggggccctggcacgcaatCgtccgcatcttccaccccac	6	7	10	18	3	1	0	0	0	1	0	4	0	3	0	5	3	0	3	5	3	1	1	rs116936513	by1000genomes	TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr19:15756624C>A	ENST00000221307.7	+	3	342	c.294C>A	c.(292-294)atC>atA	p.I98I	CYP4F3_ENST00000591058.1_Intron|CYP4F3_ENST00000585846.1_Intron|CYP4F3_ENST00000586182.1_Intron	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	98					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	p.I98I(1)		endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						GGCACGCAATCGTCCGCATCT	0.582													48	75					3.05275e-18	3.68125e-18	0.864702	1	0	A	15756624	C	A	15756624	2	1	27	1	0	0	0	0	0	0	0	1	4213	874	31	4		4	CYP4F3	19	15756624	Silent	SNP	C	TCGA-CH-5788-01A-11D-1576-08		15756624	43372359	59	1593											
OR10H3	26532	broad.mit.edu	37	chr19	15852413	15852413	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtgtgccctctccatctctGagattctgttcactgttgcc	4	16	8	13	0	4	1	1	1	3	1	6	2	4	1	3	0	2	2	3	0	0	3			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr19:15852413G>A	ENST00000305892.1	+	1	211	c.211G>A	c.(211-213)Gag>Aag	p.E71K		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E71K(1)		cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CTCCATCTCTGAGATTCTGTT	0.498													21	764					0	0	0.575678	0	0	A	15852413	G	A	15852413	3	1	27	1	0	0	0	0	1	0	0	0	10955	1291	45	2	213	2	OR10H3	19	15852413	Missense_Mutation	SNP	G	TCGA-CH-5788-01A-11D-1576-08	95789	15852413	43276570	60	1594											
FCGBP	8857	broad.mit.edu	37	chr19	40420067	40420067	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agtcataagtgacagtcaggCcaaagtccgtgcgcacgacg	12	6	12	11	4	2	1	2	1	0	0	3	2	3	1	2	1	1	1	2	1	2	1			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr19:40420067C>T	ENST00000221347.6	-	6	2934	c.2927G>A	c.(2926-2928)gGc>gAc	p.G976D		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	976	VWFD 2.					extracellular region	protein binding	p.G976D(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GACAGTCAGGCCAAAGTCCGT	0.592													37	60					0	0	0.819951	0	0	T	40420067	C	T	40420067	3	4	27	1	0	0	0	0	1	0	0	0	5811	739	26	2	13414	2	FCGBP	19	40420067	Missense_Mutation	SNP	C	TCGA-CH-5788-01A-11D-1576-08	24567654	40420067	18708916	61	1595											
ERCC2	2068	broad.mit.edu	37	chr19	45858059	45858059	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaaggccacgatgccatcagGgaccacagcggacatctcca	12	4	11	14	2	2	0	1	0	1	0	3	4	2	2	4	3	2	0	4	3	1	0			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr19:45858059G>A	ENST00000391945.4	-	17	1671	c.1594C>T	c.(1594-1596)Cct>Tct	p.P532S	ERCC2_ENST00000391944.3_Missense_Mutation_p.P454S	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	532	Mediates interaction with MMS19.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding	p.P532S(1)		large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		ATGCCATCAGGGACCACAGCG	0.627			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				67	145					0	0	0.870114	0	0	A	45858059	G	A	45858059	3	1	27	1	0	0	0	0	1	0	0	0	5241	1232	43	2	716	2	ERCC2	19	45858059	Missense_Mutation	SNP	G	TCGA-CH-5788-01A-11D-1576-08	5437992	45858059	13270924	62	1596											
ZFP28	140612	broad.mit.edu	37	chr19	57065114	57065114	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caagattcatatgctgaaggGgtaacagacagaacctcaaa	17	7	9	8	0	2	4	2	1	0	3	2	4	2	4	1	2	3	2	1	2	6	3			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr19:57065114G>A	ENST00000301318.3	+	8	1031	c.960G>A	c.(958-960)ggG>ggA	p.G320G	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	320					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G320G(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		ATGCTGAAGGGGTAACAGACA	0.403													6	152					0	0	0.217242	0	0	A	57065114	G	A	57065114	2	1	27	1	0	0	0	0	0	0	0	1	17700	1219	43	2		2	ZFP28	19	57065114	Silent	SNP	G	TCGA-CH-5788-01A-11D-1576-08	11207055	57065114	2063869	63	1597											
CRNKL1	51340	broad.mit.edu	37	chr20	20028414	20028414	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtccaaaggatatatcgcTcataaatggtgcgggcccga	11	9	11	10	4	1	0	1	0	0	0	4	2	2	1	2	3	1	1	2	3	5	3			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr20:20028414T>C	ENST00000377340.2	-	6	1131	c.1100A>G	c.(1099-1101)gAg>gGg	p.E367G	CRNKL1_ENST00000536226.1_Missense_Mutation_p.E206G|CRNKL1_ENST00000377327.4_Missense_Mutation_p.E355G	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	367					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						GATATATCGCTCATAAATGGT	0.517													3	103					0	0	0.150653	0	0	C	20028414	T	C	20028414	3	2	27	1	0	0	0	0	1	0	0	0	3914	1551	54	3	1486	3	CRNKL1	20	20028414	Missense_Mutation	SNP	T	TCGA-CH-5788-01A-11D-1576-08		20028414	42997106	64	1598											
CACNG2	10369	broad.mit.edu	37	chr22	36960764	36960764	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgcagctgtttgtgccggtcGataaacatgtgcaccgccag	8	9	12	12	4	0	0	0	0	0	0	1	1	0	0	3	1	4	4	3	1	2	2			TCGA-CH-5788-01A-11D-1576-08	TCGA-CH-5788-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e272bea-9193-4c10-a802-f7e18b2937a3	ebc70303-3561-4cf6-a274-8c83d1d5f9bd	g.chr22:36960764G>A	ENST00000300105.6	-	4	1587	c.606C>T	c.(604-606)atC>atT	p.I202I		NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	202					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	p.I202I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						TGTGCCGGTCGATAAACATGT	0.622													142	194					0	0	0.870114	0	0	A	36960764	G	A	36960764	2	1	27	1	0	0	0	0	0	0	0	1	2575	1048	37	1		1	CACNG2	22	36960764	Silent	SNP	G	TCGA-CH-5788-01A-11D-1576-08		36960764	14343802	65	1599											
MFSD4	148808	broad.mit.edu	37	chr1	205549915	205549915	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcccgaggccacctgttcCatgtctccagggtgctgggc	4	9	12	16	1	1	0	0	0	1	0	4	1	3	0	6	3	1	2	6	3	0	1			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr1:205549915C>A	ENST00000367147.4	+	3	649	c.556C>A	c.(556-558)Cat>Aat	p.H186N	MFSD4_ENST00000539267.1_Missense_Mutation_p.H186N|MFSD4_ENST00000536357.1_Intron	NM_181644.4	NP_857595.3	Q8N468	MFSD4_HUMAN	major facilitator superfamily domain containing 4	186					transmembrane transport	integral to membrane		p.H186N(1)		central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			CCACCTGTTCCATGTCTCCAG	0.617													4	92					1	1	1	1	0	A	205549915	C	A	205549915	3	1	28	1	0	0	0	0	1	0	0	0	9583	594	21	4	566	4	MFSD4	1	205549915	Missense_Mutation	SNP	C	TCGA-CH-5789-01A-11D-1576-08		205549915	43700706	1	1600											
RYR2	6262	broad.mit.edu	37	chr1	237801684	237801684	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttatttggctggttgtggaCtgcaaagttgccagatgctg	7	14	14	6	0	0	1	0	0	0	1	0	2	0	2	1	3	3	6	1	3	2	4			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr1:237801684C>T	ENST00000366574.2	+	45	7137	c.6820C>T	c.(6820-6822)Ctg>Ttg	p.L2274L	RYR2_ENST00000360064.6_Silent_p.L2272L|RYR2_ENST00000542537.1_Silent_p.L2258L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2274	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.L2274L(1)|p.L2272L(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGGTTGTGGACTGCAAAGTTG	0.413													8	248					0	0	1	0	0	T	237801684	C	T	237801684	2	4	28	1	0	0	0	0	0	0	0	1	13821	564	20	2		2	RYR2	1	237801684	Silent	SNP	C	TCGA-CH-5789-01A-11D-1576-08	32251769	237801684	11448937	2	1601											
SH3BP5L	80851	broad.mit.edu	37	chr1	249107303	249107303	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcagcctgttggcacagcCgagtcactcgctggtgctcc	5	9	11	16	2	2	0	2	0	0	0	4	1	3	0	4	2	3	4	4	2	0	1			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr1:249107303C>A	ENST00000366472.5	-	6	1825	c.596G>T	c.(595-597)cGg>cTg	p.R199L	SH3BP5L_ENST00000411742.2_Missense_Mutation_p.R167L|SH3BP5L_ENST00000475978.1_5'UTR	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	199								p.R199L(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			TTGGCACAGCCGAGTCACTCG	0.637													2	5					0.0784	0.0866526	1	1	0	A	249107303	C	A	249107303	3	1	28	1	0	0	0	0	1	0	0	0	14302	652	23	4	593	4	SH3BP5L	1	249107303	Missense_Mutation	SNP	C	TCGA-CH-5789-01A-11D-1576-08	11305619	249107303	143318	3	1602											
NLRC4	58484	broad.mit.edu	37	chr2	32475161	32475161	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcaaataagtaatcggggAtgttccctgagttgatatat	13	13	10	5	1	1	2	1	2	0	0	3	3	2	3	1	2	0	3	1	2	5	6			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr2:32475161A>T	ENST00000404025.2	-	5	2260	c.1772T>A	c.(1771-1773)aTc>aAc	p.I591N	NLRC4_ENST00000360906.5_Missense_Mutation_p.I591N|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Missense_Mutation_p.I591N			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	591					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	p.I591N(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GTAATCGGGGATGTTCCCTGA	0.408													6	245					0	0	1	0	0	T	32475161	A	T	32475161	3	4	28	1	0	0	0	0	1	0	0	0	10516	333	12	5	1326	5	NLRC4	2	32475161	Missense_Mutation	SNP	A	TCGA-CH-5789-01A-11D-1576-08		32475161	210724212	4	1603											
LTBP1	4052	broad.mit.edu	37	chr2	33172887	33172887	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaagcagcagctgcaggggTaagcccacacccccttccgc	10	4	11	16	1	0	1	0	0	0	1	1	1	1	1	4	2	5	5	4	2	2	2			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr2:33172887T>C	ENST00000404816.2	+	1	847		c.e1+2		LTBP1_ENST00000354476.3_Splice_Site			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1						negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	p.?(2)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GCTGCAGGGGTAAgcccacac	0.726													2	9					0	0	1	0	0	C	33172887	T	C	33172887	5	2	28	1	0	0	0	0	0	0	1	0	9118	1652	57	3	498	3	LTBP1	2	33172887	Splice_Site	SNP	T	TCGA-CH-5789-01A-11D-1576-08	697726	33172887	210026486	5	1604											
THNSL2	55258	broad.mit.edu	37	chr2	88478453	88478453	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttctttgcttacttccaGtgtacgccatccttggacac	7	14	6	14	1	1	0	0	0	1	0	3	1	3	1	3	1	3	2	3	1	2	6			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr2:88478453G>A	ENST00000324166.5	+	4	2414	c.723G>A	c.(721-723)caG>caA	p.Q241Q	THNSL2_ENST00000402102.1_Silent_p.Q241Q|THNSL2_ENST00000496844.1_3'UTR|THNSL2_ENST00000449349.1_Silent_p.Q209Q|THNSL2_ENST00000343544.4_Silent_p.Q241Q|THNSL2_ENST00000377254.3_Silent_p.Q241Q|THNSL2_ENST00000358591.2_Silent_p.Q241Q	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	241					threonine biosynthetic process		threonine synthase activity	p.Q241Q(1)		breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						CTTACTTCCAGTGTACGCCAT	0.552													10	447					0	0	1	0	0	A	88478453	G	A	88478453	2	1	28	1	0	0	0	0	0	0	0	1	15923	1020	36	2		2	THNSL2	2	88478453	Silent	SNP	G	TCGA-CH-5789-01A-11D-1576-08	55305566	88478453	154720920	6	1605											
CP	1356	broad.mit.edu	37	chr3	148905905	148905905	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgatcaggtgcagttgtaaAcattctaatattatcttcca	12	15	6	8	0	3	1	1	1	2	0	4	1	4	1	1	1	2	3	1	1	5	7			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr3:148905905A>C	ENST00000264613.6	-	10	2060	c.1798T>G	c.(1798-1800)Ttt>Gtt	p.F600V	CP_ENST00000462336.1_5'UTR	NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	600	F5/8 type A 2.|Plastocyanin-like 4.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	p.F600V(1)		breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	GCAGTTGTAAACATTCTAATA	0.343													6	261					0	0	1	0	0	C	148905905	A	C	148905905	3	2	28	1	0	0	0	0	1	0	0	0	3810	43	2	5	1439	5	CP	3	148905905	Missense_Mutation	SNP	A	TCGA-CH-5789-01A-11D-1576-08		148905905	49116525	7	1606											
DAXX	1616	broad.mit.edu	37	chr6	33287900	33287900	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcctcctcttcttcttcCtcctcctcctcctcttcctc	0	17	1	23	0	4	0	0	0	4	0	13	0	12	0	9	0	0	0	9	0	0	4			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr6:33287900C>T	ENST00000374542.5	-	5	1557	c.1353G>A	c.(1351-1353)gaG>gaA	p.E451E	DAXX_ENST00000414083.2_Silent_p.E376E|DAXX_ENST00000477162.1_5'UTR|DAXX_ENST00000266000.6_Silent_p.E451E	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	451	Asp/Glu-rich (acidic).|Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding	p.E451E(2)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						cttcttcttcctcctcctcct	0.557			"Mis, F, N"		Pancreatic neuroendocrine tumors. Paediatric GBM								3	91					0	0	1	0	0	T	33287900	C	T	33287900	2	4	28	1	0	0	0	0	0	0	0	1	4267	680	24	2		2	DAXX	6	33287900	Silent	SNP	C	TCGA-CH-5789-01A-11D-1576-08		33287900	137827167	8	1607											
GABRR2	2570	broad.mit.edu	37	chr6	89974189	89974189	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtcaggtagttgacagccGcatactccagcaccgagagg	10	7	13	11	2	1	2	1	1	0	1	2	3	2	2	3	3	3	4	3	3	2	3	rs149245573	by1000genomes	TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr6:89974189G>A	ENST00000402938.3	-	8	1161	c.1028C>T	c.(1027-1029)gCg>gTg	p.A343V	GABRR2_ENST00000602399.1_Missense_Mutation_p.A368V			P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	368					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	p.A343V(3)		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)		GTTGACAGCCGCATACTCCAG	0.597													3	53					0	0	1	0	0	A	89974189	G	A	89974189	3	1	28	1	0	0	0	0	1	0	0	0	6212	1087	38	1	377	1	GABRR2	6	89974189	Missense_Mutation	SNP	G	TCGA-CH-5789-01A-11D-1576-08	56686289	89974189	81140878	9	1608											
ADCY1	107	broad.mit.edu	37	chr7	45744119	45744119	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttatgttttaaacaaagctCatggaaaaagacttttacaa	17	14	5	5	0	1	1	1	0	0	1	1	2	1	2	0	1	3	2	0	1	8	6			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr7:45744119C>A	ENST00000297323.7	+	17	2743	c.2721C>A	c.(2719-2721)ctC>ctA	p.L907L		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	907					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	p.L907L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	AAACAAAGCTCATGGAAAAAG	0.498													6	134					5.9392e-07	6.74179e-07	1	1	0	A	45744119	C	A	45744119	2	1	28	1	0	0	0	0	0	0	0	1	291	813	29	4		4	ADCY1	7	45744119	Silent	SNP	C	TCGA-CH-5789-01A-11D-1576-08		45744119	113394544	10	1609											
PEX1	5189	broad.mit.edu	37	chr7	92147136	92147136	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaactggaatctctgactcGttttcattagattcagtgat	10	16	7	8	1	4	3	3	2	1	1	6	4	4	4	0	1	1	1	0	1	3	4			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr7:92147136G>A	ENST00000248633.4	-	5	788	c.693C>T	c.(691-693)aaC>aaT	p.N231N	PEX1_ENST00000428214.1_Silent_p.N231N|PEX1_ENST00000438045.1_Intron	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	231					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	p.N231N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TCTCTGACTCGTTTTCATTAG	0.363													6	147					0	0	1	0	0	A	92147136	G	A	92147136	2	1	28	1	0	0	0	0	0	0	0	1	11783	1136	40	1		1	PEX1	7	92147136	Silent	SNP	G	TCGA-CH-5789-01A-11D-1576-08	46403017	92147136	66991527	11	1610											
PPP1R3A	5506	broad.mit.edu	37	chr7	113519968	113519968	+	Frame_Shift_Del	DEL	T	T	-																															cagtcatctcctgaggaataTttttcattgcagtaaaaatc																										TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr7:113519968delT	ENST00000284601.3	-	4	1247	c.1179delA	c.(1177-1179)aafs	p.K393fs		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	393					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CTGAGGAATATTTTTCATTGC	0.393													8	413	---	---	---	---						-	113519968	T	-	113519968	7	5	28	1	0	1	0	1	0	0	0	0	12420	1490	52	0	2193	0	PPP1R3A	7	113519968	Frame_Shift_Del	DEL	T	TCGA-CH-5789-01A-11D-1576-08	21372832	113519968	45618695	12	1611											
CHMP7	91782	broad.mit.edu	37	chr8	23114023	23114023	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggtctctccagtcaatgaCgtagatgttggggtgtacca	10	11	12	8	1	2	2	1	1	1	1	4	2	3	2	2	3	1	3	2	3	4	3			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr8:23114023C>T	ENST00000397677.1	+	5	1356	c.708C>T	c.(706-708)gaC>gaT	p.D236D	CHMP7_ENST00000313219.7_Silent_p.D236D	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7	236					cellular membrane organization|late endosome to vacuole transport	cytosol|ESCRT III complex	protein transporter activity	p.D236D(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		CAGTCAATGACGTAGATGTTG	0.502													5	299					0	0	1	0	0	T	23114023	C	T	23114023	2	4	28	1	0	0	0	0	0	0	0	1	3383	535	19	1		1	CHMP7	8	23114023	Silent	SNP	C	TCGA-CH-5789-01A-11D-1576-08		23114023	123249999	13	1612											
PCDH15	65217	broad.mit.edu	37	chr10	56287578	56287578	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaactcacttaccattccGactttcttcatcaatagcaa	15	12	2	12	1	4	0	3	0	1	0	5	1	5	0	2	0	3	1	2	0	6	5			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr10:56287578G>T	ENST00000373965.2	-	3	545	c.151C>A	c.(151-153)Cgg>Agg	p.R51R	PCDH15_ENST00000361849.3_Silent_p.R51R|PCDH15_ENST00000373955.1_Silent_p.R51R|PCDH15_ENST00000414778.1_Silent_p.R56R|PCDH15_ENST00000395445.1_Silent_p.R51R|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395446.1_Silent_p.R51R|PCDH15_ENST00000437009.1_Silent_p.R51R|RP11-257I14.1_ENST00000422842.1_RNA|PCDH15_ENST00000395430.1_Silent_p.R51R|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395433.1_Intron|PCDH15_ENST00000395432.2_Silent_p.R51R|PCDH15_ENST00000395440.1_Silent_p.R51R|PCDH15_ENST00000395442.1_Silent_p.R51R|PCDH15_ENST00000320301.6_Silent_p.R51R|PCDH15_ENST00000395438.1_Silent_p.R51R	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	51	Cadherin 1.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.R51R(3)|p.R56R(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTACCATTCCGACTTTCTTCA	0.343										HNSCC(58;0.16)			6	123					4.096e-09	4.9152e-09	1	1	0	T	56287578	G	T	56287578	2	4	28	1	0	0	0	0	0	0	0	1	11558	1057	37	4		4	PCDH15	10	56287578	Silent	SNP	G	TCGA-CH-5789-01A-11D-1576-08		56287578	79247169	14	1613											
IL10RA	3587	broad.mit.edu	37	chr11	117864125	117864125	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggtgccgggaaacttcacGgtatggggttccccaaggcc	9	7	14	11	2	1	0	1	0	0	0	2	1	2	1	4	6	2	2	4	6	4	3			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr11:117864125G>A	ENST00000227752.3	+	4	657	c.537_splice	c.e4+1	p.T179_splice	IL10RA_ENST00000545409.1_Splice_Site_p.T30_splice|IL10RA_ENST00000533700.1_3'UTR|IL10RA_ENST00000541785.1_Splice_Site_p.T159_splice	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	179						integral to membrane|plasma membrane	interleukin-10 receptor activity	p.T179T(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		GAAACTTCACGGTATGGGGTT	0.562													3	83					0	0	1	0	0	A	117864125	G	A	117864125	5	1	28	1	0	0	0	0	0	0	1	0	7664	1130	39	1	551	1	IL10RA	11	117864125	Splice_Site	SNP	G	TCGA-CH-5789-01A-11D-1576-08		117864125	17142391	15	1614											
CPSF2	53981	broad.mit.edu	37	chr14	92608697	92608697	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggagttttctaagtcccaggTttgttctcatgttgtcactt	6	18	9	8	0	3	0	2	0	2	0	5	1	4	1	1	2	0	4	1	2	1	7			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr14:92608697T>C	ENST00000298875.4	+	8	1134		c.e8+2			NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa						histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding	p.?(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		AAGTCCCAGGTTTGTTCTCAT	0.383													5	286					0	0	1	0	0	C	92608697	T	C	92608697	5	2	28	1	0	0	0	0	0	0	1	0	3848	1739	60	3	873	3	CPSF2	14	92608697	Splice_Site	SNP	T	TCGA-CH-5789-01A-11D-1576-08		92608697	14740843	16	1615											
CSPG4	1464	broad.mit.edu	37	chr15	75980335	75980335	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccacatggaagatccggCtgatggtctgcacaggggcg	8	6	17	10	2	1	2	0	1	1	1	2	3	2	3	2	6	1	2	2	6	1	0			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr15:75980335C>A	ENST00000308508.5	-	3	3163	c.3071G>T	c.(3070-3072)aGc>aTc	p.S1024I		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1024	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity	p.S1024I(1)		breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GAAGATCCGGCTGATGGTCTG	0.657													4	118					1	1	1	1	0	A	75980335	C	A	75980335	3	1	28	1	0	0	0	0	1	0	0	0	3985	797	28	4	3929	4	CSPG4	15	75980335	Missense_Mutation	SNP	C	TCGA-CH-5789-01A-11D-1576-08		75980335	26551057	17	1616											
MUC16	94025	broad.mit.edu	37	chr19	9075833	9075833	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttggggttgatttttctttCtcattccaggagtcagatgt	6	18	10	7	0	3	2	2	1	2	1	5	3	4	3	1	3	0	1	1	3	0	6			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr19:9075833C>T	ENST00000397910.4	-	3	11816	c.11613G>A	c.(11611-11613)gaG>gaA	p.E3871E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3872	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.E3871E(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATTTTTCTTTCTCATTCCAGG	0.448													8	100					0	0	1	0	0	T	9075833	C	T	9075833	2	4	28	1	0	0	0	0	0	0	0	1	10021	912	32	2		2	MUC16	19	9075833	Silent	SNP	C	TCGA-CH-5789-01A-11D-1576-08		9075833	50053150	18	1617											
PBX4	80714	broad.mit.edu	37	chr19	19675795	19675795	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctgggaccccaacttccGtggtatccacagccgtttta	7	11	8	15	2	0	0	0	0	0	0	3	1	3	1	6	2	2	2	6	2	3	4	rs139542458		TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr19:19675795G>A	ENST00000251203.8	-	6	1158	c.872C>T	c.(871-873)aCg>aTg	p.T291M		NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN	pre-B-cell leukemia homeobox 4	291							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.T291M(1)		large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						CCCAACTTCCGTGGTATCCAC	0.527													9	377					0	0	1	0	0	A	19675795	G	A	19675795	3	1	28	1	0	0	0	0	1	0	0	0	11542	1145	40	1	264	1	PBX4	19	19675795	Missense_Mutation	SNP	G	TCGA-CH-5789-01A-11D-1576-08	10599962	19675795	39453188	19	1618											
NSFL1C	55968	broad.mit.edu	37	chr20	1433675	1433675	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caggagggctttttcactcaCcctctgcggatagactccag	8	10	10	13	1	3	1	2	0	1	1	4	3	4	3	2	3	1	1	2	3	1	3			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr20:1433675C>T	ENST00000216879.4	-	6	1515		c.e6+1		NSFL1C_ENST00000461211.1_Splice_Site|NSFL1C_ENST00000350991.4_Splice_Site|NSFL1C_ENST00000476071.1_Splice_Site|NSFL1C_ENST00000353088.2_Splice_Site|NSFL1C_ENST00000381658.4_Splice_Site	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)							chromosome|Golgi stack|nucleus	lipid binding|protein binding	p.?(1)		breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						TTTTCACTCACCCTCTGCGGA	0.453													7	354					0	0	1	0	0	T	1433675	C	T	1433675	5	4	28	1	0	0	0	0	0	0	1	0	10720	521	18	2	480	2	NSFL1C	20	1433675	Splice_Site	SNP	C	TCGA-CH-5789-01A-11D-1576-08		1433675	61591845	20	1619											
RAE1	8480	broad.mit.edu	37	chr20	55948583	55948583	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaacaagcctactggttttgCcctgggaagtatcgagggga	10	9	14	8	1	0	0	0	0	0	0	1	4	0	2	2	4	4	2	2	4	5	4			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr20:55948583C>T	ENST00000395841.2	+	9	1115	c.695C>T	c.(694-696)gCc>gTc	p.A232V	RAE1_ENST00000395840.2_Missense_Mutation_p.A232V|RAE1_ENST00000371242.2_Missense_Mutation_p.A232V|RAE1_ENST00000527947.1_Missense_Mutation_p.A232V	NM_003610.3	NP_003601.1	P78406	RAE1L_HUMAN	ribonucleic acid export 1	232					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|cytoskeleton|nuclear outer membrane|nuclear pore	microtubule binding|RNA binding	p.A232V(1)		breast(1)|endometrium(5)|large_intestine(4)|lung(6)|prostate(3)|skin(2)	21	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)			ACTGGTTTTGCCCTGGGAAGT	0.398													4	137					0	0	1	0	0	T	55948583	C	T	55948583	3	4	28	1	0	0	0	0	1	0	0	0	13050	739	26	2	725	2	RAE1	20	55948583	Missense_Mutation	SNP	C	TCGA-CH-5789-01A-11D-1576-08	54514908	55948583	7076937	21	1620											
XRCC6	2547	broad.mit.edu	37	chr22	42057337	42057337	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgtgttttgattttctagtgCccaaggttgaagcaatgaat	10	16	10	5	0	1	3	0	3	1	0	1	3	1	3	1	1	2	3	1	1	5	6			TCGA-CH-5789-01A-11D-1576-08	TCGA-CH-5789-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b68c5ec2-0875-4d77-b4b7-738d2b2f313c	ce3a5af9-17c9-4195-8da2-1bee4bac3cac	g.chr22:42057337C>T	ENST00000359308.4	+	11	2180	c.1525C>T	c.(1525-1527)Ccc>Tcc	p.P509S	XRCC6_ENST00000405878.1_Missense_Mutation_p.P509S|XRCC6_ENST00000360079.3_Missense_Mutation_p.P509S|XRCC6_ENST00000428575.2_Missense_Mutation_p.P376S|XRCC6_ENST00000402580.3_Missense_Mutation_p.P468S|XRCC6_ENST00000405506.1_Missense_Mutation_p.P459S			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	509					DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding	p.P509S(2)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						TTTTCTAGTGCCCAAGGTTGA	0.473								Non-homologous end-joining					7	250					0	0	1	0	0	T	42057337	C	T	42057337	3	4	28	1	0	0	0	0	1	0	0	0	17517	739	26	2	1567	2	XRCC6	22	42057337	Missense_Mutation	SNP	C	TCGA-CH-5789-01A-11D-1576-08		42057337	9247229	22	1621											
PLCH2	9651	broad.mit.edu	37	chr1	2415902	2415902	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcaggaagcggacacggatGaccaccaagggacgctgggt	11	4	16	10	3	0	1	0	1	0	0	0	5	0	5	2	5	2	2	2	5	2	0			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr1:2415902G>A	ENST00000449969.1	+	5	741	c.580G>A	c.(580-582)Gac>Aac	p.D194N	PLCH2_ENST00000378486.3_Missense_Mutation_p.D221N|PLCH2_ENST00000378488.3_Missense_Mutation_p.D221N|PLCH2_ENST00000419816.2_Missense_Mutation_p.D221N|PLCH2_ENST00000378483.2_Intron|PLCH2_ENST00000288766.5_Intron			O75038	PLCH2_HUMAN	phospholipase C, eta 2	221	EF-hand 1.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.D221N(1)|p.D68N(1)		central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		GGACACGGATGACCACCAAGG	0.597													20	32					0	0	1	0	0	A	2415902	G	A	2415902	3	1	29	1	0	0	0	0	1	0	0	0	12086	1290	45	2	679	2	PLCH2	1	2415902	Missense_Mutation	SNP	G	TCGA-CH-5790-01A-11D-1576-08		2415902	246834719	1	1622											
AKNAD1	254268	broad.mit.edu	37	chr1	109369914	109369914	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgtggccctttttctccaCgttttgcttcctaaaaaaag	8	15	6	12	2	1	0	0	0	1	0	4	0	3	0	4	1	1	2	4	1	4	6			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr1:109369914C>T	ENST00000370001.3	-	11	2117	c.1849G>A	c.(1849-1851)Gtg>Atg	p.V617M	AKNAD1_ENST00000369994.1_Missense_Mutation_p.V587M|AKNAD1_ENST00000369995.3_Missense_Mutation_p.V617M|AKNAD1_ENST00000357393.4_Missense_Mutation_p.V324M	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	617								p.V617M(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TTTTTCTCCACGTTTTGCTTC	0.383													21	230					0	0	1	0	0	T	109369914	C	T	109369914	3	4	29	1	0	0	0	0	1	0	0	0	461	536	19	1	685	1	AKNAD1	1	109369914	Missense_Mutation	SNP	C	TCGA-CH-5790-01A-11D-1576-08	106954012	109369914	139880707	2	1623											
FCGR1A	2209	broad.mit.edu	37	chr1	149760144	149760144	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgggaaagcatcgctacaCatcagcaggaatatctgtca	14	8	9	10	1	3	0	2	0	1	0	4	2	3	2	0	2	3	3	0	2	4	2			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr1:149760144C>T	ENST00000369168.4	+	4	584	c.530C>T	c.(529-531)aCa>aTa	p.T177I	HIST2H2BF_ENST00000545683.1_Intron|RP11-196G18.21_ENST00000420462.1_RNA|RP11-196G18.3_ENST00000428289.1_RNA	NM_000566.3	NP_000557.1	P12314	FCGR1_HUMAN	Fc fragment of IgG, high affinity Ia, receptor (CD64)	177	Ig-like C2-type 2.				interferon-gamma-mediated signaling pathway|phagocytosis, engulfment	integral to membrane|plasma membrane	IgG binding|receptor activity|receptor signaling protein activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	10	Breast(34;0.0124)|all_hematologic(923;0.127)				Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CATCGCTACACATCAGCAGGA	0.413													5	198					0	0	1	0	0	T	149760144	C	T	149760144	3	4	29	1	0	0	0	0	1	0	0	0	5812	478	17	2	544	2	FCGR1A	1	149760144	Missense_Mutation	SNP	C	TCGA-CH-5790-01A-11D-1576-08	40390230	149760144	99490477	3	1624											
TMEM214	54867	broad.mit.edu	37	chr2	27258872	27258872	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggttaccgcatctgtatccaGgccatcctgcaagacaagcc	10	8	9	14	1	1	1	0	0	1	1	3	1	3	1	5	2	3	4	5	2	4	2			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr2:27258872G>A	ENST00000238788.9	+	5	734	c.672G>A	c.(670-672)caG>caA	p.Q224Q	TMEM214_ENST00000404032.3_Silent_p.Q179Q	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	224						integral to membrane	protein binding	p.Q224Q(1)		kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						TCTGTATCCAGGCCATCCTGC	0.517													18	44					0	0	1	0	0	A	27258872	G	A	27258872	2	1	29	1	0	0	0	0	0	0	0	1	16197	991	35	2		2	TMEM214	2	27258872	Silent	SNP	G	TCGA-CH-5790-01A-11D-1576-08		27258872	215940501	4	1625											
IRAK2	3656	broad.mit.edu	37	chr3	10251301	10251301	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagccagagcccaccagccGgcctttctccagcctcctga	7	6	8	20	1	1	2	0	1	1	1	3	2	2	2	9	1	4	0	9	1	0	1			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr3:10251301G>A	ENST00000256458.4	+	4	543	c.453G>A	c.(451-453)ccG>ccA	p.P151P		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	151					activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity	p.P151P(2)		breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						CCCACCAGCCGGCCTTTCTCC	0.597													7	275					0	0	1	0	0	A	10251301	G	A	10251301	2	1	29	1	0	0	0	0	0	0	0	1	7867	1103	39	1		1	IRAK2	3	10251301	Silent	SNP	G	TCGA-CH-5790-01A-11D-1576-08		10251301	187771129	5	1626											
COL7A1	1294	broad.mit.edu	37	chr3	48624753	48624753	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagatccctggaagtgtctgCggggacccaggcacttctgc	7	8	14	12	1	2	1	0	0	2	1	3	4	3	3	2	4	2	1	2	4	1	1			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr3:48624753C>T	ENST00000328333.8	-	23	3116	c.3009G>A	c.(3007-3009)ccG>ccA	p.P1003P	COL7A1_ENST00000454817.1_Silent_p.P1003P	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1003	Fibronectin type-III 9.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	p.P1003P(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GAAGTGTCTGCGGGGACCCAG	0.602													3	31					0	0	1	0	0	T	48624753	C	T	48624753	2	4	29	1	0	0	0	0	0	0	0	1	3727	755	27	1		1	COL7A1	3	48624753	Silent	SNP	C	TCGA-CH-5790-01A-11D-1576-08	38373452	48624753	149397677	6	1627											
GRM2	2912	broad.mit.edu	37	chr3	51746689	51746689	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtctgagggcgactatggCgagacaggcattgaggcctt	8	8	16	9	3	1	3	0	2	1	1	1	5	1	3	1	4	0	1	1	4	1	3			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr3:51746689C>T	ENST00000395052.3	+	3	885	c.651C>T	c.(649-651)ggC>ggT	p.G217G	GRM2_ENST00000475478.1_Intron|GRM2_ENST00000442933.2_Silent_p.G217G	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	217					synaptic transmission	integral to plasma membrane		p.G217G(2)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	GCGACTATGGCGAGACAGGCA	0.597													5	122					0	0	1	0	0	T	51746689	C	T	51746689	2	4	29	1	0	0	0	0	0	0	0	1	6838	755	27	1		1	GRM2	3	51746689	Silent	SNP	C	TCGA-CH-5790-01A-11D-1576-08	3121936	51746689	146275741	7	1628											
FGA	2243	broad.mit.edu	37	chr4	155505566	155505566	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtactctgccccttcctctaCggaaccctcaatcagagcat	9	10	6	16	1	4	1	2	0	2	1	5	2	5	2	4	1	5	2	4	1	4	3			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr4:155505566C>T	ENST00000302053.3	-	6	2389	c.2311G>A	c.(2311-2313)Gta>Ata	p.V771I		NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	771	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CCTTCCTCTACGGAACCCTCA	0.532													5	202					0	0	1	0	0	T	155505566	C	T	155505566	3	4	29	1	0	0	0	0	1	0	0	0	5863	536	19	1	293	1	FGA	4	155505566	Missense_Mutation	SNP	C	TCGA-CH-5790-01A-11D-1576-08		155505566	35648710	8	1629											
DMXL1	1657	broad.mit.edu	37	chr5	118469852	118469852	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgtggcatggctgcccactCttatacccagttattgtctg	7	14	9	11	0	2	0	0	0	2	0	2	0	2	0	2	2	2	3	2	2	3	4			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr5:118469852C>G	ENST00000311085.8	+	12	2313	c.2233C>G	c.(2233-2235)Ctt>Gtt	p.L745V	DMXL1_ENST00000539542.1_Missense_Mutation_p.L745V	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	745								p.L745V(1)		breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GCTGCCCACTCTTATACCCAG	0.383													8	242					0	0	1	0	0	G	118469852	C	G	118469852	3	3	29	1	0	0	0	0	1	0	0	0	4622	913	32	4	2279	4	DMXL1	5	118469852	Missense_Mutation	SNP	C	TCGA-CH-5790-01A-11D-1576-08		118469852	62445408	9	1630											
HSPA9	3313	broad.mit.edu	37	chr5	137893676	137893676	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggctggtggaattccaatCtaaaataaataatatccaga	16	10	9	6	0	1	1	0	0	1	1	3	2	3	2	2	4	0	1	2	4	8	5			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr5:137893676C>A	ENST00000297185.3	-	13	1641		c.e13-1		HSPA9_ENST00000501917.2_Intron	NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)						anti-apoptosis|protein folding	cell surface|mitochondrial nucleoid	ATP binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GAATTCCAATCTAAAATAAAT	0.388													4	110					0.00909568	0.009601	1	1	0	A	137893676	C	A	137893676	5	1	29	1	0	0	0	0	0	0	1	0	7460	927	32	4	544	4	HSPA9	5	137893676	Splice_Site	SNP	C	TCGA-CH-5790-01A-11D-1576-08	19423824	137893676	43021584	10	1631											
GRM1	2911	broad.mit.edu	37	chr6	146480672	146480672	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgtgaaggcatgacagtgCgaggactcctgagcgccatg	9	8	14	10	2	1	3	0	3	1	0	2	5	2	4	2	2	2	1	2	2	1	0			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr6:146480672C>T	ENST00000392299.2	+	3	1359	c.889C>T	c.(889-891)Cga>Tga	p.R297*	GRM1_ENST00000282753.1_Nonsense_Mutation_p.R297*|GRM1_ENST00000507907.1_Nonsense_Mutation_p.R297*|GRM1_ENST00000355289.4_Nonsense_Mutation_p.R297*|GRM1_ENST00000492807.2_Nonsense_Mutation_p.R297*|GRM1_ENST00000361719.2_Nonsense_Mutation_p.R297*			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	297					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.R297*(3)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CATGACAGTGCGAGGACTCCT	0.567													4	61					0	0	1	0	0	T	146480672	C	T	146480672	4	4	29	1	0	0	0	0	0	1	0	0	6837	760	27	1	895	1	GRM1	6	146480672	Nonsense_Mutation	SNP	C	TCGA-CH-5790-01A-11D-1576-08		146480672	24634395	11	1632											
AKAP12	9590	broad.mit.edu	37	chr6	151672372	151672372	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagaagaagaaccccccaCggttactgaacctctgccag	12	6	9	14	1	1	4	0	1	1	3	1	4	1	4	5	1	5	2	5	1	5	1			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr6:151672372C>T	ENST00000402676.2	+	4	3086	c.2846C>T	c.(2845-2847)aCg>aTg	p.T949M	AKAP12_ENST00000359755.5_Missense_Mutation_p.T844M|AKAP12_ENST00000354675.6_Missense_Mutation_p.T851M|AKAP12_ENST00000253332.1_Missense_Mutation_p.T949M	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	949					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	p.T949M(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GAACCCCCCACGGTTACTGAA	0.527													5	136					0	0	1	0	0	T	151672372	C	T	151672372	3	4	29	1	0	0	0	0	1	0	0	0	445	536	19	1	2885	1	AKAP12	6	151672372	Missense_Mutation	SNP	C	TCGA-CH-5790-01A-11D-1576-08	5191700	151672372	19442695	12	1633											
KCNB2	9312	broad.mit.edu	37	chr8	73848458	73848458	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacggagtccaacaagagcGtgctgcagttccaaaacgtg	12	7	12	10	3	0	2	0	1	0	1	2	3	2	3	2	1	5	3	2	1	4	1			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr8:73848458G>A	ENST00000523207.1	+	3	1456	c.868G>A	c.(868-870)Gtg>Atg	p.V290M		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	290					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.V290M(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CAACAAGAGCGTGCTGCAGTT	0.502													9	124					0	0	1	0	0	A	73848458	G	A	73848458	3	1	29	1	0	0	0	0	1	0	0	0	8057	1145	40	1	874	1	KCNB2	8	73848458	Missense_Mutation	SNP	G	TCGA-CH-5790-01A-11D-1576-08		73848458	72515564	13	1634											
SNTB1	6641	broad.mit.edu	37	chr8	121823678	121823678	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gatcttgctgatgaggatggGcatcttgttctccttgcccc	5	14	11	11	0	3	2	0	2	3	0	4	4	3	3	3	2	2	3	3	2	0	4			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr8:121823678G>A	ENST00000395601.3	-	2	820	c.406C>T	c.(406-408)Ccc>Tcc	p.P136S	SNTB1_ENST00000517992.1_Missense_Mutation_p.P136S|SNTB1_ENST00000519177.1_5'UTR	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	136	PDZ.|PH 1.				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding	p.P136S(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			ATGAGGATGGGCATCTTGTTC	0.637													4	69					0	0	1	0	0	A	121823678	G	A	121823678	3	1	29	1	0	0	0	0	1	0	0	0	14926	1203	42	2	1238	2	SNTB1	8	121823678	Missense_Mutation	SNP	G	TCGA-CH-5790-01A-11D-1576-08	47975220	121823678	24540344	14	1635											
FAM135B	51059	broad.mit.edu	37	chr8	139278045	139278045	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaaagacccggctgtgcacGgtgctgtcatggacacaggc	9	7	14	11	2	1	2	1	1	0	1	1	3	1	3	1	4	2	3	1	4	1	0			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr8:139278045G>A	ENST00000395297.1	-	4	368	c.198C>T	c.(196-198)acC>acT	p.T66T		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	66								p.T66T(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GGCTGTGCACGGTGCTGTCAT	0.502										HNSCC(54;0.14)			3	78					0	0	1	0	0	A	139278045	G	A	139278045	2	1	29	1	0	0	0	0	0	0	0	1	5480	1103	39	1		1	FAM135B	8	139278045	Silent	SNP	G	TCGA-CH-5790-01A-11D-1576-08	17454367	139278045	7085977	15	1636											
KIFC2	90990	broad.mit.edu	37	chr8	145693004	145693004	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cagcggctggagcagctcatCctgggacaggtgaggtccct	7	7	15	12	1	1	1	1	1	0	0	3	3	3	3	2	5	3	3	2	5	0	0			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr8:145693004C>G	ENST00000301332.2	+	5	983	c.606C>G	c.(604-606)atC>atG	p.I202M	KIFC2_ENST00000301331.5_5'UTR	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	202	Gln-rich.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	p.I202M(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			AGCAGCTCATCCTGGGACAGG	0.647											OREG0019057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	61					0	0	1	0	0	G	145693004	C	G	145693004	3	3	29	1	0	0	0	0	1	0	0	0	8355	845	30	4	624	4	KIFC2	8	145693004	Missense_Mutation	SNP	C	TCGA-CH-5790-01A-11D-1576-08	6414959	145693004	671018	16	1637											
SUSD1	64420	broad.mit.edu	37	chr9	114840901	114840901	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgtagttggtacccggaCgtaggtccaagcacacctcg	9	9	11	12	3	0	0	0	0	0	0	2	1	1	1	3	3	2	5	3	3	4	5			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr9:114840901C>T	ENST00000374270.3	-	12	1842	c.1670G>A	c.(1669-1671)cGt>cAt	p.R557H	SUSD1_ENST00000374263.3_Missense_Mutation_p.R557H|SUSD1_ENST00000374264.2_Missense_Mutation_p.R557H	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	557						integral to membrane	calcium ion binding	p.R557H(1)	SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GGTACCCGGACGTAGGTCCAA	0.493													13	122					0	0	1	0	0	T	114840901	C	T	114840901	3	4	29	1	0	0	0	0	1	0	0	0	15463	536	19	1	597	1	SUSD1	9	114840901	Missense_Mutation	SNP	C	TCGA-CH-5790-01A-11D-1576-08		114840901	26372530	17	1638											
KIF5B	3799	broad.mit.edu	37	chr10	32337438	32337438	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatacacttgctcttgagaTgtgcttgactggaacacccg	9	13	9	10	1	1	2	0	2	1	1	1	4	1	3	1	1	4	2	1	1	3	5			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr10:32337438T>C	ENST00000302418.4	-	2	625	c.168A>G	c.(166-168)acA>acG	p.T56T		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	56	Kinesin-motor.				stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity	p.T56T(1)	KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				GCTCTTGAGATGTGCTTGACT	0.338			T	"RET, ALK"	NSCLC								5	134					0	0	1	0	0	C	32337438	T	C	32337438	2	2	29	1	0	0	0	0	0	0	0	1	8348	1451	51	3		3	KIF5B	10	32337438	Silent	SNP	T	TCGA-CH-5790-01A-11D-1576-08		32337438	103197309	18	1639											
OR10A4	283297	broad.mit.edu	37	chr11	6898608	6898608	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcattctccacctgttccGcccacctcttggttgtctct	4	14	7	16	1	3	0	0	0	3	0	6	0	4	0	5	2	0	3	5	2	0	4			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr11:6898608G>A	ENST00000379829.2	+	1	753	c.730G>A	c.(730-732)Gcc>Acc	p.A244T		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A244T(2)		kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CACCTGTTCCGCCCACCTCTT	0.527													15	157					0	0	1	0	0	A	6898608	G	A	6898608	3	1	29	1	0	0	0	0	1	0	0	0	10940	1087	38	1	732	1	OR10A4	11	6898608	Missense_Mutation	SNP	G	TCGA-CH-5790-01A-11D-1576-08		6898608	128107908	19	1640											
NAV2	89797	broad.mit.edu	37	chr11	20119232	20119232	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacacttccgaaacaccggAgctgcttccttgtggctatc	9	10	8	14	2	0	0	0	0	0	0	3	2	2	1	3	2	4	3	3	2	3	4			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr11:20119232A>G	ENST00000396085.1	+	32	6492	c.6131A>G	c.(6130-6132)gAg>gGg	p.E2044G	NAV2_ENST00000396087.3_Missense_Mutation_p.E2100G|NAV2_ENST00000311043.8_Missense_Mutation_p.E1105G|NAV2_ENST00000349880.4_Missense_Mutation_p.E2041G|NAV2_ENST00000527559.2_Missense_Mutation_p.E2029G|NAV2_ENST00000533917.1_Missense_Mutation_p.E1105G|NAV2_ENST00000540292.1_Missense_Mutation_p.E2031G|NAV2_ENST00000360655.4_Missense_Mutation_p.E1977G	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	2100						nucleus	ATP binding|helicase activity	p.E2100G(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GAAACACCGGAGCTGCTTCCT	0.493													8	135					0	0	1	0	0	G	20119232	A	G	20119232	3	3	29	1	0	0	0	0	1	0	0	0	10232	304	11	3	6362	3	NAV2	11	20119232	Missense_Mutation	SNP	A	TCGA-CH-5790-01A-11D-1576-08	13220624	20119232	114887284	20	1641											
CASP1	834	broad.mit.edu	37	chr11	104897573	104897573	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccactagcatcttaccttgCggaaaatttcctccacatca	11	12	4	14	1	2	0	1	0	1	0	5	1	5	1	4	1	3	1	4	1	4	4	rs148018877		TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr11:104897573C>T	ENST00000533400.1	-	8	1147	c.1112G>A	c.(1111-1113)cGc>cAc	p.R371H	CASP1_ENST00000534497.1_Missense_Mutation_p.R230H|CASP1_ENST00000415981.2_Missense_Mutation_p.R55H|CASP1_ENST00000393136.4_Missense_Mutation_p.R350H|CASP1_ENST00000531166.1_Missense_Mutation_p.R55H|CASP1_ENST00000528974.1_3'UTR|CASP1_ENST00000594519.1_Missense_Mutation_p.R230H|CASP1_ENST00000527979.1_Missense_Mutation_p.R334H|CASP1_ENST00000593315.1_Missense_Mutation_p.R350H|CASP1_ENST00000436863.3_Missense_Mutation_p.R371H|CASP1_ENST00000526568.1_Missense_Mutation_p.R278H|CASP1_ENST00000446369.1_Missense_Mutation_p.R230H|CASP1_ENST00000353247.5_Missense_Mutation_p.R55H|CASP1_ENST00000525825.1_Missense_Mutation_p.R350H|CASP1_ENST00000598974.1_Missense_Mutation_p.R371H	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	371					cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding	p.R371H(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	TCTTACCTTGCGGAAAATTTC	0.408													8	118					0	0	1	0	0	T	104897573	C	T	104897573	3	4	29	1	0	0	0	0	1	0	0	0	2686	768	27	1	110	1	CASP1	11	104897573	Missense_Mutation	SNP	C	TCGA-CH-5790-01A-11D-1576-08	84778341	104897573	30108943	21	1642											
GNB3	2784	broad.mit.edu	37	chr12	6950751	6950751	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtctgctttccctgcaggAtgccaggaaagcctgtgctg	7	11	12	11	0	1	0	0	0	1	0	2	2	2	2	3	2	5	3	3	2	1	1			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr12:6950751A>G	ENST00000229264.3	+	4	464	c.57_splice	c.e4-1	p.D20_splice	GNB3_ENST00000435982.2_Splice_Site_p.D20_splice	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	20					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity	p.D20G(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						TCCCTGCAGGATGCCAGGAAA	0.667													12	28					0	0	1	0	0	G	6950751	A	G	6950751	5	3	29	1	0	0	0	0	0	0	1	0	6561	347	12	3	65	3	GNB3	12	6950751	Splice_Site	SNP	A	TCGA-CH-5790-01A-11D-1576-08		6950751	126901144	22	1643											
SLC38A1	81539	broad.mit.edu	37	chr12	46594935	46594935	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtacataacaaacatggCgaaaaaggagatgtttgaaa	20	7	10	4	1	0	2	0	1	0	1	0	5	0	2	0	2	3	2	0	2	7	3			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr12:46594935C>T	ENST00000398637.5	-	13	1643	c.949G>A	c.(949-951)Gcc>Acc	p.A317T	SLC38A1_ENST00000546893.1_Missense_Mutation_p.A317T|SLC38A1_ENST00000549049.1_Missense_Mutation_p.A317T|SLC38A1_ENST00000549633.1_5'UTR|SLC38A1_ENST00000439706.1_Missense_Mutation_p.A317T|SLC38A1_ENST00000552197.1_Missense_Mutation_p.A317T	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	317					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity	p.A317T(1)		NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			ACAAACATGGCGAAAAAGGAG	0.289													14	29					0	0	1	0	0	T	46594935	C	T	46594935	3	4	29	1	0	0	0	0	1	0	0	0	14656	768	27	1	534	1	SLC38A1	12	46594935	Missense_Mutation	SNP	C	TCGA-CH-5790-01A-11D-1576-08	39644184	46594935	87256960	23	1644											
PCK2	5106	broad.mit.edu	37	chr14	24572967	24572967	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtgcccgagagacacccAttgggctggtgccaaaggaa	12	5	13	11	1	0	1	0	0	0	1	0	4	0	2	3	3	2	1	3	3	2	1			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr14:24572967A>G	ENST00000545054.2	+	10	2233	c.1315A>G	c.(1315-1317)Att>Gtt	p.I439V	PCK2_ENST00000558096.1_Missense_Mutation_p.I407V|NRL_ENST00000561028.1_Intron|PCK2_ENST00000559250.1_Intron|PCK2_ENST00000216780.4_Missense_Mutation_p.I573V|PCK2_ENST00000561286.1_Missense_Mutation_p.I439V			Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	573					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	p.I573V(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		AGAGACACCCATTGGGCTGGT	0.607													41	65					0	0	1	0	0	G	24572967	A	G	24572967	3	3	29	1	0	0	0	0	1	0	0	0	11629	217	8	3	1847	3	PCK2	14	24572967	Missense_Mutation	SNP	A	TCGA-CH-5790-01A-11D-1576-08		24572967	82776573	24	1645											
MLH3	27030	broad.mit.edu	37	chr14	75515946	75515946	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtcccagcgcttgctctaGtcacatcagcttcacaagct	9	11	7	14	1	4	0	3	0	1	0	5	0	5	0	1	0	4	4	1	0	3	4			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr14:75515946G>C	ENST00000355774.2	-	2	628	c.413C>G	c.(412-414)aCt>aGt	p.T138S	MLH3_ENST00000556740.1_Missense_Mutation_p.T138S|MLH3_ENST00000556257.1_Missense_Mutation_p.T138S|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000238662.7_Missense_Mutation_p.T138S	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN	mutL homolog 3	138					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding	p.T138S(2)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		GCTTGCTCTAGTCACATCAGC	0.428								Mismatch excision repair (MMR)					10	186					0	0	1	0	0	C	75515946	G	C	75515946	3	2	29	1	0	0	0	0	1	0	0	0	9666	1029	36	4	3996	4	MLH3	14	75515946	Missense_Mutation	SNP	G	TCGA-CH-5790-01A-11D-1576-08	50942979	75515946	31833594	25	1646											
ASB2	51676	broad.mit.edu	37	chr14	94420665	94420665	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcagagcccagccctcacctCgctgcaggactttcaggcag	8	7	10	16	1	3	1	3	0	0	1	4	2	3	2	3	2	3	3	3	2	0	1			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr14:94420665C>T	ENST00000555019.1	-	4	906	c.476G>A	c.(475-477)cGa>cAa	p.R159Q	ASB2_ENST00000315988.4_Missense_Mutation_p.R111Q|ASB2_ENST00000556337.1_Intron	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	111					intracellular signal transduction			p.R111Q(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		GCCCTCACCTCGCTGCAGGAC	0.612													4	76					0	0	1	0	0	T	94420665	C	T	94420665	3	4	29	1	0	0	0	0	1	0	0	0	1022	884	31	1	1459	1	ASB2	14	94420665	Missense_Mutation	SNP	C	TCGA-CH-5790-01A-11D-1576-08	18904719	94420665	12928875	26	1647											
ALDH1A2	8854	broad.mit.edu	37	chr15	58306075	58306075	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaagaactgccctgtccCgttccaccaagtctgcaagc	9	8	8	16	1	1	1	0	0	1	1	3	1	3	1	4	0	5	3	4	0	4	1			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr15:58306075C>G	ENST00000249750.4	-	3	1111	c.344G>C	c.(343-345)cGg>cCg	p.R115P	ALDH1A2_ENST00000559517.1_Missense_Mutation_p.R19P|ALDH1A2_ENST00000537372.1_Missense_Mutation_p.R94P|ALDH1A2_ENST00000347587.3_Missense_Mutation_p.R115P|ALDH1A2_ENST00000558231.1_Missense_Mutation_p.R86P	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	115					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity	p.R115P(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	TGCCCTGTCCCGTTCCACCAA	0.458													19	532					0	0	1	0	0	G	58306075	C	G	58306075	3	3	29	1	0	0	0	0	1	0	0	0	488	652	23	4	1256	4	ALDH1A2	15	58306075	Missense_Mutation	SNP	C	TCGA-CH-5790-01A-11D-1576-08		58306075	44225317	27	1648											
ADCY9	115	broad.mit.edu	37	chr16	4016225	4016225	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcttcgctcacctggatgcGgcactccacgccggtggtgt	4	10	12	15	4	2	0	1	0	1	0	4	1	3	1	3	4	1	2	3	4	0	1			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr16:4016225G>A	ENST00000294016.3	-	11	4151	c.3613C>T	c.(3613-3615)Cgc>Tgc	p.R1205C		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	1205					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	p.R1205C(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						ACCTGGATGCGGCACTCCACG	0.597													7	176					0	0	1	0	0	A	4016225	G	A	4016225	3	1	29	1	0	0	0	0	1	0	0	0	300	1116	39	1	452	1	ADCY9	16	4016225	Missense_Mutation	SNP	G	TCGA-CH-5790-01A-11D-1576-08		4016225	86338528	28	1649											
IRF8	3394	broad.mit.edu	37	chr16	85936702	85936702	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcatgtatccaggactgatTtgggagaatgaggagaagag	14	8	15	4	0	0	5	0	2	0	3	1	8	1	6	1	3	1	2	1	3	3	2			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr16:85936702T>C	ENST00000268638.5	+	2	503	c.81T>C	c.(79-81)atT>atC	p.I27I	IRF8_ENST00000563180.1_Silent_p.I27I	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	27					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	p.I27I(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				CAGGACTGATTTGGGAGAATG	0.478													3	74					0	0	1	0	0	C	85936702	T	C	85936702	2	2	29	1	0	0	0	0	0	0	0	1	7880	1829	64	3		3	IRF8	16	85936702	Silent	SNP	T	TCGA-CH-5790-01A-11D-1576-08	81920477	85936702	4418051	29	1650											
PTPRM	5797	broad.mit.edu	37	chr18	8113637	8113637	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaatttcctgcagacagcctCcaagctgcgcagccttttac	9	10	8	14	1	0	1	0	0	0	1	2	2	2	1	4	0	6	3	4	0	3	3			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr18:8113637C>A	ENST00000332175.8	+	12	3047	c.2010C>A	c.(2008-2010)ctC>ctA	p.L670L	PTPRM_ENST00000400053.4_Silent_p.L608L|PTPRM_ENST00000400060.4_Silent_p.L670L|PTPRM_ENST00000580170.1_Silent_p.L670L|PTPRM_ENST00000444013.1_Silent_p.L457L	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	670	Fibronectin type-III 4.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	p.L670L(2)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				CAGACAGCCTCCAAGCTGCGC	0.423													93	114					1.42479e-40	1.56178e-40	1	1	0	A	8113637	C	A	8113637	2	1	29	1	0	0	0	0	0	0	0	1	12858	842	30	4		4	PTPRM	18	8113637	Silent	SNP	C	TCGA-CH-5790-01A-11D-1576-08		8113637	69963611	30	1651											
ADAMTSL5	339366	broad.mit.edu	37	chr19	1507384	1507384	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcccattaagcacgtagcGcccatcgccccccatcagtg	8	7	9	17	3	1	0	1	0	0	0	2	0	1	0	5	0	3	2	5	0	2	2			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr19:1507384G>A	ENST00000330475.4	-	9	1152	c.709C>T	c.(709-711)Cgc>Tgc	p.R237C	ADAMTSL5_ENST00000590562.1_5'UTR|ADAMTSL5_ENST00000413997.2_Missense_Mutation_p.R247C|ADAMTSL5_ENST00000395467.2_Missense_Mutation_p.R6C	NM_213604.2	NP_998769.2	Q6ZMM2	ATL5_HUMAN	ADAMTS-like 5	237						proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R237C(1)		cervix(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCACGTAGCGCCCATCGCCC	0.657													11	82					0	0	1	0	0	A	1507384	G	A	1507384	3	1	29	1	0	0	0	0	1	0	0	0	277	1087	38	1	722	1	ADAMTSL5	19	1507384	Missense_Mutation	SNP	G	TCGA-CH-5790-01A-11D-1576-08		1507384	57621599	31	1652											
GPATCH1	55094	broad.mit.edu	37	chr19	33584366	33584366	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaggctaggcagttggcCgctgctactgcccctattcc	8	9	11	13	1	0	0	0	0	0	0	1	1	1	0	4	3	3	5	4	3	5	5	rs139698891		TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr19:33584366C>T	ENST00000170564.2	+	4	710	c.396C>T	c.(394-396)gcC>gcT	p.A132A		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	132						catalytic step 2 spliceosome	nucleic acid binding	p.A132A(1)		breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					GGCAGTTGGCCGCTGCTACTG	0.488													56	99					0	0	1	0	0	T	33584366	C	T	33584366	2	4	29	1	0	0	0	0	0	0	0	1	6630	639	23	1		1	GPATCH1	19	33584366	Silent	SNP	C	TCGA-CH-5790-01A-11D-1576-08	32076982	33584366	25544617	32	1653											
CEACAM6	4680	broad.mit.edu	37	chr19	42259586	42259586	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccctgcagattgcatgtcCcctggaaggaggtcctgctc	6	10	11	14	0	0	1	0	0	0	1	4	3	3	3	4	3	3	3	4	3	1	1			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr19:42259586C>A	ENST00000199764.6	+	1	258	c.40C>A	c.(40-42)Ccc>Acc	p.P14T	CEA_ENST00000598976.1_Intron	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	14					cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane		p.P14T(1)		breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		ATTGCATGTCCCCTGGAAGGA	0.607													5	97					0.184627	0.184627	1	1	0	A	42259586	C	A	42259586	3	1	29	1	0	0	0	0	1	0	0	0	3218	623	22	4	42	4	CEACAM6	19	42259586	Missense_Mutation	SNP	C	TCGA-CH-5790-01A-11D-1576-08	8675220	42259586	16869397	33	1654											
MAPRE1	22919	broad.mit.edu	37	chr20	31427559	31427559	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agctccccagaggcccatctCaacacagagaaccgctgcgg	11	4	10	16	2	1	2	1	0	1	2	3	3	2	2	4	2	4	2	4	2	2	0			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chr20:31427559C>G	ENST00000375571.5	+	5	633	c.494C>G	c.(493-495)tCa>tGa	p.S165*		NM_012325.2	NP_036457.1	Q15691	MARE1_HUMAN	microtubule-associated protein, RP/EB family, member 1	165	Interaction with MTUS2/TIP150.				cell division|cell proliferation|G2/M transition of mitotic cell cycle|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule	centrosome|cortical microtubule cytoskeleton|cytosol	microtubule plus-end binding|protein C-terminus binding	p.S165*(1)		endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						AGGCCCATCTCAACACAGAGA	0.527													12	457					0	0	1	0	0	G	31427559	C	G	31427559	4	3	29	1	0	0	0	0	0	1	0	0	9344	838	29	4	508	4	MAPRE1	20	31427559	Nonsense_Mutation	SNP	C	TCGA-CH-5790-01A-11D-1576-08		31427559	31597961	34	1655											
HDAC8	55869	broad.mit.edu	37	chrX	71787745	71787745	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtcattttcttacttctttGcatgatgccaccctccagac	7	15	6	13	0	3	2	1	1	2	1	4	2	4	2	3	1	3	1	3	1	1	5			TCGA-CH-5790-01A-11D-1576-08	TCGA-CH-5790-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f1730f32-f97d-49e7-beb7-593c8ca8a907	c66f09bd-db15-4633-aeba-4f579345c6d0	g.chrX:71787745G>C	ENST00000439122.2	-	4	717	c.431C>G	c.(430-432)gCa>gGa	p.A144G	HDAC8_ENST00000373556.3_Missense_Mutation_p.A144G|HDAC8_ENST00000429103.2_Intron|HDAC8_ENST00000373560.2_Missense_Mutation_p.A144G|HDAC8_ENST00000478743.1_Intron|HDAC8_ENST00000373571.1_Missense_Mutation_p.A144G|HDAC8_ENST00000373583.1_Intron|HDAC8_ENST00000373561.4_Missense_Mutation_p.A144G|HDAC8_ENST00000373589.4_Intron|HDAC8_ENST00000373573.3_Missense_Mutation_p.A144G|HDAC8_ENST00000373554.1_Missense_Mutation_p.A144G|HDAC8_ENST00000373559.4_Intron	NM_001166419.1	NP_001159891.1	Q9BY41	HDAC8_HUMAN	histone deacetylase 8	144	Histone deacetylase.				chromatin assembly or disassembly|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nuclear chromosome	histone deacetylase activity (H3-K16 specific)|metal ion binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding	p.A144G(1)		breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1)	10	Renal(35;0.156)				Vorinostat(DB02546)	TTACTTCTTTGCATGATGCCA	0.418													11	122					0	0	1	0	0	C	71787745	G	C	71787745	3	2	29	1	0	0	0	0	1	0	0	0	7054	1319	46	4	820	4	HDAC8	23	71787745	Missense_Mutation	SNP	G	TCGA-CH-5790-01A-11D-1576-08		71787745	83482815	35	1656											
LCE5A	254910	broad.mit.edu	37	chr1	152484310	152484310	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagcagtctgggggctccagCtgctgccacagctctggggg	5	7	16	13	0	2	0	0	0	2	0	3	0	3	0	2	4	5	5	2	4	0	0			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr1:152484310C>G	ENST00000334269.2	+	2	476	c.300C>G	c.(298-300)agC>agG	p.S100R		NM_178438.4	NP_848525.1	Q5TCM9	LCE5A_HUMAN	late cornified envelope 5A	100	Cys-rich.				keratinization			p.S100R(1)		lung(3)|ovary(1)|prostate(3)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGGGCTCCAGCTGCTGCCACA	0.682													4	9					0	0	0.307466	0	0	G	152484310	C	G	152484310	3	3	30	1	0	0	0	0	1	0	0	0	8714	796	28	4	302	4	LCE5A	1	152484310	Missense_Mutation	SNP	C	TCGA-CH-5791-01A-11D-1576-08		152484310	96766311	1	1657											
CFHR5	81494	broad.mit.edu	37	chr1	196971637	196971637	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggaacaattctgcccaccGccacctcagatacctaatgc	12	7	7	15	1	2	1	1	0	1	1	2	2	2	2	5	1	4	0	5	1	4	3			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr1:196971637G>A	ENST00000367414.5	+	8	1301	c.1245G>A	c.(1243-1245)ccG>ccA	p.P415P	CFHR5_ENST00000256785.4_Silent_p.P391P	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	391	Sushi 7.				complement activation, alternative pathway	extracellular region		p.P391P(1)		NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TCTGCCCACCGCCACCTCAGA	0.348													7	79					0	0	0.307466	0	0	A	196971637	G	A	196971637	2	1	30	1	0	0	0	0	0	0	0	1	3310	1074	38	1		1	CFHR5	1	196971637	Silent	SNP	G	TCGA-CH-5791-01A-11D-1576-08	44487327	196971637	52278984	2	1658											
GALNT2	2590	broad.mit.edu	37	chr1	230338965	230338965	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcaggacccttacgcccgCaacaagttcaaccaggtgga	11	5	12	13	2	1	0	1	0	0	0	1	2	1	2	3	4	3	3	3	4	4	2			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr1:230338965C>T	ENST00000366672.4	+	3	375	c.303C>T	c.(301-303)cgC>cgT	p.R101R	GALNT2_ENST00000541865.1_Silent_p.R11R|GALNT2_ENST00000543760.1_Silent_p.R63R	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)	101					immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.R101R(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				CTTACGCCCGCAACAAGTTCA	0.552													6	224					0	0	0.248553	0	0	T	230338965	C	T	230338965	2	4	30	1	0	0	0	0	0	0	0	1	6253	697	25	2		2	GALNT2	1	230338965	Silent	SNP	C	TCGA-CH-5791-01A-11D-1576-08	33367328	230338965	18911656	3	1659											
CLIP4	79745	broad.mit.edu	37	chr2	29354154	29354154	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttgatcctaatgatgcatCatgccaggaaattctttttg	10	16	7	8	0	2	2	1	2	1	0	3	3	3	3	2	1	2	1	2	1	2	5			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr2:29354154C>T	ENST00000320081.5	+	3	419	c.164C>T	c.(163-165)tCa>tTa	p.S55L	CLIP4_ENST00000404424.1_Missense_Mutation_p.S55L|CLIP4_ENST00000401605.1_Missense_Mutation_p.S55L|CLIP4_ENST00000401617.2_5'UTR	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	55								p.S55L(1)		endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					AATGATGCATCATGCCAGGAA	0.274													42	99					0	0	0.827153	0	0	T	29354154	C	T	29354154	3	4	30	1	0	0	0	0	1	0	0	0	3558	838	29	2	170	2	CLIP4	2	29354154	Missense_Mutation	SNP	C	TCGA-CH-5791-01A-11D-1576-08		29354154	213845219	4	1660											
CEBPZ	10153	broad.mit.edu	37	chr2	37441066	37441066	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tactttcttcatctgcatccCgtttttgtttctctttaaca	6	21	3	11	1	4	0	1	0	3	0	6	0	5	0	1	0	3	3	1	0	2	8			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr2:37441066C>T	ENST00000234170.5	-	10	2631	c.2486G>A	c.(2485-2487)cGg>cAg	p.R829Q	AC007390.5_ENST00000438935.2_Intron	NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	829					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.R829Q(1)		breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				ATCTGCATCCCGTTTTTGTTT	0.269													9	42					0	0	0.307466	0	0	T	37441066	C	T	37441066	3	4	30	1	0	0	0	0	1	0	0	0	3226	652	23	1	706	1	CEBPZ	2	37441066	Missense_Mutation	SNP	C	TCGA-CH-5791-01A-11D-1576-08	8086912	37441066	205758307	5	1661											
LRP1B	53353	broad.mit.edu	37	chr2	141460073	141460073	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctctgagccatccaagcGagcctttccaatacagggca	10	9	8	14	1	1	1	0	1	1	0	4	2	3	1	4	1	4	1	4	1	3	3			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr2:141460073G>T	ENST00000389484.3	-	38	7044	c.6073C>A	c.(6073-6075)Cgc>Agc	p.R2025S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2025					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.R2025S(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCATCCAAGCGAGCCTTTCCA	0.408										TSP Lung(27;0.18)			51	86					1.11015e-26	1.37255e-26	0.870114	1	0	T	141460073	G	T	141460073	3	4	30	1	0	0	0	0	1	0	0	0	9000	1058	37	4	7942	4	LRP1B	2	141460073	Missense_Mutation	SNP	G	TCGA-CH-5791-01A-11D-1576-08	104019007	141460073	101739300	6	1662											
RAPH1	65059	broad.mit.edu	37	chr2	204304794	204304794	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acacacacccttgttggagaActccaggaaggttgactcca	12	8	9	12	0	0	2	0	1	0	1	2	4	2	3	3	3	1	2	3	3	2	3			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr2:204304794A>G	ENST00000319170.5	-	14	3418	c.3119T>C	c.(3118-3120)gTt>gCt	p.V1040A	RAPH1_ENST00000374493.3_Missense_Mutation_p.V1092A|RAPH1_ENST00000457812.1_Intron	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	1040					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane		p.V1040A(2)		breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTGTTGGAGAACTCCAGGAAG	0.537													53	100					0	0	0.870114	0	0	G	204304794	A	G	204304794	3	3	30	1	0	0	0	0	1	0	0	0	13102	43	2	3	637	3	RAPH1	2	204304794	Missense_Mutation	SNP	A	TCGA-CH-5791-01A-11D-1576-08	62844721	204304794	38894579	7	1663											
COL4A3	1285	broad.mit.edu	37	chr2	228155518	228155518	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtcgagcaggaagaccaggCctcccaggtattcatggtct	9	8	13	11	1	2	1	1	0	1	1	4	3	3	2	3	5	1	2	3	5	2	2			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr2:228155518C>A	ENST00000396578.3	+	37	3288	c.3126C>A	c.(3124-3126)ggC>ggA	p.G1042G	AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1042	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	p.G1042G(2)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GAAGACCAGGCCTCCCAGGTA	0.488													3	61					0.115264	0.126419	0.115264	1	0	A	228155518	C	A	228155518	2	1	30	1	0	0	0	0	0	0	0	1	3714	726	26	4		4	COL4A3	2	228155518	Silent	SNP	C	TCGA-CH-5791-01A-11D-1576-08	23850724	228155518	15043855	8	1664											
PID1	55022	broad.mit.edu	37	chr2	229890759	229890759	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttccagagctcaatgacTggcttttctgtgcagcctga	7	14	9	11	0	3	3	1	2	2	1	4	3	4	3	2	1	3	3	2	1	1	4			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr2:229890759T>A	ENST00000392054.3	-	4	675	c.336A>T	c.(334-336)ccA>ccT	p.P112P	PID1_ENST00000354069.6_Silent_p.P114P|PID1_ENST00000482518.2_Intron|PID1_ENST00000392055.3_Silent_p.P81P|PID1_ENST00000409462.1_Silent_p.P32P	NM_017933.4	NP_060403.3	Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	114	PID.					cytoplasm		p.P112P(1)		breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		GCTCAATGACTGGCTTTTCTG	0.532													10	88					0	0	0.38729	0	0	A	229890759	T	A	229890759	2	1	30	1	0	0	0	0	0	0	0	1	11930	1567	55	5		5	PID1	2	229890759	Silent	SNP	T	TCGA-CH-5791-01A-11D-1576-08	1735241	229890759	13308614	9	1665											
FILIP1L	11259	broad.mit.edu	37	chr3	99568295	99568295	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttttgcaggactgagtgaTctccctggaggtgacatatt	8	15	11	7	0	1	3	0	3	1	0	2	5	1	5	1	3	1	1	1	3	1	5			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr3:99568295T>G	ENST00000331335.5	-	5	2695	c.2225A>C	c.(2224-2226)gAt>gCt	p.D742A	CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000354552.3_Missense_Mutation_p.D742A|FILIP1L_ENST00000471562.1_Missense_Mutation_p.D502A|FILIP1L_ENST00000487087.1_Missense_Mutation_p.D318A|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000383694.2_Missense_Mutation_p.D502A|FILIP1L_ENST00000476723.1_Intron	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	742						cytoplasm|membrane|myosin complex|nucleus		p.D742A(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						GACTGAGTGATCTCCCTGGAG	0.408													10	393					0	0	0.361761	0	0	G	99568295	T	G	99568295	3	3	30	1	0	0	0	0	1	0	0	0	5928	1435	50	5	1211	5	FILIP1L	3	99568295	Missense_Mutation	SNP	T	TCGA-CH-5791-01A-11D-1576-08		99568295	98454135	10	1666											
BCL6	604	broad.mit.edu	37	chr3	187447645	187447645	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacaggccactgtacaggCtgggggcaaaggctctgctc	8	7	15	11	0	1	0	0	0	1	0	2	1	1	1	1	6	2	5	1	6	2	1			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr3:187447645C>T	ENST00000406870.2	-	5	914	c.548G>A	c.(547-549)aGc>aAc	p.S183N	RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.S183N|BCL6_ENST00000450123.2_Missense_Mutation_p.S183N|RP11-211G3.3_ENST00000449623.1_Intron	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	183					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S183N(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		ACTGTACAGGCTGGGGGCAAA	0.602			"T, Mis"	"IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"	"NHL, CLL"								30	38					0	0	0.740014	0	0	T	187447645	C	T	187447645	3	4	30	1	0	0	0	0	1	0	0	0	1374	797	28	2	1596	2	BCL6	3	187447645	Missense_Mutation	SNP	C	TCGA-CH-5791-01A-11D-1576-08	87879350	187447645	10574785	11	1667											
GRXCR1	389207	broad.mit.edu	37	chr4	42895345	42895345	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagtccggtttcggatcgCgtcctctcacagtgggcgag	7	9	14	11	5	1	0	1	0	1	0	6	3	3	1	2	3	0	1	2	3	1	1			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr4:42895345C>T	ENST00000399770.2	+	1	62	c.62C>T	c.(61-63)gCg>gTg	p.A21V		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	21					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity	p.A21V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						TTTCGGATCGCGTCCTCTCAC	0.507													45	103					0	0	0.870114	0	0	T	42895345	C	T	42895345	3	4	30	1	0	0	0	0	1	0	0	0	6853	768	27	1	64	1	GRXCR1	4	42895345	Missense_Mutation	SNP	C	TCGA-CH-5791-01A-11D-1576-08		42895345	148258931	12	1668											
PPEF2	5470	broad.mit.edu	37	chr4	76813087	76813087	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcatctccaggcgggccaCgtagcgccggtaccatctct	6	8	10	17	4	3	0	1	0	2	0	5	0	3	0	5	3	2	2	5	3	2	2			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr4:76813087C>T	ENST00000286719.7	-	3	456	c.100G>A	c.(100-102)Gtg>Atg	p.V34M	PPEF2_ENST00000510607.1_5'UTR	NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	34	IQ.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity	p.V34M(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			AGGCGGGCCACGTAGCGCCGG	0.582													22	79					0	0	0.639603	0	0	T	76813087	C	T	76813087	3	4	30	1	0	0	0	0	1	0	0	0	12353	536	19	1	2221	1	PPEF2	4	76813087	Missense_Mutation	SNP	C	TCGA-CH-5791-01A-11D-1576-08	33917742	76813087	114341189	13	1669											
FRAS1	80144	broad.mit.edu	37	chr4	79343065	79343065	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcctatccggtatttcaCgcaagaggatattaaccagg	11	11	8	11	2	2	1	1	0	1	1	4	2	3	2	3	3	1	2	3	3	5	5			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr4:79343065C>T	ENST00000264895.6	+	34	5029	c.4589C>T	c.(4588-4590)aCg>aTg	p.T1530M	FRAS1_ENST00000325942.6_Missense_Mutation_p.T1530M	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1529					cell communication	integral to membrane|plasma membrane	metal ion binding	p.T1530M(4)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CGGTATTTCACGCAAGAGGAT	0.547													93	226					0	0	0.870114	0	0	T	79343065	C	T	79343065	3	4	30	1	0	0	0	0	1	0	0	0	6076	536	19	1	4723	1	FRAS1	4	79343065	Missense_Mutation	SNP	C	TCGA-CH-5791-01A-11D-1576-08	2529978	79343065	111811211	14	1670											
PCDHGB3	0	broad.mit.edu	37	chr5	140751730	140751739	+	Frame_Shift_Del	DEL	AGGTGGTGGC	AGGTGGTGGC	-																															gcctggctacctggtgaccaAggtggtggcggtggacgcag																										TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr5:140751730_140751739delAGGTGGTGGC	ENST00000576222.1	+	1	1900_1909	c.1769_1778delAGGTGGTGGC	c.(1768-1779)agfs	p.KVVA590fs	PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTGACCAAGGTGGTGGCGGTGGACGCA	0.657													20	81	---	---	---	---						-	140751739	AGGTGGTGGC	-	140751730	7	5	30	1	0	1	0	1	0	0	0	0	11611	72	3	0	1771	0	PCDHGB3	5	140751730	Frame_Shift_Del	DEL	AGGTGGTGGC	TCGA-CH-5791-01A-11D-1576-08		140751730	40163530	15	1671											
PLG	5340	broad.mit.edu	37	chr6	161139389	161139389	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaacaggtgaaaactatcGcgggaatgtggctgttaccg	11	8	15	7	3	0	1	0	1	0	0	1	3	0	3	1	4	3	2	1	4	6	2			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr6:161139389G>A	ENST00000308192.9	+	8	914	c.851G>A	c.(850-852)cGc>cAc	p.R284H		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	284	Kringle 3.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	p.R284H(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GAAAACTATCGCGGGAATGTG	0.493													40	170					0	0	0.859065	0	0	A	161139389	G	A	161139389	3	1	30	1	0	0	0	0	1	0	0	0	12134	1087	38	1	885	1	PLG	6	161139389	Missense_Mutation	SNP	G	TCGA-CH-5791-01A-11D-1576-08		161139389	9975678	16	1672											
INHBA	3624	broad.mit.edu	37	chr7	41739653	41739653	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcatttctgccctccttccaAtgtcatcctctatctccaca	7	15	2	17	0	5	0	2	0	3	0	9	0	8	0	5	0	1	0	5	0	2	3			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr7:41739653A>T	ENST00000242208.4	-	2	566	c.320T>A	c.(319-321)aTt>aAt	p.I107N	INHBA_ENST00000442711.1_Missense_Mutation_p.I107N|INHBA-AS1_ENST00000420821.1_RNA|INHBA-AS1_ENST00000422822.1_RNA|AC005027.3_ENST00000416150.1_RNA|INHBA-AS1_ENST00000415848.2_RNA	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	107					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	p.I107N(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CCTCCTTCCAATGTCATCCTC	0.562										TSP Lung(11;0.080)			19	758					0	0	0.575678	0	0	T	41739653	A	T	41739653	3	4	30	1	0	0	0	0	1	0	0	0	7785	101	4	5	968	5	INHBA	7	41739653	Missense_Mutation	SNP	A	TCGA-CH-5791-01A-11D-1576-08		41739653	117399010	17	1673											
ZKSCAN5	23660	broad.mit.edu	37	chr7	99110202	99110202	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccacagaagcctcgtctcCtggaggaaaatggtgaggct	10	7	13	11	2	1	2	0	1	1	1	3	4	1	4	3	4	1	1	3	4	3	0			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr7:99110202C>G	ENST00000394170.2	+	3	792	c.541C>G	c.(541-543)Ctg>Gtg	p.L181V	ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.L181V|ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.L181V	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	181					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L181V(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GCCTCGTCTCCTGGAGGAAAA	0.587													20	35					0	0	0.592651	0	0	G	99110202	C	G	99110202	3	3	30	1	0	0	0	0	1	0	0	0	17748	680	24	4	547	4	ZKSCAN5	7	99110202	Missense_Mutation	SNP	C	TCGA-CH-5791-01A-11D-1576-08	57370549	99110202	60028461	18	1674											
SSPO	23145	broad.mit.edu	37	chr7	149526028	149526028	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actctctccctctgcagggcGaggagatggtgctggagcca	7	8	14	12	1	2	1	0	0	2	1	4	4	3	2	2	4	3	2	2	4	0	0			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr7:149526028G>A	ENST00000378016.2	+	0	15085							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TCTGCAGGGCGAGGAGATGGT	0.667													8	6					0	0	0.307466	0	0	A	149526028	G	A	149526028	1	1	30	0	1	0	0	0	0	0	0	0	15245	1059	37	1		1	SSPO	7	149526028	RNA	SNP	G	TCGA-CH-5791-01A-11D-1576-08	50415826	149526028	9612635	19	1675											
ZFHX4	79776	broad.mit.edu	37	chr8	77764257	77764257	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcagatgcaactacagcaCgaattacaacagcaagccgc	16	6	7	12	2	1	1	1	0	0	1	1	2	1	1	1	0	8	3	1	0	6	3			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr8:77764257C>T	ENST00000521891.2	+	10	5548	c.5100C>T	c.(5098-5100)caC>caT	p.H1700H	ZFHX4_ENST00000518282.1_Silent_p.H1674H|ZFHX4_ENST00000455469.2_Silent_p.H1655H|ZFHX4_ENST00000050961.6_Silent_p.H1655H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1655	Gln-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.H1700H(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AACTACAGCACGAATTACAAC	0.443										HNSCC(33;0.089)			24	96					0	0	0.654019	0	0	T	77764257	C	T	77764257	2	4	30	1	0	0	0	0	0	0	0	1	17693	535	19	1		1	ZFHX4	8	77764257	Silent	SNP	C	TCGA-CH-5791-01A-11D-1576-08		77764257	68599765	20	1676											
RSPO2	340419	broad.mit.edu	37	chr8	109001381	109001383	+	In_Frame_Del	DEL	GAA	GAA	-																															cgcatcccttctcttcgaagGaagaagaacaacttctgttg																										TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr8:109001381_109001383delGAA	ENST00000276659.5	-	3	804_806	c.184_186delTTC	c.(184-186)del	p.F62del	RSPO2_ENST00000517781.1_Intron|RSPO2_ENST00000378439.2_Intron|RSPO2_ENST00000517939.1_5'UTR	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	62					Wnt receptor signaling pathway	extracellular region	heparin binding	p.F62S(1)	EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			CTCTTCGAAGGAAGAAGAACAAC	0.468													47	108	---	---	---	---						-	109001383	GAA	-	109001381	7	5	30	1	0	1	0	1	0	0	0	0	13762	1165	41	0	561	0	RSPO2	8	109001381	In_Frame_Del	DEL	GAA	TCGA-CH-5791-01A-11D-1576-08	31237124	109001381	37362641	21	1677											
KCNQ3	3786	broad.mit.edu	37	chr8	133196585	133196585	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagatcctcaaagcaaactcGgctccaaagatgaaaatagc	17	6	7	11	1	1	3	1	1	0	2	4	3	3	3	2	1	3	2	2	1	6	1			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr8:133196585G>A	ENST00000388996.4	-	3	927	c.507C>T	c.(505-507)gcC>gcT	p.A169A	KCNQ3_ENST00000521134.1_Silent_p.A49A|KCNQ3_ENST00000519445.1_Silent_p.A169A	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	169					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.A169A(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			AAGCAAACTCGGCTCCAAAGA	0.512													49	80					0	0	0.864702	0	0	A	133196585	G	A	133196585	2	1	30	1	0	0	0	0	0	0	0	1	8128	1103	39	1		1	KCNQ3	8	133196585	Silent	SNP	G	TCGA-CH-5791-01A-11D-1576-08	24195204	133196585	13167437	22	1678											
FANCG	2189	broad.mit.edu	37	chr9	35076446	35076446	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacctccccgtctgtaggcaCctgcttgctagtatgtgctt	5	13	9	14	1	1	0	0	0	1	0	2	0	2	0	4	1	3	6	4	1	3	5			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr9:35076446C>A	ENST00000378643.3	-	8	1550	c.1059G>T	c.(1057-1059)agG>agT	p.R353S	FANCG_ENST00000476212.1_Intron	NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	353					cell cycle checkpoint|DNA repair|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding	p.R353S(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TCTGTAGGCACCTGCTTGCTA	0.532			"Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks					9	105					0.000442599	0.000501613	0.335167	1	0	A	35076446	C	A	35076446	3	1	30	1	0	0	0	0	1	0	0	0	5701	506	18	4	837	4	FANCG	9	35076446	Missense_Mutation	SNP	C	TCGA-CH-5791-01A-11D-1576-08		35076446	106136985	23	1679											
SMC2	10592	broad.mit.edu	37	chr9	106889711	106889711	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcttaaaattaaggaattaGaccacaacatcagcaaacat	20	8	5	8	0	1	1	1	0	0	1	1	2	1	2	1	1	4	2	1	1	7	3			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr9:106889711G>A	ENST00000286398.7	+	20	3028	c.2740G>A	c.(2740-2742)Gac>Aac	p.D914N	SMC2_ENST00000374793.3_Missense_Mutation_p.D914N|SMC2_ENST00000303219.8_Missense_Mutation_p.D914N|SMC2_ENST00000374787.3_Missense_Mutation_p.D914N	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	914					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity	p.D914N(2)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						TAAGGAATTAGACCACAACAT	0.363													53	82					0	0	0.870114	0	0	A	106889711	G	A	106889711	3	1	30	1	0	0	0	0	1	0	0	0	14837	942	33	2	2814	2	SMC2	9	106889711	Missense_Mutation	SNP	G	TCGA-CH-5791-01A-11D-1576-08	71813265	106889711	34323720	24	1680											
UBAC1	10422	broad.mit.edu	37	chr9	138837764	138837764	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaagggccttggtggctctGttctccggaaagcccatctc	6	11	12	12	1	3	1	0	1	3	0	5	2	3	2	3	4	1	2	3	4	2	2			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr9:138837764G>C	ENST00000371756.3	-	6	841	c.624C>G	c.(622-624)aaC>aaG	p.N208K		NM_016172.2	NP_057256.2	Q9BSL1	UBAC1_HUMAN	UBA domain containing 1	208	UBA 1.					Golgi apparatus|plasma membrane	protein binding	p.N208K(1)		NS(1)|biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06)		TGGTGGCTCTGTTCTCCGGAA	0.662													14	46					0	0	0.457914	0	0	C	138837764	G	C	138837764	3	2	30	1	0	0	0	0	1	0	0	0	16895	1368	48	4	613	4	UBAC1	9	138837764	Missense_Mutation	SNP	G	TCGA-CH-5791-01A-11D-1576-08	31948053	138837764	2375667	25	1681											
PTEN	5728	broad.mit.edu	37	chr10	89690802	89690802	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acttttaaacttttcttttaGttgtgctgaaagacattatg	11	19	6	5	0	1	2	0	1	1	1	1	2	1	2	0	0	2	2	0	0	5	8			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr10:89690802G>A	ENST00000371953.3	+	4	1566		c.e4-1			NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog						activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(9)|p.R55fs*1(5)|p.L70fs*7(2)|p.Y27fs*1(2)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TTTTCTTTTAGTTGTGCTGAA	0.303		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			32	23					0	0	0.769981	0	0	A	89690802	G	A	89690802	5	1	30	1	0	0	0	0	0	0	1	0	12787	1043	36	2	223	2	PTEN	10	89690802	Splice_Site	SNP	G	TCGA-CH-5791-01A-11D-1576-08		89690802	45843945	26	1682											
CRTAC1	55118	broad.mit.edu	37	chr10	99642555	99642555	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caactcacccatgcaatggcCattttcctgctgggagaatc	10	10	8	13	0	1	1	1	0	0	1	3	2	2	1	3	2	3	2	3	2	3	2			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr10:99642555C>A	ENST00000370597.3	-	13	2018	c.1663G>T	c.(1663-1665)Ggc>Tgc	p.G555C	CRTAC1_ENST00000298819.4_Intron|CRTAC1_ENST00000370591.2_Missense_Mutation_p.G555C|CRTAC1_ENST00000468549.1_5'UTR	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	555						proteinaceous extracellular matrix	calcium ion binding	p.G555C(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		ATGCAATGGCCATTTTCCTGC	0.577													17	33					0.000958276	0.00106824	0.557998	1	0	A	99642555	C	A	99642555	3	1	30	1	0	0	0	0	1	0	0	0	3919	594	21	4	334	4	CRTAC1	10	99642555	Missense_Mutation	SNP	C	TCGA-CH-5791-01A-11D-1576-08	9951753	99642555	35892192	27	1683											
ENTPD7	57089	broad.mit.edu	37	chr10	101455823	101455823	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttctgggtttcggaggcaaCtttgcccggcagcgctacga	6	11	13	11	4	1	0	0	0	1	0	2	2	1	1	1	4	4	4	1	4	2	4			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr10:101455823C>T	ENST00000370489.4	+	9	1132	c.954C>T	c.(952-954)aaC>aaT	p.N318N		NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	318						cytoplasmic vesicle membrane|integral to membrane	hydrolase activity	p.N318N(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		TCGGAGGCAACTTTGCCCGGC	0.453													11	169					0	0	0.411799	0	0	T	101455823	C	T	101455823	2	4	30	1	0	0	0	0	0	0	0	1	5172	564	20	2		2	ENTPD7	10	101455823	Silent	SNP	C	TCGA-CH-5791-01A-11D-1576-08	1813268	101455823	34078924	28	1684											
TLX1	3195	broad.mit.edu	37	chr10	102896459	102896459	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccggtgcagacggcagactgCggaggaacgggaggccgaga	10	2	19	10	5	0	3	0	0	0	3	0	7	0	6	2	6	3	2	2	6	1	0			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr10:102896459C>G	ENST00000370196.6	+	3	2824	c.782C>G	c.(781-783)gCg>gGg	p.A261G	TLX1_ENST00000467928.2_3'UTR|RP11-31L23.3_ENST00000411459.1_RNA			P31314	TLX1_HUMAN	T-cell leukemia homeobox 1	261						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A261G(1)		breast(1)|upper_aerodigestive_tract(1)	2				Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		CGGCAGACTGCGGAGGAACGG	0.652			T	"TRB@, TRD@"	T-ALL								5	64					0	0	0.184627	0	0	G	102896459	C	G	102896459	3	3	30	1	0	0	0	0	1	0	0	0	16019	768	27	4	792	4	TLX1	10	102896459	Missense_Mutation	SNP	C	TCGA-CH-5791-01A-11D-1576-08	1440636	102896459	32638288	29	1685											
NAV2	89797	broad.mit.edu	37	chr11	20101630	20101630	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaacggcactgcccagtctGcagacctccgcatccgcagg	9	5	11	16	3	1	1	0	0	1	1	3	2	3	1	4	2	3	4	4	2	1	0			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr11:20101630G>T	ENST00000396085.1	+	25	5561	c.5200G>T	c.(5200-5202)Gca>Tca	p.A1734S	NAV2_ENST00000360655.4_Missense_Mutation_p.A1670S|NAV2_ENST00000311043.8_Missense_Mutation_p.A798S|NAV2_ENST00000349880.4_Missense_Mutation_p.A1734S|NAV2_ENST00000527559.2_Missense_Mutation_p.A1719S|NAV2_ENST00000533917.1_Missense_Mutation_p.A798S|NAV2_ENST00000396087.3_Missense_Mutation_p.A1790S|NAV2_ENST00000540292.1_Missense_Mutation_p.A1721S	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1790						nucleus	ATP binding|helicase activity	p.A1790S(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TGCCCAGTCTGCAGACCTCCG	0.562													13	39					1.5842e-08	1.88992e-08	0.435327	1	0	T	20101630	G	T	20101630	3	4	30	1	0	0	0	0	1	0	0	0	10232	1319	46	4	5407	4	NAV2	11	20101630	Missense_Mutation	SNP	G	TCGA-CH-5791-01A-11D-1576-08		20101630	114904886	30	1686											
TCN1	6947	broad.mit.edu	37	chr11	59633903	59633903	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttggaataaaagaaaacAgtaagagccccactaggggc	16	5	12	8	0	0	2	0	0	0	2	0	3	0	3	2	4	2	2	2	4	7	4			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr11:59633903A>G	ENST00000257264.3	-	1	145	c.41T>C	c.(40-42)cTg>cCg	p.L14P	TCN1_ENST00000532419.1_5'UTR	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	14					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding	p.L14P(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAAAGAAAACAGTAAGAGCCC	0.413													49	109					0	0	0.870114	0	0	G	59633903	A	G	59633903	3	3	30	1	0	0	0	0	1	0	0	0	15766	188	7	3	1296	3	TCN1	11	59633903	Missense_Mutation	SNP	A	TCGA-CH-5791-01A-11D-1576-08	39532273	59633903	75372613	31	1687											
EML3	256364	broad.mit.edu	37	chr11	62378665	62378665	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttcagattgggtcccgctagGctcttcgctggccccctgag	4	11	12	14	2	2	2	1	1	1	1	4	2	3	2	3	3	0	3	3	3	1	4			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr11:62378665G>A	ENST00000394773.2	-	3	653	c.346C>T	c.(346-348)Cct>Tct	p.P116S	EML3_ENST00000529309.1_Missense_Mutation_p.P116S|EML3_ENST00000494176.2_Missense_Mutation_p.P88S|EML3_ENST00000278845.4_Missense_Mutation_p.P117S	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	116						cytoplasm|microtubule	protein binding	p.P116S(1)		biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GTCCCGCTAGGCTCTTCGCTG	0.697													4	30					0	0	0.150653	0	0	A	62378665	G	A	62378665	3	1	30	1	0	0	0	0	1	0	0	0	5126	1203	42	2	2424	2	EML3	11	62378665	Missense_Mutation	SNP	G	TCGA-CH-5791-01A-11D-1576-08	2744762	62378665	72627851	32	1688											
MAML2	84441	broad.mit.edu	37	chr11	95712225	95712225	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agcatcactgtttagggcagGgcccatgttatcattttgtt	8	15	10	8	0	2	0	2	0	0	0	2	0	2	0	1	2	1	5	1	2	2	6			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr11:95712225G>A	ENST00000524717.1	-	5	4642	c.3358C>T	c.(3358-3360)Cct>Tct	p.P1120S		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	1120					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	p.P1120S(1)	CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				TTTAGGGCAGGGCCCATGTTA	0.423			T	"MECT1, CRTC3"	salivary gland mucoepidermoid								27	133					0	0	0.717897	0	0	A	95712225	G	A	95712225	3	1	30	1	0	0	0	0	1	0	0	0	9256	1232	43	2	116	2	MAML2	11	95712225	Missense_Mutation	SNP	G	TCGA-CH-5791-01A-11D-1576-08	33333560	95712225	39294291	33	1689											
SIDT2	51092	broad.mit.edu	37	chr11	117052139	117052139	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtcgttctgcagacagaggGcgtgcgtgtgtctgtgaacg	6	11	16	8	4	2	3	0	1	2	2	3	3	2	3	0	1	3	2	0	1	1	1			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr11:117052139G>C	ENST00000324225.4	+	2	722	c.191G>C	c.(190-192)gGc>gCc	p.G64A	SIDT2_ENST00000431081.2_Missense_Mutation_p.G64A	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	64						integral to membrane|lysosomal membrane		p.G64A(1)		NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		CAGACAGAGGGCGTGCGTGTG	0.597											OREG0021368	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	42					0	0	0.184627	0	0	C	117052139	G	C	117052139	3	2	30	1	0	0	0	0	1	0	0	0	14358	1203	42	4	197	4	SIDT2	11	117052139	Missense_Mutation	SNP	G	TCGA-CH-5791-01A-11D-1576-08	21339914	117052139	17954377	34	1690											
CCDC15	80071	broad.mit.edu	37	chr11	124857794	124857794	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaatattctacccaaatgtCaggaccaggattttctaccc	12	11	7	11	0	3	0	1	0	2	0	3	3	3	3	3	3	2	0	3	3	5	6			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr11:124857794C>T	ENST00000529051.1	+	8	1931	c.1672C>T	c.(1672-1674)Cag>Tag	p.Q558*	CCDC15_ENST00000344762.5_Nonsense_Mutation_p.Q558*			Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	558						centrosome		p.Q558*(2)		central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		ACCCAAATGTCAGGACCAGGA	0.433													16	481					0	0	0.539581	0	0	T	124857794	C	T	124857794	4	4	30	1	0	0	0	0	0	1	0	0	2802	827	29	2	1698	2	CCDC15	11	124857794	Nonsense_Mutation	SNP	C	TCGA-CH-5791-01A-11D-1576-08	7805655	124857794	10148722	35	1691											
ZNF641	121274	broad.mit.edu	37	chr12	48737263	48737263	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaaccccatacaaactgtttCccacactgggggcatgtgtg	10	9	10	12	0	0	0	0	0	0	0	1	1	1	0	3	2	3	2	3	2	3	2			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr12:48737263C>A	ENST00000544117.2	-	6	1518	c.810G>T	c.(808-810)ggG>ggT	p.G270G	ZNF641_ENST00000448928.3_Silent_p.G247G|ZNF641_ENST00000547026.1_Silent_p.G256G|ZNF641_ENST00000301042.3_Silent_p.G270G			Q96N77	ZN641_HUMAN	zinc finger protein 641	270					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.G270G(1)		breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						CAAACTGTTTCCCACACTGGG	0.527													6	123					2.0095e-06	2.35596e-06	0.248553	1	0	A	48737263	C	A	48737263	2	1	30	1	0	0	0	0	0	0	0	1	18114	842	30	4		4	ZNF641	12	48737263	Silent	SNP	C	TCGA-CH-5791-01A-11D-1576-08		48737263	85114632	36	1692											
INHBC	3626	broad.mit.edu	37	chr12	57843267	57843267	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtacctgctggaggtggatgCcagtggctggcatcaactcc	7	9	14	11	0	1	0	1	0	0	0	2	2	2	2	3	5	4	4	3	5	2	1			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr12:57843267C>T	ENST00000309668.2	+	2	648	c.521C>T	c.(520-522)gCc>gTc	p.A174V	INHBC_ENST00000550133.1_Missense_Mutation_p.A174V	NM_005538.2	NP_005529.1	P55103	INHBC_HUMAN	inhibin, beta C	174					growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding	p.A174V(1)		breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						GAGGTGGATGCCAGTGGCTGG	0.577													4	124					0	0	0.150653	0	0	T	57843267	C	T	57843267	3	4	30	1	0	0	0	0	1	0	0	0	7787	739	26	2	527	2	INHBC	12	57843267	Missense_Mutation	SNP	C	TCGA-CH-5791-01A-11D-1576-08	9106004	57843267	76008628	37	1693											
ANO4	121601	broad.mit.edu	37	chr12	101433785	101433785	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccatggagcagaaaaccaccGacatctactctatgagtgct	13	8	8	12	1	2	2	0	1	2	1	2	4	2	3	3	1	4	2	3	1	4	2			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr12:101433785G>A	ENST00000392979.3	+	10	1206	c.845G>A	c.(844-846)cGa>cAa	p.R282Q	ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392977.3_Missense_Mutation_p.R317Q	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	317						chloride channel complex	chloride channel activity	p.R282Q(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GAAAACCACCGACATCTACTC	0.438										HNSCC(74;0.22)			104	249					0	0	0.870114	0	0	A	101433785	G	A	101433785	3	1	30	1	0	0	0	0	1	0	0	0	693	1058	37	1	879	1	ANO4	12	101433785	Missense_Mutation	SNP	G	TCGA-CH-5791-01A-11D-1576-08	43590518	101433785	32418110	38	1694											
DAO	1610	broad.mit.edu	37	chr12	109290787	109290787	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctgaatcaacaggtggaCgccccttggatgaagcactt	10	8	11	12	1	1	2	1	2	0	0	1	4	1	4	3	3	2	1	3	3	3	2			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr12:109290787C>T	ENST00000228476.3	+	8	822	c.618C>T	c.(616-618)gaC>gaT	p.D206D	DAO_ENST00000551281.1_Silent_p.D140D	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase	206					glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity	p.D206D(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						AACAGGTGGACGCCCCTTGGA	0.547													34	55					0	0	0.796494	0	0	T	109290787	C	T	109290787	2	4	30	1	0	0	0	0	0	0	0	1	4255	535	19	1		1	DAO	12	109290787	Silent	SNP	C	TCGA-CH-5791-01A-11D-1576-08	7857002	109290787	24561108	39	1695											
GCN1L1	10985	broad.mit.edu	37	chr12	120615277	120615277	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacattctctggactcctcaGtaaggacttctgtatggtgg	9	13	10	9	0	3	0	1	0	2	0	5	2	4	2	1	4	1	2	1	4	3	4			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr12:120615277G>A	ENST00000300648.6	-	9	823	c.811C>T	c.(811-813)Ctg>Ttg	p.L271L		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	271					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding	p.L271L(1)		NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGACTCCTCAGTAAGGACTTC	0.448													19	66					0	0	0.557998	0	0	A	120615277	G	A	120615277	2	1	30	1	0	0	0	0	0	0	0	1	6339	1020	36	2		2	GCN1L1	12	120615277	Silent	SNP	G	TCGA-CH-5791-01A-11D-1576-08	11324490	120615277	13236618	40	1696											
B3GNT4	79369	broad.mit.edu	37	chr12	122691205	122691209	+	Frame_Shift_Del	DEL	CTATC	CTATC	-																															tcacgtggagcgacgtgcggCtatccgcagcacgtggggca																										TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr12:122691205_122691209delCTATC	ENST00000535274.1	+	1	2059_2063	c.332_336delCTATC	c.(331-336)gfs	p.AI111fs	B3GNT4_ENST00000545141.1_Intron|B3GNT4_ENST00000546192.1_Frame_Shift_Del_p.AI111fs|B3GNT4_ENST00000324189.4_Frame_Shift_Del_p.AI136fs			Q9C0J1	B3GN4_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4	136					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity	p.I137M(1)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)		CGACGTGCGGCTATCCGCAGCACGT	0.629													9	169	---	---	---	---						-	122691209	CTATC	-	122691205	7	5	30	1	0	1	0	1	0	0	0	0	1257	797	28	0	413	0	B3GNT4	12	122691205	Frame_Shift_Del	DEL	CTATC	TCGA-CH-5791-01A-11D-1576-08	2075928	122691205	11160690	41	1697			1	7		2	2	16	N	CTATC_-	2.61652e-05
B3GNT4	79369	broad.mit.edu	37	chr12	122691220	122691221	+	Frame_Shift_Ins	INS	-	-	CT																															gcggctatccgcagcacgtgINSgggcagggtggggggatggg																										TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr12:122691220_122691221insCT	ENST00000535274.1	+	1	2074_2075	c.347_348insCT	c.(346-348)tggfs	p.W116fs	B3GNT4_ENST00000545141.1_Intron|B3GNT4_ENST00000546192.1_Frame_Shift_Ins_p.W116fs|B3GNT4_ENST00000324189.4_Frame_Shift_Ins_p.W141fs			Q9C0J1	B3GN4_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4	141					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)		CGCAGCACGTGGGGCAGGGTGG	0.644													22	131	---	---	---	---						CT	122691221	-	CT	122691220	7	5	30	1	0	1	1	0	0	0	0	0	1257	1357	47	0	428	0	B3GNT4	12	122691220	Frame_Shift_Ins	INS	-	TCGA-CH-5791-01A-11D-1576-08	15	122691220	11160675	42	1698			1	7		2	2	16	N	CTATC_-	2.61652e-05
GPR133	283383	broad.mit.edu	37	chr12	131593399	131593399	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcggaggacagcaagcaccGttactactatgggatgggat	11	8	14	8	2	0	0	0	0	0	0	1	4	0	4	1	4	4	3	1	4	4	3	rs141128784		TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr12:131593399G>A	ENST00000261654.5	+	18	2577	c.2018G>A	c.(2017-2019)cGt>cAt	p.R673H	GPR133_ENST00000543617.1_Missense_Mutation_p.R192H|GPR133_ENST00000535015.1_Missense_Mutation_p.R705H|GPR133_ENST00000376682.4_Missense_Mutation_p.R359H	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	673					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R673H(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		AGCAAGCACCGTTACTACTat	0.607													26	163					0	0	0.654019	0	0	A	131593399	G	A	131593399	3	1	30	1	0	0	0	0	1	0	0	0	6683	1145	40	1	2088	1	GPR133	12	131593399	Missense_Mutation	SNP	G	TCGA-CH-5791-01A-11D-1576-08	8902179	131593399	2258496	43	1699											
METTL3	56339	broad.mit.edu	37	chr14	21971365	21971365	+	Nonstop_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttggttcagaaggctctctAtctccagatcaacatctgag	10	12	9	10	0	5	3	2	1	3	2	7	3	5	3	1	2	1	3	1	2	3	3			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr14:21971365A>C	ENST00000538267.1	-	4	576	c.460T>G	c.(460-462)Tag>Gag	p.*154E	METTL3_ENST00000298717.4_Missense_Mutation_p.I225R			Q86U44	MTA70_HUMAN	methyltransferase like 3	0					gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding	p.I225R(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		AAGGCTCTCTATCTCCAGATC	0.443													97	210					0	0	0.870114	0	0	C	21971365	A	C	21971365	4	2	30	1	0	0	0	0	0	0	0	0	9551	449	16	5	1104	5	METTL3	14	21971365	Nonstop_Mutation	SNP	A	TCGA-CH-5791-01A-11D-1576-08		21971365	85378175	44	1700											
LRRC16B	90668	broad.mit.edu	37	chr14	24530760	24530760	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttatgccctgtggccatgCgggtggccgagggacacaac	8	7	15	11	2	0	0	0	0	0	0	0	2	0	1	3	4	3	1	3	4	2	1			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr14:24530760C>T	ENST00000342740.5	+	27	2513	c.2359C>T	c.(2359-2361)Cgg>Tgg	p.R787W	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	787								p.R787W(3)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		TGTGGCCATGCGGGTGGCCGA	0.612													3	62					0	0	0.115264	0	0	T	24530760	C	T	24530760	3	4	30	1	0	0	0	0	1	0	0	0	9017	759	27	1	2465	1	LRRC16B	14	24530760	Missense_Mutation	SNP	C	TCGA-CH-5791-01A-11D-1576-08	2559395	24530760	82818780	45	1701											
SPSB3	90864	broad.mit.edu	37	chr16	1831441	1831441	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtctcggcgggctgcactcAggacgaagtgccaggccctg	6	6	15	14	4	2	0	1	0	1	0	3	2	2	1	2	4	2	2	2	4	1	0			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr16:1831441A>G	ENST00000566339.1	-	2	374	c.44T>C	c.(43-45)cTg>cCg	p.L15P	SPSB3_ENST00000301717.4_Missense_Mutation_p.L15P	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box containing 3	15					intracellular signal transduction			p.L15P(1)		endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						GGCTGCACTCAGGACGAAGTG	0.617													16	19					0	0	0.500413	0	0	G	1831441	A	G	1831441	3	3	30	1	0	0	0	0	1	0	0	0	15170	188	7	3	1047	3	SPSB3	16	1831441	Missense_Mutation	SNP	A	TCGA-CH-5791-01A-11D-1576-08		1831441	88523312	46	1702											
CCDC135	84229	broad.mit.edu	37	chr16	57756742	57756742	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccgcctcaccacctatgAggacttgcagtgtaaggggg	9	7	14	11	1	1	1	1	1	0	0	1	3	1	2	4	3	2	2	4	3	2	3			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr16:57756742A>G	ENST00000360716.3	+	11	1618	c.1397A>G	c.(1396-1398)gAg>gGg	p.E466G	CCDC135_ENST00000394337.4_Missense_Mutation_p.E466G|CCDC135_ENST00000336825.8_Missense_Mutation_p.E401G			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	466						cytoplasm		p.E466G(1)		breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						ACCACCTATGAGGACTTGCAG	0.597													3	75					0	0	0.115264	0	0	G	57756742	A	G	57756742	3	3	30	1	0	0	0	0	1	0	0	0	2787	304	11	3	1431	3	CCDC135	16	57756742	Missense_Mutation	SNP	A	TCGA-CH-5791-01A-11D-1576-08	55925301	57756742	32598011	47	1703											
ZZEF1	23140	broad.mit.edu	37	chr17	3992020	3992020	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaagggtcctgaggagcaaCgtggccccacagacactctc	10	6	12	13	1	1	3	0	2	1	1	3	4	2	4	3	3	2	1	3	3	2	0			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr17:3992020C>T	ENST00000381638.2	-	13	2317	c.2193G>A	c.(2191-2193)acG>acA	p.T731T	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	731							calcium ion binding|zinc ion binding	p.T731T(1)		central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TGAGGAGCAACGTGGCCCCAC	0.547													8	57					0	0	0.307466	0	0	T	3992020	C	T	3992020	2	4	30	1	0	0	0	0	0	0	0	1	18295	523	19	1		1	ZZEF1	17	3992020	Silent	SNP	C	TCGA-CH-5791-01A-11D-1576-08		3992020	77203190	48	1704											
AFG3L2	10939	broad.mit.edu	37	chr18	12340252	12340252	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtcatcttgagcaccagttGtaattcttccaaagaagatt	13	13	7	8	0	3	3	1	1	2	2	4	3	4	3	2	0	1	3	2	0	3	6			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr18:12340252G>T	ENST00000269143.3	-	15	2159	c.1928C>A	c.(1927-1929)aCa>aAa	p.T643K		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	643					cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	p.T643K(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	AGCACCAGTTGTAATTCTTCC	0.393													10	272					2.17888e-05	2.51125e-05	0.335167	1	0	T	12340252	G	T	12340252	3	4	30	1	0	0	0	0	1	0	0	0	359	1377	48	4	477	4	AFG3L2	18	12340252	Missense_Mutation	SNP	G	TCGA-CH-5791-01A-11D-1576-08		12340252	65736996	49	1705											
SLC5A5	6528	broad.mit.edu	37	chr19	18001748	18001748	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgtggtgggacctcgcaCggcagacagcatcagtggcc	7	8	15	11	2	1	1	1	0	0	1	2	2	1	2	2	4	1	4	2	4	0	1			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr19:18001748C>T	ENST00000222248.3	+	14	2052	c.1705C>T	c.(1705-1707)Cgg>Tgg	p.R569W		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	569					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity	p.R569W(1)		NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GGACCTCGCACGGCAGACAGC	0.602													76	154					0	0	0.870114	0	0	T	18001748	C	T	18001748	3	4	30	1	0	0	0	0	1	0	0	0	14723	527	19	1	1759	1	SLC5A5	19	18001748	Missense_Mutation	SNP	C	TCGA-CH-5791-01A-11D-1576-08		18001748	41127235	50	1706											
SIGLEC1	6614	broad.mit.edu	37	chr20	3672817	3672817	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggatctggccctggagtcccGgaaggaggacaggacagcgt	9	5	17	10	2	1	0	0	0	1	0	2	6	2	6	2	7	1	0	2	7	1	0	rs149916347		TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr20:3672817G>A	ENST00000344754.4	-	16	4062	c.4063C>T	c.(4063-4065)Cgg>Tgg	p.R1355W	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.R1355W	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1355	Ig-like C2-type 14.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	p.R1355W(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CTGGAGTCCCGGAAGGAGGAC	0.612													13	30					0	0	0.479597	0	0	A	3672817	G	A	3672817	3	1	30	1	0	0	0	0	1	0	0	0	14360	1115	39	1	1090	1	SIGLEC1	20	3672817	Missense_Mutation	SNP	G	TCGA-CH-5791-01A-11D-1576-08		3672817	59352703	51	1707											
CXADR	1525	broad.mit.edu	37	chr21	18924180	18924180	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatgcatcaataaatgtaacGaatttacaactgtcagatat	17	12	6	6	1	2	1	2	0	0	1	2	3	2	1	0	0	4	2	0	0	8	5			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr21:18924180G>A	ENST00000284878.7	+	3	1072	c.324G>A	c.(322-324)acG>acA	p.T108T	CXADR_ENST00000356275.6_Intron|CXADR_ENST00000306618.10_Silent_p.T108T|CXADR_ENST00000400165.1_Silent_p.T108T|CXADR_ENST00000400166.1_Silent_p.T108T|CXADR_ENST00000400169.1_Silent_p.T108T	NM_001338.4	NP_001329.1	P78310	CXAR_HUMAN	coxsackie virus and adenovirus receptor	108	Ig-like C2-type 1.				blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response	adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction	receptor activity	p.T108T(2)		endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11				Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)		TAAATGTAACGAATTTACAAC	0.358													20	149					0	0	0.592651	0	0	A	18924180	G	A	18924180	2	1	30	1	0	0	0	0	0	0	0	1	4099	1045	37	1		1	CXADR	21	18924180	Silent	SNP	G	TCGA-CH-5791-01A-11D-1576-08		18924180	29205715	52	1708											
SDF2L1	23753	broad.mit.edu	37	chr22	21997279	21997279	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcgggcaggcggtgaggCtcacgcatgtgcttacgggc	5	7	18	11	4	1	1	1	1	0	0	1	1	1	1	0	5	3	5	0	5	1	1			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chr22:21997279C>T	ENST00000248958.4	+	2	392	c.316C>T	c.(316-318)Ctc>Ttc	p.L106F		NM_022044.2	NP_071327.2	Q9HCN8	SDF2L_HUMAN	stromal cell-derived factor 2-like 1	106	MIR 2.					endoplasmic reticulum lumen|membrane		p.L106F(1)		prostate(1)	1	Colorectal(54;0.105)					GGCGGTGAGGCTCACGCATGT	0.706											OREG0026342	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	4					0	0	0.115264	0	0	T	21997279	C	T	21997279	3	4	30	1	0	0	0	0	1	0	0	0	14015	797	28	2	322	2	SDF2L1	22	21997279	Missense_Mutation	SNP	C	TCGA-CH-5791-01A-11D-1576-08		21997279	29307287	53	1709											
PPEF1	5475	broad.mit.edu	37	chrX	18842131	18842131	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctcagttcgaatctggtaaAcatagaccaaaatggaaacg	16	8	8	9	2	2	1	1	0	1	1	3	3	2	2	2	2	2	2	2	2	7	3			TCGA-CH-5791-01A-11D-1576-08	TCGA-CH-5791-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f104f5f-f816-42cf-bdf5-65cbf9d7a5d4	8b462258-f66d-4893-a6f8-245278d1ce9d	g.chrX:18842131A>G	ENST00000361511.4	+	17	2086	c.1592A>G	c.(1591-1593)aAc>aGc	p.N531S	PPEF1_ENST00000349874.5_Missense_Mutation_p.N469S|PPEF1_ENST00000544635.1_Missense_Mutation_p.N466S|PPEF1_ENST00000543630.1_3'UTR|PPEF1_ENST00000359763.6_Missense_Mutation_p.N478S	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	531					detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	p.N531S(1)		breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					AATCTGGTAAACATAGACCAA	0.423													97	51					0	0	0.870114	0	0	G	18842131	A	G	18842131	3	3	30	1	0	0	0	0	1	0	0	0	12352	43	2	3	1646	3	PPEF1	23	18842131	Missense_Mutation	SNP	A	TCGA-CH-5791-01A-11D-1576-08		18842131	136428429	54	1710											
PGM1	5236	broad.mit.edu	37	chr1	64089265	64089265	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggattacggaagaaaacctAttattttgaggaaaagccat	16	11	9	5	1	0	2	0	1	0	1	0	5	0	5	2	3	3	0	2	3	8	5			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr1:64089265A>G	ENST00000371083.4	+	1	502	c.134A>G	c.(133-135)tAt>tGt	p.Y45C	PGM1_ENST00000540265.1_Intron|PGM1_ENST00000371084.3_Intron	NM_001172818.1	NP_001166289.1	P36871	PGM1_HUMAN	phosphoglucomutase 1	27					cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity	p.Y45C(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						AAGAAAACCTATTATTTTGAG	0.418													29	117					0	0	1	0	0	G	64089265	A	G	64089265	3	3	31	1	0	0	0	0	1	0	0	0	11845	449	16	3	386	3	PGM1	1	64089265	Missense_Mutation	SNP	A	TCGA-CH-5792-01A-11D-1576-08		64089265	185161356	1	1711											
OR10Z1	128368	broad.mit.edu	37	chr1	158576873	158576873	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctccttcttcttcatcacCatctcctacgcctacatctt	6	16	2	17	1	7	0	2	0	5	0	9	0	7	0	4	0	2	0	4	0	2	6			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr1:158576873C>T	ENST00000361284.1	+	1	645	c.645C>T	c.(643-645)acC>acT	p.T215T		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T215T(1)		endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TCTTCATCACCATCTCCTACG	0.537													28	267					0	0	1	0	0	T	158576873	C	T	158576873	2	4	31	1	0	0	0	0	0	0	0	1	10971	581	21	2		2	OR10Z1	1	158576873	Silent	SNP	C	TCGA-CH-5792-01A-11D-1576-08	94487608	158576873	90673748	2	1712											
RNASEL	6041	broad.mit.edu	37	chr1	182550489	182550489	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acattccgaagcgtcctataGcggctgaagatgactaaatg	13	9	10	9	3	0	3	0	2	0	1	2	4	2	3	2	1	2	1	2	1	6	4			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr1:182550489G>A	ENST00000367559.3	-	5	2029	c.1776C>T	c.(1774-1776)cgC>cgT	p.R592R	RNASEL_ENST00000444138.1_Silent_p.R592R|RNASEL_ENST00000539397.1_Silent_p.R592R	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	592	KEN.		R -> H (in dbSNP:rs35896902).		mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding	p.R592R(2)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						GCGTCCTATAGCGGCTGAAGA	0.413													46	187					0	0	1	0	0	A	182550489	G	A	182550489	2	1	31	1	0	0	0	0	0	0	0	1	13468	958	34	2		2	RNASEL	1	182550489	Silent	SNP	G	TCGA-CH-5792-01A-11D-1576-08	23973616	182550489	66700132	3	1713											
ATP2B4	493	broad.mit.edu	37	chr1	203682293	203682293	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgtggtctggtgttggcagGtagagcaagaaaagctggac	10	9	17	5	0	1	2	0	0	1	2	1	3	1	3	0	5	2	5	0	5	4	2			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr1:203682293G>A	ENST00000357681.5	+	14	3335	c.2211_splice	c.e14-1	p.V738_splice	ATP2B4_ENST00000367218.3_Splice_Site_p.V738_splice|ATP2B4_ENST00000367219.3_Splice_Site_p.V726_splice|ATP2B4_ENST00000341360.2_Splice_Site_p.V738_splice|ATP2B4_ENST00000391954.2_Splice_Site_p.V738_splice	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	738					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	p.V738I(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GTGTTGGCAGGTAGAGCAAGA	0.502													34	153					0	0	1	0	0	A	203682293	G	A	203682293	5	1	31	1	0	0	0	0	0	0	1	0	1141	1275	44	2	2262	2	ATP2B4	1	203682293	Splice_Site	SNP	G	TCGA-CH-5792-01A-11D-1576-08	21131804	203682293	45568328	4	1714											
KLF11	8462	broad.mit.edu	37	chr2	10188711	10188711	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaccttaaggcccatcttcGcactcacacaggtaagcgct	10	8	7	16	2	2	0	1	0	1	0	3	0	2	0	3	2	1	3	3	2	2	3			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr2:10188711G>A	ENST00000535335.1	+	3	1412	c.1196G>A	c.(1195-1197)cGc>cAc	p.R399H	KLF11_ENST00000305883.1_Missense_Mutation_p.R416H|KLF11_ENST00000540845.1_Missense_Mutation_p.R399H	NM_001177718.1	NP_001171189.1	O14901	KLF11_HUMAN	Kruppel-like factor 11	416					apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle	nucleus	sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.R416H(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		GCCCATCTTCGCACTCACACA	0.567											OREG0014425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	82					0	0	1	0	0	A	10188711	G	A	10188711	3	1	31	1	0	0	0	0	1	0	0	0	8382	1087	38	1	1257	1	KLF11	2	10188711	Missense_Mutation	SNP	G	TCGA-CH-5792-01A-11D-1576-08		10188711	233010662	5	1715											
LHCGR	3973	broad.mit.edu	37	chr2	48915655	48915655	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgccagtctatggcatggttAtagtactggcccttggtttg	6	15	12	8	0	1	0	0	0	1	0	1	0	1	0	2	4	2	4	2	4	4	6			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr2:48915655A>T	ENST00000294954.7	-	11	1302	c.1281T>A	c.(1279-1281)taT>taA	p.Y427*	LHCGR_ENST00000405626.1_Nonsense_Mutation_p.Y400*|LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000401907.1_Intron|LHCGR_ENST00000344775.3_Nonsense_Mutation_p.Y365*|STON1-GTF2A1L_ENST00000402114.2_Intron	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	427					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	p.Y427*(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	TGGCATGGTTATAGTACTGGC	0.493													12	94					0	0	1	0	0	T	48915655	A	T	48915655	4	4	31	1	0	0	0	0	0	1	0	0	8802	456	16	5	822	5	LHCGR	2	48915655	Nonsense_Mutation	SNP	A	TCGA-CH-5792-01A-11D-1576-08	38726944	48915655	194283718	6	1716											
ZSWIM2	151112	broad.mit.edu	37	chr2	187693166	187693166	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aattttataatcataggttaAtttttttgaatttgaattat	14	22	4	1	0	1	2	1	2	0	0	1	2	1	2	0	1	0	1	0	1	8	10			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr2:187693166A>T	ENST00000295131.2	-	9	1486	c.1447T>A	c.(1447-1449)Tta>Ata	p.L483I		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	483					apoptosis		zinc ion binding	p.L483I(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TCATAGGTTAATTTTTTTGAA	0.318													17	85					0	0	1	0	0	T	187693166	A	T	187693166	3	4	31	1	0	0	0	0	1	0	0	0	18281	98	4	5	458	5	ZSWIM2	2	187693166	Missense_Mutation	SNP	A	TCGA-CH-5792-01A-11D-1576-08	138777511	187693166	55506207	7	1717											
IRS1	3667	broad.mit.edu	37	chr2	227661593	227661593	+	Frame_Shift_Del	DEL	G	G	-																															cctttcggccactgggcactGgggccacccctggggacatg																										TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr2:227661593delG	ENST00000305123.4	-	1	2882	c.1862delC	c.(1861-1863)cafs	p.P621fs		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	621					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		ACTGGGCACTGGGGCCACCCC	0.632											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	98	---	---	---	---						-	227661593	G	-	227661593	7	5	31	1	0	1	0	1	0	0	0	0	7884	1348	47	0	1870	0	IRS1	2	227661593	Frame_Shift_Del	DEL	G	TCGA-CH-5792-01A-11D-1576-08	39968427	227661593	15537780	8	1718											
MST1R	4486	broad.mit.edu	37	chr3	49928943	49928943	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaatgagagccagcacattCgggtggttcaggccacgcat	10	7	12	12	2	1	1	1	1	0	1	2	2	1	1	3	3	2	3	3	3	1	2	rs138521247		TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr3:49928943C>T	ENST00000296474.3	-	16	3450	c.3423G>A	c.(3421-3423)ccG>ccA	p.P1141P	MST1R_ENST00000344206.4_Silent_p.P1092P	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1141	Protein kinase.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding	p.P1141P(3)		cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CCAGCACATTCGGGTGGTTCA	0.612													15	160					0	0	1	0	0	T	49928943	C	T	49928943	2	4	31	1	0	0	0	0	0	0	0	1	9939	871	31	1		1	MST1R	3	49928943	Silent	SNP	C	TCGA-CH-5792-01A-11D-1576-08		49928943	148093487	9	1719											
PDZRN3	23024	broad.mit.edu	37	chr3	73432865	73432865	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgccgctgcgctcttccCggatcttcagggcgcgctcc	3	10	11	17	5	4	0	2	0	2	0	6	1	6	1	3	2	2	3	3	2	0	2			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr3:73432865C>T	ENST00000263666.4	-	10	2966	c.2852G>A	c.(2851-2853)cGg>cAg	p.R951Q	PDZRN3_ENST00000466780.1_Missense_Mutation_p.R608Q|PDZRN3_ENST00000462146.2_Missense_Mutation_p.R608Q|PDZRN3_ENST00000535920.1_Missense_Mutation_p.R673Q|PDZRN3_ENST00000479530.1_Missense_Mutation_p.R668Q	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	951							ubiquitin-protein ligase activity|zinc ion binding	p.R951Q(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GCGCTCTTCCCGGATCTTCAG	0.657													8	72					0	0	1	0	0	T	73432865	C	T	73432865	3	4	31	1	0	0	0	0	1	0	0	0	11756	652	23	1	352	1	PDZRN3	3	73432865	Missense_Mutation	SNP	C	TCGA-CH-5792-01A-11D-1576-08	23503922	73432865	124589565	10	1720											
CMYA5	202333	broad.mit.edu	37	chr5	79029070	79029070	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagcaagggtagaagacaaAcaagatcttttattttctac	16	11	8	6	0	2	3	0	0	2	3	2	4	2	3	0	1	3	2	0	1	8	6			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr5:79029070A>G	ENST00000446378.2	+	2	4513	c.4482A>G	c.(4480-4482)aaA>aaG	p.K1494K		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1494						perinuclear region of cytoplasm		p.K1494K(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TAGAAGACAAACAAGATCTTT	0.403													13	213					0	0	1	0	0	G	79029070	A	G	79029070	2	3	31	1	0	0	0	0	0	0	0	1	3613	40	2	3		3	CMYA5	5	79029070	Silent	SNP	A	TCGA-CH-5792-01A-11D-1576-08		79029070	101886190	11	1721											
FAM81B	153643	broad.mit.edu	37	chr5	94749818	94749818	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggctttcgaaaagaggaatCgctcgccaggaagttactgg	11	9	13	8	3	0	1	0	0	0	1	3	4	0	3	1	4	1	3	1	4	5	2			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr5:94749818C>T	ENST00000283357.5	+	4	507	c.461C>T	c.(460-462)tCg>tTg	p.S154L		NM_152548.2	NP_689761.2	Q96LP2	FA81B_HUMAN	family with sequence similarity 81, member B	154								p.S154L(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		AAAGAGGAATCGCTCGCCAGG	0.473													25	110					0	0	1	0	0	T	94749818	C	T	94749818	3	4	31	1	0	0	0	0	1	0	0	0	5661	893	31	1	475	1	FAM81B	5	94749818	Missense_Mutation	SNP	C	TCGA-CH-5792-01A-11D-1576-08	15720748	94749818	86165442	12	1722											
PCDHB14	0	broad.mit.edu	37	chr5	140604725	140604725	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgaggcgctggtgcgcgtgCtggtgctggacgccaacgac	5	6	18	12	6	0	0	0	0	0	0	0	3	0	1	1	4	4	3	1	4	1	0			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr5:140604725C>G	ENST00000239449.4	+	1	1648	c.1648C>G	c.(1648-1650)Ctg>Gtg	p.L550V	PCDHB14_ENST00000515856.2_Missense_Mutation_p.L397V	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		550	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGCGCGTGCTGGTGCTGGA	0.716													5	79					0	0	1	0	0	G	140604725	C	G	140604725	3	3	31	1	0	0	0	0	1	0	0	0	11586	796	28	4	1650	4	PCDHB14	5	140604725	Missense_Mutation	SNP	C	TCGA-CH-5792-01A-11D-1576-08	45854907	140604725	40310535	13	1723											
NOD1	10392	broad.mit.edu	37	chr7	30491366	30491366	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagggaggatagcaggacGtggtcgctgcccccgcaggg	8	4	19	10	3	0	0	0	0	0	0	1	4	0	4	2	6	2	3	2	6	2	1			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr7:30491366G>A	ENST00000222823.4	-	6	2192	c.1667C>T	c.(1666-1668)aCg>aTg	p.T556M		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	556					activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity	p.T556M(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						ATAGCAGGACGTGGTCGCTGC	0.607													39	136					0	0	1	0	0	A	30491366	G	A	30491366	3	1	31	1	0	0	0	0	1	0	0	0	10563	1145	40	1	1230	1	NOD1	7	30491366	Missense_Mutation	SNP	G	TCGA-CH-5792-01A-11D-1576-08		30491366	128647297	14	1724											
VGF	7425	broad.mit.edu	37	chr7	100807837	100807837	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgggagccgcttggtgccggGggtgaggcgggacggtcgag	4	6	23	8	5	0	1	0	1	0	0	1	4	0	3	2	7	2	1	2	7	0	1			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr7:100807837G>A	ENST00000249330.2	-	2	527	c.288C>T	c.(286-288)ccC>ccT	p.P96P	VGF_ENST00000445482.2_Silent_p.P96P	NM_003378.3	NP_003369.2	O15240	VGF_HUMAN	VGF nerve growth factor inducible	96					response to cAMP	extracellular space|transport vesicle	growth factor activity	p.P96P(1)		cervix(1)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	9	Lung NSC(181;0.168)|all_lung(186;0.215)					TTGGTGCCGGGGGTGAGGCGG	0.716													4	21					0	0	1	0	0	A	100807837	G	A	100807837	2	1	31	1	0	0	0	0	0	0	0	1	17217	1219	43	2		2	VGF	7	100807837	Silent	SNP	G	TCGA-CH-5792-01A-11D-1576-08	70316471	100807837	58330826	15	1725											
DPP6	1804	broad.mit.edu	37	chr7	154667767	154667767	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgcacgaagtgaggcggCggctgggcttgctggaggag	6	7	19	9	3	0	1	0	1	0	0	1	4	1	3	1	6	2	4	1	6	1	1			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr7:154667767C>T	ENST00000404039.1	+	20	2430	c.1843C>T	c.(1843-1845)Cgg>Tgg	p.R615W	DPP6_ENST00000427557.1_Missense_Mutation_p.R572W|DPP6_ENST00000377770.3_Missense_Mutation_p.R679W|DPP6_ENST00000332007.3_Missense_Mutation_p.R617W	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	679					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	p.R679W(1)|p.R615W(1)		NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			AGTGAGGCGGCGGCTGGGCTT	0.687													7	27					0	0	1	0	0	T	154667767	C	T	154667767	3	4	31	1	0	0	0	0	1	0	0	0	4756	759	27	1	2229	1	DPP6	7	154667767	Missense_Mutation	SNP	C	TCGA-CH-5792-01A-11D-1576-08	53859930	154667767	4470896	16	1726											
ARHGEF10	9639	broad.mit.edu	37	chr8	1905302	1905302	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgggccaagaaagccaaggCcagctcggcgctggtggtct	8	5	15	13	3	1	1	0	0	1	1	2	1	1	1	4	5	2	2	4	5	3	0			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr8:1905302C>A	ENST00000518288.1	+	30	4143	c.3980C>A	c.(3979-3981)gCc>gAc	p.A1327D	ARHGEF10_ENST00000262112.6_Missense_Mutation_p.A1299D|ARHGEF10_ENST00000521927.1_3'UTR|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.A1303D|ARHGEF10_ENST00000398564.1_Missense_Mutation_p.A1328D|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.A1265D			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	1328					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity	p.A1303D(1)|p.A1080D(1)|p.A1328D(1)		endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		AAAGCCAAGGCCAGCTCGGCG	0.637													5	79					0.014758	0.0152499	1	1	0	A	1905302	C	A	1905302	3	1	31	1	0	0	0	0	1	0	0	0	891	739	26	4	4018	4	ARHGEF10	8	1905302	Missense_Mutation	SNP	C	TCGA-CH-5792-01A-11D-1576-08		1905302	144458720	17	1727											
CSMD1	64478	broad.mit.edu	37	chr8	3889497	3889497	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgatgcaggtcaggatggcGtggccttccaagatgtagcc	9	8	14	10	2	1	1	1	0	0	1	2	3	2	2	3	4	2	2	3	4	2	2			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr8:3889497G>A	ENST00000520002.1	-	4	1095	c.540C>T	c.(538-540)caC>caT	p.H180H	CSMD1_ENST00000602723.1_Silent_p.H180H|CSMD1_ENST00000400186.3_Silent_p.H180H|CSMD1_ENST00000602557.1_Silent_p.H180H|CSMD1_ENST00000542608.1_Silent_p.H180H|CSMD1_ENST00000539096.1_Silent_p.H180H|CSMD1_ENST00000537824.1_Silent_p.H180H			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	180	Sushi 1.					integral to membrane		p.H180H(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCAGGATGGCGTGGCCTTCCA	0.542													8	35					0	0	1	0	0	A	3889497	G	A	3889497	2	1	31	1	0	0	0	0	0	0	0	1	3969	1136	40	1		1	CSMD1	8	3889497	Silent	SNP	G	TCGA-CH-5792-01A-11D-1576-08	1984195	3889497	142474525	18	1728											
WHSC1L1	54904	broad.mit.edu	37	chr8	38162867	38162867	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agatggcagtggggaatttgCggacacaggcttcatgataa	12	9	14	6	1	1	2	1	1	0	1	1	4	1	4	0	5	1	2	0	5	2	3			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr8:38162867C>T	ENST00000317025.8	-	13	2856	c.2339G>A	c.(2338-2340)cGc>cAc	p.R780H	WHSC1L1_ENST00000527502.1_Missense_Mutation_p.R780H|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.R780H	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	780					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding	p.R780H(2)		NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			GGGGAATTTGCGGACACAGGC	0.463			T	NUP98	AML								4	110					0	0	1	0	0	T	38162867	C	T	38162867	3	4	31	1	0	0	0	0	1	0	0	0	17423	768	27	1	2022	1	WHSC1L1	8	38162867	Missense_Mutation	SNP	C	TCGA-CH-5792-01A-11D-1576-08	34273370	38162867	108201155	19	1729											
TNFRSF11B	4982	broad.mit.edu	37	chr8	119945484	119945484	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggtttcttcgtcataatgaAggtactttggaggaaacgtt	11	14	11	5	2	2	1	1	1	1	0	3	3	2	3	0	4	2	3	0	4	4	6	rs144062067	byFrequency	TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr8:119945484A>C	ENST00000297350.4	-	2	464	c.86T>G	c.(85-87)cTt>cGt	p.L29R		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	29					apoptosis|skeletal system development		cytokine activity|receptor activity	p.L29R(2)		breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			GTCATAATGAAGGTACTTTGG	0.443													36	165					0	0	1	0	0	C	119945484	A	C	119945484	3	2	31	1	0	0	0	0	1	0	0	0	16345	72	3	5	1135	5	TNFRSF11B	8	119945484	Missense_Mutation	SNP	A	TCGA-CH-5792-01A-11D-1576-08	81782617	119945484	26418538	20	1730											
NFIL3	4783	broad.mit.edu	37	chr9	94172250	94172250	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcagtagtgggggagagtgtGagtacccagagaaagaattc	13	7	16	5	0	0	4	0	1	0	3	1	6	0	4	1	2	1	3	1	2	4	3			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr9:94172250G>C	ENST00000297689.3	-	2	1161	c.767C>G	c.(766-768)tCa>tGa	p.S256*		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	256					circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.S256*(1)		endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						GGGAGAGTGTGAGTACCCAGA	0.488													28	187					0	0	1	0	0	C	94172250	G	C	94172250	4	2	31	1	0	0	0	0	0	1	0	0	10420	1294	45	4	625	4	NFIL3	9	94172250	Nonsense_Mutation	SNP	G	TCGA-CH-5792-01A-11D-1576-08		94172250	47041181	21	1731											
KIAA1217	56243	broad.mit.edu	37	chr10	24820812	24820812	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agctggggggaaagtcgcccCctcctcctccgccacctcct	5	7	10	19	2	0	0	0	0	0	0	5	1	4	1	8	3	1	1	8	3	1	0			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr10:24820812C>A	ENST00000376451.2	+	10	2445	c.2185C>A	c.(2185-2187)Cct>Act	p.P729T	KIAA1217_ENST00000376452.3_Missense_Mutation_p.P1010T|KIAA1217_ENST00000396446.1_Missense_Mutation_p.P729T|KIAA1217_ENST00000430453.2_3'UTR|KIAA1217_ENST00000307544.6_Missense_Mutation_p.P729T|KIAA1217_ENST00000458595.1_Missense_Mutation_p.P1011T|KIAA1217_ENST00000396445.1_Missense_Mutation_p.P729T|KIAA1217_ENST00000376454.3_Missense_Mutation_p.P1046T|KIAA1217_ENST00000376462.1_Missense_Mutation_p.P966T			Q5T5P2	SKT_HUMAN	KIAA1217	1046					embryonic skeletal system development	cytoplasm		p.P1046T(2)		breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AAAGTCGCCCCCTCCTCCTCC	0.517													3	55					1	1	1	1	0	A	24820812	C	A	24820812	3	1	31	1	0	0	0	0	1	0	0	0	8258	623	22	4	3194	4	KIAA1217	10	24820812	Missense_Mutation	SNP	C	TCGA-CH-5792-01A-11D-1576-08		24820812	110713935	22	1732											
NDST2	8509	broad.mit.edu	37	chr10	75565719	75565719	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctccggtctagttcacgaGagcctccaggatactcatta	9	11	9	12	2	3	1	2	0	1	1	5	3	5	2	3	2	3	2	3	2	3	4			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr10:75565719G>A	ENST00000299641.4	-	8	2103	c.1133C>T	c.(1132-1134)tCt>tTt	p.S378F	NDST2_ENST00000309979.6_Missense_Mutation_p.S501F	NM_003635.3	NP_003626.1	P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	501	Heparan sulfate N-deacetylase 2.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.S501F(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					TAGTTCACGAGAGCCTCCAGG	0.507													34	129					0	0	1	0	0	A	75565719	G	A	75565719	3	1	31	1	0	0	0	0	1	0	0	0	10303	942	33	2	1185	2	NDST2	10	75565719	Missense_Mutation	SNP	G	TCGA-CH-5792-01A-11D-1576-08	50744907	75565719	59969028	23	1733											
CD163	9332	broad.mit.edu	37	chr12	7640278	7640278	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctgtgtatcctggaaggAgacagggctttagaaaaaga	13	11	12	5	0	1	3	0	0	1	3	2	5	2	4	1	3	0	2	1	3	5	4			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr12:7640278A>G	ENST00000396620.3	-	7	1911	c.1826T>C	c.(1825-1827)cTc>cCc	p.L609P	CD163_ENST00000541972.1_Intron|CD163_ENST00000432237.2_Intron|CD163_ENST00000359156.4_Intron			Q86VB7	C163A_HUMAN	CD163 molecule	579	SRCR 6.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	p.?(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TCCTGGAAGGAGACAGGGCTT	0.488													40	145					0	0	1	0	0	G	7640278	A	G	7640278	3	3	31	1	0	0	0	0	1	0	0	0	2989	319	11	3		3	CD163	12	7640278	Missense_Mutation	SNP	A	TCGA-CH-5792-01A-11D-1576-08		7640278	126211617	24	1734											
HCFC2	29915	broad.mit.edu	37	chr12	104487302	104487302	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggcatcaaatgcttctaatCataatagtcatgtggtggat	12	14	9	6	0	4	0	3	0	1	0	4	1	4	1	0	3	1	2	0	3	4	4			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr12:104487302C>T	ENST00000229330.4	+	10	1527	c.1423C>T	c.(1423-1425)Cat>Tat	p.H475Y	HCFC2_ENST00000550335.1_3'UTR	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	475					regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity	p.H475Y(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TGCTTCTAATCATAATAGTCA	0.323													17	98					0	0	1	0	0	T	104487302	C	T	104487302	3	4	31	1	0	0	0	0	1	0	0	0	7034	826	29	2	1461	2	HCFC2	12	104487302	Missense_Mutation	SNP	C	TCGA-CH-5792-01A-11D-1576-08	96847024	104487302	29364593	25	1735											
NYNRIN	57523	broad.mit.edu	37	chr14	24877295	24877295	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctggaggagctggtggggcGactgcgctggggccctgccc	3	6	20	12	2	0	0	0	0	0	0	0	3	0	2	2	7	3	3	2	7	0	0			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr14:24877295G>A	ENST00000382554.3	+	3	737	c.419G>A	c.(418-420)cGa>cAa	p.R140Q		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	140					DNA integration	integral to membrane	DNA binding	p.R140Q(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CTGGTGGGGCGACTGCGCTGG	0.682													18	43					0	0	1	0	0	A	24877295	G	A	24877295	3	1	31	1	0	0	0	0	1	0	0	0	10844	1058	37	1	425	1	NYNRIN	14	24877295	Missense_Mutation	SNP	G	TCGA-CH-5792-01A-11D-1576-08		24877295	82472245	26	1736											
SEL1L	6400	broad.mit.edu	37	chr14	81993164	81993164	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gatatcttctgtgacactttCcccctcttggctcttgaggc	5	15	8	13	0	4	2	0	2	4	0	5	3	5	2	2	2	0	1	2	2	1	5			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr14:81993164C>T	ENST00000336735.4	-	3	369	c.253G>A	c.(253-255)Gaa>Aaa	p.E85K	SEL1L_ENST00000555824.1_Missense_Mutation_p.E85K	NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	85	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding	p.E85K(1)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		GTGACACTTTCCCCCTCTTGG	0.418													10	316					0	0	1	0	0	T	81993164	C	T	81993164	3	4	31	1	0	0	0	0	1	0	0	0	14064	864	30	2	2207	2	SEL1L	14	81993164	Missense_Mutation	SNP	C	TCGA-CH-5792-01A-11D-1576-08	57115869	81993164	25356376	27	1737			1	8		2	2	70	C		9.138138e-05
SEL1L	6400	broad.mit.edu	37	chr14	81993233	81993233	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taattcagattcttctgaatCaagaaatatttgaccagcaa	16	13	5	7	0	4	4	2	2	2	2	4	4	4	4	1	0	1	1	1	0	6	6			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr14:81993233C>T	ENST00000336735.4	-	3	300	c.184G>A	c.(184-186)Gat>Aat	p.D62N	SEL1L_ENST00000555824.1_Missense_Mutation_p.D62N	NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	62	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding	p.D62N(1)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		TCTTCTGAATCAAGAAATATT	0.383													10	160					0	0	1	0	0	T	81993233	C	T	81993233	3	4	31	1	0	0	0	0	1	0	0	0	14064	826	29	2	2276	2	SEL1L	14	81993233	Missense_Mutation	SNP	C	TCGA-CH-5792-01A-11D-1576-08	69	81993233	25356307	28	1738			1	8		2	2	70	C		9.138138e-05
IGF1R	3480	broad.mit.edu	37	chr15	99482581	99482581	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agccgaagatttcacagtcaAaatcggaggtgtgtccttag	12	10	11	8	2	2	1	2	0	0	1	4	3	3	2	2	2	1	0	2	2	4	2			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr15:99482581A>G	ENST00000268035.6	+	18	4060	c.3449A>G	c.(3448-3450)aAa>aGa	p.K1150R	IGF1R_ENST00000558762.1_Missense_Mutation_p.K1149R	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	1150	Protein kinase.				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	p.K1150R(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	TTCACAGTCAAAATCGGAGGT	0.498													36	160					0	0	1	0	0	G	99482581	A	G	99482581	3	3	31	1	0	0	0	0	1	0	0	0	7615	14	1	3	3519	3	IGF1R	15	99482581	Missense_Mutation	SNP	A	TCGA-CH-5792-01A-11D-1576-08		99482581	3048811	29	1739											
C16orf46	123775	broad.mit.edu	37	chr16	81095725	81095725	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgcaggcagctggagaagTccttccccacccttggacct	8	8	11	14	0	0	1	0	0	0	1	2	4	2	2	5	3	2	3	5	3	1	2	rs17855893		TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr16:81095725T>C	ENST00000378611.4	-	3	344	c.229A>G	c.(229-231)Act>Gct	p.T77A	C16orf46_ENST00000299578.5_Missense_Mutation_p.T77A|C16orf46_ENST00000444657.3_5'UTR|RP11-303E16.8_ENST00000564536.1_RNA	NM_001100873.1	NP_001094343.1	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	77			T -> S (in dbSNP:rs17855893).					p.T77A(1)		NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						GCTGGAGAAGTCCTTCCCCAC	0.552													29	100					0	0	1	0	0	C	81095725	T	C	81095725	3	2	31	1	0	0	0	0	1	0	0	0	1822	1667	58	3	990	3	C16orf46	16	81095725	Missense_Mutation	SNP	T	TCGA-CH-5792-01A-11D-1576-08		81095725	9259028	30	1740											
TAF15	8148	broad.mit.edu	37	chr17	34147368	34147368	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctatggtggttatgagaatCaaaagcagagctcatatagc	14	10	10	7	0	2	2	2	1	0	2	2	3	2	2	1	2	3	3	1	2	7	4			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr17:34147368C>T	ENST00000588240.1	+	5	332	c.217C>T	c.(217-219)Caa>Taa	p.Q73*	TAF15_ENST00000311979.3_Nonsense_Mutation_p.Q70*|AC015849.19_ENST00000588415.1_RNA|AC015849.13_ENST00000589356.1_RNA|TAF15_ENST00000592237.1_5'UTR	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q92804	RBP56_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	73	Gln/Gly/Ser/Tyr-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding	p.Q73*(1)	TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TTATGAGAATCAAAAGCAGAG	0.348			T	"TEC, CHN1, ZNF384"	"extraskeletal myxoid chondrosarcomas, ALL"								16	73					0	0	1	0	0	T	34147368	C	T	34147368	4	4	31	1	0	0	0	0	0	1	0	0	15575	827	29	2	235	2	TAF15	17	34147368	Nonsense_Mutation	SNP	C	TCGA-CH-5792-01A-11D-1576-08		34147368	47047842	31	1741											
RAB5C	5878	broad.mit.edu	37	chr17	40282379	40282379	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aattgtgctctcctggtactCgtgaaactgtcccttgacaa	9	13	8	11	1	1	2	0	2	1	0	4	2	2	2	2	1	3	2	2	1	4	3			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr17:40282379C>T	ENST00000393860.3	-	3	458	c.142G>A	c.(142-144)Gag>Aag	p.E48K	CTD-2132N18.3_ENST00000592574.1_Missense_Mutation_p.E48K|RAB5C_ENST00000346213.4_Missense_Mutation_p.E48K|RAB5C_ENST00000547517.1_Missense_Mutation_p.E81K	NM_201434.2	NP_958842.1	P51148	RAB5C_HUMAN	RAB5C, member RAS oncogene family	48					protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GTP binding|GTPase activity|protein binding	p.E48K(1)		large_intestine(1)|lung(4)|prostate(1)|skin(1)	7		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		TCCTGGTACTCGTGAAACTGT	0.542													11	66					0	0	1	0	0	T	40282379	C	T	40282379	3	4	31	1	0	0	0	0	1	0	0	0	13002	893	31	1	528	1	RAB5C	17	40282379	Missense_Mutation	SNP	C	TCGA-CH-5792-01A-11D-1576-08	6135011	40282379	40912831	32	1742											
CD300LB	124599	broad.mit.edu	37	chr17	72527561	72527561	+	Frame_Shift_Del	DEL	G	G	-																															gcagatcccagatgcactctGgaagttctgcctgagctctg																										TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr17:72527561delG	ENST00000392621.1	-	1	44	c.40delC	c.(40-42)agfs	p.Q14fs	CD300LB_ENST00000314401.3_Frame_Shift_Del_p.Q14fs	NM_174892.2	NP_777552.2	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	0						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						GATGCACTCTGGAAGTTCTGC	0.542													17	105	---	---	---	---						-	72527561	G	-	72527561	7	5	31	1	0	1	0	1	0	0	0	0	3021	1357	47	0	692	0	CD300LB	17	72527561	Frame_Shift_Del	DEL	G	TCGA-CH-5792-01A-11D-1576-08	32245182	72527561	8667649	33	1743											
ESCO1	114799	broad.mit.edu	37	chr18	19116092	19116092	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttctggaatagcacattaGtggagcctgttgaaaaccta	13	11	10	7	0	1	1	0	1	1	0	1	3	1	3	2	2	3	3	2	2	6	5			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr18:19116092G>C	ENST00000269214.5	-	10	3035	c.2098C>G	c.(2098-2100)Cta>Gta	p.L700V		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	700					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	p.L700V(1)		breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						TAGCACATTAGTGGAGCCTGT	0.333													44	170					0	0	1	0	0	C	19116092	G	C	19116092	3	2	31	1	0	0	0	0	1	0	0	0	5276	1020	36	4	436	4	ESCO1	18	19116092	Missense_Mutation	SNP	G	TCGA-CH-5792-01A-11D-1576-08		19116092	58961156	34	1744											
COL5A3	50509	broad.mit.edu	37	chr19	10089567	10089567	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtctccaaagatactcacCgggtccccagggcccccttt	7	8	10	16	1	2	1	1	0	1	1	4	1	3	1	6	3	1	0	6	3	2	2			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr19:10089567C>T	ENST00000264828.3	-	40	3049	c.2964_splice	c.e40+1	p.P988_splice		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	988	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	p.P988P(3)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			AGATACTCACCGGGTCCCCAG	0.617													5	39					0	0	1	0	0	T	10089567	C	T	10089567	5	4	31	1	0	0	0	0	0	0	1	0	3721	666	23	1	2385	1	COL5A3	19	10089567	Splice_Site	SNP	C	TCGA-CH-5792-01A-11D-1576-08		10089567	49039416	35	1745											
KEAP1	9817	broad.mit.edu	37	chr19	10602358	10602358	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tacggggcacgctcatggggGcgcagggcgaccactgattg	7	6	17	11	4	1	1	1	1	0	0	1	2	1	1	1	5	1	3	1	5	1	2			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr19:10602358G>A	ENST00000171111.5	-	3	1767	c.1220C>T	c.(1219-1221)gCc>gTc	p.A407V	KEAP1_ENST00000393623.2_Missense_Mutation_p.A407V	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	407					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.A407V(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			GCTCATGGGGGCGCAGGGCGA	0.652													5	17					0	0	1	0	0	A	10602358	G	A	10602358	3	1	31	1	0	0	0	0	1	0	0	0	8184	1203	42	2	670	2	KEAP1	19	10602358	Missense_Mutation	SNP	G	TCGA-CH-5792-01A-11D-1576-08	512791	10602358	48526625	36	1746											
NLRP9	338321	broad.mit.edu	37	chr19	56244522	56244522	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcaaagccatccatgatGaacagaattctctctggctg	11	11	8	11	0	3	3	1	2	2	1	5	3	4	3	2	1	3	2	2	1	3	1			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr19:56244522G>T	ENST00000332836.2	-	2	702	c.675C>A	c.(673-675)ttC>ttA	p.F225L		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	225	NACHT.					cytoplasm	ATP binding	p.F225L(1)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CATCCATGATGAACAGAATTC	0.483													5	48					0.184627	0.187654	1	1	0	T	56244522	G	T	56244522	3	4	31	1	0	0	0	0	1	0	0	0	10531	1281	45	4	2332	4	NLRP9	19	56244522	Missense_Mutation	SNP	G	TCGA-CH-5792-01A-11D-1576-08	45642164	56244522	2884461	37	1747											
PDYN	5173	broad.mit.edu	37	chr20	1961214	1961214	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgcaaaaagcccccatagcGtttgacctgctccttggggt	8	9	11	13	2	0	1	0	1	0	0	1	1	1	1	4	2	3	3	4	2	3	3			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr20:1961214G>A	ENST00000217305.2	-	4	745	c.520C>T	c.(520-522)Cgc>Tgc	p.R174C	PDYN_ENST00000540134.1_Missense_Mutation_p.R174C|PDYN_ENST00000539905.1_Missense_Mutation_p.R174C|RP4-684O24.5_ENST00000446562.1_RNA	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	174					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity	p.R174C(2)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCCCCATAGCGTTTGACCTGC	0.582													7	171					0	0	1	0	0	A	1961214	G	A	1961214	3	1	31	1	0	0	0	0	1	0	0	0	11746	1145	40	1	248	1	PDYN	20	1961214	Missense_Mutation	SNP	G	TCGA-CH-5792-01A-11D-1576-08		1961214	61064306	38	1748											
MAPRE1	22919	broad.mit.edu	37	chr20	31424469	31424469	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggacaaattagtaaaaggAaagtttcaggacaattttga	17	11	10	3	0	1	1	1	1	0	0	1	4	1	4	0	3	0	2	0	3	6	5			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chr20:31424469A>G	ENST00000375571.5	+	4	436	c.297A>G	c.(295-297)ggA>ggG	p.G99G		NM_012325.2	NP_036457.1	Q15691	MARE1_HUMAN	microtubule-associated protein, RP/EB family, member 1	99	CH.				cell division|cell proliferation|G2/M transition of mitotic cell cycle|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule	centrosome|cortical microtubule cytoskeleton|cytosol	microtubule plus-end binding|protein C-terminus binding	p.G99G(1)		endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						TAGTAAAAGGAAAGTTTCAGG	0.398													13	73					0	0	1	0	0	G	31424469	A	G	31424469	2	3	31	1	0	0	0	0	0	0	0	1	9344	233	9	3		3	MAPRE1	20	31424469	Silent	SNP	A	TCGA-CH-5792-01A-11D-1576-08	29463255	31424469	31601051	39	1749											
TXLNG	55787	broad.mit.edu	37	chrX	16859875	16859875	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	caggctctgctccggccatcGagtcggttgactaagatgag	8	9	13	11	3	1	3	0	2	1	1	4	4	2	3	2	3	1	3	2	3	1	2			TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chrX:16859875G>C	ENST00000380122.5	+	10	1634	c.1573G>C	c.(1573-1575)Gag>Cag	p.E525Q	TXLNG_ENST00000485153.1_3'UTR|TXLNG_ENST00000398155.4_Missense_Mutation_p.E393Q	NM_018360.2	NP_060830.2	Q9NUQ3	TXLNG_HUMAN	taxilin gamma	525					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane		p.E525Q(2)		breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	15						TCCGGCCATCGAGTCGGTTGA	0.483													32	63					0	0	1	0	0	C	16859875	G	C	16859875	3	2	31	1	0	0	0	0	1	0	0	0	16851	1059	37	4	1611	4	TXLNG	23	16859875	Missense_Mutation	SNP	G	TCGA-CH-5792-01A-11D-1576-08		16859875	138410685	40	1750											
HDAC6	10013	broad.mit.edu	37	chrX	48674947	48674947	+	Missense_Mutation	SNP	T	T	G																															caccgtgagagttccaacttTgactccatctatatctgccc																										TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chrX:48674947T>G	ENST00000334136.5	+	19	1876	c.1698T>G	c.(1696-1698)ttT>ttG	p.F566L	HDAC6_ENST00000444343.2_Missense_Mutation_p.F580L|HDAC6_ENST00000376619.2_Missense_Mutation_p.F566L			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	566	Histone deacetylase 2.				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding	p.F566L(1)		breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	GTTCCAACTTTGACTCCATCT	0.592													16	22					0	0	1	0	0	G	48674947	T	G	48674947	3	3	31	1	0	0	0	0	1	0	0	0	7052	1809	63	5	1768	5	HDAC6	23	48674947	Missense_Mutation	SNP	T	TCGA-CH-5792-01A-11D-1576-08	31815072	48674947	106595613	41	1751	10	2									
HDAC6	10013	broad.mit.edu	37	chrX	48674948	48674948	+	Missense_Mutation	SNP	G	G	C																															accgtgagagttccaactttGactccatctatatctgcccc																										TCGA-CH-5792-01A-11D-1576-08	TCGA-CH-5792-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9447bfdb-8772-4a94-a7e5-9b95f205b262	2f8846f4-bd22-447a-b4c3-4fc9049b5a21	g.chrX:48674948G>C	ENST00000334136.5	+	19	1877	c.1699G>C	c.(1699-1701)Gac>Cac	p.D567H	HDAC6_ENST00000444343.2_Missense_Mutation_p.D581H|HDAC6_ENST00000376619.2_Missense_Mutation_p.D567H			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	567	Histone deacetylase 2.				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding	p.D567Y(1)|p.D567H(1)		breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	TTCCAACTTTGACTCCATCTA	0.592													16	21					0	0	1	0	0	C	48674948	G	C	48674948	3	2	31	1	0	0	0	0	1	0	0	0	7052	1290	45	4	1769	4	HDAC6	23	48674948	Missense_Mutation	SNP	G	TCGA-CH-5792-01A-11D-1576-08	1	48674948	106595612	42	1752	10	2									
JAK1	3716	broad.mit.edu	37	chr1	65310466	65310466	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acagcaccgtaatggggatgCcggggtcactgagcttgatg	9	8	15	9	2	1	2	1	2	0	0	1	3	1	3	2	4	3	3	2	4	1	2			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr1:65310466C>T	ENST00000342505.4	-	16	2470	c.2222G>A	c.(2221-2223)gGc>gAc	p.G741D	JAK1_ENST00000465376.1_5'UTR	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	741	Protein kinase 1.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	p.G741D(1)		breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		AATGGGGATGCCGGGGTCACT	0.587			Mis		ALL								23	41					0	0	1	0	0	T	65310466	C	T	65310466	3	4	32	1	0	0	0	0	1	0	0	0	7981	739	26	2	1282	2	JAK1	1	65310466	Missense_Mutation	SNP	C	TCGA-CH-5794-01A-11D-1576-08		65310466	183940155	1	1753											
SPTA1	6708	broad.mit.edu	37	chr1	158585065	158585065	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aacccaagctggtagagctgGtcccactgctgagccaatcc	10	7	10	14	0	0	2	0	1	0	1	2	2	2	2	4	2	5	4	4	2	4	1			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr1:158585065G>A	ENST00000368148.3	-	48	6909	c.6729C>T	c.(6727-6729)gaC>gaT	p.D2243D	SPTA1_ENST00000368147.3_Silent_p.D2240D	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2243					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.D2243D(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GGTAGAGCTGGTCCCACTGCT	0.542													87	233					0	0	1	0	0	A	158585065	G	A	158585065	2	1	32	1	0	0	0	0	0	0	0	1	15172	1252	44	2		2	SPTA1	1	158585065	Silent	SNP	G	TCGA-CH-5794-01A-11D-1576-08	93274599	158585065	90665556	2	1754											
CFHR2	3080	broad.mit.edu	37	chr1	196918732	196918732	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcaaaatccttttggactcGcataacgtgcgcagaagaag	13	10	9	9	3	1	2	1	0	0	2	3	3	2	3	1	1	2	2	1	1	5	4	rs144596551	byFrequency	TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr1:196918732G>A	ENST00000367415.4	+	2	320	c.206G>A	c.(205-207)cGc>cAc	p.R69H	CFHR2_ENST00000367421.3_Missense_Mutation_p.R69H|CFHR2_ENST00000476712.1_3'UTR	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	69	Sushi 1.					extracellular region		p.R69H(1)		large_intestine(2)|ovary(1)|skin(3)	6						TTTTGGACTCGCATAACGTGC	0.393													4	110					0	0	1	0	0	A	196918732	G	A	196918732	3	1	32	1	0	0	0	0	1	0	0	0	3307	1087	38	1	212	1	CFHR2	1	196918732	Missense_Mutation	SNP	G	TCGA-CH-5794-01A-11D-1576-08	38333667	196918732	52331889	3	1755											
CCDC121	79635	broad.mit.edu	37	chr2	27850383	27850383	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcttcaaactggattggataTtttccttttgcaagagcgct	9	15	9	8	1	1	1	1	0	0	1	2	3	2	3	1	2	3	3	1	2	3	7			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr2:27850383T>C	ENST00000324364.3	-	2	464	c.284A>G	c.(283-285)aAt>aGt	p.N95S	RP11-158I13.2_ENST00000505973.1_RNA|CCDC121_ENST00000394775.3_Missense_Mutation_p.N257S|ZNF512_ENST00000556601.1_Intron	NM_024584.4	NP_078860.2	Q6ZUS5	CC121_HUMAN	coiled-coil domain containing 121	95								p.N95S(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(172;0.155)					GGATTGGATATTTTCCTTTTG	0.393													158	322					0	0	1	0	0	C	27850383	T	C	27850383	3	2	32	1	0	0	0	0	1	0	0	0	2775	1493	52	3	556	3	CCDC121	2	27850383	Missense_Mutation	SNP	T	TCGA-CH-5794-01A-11D-1576-08		27850383	215348990	4	1756											
ITGA4	3676	broad.mit.edu	37	chr2	182376434	182376434	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttatttccagataaacttTgcaaggttttgtgcccatga	10	17	7	7	0	0	2	0	1	0	1	1	2	1	2	2	1	3	2	2	1	4	7			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr2:182376434T>C	ENST00000397033.2	+	17	2284	c.1854T>C	c.(1852-1854)ttT>ttC	p.F618F		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	618					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	p.F618F(2)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	AGATAAACTTTGCAAGGTTTT	0.303													62	181					0	0	1	0	0	C	182376434	T	C	182376434	2	2	32	1	0	0	0	0	0	0	0	1	7922	1809	63	3		3	ITGA4	2	182376434	Silent	SNP	T	TCGA-CH-5794-01A-11D-1576-08	154526051	182376434	60822939	5	1757											
AGFG1	3267	broad.mit.edu	37	chr2	228389506	228389506	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaggtcgttctcaagggcAgcagcaggagaagaagcaat	13	7	14	7	1	1	2	1	0	1	2	3	3	1	2	0	3	3	6	0	3	5	2			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr2:228389506A>C	ENST00000310078.7	+	5	829	c.569A>C	c.(568-570)cAg>cCg	p.Q190P	AGFG1_ENST00000409171.1_Missense_Mutation_p.Q190P|AGFG1_ENST00000486932.1_3'UTR|AGFG1_ENST00000373671.3_Missense_Mutation_p.Q190P|AGFG1_ENST00000409315.1_Missense_Mutation_p.Q190P|AGFG1_ENST00000409979.2_Missense_Mutation_p.Q190P	NM_001135188.1|NM_004504.4	NP_001128660.1|NP_004495.2	P52594	AGFG1_HUMAN	ArfGAP with FG repeats 1	190					cell differentiation|mRNA export from nucleus|multicellular organismal development|regulation of ARF GTPase activity|spermatogenesis	cytoplasmic membrane-bounded vesicle|Golgi apparatus|nuclear pore	ARF GTPase activator activity|DNA binding|protein binding|RNA binding|zinc ion binding	p.Q190P(1)		central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						TCTCAAGGGCAGCAGCAGGAG	0.423													57	194					0	0	1	0	0	C	228389506	A	C	228389506	3	2	32	1	0	0	0	0	1	0	0	0	377	188	7	5	587	5	AGFG1	2	228389506	Missense_Mutation	SNP	A	TCGA-CH-5794-01A-11D-1576-08	46013072	228389506	14809867	6	1758											
VGLL4	9686	broad.mit.edu	37	chr3	11744501	11744501	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacaaaacatccaatggcGtctccattcctggttggagc	10	10	10	11	1	1	0	0	0	1	0	4	2	3	2	3	4	2	1	3	4	3	2			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr3:11744501G>A	ENST00000404339.1	-	0	358				VGLL4_ENST00000273038.3_Missense_Mutation_p.T3M			Q14135	VGLL4_HUMAN	vestigial like 4 (Drosophila)						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.T3M(1)		NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)		ATCCAATGGCGTCTCCATTCC	0.368													11	44					0	0	1	0	0	A	11744501	G	A	11744501	1	1	32	1	0	0	0	0	0	0	0	0	17221	1145	40	1		1	VGLL4	3	11744501	Translation_Start_Site	SNP	G	TCGA-CH-5794-01A-11D-1576-08		11744501	186277929	7	1759											
AMIGO3	386724	broad.mit.edu	37	chr3	49755885	49755885	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctcctgtacgttgcctatGgccaagctgccgtcggccag	5	10	12	14	3	0	0	0	0	0	0	2	0	1	0	5	2	5	4	5	2	3	3			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr3:49755885G>A	ENST00000535833.1	-	10	4464	c.1014C>T	c.(1012-1014)gcC>gcT	p.A338A	RNF123_ENST00000433785.1_Intron|RNF123_ENST00000327697.6_Intron|AMIGO3_ENST00000320431.7_Silent_p.A338A|RNF123_ENST00000497099.1_3'UTR|GMPPB_ENST00000480687.1_3'UTR			Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	338	Ig-like C2-type.				heterophilic cell-cell adhesion	integral to membrane		p.A338A(1)		endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CGTTGCCTATGGCCAAGCTGC	0.667													9	34					0	0	1	0	0	A	49755885	G	A	49755885	2	1	32	1	0	0	0	0	0	0	0	1	573	1335	47	2		2	AMIGO3	3	49755885	Silent	SNP	G	TCGA-CH-5794-01A-11D-1576-08	38011384	49755885	148266545	8	1760											
PDZRN3	23024	broad.mit.edu	37	chr3	73432968	73432968	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caccttccactccatgcgcgGctccgacggggtgggagagc	6	6	14	15	4	0	1	0	0	0	1	3	3	3	1	4	4	2	1	4	4	0	1			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr3:73432968G>A	ENST00000263666.4	-	10	2863	c.2749C>T	c.(2749-2751)Ccg>Tcg	p.P917S	PDZRN3_ENST00000479530.1_Missense_Mutation_p.P634S|PDZRN3_ENST00000535920.1_Missense_Mutation_p.P639S|PDZRN3_ENST00000462146.2_Missense_Mutation_p.P574S|PDZRN3_ENST00000466780.1_Missense_Mutation_p.P574S	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	917							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TCCATGCGCGGCTCCGACGGG	0.652													3	81					0	0	1	0	0	A	73432968	G	A	73432968	3	1	32	1	0	0	0	0	1	0	0	0	11756	1203	42	2	455	2	PDZRN3	3	73432968	Missense_Mutation	SNP	G	TCGA-CH-5794-01A-11D-1576-08	23677083	73432968	124589462	9	1761											
GPR160	26996	broad.mit.edu	37	chr3	169802125	169802125	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttgtatagattattgccTgaatttctctaaaacaacca	14	14	5	8	0	1	2	0	1	1	1	2	2	1	2	2	0	4	2	2	0	7	7			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr3:169802125T>C	ENST00000355897.5	+	4	973	c.365T>C	c.(364-366)cTg>cCg	p.L122P		NM_014373.2	NP_055188.1	Q9UJ42	GP160_HUMAN	G protein-coupled receptor 160	122						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)	8	all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			GATTATTGCCTGAATTTCTCT	0.289													3	101					0	0	1	0	0	C	169802125	T	C	169802125	3	2	32	1	0	0	0	0	1	0	0	0	6704	1580	55	3	367	3	GPR160	3	169802125	Missense_Mutation	SNP	T	TCGA-CH-5794-01A-11D-1576-08	96369157	169802125	28220305	10	1762											
AFAP1	60312	broad.mit.edu	37	chr4	7787976	7787976	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgccgtcccgctggggtggGcatagccgttggaggtgccc	3	8	18	12	3	0	0	0	0	0	0	1	1	1	1	4	5	3	3	4	5	1	2			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr4:7787976G>A	ENST00000420658.1	-	12	1747	c.1475C>T	c.(1474-1476)gCc>gTc	p.A492V	AFAP1_ENST00000360265.4_Missense_Mutation_p.A492V|AFAP1_ENST00000513842.1_5'UTR|AFAP1_ENST00000358461.2_Missense_Mutation_p.A492V|AFAP1_ENST00000382543.3_Missense_Mutation_p.A492V	NM_001134647.1	NP_001128119.1	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	492						actin cytoskeleton|cytoplasm|focal adhesion	actin binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						GCTGGGGTGGGCATAGCCGTT	0.493													4	218					0	0	1	0	0	A	7787976	G	A	7787976	3	1	32	1	0	0	0	0	1	0	0	0	352	1203	42	2	997	2	AFAP1	4	7787976	Missense_Mutation	SNP	G	TCGA-CH-5794-01A-11D-1576-08		7787976	183366300	11	1763											
ANKRD50	57182	broad.mit.edu	37	chr4	125591185	125591185	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccatttttggctgcaacacGcatagcagtgcgtccaaatt	10	12	8	11	2	0	0	0	0	0	0	2	0	2	0	2	1	4	4	2	1	3	4			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr4:125591185G>A	ENST00000504087.1	-	4	4284	c.3247C>T	c.(3247-3249)Cgt>Tgt	p.R1083C	ANKRD50_ENST00000515641.1_Missense_Mutation_p.R904C	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1083								p.R1083C(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						GCTGCAACACGCATAGCAGTG	0.418													5	136					0	0	1	0	0	A	125591185	G	A	125591185	3	1	32	1	0	0	0	0	1	0	0	0	671	1087	38	1	1046	1	ANKRD50	4	125591185	Missense_Mutation	SNP	G	TCGA-CH-5794-01A-11D-1576-08	117803209	125591185	65563091	12	1764											
RAI14	26064	broad.mit.edu	37	chr5	34826505	34826505	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctctcccagctctcctactCaacaagctcatccaaaaggc	11	8	4	18	0	4	0	2	0	2	0	7	0	5	0	4	1	4	2	4	1	5	1			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr5:34826505C>G	ENST00000265109.3	+	16	3007	c.2720C>G	c.(2719-2721)tCa>tGa	p.S907*	RAI14_ENST00000506376.1_Nonsense_Mutation_p.S899*|RAI14_ENST00000397449.1_Nonsense_Mutation_p.S900*|RAI14_ENST00000428746.2_Nonsense_Mutation_p.S907*|RAI14_ENST00000503673.1_Nonsense_Mutation_p.S907*|RAI14_ENST00000515799.1_Nonsense_Mutation_p.S910*|RAI14_ENST00000512629.1_Nonsense_Mutation_p.S878*	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	907						cell cortex|cytoskeleton	protein binding	p.S907*(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					CTCTCCTACTCAACAAGCTCA	0.512													28	67					0	0	1	0	0	G	34826505	C	G	34826505	4	3	32	1	0	0	0	0	0	1	0	0	13060	838	29	4	2843	4	RAI14	5	34826505	Nonsense_Mutation	SNP	C	TCGA-CH-5794-01A-11D-1576-08		34826505	146088755	13	1765											
HCN1	348980	broad.mit.edu	37	chr5	45262494	45262494	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gactgctgtacctgctgctgCggctgctgttgcatgagtga	5	12	14	10	1	0	2	0	2	0	0	0	3	0	2	1	1	7	8	1	1	1	2			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr5:45262494C>T	ENST00000303230.4	-	8	2259	c.2202G>A	c.(2200-2202)ccG>ccA	p.P734P		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	734	Gln-rich.					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.P734P(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						cctgctgctgcggctgctgtt	0.652													6	13					0	0	1	0	0	T	45262494	C	T	45262494	2	4	32	1	0	0	0	0	0	0	0	1	7037	755	27	1		1	HCN1	5	45262494	Silent	SNP	C	TCGA-CH-5794-01A-11D-1576-08	10435989	45262494	135652766	14	1766											
SLCO6A1	133482	broad.mit.edu	37	chr5	101813486	101813486	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcacagtctgcccaaggatGaagaaagacaggtattttga	14	9	11	7	0	1	4	0	2	1	2	1	5	1	5	1	2	2	2	1	2	4	3	rs145273103		TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr5:101813486G>A	ENST00000506729.1	-	3	867	c.696C>T	c.(694-696)ttC>ttT	p.F232F	SLCO6A1_ENST00000379807.3_Silent_p.F232F|SLCO6A1_ENST00000389019.3_Intron|SLCO6A1_ENST00000514551.1_Intron|SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000513675.1_Intron			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	232						integral to membrane|plasma membrane	transporter activity	p.F232F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		GCCCAAGGATGAAGAAAGACA	0.383													77	206					0	0	1	0	0	A	101813486	G	A	101813486	2	1	32	1	0	0	0	0	0	0	0	1	14787	1281	45	2		2	SLCO6A1	5	101813486	Silent	SNP	G	TCGA-CH-5794-01A-11D-1576-08	56550992	101813486	79101774	15	1767											
ADAMTS19	171019	broad.mit.edu	37	chr5	128957923	128957923	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taactgcttgctacaaacaaAtccgcagagtgtcaattctg	13	11	7	10	1	2	1	1	0	1	1	3	1	3	1	1	0	5	3	1	0	5	4			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr5:128957923A>C	ENST00000274487.4	+	10	1779	c.1634A>C	c.(1633-1635)aAt>aCt	p.N545T	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	545	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.N545T(2)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		CTACAAACAAATCCGCAGAGT	0.428													28	70					0	0	1	0	0	C	128957923	A	C	128957923	3	2	32	1	0	0	0	0	1	0	0	0	263	101	4	5	1672	5	ADAMTS19	5	128957923	Missense_Mutation	SNP	A	TCGA-CH-5794-01A-11D-1576-08	27144437	128957923	51957337	16	1768											
GMDS	2762	broad.mit.edu	37	chr6	1624710	1624710	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccctaagagatactcacatcGaaagcgacccggggcttcca	12	6	9	14	3	1	1	1	0	0	1	3	4	2	1	3	2	2	1	3	2	3	3			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr6:1624710G>A	ENST00000380815.4	-	10	1322	c.1053C>T	c.(1051-1053)ttC>ttT	p.F351F	GMDS_ENST00000467288.2_5'UTR|GMDS_ENST00000530927.1_Silent_p.F321F	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	351					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity	p.F351F(1)	GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		TACTCACATCGAAAGCGACCC	0.667													3	24					0	0	1	0	0	A	1624710	G	A	1624710	2	1	32	1	0	0	0	0	0	0	0	1	6528	1049	37	1		1	GMDS	6	1624710	Silent	SNP	G	TCGA-CH-5794-01A-11D-1576-08		1624710	169490357	17	1769											
HIST1H4K	8362	broad.mit.edu	37	chr6	27799301	27799301	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcccgcctttgccgcggccaGacatgacgagcaagaggagt	9	6	13	13	4	0	3	0	1	0	2	1	5	1	4	4	2	2	1	4	2	1	1			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr6:27799301G>C	ENST00000357549.2	-	1	4	c.5C>G	c.(4-6)tCt>tGt	p.S2C		NM_003541.2	NP_003532.1	P62805	H4_HUMAN	histone cluster 1, H4k	2					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	p.S2C(1)		breast(1)|endometrium(1)|lung(3)|ovary(1)|prostate(1)	7						GCCGCGGCCAGACATGACGAG	0.592													16	68					0	0	1	0	0	C	27799301	G	C	27799301	3	2	32	1	0	0	0	0	1	0	0	0	7216	942	33	4	310	4	HIST1H4K	6	27799301	Missense_Mutation	SNP	G	TCGA-CH-5794-01A-11D-1576-08	26174591	27799301	143315766	18	1770											
PTK7	0	broad.mit.edu	37	chr6	43106701	43106701	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacagttgtctggtacagaaAccagatgctcatctcagagg	12	10	10	9	0	3	3	2	0	2	3	4	3	3	3	1	2	4	3	1	2	3	3			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr6:43106701A>G	ENST00000230419.4	+	8	1564	c.1343A>G	c.(1342-1344)aAc>aGc	p.N448S	PTK7_ENST00000345201.2_Missense_Mutation_p.N448S|PTK7_ENST00000481273.1_Missense_Mutation_p.N456S|PTK7_ENST00000352931.2_Missense_Mutation_p.N448S|PTK7_ENST00000349241.2_Intron	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	448	Ig-like C2-type 5.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			TGGTACAGAAACCAGATGCTC	0.557													3	110					0	0	1	0	0	G	43106701	A	G	43106701	3	3	32	1	0	0	0	0	1	0	0	0	12815	43	2	3	1373	3	PTK7	6	43106701	Missense_Mutation	SNP	A	TCGA-CH-5794-01A-11D-1576-08	15307400	43106701	128008366	19	1771											
HCRTR2	3062	broad.mit.edu	37	chr6	55147206	55147206	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agttgtgctcactagcataaGcacactcccagcagccaatg	12	8	8	13	0	1	0	1	0	0	0	2	0	2	0	2	0	5	5	2	0	3	3			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr6:55147206G>A	ENST00000370862.3	+	7	1625	c.1289G>A	c.(1288-1290)aGc>aAc	p.S430N		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	430					feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.S430N(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ACTAGCATAAGCACACTCCCA	0.408													11	25					0	0	1	0	0	A	55147206	G	A	55147206	3	1	32	1	0	0	0	0	1	0	0	0	7043	971	34	2	1315	2	HCRTR2	6	55147206	Missense_Mutation	SNP	G	TCGA-CH-5794-01A-11D-1576-08	12040505	55147206	115967861	20	1772											
COPS6	10980	broad.mit.edu	37	chr7	99686977	99686977	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcgctctccatccccttgtCattctcaacatctcagacca	8	12	4	17	1	4	1	3	0	3	1	9	1	5	1	4	0	1	1	4	0	1	2			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr7:99686977C>G	ENST00000303904.3	+	2	178	c.141C>G	c.(139-141)gtC>gtG	p.V47V	COPS6_ENST00000418625.1_Silent_p.V46V	NM_006833.4	NP_006824.2	Q7L5N1	CSN6_HUMAN	COP9 signalosome subunit 6	47	MPN.				cullin deneddylation|interspecies interaction between organisms	cytoplasm|signalosome	protein binding	p.V47V(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			ATCCCCTTGTCATTCTCAACA	0.592													75	191					0	0	1	0	0	G	99686977	C	G	99686977	2	3	32	1	0	0	0	0	0	0	0	1	3760	813	29	4		4	COPS6	7	99686977	Silent	SNP	C	TCGA-CH-5794-01A-11D-1576-08		99686977	59451686	21	1773											
LRCH4	4034	broad.mit.edu	37	chr7	100172836	100172836	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggggccagaggggcggtaggGccttgccccccacccgcttc	4	5	16	16	2	0	1	0	0	0	1	1	1	0	1	6	6	1	2	6	6	1	3			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr7:100172836G>A	ENST00000310300.6	-	18	1998	c.1946C>T	c.(1945-1947)gCc>gTc	p.A649V	LRCH4_ENST00000497245.1_Missense_Mutation_p.A197V	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	649	CH.				nervous system development	PML body	protein binding	p.A649V(1)		NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGGCGGTAGGGCCTTGCCCCC	0.697													5	13					0	0	1	0	0	A	100172836	G	A	100172836	3	1	32	1	0	0	0	0	1	0	0	0	8980	1203	42	2	109	2	LRCH4	7	100172836	Missense_Mutation	SNP	G	TCGA-CH-5794-01A-11D-1576-08	485859	100172836	58965827	22	1774											
NKX3-1	4824	broad.mit.edu	37	chr8	23538909	23538909	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctgctttcgcttagtcttaTagcgtctgttctggaaccat	6	16	9	10	2	3	0	0	0	3	0	4	1	3	1	1	1	3	4	1	1	4	5			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr8:23538909T>C	ENST00000380871.4	-	2	567	c.530A>G	c.(529-531)tAt>tGt	p.Y177C	NKX3-1_ENST00000523261.1_Missense_Mutation_p.Y102C	NM_006167.3	NP_006158.2	Q99801	NKX31_HUMAN	NK3 homeobox 1	177					negative regulation of estrogen receptor binding|negative regulation of transcription, DNA-dependent|positive regulation of cell division|positive regulation of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter	nucleus	estrogen receptor activity|estrogen receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region sequence-specific DNA binding	p.Y177C(2)		large_intestine(3)|lung(4)|prostate(5)|skin(2)	14		Prostate(55;0.114)		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)		CTTAGTCTTATAGCGTCTGTT	0.582													80	250					0	0	1	0	0	C	23538909	T	C	23538909	3	2	32	1	0	0	0	0	1	0	0	0	10502	1406	49	3	178	3	NKX3-1	8	23538909	Missense_Mutation	SNP	T	TCGA-CH-5794-01A-11D-1576-08		23538909	122825113	23	1775											
ALDOB	229	broad.mit.edu	37	chr9	104192139	104192139	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggaaaaggatcacacccccGatgctctggttgatggaact	11	9	11	10	1	2	1	1	1	1	0	2	5	2	4	2	4	2	2	2	4	3	1			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr9:104192139G>A	ENST00000374855.4	-	3	346	c.222C>T	c.(220-222)atC>atT	p.I74I	ALDOB_ENST00000468981.2_5'UTR	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	74			I -> T (in HFI; affects proper folding).		fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding	p.I74I(2)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				TCACACCCCCGATGCTCTGGT	0.532													94	247					0	0	1	0	0	A	104192139	G	A	104192139	2	1	32	1	0	0	0	0	0	0	0	1	505	1048	37	1		1	ALDOB	9	104192139	Silent	SNP	G	TCGA-CH-5794-01A-11D-1576-08		104192139	37021292	24	1776											
MUSK	4593	broad.mit.edu	37	chr9	113547892	113547892	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	accccatgtaccagaggatgCcgctccttctgaaccccaaa	11	7	7	16	1	1	2	0	1	1	1	2	3	2	3	7	1	3	2	7	1	3	2			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr9:113547892C>T	ENST00000416899.2	+	11	1774	c.1648C>T	c.(1648-1650)Ccg>Tcg	p.P550S	MUSK_ENST00000189978.5_Missense_Mutation_p.P558S|MUSK_ENST00000374448.4_Missense_Mutation_p.P558S|MUSK_ENST00000374438.1_Missense_Mutation_p.P74S			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	558					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						CCAGAGGATGCCGCTCCTTCT	0.498													4	253					0	0	1	0	0	T	113547892	C	T	113547892	3	4	32	1	0	0	0	0	1	0	0	0	10037	739	26	2	1754	2	MUSK	9	113547892	Missense_Mutation	SNP	C	TCGA-CH-5794-01A-11D-1576-08	9355753	113547892	27665539	25	1777											
FIBCD1	84929	broad.mit.edu	37	chr9	133799131	133799131	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccagcctgggacactcacCgtccagccgccgccgtccgt	5	5	11	20	5	1	0	1	0	0	0	3	1	3	1	8	1	2	0	8	1	0	0			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr9:133799131C>A	ENST00000372338.4	-	4	1091	c.849_splice	c.e4+1	p.T283_splice	FIBCD1_ENST00000372337.2_Splice_Site_p.T125_splice|FIBCD1_ENST00000253018.4_Splice_Site_p.T125_splice|FIBCD1_ENST00000448616.1_Splice_Site_p.T283_splice	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	283	Fibrinogen C-terminal.				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding	p.T283T(1)		kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		GGACACTCACCGTCCAGCCGC	0.682													9	16					0.000442599	0.000463676	1	1	0	A	133799131	C	A	133799131	5	1	32	1	0	0	0	0	0	0	1	0	5917	666	23	4	552	4	FIBCD1	9	133799131	Splice_Site	SNP	C	TCGA-CH-5794-01A-11D-1576-08	20251239	133799131	7414300	26	1778											
GRID1	2894	broad.mit.edu	37	chr10	87628819	87628819	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcagagcagggaggagatgCggtggttgttcctcgtgcat	7	9	17	8	3	0	2	0	0	0	2	2	4	1	3	1	4	3	5	1	4	0	2			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr10:87628819C>T	ENST00000327946.7	-	6	984	c.899G>A	c.(898-900)cGc>cAc	p.R300H		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	300						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.R300H(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	GGAGGAGATGCGGTGGTTGTT	0.567										Multiple Myeloma(13;0.14)			41	55					0	0	1	0	0	T	87628819	C	T	87628819	3	4	32	1	0	0	0	0	1	0	0	0	6812	768	27	1	2174	1	GRID1	10	87628819	Missense_Mutation	SNP	C	TCGA-CH-5794-01A-11D-1576-08		87628819	47905928	27	1779											
ARFGAP2	84364	broad.mit.edu	37	chr11	47198145	47198145	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaaaacaccgtacgtgatgCtggcccaactcggattcttg	11	9	10	11	3	1	2	0	1	1	1	2	3	1	3	2	2	4	2	2	2	4	3			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr11:47198145C>T	ENST00000524782.1	-	2	341	c.113G>A	c.(112-114)aGc>aAc	p.S38N	ARFGAP2_ENST00000426335.2_Missense_Mutation_p.S38N|ARFGAP2_ENST00000419701.2_5'UTR|ARFGAP2_ENST00000395449.3_5'UTR|ARFGAP2_ENST00000319543.6_5'UTR	NM_001242832.1|NM_032389.4	NP_001229761.1|NP_115765.2	Q8N6H7	ARFG2_HUMAN	ADP-ribosylation factor GTPase activating protein 2	38	Arf-GAP.				protein transport|regulation of ARF GTPase activity|vesicle-mediated transport	Golgi membrane|nucleolus|plasma membrane	ARF GTPase activator activity|zinc ion binding	p.S38N(1)		breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						GTACGTGATGCTGGCCCAACT	0.632													3	57					0	0	1	0	0	T	47198145	C	T	47198145	3	4	32	1	0	0	0	0	1	0	0	0	847	797	28	2	1512	2	ARFGAP2	11	47198145	Missense_Mutation	SNP	C	TCGA-CH-5794-01A-11D-1576-08		47198145	87808371	28	1780											
IGHMBP2	3508	broad.mit.edu	37	chr11	68682435	68682435	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctggatgcggttttagcgCggagcgacagtgcccagatt	7	9	14	11	4	0	1	0	0	0	1	0	4	0	3	2	3	4	1	2	3	1	3			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr11:68682435C>T	ENST00000255078.3	+	6	967	c.856C>T	c.(856-858)Cgg>Tgg	p.R286W		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	286	Leu-rich.				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding	p.R286W(2)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GGTTTTAGCGCGGAGCGACAG	0.597													37	135					0	0	1	0	0	T	68682435	C	T	68682435	3	4	32	1	0	0	0	0	1	0	0	0	7635	759	27	1	878	1	IGHMBP2	11	68682435	Missense_Mutation	SNP	C	TCGA-CH-5794-01A-11D-1576-08	21484290	68682435	66324081	29	1781											
GDPD5	81544	broad.mit.edu	37	chr11	75152348	75152349	+	Frame_Shift_Ins	INS	-	-	G																															acactcaggttccaggacgcINSgtagtccctgtggggcaggg																										TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr11:75152348_75152349insG	ENST00000526177.1	-	10	2796_2797	c.918_919insC	c.(916-921)tacgtcfs	p.V307fs	GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000533784.1_Frame_Shift_Ins_p.V326fs|GDPD5_ENST00000376282.3_Frame_Shift_Ins_p.V326fs|GDPD5_ENST00000533805.1_Frame_Shift_Ins_p.V200fs|GDPD5_ENST00000529721.1_Frame_Shift_Ins_p.V445fs|GDPD5_ENST00000336898.3_Frame_Shift_Ins_p.V445fs			Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	445	GDPD.				glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						TTCCAGGACGCGTAGTCCCTGT	0.629													20	80	---	---	---	---						G	75152349	-	G	75152348	7	5	32	1	0	1	1	0	0	0	0	0	6369	768	27	0	500	0	GDPD5	11	75152348	Frame_Shift_Ins	INS	-	TCGA-CH-5794-01A-11D-1576-08	6469913	75152348	59854168	30	1782											
FMNL3	91010	broad.mit.edu	37	chr12	50041517	50041519	+	In_Frame_Del	DEL	GGG	GGG	-																															gaatgaatcggacaaatactGggaagaatacagaaggaggt																										TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr12:50041517_50041519delGGG	ENST00000335154.5	-	23	2978_2980	c.2745_2747delCCC	c.(2743-2748)tta>tt	p.FP915del	FMNL3_ENST00000293590.5_In_Frame_Del_p.FP915del|FMNL3_ENST00000352151.5_In_Frame_Del_p.FP864del|FMNL3_ENST00000550488.1_In_Frame_Del_p.FP914del	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN	formin-like 3	915	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						GACAAATACTGGGAAGAATACAG	0.512													17	92	---	---	---	---						-	50041519	GGG	-	50041517	7	5	32	1	0	1	0	1	0	0	0	0	5986	1348	47	0	352	0	FMNL3	12	50041517	In_Frame_Del	DEL	GGG	TCGA-CH-5794-01A-11D-1576-08		50041517	83810378	31	1783											
ATP2A2	488	broad.mit.edu	37	chr12	110765384	110765384	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacattgctgctgggaaagcTatgggagtggtggtagcaac	11	9	15	6	0	0	0	0	0	0	0	0	2	0	2	0	4	6	5	0	4	5	3			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr12:110765384T>A	ENST00000395494.2	+	7	1139	c.576T>A	c.(574-576)gcT>gcA	p.A192A	ATP2A2_ENST00000539276.2_Silent_p.A219A|ATP2A2_ENST00000308664.6_Silent_p.A219A			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	219					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding	p.A219A(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						CTGGGAAAGCTATGGGAGTGG	0.468													100	239					0	0	1	0	0	A	110765384	T	A	110765384	2	1	32	1	0	0	0	0	0	0	0	1	1136	1509	53	5		5	ATP2A2	12	110765384	Silent	SNP	T	TCGA-CH-5794-01A-11D-1576-08	60723867	110765384	23086511	32	1784											
TEP1	7011	broad.mit.edu	37	chr14	20846220	20846220	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgtcagtaactggcaacccGcatgcaggaaaagcgcagca	13	4	11	13	3	1	0	1	0	0	0	1	1	1	1	2	2	5	6	2	2	4	1			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr14:20846220G>A	ENST00000262715.5	-	39	5724	c.5684C>T	c.(5683-5685)gCg>gTg	p.A1895V	TEP1_ENST00000556935.1_Missense_Mutation_p.A1787V|TEP1_ENST00000545983.1_Missense_Mutation_p.A233V	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1895					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CTGGCAACCCGCATGCAGGAA	0.592													3	82					0	0	1	0	0	A	20846220	G	A	20846220	3	1	32	1	0	0	0	0	1	0	0	0	15818	1087	38	1	2267	1	TEP1	14	20846220	Missense_Mutation	SNP	G	TCGA-CH-5794-01A-11D-1576-08		20846220	86503320	33	1785											
NOVA1	4857	broad.mit.edu	37	chr14	26917506	26917506	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agctccaaaatatccattggTtgcagcagtagcagcagcca	13	8	9	11	0	0	0	0	0	0	0	2	0	2	0	3	1	6	7	3	1	4	4			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr14:26917506T>A	ENST00000539517.2	-	5	1500	c.1183A>T	c.(1183-1185)Acc>Tcc	p.T395S	NOVA1_ENST00000267422.7_Missense_Mutation_p.T273S|NOVA1_ENST00000465357.2_Missense_Mutation_p.T371S	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	398	Ala-rich.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding	p.T395S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		TATCCATTGGTTGCAGCAGTA	0.522													13	36					0	0	1	0	0	A	26917506	T	A	26917506	3	1	32	1	0	0	0	0	1	0	0	0	10601	1725	60	5	344	5	NOVA1	14	26917506	Missense_Mutation	SNP	T	TCGA-CH-5794-01A-11D-1576-08	6071286	26917506	80432034	34	1786											
DDHD1	0	broad.mit.edu	37	chr14	53521264	53521264	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttccattgagtcttttgAtgtttcagatgactgtgttg	7	19	9	6	0	3	4	1	3	2	1	4	4	4	4	1	0	0	2	1	0	0	6			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr14:53521264A>G	ENST00000357758.3	-	11	2512	c.2329T>C	c.(2329-2331)Tca>Cca	p.S777P	DDHD1_ENST00000395606.1_Missense_Mutation_p.S784P|DDHD1_ENST00000323669.5_Missense_Mutation_p.S777P	NM_030637.2	NP_085140.2	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	777	DDHD.				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					GAGTCTTTTGATGTTTCAGAT	0.468													4	176					0	0	1	0	0	G	53521264	A	G	53521264	3	3	32	1	0	0	0	0	1	0	0	0	4349	333	12	3	385	3	DDHD1	14	53521264	Missense_Mutation	SNP	A	TCGA-CH-5794-01A-11D-1576-08	26603758	53521264	53828276	35	1787											
PCNX	22990	broad.mit.edu	37	chr14	71485847	71485847	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtcttccagttctgcctcGtcatagccagctgtcaatac	7	12	9	13	1	4	0	2	0	2	0	6	0	5	0	3	1	4	2	3	1	3	4			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr14:71485847G>A	ENST00000304743.2	+	12	3564	c.3118G>A	c.(3118-3120)Gtc>Atc	p.V1040I	PCNX_ENST00000439984.3_Missense_Mutation_p.V929I|PCNX_ENST00000238570.5_Missense_Mutation_p.V1040I	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1040						integral to membrane		p.V1040I(1)		NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GTTCTGCCTCGTCATAGCCAG	0.423													98	210					0	0	1	0	0	A	71485847	G	A	71485847	3	1	32	1	0	0	0	0	1	0	0	0	11638	1145	40	1	3164	1	PCNX	14	71485847	Missense_Mutation	SNP	G	TCGA-CH-5794-01A-11D-1576-08	17964583	71485847	35863693	36	1788											
XAB2	56949	broad.mit.edu	37	chr19	7691147	7691147	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtactcctctgcactctCaggactcagctggggaccga	9	9	10	13	1	3	0	2	0	2	0	5	3	4	2	2	3	3	3	2	3	2	1			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr19:7691147C>A	ENST00000358368.4	-	5	569	c.532G>T	c.(532-534)Gag>Tag	p.E178*	XAB2_ENST00000534844.1_Nonsense_Mutation_p.E175*	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	178					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						TCTGCACTCTCAGGACTCAGC	0.657								Direct reversal of damage;Nucleotide excision repair (NER)					4	211					1	1	1	1	0	A	7691147	C	A	7691147	4	1	32	1	0	0	0	0	0	1	0	0	17478	835	29	4	2095	4	XAB2	19	7691147	Nonsense_Mutation	SNP	C	TCGA-CH-5794-01A-11D-1576-08		7691147	51437836	37	1789											
OLFM2	93145	broad.mit.edu	37	chr19	9965490	9965490	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgatgaagtctcccagggtaCggaactccaggacccggcgg	9	6	14	12	3	1	2	0	2	1	0	3	4	2	4	3	5	2	1	3	5	3	1			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr19:9965490C>T	ENST00000264833.4	-	6	922	c.737G>A	c.(736-738)cGt>cAt	p.R246H	OLFM2_ENST00000590841.1_Missense_Mutation_p.R168H	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	246	Olfactomedin-like.					extracellular region		p.R246H(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						TCCCAGGGTACGGAACTCCAG	0.612													6	23					0	0	1	0	0	T	9965490	C	T	9965490	3	4	32	1	0	0	0	0	1	0	0	0	10901	536	19	1	631	1	OLFM2	19	9965490	Missense_Mutation	SNP	C	TCGA-CH-5794-01A-11D-1576-08	2274343	9965490	49163493	38	1790											
SUPT5H	6829	broad.mit.edu	37	chr19	39965235	39965235	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggctacaacccacacacGccaggctcaggcatcgagca	11	4	11	15	2	1	0	1	0	0	0	2	1	1	0	2	4	3	4	2	4	2	1	rs138311423		TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr19:39965235G>T	ENST00000599117.1	+	29	3268	c.2901G>T	c.(2899-2901)acG>acT	p.T967T	SUPT5H_ENST00000432763.2_Silent_p.T967T|SUPT5H_ENST00000598725.1_Silent_p.T967T|SUPT5H_ENST00000402194.2_Silent_p.T963T|SUPT5H_ENST00000359191.6_Silent_p.T963T			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	967	Pro-rich.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity	p.T967T(1)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			ACCCACACACGCCAGGCTCAG	0.607											OREG0025462	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	61					0.000602214	0.000621034	1	1	0	T	39965235	G	T	39965235	2	4	32	1	0	0	0	0	0	0	0	1	15455	1074	38	4		4	SUPT5H	19	39965235	Silent	SNP	G	TCGA-CH-5794-01A-11D-1576-08	29999745	39965235	19163748	39	1791											
LMTK3	114783	broad.mit.edu	37	chr19	49002387	49002389	+	In_Frame_Del	DEL	CCT	CCT	-																															gtcttcccctggggagctgcCctcctcctcctcctcttctt																										TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr19:49002387_49002389delCCT	ENST00000600059.1	-	11	2164_2166	c.1937_1939delAGG	c.(1936-1941)ggc>g	p.EG646del	LMTK3_ENST00000270238.3_In_Frame_Del_p.EG675del					lemur tyrosine kinase 3											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GGGGAGCTGCCCTCCTCCTCCTC	0.739													2	4	---	---	---	---						-	49002389	CCT	-	49002387	7	5	32	1	0	1	0	1	0	0	0	0	8901	623	22	0	2463	0	LMTK3	19	49002387	In_Frame_Del	DEL	CCT	TCGA-CH-5794-01A-11D-1576-08	9037152	49002387	10126596	40	1792											
ZNF528	84436	broad.mit.edu	37	chr19	52919410	52919410	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaactcatactgatgagaaGccttacaaatgtaataaatg	19	10	6	6	0	1	2	1	2	0	1	1	3	1	2	1	0	4	1	1	0	9	4			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr19:52919410G>T	ENST00000360465.3	+	7	1731	c.1305G>T	c.(1303-1305)aaG>aaT	p.K435N	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	435					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K435N(1)		breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		CTGATGAGAAGCCTTACAAAT	0.383													37	114					1.07637e-12	1.16459e-12	1	1	0	T	52919410	G	T	52919410	3	4	32	1	0	0	0	0	1	0	0	0	18026	962	34	4	1319	4	ZNF528	19	52919410	Missense_Mutation	SNP	G	TCGA-CH-5794-01A-11D-1576-08	3917023	52919410	6209573	41	1793											
LILRB5	0	broad.mit.edu	37	chr19	54754889	54754889	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actctctcagtgtccatctgTctgtcctcttctgcctgtct	3	17	6	15	0	7	0	1	0	6	0	10	0	9	0	3	0	1	0	3	0	0	1			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr19:54754889T>C	ENST00000450632.1	-	13	1823	c.1746A>G	c.(1744-1746)agA>agG	p.R582R	LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000345866.6_Intron			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	388					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGTCCATCTGTCTGTCCTCTT	0.597													3	34					0	0	1	0	0	C	54754889	T	C	54754889	2	2	32	1	0	0	0	0	0	0	0	1	8834	1682	58	3		3	LILRB5	19	54754889	Silent	SNP	T	TCGA-CH-5794-01A-11D-1576-08	1835479	54754889	4374094	42	1794											
NKX2-4	644524	broad.mit.edu	37	chr20	21377696	21377697	+	Frame_Shift_Ins	INS	-	-	C																															gctcgcccatgttgcccaggINSccgccgttgcagtagctgcc																										TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr20:21377696_21377697insC	ENST00000351817.4	-	1	969_970	c.341_342insG	c.(340-342)gctfs	p.A114fs		NM_033176.1	NP_149416.1	Q9H2Z4	NKX24_HUMAN	NK2 homeobox 4	114					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)|upper_aerodigestive_tract(1)	3						TGTTGCCCAGGCCGCCGTTGCA	0.752													2	4	---	---	---	---						C	21377697	-	C	21377696	7	5	32	1	0	1	1	0	0	0	0	0	10499	1190	42	0	730	0	NKX2-4	20	21377696	Frame_Shift_Ins	INS	-	TCGA-CH-5794-01A-11D-1576-08		21377696	41647824	43	1795											
NF2	4771	broad.mit.edu	37	chr22	30035110	30035110	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgtttcaaaggaagaacCagtcacctttcacttcttgg	11	13	8	9	0	4	2	3	1	1	1	4	3	4	3	2	2	1	1	2	2	3	4			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr22:30035110C>T	ENST00000338641.4	+	3	713	c.272C>T	c.(271-273)cCa>cTa	p.P91L	NF2_ENST00000403435.1_Missense_Mutation_p.P91L|NF2_ENST00000361676.4_Missense_Mutation_p.P49L|NF2_ENST00000397789.3_Missense_Mutation_p.P91L|NF2_ENST00000353887.4_Intron|NF2_ENST00000403999.3_Missense_Mutation_p.P91L|NF2_ENST00000361166.4_Missense_Mutation_p.P91L|NF2_ENST00000347330.5_Intron|NF2_ENST00000413209.2_Missense_Mutation_p.P91L|NF2_ENST00000334961.7_Intron|NF2_ENST00000361452.4_Intron	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	91	FERM.				actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.?(3)|p.H84_F100del(1)|p.V86_Q111>E(1)|p.P91L(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						AAGGAAGAACCAGTCACCTTT	0.423			"D, Mis, N, F, S, O"		"meningioma, acoustic neuroma, renal "	"meningioma, acoustic neuroma"			Neurofibromatosis, type 2				35	88					0	0	1	0	0	T	30035110	C	T	30035110	3	4	32	1	0	0	0	0	1	0	0	0	10404	594	21	2	282	2	NF2	22	30035110	Missense_Mutation	SNP	C	TCGA-CH-5794-01A-11D-1576-08		30035110	21269456	44	1796											
XRCC6	2547	broad.mit.edu	37	chr22	42059704	42059704	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacccacatcagcaagggtaCgctgggcaagttcactgtgc	10	7	12	12	1	2	0	2	0	0	0	2	1	2	0	1	2	3	5	1	2	3	2			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chr22:42059704C>T	ENST00000359308.4	+	12	2370	c.1715C>T	c.(1714-1716)aCg>aTg	p.T572M	XRCC6_ENST00000428575.2_Missense_Mutation_p.T439M|XRCC6_ENST00000360079.3_Missense_Mutation_p.T572M|XRCC6_ENST00000405878.1_Missense_Mutation_p.T572M|XRCC6_ENST00000405506.1_Missense_Mutation_p.T522M|XRCC6_ENST00000402580.3_Missense_Mutation_p.T531M			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	572					DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding	p.T572M(2)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						AGCAAGGGTACGCTGGGCAAG	0.562								Non-homologous end-joining					33	128					0	0	1	0	0	T	42059704	C	T	42059704	3	4	32	1	0	0	0	0	1	0	0	0	17517	536	19	1	1761	1	XRCC6	22	42059704	Missense_Mutation	SNP	C	TCGA-CH-5794-01A-11D-1576-08	12024594	42059704	9244862	45	1797											
ZNF182	7569	broad.mit.edu	37	chrX	47837103	47837103	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagcactcttggtgataattGttttcttgtcagaaaatcca	11	15	8	7	0	3	2	1	1	2	1	4	3	4	2	1	1	1	2	1	1	3	6			TCGA-CH-5794-01A-11D-1576-08	TCGA-CH-5794-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c91139ac-56d3-49cd-852b-9732dfb3e77e	f61e6c4e-baf6-48ca-aecd-0e3ca77aeeb0	g.chrX:47837103G>T	ENST00000396965.1	-	7	733	c.383C>A	c.(382-384)aCa>aAa	p.T128K	ZNF182_ENST00000305127.6_Missense_Mutation_p.T128K|ZNF182_ENST00000376943.3_Missense_Mutation_p.T109K	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T128K(1)		endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						GGTGATAATTGTTTTCTTGTC	0.388													6	63					2.0095e-06	2.13914e-06	1	1	0	T	47837103	G	T	47837103	3	4	32	1	0	0	0	0	1	0	0	0	17808	1377	48	4	1540	4	ZNF182	23	47837103	Missense_Mutation	SNP	G	TCGA-CH-5794-01A-11D-1576-08		47837103	107433457	46	1798											
ASH1L	55870	broad.mit.edu	37	chr1	155448689	155448689	+	Frame_Shift_Del	DEL	A	A	-																															ggatgtgtatagaaactattAaagttgattcgaaagatagt																										TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr1:155448689delA	ENST00000368346.3	-	3	4611	c.3972delT	c.(3970-3972)ttfs	p.F1324fs	ASH1L_ENST00000392403.3_Frame_Shift_Del_p.F1324fs			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1324					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AGAAACTATTAAAGTTGATTC	0.408													7	268	---	---	---	---						-	155448689	A	-	155448689	7	5	33	1	0	1	0	1	0	0	0	0	1040	359	13	0	5026	0	ASH1L	1	155448689	Frame_Shift_Del	DEL	A	TCGA-EJ-5494-01A-01D-1576-08		155448689	93801932	1	1799											
FCRL4	83417	broad.mit.edu	37	chr1	157551405	157551405	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctccagtggctcccgcggCgacaaggccatctctgttgc	5	8	11	17	3	1	0	0	0	1	0	4	1	3	0	4	3	1	2	4	3	1	1	rs143188744	byFrequency	TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr1:157551405C>T	ENST00000271532.1	-	7	1300	c.1165G>A	c.(1165-1167)Gcc>Acc	p.A389T	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	389						integral to membrane|plasma membrane	receptor activity	p.A389T(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				GCTCCCGCGGCGACAAGGCCA	0.572													5	44					0	0	1	0	0	T	157551405	C	T	157551405	3	4	33	1	0	0	0	0	1	0	0	0	5830	768	27	1	406	1	FCRL4	1	157551405	Missense_Mutation	SNP	C	TCGA-EJ-5494-01A-01D-1576-08	2102716	157551405	91699216	2	1800											
HMCN1	83872	broad.mit.edu	37	chr1	186147655	186147655	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacaacatttattaggggacGggaaatcttgcgctggattg	11	11	13	6	2	1	0	0	0	1	0	1	4	1	3	0	4	2	1	0	4	4	5	rs144069476	by1000genomes	TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr1:186147655G>A	ENST00000271588.4	+	104	16280	c.16051G>A	c.(16051-16053)Ggg>Agg	p.G5351R	HMCN1_ENST00000367492.2_Intron	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5351	EGF-like 6; calcium-binding (Potential).				response to stimulus|visual perception	basement membrane	calcium ion binding	p.G5351W(1)|p.G5351R(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATTAGGGGACGGGAAATCTTG	0.483													11	333					0	0	1	0	0	A	186147655	G	A	186147655	3	1	33	1	0	0	0	0	1	0	0	0	7261	1116	39	1	16465	1	HMCN1	1	186147655	Missense_Mutation	SNP	G	TCGA-EJ-5494-01A-01D-1576-08	28596250	186147655	63102966	3	1801											
HHIPL2	79802	broad.mit.edu	37	chr1	222717002	222717002	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatagaacttgcgattgtggCggaatttggggtgaaaagcc	11	11	14	5	2	0	2	0	1	0	1	0	4	0	3	1	4	3	0	1	4	6	5			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr1:222717002C>T	ENST00000343410.6	-	2	909	c.851G>A	c.(850-852)cGc>cAc	p.R284H		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	284					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	p.R284H(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		GCGATTGTGGCGGAATTTGGG	0.483													8	236					0	0	1	0	0	T	222717002	C	T	222717002	3	4	33	1	0	0	0	0	1	0	0	0	7135	768	27	1	1355	1	HHIPL2	1	222717002	Missense_Mutation	SNP	C	TCGA-EJ-5494-01A-01D-1576-08	36569347	222717002	26533619	4	1802											
UBR3	130507	broad.mit.edu	37	chr2	170930058	170930058	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagttccagcatttgatattAtaactcagtggtgttttgag	10	16	9	6	0	1	2	1	2	0	0	2	2	2	2	1	1	2	3	1	1	3	7			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr2:170930058A>G	ENST00000272793.5	+	36	5190	c.5140A>G	c.(5140-5142)Ata>Gta	p.I1714V	UBR3_ENST00000418381.1_Missense_Mutation_p.I1714V|UBR3_ENST00000392631.1_Missense_Mutation_p.I535V			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1714					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding	p.I567V(1)|p.I1714V(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						ATTTGATATTATAACTCAGTG	0.418													91	137					0	0	1	0	0	G	170930058	A	G	170930058	3	3	33	1	0	0	0	0	1	0	0	0	16964	449	16	3	5282	3	UBR3	2	170930058	Missense_Mutation	SNP	A	TCGA-EJ-5494-01A-01D-1576-08		170930058	72269315	5	1803											
CXCR1	3577	broad.mit.edu	37	chr2	219028938	219028938	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaggaggtaacacgatgacGtgccaagaactccttgctga	12	8	12	9	2	0	3	0	2	0	1	1	5	1	4	2	2	4	3	2	2	4	3	rs140349292	byFrequency	TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr2:219028938G>A	ENST00000295683.2	-	2	1117	c.997C>T	c.(997-999)Cgt>Tgt	p.R333C		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	333					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity	p.R333C(1)		endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						ACACGATGACGTGCCAAGAAC	0.468													8	107					0	0	1	0	0	A	219028938	G	A	219028938	3	1	33	1	0	0	0	0	1	0	0	0	4113	1145	40	1	59	1	CXCR1	2	219028938	Missense_Mutation	SNP	G	TCGA-EJ-5494-01A-01D-1576-08	48098880	219028938	24170435	6	1804											
SCN11A	11280	broad.mit.edu	37	chr3	38936053	38936053	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggctcaggttgtgtgatgcGctgtgcattatcttcaccag	7	13	12	9	1	3	1	2	1	1	0	3	1	3	1	1	2	2	4	1	2	1	3			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr3:38936053G>A	ENST00000302328.3	-	15	3004	c.2806C>T	c.(2806-2808)Cgc>Tgc	p.R936C	SCN11A_ENST00000456224.3_Missense_Mutation_p.R936C|SCN11A_ENST00000444237.2_Missense_Mutation_p.R936C|SCN11A_ENST00000450244.1_Missense_Mutation_p.R936C	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	936					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TGTGTGATGCGCTGTGCATTA	0.493													10	480					0	0	1	0	0	A	38936053	G	A	38936053	3	1	33	1	0	0	0	0	1	0	0	0	13967	1087	38	1	2617	1	SCN11A	3	38936053	Missense_Mutation	SNP	G	TCGA-EJ-5494-01A-01D-1576-08		38936053	159086377	7	1805											
CTNNB1	1499	broad.mit.edu	37	chr3	41266098	41266098	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcaacagtcttacctggActctggaatccattctggtg	9	11	10	11	0	3	0	0	0	3	0	4	2	4	2	2	3	3	2	2	3	3	2	rs121913396		TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr3:41266098A>T	ENST00000349496.5	+	3	375	c.95A>T	c.(94-96)gAc>gTc	p.D32V	CTNNB1_ENST00000396183.3_Missense_Mutation_p.D32V|CTNNB1_ENST00000453024.1_Missense_Mutation_p.D25V|CTNNB1_ENST00000396185.3_Missense_Mutation_p.D32V|CTNNB1_ENST00000405570.1_Missense_Mutation_p.D32V	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	32			D -> A (in hepatocellular carcinoma).|D -> G (in PTR and hepatocellular carcinoma).|D -> Y (in PTR, hepatoblastoma and hepatocellular carcinoma; dbSNP:rs28931588).|Missing (in hepatocellular carcinoma).		adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.D32G(65)|p.A5_A80del(53)|p.D32V(33)|p.D32A(16)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.WQQQSYLD25?(5)|p.W25_D32del(4)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.S23_S33del(2)|p.V22_S33del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.Y30_S33del(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.S29_H36del(1)|p.D32del(1)|p.M14_S45del(1)|p.Q28_D32>H(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.Y30_A97del(1)|p.W25_S33del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.D32fs*9(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.Y30_A80del(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.W25_I35del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.A5_I35del(1)|p.D32_H36del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	TCTTACCTGGACTCTGGAATC	0.483	D32V(HEC265_ENDOMETRIUM)|D32V(HEC6_ENDOMETRIUM)	15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of				5	52					0	0	1	0	0	T	41266098	A	T	41266098	3	4	33	1	0	0	0	0	1	0	0	0	4040	275	10	5	101	5	CTNNB1	3	41266098	Missense_Mutation	SNP	A	TCGA-EJ-5494-01A-01D-1576-08	2330045	41266098	156756332	8	1806											
FHIT	2272	broad.mit.edu	37	chr3	59999869	59999869	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactggccgcagcgggcacAcaaggacatctgtagcaagg	11	4	13	13	2	1	0	0	0	1	0	1	1	1	1	2	4	2	4	2	4	3	1			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr3:59999869A>G	ENST00000468189.1	-	6	483	c.113T>C	c.(112-114)gTg>gCg	p.V38A	FHIT_ENST00000492590.1_Missense_Mutation_p.V38A|FHIT_ENST00000341848.4_Missense_Mutation_p.V38A|FHIT_ENST00000476844.1_Missense_Mutation_p.V38A|FHIT_ENST00000466788.1_Intron			P49789	FHIT_HUMAN	fragile histidine triad	38	HIT.				nucleotide metabolic process		bis(5'-adenosyl)-triphosphatase activity|protein binding	p.V38A(2)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)	12		all_cancers(2;2.37e-314)|all_epithelial(2;5.17e-286)|Colorectal(2;1.24e-68)|all_lung(2;1.31e-45)|Lung NSC(2;1.79e-44)|all_hematologic(2;1.59e-23)|Renal(2;1.03e-13)|Breast(2;1.06e-10)|Esophageal squamous(2;6.31e-09)|Melanoma(2;1.83e-07)|Acute lymphoblastic leukemia(2;5.46e-05)|all_neural(2;0.00118)|Medulloblastoma(2;0.00263)|Hepatocellular(2;0.0245)|Ovarian(2;0.0408)		UCEC - Uterine corpus endometrioid carcinoma (45;0.0887)|Epithelial(1;9.28e-70)|all cancers(1;3.07e-60)|Colorectal(1;2.33e-53)|STAD - Stomach adenocarcinoma(1;7.22e-48)|COAD - Colon adenocarcinoma(3;1.05e-44)|READ - Rectum adenocarcinoma(3;2.41e-08)|KIRC - Kidney renal clear cell carcinoma(10;0.000109)|Kidney(10;0.000125)|Lung(1;0.000161)|LUSC - Lung squamous cell carcinoma(1;0.000742)|OV - Ovarian serous cystadenocarcinoma(275;0.00372)|BRCA - Breast invasive adenocarcinoma(55;0.00448)		CAGCGGGCACACAAGGACATC	0.542			T	HMGA2	pleomorphic salivary gland adenoma				Renal Cell Cancer associated with constitutional translocation of chromosome 3				6	84					0	0	1	0	0	G	59999869	A	G	59999869	3	3	33	1	0	0	0	0	1	0	0	0	5910	159	6	3	346	3	FHIT	3	59999869	Missense_Mutation	SNP	A	TCGA-EJ-5494-01A-01D-1576-08	18733771	59999869	138022561	9	1807											
LIMCH1	22998	broad.mit.edu	37	chr4	41621299	41621299	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcggacttcccatggtgaGccgaaatcagcagtgccttt	8	9	12	12	3	1	1	1	1	0	0	2	3	2	2	3	3	3	1	3	3	1	2			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr4:41621299G>A	ENST00000313860.7	+	8	831	c.777G>A	c.(775-777)gaG>gaA	p.E259E	LIMCH1_ENST00000381753.4_Silent_p.E105E|LIMCH1_ENST00000514096.1_Silent_p.E112E|LIMCH1_ENST00000511496.1_Silent_p.E100E|LIMCH1_ENST00000396595.3_Silent_p.E105E|LIMCH1_ENST00000512632.1_Silent_p.E259E|LIMCH1_ENST00000513024.1_Silent_p.E100E|LIMCH1_ENST00000512820.1_Silent_p.E259E|LIMCH1_ENST00000509638.1_Silent_p.E100E|LIMCH1_ENST00000509277.1_Silent_p.E105E|LIMCH1_ENST00000512946.1_Silent_p.E259E|LIMCH1_ENST00000503057.1_Silent_p.E100E|LIMCH1_ENST00000508501.1_Silent_p.E259E|LIMCH1_ENST00000509454.1_Silent_p.E107E	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	259					actomyosin structure organization		actin binding|zinc ion binding	p.E259E(1)|p.E100E(1)		central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						CCCATGGTGAGCCGAAATCAG	0.547													18	261					0	0	1	0	0	A	41621299	G	A	41621299	2	1	33	1	0	0	0	0	0	0	0	1	8837	962	34	2		2	LIMCH1	4	41621299	Silent	SNP	G	TCGA-EJ-5494-01A-01D-1576-08		41621299	149532977	10	1808											
LRRC66	339977	broad.mit.edu	37	chr4	52861922	52861922	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgtcatcgtagaagccctcGtttgaatacgcgttgtccag	9	12	10	10	4	1	2	1	1	0	1	4	2	2	2	2	0	2	3	2	0	4	4			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr4:52861922G>A	ENST00000343457.3	-	4	1272	c.1266C>T	c.(1264-1266)aaC>aaT	p.N422N		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	422						integral to membrane		p.N422N(1)		central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						AGAAGCCCTCGTTTGAATACG	0.537													11	168					0	0	1	0	0	A	52861922	G	A	52861922	2	1	33	1	0	0	0	0	0	0	0	1	9063	1136	40	1		1	LRRC66	4	52861922	Silent	SNP	G	TCGA-EJ-5494-01A-01D-1576-08	11240623	52861922	138292354	11	1809											
ACOT12	134526	broad.mit.edu	37	chr5	80643722	80643722	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggtgccccttgtggaaaccGctccttcctcttcatcaaaa	9	11	7	14	1	3	0	2	0	1	0	5	1	5	1	5	2	2	1	5	2	3	3			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr5:80643722G>A	ENST00000307624.3	-	6	552	c.524C>T	c.(523-525)gCg>gTg	p.A175V		NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	175	Acyl coenzyme A hydrolase 2.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		TGTGGAAACCGCTCCTTCCTC	0.507													10	399					0	0	1	0	0	A	80643722	G	A	80643722	3	1	33	1	0	0	0	0	1	0	0	0	150	1087	38	1	1183	1	ACOT12	5	80643722	Missense_Mutation	SNP	G	TCGA-EJ-5494-01A-01D-1576-08		80643722	100271538	12	1810											
PCDHA4	0	broad.mit.edu	37	chr5	140188929	140188929	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacgctgctgctgtacacCgcgctgcggtgctctgcgct	3	10	12	16	5	2	0	1	0	1	0	2	0	2	0	1	1	6	7	1	1	1	1			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr5:140188929C>T	ENST00000530339.1	+	1	2157	c.2157C>T	c.(2155-2157)acC>acT	p.T719T	PCDHA4_ENST00000356878.4_Silent_p.T719T|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.T719T|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018907.2	NP_061730.1												p.T719T(2)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTGTACACCGCGCTGCGGT	0.657													6	93					0	0	1	0	0	T	140188929	C	T	140188929	2	4	33	1	0	0	0	0	0	0	0	1	11573	639	23	1		1	PCDHA4	5	140188929	Silent	SNP	C	TCGA-EJ-5494-01A-01D-1576-08	59545207	140188929	40726331	13	1811											
PCDHB7	0	broad.mit.edu	37	chr5	140554610	140554610	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctgagggcccctttccaCgacatctggtggacttgagc	6	10	12	13	1	1	2	0	2	1	0	2	4	2	3	4	3	2	0	4	3	0	2			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr5:140554610C>T	ENST00000231137.3	+	1	2368	c.2194C>T	c.(2194-2196)Cga>Tga	p.R732*		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		732					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R732*(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCCTTTCCACGACATCTGGT	0.637													21	525					0	0	1	0	0	T	140554610	C	T	140554610	4	4	33	1	0	0	0	0	0	1	0	0	11594	528	19	1	2196	1	PCDHB7	5	140554610	Nonsense_Mutation	SNP	C	TCGA-EJ-5494-01A-01D-1576-08	365681	140554610	40360650	14	1812											
TFAP2D	83741	broad.mit.edu	37	chr6	50740477	50740477	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tactcacaagaacggcggagCggcggattctggccaaggac	11	5	14	11	4	2	1	1	0	1	1	2	4	2	4	1	6	3	0	1	6	4	2			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr6:50740477C>T	ENST00000008391.3	+	8	1487	c.1259C>T	c.(1258-1260)gCg>gTg	p.A420V		NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	420							DNA binding|sequence-specific DNA binding transcription factor activity	p.A420V(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					AACGGCGGAGCGGCGGATTCT	0.507													12	73					0	0	1	0	0	T	50740477	C	T	50740477	3	4	33	1	0	0	0	0	1	0	0	0	15850	768	27	1	1289	1	TFAP2D	6	50740477	Missense_Mutation	SNP	C	TCGA-EJ-5494-01A-01D-1576-08		50740477	120374590	15	1813											
TBX18	9096	broad.mit.edu	37	chr6	85446536	85446536	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcaacatctgccgatccGtcatggtcccactcggtgag	7	8	13	13	3	2	1	1	1	1	0	5	2	4	1	3	4	2	1	3	4	1	0			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr6:85446536G>A	ENST00000369663.5	-	8	2028	c.1691C>T	c.(1690-1692)aCg>aTg	p.T564M	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	564					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.T564M(2)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		CTGCCGATCCGTCATGGTCCC	0.527													10	102					0	0	1	0	0	A	85446536	G	A	85446536	3	1	33	1	0	0	0	0	1	0	0	0	15713	1145	40	1	136	1	TBX18	6	85446536	Missense_Mutation	SNP	G	TCGA-EJ-5494-01A-01D-1576-08	34706059	85446536	85668531	16	1814											
CDK19	23097	broad.mit.edu	37	chr6	110948346	110948346	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatacaacctattgcccataTatctgggaaggaagaaacat	16	10	7	8	0	1	1	0	0	1	1	1	3	1	3	2	2	4	0	2	2	9	6			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr6:110948346T>C	ENST00000368911.3	-	7	828	c.649A>G	c.(649-651)Ata>Gta	p.I217V	CDK19_ENST00000413605.2_Missense_Mutation_p.I93V|CDK19_ENST00000323817.3_Missense_Mutation_p.I157V	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN	cyclin-dependent kinase 19	217	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding	p.I217V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						ATTGCCCATATATCTGGGAAG	0.318													45	80					0	0	1	0	0	C	110948346	T	C	110948346	3	2	33	1	0	0	0	0	1	0	0	0	3157	1406	49	3	887	3	CDK19	6	110948346	Missense_Mutation	SNP	T	TCGA-EJ-5494-01A-01D-1576-08	25501810	110948346	60166721	17	1815											
NEUROD6	63974	broad.mit.edu	37	chr7	31378446	31378446	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgattctcagaatttcagaaAgtgcccagatgtagtttttg	11	14	9	7	1	2	3	2	0	1	3	3	4	2	3	1	0	1	2	1	0	3	5			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr7:31378446A>G	ENST00000297142.3	-	2	759	c.437T>C	c.(436-438)cTt>cCt	p.L146P		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	146	Helix-loop-helix motif.				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.L146P(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						AATTTCAGAAAGTGCCCAGAT	0.443													42	94					0	0	1	0	0	G	31378446	A	G	31378446	3	3	33	1	0	0	0	0	1	0	0	0	10398	72	3	3	580	3	NEUROD6	7	31378446	Missense_Mutation	SNP	A	TCGA-EJ-5494-01A-01D-1576-08		31378446	127760217	18	1816											
CA1	759	broad.mit.edu	37	chr8	86249177	86249177	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttactaaattacattacctcGgcagaatatttgactccatc	13	14	4	10	1	0	2	0	1	0	1	3	2	1	2	2	1	3	1	2	1	7	6			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr8:86249177G>A	ENST00000523953.1	-	5	1397	c.351C>T	c.(349-351)gcC>gcT	p.A117A	CA1_ENST00000523022.1_Silent_p.A117A|CA1_ENST00000522389.1_Intron|CA1_ENST00000542576.1_Silent_p.A117A|CA1_ENST00000432364.2_Silent_p.A117A|CA1_ENST00000256119.5_Silent_p.A117A|CA1_ENST00000518341.1_5'UTR|CA1_ENST00000431316.1_Silent_p.A117A			P00915	CAH1_HUMAN	carbonic anhydrase I	117					one-carbon metabolic process	Golgi apparatus	carbonate dehydratase activity|zinc ion binding	p.A117A(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13		all_lung(136;4.89e-06)			Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909)	ACATTACCTCGGCAGAATATT	0.413													16	196					0	0	1	0	0	A	86249177	G	A	86249177	2	1	33	1	0	0	0	0	0	0	0	1	2528	1103	39	1		1	CA1	8	86249177	Silent	SNP	G	TCGA-EJ-5494-01A-01D-1576-08		86249177	60114845	19	1817											
ENPP2	0	broad.mit.edu	37	chr8	120569893	120569893	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accctagctgtgtgcatcttCatgagttcttctacccattt	7	16	6	12	0	4	1	1	1	3	0	4	1	4	1	2	0	3	3	2	0	2	6			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr8:120569893C>T	ENST00000427067.2	-	26	2703	c.2523G>A	c.(2521-2523)atG>atA	p.M841I	ENPP2_ENST00000075322.6_Missense_Mutation_p.M820I|ENPP2_ENST00000259486.6_Missense_Mutation_p.M872I|ENPP2_ENST00000522826.1_Missense_Mutation_p.M845I|ENPP2_ENST00000522167.1_Missense_Mutation_p.M455I			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	820	Required for secretion (By similarity).				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	p.M872I(2)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TGTGCATCTTCATGAGTTCTT	0.463													7	228					0	0	1	0	0	T	120569893	C	T	120569893	3	4	33	1	0	0	0	0	1	0	0	0	5158	826	29	2	135	2	ENPP2	8	120569893	Missense_Mutation	SNP	C	TCGA-EJ-5494-01A-01D-1576-08	34320716	120569893	25794129	20	1818											
CRB2	286204	broad.mit.edu	37	chr9	126132707	126132707	+	Missense_Mutation	SNP	C	C	A																															cagtgccagctggtggccccCtgggtctggcactgaggttt																										TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr9:126132707C>A	ENST00000373631.3	+	7	1376	c.1375C>A	c.(1375-1377)Ctg>Atg	p.L459M	CRB2_ENST00000359999.3_Missense_Mutation_p.L459M|CRB2_ENST00000373629.2_Missense_Mutation_p.L127M	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	459	Laminin G-like 1.					extracellular region|integral to membrane|plasma membrane	calcium ion binding	p.L459M(1)		NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						TGGTGGCCCCCTGGGTCTGGC	0.617													5	56					8.12818e-05	8.77844e-05	1	1	0	A	126132707	C	A	126132707	3	1	33	1	0	0	0	0	1	0	0	0	3872	680	24	4	1401	4	CRB2	9	126132707	Missense_Mutation	SNP	C	TCGA-EJ-5494-01A-01D-1576-08		126132707	15080724	21	1819	11	2									
CRB2	286204	broad.mit.edu	37	chr9	126132708	126132708	+	Missense_Mutation	SNP	T	T	A																															agtgccagctggtggcccccTgggtctggcactgaggtttc																										TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr9:126132708T>A	ENST00000373631.3	+	7	1377	c.1376T>A	c.(1375-1377)cTg>cAg	p.L459Q	CRB2_ENST00000359999.3_Missense_Mutation_p.L459Q|CRB2_ENST00000373629.2_Missense_Mutation_p.L127Q	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	459	Laminin G-like 1.					extracellular region|integral to membrane|plasma membrane	calcium ion binding	p.L459Q(1)		NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						GGTGGCCCCCTGGGTCTGGCA	0.612													5	55					0	0	1	0	0	A	126132708	T	A	126132708	3	1	33	1	0	0	0	0	1	0	0	0	3872	1580	55	5	1402	5	CRB2	9	126132708	Missense_Mutation	SNP	T	TCGA-EJ-5494-01A-01D-1576-08	1	126132708	15080723	22	1820	11	2									
SH3GLB2	56904	broad.mit.edu	37	chr9	131772101	131772101	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcggtagcactgtgcgtagTaggttgtctgagacttgacg	7	11	16	7	3	1	2	0	2	1	1	1	3	1	2	0	3	2	5	0	3	3	5			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr9:131772101T>C	ENST00000372564.3	-	9	933	c.788A>G	c.(787-789)tAc>tGc	p.Y263C	SH3GLB2_ENST00000417224.1_Missense_Mutation_p.Y263C|SH3GLB2_ENST00000416629.1_Missense_Mutation_p.Y242C|SH3GLB2_ENST00000372554.4_Missense_Mutation_p.Y267C|SH3GLB2_ENST00000372559.1_Missense_Mutation_p.Y263C	NM_020145.2	NP_064530.1	Q9NR46	SHLB2_HUMAN	SH3-domain GRB2-like endophilin B2	263	BAR.				filopodium assembly|signal transduction	cytoplasm|nucleus	cytoskeletal adaptor activity|SH3 domain binding	p.Y263C(1)		NS(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)	12						CTGTGCGTAGTAGGTTGTCTG	0.622													9	13					0	0	1	0	0	C	131772101	T	C	131772101	3	2	33	1	0	0	0	0	1	0	0	0	14309	1638	57	3	411	3	SH3GLB2	9	131772101	Missense_Mutation	SNP	T	TCGA-EJ-5494-01A-01D-1576-08	5639393	131772101	9441330	23	1821											
CUL2	8453	broad.mit.edu	37	chr10	35351967	35351967	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctccaaggggttcaggatagGccacacataaagcatagata	15	7	10	9	0	1	1	1	0	0	1	2	2	2	2	2	4	1	2	2	4	6	5			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr10:35351967G>A	ENST00000374748.1	-	4	456	c.143C>T	c.(142-144)gCc>gTc	p.A48V	CUL2_ENST00000374749.3_Missense_Mutation_p.A48V|CUL2_ENST00000602371.1_Missense_Mutation_p.P6S|CUL2_ENST00000374746.1_Missense_Mutation_p.A48V|CUL2_ENST00000374751.3_Missense_Mutation_p.A48V|CUL2_ENST00000374742.1_Missense_Mutation_p.A48V|CUL2_ENST00000537177.1_Missense_Mutation_p.A67V			Q13617	CUL2_HUMAN	cullin 2	48					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding	p.A48V(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						TTCAGGATAGGCCACACATAA	0.313													11	118					0	0	1	0	0	A	35351967	G	A	35351967	3	1	33	1	0	0	0	0	1	0	0	0	4078	1203	42	2	2170	2	CUL2	10	35351967	Missense_Mutation	SNP	G	TCGA-EJ-5494-01A-01D-1576-08		35351967	100182780	24	1822											
MUC5B	727897	broad.mit.edu	37	chr11	1268402	1268402	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacacctgcagccaccagcaGcacagtgactccctcctctg	9	6	7	19	0	1	1	0	1	1	0	3	1	3	1	5	0	4	3	5	0	0	0			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr11:1268402G>A	ENST00000447027.1	+	31	10359	c.10301G>A	c.(10300-10302)aGc>aAc	p.S3434N	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.S3431N			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3431	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.S3410N(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		gccaccagcagcacAGTGACT	0.682													2	3					0	0	1	0	0	A	1268402	G	A	1268402	3	1	33	1	0	0	0	0	1	0	0	0	10027	971	34	2	10423	2	MUC5B	11	1268402	Missense_Mutation	SNP	G	TCGA-EJ-5494-01A-01D-1576-08		1268402	133738114	25	1823											
OR5D16	390144	broad.mit.edu	37	chr11	55606581	55606581	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actgaattaattctatttgcGgtgatggcctatgaccactt	10	15	8	8	1	1	3	0	3	1	0	1	3	1	3	2	2	1	0	2	2	4	6	rs139231893	byFrequency	TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr11:55606581G>A	ENST00000378396.1	+	1	354	c.354G>A	c.(352-354)gcG>gcA	p.A118A		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A118A(2)		cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TTCTATTTGCGGTGATGGCCT	0.423													7	305					0	0	1	0	0	A	55606581	G	A	55606581	2	1	33	1	0	0	0	0	0	0	0	1	11203	1103	39	1		1	OR5D16	11	55606581	Silent	SNP	G	TCGA-EJ-5494-01A-01D-1576-08	54338179	55606581	79399935	26	1824											
MEN1	0	broad.mit.edu	37	chr11	64572284	64572284	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactatgcgcaccttctgcCgcacctgggccagtggggag	6	8	13	14	2	2	0	1	0	1	0	2	1	2	1	4	3	2	2	4	3	1	2			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr11:64572284C>T	ENST00000337652.1	-	10	1873	c.1370G>A	c.(1369-1371)cGg>cAg	p.R457Q	MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000377316.2_Missense_Mutation_p.R397Q|MEN1_ENST00000394374.2_Missense_Mutation_p.R457Q|MEN1_ENST00000312049.6_Missense_Mutation_p.R452Q|MEN1_ENST00000377326.3_Missense_Mutation_p.R452Q|MEN1_ENST00000377313.1_Missense_Mutation_p.R457Q|MEN1_ENST00000443283.1_Missense_Mutation_p.R457Q|MEN1_ENST00000315422.4_Missense_Mutation_p.R452Q|MEN1_ENST00000377321.1_Missense_Mutation_p.R417Q|MEN1_ENST00000394376.1_Missense_Mutation_p.R457Q	NM_130803.2	NP_570715.1	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	457					DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	p.R452Q(1)		NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						CACCTTCTGCCGCACCTGGGC	0.726			"D, Mis, N, F, S"		"parathyroid tumors, Pancreatic neuroendocrine tumors"	"parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated				21	119					0	0	1	0	0	T	64572284	C	T	64572284	3	4	33	1	0	0	0	0	1	0	0	0	9522	652	23	1	481	1	MEN1	11	64572284	Missense_Mutation	SNP	C	TCGA-EJ-5494-01A-01D-1576-08	8965703	64572284	70434232	27	1825											
KRT1	3848	broad.mit.edu	37	chr12	53071120	53071120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttgctctggtacaaggactCggcctcagctttgctcttct	5	14	9	13	1	4	0	1	0	3	0	5	1	4	1	1	3	4	4	1	3	2	4			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr12:53071120C>T	ENST00000252244.3	-	5	1166	c.1108G>A	c.(1108-1110)Gag>Aag	p.E370K		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	370	Coil 2.|Rod.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding	p.E370K(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						TACAAGGACTCGGCCTCAGCT	0.522													9	125					0	0	1	0	0	T	53071120	C	T	53071120	3	4	33	1	0	0	0	0	1	0	0	0	8490	893	31	1	846	1	KRT1	12	53071120	Missense_Mutation	SNP	C	TCGA-EJ-5494-01A-01D-1576-08		53071120	80780775	28	1826											
CUX2	23316	broad.mit.edu	37	chr12	111652018	111652018	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccagaaggagcttaattcCgtcgcttctgagctgtctgc	7	13	10	11	2	2	2	0	1	2	1	5	3	4	3	2	1	3	3	2	1	2	4			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr12:111652018C>T	ENST00000261726.6	+	2	232	c.78C>T	c.(76-78)tcC>tcT	p.S26S		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	26						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S26S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						AGCTTAATTCCGTCGCTTCTG	0.353													7	130					0	0	1	0	0	T	111652018	C	T	111652018	2	4	33	1	0	0	0	0	0	0	0	1	4088	639	23	1		1	CUX2	12	111652018	Silent	SNP	C	TCGA-EJ-5494-01A-01D-1576-08	58580898	111652018	22199877	29	1827											
ACADS	35	broad.mit.edu	37	chr12	121176678	121176678	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccggctgctgacctggcGcgctgccatgctgaaggata	6	8	14	13	3	0	2	0	2	0	0	0	3	0	3	3	3	4	4	3	3	2	1			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr12:121176678G>A	ENST00000242592.4	+	8	1140	c.989G>A	c.(988-990)cGc>cAc	p.R330H	ACADS_ENST00000411593.2_Missense_Mutation_p.R326H	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain	330						mitochondrial matrix	butyryl-CoA dehydrogenase activity	p.R330H(2)		central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			NADH(DB00157)	CTGACCTGGCGCGCTGCCATG	0.642													5	113					0	0	1	0	0	A	121176678	G	A	121176678	3	1	33	1	0	0	0	0	1	0	0	0	114	1087	38	1	1019	1	ACADS	12	121176678	Missense_Mutation	SNP	G	TCGA-EJ-5494-01A-01D-1576-08	9524660	121176678	12675217	30	1828											
RIMBP2	23504	broad.mit.edu	37	chr12	130935764	130935764	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gactcagatctgcatcttgcGctaccggatctcgacaggaa	10	9	10	12	3	4	1	1	0	3	1	5	5	4	3	1	2	3	2	1	2	2	2			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr12:130935764G>A	ENST00000261655.4	-	5	592	c.429C>T	c.(427-429)agC>agT	p.S143S	RIMBP2_ENST00000536002.1_Silent_p.S51S|RIMBP2_ENST00000535703.1_Silent_p.S51S	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	143						cell junction|synapse		p.S143S(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TGCATCTTGCGCTACCGGATC	0.637													5	80					0	0	1	0	0	A	130935764	G	A	130935764	2	1	33	1	0	0	0	0	0	0	0	1	13413	1078	38	1		1	RIMBP2	12	130935764	Silent	SNP	G	TCGA-EJ-5494-01A-01D-1576-08	9759086	130935764	2916131	31	1829											
FOXA1	3169	broad.mit.edu	37	chr14	38060572	38060572	+	Nonstop_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accccccagtcccgggagctAggaagtgtttaggacgggtc	8	7	14	12	2	0	0	0	0	0	0	2	3	1	3	4	4	1	2	4	4	3	3			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr14:38060572A>C	ENST00000250448.2	-	2	1478	c.1417T>G	c.(1417-1419)Tag>Gag	p.*473E	FOXA1_ENST00000540786.1_Nonstop_Mutation_p.*440E|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	0					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	p.*473E(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		CCCGGGAGCTAGGAAGTGTTT	0.562													4	88					0	0	1	0	0	C	38060572	A	C	38060572	4	2	33	1	0	0	0	0	0	0	0	0	6022	433	15	5	5	5	FOXA1	14	38060572	Nonstop_Mutation	SNP	A	TCGA-EJ-5494-01A-01D-1576-08		38060572	69288968	32	1830											
FOXA1	3169	broad.mit.edu	37	chr14	38060721	38060721	+	Frame_Shift_Del	DEL	G	G	-																															cgtaaggcgagtattgcagtGcctgttcgtatgccttgaag																										TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr14:38060721delG	ENST00000250448.2	-	2	1329	c.1268delC	c.(1267-1269)gafs	p.A423fs	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Frame_Shift_Del_p.A390fs	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	423					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		GTATTGCAGTGCCTGTTCGTA	0.612													12	66	---	---	---	---						-	38060721	G	-	38060721	7	5	33	1	0	1	0	1	0	0	0	0	6022	1319	46	0	154	0	FOXA1	14	38060721	Frame_Shift_Del	DEL	G	TCGA-EJ-5494-01A-01D-1576-08	149	38060721	69288819	33	1831											
SALL1	6299	broad.mit.edu	37	chr16	51173899	51173899	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggttttaagattccctttcGtggtgaaagcccggccacag	8	11	12	10	2	0	2	0	1	0	1	2	2	1	2	3	3	1	1	3	3	2	4			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr16:51173899G>A	ENST00000440970.1	-	2	2374	c.1943C>T	c.(1942-1944)aCg>aTg	p.T648M	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.T745M	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	745					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T745M(2)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			ATTCCCTTTCGTGGTGAAAGC	0.547													6	97					0	0	1	0	0	A	51173899	G	A	51173899	3	1	33	1	0	0	0	0	1	0	0	0	13862	1145	40	1	1748	1	SALL1	16	51173899	Missense_Mutation	SNP	G	TCGA-EJ-5494-01A-01D-1576-08		51173899	39180854	34	1832											
DPH1	1801	broad.mit.edu	37	chr17	1939852	1939852	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acacctcggcccaagacttcCgggtgctgtacgtctttgtg	6	11	11	13	3	1	1	0	0	1	1	3	1	2	1	3	2	2	2	3	2	2	3	rs36104739		TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr17:1939852C>T	ENST00000263083.6	+	5	490	c.445C>T	c.(445-447)Cgg>Tgg	p.R149W	DPH1_ENST00000570477.1_Missense_Mutation_p.R69W|DPH1_ENST00000576891.2_3'UTR	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN	diphthamide biosynthesis 1	149					peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus		p.R149W(2)		endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						CCAAGACTTCCGGGTGCTGTA	0.627													11	148					0	0	1	0	0	T	1939852	C	T	1939852	3	4	33	1	0	0	0	0	1	0	0	0	4746	643	23	1	463	1	DPH1	17	1939852	Missense_Mutation	SNP	C	TCGA-EJ-5494-01A-01D-1576-08		1939852	79255358	35	1833											
RPL19	6143	broad.mit.edu	37	chr17	37360425	37360425	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgaaggcagacaaggcccGcaagaagctcctggcgtaag	12	4	14	11	2	0	3	0	1	0	2	1	3	1	3	2	3	1	5	2	3	5	1			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr17:37360425G>A	ENST00000579260.1	+	5	849	c.446G>A	c.(445-447)cGc>cAc	p.R149H	RPL19_ENST00000225430.4_Missense_Mutation_p.R151H|RPL19_ENST00000582193.1_Missense_Mutation_p.R149H|RPL19_ENST00000579374.1_Missense_Mutation_p.R148H			P84098	RL19_HUMAN	ribosomal protein L19	151					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome	p.R151H(1)		kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7						GACAAGGCCCGCAAGAAGCTC	0.453													3	51					0	0	1	0	0	A	37360425	G	A	37360425	3	1	33	1	0	0	0	0	1	0	0	0	13618	1087	38	1	470	1	RPL19	17	37360425	Missense_Mutation	SNP	G	TCGA-EJ-5494-01A-01D-1576-08	35420573	37360425	43834785	36	1834											
LAMA3	3909	broad.mit.edu	37	chr18	21426327	21426327	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggccttttaccacaagggCgccctgccttgtgagtgcca	6	10	12	13	1	0	1	0	1	0	0	0	1	0	1	5	2	3	0	5	2	2	3			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr18:21426327C>T	ENST00000313654.9	+	31	4027	c.3786C>T	c.(3784-3786)ggC>ggT	p.G1262G	LAMA3_ENST00000399516.3_Silent_p.G1262G	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1262	Domain IV 1 (domain IV B).				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.G1262G(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACCACAAGGGCGCCCTGCCTT	0.632													7	189					0	0	1	0	0	T	21426327	C	T	21426327	2	4	33	1	0	0	0	0	0	0	0	1	8646	755	27	1		1	LAMA3	18	21426327	Silent	SNP	C	TCGA-EJ-5494-01A-01D-1576-08		21426327	56650921	37	1835											
CACNA1A	773	broad.mit.edu	37	chr19	13423526	13423526	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagtggaagtaaggccgcGtcccaagcccgtacattttt	11	9	11	10	3	0	1	0	0	0	1	1	2	1	2	3	2	2	2	3	2	5	4			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr19:13423526G>A	ENST00000360228.5	-	12	1624	c.1625C>T	c.(1624-1626)aCg>aTg	p.T542M	CACNA1A_ENST00000573710.2_Missense_Mutation_p.T543M	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	543					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	p.T543M(3)|p.T542M(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GTAAGGCCGCGTCCCAAGCCC	0.438													8	93					0	0	1	0	0	A	13423526	G	A	13423526	3	1	33	1	0	0	0	0	1	0	0	0	2556	1145	40	1	6150	1	CACNA1A	19	13423526	Missense_Mutation	SNP	G	TCGA-EJ-5494-01A-01D-1576-08		13423526	45705457	38	1836											
SIPA1L3	23094	broad.mit.edu	37	chr19	38572930	38572930	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggccctcaccgagctccTccgggcagatcctggcccac	6	5	10	20	2	1	1	1	0	0	1	4	2	4	1	7	3	1	2	7	3	0	0			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr19:38572930T>C	ENST00000222345.6	+	3	1234	c.725T>C	c.(724-726)cTc>cCc	p.L242P		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	242					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	p.L242P(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			ACCGAGCTCCTCCGGGCAGAT	0.701													3	58					0	0	1	0	0	C	38572930	T	C	38572930	3	2	33	1	0	0	0	0	1	0	0	0	14386	1551	54	3	727	3	SIPA1L3	19	38572930	Missense_Mutation	SNP	T	TCGA-EJ-5494-01A-01D-1576-08	25149404	38572930	20556053	39	1837											
FAM83C	128876	broad.mit.edu	37	chr20	33875234	33875234	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggaactggaggaggggccGggagcgaggaagcagaggtg	11	3	22	5	2	0	1	0	0	0	1	0	7	0	6	1	8	3	1	1	8	2	0			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr20:33875234G>A	ENST00000374408.3	-	4	1444	c.1348C>T	c.(1348-1350)Cgg>Tgg	p.R450W		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	450								p.R450W(1)		central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			AGGAGGGGCCGGGAGCGAGGA	0.647													5	60					0	0	1	0	0	A	33875234	G	A	33875234	3	1	33	1	0	0	0	0	1	0	0	0	5667	1115	39	1	899	1	FAM83C	20	33875234	Missense_Mutation	SNP	G	TCGA-EJ-5494-01A-01D-1576-08		33875234	29150286	40	1838											
CEP250	11190	broad.mit.edu	37	chr20	34091637	34091637	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcccagagagccctagccCagagggaccaggaactggag	12	2	15	12	0	0	2	0	0	0	2	0	6	0	5	4	4	3	0	4	4	2	1			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chr20:34091637C>G	ENST00000397527.1	+	30	6160	c.5440C>G	c.(5440-5442)Cag>Gag	p.Q1814E	CEP250_ENST00000342580.4_Missense_Mutation_p.Q1758E	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1814	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding	p.Q1814E(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			AGCCCTAGCCCAGAGGGACCA	0.607													5	100					0	0	1	0	0	G	34091637	C	G	34091637	3	3	33	1	0	0	0	0	1	0	0	0	3274	595	21	4	5546	4	CEP250	20	34091637	Missense_Mutation	SNP	C	TCGA-EJ-5494-01A-01D-1576-08	216403	34091637	28933883	41	1839											
MXRA5	25878	broad.mit.edu	37	chrX	3242966	3242966	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttggactgaagcacattgCacacaactgaccgccttcat	11	10	7	13	1	1	2	1	2	0	0	1	3	1	3	2	1	3	2	2	1	2	3			TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chrX:3242966C>A	ENST00000217939.6	-	5	914	c.760G>T	c.(760-762)Gca>Tca	p.A254S		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	254	LRRCT.					extracellular region		p.A254S(3)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AAGCACATTGCACACAACTGA	0.408													9	46					0.00621372	0.00657923	1	1	0	A	3242966	C	A	3242966	3	1	33	1	0	0	0	0	1	0	0	0	10051	710	25	4	7738	4	MXRA5	23	3242966	Missense_Mutation	SNP	C	TCGA-EJ-5494-01A-01D-1576-08		3242966	152027594	42	1840											
NXF3	56000	broad.mit.edu	37	chrX	102337712	102337712	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtatgttctcttcatggacGtccagggaggcagccatgca	8	10	13	10	1	2	0	1	0	1	0	4	2	3	2	2	4	2	4	2	4	1	3	rs146732324		TCGA-EJ-5494-01A-01D-1576-08	TCGA-EJ-5494-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c8c9d3-e3d6-45ea-b448-e1143892a190	d498facd-d3ad-4e75-87a2-bea5253d9f1f	g.chrX:102337712G>A	ENST00000425644.1	-	0	826				NXF3_ENST00000425463.2_Silent_p.D163D|NXF3_ENST00000395065.3_Silent_p.D252D			Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3							cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding	p.D252D(1)		NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						CTTCATGGACGTCCAGGGAGG	0.478													21	159					0	0	1	0	0	A	102337712	G	A	102337712	1	1	33	1	0	0	0	0	0	0	0	0	10833	1136	40	1		1	NXF3	23	102337712	Translation_Start_Site	SNP	G	TCGA-EJ-5494-01A-01D-1576-08	99094746	102337712	52932848	43	1841											
NPHP4	261734	broad.mit.edu	37	chr1	5964828	5964828	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggaaggtgaaatacacagtCtttggccatgatgttcctcg	10	12	11	8	1	1	2	0	2	1	0	3	3	2	3	2	3	1	1	2	3	3	3			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr1:5964828C>T	ENST00000378156.4	-	16	2257	c.1992G>A	c.(1990-1992)aaG>aaA	p.K664K	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	664					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity	p.K664K(2)|p.K664N(1)		NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		AATACACAGTCTTTGGCCATG	0.577													18	124					0	0	1	0	0	T	5964828	C	T	5964828	2	4	34	1	0	0	0	0	0	0	0	1	10628	912	32	2		2	NPHP4	1	5964828	Silent	SNP	C	TCGA-EJ-5495-01A-01D-1576-08		5964828	243285793	1	1842											
NBPF1	55672	broad.mit.edu	37	chr1	16918794	16918794	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggtagactgtggccagcGtgccaggtaaccgtctgcag	8	8	15	10	2	1	2	0	1	1	1	1	2	1	2	3	3	4	3	3	3	2	2			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr1:16918794G>A	ENST00000430580.2	-	0	712					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)		TGTGGCCAGCGTGCCAGGTAA	0.502													3	16					0	0	1	0	0	A	16918794	G	A	16918794	1	1	34	1	0	0	0	0	0	0	0	0	10240	1160	40	1		1	NBPF1	1	16918794	Translation_Start_Site	SNP	G	TCGA-EJ-5495-01A-01D-1576-08	10953966	16918794	232331827	2	1843											
HP1BP3	50809	broad.mit.edu	37	chr1	21103089	21103089	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caagaagacataactccttaCtcctttttggtttcctcaga	11	14	5	11	0	1	3	1	0	0	3	4	3	4	3	3	1	2	1	3	1	4	5			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr1:21103089C>G	ENST00000312239.5	-	4	490		c.e4+1		HP1BP3_ENST00000375000.1_Splice_Site|HP1BP3_ENST00000487117.1_5'UTR	NM_016287.3	NP_057371.2	Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3						nucleosome assembly	nucleosome|nucleus	DNA binding	p.?(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		TAACTCCTTACTCCTTTTTGG	0.368													46	243					0	0	1	0	0	G	21103089	C	G	21103089	5	3	34	1	0	0	0	0	0	0	1	0	7369	579	20	4	1350	4	HP1BP3	1	21103089	Splice_Site	SNP	C	TCGA-EJ-5495-01A-01D-1576-08	4184295	21103089	228147532	3	1844											
HSPG2	3339	broad.mit.edu	37	chr1	22216543	22216543	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccacagagccgctggagaTgaccctgagcagcatctcct	9	6	12	14	1	1	4	0	2	1	2	2	5	1	4	4	2	3	3	4	2	0	0			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr1:22216543T>A	ENST00000374695.3	-	6	584	c.505A>T	c.(505-507)Atc>Ttc	p.I169F		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	169	SEA.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	p.I169F(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CCGCTGGAGATGACCCTGAGC	0.617													18	147					0	0	1	0	0	A	22216543	T	A	22216543	3	1	34	1	0	0	0	0	1	0	0	0	7474	1464	51	5	13038	5	HSPG2	1	22216543	Missense_Mutation	SNP	T	TCGA-EJ-5495-01A-01D-1576-08	1113454	22216543	227034078	4	1845											
TTC4	7268	broad.mit.edu	37	chr1	55186887	55186893	+	Frame_Shift_Del	DEL	CCTGCCA	CCTGCCA	-																															agctgccagaaagctaaaacCctgccacctcaaagcaataa																										TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr1:55186887_55186893delCCTGCCA	ENST00000371281.3	+	4	530_536	c.443_449delCCTGCCA	c.(442-450)ccfs	p.PCH148fs	MROH7_ENST00000414150.2_3'UTR|TTC4_ENST00000371284.5_3'UTR	NM_004623.4	NP_004614.3	O95801	TTC4_HUMAN	tetratricopeptide repeat domain 4	148							binding			breast(2)|endometrium(3)|kidney(1)|lung(2)|stomach(1)	9						AAGCTAAAACCCTGCCACCTCAAAGCA	0.357													8	85	---	---	---	---						-	55186893	CCTGCCA	-	55186887	7	5	34	1	0	1	0	1	0	0	0	0	16772	623	22	0	457	0	TTC4	1	55186887	Frame_Shift_Del	DEL	CCTGCCA	TCGA-EJ-5495-01A-01D-1576-08	32970344	55186887	194063734	5	1846											
SLC22A15	55356	broad.mit.edu	37	chr1	116519322	116519322	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtacttgtgcttcctgctggCcgtgctgctgcaggtaagtc	4	13	13	11	1	0	0	0	0	0	0	2	0	1	0	2	2	6	7	2	2	2	4			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr1:116519322C>A	ENST00000369503.4	+	1	204	c.74C>A	c.(73-75)gCc>gAc	p.A25D	SLC22A15_ENST00000369502.1_Missense_Mutation_p.A25D	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	25					ion transport	integral to membrane	transmembrane transporter activity	p.A25D(2)		endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TTCCTGCTGGCCGTGCTGCTG	0.716													3	36					1.23904e-05	1.3912e-05	1	1	0	A	116519322	C	A	116519322	3	1	34	1	0	0	0	0	1	0	0	0	14501	739	26	4	76	4	SLC22A15	1	116519322	Missense_Mutation	SNP	C	TCGA-EJ-5495-01A-01D-1576-08	61332435	116519322	132731299	6	1847											
MTX1	4580	broad.mit.edu	37	chr1	155178660	155178660	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccaaggggccctggagcaGtacaggccacgtgcagtttg	8	6	14	13	1	0	0	0	0	0	0	0	1	0	1	4	4	3	4	4	4	2	2			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr1:155178660G>A	ENST00000368376.3	+	1	171	c.65G>A	c.(64-66)aGt>aAt	p.S22N	MTX1_ENST00000316721.4_Missense_Mutation_p.S22N	NM_002455.3	NP_002446.2	Q13505	MTX1_HUMAN	metaxin 1	22					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane	protein binding	p.S22N(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCCTGGAGCAGTACAGGCCAC	0.697													5	26					0	0	1	0	0	A	155178660	G	A	155178660	3	1	34	1	0	0	0	0	1	0	0	0	10015	1029	36	2	67	2	MTX1	1	155178660	Missense_Mutation	SNP	G	TCGA-EJ-5495-01A-01D-1576-08	38659338	155178660	94071961	7	1848											
ASH1L	55870	broad.mit.edu	37	chr1	155448258	155448258	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccatctcaggaggaacaCtggggtaggtactcatggaa	12	7	14	8	0	2	0	2	0	1	0	3	3	2	3	1	7	2	2	1	7	4	2			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr1:155448258C>A	ENST00000368346.3	-	3	5042	c.4403G>T	c.(4402-4404)aGt>aTt	p.S1468I	ASH1L_ENST00000392403.3_Missense_Mutation_p.S1468I			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1468					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	p.S1468I(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AGGAGGAACACTGGGGTAGGT	0.488													35	175					9.04072e-19	1.15721e-18	1	1	0	A	155448258	C	A	155448258	3	1	34	1	0	0	0	0	1	0	0	0	1040	565	20	4	4595	4	ASH1L	1	155448258	Missense_Mutation	SNP	C	TCGA-EJ-5495-01A-01D-1576-08	269598	155448258	93802363	8	1849											
FASLG	356	broad.mit.edu	37	chr1	172635069	172635069	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtgttcaatcttaccagTgctgatcatttatatgtcaa	11	15	7	8	0	4	1	3	1	1	0	4	1	4	1	1	0	2	3	1	0	5	5			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr1:172635069T>G	ENST00000367721.2	+	4	943	c.759T>G	c.(757-759)agT>agG	p.S253R	FASLG_ENST00000340030.3_3'UTR	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	253					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity	p.S253R(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						ATCTTACCAGTGCTGATCATT	0.473													37	208					0	0	1	0	0	G	172635069	T	G	172635069	3	3	34	1	0	0	0	0	1	0	0	0	5715	1693	59	5	773	5	FASLG	1	172635069	Missense_Mutation	SNP	T	TCGA-EJ-5495-01A-01D-1576-08	17186811	172635069	76615552	9	1850											
RASAL2	9462	broad.mit.edu	37	chr1	178433459	178433461	+	In_Frame_Del	DEL	CAG	CAG	-																															aatgtccccagtagagaggaCagcagcctgggttctgaaca																										TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr1:178433459_178433461delCAG	ENST00000448150.3	+	15	4084_4086	c.3266_3268delCAG	c.(3265-3270)aca>a	p.TA1089del	RASAL2_ENST00000367649.3_In_Frame_Del_p.TA1100del|RASAL2_ENST00000462775.1_In_Frame_Del_p.TA959del	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	959					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						GTAGAGAGGACAGCAGCCTGGGT	0.483													14	103	---	---	---	---						-	178433461	CAG	-	178433459	7	5	34	1	0	1	0	1	0	0	0	0	13116	478	17	0	3395	0	RASAL2	1	178433459	In_Frame_Del	DEL	CAG	TCGA-EJ-5495-01A-01D-1576-08	5798390	178433459	70817162	10	1851											
PLXNA2	5362	broad.mit.edu	37	chr1	208390820	208390820	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctccttcttgtgggatggctCcaccaggatgaagaggtcat	8	11	12	10	0	2	2	1	1	1	1	4	4	4	4	3	4	0	1	3	4	1	2			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr1:208390820C>T	ENST00000367033.3	-	2	1205	c.448G>A	c.(448-450)Gag>Aag	p.E150K		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	150	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane		p.E150K(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TGGGATGGCTCCACCAGGATG	0.582													8	274					0	0	1	0	0	T	208390820	C	T	208390820	3	4	34	1	0	0	0	0	1	0	0	0	12168	864	30	2	5360	2	PLXNA2	1	208390820	Missense_Mutation	SNP	C	TCGA-EJ-5495-01A-01D-1576-08	29957361	208390820	40859801	11	1852											
SNTG2	54221	broad.mit.edu	37	chr2	1168808	1168808	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatccagcgaccacagcaGtggggcctcctctcccctct	6	7	9	19	1	2	0	0	0	2	0	5	1	4	0	7	2	2	1	7	2	0	0			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr2:1168808G>T	ENST00000308624.5	+	8	659	c.530G>T	c.(529-531)aGt>aTt	p.S177I	SNTG2_ENST00000467759.1_3'UTR|SNTG2_ENST00000407292.1_Intron	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	177					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	p.S177I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		GACCACAGCAGTGGGGCCTCC	0.488													47	335					4.29476e-34	5.66731e-34	1	1	0	T	1168808	G	T	1168808	3	4	34	1	0	0	0	0	1	0	0	0	14929	1029	36	4	560	4	SNTG2	2	1168808	Missense_Mutation	SNP	G	TCGA-EJ-5495-01A-01D-1576-08		1168808	242030565	12	1853											
PROKR1	10887	broad.mit.edu	37	chr2	68873392	68873392	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaactacctgcgcactgtcTctctctatgtctccaccaat	8	13	4	16	1	4	0	1	0	3	0	7	0	4	0	3	0	3	1	3	0	4	2	rs35335568		TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr2:68873392T>A	ENST00000303786.3	+	2	859	c.439T>A	c.(439-441)Tct>Act	p.S147T	PROKR1_ENST00000394342.2_Missense_Mutation_p.S147T			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	147						integral to membrane|plasma membrane	neuropeptide Y receptor activity	p.S147T(1)		endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCGCACTGTCTCTCTCTATGT	0.592													8	213					0	0	1	0	0	A	68873392	T	A	68873392	3	1	34	1	0	0	0	0	1	0	0	0	12604	1551	54	5	441	5	PROKR1	2	68873392	Missense_Mutation	SNP	T	TCGA-EJ-5495-01A-01D-1576-08	67704584	68873392	174325981	13	1854											
REV1	51455	broad.mit.edu	37	chr2	100055101	100055102	+	Frame_Shift_Ins	INS	-	-	T																															tgcagacctgcctgttttcaINSttttttttaacttttccctt																										TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr2:100055101_100055102insT	ENST00000258428.3	-	6	1402_1403	c.1174_1175insA	c.(1174-1176)gaafs	p.E392fs	REV1_ENST00000393445.3_Frame_Shift_Ins_p.E392fs|REV1_ENST00000465835.1_5'UTR	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	392					DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCCTGTTTTCATTTTTTTTAAC	0.351								Direct reversal of damage					9	263	---	---	---	---						T	100055102	-	T	100055101	7	5	34	1	0	1	1	0	0	0	0	0	13291	217	8	0	2652	0	REV1	2	100055101	Frame_Shift_Ins	INS	-	TCGA-EJ-5495-01A-01D-1576-08	31181709	100055101	143144272	14	1855											
MRPS9	64965	broad.mit.edu	37	chr2	105706377	105706377	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atatatgtgatattttaacaGagacgtgattggcagcagat	14	13	10	4	1	0	4	0	2	0	2	0	5	0	4	0	1	2	2	0	1	4	6			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr2:105706377G>C	ENST00000258455.3	+	7	685		c.e7-1			NM_182640.2	NP_872578.1	P82933	RT09_HUMAN	mitochondrial ribosomal protein S9						DNA damage response, detection of DNA damage|translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome	p.?(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						TATTTTAACAGAGACGTGATT	0.303													17	56					0	0	1	0	0	C	105706377	G	C	105706377	5	2	34	1	0	0	0	0	0	0	1	0	9898	956	33	4	601	4	MRPS9	2	105706377	Splice_Site	SNP	G	TCGA-EJ-5495-01A-01D-1576-08	5651276	105706377	137492996	15	1856											
TTN	7273	broad.mit.edu	37	chr2	179438165	179438165	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaatctttagtaatagttgTcacttcagggtttttgggcg	8	16	11	6	2	3	0	2	0	1	0	3	1	3	0	0	2	0	3	0	2	4	8			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr2:179438165T>C	ENST00000589042.1	-	326	72918	c.72694A>G	c.(72694-72696)Aca>Gca	p.T24232A	TTN_ENST00000591111.1_Missense_Mutation_p.T22591A|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T15292A|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T21664A|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T15359A|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T15167A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22591	Ig-like 121.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.T15167A(2)|p.T15292A(1)|p.T15359A(1)|p.T21662A(1)|p.T21664A(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTAATAGTTGTCACTTCAGGG	0.458													38	183					0	0	1	0	0	C	179438165	T	C	179438165	3	2	34	1	0	0	0	0	1	0	0	0	16797	1667	58	3	35433	3	TTN	2	179438165	Missense_Mutation	SNP	T	TCGA-EJ-5495-01A-01D-1576-08	73731788	179438165	63761208	16	1857											
NGLY1	55768	broad.mit.edu	37	chr3	25792603	25792603	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tactacctttatccaattttCtagctctcgataacttttct	9	19	2	11	1	3	0	0	0	3	0	5	1	4	0	2	0	4	1	2	0	6	10			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr3:25792603C>G	ENST00000428257.1	-	4	751	c.644G>C	c.(643-645)aGa>aCa	p.R215T	NGLY1_ENST00000280700.5_Missense_Mutation_p.R215T|NGLY1_ENST00000417874.2_Missense_Mutation_p.R173T|NGLY1_ENST00000396649.3_Missense_Mutation_p.R215T|NGLY1_ENST00000422724.2_Missense_Mutation_p.R138T	NM_001145293.1	NP_001138765.1	Q96IV0	NGLY1_HUMAN	N-glycanase 1	215					glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding	p.R215T(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						ATCCAATTTTCTAGCTCTCGA	0.348													15	82					0	0	1	0	0	G	25792603	C	G	25792603	3	3	34	1	0	0	0	0	1	0	0	0	10445	913	32	4	1452	4	NGLY1	3	25792603	Missense_Mutation	SNP	C	TCGA-EJ-5495-01A-01D-1576-08		25792603	172229827	17	1858											
XCR1	2829	broad.mit.edu	37	chr3	46063159	46063159	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggaagtctcccagcacccagCcccagtggtatggggagatc	9	6	13	13	0	1	1	0	0	1	1	3	3	1	2	4	4	2	2	4	4	2	1			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr3:46063159C>G	ENST00000309285.3	-	2	637	c.281G>C	c.(280-282)gGc>gCc	p.G94A	XCR1_ENST00000542109.1_Missense_Mutation_p.G94A	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	94					chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response	integral to plasma membrane	chemokine receptor activity	p.G94A(1)		NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		CAGCACCCAGCCCCAGTGGTA	0.547													10	60					0	0	1	0	0	G	46063159	C	G	46063159	3	3	34	1	0	0	0	0	1	0	0	0	17485	739	26	4	724	4	XCR1	3	46063159	Missense_Mutation	SNP	C	TCGA-EJ-5495-01A-01D-1576-08	20270556	46063159	151959271	18	1859											
ITIH3	3699	broad.mit.edu	37	chr3	52836783	52836783	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggaattacattgagcggcTctgggcctacctcaccattg	8	10	11	12	2	2	1	1	1	1	0	2	2	2	2	3	3	3	1	3	3	3	4			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr3:52836783T>A	ENST00000449956.2	+	13	1676	c.1670T>A	c.(1669-1671)cTc>cAc	p.L557H	ITIH3_ENST00000416872.2_Intron	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	557					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.L557H(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		ATTGAGCGGCTCTGGGCCTAC	0.607													10	48					0	0	1	0	0	A	52836783	T	A	52836783	3	1	34	1	0	0	0	0	1	0	0	0	7949	1551	54	5	1720	5	ITIH3	3	52836783	Missense_Mutation	SNP	T	TCGA-EJ-5495-01A-01D-1576-08	6773624	52836783	145185647	19	1860											
SDAD1	55153	broad.mit.edu	37	chr4	76888458	76888458	+	Frame_Shift_Del	DEL	C	C	-																															tggggctgcagaaacctttgCaaaaagggatagaaattgaa																										TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr4:76888458delC	ENST00000356260.5	-	12	1135	c.1017delG	c.(1015-1017)ttfs	p.L339fs	SDAD1_ENST00000513089.1_Intron|SDAD1_ENST00000395711.4_Frame_Shift_Del_p.L302fs	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	339					protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GAAACCTTTGCAAAAAGGGAT	0.418													15	60	---	---	---	---						-	76888458	C	-	76888458	7	5	34	1	0	1	0	1	0	0	0	0	14004	709	25	0	1090	0	SDAD1	4	76888458	Frame_Shift_Del	DEL	C	TCGA-EJ-5495-01A-01D-1576-08		76888458	114265818	20	1861											
ADAM29	11086	broad.mit.edu	37	chr4	175897499	175897499	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtattgcaagtggaagtcgGagaacattacgccccggatg	11	9	13	8	3	0	1	0	0	0	1	1	4	0	3	2	3	3	2	2	3	5	3			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr4:175897499G>T	ENST00000359240.3	+	5	1493	c.823G>T	c.(823-825)Gag>Tag	p.E275*	ADAM29_ENST00000514159.1_Nonsense_Mutation_p.E275*|ADAM29_ENST00000445694.1_Nonsense_Mutation_p.E275*|ADAM29_ENST00000404450.4_Nonsense_Mutation_p.E275*	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	275	Peptidase M12B.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	p.E275*(2)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GTGGAAGTCGGAGAACATTAC	0.413													10	373					7.48243e-07	8.62839e-07	1	1	0	T	175897499	G	T	175897499	4	4	34	1	0	0	0	0	0	1	0	0	246	1175	41	4	825	4	ADAM29	4	175897499	Nonsense_Mutation	SNP	G	TCGA-EJ-5495-01A-01D-1576-08	99009041	175897499	15256777	21	1862											
CDH6	1004	broad.mit.edu	37	chr5	31267702	31267702	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaaagggccctggagctctCtggaaacagcaaaaatgagc	15	5	12	9	0	1	1	0	1	1	0	2	4	1	3	1	3	4	2	1	3	5	0			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr5:31267702C>G	ENST00000265071.2	+	2	387	c.122C>G	c.(121-123)tCt>tGt	p.S41C	RP11-152K4.2_ENST00000523584.1_RNA|CDH6_ENST00000514738.1_5'UTR	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	41					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.S41C(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CTGGAGCTCTCTGGAAACAGC	0.483													23	164					0	0	1	0	0	G	31267702	C	G	31267702	3	3	34	1	0	0	0	0	1	0	0	0	3136	913	32	4	124	4	CDH6	5	31267702	Missense_Mutation	SNP	C	TCGA-EJ-5495-01A-01D-1576-08		31267702	149647558	22	1863											
CRHBP	1393	broad.mit.edu	37	chr5	76259198	76259198	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggttgcgagggaataggaGactttgtggagctgctggga	9	9	18	5	1	0	1	0	0	0	1	0	6	0	4	0	5	3	3	0	5	2	3			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr5:76259198G>T	ENST00000274368.4	+	6	1146	c.724G>T	c.(724-726)Gac>Tac	p.D242Y	CRHBP_ENST00000514258.1_3'UTR	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN	corticotropin releasing hormone binding protein	242					female pregnancy|learning or memory|signal transduction	soluble fraction		p.D242N(1)|p.D242Y(1)		kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		GGGAATAGGAGACTTTGTGGA	0.473													64	307					1.48873e-21	1.93517e-21	1	1	0	T	76259198	G	T	76259198	3	4	34	1	0	0	0	0	1	0	0	0	3893	942	33	4	746	4	CRHBP	5	76259198	Missense_Mutation	SNP	G	TCGA-EJ-5495-01A-01D-1576-08	44991496	76259198	104656062	23	1864											
CMYA5	202333	broad.mit.edu	37	chr5	79041206	79041206	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccactttctgcagagcatGgacactgccaaagacaccct	11	8	8	14	0	1	2	0	0	1	2	2	3	2	3	3	1	3	2	3	1	1	1			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr5:79041206G>A	ENST00000446378.2	+	4	10927	c.10896G>A	c.(10894-10896)atG>atA	p.M3632I		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3632	Amphipathic helix H2.|B-box coiled-coil; BBC.					perinuclear region of cytoplasm		p.M3632I(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TGCAGAGCATGGACACTGCCA	0.488													19	104					0	0	1	0	0	A	79041206	G	A	79041206	3	1	34	1	0	0	0	0	1	0	0	0	3613	1348	47	2	10910	2	CMYA5	5	79041206	Missense_Mutation	SNP	G	TCGA-EJ-5495-01A-01D-1576-08	2782008	79041206	101874054	24	1865											
LOX	4015	broad.mit.edu	37	chr5	121413182	121413182	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gttgtaagggtcgtcgcccaCcatgccgtccacgcggctgg	5	8	14	14	5	0	0	0	0	0	0	3	0	1	0	4	3	1	3	4	3	1	2			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr5:121413182C>T	ENST00000231004.4	-	1	798	c.499G>A	c.(499-501)Gtg>Atg	p.V167M		NM_001178102.1|NM_002317.5	NP_001171573.1|NP_002308.2	P28300	LYOX_HUMAN	lysyl oxidase	167					protein modification process	extracellular space	copper ion binding|protein-lysine 6-oxidase activity	p.V167M(1)		endometrium(1)|lung(6)|prostate(1)	8		all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02)		TCGTCGCCCACCATGCCGTCC	0.622													26	133					0	0	1	0	0	T	121413182	C	T	121413182	3	4	34	1	0	0	0	0	1	0	0	0	8943	507	18	2	782	2	LOX	5	121413182	Missense_Mutation	SNP	C	TCGA-EJ-5495-01A-01D-1576-08	42371976	121413182	59502078	25	1866											
TNXB	7148	broad.mit.edu	37	chr6	32023935	32023935	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgagttccgtggggctgggGgtctcttcctctgcagctga	3	12	15	11	1	2	2	0	2	2	0	5	2	4	2	2	4	2	4	2	4	0	2			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr6:32023935G>T	ENST00000375244.3	-	24	8361	c.8160C>A	c.(8158-8160)acC>acA	p.T2720T	TNXB_ENST00000375247.2_Silent_p.T2720T			P22105	TENX_HUMAN	tenascin XB	2778	Fibronectin type-III 19.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	p.T2807T(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGGGGCTGGGGGTCTCTTCCT	0.627													9	66					0.000274275	0.000300062	1	1	0	T	32023935	G	T	32023935	2	4	34	1	0	0	0	0	0	0	0	1	16406	1219	43	4		4	TNXB	6	32023935	Silent	SNP	G	TCGA-EJ-5495-01A-01D-1576-08		32023935	139091132	26	1867											
MDGA1	266727	broad.mit.edu	37	chr6	37622688	37622688	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggggccgcaggttcttcagCttcaggaccttggtctcccc	4	11	12	14	1	4	0	2	0	2	0	5	1	4	1	4	5	1	3	4	5	0	4			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr6:37622688C>G	ENST00000434837.2	-	5	1778	c.600G>C	c.(598-600)aaG>aaC	p.K200N	MDGA1_ENST00000297153.7_Missense_Mutation_p.K200N|MDGA1_ENST00000505425.1_Missense_Mutation_p.K200N	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	200	Ig-like 2.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane		p.K200N(2)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						GGTTCTTCAGCTTCAGGACCT	0.612													15	82					0	0	1	0	0	G	37622688	C	G	37622688	3	3	34	1	0	0	0	0	1	0	0	0	9456	796	28	4	2319	4	MDGA1	6	37622688	Missense_Mutation	SNP	C	TCGA-EJ-5495-01A-01D-1576-08	5598753	37622688	133492379	27	1868											
FAM83B	222584	broad.mit.edu	37	chr6	54735287	54735287	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acagcacatggtactgatgaTtcctgtgatgataccttatc	11	13	8	9	0	0	4	0	4	0	0	2	4	1	4	2	1	3	2	2	1	3	4			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr6:54735287T>C	ENST00000306858.7	+	2	359	c.243T>C	c.(241-243)gaT>gaC	p.D81D		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	81								p.D81D(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GTACTGATGATTCCTGTGATG	0.433													53	329					0	0	1	0	0	C	54735287	T	C	54735287	2	2	34	1	0	0	0	0	0	0	0	1	5666	1490	52	3		3	FAM83B	6	54735287	Silent	SNP	T	TCGA-EJ-5495-01A-01D-1576-08	17112599	54735287	116379780	28	1869											
FUT9	10690	broad.mit.edu	37	chr6	96651187	96651187	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgtgctgaaaatgaaaaaCttcttttccaccaaaactga	15	12	5	9	0	2	3	0	3	2	0	3	3	3	3	2	0	3	1	2	0	6	3			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr6:96651187C>T	ENST00000302103.5	+	3	482	c.156C>T	c.(154-156)aaC>aaT	p.N52N		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	52					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	p.N52N(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		AAATGAAAAACTTCTTTTCCA	0.423													33	163					0	0	1	0	0	T	96651187	C	T	96651187	2	4	34	1	0	0	0	0	0	0	0	1	6146	564	20	2		2	FUT9	6	96651187	Silent	SNP	C	TCGA-EJ-5495-01A-01D-1576-08	41915900	96651187	74463880	29	1870											
TIAM2	26230	broad.mit.edu	37	chr6	155451342	155451342	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgggcacgcatgccagcCtgagcaaccgtgtctctttt	8	10	10	13	2	1	1	0	1	1	0	2	1	1	1	3	1	4	3	3	1	1	2			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr6:155451342C>T	ENST00000461783.3	+	6	2258	c.985C>T	c.(985-987)Ctg>Ttg	p.L329L	TIAM2_ENST00000360366.4_Silent_p.L329L|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000529824.2_Silent_p.L329L|TIAM2_ENST00000318981.5_Silent_p.L329L|TIAM2_ENST00000456144.1_Silent_p.L329L			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	329					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	p.L329L(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GCATGCCAGCCTGAGCAACCG	0.577													15	88					0	0	1	0	0	T	155451342	C	T	155451342	2	4	34	1	0	0	0	0	0	0	0	1	15951	680	24	2		2	TIAM2	6	155451342	Silent	SNP	C	TCGA-EJ-5495-01A-01D-1576-08	58800155	155451342	15663725	30	1871											
SLC22A3	6581	broad.mit.edu	37	chr6	160864677	160864677	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacagaaatttcggagtttcGctctgttcaggtctgtgtga	9	14	11	7	2	3	2	1	1	2	1	5	3	3	3	0	2	1	3	0	2	2	3			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr6:160864677G>A	ENST00000392145.1	+	9	1443	c.1416G>A	c.(1414-1416)tcG>tcA	p.S472S	SLC22A3_ENST00000275300.2_Silent_p.S471S			O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	471						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity	p.S471S(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		TCGGAGTTTCGCTCTGTTCAG	0.378													5	139					0	0	1	0	0	A	160864677	G	A	160864677	2	1	34	1	0	0	0	0	0	0	0	1	14510	1074	38	1		1	SLC22A3	6	160864677	Silent	SNP	G	TCGA-EJ-5495-01A-01D-1576-08	5413335	160864677	10250390	31	1872											
UNC93A	54346	broad.mit.edu	37	chr6	167709633	167709633	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acatgcagagaaggcgggaaAgcgtggcaaagacatggtga	15	4	16	6	2	0	3	0	1	0	2	0	5	0	4	0	4	2	2	0	4	3	0			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr6:167709633A>T	ENST00000230256.3	+	3	558	c.383A>T	c.(382-384)aAg>aTg	p.K128M	UNC93A_ENST00000366829.2_Missense_Mutation_p.K128M|UNC93A_ENST00000366830.2_3'UTR	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	128			K -> Q (in dbSNP:rs35313366).			integral to membrane|plasma membrane		p.K128M(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		AAGGCGGGAAAGCGTGGCAAA	0.552													30	219					0	0	1	0	0	T	167709633	A	T	167709633	3	4	34	1	0	0	0	0	1	0	0	0	17056	72	3	5	393	5	UNC93A	6	167709633	Missense_Mutation	SNP	A	TCGA-EJ-5495-01A-01D-1576-08	6844956	167709633	3405434	32	1873											
SDK1	221935	broad.mit.edu	37	chr7	3681627	3681627	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatacggaccagaggaaaacAgtttctcaaggacgtgcagc	14	6	12	9	2	1	1	1	0	1	1	2	5	1	4	1	3	4	2	1	3	4	2			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr7:3681627A>T	ENST00000404826.2	+	4	742	c.603A>T	c.(601-603)acA>acT	p.T201T	SDK1_ENST00000389531.3_Silent_p.T201T	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	201	Ig-like C2-type 2.				cell adhesion	integral to membrane		p.T201T(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AGAGGAAAACAGTTTCTCAAG	0.463													7	203					0	0	1	0	0	T	3681627	A	T	3681627	2	4	34	1	0	0	0	0	0	0	0	1	14022	175	7	5		5	SDK1	7	3681627	Silent	SNP	A	TCGA-EJ-5495-01A-01D-1576-08		3681627	155457036	33	1874											
EGFR	1956	broad.mit.edu	37	chr7	55273231	55273231	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caaggaagccaagccaaatgGcatctttaagggctccacag	14	6	10	11	0	1	0	0	0	1	0	2	1	2	1	3	3	2	2	3	3	5	2			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr7:55273231G>T	ENST00000275493.2	+	28	3731	c.3554G>T	c.(3553-3555)gGc>gTc	p.G1185V	EGFR_ENST00000454757.2_Missense_Mutation_p.G1132V|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	1185					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.G1185V(2)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AAGCCAAATGGCATCTTTAAG	0.527		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			9	74					2.74318e-10	3.25118e-10	1	1	0	T	55273231	G	T	55273231	3	4	34	1	0	0	0	0	1	0	0	0	4993	1203	42	4	3928	4	EGFR	7	55273231	Missense_Mutation	SNP	G	TCGA-EJ-5495-01A-01D-1576-08	51591604	55273231	103865432	34	1875											
CTTNBP2	83992	broad.mit.edu	37	chr7	117432054	117432054	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagcgttactgggaagtgggGgtgtgctactggttggatct	6	12	17	6	1	1	0	0	0	1	0	1	2	1	2	0	5	4	3	0	5	3	3			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr7:117432054G>A	ENST00000160373.3	-	4	1287	c.1196C>T	c.(1195-1197)cCc>cTc	p.P399L		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	399	Pro-rich.							p.P399L(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GGGAAGTGGGGGTGTGCTACT	0.527													92	272					0	0	1	0	0	A	117432054	G	A	117432054	3	1	34	1	0	0	0	0	1	0	0	0	4069	1232	43	2	3875	2	CTTNBP2	7	117432054	Missense_Mutation	SNP	G	TCGA-EJ-5495-01A-01D-1576-08	62158823	117432054	41706609	35	1876											
ARHGEF10	9639	broad.mit.edu	37	chr8	1851472	1851472	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctgaagaacacctccaaagGccaccccgacaggctgcctc	11	4	9	17	1	0	2	0	1	0	1	2	3	1	2	6	2	2	2	6	2	3	0			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr8:1851472G>A	ENST00000518288.1	+	17	1911	c.1748G>A	c.(1747-1749)gGc>gAc	p.G583D	ARHGEF10_ENST00000520359.1_Missense_Mutation_p.G521D|ARHGEF10_ENST00000398560.1_Missense_Mutation_p.G545D|ARHGEF10_ENST00000398564.1_Missense_Mutation_p.G584D|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.G559D|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.G584D			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	584	DH.				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity	p.G584D(1)|p.G336D(1)|p.G559D(1)		endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		ACCTCCAAAGGCCACCCCGAC	0.537													43	221					0	0	1	0	0	A	1851472	G	A	1851472	3	1	34	1	0	0	0	0	1	0	0	0	891	1203	42	2	1734	2	ARHGEF10	8	1851472	Missense_Mutation	SNP	G	TCGA-EJ-5495-01A-01D-1576-08		1851472	144512550	36	1877											
KCNS2	3788	broad.mit.edu	37	chr8	99440309	99440309	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggaggctgcgctcgcacacGctgctgcgcttccccgagac	6	6	13	16	5	0	1	0	0	0	1	2	3	1	2	2	2	3	6	2	2	0	1			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr8:99440309G>T	ENST00000287042.4	+	2	452	c.102G>T	c.(100-102)acG>acT	p.T34T	KCNS2_ENST00000521839.1_Silent_p.T34T	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	34						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.T34T(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			GCTCGCACACGCTGCTGCGCT	0.672													3	71					1	1	1	1	0	T	99440309	G	T	99440309	2	4	34	1	0	0	0	0	0	0	0	1	8133	1074	38	4		4	KCNS2	8	99440309	Silent	SNP	G	TCGA-EJ-5495-01A-01D-1576-08	97588837	99440309	46923713	37	1878											
ZCCHC7	84186	broad.mit.edu	37	chr9	37126633	37126633	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgatgaagacagtatttatAgatgtaaaggaaagaatgtt	17	12	10	2	0	0	5	0	2	0	3	0	6	0	6	0	1	0	3	0	1	8	6			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr9:37126633A>G	ENST00000336755.5	+	2	410	c.304A>G	c.(304-306)Aga>Gga	p.R102G	ZCCHC7_ENST00000534928.1_Intron|ZCCHC7_ENST00000461038.1_3'UTR|ZCCHC7_ENST00000322831.6_Missense_Mutation_p.R101G	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	102							nucleic acid binding|zinc ion binding	p.R102G(1)		central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		CAGTATTTATAGATGTAAAGG	0.393													13	448					0	0	1	0	0	G	37126633	A	G	37126633	3	3	34	1	0	0	0	0	1	0	0	0	17651	412	15	3	306	3	ZCCHC7	9	37126633	Missense_Mutation	SNP	A	TCGA-EJ-5495-01A-01D-1576-08		37126633	104086798	38	1879											
HSDL2	84263	broad.mit.edu	37	chr9	115200783	115200783	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgtagaaaagttgatatcaTtgcagatgcagcatattcca	14	12	9	6	0	1	3	1	1	0	2	2	3	2	3	1	0	3	5	1	0	5	6			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr9:115200783T>C	ENST00000398805.3	+	7	898	c.671T>C	c.(670-672)aTt>aCt	p.I224T	HSDL2_ENST00000539114.1_Missense_Mutation_p.I19T|HSDL2_ENST00000398803.1_Missense_Mutation_p.I151T|HSDL2_ENST00000488101.1_3'UTR|HSDL2_ENST00000262542.7_Missense_Mutation_p.I104T	NM_032303.4	NP_115679.2	Q6YN16	HSDL2_HUMAN	hydroxysteroid dehydrogenase like 2	224						peroxisome	oxidoreductase activity|sterol binding	p.I224T(1)		NS(1)|breast(2)|cervix(2)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	13						GTTGATATCATTGCAGATGCA	0.368													21	126					0	0	1	0	0	C	115200783	T	C	115200783	3	2	34	1	0	0	0	0	1	0	0	0	7435	1493	52	3	697	3	HSDL2	9	115200783	Missense_Mutation	SNP	T	TCGA-EJ-5495-01A-01D-1576-08	78074150	115200783	26012648	39	1880											
GAPVD1	26130	broad.mit.edu	37	chr9	128113082	128113086	+	Frame_Shift_Del	DEL	TGCGC	TGCGC	-																															ggctcaacttcaagaaacaaTgcgctgtgtgtgccgttttg																										TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr9:128113082_128113086delTGCGC	ENST00000470056.1	+	20	3579_3583	c.3419_3423delTGCGC	c.(3418-3423)afs	p.MR1140fs	GAPVD1_ENST00000297933.6_Frame_Shift_Del_p.MR1167fs|GAPVD1_ENST00000495955.1_Frame_Shift_Del_p.MR1185fs|GAPVD1_ENST00000394083.2_Frame_Shift_Del_p.MR1119fs|GAPVD1_ENST00000394105.2_Frame_Shift_Del_p.MR1194fs|GAPVD1_ENST00000312123.9_Frame_Shift_Del_p.MR1146fs|GAPVD1_ENST00000394104.2_Frame_Shift_Del_p.MR1185fs|GAPVD1_ENST00000265956.4_Frame_Shift_Del_p.MR1159fs			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	1185					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CAAGAAACAATGCGCTGTGTGTGCC	0.361													32	264	---	---	---	---						-	128113086	TGCGC	-	128113082	7	5	34	1	0	1	0	1	0	0	0	0	6279	1464	51	0	3663	0	GAPVD1	9	128113082	Frame_Shift_Del	DEL	TGCGC	TCGA-EJ-5495-01A-01D-1576-08	12912299	128113082	13100349	40	1881											
C9orf117	286207	broad.mit.edu	37	chr9	130473624	130473624	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caaagagaacaacggcattaCcctgcagatggccagggtct	13	6	11	11	1	1	2	0	0	1	2	1	3	1	2	2	3	4	2	2	3	4	1			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr9:130473624C>A	ENST00000373295.2	+	4	744	c.704C>A	c.(703-705)aCc>aAc	p.T235N		NM_001012502.2	NP_001012520.2	Q5JU67	CI117_HUMAN	chromosome 9 open reading frame 117	235								p.T235N(1)		breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						AACGGCATTACCCTGCAGATG	0.557													11	93					3.86212e-05	4.29871e-05	1	1	0	A	130473624	C	A	130473624	3	1	34	1	0	0	0	0	1	0	0	0	2469	507	18	4	718	4	C9orf117	9	130473624	Missense_Mutation	SNP	C	TCGA-EJ-5495-01A-01D-1576-08	2360542	130473624	10739807	41	1882											
LCN2	3934	broad.mit.edu	37	chr9	130913928	130913928	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcccaaggaaaaagaagtGtgactactggatcaggactt	14	8	10	9	0	1	2	1	1	0	1	2	5	2	5	2	3	1	0	2	3	5	2			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr9:130913928G>A	ENST00000540948.1	+	3	360	c.287G>A	c.(286-288)tGt>tAt	p.C96Y	LCN2_ENST00000373013.2_Missense_Mutation_p.C98Y|LCN2_ENST00000372998.1_Missense_Mutation_p.C98Y|LCN2_ENST00000373017.1_Missense_Mutation_p.C96Y|LCN2_ENST00000277480.2_Missense_Mutation_p.C96Y|LCN2_ENST00000470902.1_3'UTR			P80188	NGAL_HUMAN	lipocalin 2	96					apoptosis|innate immune response|regulation of apoptosis|siderophore transport		iron ion binding|transporter activity	p.C96Y(1)		central_nervous_system(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	8						AAAAAGAAGTGTGACTACTGG	0.582													21	117					0	0	1	0	0	A	130913928	G	A	130913928	3	1	34	1	0	0	0	0	1	0	0	0	8723	1377	48	2	297	2	LCN2	9	130913928	Missense_Mutation	SNP	G	TCGA-EJ-5495-01A-01D-1576-08	440304	130913928	10299503	42	1883											
RAPGEF1	2889	broad.mit.edu	37	chr9	134501446	134501446	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagaatagcagcaaagggcGcgtaggggacggatgggatc	12	4	18	7	3	0	1	0	0	0	1	1	4	0	4	0	5	2	4	0	5	4	2			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr9:134501446G>C	ENST00000372195.1	-	10	1808	c.1565C>G	c.(1564-1566)gCg>gGg	p.A522G	RAPGEF1_ENST00000372190.3_Missense_Mutation_p.A523G|RAPGEF1_ENST00000372189.3_Missense_Mutation_p.A505G			Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	505					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding	p.A200G(1)|p.A523G(1)		NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		AGCAAAGGGCGCGTAGGGGAC	0.582													17	92					0	0	1	0	0	C	134501446	G	C	134501446	3	2	34	1	0	0	0	0	1	0	0	0	13095	1087	38	4	1779	4	RAPGEF1	9	134501446	Missense_Mutation	SNP	G	TCGA-EJ-5495-01A-01D-1576-08	3587518	134501446	6711985	43	1884											
RBP3	5949	broad.mit.edu	37	chr10	48389852	48389852	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgggcacacggtccaccagCgtgtagtagtccttcaggac	8	8	13	12	2	1	0	1	0	0	0	3	1	3	1	3	3	1	3	3	3	2	3			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr10:48389852C>T	ENST00000224600.4	-	1	1139	c.1026G>A	c.(1024-1026)acG>acA	p.T342T		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	342	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	p.T342T(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GGTCCACCAGCGTGTAGTAGT	0.637													17	82					0	0	1	0	0	T	48389852	C	T	48389852	2	4	34	1	0	0	0	0	0	0	0	1	13209	755	27	1		1	RBP3	10	48389852	Silent	SNP	C	TCGA-EJ-5495-01A-01D-1576-08		48389852	87144895	44	1885											
NEUROG3	50674	broad.mit.edu	37	chr10	71332506	71332506	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcgtccagtgccgagttgagGttgtgcattcgattgcgctc	5	12	14	10	4	0	1	0	1	0	0	3	3	1	1	2	1	3	4	2	1	0	4			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr10:71332506G>T	ENST00000242462.4	-	2	323	c.294C>A	c.(292-294)aaC>aaA	p.N98K		NM_020999.3	NP_066279.2	Q9Y4Z2	NGN3_HUMAN	neurogenin 3	98	Helix-loop-helix motif.			N -> D (in Ref. 1; CAB45384).	central nervous system development|endocrine pancreas development|peripheral nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	transcription coactivator activity	p.N98K(1)		endometrium(4)|large_intestine(2)|lung(6)|prostate(1)	13						CCGAGTTGAGGTTGTGCATTC	0.642													7	44					0.00307968	0.0033126	1	1	0	T	71332506	G	T	71332506	3	4	34	1	0	0	0	0	1	0	0	0	10401	1252	44	4	354	4	NEUROG3	10	71332506	Missense_Mutation	SNP	G	TCGA-EJ-5495-01A-01D-1576-08	22942654	71332506	64202241	45	1886											
SLC43A3	29015	broad.mit.edu	37	chr11	57182087	57182087	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgccctcccccgcatctcaCctgtctttcttgcttccttc	2	15	4	20	1	3	0	1	0	3	0	7	0	5	0	5	0	2	2	5	0	0	4			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr11:57182087C>A	ENST00000395123.2	-	11	1365		c.e11+1		SLC43A3_ENST00000533524.1_Splice_Site|SLC43A3_ENST00000529554.1_Splice_Site|SLC43A3_ENST00000395124.1_Splice_Site|SLC43A3_ENST00000352187.1_Splice_Site	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3						transmembrane transport	integral to membrane		p.?(1)		central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						CCGCATCTCACCTGTCTTTCT	0.512													19	253					2.4624e-09	2.89162e-09	1	1	0	A	57182087	C	A	57182087	5	1	34	1	0	0	0	0	0	0	1	0	14689	521	18	4	430	4	SLC43A3	11	57182087	Splice_Site	SNP	C	TCGA-EJ-5495-01A-01D-1576-08		57182087	77824429	46	1887											
MPEG1	219972	broad.mit.edu	37	chr11	58979678	58979678	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggaggaaggaggccctgaGgtggtcctcctgaataagag	10	8	16	7	0	0	3	0	2	0	1	2	6	2	6	3	6	0	0	3	6	3	2			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr11:58979678G>A	ENST00000361050.3	-	1	746	c.661C>T	c.(661-663)Ctc>Ttc	p.L221F		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	221	MACPF.					integral to membrane		p.L221F(1)		NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				GAGGCCCTGAGGTGGTCCTCC	0.572													12	98					0	0	1	0	0	A	58979678	G	A	58979678	3	1	34	1	0	0	0	0	1	0	0	0	9772	1000	35	2	1493	2	MPEG1	11	58979678	Missense_Mutation	SNP	G	TCGA-EJ-5495-01A-01D-1576-08	1797591	58979678	76026838	47	1888											
ACTN3	89	broad.mit.edu	37	chr11	66314404	66314404	+	RNA	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcgaagccaggagcccgaTcgagatgatgatggttatgc	11	7	15	8	3	0	3	0	2	0	1	1	8	0	4	2	2	4	1	2	2	2	1			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr11:66314404T>A	ENST00000513398.1	+	0	93				ACTN3_ENST00000502692.1_RNA	NM_001104.2	NP_001095.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						AGGAGCCCGATCGAGATGATG	0.667													5	13					0	0	1	0	0	A	66314404	T	A	66314404	1	1	34	0	1	0	0	0	0	0	0	0	206	1450	50	5		5	ACTN3	11	66314404	RNA	SNP	T	TCGA-EJ-5495-01A-01D-1576-08	7334726	66314404	68692112	48	1889											
ART4	420	broad.mit.edu	37	chr12	14993378	14993378	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctcaatttagataaagaataCcttttagcagctgacagtta	15	13	6	7	0	1	3	1	1	0	2	1	3	1	3	1	0	3	3	1	0	8	7			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr12:14993378C>A	ENST00000228936.4	-	2	1235		c.e2+1		C12orf60_ENST00000527783.1_Intron	NM_021071.2	NP_066549.2	Q93070	NAR4_HUMAN	ADP-ribosyltransferase 4						arginine metabolic process|protein ADP-ribosylation	anchored to membrane|plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity	p.?(1)		large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3)	15						ATAAAGAATACCTTTTAGCAG	0.388													17	109					2.23348e-06	2.52996e-06	1	1	0	A	14993378	C	A	14993378	5	1	34	1	0	0	0	0	0	0	1	0	998	521	18	4	98	4	ART4	12	14993378	Splice_Site	SNP	C	TCGA-EJ-5495-01A-01D-1576-08		14993378	118858517	49	1890											
MON2	23041	broad.mit.edu	37	chr12	62946846	62946846	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaattgggtgaactatgtgtGgatccccgtcctgctgtcag	8	12	12	9	1	1	1	1	1	0	0	3	2	3	2	3	2	2	1	3	2	3	2			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr12:62946846G>A	ENST00000393630.3	+	25	3496	c.3105G>A	c.(3103-3105)gtG>gtA	p.V1035V	MON2_ENST00000280379.6_Silent_p.V1035V|MON2_ENST00000393629.2_Silent_p.V1034V|MON2_ENST00000552738.1_Silent_p.V1011V|MON2_ENST00000552115.1_Silent_p.V1034V|MON2_ENST00000546600.1_Silent_p.V1034V|MON2_ENST00000393632.2_Silent_p.V1034V	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	1035					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding	p.V1034V(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		AACTATGTGTGGATCCCCGTC	0.453													8	326					0	0	1	0	0	A	62946846	G	A	62946846	2	1	34	1	0	0	0	0	0	0	0	1	9749	1335	47	2		2	MON2	12	62946846	Silent	SNP	G	TCGA-EJ-5495-01A-01D-1576-08	47953468	62946846	70905049	50	1891											
HELB	92797	broad.mit.edu	37	chr12	66725338	66725338	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttatcttcacctgatggagtAgatacagatgatgatttacc	12	14	8	7	0	2	5	1	3	1	2	2	6	2	6	2	1	2	1	2	1	4	6			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr12:66725338A>G	ENST00000247815.4	+	12	3134	c.3075A>G	c.(3073-3075)gtA>gtG	p.V1025V		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	1025					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity	p.V1025V(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		CTGATGGAGTAGATACAGATG	0.438													26	133					0	0	1	0	0	G	66725338	A	G	66725338	2	3	34	1	0	0	0	0	0	0	0	1	7086	407	15	3		3	HELB	12	66725338	Silent	SNP	A	TCGA-EJ-5495-01A-01D-1576-08	3778492	66725338	67126557	51	1892											
GRIP1	23426	broad.mit.edu	37	chr12	66765694	66765694	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcaaactcatcgtgctccccGacatgattgttgcctgtggc	7	12	9	13	2	2	1	2	1	0	0	4	2	3	1	3	1	3	2	3	1	1	2			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr12:66765694G>A	ENST00000359742.4	-	23	3032	c.2792C>T	c.(2791-2793)tCg>tTg	p.S931L	GRIP1_ENST00000286445.7_Missense_Mutation_p.S916L|GRIP1_ENST00000398016.3_Missense_Mutation_p.S879L			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	931					androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity	p.S879L(2)		NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		CGTGCTCCCCGACATGATTGT	0.517													24	110					0	0	1	0	0	A	66765694	G	A	66765694	3	1	34	1	0	0	0	0	1	0	0	0	6828	1059	37	1	606	1	GRIP1	12	66765694	Missense_Mutation	SNP	G	TCGA-EJ-5495-01A-01D-1576-08	40356	66765694	67086201	52	1893											
TBX5	6910	broad.mit.edu	37	chr12	114804033	114804033	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagtgggtatgggttgggtgGaggcaggaggtcctgggagg	6	8	23	4	0	0	0	0	0	0	0	1	3	1	3	1	9	0	3	1	9	1	2			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr12:114804033G>T	ENST00000310346.4	-	8	1585	c.919C>A	c.(919-921)Cca>Aca	p.P307T	TBX5_ENST00000405440.2_Missense_Mutation_p.P307T|TBX5_ENST00000526441.1_Missense_Mutation_p.P307T|TBX5_ENST00000349716.5_Missense_Mutation_p.P257T	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	307					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.P307T(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GGGTTGGGTGGAGGCAGGAGG	0.532													25	109					2.21704e-12	2.70267e-12	1	1	0	T	114804033	G	T	114804033	3	4	34	1	0	0	0	0	1	0	0	0	15721	1174	41	4	712	4	TBX5	12	114804033	Missense_Mutation	SNP	G	TCGA-EJ-5495-01A-01D-1576-08	48038339	114804033	19047862	53	1894											
XPO4	64328	broad.mit.edu	37	chr13	21417991	21417991	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaacttgaaaattcactcAatagcgcagtcagaatagaa	17	10	7	7	1	3	4	3	2	0	2	3	4	3	4	0	0	2	1	0	0	8	5			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr13:21417991A>C	ENST00000400602.2	-	5	526	c.491T>G	c.(490-492)tTg>tGg	p.L164W	XPO4_ENST00000255305.6_Missense_Mutation_p.L164W	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN	exportin 4	164					protein transport	cytoplasm|nucleus	protein binding	p.L137W(1)		breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		AAATTCACTCAATAGCGCAGT	0.348													32	165					0	0	1	0	0	C	21417991	A	C	21417991	3	2	34	1	0	0	0	0	1	0	0	0	17506	131	5	5	3040	5	XPO4	13	21417991	Missense_Mutation	SNP	A	TCGA-EJ-5495-01A-01D-1576-08		21417991	93751887	54	1895											
BRCA2	675	broad.mit.edu	37	chr13	32910661	32910662	+	Frame_Shift_Ins	INS	-	-	A																															gtgaaaatgatccaaaaagcINSaaaaaagtttcagatataaa																										TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr13:32910661_32910662insA	ENST00000544455.1	+	11	2396_2397	c.2169_2170insA	c.(2167-2172)agaaaafs	p.RK723fs	BRCA2_ENST00000380152.3_Frame_Shift_Ins_p.RK723fs	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	723	Interaction with NPM1.				cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		ATCCAAAAAGCAAAAAAGTTTC	0.376			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			25	87	---	---	---	---						A	32910662	-	A	32910661	7	5	34	1	0	1	1	0	0	0	0	0	1501	709	25	0	2207	0	BRCA2	13	32910661	Frame_Shift_Ins	INS	-	TCGA-EJ-5495-01A-01D-1576-08	11492670	32910661	82259217	55	1896											
C14orf166B	145497	broad.mit.edu	37	chr14	77302633	77302633	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcctggtggagatgctacaAgagaactactacctccagga	13	7	11	10	0	0	2	0	0	0	2	1	5	1	3	3	3	6	1	3	3	5	3			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr14:77302633A>T	ENST00000393774.3	+	4	598	c.474A>T	c.(472-474)caA>caT	p.Q158H	C14orf166B_ENST00000450042.2_Missense_Mutation_p.Q141H|C14orf166B_ENST00000460005.1_3'UTR	NM_194287.2	NP_919263.2	Q0VAA2	CN16B_HUMAN	chromosome 14 open reading frame 166B	158								p.Q158H(1)		breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		AGATGCTACAAGAGAACTACT	0.552													8	20					0	0	1	0	0	T	77302633	A	T	77302633	3	4	34	1	0	0	0	0	1	0	0	0	1763	69	3	5	488	5	C14orf166B	14	77302633	Missense_Mutation	SNP	A	TCGA-EJ-5495-01A-01D-1576-08		77302633	30046907	56	1897											
DYNC1H1	1778	broad.mit.edu	37	chr14	102505453	102505453	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accactctggagaacctgaaGagagaggctgcagaggtcac	13	5	13	10	0	2	5	1	1	1	4	2	7	2	5	2	3	2	2	2	3	2	0			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr14:102505453G>T	ENST00000360184.4	+	60	11486	c.11322G>T	c.(11320-11322)aaG>aaT	p.K3774N	RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3774	AAA 5 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	p.K3774N(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AGAACCTGAAGAGAGAGGCTG	0.537													21	130					2.12542e-12	2.6159e-12	1	1	0	T	102505453	G	T	102505453	3	4	34	1	0	0	0	0	1	0	0	0	4867	933	33	4	11560	4	DYNC1H1	14	102505453	Missense_Mutation	SNP	G	TCGA-EJ-5495-01A-01D-1576-08	25202820	102505453	4844087	57	1898											
OR4M2	390538	broad.mit.edu	37	chr15	22369362	22369362	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccatctacatttatgctcgcCcatttgactcgttttcccta	7	16	4	14	2	1	1	0	1	1	0	4	1	2	1	3	0	2	2	3	0	3	7			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr15:22369362C>A	ENST00000332663.2	+	1	885	c.787C>A	c.(787-789)Cca>Aca	p.P263T	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P263T(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TTATGCTCGCCCATTTGACTC	0.418													39	616					1.49673e-21	1.93517e-21	1	1	0	A	22369362	C	A	22369362	3	1	34	1	0	0	0	0	1	0	0	0	11124	623	22	4	789	4	OR4M2	15	22369362	Missense_Mutation	SNP	C	TCGA-EJ-5495-01A-01D-1576-08		22369362	80162030	58	1899											
RAB11A	8766	broad.mit.edu	37	chr15	66169865	66169865	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atatcgagctataacatcagCgtaagtctcatggtttttaa	13	14	7	7	2	2	0	2	0	1	0	4	1	2	0	0	1	3	3	0	1	5	7			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr15:66169865C>A	ENST00000261890.2	+	2	364	c.236_splice	c.e2+1	p.A79_splice	RAB11A_ENST00000564910.1_Intron|RAB11A_ENST00000569896.1_Splice_Site_p.A79_splice|RAB11A_ENST00000435304.2_Splice_Site_p.A79_splice|RAB11A_ENST00000565075.1_Splice_Site_p.A79_splice	NM_001206836.1|NM_004663.4	NP_001193765.1|NP_004654.1	P62491	RB11A_HUMAN	RAB11A, member RAS oncogene family	79					cell cycle|cytokinesis|neuron projection development|plasma membrane to endosome transport|protein localization in plasma membrane|small GTPase mediated signal transduction|vesicle-mediated transport	cleavage furrow|plasma membrane|recycling endosome membrane|trans-Golgi network	GTP binding|GTPase activity|syntaxin binding	p.A79E(1)		kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5						ATAACATCAGCGTAAGTCTCA	0.393													4	69					0.150653	0.155513	1	1	0	A	66169865	C	A	66169865	5	1	34	1	0	0	0	0	0	0	1	0	12943	782	27	4	242	4	RAB11A	15	66169865	Splice_Site	SNP	C	TCGA-EJ-5495-01A-01D-1576-08	43800503	66169865	36361527	59	1900											
GPR139	124274	broad.mit.edu	37	chr16	20043984	20043984	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaggatgatcactgtcaaGatatttgctgtggagagaag	13	10	14	4	0	2	4	2	1	0	3	2	8	2	6	0	2	1	1	0	2	3	2			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr16:20043984G>T	ENST00000570682.1	-	2	435	c.135C>A	c.(133-135)atC>atA	p.I45I		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	45						integral to membrane|plasma membrane		p.I45I(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						TCACTGTCAAGATATTTGCTG	0.478													4	48					0.00024832	0.000274008	1	1	0	T	20043984	G	T	20043984	2	4	34	1	0	0	0	0	0	0	0	1	6688	932	33	4		4	GPR139	16	20043984	Silent	SNP	G	TCGA-EJ-5495-01A-01D-1576-08		20043984	70310769	60	1901											
GSG1L	146395	broad.mit.edu	37	chr16	27802719	27802719	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgccccaagacccagcacTgtcggttcagctctggtgct	7	9	11	14	1	2	1	1	0	1	1	3	1	2	1	3	2	4	4	3	2	1	1			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr16:27802719T>G	ENST00000380898.2	-	8	1106	c.557A>C	c.(556-558)cAg>cCg	p.Q186P	GSG1L_ENST00000380897.3_Missense_Mutation_p.Q168P|GSG1L_ENST00000447459.2_Missense_Mutation_p.Q323P|GSG1L_ENST00000395724.3_Missense_Mutation_p.Q272P|GSG1L_ENST00000569166.1_Missense_Mutation_p.Q186P			Q6UXU4	GSG1L_HUMAN	GSG1-like	323						integral to membrane		p.Q168P(1)|p.Q323P(1)		endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						GACCCAGCACTGTCGGTTCAG	0.642													14	96					0	0	1	0	0	G	27802719	T	G	27802719	3	3	34	1	0	0	0	0	1	0	0	0	6862	1580	55	5	31	5	GSG1L	16	27802719	Missense_Mutation	SNP	T	TCGA-EJ-5495-01A-01D-1576-08	7758735	27802719	62552034	61	1902			1	9		2	2	30	N	T_G	8.430768e-05
GSG1L	146395	broad.mit.edu	37	chr16	27802748	27802748	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctctggtgcttcctgtgcGgagctccggggccaggaatc	5	9	15	12	2	1	0	0	0	1	0	4	2	3	2	3	5	4	3	3	5	1	1			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr16:27802748G>C	ENST00000380898.2	-	8	1077	c.528C>G	c.(526-528)tcC>tcG	p.S176S	GSG1L_ENST00000380897.3_Silent_p.S158S|GSG1L_ENST00000447459.2_Silent_p.S313S|GSG1L_ENST00000395724.3_Silent_p.S262S|GSG1L_ENST00000569166.1_Silent_p.S176S			Q6UXU4	GSG1L_HUMAN	GSG1-like	313						integral to membrane		p.S313S(1)|p.S158S(1)		endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						CTTCCTGTGCGGAGCTCCGGG	0.637													9	72					0	0	1	0	0	C	27802748	G	C	27802748	2	2	34	1	0	0	0	0	0	0	0	1	6862	1103	39	4		4	GSG1L	16	27802748	Silent	SNP	G	TCGA-EJ-5495-01A-01D-1576-08	29	27802748	62552005	62	1903			1	9		2	2	30	N	T_G	8.430768e-05
VPS35	55737	broad.mit.edu	37	chr16	46712857	46712857	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taacaaaaatatataaacctGtttgtaacgttccacattta	17	14	3	7	1	0	0	0	0	0	0	1	0	1	0	2	0	3	3	2	0	9	9			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr16:46712857G>C	ENST00000299138.7	-	6	776	c.718C>G	c.(718-720)Cag>Gag	p.Q240E	VPS35_ENST00000568642.1_5'UTR	NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	240					protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding	p.Q240E(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				ATATAAACCTGTTTGTAACGT	0.308													39	188					0	0	1	0	0	C	46712857	G	C	46712857	3	2	34	1	0	0	0	0	1	0	0	0	17263	1386	48	4	1720	4	VPS35	16	46712857	Missense_Mutation	SNP	G	TCGA-EJ-5495-01A-01D-1576-08	18910109	46712857	43641896	63	1904											
GLOD4	51031	broad.mit.edu	37	chr17	674590	674590	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcagcatagcccagcaaaGccctttgcttttcttcatct	9	14	5	13	0	4	0	2	0	2	0	4	0	4	0	2	0	5	3	2	0	3	6			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr17:674590G>A	ENST00000301329.6	-	5	603	c.518C>T	c.(517-519)gCt>gTt	p.A173V	GLOD4_ENST00000301328.5_Missense_Mutation_p.A188V|GLOD4_ENST00000536578.1_Missense_Mutation_p.A164V	NM_016080.3	NP_057164.3	Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4	188						mitochondrion		p.A173V(1)		endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		GCCCAGCAAAGCCCTTTGCTT	0.368													51	396					0	0	1	0	0	A	674590	G	A	674590	3	1	34	1	0	0	0	0	1	0	0	0	6492	971	34	2	398	2	GLOD4	17	674590	Missense_Mutation	SNP	G	TCGA-EJ-5495-01A-01D-1576-08		674590	80520620	64	1905											
DNAH2	146754	broad.mit.edu	37	chr17	7673934	7673934	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcgacatagtaccctacaaGgataagggccatcatcggct	12	8	9	12	2	1	0	1	0	0	0	3	2	1	1	2	3	2	2	2	3	5	4			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr17:7673934G>A	ENST00000572933.1	+	26	5618	c.4158G>A	c.(4156-4158)aaG>aaA	p.K1386K	DNAH2_ENST00000389173.2_Silent_p.K1386K			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1386	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.K1386K(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TACCCTACAAGGATAAGGGCC	0.552													42	182					0	0	1	0	0	A	7673934	G	A	7673934	2	1	34	1	0	0	0	0	0	0	0	1	4630	991	35	2		2	DNAH2	17	7673934	Silent	SNP	G	TCGA-EJ-5495-01A-01D-1576-08	6999344	7673934	73521276	65	1906											
ANKRD13B	124930	broad.mit.edu	37	chr17	27934857	27934857	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccgtgtgctcctggcgcacgGcgcagacgtgggcagggaga	6	5	18	12	5	0	2	0	0	0	2	1	3	1	2	2	4	1	4	2	4	0	0			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr17:27934857G>A	ENST00000394859.3	+	2	366	c.212G>A	c.(211-213)gGc>gAc	p.G71D	RP11-68I3.2_ENST00000581474.1_RNA	NM_152345.4	NP_689558.4	Q86YJ7	AN13B_HUMAN	ankyrin repeat domain 13B	71								p.G71D(1)		cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						CTGGCGCACGGCGCAGACGTG	0.701													16	72					0	0	1	0	0	A	27934857	G	A	27934857	3	1	34	1	0	0	0	0	1	0	0	0	638	1203	42	2	218	2	ANKRD13B	17	27934857	Missense_Mutation	SNP	G	TCGA-EJ-5495-01A-01D-1576-08	20260923	27934857	53260353	66	1907											
TAF15	8148	broad.mit.edu	37	chr17	34174030	34174030	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcctgctgctttcctcgtggCctcttcttgggtagtgaaat	4	15	11	11	1	2	1	0	1	2	0	4	1	3	1	3	2	2	3	3	2	2	4			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr17:34174030C>G	ENST00000592237.1	+	19	1803	c.1274C>G	c.(1273-1275)gCc>gGc	p.A425G	TAF15_ENST00000311979.3_3'UTR|TAF15_ENST00000588240.1_3'UTR			Q92804	RBP56_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	0	21 X approximate tandem repeats of D-R- [S,G](0,3)-G-G-Y-G-G.|Arg/Gly-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TTCCTCGTGGCCTCTTCTTGG	0.438			T	"TEC, CHN1, ZNF384"	"extraskeletal myxoid chondrosarcomas, ALL"								13	88					0	0	1	0	0	G	34174030	C	G	34174030	3	3	34	1	0	0	0	0	1	0	0	0	15575	754	26	4		4	TAF15	17	34174030	Missense_Mutation	SNP	C	TCGA-EJ-5495-01A-01D-1576-08	6239173	34174030	47021180	67	1908											
MED13	9969	broad.mit.edu	37	chr17	60140573	60140573	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgactaaaactgctcaaaatGgggtcttcttctgtcacagg	11	11	9	10	1	5	0	2	0	3	0	5	1	5	0	0	3	2	1	0	3	4	3			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr17:60140573G>A	ENST00000397786.2	-	2	232	c.156C>T	c.(154-156)ccC>ccT	p.P52P		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	52					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.P52P(1)		breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TGCTCAAAATGGGGTCTTCTT	0.453													67	287					0	0	1	0	0	A	60140573	G	A	60140573	2	1	34	1	0	0	0	0	0	0	0	1	9480	1335	47	2		2	MED13	17	60140573	Silent	SNP	G	TCGA-EJ-5495-01A-01D-1576-08	25966543	60140573	21054637	68	1909											
SSTR2	0	broad.mit.edu	37	chr17	71165834	71165834	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgactgtggatggcatcaatCagttcaccagcatcttctgc	9	12	9	11	0	5	1	3	1	2	0	5	2	5	2	1	2	2	3	1	2	1	2			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr17:71165834C>G	ENST00000357585.2	+	2	745	c.376C>G	c.(376-378)Cag>Gag	p.Q126E	SSTR2_ENST00000315332.2_Missense_Mutation_p.Q126E|RP11-143K11.5_ENST00000580671.1_RNA	NM_001050.2	NP_001041.1	P30874	SSR2_HUMAN	somatostatin receptor 2	126					digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity	p.Q126E(1)		endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)			TGGCATCAATCAGTTCACCAG	0.587													25	104					0	0	1	0	0	G	71165834	C	G	71165834	3	3	34	1	0	0	0	0	1	0	0	0	15254	827	29	4	378	4	SSTR2	17	71165834	Missense_Mutation	SNP	C	TCGA-EJ-5495-01A-01D-1576-08	11025261	71165834	10029376	69	1910											
NPTX1	4884	broad.mit.edu	37	chr17	78449346	78449346	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgatccgctggtgcagggagGtcagggcggtctcgatcttg	5	10	17	9	3	3	1	1	1	2	0	5	3	4	2	1	5	1	2	1	5	0	1			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr17:78449346G>T	ENST00000306773.4	-	2	774	c.617C>A	c.(616-618)aCc>aAc	p.T206N	NPTX1_ENST00000575212.1_5'UTR	NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	neuronal pentraxin I	206					central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding	p.T206N(1)		kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			GTGCAGGGAGGTCAGGGCGGT	0.687													6	46					0.0215528	0.0226127	1	1	0	T	78449346	G	T	78449346	3	4	34	1	0	0	0	0	1	0	0	0	10650	1261	44	4	697	4	NPTX1	17	78449346	Missense_Mutation	SNP	G	TCGA-EJ-5495-01A-01D-1576-08	7283512	78449346	2745864	70	1911											
EPB41L3	23136	broad.mit.edu	37	chr18	5445182	5445182	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acgtaagcccaaagtagtctTtctctagcaagttcaagtgt	12	12	8	9	1	3	0	1	0	2	0	4	0	3	0	1	0	2	4	1	0	6	5			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr18:5445182T>G	ENST00000341928.2	-	4	783	c.443A>C	c.(442-444)aAa>aCa	p.K148T	EPB41L3_ENST00000400111.3_Missense_Mutation_p.K148T|EPB41L3_ENST00000540638.2_Missense_Mutation_p.K148T|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000342933.3_Missense_Mutation_p.K148T|EPB41L3_ENST00000544123.1_Missense_Mutation_p.K148T	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	148	FERM.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	p.K148T(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						AAAGTAGTCTTTCTCTAGCAA	0.408													48	278					0	0	1	0	0	G	5445182	T	G	5445182	3	3	34	1	0	0	0	0	1	0	0	0	5182	1841	64	5	2896	5	EPB41L3	18	5445182	Missense_Mutation	SNP	T	TCGA-EJ-5495-01A-01D-1576-08		5445182	72632066	71	1912											
SETBP1	26040	broad.mit.edu	37	chr18	42530401	42530401	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaaagcatttgacaatacaGaagggaaaagggaaggttat	19	7	12	3	0	0	3	0	1	0	2	0	5	0	5	0	3	2	2	0	3	8	3			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr18:42530401G>A	ENST00000282030.5	+	4	1392	c.1096G>A	c.(1096-1098)Gaa>Aaa	p.E366K		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	366						nucleus	DNA binding	p.E366K(2)|p.E312K(2)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TGACAATACAGAAGGGAAAAG	0.453									Schinzel-Giedion syndrome				33	149					0	0	1	0	0	A	42530401	G	A	42530401	3	1	34	1	0	0	0	0	1	0	0	0	14183	943	33	2	1299	2	SETBP1	18	42530401	Missense_Mutation	SNP	G	TCGA-EJ-5495-01A-01D-1576-08	37085219	42530401	35546847	72	1913											
PIP5K1C	23396	broad.mit.edu	37	chr19	3643243	3643243	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcggatgcctcgcccacctGtaccgcggctgctccgacgt	4	8	12	17	6	0	0	0	0	0	0	2	2	1	1	5	2	4	3	5	2	1	1			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr19:3643243G>A	ENST00000335312.3	-	13	1735	c.1647C>T	c.(1645-1647)taC>taT	p.Y549Y	PIP5K1C_ENST00000539785.1_Silent_p.Y549Y|PIP5K1C_ENST00000537021.1_Silent_p.Y549Y|PIP5K1C_ENST00000589578.1_Silent_p.Y549Y	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	549					axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding	p.Y549Y(1)		large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		TCGCCCACCTGTACCGCGGCT	0.657													14	64					0	0	1	0	0	A	3643243	G	A	3643243	2	1	34	1	0	0	0	0	0	0	0	1	11989	1372	48	2		2	PIP5K1C	19	3643243	Silent	SNP	G	TCGA-EJ-5495-01A-01D-1576-08		3643243	55485740	73	1914											
FBN3	84467	broad.mit.edu	37	chr19	8212299	8212299	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccacctgccatgcacaacagGgccgaccaggccagcaggag	11	2	12	16	1	0	0	0	0	0	0	0	2	0	1	6	3	4	2	6	3	1	0			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr19:8212299G>A	ENST00000600128.1	-	2	480	c.66C>T	c.(64-66)gcC>gcT	p.A22A	FBN3_ENST00000270509.2_Silent_p.A22A|FBN3_ENST00000601739.1_Silent_p.A22A			Q75N90	FBN3_HUMAN	fibrillin 3	22						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	p.A22A(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TGCACAACAGGGCCGACCAGG	0.692													4	16					0	0	1	0	0	A	8212299	G	A	8212299	2	1	34	1	0	0	0	0	0	0	0	1	5737	1219	43	2		2	FBN3	19	8212299	Silent	SNP	G	TCGA-EJ-5495-01A-01D-1576-08	4569056	8212299	50916684	74	1915											
ZNF85	7639	broad.mit.edu	37	chr19	21132414	21132414	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacacatgaggtaattcataCtggagagaaaccctacaaat	17	8	7	9	0	1	2	1	1	0	1	1	4	1	3	1	2	3	1	1	2	5	4	rs144723751	by1000genomes	TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr19:21132414C>A	ENST00000601023.1	+	2	1563	c.917C>A	c.(916-918)aCt>aAt	p.T306N	ZNF85_ENST00000345030.6_Missense_Mutation_p.T332N|ZNF85_ENST00000328178.8_Missense_Mutation_p.T365N			Q03923	ZNF85_HUMAN	zinc finger protein 85	365						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.T365N(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						GTAATTCATACTGGAGAGAAA	0.358													4	106					0.150653	0.155513	1	1	0	A	21132414	C	A	21132414	3	1	34	1	0	0	0	0	1	0	0	0	18237	565	20	4	1108	4	ZNF85	19	21132414	Missense_Mutation	SNP	C	TCGA-EJ-5495-01A-01D-1576-08	12920115	21132414	37996569	75	1916											
CLIP3	25999	broad.mit.edu	37	chr19	36508303	36508303	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacttgtcacttgatgcaCttttttggctccaacgctgt	6	16	7	12	1	2	1	2	1	0	0	3	1	3	1	1	1	2	3	1	1	1	5			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr19:36508303C>T	ENST00000360535.4	-	12	1728	c.1501G>A	c.(1501-1503)Gtg>Atg	p.V501M	CLIP3_ENST00000593074.1_Missense_Mutation_p.V501M|AC002116.7_ENST00000586962.1_RNA	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	501	GoLD.				chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding	p.V501M(1)		cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			ACTTGATGCACTTTTTTGGCT	0.547													3	79					0	0	1	0	0	T	36508303	C	T	36508303	3	4	34	1	0	0	0	0	1	0	0	0	3557	565	20	2	154	2	CLIP3	19	36508303	Missense_Mutation	SNP	C	TCGA-EJ-5495-01A-01D-1576-08	15375889	36508303	22620680	76	1917											
BCKDHA	593	broad.mit.edu	37	chr19	41903833	41903833	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctggggctcggggactggCtagatctgtgagtacctggg	5	9	18	9	1	1	2	0	1	1	1	2	3	1	3	2	6	1	3	2	6	2	2			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr19:41903833C>A	ENST00000269980.2	+	1	469	c.101C>A	c.(100-102)gCt>gAt	p.A34D	BCKDHA_ENST00000457836.2_Intron|CTC-435M10.3_ENST00000540732.1_Intron|BCKDHA_ENST00000595085.1_Intron	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide	34					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding	p.A34D(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						CGGGGACTGGCTAGATCTGTG	0.602													6	57					0.0215528	0.0226127	1	1	0	A	41903833	C	A	41903833	3	1	34	1	0	0	0	0	1	0	0	0	1357	797	28	4	103	4	BCKDHA	19	41903833	Missense_Mutation	SNP	C	TCGA-EJ-5495-01A-01D-1576-08	5395530	41903833	17225150	77	1918											
DMRTC2	63946	broad.mit.edu	37	chr19	42354650	42354650	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctcagagtggcagctgcaGcaagaggcagctgaagccct	10	5	13	13	0	1	3	1	1	0	2	1	3	1	3	2	2	5	6	2	2	2	0			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr19:42354650G>C	ENST00000269945.3	+	8	924	c.873G>C	c.(871-873)caG>caC	p.Q291H	DMRTC2_ENST00000596827.1_Missense_Mutation_p.Q342H	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	291	Pro-rich.				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	p.Q291H(1)		endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						GGCAGCTGCAGCAAGAGGCAG	0.632													8	94					0	0	1	0	0	C	42354650	G	C	42354650	3	2	34	1	0	0	0	0	1	0	0	0	4619	962	34	4	899	4	DMRTC2	19	42354650	Missense_Mutation	SNP	G	TCGA-EJ-5495-01A-01D-1576-08	450817	42354650	16774333	78	1919											
ATP1A3	478	broad.mit.edu	37	chr19	42492276	42492276	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccaggatctcctgggcttTgctgtgggtcaaaccctgag	6	10	14	11	0	2	1	1	1	1	0	3	2	2	2	3	4	2	2	3	4	1	1			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr19:42492276T>C	ENST00000545399.1	-	4	361	c.208A>G	c.(208-210)Aaa>Gaa	p.K70E	ATP1A3_ENST00000602133.1_Missense_Mutation_p.K27E|ATP1A3_ENST00000543770.1_Missense_Mutation_p.K68E|ATP1A3_ENST00000468774.2_5'UTR|ATP1A3_ENST00000302102.5_Missense_Mutation_p.K57E	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	57					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.K57E(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						TCCTGGGCTTTGCTGTGGGTC	0.627													20	113					0	0	1	0	0	C	42492276	T	C	42492276	3	2	34	1	0	0	0	0	1	0	0	0	1129	1821	63	3	2952	3	ATP1A3	19	42492276	Missense_Mutation	SNP	T	TCGA-EJ-5495-01A-01D-1576-08	137626	42492276	16636707	79	1920											
GLTSCR1	29998	broad.mit.edu	37	chr19	48176998	48176998	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacccacaggccctcaatgaCttcttgcatggatccgagaa	11	8	9	13	1	2	2	1	1	1	1	3	5	3	3	3	2	1	1	3	2	2	2			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr19:48176998C>A	ENST00000396720.3	+	4	257	c.63C>A	c.(61-63)gaC>gaA	p.D21E	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	21							protein binding	p.D21E(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		CCCTCAATGACTTCTTGCATG	0.592													28	132					7.01153e-11	8.38763e-11	1	1	0	A	48176998	C	A	48176998	3	1	34	1	0	0	0	0	1	0	0	0	6516	564	20	4	69	4	GLTSCR1	19	48176998	Missense_Mutation	SNP	C	TCGA-EJ-5495-01A-01D-1576-08	5684722	48176998	10951985	80	1921											
ZNF616	90317	broad.mit.edu	37	chr19	52619794	52619794	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttgtaaggtttctctgtaGtatgtatcctctgatgatta	9	19	8	5	0	2	2	0	2	2	0	4	2	3	2	1	1	0	5	1	1	5	7			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr19:52619794G>C	ENST00000600228.1	-	4	884	c.623C>G	c.(622-624)aCt>aGt	p.T208S	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	208					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T208S(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		TTTCTCTGTAGTATGTATCCT	0.393													6	294					0	0	1	0	0	C	52619794	G	C	52619794	3	2	34	1	0	0	0	0	1	0	0	0	18098	1029	36	4	1726	4	ZNF616	19	52619794	Missense_Mutation	SNP	G	TCGA-EJ-5495-01A-01D-1576-08	4442796	52619794	6509189	81	1922											
ZNF17	7565	broad.mit.edu	37	chr19	57931923	57931923	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcagaaagttcacactggaGaaaggcctttttattgctgt	12	13	9	7	0	2	2	2	0	0	2	2	3	2	2	1	2	1	2	1	2	3	5			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr19:57931923G>A	ENST00000307658.7	+	4	1332	c.1069G>A	c.(1069-1071)Gaa>Aaa	p.E357K	ZNF17_ENST00000601808.1_Missense_Mutation_p.E355K|AC004076.7_ENST00000597410.1_Intron			P17021	ZNF17_HUMAN	zinc finger protein 17	355					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E355K(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		TCACACTGGAGAAAGGCCTTT	0.388													42	187					0	0	1	0	0	A	57931923	G	A	57931923	3	1	34	1	0	0	0	0	1	0	0	0	17801	943	33	2	1073	2	ZNF17	19	57931923	Missense_Mutation	SNP	G	TCGA-EJ-5495-01A-01D-1576-08	5312129	57931923	1197060	82	1923											
STK35	140901	broad.mit.edu	37	chr20	2083973	2083973	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagtcacggcaacaagagctCgcagctttacctgcgcctgg	9	7	12	13	3	1	1	1	0	0	1	2	2	1	1	2	2	5	4	2	2	3	2			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr20:2083973C>T	ENST00000381482.3	+	2	1125	c.854C>T	c.(853-855)tCg>tTg	p.S285L	STK35_ENST00000246032.3_Missense_Mutation_p.S152L|STK35_ENST00000400064.3_Missense_Mutation_p.S113L			Q8TDR2	STK35_HUMAN	serine/threonine kinase 35	285	Protein kinase.					cytoplasm|nucleolus	ATP binding|protein serine/threonine kinase activity	p.S285L(1)		large_intestine(2)|liver(2)|lung(6)|ovary(1)|prostate(2)	13						AACAAGAGCTCGCAGCTTTAC	0.647													6	63					0	0	1	0	0	T	2083973	C	T	2083973	3	4	34	1	0	0	0	0	1	0	0	0	15357	893	31	1	860	1	STK35	20	2083973	Missense_Mutation	SNP	C	TCGA-EJ-5495-01A-01D-1576-08		2083973	60941547	83	1924											
ZNF341	84905	broad.mit.edu	37	chr20	32379198	32379198	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcggtgggcgcggaaactGagctggtggtacctggacac	7	7	18	9	3	0	1	0	1	0	0	0	3	0	3	1	6	4	2	1	6	2	1			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr20:32379198G>T	ENST00000375200.1	+	15	2805	c.2440G>T	c.(2440-2442)Gag>Tag	p.E814*	ZNF341_ENST00000342427.2_Nonsense_Mutation_p.E807*|RP4-553F4.6_ENST00000423074.1_RNA|RP4-553F4.6_ENST00000443171.1_RNA|RP4-553F4.6_ENST00000439444.1_RNA			Q9BYN7	ZN341_HUMAN	zinc finger protein 341	814					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E807*(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						CGCGGAAACTGAGCTGGTGGT	0.711													7	69					0.00307968	0.0033126	1	1	0	T	32379198	G	T	32379198	4	4	34	1	0	0	0	0	0	1	0	0	17914	1291	45	4	2477	4	ZNF341	20	32379198	Nonsense_Mutation	SNP	G	TCGA-EJ-5495-01A-01D-1576-08	30295225	32379198	30646322	84	1925											
CYYR1	116159	broad.mit.edu	37	chr21	27840880	27840880	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgctgtgctggaccctgtggGgtgggggagtatggaggagg	5	8	22	6	1	0	0	0	0	0	0	0	4	0	4	1	8	1	3	1	8	1	1			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr21:27840880G>T	ENST00000299340.4	-	4	748	c.405C>A	c.(403-405)acC>acA	p.T135T	AP001597.1_ENST00000414486.1_RNA|CYYR1_ENST00000435845.2_3'UTR|AP001596.6_ENST00000421771.1_RNA|AP001597.1_ENST00000357401.3_RNA|AP001596.6_ENST00000444306.1_RNA|AP001596.6_ENST00000429340.1_RNA	NM_052954.2	NP_443186.1	Q96J86	CYYR1_HUMAN	cysteine/tyrosine-rich 1	135						integral to membrane		p.T135T(1)		large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						GACCCTGTGGGGTGGGGGAGT	0.532													20	101					1.2644e-06	1.44503e-06	1	1	0	T	27840880	G	T	27840880	2	4	34	1	0	0	0	0	0	0	0	1	4234	1219	43	4		4	CYYR1	21	27840880	Silent	SNP	G	TCGA-EJ-5495-01A-01D-1576-08		27840880	20289015	85	1926											
DSCAM	1826	broad.mit.edu	37	chr21	41424003	41424003	+	Frame_Shift_Del	DEL	A	A	-																															ttagctgcctctccaaagtcAgcatccgtcaacagaaccgt																										TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr21:41424003delA	ENST00000400454.1	-	30	5544	c.5067delT	c.(5065-5067)gcfs	p.A1689fs		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1689					cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTCCAAAGTCAGCATCCGTCA	0.532													19	168	---	---	---	---						-	41424003	A	-	41424003	7	5	34	1	0	1	0	1	0	0	0	0	4794	175	7	0	987	0	DSCAM	21	41424003	Frame_Shift_Del	DEL	A	TCGA-EJ-5495-01A-01D-1576-08	13583123	41424003	6705892	86	1927											
GGT5	2687	broad.mit.edu	37	chr22	24621251	24621251	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgagctccccgccagcccCgccaatcactagcttcgacc	8	6	8	19	3	1	1	1	1	0	0	3	3	2	1	7	0	3	2	7	0	2	2			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr22:24621251C>T	ENST00000327365.4	-	10	1881	c.1465G>A	c.(1465-1467)Ggg>Agg	p.G489R	GGT5_ENST00000263112.7_Missense_Mutation_p.G457R|GGT5_ENST00000398292.3_Missense_Mutation_p.G490R|GGT5_ENST00000418439.2_Missense_Mutation_p.G413R	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	489					glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity	p.G489R(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						CCGCCAGCCCCGCCAATCACT	0.622													26	92					0	0	1	0	0	T	24621251	C	T	24621251	3	4	34	1	0	0	0	0	1	0	0	0	6404	652	23	1	307	1	GGT5	22	24621251	Missense_Mutation	SNP	C	TCGA-EJ-5495-01A-01D-1576-08		24621251	26683315	87	1928											
APOL1	8542	broad.mit.edu	37	chr22	36661373	36661373	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctccgtgcccttgcagatgGggttcagaaggtccacaaag	9	8	13	11	1	1	2	1	0	0	2	3	2	3	2	3	3	2	3	3	3	2	2			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr22:36661373G>T	ENST00000319136.4	+	7	806	c.539G>T	c.(538-540)gGg>gTg	p.G180V	APOL1_ENST00000347595.7_Missense_Mutation_p.G43V|APOL1_ENST00000397278.3_Missense_Mutation_p.G164V|APOL1_ENST00000422706.1_Missense_Mutation_p.G164V|APOL1_ENST00000397279.4_Missense_Mutation_p.G164V|APOL1_ENST00000426053.1_Missense_Mutation_p.G146V|APOL1_ENST00000440669.2_3'UTR	NM_145343.2	NP_663318.1	O14791	APOL1_HUMAN	apolipoprotein L, 1	164					cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding	p.G180V(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						CTTGCAGATGGGGTTCAGAAG	0.522													39	215					1.60099e-16	2.00908e-16	1	1	0	T	36661373	G	T	36661373	3	4	34	1	0	0	0	0	1	0	0	0	802	1232	43	4	561	4	APOL1	22	36661373	Missense_Mutation	SNP	G	TCGA-EJ-5495-01A-01D-1576-08	12040122	36661373	14643193	88	1929											
TBC1D22A	25771	broad.mit.edu	37	chr22	47432981	47432981	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcagagcaagtgcaccggCacctggaccaacacgaagtg	12	4	13	12	2	0	1	0	0	0	1	0	3	0	2	3	2	4	4	3	2	3	0			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chr22:47432981C>T	ENST00000337137.4	+	11	1382	c.1216C>T	c.(1216-1218)Cac>Tac	p.H406Y	TBC1D22A_ENST00000406733.1_Missense_Mutation_p.H359Y|TBC1D22A_ENST00000355704.3_Missense_Mutation_p.H328Y|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.H347Y	NM_014346.2	NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	406	Rab-GAP TBC.					intracellular	protein homodimerization activity|Rab GTPase activator activity	p.H406Y(1)		breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		AGTGCACCGGCACCTGGACCA	0.597													17	110					0	0	1	0	0	T	47432981	C	T	47432981	3	4	34	1	0	0	0	0	1	0	0	0	15668	710	25	2	1258	2	TBC1D22A	22	47432981	Missense_Mutation	SNP	C	TCGA-EJ-5495-01A-01D-1576-08	10771608	47432981	3871585	89	1930											
MAGEA11	4110	broad.mit.edu	37	chrX	148798036	148798036	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgtcacctccctcaaccTctcttatgatggcatacagt	8	13	5	15	0	3	1	2	1	1	0	5	1	4	1	4	1	2	1	4	1	3	3			TCGA-EJ-5495-01A-01D-1576-08	TCGA-EJ-5495-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29a06cd9-5e37-41b7-954f-173a2ab44179	695fd2d7-9426-45e1-81f0-79fbdf6ba0bf	g.chrX:148798036T>A	ENST00000355220.5	+	5	992	c.890T>A	c.(889-891)cTc>cAc	p.L297H	MAGEA11_ENST00000333104.4_Missense_Mutation_p.L268H	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	297	MAGE.					cytoplasm|nucleus	protein binding	p.L297H(1)		cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TCCCTCAACCTCTCTTATGAT	0.498													56	78					0	0	1	0	0	A	148798036	T	A	148798036	3	1	34	1	0	0	0	0	1	0	0	0	9211	1551	54	5	917	5	MAGEA11	23	148798036	Missense_Mutation	SNP	T	TCGA-EJ-5495-01A-01D-1576-08		148798036	6472524	90	1931											
HSPG2	3339	broad.mit.edu	37	chr1	22173919	22173919	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcatcgatgttgttgttggCccggcacacatactcgcccg	6	10	12	13	4	0	0	0	0	0	0	2	1	0	0	2	3	1	5	2	3	1	4			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr1:22173919C>T	ENST00000374695.3	-	62	8171	c.8092G>A	c.(8092-8094)Gcc>Acc	p.A2698T	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2698	Ig-like C2-type 12.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	p.A2698T(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	TTGTTGTTGGCCCGGCACACA	0.642													4	118					0	0	0.009096	0	0	T	22173919	C	T	22173919	3	4	35	1	0	0	0	0	1	0	0	0	7474	739	26	2	5227	2	HSPG2	1	22173919	Missense_Mutation	SNP	C	TCGA-EJ-5496-01A-01D-1576-08		22173919	227076702	1	1932											
ARID1A	8289	broad.mit.edu	37	chr1	27106761	27106761	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcttggaaaccctcagcaaActcagcatccaggacaacaa	15	6	7	13	0	3	0	2	0	1	0	4	2	4	2	2	2	5	2	2	2	4	1			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr1:27106761A>G	ENST00000324856.7	+	20	6743	c.6372A>G	c.(6370-6372)aaA>aaG	p.K2124K	ARID1A_ENST00000457599.2_Silent_p.K1907K|ARID1A_ENST00000374152.2_Silent_p.K1741K|ARID1A_ENST00000540690.1_Silent_p.K452K	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	2124					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.K2124K(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCCTCAGCAAACTCAGCATCC	0.582			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								37	141					0	0	0.007835	0	0	G	27106761	A	G	27106761	2	3	35	1	0	0	0	0	0	0	0	1	910	40	2	3		3	ARID1A	1	27106761	Silent	SNP	A	TCGA-EJ-5496-01A-01D-1576-08	4932842	27106761	222143860	2	1933											
EPB41	2035	broad.mit.edu	37	chr1	29314300	29314300	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaggtcagaaagagatagaAtttggaaccagtcttgatga	15	9	13	4	0	2	5	1	2	1	3	2	8	2	7	1	3	1	0	1	3	4	3			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr1:29314300A>G	ENST00000343067.4	+	2	478	c.351A>G	c.(349-351)gaA>gaG	p.E117E	EPB41_ENST00000398863.2_Silent_p.E117E|EPB41_ENST00000373798.1_Silent_p.E117E|EPB41_ENST00000373800.3_5'UTR|EPB41_ENST00000356093.2_Silent_p.E117E|EPB41_ENST00000349460.4_5'UTR|EPB41_ENST00000347529.3_Silent_p.E117E|EPB41_ENST00000373797.1_Silent_p.E117E	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)	117					blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton	p.E117E(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		AAGAGATAGAATTTGGAACCA	0.423													8	286					0	0	0.00308	0	0	G	29314300	A	G	29314300	2	3	35	1	0	0	0	0	0	0	0	1	5179	98	4	3		3	EPB41	1	29314300	Silent	SNP	A	TCGA-EJ-5496-01A-01D-1576-08	2207539	29314300	219936321	3	1934											
DMBX1	127343	broad.mit.edu	37	chr1	46977762	46977762	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggccccagggggtggcCtcctgggcccctcccactcc	2	7	13	19	0	0	0	0	0	0	0	3	0	3	0	8	5	0	0	8	5	0	0			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr1:46977762C>T	ENST00000371956.4	+	4	760	c.745C>T	c.(745-747)Ctc>Ttc	p.L249F	DMBX1_ENST00000360032.3_Missense_Mutation_p.L244F	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN	diencephalon/mesencephalon homeobox 1	249					brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.L249F(1)		endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					AGGGGGTGGCCTCCTGGGCCC	0.627													59	289					0	0	0.01441	0	0	T	46977762	C	T	46977762	3	4	35	1	0	0	0	0	1	0	0	0	4606	681	24	2	759	2	DMBX1	1	46977762	Missense_Mutation	SNP	C	TCGA-EJ-5496-01A-01D-1576-08	17663462	46977762	202272859	4	1935											
WARS2	10352	broad.mit.edu	37	chr1	119576827	119576827	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatcctccccaacaggaacGtgtgtggacctttaataaaa	13	10	8	10	1	0	1	0	1	0	0	2	3	2	3	4	2	2	0	4	2	5	3			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr1:119576827G>A	ENST00000369426.5	-	5	528	c.525C>T	c.(523-525)caC>caT	p.H175H	WARS2_ENST00000537870.1_Silent_p.H81H|WARS2_ENST00000235521.4_Silent_p.H175H			Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	175					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity	p.H175H(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	CAACAGGAACGTGTGTGGACC	0.433													8	140					0	0	0.00308	0	0	A	119576827	G	A	119576827	2	1	35	1	0	0	0	0	0	0	0	1	17310	1136	40	1		1	WARS2	1	119576827	Silent	SNP	G	TCGA-EJ-5496-01A-01D-1576-08	72599065	119576827	129673794	5	1936											
KCNT2	343450	broad.mit.edu	37	chr1	196459055	196459055	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagagaaaaattgaacaggCgtatccttagacctttaaac	16	10	8	7	1	0	4	0	2	0	2	1	5	1	4	2	1	2	1	2	1	7	5			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr1:196459055C>T	ENST00000367433.5	-	3	289	c.188G>A	c.(187-189)cGc>cAc	p.R63H	KCNT2_ENST00000367431.4_Missense_Mutation_p.R63H|KCNT2_ENST00000294725.8_Missense_Mutation_p.R63H|KCNT2_ENST00000451324.2_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	63						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.R63P(1)|p.R63H(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						ATTGAACAGGCGTATCCTTAG	0.289													51	173					0	0	0.01441	0	0	T	196459055	C	T	196459055	3	4	35	1	0	0	0	0	1	0	0	0	8136	768	27	1	3323	1	KCNT2	1	196459055	Missense_Mutation	SNP	C	TCGA-EJ-5496-01A-01D-1576-08	76882228	196459055	52791566	6	1937											
NBAS	51594	broad.mit.edu	37	chr2	15608534	15608534	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atctgctcctttccctattgCtaaaagagcctccaggtctg	8	13	7	13	0	2	1	0	0	2	1	5	1	5	1	4	1	3	2	4	1	3	4			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr2:15608534C>T	ENST00000281513.5	-	17	1874	c.1849G>A	c.(1849-1851)Gca>Aca	p.A617T	NBAS_ENST00000441750.1_Missense_Mutation_p.A617T	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	617								p.A617T(1)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TTCCCTATTGCTAAAAGAGCC	0.413													52	254					0	0	0.01441	0	0	T	15608534	C	T	15608534	3	4	35	1	0	0	0	0	1	0	0	0	10234	797	28	2	5410	2	NBAS	2	15608534	Missense_Mutation	SNP	C	TCGA-EJ-5496-01A-01D-1576-08		15608534	227590839	7	1938											
CCDC150	284992	broad.mit.edu	37	chr2	197583282	197583282	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcccgaacagtgaagtgtcGtaatgcggccctgaaagaga	12	7	13	9	3	0	3	0	2	0	1	2	5	1	3	2	1	2	1	2	1	4	1			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr2:197583282G>A	ENST00000389175.4	+	18	2057	c.1922G>A	c.(1921-1923)cGt>cAt	p.R641H	CCDC150_ENST00000409270.1_Missense_Mutation_p.R128H|CCDC150_ENST00000272831.7_Missense_Mutation_p.R288H	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	641								p.R641H(1)		breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GTGAAGTGTCGTAATGCGGCC	0.428													17	54					0	0	0.004007	0	0	A	197583282	G	A	197583282	3	1	35	1	0	0	0	0	1	0	0	0	2803	1145	40	1	1992	1	CCDC150	2	197583282	Missense_Mutation	SNP	G	TCGA-EJ-5496-01A-01D-1576-08	181974748	197583282	45616091	8	1939											
OSBPL10	114884	broad.mit.edu	37	chr3	31710253	31710253	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtgaactctaaagtaccattCcattccccatgggctttaca	11	12	6	12	0	1	1	0	1	1	0	3	1	3	1	4	1	3	2	4	1	5	6			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr3:31710253C>T	ENST00000396556.2	-	10	2099	c.1977G>A	c.(1975-1977)tgG>tgA	p.W659*	OSBPL10_ENST00000438237.2_Nonsense_Mutation_p.W595*	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	659					lipid transport		lipid binding	p.W659*(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		AAGTACCATTCCATTCCCCAT	0.433													72	242					0	0	0.01441	0	0	T	31710253	C	T	31710253	4	4	35	1	0	0	0	0	0	1	0	0	11322	856	30	2	329	2	OSBPL10	3	31710253	Nonsense_Mutation	SNP	C	TCGA-EJ-5496-01A-01D-1576-08		31710253	166312177	9	1940											
B3GALNT1	8706	broad.mit.edu	37	chr3	160803633	160803633	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatgggctgcaatcacacGtctcagttgacagacatcca	11	8	9	13	1	2	2	2	1	1	1	4	2	3	2	2	1	1	3	2	1	1	1	rs143966469		TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr3:160803633G>A	ENST00000392781.2	-	8	1657	c.910C>T	c.(910-912)Cgt>Tgt	p.R304C	B3GALNT1_ENST00000473285.1_Missense_Mutation_p.R304C|B3GALNT1_ENST00000488170.1_Missense_Mutation_p.R304C|B3GALNT1_ENST00000320474.4_Missense_Mutation_p.R304C|B3GALNT1_ENST00000417187.1_Missense_Mutation_p.R64C|B3GALNT1_ENST00000392779.2_Missense_Mutation_p.R304C|B3GALNT1_ENST00000392780.1_Missense_Mutation_p.R304C	NM_001038628.1	NP_001033717.1	O75752	B3GL1_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)	304					protein glycosylation	Golgi membrane|integral to membrane	galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	p.R304C(1)		breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)			GCAATCACACGTCTCAGTTGA	0.378													20	72					0	0	0.010504	0	0	A	160803633	G	A	160803633	3	1	35	1	0	0	0	0	1	0	0	0	1243	1145	40	1	89	1	B3GALNT1	3	160803633	Missense_Mutation	SNP	G	TCGA-EJ-5496-01A-01D-1576-08	129093380	160803633	37218797	10	1941											
ACOX3	8310	broad.mit.edu	37	chr4	8416610	8416610	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagatcttttgaatatatgTgagatgtctttcagaaccag	13	14	9	5	0	3	4	1	2	2	3	3	6	3	4	1	0	1	0	1	0	5	5			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr4:8416610T>C	ENST00000356406.5	-	4	501	c.424A>G	c.(424-426)Aca>Gca	p.T142A	ACOX3_ENST00000413009.2_Missense_Mutation_p.T142A|ACOX3_ENST00000503233.1_Missense_Mutation_p.T142A	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	142					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity	p.T142A(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						TGAATATATGTGAGATGTCTT	0.403													4	109					0	0	0.014758	0	0	C	8416610	T	C	8416610	3	2	35	1	0	0	0	0	1	0	0	0	160	1696	59	3	1738	3	ACOX3	4	8416610	Missense_Mutation	SNP	T	TCGA-EJ-5496-01A-01D-1576-08		8416610	182737666	11	1942											
LIMCH1	22998	broad.mit.edu	37	chr4	41648713	41648713	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaatcccatgaaatacctgCggcaacagtcactgcctcca	12	7	6	16	1	1	1	1	1	0	0	3	1	3	1	5	1	4	1	5	1	4	1	rs143733086	by1000genomes	TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr4:41648713C>T	ENST00000313860.7	+	12	1522	c.1468C>T	c.(1468-1470)Cgg>Tgg	p.R490W	LIMCH1_ENST00000514096.1_Missense_Mutation_p.R331W|LIMCH1_ENST00000513024.1_Missense_Mutation_p.R319W|LIMCH1_ENST00000503057.1_Missense_Mutation_p.R875W|LIMCH1_ENST00000512820.1_Missense_Mutation_p.R478W|LIMCH1_ENST00000512946.1_Missense_Mutation_p.R490W|LIMCH1_ENST00000512632.1_Missense_Mutation_p.R490W|LIMCH1_ENST00000396595.3_Missense_Mutation_p.R336W|LIMCH1_ENST00000508501.1_Missense_Mutation_p.R490W|LIMCH1_ENST00000509277.1_Missense_Mutation_p.R324W|LIMCH1_ENST00000381753.4_Missense_Mutation_p.R324W|LIMCH1_ENST00000511496.1_Missense_Mutation_p.R331W	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	490					actomyosin structure organization		actin binding|zinc ion binding	p.R875W(1)|p.R490W(1)		central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						GAAATACCTGCGGCAACAGTC	0.498													10	408					0	0	0.010729	0	0	T	41648713	C	T	41648713	3	4	35	1	0	0	0	0	1	0	0	0	8837	759	27	1	1542	1	LIMCH1	4	41648713	Missense_Mutation	SNP	C	TCGA-EJ-5496-01A-01D-1576-08	33232103	41648713	149505563	12	1943											
LPHN3	23284	broad.mit.edu	37	chr4	62813888	62813888	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgtacaatgacaggttattGgtcaacacaaggctgtcggc	11	9	12	9	2	1	1	1	1	0	0	2	1	1	1	0	4	2	3	0	4	5	3			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr4:62813888G>T	ENST00000512091.1	+	16	3242	c.2495G>T	c.(2494-2496)tGg>tTg	p.W832L	LPHN3_ENST00000509896.1_Missense_Mutation_p.W900L|LPHN3_ENST00000504896.1_Missense_Mutation_p.W832L|LPHN3_ENST00000511324.1_Missense_Mutation_p.W900L|LPHN3_ENST00000506700.1_Missense_Mutation_p.W832L|LPHN3_ENST00000506720.1_Missense_Mutation_p.W900L|LPHN3_ENST00000545650.1_Missense_Mutation_p.W832L|LPHN3_ENST00000514591.1_Missense_Mutation_p.W832L|LPHN3_ENST00000514996.1_Missense_Mutation_p.W832L|LPHN3_ENST00000507625.1_Missense_Mutation_p.W900L|LPHN3_ENST00000508946.1_Missense_Mutation_p.W832L|LPHN3_ENST00000507164.1_Missense_Mutation_p.W900L|LPHN3_ENST00000514157.1_Missense_Mutation_p.W832L|LPHN3_ENST00000508693.1_Missense_Mutation_p.W900L|LPHN3_ENST00000506746.1_Missense_Mutation_p.W900L			Q9HAR2	LPHN3_HUMAN	latrophilin 3	819	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	p.W832L(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ACAGGTTATTGGTCAACACAA	0.403													14	57					9.05144e-12	1.06488e-11	0.016723	1	0	T	62813888	G	T	62813888	3	4	35	1	0	0	0	0	1	0	0	0	8962	1357	47	4	2549	4	LPHN3	4	62813888	Missense_Mutation	SNP	G	TCGA-EJ-5496-01A-01D-1576-08	21165175	62813888	128340388	13	1944											
SULT1E1	6783	broad.mit.edu	37	chr4	70721017	70721017	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttaaaatcaacttgaacgttAccattcatgaggttttcttt	12	17	5	7	1	3	2	2	2	1	0	3	2	3	2	1	1	3	2	1	1	5	7			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr4:70721017A>T	ENST00000226444.3	-	3	384		c.e3+1			NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN	sulfotransferase family 1E, estrogen-preferring, member 1						3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity	p.?(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						CTTGAACGTTACCATTCATGA	0.318													10	74					0	0	0.006214	0	0	T	70721017	A	T	70721017	5	4	35	1	0	0	0	0	0	0	1	0	15436	405	14	5	635	5	SULT1E1	4	70721017	Splice_Site	SNP	A	TCGA-EJ-5496-01A-01D-1576-08	7907129	70721017	120433259	14	1945											
KIAA1109	84162	broad.mit.edu	37	chr4	123192755	123192755	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactctgattcaattacagtGtcagaacaaagtgagccttc	13	11	8	9	0	3	3	2	2	1	1	4	4	3	3	1	0	3	0	1	0	4	3			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr4:123192755G>A	ENST00000264501.4	+	47	8449	c.8076G>A	c.(8074-8076)gtG>gtA	p.V2692V	KIAA1109_ENST00000388738.3_Silent_p.V2692V|KIAA1109_ENST00000455637.1_Silent_p.V2692V			Q2LD37	K1109_HUMAN	KIAA1109	2692					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		p.V2692V(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CAATTACAGTGTCAGAACAAA	0.373													5	89					0	0	0.014758	0	0	A	123192755	G	A	123192755	2	1	35	1	0	0	0	0	0	0	0	1	8250	1364	48	2		2	KIAA1109	4	123192755	Silent	SNP	G	TCGA-EJ-5496-01A-01D-1576-08	52471738	123192755	67961521	15	1946											
MFAP3L	9848	broad.mit.edu	37	chr4	170913387	170913387	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagatgttagaagccacacaCgtgtatttacctcggtctga	11	12	9	9	2	1	3	0	1	1	2	2	3	1	3	2	1	2	2	2	1	5	5	rs141578578		TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr4:170913387C>T	ENST00000361618.3	-	3	679	c.372G>A	c.(370-372)acG>acA	p.T124T	RP11-6E9.4_ENST00000508955.1_RNA|MFAP3L_ENST00000393704.3_Silent_p.T21T	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like	124	Ig-like C2-type.					integral to membrane|plasma membrane		p.T124T(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		AAGCCACACACGTGTATTTAC	0.512													7	268					0	0	0.001984	0	0	T	170913387	C	T	170913387	2	4	35	1	0	0	0	0	0	0	0	1	9566	523	19	1		1	MFAP3L	4	170913387	Silent	SNP	C	TCGA-EJ-5496-01A-01D-1576-08	47720632	170913387	20240889	16	1947											
ASB5	140458	broad.mit.edu	37	chr4	177190130	177190130	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccttgcggttgcctttcaCtatgtagaaatgactgagga	9	14	10	8	1	1	3	1	2	0	1	2	4	2	4	2	2	2	2	2	2	3	6			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr4:177190130C>G	ENST00000296525.3	-	1	243	c.130G>C	c.(130-132)Gtg>Ctg	p.V44L		NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	44					intracellular signal transduction			p.V44L(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		TTGCCTTTCACTATGTAGAAA	0.393													7	128					0	0	0.001984	0	0	G	177190130	C	G	177190130	3	3	35	1	0	0	0	0	1	0	0	0	1025	565	20	4	887	4	ASB5	4	177190130	Missense_Mutation	SNP	C	TCGA-EJ-5496-01A-01D-1576-08	6276743	177190130	13964146	17	1948											
IRX1	79192	broad.mit.edu	37	chr5	3599606	3599606	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacctggttcgccaacgcgCgccggcgcctcaagaaggag	8	4	13	16	6	1	1	1	0	0	1	2	2	1	2	5	3	1	1	5	3	3	1			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr5:3599606C>T	ENST00000302006.3	+	2	596	c.544C>T	c.(544-546)Cgc>Tgc	p.R182C	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	182						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R182C(1)		biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CGCCAACGCGCGCCGGCGCCT	0.632													22	124					0	0	0.021523	0	0	T	3599606	C	T	3599606	3	4	35	1	0	0	0	0	1	0	0	0	7887	768	27	1	550	1	IRX1	5	3599606	Missense_Mutation	SNP	C	TCGA-EJ-5496-01A-01D-1576-08		3599606	177315654	18	1949											
FAM169A	26049	broad.mit.edu	37	chr5	74091853	74091853	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgctgaataagtgatctcatAccttttcaccatcttgcttc	9	16	5	11	0	3	2	2	2	2	0	5	2	3	2	2	0	3	2	2	0	3	6			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr5:74091853A>G	ENST00000389156.4	-	11	1351		c.e11+1		FAM169A_ENST00000380515.3_Splice_Site|FAM169A_ENST00000510496.1_Splice_Site	NM_015566.2	NP_056381.1	Q9Y6X4	F169A_HUMAN	family with sequence similarity 169, member A									p.?(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						GTGATCTCATACCTTTTCACC	0.368													5	371					0	0	0.001984	0	0	G	74091853	A	G	74091853	5	3	35	1	0	0	0	0	0	0	1	0	5517	405	14	3	762	3	FAM169A	5	74091853	Splice_Site	SNP	A	TCGA-EJ-5496-01A-01D-1576-08	70492247	74091853	106823407	19	1950											
TRIM36	55521	broad.mit.edu	37	chr5	114466559	114466559	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgttcattattatagccaCatttttcatcaaagaggaag	13	14	8	6	0	3	1	3	0	0	1	3	2	3	2	1	2	1	1	1	2	5	6			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr5:114466559C>T	ENST00000513154.1	-	9	1852	c.1526G>A	c.(1525-1527)tGt>tAt	p.C509Y	TRIM36_ENST00000282369.3_Missense_Mutation_p.C521Y|TRIM36_ENST00000514154.1_Missense_Mutation_p.C366Y			Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	521	B30.2/SPRY.					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding	p.C521Y(2)		breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		ATTATAGCCACATTTTTCATC	0.368													25	119					0	0	0.004656	0	0	T	114466559	C	T	114466559	3	4	35	1	0	0	0	0	1	0	0	0	16571	478	17	2	632	2	TRIM36	5	114466559	Missense_Mutation	SNP	C	TCGA-EJ-5496-01A-01D-1576-08	40374706	114466559	66448701	20	1951											
C5orf48	389320	broad.mit.edu	37	chr5	125967461	125967461	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agatacttgtcctactttgcCtaaactcactaacaactgct	12	13	4	12	0	1	1	1	0	0	1	2	1	2	1	2	0	7	1	2	0	6	6			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr5:125967461C>G	ENST00000357147.3	+	1	48	c.35C>G	c.(34-36)cCt>cGt	p.P12R		NM_207408.1	NP_997291.1	Q6ZNM6	CE048_HUMAN	chromosome 5 open reading frame 48	12								p.P12R(1)		large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	7						CCTACTTTGCCTAAACTCACT	0.378													5	170					0	0	0.014758	0	0	G	125967461	C	G	125967461	3	3	35	1	0	0	0	0	1	0	0	0	2321	681	24	4	37	4	C5orf48	5	125967461	Missense_Mutation	SNP	C	TCGA-EJ-5496-01A-01D-1576-08	11500902	125967461	54947799	21	1952											
RAPGEF6	51735	broad.mit.edu	37	chr5	130766663	130766663	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtgctctccaatactctctGtttaactgtcccatagtttg	7	16	7	11	0	2	0	0	0	2	0	5	0	3	0	2	1	3	3	2	1	4	5			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr5:130766663G>A	ENST00000509018.1	-	26	4559	c.4354C>T	c.(4354-4356)Cag>Tag	p.Q1452*	RAPGEF6_ENST00000307984.5_Nonsense_Mutation_p.Q1465*|RAPGEF6_ENST00000296859.6_Nonsense_Mutation_p.Q1460*|FNIP1_ENST00000514667.1_Nonsense_Mutation_p.Q1502*|RAPGEF6_ENST00000507093.1_Nonsense_Mutation_p.Q1460*	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1452			Q -> R (in dbSNP:rs1291602).		Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding	p.Q1452*(1)|p.Q1465*(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		AATACTCTCTGTTTAACTGTC	0.463													73	268					0	0	0.01441	0	0	A	130766663	G	A	130766663	4	1	35	1	0	0	0	0	0	1	0	0	13100	1386	48	2	463	2	RAPGEF6	5	130766663	Nonsense_Mutation	SNP	G	TCGA-EJ-5496-01A-01D-1576-08	4799202	130766663	50148597	22	1953											
PDE6A	5145	broad.mit.edu	37	chr5	149247706	149247706	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggctgagagatcacaggcGgtcatcatcatggccctggg	9	8	14	10	1	4	2	4	1	0	1	4	3	4	2	1	5	0	1	1	5	0	0			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr5:149247706G>A	ENST00000255266.5	-	18	2270	c.2151C>T	c.(2149-2151)acC>acT	p.T717T		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	717					cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	p.T717T(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GATCACAGGCGGTCATCATCA	0.547													6	218					0	0	0.001168	0	0	A	149247706	G	A	149247706	2	1	35	1	0	0	0	0	0	0	0	1	11692	1103	39	1		1	PDE6A	5	149247706	Silent	SNP	G	TCGA-EJ-5496-01A-01D-1576-08	18481043	149247706	31667554	23	1954											
NSD1	64324	broad.mit.edu	37	chr5	176636871	176636871	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aacattctgcagatgagaagGaaaagccttgcgctaaatct	15	9	9	8	1	2	2	0	1	2	2	2	4	2	3	1	1	4	2	1	1	6	3			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr5:176636871G>A	ENST00000439151.2	+	5	1516	c.1471G>A	c.(1471-1473)Gaa>Aaa	p.E491K	NSD1_ENST00000354179.4_Missense_Mutation_p.E222K|NSD1_ENST00000347982.4_Missense_Mutation_p.E222K|NSD1_ENST00000361032.4_Missense_Mutation_p.E388K	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	491					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	p.E491K(3)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AGATGAGAAGGAAAAGCCTTG	0.408			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			29	115					0	0	0.007291	0	0	A	176636871	G	A	176636871	3	1	35	1	0	0	0	0	1	0	0	0	10717	1175	41	2	1485	2	NSD1	5	176636871	Missense_Mutation	SNP	G	TCGA-EJ-5496-01A-01D-1576-08	27389165	176636871	4278389	24	1955											
HIST1H1A	3024	broad.mit.edu	37	chr6	26017716	26017716	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttaatgcccagcttaatgCggctgttgttcttctccacg	6	15	8	12	2	3	0	0	0	3	0	4	0	3	0	2	1	3	4	2	1	2	5			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr6:26017716C>T	ENST00000244573.3	-	1	324	c.245G>A	c.(244-246)cGc>cAc	p.R82H		NM_005325.3	NP_005316.1	Q02539	H11_HUMAN	histone cluster 1, H1a	82	H15.				nucleosome assembly|spermatogenesis	nucleosome|nucleus	DNA binding	p.R82H(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|ovary(3)|prostate(1)	13						CAGCTTAATGCGGCTGTTGTT	0.572													6	83					0	0	0.001984	0	0	T	26017716	C	T	26017716	3	4	35	1	0	0	0	0	1	0	0	0	7163	768	27	1	406	1	HIST1H1A	6	26017716	Missense_Mutation	SNP	C	TCGA-EJ-5496-01A-01D-1576-08		26017716	145097351	25	1956											
MAN1A1	4121	broad.mit.edu	37	chr6	119510998	119510998	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggccccctttccactctgcGatataagttagtccgctgct	7	12	8	14	2	1	0	0	0	1	0	3	1	3	0	4	1	2	3	4	1	3	4			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr6:119510998G>A	ENST00000368468.3	-	10	1818	c.1377C>T	c.(1375-1377)atC>atT	p.I459I		NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	459					post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	p.I459I(2)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		TCCACTCTGCGATATAAGTTA	0.498													29	86					0	0	0.010818	0	0	A	119510998	G	A	119510998	2	1	35	1	0	0	0	0	0	0	0	1	9260	1048	37	1		1	MAN1A1	6	119510998	Silent	SNP	G	TCGA-EJ-5496-01A-01D-1576-08	93493282	119510998	51604069	26	1957											
MYCT1	80177	broad.mit.edu	37	chr6	153043291	153043291	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttcccacagtctgagccGtcctgactactggtccagta	8	10	8	15	1	1	2	0	2	1	0	4	2	4	2	4	1	2	1	4	1	2	3			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr6:153043291G>A	ENST00000367245.5	+	2	619	c.611G>A	c.(610-612)cGt>cAt	p.R204H	MYCT1_ENST00000529453.1_Intron	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	204						nucleus		p.R204H(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		AGTCTGAGCCGTCCTGACTAC	0.532													25	139					0	0	0.021523	0	0	A	153043291	G	A	153043291	3	1	35	1	0	0	0	0	1	0	0	0	10070	1145	40	1	617	1	MYCT1	6	153043291	Missense_Mutation	SNP	G	TCGA-EJ-5496-01A-01D-1576-08	33532293	153043291	18071776	27	1958											
ZNRF2	223082	broad.mit.edu	37	chr7	30402036	30402036	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taaatagatcttgccctgagCacccttcagattaagcgtca	12	11	7	11	1	3	3	2	1	1	2	3	3	3	3	2	0	3	1	2	0	4	5			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr7:30402036C>A	ENST00000323037.4	+	4	1766	c.715C>A	c.(715-717)Cac>Aac	p.H239N		NM_147128.3	NP_667339.1	Q8NHG8	ZNRF2_HUMAN	zinc and ring finger 2	239						cell junction|endosome membrane|lysosomal membrane|presynaptic membrane	ligase activity|zinc ion binding	p.H239N(1)		breast(1)|endometrium(1)|lung(2)|prostate(1)	5						TTGCCCTGAGCACCCTTCAGA	0.294													19	106					8.34094e-07	9.67065e-07	0.008871	1	0	A	30402036	C	A	30402036	3	1	35	1	0	0	0	0	1	0	0	0	18254	710	25	4	729	4	ZNRF2	7	30402036	Missense_Mutation	SNP	C	TCGA-EJ-5496-01A-01D-1576-08		30402036	128736627	28	1959											
POT1	25913	broad.mit.edu	37	chr7	124537227	124537227	+	Translation_Start_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atatcatcttaccaaagacaTtgattctgtagaaaaatctc	16	13	4	8	0	4	3	1	1	3	2	5	3	4	3	1	0	1	1	1	0	6	5			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr7:124537227T>C	ENST00000357628.3	-	5	599	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	POT1_ENST00000393329.1_5'UTR	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	1					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity	p.M1V(2)|p.M1L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						ACCAAAGACATTGATTCTGTA	0.303													22	95					0	0	0.014323	0	0	C	124537227	T	C	124537227	1	2	35	1	0	0	0	0	0	0	0	0	12308	1493	52	3		3	POT1	7	124537227	Translation_Start_Site	SNP	T	TCGA-EJ-5496-01A-01D-1576-08	94135191	124537227	34601436	29	1960											
CSMD1	64478	broad.mit.edu	37	chr8	2830734	2830734	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccccatttcacaggagaagCggagaagactctttgtctta	11	10	10	10	1	3	3	1	0	2	3	3	5	3	3	2	2	1	0	2	2	3	3			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr8:2830734C>T	ENST00000602557.1	-	58	9386	c.8831G>A	c.(8830-8832)cGc>cAc	p.R2944H	CSMD1_ENST00000602723.1_Missense_Mutation_p.R2886H|CSMD1_ENST00000542608.1_Missense_Mutation_p.R2885H|CSMD1_ENST00000537824.1_Missense_Mutation_p.R2943H|CSMD1_ENST00000520002.1_Missense_Mutation_p.R2944H|CSMD1_ENST00000400186.3_Missense_Mutation_p.R2886H			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2944	Sushi 22.					integral to membrane		p.R2943H(1)|p.R2672H(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACAGGAGAAGCGGAGAAGACT	0.537													55	186					0	0	0.01441	0	0	T	2830734	C	T	2830734	3	4	35	1	0	0	0	0	1	0	0	0	3969	768	27	1	1922	1	CSMD1	8	2830734	Missense_Mutation	SNP	C	TCGA-EJ-5496-01A-01D-1576-08		2830734	143533288	30	1961											
RP1	6101	broad.mit.edu	37	chr8	55538481	55538481	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaaaaatctcgacagcaagCaataaattccaggtatcaag	19	7	7	8	1	2	0	1	0	1	0	4	2	3	0	1	1	2	3	1	1	9	3			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr8:55538481C>T	ENST00000220676.1	+	4	2187	c.2039C>T	c.(2038-2040)gCa>gTa	p.A680V		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	680					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.A680V(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CGACAGCAAGCAATAAATTCC	0.323													5	69					0	0	0.001168	0	0	T	55538481	C	T	55538481	3	4	35	1	0	0	0	0	1	0	0	0	13584	710	25	2	2049	2	RP1	8	55538481	Missense_Mutation	SNP	C	TCGA-EJ-5496-01A-01D-1576-08	52707747	55538481	90825541	31	1962											
PAX5	5079	broad.mit.edu	37	chr9	36923352	36923352	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catgccccaggtgccctcacCtgtcacaatggggtaggact	8	8	11	14	0	2	0	2	0	0	0	2	1	2	1	4	4	2	1	4	4	2	1			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr9:36923352C>A	ENST00000358127.4	-	7	984	c.910_splice	c.e7+1	p.G304_splice	PAX5_ENST00000523241.1_Intron|PAX5_ENST00000377847.2_Splice_Site_p.G304_splice|PAX5_ENST00000523145.1_Splice_Site_p.G196_splice|PAX5_ENST00000520281.1_Splice_Site_p.G261_splice|PAX5_ENST00000414447.1_Splice_Site_p.G261_splice|PAX5_ENST00000520154.1_Intron|PAX5_ENST00000446742.1_Splice_Site_p.G238_splice|PAX5_ENST00000522003.1_Splice_Site_p.G196_splice|PAX5_ENST00000377853.2_Splice_Site_p.G304_splice|PAX5_ENST00000377852.2_Splice_Site_p.G304_splice	NM_016734.1	NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	304		Breakpoint for translocation to form PAX5-ZNF521.			cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(23)|p.G304C(1)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		GTGCCCTCACCTGTCACAATG	0.607			"T, Mis, D, F, S"	"IGH@, ETV6, PML, FOXP1, ZNF521, ELN"	"NHL, ALL, B-ALL"								40	131					3.54561e-26	4.23356e-26	0.009718	1	0	A	36923352	C	A	36923352	5	1	35	1	0	0	0	0	0	0	1	0	11529	695	24	4	281	4	PAX5	9	36923352	Splice_Site	SNP	C	TCGA-EJ-5496-01A-01D-1576-08		36923352	104290079	32	1963											
ZFAND5	0	broad.mit.edu	37	chr9	74970894	74970894	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctctgaattttttcagccAcaacaactggattctctttt	9	18	4	10	0	3	1	1	1	2	0	5	2	3	2	1	1	3	0	1	1	3	7			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr9:74970894A>C	ENST00000237937.3	-	6	1174	c.617T>G	c.(616-618)gTg>gGg	p.V206G	ZFAND5_ENST00000488164.1_5'UTR|ZFAND5_ENST00000343431.2_Missense_Mutation_p.V206G|ZFAND5_ENST00000376960.4_Missense_Mutation_p.V206G|ZFAND5_ENST00000376962.5_Missense_Mutation_p.V206G	NM_001102421.1|NM_001278243.1|NM_001278244.1|NM_001278245.1|NM_006007.2	NP_001095891.1|NP_001265172.1|NP_001265173.1|NP_001265174.1|NP_005998.1	O76080	ZFAN5_HUMAN	zinc finger, AN1-type domain 5	206							DNA binding|zinc ion binding	p.V206G(1)		cervix(1)|kidney(2)|lung(2)|prostate(1)	6						TTTTTCAGCCACAACAACTGG	0.343													19	104					0	0	0.012319	0	0	C	74970894	A	C	74970894	3	2	35	1	0	0	0	0	1	0	0	0	17688	159	6	5	28	5	ZFAND5	9	74970894	Missense_Mutation	SNP	A	TCGA-EJ-5496-01A-01D-1576-08	38047542	74970894	66242537	33	1964											
HKDC1	80201	broad.mit.edu	37	chr10	71007216	71007216	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagcatgtctgtaccatcGtctccttccgctcggccaat	6	12	7	16	3	2	0	0	0	2	0	7	0	4	0	5	1	2	3	5	1	2	2			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr10:71007216G>A	ENST00000354624.5	+	9	1265	c.1132G>A	c.(1132-1134)Gtc>Atc	p.V378I	HKDC1_ENST00000395086.2_Missense_Mutation_p.V378I	NM_025130.3	NP_079406.3	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	378					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity	p.V378I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CTGTACCATCGTCTCCTTCCG	0.582													13	90					0	0	0.016723	0	0	A	71007216	G	A	71007216	3	1	35	1	0	0	0	0	1	0	0	0	7234	1145	40	1	1166	1	HKDC1	10	71007216	Missense_Mutation	SNP	G	TCGA-EJ-5496-01A-01D-1576-08		71007216	64527531	34	1965											
TM7SF2	7108	broad.mit.edu	37	chr11	64880871	64880871	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccccagtttcggccctggcaCctggggggaactcaggtgag	6	7	15	13	1	1	1	1	1	0	0	2	2	1	2	4	6	1	2	4	6	1	1			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr11:64880871C>T	ENST00000279263.7	+	4	646	c.484C>T	c.(484-486)Cct>Tct	p.P162S	TM7SF2_ENST00000540748.1_Missense_Mutation_p.P46S|TM7SF2_ENST00000345348.5_Missense_Mutation_p.P162S|TM7SF2_ENST00000531029.1_3'UTR	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	162					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity	p.P162S(1)		lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GGCCCTGGCACCTGGGGGGAA	0.587											OREG0021072	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	55	170					0	0	0.01441	0	0	T	64880871	C	T	64880871	3	4	35	1	0	0	0	0	1	0	0	0	16034	507	18	2	498	2	TM7SF2	11	64880871	Missense_Mutation	SNP	C	TCGA-EJ-5496-01A-01D-1576-08		64880871	70125645	35	1966											
LRP6	4040	broad.mit.edu	37	chr12	12302059	12302059	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtatttccaggttctgactcGgaactgagctcacaaccaca	11	10	8	12	1	2	2	1	2	1	0	4	3	3	3	2	2	3	3	2	2	3	3			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr12:12302059G>A	ENST00000261349.4	-	14	3099	c.3023C>T	c.(3022-3024)cCg>cTg	p.P1008L	LRP6_ENST00000543091.1_Missense_Mutation_p.P1008L	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1008	Beta-propeller 4.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	p.P1008L(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GTTCTGACTCGGAACTGAGCT	0.433													11	390					0	0	0.008291	0	0	A	12302059	G	A	12302059	3	1	35	1	0	0	0	0	1	0	0	0	9007	1116	39	1	1858	1	LRP6	12	12302059	Missense_Mutation	SNP	G	TCGA-EJ-5496-01A-01D-1576-08		12302059	121549836	36	1967											
ATF7IP	55729	broad.mit.edu	37	chr12	14649241	14649241	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgggatcaacaggacctcaGctcacagtgcatcaccgacc	11	6	9	15	1	4	0	4	0	0	0	4	3	4	2	3	2	3	2	3	2	1	0			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr12:14649241G>C	ENST00000544627.1	+	14	3701	c.3381G>C	c.(3379-3381)caG>caC	p.Q1127H	ATF7IP_ENST00000536444.1_Missense_Mutation_p.Q1118H|ATF7IP_ENST00000540793.1_Missense_Mutation_p.Q1119H|ATF7IP_ENST00000261168.4_Missense_Mutation_p.Q1119H			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	1119					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding	p.Q1119H(1)		cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						CAGGACCTCAGCTCACAGTGC	0.383													19	59					0	0	0.008871	0	0	C	14649241	G	C	14649241	3	2	35	1	0	0	0	0	1	0	0	0	1086	962	34	4	3407	4	ATF7IP	12	14649241	Missense_Mutation	SNP	G	TCGA-EJ-5496-01A-01D-1576-08	2347182	14649241	119202654	37	1968											
MGAT4C	25834	broad.mit.edu	37	chr12	86373542	86373542	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catccttcagcttattctccGtccctttgtatgatgaataa	9	16	5	11	1	2	2	1	2	1	0	5	2	4	2	3	0	1	2	3	0	4	6	rs145801611	byFrequency	TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr12:86373542G>A	ENST00000604798.1	-	8	2166	c.962C>T	c.(961-963)aCg>aTg	p.T321M	MGAT4C_ENST00000393205.2_Missense_Mutation_p.T350M|MGAT4C_ENST00000548651.1_Missense_Mutation_p.T321M|MGAT4C_ENST00000552808.2_Missense_Mutation_p.T321M|MGAT4C_ENST00000552435.2_Silent_p.D109D|MGAT4C_ENST00000332156.1_Missense_Mutation_p.T321M|MGAT4C_ENST00000549405.2_Missense_Mutation_p.T321M			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	321					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	p.T321M(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CTTATTCTCCGTCCCTTTGTA	0.403													8	162					0	0	0.00308	0	0	A	86373542	G	A	86373542	3	1	35	1	0	0	0	0	1	0	0	0	9597	1145	40	1	478	1	MGAT4C	12	86373542	Missense_Mutation	SNP	G	TCGA-EJ-5496-01A-01D-1576-08	71724301	86373542	47478353	38	1969											
APAF1	317	broad.mit.edu	37	chr12	99043447	99043447	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgcagaagctgttagagatCattcccttttagaaggtaag	12	12	10	7	0	1	3	1	0	0	3	2	4	2	3	1	1	2	4	1	1	5	5			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr12:99043447C>T	ENST00000357310.1	+	4	1088	c.511C>T	c.(511-513)Cat>Tat	p.H171Y	APAF1_ENST00000552268.1_Missense_Mutation_p.H171Y|APAF1_ENST00000551964.1_Missense_Mutation_p.H171Y|APAF1_ENST00000549007.1_Missense_Mutation_p.H171Y|APAF1_ENST00000547045.1_Missense_Mutation_p.H171Y|APAF1_ENST00000359972.2_Missense_Mutation_p.H160Y|APAF1_ENST00000339433.3_Missense_Mutation_p.H171Y|APAF1_ENST00000550527.1_Missense_Mutation_p.H160Y|APAF1_ENST00000333991.1_Missense_Mutation_p.H171Y	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	171	NB-ARC.				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding	p.H171Y(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	TGTTAGAGATCATTCCCTTTT	0.383													5	58					0	0	0.014758	0	0	T	99043447	C	T	99043447	3	4	35	1	0	0	0	0	1	0	0	0	751	826	29	2	521	2	APAF1	12	99043447	Missense_Mutation	SNP	C	TCGA-EJ-5496-01A-01D-1576-08	12669905	99043447	34808448	39	1970											
TUBA3C	7278	broad.mit.edu	37	chr13	19748209	19748209	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agcccaggcctccgcgatggCcgtggtgttgctcagcatgc	5	8	14	14	3	1	0	1	0	0	0	2	1	2	0	4	3	4	3	4	3	0	1			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr13:19748209C>T	ENST00000400113.3	-	5	1251	c.1147G>A	c.(1147-1149)Gcc>Acc	p.A383T		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	383					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.A383T(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TCCGCGATGGCCGTGGTGTTG	0.637													42	85					0	0	0.00874	0	0	T	19748209	C	T	19748209	3	4	35	1	0	0	0	0	1	0	0	0	16808	739	26	2	209	2	TUBA3C	13	19748209	Missense_Mutation	SNP	C	TCGA-EJ-5496-01A-01D-1576-08		19748209	95421669	40	1971											
FAM155A	728215	broad.mit.edu	37	chr13	107863055	107863055	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aattgtctttctgcagttaaActgtgtgacttcaaaatact	12	16	6	7	0	3	1	1	1	2	0	3	1	3	1	0	0	3	2	0	0	6	5			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr13:107863055A>G	ENST00000375915.2	-	2	1102	c.964T>C	c.(964-966)Ttt>Ctt	p.F322L		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	322						integral to membrane	binding	p.F322L(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CTGCAGTTAAACTGTGTGACT	0.408											OREG0022506	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	102					0	0	0.01892	0	0	G	107863055	A	G	107863055	3	3	35	1	0	0	0	0	1	0	0	0	5495	43	2	3	420	3	FAM155A	13	107863055	Missense_Mutation	SNP	A	TCGA-EJ-5496-01A-01D-1576-08	88114846	107863055	7306823	41	1972											
SIPA1L1	26037	broad.mit.edu	37	chr14	72152099	72152099	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagttgctctgaaacctaccGcatgccagtgatggagtaca	11	9	11	10	1	1	2	0	2	1	0	1	4	1	3	3	1	5	4	3	1	3	3	rs141106111	byFrequency	TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr14:72152099G>A	ENST00000555818.1	+	10	3473	c.3125G>A	c.(3124-3126)cGc>cAc	p.R1042H	SIPA1L1_ENST00000537413.1_Missense_Mutation_p.R517H|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.R1042H|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.R1042H	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1042	PDZ.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	p.R1042H(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GAAACCTACCGCATGCCAGTG	0.448													9	364					0	0	0.006214	0	0	A	72152099	G	A	72152099	3	1	35	1	0	0	0	0	1	0	0	0	14384	1087	38	1	3159	1	SIPA1L1	14	72152099	Missense_Mutation	SNP	G	TCGA-EJ-5496-01A-01D-1576-08		72152099	35197441	42	1973											
NIPA2	81614	broad.mit.edu	37	chr15	23006760	23006760	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattacagagcagattgttaTgtacacaagaatgtttgtct	13	14	9	5	0	1	3	0	0	1	3	1	4	1	3	0	0	3	4	0	0	5	5			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr15:23006760T>A	ENST00000337451.3	-	8	1156	c.544A>T	c.(544-546)Ata>Tta	p.I182L	NIPA2_ENST00000359727.4_Missense_Mutation_p.I163L|NIPA2_ENST00000539711.2_Missense_Mutation_p.I163L|NIPA2_ENST00000398014.2_Missense_Mutation_p.I182L|NIPA2_ENST00000398013.3_Missense_Mutation_p.I182L	NM_030922.6	NP_112184.4	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 2	182						early endosome|integral to membrane|plasma membrane		p.I163L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		CAGATTGTTATGTACACAAGA	0.502													3	74					0	0	0.004672	0	0	A	23006760	T	A	23006760	3	1	35	1	0	0	0	0	1	0	0	0	10470	1464	51	5	542	5	NIPA2	15	23006760	Missense_Mutation	SNP	T	TCGA-EJ-5496-01A-01D-1576-08		23006760	79524632	43	1974											
ACTC1	70	broad.mit.edu	37	chr15	35086889	35086889	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggaagtttacctggtgccGcgggcggcccacgatggacg	6	6	17	12	6	0	0	0	0	0	0	0	3	0	2	3	5	2	1	3	5	2	2			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr15:35086889G>A	ENST00000290378.4	-	2	776	c.121C>T	c.(121-123)Cgg>Tgg	p.R41W	RP11-814P5.1_ENST00000503496.1_RNA	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	41					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding	p.R41W(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		ACCTGGTGCCGCGGGCGGCCC	0.672													9	47					0	0	0.010729	0	0	A	35086889	G	A	35086889	3	1	35	1	0	0	0	0	1	0	0	0	195	1086	38	1	1036	1	ACTC1	15	35086889	Missense_Mutation	SNP	G	TCGA-EJ-5496-01A-01D-1576-08	12080129	35086889	67444503	44	1975											
CIB2	10518	broad.mit.edu	37	chr15	78403582	78403582	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcctgtagtccattgggacGaggttgggggccagctcata	7	11	14	9	1	1	0	1	0	0	0	3	2	3	1	3	4	1	3	3	4	2	5			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr15:78403582G>A	ENST00000258930.3	-	3	451	c.123C>T	c.(121-123)ctC>ctT	p.L41L	CIB2_ENST00000560618.1_5'UTR|CIB2_ENST00000557846.1_Intron|CIB2_ENST00000539011.1_5'UTR	NM_006383.2	NP_006374.1	O75838	CIB2_HUMAN	calcium and integrin binding family member 2	41							calcium ion binding	p.L41L(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						CCATTGGGACGAGGTTGGGGG	0.607													7	128					0	0	0.001984	0	0	A	78403582	G	A	78403582	2	1	35	1	0	0	0	0	0	0	0	1	3443	1045	37	1		1	CIB2	15	78403582	Silent	SNP	G	TCGA-EJ-5496-01A-01D-1576-08	43316693	78403582	24127810	45	1976											
IREB2	3658	broad.mit.edu	37	chr15	78777134	78777134	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcttccaaattgcagctgAaaaacaaaaggatattgtct	16	10	8	7	0	1	1	0	1	1	0	2	2	2	2	1	2	3	3	1	2	6	4			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr15:78777134A>G	ENST00000258886.8	+	12	1594	c.1445A>G	c.(1444-1446)gAa>gGa	p.E482G		NM_004136.2	NP_004127.1	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	482							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding	p.E482G(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		ATTGCAGCTGAAAAACAAAAG	0.333													3	139					0	0	0.004672	0	0	G	78777134	A	G	78777134	3	3	35	1	0	0	0	0	1	0	0	0	7870	246	9	3	1491	3	IREB2	15	78777134	Missense_Mutation	SNP	A	TCGA-EJ-5496-01A-01D-1576-08	373552	78777134	23754258	46	1977											
FANCI	55215	broad.mit.edu	37	chr15	89811688	89811688	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcatgtggaaggcaccattAttctacacattgtgtttgcc	9	14	9	9	0	2	0	1	0	1	0	2	1	2	1	2	2	2	2	2	2	3	5			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr15:89811688A>G	ENST00000310775.7	+	10	900	c.814A>G	c.(814-816)Att>Gtt	p.I272V	FANCI_ENST00000300027.8_Missense_Mutation_p.I272V	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	272					cell cycle|DNA repair	nucleoplasm	protein binding	p.I272V(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					AGGCACCATTATTCTACACAT	0.413								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				9	358					0	0	0.004482	0	0	G	89811688	A	G	89811688	3	3	35	1	0	0	0	0	1	0	0	0	5702	449	16	3	848	3	FANCI	15	89811688	Missense_Mutation	SNP	A	TCGA-EJ-5496-01A-01D-1576-08	11034554	89811688	12719704	47	1978											
PLCG2	5336	broad.mit.edu	37	chr16	81944188	81944188	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagggcgggaccctgaaataCtacttgactgacaacctcac	12	7	10	12	1	1	3	1	3	0	0	1	5	1	4	2	2	3	0	2	2	4	3			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr16:81944188C>T	ENST00000359376.3	+	18	2011	c.1797C>T	c.(1795-1797)taC>taT	p.Y599Y		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	599	SH2 1.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.Y599Y(3)		NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CCCTGAAATACTACTTGACTG	0.647													6	230					0	0	0.001168	0	0	T	81944188	C	T	81944188	2	4	35	1	0	0	0	0	0	0	0	1	12084	576	20	2		2	PLCG2	16	81944188	Silent	SNP	C	TCGA-EJ-5496-01A-01D-1576-08		81944188	8410565	48	1979											
NF1	4763	broad.mit.edu	37	chr17	29528486	29528486	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgctggtaaattcactcCatcgaatcatcaccaatgta	13	12	6	10	1	3	0	3	0	0	0	5	1	4	0	2	1	1	3	2	1	5	3			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr17:29528486C>T	ENST00000358273.4	+	11	1626	c.1243C>T	c.(1243-1245)Cat>Tat	p.H415Y	NF1_ENST00000431387.4_Missense_Mutation_p.H415Y|NF1_ENST00000356175.3_Missense_Mutation_p.H415Y	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	415					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(6)|p.H415Y(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AAATTCACTCCATCGAATCAT	0.303			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			5	286					0	0	0.001168	0	0	T	29528486	C	T	29528486	3	4	35	1	0	0	0	0	1	0	0	0	10403	594	21	2	1285	2	NF1	17	29528486	Missense_Mutation	SNP	C	TCGA-EJ-5496-01A-01D-1576-08		29528486	51666724	49	1980											
UBTF	7343	broad.mit.edu	37	chr17	42293127	42293127	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacttggcccgcttctccatGaagaagcggaaataaggggt	11	9	12	9	2	1	2	0	1	1	1	2	3	1	3	2	4	2	1	2	4	5	4			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr17:42293127G>A	ENST00000302904.4	-	5	861	c.369C>T	c.(367-369)ttC>ttT	p.F123F	UBTF_ENST00000436088.1_Silent_p.F123F|UBTF_ENST00000393606.3_Silent_p.F123F|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000527034.1_Silent_p.F123F|UBTF_ENST00000537550.1_5'UTR|UBTF_ENST00000343638.5_Silent_p.F123F|UBTF_ENST00000533177.1_Silent_p.F123F|UBTF_ENST00000526094.1_Silent_p.F123F|UBTF_ENST00000529383.1_Silent_p.F123F			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	123					positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding	p.F123F(1)|p.F123delF(1)		breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GCTTCTCCATGAAGAAGCGGA	0.493													51	138					0	0	0.01441	0	0	A	42293127	G	A	42293127	2	1	35	1	0	0	0	0	0	0	0	1	16970	1281	45	2		2	UBTF	17	42293127	Silent	SNP	G	TCGA-EJ-5496-01A-01D-1576-08	12764641	42293127	38902083	50	1981											
SLC16A6	9120	broad.mit.edu	37	chr17	66267452	66267452	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcaaaatggagaagtctaaTagcggggctttcttttcgct	10	14	10	7	2	3	1	1	0	2	1	4	2	3	1	0	3	1	2	0	3	5	6			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr17:66267452T>C	ENST00000327268.4	-	6	1013	c.849A>G	c.(847-849)ctA>ctG	p.L283L	ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Silent_p.L283L	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	283						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	p.L283L(1)		large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	AGAAGTCTAATAGCGGGGCTT	0.463													3	123					0	0	0.004672	0	0	C	66267452	T	C	66267452	2	2	35	1	0	0	0	0	0	0	0	1	14467	1393	49	3		3	SLC16A6	17	66267452	Silent	SNP	T	TCGA-EJ-5496-01A-01D-1576-08	23974325	66267452	14927758	51	1982											
WDR7	23335	broad.mit.edu	37	chr18	54603078	54603078	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggcccgctctgcgaggcatgCcctctcgctcattgccaccg	4	8	11	18	4	3	0	1	0	2	0	4	1	3	0	4	2	3	3	4	2	0	1			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr18:54603078C>T	ENST00000254442.3	+	23	3984	c.3773C>T	c.(3772-3774)gCc>gTc	p.A1258V	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.A1225V	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1258								p.A1258V(1)		NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GCGAGGCATGCCCTCTCGCTC	0.537													4	175					0	0	0.014758	0	0	T	54603078	C	T	54603078	3	4	35	1	0	0	0	0	1	0	0	0	17380	739	26	2	3859	2	WDR7	18	54603078	Missense_Mutation	SNP	C	TCGA-EJ-5496-01A-01D-1576-08		54603078	23474170	52	1983											
MUC16	94025	broad.mit.edu	37	chr19	9047100	9047100	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtggtgtctgacttactatGggaaaacttgggagttgtcc	8	14	13	6	0	1	1	0	1	1	0	2	3	2	3	1	3	2	1	1	3	4	4			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr19:9047100G>A	ENST00000397910.4	-	5	34734	c.34531C>T	c.(34531-34533)Cat>Tat	p.H11511Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11513	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.H11511Y(1)|p.H7144Y(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GACTTACTATGGGAAAACTTG	0.498													53	140					0	0	0.01441	0	0	A	9047100	G	A	9047100	3	1	35	1	0	0	0	0	1	0	0	0	10021	1348	47	2	9312	2	MUC16	19	9047100	Missense_Mutation	SNP	G	TCGA-EJ-5496-01A-01D-1576-08		9047100	50081883	53	1984											
CEACAM3	1084	broad.mit.edu	37	chr19	42312921	42312921	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggtcctggtcggagtggcGctggtggccgcgctggtgtg	1	9	22	9	4	0	0	0	0	0	0	2	1	1	1	2	8	0	2	2	8	0	0	rs61747599	byFrequency	TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr19:42312921G>A	ENST00000357396.3	+	3	736	c.495G>A	c.(493-495)gcG>gcA	p.A165A	CEACAM3_ENST00000344550.4_Silent_p.A165A|CEACAM3_ENST00000595255.1_3'UTR|CEACAM3_ENST00000221999.4_Silent_p.A165A	NM_001815.2	NP_001806.2	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 3	165						integral to membrane		p.A165A(1)		endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						TCGGAGTGGCGCTGGTGGCCG	0.607													72	282					0	0	0.01441	0	0	A	42312921	G	A	42312921	2	1	35	1	0	0	0	0	0	0	0	1	3215	1074	38	1		1	CEACAM3	19	42312921	Silent	SNP	G	TCGA-EJ-5496-01A-01D-1576-08	33265821	42312921	16816062	54	1985											
LRRC4B	94030	broad.mit.edu	37	chr19	51022077	51022077	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcgaggcggtgcaggggcGtgaagaggtcgtggggcagc	6	5	22	8	4	0	2	0	1	0	1	2	3	0	2	0	7	2	3	0	7	1	0			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr19:51022077G>A	ENST00000599957.1	-	3	1090	c.893C>T	c.(892-894)aCg>aTg	p.T298M	LRRC4B_ENST00000389201.3_Missense_Mutation_p.T298M			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	298						cell junction|integral to membrane|presynaptic membrane		p.T298M(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GTGCAGGGGCGTGAAGAGGTC	0.637													27	113					0	0	0.013726	0	0	A	51022077	G	A	51022077	3	1	35	1	0	0	0	0	1	0	0	0	9052	1145	40	1	1252	1	LRRC4B	19	51022077	Missense_Mutation	SNP	G	TCGA-EJ-5496-01A-01D-1576-08	8709156	51022077	8106906	55	1986											
ASXL1	171023	broad.mit.edu	37	chr20	31023728	31023728	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggtgtctcgagtatgtgcGgtccgccaaaagatcccaga	9	9	13	10	3	1	2	0	0	1	2	4	3	3	2	3	2	1	1	3	2	3	1			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr20:31023728G>A	ENST00000375687.4	+	13	3637	c.3213G>A	c.(3211-3213)gcG>gcA	p.A1071A	ASXL1_ENST00000306058.5_Silent_p.A1066A	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	1071					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	p.A1071A(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GAGTATGTGCGGTCCGCCAAA	0.567			"F, N, Mis"		"MDS, CMML"								52	137					0	0	0.01441	0	0	A	31023728	G	A	31023728	2	1	35	1	0	0	0	0	0	0	0	1	1065	1103	39	1		1	ASXL1	20	31023728	Silent	SNP	G	TCGA-EJ-5496-01A-01D-1576-08		31023728	32001792	56	1987											
SALL4	57167	broad.mit.edu	37	chr20	50401031	50401031	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attggtcttcacggccagacCgccattgagcatgctggtgt	7	11	12	11	2	2	2	1	1	1	1	2	2	2	2	3	3	2	2	3	3	0	3			TCGA-EJ-5496-01A-01D-1576-08	TCGA-EJ-5496-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea9dfa9-b503-4f82-9fed-5b88c43074f8	5d8deeb6-3e5f-422d-b7ff-d35db9198e0d	g.chr20:50401031C>T	ENST00000217086.4	-	4	3046	c.2935G>A	c.(2935-2937)Ggt>Agt	p.G979S	SALL4_ENST00000395997.3_Missense_Mutation_p.G542S|SALL4_ENST00000371539.3_Missense_Mutation_p.G202S	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	979					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G979S(1)		endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACGGCCAGACCGCCATTGAGC	0.547													25	160					0	0	0.016522	0	0	T	50401031	C	T	50401031	3	4	35	1	0	0	0	0	1	0	0	0	13865	652	23	1	230	1	SALL4	20	50401031	Missense_Mutation	SNP	C	TCGA-EJ-5496-01A-01D-1576-08	19377303	50401031	12624489	57	1988											
SRRM1	10250	broad.mit.edu	37	chr1	24998071	24998071	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaagagccagtggcagcGccagagccgaagaaggtatt	13	4	15	9	2	0	3	0	0	0	3	0	5	0	4	3	3	3	2	3	3	4	2			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr1:24998071G>A	ENST00000323848.9	+	16	2910	c.2595G>A	c.(2593-2595)gcG>gcA	p.A865A	SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000447431.2_Silent_p.A877A|SRRM1_ENST00000374389.4_Silent_p.A874A	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	865	Ala-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding	p.A865A(1)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CAGTGGCAGCGCCAGAGCCGA	0.483													7	60					0	0	0.361761	0	0	A	24998071	G	A	24998071	2	1	36	1	0	0	0	0	0	0	0	1	15224	1074	38	1		1	SRRM1	1	24998071	Silent	SNP	G	TCGA-EJ-5497-01A-02D-1576-08		24998071	224252550	1	1989											
LCE1F	353137	broad.mit.edu	37	chr1	152748962	152748962	+	Missense_Mutation	SNP	C	C	G																															agtgtccccctaagtgccctCctgtctcttcctgctgcagc																								rs116630978	by1000genomes	TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr1:152748962C>G	ENST00000334371.2	+	1	115	c.115C>G	c.(115-117)Cct>Gct	p.P39A		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	39	Pro-rich.				keratinization			p.P39A(1)		kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			taagtgccctccTGTCTCTTC	0.677													14	84					0	0	0.479597	0	0	G	152748962	C	G	152748962	3	3	36	1	0	0	0	0	1	0	0	0	8703	855	30	4	117	4	LCE1F	1	152748962	Missense_Mutation	SNP	C	TCGA-EJ-5497-01A-02D-1576-08	127750891	152748962	96501659	2	1990	12	2									
LCE1F	353137	broad.mit.edu	37	chr1	152748963	152748963	+	Missense_Mutation	SNP	C	C	T																															gtgtccccctaagtgccctcCtgtctcttcctgctgcagcg																										TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr1:152748963C>T	ENST00000334371.2	+	1	116	c.116C>T	c.(115-117)cCt>cTt	p.P39L		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	39	Pro-rich.				keratinization			p.P39L(1)		kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			aagtgccctccTGTCTCTTCC	0.672													13	84					0	0	0.457914	0	0	T	152748963	C	T	152748963	3	4	36	1	0	0	0	0	1	0	0	0	8703	681	24	2	118	2	LCE1F	1	152748963	Missense_Mutation	SNP	C	TCGA-EJ-5497-01A-02D-1576-08	1	152748963	96501658	3	1991	12	2									
ASPM	259266	broad.mit.edu	37	chr1	197073334	197073334	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacagttgactgcaattttaTtgtagcattttttaggctca	11	17	7	6	0	1	1	1	1	0	0	1	1	1	1	0	1	3	5	0	1	5	8			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr1:197073334T>C	ENST00000367409.4	-	18	5303	c.5047A>G	c.(5047-5049)Ata>Gta	p.I1683V	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1683	IQ 5.				mitosis	cytoplasm|nucleus	calmodulin binding	p.I1683V(1)|p.I1683fs*7(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TGCAATTTTATTGTAGCATTT	0.303													4	125					0	0	0.150653	0	0	C	197073334	T	C	197073334	3	2	36	1	0	0	0	0	1	0	0	0	1055	1493	52	3	5430	3	ASPM	1	197073334	Missense_Mutation	SNP	T	TCGA-EJ-5497-01A-02D-1576-08	44324371	197073334	52177287	4	1992											
CCDC142	84865	broad.mit.edu	37	chr2	74708964	74708964	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgacccagtgcctgactcAgctgttgcgctgttgccctg	4	11	11	15	1	1	2	1	2	0	0	1	2	1	2	4	0	4	4	4	0	0	2			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr2:74708964A>T	ENST00000393965.3	-	1	1397	c.1001T>A	c.(1000-1002)cTg>cAg	p.L334Q	CCDC142_ENST00000471713.1_5'UTR|CCDC142_ENST00000290418.4_Missense_Mutation_p.L334Q	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	334								p.L334Q(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						TGCCTGACTCAGCTGTTGCGC	0.612													8	111					0	0	0.27861	0	0	T	74708964	A	T	74708964	3	4	36	1	0	0	0	0	1	0	0	0	2794	188	7	5	1266	5	CCDC142	2	74708964	Missense_Mutation	SNP	A	TCGA-EJ-5497-01A-02D-1576-08		74708964	168490409	5	1993											
AFF3	3899	broad.mit.edu	37	chr2	100199303	100199303	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagctggctgtcggccttaGgctttttgctggaagaggct	5	12	15	9	1	0	1	0	0	0	1	1	2	0	2	1	5	2	6	1	5	2	3			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr2:100199303G>C	ENST00000317233.4	-	16	2985	c.2750C>G	c.(2749-2751)cCt>cGt	p.P917R	AFF3_ENST00000409579.1_Missense_Mutation_p.P942R|AFF3_ENST00000409236.1_Missense_Mutation_p.P917R|AFF3_ENST00000356421.2_Missense_Mutation_p.P942R	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	917					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.P942R(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GTCGGCCTTAGGCTTTTTGCT	0.478													8	158					0	0	0.27861	0	0	C	100199303	G	C	100199303	3	2	36	1	0	0	0	0	1	0	0	0	357	1000	35	4	966	4	AFF3	2	100199303	Missense_Mutation	SNP	G	TCGA-EJ-5497-01A-02D-1576-08	25490339	100199303	143000070	6	1994											
FASTKD2	22868	broad.mit.edu	37	chr2	207636634	207636634	+	Frame_Shift_Del	DEL	A	A	-																															ttagatgaaagccttgagggAattagacagattttctgttt																										TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr2:207636634delA	ENST00000236980.6	+	5	1355	c.1007delA	c.(1006-1008)gafs	p.E336fs	FASTKD2_ENST00000402774.3_Frame_Shift_Del_p.E336fs|FASTKD2_ENST00000403094.3_Frame_Shift_Del_p.E336fs	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	336					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		GCCTTGAGGGAATTAGACAGA	0.318													38	164	---	---	---	---						-	207636634	A	-	207636634	7	5	36	1	0	1	0	1	0	0	0	0	5719	246	9	0	1021	0	FASTKD2	2	207636634	Frame_Shift_Del	DEL	A	TCGA-EJ-5497-01A-02D-1576-08	107437331	207636634	35562739	7	1995											
CPS1	1373	broad.mit.edu	37	chr2	211454904	211454904	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatgatgggattttgatcgcGggaggaccggggaacccagc	9	8	16	8	3	0	2	0	2	0	0	1	6	0	6	2	5	2	0	2	5	2	3			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr2:211454904G>A	ENST00000233072.5	+	8	982	c.786G>A	c.(784-786)gcG>gcA	p.A262A	CPS1_ENST00000430249.2_Silent_p.A268A	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	262	Glutamine amidotransferase type-1.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	p.A262A(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TTTTGATCGCGGGAGGACCGG	0.483													24	534					0	0	0.639603	0	0	A	211454904	G	A	211454904	2	1	36	1	0	0	0	0	0	0	0	1	3846	1103	39	1		1	CPS1	2	211454904	Silent	SNP	G	TCGA-EJ-5497-01A-02D-1576-08	3818270	211454904	31744469	8	1996											
RAPGEF2	9693	broad.mit.edu	37	chr4	160260299	160260299	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgctaagggtttttaaggCtgatcagcaaagccgctaca	12	10	11	8	1	1	1	1	1	0	0	1	1	1	1	1	2	4	5	1	2	4	5			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr4:160260299C>T	ENST00000264431.4	+	13	2263	c.1844C>T	c.(1843-1845)gCt>gTt	p.A615V		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	615	Ras-associating.				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity	p.A615V(1)|p.A603V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		GTTTTTAAGGCTGATCAGCAA	0.423													6	355					0	0	0.217242	0	0	T	160260299	C	T	160260299	3	4	36	1	0	0	0	0	1	0	0	0	13096	797	28	2	1894	2	RAPGEF2	4	160260299	Missense_Mutation	SNP	C	TCGA-EJ-5497-01A-02D-1576-08		160260299	30893977	9	1997											
PSD2	84249	broad.mit.edu	37	chr5	139201586	139201586	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaccctgatgacagcacttcGgaaggtatggccccttgccc	9	8	10	14	1	0	2	0	2	0	0	1	3	0	3	4	3	3	2	4	3	3	3			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr5:139201586G>A	ENST00000274710.3	+	6	1411	c.1206G>A	c.(1204-1206)tcG>tcA	p.S402S		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	402	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	p.S402S(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGCACTTCGGAAGGTATGG	0.637													9	82					0	0	0.307466	0	0	A	139201586	G	A	139201586	2	1	36	1	0	0	0	0	0	0	0	1	12696	1103	39	1		1	PSD2	5	139201586	Silent	SNP	G	TCGA-EJ-5497-01A-02D-1576-08		139201586	41713674	10	1998											
PCDHA2	0	broad.mit.edu	37	chr5	140176553	140176553	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acggccaccgtgttagtgtcGttggtggaaagtggccaggc	7	9	16	9	3	0	0	0	0	0	0	1	1	0	1	3	5	0	2	3	5	2	2			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr5:140176553G>A	ENST00000526136.1	+	1	2004	c.2004G>A	c.(2002-2004)tcG>tcA	p.S668S	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Silent_p.S668S|PCDHA2_ENST00000520672.2_Silent_p.S668S	NM_018905.2	NP_061728.1												p.S668S(2)		NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTAGTGTCGTTGGTGGAAA	0.652													11	126					0	0	0.38729	0	0	A	140176553	G	A	140176553	2	1	36	1	0	0	0	0	0	0	0	1	11571	1132	40	1		1	PCDHA2	5	140176553	Silent	SNP	G	TCGA-EJ-5497-01A-02D-1576-08	974967	140176553	40738707	11	1999											
PBX2	5089	broad.mit.edu	37	chr6	32157563	32157563	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttccctcggcctcccgggaCccccccgctacccccaccgg	3	5	8	25	4	0	0	0	0	0	0	3	1	2	1	9	3	1	1	9	3	1	2			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr6:32157563C>A	ENST00000375050.4	-	1	400	c.130G>T	c.(130-132)Gtc>Ttc	p.V44F		NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	44							transcription factor binding	p.V44F(2)		endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						CCTCCCGGGACCCCCCCGCTA	0.711													3	38					0.115264	0.119614	0.115264	1	0	A	32157563	C	A	32157563	3	1	36	1	0	0	0	0	1	0	0	0	11540	507	18	4	1198	4	PBX2	6	32157563	Missense_Mutation	SNP	C	TCGA-EJ-5497-01A-02D-1576-08		32157563	138957504	12	2000											
RSPH4A	345895	broad.mit.edu	37	chr6	116948990	116948990	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgtagctgaagtggaatttCgtgagggggaagatgaagag	12	10	17	2	1	0	5	0	3	0	2	1	7	0	7	0	3	1	2	0	3	5	3			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr6:116948990C>T	ENST00000229554.5	+	3	1257	c.1120C>T	c.(1120-1122)Cgt>Tgt	p.R374C	RSPH4A_ENST00000368580.4_Intron|RSPH4A_ENST00000368581.4_Missense_Mutation_p.R374C	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	374	Glu-rich.				cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke		p.R374C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						AGTGGAATTTCGTgaggggga	0.453									Kartagener syndrome				18	100					0	0	0.520397	0	0	T	116948990	C	T	116948990	3	4	36	1	0	0	0	0	1	0	0	0	13758	884	31	1	1130	1	RSPH4A	6	116948990	Missense_Mutation	SNP	C	TCGA-EJ-5497-01A-02D-1576-08	84791427	116948990	54166077	13	2001											
SYNE1	23345	broad.mit.edu	37	chr6	152639275	152639275	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctgctggtgaagttcagTcagttttcctatcttcttgg	5	17	11	8	0	5	1	2	1	3	0	6	1	6	1	1	3	1	3	1	3	2	6			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr6:152639275T>C	ENST00000367255.5	-	86	17114	c.16513A>G	c.(16513-16515)Act>Gct	p.T5505A	SYNE1_ENST00000356820.4_Missense_Mutation_p.T29A|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000448038.1_Missense_Mutation_p.T5434A|SYNE1_ENST00000265368.4_Missense_Mutation_p.T5505A|SYNE1_ENST00000423061.1_Missense_Mutation_p.T5434A	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5505					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.T5505A(3)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGAAGTTCAGTCAGTTTTCCT	0.448										HNSCC(10;0.0054)			9	188					0	0	0.307466	0	0	C	152639275	T	C	152639275	3	2	36	1	0	0	0	0	1	0	0	0	15502	1667	58	3	10197	3	SYNE1	6	152639275	Missense_Mutation	SNP	T	TCGA-EJ-5497-01A-02D-1576-08	35690285	152639275	18475792	14	2002											
KRBA1	84626	broad.mit.edu	37	chr7	149431015	149431015	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgccgacctcaggagtggCaccagacgggatcccagagc	9	4	14	14	3	1	2	1	0	0	2	2	5	2	4	4	3	2	1	4	3	0	0			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr7:149431015C>G	ENST00000255992.10	+	18	3368	c.2969C>G	c.(2968-2970)gCa>gGa	p.A990G	KRBA1_ENST00000319551.8_Missense_Mutation_p.A930G|KRBA1_ENST00000485033.2_Missense_Mutation_p.A930G|KRBA1_ENST00000479560.1_3'UTR	NM_032534.2	NP_115923.2	A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	991	Pro-rich.							p.A990G(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TCAGGAGTGGCACCAGACGGG	0.667													2	10					0	0	0.115264	0	0	G	149431015	C	G	149431015	3	3	36	1	0	0	0	0	1	0	0	0	8482	710	25	4	3033	4	KRBA1	7	149431015	Missense_Mutation	SNP	C	TCGA-EJ-5497-01A-02D-1576-08		149431015	9707648	15	2003											
RIPK2	8767	broad.mit.edu	37	chr8	90801576	90801576	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaagactgttattttatgaAgctgcatcactgtcctggaa	11	14	8	8	0	2	2	2	1	0	1	3	3	3	3	1	1	2	3	1	1	5	3			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr8:90801576A>G	ENST00000220751.4	+	10	1465	c.1151A>G	c.(1150-1152)aAg>aGg	p.K384R	RIPK2_ENST00000540020.1_Missense_Mutation_p.K247R	NM_003821.5	NP_003812.1	O43353	RIPK2_HUMAN	receptor-interacting serine-threonine kinase 2	384					activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity	p.K384R(2)		kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10			BRCA - Breast invasive adenocarcinoma(11;0.0474)			TATTTTATGAAGCTGCATCAC	0.398													6	259					0	0	0.248553	0	0	G	90801576	A	G	90801576	3	3	36	1	0	0	0	0	1	0	0	0	13433	72	3	3	1189	3	RIPK2	8	90801576	Missense_Mutation	SNP	A	TCGA-EJ-5497-01A-02D-1576-08		90801576	55562446	16	2004											
CSMD3	114788	broad.mit.edu	37	chr8	113275870	113275870	+	Frame_Shift_Del	DEL	A	A	-																															agtagaaatcatacttacgtAagcactgcggtacttcacca																										TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr8:113275870delA	ENST00000297405.5	-	61	10104	c.9860delT	c.(9859-9861)tafs	p.L3287fs	CSMD3_ENST00000455883.2_Frame_Shift_Del_p.L3118fs|CSMD3_ENST00000343508.3_Frame_Shift_Del_p.L3247fs|CSMD3_ENST00000352409.3_Frame_Shift_Del_p.L3217fs	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3287	Sushi 25.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATACTTACGTAAGCACTGCGG	0.388										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			20	58	---	---	---	---						-	113275870	A	-	113275870	7	5	36	1	0	1	0	1	0	0	0	0	3971	372	13	0	1307	0	CSMD3	8	113275870	Frame_Shift_Del	DEL	A	TCGA-EJ-5497-01A-02D-1576-08	22474294	113275870	33088152	17	2005											
HSF1	3297	broad.mit.edu	37	chr8	145534873	145534873	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttgcagtgagaatgaggctCtgtggcgggaggtggccagc	7	8	19	7	1	1	2	0	2	1	1	1	4	1	3	1	5	2	3	1	5	1	1			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr8:145534873C>T	ENST00000528838.1	+	5	662	c.502C>T	c.(502-504)Ctg>Ttg	p.L168L	HSF1_ENST00000400780.4_Silent_p.L103L	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	168	Hydrophobic repeat HR-A/B.					cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	p.L168L(1)		endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			GAATGAGGCTCTGTGGCGGGA	0.667													3	3					0	0	0.115264	0	0	T	145534873	C	T	145534873	2	4	36	1	0	0	0	0	0	0	0	1	7436	912	32	2		2	HSF1	8	145534873	Silent	SNP	C	TCGA-EJ-5497-01A-02D-1576-08	32259003	145534873	829149	18	2006											
LPAR1	1902	broad.mit.edu	37	chr9	113703743	113703743	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagaagactcatcatggtatCccgattccgccggggtccag	9	8	11	13	3	2	2	2	0	0	2	5	3	5	2	4	3	0	1	4	3	2	2			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr9:113703743C>T	ENST00000374431.3	-	4	1134	c.751G>A	c.(751-753)Gat>Aat	p.D251N	LPAR1_ENST00000358883.4_Missense_Mutation_p.D251N|LPAR1_ENST00000541779.1_Missense_Mutation_p.D252N|LPAR1_ENST00000538760.1_Missense_Mutation_p.D252N|LPAR1_ENST00000374430.2_Missense_Mutation_p.D251N	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	251					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane		p.D251N(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						ATCATGGTATCCCGATTCCGC	0.443													24	98					0	0	0.667858	0	0	T	113703743	C	T	113703743	3	4	36	1	0	0	0	0	1	0	0	0	8949	855	30	2	351	2	LPAR1	9	113703743	Missense_Mutation	SNP	C	TCGA-EJ-5497-01A-02D-1576-08		113703743	27509688	19	2007											
UNC5B	219699	broad.mit.edu	37	chr10	73050857	73050857	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	accccgtcaactttaagacgGcaaggcccagtaagaacccg	13	5	9	14	3	1	2	1	0	0	2	1	2	1	2	4	2	2	2	4	2	5	3			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr10:73050857G>A	ENST00000335350.6	+	9	1701	c.1285G>A	c.(1285-1287)Gca>Aca	p.A429T	UNC5B_ENST00000373192.4_Missense_Mutation_p.A418T	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	429					apoptosis|axon guidance|regulation of apoptosis	integral to membrane		p.A429T(2)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						CTTTAAGACGGCAAGGCCCAG	0.597													7	330					0	0	0.27861	0	0	A	73050857	G	A	73050857	3	1	36	1	0	0	0	0	1	0	0	0	17052	1203	42	2	1319	2	UNC5B	10	73050857	Missense_Mutation	SNP	G	TCGA-EJ-5497-01A-02D-1576-08		73050857	62483890	20	2008											
OR9G4	283189	broad.mit.edu	37	chr11	56511197	56511197	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgggaatctgctgagaaacCcaacaagatgaattcagtca	15	8	9	9	0	3	3	2	2	1	2	3	5	3	4	1	1	3	1	1	1	5	1			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr11:56511197C>T	ENST00000302957.3	-	1	90	c.91G>A	c.(91-93)Ggt>Agt	p.G31S		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G31S(1)		NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GCTGAGAAACCCAACAAGATG	0.428													4	107					0	0	0.150653	0	0	T	56511197	C	T	56511197	3	4	36	1	0	0	0	0	1	0	0	0	11298	623	22	2	895	2	OR9G4	11	56511197	Missense_Mutation	SNP	C	TCGA-EJ-5497-01A-02D-1576-08		56511197	78495319	21	2009											
MED17	9440	broad.mit.edu	37	chr11	93529637	93529637	+	Frame_Shift_Del	DEL	T	T	-																															aagaaatcccaaaaatttgcTactgagaagcaatgtccgga																										TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr11:93529637delT	ENST00000251871.3	+	7	1361	c.1074delT	c.(1072-1074)gcfs	p.A358fs	MED17_ENST00000533367.1_3'UTR	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	358					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AAAAATTTGCTACTGAGAAGC	0.358													45	214	---	---	---	---						-	93529637	T	-	93529637	7	5	36	1	0	1	0	1	0	0	0	0	9485	1509	53	0	1100	0	MED17	11	93529637	Frame_Shift_Del	DEL	T	TCGA-EJ-5497-01A-02D-1576-08	37018440	93529637	41476879	22	2010											
NCAPD3	23310	broad.mit.edu	37	chr11	134054637	134054637	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaatccattcagcttacaCttgacagcatctatgaagga	14	11	7	9	0	2	3	1	3	1	0	3	4	3	4	1	1	3	2	1	1	4	4			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr11:134054637C>T	ENST00000534548.2	-	19	2410	c.2346G>A	c.(2344-2346)aaG>aaA	p.K782K	RP11-700F16.3_ENST00000531710.1_RNA	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	782					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	p.K782K(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TCAGCTTACACTTGACAGCAT	0.448													19	96					0	0	0.575678	0	0	T	134054637	C	T	134054637	2	4	36	1	0	0	0	0	0	0	0	1	10253	564	20	2		2	NCAPD3	11	134054637	Silent	SNP	C	TCGA-EJ-5497-01A-02D-1576-08	40525000	134054637	951879	23	2011											
LMO7	4008	broad.mit.edu	37	chr13	76374992	76374992	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgacaagctgctcctctgAtatcacgttgagaggggggc	9	10	13	9	1	2	3	1	3	1	1	3	4	3	3	1	3	2	3	1	3	2	3			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr13:76374992A>G	ENST00000357063.3	+	8	2051	c.791A>G	c.(790-792)gAt>gGt	p.D264G	LMO7_ENST00000377534.3_Missense_Mutation_p.D264G|LMO7_ENST00000321797.8_5'UTR|LMO7_ENST00000465261.2_5'UTR|LMO7_ENST00000341547.4_Missense_Mutation_p.D264G|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000526202.1_Missense_Mutation_p.D173G			Q8WWI1	LMO7_HUMAN	LIM domain 7	264						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	p.D264G(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TGCTCCTCTGATATCACGTTG	0.458													14	328					0	0	0.520397	0	0	G	76374992	A	G	76374992	3	3	36	1	0	0	0	0	1	0	0	0	8896	333	12	3	821	3	LMO7	13	76374992	Missense_Mutation	SNP	A	TCGA-EJ-5497-01A-02D-1576-08		76374992	38794886	24	2012											
CPNE6	9362	broad.mit.edu	37	chr14	24543288	24543288	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaaccaaggtcactaagcCattattgctgaagaatggga	16	8	9	8	0	1	2	1	1	0	1	1	3	1	3	2	2	3	1	2	2	6	3			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr14:24543288C>T	ENST00000397016.2	+	5	688	c.377C>T	c.(376-378)cCa>cTa	p.P126L	CPNE6_ENST00000216775.2_Missense_Mutation_p.P126L|CPNE6_ENST00000560092.1_3'UTR|CPNE6_ENST00000537691.1_Missense_Mutation_p.P181L			O95741	CPNE6_HUMAN	copine VI (neuronal)	126					lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		GTCACTAAGCCATTATTGCTG	0.532													18	90					0	0	0.557998	0	0	T	24543288	C	T	24543288	3	4	36	1	0	0	0	0	1	0	0	0	3839	594	21	2	387	2	CPNE6	14	24543288	Missense_Mutation	SNP	C	TCGA-EJ-5497-01A-02D-1576-08		24543288	82806252	25	2013											
SIPA1L1	26037	broad.mit.edu	37	chr14	72054698	72054698	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acactgatgatttctacatgCggcgcttccggtcccaaaat	10	11	8	12	3	1	2	0	2	1	0	3	2	3	2	2	2	2	1	2	2	3	3			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr14:72054698C>T	ENST00000555818.1	+	2	457	c.109C>T	c.(109-111)Cgg>Tgg	p.R37W	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.R37W|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.R37W	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	37					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	p.R37W(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TTTCTACATGCGGCGCTTCCG	0.547													7	190					0	0	0.27861	0	0	T	72054698	C	T	72054698	3	4	36	1	0	0	0	0	1	0	0	0	14384	759	27	1	111	1	SIPA1L1	14	72054698	Missense_Mutation	SNP	C	TCGA-EJ-5497-01A-02D-1576-08	47511410	72054698	35294842	26	2014											
VPS13C	54832	broad.mit.edu	37	chr15	62146723	62146723	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaatttttgctgctgtctcGttgactgtgcatcctcaatg	6	17	8	10	1	3	1	2	1	1	0	5	1	4	1	1	0	3	4	1	0	2	3			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr15:62146723G>A	ENST00000261517.5	-	85	11268	c.11195C>T	c.(11194-11196)aCg>aTg	p.T3732M	VPS13C_ENST00000249837.3_Missense_Mutation_p.T3689M	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	3732					protein localization			p.T3732M(1)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CTGCTGTCTCGTTGACTGTGC	0.408													10	453					0	0	0.38729	0	0	A	62146723	G	A	62146723	3	1	36	1	0	0	0	0	1	0	0	0	17251	1145	40	1	70	1	VPS13C	15	62146723	Missense_Mutation	SNP	G	TCGA-EJ-5497-01A-02D-1576-08		62146723	40384669	27	2015											
ALDOC	230	broad.mit.edu	37	chr17	26901519	26901519	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtgtggactcaccttctctGtaacatactgacaacgtttg	9	13	9	10	1	2	1	1	1	1	0	3	2	2	2	1	2	3	2	1	2	3	4			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr17:26901519G>T	ENST00000226253.4	-	6	1092	c.617C>A	c.(616-618)aCa>aAa	p.T206K	ALDOC_ENST00000395321.2_Missense_Mutation_p.T206K|ALDOC_ENST00000395319.3_Intron	NM_005165.2	NP_005156.1	P09972	ALDOC_HUMAN	aldolase C, fructose-bisphosphate	206					fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis	cytosol	cytoskeletal protein binding|fructose-bisphosphate aldolase activity	p.T206K(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Lung NSC(42;0.00431)					CACCTTCTCTGTAACATACTG	0.517													12	314					2.27111e-07	2.49822e-07	0.411799	1	0	T	26901519	G	T	26901519	3	4	36	1	0	0	0	0	1	0	0	0	506	1377	48	4	493	4	ALDOC	17	26901519	Missense_Mutation	SNP	G	TCGA-EJ-5497-01A-02D-1576-08		26901519	54293691	28	2016											
NEDD4L	0	broad.mit.edu	37	chr18	55992284	55992286	+	In_Frame_Del	DEL	TCC	TCC	-																															tctcagcaccaagaggaactTcctcctcctcctctgcctcc																										TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr18:55992284_55992286delTCC	ENST00000456986.1	+	9	807_809	c.207_209delTCC	c.(205-210)ctt>ct	p.LP69del	NEDD4L_ENST00000400345.3_In_Frame_Del_p.LP190del|NEDD4L_ENST00000586263.1_In_Frame_Del_p.LP182del|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000435432.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000357895.5_In_Frame_Del_p.LP182del|NEDD4L_ENST00000431212.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000456173.2_In_Frame_Del_p.LP69del|NEDD4L_ENST00000382850.4_In_Frame_Del_p.LP190del|NEDD4L_ENST00000256830.9_In_Frame_Del_p.LP190del|NEDD4L_ENST00000256832.7_In_Frame_Del_p.LP69del|NEDD4L_ENST00000356462.6_In_Frame_Del_p.LP190del	NM_001144964.1	NP_001138436.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	190	C2.				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						AAGAGGAACTTCCTCCTCCTCCT	0.498													8	327	---	---	---	---						-	55992286	TCC	-	55992284	7	5	36	1	0	1	0	1	0	0	0	0	10358	1770	62	0	632	0	NEDD4L	18	55992284	In_Frame_Del	DEL	TCC	TCGA-EJ-5497-01A-02D-1576-08		55992284	22084964	29	2017											
ZNF333	84449	broad.mit.edu	37	chr19	14829747	14829747	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggggagaaactgtatgagtgCgcgacttgcggtcaggtctt	8	10	16	7	3	2	2	1	1	1	1	2	4	2	2	0	4	3	1	0	4	2	3			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr19:14829747C>T	ENST00000292530.6	+	12	1699	c.1608C>T	c.(1606-1608)tgC>tgT	p.C536C	ZNF333_ENST00000540689.2_Intron|ZNF333_ENST00000536363.1_Silent_p.C427C	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	536					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C536C(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						TGTATGAGTGCGCGACTTGCG	0.527													13	76					0	0	0.411799	0	0	T	14829747	C	T	14829747	2	4	36	1	0	0	0	0	0	0	0	1	17907	776	27	1		1	ZNF333	19	14829747	Silent	SNP	C	TCGA-EJ-5497-01A-02D-1576-08		14829747	44299236	30	2018											
ZNF181	339318	broad.mit.edu	37	chr19	35232875	35232875	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaagcttttagcaaaggctCaaatcttactgcccatcaaa	15	10	6	10	0	3	0	2	0	1	0	3	1	3	0	1	1	4	3	1	1	6	3			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr19:35232875C>G	ENST00000392232.3	+	6	1889	c.1721C>G	c.(1720-1722)tCa>tGa	p.S574*	ZNF181_ENST00000492450.1_Nonsense_Mutation_p.S530*|ZNF181_ENST00000459757.1_Nonsense_Mutation_p.S529*			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	530					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S466*(1)		endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			AGCAAAGGCTCAAATCTTACT	0.388													5	201					0	0	0.217242	0	0	G	35232875	C	G	35232875	4	3	36	1	0	0	0	0	0	1	0	0	17807	838	29	4	1603	4	ZNF181	19	35232875	Nonsense_Mutation	SNP	C	TCGA-EJ-5497-01A-02D-1576-08	20403128	35232875	23896108	31	2019											
PRODH2	58510	broad.mit.edu	37	chr19	36297714	36297714	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcatccaccaggagccgcaCgtgctgggcccgggcatact	7	5	13	16	4	0	0	0	0	0	0	1	1	1	1	4	3	3	4	4	3	1	1			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr19:36297714C>T	ENST00000301175.3	-	7	942	c.925G>A	c.(925-927)Gtg>Atg	p.V309M		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	309					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity	p.V309M(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGGAGCCGCACGTGCTGGGCC	0.682													4	17					0	0	0.150653	0	0	T	36297714	C	T	36297714	3	4	36	1	0	0	0	0	1	0	0	0	12601	536	19	1	705	1	PRODH2	19	36297714	Missense_Mutation	SNP	C	TCGA-EJ-5497-01A-02D-1576-08	1064839	36297714	22831269	32	2020											
NINL	22981	broad.mit.edu	37	chr20	25436392	25436392	+	Frame_Shift_Del	DEL	C	C	-																															cgcctcttccacccgctcttCtgtggctttcagctgtttct																										TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr20:25436392delC	ENST00000278886.6	-	23	3947	c.3874delG	c.(3874-3876)aafs	p.E1293fs	NINL_ENST00000422516.1_Frame_Shift_Del_p.E944fs|NINL_ENST00000464285.1_5'UTR	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1293					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						ACCCGCTCTTCTGTGGCTTTC	0.527													11	428	---	---	---	---						-	25436392	C	-	25436392	7	5	36	1	0	1	0	1	0	0	0	0	10467	922	32	0	282	0	NINL	20	25436392	Frame_Shift_Del	DEL	C	TCGA-EJ-5497-01A-02D-1576-08		25436392	37589128	33	2021											
ASXL1	171023	broad.mit.edu	37	chr20	31021261	31021261	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagatctccgaaccagagcCagaaggaatctgtacaaaaa	17	5	8	11	1	2	3	0	0	2	3	3	5	2	4	4	1	3	1	4	1	6	1			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr20:31021261C>T	ENST00000375687.4	+	12	1684	c.1260C>T	c.(1258-1260)gcC>gcT	p.A420A	ASXL1_ENST00000306058.5_Silent_p.A415A	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	420					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	p.A420A(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GAACCAGAGCCAGAAGGAATC	0.527			"F, N, Mis"		"MDS, CMML"								5	169					0	0	0.184627	0	0	T	31021261	C	T	31021261	2	4	36	1	0	0	0	0	0	0	0	1	1065	581	21	2		2	ASXL1	20	31021261	Silent	SNP	C	TCGA-EJ-5497-01A-02D-1576-08	5584869	31021261	32004259	34	2022											
PHF20	51230	broad.mit.edu	37	chr20	34458923	34458923	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaaacactgacaaagacttAtcgaggagacgttcctccag	15	7	9	10	2	0	3	0	1	0	2	3	6	2	3	2	1	1	1	2	1	4	2			TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr20:34458923A>G	ENST00000374012.3	+	8	1098	c.969A>G	c.(967-969)ttA>ttG	p.L323L	PHF20_ENST00000439301.1_3'UTR|PHF20_ENST00000481202.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	323					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding	p.L323L(1)		breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					ACAAAGACTTATCGAGGAGAC	0.423													7	149					0	0	0.248553	0	0	G	34458923	A	G	34458923	2	3	36	1	0	0	0	0	0	0	0	1	11879	446	16	3		3	PHF20	20	34458923	Silent	SNP	A	TCGA-EJ-5497-01A-02D-1576-08	3437662	34458923	28566597	35	2023											
EYA2	2139	broad.mit.edu	37	chr20	45797830	45797830	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgacgtctcatcagatgacaAtggccaagatttaaggtggg	12	10	12	7	1	2	4	2	2	1	2	3	4	2	4	1	3	0	0	1	3	3	2	rs143610627		TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chr20:45797830A>C	ENST00000327619.5	+	11	1396	c.1022A>C	c.(1021-1023)aAt>aCt	p.N341T	EYA2_ENST00000357410.3_Missense_Mutation_p.N341T|EYA2_ENST00000317304.6_Missense_Mutation_p.N311T	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	341					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity	p.N341T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				TCAGATGACAATGGCCAAGAT	0.428													43	196					0	0	0.870114	0	0	C	45797830	A	C	45797830	3	2	36	1	0	0	0	0	1	0	0	0	5357	101	4	5	1060	5	EYA2	20	45797830	Missense_Mutation	SNP	A	TCGA-EJ-5497-01A-02D-1576-08	11338907	45797830	17227690	36	2024											
GAGE2D	729408	broad.mit.edu	37	chrX	49208295	49208296	+	In_Frame_Ins	INS	-	-	TAT																															gttggcgaggaagatcgaccINStatcggcctagaccaagacg																										TCGA-EJ-5497-01A-02D-1576-08	TCGA-EJ-5497-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	924c20dd-38c1-48a7-83c6-fd1bdffda680	f6c01a65-6505-4d90-a07f-9c7285b4cf58	g.chrX:49208295_49208296insTAT	ENST00000404720.2	+	2	96_97	c.24_25insTAT	c.(22-27)acatcg>acTATatcg	p.8_9TS>TIS		NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1			G antigen 2D																		GAAGATCGACCTATCGGCCTAG	0.465													8	30	---	---	---	---						TAT	49208296	-	TAT	49208295	7	5	36	1	0	1	1	0	0	0	0	0	6229	668	24	0	366	0	GAGE2D	23	49208295	In_Frame_Ins	INS	-	TCGA-EJ-5497-01A-02D-1576-08		49208295	106062265	37	2025											
PABPC4	8761	broad.mit.edu	37	chr1	40027846	40027846	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccagccagatttgaatgcaTtgtttggatgagtgggaaca	11	11	12	7	0	0	3	0	2	0	1	0	5	0	5	2	2	3	2	2	2	2	3	rs141368472		TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr1:40027846T>C	ENST00000372857.3	-	14	2536	c.1744A>G	c.(1744-1746)Atg>Gtg	p.M582V	PABPC4_ENST00000372858.3_Missense_Mutation_p.M598V|PABPC4_ENST00000372856.3_Missense_Mutation_p.M569V|PABPC4_ENST00000372862.3_Missense_Mutation_p.M553V	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	582	PABC.				blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding	p.M582V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TTTGAATGCATTGTTTGGATG	0.473													5	141					0	0	0.021553	0	0	C	40027846	T	C	40027846	3	2	37	1	0	0	0	0	1	0	0	0	11413	1493	52	3	198	3	PABPC4	1	40027846	Missense_Mutation	SNP	T	TCGA-EJ-5498-01A-01D-1576-08		40027846	209222775	1	2026											
RSBN1	54665	broad.mit.edu	37	chr1	114319949	114319949	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacactggagtcggaggctaGaaagtgtaccccagggcaaa	13	6	13	9	1	0	1	0	0	0	1	1	3	0	3	2	4	2	3	2	4	5	3			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr1:114319949G>C	ENST00000261441.5	-	4	1604	c.1541C>G	c.(1540-1542)tCt>tGt	p.S514C		NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	514						nucleus		p.S514C(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCGGAGGCTAGAAAGTGTACC	0.428													40	188					0	0	0.086207	0	0	C	114319949	G	C	114319949	3	2	37	1	0	0	0	0	1	0	0	0	13748	942	33	4	883	4	RSBN1	1	114319949	Missense_Mutation	SNP	G	TCGA-EJ-5498-01A-01D-1576-08	74292103	114319949	134930672	2	2027											
CFH	3075	broad.mit.edu	37	chr1	196695918	196695918	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtacctgtggagatatacCtgaacttgaacatggctggg	11	10	13	7	0	0	3	0	2	0	1	0	5	0	3	2	3	4	2	2	3	5	4			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr1:196695918C>A	ENST00000367429.4	+	14	2324	c.2084C>A	c.(2083-2085)cCt>cAt	p.P695H		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	695	Sushi 12.				complement activation, alternative pathway	extracellular space		p.P695H(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GGAGATATACCTGAACTTGAA	0.353													29	169					1.13719e-10	1.40476e-10	0.134883	1	0	A	196695918	C	A	196695918	3	1	37	1	0	0	0	0	1	0	0	0	3305	681	24	4	2156	4	CFH	1	196695918	Missense_Mutation	SNP	C	TCGA-EJ-5498-01A-01D-1576-08	82375969	196695918	52554703	3	2028											
ASPM	259266	broad.mit.edu	37	chr1	197104365	197104365	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaaatggcatcgggtgtctGggaatatctaagaatacaat	14	10	11	6	1	2	1	0	0	2	1	3	2	2	2	0	3	1	2	0	3	7	3			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr1:197104365G>C	ENST00000367409.4	-	5	2290	c.2034C>G	c.(2032-2034)ccC>ccG	p.P678P	ASPM_ENST00000294732.7_Silent_p.P678P	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	678					mitosis	cytoplasm|nucleus	calmodulin binding	p.P678P(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TCGGGTGTCTGGGAATATCTA	0.333													12	100					0	0	0.105934	0	0	C	197104365	G	C	197104365	2	2	37	1	0	0	0	0	0	0	0	1	1055	1335	47	4		4	ASPM	1	197104365	Silent	SNP	G	TCGA-EJ-5498-01A-01D-1576-08	408447	197104365	52146256	4	2029											
OBSCN	84033	broad.mit.edu	37	chr1	228462137	228462137	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccacaccagtgcgcagctcaCcgtcagtggtatgtaagggg	9	7	13	12	2	2	0	2	0	0	0	2	0	2	0	3	3	2	4	3	3	2	2			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr1:228462137C>T	ENST00000570156.2	+	23	6874	c.6800C>T	c.(6799-6801)aCc>aTc	p.T2267I	OBSCN_ENST00000422127.1_Missense_Mutation_p.T1892I|OBSCN_ENST00000284548.11_Missense_Mutation_p.T1892I|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.T739I	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1250					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.T2175I(1)|p.T1892I(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCGCAGCTCACCGTCAGTGGT	0.642													6	32					0	0	0.02938	0	0	T	228462137	C	T	228462137	3	4	37	1	0	0	0	0	1	0	0	0	10860	507	18	2	5745	2	OBSCN	1	228462137	Missense_Mutation	SNP	C	TCGA-EJ-5498-01A-01D-1576-08	31357772	228462137	20788484	5	2030											
GNPAT	8443	broad.mit.edu	37	chr1	231377146	231377146	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggagtcttccagttcatctAactcttatttctccgttggc	6	17	7	11	1	5	0	1	0	4	0	7	1	6	1	2	2	1	2	2	2	2	6			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr1:231377146A>G	ENST00000366647.4	+	1	191	c.22A>G	c.(22-24)Aac>Gac	p.N8D	GNPAT_ENST00000366646.3_Missense_Mutation_p.N8D	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	8	Poly-Ser.				ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis	peroxisomal matrix|peroxisomal membrane	glycerone-phosphate O-acyltransferase activity	p.N8D(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				CAGTTCATCTAACTCTTATTT	0.617													26	162					0	0	0.045705	0	0	G	231377146	A	G	231377146	3	3	37	1	0	0	0	0	1	0	0	0	6583	362	13	3	24	3	GNPAT	1	231377146	Missense_Mutation	SNP	A	TCGA-EJ-5498-01A-01D-1576-08	2915009	231377146	17873475	6	2031											
LYST	1130	broad.mit.edu	37	chr1	235840808	235840808	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcccatatgatgcaggttcCgtctctgctcacacttatca	9	13	6	13	1	3	1	2	1	1	0	6	1	5	1	2	1	2	3	2	1	2	3			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr1:235840808C>T	ENST00000389794.3	-	49	11086	c.10912G>A	c.(10912-10914)Gga>Aga	p.G3638R	LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.G3638R			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3638					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	p.G3638R(1)		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)			ATGCAGGTTCCGTCTCTGCTC	0.338													34	237					0	0	0.080422	0	0	T	235840808	C	T	235840808	3	4	37	1	0	0	0	0	1	0	0	0	9174	661	23	1	513	1	LYST	1	235840808	Missense_Mutation	SNP	C	TCGA-EJ-5498-01A-01D-1576-08	4463662	235840808	13409813	7	2032											
FBXO11	80204	broad.mit.edu	37	chr2	48059590	48059590	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttaacccaaatcccagctaaCgcattattggaaatttcatt	14	13	4	10	1	1	0	1	0	0	0	2	1	2	1	2	1	3	2	2	1	5	6			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr2:48059590C>T	ENST00000403359.3	-	11	1368	c.1296G>A	c.(1294-1296)gcG>gcA	p.A432A	FBXO11_ENST00000402508.1_Silent_p.A348A|FBXO11_ENST00000316377.4_Silent_p.A348A|FBXO11_ENST00000434523.2_5'UTR	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	432					ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	p.A348A(2)|p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TCCCAGCTAACGCATTATTGG	0.328			"Mis, F, D"		DLBCL								18	128					0	0	0.038395	0	0	T	48059590	C	T	48059590	2	4	37	1	0	0	0	0	0	0	0	1	5760	523	19	1		1	FBXO11	2	48059590	Silent	SNP	C	TCGA-EJ-5498-01A-01D-1576-08		48059590	195139783	8	2033											
KYNU	8942	broad.mit.edu	37	chr2	143790837	143790837	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctggggtctgtggattcCgaatttcaaatcctcccatt	7	14	8	12	1	2	0	1	0	1	0	6	2	6	1	4	3	0	0	4	3	2	3			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr2:143790837C>T	ENST00000264170.4	+	12	1246	c.988C>T	c.(988-990)Cga>Tga	p.R330*	KYNU_ENST00000409512.1_Nonsense_Mutation_p.R330*	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase	330					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity	p.R330*(1)		large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	CTGTGGATTCCGAATTTCAAA	0.373													63	486					0	0	0.139131	0	0	T	143790837	C	T	143790837	4	4	37	1	0	0	0	0	0	1	0	0	8626	644	23	1	1056	1	KYNU	2	143790837	Nonsense_Mutation	SNP	C	TCGA-EJ-5498-01A-01D-1576-08	95731247	143790837	99408536	9	2034											
SP140L	93349	broad.mit.edu	37	chr2	231222557	231222557	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatgtagatgagggacttGtctatgacactgtattcaag	12	12	12	5	0	2	3	1	2	1	1	2	5	2	5	0	2	0	2	0	2	4	5			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr2:231222557G>T	ENST00000243810.6	+	3	145	c.145G>T	c.(145-147)Gtc>Ttc	p.V49F	SP140L_ENST00000396563.4_Missense_Mutation_p.V49F|SP140L_ENST00000415673.2_Missense_Mutation_p.V49F|SP140_ENST00000486687.2_3'UTR|SP140L_ENST00000458341.1_5'UTR|SP140L_ENST00000444636.1_Missense_Mutation_p.V49F			Q9H930	LY10L_HUMAN	SP140 nuclear body protein-like	49	HSR.					nucleus	DNA binding|metal ion binding	p.V49F(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						TGAGGGACTTGTCTATGACAC	0.423													14	454					3.27435e-08	3.92922e-08	0.11911	1	0	T	231222557	G	T	231222557	3	4	37	1	0	0	0	0	1	0	0	0	15017	1377	48	4	155	4	SP140L	2	231222557	Missense_Mutation	SNP	G	TCGA-EJ-5498-01A-01D-1576-08	87431720	231222557	11976816	10	2035											
SETD2	29072	broad.mit.edu	37	chr3	47163433	47163433	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgttctctccgcatttcAagagagttagactgtccacc	9	13	8	11	1	2	2	1	0	1	2	5	3	4	2	3	0	0	3	3	0	2	3			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr3:47163433A>C	ENST00000409792.3	-	3	2735	c.2693T>G	c.(2692-2694)tTg>tGg	p.L898W		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	898					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	p.L395W(1)|p.L898W(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TCCGCATTTCAAGAGAGTTAG	0.378			"N, F, S, Mis"		clear cell renal carcinoma								8	273					0	0	0.038147	0	0	C	47163433	A	C	47163433	3	2	37	1	0	0	0	0	1	0	0	0	14185	131	5	5	5077	5	SETD2	3	47163433	Missense_Mutation	SNP	A	TCGA-EJ-5498-01A-01D-1576-08		47163433	150858997	11	2036											
MST1	4485	broad.mit.edu	37	chr3	49723304	49723304	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggactcactgcggcttgtgCggcgtctcagcggaccagcg	5	7	16	13	5	2	0	2	0	1	0	3	2	2	2	1	4	4	1	1	4	0	1			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr3:49723304C>T	ENST00000449682.2	-	10	1600	c.1239G>A	c.(1237-1239)ccG>ccA	p.P413P	MST1_ENST00000383728.3_3'UTR	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	399	Kringle 4.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCGGCTTGTGCGGCGTCTCAG	0.682													4	112					0	0	0.014758	0	0	T	49723304	C	T	49723304	2	4	37	1	0	0	0	0	0	0	0	1	9938	755	27	1		1	MST1	3	49723304	Silent	SNP	C	TCGA-EJ-5498-01A-01D-1576-08	2559871	49723304	148299126	12	2037											
MYH15	22989	broad.mit.edu	37	chr3	108112995	108112995	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttcttcttctggctgaggagGcttgtgttctaaagaaaagc	9	14	11	7	0	4	2	0	1	4	1	4	3	4	3	0	3	1	3	0	3	4	6			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr3:108112995G>A	ENST00000273353.3	-	37	5258	c.5202C>T	c.(5200-5202)agC>agT	p.S1734S		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1734						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.S1734S(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GGCTGAGGAGGCTTGTGTTCT	0.478													30	150					0	0	0.144211	0	0	A	108112995	G	A	108112995	2	1	37	1	0	0	0	0	0	0	0	1	10082	1194	42	2		2	MYH15	3	108112995	Silent	SNP	G	TCGA-EJ-5498-01A-01D-1576-08	58389691	108112995	89909435	13	2038											
AMBN	258	broad.mit.edu	37	chr4	71472377	71472377	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggccccaaactctctgcaaaCatccatgccaggaaacaaag	15	5	7	14	0	1	0	0	0	1	0	3	1	2	1	4	2	5	1	4	2	4	0			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr4:71472377C>T	ENST00000322937.6	+	13	1377	c.1274C>T	c.(1273-1275)aCa>aTa	p.T425I	AMBN_ENST00000449493.2_Missense_Mutation_p.T410I	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	425					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel	p.T425I(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			TCTCTGCAAACATCCATGCCA	0.488													22	93					0	0	0.055883	0	0	T	71472377	C	T	71472377	3	4	37	1	0	0	0	0	1	0	0	0	559	478	17	2	1324	2	AMBN	4	71472377	Missense_Mutation	SNP	C	TCGA-EJ-5498-01A-01D-1576-08		71472377	119681899	14	2039											
FAT4	79633	broad.mit.edu	37	chr4	126242091	126242091	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgccaatagaaactagaCggtatgctttgaagaacgtg	13	10	11	7	2	0	4	0	1	0	3	0	4	0	4	1	1	4	2	1	1	7	4			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr4:126242091C>T	ENST00000394329.3	+	1	4538	c.4525C>T	c.(4525-4527)Cgg>Tgg	p.R1509W		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1509	Cadherin 14.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R1509W(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGAAACTAGACGGTATGCTTT	0.403													52	285					0	0	0.139131	0	0	T	126242091	C	T	126242091	3	4	37	1	0	0	0	0	1	0	0	0	5725	527	19	1	4527	1	FAT4	4	126242091	Missense_Mutation	SNP	C	TCGA-EJ-5498-01A-01D-1576-08	54769714	126242091	64912185	15	2040											
FAM134B	54463	broad.mit.edu	37	chr5	16475005	16475005	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaccttcttcagtgtctgTgtcctcttctgggatggggg	4	15	12	10	0	6	0	2	0	4	0	7	1	7	1	2	3	0	0	2	3	0	3			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr5:16475005T>C	ENST00000306320.9	-	9	1425	c.1339A>G	c.(1339-1341)Aca>Gca	p.T447A	FAM134B_ENST00000399793.2_Missense_Mutation_p.T306A	NM_001034850.2	NP_001030022.1	Q9H6L5	F134B_HUMAN	family with sequence similarity 134, member B	447					sensory perception of pain	cis-Golgi network|endoplasmic reticulum|integral to membrane		p.T447A(1)		breast(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(1)	16						TCAGTGTCTGTGTCCTCTTCT	0.493													21	133					0	0	0.055883	0	0	C	16475005	T	C	16475005	3	2	37	1	0	0	0	0	1	0	0	0	5477	1696	59	3	158	3	FAM134B	5	16475005	Missense_Mutation	SNP	T	TCGA-EJ-5498-01A-01D-1576-08		16475005	164440255	16	2041											
EHMT2	10919	broad.mit.edu	37	chr6	31850727	31850727	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctccagcatgagcacgcctgGttacactcgaaaatcagcgg	11	7	10	13	3	1	1	1	1	0	0	3	2	2	1	2	2	4	3	2	2	3	1			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr6:31850727G>T	ENST00000395728.3	-	23	3224	c.3225C>A	c.(3223-3225)aaC>aaA	p.N1075K	EHMT2_ENST00000375528.4_Missense_Mutation_p.N1041K|EHMT2_ENST00000375530.4_Missense_Mutation_p.N984K|EHMT2_ENST00000375537.4_Missense_Mutation_p.N1018K|EHMT2_ENST00000480912.1_5'UTR			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	1018	Interaction with histone H3 (By similarity).|SET.				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	p.N1018K(1)		central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						AGCACGCCTGGTTACACTCGA	0.572													4	76					2.0095e-06	2.28105e-06	0.02938	1	0	T	31850727	G	T	31850727	3	4	37	1	0	0	0	0	1	0	0	0	5010	1252	44	4	598	4	EHMT2	6	31850727	Missense_Mutation	SNP	G	TCGA-EJ-5498-01A-01D-1576-08		31850727	139264340	17	2042											
TAAR9	134860	broad.mit.edu	37	chr6	132859537	132859537	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctcgatctatcctctacGccgtccttggttttggggct	3	15	10	13	3	2	0	0	0	2	0	6	1	5	0	4	3	1	2	4	3	2	5			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr6:132859537G>A	ENST00000434551.1	+	0	109					NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN	trace amine associated receptor 9 (gene/pseudogene)							plasma membrane	G-protein coupled receptor activity	p.A37T(1)				Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		TATCCTCTACGCCGTCCTTGG	0.478													12	63					0	0	0.105934	0	0	A	132859537	G	A	132859537	1	1	37	0	1	0	0	0	0	0	0	0	15551	1087	38	1		1	TAAR9	6	132859537	RNA	SNP	G	TCGA-EJ-5498-01A-01D-1576-08	101008810	132859537	38255530	18	2043											
ABCA13	154664	broad.mit.edu	37	chr7	48327660	48327660	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atacaaggggtcactttggcGcaggaccacttccaggtttg	9	10	12	10	1	1	0	1	0	0	0	2	1	2	1	2	5	1	2	2	5	2	4			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr7:48327660G>A	ENST00000435803.1	+	20	8964	c.8940G>A	c.(8938-8940)gcG>gcA	p.A2980A		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2980					transport	integral to membrane	ATP binding|ATPase activity	p.A2980A(2)|p.A2925A(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCACTTTGGCGCAGGACCACT	0.438													55	221					0	0	0.139131	0	0	A	48327660	G	A	48327660	2	1	37	1	0	0	0	0	0	0	0	1	31	1074	38	1		1	ABCA13	7	48327660	Silent	SNP	G	TCGA-EJ-5498-01A-01D-1576-08		48327660	110811003	19	2044											
PON1	5444	broad.mit.edu	37	chr7	94940824	94940824	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgatttttcttcttcttgaaAtttaaacaactccactgtgg	10	17	5	9	1	3	1	0	1	3	0	4	2	4	1	1	1	2	0	1	1	4	7			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr7:94940824A>C	ENST00000222381.3	-	5	667	c.436T>G	c.(436-438)Ttt>Gtt	p.F146V	PON1_ENST00000542556.1_Missense_Mutation_p.F146V	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	146					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity	p.F146V(1)		autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	TCTTCTTGAAATTTAAACAAC	0.353													34	177					0	0	0.050027	0	0	C	94940824	A	C	94940824	3	2	37	1	0	0	0	0	1	0	0	0	12296	101	4	5	651	5	PON1	7	94940824	Missense_Mutation	SNP	A	TCGA-EJ-5498-01A-01D-1576-08	46613164	94940824	64197839	20	2045											
PIK3CG	5294	broad.mit.edu	37	chr7	106524649	106524649	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgtgcaggctactgtgTggcaacctttgttcttggaa	6	15	11	9	0	1	0	0	0	1	0	2	1	2	1	2	3	3	4	2	3	3	5			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr7:106524649T>C	ENST00000359195.3	+	9	3120	c.2810T>C	c.(2809-2811)gTg>gCg	p.V937A	PIK3CG_ENST00000440650.2_Missense_Mutation_p.V937A|PIK3CG_ENST00000496166.1_Missense_Mutation_p.V937A	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	937	PI3K/PI4K.				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	p.V937A(2)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GGCTACTGTGTGGCAACCTTT	0.368													48	267					0	0	0.139131	0	0	C	106524649	T	C	106524649	3	2	37	1	0	0	0	0	1	0	0	0	11964	1696	59	3	2840	3	PIK3CG	7	106524649	Missense_Mutation	SNP	T	TCGA-EJ-5498-01A-01D-1576-08	11583825	106524649	52614014	21	2046											
FEZF1	389549	broad.mit.edu	37	chr7	121943288	121943288	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcttgcctgaaaccttttccGcacactttgcaaacgaaggg	10	10	9	12	2	0	1	0	1	0	0	1	2	1	1	3	1	4	3	3	1	3	4			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr7:121943288G>A	ENST00000442488.2	-	2	946	c.879C>T	c.(877-879)tgC>tgT	p.C293C	FEZF1_ENST00000427185.2_Silent_p.C243C|FEZF1_ENST00000331178.4_Silent_p.C289C	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	293					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C293C(1)|p.C289C(1)		breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						AACCTTTTCCGCACACTTTGC	0.463													25	134					0	0	0.099896	0	0	A	121943288	G	A	121943288	2	1	37	1	0	0	0	0	0	0	0	1	5858	1079	38	1		1	FEZF1	7	121943288	Silent	SNP	G	TCGA-EJ-5498-01A-01D-1576-08	15418639	121943288	37195375	22	2047											
SSPO	23145	broad.mit.edu	37	chr7	149493511	149493511	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccgtatggactttcggccGcatggtgcaggcgaggtttg	5	11	16	9	4	0	0	0	0	0	0	1	2	0	1	2	5	2	4	2	5	1	3			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr7:149493511G>A	ENST00000378016.2	+	0	6587							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ACTTTCGGCCGCATGGTGCAG	0.607													4	155					0	0	0.014758	0	0	A	149493511	G	A	149493511	1	1	37	0	1	0	0	0	0	0	0	0	15245	1087	38	1		1	SSPO	7	149493511	RNA	SNP	G	TCGA-EJ-5498-01A-01D-1576-08	27550223	149493511	9645152	23	2048											
RP1	6101	broad.mit.edu	37	chr8	55537506	55537506	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atggacaactactgtcagtaAaactggtccttctaataatg	14	12	7	8	0	2	0	1	0	1	0	3	1	3	1	1	2	3	1	1	2	6	5			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr8:55537506A>T	ENST00000220676.1	+	4	1212	c.1064A>T	c.(1063-1065)aAa>aTa	p.K355I		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	355					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.K355I(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ACTGTCAGTAAAACTGGTCCT	0.353													10	60					0	0	0.058154	0	0	T	55537506	A	T	55537506	3	4	37	1	0	0	0	0	1	0	0	0	13584	14	1	5	1074	5	RP1	8	55537506	Missense_Mutation	SNP	A	TCGA-EJ-5498-01A-01D-1576-08		55537506	90826516	24	2049											
LCN12	286256	broad.mit.edu	37	chr9	139847394	139847394	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgggcaacagcttcaggccGgagcacagggcgctgctgaa	9	4	16	12	3	1	1	1	1	0	0	1	2	1	2	1	4	4	5	1	4	2	1	rs62580418		TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr9:139847394G>A	ENST00000371633.3	+	2	165	c.165G>A	c.(163-165)ccG>ccA	p.P55P		NM_178536.3	NP_848631.2	Q6JVE5	LCN12_HUMAN	lipocalin 12	55					lipid metabolic process	extracellular region	binding|transporter activity	p.P55P(1)		endometrium(1)|kidney(1)|lung(1)|prostate(2)	5	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		GCTTCAGGCCGGAGCACAGGG	0.637													39	233					0	0	0.104719	0	0	A	139847394	G	A	139847394	2	1	37	1	0	0	0	0	0	0	0	1	8721	1103	39	1		1	LCN12	9	139847394	Silent	SNP	G	TCGA-EJ-5498-01A-01D-1576-08		139847394	1366037	25	2050											
MLLT10	8028	broad.mit.edu	37	chr10	21962615	21962615	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggcatagaagaagaaactgTaaaggaaaagaaaaggaaag	23	4	12	2	0	0	4	0	0	0	4	0	6	0	6	0	3	1	2	0	3	11	2			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr10:21962615T>A	ENST00000377072.3	+	11	1736	c.1388T>A	c.(1387-1389)gTa>gAa	p.V463E	MLLT10_ENST00000377059.3_Missense_Mutation_p.V463E|MLLT10_ENST00000446906.2_Missense_Mutation_p.V463E|MLLT10_ENST00000307729.7_Missense_Mutation_p.V463E	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	463	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V463E(2)		NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GAAGAAACTGTAAAGGAAAAG	0.398			T	"MLL, PICALM, CDK6"	AL								7	340					0	0	0.02938	0	0	A	21962615	T	A	21962615	3	1	37	1	0	0	0	0	1	0	0	0	9674	1638	57	5	1426	5	MLLT10	10	21962615	Missense_Mutation	SNP	T	TCGA-EJ-5498-01A-01D-1576-08		21962615	113572132	26	2051											
SORCS3	22986	broad.mit.edu	37	chr10	106974254	106974254	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctaagggagaagtacacCgccaaggcccagatgtgccc	11	4	14	12	1	0	2	0	0	0	2	0	3	0	2	4	3	2	2	4	3	4	2			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr10:106974254C>T	ENST00000369701.3	+	18	2657	c.2430C>T	c.(2428-2430)acC>acT	p.T810T	SORCS3_ENST00000369699.4_Silent_p.T96T	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	810						integral to membrane	neuropeptide receptor activity	p.T810T(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AGAAGTACACCGCCAAGGCCC	0.537													4	97					0	0	0.009096	0	0	T	106974254	C	T	106974254	2	4	37	1	0	0	0	0	0	0	0	1	14986	639	23	1		1	SORCS3	10	106974254	Silent	SNP	C	TCGA-EJ-5498-01A-01D-1576-08	85011639	106974254	28560493	27	2052											
CAPZA3	93661	broad.mit.edu	37	chr12	18891209	18891209	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgcaaccaaacatgacaCttagcgtgctgagcaggaag	13	8	11	9	1	0	2	0	2	0	0	0	3	0	3	1	1	6	4	1	1	4	2			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr12:18891209C>G	ENST00000317658.3	+	1	165	c.7C>G	c.(7-9)Ctt>Gtt	p.L3V		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	3					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding	p.L3V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				AAACATGACACTTAGCGTGCT	0.438													4	201					0	0	0.021553	0	0	G	18891209	C	G	18891209	3	3	37	1	0	0	0	0	1	0	0	0	2660	565	20	4	9	4	CAPZA3	12	18891209	Missense_Mutation	SNP	C	TCGA-EJ-5498-01A-01D-1576-08		18891209	114960686	28	2053											
OR6C76	390326	broad.mit.edu	37	chr12	55820712	55820712	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atcagaactattctgagaatCccctcagcacagcaaagaaa	17	7	6	11	0	3	3	2	1	1	3	4	4	4	3	2	0	3	2	2	0	5	2			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr12:55820712C>T	ENST00000328314.3	+	1	675	c.675C>T	c.(673-675)atC>atT	p.I225I		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I225I(1)		NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TTCTGAGAATCCCCTCAGCAC	0.363													18	108					0	0	0.0333	0	0	T	55820712	C	T	55820712	2	4	37	1	0	0	0	0	0	0	0	1	11247	845	30	2		2	OR6C76	12	55820712	Silent	SNP	C	TCGA-EJ-5498-01A-01D-1576-08	36929503	55820712	78031183	29	2054											
C12orf63	0	broad.mit.edu	37	chr12	97085090	97085090	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgttaggcaaaacctaatagTaagtaatttgtaaaataaaa	20	12	6	3	0	0	0	0	0	0	0	0	0	0	0	1	1	1	5	1	1	11	8			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr12:97085090T>A	ENST00000524981.3	+	11	1617		c.e11+2					Q6ZTY8	CL063_HUMAN												breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						AACCTAATAGTAAGTAATTTG	0.318													4	95					0	0	0.009096	0	0	A	97085090	T	A	97085090	5	1	37	1	0	0	0	0	0	0	1	0	1712	1652	57	5	1579	5	C12orf63	12	97085090	Splice_Site	SNP	T	TCGA-EJ-5498-01A-01D-1576-08	41264378	97085090	36766805	30	2055											
MCF2L	23263	broad.mit.edu	37	chr13	113729393	113729393	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actacgcggtagactccatcCgcccaaagtgccaggagctc	10	6	10	15	3	0	1	0	0	0	1	3	2	2	2	4	2	3	2	4	2	3	2			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr13:113729393C>T	ENST00000397030.1	+	11	1334	c.1297C>T	c.(1297-1299)Cgc>Tgc	p.R433C	MCF2L_ENST00000375597.4_Missense_Mutation_p.R398C|MCF2L_ENST00000423482.2_Missense_Mutation_p.R398C|MCF2L_ENST00000421756.1_Missense_Mutation_p.R404C|MCF2L_ENST00000442652.2_Missense_Mutation_p.R430C|MCF2L_ENST00000535094.2_Missense_Mutation_p.R400C|MCF2L_ENST00000434480.2_Missense_Mutation_p.R406C|MCF2L_ENST00000375604.2_Missense_Mutation_p.R457C|MCF2L_ENST00000375608.3_Missense_Mutation_p.R430C|MCF2L_ENST00000375601.3_Missense_Mutation_p.R404C			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	430					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity	p.R404C(1)		kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				AGACTCCATCCGCCCAAAGTG	0.662													21	138					0	0	0.049695	0	0	T	113729393	C	T	113729393	3	4	37	1	0	0	0	0	1	0	0	0	9429	652	23	1	1506	1	MCF2L	13	113729393	Missense_Mutation	SNP	C	TCGA-EJ-5498-01A-01D-1576-08		113729393	1440485	31	2056											
SYNE2	23224	broad.mit.edu	37	chr14	64557603	64557603	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcatacttgaaaatatacGtcccatgaagaaaaccattg	16	10	7	8	1	1	3	1	2	0	1	2	3	2	3	2	1	3	0	2	1	8	5			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr14:64557603G>A	ENST00000357395.3	+	61	12112	c.968G>A	c.(967-969)cGt>cAt	p.R323H	SYNE2_ENST00000358025.3_Missense_Mutation_p.R3938H|SYNE2_ENST00000554584.1_Missense_Mutation_p.R3971H|SYNE2_ENST00000555002.1_Missense_Mutation_p.R572H|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000344113.4_Missense_Mutation_p.R3938H|SYNE2_ENST00000394768.2_Missense_Mutation_p.R323H			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3938					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	p.R3938H(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GAAAATATACGTCCCATGAAG	0.358													16	98					0	0	0.043863	0	0	A	64557603	G	A	64557603	3	1	37	1	0	0	0	0	1	0	0	0	15503	1145	40	1	12047	1	SYNE2	14	64557603	Missense_Mutation	SNP	G	TCGA-EJ-5498-01A-01D-1576-08		64557603	42791937	32	2057											
RYR3	6263	broad.mit.edu	37	chr15	33954939	33954939	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaccctgctggtcatgggCgtgtttgatgatgatgatgt	7	13	15	6	1	1	4	1	4	0	0	1	5	1	5	1	3	2	2	1	3	1	1			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr15:33954939C>T	ENST00000389232.4	+	35	5278	c.5208C>T	c.(5206-5208)ggC>ggT	p.G1736G	RYR3_ENST00000415757.3_Silent_p.G1736G	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1736	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.G1736G(2)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGGTCATGGGCGTGTTTGATG	0.567													20	115					0	0	0.049695	0	0	T	33954939	C	T	33954939	2	4	37	1	0	0	0	0	0	0	0	1	13822	755	27	1		1	RYR3	15	33954939	Silent	SNP	C	TCGA-EJ-5498-01A-01D-1576-08		33954939	68576453	33	2058											
C16orf13	84326	broad.mit.edu	37	chr16	685626	685626	+	Frame_Shift_Del	DEL	G	G	-																															acagacctccgtgcagcgcaGggggctgacatgggccatgt																										TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr16:685626delG	ENST00000301686.8	-	2	357	c.346delC	c.(346-348)tgfs	p.L116fs	C16orf13_ENST00000397664.4_Intron|C16orf13_ENST00000397666.2_Frame_Shift_Del_p.L116fs|C16orf13_ENST00000338401.4_Intron|C16orf13_ENST00000397665.2_Frame_Shift_Del_p.L116fs	NM_032366.3	NP_115742.3	Q96S19	CP013_HUMAN	chromosome 16 open reading frame 13	116										large_intestine(1)	1		Hepatocellular(780;0.00335)				GTGCAGCGCAGGGGGCTGACA	0.657													2	4	---	---	---	---						-	685626	G	-	685626	7	5	37	1	0	1	0	1	0	0	0	0	1818	991	35	0	359	0	C16orf13	16	685626	Frame_Shift_Del	DEL	G	TCGA-EJ-5498-01A-01D-1576-08		685626	89669127	34	2059											
CLTC	1213	broad.mit.edu	37	chr17	57737855	57737855	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggctgtacgtaataacttagCcggtgctgaagaactctttg	10	12	11	8	2	1	2	0	1	1	1	1	2	1	2	1	2	5	4	1	2	6	5			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr17:57737855C>T	ENST00000269122.3	+	7	1347	c.1073C>T	c.(1072-1074)gCc>gTc	p.A358V	CLTC_ENST00000393043.1_Missense_Mutation_p.A358V|CLTC_ENST00000579456.1_Intron	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	358	Globular terminal domain.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity	p.A358V(1)	CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					AATAACTTAGCCGGTGCTGAA	0.433			T	"ALK, TFE3"	"ALCL, renal "								6	443					0	0	0.021553	0	0	T	57737855	C	T	57737855	3	4	37	1	0	0	0	0	1	0	0	0	3589	739	26	2	1099	2	CLTC	17	57737855	Missense_Mutation	SNP	C	TCGA-EJ-5498-01A-01D-1576-08		57737855	23457355	35	2060											
SERPINB5	5268	broad.mit.edu	37	chr18	61170910	61170910	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttacatcatcaggcacaaCaaaactcgaaacattatttt	17	12	3	9	1	2	0	2	0	0	0	3	1	2	0	0	1	4	1	0	1	6	5			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr18:61170910C>A	ENST00000382771.4	+	7	1375	c.1083C>A	c.(1081-1083)aaC>aaA	p.N361K		NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	361					cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						TCAGGCACAACAAAACTCGAA	0.443													14	395					1.15088e-07	1.3243e-07	0.146539	1	0	A	61170910	C	A	61170910	3	1	37	1	0	0	0	0	1	0	0	0	14158	477	17	4	1105	4	SERPINB5	18	61170910	Missense_Mutation	SNP	C	TCGA-EJ-5498-01A-01D-1576-08		61170910	16906338	36	2061											
TSPAN16	26526	broad.mit.edu	37	chr19	11417404	11417404	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtcctgtgacggacgcgAtgtgtctccaaacgtcatcc	7	11	11	12	4	2	1	1	1	1	0	5	3	4	2	3	1	1	0	3	1	1	0			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr19:11417404A>G	ENST00000316737.1	+	5	725	c.575A>G	c.(574-576)gAt>gGt	p.D192G	TSPAN16_ENST00000590327.1_Missense_Mutation_p.D192G|CTC-510F12.4_ENST00000586356.1_RNA|TSPAN16_ENST00000592955.1_Missense_Mutation_p.D167G	NM_012466.2	NP_036598.1	Q9UKR8	TSN16_HUMAN	tetraspanin 16	192						integral to membrane		p.D192G(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	12						GACGGACGCGATGTGTCTCCA	0.473													5	78					0	0	0.014758	0	0	G	11417404	A	G	11417404	3	3	37	1	0	0	0	0	1	0	0	0	16701	333	12	3	593	3	TSPAN16	19	11417404	Missense_Mutation	SNP	A	TCGA-EJ-5498-01A-01D-1576-08		11417404	47711579	37	2062											
CYP2A13	1553	broad.mit.edu	37	chr19	41596036	41596036	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggttttggcgtgggcaagcGcggcatcgaggaacgcatcc	7	7	17	10	5	0	0	0	0	0	0	2	2	1	1	1	5	2	4	1	5	2	2			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr19:41596036G>A	ENST00000330436.3	+	3	428	c.428G>A	c.(427-429)cGc>cAc	p.R143H		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	143					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding	p.R143H(1)		breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	GTGGGCAAGCGCGGCATCGAG	0.697													10	50					0	0	0.080935	0	0	A	41596036	G	A	41596036	3	1	37	1	0	0	0	0	1	0	0	0	4184	1087	38	1	438	1	CYP2A13	19	41596036	Missense_Mutation	SNP	G	TCGA-EJ-5498-01A-01D-1576-08	30178632	41596036	17532947	38	2063											
ZNF283	284349	broad.mit.edu	37	chr19	44352238	44352238	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaaagaatgcggaaagacCttttgtagtgggtatcaact	13	12	11	5	1	1	2	1	0	0	2	1	3	1	3	1	2	2	3	1	2	7	5			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr19:44352238C>G	ENST00000324461.7	+	7	1782	c.1485C>G	c.(1483-1485)acC>acG	p.T495T	ZNF283_ENST00000588797.1_Silent_p.T356T	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	495					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T495T(2)		endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				GCGGAAAGACCTTTTGTAGTG	0.413													15	218					0	0	0.132662	0	0	G	44352238	C	G	44352238	2	3	37	1	0	0	0	0	0	0	0	1	17878	668	24	4		4	ZNF283	19	44352238	Silent	SNP	C	TCGA-EJ-5498-01A-01D-1576-08	2756202	44352238	14776745	39	2064											
MYBPC2	4606	broad.mit.edu	37	chr19	50939044	50939044	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctgaacagaagccccacccGaggaccagtccccgactgca	11	3	9	18	2	0	2	0	1	0	1	1	5	1	3	7	1	3	1	7	1	2	0			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr19:50939044G>A	ENST00000357701.5	+	3	172	c.121G>A	c.(121-123)Gag>Aag	p.E41K		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	41					cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle	p.E41K(1)		breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		AGCCCCACCCGAGGACCAGTC	0.627													8	20					0	0	0.080935	0	0	A	50939044	G	A	50939044	3	1	37	1	0	0	0	0	1	0	0	0	10060	1059	37	1	131	1	MYBPC2	19	50939044	Missense_Mutation	SNP	G	TCGA-EJ-5498-01A-01D-1576-08	6586806	50939044	8189939	40	2065											
ZNF579	163033	broad.mit.edu	37	chr19	56090151	56090151	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaccagccggtggcgcgaCagggaccagggcctggcgaa	8	3	18	12	4	0	0	0	0	0	0	0	4	0	2	4	6	1	0	4	6	1	0			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr19:56090151C>T	ENST00000325421.4	-	2	883	c.855G>A	c.(853-855)ctG>ctA	p.L285L		NM_152600.2	NP_689813.2	Q8NAF0	ZN579_HUMAN	zinc finger protein 579	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L285L(1)		endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.106)		GGTGGCGCGACAGGGACCAGG	0.731													4	38					0	0	0.021553	0	0	T	56090151	C	T	56090151	2	4	37	1	0	0	0	0	0	0	0	1	18068	465	17	2		2	ZNF579	19	56090151	Silent	SNP	C	TCGA-EJ-5498-01A-01D-1576-08	5151107	56090151	3038832	41	2066											
PEG3	5178	broad.mit.edu	37	chr19	57329201	57329201	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccatcgtcttcagcaagctGcactcctggtcacaaggaca	10	8	9	14	1	3	0	2	0	1	0	5	1	4	1	2	2	3	3	2	2	2	1			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr19:57329201G>T	ENST00000326441.9	-	9	1138	c.775C>A	c.(775-777)Cag>Aag	p.Q259K	PEG3_ENST00000593695.1_Missense_Mutation_p.Q133K|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.Q259K|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.Q135K|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	259					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Q259K(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCAGCAAGCTGCACTCCTGGT	0.488													5	41					0.000602214	0.000665605	0.014758	1	0	T	57329201	G	T	57329201	3	4	37	1	0	0	0	0	1	0	0	0	11767	1328	46	4	3999	4	PEG3	19	57329201	Missense_Mutation	SNP	G	TCGA-EJ-5498-01A-01D-1576-08	1239050	57329201	1799782	42	2067											
RBL1	5933	broad.mit.edu	37	chr20	35668590	35668590	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactgtcagttcgaacttcCttgactcttgggtgcattag	7	14	9	11	1	2	1	1	1	1	0	4	2	3	1	2	1	2	2	2	1	2	5			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr20:35668590C>T	ENST00000373664.3	-	14	1935	c.1869G>A	c.(1867-1869)aaG>aaA	p.K623K	RBL1_ENST00000344359.3_Silent_p.K623K	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	623	Pocket; binds T and E1A.|Spacer.				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding	p.K623K(1)		NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				TTCGAACTTCCTTGACTCTTG	0.418													22	222					0	0	0.069288	0	0	T	35668590	C	T	35668590	2	4	37	1	0	0	0	0	0	0	0	1	13161	680	24	2		2	RBL1	20	35668590	Silent	SNP	C	TCGA-EJ-5498-01A-01D-1576-08		35668590	27356930	43	2068											
JAM2	58494	broad.mit.edu	37	chr21	27078323	27078323	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taagtggcatcatagcagccGtagtagttgtggccttagtg	9	12	13	7	1	1	0	1	0	0	0	1	0	1	0	2	2	2	5	2	2	5	6			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr21:27078323G>A	ENST00000480456.1	+	7	1280	c.730G>A	c.(730-732)Gta>Ata	p.V244I	JAM2_ENST00000400532.1_Missense_Mutation_p.V244I|JAM2_ENST00000425221.2_Missense_Mutation_p.V208I|JAM2_ENST00000312957.5_Missense_Mutation_p.V244I	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	244					blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction		p.V244I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						CATAGCAGCCGTAGTAGTTGT	0.393													16	121					0	0	0.055883	0	0	A	27078323	G	A	27078323	3	1	37	1	0	0	0	0	1	0	0	0	7987	1145	40	1	756	1	JAM2	21	27078323	Missense_Mutation	SNP	G	TCGA-EJ-5498-01A-01D-1576-08		27078323	21051572	44	2069											
DSCAM	1826	broad.mit.edu	37	chr21	41684282	41684282	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaagggttgtatgaaaggCggaactgcaagaaaaaagaa	19	6	12	4	1	1	3	1	1	0	2	1	4	1	4	0	3	2	3	0	3	9	2			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chr21:41684282C>T	ENST00000400454.1	-	9	2265	c.1788G>A	c.(1786-1788)ccG>ccA	p.P596P		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	596	Ig-like C2-type 7.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.P596P(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GTATGAAAGGCGGAACTGCAA	0.448													5	26					0	0	0.014758	0	0	T	41684282	C	T	41684282	2	4	37	1	0	0	0	0	0	0	0	1	4794	755	27	1		1	DSCAM	21	41684282	Silent	SNP	C	TCGA-EJ-5498-01A-01D-1576-08	14605959	41684282	6445613	45	2070											
ARHGAP6	395	broad.mit.edu	37	chrX	11204545	11204545	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgatagaatccactgacaTggcaccctgcaagtgacaca	13	7	10	11	0	0	4	0	3	0	1	1	4	1	4	2	2	1	2	2	2	3	1			TCGA-EJ-5498-01A-01D-1576-08	TCGA-EJ-5498-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b4e02da-87be-46e2-b4bd-555ca1440808	b8daddf3-4dbc-47b1-b5bf-777c46131bb8	g.chrX:11204545T>C	ENST00000337414.4	-	5	1956	c.1084A>G	c.(1084-1086)Atg>Gtg	p.M362V	ARHGAP6_ENST00000534860.1_Missense_Mutation_p.M187V|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.M159V|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.M171V|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.M159V|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.M362V|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.M394V	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	362					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity	p.M362V(2)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TCCACTGACATGGCACCCTGC	0.443													58	123					0	0	0.139131	0	0	C	11204545	T	C	11204545	3	2	37	1	0	0	0	0	1	0	0	0	884	1464	51	3	1998	3	ARHGAP6	23	11204545	Missense_Mutation	SNP	T	TCGA-EJ-5498-01A-01D-1576-08		11204545	144066015	46	2071											
CSMD2	114784	broad.mit.edu	37	chr1	34015923	34015923	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagacatctgggagtgaggcGgggagcccggatggccacag	9	4	18	10	2	1	2	0	1	1	1	1	5	1	5	2	6	1	0	2	6	0	0			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr1:34015923G>A	ENST00000373381.4	-	56	8947	c.8771C>T	c.(8770-8772)cCg>cTg	p.P2924L		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2899	Sushi 21.					integral to membrane|plasma membrane	protein binding	p.P2780L(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGAGTGAGGCGGGGAGCCCGG	0.572													23	92					0	0	1	0	0	A	34015923	G	A	34015923	3	1	38	1	0	0	0	0	1	0	0	0	3970	1116	39	1	2184	1	CSMD2	1	34015923	Missense_Mutation	SNP	G	TCGA-EJ-5499-01A-01D-1576-08		34015923	215234698	1	2072											
KPRP	448834	broad.mit.edu	37	chr1	152732100	152732100	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagatccagtgccgcctgccGctccaacagtgctgcgtcaa	8	7	10	16	3	1	1	1	0	0	1	3	1	3	1	5	0	5	2	5	0	2	0			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr1:152732100G>A	ENST00000368773.1	+	2	94	c.36G>A	c.(34-36)ccG>ccA	p.P12P	KPRP_ENST00000606109.1_Silent_p.P12P	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	12	Gln-rich.					cytoplasm		p.P12P(2)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCGCCTGCCGCTCCAACAGT	0.582													28	92					0	0	1	0	0	A	152732100	G	A	152732100	2	1	38	1	0	0	0	0	0	0	0	1	8479	1074	38	1		1	KPRP	1	152732100	Silent	SNP	G	TCGA-EJ-5499-01A-01D-1576-08	118716177	152732100	96518521	2	2073											
SNTG2	54221	broad.mit.edu	37	chr2	1133461	1133461	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtcatctgttcaggttaatgGcatacatgtagaaaatgcaa	14	12	9	6	0	3	1	2	0	1	1	3	1	3	1	0	2	2	5	0	2	6	4			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr2:1133461G>A	ENST00000308624.5	+	6	506	c.377G>A	c.(376-378)gGc>gAc	p.G126D	SNTG2_ENST00000407292.1_Intron	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	126	PDZ.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	p.G126D(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CAGGTTAATGGCATACATGTA	0.269													19	157					0	0	1	0	0	A	1133461	G	A	1133461	3	1	38	1	0	0	0	0	1	0	0	0	14929	1203	42	2	399	2	SNTG2	2	1133461	Missense_Mutation	SNP	G	TCGA-EJ-5499-01A-01D-1576-08		1133461	242065912	3	2074											
SCN2A	6326	broad.mit.edu	37	chr2	166165901	166165901	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacctgggcaatgtctcagcGttgagaacattcagagttct	10	11	11	9	1	3	2	2	1	2	2	4	4	3	2	1	1	2	3	1	1	2	3			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr2:166165901G>A	ENST00000375437.2	+	6	935	c.645G>A	c.(643-645)gcG>gcA	p.A215A	SCN2A_ENST00000375427.2_Intron|SCN2A_ENST00000357398.3_Intron|SCN2A_ENST00000283256.6_Silent_p.A215A	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	215					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.A215A(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	ATGTCTCAGCGTTGAGAACAT	0.438													7	114					0	0	1	0	0	A	166165901	G	A	166165901	2	1	38	1	0	0	0	0	0	0	0	1	13970	1132	40	1		1	SCN2A	2	166165901	Silent	SNP	G	TCGA-EJ-5499-01A-01D-1576-08	165032440	166165901	77033472	4	2075											
TNS1	7145	broad.mit.edu	37	chr2	218679689	218679689	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttagaagtgtcctggacaaActtcactttagcccgcgtct	9	12	8	12	2	2	1	1	0	1	1	3	2	3	2	2	1	2	0	2	1	4	4			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr2:218679689A>C	ENST00000171887.4	-	25	4815	c.4363T>G	c.(4363-4365)Ttt>Gtt	p.F1455V	TNS1_ENST00000419504.1_Missense_Mutation_p.F1442V|TNS1_ENST00000430930.1_Missense_Mutation_p.F1434V	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1455						cytoplasm|cytoskeleton|focal adhesion	actin binding	p.F1455V(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TCCTGGACAAACTTCACTTTA	0.498													16	34					0	0	1	0	0	C	218679689	A	C	218679689	3	2	38	1	0	0	0	0	1	0	0	0	16403	43	2	5	880	5	TNS1	2	218679689	Missense_Mutation	SNP	A	TCGA-EJ-5499-01A-01D-1576-08	52513788	218679689	24519684	5	2076											
CPNE9	151835	broad.mit.edu	37	chr3	9771302	9771302	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcagctgctgtcctatatgCgcaccagagacatccagcct	10	8	9	14	1	0	1	0	0	0	1	2	2	2	1	4	0	5	4	4	0	2	2			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr3:9771302C>T	ENST00000383832.3	+	21	1778	c.1588C>T	c.(1588-1590)Cgc>Tgc	p.R530C		NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	530								p.R530C(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					GTCCTATATGCGCACCAGAGA	0.627													14	78					0	0	1	0	0	T	9771302	C	T	9771302	3	4	38	1	0	0	0	0	1	0	0	0	3842	768	27	1	1666	1	CPNE9	3	9771302	Missense_Mutation	SNP	C	TCGA-EJ-5499-01A-01D-1576-08		9771302	188251128	6	2077											
SMC4	10051	broad.mit.edu	37	chr3	160141224	160141224	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tacttttagatggctgtatgGgcgaaaaagatgaccgaaat	14	11	11	5	2	0	3	0	1	0	2	0	5	0	3	1	2	1	2	1	2	6	4			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr3:160141224G>C	ENST00000357388.3	+	14	2482	c.2031G>C	c.(2029-2031)tgG>tgC	p.W677C	SMC4_ENST00000344722.5_Missense_Mutation_p.W677C|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000462787.1_Missense_Mutation_p.W677C|SMC4_ENST00000469762.1_Missense_Mutation_p.W652C|SMC4_ENST00000360111.2_Missense_Mutation_p.W677C	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	677	Flexible hinge.				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TGGCTGTATGGGCGAAAAAGA	0.279													4	253					0	0	1	0	0	C	160141224	G	C	160141224	3	2	38	1	0	0	0	0	1	0	0	0	14839	1241	43	4	2081	4	SMC4	3	160141224	Missense_Mutation	SNP	G	TCGA-EJ-5499-01A-01D-1576-08	150369922	160141224	37881206	7	2078											
MFN1	55669	broad.mit.edu	37	chr3	179069810	179069810	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctcggagacacatgaaggtgGcattttttggcaggtaatta	11	12	12	6	1	0	2	0	1	0	1	1	3	0	2	0	5	0	3	0	5	3	5			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr3:179069810G>A	ENST00000471841.1	+	3	361	c.235G>A	c.(235-237)Gca>Aca	p.A79T	MFN1_ENST00000280653.7_Missense_Mutation_p.A79T|MFN1_ENST00000263969.5_Missense_Mutation_p.A79T	NM_033540.2	NP_284941.2	Q8IWA4	MFN1_HUMAN	mitofusin 1	79					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			CATGAAGGTGGCATTTTTTGG	0.378													6	466					0	0	1	0	0	A	179069810	G	A	179069810	3	1	38	1	0	0	0	0	1	0	0	0	9573	1203	42	2	241	2	MFN1	3	179069810	Missense_Mutation	SNP	G	TCGA-EJ-5499-01A-01D-1576-08	18928586	179069810	18952620	8	2079											
DCHS2	54798	broad.mit.edu	37	chr4	155254246	155254246	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgcccgcgcccaggctgccGttgaggaacagcacccccag	7	4	12	18	4	0	1	0	1	0	0	1	2	0	2	5	2	3	3	5	2	1	1			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr4:155254246G>A	ENST00000357232.3	-	9	1616	c.1617C>T	c.(1615-1617)aaC>aaT	p.N539N	DCHS2_ENST00000339452.1_Silent_p.N1038N|DCHS2_ENST00000507542.1_5'UTR	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	539	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.N1038N(1)|p.N539N(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CCAGGCTGCCGTTGAGGAACA	0.672													4	49					0	0	1	0	0	A	155254246	G	A	155254246	2	1	38	1	0	0	0	0	0	0	0	1	4311	1136	40	1		1	DCHS2	4	155254246	Silent	SNP	G	TCGA-EJ-5499-01A-01D-1576-08		155254246	35900030	9	2080											
ADAM29	11086	broad.mit.edu	37	chr4	175898106	175898106	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttcccataagtgcccagAtgacttttatgtggaagatg	11	13	9	8	0	0	3	0	1	0	2	1	4	1	4	2	1	2	0	2	1	4	5			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr4:175898106A>G	ENST00000359240.3	+	5	2100	c.1430A>G	c.(1429-1431)gAt>gGt	p.D477G	ADAM29_ENST00000445694.1_Missense_Mutation_p.D477G|ADAM29_ENST00000514159.1_Missense_Mutation_p.D477G|ADAM29_ENST00000404450.4_Missense_Mutation_p.D477G	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	477	Disintegrin.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	p.D477G(2)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AAGTGCCCAGATGACTTTTAT	0.448													40	159					0	0	1	0	0	G	175898106	A	G	175898106	3	3	38	1	0	0	0	0	1	0	0	0	246	333	12	3	1432	3	ADAM29	4	175898106	Missense_Mutation	SNP	A	TCGA-EJ-5499-01A-01D-1576-08	20643860	175898106	15256170	10	2081											
SLC12A7	10723	broad.mit.edu	37	chr5	1081839	1081839	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaaacgcccccgcgtgcgCgtacgtactccacaggttct	8	7	9	17	6	1	0	0	0	1	0	2	0	2	0	3	1	4	3	3	1	3	3			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr5:1081839C>A	ENST00000264930.5	-	9	1193	c.1150G>T	c.(1150-1152)Gcg>Tcg	p.A384S		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	384					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	CCCGCGTGCGCGTACGTACTC	0.667													3	99					1	1	1	1	0	A	1081839	C	A	1081839	3	1	38	1	0	0	0	0	1	0	0	0	14443	768	27	4	2165	4	SLC12A7	5	1081839	Missense_Mutation	SNP	C	TCGA-EJ-5499-01A-01D-1576-08		1081839	179833421	11	2082											
PLCXD3	345557	broad.mit.edu	37	chr5	41382213	41382213	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	actttaaactaacttcctggGcaaaaatcgctgggcacatt	13	11	7	10	1	0	0	0	0	0	0	2	0	1	0	1	2	2	3	1	2	5	5			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr5:41382213G>A	ENST00000377801.3	-	2	601	c.527C>T	c.(526-528)gCc>gTc	p.A176V	PLCXD3_ENST00000328457.3_Missense_Mutation_p.A176V			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	176	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						AACTTCCTGGGCAAAAATCGC	0.448													6	364					0	0	1	0	0	A	41382213	G	A	41382213	3	1	38	1	0	0	0	0	1	0	0	0	12091	1203	42	2	446	2	PLCXD3	5	41382213	Missense_Mutation	SNP	G	TCGA-EJ-5499-01A-01D-1576-08	40300374	41382213	139533047	12	2083											
PCDHB10	0	broad.mit.edu	37	chr5	140573541	140573541	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccgccctgcacatcggcagCgtcagcgccacagacagaga	10	3	11	17	4	1	2	1	0	0	2	2	3	1	2	3	1	3	2	3	1	0	0	rs17844565	byFrequency	TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr5:140573541C>T	ENST00000239446.4	+	1	1600	c.1416C>T	c.(1414-1416)agC>agT	p.S472S		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		472	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.S472S(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACATCGGCAGCGTCAGCGCCA	0.662													6	111					0	0	1	0	0	T	140573541	C	T	140573541	2	4	38	1	0	0	0	0	0	0	0	1	11582	767	27	1		1	PCDHB10	5	140573541	Silent	SNP	C	TCGA-EJ-5499-01A-01D-1576-08	99191328	140573541	40341719	13	2084											
PCDHGC5	0	broad.mit.edu	37	chr5	140870417	140870417	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagattgtggtgggggttcGagactccggctctcccccat	5	10	14	12	2	1	2	0	0	1	2	4	3	2	2	3	4	0	3	3	4	0	2			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr5:140870417G>A	ENST00000252087.1	+	1	1610	c.1610G>A	c.(1609-1611)cGa>cAa	p.R537Q	PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB7_ENST00000398594.2_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN		537	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R537P(2)|p.R537Q(2)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGGGGTTCGAGACTCCGGC	0.537													37	109					0	0	1	0	0	A	140870417	G	A	140870417	3	1	38	1	0	0	0	0	1	0	0	0	11618	1058	37	1	1612	1	PCDHGC5	5	140870417	Missense_Mutation	SNP	G	TCGA-EJ-5499-01A-01D-1576-08	296876	140870417	40044843	14	2085											
CSF1R	1436	broad.mit.edu	37	chr5	149460527	149460527	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccacacatcgcaaggtcaccGttgctcctggcttcacgacc	8	8	8	17	3	2	0	2	0	0	0	4	1	3	0	4	2	1	4	4	2	1	2	rs139635308		TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr5:149460527G>A	ENST00000286301.3	-	3	401	c.110C>T	c.(109-111)aCg>aTg	p.T37M	CSF1R_ENST00000543093.1_Missense_Mutation_p.T37M	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	37	Ig-like C2-type 1.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity	p.T37M(3)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	CAAGGTCACCGTTGCTCCTGG	0.597													14	43					0	0	1	0	0	A	149460527	G	A	149460527	3	1	38	1	0	0	0	0	1	0	0	0	3957	1145	40	1	2888	1	CSF1R	5	149460527	Missense_Mutation	SNP	G	TCGA-EJ-5499-01A-01D-1576-08	8590110	149460527	31454733	15	2086											
FKBP5	2289	broad.mit.edu	37	chr6	35588018	35588018	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctcctttcttcatggtaGccaccccaatgtcccatgcc	6	13	5	17	0	3	0	1	0	2	0	6	0	5	0	6	1	2	1	6	1	2	3			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr6:35588018G>A	ENST00000542713.1	-	4	441	c.284C>T	c.(283-285)gCt>gTt	p.A95V	FKBP5_ENST00000357266.4_Missense_Mutation_p.A95V|FKBP5_ENST00000540787.1_Intron|FKBP5_ENST00000539068.1_Missense_Mutation_p.A95V|FKBP5_ENST00000536438.1_Missense_Mutation_p.A95V	NM_001145777.1	NP_001139249.1	Q13451	FKBP5_HUMAN	FK506 binding protein 5	95	PPIase FKBP-type 1.				protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity	p.A95V(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						CTTCATGGTAGCCACCCCAAT	0.423													45	137					0	0	1	0	0	A	35588018	G	A	35588018	3	1	38	1	0	0	0	0	1	0	0	0	5944	971	34	2	1179	2	FKBP5	6	35588018	Missense_Mutation	SNP	G	TCGA-EJ-5499-01A-01D-1576-08		35588018	135527049	16	2087											
DNAH8	1769	broad.mit.edu	37	chr6	38816530	38816530	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacagaacctttgggtttatCttgaagccgtctttgtaggt	8	16	10	7	1	2	2	0	1	2	1	2	2	2	2	2	2	3	2	2	2	5	7			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr6:38816530C>T	ENST00000359357.3	+	35	4755	c.4501C>T	c.(4501-4503)Ctt>Ttt	p.L1501F	DNAH8_ENST00000449981.2_Missense_Mutation_p.L1718F|DNAH8_ENST00000441566.1_Missense_Mutation_p.L1501F					dynein, axonemal, heavy chain 8									p.L1501F(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTGGGTTTATCTTGAAGCCGT	0.358													16	177					0	0	1	0	0	T	38816530	C	T	38816530	3	4	38	1	0	0	0	0	1	0	0	0	4634	913	32	2	4631	2	DNAH8	6	38816530	Missense_Mutation	SNP	C	TCGA-EJ-5499-01A-01D-1576-08	3228512	38816530	132298537	17	2088											
ROS1	6098	broad.mit.edu	37	chr6	117645561	117645561	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaagtatgaaacttgtttCtggtatccaaaaatcatcta	15	14	6	6	0	3	1	1	1	2	0	4	1	4	1	1	1	1	4	1	1	7	6			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr6:117645561C>A	ENST00000368508.3	-	34	5773	c.5575G>T	c.(5575-5577)Gaa>Taa	p.E1859*	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Nonsense_Mutation_p.E1853*	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1859					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AAACTTGTTTCTGGTATCCAA	0.294			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								4	108					1	1	1	1	0	A	117645561	C	A	117645561	4	1	38	1	0	0	0	0	0	1	0	0	13583	922	32	4	1508	4	ROS1	6	117645561	Nonsense_Mutation	SNP	C	TCGA-EJ-5499-01A-01D-1576-08	78829031	117645561	53469506	18	2089											
AKAP7	9465	broad.mit.edu	37	chr6	131490307	131490307	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagaagaactcctccagggAaaacatttgactttgccctt	13	11	7	10	0	0	3	0	1	0	2	2	4	2	4	3	1	3	0	3	1	5	4			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr6:131490307A>G	ENST00000431975.2	+	5	581	c.483A>G	c.(481-483)ggA>ggG	p.G161G	AKAP7_ENST00000368123.4_Silent_p.G139G|AKAP7_ENST00000366358.2_Intron|AKAP7_ENST00000541650.1_Silent_p.G160G	NM_016377.3	NP_057461.2	O43687	AKA7A_HUMAN	A kinase (PRKA) anchor protein 7	0					intracellular signal transduction|ion transport	apical plasma membrane|intracellular|lateral plasma membrane	protein kinase A binding	p.G139G(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		TCCTCCAGGGAAAACATTTGA	0.353													61	211					0	0	1	0	0	G	131490307	A	G	131490307	2	3	38	1	0	0	0	0	0	0	0	1	453	233	9	3		3	AKAP7	6	131490307	Silent	SNP	A	TCGA-EJ-5499-01A-01D-1576-08	13844746	131490307	39624760	19	2090											
FBXO5	26271	broad.mit.edu	37	chr6	153292428	153292428	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacagagacacttcgtacaaTaatcaaatccacagccttct	15	10	4	12	1	2	1	1	0	1	1	4	2	3	1	2	0	3	1	2	0	5	5			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr6:153292428T>C	ENST00000367241.3	-	5	1456	c.1076A>G	c.(1075-1077)tAt>tGt	p.Y359C	FBXO5_ENST00000477822.1_5'UTR|FBXO5_ENST00000229758.3_Missense_Mutation_p.Y405C	NM_001142522.1	NP_001135994.1	Q9UKT4	FBX5_HUMAN	F-box protein 5	405					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm|spindle	metal ion binding|protein binding	p.Y405C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	15		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.38e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0893)		CTTCGTACAATAATCAAATCC	0.418													18	148					0	0	1	0	0	C	153292428	T	C	153292428	3	2	38	1	0	0	0	0	1	0	0	0	5791	1406	49	3	133	3	FBXO5	6	153292428	Missense_Mutation	SNP	T	TCGA-EJ-5499-01A-01D-1576-08	21802121	153292428	17822639	20	2091											
ADAM2	2515	broad.mit.edu	37	chr8	39645632	39645632	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaatgccacatcatgaggacGtaaaacaagataagatgttt	18	9	8	6	1	1	3	1	1	0	2	1	4	1	4	1	1	2	2	1	1	5	3			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr8:39645632G>A	ENST00000265708.4	-	9	884	c.781C>T	c.(781-783)Cgt>Tgt	p.R261C	ADAM2_ENST00000521880.1_Missense_Mutation_p.R261C|ADAM2_ENST00000347580.4_Missense_Mutation_p.R242C|ADAM2_ENST00000379853.2_Intron	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	261	Peptidase M12B.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TCATGAGGACGTAAAACAAGA	0.303													4	159					0	0	1	0	0	A	39645632	G	A	39645632	3	1	38	1	0	0	0	0	1	0	0	0	240	1145	40	1	1474	1	ADAM2	8	39645632	Missense_Mutation	SNP	G	TCGA-EJ-5499-01A-01D-1576-08		39645632	106718390	21	2092											
ZFPM2	23414	broad.mit.edu	37	chr8	106811063	106811063	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagagaagctgctccggtgtCagaggaaaatgaagacagtg	15	6	14	6	1	1	4	1	1	0	3	2	6	2	5	1	2	2	2	1	2	5	0			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr8:106811063C>T	ENST00000407775.2	+	7	1101	c.851C>T	c.(850-852)tCa>tTa	p.S284L	RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.S15L|ZFPM2_ENST00000517361.1_Missense_Mutation_p.S152L|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000520492.1_Missense_Mutation_p.S152L|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	284					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	p.S284L(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GCTCCGGTGTCAGAGGAAAAT	0.527													47	133					0	0	1	0	0	T	106811063	C	T	106811063	3	4	38	1	0	0	0	0	1	0	0	0	17716	838	29	2	877	2	ZFPM2	8	106811063	Missense_Mutation	SNP	C	TCGA-EJ-5499-01A-01D-1576-08	67165431	106811063	39552959	22	2093											
PTPRD	5789	broad.mit.edu	37	chr9	8485768	8485768	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cagacaaatcctaccttgatCcacaggcagtgtcctgaact	12	9	7	13	0	0	3	0	2	0	1	3	3	3	3	4	1	2	1	4	1	3	2			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr9:8485768C>G	ENST00000381196.4	-	25	3592	c.3049G>C	c.(3049-3051)Gat>Cat	p.D1017H	PTPRD_ENST00000540109.1_Missense_Mutation_p.D1017H|PTPRD_ENST00000360074.4_Missense_Mutation_p.D1004H|PTPRD_ENST00000358503.5_Missense_Mutation_p.D995H|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000356435.5_Missense_Mutation_p.D1017H|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000397617.3_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1017	Fibronectin type-III 8.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.D1017H(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CTACCTTGATCCACAGGCAGT	0.448										TSP Lung(15;0.13)			17	44					0	0	1	0	0	G	8485768	C	G	8485768	3	3	38	1	0	0	0	0	1	0	0	0	12851	855	30	4	2833	4	PTPRD	9	8485768	Missense_Mutation	SNP	C	TCGA-EJ-5499-01A-01D-1576-08		8485768	132727663	23	2094											
FRMPD2	143162	broad.mit.edu	37	chr10	49457141	49457141	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaggagcagcctctatatGagaaacacggccttggaaag	15	6	12	8	1	1	1	0	1	1	1	1	5	1	3	2	3	3	1	2	3	5	3			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr10:49457141G>T	ENST00000374201.3	-	3	534	c.232C>A	c.(232-234)Cat>Aat	p.H78N	FRMPD2_ENST00000305531.3_Missense_Mutation_p.H76N|FRMPD2_ENST00000407470.4_Missense_Mutation_p.H69N	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	78	KIND.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	p.H78N(1)		NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		GCCTCTATATGAGAAACACGG	0.532													17	45					1.64113e-05	1.94711e-05	1	1	0	T	49457141	G	T	49457141	3	4	38	1	0	0	0	0	1	0	0	0	6093	1290	45	4	3805	4	FRMPD2	10	49457141	Missense_Mutation	SNP	G	TCGA-EJ-5499-01A-01D-1576-08		49457141	86077606	24	2095											
LTBR	4055	broad.mit.edu	37	chr12	6495568	6495568	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcactgcccagtccgacacaAcctgcaaaaatccattagag	14	6	7	14	1	0	1	0	0	0	1	2	2	2	1	4	0	3	2	4	0	4	1			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr12:6495568A>G	ENST00000228918.4	+	6	951	c.625A>G	c.(625-627)Acc>Gcc	p.T209A	LTBR_ENST00000541102.1_Missense_Mutation_p.T102A|LTBR_ENST00000539925.1_Missense_Mutation_p.T190A|LTBR_ENST00000543190.1_Silent_p.Q69Q	NM_002342.1	NP_002333.1	P36941	TNR3_HUMAN	lymphotoxin beta receptor (TNFR superfamily, member 3)	209					apoptosis|cellular response to mechanical stimulus|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	protein binding|receptor activity	p.T209A(2)		breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						GTCCGACACAACCTGCAAAAA	0.577													11	29					0	0	1	0	0	G	6495568	A	G	6495568	3	3	38	1	0	0	0	0	1	0	0	0	9122	43	2	3	647	3	LTBR	12	6495568	Missense_Mutation	SNP	A	TCGA-EJ-5499-01A-01D-1576-08		6495568	127356327	25	2096											
CLEC1A	51267	broad.mit.edu	37	chr12	10234003	10234003	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagtattggagagctggtagTactgaaaaactaacccaaat	16	9	9	7	0	0	2	0	1	0	1	0	3	0	2	1	2	4	4	1	2	7	5			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr12:10234003T>A	ENST00000315330.4	-	3	286	c.224A>T	c.(223-225)tAc>tTc	p.Y75F	CLEC1A_ENST00000420265.2_Intron|CLEC1A_ENST00000457018.2_Missense_Mutation_p.Y42F	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN	C-type lectin domain family 1, member A	75					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity	p.Y75F(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						GAGCTGGTAGTACTGAAAAAC	0.363													30	103					0	0	1	0	0	A	10234003	T	A	10234003	3	1	38	1	0	0	0	0	1	0	0	0	3528	1638	57	5	634	5	CLEC1A	12	10234003	Missense_Mutation	SNP	T	TCGA-EJ-5499-01A-01D-1576-08	3738435	10234003	123617892	26	2097											
ARHGDIB	397	broad.mit.edu	37	chr12	15102816	15102816	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caacgacattgggggctttcGgatctgcaggatcgaaaggg	10	8	15	8	3	1	0	0	0	1	0	3	4	1	2	0	5	2	2	0	5	2	2			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr12:15102816G>A	ENST00000228945.4	-	3	329	c.185C>T	c.(184-186)cCg>cTg	p.P62L	ARHGDIB_ENST00000541546.1_Missense_Mutation_p.P62L|ARHGDIB_ENST00000541644.1_Missense_Mutation_p.P62L	NM_001175.4	NP_001166.3	P52566	GDIR2_HUMAN	Rho GDP dissociation inhibitor (GDI) beta	62					actin cytoskeleton organization|cellular component movement|immune response|multicellular organismal development|negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoplasmic membrane-bounded vesicle|cytoskeleton|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity	p.P62L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	15						GGGGGCTTTCGGATCTGCAGG	0.483													28	109					0	0	1	0	0	A	15102816	G	A	15102816	3	1	38	1	0	0	0	0	1	0	0	0	888	1116	39	1	436	1	ARHGDIB	12	15102816	Missense_Mutation	SNP	G	TCGA-EJ-5499-01A-01D-1576-08	4868813	15102816	118749079	27	2098											
KRT6C	286887	broad.mit.edu	37	chr12	52863634	52863634	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgagtgccatctccccaCgctgctcagcatcagcaatg	8	9	8	16	1	3	1	2	1	1	0	4	1	3	1	4	0	4	4	4	0	1	1			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr12:52863634C>T	ENST00000252250.6	-	7	1291	c.1244G>A	c.(1243-1245)cGt>cAt	p.R415H		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	415	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity	p.R415H(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		CATCTCCCCACGCTGCTCAGC	0.602													19	75					0	0	1	0	0	T	52863634	C	T	52863634	3	4	38	1	0	0	0	0	1	0	0	0	8525	536	19	1	462	1	KRT6C	12	52863634	Missense_Mutation	SNP	C	TCGA-EJ-5499-01A-01D-1576-08	37760818	52863634	80988261	28	2099											
C12orf63	0	broad.mit.edu	37	chr12	97093817	97093817	+	Frame_Shift_Del	DEL	A	A	-																															atatcccaaattttctatggAaaaaacatgccttgtccaat																										TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr12:97093817delA	ENST00000524981.3	+	13	1773	c.1773delA	c.(1771-1773)ggfs	p.G591fs				Q6ZTY8	CL063_HUMAN		565										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						TTTTCTATGGAAAAAACATGC	0.343													56	247	---	---	---	---						-	97093817	A	-	97093817	7	5	38	1	0	1	0	1	0	0	0	0	1712	233	9	0	1741	0	C12orf63	12	97093817	Frame_Shift_Del	DEL	A	TCGA-EJ-5499-01A-01D-1576-08	44230183	97093817	36758078	29	2100											
RPH3A	22895	broad.mit.edu	37	chr12	113321125	113321125	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcttcgtacaaaaactctgCggaatacccggaaccccatc	13	7	7	14	3	1	0	0	0	1	0	3	2	1	2	3	2	6	2	3	2	6	3			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr12:113321125C>T	ENST00000389385.4	+	16	1851	c.1354C>T	c.(1354-1356)Cgg>Tgg	p.R452W	RPH3A_ENST00000543106.2_Missense_Mutation_p.R452W|RPH3A_ENST00000447659.2_Missense_Mutation_p.R403W|RPH3A_ENST00000415485.3_Missense_Mutation_p.R452W|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000420983.2_Missense_Mutation_p.R452W|RPH3A_ENST00000551052.1_Missense_Mutation_p.R448W|RPH3A_ENST00000548866.1_Missense_Mutation_p.R403W	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)	452	C2 1.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding	p.R448W(1)|p.R452W(1)		breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		AAAAACTCTGCGGAATACCCG	0.562													14	67					0	0	1	0	0	T	113321125	C	T	113321125	3	4	38	1	0	0	0	0	1	0	0	0	13603	759	27	1	1408	1	RPH3A	12	113321125	Missense_Mutation	SNP	C	TCGA-EJ-5499-01A-01D-1576-08	16227308	113321125	20530770	30	2101											
SPTB	6710	broad.mit.edu	37	chr14	65239589	65239589	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgcgtcgatgagtcgctcGatgaaggcattcacattgtc	8	10	11	12	5	1	2	1	2	0	0	5	4	1	2	1	1	0	2	1	1	1	2	rs142168941		TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr14:65239589G>T	ENST00000389722.3	-	25	5315	c.5262C>A	c.(5260-5262)atC>atA	p.I1754I	SPTB_ENST00000389720.3_Silent_p.I1754I|SPTB_ENST00000542895.1_Silent_p.I1754I|SPTB_ENST00000389721.5_Silent_p.I1754I|SPTB_ENST00000556626.1_Silent_p.I1754I	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1754					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	p.I1754I(1)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGAGTCGCTCGATGAAGGCAT	0.637													18	52					1.74485e-21	2.14279e-21	1	1	0	T	65239589	G	T	65239589	2	4	38	1	0	0	0	0	0	0	0	1	15174	1048	37	4		4	SPTB	14	65239589	Silent	SNP	G	TCGA-EJ-5499-01A-01D-1576-08		65239589	42109951	31	2102											
PAPLN	89932	broad.mit.edu	37	chr14	73719443	73719443	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagccacggccagctgacCggcgttcctgcaatcttcac	7	7	10	17	3	2	1	1	1	1	0	3	1	3	1	5	2	3	3	5	2	1	2			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr14:73719443C>T	ENST00000427855.1	+	11	1156	c.1054C>T	c.(1054-1056)Cgg>Tgg	p.R352W	PAPLN_ENST00000381166.3_Missense_Mutation_p.R352W|PAPLN_ENST00000340738.5_Missense_Mutation_p.R325W|PAPLN_ENST00000554301.1_Missense_Mutation_p.R352W|PAPLN_ENST00000555445.1_Missense_Mutation_p.R352W			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	352	TSP type-1 2.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding	p.R352W(1)|p.R325W(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		GCCAGCTGACCGGCGTTCCTG	0.642													39	125					0	0	1	0	0	T	73719443	C	T	73719443	3	4	38	1	0	0	0	0	1	0	0	0	11475	643	23	1	1007	1	PAPLN	14	73719443	Missense_Mutation	SNP	C	TCGA-EJ-5499-01A-01D-1576-08	8479854	73719443	33630097	32	2103											
SLC24A1	9187	broad.mit.edu	37	chr15	65917480	65917480	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccttcacccaggaccagtgtAtcagccatcaaaacagcccc	12	6	6	17	0	3	0	3	0	0	0	3	1	3	1	6	1	3	1	6	1	3	2			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr15:65917480A>G	ENST00000261892.6	+	2	1349	c.1062A>G	c.(1060-1062)gtA>gtG	p.V354V	SLC24A1_ENST00000546330.1_Silent_p.V354V|SLC24A1_ENST00000544319.2_Silent_p.V354V|SLC24A1_ENST00000537259.1_Silent_p.V354V|SLC24A1_ENST00000399033.4_Silent_p.V354V|SLC24A1_ENST00000339868.6_Silent_p.V354V	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	354					response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity	p.V354V(1)		breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GGACCAGTGTATCAGCCATCA	0.552													13	35					0	0	1	0	0	G	65917480	A	G	65917480	2	3	38	1	0	0	0	0	0	0	0	1	14520	436	16	3		3	SLC24A1	15	65917480	Silent	SNP	A	TCGA-EJ-5499-01A-01D-1576-08		65917480	36613912	33	2104											
ITGAL	0	broad.mit.edu	37	chr16	30495266	30495266	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcggccaaagacatcatcCgctacatcatcggggtaggg	11	7	12	11	3	2	1	2	0	0	1	4	1	3	1	2	4	2	2	2	4	3	2			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr16:30495266C>T	ENST00000356798.6	+	8	1021	c.841C>T	c.(841-843)Cgc>Tgc	p.R281C	ITGAL_ENST00000358164.5_Missense_Mutation_p.R198C|RP11-297C4.2_ENST00000569459.1_RNA|ITGAL_ENST00000454514.2_3'UTR|ITGAL_ENST00000433423.2_Intron	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	281	VWFA.				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	p.R281S(1)|p.R281C(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	AGACATCATCCGCTACATCAT	0.587													31	252					0	0	1	0	0	T	30495266	C	T	30495266	3	4	38	1	0	0	0	0	1	0	0	0	7930	652	23	1	871	1	ITGAL	16	30495266	Missense_Mutation	SNP	C	TCGA-EJ-5499-01A-01D-1576-08		30495266	59859487	34	2105											
DDX28	55794	broad.mit.edu	37	chr16	68056489	68056489	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggaaggaacaaggaccaggCctcggggcgcggggatagga	11	2	20	8	3	0	0	0	0	0	0	1	5	0	5	2	9	1	0	2	9	4	1			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr16:68056489C>A	ENST00000332395.5	-	1	1281	c.617G>T	c.(616-618)gGc>gTc	p.G206V		NM_018380.3	NP_060850.2	Q9NUL7	DDX28_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 28	206	Helicase ATP-binding.					mitochondrial nucleoid|nucleus	ATP binding|ATP-dependent helicase activity|RNA binding	p.G206V(2)		central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233)		AAGGACCAGGCCTCGGGGCGC	0.662													6	69					0.00116845	0.00134084	1	1	0	A	68056489	C	A	68056489	3	1	38	1	0	0	0	0	1	0	0	0	4378	739	26	4	1009	4	DDX28	16	68056489	Missense_Mutation	SNP	C	TCGA-EJ-5499-01A-01D-1576-08	37561223	68056489	22298264	35	2106											
TRIM37	4591	broad.mit.edu	37	chr17	57128666	57128666	+	Frame_Shift_Del	DEL	A	A	-																															ggtcccgggatttttgaaagAaagttggtgaacgtacctga																										TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr17:57128666delA	ENST00000376149.3	-	14	1666	c.857delT	c.(856-858)tcfs	p.F287fs	TRIM37_ENST00000393065.2_Frame_Shift_Del_p.F375fs|TRIM37_ENST00000393066.3_Frame_Shift_Del_p.F409fs|TRIM37_ENST00000262294.7_Frame_Shift_Del_p.F409fs			O94972	TRI37_HUMAN	tripartite motif containing 37	409	MATH.					perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TTTTTGAAAGAAAGTTGGTGA	0.338									Mulibrey Nanism				32	127	---	---	---	---						-	57128666	A	-	57128666	7	5	38	1	0	1	0	1	0	0	0	0	16572	246	9	0	1723	0	TRIM37	17	57128666	Frame_Shift_Del	DEL	A	TCGA-EJ-5499-01A-01D-1576-08		57128666	24066544	36	2107											
ST8SIA3	51046	broad.mit.edu	37	chr18	55024179	55024179	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcatgtcgatgtaataaaaaAtttttctttgaccaagaata	16	14	6	5	1	1	2	0	1	1	1	2	3	1	2	1	0	0	2	1	0	7	6			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr18:55024179A>T	ENST00000324000.3	+	3	2372	c.338A>T	c.(337-339)aAt>aTt	p.N113I		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	113					glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	p.N113I(1)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		GTAATAAAAAATTTTTCTTTG	0.318													35	146					0	0	1	0	0	T	55024179	A	T	55024179	3	4	38	1	0	0	0	0	1	0	0	0	15289	101	4	5	348	5	ST8SIA3	18	55024179	Missense_Mutation	SNP	A	TCGA-EJ-5499-01A-01D-1576-08		55024179	23053069	37	2108											
TMEM205	374882	broad.mit.edu	37	chr19	11453676	11453676	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggtggctgcctggtacctCcccacccaggcctcgctcct	3	9	10	19	1	0	0	0	0	0	0	3	0	2	0	7	4	2	3	7	4	1	1			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr19:11453676C>A	ENST00000354882.5	-	3	811	c.385G>T	c.(385-387)Gag>Tag	p.E129*	RAB3D_ENST00000589655.1_Intron|TMEM205_ENST00000589555.1_Nonsense_Mutation_p.E129*|TMEM205_ENST00000586218.1_Nonsense_Mutation_p.E68*|TMEM205_ENST00000593256.2_Nonsense_Mutation_p.E129*|TMEM205_ENST00000447337.1_Nonsense_Mutation_p.E129*|TMEM205_ENST00000586956.1_Nonsense_Mutation_p.E129*|TMEM205_ENST00000587948.1_Nonsense_Mutation_p.E129*|TMEM205_ENST00000586590.1_Nonsense_Mutation_p.E129*|TMEM205_ENST00000588560.1_Nonsense_Mutation_p.E129*			Q6UW68	TM205_HUMAN	transmembrane protein 205	129						integral to membrane				endometrium(1)|lung(1)	2						CCTGGTACCTCCCCACCCAGG	0.647													4	135					0.150653	0.164777	1	1	0	A	11453676	C	A	11453676	4	1	38	1	0	0	0	0	0	1	0	0	16190	864	30	4	188	4	TMEM205	19	11453676	Nonsense_Mutation	SNP	C	TCGA-EJ-5499-01A-01D-1576-08		11453676	47675307	38	2109											
ZNF43	7594	broad.mit.edu	37	chr19	22001955	22001955	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctatataaattctgctgTgcaatgtccaggcattgcca	10	14	7	10	0	1	0	0	0	1	0	3	0	3	0	3	1	3	3	3	1	5	6			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr19:22001955T>G	ENST00000594012.1	-	5	568	c.54A>C	c.(52-54)gcA>gcC	p.A18A	ZNF43_ENST00000354959.4_Silent_p.A24A|ZNF43_ENST00000598381.1_Silent_p.A18A|ZNF43_ENST00000598288.1_Silent_p.A18A|ZNF43_ENST00000595461.1_Silent_p.A18A	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	24	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A24A(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		AATTCTGCTGTGCAATGTCCA	0.398													74	236					0	0	1	0	0	G	22001955	T	G	22001955	2	3	38	1	0	0	0	0	0	0	0	1	17960	1683	59	5		5	ZNF43	19	22001955	Silent	SNP	T	TCGA-EJ-5499-01A-01D-1576-08	10548279	22001955	37127028	39	2110											
CEACAM3	1084	broad.mit.edu	37	chr19	42301582	42301582	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcactattgaatccatgccGctcagtgtcgcagaggggaa	10	9	11	11	2	2	2	2	1	0	1	4	3	3	3	2	2	1	2	2	2	3	2			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr19:42301582G>A	ENST00000357396.3	+	2	367	c.126G>A	c.(124-126)ccG>ccA	p.P42P	CEACAM3_ENST00000221999.4_Silent_p.P42P|CEACAM3_ENST00000595255.1_3'UTR|CEACAM3_ENST00000344550.4_Silent_p.P42P	NM_001815.2	NP_001806.2	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 3	42	Ig-like V-type.					integral to membrane		p.P42P(1)		endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						AATCCATGCCGCTCAGTGTCG	0.522													62	174					0	0	1	0	0	A	42301582	G	A	42301582	2	1	38	1	0	0	0	0	0	0	0	1	3215	1074	38	1		1	CEACAM3	19	42301582	Silent	SNP	G	TCGA-EJ-5499-01A-01D-1576-08	20299627	42301582	16827401	40	2111											
LILRA1	11024	broad.mit.edu	37	chr19	55106788	55106788	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcccgagtcgcaggtggtcGtacaggtgctatgcttatga	8	10	14	9	3	0	1	0	1	0	0	2	2	0	1	1	3	4	4	1	3	3	3	rs112681015	byFrequency	TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr19:55106788G>A	ENST00000453777.1	+	5	752	c.582G>A	c.(580-582)tcG>tcA	p.S194S	LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000251372.3_Silent_p.S194S|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000473156.1_3'UTR	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	194	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	p.S194S(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GCAGGTGGTCGTACAGGTGCT	0.572													52	186					0	0	1	0	0	A	55106788	G	A	55106788	2	1	38	1	0	0	0	0	0	0	0	1	8824	1132	40	1		1	LILRA1	19	55106788	Silent	SNP	G	TCGA-EJ-5499-01A-01D-1576-08	12805206	55106788	4022195	41	2112											
A1BG	1	broad.mit.edu	37	chr19	58862934	58862934	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagctctttctccccgcGccgtagctggaagtccactc	6	9	9	17	3	2	0	0	0	2	0	5	1	3	1	4	1	3	4	4	1	2	2			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr19:58862934G>A	ENST00000263100.3	-	5	794	c.733C>T	c.(733-735)Cgc>Tgc	p.R245C	A1BG-AS1_ENST00000599728.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000600379.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein	245	Ig-like V-type 3.					extracellular region		p.R245C(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		TTCTCCCCGCGCCGTAGCTGG	0.627													10	47					0	0	1	0	0	A	58862934	G	A	58862934	3	1	38	1	0	0	0	0	1	0	0	0	1	1087	38	1	770	1	A1BG	19	58862934	Missense_Mutation	SNP	G	TCGA-EJ-5499-01A-01D-1576-08	3756146	58862934	266049	42	2113											
DGCR14	8220	broad.mit.edu	37	chr22	19121828	19121828	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggcgccggtgtgcttgtggGggtctgcagcccactggccg	3	8	18	12	3	1	0	0	0	1	0	1	0	1	0	3	5	3	2	3	5	0	1			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr22:19121828G>A	ENST00000252137.6	-	10	1355	c.1312C>T	c.(1312-1314)Ccc>Tcc	p.P438S		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	438					nervous system development	catalytic step 2 spliceosome		p.P438S(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					GTGCTTGTGGGGGTCTGCAGC	0.692													16	35					0	0	1	0	0	A	19121828	G	A	19121828	3	1	38	1	0	0	0	0	1	0	0	0	4488	1232	43	2	122	2	DGCR14	22	19121828	Missense_Mutation	SNP	G	TCGA-EJ-5499-01A-01D-1576-08		19121828	32182738	43	2114											
DGCR14	8220	broad.mit.edu	37	chr22	19132152	19132152	+	Translation_Start_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatgcgcccggcgtctccAtcgctatcccaggaaaaagc	9	7	10	15	4	1	1	0	1	1	0	4	2	2	2	3	2	2	1	3	2	3	1			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chr22:19132152A>T	ENST00000252137.6	-	1	45	c.2T>A	c.(1-3)aTg>aAg	p.M1K		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	1					nervous system development	catalytic step 2 spliceosome		p.M1K(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					CGGCGTCTCCATCGCTATCCC	0.682													3	9					0	0	1	0	0	T	19132152	A	T	19132152	1	4	38	1	0	0	0	0	0	0	0	0	4488	217	8	5		5	DGCR14	22	19132152	Translation_Start_Site	SNP	A	TCGA-EJ-5499-01A-01D-1576-08	10324	19132152	32172414	44	2115											
CSF2RA	0	broad.mit.edu	37	chrX	1407464	1407464	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgaaatttgtctgcatgaagGagtcacatttgaggttcacg	11	13	11	6	1	3	3	2	3	1	0	3	4	3	4	0	2	1	2	0	2	2	3			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chrX:1407464G>T	ENST00000381524.3	+	5	458	c.272G>T	c.(271-273)gGa>gTa	p.G91V	CSF2RA_ENST00000361536.3_Missense_Mutation_p.G91V|CSF2RA_ENST00000355432.3_Missense_Mutation_p.G91V|CSF2RA_ENST00000417535.2_Missense_Mutation_p.G91V|CSF2RA_ENST00000381500.1_Missense_Mutation_p.G91V|CSF2RA_ENST00000355805.2_Missense_Mutation_p.G91V|CSF2RA_ENST00000501036.2_5'UTR|CSF2RA_ENST00000381509.3_Missense_Mutation_p.G91V|CSF2RA_ENST00000381529.3_Missense_Mutation_p.G91V|CSF2RA_ENST00000432318.2_Missense_Mutation_p.G91V			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	91						extracellular region|integral to plasma membrane	cytokine receptor activity	p.G91V(2)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CTGCATGAAGGAGTCACATTT	0.418													146	521					3.67666e-70	4.59582e-70	1	1	0	T	1407464	G	T	1407464	3	4	38	1	0	0	0	0	1	0	0	0	3959	1174	41	4	282	4	CSF2RA	23	1407464	Missense_Mutation	SNP	G	TCGA-EJ-5499-01A-01D-1576-08		1407464	153863096	45	2116											
SHROOM4	57477	broad.mit.edu	37	chrX	50378349	50378349	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtggcccccattggtgcGccgactacctcctgaggtct	5	9	12	15	2	1	1	0	1	1	0	2	2	2	1	5	4	2	0	5	4	1	2			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chrX:50378349G>A	ENST00000376020.2	-	4	749	c.724C>T	c.(724-726)Cgc>Tgc	p.R242C	SHROOM4_ENST00000289292.7_Missense_Mutation_p.R242C|SHROOM4_ENST00000460112.3_Missense_Mutation_p.R126C	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	242					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	p.R242C(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					CCATTGGTGCGCCGACTACCT	0.637													3	9					0	0	1	0	0	A	50378349	G	A	50378349	3	1	38	1	0	0	0	0	1	0	0	0	14351	1087	38	1	3781	1	SHROOM4	23	50378349	Missense_Mutation	SNP	G	TCGA-EJ-5499-01A-01D-1576-08	48970885	50378349	104892211	46	2117											
BRWD3	254065	broad.mit.edu	37	chrX	79942411	79942411	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaatggctccgagtcttcaCgttcataaatgaggctcaat	12	11	9	9	2	4	1	3	1	1	0	5	3	5	1	1	2	0	3	1	2	4	3			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chrX:79942411C>A	ENST00000373275.4	-	35	4172	c.3956G>T	c.(3955-3957)cGt>cTt	p.R1319L	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1319	Bromo 2.									breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CGAGTCTTCACGTTCATAAAT	0.383													3	105					1	1	1	1	0	A	79942411	C	A	79942411	3	1	38	1	0	0	0	0	1	0	0	0	1528	536	19	4	1480	4	BRWD3	23	79942411	Missense_Mutation	SNP	C	TCGA-EJ-5499-01A-01D-1576-08	29564062	79942411	75328149	47	2118											
TBC1D8B	54885	broad.mit.edu	37	chrX	106064139	106064139	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagaaataaccaagcattggGattggttggaacaaaatatt	18	10	9	4	0	0	1	0	0	0	1	0	3	0	3	1	3	3	2	1	3	8	6			TCGA-EJ-5499-01A-01D-1576-08	TCGA-EJ-5499-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eabee59a-01ca-476c-970c-72f69b24f6f1	f1ea82ad-41dd-4c0e-9328-73dd0548d125	g.chrX:106064139G>T	ENST00000357242.5	+	3	448	c.274G>T	c.(274-276)Gat>Tat	p.D92Y	TBC1D8B_ENST00000310452.2_Missense_Mutation_p.D92Y|TBC1D8B_ENST00000481617.2_Missense_Mutation_p.D92Y|TBC1D8B_ENST00000276175.3_Missense_Mutation_p.D92Y	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	92						intracellular	calcium ion binding|Rab GTPase activator activity	p.D92Y(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CAAGCATTGGGATTGGTTGGA	0.308													48	55					8.86878e-18	1.07037e-17	1	1	0	T	106064139	G	T	106064139	3	4	38	1	0	0	0	0	1	0	0	0	15686	1174	41	4	284	4	TBC1D8B	23	106064139	Missense_Mutation	SNP	G	TCGA-EJ-5499-01A-01D-1576-08	26121728	106064139	49206421	48	2119											
NBPF3	84224	broad.mit.edu	37	chr1	21808232	21808232	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcttttactcattggaggaaGaacacgttggcttttctctt	8	16	9	8	1	2	1	1	0	1	1	3	3	2	3	0	3	2	3	0	3	3	7			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr1:21808232G>A	ENST00000318220.6	+	16	2456	c.1408G>A	c.(1408-1410)Gaa>Aaa	p.E470K	NBPF3_ENST00000318249.5_Missense_Mutation_p.E526K|NBPF3_ENST00000454000.2_Missense_Mutation_p.E456K|NBPF3_ENST00000342104.5_Missense_Mutation_p.E514K			Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	526	NBPF 4.|Poly-Glu.					cytoplasm		p.E526K(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		ATTGGAGGAAGAACACGTTGG	0.458													16	39					0	0	1	0	0	A	21808232	G	A	21808232	3	1	39	1	0	0	0	0	1	0	0	0	10245	943	33	2	1622	2	NBPF3	1	21808232	Missense_Mutation	SNP	G	TCGA-EJ-5501-01A-01D-1576-08		21808232	227442389	1	2120											
DNMT3A	1788	broad.mit.edu	37	chr2	25467186	25467186	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggccccaccaagaggtcCacacactccacgcaaaagca	13	2	7	19	2	0	1	0	0	0	1	2	1	2	1	6	2	1	2	6	2	3	0			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr2:25467186C>T	ENST00000264709.3	-	15	2026	c.1689G>A	c.(1687-1689)gtG>gtA	p.V563V	DNMT3A_ENST00000402667.1_Silent_p.V340V|DNMT3A_ENST00000380746.4_Silent_p.V374V|DNMT3A_ENST00000321117.5_Silent_p.V563V|DNMT3A_ENST00000474887.1_5'UTR	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	563	ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	p.V563V(1)|p.V374V(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAAGAGGTCCACACACTCCA	0.627			"Mis, F, N, S"		AML								8	27					0	0	1	0	0	T	25467186	C	T	25467186	2	4	39	1	0	0	0	0	0	0	0	1	4703	581	21	2		2	DNMT3A	2	25467186	Silent	SNP	C	TCGA-EJ-5501-01A-01D-1576-08		25467186	217732187	2	2121											
CD8A	925	broad.mit.edu	37	chr2	87015654	87015654	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagttcaaaagagactcaccGgggacatttgcaaacacgtc	14	7	10	10	2	2	1	2	0	0	1	3	4	2	2	1	2	2	2	1	2	3	2			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr2:87015654G>A	ENST00000409511.2	-	8	1685	c.656_splice	c.e8+1	p.R219_splice	CD8A_ENST00000283635.3_Splice_Site_p.R219_splice|CD8A_ENST00000456996.2_Splice_Site_p.R182_splice|CD8A_ENST00000352580.3_Splice_Site_p.R182_splice|CD8A_ENST00000538832.1_Splice_Site_p.R260_splice|CD8A_ENST00000409781.1_Splice_Site_p.R182_splice	NM_001145873.1	NP_001139345.1	P01732	CD8A_HUMAN	CD8a molecule	219					antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding	p.R219W(1)		lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	8						GAGACTCACCGGGGACATTTG	0.507													5	21					0	0	1	0	0	A	87015654	G	A	87015654	5	1	39	1	0	0	0	0	0	0	1	0	3066	1130	39	1	60	1	CD8A	2	87015654	Splice_Site	SNP	G	TCGA-EJ-5501-01A-01D-1576-08	61548468	87015654	156183719	3	2122											
GLI2	2736	broad.mit.edu	37	chr2	121746685	121746685	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctggtgcttccagacgaCgtggtgcagtacatcaaggc	9	8	13	11	2	1	1	1	0	0	1	2	3	2	1	2	3	3	3	2	3	2	2			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr2:121746685C>T	ENST00000452319.1	+	14	3255	c.3195C>T	c.(3193-3195)gaC>gaT	p.D1065D	GLI2_ENST00000314490.11_Silent_p.D737D|GLI2_ENST00000361492.4_Silent_p.D1065D			P10070	GLI2_HUMAN	GLI family zinc finger 2	1065					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D1065D(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				TTCCAGACGACGTGGTGCAGT	0.687													7	93					0	0	1	0	0	T	121746685	C	T	121746685	2	4	39	1	0	0	0	0	0	0	0	1	6480	535	19	1		1	GLI2	2	121746685	Silent	SNP	C	TCGA-EJ-5501-01A-01D-1576-08	34731031	121746685	121452688	4	2123											
TUBA3D	113457	broad.mit.edu	37	chr2	132237011	132237011	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagattgttgacctagtcctGgaccggatccgcaaactggt	9	10	12	10	2	0	2	0	1	0	1	2	5	2	4	4	3	1	2	4	3	2	3			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr2:132237011G>C	ENST00000321253.6	+	3	464	c.357G>C	c.(355-357)ctG>ctC	p.L119L	TUBA3D_ENST00000409047.2_3'UTR	NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	119					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.L119L(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		ACCTAGTCCTGGACCGGATCC	0.498													30	190					0	0	1	0	0	C	132237011	G	C	132237011	2	2	39	1	0	0	0	0	0	0	0	1	16809	1335	47	4		4	TUBA3D	2	132237011	Silent	SNP	G	TCGA-EJ-5501-01A-01D-1576-08	10490326	132237011	110962362	5	2124											
EBLN2	55096	broad.mit.edu	37	chr3	73111481	73111482	+	Frame_Shift_Ins	INS	-	-	A																															ttgagctatctgggaaaaacINSagacagtatccactggatgc																								rs147131789	by1000genomes	TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr3:73111481_73111482insA	ENST00000533473.1	+	1	672_673	c.249_250insA	c.(247-252)aagacafs	p.T84fs	PPP4R2_ENST00000295862.9_Intron|PPP4R2_ENST00000394284.3_Intron|PPP4R2_ENST00000356692.5_Intron	NM_018029.3	NP_060499.3	Q6P2I7	EBLN2_HUMAN	endogenous Bornavirus-like nucleoprotein 2	84							protein binding			endometrium(1)|large_intestine(3)|lung(1)|prostate(1)	6						CTGGGAAAAACAGACAGTATCC	0.48													8	13	---	---	---	---						A	73111482	-	A	73111481	7	5	39	1	0	1	1	0	0	0	0	0	4910	477	17	0	251	0	EBLN2	3	73111481	Frame_Shift_Ins	INS	-	TCGA-EJ-5501-01A-01D-1576-08		73111481	124910949	6	2125											
GPR78	27201	broad.mit.edu	37	chr4	8584289	8584289	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgcctcatccagcagaagCggcgccgccaccgcgccacc	7	3	11	20	5	1	1	1	0	0	1	2	1	2	1	7	1	3	2	7	1	1	0			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr4:8584289C>T	ENST00000382487.4	+	2	1117	c.700C>T	c.(700-702)Cgg>Tgg	p.R234W	GPR78_ENST00000509216.1_3'UTR	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	234					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R234W(1)		central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						CCAGCAGAAGCGGCGCCGCCA	0.637													25	112					0	0	1	0	0	T	8584289	C	T	8584289	3	4	39	1	0	0	0	0	1	0	0	0	6750	759	27	1	706	1	GPR78	4	8584289	Missense_Mutation	SNP	C	TCGA-EJ-5501-01A-01D-1576-08		8584289	182569987	7	2126											
CCDC127	133957	broad.mit.edu	37	chr5	205601	205601	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctctaggtcagcggcgacGgggtcgacggacgctcgcac	7	6	15	13	7	2	0	1	0	1	0	5	3	2	1	0	5	1	2	0	5	1	1			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr5:205601G>A	ENST00000296824.3	-	3	726	c.594C>T	c.(592-594)ccC>ccT	p.P198P		NM_145265.2	NP_660308.1	Q96BQ5	CC127_HUMAN	coiled-coil domain containing 127	198								p.P198P(1)		breast(1)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12			all cancers(22;0.0236)|Lung(60;0.113)			CAGCGGCGACGGGGTCGACGG	0.522													16	82					0	0	1	0	0	A	205601	G	A	205601	2	1	39	1	0	0	0	0	0	0	0	1	2781	1103	39	1		1	CCDC127	5	205601	Silent	SNP	G	TCGA-EJ-5501-01A-01D-1576-08		205601	180709659	8	2127											
IRX2	153572	broad.mit.edu	37	chr5	2749500	2749500	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgctgcccgctcaccttcGtcctctgccgaggtctccgt	2	10	10	19	5	3	0	1	0	2	0	6	1	4	0	6	1	2	2	6	1	0	1			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr5:2749500G>A	ENST00000382611.6	-	2	899	c.651C>T	c.(649-651)gaC>gaT	p.D217D	IRX2_ENST00000502957.1_5'UTR|IRX2_ENST00000302057.5_Silent_p.D217D	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	217						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.D217D(2)		breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		GCTCACCTTCGTCCTCTGCCG	0.682													5	61					0	0	1	0	0	A	2749500	G	A	2749500	2	1	39	1	0	0	0	0	0	0	0	1	7888	1136	40	1		1	IRX2	5	2749500	Silent	SNP	G	TCGA-EJ-5501-01A-01D-1576-08	2543899	2749500	178165760	9	2128											
ANKH	56172	broad.mit.edu	37	chr5	14711313	14711313	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcgtcccgtgccttattcaTtctcctctctcatttccacg	4	15	6	16	3	4	0	2	0	2	0	8	0	6	0	4	1	1	0	4	1	1	4			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr5:14711313T>C	ENST00000284268.6	-	12	1802	c.1472A>G	c.(1471-1473)aAt>aGt	p.N491S	ANKH_ENST00000535119.1_Missense_Mutation_p.N293S	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	491					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity	p.N491S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						GCCTTATTCATTCTCCTCTCT	0.532													51	176					0	0	1	0	0	C	14711313	T	C	14711313	3	2	39	1	0	0	0	0	1	0	0	0	623	1493	52	3	10	3	ANKH	5	14711313	Missense_Mutation	SNP	T	TCGA-EJ-5501-01A-01D-1576-08	11961813	14711313	166203947	10	2129											
MRPS30	10884	broad.mit.edu	37	chr5	44809374	44809374	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcgcgctgaatgccgacCgctggtaccagtacttcacc	7	9	9	16	4	1	1	1	1	0	0	2	2	1	1	5	1	3	4	5	1	3	4			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr5:44809374C>G	ENST00000507110.1	+	1	348	c.310C>G	c.(310-312)Cgc>Ggc	p.R104G		NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	104					apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome	p.R104G(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					GAATGCCGACCGCTGGTACCA	0.617													5	26					0	0	1	0	0	G	44809374	C	G	44809374	3	3	39	1	0	0	0	0	1	0	0	0	9889	652	23	4	312	4	MRPS30	5	44809374	Missense_Mutation	SNP	C	TCGA-EJ-5501-01A-01D-1576-08	30098061	44809374	136105886	11	2130											
MCC	4163	broad.mit.edu	37	chr5	112478967	112478967	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgttgagctccgcaatgaCgctgtggagctctgtgatgc	6	12	13	10	2	1	3	0	3	1	0	2	4	2	4	1	1	3	5	1	1	1	2			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr5:112478967C>T	ENST00000302475.4	-	3	825	c.262G>A	c.(262-264)Gtc>Atc	p.V88I	MCC_ENST00000515367.2_Missense_Mutation_p.V25I|MCC_ENST00000408903.3_Missense_Mutation_p.V278I|MCC_ENST00000514701.3_5'UTR	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN	mutated in colorectal cancers	88					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	p.V88I(2)|p.V278I(2)		endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		TCCGCAATGACGCTGTGGAGC	0.547													10	34					0	0	1	0	0	T	112478967	C	T	112478967	3	4	39	1	0	0	0	0	1	0	0	0	9423	536	19	1	2287	1	MCC	5	112478967	Missense_Mutation	SNP	C	TCGA-EJ-5501-01A-01D-1576-08	67669593	112478967	68436293	12	2131											
FAM153A	285596	broad.mit.edu	37	chr5	177163583	177163583	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatcccagaatacgtacattCggccagtgtgtctgggtccc	8	10	11	12	2	1	1	0	0	1	1	4	2	3	1	3	2	2	1	3	2	3	3	rs143733594		TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr5:177163583C>T	ENST00000440605.3	-	11	713	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	FAM153A_ENST00000510276.1_Missense_Mutation_p.E144K|FAM153A_ENST00000393518.3_Intron|FAM153A_ENST00000513554.1_Intron	NM_173663.3	NP_775934.3	Q9UHL3	F153A_HUMAN	family with sequence similarity 153, member A	144								p.E144K(3)		kidney(6)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(1)	11	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TACGTACATTCGGCCAGTGTG	0.458													17	64					0	0	1	0	0	T	177163583	C	T	177163583	3	4	39	1	0	0	0	0	1	0	0	0	5490	893	31	1	542	1	FAM153A	5	177163583	Missense_Mutation	SNP	C	TCGA-EJ-5501-01A-01D-1576-08	64684616	177163583	3751677	13	2132											
MSRA	4482	broad.mit.edu	37	chr8	10285774	10285774	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagaaccccaatggctactgCggccttgggggcaccggcgt	8	6	14	13	3	0	1	0	0	0	1	0	1	0	1	4	5	3	2	4	5	4	2			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr8:10285774C>T	ENST00000528246.1	+	7	1085	c.462C>T	c.(460-462)tgC>tgT	p.C154C	MSRA_ENST00000382490.5_Silent_p.C177C|MSRA_ENST00000317173.4_Silent_p.C220C|MSRA_ENST00000441698.2_Silent_p.C180C	NM_001199729.1	NP_001186658.1	Q9UJ68	MSRA_HUMAN	methionine sulfoxide reductase A	220					methionine metabolic process|protein modification process|response to oxidative stress	mitochondrion|nucleus	peptide-methionine-(S)-S-oxide reductase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(4)	8		Myeloproliferative disorder(644;0.178)			L-Methionine(DB00134)	ATGGCTACTGCGGCCTTGGGG	0.532													3	57					0	0	1	0	0	T	10285774	C	T	10285774	2	4	39	1	0	0	0	0	0	0	0	1	9935	776	27	1		1	MSRA	8	10285774	Silent	SNP	C	TCGA-EJ-5501-01A-01D-1576-08		10285774	136078248	14	2133											
CTNNAL1	8727	broad.mit.edu	37	chr9	111735029	111735029	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctaaatttccttctactcCagtaagttttaatgctttta	10	20	3	8	0	2	0	0	0	2	0	4	0	4	0	2	0	2	3	2	0	6	10			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr9:111735029C>T	ENST00000374595.4	-	9	1352	c.1273G>A	c.(1273-1275)Gga>Aga	p.G425R	CTNNAL1_ENST00000325551.4_Missense_Mutation_p.G425R|CTNNAL1_ENST00000488130.1_5'UTR|CTNNAL1_ENST00000325580.6_Intron			Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	425					cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity	p.G425R(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		CCTTCTACTCCAGTAAGTTTT	0.398													29	107					0	0	1	0	0	T	111735029	C	T	111735029	3	4	39	1	0	0	0	0	1	0	0	0	4039	603	21	2	975	2	CTNNAL1	9	111735029	Missense_Mutation	SNP	C	TCGA-EJ-5501-01A-01D-1576-08		111735029	29478402	15	2134											
TBC1D13	54662	broad.mit.edu	37	chr9	131553912	131553912	+	Frame_Shift_Del	DEL	G	G	-																															ctgagggaaatgatcatccaGcctggcattgccaaggccaa																										TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr9:131553912delG	ENST00000372648.5	+	5	390	c.240delG	c.(238-240)cafs	p.Q80fs	TBC1D13_ENST00000539497.1_Intron|TBC1D13_ENST00000223865.8_Frame_Shift_Del_p.Q80fs|TBC1D13_ENST00000466056.1_3'UTR	NM_018201.3	NP_060671.3	Q9NVG8	TBC13_HUMAN	TBC1 domain family, member 13	80	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	6						TGATCATCCAGCCTGGCATTG	0.552													14	67	---	---	---	---						-	131553912	G	-	131553912	7	5	39	1	0	1	0	1	0	0	0	0	15659	962	34	0	258	0	TBC1D13	9	131553912	Frame_Shift_Del	DEL	G	TCGA-EJ-5501-01A-01D-1576-08	19818883	131553912	9659519	16	2135											
SEC61A2	55176	broad.mit.edu	37	chr10	12200105	12200105	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttactaggacagtgggccGtgagtattatgtttatttac	10	16	10	5	1	0	1	0	1	0	0	0	2	0	2	1	2	2	2	1	2	6	9			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr10:12200105G>A	ENST00000379033.3	+	8	1056		c.e8+1		SEC61A2_ENST00000379020.4_Intron|SEC61A2_ENST00000304267.8_Splice_Site|SEC61A2_ENST00000495368.1_Splice_Site|SEC61A2_ENST00000298428.9_Splice_Site	NM_001142628.1	NP_001136100.1	Q9H9S3	S61A2_HUMAN	Sec61 alpha 2 subunit (S. cerevisiae)							endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity	p.?(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				ACAGTGGGCCGTGAGTATTAT	0.368													10	45					0	0	1	0	0	A	12200105	G	A	12200105	5	1	39	1	0	0	0	0	0	0	1	0	14055	1159	40	1	1010	1	SEC61A2	10	12200105	Splice_Site	SNP	G	TCGA-EJ-5501-01A-01D-1576-08		12200105	123334642	17	2136											
ADAMTS14	140766	broad.mit.edu	37	chr10	72500856	72500856	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcccagcagtgtgccaagcGcaactcctactatgtgcacc	9	7	10	15	1	0	0	0	0	0	0	1	0	1	0	4	1	6	3	4	1	4	2			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr10:72500856G>A	ENST00000373208.1	+	12	1871	c.1871G>A	c.(1870-1872)cGc>cAc	p.R624H	ADAMTS14_ENST00000373207.1_Missense_Mutation_p.R621H	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	621	Cys-rich.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R624H(2)		NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						TGTGCCAAGCGCAACTCCTAC	0.627													9	74					0	0	1	0	0	A	72500856	G	A	72500856	3	1	39	1	0	0	0	0	1	0	0	0	258	1087	38	1	1917	1	ADAMTS14	10	72500856	Missense_Mutation	SNP	G	TCGA-EJ-5501-01A-01D-1576-08	60300751	72500856	63033891	18	2137											
IGSF9B	22997	broad.mit.edu	37	chr11	133790980	133790980	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggtacatgtccgtctcctcGgcgaaggggaagccctcgat	7	8	14	12	4	1	0	0	0	1	0	5	3	2	1	3	4	2	1	3	4	3	1	rs114264751	by1000genomes	TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr11:133790980G>A	ENST00000321016.8	-	18	2870	c.2640C>T	c.(2638-2640)gcC>gcT	p.A880A	IGSF9B_ENST00000533871.2_Silent_p.A880A			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	880						integral to membrane|plasma membrane		p.A336A(1)|p.A880A(1)		breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CCGTCTCCTCGGCGAAGGGGA	0.657													26	100					0	0	1	0	0	A	133790980	G	A	133790980	2	1	39	1	0	0	0	0	0	0	0	1	7650	1103	39	1		1	IGSF9B	11	133790980	Silent	SNP	G	TCGA-EJ-5501-01A-01D-1576-08		133790980	1215536	19	2138											
AKAP3	10566	broad.mit.edu	37	chr12	4736294	4736294	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgaaattaaagaaaacacTccttaggtccttcttttctg	13	14	6	8	0	2	2	0	1	2	1	4	3	4	2	2	1	1	0	2	1	6	5			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr12:4736294T>C	ENST00000545990.2	-	5	2298	c.1774A>G	c.(1774-1776)Agt>Ggt	p.S592G	AKAP3_ENST00000228850.1_Missense_Mutation_p.S592G	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	592					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding	p.S592G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						AAGAAAACACTCCTTAGGTCC	0.468													21	92					0	0	1	0	0	C	4736294	T	C	4736294	3	2	39	1	0	0	0	0	1	0	0	0	449	1551	54	3	795	3	AKAP3	12	4736294	Missense_Mutation	SNP	T	TCGA-EJ-5501-01A-01D-1576-08		4736294	129115601	20	2139											
MYL6	4637	broad.mit.edu	37	chr12	56552380	56552380	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaacaggagtttgtgggtcaGagtttgtgggtcagagtttg	9	13	16	3	0	2	2	2	0	0	2	2	3	2	3	0	3	1	3	0	3	1	3			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr12:56552380G>A	ENST00000536128.1	+	1	235	c.195G>A	c.(193-195)caG>caA	p.Q65Q	MYL6_ENST00000293422.5_Intron|MYL6_ENST00000551589.1_Intron|MYL6_ENST00000548400.1_Intron|MYL6_ENST00000548580.1_Intron|MYL6_ENST00000550697.1_Intron|MYL6_ENST00000547649.1_Intron|MYL6_ENST00000547408.1_Intron|MYL6_ENST00000549566.1_Silent_p.Q65Q|MYL6_ENST00000548293.1_Intron|RP11-603J24.18_ENST00000548571.1_RNA|MYL6_ENST00000348108.4_Intron|MYL6_ENST00000549017.1_Intron			P60660	MYL6_HUMAN	myosin, light chain 6, alkali, smooth muscle and non-muscle	0					axon guidance|muscle filament sliding|skeletal muscle tissue development	cytosol|unconventional myosin complex	actin-dependent ATPase activity|calcium ion binding|motor activity|structural constituent of muscle			large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			TTGTGGGTCAGAGTTTGTGGG	0.562													31	142					0	0	1	0	0	A	56552380	G	A	56552380	2	1	39	1	0	0	0	0	0	0	0	1	10099	957	33	2		2	MYL6	12	56552380	Silent	SNP	G	TCGA-EJ-5501-01A-01D-1576-08	51816086	56552380	77299515	21	2140											
TBX3	6926	broad.mit.edu	37	chr12	115114119	115114120	+	Splice_Site	DEL	TT	TT	-																															caaaggtgacatggtttaccTttgaggttcgatgtccctac																										TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr12:115114119_115114120delTT	ENST00000349155.2	-	5	2000_2001	c.1039_splice	c.e5+1	p.K346_splice	TBX3_ENST00000257566.3_Splice_Site_p.K366_splice	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN	T-box 3	366					anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		ATGGTTTACCTTTGAGGTTCGA	0.545													14	91	---	---	---	---						-	115114120	TT	-	115114119	8	5	39	1	0	1	0	1	0	0	1	0	15719	1623	56	0	1145	0	TBX3	12	115114119	Splice_Site	DEL	TT	TCGA-EJ-5501-01A-01D-1576-08	58561739	115114119	18737776	22	2141											
VPS13C	54832	broad.mit.edu	37	chr15	62214732	62214734	+	In_Frame_Del	DEL	ACA	ACA	-																															aggtaacttgaatggattctAcaacaacaccacaattttcc																										TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr15:62214732_62214734delACA	ENST00000261517.5	-	54	6910_6912	c.6837_6839delTGT	c.(6835-6840)gta>gt	p.VV2279del	VPS13C_ENST00000249837.3_In_Frame_Del_p.VV2236del|VPS13C_ENST00000395898.3_In_Frame_Del_p.VV2236del|VPS13C_ENST00000395896.4_In_Frame_Del_p.VV2279del	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	2279					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						AATGGATTCTACAACAACACCAC	0.365													25	165	---	---	---	---						-	62214734	ACA	-	62214732	7	5	39	1	0	1	0	1	0	0	0	0	17251	391	14	0	4578	0	VPS13C	15	62214732	In_Frame_Del	DEL	ACA	TCGA-EJ-5501-01A-01D-1576-08		62214732	40316660	23	2142											
TMC3	342125	broad.mit.edu	37	chr15	81636301	81636301	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accagtagtcacttaagtacCgcacgaaaagtcctcggaag	14	7	9	11	3	1	0	1	0	0	0	3	2	2	1	3	1	1	3	3	1	6	3			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr15:81636301C>T	ENST00000558726.1	-	14	1742	c.1607G>A	c.(1606-1608)cGg>cAg	p.R536Q	RP11-761I4.3_ENST00000559781.1_RNA|TMC3_ENST00000359440.5_Missense_Mutation_p.R535Q|RP11-761I4.3_ENST00000560851.1_RNA			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	535						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						ACTTAAGTACCGCACGAAAAG	0.468													7	48					0	0	1	0	0	T	81636301	C	T	81636301	3	4	39	1	0	0	0	0	1	0	0	0	16046	652	23	1	1734	1	TMC3	15	81636301	Missense_Mutation	SNP	C	TCGA-EJ-5501-01A-01D-1576-08	19421569	81636301	20895091	24	2143											
CLEC18B	497190	broad.mit.edu	37	chr16	74455141	74455141	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacagccaggagatgcccccGgccaggggaggtctctggat	8	5	15	13	1	1	1	0	0	1	1	2	4	1	3	4	6	2	0	4	6	0	0			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr16:74455141G>A	ENST00000339953.5	-	1	149	c.28C>T	c.(28-30)Cgg>Tgg	p.R10W		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	10						extracellular region	sugar binding	p.R10W(1)		endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						AGATGCCCCCGGCCAGGGGAG	0.677													12	115					0	0	1	0	0	A	74455141	G	A	74455141	3	1	39	1	0	0	0	0	1	0	0	0	3526	1115	39	1	1391	1	CLEC18B	16	74455141	Missense_Mutation	SNP	G	TCGA-EJ-5501-01A-01D-1576-08		74455141	15899612	25	2144											
CSE1L	1434	broad.mit.edu	37	chr20	47692015	47692015	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaacacaaagatgcagccatCtacctagtgacatctttggc	14	9	7	11	0	2	2	0	1	2	1	2	2	2	2	2	1	4	1	2	1	4	3			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr20:47692015C>T	ENST00000262982.2	+	12	1416	c.1293C>T	c.(1291-1293)atC>atT	p.I431I	CSE1L_ENST00000396192.3_Silent_p.I375I|CSE1L_ENST00000542325.1_Silent_p.I214I	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	431					apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity	p.I431I(1)		breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			ATGCAGCCATCTACCTAGTGA	0.403													4	100					0	0	1	0	0	T	47692015	C	T	47692015	2	4	39	1	0	0	0	0	0	0	0	1	3955	903	32	2		2	CSE1L	20	47692015	Silent	SNP	C	TCGA-EJ-5501-01A-01D-1576-08		47692015	15333505	26	2145											
BAGE2	85319	broad.mit.edu	37	chr21	11080670	11080673	+	RNA	DEL	AGAG	AGAG	-																															aagtataaaagtaaagacacAgagagagagacttcaaaaag																								rs3954670		TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr21:11080670_11080673delAGAG	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)		GTAAAGACACAGAGAGAGAGACTT	0.485													3	5	---	---	---	---						-	11080673	AGAG	-	11080670	6	5	39	0	1	1	0	1	0	0	0	0	1290	203	7	0		0	BAGE2	21	11080670	RNA	DEL	AGAG	TCGA-EJ-5501-01A-01D-1576-08		11080670	37049225	27	2146											
PICK1	9463	broad.mit.edu	37	chr22	38467745	38467745	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttatgagctgtcgcagactCaccggggtaatggcatcccc	8	10	11	12	2	1	2	1	1	0	1	3	2	2	2	3	3	1	4	3	3	2	3			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr22:38467745C>T	ENST00000404072.3	+	8	897	c.550C>T	c.(550-552)Cac>Tac	p.H184Y	PICK1_ENST00000356976.3_Missense_Mutation_p.H184Y|RP5-1039K5.13_ENST00000445483.1_RNA	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN	protein interacting with PRKCA 1	184	AH.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding	p.H184Y(1)		cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					GTCGCAGACTCACCGGGGTAA	0.617													17	106					0	0	1	0	0	T	38467745	C	T	38467745	3	4	39	1	0	0	0	0	1	0	0	0	11929	826	29	2	576	2	PICK1	22	38467745	Missense_Mutation	SNP	C	TCGA-EJ-5501-01A-01D-1576-08		38467745	12836821	28	2147											
OTOF	9381	broad.mit.edu	37	chr2	26699845	26699845	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggtccttggagggcacacGggcataggcgacacgcttgt	8	7	15	11	3	0	0	0	0	0	0	1	2	1	1	1	5	0	3	1	5	1	3	rs150070091		TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chr2:26699845G>A	ENST00000272371.2	-	22	2716	c.2590C>T	c.(2590-2592)Cgt>Tgt	p.R864C	OTOF_ENST00000402415.3_Missense_Mutation_p.R174C|OTOF_ENST00000339598.3_Missense_Mutation_p.R117C|OTOF_ENST00000338581.6_Missense_Mutation_p.R117C|OTOF_ENST00000403946.3_Missense_Mutation_p.R864C	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	864					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	p.R864C(1)|p.R117C(1)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGGGCACACGGGCATAGGCG	0.612													6	59					0	0	1	0	0	A	26699845	G	A	26699845	3	1	40	1	0	0	0	0	1	0	0	0	11350	1116	39	1	3688	1	OTOF	2	26699845	Missense_Mutation	SNP	G	TCGA-EJ-5502-01A-01D-1576-08		26699845	216499528	1	2148											
C2orf78	388960	broad.mit.edu	37	chr2	74040747	74040747	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccatcagctcagcatggctaCagccatcagcctctggcacc	9	7	8	17	0	4	0	3	0	1	0	4	0	4	0	4	2	5	4	4	2	1	1			TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chr2:74040747C>A	ENST00000409561.1	+	2	362	c.241C>A	c.(241-243)Cag>Aag	p.Q81K		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	81	Ser-rich.							p.Q81K(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						AGCATGGCTACAGCCATCAGC	0.532													4	53					1.23904e-05	1.46432e-05	1	1	0	A	74040747	C	A	74040747	3	1	40	1	0	0	0	0	1	0	0	0	2209	479	17	4	247	4	C2orf78	2	74040747	Missense_Mutation	SNP	C	TCGA-EJ-5502-01A-01D-1576-08	47340902	74040747	169158626	2	2149											
LRP1B	53353	broad.mit.edu	37	chr2	141259355	141259355	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctctcatctgaaccatcGccacagtcatccttattgtc	8	15	4	14	1	4	1	2	1	2	0	8	1	5	1	3	0	1	0	3	0	2	3	rs148504930		TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chr2:141259355G>A	ENST00000389484.3	-	55	9722	c.8751C>T	c.(8749-8751)ggC>ggT	p.G2917G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2917	LDL-receptor class A 20.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.G2917G(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTGAACCATCGCCACAGTCAT	0.408										TSP Lung(27;0.18)			6	103					0	0	1	0	0	A	141259355	G	A	141259355	2	1	40	1	0	0	0	0	0	0	0	1	9000	1074	38	1		1	LRP1B	2	141259355	Silent	SNP	G	TCGA-EJ-5502-01A-01D-1576-08	67218608	141259355	101940018	3	2150											
PCDHB14	0	broad.mit.edu	37	chr5	140605445	140605445	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgggggaaatcgagaactttCgaaatagctttggacttaac	13	11	11	6	2	0	1	0	0	0	1	2	5	0	3	0	3	3	1	0	3	5	4			TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chr5:140605445C>T	ENST00000239449.4	+	1	2368	c.2368C>T	c.(2368-2370)Cga>Tga	p.R790*	PCDHB14_ENST00000515856.2_Nonsense_Mutation_p.R637*	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		790					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.R790*(2)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGAGAACTTTCGAAATAGCTT	0.343													13	130					0	0	1	0	0	T	140605445	C	T	140605445	4	4	40	1	0	0	0	0	0	1	0	0	11586	876	31	1	2370	1	PCDHB14	5	140605445	Nonsense_Mutation	SNP	C	TCGA-EJ-5502-01A-01D-1576-08		140605445	40309815	4	2151											
NEFM	4741	broad.mit.edu	37	chr8	24775449	24775449	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaagaggcaaagtcaaaagCagaagtggggaaaggtgaac	18	3	16	4	0	1	3	1	1	0	2	1	5	1	5	0	5	2	2	0	5	7	0			TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chr8:24775449C>A	ENST00000221166.5	+	3	2863	c.2081C>A	c.(2080-2082)gCa>gAa	p.A694E	NEFM_ENST00000437366.2_Missense_Mutation_p.A655E|NEFM_ENST00000518131.1_Intron|NEFM_ENST00000521540.1_Intron|NEFM_ENST00000433454.2_Missense_Mutation_p.A318E			P07197	NFM_HUMAN	neurofilament, medium polypeptide	694	Tail.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		aagtcaaaagcagaagtgggg	0.448													3	55					0.115264	0.124869	1	1	0	A	24775449	C	A	24775449	3	1	40	1	0	0	0	0	1	0	0	0	10363	710	25	4	2091	4	NEFM	8	24775449	Missense_Mutation	SNP	C	TCGA-EJ-5502-01A-01D-1576-08		24775449	121588573	5	2152											
FZD3	7976	broad.mit.edu	37	chr8	28385111	28385111	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tataaggcttccacagtgacAcaaggatctcataataaagc	16	9	7	9	0	1	1	1	1	1	0	3	2	2	2	1	2	1	1	1	2	6	5			TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chr8:28385111A>T	ENST00000240093.3	+	5	1312	c.834A>T	c.(832-834)acA>acT	p.T278T	FZD3_ENST00000537916.1_Silent_p.T278T	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled family receptor 3	278					canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding	p.T278T(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		CCACAGTGACACAAGGATCTC	0.388													9	206					0	0	1	0	0	T	28385111	A	T	28385111	2	4	40	1	0	0	0	0	0	0	0	1	6166	146	6	5		5	FZD3	8	28385111	Silent	SNP	A	TCGA-EJ-5502-01A-01D-1576-08	3609662	28385111	117978911	6	2153											
CLVS1	157807	broad.mit.edu	37	chr8	62212651	62212651	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccaggaagtttcaccaagcgGatgcctttagactcctggct	9	10	10	12	1	1	1	1	0	0	1	2	3	2	3	4	3	2	2	4	3	3	3			TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chr8:62212651G>T	ENST00000519846.1	+	3	737	c.265G>T	c.(265-267)Gat>Tat	p.D89Y	CLVS1_ENST00000518592.1_Intron|CLVS1_ENST00000325897.4_Missense_Mutation_p.D89Y			Q8IUQ0	CLVS1_HUMAN	clavesin 1	89					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	p.D89Y(1)		endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TCACCAAGCGGATGCCTTTAG	0.483													5	91					0.0215528	0.024364	1	1	0	T	62212651	G	T	62212651	3	4	40	1	0	0	0	0	1	0	0	0	3594	1174	41	4	267	4	CLVS1	8	62212651	Missense_Mutation	SNP	G	TCGA-EJ-5502-01A-01D-1576-08	33827540	62212651	84151371	7	2154											
ZFPM2	23414	broad.mit.edu	37	chr8	106814115	106814115	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gagtcccaacactggccaaaCctccataaaccttctcaacc	13	7	4	17	0	1	0	1	0	1	0	4	1	3	0	6	1	4	0	6	1	5	2			TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chr8:106814115C>T	ENST00000407775.2	+	8	2055	c.1805C>T	c.(1804-1806)aCc>aTc	p.T602I	RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.T470I|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.T333I|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000520492.1_Missense_Mutation_p.T470I|RP11-152P17.2_ENST00000521622.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	602					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	p.T602I(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			ACTGGCCAAACCTCCATAAAC	0.458													16	179					0	0	1	0	0	T	106814115	C	T	106814115	3	4	40	1	0	0	0	0	1	0	0	0	17716	507	18	2	1835	2	ZFPM2	8	106814115	Missense_Mutation	SNP	C	TCGA-EJ-5502-01A-01D-1576-08	44601464	106814115	39549907	8	2155											
HSD17B3	3293	broad.mit.edu	37	chr9	99015189	99015189	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacactcctccctgtagtcCgctctacacgagagacaaca	11	8	6	16	2	2	1	1	0	1	1	5	3	5	1	3	0	2	2	3	0	3	2			TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chr9:99015189C>T	ENST00000375263.3	-	4	328	c.281G>A	c.(280-282)cGg>cAg	p.R94Q	HSD17B3_ENST00000375262.2_Missense_Mutation_p.R94Q	NM_000197.1	NP_000188.1	P37058	DHB3_HUMAN	hydroxysteroid (17-beta) dehydrogenase 3	94					androgen biosynthetic process|male genitalia development	endoplasmic reticulum membrane|microsome	binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity	p.R94Q(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)			NADH(DB00157)	CCCTGTAGTCCGCTCTACACG	0.423													15	288					0	0	1	0	0	T	99015189	C	T	99015189	3	4	40	1	0	0	0	0	1	0	0	0	7426	652	23	1	683	1	HSD17B3	9	99015189	Missense_Mutation	SNP	C	TCGA-EJ-5502-01A-01D-1576-08		99015189	42198242	9	2156											
USP20	0	broad.mit.edu	37	chr9	132641857	132641857	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtgtctgttgcagagcccCccgggcccattgacaacagc	7	8	11	15	1	1	2	0	1	1	1	1	2	1	2	4	1	4	2	4	1	1	2			TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chr9:132641857C>T	ENST00000315480.4	+	24	2676	c.2518C>T	c.(2518-2520)Ccc>Tcc	p.P840S	USP20_ENST00000372429.3_Missense_Mutation_p.P840S|USP20_ENST00000358355.1_Missense_Mutation_p.P840S|USP20_ENST00000472108.1_3'UTR			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	840	DUSP 2.				endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				TGCAGAGCCCCCCGGGCCCAT	0.662													5	81					0	0	1	0	0	T	132641857	C	T	132641857	3	4	40	1	0	0	0	0	1	0	0	0	17112	623	22	2	2604	2	USP20	9	132641857	Missense_Mutation	SNP	C	TCGA-EJ-5502-01A-01D-1576-08	33626668	132641857	8571574	10	2157											
ACBD7	414149	broad.mit.edu	37	chr10	15120540	15120540	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgctgtattctaaattccgtAtttttctatcagctcctttg	7	20	5	9	1	3	0	1	0	2	0	5	0	5	0	2	0	2	4	2	0	5	9			TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chr10:15120540A>C	ENST00000356189.5	-	4	303	c.256T>G	c.(256-258)Tac>Gac	p.Y86D	ACBD7_ENST00000496890.1_5'UTR	NM_001039844.2	NP_001034933.1	Q8N6N7	ACBD7_HUMAN	acyl-CoA binding domain containing 7	86	ACB.						fatty-acyl-CoA binding	p.Y86D(1)		endometrium(1)|lung(4)|prostate(1)	6						TAAATTCCGTATTTTTCTATC	0.393													20	212					0	0	1	0	0	C	15120540	A	C	15120540	3	2	40	1	0	0	0	0	1	0	0	0	127	449	16	5	14	5	ACBD7	10	15120540	Missense_Mutation	SNP	A	TCGA-EJ-5502-01A-01D-1576-08		15120540	120414207	11	2158											
RAG1	5896	broad.mit.edu	37	chr11	36597450	36597450	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcatgaccaaagagactGtggatgcagtttgtgagtta	12	11	12	6	0	1	3	1	2	0	1	1	5	1	4	1	1	2	4	1	1	2	2			TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chr11:36597450G>A	ENST00000299440.5	+	2	2708	c.2596G>A	c.(2596-2598)Gtg>Atg	p.V866M		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	866					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	p.V866M(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				CAAAGAGACTGTGGATGCAGT	0.493									Familial Hemophagocytic Lymphohistiocytosis				8	116					0	0	1	0	0	A	36597450	G	A	36597450	3	1	40	1	0	0	0	0	1	0	0	0	13055	1377	48	2	2598	2	RAG1	11	36597450	Missense_Mutation	SNP	G	TCGA-EJ-5502-01A-01D-1576-08		36597450	98409066	12	2159											
ACAP1	9744	broad.mit.edu	37	chr17	7240074	7240074	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgacggtcaagctggatttCgaggagtgtctcaaggactc	10	10	13	8	2	2	1	2	1	1	0	5	5	2	4	0	4	1	1	0	4	2	1			TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chr17:7240074C>T	ENST00000158762.3	+	1	227	c.21C>T	c.(19-21)ttC>ttT	p.F7F		NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	7	BAR.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						AGCTGGATTTCGAGGAGTGTC	0.612													4	107					0	0	1	0	0	T	7240074	C	T	7240074	2	4	40	1	0	0	0	0	0	0	0	1	118	883	31	1		1	ACAP1	17	7240074	Silent	SNP	C	TCGA-EJ-5502-01A-01D-1576-08		7240074	73955136	13	2160											
TOP2A	7153	broad.mit.edu	37	chr17	38564345	38564345	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gctgaatctccctcagtcagGataagcgtacactcagtgga	11	9	10	11	1	4	1	3	1	1	0	5	3	4	3	1	2	2	2	1	2	3	2			TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chr17:38564345G>C	ENST00000423485.1	-	12	1532	c.1374C>G	c.(1372-1374)atC>atG	p.I458M		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	458					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	CCTCAGTCAGGATAAGCGTAC	0.393													4	85					0	0	1	0	0	C	38564345	G	C	38564345	3	2	40	1	0	0	0	0	1	0	0	0	16426	1164	41	4	3317	4	TOP2A	17	38564345	Missense_Mutation	SNP	G	TCGA-EJ-5502-01A-01D-1576-08	31324271	38564345	42630865	14	2161											
OR7A17	26333	broad.mit.edu	37	chr19	14991753	14991753	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaccaggagtccacagagccGagggttcatgatgactgtgt	11	8	13	9	1	1	3	1	2	0	1	2	5	2	4	3	2	2	1	3	2	1	1			TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chr19:14991753G>A	ENST00000327462.2	-	1	511	c.415C>T	c.(415-417)Cgg>Tgg	p.R139W		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R139W(1)		breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					CCACAGAGCCGAGGGTTCATG	0.498													14	135					0	0	1	0	0	A	14991753	G	A	14991753	3	1	40	1	0	0	0	0	1	0	0	0	11262	1057	37	1	516	1	OR7A17	19	14991753	Missense_Mutation	SNP	G	TCGA-EJ-5502-01A-01D-1576-08		14991753	44137230	15	2162											
PBX4	80714	broad.mit.edu	37	chr19	19681601	19681601	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccagcctcaggagctgggCgtcagggggatcttcgtctt	6	10	14	11	2	4	0	2	0	2	0	6	2	5	2	2	4	2	1	2	4	0	2			TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chr19:19681601C>T	ENST00000251203.8	-	3	521	c.235G>A	c.(235-237)Gcc>Acc	p.A79T		NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN	pre-B-cell leukemia homeobox 4	79							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A79T(1)		large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						AGGAGCTGGGCGTCAGGGGGA	0.562													6	83					0	0	1	0	0	T	19681601	C	T	19681601	3	4	40	1	0	0	0	0	1	0	0	0	11542	768	27	1	913	1	PBX4	19	19681601	Missense_Mutation	SNP	C	TCGA-EJ-5502-01A-01D-1576-08	4689848	19681601	39447382	16	2163											
MED12	9968	broad.mit.edu	37	chrX	70357096	70357096	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgcagaagctgcccaccCgaccaacttaccctggagtg	11	6	9	15	1	0	1	0	0	0	1	0	3	0	2	4	1	5	2	4	1	4	1			TCGA-EJ-5502-01A-01D-1576-08	TCGA-EJ-5502-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b6959f-ca52-42a1-900a-bb2174e31c17	561be685-9ad0-44b4-8c4f-dfbdcfbf68d6	g.chrX:70357096C>A	ENST00000333646.6	+	39	5810	c.5611C>A	c.(5611-5613)Cga>Aga	p.R1871R	MED12_ENST00000374102.1_Silent_p.R1871R|MED12_ENST00000374080.3_Silent_p.R1871R|MED12_ENST00000478889.1_3'UTR	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1871	Interaction with CTNNB1 and GLI3.				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GCTGCCCACCCGACCAACTTA	0.577			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome						3	52					1	1	1	1	0	A	70357096	C	A	70357096	2	1	40	1	0	0	0	0	0	0	0	1	9478	644	23	4		4	MED12	23	70357096	Silent	SNP	C	TCGA-EJ-5502-01A-01D-1576-08		70357096	84913464	17	2164											
CALML6	163688	broad.mit.edu	37	chr1	1848280	1848280	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggagagcgagctgagggcgGcattccgtgtctttgacaaa	10	8	15	8	3	1	3	0	2	1	1	2	5	2	3	1	3	2	2	1	3	1	2			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr1:1848280G>A	ENST00000307786.3	+	4	797	c.343G>A	c.(343-345)Gca>Aca	p.A115T	CALML6_ENST00000462293.1_3'UTR	NM_138705.2	NP_619650.2	Q8TD86	CALL6_HUMAN	calmodulin-like 6	115	EF-hand 3.					cytoplasm|nucleus	calcium ion binding	p.A115T(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.94e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.83e-23)|GBM - Glioblastoma multiforme(42;3.23e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		GCTGAGGGCGGCATTCCGTGT	0.597													4	205					0	0	1	0	0	A	1848280	G	A	1848280	3	1	41	1	0	0	0	0	1	0	0	0	2608	1203	42	2	357	2	CALML6	1	1848280	Missense_Mutation	SNP	G	TCGA-EJ-5503-01A-01D-1576-08		1848280	247402341	1	2165											
ZBTB17	7709	broad.mit.edu	37	chr1	16274882	16274882	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgccagcactgctttatgagCcttaaagtgaacaccgtcca	11	9	8	13	2	0	2	0	2	0	0	1	2	1	2	4	0	4	2	4	0	4	3			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr1:16274882C>A	ENST00000375733.2	-	3	347	c.109G>T	c.(109-111)Gct>Tct	p.A37S	ZBTB17_ENST00000537142.1_Intron|ZBTB17_ENST00000448462.2_Missense_Mutation_p.A37S|ZBTB17_ENST00000375743.4_Missense_Mutation_p.A37S|ZBTB17_ENST00000479282.1_5'UTR			Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	37	BTB.				negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A37S(1)		breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		GCTTTATGAGCCTTAAAGTGA	0.572													7	106					0.00198382	0.00239225	1	1	0	A	16274882	C	A	16274882	3	1	41	1	0	0	0	0	1	0	0	0	17586	739	26	4	2358	4	ZBTB17	1	16274882	Missense_Mutation	SNP	C	TCGA-EJ-5503-01A-01D-1576-08	14426602	16274882	232975739	2	2166											
FAM5B	0	broad.mit.edu	37	chr1	177199242	177199242	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtatgctgacttcatggagcGgtaccgccagggtttcacca	8	10	12	11	2	2	1	2	1	0	0	2	2	2	2	3	3	3	4	3	3	2	4			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr1:177199242G>A	ENST00000361539.4	+	2	542	c.230G>A	c.(229-231)cGg>cAg	p.R77Q		NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		77						extracellular region		p.R77Q(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						TTCATGGAGCGGTACCGCCAG	0.617													5	149					0	0	1	0	0	A	177199242	G	A	177199242	3	1	41	1	0	0	0	0	1	0	0	0	5628	1116	39	1	232	1	FAM5B	1	177199242	Missense_Mutation	SNP	G	TCGA-EJ-5503-01A-01D-1576-08	160924360	177199242	72051379	3	2167											
ZDBF2	57683	broad.mit.edu	37	chr2	207169502	207169502	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagtggtgcatttggatGatgctttttctgaagaagag	10	14	13	4	0	1	5	0	3	1	2	1	6	1	6	0	2	2	2	0	2	3	3			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr2:207169502G>T	ENST00000374423.3	+	5	636	c.250G>T	c.(250-252)Gat>Tat	p.D84Y		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	84							nucleic acid binding|zinc ion binding	p.D84Y(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GCATTTGGATGATGCTTTTTC	0.418													4	121					0.00024832	0.000308519	1	1	0	T	207169502	G	T	207169502	3	4	41	1	0	0	0	0	1	0	0	0	17657	1290	45	4	260	4	ZDBF2	2	207169502	Missense_Mutation	SNP	G	TCGA-EJ-5503-01A-01D-1576-08		207169502	36029871	4	2168											
CD200R1L	344807	broad.mit.edu	37	chr3	112546284	112546284	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actatgcctctgtaatacccGtcatgagtggtgtccaccgg	8	11	10	12	2	2	1	1	1	1	0	3	1	3	1	4	2	2	1	4	2	3	3			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr3:112546284G>A	ENST00000488794.1	-	5	886	c.297C>T	c.(295-297)gaC>gaT	p.D99D	CD200R1L_ENST00000448932.1_Silent_p.D99D|CD200R1L_ENST00000398214.1_Silent_p.D120D			Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like	120	Ig-like V-type.					integral to membrane	receptor activity	p.D120D(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						TGTAATACCCGTCATGAGTGG	0.463													7	268					0	0	1	0	0	A	112546284	G	A	112546284	2	1	41	1	0	0	0	0	0	0	0	1	3004	1136	40	1		1	CD200R1L	3	112546284	Silent	SNP	G	TCGA-EJ-5503-01A-01D-1576-08		112546284	85476146	5	2169											
EPB41L4A	64097	broad.mit.edu	37	chr5	111598235	111598235	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacatctccagggatttggCagtcctcaagtaattcagct	11	12	8	10	0	3	0	2	0	1	0	5	1	4	1	2	2	2	3	2	2	3	4			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr5:111598235C>T	ENST00000261486.5	-	7	874	c.598G>A	c.(598-600)Gcc>Acc	p.A200T		NM_022140.3	NP_071423.3	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	200	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	p.A200T(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		AGGGATTTGGCAGTCCTCAAG	0.408													4	242					0	0	1	0	0	T	111598235	C	T	111598235	3	4	41	1	0	0	0	0	1	0	0	0	5183	710	25	2	1530	2	EPB41L4A	5	111598235	Missense_Mutation	SNP	C	TCGA-EJ-5503-01A-01D-1576-08		111598235	69317025	6	2170											
PCDHA3	0	broad.mit.edu	37	chr5	140181572	140181572	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggtaccctagtggtgaccGttaacgccaccgatttggat	9	11	11	10	3	0	1	0	1	0	0	0	3	0	2	4	3	2	2	4	3	3	4			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr5:140181572G>A	ENST00000522353.2	+	1	790	c.790G>A	c.(790-792)Gtt>Att	p.V264I	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.V264I|PCDHA1_ENST00000504120.2_Intron	NM_018906.2	NP_061729.1												p.V264I(4)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTGGTGACCGTTAACGCCAC	0.418													4	133					0	0	1	0	0	A	140181572	G	A	140181572	3	1	41	1	0	0	0	0	1	0	0	0	11572	1145	40	1	792	1	PCDHA3	5	140181572	Missense_Mutation	SNP	G	TCGA-EJ-5503-01A-01D-1576-08	28583337	140181572	40733688	7	2171											
TCF19	6941	broad.mit.edu	37	chr6	31127393	31127393	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctgcggccccagcaggaGcctggcctcatctctgggat	5	7	13	16	1	2	0	1	0	1	0	3	2	2	2	5	4	3	1	5	4	0	0			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr6:31127393G>T	ENST00000376257.3	+	2	901	c.147G>T	c.(145-147)gaG>gaT	p.E49D	TCF19_ENST00000376255.4_Missense_Mutation_p.E49D	NM_007109.2	NP_009040.2	Q9Y242	TCF19_HUMAN	transcription factor 19	49	FHA.				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E49D(1)		kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						CCCAGCAGGAGCCTGGCCTCA	0.662													3	46					1	1	1	1	0	T	31127393	G	T	31127393	3	4	41	1	0	0	0	0	1	0	0	0	15749	962	34	4	149	4	TCF19	6	31127393	Missense_Mutation	SNP	G	TCGA-EJ-5503-01A-01D-1576-08		31127393	139987674	8	2172											
ABCC10	89845	broad.mit.edu	37	chr6	43400462	43400462	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cggcagcctcaggacatttgCcgcctcccccacagactgca	8	6	9	18	2	1	1	1	0	0	1	2	2	2	2	5	2	3	2	5	2	0	1			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr6:43400462C>T	ENST00000244533.3	+	1	974	c.615C>T	c.(613-615)tgC>tgT	p.C205C	ABCC10_ENST00000372530.4_Silent_p.C248C|ABCC10_ENST00000443426.2_Intron	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	248						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.C205C(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			AGGACATTTGCCGCCTCCCCC	0.642													3	58					0	0	1	0	0	T	43400462	C	T	43400462	2	4	41	1	0	0	0	0	0	0	0	1	50	747	26	2		2	ABCC10	6	43400462	Silent	SNP	C	TCGA-EJ-5503-01A-01D-1576-08	12273069	43400462	127714605	9	2173											
ZNF212	7988	broad.mit.edu	37	chr7	148947631	148947631	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccccgggcagcaagggggagGcccccaaggtagtctcattg	8	5	15	13	1	1	0	1	0	1	0	2	1	1	1	4	5	1	3	4	5	3	2			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr7:148947631G>A	ENST00000335870.2	+	2	534	c.406G>A	c.(406-408)Gcc>Acc	p.A136T		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	136					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding	p.A136T(1)		endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			CAAGGGGGAGGCCCCCAAGGT	0.557													14	212					0	0	1	0	0	A	148947631	G	A	148947631	3	1	41	1	0	0	0	0	1	0	0	0	17826	1203	42	2	412	2	ZNF212	7	148947631	Missense_Mutation	SNP	G	TCGA-EJ-5503-01A-01D-1576-08		148947631	10191032	10	2174											
DOCK8	81704	broad.mit.edu	37	chr9	428369	428369	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccattcccccaggcgagctCggctctggactgtaaagaca	9	8	10	14	2	1	1	0	0	1	1	4	3	3	2	3	3	1	3	3	3	2	2			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr9:428369C>A	ENST00000432829.2	+	35	4458	c.4142C>A	c.(4141-4143)tCg>tAg	p.S1381*	DOCK8_ENST00000469391.1_Nonsense_Mutation_p.S1349*|DOCK8_ENST00000382329.1_Nonsense_Mutation_p.S916*|DOCK8_ENST00000453981.1_Nonsense_Mutation_p.S1449*	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1449	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.S1381*(2)|p.S1449*(1)		breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CAGGCGAGCTCGGCTCTGGAC	0.502													4	123					0.00909568	0.010359	1	1	0	A	428369	C	A	428369	4	1	41	1	0	0	0	0	0	1	0	0	4720	893	31	4	4484	4	DOCK8	9	428369	Nonsense_Mutation	SNP	C	TCGA-EJ-5503-01A-01D-1576-08		428369	140785062	11	2175											
TPRN	286262	broad.mit.edu	37	chr9	140093678	140093678	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaaggtgttgctgccccGgggctgaagctctgccacgc	5	9	15	12	2	1	2	0	2	1	0	1	2	1	2	3	3	4	4	3	3	2	1			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr9:140093678G>A	ENST00000409012.4	-	1	1572	c.1486C>T	c.(1486-1488)Cgg>Tgg	p.R496W	TPRN_ENST00000541945.1_Intron|TPRN_ENST00000321773.2_Missense_Mutation_p.R435W	NM_001128228.2	NP_001121700.2	Q4KMQ1	TPRN_HUMAN	taperin	496					sensory perception of sound	stereocilium		p.R190W(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						TTGCTGCCCCGGGGCTGAAGC	0.682													3	110					0	0	1	0	0	A	140093678	G	A	140093678	3	1	41	1	0	0	0	0	1	0	0	0	16482	1115	39	1	745	1	TPRN	9	140093678	Missense_Mutation	SNP	G	TCGA-EJ-5503-01A-01D-1576-08	139665309	140093678	1119753	12	2176											
INS-IGF2	0	broad.mit.edu	37	chr11	2182081	2182081	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctcgttccccgcacactaGgtagagagcttccaccaggt	8	8	10	15	2	0	1	0	0	0	1	3	2	2	1	5	2	1	4	5	2	2	4			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr11:2182081G>A	ENST00000397270.1	-	2	179	c.121C>T	c.(121-123)Cta>Tta	p.L41L	INS_ENST00000397262.1_Silent_p.L41L|INS_ENST00000512523.1_Silent_p.L41L|INS_ENST00000250971.3_Silent_p.L41L|INS_ENST00000381330.4_Silent_p.L41L	NM_001042376.2	NP_001035835.1	Q1WM24	Q1WM24_HUMAN		41					glucose metabolic process	extracellular region	hormone activity	p.L41L(2)		haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	5		all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.0832)|Lung(200;0.156)		CCGCACACTAGGTAGAGAGCT	0.662													4	91					0	0	1	0	0	A	2182081	G	A	2182081	2	1	41	1	0	0	0	0	0	0	0	1	7807	991	35	2		2	INS-IGF2	11	2182081	Silent	SNP	G	TCGA-EJ-5503-01A-01D-1576-08		2182081	132824435	13	2177											
MMP3	4314	broad.mit.edu	37	chr11	102709910	102709910	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cacgcctgaaggaagagatgGccaaaatgaagagatcaaat	18	5	11	7	1	1	4	1	2	0	2	1	7	1	5	2	2	0	0	2	2	6	0			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr11:102709910G>A	ENST00000299855.5	-	7	1256	c.1000C>T	c.(1000-1002)Cca>Tca	p.P334S		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	334	Hemopexin-like 1.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.P334S(2)		endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	GGAAGAGATGGCCAAAATGAA	0.353													4	203					0	0	1	0	0	A	102709910	G	A	102709910	3	1	41	1	0	0	0	0	1	0	0	0	9715	1203	42	2	449	2	MMP3	11	102709910	Missense_Mutation	SNP	G	TCGA-EJ-5503-01A-01D-1576-08	100527829	102709910	32296606	14	2178											
OR4D5	219875	broad.mit.edu	37	chr11	123810566	123810566	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccatcacagcacctaggatGctggttgacttgctctcagg	8	11	10	12	0	2	1	2	1	1	0	4	2	3	2	2	3	3	4	2	3	1	3			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr11:123810566G>T	ENST00000307033.2	+	1	317	c.243G>T	c.(241-243)atG>atT	p.M81I		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M81I(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CACCTAGGATGCTGGTTGACT	0.483													4	240					1	1	1	1	0	T	123810566	G	T	123810566	3	4	41	1	0	0	0	0	1	0	0	0	11105	1319	46	4	245	4	OR4D5	11	123810566	Missense_Mutation	SNP	G	TCGA-EJ-5503-01A-01D-1576-08	21100656	123810566	11195950	15	2179											
B3GNT4	79369	broad.mit.edu	37	chr12	122690955	122690955	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgctcttcctgaggaaggcgGccaagcccgcaggagacccc	8	5	13	15	2	1	2	0	1	1	1	2	4	2	3	5	4	2	2	5	4	2	1			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr12:122690955G>A	ENST00000535274.1	+	1	1809	c.82G>A	c.(82-84)Gcc>Acc	p.A28T	B3GNT4_ENST00000546192.1_Missense_Mutation_p.A28T|B3GNT4_ENST00000545141.1_Intron|B3GNT4_ENST00000324189.4_Missense_Mutation_p.A53T			Q9C0J1	B3GN4_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4	53					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity	p.A53T(1)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)		GAGGAAGGCGGCCAAGCCCGC	0.662													4	130					0	0	1	0	0	A	122690955	G	A	122690955	3	1	41	1	0	0	0	0	1	0	0	0	1257	1203	42	2	163	2	B3GNT4	12	122690955	Missense_Mutation	SNP	G	TCGA-EJ-5503-01A-01D-1576-08		122690955	11160940	16	2180											
ERCC5	2073	broad.mit.edu	37	chr13	103514446	103514446	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttcttccagcaaaatgcacgGcatgtcttttgacgtgaagt	10	13	9	9	2	2	2	0	2	2	0	3	2	3	2	1	1	2	3	1	1	3	4			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr13:103514446G>A	ENST00000355739.4	+	8	2370	c.947G>A	c.(946-948)gGc>gAc	p.G316D	BIVM-ERCC5_ENST00000602836.1_Silent_p.R741R	NM_000123.3	NP_000114.2			excision repair cross-complementing rodent repair deficiency, complementation group 5									p.G316D(2)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AAAATGCACGGCATGTCTTTT	0.418			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				5	430					0	0	1	0	0	A	103514446	G	A	103514446	3	1	41	1	0	0	0	0	1	0	0	0	5244	1203	42	2	977	2	ERCC5	13	103514446	Missense_Mutation	SNP	G	TCGA-EJ-5503-01A-01D-1576-08		103514446	11655432	17	2181											
EML5	161436	broad.mit.edu	37	chr14	89083083	89083083	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacttacaaatttttctggaCatgggaagtcaaataactta	16	13	6	6	0	2	0	1	0	1	0	2	2	2	2	0	2	3	0	0	2	7	5			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr14:89083083C>T	ENST00000554922.1	-	42	6031	c.5783G>A	c.(5782-5784)tGt>tAt	p.C1928Y	EML5_ENST00000380664.5_Missense_Mutation_p.C1920Y|EML5_ENST00000352093.5_Missense_Mutation_p.C1882Y	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1920				K -> R (in Ref. 2; AAI50640).		cytoplasm|microtubule		p.C1928Y(2)		breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TTTTTCTGGACATGGGAAGTC	0.348													4	49					0	0	1	0	0	T	89083083	C	T	89083083	3	4	41	1	0	0	0	0	1	0	0	0	5128	478	17	2	162	2	EML5	14	89083083	Missense_Mutation	SNP	C	TCGA-EJ-5503-01A-01D-1576-08		89083083	18266457	18	2182											
MKRN3	7681	broad.mit.edu	37	chr15	23812105	23812105	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaacttattcagcaatacaaGgaggcaatgagcaacaaggc	18	6	9	8	0	1	1	1	1	0	0	1	2	1	2	0	3	5	3	0	3	8	3			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr15:23812105G>T	ENST00000314520.3	+	1	1652	c.1176G>T	c.(1174-1176)aaG>aaT	p.K392N	MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000568945.1_3'UTR|MKRN3_ENST00000564592.1_Missense_Mutation_p.K152N	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	392						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	p.K392N(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		AGCAATACAAGGAGGCAATGA	0.502													7	144					0.00307968	0.00360762	1	1	0	T	23812105	G	T	23812105	3	4	41	1	0	0	0	0	1	0	0	0	9656	991	35	4	1178	4	MKRN3	15	23812105	Missense_Mutation	SNP	G	TCGA-EJ-5503-01A-01D-1576-08		23812105	78719287	19	2183											
ABCA3	21	broad.mit.edu	37	chr16	2354107	2354107	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cccgaagcagaagtcgtcgtCcacgttgacgggactcagga	10	6	13	12	5	1	2	1	1	0	1	4	5	2	4	2	2	1	2	2	2	2	1			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr16:2354107C>T	ENST00000301732.5	-	12	2030	c.1330G>A	c.(1330-1332)Gac>Aac	p.D444N	ABCA3_ENST00000382381.3_Missense_Mutation_p.D386N	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	444					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.D444N(1)		breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				AAGTCGTCGTCCACGTTGACG	0.632													5	240					0	0	1	0	0	T	2354107	C	T	2354107	3	4	41	1	0	0	0	0	1	0	0	0	33	855	30	2	3872	2	ABCA3	16	2354107	Missense_Mutation	SNP	C	TCGA-EJ-5503-01A-01D-1576-08		2354107	88000646	20	2184											
SLFN13	146857	broad.mit.edu	37	chr17	33769199	33769199	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagaggatcacaattccctgGgagaaaggtcgcatttgctt	11	10	12	8	1	1	2	1	0	0	2	3	5	2	3	1	3	1	2	1	3	2	3			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr17:33769199G>A	ENST00000285013.6	-	5	1580	c.1305C>T	c.(1303-1305)tcC>tcT	p.S435S	SLFN13_ENST00000542635.1_Silent_p.S435S|SLFN13_ENST00000534689.1_Silent_p.S117S|SLFN13_ENST00000533791.1_Silent_p.S435S|SLFN13_ENST00000360502.2_Silent_p.S117S|SLFN13_ENST00000526861.1_Silent_p.S435S	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	435						intracellular	ATP binding	p.S435S(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CAATTCCCTGGGAGAAAGGTC	0.488													4	130					0	0	1	0	0	A	33769199	G	A	33769199	2	1	41	1	0	0	0	0	0	0	0	1	14790	1219	43	2		2	SLFN13	17	33769199	Silent	SNP	G	TCGA-EJ-5503-01A-01D-1576-08		33769199	47426011	21	2185											
ZPBP2	124626	broad.mit.edu	37	chr17	38028691	38028691	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcatataaatgccattctgTtgaaattccagaacatggcc	14	12	6	9	0	2	2	1	1	1	1	3	2	3	2	3	1	2	1	3	1	5	5			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr17:38028691T>C	ENST00000377940.3	+	4	648	c.509T>C	c.(508-510)gTt>gCt	p.V170A	ZPBP2_ENST00000584588.1_Intron|ZPBP2_ENST00000348931.4_Missense_Mutation_p.V192A	NM_198844.2	NP_942141.2	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2	192					binding of sperm to zona pellucida	extracellular region		p.V192A(1)		kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			TGCCATTCTGTTGAAATTCCA	0.303													3	126					0	0	1	0	0	C	38028691	T	C	38028691	3	2	41	1	0	0	0	0	1	0	0	0	18262	1725	60	3	593	3	ZPBP2	17	38028691	Missense_Mutation	SNP	T	TCGA-EJ-5503-01A-01D-1576-08	4259492	38028691	43166519	22	2186											
RPS6KB1	6198	broad.mit.edu	37	chr17	58009016	58009016	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaaatctccatggctttgggGcatttacatcaaaaggggat	12	11	11	7	0	2	0	1	0	1	0	3	2	2	1	1	5	1	2	1	5	4	3			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr17:58009016G>A	ENST00000225577.4	+	7	642	c.621G>A	c.(619-621)ggG>ggA	p.G207G	RPS6KB1_ENST00000393021.3_Silent_p.G154G|RPS6KB1_ENST00000443572.2_Silent_p.G184G|RPS6KB1_ENST00000406116.3_Silent_p.G207G	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 1	207	Protein kinase.				apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade	cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|synapse|synaptosome	ATP binding|protein binding|protein kinase activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			TGGCTTTGGGGCATTTACATC	0.368													4	161					0	0	1	0	0	A	58009016	G	A	58009016	2	1	41	1	0	0	0	0	0	0	0	1	13708	1190	42	2		2	RPS6KB1	17	58009016	Silent	SNP	G	TCGA-EJ-5503-01A-01D-1576-08	19980325	58009016	23186194	23	2187											
H1F0	3005	broad.mit.edu	37	chr22	38202050	38202050	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccaagactgtcaaagccaagCcggtcaaggcatccaagccc	13	4	9	15	1	2	1	2	0	0	1	3	1	3	1	5	2	3	1	5	2	5	0			TCGA-EJ-5503-01A-01D-1576-08	TCGA-EJ-5503-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c002f7-e972-421a-b32d-7dd675d81931	0799b439-9364-4606-a024-7f100a249f53	g.chr22:38202050C>T	ENST00000340857.2	+	1	937	c.499C>T	c.(499-501)Ccg>Tcg	p.P167S		NM_005318.3	NP_005309.1	P07305	H10_HUMAN	H1 histone family, member 0	167					DNA fragmentation involved in apoptotic nuclear change|nucleosome assembly	actin cytoskeleton|Golgi apparatus|nucleoplasm|nucleosome	DNA binding	p.P167S(1)		cervix(1)|endometrium(1)|kidney(2)|prostate(2)|urinary_tract(1)	7	Melanoma(58;0.045)					CAAAGCCAAGCCGGTCAAGGC	0.522													3	39					0	0	1	0	0	T	38202050	C	T	38202050	3	4	41	1	0	0	0	0	1	0	0	0	6961	739	26	2	501	2	H1F0	22	38202050	Missense_Mutation	SNP	C	TCGA-EJ-5503-01A-01D-1576-08		38202050	13102516	24	2188											
CROCC	9696	broad.mit.edu	37	chr1	17295800	17295800	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acctgcatctgcagaaggctCtgaccgcctgtgaacatgac	10	8	10	13	1	2	4	0	3	2	1	2	4	2	4	3	1	3	3	3	1	2	0			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr1:17295800C>G	ENST00000375541.5	+	32	5335	c.5266C>G	c.(5266-5268)Ctg>Gtg	p.L1756V		NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	1756					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity	p.L1756V(1)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GCAGAAGGCTCTGACCGCCTG	0.652													7	12					0	0	1	0	0	G	17295800	C	G	17295800	3	3	42	1	0	0	0	0	1	0	0	0	3916	912	32	4	5392	4	CROCC	1	17295800	Missense_Mutation	SNP	C	TCGA-EJ-5504-01A-01D-1576-08		17295800	231954821	1	2189											
PCSK9	255738	broad.mit.edu	37	chr1	55521763	55521763	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacagccgcgtcctcaacgcCgcctgccagcgcctggcgag	6	5	12	18	6	1	0	1	0	0	0	2	1	2	0	6	1	5	0	6	1	2	1			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr1:55521763C>T	ENST00000302118.5	+	6	1187	c.897C>T	c.(895-897)gcC>gcT	p.A299A	PCSK9_ENST00000490692.1_3'UTR|PCSK9_ENST00000543384.1_Silent_p.A99A	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	299	Peptidase S8.				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding	p.A299A(1)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						TCCTCAACGCCGCCTGCCAGC	0.692													3	11					0	0	1	0	0	T	55521763	C	T	55521763	2	4	42	1	0	0	0	0	0	0	0	1	11653	639	23	1		1	PCSK9	1	55521763	Silent	SNP	C	TCGA-EJ-5504-01A-01D-1576-08	38225963	55521763	193728858	2	2190											
NTNG1	22854	broad.mit.edu	37	chr1	107867346	107867346	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaatcaaagacaggttcgCgttttttgctggacctcgcc	9	12	10	10	3	1	2	1	1	0	1	3	3	1	3	2	2	1	3	2	2	2	4			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr1:107867346C>T	ENST00000370067.1	+	3	1316	c.689C>T	c.(688-690)gCg>gTg	p.A230V	NTNG1_ENST00000370065.1_Missense_Mutation_p.A230V|NTNG1_ENST00000370070.2_Missense_Mutation_p.A230V|NTNG1_ENST00000370071.2_Missense_Mutation_p.A230V|NTNG1_ENST00000370072.3_Missense_Mutation_p.A230V|NTNG1_ENST00000370073.2_Missense_Mutation_p.A230V|NTNG1_ENST00000370074.4_Missense_Mutation_p.A230V|NTNG1_ENST00000542803.1_Missense_Mutation_p.A230V|NTNG1_ENST00000370061.3_Missense_Mutation_p.A230V|NTNG1_ENST00000477948.1_3'UTR|NTNG1_ENST00000370066.1_Missense_Mutation_p.A230V|NTNG1_ENST00000370068.1_Missense_Mutation_p.A230V			Q9Y2I2	NTNG1_HUMAN	netrin G1	230	Laminin N-terminal.				axonogenesis	anchored to plasma membrane	protein binding	p.A230V(4)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		GACAGGTTCGCGTTTTTTGCT	0.428													12	89					0	0	1	0	0	T	107867346	C	T	107867346	3	4	42	1	0	0	0	0	1	0	0	0	10752	768	27	1	695	1	NTNG1	1	107867346	Missense_Mutation	SNP	C	TCGA-EJ-5504-01A-01D-1576-08	52345583	107867346	141383275	3	2191											
TRIM45	80263	broad.mit.edu	37	chr1	117661174	117661174	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggagctcccacacagagtccCcatgcttgtggatgacattg	9	9	11	12	0	0	2	0	1	0	1	2	4	2	4	3	2	2	2	3	2	0	2			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr1:117661174C>A	ENST00000256649.4	-	2	1230	c.704G>T	c.(703-705)gGg>gTg	p.G235V	TRIM45_ENST00000369464.3_Missense_Mutation_p.G235V|TRIM45_ENST00000369461.3_Missense_Mutation_p.G178V	NM_025188.3	NP_079464.2	Q9H8W5	TRI45_HUMAN	tripartite motif containing 45	235						cytoplasm|nucleus	zinc ion binding	p.G235V(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		CACAGAGTCCCCATGCTTGTG	0.577													4	148					0.150653	0.153859	1	1	0	A	117661174	C	A	117661174	3	1	42	1	0	0	0	0	1	0	0	0	16581	623	22	4	1058	4	TRIM45	1	117661174	Missense_Mutation	SNP	C	TCGA-EJ-5504-01A-01D-1576-08	9793828	117661174	131589447	4	2192											
RGS5	8490	broad.mit.edu	37	chr1	163122355	163122355	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaacctctttaggagcctcCgtttgaatgaattcttcata	10	14	6	11	1	3	2	1	2	2	0	4	3	4	3	4	1	2	1	4	1	5	6	rs150796534		TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr1:163122355C>T	ENST00000313961.5	-	4	646	c.369G>A	c.(367-369)acG>acA	p.T123T	RGS5_ENST00000367903.3_Silent_p.T143T|RGS5_ENST00000530507.1_Silent_p.T123T|RGS5_ENST00000527988.1_Silent_p.T15T	NM_001254749.1|NM_003617.3	NP_001241678.1|NP_003608.1	O15539	RGS5_HUMAN	regulator of G-protein signaling 5	123	RGS.				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.T123T(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20			LUSC - Lung squamous cell carcinoma(543;0.187)			TAGGAGCCTCCGTTTGAATGA	0.473													126	555					0	0	1	0	0	T	163122355	C	T	163122355	2	4	42	1	0	0	0	0	0	0	0	1	13358	639	23	1		1	RGS5	1	163122355	Silent	SNP	C	TCGA-EJ-5504-01A-01D-1576-08	45461181	163122355	86128266	5	2193											
OR2M3	127062	broad.mit.edu	37	chr1	248367247	248367247	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcccctcatctacagcctccGcaacaaggaggtgaccagag	11	6	9	15	1	2	2	1	1	1	1	4	3	4	3	5	2	3	1	5	2	3	1			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr1:248367247G>A	ENST00000456743.1	+	1	916	c.878G>A	c.(877-879)cGc>cAc	p.R293H		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R293H(1)		endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TACAGCCTCCGCAACAAGGAG	0.473													19	156					0	0	1	0	0	A	248367247	G	A	248367247	3	1	42	1	0	0	0	0	1	0	0	0	11059	1087	38	1	880	1	OR2M3	1	248367247	Missense_Mutation	SNP	G	TCGA-EJ-5504-01A-01D-1576-08	85244892	248367247	883374	6	2194											
KYNU	8942	broad.mit.edu	37	chr2	143712411	143712411	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagaaatagccctaatgaatGctttgactgtaaatttacat	16	13	6	6	0	0	3	0	2	0	1	0	3	0	3	1	0	3	2	1	0	8	6			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr2:143712411G>T	ENST00000264170.4	+	5	664	c.406G>T	c.(406-408)Gct>Tct	p.A136S	KYNU_ENST00000409512.1_Missense_Mutation_p.A136S|KYNU_ENST00000375773.2_Missense_Mutation_p.A136S	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase	136					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity	p.A136S(2)		large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	CCTAATGAATGCTTTGACTGT	0.284													4	144					1	1	1	1	0	T	143712411	G	T	143712411	3	4	42	1	0	0	0	0	1	0	0	0	8626	1319	46	4	420	4	KYNU	2	143712411	Missense_Mutation	SNP	G	TCGA-EJ-5504-01A-01D-1576-08		143712411	99486962	7	2195											
CHRNA1	1134	broad.mit.edu	37	chr2	175618298	175618298	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcaggcaggggatgatgacGttgacgatgaagtagagggg	12	6	19	4	2	0	5	0	4	0	1	0	7	0	6	0	5	1	4	0	5	2	2	rs137852798		TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr2:175618298G>A	ENST00000348749.5	-	6	788	c.711C>T	c.(709-711)aaC>aaT	p.N237N	CHRNA1_ENST00000261007.5_Silent_p.N262N|CHRNA1_ENST00000409323.1_Silent_p.N237N|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409219.1_Silent_p.N237N|CHRNA1_ENST00000409542.1_Silent_p.N155N	NM_000079.3	NP_000070.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	262					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.N262N(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						GGATGATGACGTTGACGATGA	0.577													7	203					0	0	1	0	0	A	175618298	G	A	175618298	2	1	42	1	0	0	0	0	0	0	0	1	3403	1136	40	1		1	CHRNA1	2	175618298	Silent	SNP	G	TCGA-EJ-5504-01A-01D-1576-08	31905887	175618298	67581075	8	2196											
USP37	57695	broad.mit.edu	37	chr2	219353102	219353102	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacgaggaaggtcaatagaGaggtcattaaactgttctct	13	11	10	7	1	3	1	2	0	1	1	4	4	3	2	0	3	2	1	0	3	6	4			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr2:219353102G>T	ENST00000258399.3	-	15	1927	c.1515C>A	c.(1513-1515)ctC>ctA	p.L505L	USP37_ENST00000415516.1_Silent_p.L433L|USP37_ENST00000418019.1_Silent_p.L505L|USP37_ENST00000454775.1_Silent_p.L505L	NM_020935.2	NP_065986.2	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	505					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.L505L(2)		NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		GGTCAATAGAGAGGTCATTAA	0.338													22	151					4.4004e-07	4.69376e-07	1	1	0	T	219353102	G	T	219353102	2	4	42	1	0	0	0	0	0	0	0	1	17128	929	33	4		4	USP37	2	219353102	Silent	SNP	G	TCGA-EJ-5504-01A-01D-1576-08	43734804	219353102	23846271	9	2197											
SCN10A	6336	broad.mit.edu	37	chr3	38833623	38833623	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcccgagtggcactaaaccGggaaatggtcctccctttgt	8	9	12	12	2	0	0	0	0	0	0	2	2	2	1	4	4	1	1	4	4	3	2			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr3:38833623G>A	ENST00000449082.2	-	2	306	c.307C>T	c.(307-309)Cgg>Tgg	p.R103W		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	103					sensory perception	voltage-gated sodium channel complex		p.R103W(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GCACTAAACCGGGAAATGGTC	0.448													5	291					0	0	1	0	0	A	38833623	G	A	38833623	3	1	42	1	0	0	0	0	1	0	0	0	13966	1115	39	1	5667	1	SCN10A	3	38833623	Missense_Mutation	SNP	G	TCGA-EJ-5504-01A-01D-1576-08		38833623	159188807	10	2198											
CXCR6	10663	broad.mit.edu	37	chr3	45988802	45988802	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcatggtgacagaggccatcGcatacctgagggcctgcctt	8	9	12	12	1	1	3	1	2	0	1	2	3	1	3	4	3	2	1	4	3	1	2			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr3:45988802G>A	ENST00000458629.1	+	1	2292	c.829G>A	c.(829-831)Gca>Aca	p.A277T	CXCR6_ENST00000438735.1_Missense_Mutation_p.A277T|FYCO1_ENST00000438446.1_Intron|CXCR6_ENST00000304552.4_Missense_Mutation_p.A277T|FYCO1_ENST00000535325.1_Intron|FYCO1_ENST00000296137.2_Intron|CXCR6_ENST00000457814.1_Missense_Mutation_p.A277T			O00574	CXCR6_HUMAN	chemokine (C-X-C motif) receptor 6	277					viral genome replication	integral to plasma membrane	coreceptor activity	p.A277T(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|lung(1)|prostate(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		AGAGGCCATCGCATACCTGAG	0.507													15	122					0	0	1	0	0	A	45988802	G	A	45988802	3	1	42	1	0	0	0	0	1	0	0	0	4118	1087	38	1	831	1	CXCR6	3	45988802	Missense_Mutation	SNP	G	TCGA-EJ-5504-01A-01D-1576-08	7155179	45988802	152033628	11	2199											
DZIP3	9666	broad.mit.edu	37	chr3	108347996	108347996	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttgacatagatcctacagaAgatgaagatttacctacaac	16	11	6	8	0	0	6	0	2	0	4	1	6	1	6	2	0	4	0	2	0	7	6			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr3:108347996A>G	ENST00000361582.3	+	8	899	c.669A>G	c.(667-669)gaA>gaG	p.E223E	DZIP3_ENST00000463306.1_Silent_p.E223E	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	223					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	p.E223E(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						ATCCTACAGAAGATGAAGATT	0.289													15	168					0	0	1	0	0	G	108347996	A	G	108347996	2	3	42	1	0	0	0	0	0	0	0	1	4891	69	3	3		3	DZIP3	3	108347996	Silent	SNP	A	TCGA-EJ-5504-01A-01D-1576-08	62359194	108347996	89674434	12	2200											
LRRC15	131578	broad.mit.edu	37	chr3	194081448	194081448	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacctgcagcttgttgttggCgaggctgagatagcgcagcg	8	9	15	9	3	0	1	0	1	0	1	0	3	0	1	1	2	5	6	1	2	2	4			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr3:194081448C>T	ENST00000347624.3	-	2	410	c.325G>A	c.(325-327)Gcc>Acc	p.A109T	LRRC15_ENST00000428839.1_Missense_Mutation_p.A115T|LRRC15_ENST00000439944.2_Missense_Mutation_p.A115T	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	109						integral to membrane		p.A109T(3)		biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		TTGTTGTTGGCGAGGCTGAGA	0.597													30	105					0	0	1	0	0	T	194081448	C	T	194081448	3	4	42	1	0	0	0	0	1	0	0	0	9015	768	27	1	1424	1	LRRC15	3	194081448	Missense_Mutation	SNP	C	TCGA-EJ-5504-01A-01D-1576-08	85733452	194081448	3940982	13	2201											
WHSC1	7468	broad.mit.edu	37	chr4	1980396	1980396	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccttggcatcattgtgaCgtgtgtggcaaaccttcgac	7	13	11	10	2	1	1	1	1	0	0	3	2	2	1	2	2	1	2	2	2	1	3			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr4:1980396C>T	ENST00000382895.3	+	24	4289	c.3858C>T	c.(3856-3858)gaC>gaT	p.D1286D	WHSC1_ENST00000508803.1_Silent_p.D1286D|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382888.3_Silent_p.D634D|WHSC1_ENST00000382891.5_Silent_p.D1286D|WHSC1_ENST00000382892.2_Silent_p.D1286D	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	1286					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	p.D1286D(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		ATCATTGTGACGTGTGTGGCA	0.522			T	IGH@	MM								25	100					0	0	1	0	0	T	1980396	C	T	1980396	2	4	42	1	0	0	0	0	0	0	0	1	17422	535	19	1		1	WHSC1	4	1980396	Silent	SNP	C	TCGA-EJ-5504-01A-01D-1576-08		1980396	189173880	14	2202											
PACRGL	133015	broad.mit.edu	37	chr4	20714532	20714532	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acctagactgattcctgtgcTaaaggcagctctggtatgtc	9	12	10	10	0	1	2	0	1	1	1	3	2	2	2	2	2	2	4	2	2	4	4			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr4:20714532T>A	ENST00000360916.5	+	6	879	c.488T>A	c.(487-489)cTa>cAa	p.L163Q	PACRGL_ENST00000513459.1_Missense_Mutation_p.L110Q|PACRGL_ENST00000295290.8_Missense_Mutation_p.L163Q|PACRGL_ENST00000502374.1_Missense_Mutation_p.L110Q|PACRGL_ENST00000502938.1_Intron|PACRGL_ENST00000503585.1_Missense_Mutation_p.L163Q|PACRGL_ENST00000538990.1_Intron|PACRGL_ENST00000444671.2_Intron|PACRGL_ENST00000507634.1_Missense_Mutation_p.L163Q	NM_145048.3	NP_659485.1	Q8N7B6	PACRL_HUMAN	PARK2 co-regulated-like	163							binding	p.L163Q(1)		endometrium(2)|lung(7)|prostate(1)	10						ATTCCTGTGCTAAAGGCAGCT	0.333													57	362					0	0	1	0	0	A	20714532	T	A	20714532	3	1	42	1	0	0	0	0	1	0	0	0	11418	1522	53	5	506	5	PACRGL	4	20714532	Missense_Mutation	SNP	T	TCGA-EJ-5504-01A-01D-1576-08	18734136	20714532	170439744	15	2203											
LRBA	987	broad.mit.edu	37	chr4	151738393	151738393	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgagactgctgacttttttgCtgcaacaatgacacttctgt	9	15	8	9	0	1	3	0	3	1	1	1	4	1	3	0	0	4	3	0	0	2	4			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr4:151738393C>T	ENST00000535741.1	-	31	5661	c.5188G>A	c.(5188-5190)Gca>Aca	p.A1730T	LRBA_ENST00000507224.1_Missense_Mutation_p.A1730T|LRBA_ENST00000357115.3_Missense_Mutation_p.A1730T|LRBA_ENST00000510413.1_Missense_Mutation_p.A1730T			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1730						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	p.A1730T(1)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					GACTTTTTTGCTGCAACAATG	0.363													16	108					0	0	1	0	0	T	151738393	C	T	151738393	3	4	42	1	0	0	0	0	1	0	0	0	8976	797	28	2	3515	2	LRBA	4	151738393	Missense_Mutation	SNP	C	TCGA-EJ-5504-01A-01D-1576-08	131023861	151738393	39415883	16	2204											
PRSS48	345062	broad.mit.edu	37	chr4	152212529	152212529	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	taacactatacacagagtagGcactgtagctgaagctgttg	13	10	10	8	0	0	2	0	1	0	1	0	2	0	2	0	1	4	6	0	1	6	6			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr4:152212529G>A	ENST00000455694.2	+	5	913	c.911G>A	c.(910-912)gGc>gAc	p.G304D	SH3D19_ENST00000604030.1_Intron|PRSS48_ENST00000441586.2_Missense_Mutation_p.G161D	NM_183375.2	NP_899231.2	Q7RTY5	PRS48_HUMAN	protease, serine, 48	304					proteolysis	extracellular region	serine-type endopeptidase activity	p.G304D(1)|p.G313D(1)		kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						CACAGAGTAGGCACTGTAGCT	0.502													5	141					0	0	1	0	0	A	152212529	G	A	152212529	3	1	42	1	0	0	0	0	1	0	0	0	12679	1203	42	2	929	2	PRSS48	4	152212529	Missense_Mutation	SNP	G	TCGA-EJ-5504-01A-01D-1576-08	474136	152212529	38941747	17	2205											
PLEKHG4B	153478	broad.mit.edu	37	chr5	173068	173068	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatgagtttatcgtttgctgCgggaggaagaagtatctgag	10	12	15	4	2	1	3	0	2	1	1	2	6	1	5	0	2	2	4	0	2	4	4			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr5:173068C>T	ENST00000283426.6	+	15	3089	c.3039C>T	c.(3037-3039)tgC>tgT	p.C1013C		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	1013	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.C204C(1)|p.C1013C(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		TCGTTTGCTGCGGGAGGAAGA	0.512													24	148					0	0	1	0	0	T	173068	C	T	173068	2	4	42	1	0	0	0	0	0	0	0	1	12120	776	27	1		1	PLEKHG4B	5	173068	Silent	SNP	C	TCGA-EJ-5504-01A-01D-1576-08		173068	180742192	18	2206											
MCC	4163	broad.mit.edu	37	chr5	112418689	112418689	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgagtgggccaggtgttcaGccacactgctggatacctgc	7	9	14	11	0	1	1	1	1	0	0	1	2	1	2	3	3	4	2	3	3	1	2			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr5:112418689G>C	ENST00000302475.4	-	9	1645	c.1082C>G	c.(1081-1083)gCt>gGt	p.A361G	MCC_ENST00000408903.3_Missense_Mutation_p.A551G|MCC_ENST00000515367.2_Missense_Mutation_p.A298G|MCC_ENST00000514701.3_5'UTR	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN	mutated in colorectal cancers	361					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	p.A361G(1)|p.A551G(1)		endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		CAGGTGTTCAGCCACACTGCT	0.418													26	102					0	0	1	0	0	C	112418689	G	C	112418689	3	2	42	1	0	0	0	0	1	0	0	0	9423	971	34	4	1443	4	MCC	5	112418689	Missense_Mutation	SNP	G	TCGA-EJ-5504-01A-01D-1576-08	112245621	112418689	68496571	19	2207											
PCDHA13	0	broad.mit.edu	37	chr5	140262046	140262046	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctggtgccgcgcctgttcCgggtggcgtccaaaagacac	7	7	14	13	4	0	1	0	0	0	1	2	1	2	1	4	3	2	2	4	3	2	1			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr5:140262046C>T	ENST00000289272.2	+	1	193	c.193C>T	c.(193-195)Cgg>Tgg	p.R65W	PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.R65W|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1												p.R65W(1)		NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCCTGTTCCGGGTGGCGTC	0.617													9	265					0	0	1	0	0	T	140262046	C	T	140262046	3	4	42	1	0	0	0	0	1	0	0	0	11570	643	23	1	195	1	PCDHA13	5	140262046	Missense_Mutation	SNP	C	TCGA-EJ-5504-01A-01D-1576-08	27843357	140262046	40653214	20	2208											
PRPH2	5961	broad.mit.edu	37	chr6	42689807	42689807	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcttccatctggcatacttgGctgggtccagggcgtcgtag	5	11	14	11	2	1	0	0	0	1	0	4	0	3	0	2	4	1	4	2	4	2	4			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr6:42689807G>T	ENST00000230381.5	-	1	505	c.266C>A	c.(265-267)gCc>gAc	p.A89D		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	89					cell adhesion|visual perception	integral to membrane		p.A89D(1)		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)			GGCATACTTGGCTGGGTCCAG	0.537													17	106					1.99824e-07	2.1554e-07	1	1	0	T	42689807	G	T	42689807	3	4	42	1	0	0	0	0	1	0	0	0	12629	1203	42	4	786	4	PRPH2	6	42689807	Missense_Mutation	SNP	G	TCGA-EJ-5504-01A-01D-1576-08		42689807	128425260	21	2209											
ICK	22858	broad.mit.edu	37	chr6	52897365	52897365	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtaaagattttccttcaTgtactcgaagataaaataaa	16	13	6	6	1	1	2	1	0	0	2	3	3	2	2	1	1	1	2	1	1	8	7			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr6:52897365T>G	ENST00000356971.3	-	5	733	c.244A>C	c.(244-246)Atg>Ctg	p.M82L	ICK_ENST00000350082.5_Missense_Mutation_p.M82L	NM_016513.4	NP_057597.2	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	82	Protein kinase.				intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding	p.M82L(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					TTTTCCTTCATGTACTCGAAG	0.323													16	68					0	0	1	0	0	G	52897365	T	G	52897365	3	3	42	1	0	0	0	0	1	0	0	0	7528	1464	51	5	1698	5	ICK	6	52897365	Missense_Mutation	SNP	T	TCGA-EJ-5504-01A-01D-1576-08	10207558	52897365	118217702	22	2210											
FILIP1	27145	broad.mit.edu	37	chr6	76024107	76024107	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	caatctactttcagaacattCcaattctttaactcgactct	12	15	2	12	1	4	1	1	0	3	1	6	2	5	1	1	0	3	0	1	0	5	6			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr6:76024107C>G	ENST00000393004.2	-	5	1662	c.1441G>C	c.(1441-1443)Gaa>Caa	p.E481Q	FILIP1_ENST00000370020.1_Missense_Mutation_p.E382Q|FILIP1_ENST00000237172.7_Missense_Mutation_p.E481Q|FILIP1_ENST00000498523.1_5'UTR			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	481								p.E481Q(1)		breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TCAGAACATTCCAATTCTTTA	0.373													4	262					0	0	1	0	0	G	76024107	C	G	76024107	3	3	42	1	0	0	0	0	1	0	0	0	5927	864	30	4	2208	4	FILIP1	6	76024107	Missense_Mutation	SNP	C	TCGA-EJ-5504-01A-01D-1576-08	23126742	76024107	95090960	23	2211											
ENPP1	5167	broad.mit.edu	37	chr6	132203595	132203595	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aataacaccaaagtgagttaCgggttcctctccccaccacg	12	8	7	14	2	1	1	0	1	1	0	3	1	2	1	5	1	2	2	5	1	4	3			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr6:132203595C>T	ENST00000360971.2	+	21	2231	c.2211C>T	c.(2209-2211)taC>taT	p.Y737Y		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	737	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity	p.Y685Y(2)		autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	AAGTGAGTTACGGGTTCCTCT	0.383													32	179					0	0	1	0	0	T	132203595	C	T	132203595	2	4	42	1	0	0	0	0	0	0	0	1	5157	547	19	1		1	ENPP1	6	132203595	Silent	SNP	C	TCGA-EJ-5504-01A-01D-1576-08	56179488	132203595	38911472	24	2212											
ABCA13	154664	broad.mit.edu	37	chr7	48318519	48318519	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgaaagaaatagctactttAaaaaaaatagatcatttcac	20	11	5	5	0	2	3	2	1	0	2	2	3	2	3	0	0	2	1	0	0	9	6			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr7:48318519A>T	ENST00000435803.1	+	18	7752	c.7728A>T	c.(7726-7728)ttA>ttT	p.L2576F		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2576					transport	integral to membrane	ATP binding|ATPase activity	p.L2576F(3)|p.L2521F(2)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TAGCTACTTTAAAAAAAATAG	0.313													7	200					0	0	1	0	0	T	48318519	A	T	48318519	3	4	42	1	0	0	0	0	1	0	0	0	31	359	13	5	7627	5	ABCA13	7	48318519	Missense_Mutation	SNP	A	TCGA-EJ-5504-01A-01D-1576-08		48318519	110820144	25	2213											
C7orf63	79846	broad.mit.edu	37	chr7	89906575	89906575	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acttaagctttctaattcctAtgaagattttgagttgaaga	13	16	7	5	0	1	5	0	3	1	2	2	5	2	5	1	0	1	2	1	0	5	8			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr7:89906575A>G	ENST00000389297.4	+	11	1333	c.1082A>G	c.(1081-1083)tAt>tGt	p.Y361C	C7orf63_ENST00000316089.8_Missense_Mutation_p.Y361C|C7orf63_ENST00000497910.1_Missense_Mutation_p.Y343C	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN	chromosome 7 open reading frame 63	361							binding	p.Y361C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						TCTAATTCCTATGAAGATTTT	0.299													5	90					0	0	1	0	0	G	89906575	A	G	89906575	3	3	42	1	0	0	0	0	1	0	0	0	2425	449	16	3	1124	3	C7orf63	7	89906575	Missense_Mutation	SNP	A	TCGA-EJ-5504-01A-01D-1576-08	41588056	89906575	69232088	26	2214											
PTPRZ1	5803	broad.mit.edu	37	chr7	121652283	121652283	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaattccttctttcaatgaGatggtttacccttctgaaag	11	15	6	9	0	3	2	1	2	2	1	4	3	4	2	2	1	1	1	2	1	4	6			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr7:121652283G>A	ENST00000393386.2	+	12	3594	c.3183G>A	c.(3181-3183)gaG>gaA	p.E1061E	PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1061					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	p.E1061E(3)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CTTTCAATGAGATGGTTTACC	0.348													32	195					0	0	1	0	0	A	121652283	G	A	121652283	2	1	42	1	0	0	0	0	0	0	0	1	12866	933	33	2		2	PTPRZ1	7	121652283	Silent	SNP	G	TCGA-EJ-5504-01A-01D-1576-08	31745708	121652283	37486380	27	2215											
SLC39A14	23516	broad.mit.edu	37	chr8	22265850	22265850	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctggagacctcttcactGcccacaatttcagcgagcag	9	10	9	13	1	4	1	2	0	2	1	4	3	4	1	2	1	3	2	2	1	1	3			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr8:22265850G>A	ENST00000359741.5	+	3	473	c.298G>A	c.(298-300)Gcc>Acc	p.A100T	SLC39A14_ENST00000289952.5_Missense_Mutation_p.A100T|SLC39A14_ENST00000240095.6_Missense_Mutation_p.A100T|SLC39A14_ENST00000381237.1_Missense_Mutation_p.A100T	NM_015359.4	NP_056174.2	Q15043	S39AE_HUMAN	solute carrier family 39 (zinc transporter), member 14	100						endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane	zinc ion transmembrane transporter activity	p.A100T(1)		NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		CCTCTTCACTGCCCACAATTT	0.587													5	146					0	0	1	0	0	A	22265850	G	A	22265850	3	1	42	1	0	0	0	0	1	0	0	0	14672	1319	46	2	304	2	SLC39A14	8	22265850	Missense_Mutation	SNP	G	TCGA-EJ-5504-01A-01D-1576-08		22265850	124098172	28	2216											
CA8	767	broad.mit.edu	37	chr8	61144866	61144866	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaaacagagcaatgatggCgattccgtgcggcttcccca	12	7	10	12	3	0	2	0	1	0	1	2	3	2	2	3	2	4	2	3	2	3	2			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr8:61144866C>T	ENST00000317995.4	-	4	754	c.490G>A	c.(490-492)Gcc>Acc	p.A164T	CA8_ENST00000528666.1_5'UTR	NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN	carbonic anhydrase VIII	164					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding	p.A164T(1)		endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)				GCAATGATGGCGATTCCGTGC	0.433													6	146					0	0	1	0	0	T	61144866	C	T	61144866	3	4	42	1	0	0	0	0	1	0	0	0	2541	768	27	1	402	1	CA8	8	61144866	Missense_Mutation	SNP	C	TCGA-EJ-5504-01A-01D-1576-08	38879016	61144866	85219156	29	2217											
VPS13B	157680	broad.mit.edu	37	chr8	100866139	100866139	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaacctgctcggttatacGtggaagacacatttgtatac	13	12	8	8	2	0	1	0	0	0	1	1	2	0	2	1	2	4	3	1	2	7	6	rs142957181		TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr8:100866139G>A	ENST00000358544.2	+	56	10708	c.10597G>A	c.(10597-10599)Gtg>Atg	p.V3533M	VPS13B_ENST00000357162.2_Missense_Mutation_p.V3508M|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3533					protein transport			p.V3533M(1)|p.V3508M(1)		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)			TCGGTTATACGTGGAAGACAC	0.408													6	319					0	0	1	0	0	A	100866139	G	A	100866139	3	1	42	1	0	0	0	0	1	0	0	0	17250	1145	40	1	11009	1	VPS13B	8	100866139	Missense_Mutation	SNP	G	TCGA-EJ-5504-01A-01D-1576-08	39721273	100866139	45497883	30	2218											
PKHD1L1	93035	broad.mit.edu	37	chr8	110457746	110457746	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccaatgaagtctactgccGcactcccgctgggaccactg	8	7	9	17	2	1	1	0	1	1	0	2	2	2	2	5	1	2	2	5	1	3	1			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr8:110457746G>A	ENST00000378402.5	+	38	5752	c.5648G>A	c.(5647-5649)cGc>cAc	p.R1883H		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1883	IPT/TIG 11.				immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.R1883H(1)|p.R1885H(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GTCTACTGCCGCACTCCCGCT	0.438										HNSCC(38;0.096)			11	45					0	0	1	0	0	A	110457746	G	A	110457746	3	1	42	1	0	0	0	0	1	0	0	0	12020	1087	38	1	5798	1	PKHD1L1	8	110457746	Missense_Mutation	SNP	G	TCGA-EJ-5504-01A-01D-1576-08	9591607	110457746	35906276	31	2219											
CA9	768	broad.mit.edu	37	chr9	35674081	35674081	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccatccccagaggttgccccGgatgcaggaggattccccct	7	7	11	16	1	0	1	0	0	0	1	2	4	2	4	7	4	2	2	7	4	0	2			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr9:35674081G>A	ENST00000378357.4	+	1	229	c.125G>A	c.(124-126)cGg>cAg	p.R42Q		NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	carbonic anhydrase IX	42	Proteoglycan-like (PG).				one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding	p.R42Q(1)		kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGGTTGCCCCGGATGCAGGAG	0.622													15	81					0	0	1	0	0	A	35674081	G	A	35674081	3	1	42	1	0	0	0	0	1	0	0	0	2542	1116	39	1	127	1	CA9	9	35674081	Missense_Mutation	SNP	G	TCGA-EJ-5504-01A-01D-1576-08		35674081	105539350	32	2220											
TJP2	9414	broad.mit.edu	37	chr9	71841089	71841089	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacagtgactcagaaatagAaggtaaaggaagaggaggct	17	6	14	4	0	1	5	1	2	0	3	1	7	1	7	0	4	0	2	0	4	6	2			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr9:71841089A>G	ENST00000377245.4	+	7	1416	c.1208A>G	c.(1207-1209)gAa>gGa	p.E403G	TJP2_ENST00000265384.7_Missense_Mutation_p.E403G|TJP2_ENST00000535702.1_Missense_Mutation_p.E407G|TJP2_ENST00000348208.4_Missense_Mutation_p.E403G|TJP2_ENST00000539225.1_Missense_Mutation_p.E434G|TJP2_ENST00000453658.2_Missense_Mutation_p.E380G	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	403					cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding	p.E403G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						TCAGAAATAGAAGGTAAAGGA	0.433													11	53					0	0	1	0	0	G	71841089	A	G	71841089	3	3	42	1	0	0	0	0	1	0	0	0	15990	246	9	3	1391	3	TJP2	9	71841089	Missense_Mutation	SNP	A	TCGA-EJ-5504-01A-01D-1576-08	36167008	71841089	69372342	33	2221											
ZBTB34	403341	broad.mit.edu	37	chr9	129642273	129642273	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagctttgcgcagccgcttaCaggaggaggggcactcagac	10	6	14	11	2	1	1	1	0	0	1	1	3	1	3	1	4	4	4	1	4	2	2			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr9:129642273C>T	ENST00000319119.4	+	2	680	c.595C>T	c.(595-597)Cag>Tag	p.Q199*	ZBTB34_ENST00000373452.2_Nonsense_Mutation_p.Q195*	NM_001099270.1	NP_001092740.1	Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	195					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q199*(1)|p.Q195*(1)		endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						CAGCCGCTTACAGGAGGAGGG	0.582													16	83					0	0	1	0	0	T	129642273	C	T	129642273	4	4	42	1	0	0	0	0	0	1	0	0	17596	479	17	2	585	2	ZBTB34	9	129642273	Nonsense_Mutation	SNP	C	TCGA-EJ-5504-01A-01D-1576-08	57801184	129642273	11571158	34	2222											
ZNF365	22891	broad.mit.edu	37	chr10	64159482	64159482	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggggagctcctggggtttggCcgcaaaggcaacatcaggcc	8	6	16	11	1	1	0	1	0	0	0	2	1	2	1	3	7	2	4	3	7	2	1			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr10:64159482C>T	ENST00000395254.3	+	5	1438	c.1158C>T	c.(1156-1158)ggC>ggT	p.G386G	ZNF365_ENST00000395255.3_Intron|ZNF365_ENST00000410046.3_Intron|ZNF365_ENST00000466727.1_3'UTR	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0								p.G386G(2)		breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					TGGGGTTTGGCCGCAAAGGCA	0.537													4	121					0	0	1	0	0	T	64159482	C	T	64159482	2	4	42	1	0	0	0	0	0	0	0	1	17926	726	26	2		2	ZNF365	10	64159482	Silent	SNP	C	TCGA-EJ-5504-01A-01D-1576-08		64159482	71375265	35	2223											
DHX32	55760	broad.mit.edu	37	chr10	127525312	127525312	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgtctcacacatttgctgttCcttattcattgttgacacag	8	16	6	11	1	2	1	2	1	1	0	4	1	3	1	1	0	1	3	1	0	1	6			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr10:127525312C>A	ENST00000284690.3	-	11	2666	c.2176G>T	c.(2176-2178)Gaa>Taa	p.E726*	BCCIP_ENST00000429863.2_Intron|DHX32_ENST00000368721.1_Nonsense_Mutation_p.E350*|DHX32_ENST00000284688.6_Nonsense_Mutation_p.E645*|BCCIP_ENST00000368759.5_Intron|BCCIP_ENST00000299130.3_Intron	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	726						mitochondrion|nucleus	ATP binding|helicase activity	p.E726*(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				ATTTGCTGTTCCTTATTCATT	0.473													11	90					4.68919e-08	5.17428e-08	1	1	0	A	127525312	C	A	127525312	4	1	42	1	0	0	0	0	0	1	0	0	4533	864	30	4	59	4	DHX32	10	127525312	Nonsense_Mutation	SNP	C	TCGA-EJ-5504-01A-01D-1576-08	63365830	127525312	8009435	36	2224											
OR5R1	219479	broad.mit.edu	37	chr11	56185673	56185673	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtaattcctttcagaatGaatacagtgacataaatgat	15	14	7	5	0	1	4	1	3	0	1	2	4	2	4	1	1	1	1	1	1	6	6			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr11:56185673G>T	ENST00000312253.1	-	1	35	c.36C>A	c.(34-36)ttC>ttA	p.F12L		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F12L(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					CTTTCAGAATGAATACAGTGA	0.398													6	235					2.0095e-06	2.09687e-06	1	1	0	T	56185673	G	T	56185673	3	4	42	1	0	0	0	0	1	0	0	0	11227	1281	45	4	940	4	OR5R1	11	56185673	Missense_Mutation	SNP	G	TCGA-EJ-5504-01A-01D-1576-08		56185673	78820843	37	2225											
HRASLS5	117245	broad.mit.edu	37	chr11	63235886	63235886	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atagatggcccagtgctcatAgccaattcgaaaaatctcaa	15	9	7	10	1	2	1	2	0	1	1	4	2	2	1	2	1	2	1	2	1	6	3			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr11:63235886A>T	ENST00000540857.1	-	4	529	c.397T>A	c.(397-399)Tat>Aat	p.Y133N	HRASLS5_ENST00000301790.4_Missense_Mutation_p.Y143N|HRASLS5_ENST00000539221.1_Missense_Mutation_p.Y143N	NM_001146728.1|NM_001146729.1|NM_054108.3	NP_001140200.1|NP_001140201.1|NP_473449.1	Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5	143								p.Y143N(1)		endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						CAGTGCTCATAGCCAATTCGA	0.418													7	180					0	0	1	0	0	T	63235886	A	T	63235886	3	4	42	1	0	0	0	0	1	0	0	0	7392	420	15	5	424	5	HRASLS5	11	63235886	Missense_Mutation	SNP	A	TCGA-EJ-5504-01A-01D-1576-08	7050213	63235886	71770630	38	2226											
SLCO2B1	11309	broad.mit.edu	37	chr11	74883495	74883495	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggtttcctcatcgctgccGgtgcagtggccctggctgcc	2	11	14	14	2	1	0	1	0	0	0	3	0	2	0	4	4	3	4	4	4	0	1	rs150167315		TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr11:74883495G>A	ENST00000289575.5	+	7	1248	c.853G>A	c.(853-855)Ggt>Agt	p.G285S	SLCO2B1_ENST00000526660.1_3'UTR|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.G141S|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.G169S|SLCO2B1_ENST00000531756.1_Missense_Mutation_p.G30S|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.G263S|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.G58S|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.G58S	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	285					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity	p.G285S(1)		breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	CATCGCTGCCGGTGCAGTGGC	0.562													4	118					0	0	1	0	0	A	74883495	G	A	74883495	3	1	42	1	0	0	0	0	1	0	0	0	14782	1116	39	1	879	1	SLCO2B1	11	74883495	Missense_Mutation	SNP	G	TCGA-EJ-5504-01A-01D-1576-08	11647609	74883495	60123021	39	2227											
MMP12	4321	broad.mit.edu	37	chr11	102742648	102742648	+	RNA	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccggattgcgtagtcaacatCctcacggttcatgtcaggtg	8	11	11	11	3	4	0	4	0	0	0	5	1	5	1	2	3	2	2	2	3	2	3			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr11:102742648C>A	ENST00000532855.1	-	0	481							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.D129Y(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	TAGTCAACATCCTCACGGTTC	0.393													10	44					1.58986e-06	1.67722e-06	1	1	0	A	102742648	C	A	102742648	1	1	42	0	1	0	0	0	0	0	0	0	9699	855	30	4		4	MMP12	11	102742648	RNA	SNP	C	TCGA-EJ-5504-01A-01D-1576-08	27859153	102742648	32263868	40	2228											
HINFP	25988	broad.mit.edu	37	chr11	119002676	119002676	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcttagatcacatccgtcgCcagacctcattggatcgtaa	10	12	7	12	3	3	2	2	0	1	2	6	3	4	3	3	1	0	1	3	1	2	4			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr11:119002676C>G	ENST00000350777.2	+	5	723	c.660C>G	c.(658-660)cgC>cgG	p.R220R	HINFP_ENST00000527354.1_3'UTR|HINFP_ENST00000527410.1_Silent_p.R220R	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	220					DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding	p.R220R(2)		endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						ACATCCGTCGCCAGACCTCAT	0.557													21	120					0	0	1	0	0	G	119002676	C	G	119002676	2	3	42	1	0	0	0	0	0	0	0	1	7151	726	26	4		4	HINFP	11	119002676	Silent	SNP	C	TCGA-EJ-5504-01A-01D-1576-08	16260028	119002676	16003840	41	2229											
OR10P1	121130	broad.mit.edu	37	chr12	56030939	56030939	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggccaatctgggctccccGcatccccaggccatctcttt	5	10	8	18	1	2	0	0	0	2	0	5	0	4	0	6	3	0	2	6	3	1	1			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr12:56030939G>A	ENST00000309675.2	+	1	296	c.264G>A	c.(262-264)ccG>ccA	p.P88P		NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P, member 1	88			P -> L (in dbSNP:rs10876838).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P88P(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						TGGGCTCCCCGCATCCCCAGG	0.602													29	148					0	0	1	0	0	A	56030939	G	A	56030939	2	1	42	1	0	0	0	0	0	0	0	1	10963	1074	38	1		1	OR10P1	12	56030939	Silent	SNP	G	TCGA-EJ-5504-01A-01D-1576-08		56030939	77820956	42	2230											
SPRYD4	283377	broad.mit.edu	37	chr12	56863081	56863081	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catgtcccgggatagctgcaTtggtgttgatgatcgttcct	6	14	12	9	2	0	2	0	2	0	0	3	3	2	3	2	2	2	4	2	2	1	4			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr12:56863081T>C	ENST00000338146.5	+	2	419	c.344T>C	c.(343-345)aTt>aCt	p.I115T		NM_207344.3	NP_997227.1	Q8WW59	SPRY4_HUMAN	SPRY domain containing 4	115	B30.2/SPRY.					nucleus		p.I115T(1)		kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)	7						GATAGCTGCATTGGTGTTGAT	0.567													52	256					0	0	1	0	0	C	56863081	T	C	56863081	3	2	42	1	0	0	0	0	1	0	0	0	15166	1493	52	3	350	3	SPRYD4	12	56863081	Missense_Mutation	SNP	T	TCGA-EJ-5504-01A-01D-1576-08	832142	56863081	76988814	43	2231											
GPR133	283383	broad.mit.edu	37	chr12	131498747	131498747	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttccgtctcttcccaaggatCgcggaggccatgcatcacca	8	9	9	15	3	2	0	1	0	1	0	6	2	4	2	4	3	1	1	4	3	1	2	rs144882598	byFrequency	TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr12:131498747C>T	ENST00000261654.5	+	13	1894	c.1335C>T	c.(1333-1335)atC>atT	p.I445I	GPR133_ENST00000535015.1_Silent_p.I477I|GPR133_ENST00000376682.4_Silent_p.I131I	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	445					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.I445I(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TCCCAAGGATCGCGGAGGCCA	0.577													19	106					0	0	1	0	0	T	131498747	C	T	131498747	2	4	42	1	0	0	0	0	0	0	0	1	6683	874	31	1		1	GPR133	12	131498747	Silent	SNP	C	TCGA-EJ-5504-01A-01D-1576-08	74635666	131498747	2353148	44	2232											
MYH6	4624	broad.mit.edu	37	chr14	23862693	23862693	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcttagcgatgatttcaTccagcccagccatctcctct	8	12	6	15	1	4	1	2	1	2	0	6	2	5	1	4	0	4	1	4	0	1	2			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr14:23862693T>C	ENST00000405093.3	-	23	3033	c.2963A>G	c.(2962-2964)gAt>gGt	p.D988G	MYH6_ENST00000356287.3_Missense_Mutation_p.D988G	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	988					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	p.D988G(1)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GATGATTTCATCCAGCCCAGC	0.527													61	253					0	0	1	0	0	C	23862693	T	C	23862693	3	2	42	1	0	0	0	0	1	0	0	0	10086	1435	50	3	2924	3	MYH6	14	23862693	Missense_Mutation	SNP	T	TCGA-EJ-5504-01A-01D-1576-08		23862693	83486847	45	2233											
C14orf178	283579	broad.mit.edu	37	chr14	78227450	78227450	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcgaggaccccaatcaacAacccacctggtgagcgccat	12	6	8	15	2	1	1	1	1	0	0	2	3	1	2	5	2	3	0	5	2	4	1			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr14:78227450A>G	ENST00000355883.3	+	1	274	c.65A>G	c.(64-66)cAa>cGa	p.Q22R	SNW1_ENST00000554775.1_Intron|SNW1_ENST00000555761.1_Intron|C14orf178_ENST00000556047.1_Missense_Mutation_p.Q22R|C14orf178_ENST00000439131.2_5'UTR|SNW1_ENST00000261531.7_Intron|C14orf178_ENST00000557011.1_Missense_Mutation_p.Q22R	NM_174943.3	NP_777603.1	Q8N769	CN178_HUMAN	chromosome 14 open reading frame 178	22								p.Q22R(1)|p.?(1)		large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0273)		CCCAATCAACAACCCACCTGG	0.587													19	98					0	0	1	0	0	G	78227450	A	G	78227450	3	3	42	1	0	0	0	0	1	0	0	0	1767	130	5	3	67	3	C14orf178	14	78227450	Missense_Mutation	SNP	A	TCGA-EJ-5504-01A-01D-1576-08	54364757	78227450	29122090	46	2234											
CKB	1152	broad.mit.edu	37	chr14	103986922	103986922	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccaggaaggtcttattgtCattgtgcctgcgggagggct	7	11	14	9	1	2	0	1	0	1	0	2	2	2	2	2	4	2	1	2	4	2	3			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr14:103986922C>A	ENST00000348956.2	-	6	1018	c.661G>T	c.(661-663)Gac>Tac	p.D221Y		NM_001823.4	NP_001814.2	P12277	KCRB_HUMAN	creatine kinase, brain	221	Phosphagen kinase C-terminal.				creatine metabolic process	cytosol	ATP binding|creatine kinase activity	p.D221Y(1)		lung(2)|prostate(1)	3		Melanoma(154;0.155)	Epithelial(46;0.14)		Creatine(DB00148)	GTCTTATTGTCATTGTGCCTG	0.597													3	33					1	1	1	1	0	A	103986922	C	A	103986922	3	1	42	1	0	0	0	0	1	0	0	0	3469	826	29	4	496	4	CKB	14	103986922	Missense_Mutation	SNP	C	TCGA-EJ-5504-01A-01D-1576-08	25759472	103986922	3362618	47	2235											
JAG2	3714	broad.mit.edu	37	chr14	105622204	105622204	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtggcgctgtagtagttctCgtcgcagcgcacgcggatct	6	10	14	11	6	2	0	0	0	2	0	4	1	2	1	0	2	1	6	0	2	2	3			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr14:105622204C>T	ENST00000331782.3	-	4	1001	c.598G>A	c.(598-600)Gag>Aag	p.E200K	RP11-44N21.4_ENST00000548203.1_RNA|JAG2_ENST00000347004.2_Missense_Mutation_p.E200K	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	200	DSL.				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding	p.E200K(2)		breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		TAGTAGTTCTCGTCGCAGCGC	0.627													6	23					0	0	1	0	0	T	105622204	C	T	105622204	3	4	42	1	0	0	0	0	1	0	0	0	7979	893	31	1	3210	1	JAG2	14	105622204	Missense_Mutation	SNP	C	TCGA-EJ-5504-01A-01D-1576-08	1635282	105622204	1727336	48	2236											
IVD	3712	broad.mit.edu	37	chr15	40698128	40698128	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agcgggcccactcgcttttgCccgtggacgatgcaatcaat	8	9	11	13	4	1	0	1	0	0	0	2	2	1	1	2	2	3	2	2	2	2	2			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr15:40698128C>T	ENST00000249760.2	+	1	443	c.100C>T	c.(100-102)Ccc>Tcc	p.P34S	IVD_ENST00000479013.2_Missense_Mutation_p.P37S|IVD_ENST00000490194.1_3'UTR|IVD_ENST00000487418.2_Missense_Mutation_p.P37S	NM_002225.3	NP_002216.2	P26440	IVD_HUMAN	isovaleryl-CoA dehydrogenase	34					leucine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity	p.P34S(1)|p.P37S(1)		kidney(1)|lung(5)|ovary(2)|prostate(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)		CTCGCTTTTGCCCGTGGACGA	0.672													3	42					0	0	1	0	0	T	40698128	C	T	40698128	3	4	42	1	0	0	0	0	1	0	0	0	7972	739	26	2	111	2	IVD	15	40698128	Missense_Mutation	SNP	C	TCGA-EJ-5504-01A-01D-1576-08		40698128	61833264	49	2237											
TMOD2	29767	broad.mit.edu	37	chr15	52058730	52058730	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagaagaggaactgaaacAgttggaaaatgttctagatg	16	9	11	5	0	2	4	1	1	1	3	2	6	2	6	0	2	2	2	0	2	6	3			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr15:52058730A>G	ENST00000249700.4	+	2	313	c.92A>G	c.(91-93)cAg>cGg	p.Q31R	TMOD2_ENST00000539962.2_5'UTR|TMOD2_ENST00000435126.2_Missense_Mutation_p.Q31R	NM_001142885.1|NM_014548.3	NP_001136357.1|NP_055363.1	Q9NZR1	TMOD2_HUMAN	tropomodulin 2 (neuronal)	31					nervous system development	cytoplasm|cytoskeleton	actin binding|tropomyosin binding	p.Q31R(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16				all cancers(107;0.00435)		GAACTGAAACAGTTGGAAAAT	0.418													29	132					0	0	1	0	0	G	52058730	A	G	52058730	3	3	42	1	0	0	0	0	1	0	0	0	16294	188	7	3	94	3	TMOD2	15	52058730	Missense_Mutation	SNP	A	TCGA-EJ-5504-01A-01D-1576-08	11360602	52058730	50472662	50	2238											
ONECUT1	3175	broad.mit.edu	37	chr15	53081026	53081026	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactccggctcctgcagccaCttccacatcctccggaaggt	8	8	8	17	2	0	0	0	0	0	0	5	1	5	1	6	3	3	2	6	3	2	1			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr15:53081026C>A	ENST00000305901.5	-	1	1183	c.1056G>T	c.(1054-1056)aaG>aaT	p.K352N	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	352					endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding	p.K352N(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		CCTGCAGCCACTTCCACATCC	0.657													20	62					1.37878e-21	1.55721e-21	1	1	0	A	53081026	C	A	53081026	3	1	42	1	0	0	0	0	1	0	0	0	10916	564	20	4	349	4	ONECUT1	15	53081026	Missense_Mutation	SNP	C	TCGA-EJ-5504-01A-01D-1576-08	1022296	53081026	49450366	51	2239											
CLDN9	9080	broad.mit.edu	37	chr16	3063524	3063524	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagggcctgtggatgtcctGcgtggtgcagagcacgggcc	5	7	19	10	2	0	1	0	0	0	1	1	3	1	3	3	5	3	2	3	5	0	0			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr16:3063524G>C	ENST00000445369.2	+	1	1068	c.161G>C	c.(160-162)tGc>tCc	p.C54S		NM_020982.3	NP_066192.1	O95484	CLD9_HUMAN	claudin 9	54					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	p.C54S(1)		endometrium(2)|large_intestine(1)|lung(5)|prostate(2)	10						TGGATGTCCTGCGTGGTGCAG	0.657													24	130					0	0	1	0	0	C	3063524	G	C	3063524	3	2	42	1	0	0	0	0	1	0	0	0	3515	1319	46	4	163	4	CLDN9	16	3063524	Missense_Mutation	SNP	G	TCGA-EJ-5504-01A-01D-1576-08		3063524	87291229	52	2240											
IL4R	3566	broad.mit.edu	37	chr16	27373986	27373986	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttcttccaccttcgggaaGtacgagtgctcacatgccct	7	11	8	15	2	2	0	1	0	1	0	4	2	3	1	4	1	3	2	4	1	2	4			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr16:27373986G>T	ENST00000395762.2	+	11	1572	c.1313G>T	c.(1312-1314)aGt>aTt	p.S438I	IL4R_ENST00000380922.3_Missense_Mutation_p.S423I|IL4R_ENST00000170630.2_Missense_Mutation_p.S438I|IL4R_ENST00000543915.2_Missense_Mutation_p.S438I	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	438	Required for IRS1 activation and IL4- induced cell growth.				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	p.S438I(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						CCTTCGGGAAGTACGAGTGCT	0.612													35	141					9.04072e-19	1.0092e-18	1	1	0	T	27373986	G	T	27373986	3	4	42	1	0	0	0	0	1	0	0	0	7742	1029	36	4	1365	4	IL4R	16	27373986	Missense_Mutation	SNP	G	TCGA-EJ-5504-01A-01D-1576-08	24310462	27373986	62980767	53	2241											
OR3A1	4994	broad.mit.edu	37	chr17	3195519	3195519	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatcggtcataggccatggCggtcagcaggaagcagtcca	11	6	14	10	2	2	0	2	0	0	0	4	2	3	1	2	5	2	2	2	5	3	1			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr17:3195519C>T	ENST00000323404.1	-	1	357	c.358G>A	c.(358-360)Gcc>Acc	p.A120T	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	120				A -> D (in Ref. 6; AAA18347).	sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A120T(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						TAGGCCATGGCGGTCAGCAGG	0.612													9	120					0	0	1	0	0	T	3195519	C	T	3195519	3	4	42	1	0	0	0	0	1	0	0	0	11085	768	27	1	593	1	OR3A1	17	3195519	Missense_Mutation	SNP	C	TCGA-EJ-5504-01A-01D-1576-08		3195519	77999691	54	2242											
SALL3	27164	broad.mit.edu	37	chr18	76753607	76753607	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cactgtccctggcgcgcacgGctacgccgactctcccagcg	5	6	11	19	6	1	0	0	0	1	0	3	1	2	0	3	2	2	2	3	2	1	1			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr18:76753607G>C	ENST00000536229.3	+	1	1926	c.1217G>C	c.(1216-1218)gGc>gCc	p.G406A	SALL3_ENST00000575389.2_Missense_Mutation_p.G539A|SALL3_ENST00000537592.2_Missense_Mutation_p.G539A			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	539					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G539A(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GGCGCGCACGGCTACGCCGAC	0.731													6	10					0	0	1	0	0	C	76753607	G	C	76753607	3	2	42	1	0	0	0	0	1	0	0	0	13864	1203	42	4	1622	4	SALL3	18	76753607	Missense_Mutation	SNP	G	TCGA-EJ-5504-01A-01D-1576-08		76753607	1323641	55	2243											
PLCB4	5332	broad.mit.edu	37	chr20	9364889	9364889	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgcagatatctgatgtcaGatgaaaacgccccagtcttc	11	12	8	10	1	3	4	1	2	2	2	4	4	3	4	2	0	2	1	2	0	3	3			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr20:9364889G>A	ENST00000378501.2	+	11	910	c.895G>A	c.(895-897)Gat>Aat	p.D299N	PLCB4_ENST00000378473.3_Missense_Mutation_p.D299N|PLCB4_ENST00000378493.1_Missense_Mutation_p.D299N|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_Missense_Mutation_p.D299N|PLCB4_ENST00000414679.2_Missense_Mutation_p.D299N|PLCB4_ENST00000334005.3_Missense_Mutation_p.D299N	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	299					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.D299N(2)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TCTGATGTCAGATGAAAACGC	0.408													12	226					0	0	1	0	0	A	9364889	G	A	9364889	3	1	42	1	0	0	0	0	1	0	0	0	12078	942	33	2	937	2	PLCB4	20	9364889	Missense_Mutation	SNP	G	TCGA-EJ-5504-01A-01D-1576-08		9364889	53660631	56	2244											
MYH7B	57644	broad.mit.edu	37	chr20	33575015	33575015	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgctataagatcgtgggcGccctcctgcactttggcaac	7	10	10	14	2	0	1	0	0	0	1	2	1	1	1	3	2	3	3	3	2	3	3			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr20:33575015G>A	ENST00000262873.7	+	14	1290	c.1198G>A	c.(1198-1200)Gcc>Acc	p.A400T		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	358	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity	p.A400T(1)		NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GATCGTGGGCGCCCTCCTGCA	0.587													14	166					0	0	1	0	0	A	33575015	G	A	33575015	3	1	42	1	0	0	0	0	1	0	0	0	10088	1087	38	1	1252	1	MYH7B	20	33575015	Missense_Mutation	SNP	G	TCGA-EJ-5504-01A-01D-1576-08	24210126	33575015	29450505	57	2245											
KCNB1	3745	broad.mit.edu	37	chr20	47989612	47989612	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gttctcaagtttgcacttttCctgaccactggggccttttc	5	16	8	12	0	1	1	1	1	1	0	4	1	2	1	3	2	1	3	3	2	1	6			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr20:47989612C>T	ENST00000371741.4	-	2	2651	c.2485G>A	c.(2485-2487)Gaa>Aaa	p.E829K		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	829					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	p.E829K(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TTGCACTTTTCCTGACCACTG	0.522													7	162					0	0	1	0	0	T	47989612	C	T	47989612	3	4	42	1	0	0	0	0	1	0	0	0	8056	864	30	2	95	2	KCNB1	20	47989612	Missense_Mutation	SNP	C	TCGA-EJ-5504-01A-01D-1576-08	14414597	47989612	15035908	58	2246											
TRAPPC10	7109	broad.mit.edu	37	chr21	45523339	45523339	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccggccggccaggtcttcaActccagctcgggcacacaag	8	5	12	16	3	2	0	1	0	1	0	4	0	3	0	4	4	2	2	4	4	2	1			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr21:45523339A>G	ENST00000291574.4	+	23	3882	c.3707A>G	c.(3706-3708)aAc>aGc	p.N1236S		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	1236					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	p.N1236S(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						CAGGTCTTCAACTCCAGCTCG	0.622													7	39					0	0	1	0	0	G	45523339	A	G	45523339	3	3	42	1	0	0	0	0	1	0	0	0	16518	43	2	3	3797	3	TRAPPC10	21	45523339	Missense_Mutation	SNP	A	TCGA-EJ-5504-01A-01D-1576-08		45523339	2606556	59	2247											
GNB1L	0	broad.mit.edu	37	chr22	19808139	19808139	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgaggagctggcgccccTggggcagcgtctgcagccag	6	5	16	14	2	1	1	0	1	1	0	1	2	1	2	4	4	4	3	4	4	0	0			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr22:19808139T>G	ENST00000329517.6	-	4	472	c.236A>C	c.(235-237)cAg>cCg	p.Q79P	GNB1L_ENST00000405009.1_Missense_Mutation_p.Q79P|GNB1L_ENST00000403325.1_Missense_Mutation_p.Q79P|GNB1L_ENST00000460402.1_Intron	NM_053004.2	NP_443730.1	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1-like	79					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular		p.Q79P(1)		breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					CTGGCGCCCCTGGGGCAGCGT	0.657													5	68					0	0	1	0	0	G	19808139	T	G	19808139	3	3	42	1	0	0	0	0	1	0	0	0	6558	1580	55	5	767	5	GNB1L	22	19808139	Missense_Mutation	SNP	T	TCGA-EJ-5504-01A-01D-1576-08		19808139	31496427	60	2248											
MYO18B	84700	broad.mit.edu	37	chr22	26423244	26423244	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaagcctcgactacgaacGcaagaccaaagtggacttcg	13	5	9	14	4	0	1	0	0	0	1	2	4	0	2	3	1	3	1	3	1	5	2			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chr22:26423244G>A	ENST00000335473.7	+	43	7554	c.7304G>A	c.(7303-7305)cGc>cAc	p.R2435H	MYO18B_ENST00000536101.1_Missense_Mutation_p.R2435H|MYO18B_ENST00000407587.2_Missense_Mutation_p.R2436H	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2435						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	p.R2436H(1)|p.R2435H(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GACTACGAACGCAAGACCAAA	0.562													4	146					0	0	1	0	0	A	26423244	G	A	26423244	3	1	42	1	0	0	0	0	1	0	0	0	10114	1087	38	1	7470	1	MYO18B	22	26423244	Missense_Mutation	SNP	G	TCGA-EJ-5504-01A-01D-1576-08	6615105	26423244	24881322	61	2249											
GLRA2	2742	broad.mit.edu	37	chrX	14748515	14748515	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaaggattgacacgatatctCgagctgccttcccattggcc	10	10	9	12	2	1	1	0	1	1	0	3	4	2	2	3	2	2	1	3	2	2	4			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chrX:14748515C>T	ENST00000218075.4	+	9	1797	c.1267C>T	c.(1267-1269)Cga>Tga	p.R423*	GLRA2_ENST00000443437.2_Nonsense_Mutation_p.R334*|GLRA2_ENST00000355020.4_Nonsense_Mutation_p.R423*	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	423					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	p.R423*(3)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	CACGATATCTCGAGCTGCCTT	0.473													50	71					0	0	1	0	0	T	14748515	C	T	14748515	4	4	42	1	0	0	0	0	0	1	0	0	6497	876	31	1	1373	1	GLRA2	23	14748515	Nonsense_Mutation	SNP	C	TCGA-EJ-5504-01A-01D-1576-08		14748515	140522045	62	2250											
TEX13B	0	broad.mit.edu	37	chrX	107225170	107225170	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggtgcaggcctctttgAcctcgctgggcacctcgctg	4	9	12	16	2	1	1	0	1	1	0	3	1	1	1	4	3	1	4	4	3	0	1			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chrX:107225170A>G	ENST00000302917.1	-	2	280	c.188T>C	c.(187-189)gTc>gCc	p.V63A		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	63								p.V63A(2)		breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						GGCCTCTTTGACCTCGCTGGG	0.597													16	171					0	0	1	0	0	G	107225170	A	G	107225170	3	3	42	1	0	0	0	0	1	0	0	0	15836	275	10	3	758	3	TEX13B	23	107225170	Missense_Mutation	SNP	A	TCGA-EJ-5504-01A-01D-1576-08	92476655	107225170	48045390	63	2251											
GPR50	9248	broad.mit.edu	37	chrX	150348254	150348254	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttttcaggcaacatcttcGtggtcagtctctctgtggcc	5	15	10	11	1	5	0	2	0	3	0	7	0	5	0	1	3	1	2	1	3	1	3			TCGA-EJ-5504-01A-01D-1576-08	TCGA-EJ-5504-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bd30acf-01c3-4c96-a016-63e8dce66217	316ecb66-2802-4972-9bdc-f11fd7f67801	g.chrX:150348254G>A	ENST00000218316.3	+	2	268	c.199G>A	c.(199-201)Gtg>Atg	p.V67M		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	67					cell-cell signaling	integral to plasma membrane	melatonin receptor activity	p.V67M(3)		breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CAACATCTTCGTGGTCAGTCT	0.483													16	437					0	0	1	0	0	A	150348254	G	A	150348254	3	1	42	1	0	0	0	0	1	0	0	0	6737	1145	40	1	205	1	GPR50	23	150348254	Missense_Mutation	SNP	G	TCGA-EJ-5504-01A-01D-1576-08	43123084	150348254	4922306	64	2252											
ASH1L	55870	broad.mit.edu	37	chr1	155451980	155451980	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggaagacttggaaggaggAcaggtagcaatcagctgtgc	12	8	15	6	0	1	1	1	0	0	1	1	5	1	5	0	5	3	3	0	5	4	3			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr1:155451980A>T	ENST00000368346.3	-	3	1320	c.681T>A	c.(679-681)tgT>tgA	p.C227*	ASH1L_ENST00000548830.1_3'UTR|ASH1L_ENST00000392403.3_Nonsense_Mutation_p.C227*			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	227					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	p.C227*(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TGGAAGGAGGACAGGTAGCAA	0.453													67	181					0	0	1	0	0	T	155451980	A	T	155451980	4	4	43	1	0	0	0	0	0	1	0	0	1040	273	10	5	8317	5	ASH1L	1	155451980	Nonsense_Mutation	SNP	A	TCGA-EJ-5505-01A-01D-1576-08		155451980	93798641	1	2253											
NUP133	55746	broad.mit.edu	37	chr1	229635527	229635527	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gcaaggcttggccaatagcgGatagatccttctctggtggc	8	10	13	10	1	1	1	0	0	1	1	3	2	2	2	2	5	1	2	2	5	4	4			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr1:229635527G>C	ENST00000261396.3	-	5	643	c.552C>G	c.(550-552)atC>atG	p.I184M	NUP133_ENST00000366678.3_Missense_Mutation_p.I184M|NUP133_ENST00000366679.1_Missense_Mutation_p.I184M|NUP133_ENST00000537506.1_Missense_Mutation_p.I168M	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	184					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	p.I184M(1)		NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				GCCAATAGCGGATAGATCCTT	0.453													15	88					0	0	1	0	0	C	229635527	G	C	229635527	3	2	43	1	0	0	0	0	1	0	0	0	10802	1164	41	4	3006	4	NUP133	1	229635527	Missense_Mutation	SNP	G	TCGA-EJ-5505-01A-01D-1576-08	74183547	229635527	19615094	2	2254											
ATP6V1C2	245973	broad.mit.edu	37	chr2	10918726	10918726	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctgcgctggctcaaggtgaActtcagtgaagccttcattg	8	11	12	10	1	3	2	3	2	0	0	3	2	3	2	1	2	3	3	1	2	3	3			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr2:10918726A>C	ENST00000381661.3	+	11	963	c.854A>C	c.(853-855)aAc>aCc	p.N285T	ATP6V1C2_ENST00000272238.4_Missense_Mutation_p.N331T	NM_144583.3	NP_653184.2	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	331					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain		p.N285T(1)|p.N331T(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		CTCAAGGTGAACTTCAGTGAA	0.602													21	100					0	0	1	0	0	C	10918726	A	C	10918726	3	2	43	1	0	0	0	0	1	0	0	0	1179	43	2	5	1034	5	ATP6V1C2	2	10918726	Missense_Mutation	SNP	A	TCGA-EJ-5505-01A-01D-1576-08		10918726	232280647	3	2255											
PTH2R	5746	broad.mit.edu	37	chr2	209358096	209358096	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcagtgctcaccaccgtGacgcacagcaccagcagcca	10	4	10	17	2	2	1	2	1	0	0	2	1	2	1	4	1	4	5	4	1	0	0			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr2:209358096G>T	ENST00000272847.2	+	13	1578	c.1365G>T	c.(1363-1365)gtG>gtT	p.V455V	AC019185.4_ENST00000424628.1_RNA|PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	455						integral to plasma membrane	parathyroid hormone receptor activity	p.V455V(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		TCACCACCGTGACGCACAGCA	0.612													3	20					6.4e-05	6.52451e-05	1	1	0	T	209358096	G	T	209358096	2	4	43	1	0	0	0	0	0	0	0	1	12810	1277	45	4		4	PTH2R	2	209358096	Silent	SNP	G	TCGA-EJ-5505-01A-01D-1576-08	198439370	209358096	33841277	4	2256											
DOCK10	55619	broad.mit.edu	37	chr2	225717687	225717687	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggctatcatacttgaggtGtttggggtaaatataaattt	11	16	10	4	0	1	1	1	1	0	0	1	1	1	1	0	4	1	3	0	4	7	8			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr2:225717687G>T	ENST00000409592.3	-	17	2136	c.2023C>A	c.(2023-2025)Cac>Aac	p.H675N	DOCK10_ENST00000258390.7_Missense_Mutation_p.H681N			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	681	DHR-1.						GTP binding	p.H681N(2)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TACTTGAGGTGTTTGGGGTAA	0.338													29	124					3.80469e-20	4.2904e-20	1	1	0	T	225717687	G	T	225717687	3	4	43	1	0	0	0	0	1	0	0	0	4712	1377	48	4	4679	4	DOCK10	2	225717687	Missense_Mutation	SNP	G	TCGA-EJ-5505-01A-01D-1576-08	16359591	225717687	17481686	5	2257											
DUSP7	1849	broad.mit.edu	37	chr3	52088081	52088081	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgggtaggttgggtgtgacaTtgaggatatacttgatgcca	9	13	15	4	0	0	3	0	3	0	0	0	4	0	4	1	4	2	2	1	4	3	6			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr3:52088081T>C	ENST00000495880.1	-	2	1010	c.827A>G	c.(826-828)aAt>aGt	p.N276S	DUSP7_ENST00000296483.6_Missense_Mutation_p.N225S			Q16829	DUS7_HUMAN	dual specificity phosphatase 7	276					inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity	p.N225S(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GGGTGTGACATTGAGGATATA	0.582													47	169					0	0	1	0	0	C	52088081	T	C	52088081	3	2	43	1	0	0	0	0	1	0	0	0	4856	1493	52	3	440	3	DUSP7	3	52088081	Missense_Mutation	SNP	T	TCGA-EJ-5505-01A-01D-1576-08		52088081	145934349	6	2258											
ZBBX	79740	broad.mit.edu	37	chr3	167068219	167068219	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagccatacctgcaaaagagTtgttctgtggagctttagtg	11	12	11	7	0	1	1	0	0	1	1	1	2	1	2	2	1	4	4	2	1	5	5			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr3:167068219T>C	ENST00000392766.2	-	9	857	c.517A>G	c.(517-519)Act>Gct	p.T173A	ZBBX_ENST00000392764.1_Missense_Mutation_p.T144A|ZBBX_ENST00000455345.2_Missense_Mutation_p.T173A|ZBBX_ENST00000392767.2_Missense_Mutation_p.T173A|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000307529.5_Missense_Mutation_p.T173A	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	173						intracellular	zinc ion binding	p.T173A(2)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TGCAAAAGAGTTGTTCTGTGG	0.328													75	310					0	0	1	0	0	C	167068219	T	C	167068219	3	2	43	1	0	0	0	0	1	0	0	0	17576	1725	60	3	1937	3	ZBBX	3	167068219	Missense_Mutation	SNP	T	TCGA-EJ-5505-01A-01D-1576-08	114980138	167068219	30954211	7	2259											
DCHS2	54798	broad.mit.edu	37	chr4	155256174	155256174	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcattaatgacagctgtgagCccaccaccgtcttgagcaga	11	8	10	12	1	1	4	0	3	1	1	1	4	1	4	3	0	3	3	3	0	1	2			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr4:155256174C>G	ENST00000357232.3	-	8	1061	c.1062G>C	c.(1060-1062)ggG>ggC	p.G354G	DCHS2_ENST00000507542.1_5'UTR|DCHS2_ENST00000339452.1_Silent_p.G853G	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	354	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G853G(1)|p.G354G(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CAGCTGTGAGCCCACCACCGT	0.423													28	132					0	0	1	0	0	G	155256174	C	G	155256174	2	3	43	1	0	0	0	0	0	0	0	1	4311	726	26	4		4	DCHS2	4	155256174	Silent	SNP	C	TCGA-EJ-5505-01A-01D-1576-08		155256174	35898102	8	2260											
HSPA1B	3304	broad.mit.edu	37	chr6	31797488	31797488	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggacgccaacaccttggcCgagaaggacgagtttgagca	11	6	13	11	3	0	2	0	1	0	1	0	6	0	4	3	3	2	2	3	3	2	2			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr6:31797488C>G	ENST00000375650.3	+	1	1977	c.1761C>G	c.(1759-1761)gcC>gcG	p.A587A	HSPA1B_ENST00000545241.1_Silent_p.A496A	NM_005346.4	NP_005337.2	P08107	HSP71_HUMAN	heat shock 70kDa protein 1B	587					anti-apoptosis|mRNA catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|protein refolding|response to unfolded protein	cytosol|endoplasmic reticulum|inclusion body|mitochondrion|nuclear speck|perinuclear region of cytoplasm|ribonucleoprotein complex	ATP binding|protein binding involved in protein folding|protein N-terminus binding|receptor activity|ubiquitin protein ligase binding|unfolded protein binding	p.A587A(1)		breast(1)|large_intestine(1)|prostate(1)	3						ACACCTTGGCCGAGAAGGACG	0.597													9	48					0	0	1	0	0	G	31797488	C	G	31797488	2	3	43	1	0	0	0	0	0	0	0	1	7452	639	23	4		4	HSPA1B	6	31797488	Silent	SNP	C	TCGA-EJ-5505-01A-01D-1576-08		31797488	139317579	9	2261											
PI16	221476	broad.mit.edu	37	chr6	36927000	36927000	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacaacaaggagcgcgggcGccgcggcgagaatctgttcg	9	4	15	13	7	1	1	0	0	1	1	2	3	1	2	2	3	2	1	2	3	3	1	rs139393851		TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr6:36927000G>A	ENST00000373674.3	+	2	579	c.251G>A	c.(250-252)cGc>cAc	p.R84H		NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN	peptidase inhibitor 16	84						extracellular region|integral to membrane	peptidase inhibitor activity	p.R84H(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GAGCGCGGGCGCCGCGGCGAG	0.667													9	14					0	0	1	0	0	A	36927000	G	A	36927000	3	1	43	1	0	0	0	0	1	0	0	0	11917	1087	38	1	257	1	PI16	6	36927000	Missense_Mutation	SNP	G	TCGA-EJ-5505-01A-01D-1576-08	5129512	36927000	134188067	10	2262											
EFHC1	114327	broad.mit.edu	37	chr6	52288788	52288803	+	Frame_Shift_Del	DEL	CTATGCAATTGTTCGA	CTATGCAATTGTTCGA	-																															acgctgagctacaggaacggCtatgcaattgttcgacgtcc																										TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr6:52288788_52288803delCTATGCAATTGTTCGA	ENST00000371068.5	+	2	211_226	c.108_123delCTATGCAATTGTTCGA	c.(106-123)ggfs	p.GYAIVR36fs	EFHC1_ENST00000538167.1_Frame_Shift_Del_p.GYAIVR17fs|EFHC1_ENST00000433625.2_5'UTR|EFHC1_ENST00000491749.1_3'UTR	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	36						axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					ACAGGAACGGCTATGCAATTGTTCGACGTCCAACAG	0.458													27	164	---	---	---	---						-	52288803	CTATGCAATTGTTCGA	-	52288788	7	5	43	1	0	1	0	1	0	0	0	0	4972	784	28	0	124	0	EFHC1	6	52288788	Frame_Shift_Del	DEL	CTATGCAATTGTTCGA	TCGA-EJ-5505-01A-01D-1576-08	15361788	52288788	118826279	11	2263											
RAC1	5879	broad.mit.edu	37	chr7	6431629	6431629	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttatgggatacagctggacAagaagattatgacagattac	15	10	10	6	0	0	4	0	1	0	3	0	6	0	6	0	2	3	1	0	2	6	4			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr7:6431629A>G	ENST00000348035.4	+	3	395	c.182A>G	c.(181-183)cAa>cGa	p.Q61R	RAC1_ENST00000488373.1_3'UTR|RAC1_ENST00000356142.4_Missense_Mutation_p.Q61R	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	61					actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding	p.Q61R(1)		cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	ACAGCTGGACAAGAAGATTAT	0.403													12	226					0	0	1	0	0	G	6431629	A	G	6431629	3	3	43	1	0	0	0	0	1	0	0	0	13026	130	5	3	192	3	RAC1	7	6431629	Missense_Mutation	SNP	A	TCGA-EJ-5505-01A-01D-1576-08		6431629	152707034	12	2264											
BRAF	673	broad.mit.edu	37	chr7	140501299	140501299	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cacatgtttgacagcggaaaCcctggaaaagcagctttcga	13	8	10	10	2	0	1	0	1	0	0	1	4	0	3	1	2	4	3	1	2	3	2			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr7:140501299C>A	ENST00000288602.6	-	6	833	c.773G>T	c.(772-774)gGt>gTt	p.G258V		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	258					activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.G258V(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	ACAGCGGAAACCCTGGAAAAG	0.368		61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				11	75					3.86212e-05	4.09385e-05	1	1	0	A	140501299	C	A	140501299	3	1	43	1	0	0	0	0	1	0	0	0	1498	507	18	4	1579	4	BRAF	7	140501299	Missense_Mutation	SNP	C	TCGA-EJ-5505-01A-01D-1576-08	134069670	140501299	18637364	13	2265											
MLLT3	4300	broad.mit.edu	37	chr9	20620724	20620724	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagtgctgtatgttactgTgctccggaccgcgtacgaac	9	10	11	11	4	0	0	0	0	0	0	1	2	1	1	2	1	5	5	2	1	5	3			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr9:20620724T>C	ENST00000380338.4	-	2	408	c.122A>G	c.(121-123)cAc>cGc	p.H41R	MLLT3_ENST00000429426.2_Missense_Mutation_p.H38R|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	41	YEATS.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.H41R(1)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		TATGTTACTGTGCTCCGGACC	0.547			T	MLL	ALL								47	216					0	0	1	0	0	C	20620724	T	C	20620724	3	2	43	1	0	0	0	0	1	0	0	0	9676	1696	59	3	1624	3	MLLT3	9	20620724	Missense_Mutation	SNP	T	TCGA-EJ-5505-01A-01D-1576-08		20620724	120592707	14	2266											
RFK	55312	broad.mit.edu	37	chr9	79002418	79002418	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttcttagcttcttcaataTcaccttgaattgctgaaata	11	17	5	8	0	4	2	2	2	2	0	4	2	4	2	1	0	2	3	1	0	6	8			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr9:79002418T>A	ENST00000376736.1	-	4	698	c.365A>T	c.(364-366)gAt>gTt	p.D122V		NM_018339.5	NP_060809.3	Q969G6	RIFK_HUMAN	riboflavin kinase	122					riboflavin biosynthetic process	cytosol	ATP binding|metal ion binding|riboflavin kinase activity	p.D129V(1)		pancreas(1)|prostate(1)|urinary_tract(1)	3					Riboflavin(DB00140)	TTCTTCAATATCACCTTGAAT	0.333													15	267					0	0	1	0	0	A	79002418	T	A	79002418	3	1	43	1	0	0	0	0	1	0	0	0	13303	1435	50	5	106	5	RFK	9	79002418	Missense_Mutation	SNP	T	TCGA-EJ-5505-01A-01D-1576-08	58381694	79002418	62211013	15	2267											
C1QL3	389941	broad.mit.edu	37	chr10	16562941	16562941	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgggcgtggcagcggtgcTgggcgccttggtgcccccgt	1	8	19	13	5	0	0	0	0	0	0	1	0	0	0	3	5	3	2	3	5	0	1			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr10:16562941T>A	ENST00000298943.3	-	1	1063	c.124A>T	c.(124-126)Agc>Tgc	p.S42C		NM_001010908.1	NP_001010908.1	Q5VWW1	C1QL3_HUMAN	complement component 1, q subcomponent-like 3	42						collagen		p.S42C(1)		breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	13						GCAGCGGTGCTGGGCGCCTTG	0.736													2	3					0	0	1	0	0	A	16562941	T	A	16562941	3	1	43	1	0	0	0	0	1	0	0	0	1973	1580	55	5	651	5	C1QL3	10	16562941	Missense_Mutation	SNP	T	TCGA-EJ-5505-01A-01D-1576-08		16562941	118971806	16	2268											
MLLT10	8028	broad.mit.edu	37	chr10	21962615	21962615	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggcatagaagaagaaactgTaaaggaaaagaaaaggaaag	23	4	12	2	0	0	4	0	0	0	4	0	6	0	6	0	3	1	2	0	3	11	2			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr10:21962615T>A	ENST00000377072.3	+	11	1736	c.1388T>A	c.(1387-1389)gTa>gAa	p.V463E	MLLT10_ENST00000307729.7_Missense_Mutation_p.V463E|MLLT10_ENST00000446906.2_Missense_Mutation_p.V463E|MLLT10_ENST00000377059.3_Missense_Mutation_p.V463E	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	463	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V463E(2)		NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GAAGAAACTGTAAAGGAAAAG	0.398			T	"MLL, PICALM, CDK6"	AL								10	390					0	0	1	0	0	A	21962615	T	A	21962615	3	1	43	1	0	0	0	0	1	0	0	0	9674	1638	57	5	1426	5	MLLT10	10	21962615	Missense_Mutation	SNP	T	TCGA-EJ-5505-01A-01D-1576-08	5399674	21962615	113572132	17	2269											
XRRA1	143570	broad.mit.edu	37	chr11	74618288	74618288	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggaacctcaggatgtacctCttgcttgtcagcgatgttac	8	12	11	10	1	3	0	2	0	1	0	3	3	3	2	2	2	5	3	2	2	3	4			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr11:74618288C>G	ENST00000340360.6	-	9	994	c.663G>C	c.(661-663)aaG>aaC	p.K221N	RP11-147I3.1_ENST00000533875.1_RNA|XRRA1_ENST00000527087.1_Missense_Mutation_p.K221N|XRRA1_ENST00000321448.8_5'UTR	NM_182969.2	NP_892014.1	Q6P2D8	XRRA1_HUMAN	X-ray radiation resistance associated 1	221					response to X-ray	cytoplasm|nucleus		p.K221N(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						GGATGTACCTCTTGCTTGTCA	0.542													20	105					0	0	1	0	0	G	74618288	C	G	74618288	3	3	43	1	0	0	0	0	1	0	0	0	17521	912	32	4	1759	4	XRRA1	11	74618288	Missense_Mutation	SNP	C	TCGA-EJ-5505-01A-01D-1576-08		74618288	60388228	18	2270											
HEPHL1	341208	broad.mit.edu	37	chr11	93803647	93803647	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcagctgaaaaaattcttTgggattatgctcctcaaggc	12	12	9	8	0	2	1	1	1	1	0	3	2	3	2	1	2	3	3	1	2	6	4			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr11:93803647T>C	ENST00000315765.9	+	6	1179	c.1171T>C	c.(1171-1173)Tgg>Cgg	p.W391R		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	391	Plastocyanin-like 3.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	p.W392R(1)|p.W391R(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				AAAAATTCTTTGGGATTATGC	0.438													15	33					0	0	1	0	0	C	93803647	T	C	93803647	3	2	43	1	0	0	0	0	1	0	0	0	7096	1812	63	3	1193	3	HEPHL1	11	93803647	Missense_Mutation	SNP	T	TCGA-EJ-5505-01A-01D-1576-08	19185359	93803647	41202869	19	2271											
BSX	390259	broad.mit.edu	37	chr11	122848489	122848489	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggtggcggcctctgaaccGcgggggctgccctcggggct	2	6	19	14	5	1	1	0	1	1	0	2	1	1	1	3	7	2	2	3	7	1	0			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr11:122848489G>A	ENST00000343035.2	-	3	618	c.570C>T	c.(568-570)cgC>cgT	p.R190R		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	190								p.R190R(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		CCTCTGAACCGCGGGGGCTGC	0.657													3	21					0	0	1	0	0	A	122848489	G	A	122848489	2	1	43	1	0	0	0	0	0	0	0	1	1537	1074	38	1		1	BSX	11	122848489	Silent	SNP	G	TCGA-EJ-5505-01A-01D-1576-08	29044842	122848489	12158027	20	2272											
OR4D5	219875	broad.mit.edu	37	chr11	123810477	123810477	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgtggtcatagtgacctccGacccacacctgcacacaacc	10	8	7	16	1	1	1	1	1	0	0	2	2	2	1	5	1	2	1	5	1	2	2			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr11:123810477G>A	ENST00000307033.2	+	1	228	c.154G>A	c.(154-156)Gac>Aac	p.D52N		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D52N(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		AGTGACCTCCGACCCACACCT	0.443													62	188					0	0	1	0	0	A	123810477	G	A	123810477	3	1	43	1	0	0	0	0	1	0	0	0	11105	1058	37	1	156	1	OR4D5	11	123810477	Missense_Mutation	SNP	G	TCGA-EJ-5505-01A-01D-1576-08	961988	123810477	11196039	21	2273											
KRT73	319101	broad.mit.edu	37	chr12	53005086	53005086	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcaggtcatccccatgccGgccggctgctagctgcagct	5	10	11	15	2	2	0	2	0	0	0	3	0	3	0	4	3	5	5	4	3	1	2	rs150273425		TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr12:53005086G>A	ENST00000305748.3	-	6	1046	c.1012C>T	c.(1012-1014)Cgg>Tgg	p.R338W	RP11-641A6.2_ENST00000551089.1_RNA|RP11-641A6.2_ENST00000549180.1_RNA|RP11-641A6.2_ENST00000552364.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	338	Coil 2.|Rod.					keratin filament	structural molecule activity	p.R338W(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCCCCATGCCGGCCGGCTGCT	0.537													21	107					0	0	1	0	0	A	53005086	G	A	53005086	3	1	43	1	0	0	0	0	1	0	0	0	8529	1115	39	1	626	1	KRT73	12	53005086	Missense_Mutation	SNP	G	TCGA-EJ-5505-01A-01D-1576-08		53005086	80846809	22	2274											
TIMELESS	8914	broad.mit.edu	37	chr12	56817470	56817470	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcttcttcctctgccccaCgttcctctgggccctgctgc	1	14	7	19	1	4	0	0	0	4	0	6	0	6	0	5	1	3	2	5	1	0	4			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr12:56817470C>T	ENST00000229201.4	-	17	2139	c.1985G>A	c.(1984-1986)cGt>cAt	p.R662H	TIMELESS_ENST00000554616.1_Intron|TIMELESS_ENST00000553532.1_Missense_Mutation_p.R663H	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	663	Glu-rich.				cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		p.R663H(1)		NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						ctcTGCCCCACGTTCCTCTGG	0.502													13	40					0	0	1	0	0	T	56817470	C	T	56817470	3	4	43	1	0	0	0	0	1	0	0	0	15964	536	19	1	1690	1	TIMELESS	12	56817470	Missense_Mutation	SNP	C	TCGA-EJ-5505-01A-01D-1576-08	3812384	56817470	77034425	23	2275											
FAM63B	54629	broad.mit.edu	37	chr15	59064095	59064095	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagcgacccgagccctccTggggaatctccgagcctgga	7	6	13	15	3	1	0	0	0	1	0	3	5	2	2	5	3	4	1	5	3	1	0			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr15:59064095T>G	ENST00000559228.1	+	1	583	c.501T>G	c.(499-501)ccT>ccG	p.P167P	FAM63B_ENST00000450403.2_Silent_p.P167P			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	167								p.P167P(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						CGAGCCCTCCTGGGGAATCTC	0.632													4	32					0	0	1	0	0	G	59064095	T	G	59064095	2	3	43	1	0	0	0	0	0	0	0	1	5632	1567	55	5		5	FAM63B	15	59064095	Silent	SNP	T	TCGA-EJ-5505-01A-01D-1576-08		59064095	43467297	24	2276											
SCNN1B	0	broad.mit.edu	37	chr16	23360195	23360195	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcttcaagaccatggactTccctgccgtcaccatctgca	9	9	8	15	1	3	1	2	0	1	1	4	2	4	2	4	2	2	2	4	2	1	2			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr16:23360195T>C	ENST00000343070.2	+	2	451	c.275T>C	c.(274-276)tTc>tCc	p.F92S	SCNN1B_ENST00000307331.5_Missense_Mutation_p.F137S|SCNN1B_ENST00000568923.1_Missense_Mutation_p.F92S|SCNN1B_ENST00000568085.1_Missense_Mutation_p.F92S|SCNN1B_ENST00000569789.1_3'UTR	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	92					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding	p.F92S(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	ACCATGGACTTCCCTGCCGTC	0.587													4	45					0	0	1	0	0	C	23360195	T	C	23360195	3	2	43	1	0	0	0	0	1	0	0	0	13982	1783	62	3	277	3	SCNN1B	16	23360195	Missense_Mutation	SNP	T	TCGA-EJ-5505-01A-01D-1576-08		23360195	66994558	25	2277											
C16orf54	283897	broad.mit.edu	37	chr16	29755663	29755663	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatctgctccaaggtgacccGtggctggaggccccactcag	7	7	13	14	1	2	1	1	1	1	0	3	3	3	2	4	4	1	2	4	4	1	0			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr16:29755663G>A	ENST00000329410.3	-	2	705	c.610C>T	c.(610-612)Cgg>Tgg	p.R204W		NM_175900.3	NP_787096.2	Q6UWD8	CP054_HUMAN	chromosome 16 open reading frame 54	204						integral to membrane		p.R204W(1)		breast(1)|central_nervous_system(1)|lung(2)|prostate(1)|urinary_tract(1)	6						AAGGTGACCCGTGGCTGGAGG	0.667													6	31					0	0	1	0	0	A	29755663	G	A	29755663	3	1	43	1	0	0	0	0	1	0	0	0	1826	1144	40	1	68	1	C16orf54	16	29755663	Missense_Mutation	SNP	G	TCGA-EJ-5505-01A-01D-1576-08	6395468	29755663	60599090	26	2278											
ITGAD	3681	broad.mit.edu	37	chr16	31427932	31427932	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtcagcctctactatccaGcagggctgtcgcaccgacgg	7	8	12	14	3	2	0	1	0	1	0	4	1	3	0	3	3	3	3	3	3	2	2	rs143518464		TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr16:31427932G>A	ENST00000389202.2	+	20	2513	c.2464G>A	c.(2464-2466)Gca>Aca	p.A822T		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	822					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	p.A822T(2)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CTACTATCCAGCAGGGCTGTC	0.622													41	132					0	0	1	0	0	A	31427932	G	A	31427932	3	1	43	1	0	0	0	0	1	0	0	0	7928	971	34	2	2542	2	ITGAD	16	31427932	Missense_Mutation	SNP	G	TCGA-EJ-5505-01A-01D-1576-08	1672269	31427932	58926821	27	2279											
CNOT1	23019	broad.mit.edu	37	chr16	58621140	58621140	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagctggaagaattcaacAgggcaaggccaaaaattacc	16	6	10	9	0	1	2	1	1	0	1	1	3	1	3	2	3	3	2	2	3	7	2			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr16:58621140A>C	ENST00000317147.5	-	6	730	c.398T>G	c.(397-399)cTg>cGg	p.L133R	CNOT1_ENST00000569240.1_Missense_Mutation_p.L133R|CNOT1_ENST00000441024.2_Missense_Mutation_p.L133R	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	133					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		p.L133R(2)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		AGAATTCAACAGGGCAAGGCC	0.338													29	135					0	0	1	0	0	C	58621140	A	C	58621140	3	2	43	1	0	0	0	0	1	0	0	0	3640	188	7	5	7130	5	CNOT1	16	58621140	Missense_Mutation	SNP	A	TCGA-EJ-5505-01A-01D-1576-08	27193208	58621140	31733613	28	2280											
SPOP	8405	broad.mit.edu	37	chr17	47696688	47696688	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacagctgaccagtaacaggTaaagtgacaggtaatctttg	14	9	11	7	0	1	2	0	2	1	0	1	3	1	2	1	2	2	4	1	2	4	4			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr17:47696688T>G	ENST00000393331.3	-	6	730	c.260A>C	c.(259-261)tAc>tCc	p.Y87S	SPOP_ENST00000513080.1_5'UTR|SPOP_ENST00000504102.1_Missense_Mutation_p.Y87S|SPOP_ENST00000503676.1_Missense_Mutation_p.Y87S|SPOP_ENST00000393328.2_Missense_Mutation_p.Y87S|SPOP_ENST00000347630.2_Missense_Mutation_p.Y87S	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	87	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.Y87C(2)|p.Y87S(2)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CAGTAACAGGTAAAGTGACAG	0.403										Prostate(2;0.17)			44	199					0	0	1	0	0	G	47696688	T	G	47696688	3	3	43	1	0	0	0	0	1	0	0	0	15140	1638	57	5	892	5	SPOP	17	47696688	Missense_Mutation	SNP	T	TCGA-EJ-5505-01A-01D-1576-08		47696688	33498522	29	2281											
DNMT1	1786	broad.mit.edu	37	chr19	10265299	10265299	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cccagccagcttgatcaggtCccgcatgcagggtgtcagga	8	7	13	13	1	2	1	2	1	0	0	3	2	3	2	3	3	3	3	3	3	0	1			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr19:10265299C>T	ENST00000340748.4	-	20	1982	c.1747G>A	c.(1747-1749)Gac>Aac	p.D583N	DNMT1_ENST00000540357.1_Missense_Mutation_p.D583N|DNMT1_ENST00000359526.4_Missense_Mutation_p.D599N			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	583	Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	p.D583N(2)		breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	TTGATCAGGTCCCGCATGCAG	0.622													25	98					0	0	1	0	0	T	10265299	C	T	10265299	3	4	43	1	0	0	0	0	1	0	0	0	4702	855	30	2	3187	2	DNMT1	19	10265299	Missense_Mutation	SNP	C	TCGA-EJ-5505-01A-01D-1576-08		10265299	48863684	30	2282											
CYP2A6	1548	broad.mit.edu	37	chr19	41351368	41351368	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcttgccgatcactctgtcaAtctcctcatggaccttggct	6	14	7	14	1	6	0	3	0	3	0	7	2	6	1	3	2	1	1	3	2	1	2	rs146206761	byFrequency	TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr19:41351368A>G	ENST00000301141.5	-	7	1012	c.992T>C	c.(991-993)aTt>aCt	p.I331T	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753.3	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	331					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding	p.I331T(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	CACTCTGTCAATCTCCTCATG	0.537													5	173					0	0	1	0	0	G	41351368	A	G	41351368	3	3	43	1	0	0	0	0	1	0	0	0	4185	101	4	3	504	3	CYP2A6	19	41351368	Missense_Mutation	SNP	A	TCGA-EJ-5505-01A-01D-1576-08	31086069	41351368	17777615	31	2283											
LIG1	3978	broad.mit.edu	37	chr19	48654539	48654539	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgggctggtccccgtcttctCcttccttctctgtggccact	1	15	9	16	1	3	0	0	0	3	0	7	0	5	0	5	3	0	1	5	3	0	3			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr19:48654539C>T	ENST00000263274.7	-	7	943	c.524G>A	c.(523-525)gGa>gAa	p.G175E	LIG1_ENST00000427526.2_Missense_Mutation_p.G144E|LIG1_ENST00000536218.1_Intron|LIG1_ENST00000599165.1_5'UTR	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	175					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding	p.G175E(2)		breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	CCCGTCTTCTCCTTCCTTCTC	0.567								Nucleotide excision repair (NER)					66	248					0	0	1	0	0	T	48654539	C	T	48654539	3	4	43	1	0	0	0	0	1	0	0	0	8821	855	30	2	2323	2	LIG1	19	48654539	Missense_Mutation	SNP	C	TCGA-EJ-5505-01A-01D-1576-08	7303171	48654539	10474444	32	2284											
ZNF761	388561	broad.mit.edu	37	chr19	53960338	53960338	+	RNA	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaccttaccagtgtaatgAgtgtggcaaagcctttagta	13	11	10	7	0	0	1	0	1	0	0	0	2	0	1	3	1	3	3	3	1	6	5	rs2708740	by1000genomes	TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr19:53960338A>G	ENST00000454407.1	+	0	3030							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		CAGTGTAATGAGTGTGGCAAA	0.423													3	65					0	0	1	0	0	G	53960338	A	G	53960338	1	3	43	0	1	0	0	0	0	0	0	0	18186	319	11	3		3	ZNF761	19	53960338	RNA	SNP	A	TCGA-EJ-5505-01A-01D-1576-08	5305799	53960338	5168645	33	2285											
ADRA1D	146	broad.mit.edu	37	chr20	4202306	4202306	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcgcacgctgcctctgcgCgctgcgcgcccccggcgcgg	1	4	17	19	9	1	0	0	0	1	0	1	0	1	0	3	3	3	3	3	3	0	0			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr20:4202306C>T	ENST00000379453.4	-	2	1699	c.1583G>A	c.(1582-1584)cGc>cAc	p.R528H		NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN	adrenoceptor alpha 1D	528				KPPSAFREWRLLGPFRRPTTQLRAKVSSLSHKIRAGGAQRA EAACAQRSEVEAVSLGVPHEVAEGATCQAYELADYSNLRET DI -> SHPAPSASGGCWGRSGDPRPSCAPKSPACRTRSPP GARSAQRQRAPSAQRWRLCP (in Ref. 1).	cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation	integral to plasma membrane	alpha1-adrenergic receptor activity	p.R528H(1)		endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)	TGCCTCTGCGCGCTGCGCGCC	0.716													18	62					0	0	1	0	0	T	4202306	C	T	4202306	3	4	43	1	0	0	0	0	1	0	0	0	335	768	27	1	139	1	ADRA1D	20	4202306	Missense_Mutation	SNP	C	TCGA-EJ-5505-01A-01D-1576-08		4202306	58823214	34	2286											
RALGAPA2	57186	broad.mit.edu	37	chr20	20591999	20592002	+	Frame_Shift_Del	DEL	TTTA	TTTA	-																															agctctgggcaaacaagtccTttatttgtttatcctttggc																										TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr20:20591999_20592002delTTTA	ENST00000202677.6	-	14	1899_1902	c.1757_1760delTAAA	c.(1756-1761)agfs	p.IK586fs		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	586					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						AAACAAGTCCTTTATTTGTTTATC	0.382													8	773	---	---	---	---						-	20592002	TTTA	-	20591999	7	5	43	1	0	1	0	1	0	0	0	0	13066	1609	56	0	3965	0	RALGAPA2	20	20591999	Frame_Shift_Del	DEL	TTTA	TCGA-EJ-5505-01A-01D-1576-08	16389693	20591999	42433521	35	2287											
RTN4R	65078	broad.mit.edu	37	chr22	20230164	20230164	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaggcagtgcctgcagcgcGttgtcctgcaggtagaggta	7	9	15	10	2	1	1	1	0	0	1	2	1	2	1	2	3	4	6	2	3	2	3			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chr22:20230164G>T	ENST00000043402.7	-	2	930	c.492C>A	c.(490-492)aaC>aaA	p.N164K	RTN4R_ENST00000469601.1_5'UTR	NM_023004.5	NP_075380.1	Q9BZR6	RTN4R_HUMAN	reticulon 4 receptor	164					axonogenesis|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|cell surface|endoplasmic reticulum|plasma membrane	protein binding|receptor activity	p.N164K(1)		lung(1)|ovary(1)|prostate(1)	3	Colorectal(54;0.0993)					CCTGCAGCGCGTTGTCCTGCA	0.687													11	52					6.40141e-05	6.52451e-05	1	1	0	T	20230164	G	T	20230164	3	4	43	1	0	0	0	0	1	0	0	0	13782	1136	40	4	933	4	RTN4R	22	20230164	Missense_Mutation	SNP	G	TCGA-EJ-5505-01A-01D-1576-08		20230164	31074402	36	2288											
HCFC1	3054	broad.mit.edu	37	chrX	153224170	153224170	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgggtggcagcggccgcAgcggccagtgcggccatccc	4	6	16	15	4	1	0	0	0	1	0	2	0	2	0	4	5	3	2	4	5	0	1			TCGA-EJ-5505-01A-01D-1576-08	TCGA-EJ-5505-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81a818c2-0b58-46fa-a0a7-6f7cf020ba45	7756bd88-7802-41a3-abcb-aed3b0481164	g.chrX:153224170A>C	ENST00000310441.7	-	10	2619	c.1653T>G	c.(1651-1653)gcT>gcG	p.A551A	HCFC1_ENST00000354233.3_Silent_p.A482A|HCFC1_ENST00000369984.4_Silent_p.A551A	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	551					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.A551A(1)|p.A452A(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGCGGCCGCAGCGGCCAGTG	0.657													14	16					0	0	1	0	0	C	153224170	A	C	153224170	2	2	43	1	0	0	0	0	0	0	0	1	7032	175	7	5		5	HCFC1	23	153224170	Silent	SNP	A	TCGA-EJ-5505-01A-01D-1576-08		153224170	2046390	37	2289											
SGIP1	84251	broad.mit.edu	37	chr1	67137639	67137639	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcatcaggtgaagaagtggCaagacccaggcgttccacac	12	6	12	11	1	1	3	1	1	0	2	2	3	2	3	2	3	1	3	2	3	3	1			TCGA-EJ-5506-01A-01D-1576-08	TCGA-EJ-5506-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9	30a0b8d5-11a9-4367-9979-d2c6906f30cc	g.chr1:67137639C>A	ENST00000371037.4	+	11	598	c.521C>A	c.(520-522)gCa>gAa	p.A174E	SGIP1_ENST00000371035.3_Missense_Mutation_p.A131E|SGIP1_ENST00000371036.3_Missense_Mutation_p.A141E|SGIP1_ENST00000371039.1_Missense_Mutation_p.A142E|SGIP1_ENST00000237247.6_Missense_Mutation_p.A178E|SGIP1_ENST00000468286.1_3'UTR|AL139147.1_ENST00000502413.2_Intron	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	174					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding	p.A142E(1)|p.A174E(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						GAAGAAGTGGCAAGACCCAGG	0.378													3	77					1	1	1	1	0	A	67137639	C	A	67137639	3	1	44	1	0	0	0	0	1	0	0	0	14260	710	25	4	563	4	SGIP1	1	67137639	Missense_Mutation	SNP	C	TCGA-EJ-5506-01A-01D-1576-08		67137639	182112982	1	2290											
OBSCN	84033	broad.mit.edu	37	chr1	228528530	228528530	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgctgagaacaagctgcacGtgtccctcatggagaactac	11	7	11	12	2	1	2	1	1	0	2	2	4	2	2	1	1	5	3	1	1	4	1			TCGA-EJ-5506-01A-01D-1576-08	TCGA-EJ-5506-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9	30a0b8d5-11a9-4367-9979-d2c6906f30cc	g.chr1:228528530G>A	ENST00000570156.2	+	83	20583	c.20509G>A	c.(20509-20511)Gtg>Atg	p.V6837M	OBSCN_ENST00000284548.11_Missense_Mutation_p.V5880M|OBSCN_ENST00000366709.4_Missense_Mutation_p.V2999M|OBSCN_ENST00000366707.4_Missense_Mutation_p.V3514M|OBSCN_ENST00000422127.1_Missense_Mutation_p.V5880M	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5880					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.V6462M(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAAGCTGCACGTGTCCCTCAT	0.672													4	9					0	0	1	0	0	A	228528530	G	A	228528530	3	1	44	1	0	0	0	0	1	0	0	0	10860	1145	40	1	17920	1	OBSCN	1	228528530	Missense_Mutation	SNP	G	TCGA-EJ-5506-01A-01D-1576-08	161390891	228528530	20722091	2	2291											
PDCD1	5133	broad.mit.edu	37	chr2	242794939	242794939	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acacggaagcggcagtcctgGccgggctggctgcggtcctc	5	6	16	14	4	0	0	0	0	0	0	3	1	2	1	3	6	2	3	3	6	1	0			TCGA-EJ-5506-01A-01D-1576-08	TCGA-EJ-5506-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9	30a0b8d5-11a9-4367-9979-d2c6906f30cc	g.chr2:242794939G>T	ENST00000334409.5	-	2	339	c.270C>A	c.(268-270)ggC>ggA	p.G90G		NM_005018.2	NP_005009.2	Q15116	PDCD1_HUMAN	programmed cell death 1	90	Ig-like V-type.				apoptosis|humoral immune response|multicellular organismal development|T cell costimulation	integral to membrane	protein tyrosine phosphatase activity|signal transducer activity	p.G90G(1)		endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1)	8		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)		GGCAGTCCTGGCCGGGCTGGC	0.647													5	44					0.00116845	0.00127467	1	1	0	T	242794939	G	T	242794939	2	4	44	1	0	0	0	0	0	0	0	1	11662	1190	42	4		4	PDCD1	2	242794939	Silent	SNP	G	TCGA-EJ-5506-01A-01D-1576-08		242794939	404434	3	2292											
CCDC71	64925	broad.mit.edu	37	chr3	49201589	49201589	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttccctgccgtggagatgCgcgaccaggagtgcacagct	7	8	13	13	3	1	1	0	0	1	1	2	4	2	2	3	2	4	2	3	2	0	1			TCGA-EJ-5506-01A-01D-1576-08	TCGA-EJ-5506-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9	30a0b8d5-11a9-4367-9979-d2c6906f30cc	g.chr3:49201589C>T	ENST00000321895.6	-	2	159	c.53G>A	c.(52-54)cGc>cAc	p.R18H		NM_022903.3	NP_075054.3	Q8IV32	CCD71_HUMAN	coiled-coil domain containing 71	18								p.R18H(1)		endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CGTGGAGATGCGCGACCAGGA	0.572													5	97					0	0	1	0	0	T	49201589	C	T	49201589	3	4	44	1	0	0	0	0	1	0	0	0	2864	768	27	1	1354	1	CCDC71	3	49201589	Missense_Mutation	SNP	C	TCGA-EJ-5506-01A-01D-1576-08		49201589	148820841	4	2293											
PCDHA10	0	broad.mit.edu	37	chr5	140235694	140235694	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctctcgcttcttctcctcGcagcctgggaggtggggagc	3	11	14	13	2	3	0	0	0	3	0	6	2	3	2	2	4	3	3	2	4	0	2			TCGA-EJ-5506-01A-01D-1576-08	TCGA-EJ-5506-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9	30a0b8d5-11a9-4367-9979-d2c6906f30cc	g.chr5:140235694G>A	ENST00000307360.5	+	1	61	c.61G>A	c.(61-63)Gca>Aca	p.A21T	PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.A21T|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1												p.A21T(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTTCTCCTCGCAGCCTGGGA	0.597													7	58					0	0	1	0	0	A	140235694	G	A	140235694	3	1	44	1	0	0	0	0	1	0	0	0	11567	1087	38	1	63	1	PCDHA10	5	140235694	Missense_Mutation	SNP	G	TCGA-EJ-5506-01A-01D-1576-08		140235694	40679566	5	2294											
PCDHGA2	0	broad.mit.edu	37	chr5	140720213	140720213	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggaccagaacgacaacGcgcccgagatcctgtaccct	10	6	10	15	4	0	2	0	0	0	2	1	5	1	3	4	1	4	2	4	1	3	1			TCGA-EJ-5506-01A-01D-1576-08	TCGA-EJ-5506-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9	30a0b8d5-11a9-4367-9979-d2c6906f30cc	g.chr5:140720213G>A	ENST00000394576.2	+	1	1675	c.1675G>A	c.(1675-1677)Gcg>Acg	p.A559T	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1												p.A559T(2)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAACGACAACGCGCCCGAGAT	0.622													14	278					0	0	1	0	0	A	140720213	G	A	140720213	3	1	44	1	0	0	0	0	1	0	0	0	11601	1087	38	1	1677	1	PCDHGA2	5	140720213	Missense_Mutation	SNP	G	TCGA-EJ-5506-01A-01D-1576-08	484519	140720213	40195047	6	2295											
HIVEP2	3097	broad.mit.edu	37	chr6	143089660	143089660	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctgccaaataaaaaggacGcatcaggtttcatctgtaag	14	10	9	8	1	3	0	2	0	1	0	3	1	3	1	1	2	2	4	1	2	5	3			TCGA-EJ-5506-01A-01D-1576-08	TCGA-EJ-5506-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9	30a0b8d5-11a9-4367-9979-d2c6906f30cc	g.chr6:143089660G>A	ENST00000367603.2	-	6	5943	c.5201C>T	c.(5200-5202)gCg>gTg	p.A1734V	HIVEP2_ENST00000012134.2_Missense_Mutation_p.A1734V|HIVEP2_ENST00000367604.1_Missense_Mutation_p.A1734V	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1734					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A1734V(1)		NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TAAAAAGGACGCATCAGGTTT	0.398													11	216					0	0	1	0	0	A	143089660	G	A	143089660	3	1	44	1	0	0	0	0	1	0	0	0	7228	1087	38	1	2159	1	HIVEP2	6	143089660	Missense_Mutation	SNP	G	TCGA-EJ-5506-01A-01D-1576-08		143089660	28025407	7	2296											
ANKMY2	57037	broad.mit.edu	37	chr7	16676046	16676046	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagttgacacgaacattcttGctggataataatgttccagc	12	12	8	9	1	1	1	0	1	1	0	2	3	2	2	1	1	3	3	1	1	3	6			TCGA-EJ-5506-01A-01D-1576-08	TCGA-EJ-5506-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9	30a0b8d5-11a9-4367-9979-d2c6906f30cc	g.chr7:16676046G>C	ENST00000306999.2	-	2	345	c.102C>G	c.(100-102)agC>agG	p.S34R		NM_020319.2	NP_064715.1	Q8IV38	ANKY2_HUMAN	ankyrin repeat and MYND domain containing 2	34						cilium	zinc ion binding	p.S34R(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		GAACATTCTTGCTGGATAATA	0.289													3	65					0	0	1	0	0	C	16676046	G	C	16676046	3	2	44	1	0	0	0	0	1	0	0	0	631	1310	46	4	1259	4	ANKMY2	7	16676046	Missense_Mutation	SNP	G	TCGA-EJ-5506-01A-01D-1576-08		16676046	142462617	8	2297											
MFHAS1	9258	broad.mit.edu	37	chr8	8749969	8749969	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccagggccaccagctgcagCagctgccgggggaaggcagt	8	4	16	13	1	0	0	0	0	0	0	1	1	1	1	4	4	5	5	4	4	1	0			TCGA-EJ-5506-01A-01D-1576-08	TCGA-EJ-5506-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9	30a0b8d5-11a9-4367-9979-d2c6906f30cc	g.chr8:8749969C>A	ENST00000276282.6	-	1	1186	c.600G>T	c.(598-600)ctG>ctT	p.L200L		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	200								p.L200L(1)		endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		CCAGCTGCAGCAGCTGCCGGG	0.672													3	22					1	1	1	1	0	A	8749969	C	A	8749969	2	1	44	1	0	0	0	0	0	0	0	1	9571	697	25	4		4	MFHAS1	8	8749969	Silent	SNP	C	TCGA-EJ-5506-01A-01D-1576-08		8749969	137614053	9	2298											
C9orf131	138724	broad.mit.edu	37	chr9	35042438	35042438	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtggcagcttgggaggttgCgacagcttcatccctggtgc	5	10	16	10	1	1	0	1	0	0	0	2	2	2	1	1	5	4	4	1	5	0	3	rs144687989		TCGA-EJ-5506-01A-01D-1576-08	TCGA-EJ-5506-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9	30a0b8d5-11a9-4367-9979-d2c6906f30cc	g.chr9:35042438C>T	ENST00000312292.5	+	1	234	c.187C>T	c.(187-189)Cga>Tga	p.R63*	C9orf131_ENST00000354479.5_Intron|C9orf131_ENST00000421362.2_Nonsense_Mutation_p.R15*|FLJ00273_ENST00000595331.1_Silent_p.S129S	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	63								p.R63*(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			TGGGAGGTTGCGACAGCTTCA	0.532													3	92					0	0	1	0	0	T	35042438	C	T	35042438	4	4	44	1	0	0	0	0	0	1	0	0	2475	760	27	1	205	1	C9orf131	9	35042438	Nonsense_Mutation	SNP	C	TCGA-EJ-5506-01A-01D-1576-08		35042438	106170993	10	2299											
DHTKD1	55526	broad.mit.edu	37	chr10	12143062	12143062	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttttaatgttcgtctaagtgGccaagatgttggtcgtggaa	9	15	12	5	2	1	1	0	0	1	1	3	2	1	2	1	3	0	2	1	3	4	5			TCGA-EJ-5506-01A-01D-1576-08	TCGA-EJ-5506-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9	30a0b8d5-11a9-4367-9979-d2c6906f30cc	g.chr10:12143062G>A	ENST00000263035.4	+	10	1840	c.1778G>A	c.(1777-1779)gGc>gAc	p.G593D		NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	593					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.G593D(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			CGTCTAAGTGGCCAAGATGTT	0.408													16	349					0	0	1	0	0	A	12143062	G	A	12143062	3	1	44	1	0	0	0	0	1	0	0	0	4528	1203	42	2	1816	2	DHTKD1	10	12143062	Missense_Mutation	SNP	G	TCGA-EJ-5506-01A-01D-1576-08		12143062	123391685	11	2300											
TTC17	55761	broad.mit.edu	37	chr11	43513626	43513626	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgccaagctctggaatgaCgccgtcatagtagccaccat	12	8	9	12	2	2	1	1	1	1	0	2	2	2	2	4	1	3	2	4	1	5	2			TCGA-EJ-5506-01A-01D-1576-08	TCGA-EJ-5506-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9	30a0b8d5-11a9-4367-9979-d2c6906f30cc	g.chr11:43513626C>T	ENST00000039989.4	+	23	3221	c.3207C>T	c.(3205-3207)gaC>gaT	p.D1069D		NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	1069							binding	p.D1069D(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						TCTGGAATGACGCCGTCATAG	0.517													14	393					0	0	1	0	0	T	43513626	C	T	43513626	2	4	44	1	0	0	0	0	0	0	0	1	16746	535	19	1		1	TTC17	11	43513626	Silent	SNP	C	TCGA-EJ-5506-01A-01D-1576-08		43513626	91492890	12	2301											
HCFC2	29915	broad.mit.edu	37	chr12	104487295	104487295	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccatctttggcatcaaatgcTtctaatcataatagtcatgt	12	15	5	9	0	5	0	3	0	2	0	5	0	5	0	1	1	1	2	1	1	4	5	rs138874026		TCGA-EJ-5506-01A-01D-1576-08	TCGA-EJ-5506-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9	30a0b8d5-11a9-4367-9979-d2c6906f30cc	g.chr12:104487295T>G	ENST00000229330.4	+	10	1520	c.1416T>G	c.(1414-1416)gcT>gcG	p.A472A	HCFC2_ENST00000550335.1_3'UTR	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	472					regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity	p.A472A(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						CATCAAATGCTTCTAATCATA	0.333													8	197					0	0	1	0	0	G	104487295	T	G	104487295	2	3	44	1	0	0	0	0	0	0	0	1	7034	1596	56	5		5	HCFC2	12	104487295	Silent	SNP	T	TCGA-EJ-5506-01A-01D-1576-08		104487295	29364600	13	2302											
ITGAM	3684	broad.mit.edu	37	chr16	31332891	31332891	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggtgaaaggcaaggaagccGgagaggtcagagtctgcctc	11	6	16	8	1	2	3	1	1	1	2	3	5	2	4	2	5	2	1	2	5	3	0			TCGA-EJ-5506-01A-01D-1576-08	TCGA-EJ-5506-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9	30a0b8d5-11a9-4367-9979-d2c6906f30cc	g.chr16:31332891G>A	ENST00000544665.3	+	16	2019	c.1948G>A	c.(1948-1950)Gga>Aga	p.G650R	ITGAM_ENST00000287497.8_Missense_Mutation_p.G649R	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	649					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	p.G649R(2)		endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CAAGGAAGCCGGAGAGGTCAG	0.517													16	304					0	0	1	0	0	A	31332891	G	A	31332891	3	1	44	1	0	0	0	0	1	0	0	0	7931	1117	39	1	2010	1	ITGAM	16	31332891	Missense_Mutation	SNP	G	TCGA-EJ-5506-01A-01D-1576-08		31332891	59021862	14	2303											
DHX38	9785	broad.mit.edu	37	chr16	72130068	72130068	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcctgtgatgggggacacCagtgaggatgcctcgatcca	9	8	14	10	1	0	2	0	2	0	0	3	6	2	4	4	3	1	0	4	3	0	0			TCGA-EJ-5506-01A-01D-1576-08	TCGA-EJ-5506-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9	30a0b8d5-11a9-4367-9979-d2c6906f30cc	g.chr16:72130068C>T	ENST00000268482.3	+	2	521	c.12C>T	c.(10-12)acC>acT	p.T4T	DHX38_ENST00000536867.1_Silent_p.T4T	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	4					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.T4T(1)		endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				TGGGGGACACCAGTGAGGATG	0.498													5	149					0	0	1	0	0	T	72130068	C	T	72130068	2	4	44	1	0	0	0	0	0	0	0	1	4539	581	21	2		2	DHX38	16	72130068	Silent	SNP	C	TCGA-EJ-5506-01A-01D-1576-08	40797177	72130068	18224685	15	2304											
SGSM2	9905	broad.mit.edu	37	chr17	2267466	2267466	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggactctgggggactccgaGctggaaaagaggtgggggct	8	6	20	7	1	1	1	0	0	1	1	2	5	2	4	1	7	1	2	1	7	2	0			TCGA-EJ-5506-01A-01D-1576-08	TCGA-EJ-5506-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9	30a0b8d5-11a9-4367-9979-d2c6906f30cc	g.chr17:2267466G>T	ENST00000268989.3	+	8	1098	c.921G>T	c.(919-921)gaG>gaT	p.E307D	SGSM2_ENST00000574563.1_Missense_Mutation_p.E307D|SGSM2_ENST00000426855.2_Missense_Mutation_p.E307D	NM_014853.2	NP_055668.2	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	307						intracellular	Rab GTPase activator activity	p.E307D(1)		biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		GGGACTCCGAGCTGGAAAAGA	0.617													3	83					1	1	1	1	0	T	2267466	G	T	2267466	3	4	44	1	0	0	0	0	1	0	0	0	14277	962	34	4	951	4	SGSM2	17	2267466	Missense_Mutation	SNP	G	TCGA-EJ-5506-01A-01D-1576-08		2267466	78927744	16	2305											
STAT3	6774	broad.mit.edu	37	chr17	40476777	40476777	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctcgatgctcagtcctcGcttggtggtggaggagaact	6	11	14	10	2	1	1	1	0	0	1	4	4	2	2	1	4	3	3	1	4	1	1			TCGA-EJ-5506-01A-01D-1576-08	TCGA-EJ-5506-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9	30a0b8d5-11a9-4367-9979-d2c6906f30cc	g.chr17:40476777G>A	ENST00000264657.5	-	17	1864	c.1552C>T	c.(1552-1554)Cga>Tga	p.R518*	STAT3_ENST00000585517.1_Nonsense_Mutation_p.R518*|STAT3_ENST00000588969.1_Nonsense_Mutation_p.R518*|STAT3_ENST00000404395.3_Nonsense_Mutation_p.R518*|STAT3_ENST00000389272.3_Nonsense_Mutation_p.R420*	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	518					cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	p.R518*(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		CTCAGTCCTCGCTTGGTGGTG	0.547									Hyperimmunoglobulin E Recurrent Infection Syndrome				5	114					0	0	1	0	0	A	40476777	G	A	40476777	4	1	44	1	0	0	0	0	0	1	0	0	15322	1095	38	1	792	1	STAT3	17	40476777	Nonsense_Mutation	SNP	G	TCGA-EJ-5506-01A-01D-1576-08	38209311	40476777	40718433	17	2306											
DNAH17	8632	broad.mit.edu	37	chr17	76471408	76471408	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagggtgatctgaaacacGtcaagcccgctgatgtacgc	10	9	12	10	3	2	4	1	4	1	0	2	4	2	4	1	1	3	2	1	1	3	2			TCGA-EJ-5506-01A-01D-1576-08	TCGA-EJ-5506-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f5e6063-d19e-4f56-b3f9-5c2260d3bfc9	30a0b8d5-11a9-4367-9979-d2c6906f30cc	g.chr17:76471408G>A	ENST00000389840.5	-	54	8545	c.8421C>T	c.(8419-8421)gaC>gaT	p.D2807D	DNAH17_ENST00000585328.1_Silent_p.D2816D|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17									p.D2816D(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCTGAAACACGTCAAGCCCGC	0.607													5	168					0	0	1	0	0	A	76471408	G	A	76471408	2	1	44	1	0	0	0	0	0	0	0	1	4629	1136	40	1		1	DNAH17	17	76471408	Silent	SNP	G	TCGA-EJ-5506-01A-01D-1576-08	35994631	76471408	4723802	18	2307											
ANKRD13C	81573	broad.mit.edu	37	chr1	70801756	70801756	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaacctttatttcctaacaTcacagcaaggtgtaaaggag	14	11	7	9	0	1	0	1	0	0	0	2	1	2	1	2	2	3	2	2	2	6	6			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr1:70801756T>C	ENST00000370944.4	-	2	770	c.457A>G	c.(457-459)Atg>Gtg	p.M153V	ANKRD13C_ENST00000262346.6_Missense_Mutation_p.M153V	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	153					protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding	p.M153V(1)		endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						TTTCCTAACATCACAGCAAGG	0.219													4	18					0	0	0.150653	0	0	C	70801756	T	C	70801756	3	2	45	1	0	0	0	0	1	0	0	0	639	1435	50	3	1216	3	ANKRD13C	1	70801756	Missense_Mutation	SNP	T	TCGA-EJ-5507-01A-01D-1576-08		70801756	178448865	1	2308											
SV2A	0	broad.mit.edu	37	chr1	149884960	149884960	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgttgggccagttcttctcGttctttccgtcgttgtgcct	1	18	10	12	3	3	0	0	0	3	0	6	0	4	0	3	1	1	4	3	1	0	6			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr1:149884960G>A	ENST00000369146.3	-	2	923	c.433C>T	c.(433-435)Cga>Tga	p.R145*	SV2A_ENST00000369145.1_Nonsense_Mutation_p.R145*	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	145					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	p.R145*(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	AGTTCTTCTCGTTCTTTCCGT	0.637													35	62					0	0	0.819951	0	0	A	149884960	G	A	149884960	4	1	45	1	0	0	0	0	0	1	0	0	15473	1153	40	1	1843	1	SV2A	1	149884960	Nonsense_Mutation	SNP	G	TCGA-EJ-5507-01A-01D-1576-08	79083204	149884960	99365661	2	2309											
PBX1	5087	broad.mit.edu	37	chr1	164789324	164789324	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccaggttcttccagttcttTtaacatgtcaaactctggag	9	15	7	10	0	4	0	1	0	3	0	6	1	6	1	2	2	2	2	2	2	2	5			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr1:164789324T>G	ENST00000420696.2	+	7	1201	c.1013T>G	c.(1012-1014)tTt>tGt	p.F338C	PBX1_ENST00000559240.1_Intron|PBX1_ENST00000560641.1_Missense_Mutation_p.F233C|PBX1_ENST00000540246.1_Missense_Mutation_p.F233C|PBX1_ENST00000540236.1_Missense_Mutation_p.F338C|PBX1_ENST00000401534.1_Intron|PBX1_ENST00000367897.1_Intron	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	338					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding	p.F338C(1)	EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						TCCAGTTCTTTTAACATGTCA	0.473			T	"TCF3, EWSR1"	"pre B-ALL, myoepithelioma"								20	131					0	0	0.624587	0	0	G	164789324	T	G	164789324	3	3	45	1	0	0	0	0	1	0	0	0	11539	1841	64	5	1039	5	PBX1	1	164789324	Missense_Mutation	SNP	T	TCGA-EJ-5507-01A-01D-1576-08	14904364	164789324	84461297	3	2310											
FER1L5	90342	broad.mit.edu	37	chr2	97369281	97369281	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcaaggtgaagatgagcctgGagattctgtcagagaaggaa	14	7	15	5	0	2	5	1	2	1	3	2	8	2	6	1	3	1	1	1	3	4	1			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr2:97369281G>A	ENST00000457909.1	+	0	5216							A0AVI2	FR1L5_HUMAN	fer-1-like 5 (C. elegans)							integral to membrane		p.E1941K(1)		NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						GATGAGCCTGGAGATTCTGTC	0.577													7	57					0	0	0.248553	0	0	A	97369281	G	A	97369281	1	1	45	0	1	0	0	0	0	0	0	0	5847	1175	41	2		2	FER1L5	2	97369281	RNA	SNP	G	TCGA-EJ-5507-01A-01D-1576-08		97369281	145830092	4	2311											
SCN7A	6332	broad.mit.edu	37	chr2	167304172	167304172	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacatccaatgatgtgtctGtggaaattggtgaccttttc	10	14	9	8	0	1	2	0	2	1	0	3	3	2	3	2	2	0	0	2	2	2	3			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr2:167304172G>T	ENST00000409855.1	-	11	1463	c.1337C>A	c.(1336-1338)aCa>aAa	p.T446K		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	446					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.T446K(3)		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						TGATGTGTCTGTGGAAATTGG	0.378													45	149					9.40368e-32	1.11669e-31	0.870114	1	0	T	167304172	G	T	167304172	3	4	45	1	0	0	0	0	1	0	0	0	13977	1377	48	4	3771	4	SCN7A	2	167304172	Missense_Mutation	SNP	G	TCGA-EJ-5507-01A-01D-1576-08	69934891	167304172	75895201	5	2312											
VILL	50853	broad.mit.edu	37	chr3	38048106	38048106	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcagcagcaccagcgccaCgatcaacgggggcctgcgcc	8	3	13	17	5	2	0	2	0	0	0	2	1	2	0	4	2	5	2	4	2	1	0			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr3:38048106C>T	ENST00000283713.6	+	19	2638	c.2372C>T	c.(2371-2373)aCg>aTg	p.T791M	VILL_ENST00000465644.1_Missense_Mutation_p.T509M|VILL_ENST00000383759.2_Missense_Mutation_p.T791M			O15195	VILL_HUMAN	villin-like	791	HP.				actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton	p.T791M(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		ACCAGCGCCACGATCAACGGG	0.667													25	52					0	0	0.769981	0	0	T	38048106	C	T	38048106	3	4	45	1	0	0	0	0	1	0	0	0	17225	536	19	1	2442	1	VILL	3	38048106	Missense_Mutation	SNP	C	TCGA-EJ-5507-01A-01D-1576-08		38048106	159974324	6	2313											
NBEAL2	23218	broad.mit.edu	37	chr3	47036899	47036899	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggaaaggcccgacacgcAggtgctgtcatccgcacatt	9	7	12	13	3	1	0	1	0	0	0	2	2	2	1	2	3	1	4	2	3	1	1			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr3:47036899A>G	ENST00000450053.3	+	13	1853	c.1674A>G	c.(1672-1674)gcA>gcG	p.A558A	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Silent_p.A558A	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	558							binding	p.A119A(1)|p.A558A(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CCCGACACGCAGGTGCTGTCA	0.632													17	35					0	0	0.592651	0	0	G	47036899	A	G	47036899	2	3	45	1	0	0	0	0	0	0	0	1	10237	175	7	3		3	NBEAL2	3	47036899	Silent	SNP	A	TCGA-EJ-5507-01A-01D-1576-08	8988793	47036899	150985531	7	2314											
DOCK3	1795	broad.mit.edu	37	chr3	51347719	51347719	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgatgaagatgagtgtcttCcctcgggactggatggtaat	9	12	13	7	1	1	4	0	3	1	1	3	6	2	6	1	3	0	1	1	3	2	2			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr3:51347719C>T	ENST00000266037.9	+	28	3002	c.2979C>T	c.(2977-2979)ttC>ttT	p.F993F		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	993						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	p.F993F(2)|p.F982F(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TGAGTGTCTTCCCTCGGGACT	0.463													8	12					0	0	0.307466	0	0	T	51347719	C	T	51347719	2	4	45	1	0	0	0	0	0	0	0	1	4715	854	30	2		2	DOCK3	3	51347719	Silent	SNP	C	TCGA-EJ-5507-01A-01D-1576-08	4310820	51347719	146674711	8	2315											
MME	4311	broad.mit.edu	37	chr3	154860109	154860109	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctacaaggagtccagaaatgCtttccgcaaggtgaagaaaa	16	7	10	8	1	0	3	0	1	0	2	2	4	2	4	2	2	2	2	2	2	7	2			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr3:154860109C>A	ENST00000460393.1	+	12	1298	c.1178C>A	c.(1177-1179)gCt>gAt	p.A393D	MME_ENST00000493237.1_Missense_Mutation_p.A393D|MME_ENST00000462745.1_Missense_Mutation_p.A393D|MME_ENST00000360490.2_Missense_Mutation_p.A393D|MME_ENST00000492661.1_Missense_Mutation_p.A393D	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	393					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.A393D(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	TCCAGAAATGCTTTCCGCAAG	0.378													10	166					0.000673444	0.000752673	0.361761	1	0	A	154860109	C	A	154860109	3	1	45	1	0	0	0	0	1	0	0	0	9693	797	28	4	1220	4	MME	3	154860109	Missense_Mutation	SNP	C	TCGA-EJ-5507-01A-01D-1576-08	103512390	154860109	43162321	9	2316											
LPHN3	23284	broad.mit.edu	37	chr4	62813870	62813870	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attttggagctactccaagcGtacaatgacaggttattggt	11	13	10	7	1	0	1	0	1	0	0	1	2	1	2	1	3	4	3	1	3	5	6			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr4:62813870G>A	ENST00000512091.1	+	16	3224	c.2477G>A	c.(2476-2478)cGt>cAt	p.R826H	LPHN3_ENST00000511324.1_Missense_Mutation_p.R894H|LPHN3_ENST00000508693.1_Missense_Mutation_p.R894H|LPHN3_ENST00000506720.1_Missense_Mutation_p.R894H|LPHN3_ENST00000507164.1_Missense_Mutation_p.R894H|LPHN3_ENST00000506700.1_Missense_Mutation_p.R826H|LPHN3_ENST00000504896.1_Missense_Mutation_p.R826H|LPHN3_ENST00000508946.1_Missense_Mutation_p.R826H|LPHN3_ENST00000506746.1_Missense_Mutation_p.R894H|LPHN3_ENST00000545650.1_Missense_Mutation_p.R826H|LPHN3_ENST00000514157.1_Missense_Mutation_p.R826H|LPHN3_ENST00000507625.1_Missense_Mutation_p.R894H|LPHN3_ENST00000514996.1_Missense_Mutation_p.R826H|LPHN3_ENST00000509896.1_Missense_Mutation_p.R894H|LPHN3_ENST00000514591.1_Missense_Mutation_p.R826H			Q9HAR2	LPHN3_HUMAN	latrophilin 3	813	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	p.R826H(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TACTCCAAGCGTACAATGACA	0.383													27	51					0	0	0.717897	0	0	A	62813870	G	A	62813870	3	1	45	1	0	0	0	0	1	0	0	0	8962	1145	40	1	2531	1	LPHN3	4	62813870	Missense_Mutation	SNP	G	TCGA-EJ-5507-01A-01D-1576-08		62813870	128340406	10	2317											
MTNR1A	4543	broad.mit.edu	37	chr4	187455565	187455565	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgaatatggagccgatgaCgctcaggcccatcaggaacc	11	7	12	11	2	2	2	2	2	0	0	2	5	2	4	3	3	2	2	3	3	3	2			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr4:187455565C>T	ENST00000307161.5	-	2	532	c.331G>A	c.(331-333)Gtc>Atc	p.V111I	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	111					circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity	p.V111I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	GAGCCGATGACGCTCAGGCCC	0.517													15	92					0	0	0.479597	0	0	T	187455565	C	T	187455565	3	4	45	1	0	0	0	0	1	0	0	0	9999	536	19	1	725	1	MTNR1A	4	187455565	Missense_Mutation	SNP	C	TCGA-EJ-5507-01A-01D-1576-08	124641695	187455565	3698711	11	2318											
TRIP13	9319	broad.mit.edu	37	chr5	908175	908175	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaagacgccctggtgttcGtgctgattgatgaggtaggc	9	11	14	7	2	0	4	0	3	0	1	1	4	0	4	1	3	1	3	1	3	3	4			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr5:908175G>A	ENST00000166345.3	+	8	1101	c.745G>A	c.(745-747)Gtg>Atg	p.V249M		NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	thyroid hormone receptor interactor 13	249					double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter		ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity	p.V249M(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			CCTGGTGTTCGTGCTGATTGA	0.453													58	193					0	0	0.870114	0	0	A	908175	G	A	908175	3	1	45	1	0	0	0	0	1	0	0	0	16618	1145	40	1	775	1	TRIP13	5	908175	Missense_Mutation	SNP	G	TCGA-EJ-5507-01A-01D-1576-08		908175	180007085	12	2319											
SKIV2L	6499	broad.mit.edu	37	chr6	31930258	31930258	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggccctgagcaaccagaaGttccgggacttccgaaacac	13	5	10	13	2	0	2	0	1	0	1	2	4	2	3	4	2	3	2	4	2	4	2			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr6:31930258G>C	ENST00000375394.2	+	11	1220	c.1107G>C	c.(1105-1107)aaG>aaC	p.K369N	SKIV2L_ENST00000544581.1_Missense_Mutation_p.K176N	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	369	Helicase ATP-binding.					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	p.K369N(2)		breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						GCAACCAGAAGTTCCGGGACT	0.587													48	93					0	0	0.870114	0	0	C	31930258	G	C	31930258	3	2	45	1	0	0	0	0	1	0	0	0	14414	1020	36	4	1149	4	SKIV2L	6	31930258	Missense_Mutation	SNP	G	TCGA-EJ-5507-01A-01D-1576-08		31930258	139184809	13	2320											
PKHD1	5314	broad.mit.edu	37	chr6	51524058	51524058	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctagtgcaagtcacagtaggGcaattgcgctttctttttgc	8	14	10	9	1	2	0	1	0	1	0	2	0	2	0	0	1	3	4	0	1	4	6			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr6:51524058G>A	ENST00000371117.3	-	61	11141	c.10866C>T	c.(10864-10866)tgC>tgT	p.C3622C		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3622			C -> Y (in ARPKD).		cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.C3622C(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TCACAGTAGGGCAATTGCGCT	0.458													62	151					0	0	0.870114	0	0	A	51524058	G	A	51524058	2	1	45	1	0	0	0	0	0	0	0	1	12019	1195	42	2		2	PKHD1	6	51524058	Silent	SNP	G	TCGA-EJ-5507-01A-01D-1576-08	19593800	51524058	119591009	14	2321											
REV3L	5980	broad.mit.edu	37	chr6	111726773	111726773	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtaggaggtagggaatatgCgcttcatgaggctggtaaaa	12	10	15	4	1	1	1	1	1	0	0	1	3	1	3	0	5	1	5	0	5	6	5			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr6:111726773C>T	ENST00000435970.1	-	6	1047	c.231G>A	c.(229-231)gcG>gcA	p.A77A	REV3L_ENST00000368802.3_Silent_p.A155A|REV3L_ENST00000358835.3_Silent_p.A155A|REV3L_ENST00000368805.1_Silent_p.A155A			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	155					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	p.A77A(1)		NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AGGGAATATGCGCTTCATGAG	0.338								DNA polymerases (catalytic subunits)					6	343					0	0	0.217242	0	0	T	111726773	C	T	111726773	2	4	45	1	0	0	0	0	0	0	0	1	13292	755	27	1		1	REV3L	6	111726773	Silent	SNP	C	TCGA-EJ-5507-01A-01D-1576-08	60202715	111726773	59388294	15	2322											
SP4	6671	broad.mit.edu	37	chr7	21469876	21469876	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccattgaagaatctcaaacaCctgctgctactgagtctgaa	13	10	7	11	0	2	4	1	3	2	1	3	4	2	4	2	0	4	2	2	0	5	2			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr7:21469876C>G	ENST00000222584.3	+	3	1311	c.1093C>G	c.(1093-1095)Cct>Gct	p.P365A		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	365					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	p.P365A(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						ATCTCAAACACCTGCTGCTAC	0.468													8	144					0	0	0.27861	0	0	G	21469876	C	G	21469876	3	3	45	1	0	0	0	0	1	0	0	0	15020	507	18	4	1103	4	SP4	7	21469876	Missense_Mutation	SNP	C	TCGA-EJ-5507-01A-01D-1576-08		21469876	137668787	16	2323											
GARS	2617	broad.mit.edu	37	chr7	30661990	30661992	+	In_Frame_Del	DEL	AAG	AAG	-																															gagcaattggtaaggcatatAagaaggatgcaaaactggtg																										TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr7:30661990_30661992delAAG	ENST00000389266.3	+	12	1766_1768	c.1525_1527delAAG	c.(1525-1527)del	p.K510del		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	510					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	TAAGGCATATAAGAAGGATGCAA	0.404													8	322	---	---	---	---						-	30661992	AAG	-	30661990	7	5	45	1	0	1	0	1	0	0	0	0	6282	363	13	0	1571	0	GARS	7	30661990	In_Frame_Del	DEL	AAG	TCGA-EJ-5507-01A-01D-1576-08	9192114	30661990	128476673	17	2324											
GLI3	2737	broad.mit.edu	37	chr7	42262830	42262830	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttttcttttcagtggtcgtgGagctgtgggactgggcctcc	3	15	14	9	1	2	0	1	0	1	0	4	2	3	2	2	4	1	1	2	4	0	4			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr7:42262830G>C	ENST00000395925.3	-	2	107	c.23C>G	c.(22-24)tCc>tGc	p.S8C	GLI3_ENST00000437480.1_Missense_Mutation_p.S8C	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	8					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S8C(2)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						AGTGGTCGTGGAGCTGTGGGA	0.453									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				11	161					0	0	0.361761	0	0	C	42262830	G	C	42262830	3	2	45	1	0	0	0	0	1	0	0	0	6481	1174	41	4	4775	4	GLI3	7	42262830	Missense_Mutation	SNP	G	TCGA-EJ-5507-01A-01D-1576-08	11600840	42262830	116875833	18	2325											
PIK3CG	5294	broad.mit.edu	37	chr7	106509965	106509965	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactggagagcttggaggaCgatgatgttctgcattacct	11	11	12	7	1	1	2	0	1	1	1	1	6	1	4	1	3	4	3	1	3	2	3			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr7:106509965C>T	ENST00000359195.3	+	2	2269	c.1959C>T	c.(1957-1959)gaC>gaT	p.D653D	PIK3CG_ENST00000496166.1_Silent_p.D653D|PIK3CG_ENST00000440650.2_Silent_p.D653D	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	653					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	p.D653D(2)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						gcttggaggacgatgatgttc	0.443													22	58					0	0	0.592651	0	0	T	106509965	C	T	106509965	2	4	45	1	0	0	0	0	0	0	0	1	11964	535	19	1		1	PIK3CG	7	106509965	Silent	SNP	C	TCGA-EJ-5507-01A-01D-1576-08	64247135	106509965	52628698	19	2326											
PTPRD	5789	broad.mit.edu	37	chr9	8449746	8449746	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtgtttgaaagttaaggcGcctcagttctacagggtctg	8	12	13	8	2	3	1	1	1	2	0	3	1	3	1	1	3	1	3	1	3	3	4			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr9:8449746G>A	ENST00000381196.4	-	31	4510	c.3967C>T	c.(3967-3969)Cgc>Tgc	p.R1323C	PTPRD_ENST00000356435.5_Missense_Mutation_p.R1323C|PTPRD_ENST00000397606.3_Missense_Mutation_p.R902C|PTPRD_ENST00000397611.3_Missense_Mutation_p.R913C|PTPRD_ENST00000397617.3_Missense_Mutation_p.R902C|PTPRD_ENST00000355233.5_Missense_Mutation_p.R917C|PTPRD_ENST00000360074.4_Missense_Mutation_p.R1310C|PTPRD_ENST00000540109.1_Missense_Mutation_p.R1323C|PTPRD_ENST00000537002.1_Missense_Mutation_p.R913C|PTPRD_ENST00000358503.5_Missense_Mutation_p.R1301C|PTPRD_ENST00000486161.1_Missense_Mutation_p.R916C	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1323					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.R794C(1)|p.R1323C(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AAGTTAAGGCGCCTCAGTTCT	0.463										TSP Lung(15;0.13)			7	291					0	0	0.248553	0	0	A	8449746	G	A	8449746	3	1	45	1	0	0	0	0	1	0	0	0	12851	1087	38	1	1869	1	PTPRD	9	8449746	Missense_Mutation	SNP	G	TCGA-EJ-5507-01A-01D-1576-08		8449746	132763685	20	2327											
SPAG8	26206	broad.mit.edu	37	chr9	35811495	35811495	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagagccatgaccaggaccaGagccaggaccagagccagga	14	1	13	13	0	0	4	0	1	0	3	0	7	0	7	6	3	3	0	6	3	0	0	rs59748329		TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr9:35811495G>C	ENST00000340291.2	-	2	672	c.548C>G	c.(547-549)tCt>tGt	p.S183C	SPAG8_ENST00000484764.1_Missense_Mutation_p.S181C|AL133410.1_ENST00000582432.1_RNA|SPAG8_ENST00000396638.2_Missense_Mutation_p.S183C	NM_172312.1	NP_758516.1	Q99932	SPAG8_HUMAN	sperm associated antigen 8	183	Gly-rich.					acrosomal vesicle|membrane		p.S183C(2)|p.S183_G186delSGPG(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			accaggaccagagccaggacc	0.647													21	16					0	0	0.608945	0	0	C	35811495	G	C	35811495	3	2	45	1	0	0	0	0	1	0	0	0	15040	942	33	4	1184	4	SPAG8	9	35811495	Missense_Mutation	SNP	G	TCGA-EJ-5507-01A-01D-1576-08	27361749	35811495	105401936	21	2328											
TRPM6	140803	broad.mit.edu	37	chr9	77448965	77448965	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgacaccccaaggagggatTccaactgtccagatttttct	11	11	8	11	0	1	2	0	1	1	1	3	4	3	4	4	2	1	0	4	2	2	3			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr9:77448965T>C	ENST00000451710.3	-	6	855	c.618A>G	c.(616-618)ggA>ggG	p.G206G	TRPM6_ENST00000359047.2_Silent_p.G206G|TRPM6_ENST00000449912.2_Silent_p.G201G|TRPM6_ENST00000361255.3_Silent_p.G201G|TRPM6_ENST00000376871.3_Silent_p.G206G|TRPM6_ENST00000376872.3_Silent_p.G206G|TRPM6_ENST00000483186.1_5'UTR|TRPM6_ENST00000360774.1_Silent_p.G206G|TRPM6_ENST00000376864.4_Silent_p.G206G			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	206					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	p.G206G(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						AAGGAGGGATTCCAACTGTCC	0.418													60	122					0	0	0.870114	0	0	C	77448965	T	C	77448965	2	2	45	1	0	0	0	0	0	0	0	1	16651	1770	62	3		3	TRPM6	9	77448965	Silent	SNP	T	TCGA-EJ-5507-01A-01D-1576-08	41637470	77448965	63764466	22	2329											
SYK	6850	broad.mit.edu	37	chr9	93606305	93606305	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgggctttatttgctgcGccagagccgcaactacctgg	7	11	12	11	2	0	2	0	1	0	1	0	2	0	2	3	2	5	3	3	2	3	4			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr9:93606305G>A	ENST00000375754.4	+	2	273	c.125G>A	c.(124-126)cGc>cAc	p.R42H	SYK_ENST00000375747.1_Missense_Mutation_p.R42H|SYK_ENST00000375751.4_Missense_Mutation_p.R42H|SYK_ENST00000375746.1_Missense_Mutation_p.R42H|SYK_ENST00000476708.1_3'UTR	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	42	SH2 1.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity	p.R42H(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						TATTTGCTGCGCCAGAGCCGC	0.617			T	"ETV6, ITK"	"MDS, peripheral T-cell lymphoma"								6	13					0	0	0.217242	0	0	A	93606305	G	A	93606305	3	1	45	1	0	0	0	0	1	0	0	0	15495	1087	38	1	127	1	SYK	9	93606305	Missense_Mutation	SNP	G	TCGA-EJ-5507-01A-01D-1576-08	16157340	93606305	47607126	23	2330											
SOHLH1	402381	broad.mit.edu	37	chr9	138586195	138586195	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagctcatatcaggtgcttaCgcggggggaccagccctgaa	9	7	13	12	2	2	1	2	1	0	0	2	2	2	2	2	4	4	2	2	4	3	2			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr9:138586195C>T	ENST00000298466.5	-	7	1044	c.984G>A	c.(982-984)gcG>gcA	p.A328A	SOHLH1_ENST00000425225.1_Intron	NM_001012415.2	NP_001012415.2	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 1	328					cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	p.A328A(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		CAGGTGCTTACGCGGGGGGAC	0.647													11	46					0	0	0.361761	0	0	T	138586195	C	T	138586195	2	4	45	1	0	0	0	0	0	0	0	1	14977	523	19	1		1	SOHLH1	9	138586195	Silent	SNP	C	TCGA-EJ-5507-01A-01D-1576-08	44979890	138586195	2627236	24	2331											
CARD9	64170	broad.mit.edu	37	chr9	139262118	139262118	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtctccagctgctgccgccTgagcctgccctccacggcca	4	7	10	20	3	1	1	0	1	1	0	3	1	2	1	7	1	5	2	7	1	0	0			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr9:139262118T>C	ENST00000371732.5	-	8	1405	c.1240A>G	c.(1240-1242)Agg>Ggg	p.R414G	CARD9_ENST00000371734.3_Missense_Mutation_p.R414G	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	414					positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity	p.R414G(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		TGCTGCCGCCTGAGCCTGCCC	0.721													2	12					0	0	0.115264	0	0	C	139262118	T	C	139262118	3	2	45	1	0	0	0	0	1	0	0	0	2670	1579	55	3	447	3	CARD9	9	139262118	Missense_Mutation	SNP	T	TCGA-EJ-5507-01A-01D-1576-08	675923	139262118	1951313	25	2332											
OR4A16	81327	broad.mit.edu	37	chr11	55110960	55110960	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgctatttccttgtcagcttGcatgggtcagctcttcatag	6	15	9	11	1	4	0	3	0	1	0	5	0	5	0	1	1	3	4	1	1	2	6			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr11:55110960G>T	ENST00000314721.2	+	1	334	c.284G>T	c.(283-285)tGc>tTc	p.C95F		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C95F(1)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TTGTCAGCTTGCATGGGTCAG	0.453													10	551					2.17888e-05	2.48392e-05	0.335167	1	0	T	55110960	G	T	55110960	3	4	45	1	0	0	0	0	1	0	0	0	11089	1319	46	4	286	4	OR4A16	11	55110960	Missense_Mutation	SNP	G	TCGA-EJ-5507-01A-01D-1576-08		55110960	79895556	26	2333											
OR5W2	390148	broad.mit.edu	37	chr11	55681278	55681278	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaataggaagaacttggccGgaaatacataaagagcagag	19	5	12	5	1	0	4	0	0	0	4	0	6	0	6	1	3	3	1	1	3	8	4			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr11:55681278G>A	ENST00000344514.1	-	1	780	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R261W(2)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GAACTTGGCCGGAAATACATA	0.443													50	93					0	0	0.870114	0	0	A	55681278	G	A	55681278	3	1	45	1	0	0	0	0	1	0	0	0	11232	1115	39	1	153	1	OR5W2	11	55681278	Missense_Mutation	SNP	G	TCGA-EJ-5507-01A-01D-1576-08	570318	55681278	79325238	27	2334											
OR9Q2	219957	broad.mit.edu	37	chr11	57957991	57957991	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggaattacaccgtagtgaCggagttcttccttactgcat	11	12	9	9	2	1	1	0	1	1	0	2	3	2	3	2	2	3	3	2	2	5	5			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr11:57957991C>T	ENST00000311591.3	+	1	86	c.29C>T	c.(28-30)aCg>aTg	p.T10M		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T10M(1)		breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				ACCGTAGTGACGGAGTTCTTC	0.463													12	156					0	0	0.457914	0	0	T	57957991	C	T	57957991	3	4	45	1	0	0	0	0	1	0	0	0	11303	536	19	1	31	1	OR9Q2	11	57957991	Missense_Mutation	SNP	C	TCGA-EJ-5507-01A-01D-1576-08	2276713	57957991	77048525	28	2335											
SNX15	29907	broad.mit.edu	37	chr11	64802432	64802432	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagctcaaggagttcttcCgggtatgtgcaccttccacc	7	10	9	15	1	2	0	1	0	1	0	4	1	4	1	5	2	2	4	5	2	2	4			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr11:64802432C>T	ENST00000377244.3	+	4	500	c.370C>T	c.(370-372)Cgg>Tgg	p.R124W	SNX15_ENST00000301886.3_3'UTR	NM_013306.4|NM_147777.3	NP_037438.2|NP_680086.2	Q9NRS6	SNX15_HUMAN	sorting nexin 15	124	PX.				cell communication|intracellular protein transport	cytoplasmic vesicle membrane|cytosol	phosphatidylinositol binding|protein transporter activity	p.R124W(1)		endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						GGAGTTCTTCCGGGTATGTGC	0.582													27	65					0	0	0.693898	0	0	T	64802432	C	T	64802432	3	4	45	1	0	0	0	0	1	0	0	0	14940	643	23	1	384	1	SNX15	11	64802432	Missense_Mutation	SNP	C	TCGA-EJ-5507-01A-01D-1576-08	6844441	64802432	70204084	29	2336											
MYEOV	26579	broad.mit.edu	37	chr11	69063421	69063425	+	Frame_Shift_Del	DEL	CTTTA	CTTTA	-																															gttgctcacctgggagaagcCtttagagtgggcgttgagca																										TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr11:69063421_69063425delCTTTA	ENST00000535407.1	+	2	973_977	c.330_334delCTTTA	c.(328-336)gcgafs	p.AFR110fs	MYEOV_ENST00000308946.3_Frame_Shift_Del_p.AFR168fs|MYEOV_ENST00000441339.2_Frame_Shift_Del_p.AFR168fs			Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	168										endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		TGGGAGAAGCCTTTAGAGTGGGCGT	0.585													90	356	---	---	---	---						-	69063425	CTTTA	-	69063421	7	5	45	1	0	1	0	1	0	0	0	0	10073	668	24	0	510	0	MYEOV	11	69063421	Frame_Shift_Del	DEL	CTTTA	TCGA-EJ-5507-01A-01D-1576-08	4260989	69063421	65943095	30	2337											
ATM	472	broad.mit.edu	37	chr11	108235812	108235812	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttctctctgtttaggtcCttctatatgatccactcttt	6	20	5	10	0	4	1	0	1	4	0	7	1	6	1	2	1	0	2	2	1	3	7			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr11:108235812C>T	ENST00000278616.4	+	62	9239	c.8854C>T	c.(8854-8856)Ctt>Ttt	p.L2952F	ATM_ENST00000525178.1_3'UTR|C11orf65_ENST00000526725.1_Intron|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.L2952F	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2952	PI3K/PI4K.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.L2952F(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TGTTTAGGTCCTTCTATATGA	0.368			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			4	102					0	0	0.184627	0	0	T	108235812	C	T	108235812	3	4	45	1	0	0	0	0	1	0	0	0	1108	681	24	2	9096	2	ATM	11	108235812	Missense_Mutation	SNP	C	TCGA-EJ-5507-01A-01D-1576-08	39172391	108235812	26770704	31	2338											
USP15	9958	broad.mit.edu	37	chr12	62688039	62688039	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggacaaataccagatgggaGatcaaaatgtgtatcctgga	15	8	12	6	0	1	2	1	0	0	2	2	5	2	4	2	3	1	1	2	3	5	2			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr12:62688039G>A	ENST00000280377.5	+	2	227	c.169G>A	c.(169-171)Gat>Aat	p.D57N	USP15_ENST00000393654.3_Missense_Mutation_p.D57N|USP15_ENST00000312635.6_Missense_Mutation_p.D57N|USP15_ENST00000353364.3_Missense_Mutation_p.D57N|USP15_ENST00000550632.1_3'UTR	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	57	DUSP.				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.D57N(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		CCAGATGGGAGATCAAAATGT	0.353													57	125					0	0	0.870114	0	0	A	62688039	G	A	62688039	3	1	45	1	0	0	0	0	1	0	0	0	17106	942	33	2	175	2	USP15	12	62688039	Missense_Mutation	SNP	G	TCGA-EJ-5507-01A-01D-1576-08		62688039	71163856	32	2339											
MYBPC1	4604	broad.mit.edu	37	chr12	102067275	102067275	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taagaatcaaataaacattcGcaactctgagactgatacaa	19	9	5	8	1	2	3	1	2	1	2	3	4	2	3	0	0	3	1	0	0	8	4	rs151310085		TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr12:102067275G>A	ENST00000549145.1	+	25	2802	c.2702G>A	c.(2701-2703)cGc>cAc	p.R901H	MYBPC1_ENST00000392934.3_Missense_Mutation_p.R857H|MYBPC1_ENST00000551300.1_Missense_Mutation_p.R771H|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000361685.2_Missense_Mutation_p.R895H|MYBPC1_ENST00000550270.1_Missense_Mutation_p.R888H|MYBPC1_ENST00000547509.1_Missense_Mutation_p.R856H|MYBPC1_ENST00000545503.2_Missense_Mutation_p.R870H|MYBPC1_ENST00000547405.1_Missense_Mutation_p.R844H|MYBPC1_ENST00000541119.1_Missense_Mutation_p.R858H|MYBPC1_ENST00000536007.1_Missense_Mutation_p.R851H|MYBPC1_ENST00000441232.1_Missense_Mutation_p.R888H|MYBPC1_ENST00000361466.2_Missense_Mutation_p.R895H|MYBPC1_ENST00000360610.2_Missense_Mutation_p.R888H|MYBPC1_ENST00000553190.1_Missense_Mutation_p.R870H|MYBPC1_ENST00000452455.2_Missense_Mutation_p.R888H			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	888	Ig-like C2-type 6.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	p.R895H(1)|p.R888H(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						ATAAACATTCGCAACTCTGAG	0.383													49	385					0	0	0.870114	0	0	A	102067275	G	A	102067275	3	1	45	1	0	0	0	0	1	0	0	0	10059	1087	38	1	2840	1	MYBPC1	12	102067275	Missense_Mutation	SNP	G	TCGA-EJ-5507-01A-01D-1576-08	39379236	102067275	31784620	33	2340											
KIAA1704	0	broad.mit.edu	37	chr13	45594565	45594565	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcaggtatcttcatacaatgTaagtaagaaaataagatata	19	11	7	4	0	2	2	1	0	1	2	2	2	2	2	0	1	1	4	0	1	10	8			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr13:45594565T>A	ENST00000361121.2	+	7	839		c.e7+2		RP11-321C24.1_ENST00000437748.2_lincRNA|KIAA1704_ENST00000379151.4_Splice_Site|KIAA1704_ENST00000357537.3_Splice_Site			Q8IXQ4	K1704_HUMAN										p.?(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|prostate(2)|skin(1)	12		Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126)		TCATACAATGTAAGTAAGAAA	0.418													5	91					0	0	0.184627	0	0	A	45594565	T	A	45594565	5	1	45	1	0	0	0	0	0	0	1	0	8294	1652	57	5	832	5	KIAA1704	13	45594565	Splice_Site	SNP	T	TCGA-EJ-5507-01A-01D-1576-08		45594565	69575313	34	2341											
KLC1	3831	broad.mit.edu	37	chr14	104124043	104124043	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcagtctgtggctcaacTggaggaggagaagaagcatc	12	7	15	7	0	2	3	1	1	1	2	3	6	2	5	0	4	3	3	0	4	3	0			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr14:104124043T>C	ENST00000389744.4	+	3	691	c.422T>C	c.(421-423)cTg>cCg	p.L141P	KLC1_ENST00000555836.1_Missense_Mutation_p.L141P|KLC1_ENST00000553286.1_Missense_Mutation_p.L141P|RP11-73M18.2_ENST00000472726.2_Missense_Mutation_p.L313P|KLC1_ENST00000347839.6_Missense_Mutation_p.L141P|KLC1_ENST00000557575.1_Missense_Mutation_p.L141P|KLC1_ENST00000452929.2_Missense_Mutation_p.L141P|KLC1_ENST00000554280.1_Missense_Mutation_p.L141P|KLC1_ENST00000445352.4_Missense_Mutation_p.L141P|KLC1_ENST00000380038.3_Missense_Mutation_p.L141P|KLC1_ENST00000348520.6_Missense_Mutation_p.L141P|KLC1_ENST00000557450.1_Missense_Mutation_p.L141P|KLC1_ENST00000334553.6_Missense_Mutation_p.L141P|KLC1_ENST00000246489.7_Missense_Mutation_p.L141P			Q07866	KLC1_HUMAN	kinesin light chain 1	141					blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding	p.L141P(1)	KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				GTGGCTCAACTGGAGGAGGAG	0.502													3	77					0	0	0.115264	0	0	C	104124043	T	C	104124043	3	2	45	1	0	0	0	0	1	0	0	0	8376	1580	55	3	428	3	KLC1	14	104124043	Missense_Mutation	SNP	T	TCGA-EJ-5507-01A-01D-1576-08		104124043	3225497	35	2342											
ZFHX3	463	broad.mit.edu	37	chr16	72827588	72827588	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacttcttttcttttgccCgggcattctggaaccagacc	6	14	9	12	1	3	1	0	0	3	1	3	3	3	3	3	3	2	1	3	3	1	6			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr16:72827588C>T	ENST00000268489.5	-	9	9665	c.8993G>A	c.(8992-8994)cGg>cAg	p.R2998Q	ZFHX3_ENST00000397992.5_Missense_Mutation_p.R2084Q	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2998					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.R2998Q(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TTCTTTTGCCCGGGCATTCTG	0.463													51	220					0	0	0.870114	0	0	T	72827588	C	T	72827588	3	4	45	1	0	0	0	0	1	0	0	0	17692	652	23	1	2126	1	ZFHX3	16	72827588	Missense_Mutation	SNP	C	TCGA-EJ-5507-01A-01D-1576-08		72827588	17527165	36	2343											
TP53	7157	broad.mit.edu	37	chr17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgctcatggtgggggcagCgcctcacaacctccgtcatg	7	7	13	14	3	3	0	3	0	0	0	4	0	4	0	3	3	3	2	3	3	1	0	rs28934578		TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr17:7578406C>T	ENST00000420246.2	-	5	656	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)		GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)			32	31					0	0	0.779181	0	0	T	7578406	C	T	7578406	3	4	45	1	0	0	0	0	1	0	0	0	16442	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-EJ-5507-01A-01D-1576-08		7578406	73616804	37	2344											
ACE	1636	broad.mit.edu	37	chr17	61557835	61557835	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgccgcgcactgcatcgcCgatacggagacagatacatc	10	6	10	15	6	0	2	0	0	0	2	3	4	1	2	3	1	3	2	3	1	2	2	rs138873311	byFrequency	TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr17:61557835C>G	ENST00000290866.4	+	5	817	c.793C>G	c.(793-795)Cga>Gga	p.R265G	ACE_ENST00000428043.1_Missense_Mutation_p.R265G|ACE_ENST00000538928.1_Missense_Mutation_p.R265G|ACE_ENST00000584529.1_3'UTR	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	265	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	p.R265G(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	ACTGCATCGCCGATACGGAGA	0.602													65	96					0	0	0.870114	0	0	G	61557835	C	G	61557835	3	3	45	1	0	0	0	0	1	0	0	0	136	644	23	4	811	4	ACE	17	61557835	Missense_Mutation	SNP	C	TCGA-EJ-5507-01A-01D-1576-08	53979429	61557835	19637375	38	2345											
CACNG4	27092	broad.mit.edu	37	chr17	65021047	65021047	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctgggtggcctgtgcatcGgtgctggcaggatctacagc	5	10	16	10	1	1	0	0	0	1	0	2	1	1	1	1	5	5	4	1	5	1	1			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr17:65021047G>A	ENST00000262138.3	+	3	378	c.376G>A	c.(376-378)Ggt>Agt	p.G126S		NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	126					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity	p.G126S(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			CCTGTGCATCGGTGCTGGCAG	0.672													80	88					0	0	0.870114	0	0	A	65021047	G	A	65021047	3	1	45	1	0	0	0	0	1	0	0	0	2577	1116	39	1	386	1	CACNG4	17	65021047	Missense_Mutation	SNP	G	TCGA-EJ-5507-01A-01D-1576-08	3463212	65021047	16174163	39	2346											
PPP5C	5536	broad.mit.edu	37	chr19	46850390	46850400	+	Frame_Shift_Del	DEL	GAGCCCCCCCG	GAGCCCCCCCG	-																															gcgagaggactgagtgtgctGagcccccccgggacgaaccc																								rs150667064	byFrequency	TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr19:46850390_46850400delGAGCCCCCCCG	ENST00000012443.4	+	1	140_150	c.37_47delGAGCCCCCCCG	c.(37-48)gfs	p.EPPR13fs	PPP5C_ENST00000391919.1_5'UTR	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	13					mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent	Golgi apparatus|nucleus	metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity	p.R16fs*7(1)|p.P14H(1)		endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		TGAGTGTGCTGAGCCCCCCCGGGACGAACCC	0.687											OREG0025570	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	9	---	---	---	---						-	46850400	GAGCCCCCCCG	-	46850390	7	5	45	1	0	1	0	1	0	0	0	0	12455	1291	45	0	39	0	PPP5C	19	46850390	Frame_Shift_Del	DEL	GAGCCCCCCCG	TCGA-EJ-5507-01A-01D-1576-08		46850390	12278593	40	2347											
USP29	0	broad.mit.edu	37	chr19	57640708	57640708	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttagaaaaagatagagattTgaaactcgggccttcattca	15	12	8	6	1	2	4	2	1	0	3	3	5	2	4	1	1	1	0	1	1	5	6			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr19:57640708T>C	ENST00000254181.4	+	4	1119	c.665T>C	c.(664-666)tTg>tCg	p.L222S	USP29_ENST00000598197.1_Missense_Mutation_p.L222S	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	222					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	p.L222S(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GATAGAGATTTGAAACTCGGG	0.363													55	139					0	0	0.870114	0	0	C	57640708	T	C	57640708	3	2	45	1	0	0	0	0	1	0	0	0	17119	1821	63	3	667	3	USP29	19	57640708	Missense_Mutation	SNP	T	TCGA-EJ-5507-01A-01D-1576-08	10790318	57640708	1488275	41	2348											
EMILIN3	90187	broad.mit.edu	37	chr20	39990961	39990961	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcctcgtaagctcatccccGgccggggcaccggggcccct	5	5	13	18	4	1	0	1	0	0	0	3	0	2	0	7	5	2	3	7	5	1	1			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr20:39990961G>A	ENST00000332312.3	-	4	1440	c.1248C>T	c.(1246-1248)gcC>gcT	p.A416A		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	416						proteinaceous extracellular matrix		p.A416A(1)		biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				GCTCATCCCCGGCCGGGGCAC	0.642													49	93					0	0	0.870114	0	0	A	39990961	G	A	39990961	2	1	45	1	0	0	0	0	0	0	0	1	5123	1103	39	1		1	EMILIN3	20	39990961	Silent	SNP	G	TCGA-EJ-5507-01A-01D-1576-08		39990961	23034559	42	2349											
SEZ6L	23544	broad.mit.edu	37	chr22	26688423	26688423	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtccttacctcctgccctCaggagccccggagagaggca	7	6	13	15	1	1	1	1	0	0	1	3	4	3	3	6	4	3	1	6	4	1	1			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr22:26688423C>A	ENST00000529632.2	+	2	342	c.146C>A	c.(145-147)tCa>tAa	p.S49*	SEZ6L_ENST00000404234.3_Nonsense_Mutation_p.S49*|SEZ6L_ENST00000248933.6_Nonsense_Mutation_p.S49*|SEZ6L_ENST00000360929.3_Nonsense_Mutation_p.S49*|SEZ6L_ENST00000343706.4_Nonsense_Mutation_p.S49*|SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000403121.1_5'UTR	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	49						endoplasmic reticulum membrane|integral to membrane		p.S49*(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CTCCTGCCCTCAGGAGCCCCG	0.582													31	66					1.62565e-12	1.89106e-12	0.760397	1	0	A	26688423	C	A	26688423	4	1	45	1	0	0	0	0	0	1	0	0	14197	838	29	4	152	4	SEZ6L	22	26688423	Nonsense_Mutation	SNP	C	TCGA-EJ-5507-01A-01D-1576-08		26688423	24616143	43	2350											
DUSP18	0	broad.mit.edu	37	chr22	31059967	31059967	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggctgccggaactgaactggGaaggcacacgagggtgctgt	9	6	17	9	2	0	1	0	1	0	0	0	4	0	3	1	5	4	3	1	5	3	0			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chr22:31059967G>A	ENST00000403268.1	-	2	494	c.24C>T	c.(22-24)ttC>ttT	p.F8F	DUSP18_ENST00000407308.1_Silent_p.F8F|DUSP18_ENST00000461301.1_Intron|DUSP18_ENST00000334679.3_Silent_p.F8F|DUSP18_ENST00000404885.1_Silent_p.F8F			Q8NEJ0	DUS18_HUMAN	dual specificity phosphatase 18	8						cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	p.F8F(2)		large_intestine(1)|lung(1)|prostate(1)|skin(1)	4						ACTGAACTGGGAAGGCACACG	0.562													16	36					0	0	0.500413	0	0	A	31059967	G	A	31059967	2	1	45	1	0	0	0	0	0	0	0	1	4843	1165	41	2		2	DUSP18	22	31059967	Silent	SNP	G	TCGA-EJ-5507-01A-01D-1576-08	4371544	31059967	20244599	44	2351											
TEX13A	56157	broad.mit.edu	37	chrX	104463752	104463752	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtcccagtcccctggcctgCgatatactggaggtctttgc	6	11	11	13	1	1	0	0	0	1	0	3	2	3	1	4	3	3	0	4	3	2	3			TCGA-EJ-5507-01A-01D-1576-08	TCGA-EJ-5507-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5048e04-2519-42cc-8990-41612b2ad528	8285618d-a4b6-4641-b39e-18b2d8a40bcc	g.chrX:104463752C>T	ENST00000413579.1	-	5	1235	c.1124G>A	c.(1123-1125)cGc>cAc	p.R375H	TEX13A_ENST00000372578.3_3'UTR|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372575.1_3'UTR|IL1RAPL2_ENST00000372582.1_Intron			Q9BXU3	TX13A_HUMAN	testis expressed 13A	375						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						CCCTGGCCTGCGATATACTGG	0.542													6	197					0	0	0.217242	0	0	T	104463752	C	T	104463752	3	4	45	1	0	0	0	0	1	0	0	0	15835	768	27	1	109	1	TEX13A	23	104463752	Missense_Mutation	SNP	C	TCGA-EJ-5507-01A-01D-1576-08		104463752	50806808	45	2352											
KLHL21	9903	broad.mit.edu	37	chr1	6659137	6659137	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acatgagtccgtttagagtcGcagtcttgggggcgaaggac	9	9	15	8	3	1	2	0	1	1	1	3	4	2	3	1	3	0	2	1	3	2	3			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr1:6659137G>A	ENST00000377663.3	-	2	1580	c.1397C>T	c.(1396-1398)gCg>gTg	p.A466V	KLHL21_ENST00000467612.1_Missense_Mutation_p.A99V|KLHL21_ENST00000463043.1_Missense_Mutation_p.A99V|KLHL21_ENST00000377658.4_Missense_Mutation_p.A466V			Q9UJP4	KLH21_HUMAN	kelch-like family member 21	466					anaphase|cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|polar microtubule		p.A466V(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|prostate(2)	8	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.4e-05)|Kidney(185;4.95e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000528)|KIRC - Kidney renal clear cell carcinoma(229;0.000927)|STAD - Stomach adenocarcinoma(132;0.0172)|READ - Rectum adenocarcinoma(331;0.0644)		GTTTAGAGTCGCAGTCTTGGG	0.592													3	21					0	0	0.115264	0	0	A	6659137	G	A	6659137	3	1	46	1	0	0	0	0	1	0	0	0	8419	1087	38	1	408	1	KLHL21	1	6659137	Missense_Mutation	SNP	G	TCGA-EJ-5508-01A-02D-1576-08		6659137	242591484	1	2353											
USP48	84196	broad.mit.edu	37	chr1	22056252	22056252	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtttgcagtctataaaccaaCatatatgcatttcgagagca	14	12	7	8	1	1	1	0	0	1	1	2	2	1	1	1	0	5	4	1	0	6	6			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr1:22056252C>A	ENST00000308271.9	-	10	1893	c.1245G>T	c.(1243-1245)atG>atT	p.M415I	USP48_ENST00000400301.1_Missense_Mutation_p.M415I|USP48_ENST00000421625.2_Missense_Mutation_p.M415I|USP48_ENST00000529637.1_Missense_Mutation_p.M414I	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	415					ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.M415I(2)		NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		TATAAACCAACATATATGCAT	0.398													11	304					2.80697e-09	3.18124e-09	0.38729	1	0	A	22056252	C	A	22056252	3	1	46	1	0	0	0	0	1	0	0	0	17139	478	17	4	1942	4	USP48	1	22056252	Missense_Mutation	SNP	C	TCGA-EJ-5508-01A-02D-1576-08	15397115	22056252	227194369	2	2354											
PLK3	1263	broad.mit.edu	37	chr1	45269352	45269352	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catccgttggccatcaggatGccaggccagaggtgaggcgc	8	6	15	12	2	1	2	1	1	0	1	2	3	2	3	4	5	1	1	4	5	0	1			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr1:45269352G>T	ENST00000372201.4	+	9	1392	c.1153G>T	c.(1153-1155)Gcc>Tcc	p.A385S	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	385						membrane	ATP binding|protein binding|protein serine/threonine kinase activity	p.A346S(1)		endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					CCATCAGGATGCCAGGCCAGA	0.597													7	38					0.0293803	0.0307364	0.248553	1	0	T	45269352	G	T	45269352	3	4	46	1	0	0	0	0	1	0	0	0	12145	1319	46	4	1187	4	PLK3	1	45269352	Missense_Mutation	SNP	G	TCGA-EJ-5508-01A-02D-1576-08	23213100	45269352	203981269	3	2355											
BRDT	676	broad.mit.edu	37	chr1	92446630	92446630	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttctctgagcaattccaatCctgatgagatagagatagac	13	11	8	9	0	1	5	0	3	1	3	4	7	3	5	2	0	1	1	2	0	4	4			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr1:92446630C>T	ENST00000370389.2	+	10	2350	c.1426C>T	c.(1426-1428)Cct>Tct	p.P476S	BRDT_ENST00000394530.3_Missense_Mutation_p.P503S|BRDT_ENST00000399546.2_Missense_Mutation_p.P549S|BRDT_ENST00000402388.1_Missense_Mutation_p.P549S|BRDT_ENST00000362005.3_Missense_Mutation_p.P549S	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	549					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	p.P549S(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		CAATTCCAATCCTGATGAGAT	0.368													5	141					0	0	0.184627	0	0	T	92446630	C	T	92446630	3	4	46	1	0	0	0	0	1	0	0	0	1510	855	30	2	1679	2	BRDT	1	92446630	Missense_Mutation	SNP	C	TCGA-EJ-5508-01A-02D-1576-08	47177278	92446630	156803991	4	2356											
ASTN1	460	broad.mit.edu	37	chr1	176853612	176853612	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgctgggctcgtgaaccGtggagagtctcagcctgtgt	5	11	15	10	2	1	2	1	1	1	1	3	3	1	2	2	2	4	3	2	2	1	0	rs143440206	byFrequency	TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr1:176853612G>A	ENST00000367654.2	-	19	3126	c.3113C>T	c.(3112-3114)aCg>aTg	p.T1038M	ASTN1_ENST00000367657.3_Missense_Mutation_p.T1030M|ASTN1_ENST00000424564.2_Missense_Mutation_p.T1030M|ASTN1_ENST00000361833.2_Missense_Mutation_p.T1030M			O14525	ASTN1_HUMAN	astrotactin 1	1038	Fibronectin type-III 1.				cell migration|neuron cell-cell adhesion	integral to membrane		p.T1030M(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CTCGTGAACCGTGGAGAGTCT	0.517													22	119					0	0	0.639603	0	0	A	176853612	G	A	176853612	3	1	46	1	0	0	0	0	1	0	0	0	1063	1145	40	1	819	1	ASTN1	1	176853612	Missense_Mutation	SNP	G	TCGA-EJ-5508-01A-02D-1576-08	84406982	176853612	72397009	5	2357											
PLA2G4A	5321	broad.mit.edu	37	chr1	186915809	186915809	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacgaaattggcatggctaaAtatggtacttttatggctcc	11	14	9	7	1	0	0	0	0	0	0	1	1	1	0	1	4	2	4	1	4	7	7			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr1:186915809A>G	ENST00000367466.3	+	11	1226	c.1074A>G	c.(1072-1074)aaA>aaG	p.K358K	PLA2G4A_ENST00000442353.2_Silent_p.K298K	NM_024420.2	NP_077734.1	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	358	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity	p.K358K(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	GCATGGCTAAATATGGTACTT	0.358													23	121					0	0	0.740014	0	0	G	186915809	A	G	186915809	2	3	46	1	0	0	0	0	0	0	0	1	12049	98	4	3		3	PLA2G4A	1	186915809	Silent	SNP	A	TCGA-EJ-5508-01A-02D-1576-08	10062197	186915809	62334812	6	2358											
DISP1	84976	broad.mit.edu	37	chr1	223178140	223178162	+	Frame_Shift_Del	DEL	TTGGACCACAGGGTACCTGTGGT	TTGGACCACAGGGTACCTGTGGT	-																															ccagtgcatgtgccggtgccTtggaccacagggtacctgtg																										TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr1:223178140_223178162delTTGGACCACAGGGTACCTGTGGT	ENST00000284476.6	+	8	3565_3587	c.3401_3423delTTGGACCACAGGGTACCTGTGGT	c.(3400-3423)cfs	p.LGPQGTCG1134fs		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1134					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TGCCGGTGCCTTGGACCACAGGGTACCTGTGGTCAGATTCCTT	0.48													8	186	---	---	---	---						-	223178162	TTGGACCACAGGGTACCTGTGGT	-	223178140	7	5	46	1	0	1	0	1	0	0	0	0	4567	1609	56	0	3427	0	DISP1	1	223178140	Frame_Shift_Del	DEL	TTGGACCACAGGGTACCTGTGGT	TCGA-EJ-5508-01A-02D-1576-08	36262331	223178140	26072481	7	2359											
XIRP2	129446	broad.mit.edu	37	chr2	168105389	168105389	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaacaattatctattgactCtgcaaactgtctctcacaca	15	12	3	11	0	4	1	1	1	3	0	5	1	4	1	0	0	3	1	0	0	6	3			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr2:168105389C>T	ENST00000409195.1	+	9	7576	c.7487C>T	c.(7486-7488)tCt>tTt	p.S2496F	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S2274F|XIRP2_ENST00000295237.9_Missense_Mutation_p.S2496F|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2321					actin cytoskeleton organization	cell junction	actin binding	p.S2496F(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TCTATTGACTCTGCAAACTGT	0.398													9	172					0	0	0.307466	0	0	T	168105389	C	T	168105389	3	4	46	1	0	0	0	0	1	0	0	0	17490	913	32	2	7517	2	XIRP2	2	168105389	Missense_Mutation	SNP	C	TCGA-EJ-5508-01A-02D-1576-08		168105389	75093984	8	2360											
MSTN	2660	broad.mit.edu	37	chr2	190925125	190925125	+	Frame_Shift_Del	DEL	C	C	-																															agctaaatttaaagaagcaaCatttgggttttccatccact																										TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr2:190925125delC	ENST00000260950.4	-	2	542	c.410delG	c.(409-411)ttfs	p.C138fs	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	138					muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			AAAGAAGCAACATTTGGGTTT	0.328													10	160	---	---	---	---						-	190925125	C	-	190925125	7	5	46	1	0	1	0	1	0	0	0	0	9941	478	17	0	725	0	MSTN	2	190925125	Frame_Shift_Del	DEL	C	TCGA-EJ-5508-01A-02D-1576-08	22819736	190925125	52274248	9	2361											
HYAL3	8372	broad.mit.edu	37	chr3	50332156	50332156	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttacctgggacaggaacctcCcagatctccggtgtgtgagg	8	9	13	11	1	1	2	0	1	1	1	3	4	2	4	4	4	2	0	4	4	2	1			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr3:50332156C>A	ENST00000336307.1	-	2	1150	c.878G>T	c.(877-879)gGg>gTg	p.G293V	HYAL3_ENST00000513170.1_Missense_Mutation_p.G44V|HYAL3_ENST00000359051.3_Missense_Mutation_p.G293V|HYAL3_ENST00000450982.1_Missense_Mutation_p.G293V|HYAL3_ENST00000415204.1_Missense_Mutation_p.G44V	NM_001200029.1|NM_003549.3	NP_001186958.1|NP_003540.2	O43820	HYAL3_HUMAN	hyaluronoglucosaminidase 3	293					carbohydrate metabolic process	extracellular region|lysosome	hyalurononglucosaminidase activity	p.G293V(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CAGGAACCTCCCAGATCTCCG	0.612													27	119					5.45727e-16	6.51043e-16	0.729181	1	0	A	50332156	C	A	50332156	3	1	46	1	0	0	0	0	1	0	0	0	7509	623	22	4	387	4	HYAL3	3	50332156	Missense_Mutation	SNP	C	TCGA-EJ-5508-01A-02D-1576-08		50332156	147690274	10	2362											
ARHGEF3	50650	broad.mit.edu	37	chr3	56779442	56779442	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtccagcagagctttggCggctacttgattgctgcagt	6	12	14	9	1	0	2	0	1	0	1	1	2	1	2	1	3	5	5	1	3	1	4			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr3:56779442C>T	ENST00000413728.2	-	7	1222	c.679G>A	c.(679-681)Gcc>Acc	p.A227T	ARHGEF3_ENST00000496106.1_Missense_Mutation_p.A227T|ARHGEF3_ENST00000338458.4_Missense_Mutation_p.A253T|ARHGEF3_ENST00000497267.1_Missense_Mutation_p.A192T|ARHGEF3_ENST00000495373.1_Missense_Mutation_p.A221T|ARHGEF3_ENST00000296315.3_Missense_Mutation_p.A221T	NM_001128616.1	NP_001122088.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	221	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		AGAGCTTTGGCGGCTACTTGA	0.463													5	295					0	0	0.184627	0	0	T	56779442	C	T	56779442	3	4	46	1	0	0	0	0	1	0	0	0	901	768	27	1	935	1	ARHGEF3	3	56779442	Missense_Mutation	SNP	C	TCGA-EJ-5508-01A-02D-1576-08	6447286	56779442	141242988	11	2363											
SENP7	57337	broad.mit.edu	37	chr3	101049201	101049201	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaatcctctgcactcaaagAcagtgtcgaagtagtacgta	13	9	10	9	2	2	1	1	0	1	1	4	3	3	2	1	1	2	4	1	1	6	3			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr3:101049201A>G	ENST00000394095.2	-	20	2781	c.2728T>C	c.(2728-2730)Tct>Cct	p.S910P	SENP7_ENST00000358203.3_Missense_Mutation_p.S746P|SENP7_ENST00000314261.7_Missense_Mutation_p.S844P|SENP7_ENST00000394094.2_Missense_Mutation_p.S845P|SENP7_ENST00000394085.3_Missense_Mutation_p.S98P|SENP7_ENST00000394091.1_Missense_Mutation_p.S746P|SENP7_ENST00000348610.3_Missense_Mutation_p.S877P	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	910	Protease.				proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GCACTCAAAGACAGTGTCGAA	0.328													3	98					0	0	0.184627	0	0	G	101049201	A	G	101049201	3	3	46	1	0	0	0	0	1	0	0	0	14105	275	10	3	444	3	SENP7	3	101049201	Missense_Mutation	SNP	A	TCGA-EJ-5508-01A-02D-1576-08	44269759	101049201	96973229	12	2364											
ANK2	287	broad.mit.edu	37	chr4	114161711	114161711	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcaactcttcttctaaaccGgggagctgctgtggacttca	8	11	11	11	1	4	0	1	0	3	0	4	2	4	2	1	4	4	3	1	4	3	4			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr4:114161711G>A	ENST00000357077.4	+	8	817	c.764G>A	c.(763-765)cGg>cAg	p.R255Q	ANK2_ENST00000506722.1_Missense_Mutation_p.R234Q|ANK2_ENST00000264366.6_Missense_Mutation_p.R255Q|ANK2_ENST00000394537.3_Missense_Mutation_p.R255Q	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	255					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.R255Q(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CTTCTAAACCGGGGAGCTGCT	0.393													30	175					0	0	0.796494	0	0	A	114161711	G	A	114161711	3	1	46	1	0	0	0	0	1	0	0	0	617	1116	39	1	819	1	ANK2	4	114161711	Missense_Mutation	SNP	G	TCGA-EJ-5508-01A-02D-1576-08		114161711	76992565	13	2365											
RHOBTB3	22836	broad.mit.edu	37	chr5	95128826	95128826	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatgtacttgaagcagcttgCggaatacaggaagtatattc	13	12	10	6	1	0	1	0	1	0	0	1	3	0	3	0	2	5	4	0	2	8	8	rs148767115		TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr5:95128826C>T	ENST00000379982.3	+	12	2292	c.1784C>T	c.(1783-1785)gCg>gTg	p.A595V	RHOBTB3_ENST00000504179.1_Missense_Mutation_p.A226V|GLRX_ENST00000507605.1_Intron|GLRX_ENST00000508780.1_Intron	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	595	Interaction with Rab9.				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		AAGCAGCTTGCGGAATACAGG	0.363													4	149					0	0	0.184627	0	0	T	95128826	C	T	95128826	3	4	46	1	0	0	0	0	1	0	0	0	13385	768	27	1	1830	1	RHOBTB3	5	95128826	Missense_Mutation	SNP	C	TCGA-EJ-5508-01A-02D-1576-08		95128826	85786434	14	2366											
ADRB2	154	broad.mit.edu	37	chr5	148206406	148206406	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgcgccatggggcaaccCgggaacggcagcgccttctt	6	6	14	15	5	1	0	0	0	1	0	1	1	1	1	3	4	4	2	3	4	2	2			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr5:148206406C>T	ENST00000305988.4	+	1	251	c.12C>T	c.(10-12)ccC>ccT	p.P4P		NM_000024.5	NP_000015.1	P07550	ADRB2_HUMAN	adrenoceptor beta 2, surface	4					activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity	p.P4P(1)		endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)	TGGGGCAACCCGGGAACGGCA	0.726													7	88					0	0	0.27861	0	0	T	148206406	C	T	148206406	2	4	46	1	0	0	0	0	0	0	0	1	340	639	23	1		1	ADRB2	5	148206406	Silent	SNP	C	TCGA-EJ-5508-01A-02D-1576-08	53077580	148206406	32708854	15	2367											
APOBEC2	10930	broad.mit.edu	37	chr6	41029415	41029415	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcttcatgtgggaggagccGgagatccaggctgctctgaa	8	9	14	10	1	3	2	1	1	2	1	4	5	4	4	2	4	2	2	2	4	1	1	rs140342245	by1000genomes	TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr6:41029415G>A	ENST00000244669.2	+	2	524	c.480G>A	c.(478-480)ccG>ccA	p.P160P		NM_006789.3	NP_006780.1	Q9Y235	ABEC2_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2	160					DNA demethylation|mRNA processing		cytidine deaminase activity|RNA binding|zinc ion binding	p.P160P(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)	10	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGGAGGAGCCGGAGATCCAGG	0.537													34	143					0	0	0.779181	0	0	A	41029415	G	A	41029415	2	1	46	1	0	0	0	0	0	0	0	1	785	1103	39	1		1	APOBEC2	6	41029415	Silent	SNP	G	TCGA-EJ-5508-01A-02D-1576-08		41029415	130085652	16	2368											
ZNF292	23036	broad.mit.edu	37	chr6	87969899	87969899	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gactgttctcgaattttccaAgcaattactggcctaataca	12	13	6	10	1	1	0	0	0	1	0	3	2	2	0	2	1	3	2	2	1	6	6			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr6:87969899A>G	ENST00000369577.3	+	8	6595	c.6552A>G	c.(6550-6552)caA>caG	p.Q2184Q	ZNF292_ENST00000339907.4_Silent_p.Q2179Q	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2184					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q2039Q(1)|p.Q2184Q(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GAATTTTCCAAGCAATTACTG	0.363													8	449					0	0	0.27861	0	0	G	87969899	A	G	87969899	2	3	46	1	0	0	0	0	0	0	0	1	17883	69	3	3		3	ZNF292	6	87969899	Silent	SNP	A	TCGA-EJ-5508-01A-02D-1576-08	46940484	87969899	83145168	17	2369											
PLEKHG1	57480	broad.mit.edu	37	chr6	151161999	151161999	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtccagtctctaagggaaaaAtttcagtgtctcagttcaag	12	12	9	8	0	4	0	3	0	2	0	7	1	5	1	1	1	0	1	1	1	4	3			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr6:151161999A>C	ENST00000367328.1	+	17	4437	c.4125A>C	c.(4123-4125)aaA>aaC	p.K1375N	PLEKHG1_ENST00000358517.2_Missense_Mutation_p.K1375N	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	1375					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.K1375N(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		TAAGGGAAAAATTTCAGTGTC	0.363													28	195					0	0	0.729181	0	0	C	151161999	A	C	151161999	3	2	46	1	0	0	0	0	1	0	0	0	12116	98	4	5	4183	5	PLEKHG1	6	151161999	Missense_Mutation	SNP	A	TCGA-EJ-5508-01A-02D-1576-08	63192100	151161999	19953068	18	2370											
ABCB4	5244	broad.mit.edu	37	chr7	87104731	87104731	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagttcaaagtcgccctcCgcgctcgtggggcgccaggc	5	6	13	17	5	1	0	1	0	0	0	4	0	2	0	4	3	0	2	4	3	1	1			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr7:87104731C>T	ENST00000265723.4	-	2	162	c.51G>A	c.(49-51)gcG>gcA	p.A17A	ABCB4_ENST00000359206.3_Silent_p.A17A|ABCB4_ENST00000358400.3_Silent_p.A17A|ABCB4_ENST00000545634.1_Silent_p.A17A|ABCB4_ENST00000453593.1_Silent_p.A17A	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	17					cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	p.A17A(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					AGTCGCCCTCCGCGCTCGTGG	0.577													13	93					0	0	0.411799	0	0	T	87104731	C	T	87104731	2	4	46	1	0	0	0	0	0	0	0	1	43	639	23	1		1	ABCB4	7	87104731	Silent	SNP	C	TCGA-EJ-5508-01A-02D-1576-08		87104731	72033932	19	2371											
MTSS1	9788	broad.mit.edu	37	chr8	125565501	125565501	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagggttaacggaagcttggCcgctccacattgaggagggc	9	7	16	9	2	0	1	0	1	0	0	1	4	1	3	2	5	2	3	2	5	2	3			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr8:125565501C>T	ENST00000518547.1	-	14	2473	c.2000G>A	c.(1999-2001)gGc>gAc	p.G667D	MTSS1_ENST00000354184.4_Missense_Mutation_p.G385D|MTSS1_ENST00000325064.5_Missense_Mutation_p.G671D|MTSS1_ENST00000395508.2_Missense_Mutation_p.G441D|MTSS1_ENST00000431961.2_Missense_Mutation_p.G385D|NDUFB9_ENST00000522532.1_Intron|MTSS1_ENST00000378017.3_Missense_Mutation_p.G642D|MTSS1_ENST00000523587.1_5'UTR|MTSS1_ENST00000524090.1_Missense_Mutation_p.G557D	NM_014751.4	NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	667	Pro-rich.				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GGAAGCTTGGCCGCTCCACAT	0.612													6	263					0	0	0.217242	0	0	T	125565501	C	T	125565501	3	4	46	1	0	0	0	0	1	0	0	0	10010	739	26	2	271	2	MTSS1	8	125565501	Missense_Mutation	SNP	C	TCGA-EJ-5508-01A-02D-1576-08		125565501	20798521	20	2372											
FAM154A	158297	broad.mit.edu	37	chr9	18928742	18928742	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggctcccccatcaggccccGgtaggattgtttttgagtgg	6	11	13	11	1	1	1	1	1	0	0	2	2	2	2	4	5	0	3	4	5	1	4			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr9:18928742G>A	ENST00000380534.4	-	4	1012	c.733C>T	c.(733-735)Cgg>Tgg	p.R245W	FAM154A_ENST00000542071.1_Missense_Mutation_p.R53W|FAM154A_ENST00000380530.1_3'UTR	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	245								p.R245W(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		ATCAGGCCCCGGTAGGATTGT	0.532													21	92					0	0	0.608945	0	0	A	18928742	G	A	18928742	3	1	46	1	0	0	0	0	1	0	0	0	5493	1115	39	1	695	1	FAM154A	9	18928742	Missense_Mutation	SNP	G	TCGA-EJ-5508-01A-02D-1576-08		18928742	122284689	21	2373											
ZNF462	58499	broad.mit.edu	37	chr9	109746677	109746677	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaactggacagccaccttcGggatgagcataaggtactta	12	8	12	9	1	0	1	0	1	0	0	1	4	0	4	2	4	4	2	2	4	4	4			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr9:109746677G>C	ENST00000277225.5	+	10	7332	c.7043G>C	c.(7042-7044)cGg>cCg	p.R2348P	ZNF462_ENST00000542028.1_Missense_Mutation_p.R305P|ZNF462_ENST00000457913.1_Missense_Mutation_p.R2408P|RP11-508N12.2_ENST00000439901.1_RNA|ZNF462_ENST00000441147.2_Missense_Mutation_p.R1254P			Q96JM2	ZN462_HUMAN	zinc finger protein 462	2348					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R2348P(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AGCCACCTTCGGGATGAGCAT	0.527													20	104					0	0	0.575678	0	0	C	109746677	G	C	109746677	3	2	46	1	0	0	0	0	1	0	0	0	17983	1116	39	4	7077	4	ZNF462	9	109746677	Missense_Mutation	SNP	G	TCGA-EJ-5508-01A-02D-1576-08	90817935	109746677	31466754	22	2374											
KCNMA1	3778	broad.mit.edu	37	chr10	78647070	78647070	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtttgtcccgggactccCtggacttgggccggttctgt	2	14	13	12	2	2	0	0	0	2	0	4	2	4	2	3	4	0	2	3	4	0	3			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr10:78647070C>A	ENST00000286627.5	-	27	4443	c.3491G>T	c.(3490-3492)aGg>aTg	p.R1164M	KCNMA1_ENST00000372443.1_Missense_Mutation_p.R1191M|KCNMA1_ENST00000406533.3_Missense_Mutation_p.R1226M|KCNMA1_ENST00000286628.8_Missense_Mutation_p.R1222M|KCNMA1_ENST00000404771.3_Missense_Mutation_p.R1222M|KCNMA1_ENST00000404857.1_Missense_Mutation_p.R1205M|KCNMA1_ENST00000354353.5_Missense_Mutation_p.R1225M|KCNMA1_ENST00000372440.1_Missense_Mutation_p.R1164M	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	1222					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	p.R1164M(2)|p.R1226M(2)		breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	CCGGGACTCCCTGGACTTGGG	0.552													13	327					4.36969e-10	5.03625e-10	0.435327	1	0	A	78647070	C	A	78647070	3	1	46	1	0	0	0	0	1	0	0	0	8117	681	24	4	78	4	KCNMA1	10	78647070	Missense_Mutation	SNP	C	TCGA-EJ-5508-01A-02D-1576-08		78647070	56887677	23	2375											
FOLR3	2352	broad.mit.edu	37	chr11	71850178	71850178	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagtgctcacccaacctgggGccctggatccggcaggtatg	7	7	14	13	1	1	0	1	0	0	0	2	2	2	1	4	5	2	3	4	5	2	1			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr11:71850178G>T	ENST00000445078.2	+	3	533	c.462G>T	c.(460-462)ggG>ggT	p.G154G	FOLR3_ENST00000442948.2_Silent_p.G113G|FOLR3_ENST00000456237.1_Silent_p.G156G			P41439	FOLR3_HUMAN	folate receptor 3 (gamma)	112					folic acid transport	extracellular region|extrinsic to membrane|membrane fraction	folic acid binding|receptor activity	p.G156G(1)		large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	CCAACCTGGGGCCCTGGATCC	0.562													6	48					2.0095e-06	2.20397e-06	0.248553	1	0	T	71850178	G	T	71850178	2	4	46	1	0	0	0	0	0	0	0	1	6016	1203	42	4		4	FOLR3	11	71850178	Silent	SNP	G	TCGA-EJ-5508-01A-02D-1576-08		71850178	63156338	24	2376											
FKBP4	2288	broad.mit.edu	37	chr12	2912357	2912357	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagaccatcccactgacaCagagatgaaggaggagcaga	16	3	13	9	0	0	5	0	2	0	3	1	9	1	7	2	3	1	1	2	3	1	0			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr12:2912357C>G	ENST00000001008.4	+	10	1500	c.1313C>G	c.(1312-1314)aCa>aGa	p.T438R	RP4-816N1.6_ENST00000547834.1_RNA|RP4-816N1.7_ENST00000547042.1_RNA	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	FK506 binding protein 4, 59kDa	438					negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding	axonal growth cone|cytosol|membrane|microtubule|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging	p.T438R(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)		Dimethyl sulfoxide(DB01093)	CCCACTGACACAGAGATGAAG	0.557													2	14					0	0	0.115264	0	0	G	2912357	C	G	2912357	3	3	46	1	0	0	0	0	1	0	0	0	5943	478	17	4	1351	4	FKBP4	12	2912357	Missense_Mutation	SNP	C	TCGA-EJ-5508-01A-02D-1576-08		2912357	130939538	25	2377											
DNM1L	10059	broad.mit.edu	37	chr12	32871615	32871615	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatcactaaacttgatctcAtggatgcgggtactgatgcc	11	12	9	9	1	2	2	2	2	1	0	3	3	2	3	1	2	4	1	1	2	4	4			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr12:32871615A>G	ENST00000452533.2	+	7	822	c.658A>G	c.(658-660)Atg>Gtg	p.M220V	DNM1L_ENST00000547312.1_Missense_Mutation_p.M220V|DNM1L_ENST00000549701.1_Missense_Mutation_p.M220V|DNM1L_ENST00000381000.4_Missense_Mutation_p.M233V|DNM1L_ENST00000553257.1_Missense_Mutation_p.M233V|DNM1L_ENST00000266481.6_Missense_Mutation_p.M220V|DNM1L_ENST00000358214.5_Missense_Mutation_p.M233V|DNM1L_ENST00000414834.2_Intron	NM_012062.3|NM_012063.2	NP_036192.2|NP_036193.2	O00429	DNM1L_HUMAN	dynamin 1-like	220	GTPase domain.				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding	p.M220V(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					ACTTGATCTCATGGATGCGGG	0.388													14	312					0	0	0.457914	0	0	G	32871615	A	G	32871615	3	3	46	1	0	0	0	0	1	0	0	0	4698	217	8	3	684	3	DNM1L	12	32871615	Missense_Mutation	SNP	A	TCGA-EJ-5508-01A-02D-1576-08	29959258	32871615	100980280	26	2378											
HAL	3034	broad.mit.edu	37	chr12	96368030	96368030	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttaaaggtcctcagactccgGgattttggtggatttcttgt	7	16	11	7	1	2	1	1	0	1	1	4	3	4	3	2	4	0	0	2	4	2	5			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr12:96368030G>A	ENST00000261208.3	-	21	2322	c.1954C>T	c.(1954-1956)Ccg>Tcg	p.P652S	HAL_ENST00000541929.1_Missense_Mutation_p.P444S|HAL_ENST00000538703.1_3'UTR	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	652					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	TCAGACTCCGGGATTTTGGTG	0.428													6	448					0	0	0.217242	0	0	A	96368030	G	A	96368030	3	1	46	1	0	0	0	0	1	0	0	0	6988	1232	43	2	23	2	HAL	12	96368030	Missense_Mutation	SNP	G	TCGA-EJ-5508-01A-02D-1576-08	63496415	96368030	37483865	27	2379											
ZDHHC20	253832	broad.mit.edu	37	chr13	21987884	21987895	+	In_Frame_Del	DEL	GTTCCTTTTCAG	GTTCCTTTTCAG	-																															gctgaattctttttcataacGttccttttcagaattggaca																										TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr13:21987884_21987895delGTTCCTTTTCAG	ENST00000400590.3	-	4	464_475	c.266_277delCTGAAAAGGAAC	c.(265-279)tgt>t	p.SEKER89del	ZDHHC20_ENST00000415724.1_In_Frame_Del_p.SEKER89del|ZDHHC20_ENST00000382466.3_In_Frame_Del_p.SEKER89del|ZDHHC20_ENST00000320220.9_In_Frame_Del_p.SEKER89del|ZDHHC20_ENST00000494731.1_5'UTR|ZDHHC20_ENST00000422251.1_In_Frame_Del_p.SEKER89del|ZDHHC20_ENST00000542645.1_In_Frame_Del_p.SEKER26del			Q5W0Z9	ZDH20_HUMAN	zinc finger, DHHC-type containing 20	89						integral to membrane	acyltransferase activity|zinc ion binding	p.K91N(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9		all_cancers(29;8.1e-16)|all_epithelial(30;3.63e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367)		all cancers(112;0.000268)|Epithelial(112;0.000735)|OV - Ovarian serous cystadenocarcinoma(117;0.00517)|Lung(94;0.171)		TTTTCATAACGTTCCTTTTCAGAATTGGACAA	0.302													8	83	---	---	---	---						-	21987895	GTTCCTTTTCAG	-	21987884	7	5	46	1	0	1	0	1	0	0	0	0	17669	1145	40	0	823	0	ZDHHC20	13	21987884	In_Frame_Del	DEL	GTTCCTTTTCAG	TCGA-EJ-5508-01A-02D-1576-08		21987884	93181994	28	2380											
UGGT2	55757	broad.mit.edu	37	chr13	96579562	96579562	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcctatccattagaaaatcaAttgcattcgtgcgatcattt	12	15	5	9	2	2	1	2	0	0	1	5	2	4	1	2	0	2	1	2	0	5	5			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr13:96579562A>G	ENST00000376747.3	-	18	2076	c.2006T>C	c.(2005-2007)aTt>aCt	p.I669T		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	669					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity	p.I669T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TAGAAAATCAATTGCATTCGT	0.303													6	154					0	0	0.248553	0	0	G	96579562	A	G	96579562	3	3	46	1	0	0	0	0	1	0	0	0	17002	101	4	3	2632	3	UGGT2	13	96579562	Missense_Mutation	SNP	A	TCGA-EJ-5508-01A-02D-1576-08	74591678	96579562	18590316	29	2381											
RALGAPA1	253959	broad.mit.edu	37	chr14	36039876	36039876	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacggcttgcatttatagcTgttgctctaaccataatggg	9	13	10	9	1	1	0	0	0	1	0	1	0	1	0	1	2	4	6	1	2	4	7			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr14:36039876T>G	ENST00000258840.6	-	39	6456	c.6066A>C	c.(6064-6066)acA>acC	p.T2022T	RALGAPA1_ENST00000389698.3_Silent_p.T1975T|RALGAPA1_ENST00000382366.3_Silent_p.T1988T|RALGAPA1_ENST00000307138.6_Silent_p.T1975T			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1975	Minimal domain that binds to TCF3/E12 (By similarity).				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	p.T1975T(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CATTTATAGCTGTTGCTCTAA	0.363													4	66					0	0	0.217242	0	0	G	36039876	T	G	36039876	2	3	46	1	0	0	0	0	0	0	0	1	13065	1567	55	5		5	RALGAPA1	14	36039876	Silent	SNP	T	TCGA-EJ-5508-01A-02D-1576-08		36039876	71309664	30	2382											
JMJD7-PLA2G4B	0	broad.mit.edu	37	chr15	42133437	42133437	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctctttccagggctgaccGtggcgagtggctcgtcagca	5	9	15	12	3	2	1	1	1	1	0	4	2	3	1	2	4	1	4	2	4	0	1			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr15:42133437G>A	ENST00000382448.4	+	11	1103	c.1094G>A	c.(1093-1095)cGt>cAt	p.R365H	JMJD7-PLA2G4B_ENST00000458483.1_Missense_Mutation_p.R134H|PLA2G4B_ENST00000452633.1_Missense_Mutation_p.R134H|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.R365H	NM_005090.3	NP_005081.1	P0C869	PA24B_HUMAN		134	PLA2c.				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity	p.R365H(1)		endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						AGGGCTGACCGTGGCGAGTGG	0.652													25	197					0	0	0.740014	0	0	A	42133437	G	A	42133437	3	1	46	1	0	0	0	0	1	0	0	0	7999	1145	40	1	1136	1	JMJD7-PLA2G4B	15	42133437	Missense_Mutation	SNP	G	TCGA-EJ-5508-01A-02D-1576-08		42133437	60397955	31	2383											
WDR72	256764	broad.mit.edu	37	chr15	54006701	54006701	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctactgataccaccaagagaGaatcttctgtgaaaataata	17	10	6	8	0	2	4	0	2	2	2	2	5	2	4	2	0	2	0	2	0	8	5			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr15:54006701G>T	ENST00000396328.1	-	6	760	c.521C>A	c.(520-522)tCt>tAt	p.S174Y	WDR72_ENST00000557913.1_Missense_Mutation_p.S173Y|WDR72_ENST00000360509.5_Missense_Mutation_p.S174Y|WDR72_ENST00000559418.1_Missense_Mutation_p.S174Y	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	174								p.S174Y(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		CACCAAGAGAGAATCTTCTGT	0.383													14	119					1.15088e-07	1.28295e-07	0.500413	1	0	T	54006701	G	T	54006701	3	4	46	1	0	0	0	0	1	0	0	0	17382	942	33	4	2847	4	WDR72	15	54006701	Missense_Mutation	SNP	G	TCGA-EJ-5508-01A-02D-1576-08	11873264	54006701	48524691	32	2384											
AQP9	366	broad.mit.edu	37	chr15	58465386	58465386	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttgtgggggctgcaaccGtctttggcatttactatggt	5	15	12	9	1	1	0	0	0	1	0	1	0	1	0	2	4	3	3	2	4	3	5	rs143617963	by1000genomes	TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr15:58465386G>A	ENST00000219919.4	+	3	728	c.358G>A	c.(358-360)Gtc>Atc	p.V120I	ALDH1A2_ENST00000558231.1_Intron|AQP9_ENST00000558772.1_Missense_Mutation_p.V55I|AQP9_ENST00000536493.1_Missense_Mutation_p.V120I	NM_020980.3	NP_066190.2	O43315	AQP9_HUMAN	aquaporin 9	120					cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity	p.V120I(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		GGCTGCAACCGTCTTTGGCAT	0.463													8	346					0	0	0.27861	0	0	A	58465386	G	A	58465386	3	1	46	1	0	0	0	0	1	0	0	0	830	1145	40	1	368	1	AQP9	15	58465386	Missense_Mutation	SNP	G	TCGA-EJ-5508-01A-02D-1576-08	4458685	58465386	44066006	33	2385											
ISLR2	57611	broad.mit.edu	37	chr15	74426317	74426317	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagggccggggcaacagcGtcctgccttccaaacccgag	9	4	12	16	3	0	0	0	0	0	0	2	1	2	0	6	3	4	1	6	3	3	1			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr15:74426317G>A	ENST00000361742.3	+	4	1991	c.1222G>A	c.(1222-1224)Gtc>Atc	p.V408I	ISLR2_ENST00000435464.1_Missense_Mutation_p.V408I|ISLR2_ENST00000565540.1_Missense_Mutation_p.V408I|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000453268.2_Missense_Mutation_p.V408I|ISLR2_ENST00000445793.1_Missense_Mutation_p.V408I|ISLR2_ENST00000419208.1_Missense_Mutation_p.V408I|ISLR2_ENST00000565159.1_Missense_Mutation_p.V408I	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	408					positive regulation of axon extension	cell surface|integral to membrane|plasma membrane		p.V408I(1)		breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						GGGCAACAGCGTCCTGCCTTC	0.662													3	19					0	0	0.115264	0	0	A	74426317	G	A	74426317	3	1	46	1	0	0	0	0	1	0	0	0	7903	1145	40	1	1224	1	ISLR2	15	74426317	Missense_Mutation	SNP	G	TCGA-EJ-5508-01A-02D-1576-08	15960931	74426317	28105075	34	2386											
ESCO1	114799	broad.mit.edu	37	chr18	19154390	19154390	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacttgaccctgaatttctcTactgcgtaacgaccttcttg	9	14	6	12	2	2	2	0	2	2	0	3	3	2	2	2	0	4	1	2	0	4	6			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr18:19154390T>A	ENST00000269214.5	-	4	1352	c.415A>T	c.(415-417)Aga>Tga	p.R139*		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	139					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	p.R139*(1)		breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						TGAATTTCTCTACTGCGTAAC	0.373													14	878					0	0	0.500413	0	0	A	19154390	T	A	19154390	4	1	46	1	0	0	0	0	0	1	0	0	5276	1530	53	5	2143	5	ESCO1	18	19154390	Nonsense_Mutation	SNP	T	TCGA-EJ-5508-01A-02D-1576-08		19154390	58922858	35	2387											
ADNP2	22850	broad.mit.edu	37	chr18	77895268	77895268	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caatggccggttccatgcccGgcatgccctctcctccagtg	5	9	10	17	2	1	0	0	0	1	0	4	0	3	0	6	3	2	2	6	3	1	1			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr18:77895268G>A	ENST00000262198.4	+	4	2427	c.1972G>A	c.(1972-1974)Ggc>Agc	p.G658S		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	658					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G658S(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		TTCCATGCCCGGCATGCCCTC	0.632													3	69					0	0	0.115264	0	0	A	77895268	G	A	77895268	3	1	46	1	0	0	0	0	1	0	0	0	323	1116	39	1	1982	1	ADNP2	18	77895268	Missense_Mutation	SNP	G	TCGA-EJ-5508-01A-02D-1576-08	58740878	77895268	181980	36	2388											
MKNK2	2872	broad.mit.edu	37	chr19	2041132	2041132	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagatgaggtctttggcagcGcaggagatgtgggcccagtc	8	8	17	8	1	1	3	0	1	1	2	2	5	1	3	1	4	1	2	1	4	0	1			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr19:2041132G>A	ENST00000250896.3	-	12	1261	c.1017C>T	c.(1015-1017)tgC>tgT	p.C339C	MKNK2_ENST00000541165.1_Silent_p.C208C|MKNK2_ENST00000309340.7_Silent_p.C339C|MKNK2_ENST00000591588.1_Silent_p.C83C|MKNK2_ENST00000591601.1_Silent_p.C339C|MKNK2_ENST00000591142.1_Silent_p.C83C|MKNK2_ENST00000588014.1_Silent_p.C83C	NM_199054.2	NP_951009.1	Q9HBH9	MKNK2_HUMAN	MAP kinase interacting serine/threonine kinase 2	339	Protein kinase.				cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation		ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|kidney(3)|large_intestine(3)|lung(3)	10		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTTGGCAGCGCAGGAGATGT	0.597													4	156					0	0	0.217242	0	0	A	2041132	G	A	2041132	2	1	46	1	0	0	0	0	0	0	0	1	9653	1079	38	1		1	MKNK2	19	2041132	Silent	SNP	G	TCGA-EJ-5508-01A-02D-1576-08		2041132	57087851	37	2389											
FBN3	84467	broad.mit.edu	37	chr19	8176568	8176568	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atccccggcaaagccctggcGgcaggtgcagcggtaggagc	8	4	16	13	3	0	0	0	0	0	0	1	1	1	1	3	6	4	4	3	6	2	1	rs149551378	byFrequency	TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr19:8176568G>A	ENST00000600128.1	-	32	4462	c.4048C>T	c.(4048-4050)Cgc>Tgc	p.R1350C	FBN3_ENST00000601739.1_Missense_Mutation_p.R1350C|FBN3_ENST00000270509.2_Missense_Mutation_p.R1350C			Q75N90	FBN3_HUMAN	fibrillin 3	1350	EGF-like 20; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	p.R1350C(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AAGCCCTGGCGGCAGGTGCAG	0.632													12	43					0	0	0.435327	0	0	A	8176568	G	A	8176568	3	1	46	1	0	0	0	0	1	0	0	0	5737	1116	39	1	4513	1	FBN3	19	8176568	Missense_Mutation	SNP	G	TCGA-EJ-5508-01A-02D-1576-08	6135436	8176568	50952415	38	2390											
DNM2	1785	broad.mit.edu	37	chr19	10904491	10904491	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctccgggggcgcccgaatcaAtcgcatcttccacgagcggt	7	7	12	15	6	2	0	1	0	1	0	5	2	4	0	3	3	1	1	3	3	2	1			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr19:10904491A>G	ENST00000314646.5	+	8	1252	c.1088A>G	c.(1087-1089)aAt>aGt	p.N363S	DNM2_ENST00000585892.1_Missense_Mutation_p.N363S|DNM2_ENST00000408974.4_Missense_Mutation_p.N363S|DNM2_ENST00000355667.6_Missense_Mutation_p.N363S|DNM2_ENST00000389253.4_Missense_Mutation_p.N363S|DNM2_ENST00000359692.6_Missense_Mutation_p.N363S			P50570	DYN2_HUMAN	dynamin 2	363					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			GCCCGAATCAATCGCATCTTC	0.617			"F, N, Splice, Mis, O"		ETP ALL								5	208					0	0	0.217242	0	0	G	10904491	A	G	10904491	3	3	46	1	0	0	0	0	1	0	0	0	4699	101	4	3	1118	3	DNM2	19	10904491	Missense_Mutation	SNP	A	TCGA-EJ-5508-01A-02D-1576-08	2727923	10904491	48224492	39	2391											
PSG9	5678	broad.mit.edu	37	chr19	43766012	43766012	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggaacagaagatactcacGgaggagattcagggtgactg	14	6	15	6	1	2	4	2	1	0	3	2	8	2	6	0	4	2	0	0	4	3	2	rs143780806	byFrequency	TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr19:43766012G>A	ENST00000244293.7	-	3	775	c.709_splice	c.e3+1	p.H237_splice	PSG9_ENST00000596730.1_Intron|PSG9_ENST00000418820.2_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000270077.3_Splice_Site_p.P237_splice|PSG9_ENST00000593948.1_Splice_Site_p.H237_splice|PSG9_ENST00000443718.3_Intron			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	236					female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				AGATACTCACGGAGGAGATTC	0.522													8	494					0	0	0.307466	0	0	A	43766012	G	A	43766012	5	1	46	1	0	0	0	0	0	0	1	0	12711	1130	39	1	587	1	PSG9	19	43766012	Splice_Site	SNP	G	TCGA-EJ-5508-01A-02D-1576-08	32861521	43766012	15362971	40	2392											
LILRB5	0	broad.mit.edu	37	chr19	54754760	54754760	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcaagctgtgtagctgggCgtaggtcacatcctgggggg	6	9	18	8	1	2	0	2	0	0	0	3	0	3	0	1	6	2	4	1	6	3	2	rs112549096	byFrequency	TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr19:54754760C>T	ENST00000316219.5	-	13	1770	c.1663G>A	c.(1663-1665)Gcc>Acc	p.A555T	LILRB5_ENST00000449561.2_Missense_Mutation_p.A556T|LILRB5_ENST00000345866.6_Missense_Mutation_p.A456T|LILRB5_ENST00000450632.1_3'UTR	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	555					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	p.A555T(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGTAGCTGGGCGTAGGTCACA	0.652													8	73					0	0	0.27861	0	0	T	54754760	C	T	54754760	3	4	46	1	0	0	0	0	1	0	0	0	8834	768	27	1	113	1	LILRB5	19	54754760	Missense_Mutation	SNP	C	TCGA-EJ-5508-01A-02D-1576-08	10988748	54754760	4374223	41	2393											
LILRB1	0	broad.mit.edu	37	chr19	55148219	55148219	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccccaggatgtgacctacGcccagctgcacagcttgacc	8	6	9	18	1	0	2	0	2	0	0	0	3	0	3	6	1	4	3	6	1	1	2			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr19:55148219G>A	ENST00000396331.1	+	16	2200	c.1843G>A	c.(1843-1845)Gcc>Acc	p.A615T	LILRB1_ENST00000396321.2_Missense_Mutation_p.A615T|LILRB1_ENST00000396317.1_Missense_Mutation_p.A599T|LILRB1_ENST00000396332.4_Missense_Mutation_p.A616T|LILRB1_ENST00000434867.2_Missense_Mutation_p.A615T|LILRB1_ENST00000324602.7_Missense_Mutation_p.A617T|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000448689.1_3'UTR|LILRB1_ENST00000396327.3_Missense_Mutation_p.A616T|LILRB1_ENST00000418536.2_Missense_Mutation_p.A599T|LILRB1_ENST00000396315.1_Missense_Mutation_p.A617T|AC009892.10_ENST00000456337.1_Intron|LILRB1_ENST00000427581.2_Missense_Mutation_p.A666T	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	615					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		TGTGACCTACGCCCAGCTGCA	0.667										HNSCC(37;0.09)			4	138					0	0	0.248553	0	0	A	55148219	G	A	55148219	3	1	46	1	0	0	0	0	1	0	0	0	8830	1087	38	1	1903	1	LILRB1	19	55148219	Missense_Mutation	SNP	G	TCGA-EJ-5508-01A-02D-1576-08	393459	55148219	3980764	42	2394											
N6AMT1	29104	broad.mit.edu	37	chr21	30255333	30255333	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaagcctgagggcctatcatAgaggctaggaatgcagatac	14	7	12	8	0	1	3	1	1	0	2	1	4	1	4	2	3	3	2	2	3	6	4			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr21:30255333A>G	ENST00000303775.5	-	2	220	c.195T>C	c.(193-195)tcT>tcC	p.S65S	N6AMT1_ENST00000351429.3_Silent_p.S65S	NM_013240.4	NP_037372.3	Q9Y5N5	HEMK2_HUMAN	N-6 adenine-specific DNA methyltransferase 1 (putative)	65					positive regulation of cell growth	protein complex	nucleic acid binding|protein binding|protein methyltransferase activity	p.S65S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)	12						GGCCTATCATAGAGGCTAGGA	0.333													24	125					0	0	0.681144	0	0	G	30255333	A	G	30255333	2	3	46	1	0	0	0	0	0	0	0	1	10162	407	15	3		3	N6AMT1	21	30255333	Silent	SNP	A	TCGA-EJ-5508-01A-02D-1576-08		30255333	17874562	43	2395											
PFKL	5211	broad.mit.edu	37	chr21	45742931	45742931	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggtggtcggtgggtttgAggtgagagctgcccacggac	5	9	19	8	2	0	2	0	2	0	1	1	4	0	3	1	6	2	3	1	6	0	1			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chr21:45742931A>G	ENST00000403390.1	+	16	1637	c.1638_splice	c.e16+1	p.E546_splice	PFKL_ENST00000349048.4_Splice_Site_p.E499_splice			P17858	K6PL_HUMAN	phosphofructokinase, liver	499					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		GGTGGGTTTGAGGTGAGAGCT	0.622													3	106					0	0	0.115264	0	0	G	45742931	A	G	45742931	5	3	46	1	0	0	0	0	0	0	1	0	11812	318	11	3	1554	3	PFKL	21	45742931	Splice_Site	SNP	A	TCGA-EJ-5508-01A-02D-1576-08	15487598	45742931	2386964	44	2396											
PIGA	5277	broad.mit.edu	37	chrX	15342939	15342939	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tactgaaggctcacataaaaTaataaggttttctggaagca	16	11	8	6	0	2	1	1	1	1	0	2	2	2	2	0	3	2	3	0	3	7	6			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chrX:15342939T>C	ENST00000333590.4	-	5	1120	c.1036A>G	c.(1036-1038)Att>Gtt	p.I346V	PIGA_ENST00000428964.1_Missense_Mutation_p.I31V|PIGA_ENST00000482148.1_5'UTR|PIGA_ENST00000542278.1_Missense_Mutation_p.I112V	NM_002641.3	NP_002632.1	P37287	PIGA_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class A	346					C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding	p.I346V(1)		endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Hepatocellular(33;0.183)					TCACATAAAATAATAAGGTTT	0.383													5	118					0	0	0.184627	0	0	C	15342939	T	C	15342939	3	2	46	1	0	0	0	0	1	0	0	0	11932	1406	49	3	426	3	PIGA	23	15342939	Missense_Mutation	SNP	T	TCGA-EJ-5508-01A-02D-1576-08		15342939	139927621	45	2397											
HUWE1	10075	broad.mit.edu	37	chrX	53657925	53657925	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtctggcctgaactgccTgcaatcgcttcctgtgatta	7	12	10	12	1	1	2	0	2	1	0	3	2	2	2	3	1	3	3	3	1	3	2			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chrX:53657925T>C	ENST00000342160.3	-	11	1281	c.824A>G	c.(823-825)cAg>cGg	p.Q275R	HUWE1_ENST00000262854.6_Missense_Mutation_p.Q275R|HUWE1_ENST00000218328.8_Missense_Mutation_p.Q275R			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	275					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						CTGAACTGCCTGCAATCGCTT	0.393													3	112					0	0	0.150653	0	0	C	53657925	T	C	53657925	3	2	46	1	0	0	0	0	1	0	0	0	7505	1580	55	3	12592	3	HUWE1	23	53657925	Missense_Mutation	SNP	T	TCGA-EJ-5508-01A-02D-1576-08	38314986	53657925	101612635	46	2398											
ATRX	546	broad.mit.edu	37	chrX	76940433	76940433	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcatctatattacctacctAcattgttcatccattccatc	10	16	1	14	0	3	0	2	0	1	0	6	0	5	0	4	0	3	1	4	0	5	8			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chrX:76940433A>C	ENST00000373344.5	-	8	874	c.660T>G	c.(658-660)tgT>tgG	p.C220W	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.C182W	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	220	ADD.		C -> R (in ATRX).|C -> Y (in MRXSHF1).		DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.C220W(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTACCTACCTACATTGTTCAT	0.328			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						4	134					0	0	0.150653	0	0	C	76940433	A	C	76940433	3	2	46	1	0	0	0	0	1	0	0	0	1206	389	14	5	6930	5	ATRX	23	76940433	Missense_Mutation	SNP	A	TCGA-EJ-5508-01A-02D-1576-08	23282508	76940433	78330127	47	2399											
HTATSF1	27336	broad.mit.edu	37	chrX	135593930	135593930	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaaaagctgtttgaagagTcagatgacaaggaagatgaa	18	8	12	3	0	1	7	1	4	0	3	1	8	1	8	0	1	1	2	0	1	6	1			TCGA-EJ-5508-01A-02D-1576-08	TCGA-EJ-5508-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	275b578d-a786-4fdc-a995-5ab0505d68ee	1e2392d3-82f0-4f1e-b949-a0a634c87743	g.chrX:135593930T>G	ENST00000535601.1	+	10	2448	c.2026T>G	c.(2026-2028)Tca>Gca	p.S676A	HTATSF1_ENST00000218364.4_Missense_Mutation_p.S676A	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	676	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding	p.S676A(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					GTTTGAAGAGTCAGATGACAA	0.403													6	66					0	0	0.248553	0	0	G	135593930	T	G	135593930	3	3	46	1	0	0	0	0	1	0	0	0	7477	1667	58	5	2060	5	HTATSF1	23	135593930	Missense_Mutation	SNP	T	TCGA-EJ-5508-01A-02D-1576-08	58653497	135593930	19676630	48	2400											
PALMD	54873	broad.mit.edu	37	chr1	100152323	100152323	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaaactaaagtcaattgagCggacaacagaagacattata	20	7	8	6	1	1	4	1	1	0	3	1	5	1	5	0	1	3	0	0	1	8	4			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr1:100152323C>T	ENST00000263174.4	+	4	718	c.343C>T	c.(343-345)Cgg>Tgg	p.R115W	PALMD_ENST00000605497.1_Missense_Mutation_p.R115W	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN	palmdelphin	115					regulation of cell shape	cytoplasm|membrane		p.R115W(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		GTCAATTGAGCGGACAACAGA	0.333													25	99					0	0	1	0	0	T	100152323	C	T	100152323	3	4	47	1	0	0	0	0	1	0	0	0	11458	759	27	1	357	1	PALMD	1	100152323	Missense_Mutation	SNP	C	TCGA-EJ-5509-01A-01D-1576-08		100152323	149098298	1	2401											
C1orf85	112770	broad.mit.edu	37	chr1	156263002	156263002	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacacccaggagcatcgaccTagagcaagcagagagagaga	16	2	12	11	1	0	4	0	0	0	4	1	8	0	5	2	1	3	3	2	1	2	1			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr1:156263002T>C	ENST00000362007.1	-	6	1082		c.e6-2		C1orf85_ENST00000472870.1_Intron	NM_001256604.1|NM_001256609.1|NM_144580.2	NP_001243533.1|NP_001243538.1|NP_653181.1	Q8WWB7	NCUG1_HUMAN	chromosome 1 open reading frame 85						positive regulation of transcription from RNA polymerase II promoter	cytosol|integral to membrane|lysosomal membrane|nucleus	ligand-dependent nuclear receptor activity|protein binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.?(1)		breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3)	14	Hepatocellular(266;0.158)					AGCATCGACCTAGAGCAAGCA	0.622													3	121					0	0	1	0	0	C	156263002	T	C	156263002	5	2	47	1	0	0	0	0	0	0	1	0	2076	1536	53	3	170	3	C1orf85	1	156263002	Splice_Site	SNP	T	TCGA-EJ-5509-01A-01D-1576-08	56110679	156263002	92987619	2	2402											
CD48	962	broad.mit.edu	37	chr1	160654892	160654892	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggtcgaaagtataaaaccagGttagttgtttgtagttctca	12	14	10	5	1	1	0	1	0	1	0	3	1	1	0	1	2	1	6	1	2	6	7			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr1:160654892G>T	ENST00000368045.3	-	2	209	c.170C>A	c.(169-171)aCc>aAc	p.T57N	CD48_ENST00000368046.3_Missense_Mutation_p.T57N			P09326	CD48_HUMAN	CD48 molecule	57	Ig-like C2-type 1.				blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding	p.T57N(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ATAAAACCAGGTTAGTTGTTT	0.438													4	112					0.00909568	0.00995376	1	1	0	T	160654892	G	T	160654892	3	4	47	1	0	0	0	0	1	0	0	0	3042	1261	44	4	573	4	CD48	1	160654892	Missense_Mutation	SNP	G	TCGA-EJ-5509-01A-01D-1576-08	4391890	160654892	88595729	3	2403											
DHX9	1660	broad.mit.edu	37	chr1	182812496	182812496	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taaaaaagatgcacaaagcaAtgctgccagagactttgtta	17	9	8	7	0	0	2	0	0	0	2	0	3	0	2	1	0	4	4	1	0	6	3			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr1:182812496A>G	ENST00000367549.3	+	3	289	c.179A>G	c.(178-180)aAt>aGt	p.N60S		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	60	DRBM 1.|Interaction with CREBBP.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding	p.N60S(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						GCACAAAGCAATGCTGCCAGA	0.363													3	135					0	0	1	0	0	G	182812496	A	G	182812496	3	3	47	1	0	0	0	0	1	0	0	0	4544	101	4	3	185	3	DHX9	1	182812496	Missense_Mutation	SNP	A	TCGA-EJ-5509-01A-01D-1576-08	22157604	182812496	66438125	4	2404											
C1orf101	257044	broad.mit.edu	37	chr1	244716060	244716060	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaattgtaaatcttcctgatGgtggaattactggcatttca	11	15	9	6	0	2	1	1	1	1	0	3	3	3	2	1	3	1	2	1	3	5	5			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr1:244716060G>A	ENST00000366534.4	+	9	1027	c.973G>A	c.(973-975)Ggt>Agt	p.G325S	C1orf101_ENST00000366531.3_Missense_Mutation_p.G174S|C1orf101_ENST00000473875.1_Intron|C1orf101_ENST00000366533.4_Missense_Mutation_p.G325S	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	325						integral to membrane		p.G325S(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			TCTTCCTGATGGTGGAATTAC	0.284													4	155					0	0	1	0	0	A	244716060	G	A	244716060	3	1	47	1	0	0	0	0	1	0	0	0	1989	1348	47	2	1007	2	C1orf101	1	244716060	Missense_Mutation	SNP	G	TCGA-EJ-5509-01A-01D-1576-08	61903564	244716060	4534561	5	2405											
CNGA3	1261	broad.mit.edu	37	chr2	99012981	99012981	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgtgggccaacaagaagAcggtggatgagaaggaggtg	13	5	17	6	1	0	3	0	1	0	3	0	6	0	5	2	5	1	0	2	5	4	0			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr2:99012981A>G	ENST00000393504.1	+	8	1765	c.1348A>G	c.(1348-1350)Acg>Gcg	p.T450A	CNGA3_ENST00000272602.2_Missense_Mutation_p.T450A|CNGA3_ENST00000409937.1_Missense_Mutation_p.T454A|CNGA3_ENST00000436404.2_Missense_Mutation_p.T432A	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	450					signal transduction|visual perception	integral to membrane	cGMP binding	p.T450A(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						CAACAAGAAGACGGTGGATGA	0.537													17	37					0	0	1	0	0	G	99012981	A	G	99012981	3	3	47	1	0	0	0	0	1	0	0	0	3621	275	10	3	1374	3	CNGA3	2	99012981	Missense_Mutation	SNP	A	TCGA-EJ-5509-01A-01D-1576-08		99012981	144186392	6	2406											
C1QL2	165257	broad.mit.edu	37	chr2	119915187	119915187	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttcttgcagaggtccgccCacatgctggtgccgtcgccg	4	9	13	15	5	1	1	0	0	1	1	3	1	2	1	4	2	3	3	4	2	0	2			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr2:119915187C>G	ENST00000272520.3	-	1	1278	c.659G>C	c.(658-660)tGg>tCg	p.W220S		NM_182528.3	NP_872334.2	Q7Z5L3	C1QL2_HUMAN	complement component 1, q subcomponent-like 2	220	C1q.					collagen		p.W220S(1)		NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1)	7						GAGGTCCGCCCACATGCTGGT	0.647										HNSCC(49;0.14)			6	37					0	0	1	0	0	G	119915187	C	G	119915187	3	3	47	1	0	0	0	0	1	0	0	0	1972	595	21	4	212	4	C1QL2	2	119915187	Missense_Mutation	SNP	C	TCGA-EJ-5509-01A-01D-1576-08	20902206	119915187	123284186	7	2407											
ERCC3	2071	broad.mit.edu	37	chr2	128050211	128050211	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taaactgcataattccatcaGggactccagtcttgctgagc	11	11	8	11	0	2	1	1	1	1	0	4	2	4	2	2	1	4	2	2	1	3	4			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr2:128050211G>A	ENST00000493187.2	-	3	717	c.254C>T	c.(253-255)cCt>cTt	p.P85L	ERCC3_ENST00000285398.2_Missense_Mutation_p.P149L			P19447	ERCC3_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 3	149					cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding	p.P149L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		AATTCCATCAGGGACTCCAGT	0.483			"Mis, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				5	117					0	0	1	0	0	A	128050211	G	A	128050211	3	1	47	1	0	0	0	0	1	0	0	0	5242	1000	35	2	1954	2	ERCC3	2	128050211	Missense_Mutation	SNP	G	TCGA-EJ-5509-01A-01D-1576-08	8135024	128050211	115149162	8	2408											
TTN	7273	broad.mit.edu	37	chr2	179506008	179506008	+	Frame_Shift_Del	DEL	T	T	-																															tctagttttttaggttctacTttaggttcttcttcttcagg																										TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr2:179506008delT	ENST00000589042.1	-	220	40817	c.40593delA	c.(40591-40593)aafs	p.K13531fs	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Del_p.K4466fs|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Del_p.K4591fs|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Del_p.K11890fs|TTN-AS1_ENST00000418062.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Del_p.K10963fs|TTN_ENST00000342175.6_Frame_Shift_Del_p.K4658fs	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11890	Ig-like 91.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGGTTCTACTTTAGGTTCTT	0.289													2	4	---	---	---	---						-	179506008	T	-	179506008	7	5	47	1	0	1	0	1	0	0	0	0	16797	1606	56	0	67672	0	TTN	2	179506008	Frame_Shift_Del	DEL	T	TCGA-EJ-5509-01A-01D-1576-08	51455797	179506008	63693365	9	2409											
FAM171B	165215	broad.mit.edu	37	chr2	187627272	187627272	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagcatgcatcagcccaagAtcctttacttagaagattta	15	11	6	9	0	1	3	1	0	0	3	2	3	2	3	2	0	4	2	2	0	6	5			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr2:187627272A>T	ENST00000304698.5	+	8	2406	c.2203A>T	c.(2203-2205)Atc>Ttc	p.I735F		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	735						integral to membrane	DNA binding	p.I735F(1)		NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TCAGCCCAAGATCCTTTACTT	0.488													25	63					0	0	1	0	0	T	187627272	A	T	187627272	3	4	47	1	0	0	0	0	1	0	0	0	5521	333	12	5	2233	5	FAM171B	2	187627272	Missense_Mutation	SNP	A	TCGA-EJ-5509-01A-01D-1576-08	8121264	187627272	55572101	10	2410											
COL3A1	1281	broad.mit.edu	37	chr2	189875581	189875581	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaggctgaaggaaatagcAaattcacctacacagttctg	15	9	8	9	0	3	1	2	1	1	0	3	2	3	2	1	2	2	3	1	2	6	4			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr2:189875581A>T	ENST00000304636.3	+	50	4389	c.4219A>T	c.(4219-4221)Aaa>Taa	p.K1407*	COL3A1_ENST00000317840.5_Nonsense_Mutation_p.K1104*	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1407	Fibrillar collagen NC1.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.K1407*(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	AGGAAATAGCAAATTCACCTA	0.398													5	115					0	0	1	0	0	T	189875581	A	T	189875581	4	4	47	1	0	0	0	0	0	1	0	0	3711	131	5	5	4417	5	COL3A1	2	189875581	Nonsense_Mutation	SNP	A	TCGA-EJ-5509-01A-01D-1576-08	2248309	189875581	53323792	11	2411											
SPAG16	79582	broad.mit.edu	37	chr2	214878685	214878685	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctttatagtgaaagatgcAgatgtactttgtatggacat	12	15	9	5	0	1	3	0	1	1	2	1	4	1	4	0	1	2	3	0	1	5	6			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr2:214878685A>G	ENST00000331683.5	+	13	1506	c.1411A>G	c.(1411-1413)Aga>Gga	p.R471G	SPAG16_ENST00000374309.3_Missense_Mutation_p.R377G	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	471					cilium assembly	cilium axoneme|flagellar axoneme		p.R471G(2)		endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TGAAAGATGCAGATGTACTTT	0.343													4	245					0	0	1	0	0	G	214878685	A	G	214878685	3	3	47	1	0	0	0	0	1	0	0	0	15034	180	7	3	1477	3	SPAG16	2	214878685	Missense_Mutation	SNP	A	TCGA-EJ-5509-01A-01D-1576-08	25003104	214878685	28320688	12	2412											
FBXL2	25827	broad.mit.edu	37	chr3	33400492	33400492	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttggatatagtaactttgtgCcgatgtgcacagatttccaa	11	14	9	7	1	0	1	0	0	0	1	1	3	1	2	2	1	3	2	2	1	4	6			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr3:33400492C>T	ENST00000484457.1	+	3	190	c.99C>T	c.(97-99)tgC>tgT	p.C33C	FBXL2_ENST00000542085.1_5'UTR|FBXL2_ENST00000538892.1_Silent_p.C33C|FBXL2_ENST00000446237.3_5'UTR|FBXL2_ENST00000538181.1_Intron|FBXL2_ENST00000507198.1_Silent_p.C33C|FBXL2_ENST00000283627.6_Intron	NM_012157.3	NP_036289.3	Q9UKC9	FBXL2_HUMAN	F-box and leucine-rich repeat protein 2	33	F-box.				interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity	p.C33C(2)		endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						TAACTTTGTGCCGATGTGCAC	0.289													3	53					0	0	1	0	0	T	33400492	C	T	33400492	2	4	47	1	0	0	0	0	0	0	0	1	5749	747	26	2		2	FBXL2	3	33400492	Silent	SNP	C	TCGA-EJ-5509-01A-01D-1576-08		33400492	164621938	13	2413											
GABRG1	2565	broad.mit.edu	37	chr4	46067560	46067560	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctattgaattttaaacgactGtcaaaccaggtttgggcaaa	14	12	8	7	1	1	1	1	1	0	0	1	2	1	1	1	2	2	2	1	2	6	5			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr4:46067560G>T	ENST00000295452.4	-	4	530	c.363C>A	c.(361-363)gaC>gaA	p.D121E		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	121					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.D121E(1)|p.D121D(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TTAAACGACTGTCAAACCAGG	0.294													14	62					1.5842e-08	1.91424e-08	1	1	0	T	46067560	G	T	46067560	3	4	47	1	0	0	0	0	1	0	0	0	6206	1368	48	4	1058	4	GABRG1	4	46067560	Missense_Mutation	SNP	G	TCGA-EJ-5509-01A-01D-1576-08		46067560	145086716	14	2414											
ANKRD17	26057	broad.mit.edu	37	chr4	74005375	74005375	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttggcccagtactggctgTccaactatcactccttgcag	7	11	9	14	0	1	0	1	0	0	0	3	0	3	0	3	2	3	4	3	2	3	4			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr4:74005375T>G	ENST00000358602.4	-	15	3074	c.2958A>C	c.(2956-2958)ggA>ggC	p.G986G	ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000509867.2_Silent_p.G873G|ANKRD17_ENST00000330838.6_Intron	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	986	Gln-rich.				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	p.G986G(2)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GTACTGGCTGTCCAACTATCA	0.562													5	32					0	0	1	0	0	G	74005375	T	G	74005375	2	3	47	1	0	0	0	0	0	0	0	1	642	1654	58	5		5	ANKRD17	4	74005375	Silent	SNP	T	TCGA-EJ-5509-01A-01D-1576-08	27937815	74005375	117148901	15	2415											
FHDC1	85462	broad.mit.edu	37	chr4	153881743	153881743	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagttaaaagcgtttagtggCgacgtgtcgaagctgtctct	10	12	12	7	4	1	0	0	0	1	0	3	2	1	0	0	1	2	3	0	1	5	3			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr4:153881743C>T	ENST00000511601.1	+	5	878	c.690C>T	c.(688-690)ggC>ggT	p.G230G	FHDC1_ENST00000260008.3_Silent_p.G230G			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	230	FH2.				actin cytoskeleton organization		actin binding	p.G230G(1)	ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					CGTTTAGTGGCGACGTGTCGA	0.373													19	126					0	0	1	0	0	T	153881743	C	T	153881743	2	4	47	1	0	0	0	0	0	0	0	1	5909	755	27	1		1	FHDC1	4	153881743	Silent	SNP	C	TCGA-EJ-5509-01A-01D-1576-08	79876368	153881743	37272533	16	2416											
HIST1H2BO	8348	broad.mit.edu	37	chr6	27861558	27861558	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcctgctgctgcccggggaGctggccaagcacgccgtgtc	4	6	15	16	4	0	0	0	0	0	0	1	1	0	1	4	3	5	4	4	3	1	0			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr6:27861558G>A	ENST00000303806.4	+	1	356	c.318G>A	c.(316-318)gaG>gaA	p.E106E		NM_003527.4	NP_003518.2	P23527	H2B1O_HUMAN	histone cluster 1, H2bo	106					nucleosome assembly	nucleosome|nucleus	DNA binding	p.E106E(1)									TGCCCGGGGAGCTGGCCAAGC	0.637													5	64					0	0	1	0	0	A	27861558	G	A	27861558	2	1	47	1	0	0	0	0	0	0	0	1	7195	962	34	2		2	HIST1H2BO	6	27861558	Silent	SNP	G	TCGA-EJ-5509-01A-01D-1576-08		27861558	143253509	17	2417											
MUC17	140453	broad.mit.edu	37	chr7	100693835	100693835	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caccagaatacaagacagtaTtggacaatgccaccgaagta	17	6	8	10	1	0	2	0	0	0	2	0	4	0	3	3	1	2	2	3	1	7	4			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr7:100693835T>C	ENST00000306151.4	+	7	12857	c.12793T>C	c.(12793-12795)Ttg>Ctg	p.L4265L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4265	SEA.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.L4265L(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAAGACAGTATTGGACAATGC	0.463													8	90					0	0	1	0	0	C	100693835	T	C	100693835	2	2	47	1	0	0	0	0	0	0	0	1	10022	1490	52	3		3	MUC17	7	100693835	Silent	SNP	T	TCGA-EJ-5509-01A-01D-1576-08		100693835	58444828	18	2418											
LAMB1	3912	broad.mit.edu	37	chr7	107575964	107575964	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttgaactgggattctcgctCcatcatcacgtcttctactc	7	14	6	14	2	5	1	2	1	3	0	8	2	6	2	1	1	2	1	1	1	2	4			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr7:107575964C>T	ENST00000393561.1	-	25	4340	c.4156G>A	c.(4156-4158)Gag>Aag	p.E1386K	LAMB1_ENST00000222399.6_Missense_Mutation_p.E1362K|LAMB1_ENST00000474380.1_5'UTR			P07942	LAMB1_HUMAN	laminin, beta 1	1362	Domain II.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	p.E1362K(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GATTCTCGCTCCATCATCACG	0.542													145	302					0	0	1	0	0	T	107575964	C	T	107575964	3	4	47	1	0	0	0	0	1	0	0	0	8649	864	30	2	1308	2	LAMB1	7	107575964	Missense_Mutation	SNP	C	TCGA-EJ-5509-01A-01D-1576-08	6882129	107575964	51562699	19	2419											
PLXNA4	91584	broad.mit.edu	37	chr7	132193088	132193088	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caatcagcctgttctccttgTagtctatgaggagcatcttg	8	14	9	10	0	4	1	1	1	3	0	5	2	4	2	2	1	2	3	2	1	3	5			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr7:132193088T>C	ENST00000359827.3	-	2	1327	c.365A>G	c.(364-366)tAc>tGc	p.Y122C	PLXNA4_ENST00000321063.4_Missense_Mutation_p.Y122C|PLXNA4_ENST00000423507.2_Missense_Mutation_p.Y122C|PLXNA4_ENST00000378539.5_Missense_Mutation_p.Y122C			Q9HCM2	PLXA4_HUMAN	plexin A4	122	Sema.					integral to membrane|intracellular|plasma membrane		p.Y122C(3)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GTTCTCCTTGTAGTCTATGAG	0.552													4	95					0	0	1	0	0	C	132193088	T	C	132193088	3	2	47	1	0	0	0	0	1	0	0	0	12170	1638	57	3	5757	3	PLXNA4	7	132193088	Missense_Mutation	SNP	T	TCGA-EJ-5509-01A-01D-1576-08	24617124	132193088	26945575	20	2420											
TNKS	8658	broad.mit.edu	37	chr8	9564325	9564325	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttttttctcaattcagcatgGagcttgtgttaatgccatgg	8	17	9	7	0	2	0	2	0	1	0	3	1	2	1	1	2	3	3	1	2	2	6			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr8:9564325G>T	ENST00000310430.6	+	8	1300	c.1274G>T	c.(1273-1275)gGa>gTa	p.G425V	TNKS_ENST00000518027.1_3'UTR|TNKS_ENST00000520408.1_Missense_Mutation_p.G425V|TNKS_ENST00000518281.1_Missense_Mutation_p.G188V	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	425					mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	p.G425V(3)		NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		ATTCAGCATGGAGCTTGTGTT	0.373													4	146					0.00909568	0.00995376	1	1	0	T	9564325	G	T	9564325	3	4	47	1	0	0	0	0	1	0	0	0	16379	1174	41	4	1304	4	TNKS	8	9564325	Missense_Mutation	SNP	G	TCGA-EJ-5509-01A-01D-1576-08		9564325	136799697	21	2421											
PROSC	11212	broad.mit.edu	37	chr8	37623076	37623076	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atccagccccggctagtggcGgtcagcaaaaccaaacctgc	11	5	10	15	2	1	0	1	0	0	0	2	0	2	0	5	3	5	2	5	3	4	1			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr8:37623076G>A	ENST00000328195.3	+	2	199	c.132G>A	c.(130-132)gcG>gcA	p.A44A		NM_007198.3	NP_009129.1	O94903	PROSC_HUMAN	proline synthetase co-transcribed homolog (bacterial)	44							pyridoxal phosphate binding	p.A44A(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		L-Proline(DB00172)|Pyridoxal Phosphate(DB00114)	GGCTAGTGGCGGTCAGCAAAA	0.532													14	268					0	0	1	0	0	A	37623076	G	A	37623076	2	1	47	1	0	0	0	0	0	0	0	1	12611	1103	39	1		1	PROSC	8	37623076	Silent	SNP	G	TCGA-EJ-5509-01A-01D-1576-08	28058751	37623076	108740946	22	2422											
GOT1L1	137362	broad.mit.edu	37	chr8	37794557	37794557	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgttccccatcacaaggaCacagccatgtgggatctgct	11	9	9	12	0	2	0	1	0	1	0	3	2	3	2	3	2	2	2	3	2	2	1			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr8:37794557C>T	ENST00000307599.4	-	5	637	c.538G>A	c.(538-540)Gtc>Atc	p.V180I		NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	180					biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity	p.V180I(3)		central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			ATCACAAGGACACAGCCATGT	0.557													6	80					0	0	1	0	0	T	37794557	C	T	37794557	3	4	47	1	0	0	0	0	1	0	0	0	6619	478	17	2	592	2	GOT1L1	8	37794557	Missense_Mutation	SNP	C	TCGA-EJ-5509-01A-01D-1576-08	171481	37794557	108569465	23	2423											
UBQLN1	29979	broad.mit.edu	37	chr9	86293369	86293369	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggatcacctgctcttgtgcaGcactcagcattggttcctga	7	12	10	12	0	3	1	2	1	1	0	4	2	4	2	2	2	4	5	2	2	0	3			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr9:86293369G>A	ENST00000376395.4	-	5	1380	c.857C>T	c.(856-858)gCt>gTt	p.A286V	UBQLN1_ENST00000257468.7_Missense_Mutation_p.A286V	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	286					apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding	p.A286V(1)		breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						CTCTTGTGCAGCACTCAGCAT	0.458													5	385					0	0	1	0	0	A	86293369	G	A	86293369	3	1	47	1	0	0	0	0	1	0	0	0	16957	971	34	2	940	2	UBQLN1	9	86293369	Missense_Mutation	SNP	G	TCGA-EJ-5509-01A-01D-1576-08		86293369	54920062	24	2424											
DCDC1	341019	broad.mit.edu	37	chr11	31312310	31312310	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttcttcattctaatagaaaGaacaggcttggttttccgtc	10	16	7	8	1	3	2	1	0	2	2	5	2	4	2	1	2	1	2	1	2	4	8			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr11:31312310G>C	ENST00000597505.1	-	5	843	c.844C>G	c.(844-846)Ctt>Gtt	p.L282V	DCDC1_ENST00000452803.1_Missense_Mutation_p.L282V			P59894	DCDC1_HUMAN	doublecortin domain containing 1	282					intracellular signal transduction			p.L282V(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CTAATAGAAAGAACAGGCTTG	0.393													37	91					0	0	1	0	0	C	31312310	G	C	31312310	3	2	47	1	0	0	0	0	1	0	0	0	4307	942	33	4	232	4	DCDC1	11	31312310	Missense_Mutation	SNP	G	TCGA-EJ-5509-01A-01D-1576-08		31312310	103694206	25	2425											
MYBPC3	4607	broad.mit.edu	37	chr11	47360202	47360202	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccttggtggtctccacgCggacccggccctcggtctca	3	9	13	16	4	2	0	1	0	2	0	6	1	3	1	4	6	0	0	4	6	0	1			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr11:47360202C>T	ENST00000399249.2	-	22	2231	c.2177G>A	c.(2176-2178)cGc>cAc	p.R726H	MYBPC3_ENST00000256993.4_Missense_Mutation_p.R725H|MYBPC3_ENST00000545968.1_Missense_Mutation_p.R726H			Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	725	Ig-like C2-type 5.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding	p.R726H(2)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		GGTCTCCACGCGGACCCGGCC	0.642													10	26					0	0	1	0	0	T	47360202	C	T	47360202	3	4	47	1	0	0	0	0	1	0	0	0	10061	768	27	1	1695	1	MYBPC3	11	47360202	Missense_Mutation	SNP	C	TCGA-EJ-5509-01A-01D-1576-08	16047892	47360202	87646314	26	2426											
CCDC88B	283234	broad.mit.edu	37	chr11	64116832	64116832	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagctgtggtgcggggcaaGgagttgggggaccggctgga	8	6	21	6	2	0	0	0	0	0	0	0	3	0	3	1	8	2	4	1	8	2	1			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr11:64116832G>T	ENST00000356786.5	+	15	2690	c.2646G>T	c.(2644-2646)aaG>aaT	p.K882N	CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000359902.2_Missense_Mutation_p.K34N	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	882					microtubule cytoskeleton organization	cytoplasm	microtubule binding	p.K882N(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGCGGGGCAAGGAGTTGGGGG	0.627													3	18					0.115264	0.117286	1	1	0	T	64116832	G	T	64116832	3	4	47	1	0	0	0	0	1	0	0	0	2884	991	35	4	2704	4	CCDC88B	11	64116832	Missense_Mutation	SNP	G	TCGA-EJ-5509-01A-01D-1576-08	16756630	64116832	70889684	27	2427											
NLRX1	79671	broad.mit.edu	37	chr11	119045200	119045200	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	actcggccctctgccattggCcgtatccccagcaagtacgt	7	9	9	16	3	1	0	0	0	1	0	3	0	2	0	5	2	3	3	5	2	3	3			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr11:119045200C>T	ENST00000409109.1	+	6	1475	c.888C>T	c.(886-888)ggC>ggT	p.G296G	NLRX1_ENST00000409991.1_Silent_p.G296G|NLRX1_ENST00000525863.1_Silent_p.G296G|NLRX1_ENST00000292199.2_Silent_p.G296G|NLRX1_ENST00000409265.4_Silent_p.G296G			Q86UT6	NLRX1_HUMAN	NLR family member X1	296	NACHT.|Required for interaction with MAVS.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding	p.G296G(2)		cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CTGCCATTGGCCGTATCCCCA	0.547													5	260					0	0	1	0	0	T	119045200	C	T	119045200	2	4	47	1	0	0	0	0	0	0	0	1	10532	726	26	2		2	NLRX1	11	119045200	Silent	SNP	C	TCGA-EJ-5509-01A-01D-1576-08	54928368	119045200	15961316	28	2428											
LARP4	113251	broad.mit.edu	37	chr12	50847266	50847267	+	Frame_Shift_Ins	INS	-	-	T																															ggataaaagccatcaatacaINSttttttgctaagaatggtta																										TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr12:50847266_50847267insT	ENST00000398473.2	+	9	940_941	c.828_829insT	c.(826-831)acttttfs	p.TF276fs	LARP4_ENST00000522085.1_Frame_Shift_Ins_p.TF276fs|LARP4_ENST00000518561.1_Frame_Shift_Ins_p.TF206fs|LARP4_ENST00000347328.5_Intron|LARP4_ENST00000293618.8_Frame_Shift_Ins_p.TF276fs|LARP4_ENST00000429001.3_Frame_Shift_Ins_p.TF282fs|LARP4_ENST00000518444.1_Frame_Shift_Ins_p.TF275fs	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	276	RRM.						nucleotide binding|RNA binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						CCATCAATACATTTTTTGCTAA	0.322													7	170	---	---	---	---						T	50847267	-	T	50847266	7	5	47	1	0	1	1	0	0	0	0	0	8669	204	8	0	862	0	LARP4	12	50847266	Frame_Shift_Ins	INS	-	TCGA-EJ-5509-01A-01D-1576-08		50847266	83004629	29	2429											
CYP27B1	1594	broad.mit.edu	37	chr12	58160784	58160784	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcgggcgcccagcggacgCgatggaacactctggaggcg	8	4	16	13	6	1	0	0	0	1	0	2	4	1	3	1	5	2	0	1	5	1	0			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr12:58160784C>T	ENST00000228606.4	-	1	250	c.41G>A	c.(40-42)cGc>cAc	p.R14H	RP11-571M6.13_ENST00000546609.1_RNA	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	14					bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding	p.R14H(1)		central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)	CCAGCGGACGCGATGGAACAC	0.627													7	190					0	0	1	0	0	T	58160784	C	T	58160784	3	4	47	1	0	0	0	0	1	0	0	0	4182	768	27	1	1521	1	CYP27B1	12	58160784	Missense_Mutation	SNP	C	TCGA-EJ-5509-01A-01D-1576-08	7313518	58160784	75691111	30	2430											
TMTC3	160418	broad.mit.edu	37	chr12	88568465	88568465	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acattccacagaaattgggaTtgggagtctgaatatacatt	14	12	9	6	0	1	2	0	1	1	1	2	4	2	4	1	2	1	0	1	2	4	6			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr12:88568465T>C	ENST00000266712.6	+	9	1501	c.1281T>C	c.(1279-1281)gaT>gaC	p.D427D		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	427						integral to membrane	binding	p.D427D(1)		NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						GAAATTGGGATTGGGAGTCTG	0.343													9	201					0	0	1	0	0	C	88568465	T	C	88568465	2	2	47	1	0	0	0	0	0	0	0	1	16322	1490	52	3		3	TMTC3	12	88568465	Silent	SNP	T	TCGA-EJ-5509-01A-01D-1576-08	30407681	88568465	45283430	31	2431											
FAM192A	80011	broad.mit.edu	37	chr16	57206263	57206263	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagttggtctcatcttcaTctaagcctcttaccatgttt	8	16	7	10	0	5	0	2	0	4	0	6	1	5	1	2	2	2	2	2	2	3	5			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr16:57206263T>C	ENST00000309137.8	-	4	506	c.248A>G	c.(247-249)gAt>gGt	p.D83G	FAM192A_ENST00000564108.1_Missense_Mutation_p.D83G|FAM192A_ENST00000566077.1_Missense_Mutation_p.D6G|FAM192A_ENST00000567439.1_Missense_Mutation_p.D83G|FAM192A_ENST00000389447.5_Missense_Mutation_p.D83G|FAM192A_ENST00000569266.1_Missense_Mutation_p.D83G	NM_024946.2	NP_079222.1	Q9GZU8	F192A_HUMAN	family with sequence similarity 192, member A	83						nucleus		p.D83G(1)		endometrium(2)|large_intestine(3)|lung(4)|prostate(2)	11						CTCATCTTCATCTAAGCCTCT	0.368													3	137					0	0	1	0	0	C	57206263	T	C	57206263	3	2	47	1	0	0	0	0	1	0	0	0	5555	1435	50	3	532	3	FAM192A	16	57206263	Missense_Mutation	SNP	T	TCGA-EJ-5509-01A-01D-1576-08		57206263	33148490	32	2432											
KARS	3735	broad.mit.edu	37	chr16	75669946	75669946	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaactccaattatgtctcccCgacgcagtttgttattaata	11	14	6	10	2	1	0	0	0	1	0	3	2	2	0	3	0	1	3	3	0	6	5			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr16:75669946C>A	ENST00000319410.5	-	6	738	c.617G>T	c.(616-618)cGg>cTg	p.R206L	KARS_ENST00000302445.3_Missense_Mutation_p.R178L|KARS_ENST00000568378.1_Intron	NM_001130089.1	NP_001123561.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase	178					interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding	p.R178L(1)		kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	TATGTCTCCCCGACGCAGTTT	0.373													3	62					0.115264	0.117286	1	1	0	A	75669946	C	A	75669946	3	1	47	1	0	0	0	0	1	0	0	0	8024	652	23	4	1300	4	KARS	16	75669946	Missense_Mutation	SNP	C	TCGA-EJ-5509-01A-01D-1576-08	18463683	75669946	14684807	33	2433											
SPOP	8405	broad.mit.edu	37	chr17	47696425	47696425	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctacggatgaatttcttgAatccccagtctttgccttgc	7	15	7	12	1	3	2	0	2	3	0	4	3	4	3	3	1	3	0	3	1	3	5			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr17:47696425A>C	ENST00000393331.3	-	7	868	c.398T>G	c.(397-399)tTc>tGc	p.F133C	SPOP_ENST00000393328.2_Missense_Mutation_p.F133C|SPOP_ENST00000503676.1_Missense_Mutation_p.F133C|SPOP_ENST00000347630.2_Missense_Mutation_p.F133C|SPOP_ENST00000504102.1_Missense_Mutation_p.F133C	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	133	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.F133C(3)|p.F133S(2)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						GAATTTCTTGAATCCCCAGTC	0.448										Prostate(2;0.17)			59	155					0	0	1	0	0	C	47696425	A	C	47696425	3	2	47	1	0	0	0	0	1	0	0	0	15140	246	9	5	750	5	SPOP	17	47696425	Missense_Mutation	SNP	A	TCGA-EJ-5509-01A-01D-1576-08		47696425	33498785	34	2434											
INTS2	57508	broad.mit.edu	37	chr17	59984779	59984779	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tattgaatacttgagtccagCgatccccatcaaagcacagt	13	10	7	11	1	1	2	1	2	0	0	3	3	3	2	3	0	3	1	3	0	4	4			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr17:59984779C>A	ENST00000444766.3	-	8	1270	c.1195G>T	c.(1195-1197)Gct>Tct	p.A399S	INTS2_ENST00000251334.6_Missense_Mutation_p.A391S	NM_020748.2	NP_065799.1	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	399					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding	p.A399S(2)		NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						TTGAGTCCAGCGATCCCCATC	0.413													2	6					0.0784	0.0842074	1	1	0	A	59984779	C	A	59984779	3	1	47	1	0	0	0	0	1	0	0	0	7822	768	27	4	2491	4	INTS2	17	59984779	Missense_Mutation	SNP	C	TCGA-EJ-5509-01A-01D-1576-08	12288354	59984779	21210431	35	2435											
SEPT9	10801	broad.mit.edu	37	chr17	75478262	75478262	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagctgcgttggcgacatggCcgacacccccagagatgccg	8	5	13	15	4	0	1	0	0	0	1	0	4	0	1	4	2	3	2	4	2	0	1			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr17:75478262C>T	ENST00000329047.8	+	3	1516	c.704C>T	c.(703-705)gCc>gTc	p.A235V	SEPT9_ENST00000431235.2_Missense_Mutation_p.A89V|SEPT9_ENST00000592481.1_3'UTR|SEPT9_ENST00000591088.1_Missense_Mutation_p.A2V|SEPT9_ENST00000590917.1_Missense_Mutation_p.A2V|SEPT9_ENST00000427180.1_Missense_Mutation_p.A141V|SEPT9_ENST00000423034.2_Missense_Mutation_p.A246V|SEPT9_ENST00000591198.1_Missense_Mutation_p.A234V|SEPT9_ENST00000590294.1_Missense_Mutation_p.A235V|SEPT9_ENST00000427674.2_Missense_Mutation_p.A89V|SEPT9_ENST00000585930.1_Missense_Mutation_p.A29V|SEPT9_ENST00000541152.2_Missense_Mutation_p.A2V|SEPT9_ENST00000449803.2_Missense_Mutation_p.A89V|SEPT9_ENST00000592420.1_Missense_Mutation_p.A62V|SEPT9_ENST00000592951.1_Missense_Mutation_p.A2V|SEPT9_ENST00000427177.1_Missense_Mutation_p.A253V|SEPT9_ENST00000588690.1_Missense_Mutation_p.A89V	NM_006640.4	NP_006631.2	Q9UHD8	SEPT9_HUMAN	septin 9	253					cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding	p.A235V(2)|p.A141V(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			GGCGACATGGCCGACACCCCC	0.652													3	13					0	0	1	0	0	T	75478262	C	T	75478262	3	4	47	1	0	0	0	0	1	0	0	0	14125	739	26	2	1246	2	SEPT9	17	75478262	Missense_Mutation	SNP	C	TCGA-EJ-5509-01A-01D-1576-08	15493483	75478262	5716948	36	2436											
COL5A3	50509	broad.mit.edu	37	chr19	10104082	10104082	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accatcctctcctgggggacCgggttgccccacatggccaa	7	7	11	16	1	1	0	0	0	1	0	3	1	2	1	7	4	1	1	7	4	1	1			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr19:10104082C>T	ENST00000264828.3	-	19	1808	c.1723G>A	c.(1723-1725)Ggt>Agt	p.G575S		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	575	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	p.G575S(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CCTGGGGGACCGGGTTGCCCC	0.567													6	256					0	0	1	0	0	T	10104082	C	T	10104082	3	4	47	1	0	0	0	0	1	0	0	0	3721	652	23	1	3710	1	COL5A3	19	10104082	Missense_Mutation	SNP	C	TCGA-EJ-5509-01A-01D-1576-08		10104082	49024901	37	2437											
ZNF831	128611	broad.mit.edu	37	chr20	57769548	57769548	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcttcccactcagggacGtcccggagccacagcacccg	7	7	10	17	3	2	0	1	0	1	0	4	2	4	2	4	2	2	1	4	2	0	2			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr20:57769548G>A	ENST00000371030.2	+	1	3474	c.3474G>A	c.(3472-3474)acG>acA	p.T1158T		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1158						intracellular	nucleic acid binding|zinc ion binding	p.T1158T(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					ACTCAGGGACGTCCCGGAGCC	0.672													30	78					0	0	1	0	0	A	57769548	G	A	57769548	2	1	47	1	0	0	0	0	0	0	0	1	18232	1132	40	1		1	ZNF831	20	57769548	Silent	SNP	G	TCGA-EJ-5509-01A-01D-1576-08		57769548	5255972	38	2438											
CRYAA	1409	broad.mit.edu	37	chr21	44589279	44589279	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctaccccagccggctgttcGaccagtttttcggcgagggc	5	10	12	14	4	1	0	0	0	1	0	3	2	1	0	4	3	2	3	4	3	1	4			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chr21:44589279G>A	ENST00000291554.2	+	1	162	c.70G>A	c.(70-72)Gac>Aac	p.D24N	CRYAA_ENST00000482775.1_3'UTR	NM_000394.2	NP_000385.1	P02489	CRYAA_HUMAN	crystallin, alpha A	24					anti-apoptosis|negative regulation of intracellular transport|protein homooligomerization|response to heat|visual perception	cytoplasm|nucleus	structural constituent of eye lens|unfolded protein binding	p.D24N(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						CCGGCTGTTCGACCAGTTTTT	0.617													32	117					0	0	1	0	0	A	44589279	G	A	44589279	3	1	47	1	0	0	0	0	1	0	0	0	3928	1058	37	1	72	1	CRYAA	21	44589279	Missense_Mutation	SNP	G	TCGA-EJ-5509-01A-01D-1576-08		44589279	3540616	39	2439											
KDM6A	7403	broad.mit.edu	37	chrX	44938412	44938412	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctgggacttttctctactaAaactttggtggaagctaaca	11	13	8	9	0	1	0	0	0	1	0	2	2	1	2	1	3	4	1	1	3	5	6			TCGA-EJ-5509-01A-01D-1576-08	TCGA-EJ-5509-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fb0dad4-c9d6-4c38-9d1e-ee258dc133cb	a6bcbcc8-3e2b-454f-933d-cf8a793858c6	g.chrX:44938412A>G	ENST00000377967.4	+	20	3001	c.2960A>G	c.(2959-2961)aAa>aGa	p.K987R	KDM6A_ENST00000382899.4_Missense_Mutation_p.K994R|KDM6A_ENST00000543216.1_Missense_Mutation_p.K908R|KDM6A_ENST00000536777.1_Missense_Mutation_p.K942R	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	987					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.K987R(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TTCTCTACTAAAACTTTGGTG	0.333			"D, N, F, S"		"renal, oesophageal SCC, MM"								4	59					0	0	1	0	0	G	44938412	A	G	44938412	3	3	47	1	0	0	0	0	1	0	0	0	8180	14	1	3	3038	3	KDM6A	23	44938412	Missense_Mutation	SNP	A	TCGA-EJ-5509-01A-01D-1576-08		44938412	110332148	40	2440											
LPHN2	23266	broad.mit.edu	37	chr1	82409004	82409004	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cataattaactatgccaactAccatgatacctcaccataca	16	10	2	13	0	1	1	1	1	0	0	1	1	1	1	4	0	6	0	4	0	7	6			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr1:82409004A>G	ENST00000370728.1	+	8	1394	c.749A>G	c.(748-750)tAc>tGc	p.Y250C	LPHN2_ENST00000394879.1_Missense_Mutation_p.Y250C|LPHN2_ENST00000319517.6_Missense_Mutation_p.Y250C|LPHN2_ENST00000370725.1_Missense_Mutation_p.Y250C|LPHN2_ENST00000370717.2_Missense_Mutation_p.Y250C|LPHN2_ENST00000359929.3_Missense_Mutation_p.Y250C|LPHN2_ENST00000370715.1_Missense_Mutation_p.Y250C|LPHN2_ENST00000335786.5_Missense_Mutation_p.Y250C|LPHN2_ENST00000370727.1_Missense_Mutation_p.Y250C|LPHN2_ENST00000370713.1_Missense_Mutation_p.Y250C|LPHN2_ENST00000271029.4_Missense_Mutation_p.Y250C|LPHN2_ENST00000370723.1_Missense_Mutation_p.Y250C|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370721.1_Missense_Mutation_p.Y254C|LPHN2_ENST00000370730.1_Missense_Mutation_p.Y250C			O95490	LPHN2_HUMAN	latrophilin 2	250	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.Y250C(2)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TATGCCAACTACCATGATACC	0.403													30	130					0	0	1	0	0	G	82409004	A	G	82409004	3	3	48	1	0	0	0	0	1	0	0	0	8961	391	14	3	763	3	LPHN2	1	82409004	Missense_Mutation	SNP	A	TCGA-EJ-5510-01A-01D-1576-08		82409004	166841617	1	2441											
NEK7	140609	broad.mit.edu	37	chr1	198233329	198233329	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaactaaacatagttttggaActagcagatgctggcgacct	13	10	10	8	1	0	1	0	0	0	1	0	4	0	2	1	2	5	3	1	2	6	5			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr1:198233329A>G	ENST00000367385.4	+	5	678	c.336A>G	c.(334-336)gaA>gaG	p.E112E	NEK7_ENST00000538004.1_Silent_p.E112E	NM_133494.2	NP_598001.1	Q8TDX7	NEK7_HUMAN	NIMA-related kinase 7	112	Protein kinase.					cytoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.E112E(1)		endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						TAGTTTTGGAACTAGCAGATG	0.299													25	201					0	0	1	0	0	G	198233329	A	G	198233329	2	3	48	1	0	0	0	0	0	0	0	1	10376	40	2	3		3	NEK7	1	198233329	Silent	SNP	A	TCGA-EJ-5510-01A-01D-1576-08	115824325	198233329	51017292	2	2442											
MCM6	4175	broad.mit.edu	37	chr2	136610460	136610460	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgaatgcaaatctactatgCgcctggcaatggcataatct	12	12	8	9	1	2	1	0	1	2	0	2	1	2	1	1	2	3	3	1	2	6	4			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr2:136610460C>T	ENST00000264156.2	-	12	1712	c.1652G>A	c.(1651-1653)cGc>cAc	p.R551H	MCM6_ENST00000492091.1_Intron	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	551	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding	p.R551H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	ATCTACTATGCGCCTGGCAAT	0.368													23	112					0	0	1	0	0	T	136610460	C	T	136610460	3	4	48	1	0	0	0	0	1	0	0	0	9441	768	27	1	837	1	MCM6	2	136610460	Missense_Mutation	SNP	C	TCGA-EJ-5510-01A-01D-1576-08		136610460	106588913	3	2443											
ATXN7	6314	broad.mit.edu	37	chr3	63898514	63898514	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaatggcgacggtcggggaGcgcaggcctctgcccagtcc	6	5	16	14	4	1	0	0	0	1	0	3	2	2	1	3	5	2	2	3	5	1	0			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr3:63898514G>A	ENST00000398590.3	+	3	793	c.240G>A	c.(238-240)gaG>gaA	p.E80E	ATXN7_ENST00000295900.6_Silent_p.E80E|ATXN7_ENST00000487717.1_Silent_p.E80E|ATXN7_ENST00000538065.1_Silent_p.E80E	NM_001177387.1	NP_001170858.1	O15265	ATX7_HUMAN	ataxin 7	80					cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding	p.E80E(2)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		CGGTCGGGGAGCGCAGGCCTC	0.711													6	29					0	0	1	0	0	A	63898514	G	A	63898514	2	1	48	1	0	0	0	0	0	0	0	1	1213	962	34	2		2	ATXN7	3	63898514	Silent	SNP	G	TCGA-EJ-5510-01A-01D-1576-08		63898514	134123916	4	2444											
ADAMTS9	56999	broad.mit.edu	37	chr3	64554181	64554181	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgcagtaaacatttcgttGtttatgccctcgaccacaag	11	12	7	11	2	0	0	0	0	0	0	2	1	0	0	2	0	3	4	2	0	4	5			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr3:64554181G>A	ENST00000498707.1	-	29	4729	c.4387C>T	c.(4387-4389)Caa>Taa	p.Q1463*	ADAMTS9-AS1_ENST00000492209.1_RNA|ADAMTS9-AS1_ENST00000470447.1_RNA|ADAMTS9_ENST00000295903.4_Nonsense_Mutation_p.Q1435*|ADAMTS9-AS1_ENST00000474313.1_RNA|ADAMTS9-AS1_ENST00000594810.1_RNA|ADAMTS9-AS1_ENST00000493124.1_RNA	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1463	TSP type-1 11.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.Q1463*(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		ACATTTCGTTGTTTATGCCCT	0.428													32	153					0	0	1	0	0	A	64554181	G	A	64554181	4	1	48	1	0	0	0	0	0	1	0	0	272	1386	48	2	1464	2	ADAMTS9	3	64554181	Nonsense_Mutation	SNP	G	TCGA-EJ-5510-01A-01D-1576-08	655667	64554181	133468249	5	2445											
ANXA6	309	broad.mit.edu	37	chr5	150509002	150509002	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agagggacttctcatacttgGtccggaagatctcccgaatg	10	10	11	10	2	2	2	1	0	2	2	5	5	3	4	2	3	1	0	2	3	3	3			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr5:150509002G>T	ENST00000354546.5	-	12	1111	c.884C>A	c.(883-885)aCc>aAc	p.T295N	ANXA6_ENST00000521512.1_Missense_Mutation_p.T88N|ANXA6_ENST00000356496.5_Missense_Mutation_p.T295N|ANXA6_ENST00000377751.5_Intron|ANXA6_ENST00000523714.1_Missense_Mutation_p.T263N	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	295						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCATACTTGGTCCGGAAGAT	0.557													7	54					2.0095e-06	2.12433e-06	1	1	0	T	150509002	G	T	150509002	3	4	48	1	0	0	0	0	1	0	0	0	716	1261	44	4	1197	4	ANXA6	5	150509002	Missense_Mutation	SNP	G	TCGA-EJ-5510-01A-01D-1576-08		150509002	30406258	6	2446											
COL11A2	1302	broad.mit.edu	37	chr6	33138676	33138676	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctggggtccccgagctcCgggctccccatctgctccct	2	9	10	20	2	1	0	0	0	1	0	6	1	6	0	7	3	2	3	7	3	0	0			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr6:33138676C>T	ENST00000341947.2	-	46	3612	c.3385G>A	c.(3385-3387)Gga>Aga	p.G1129R	COL11A2_ENST00000395197.1_Missense_Mutation_p.G1069R|COL11A2_ENST00000357486.1_Missense_Mutation_p.G1108R|COL11A2_ENST00000361917.1_Missense_Mutation_p.G1022R|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374714.1_Missense_Mutation_p.G1103R|COL11A2_ENST00000374713.1_Missense_Mutation_p.G1082R|COL11A2_ENST00000374712.1_Missense_Mutation_p.G1048R|COL11A2_ENST00000374708.4_Missense_Mutation_p.G1043R	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1129	Triple-helical region.			EPGARGP -> GAGGLGT (in Ref. 6; AAA52034).	cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	p.G1129R(1)		biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CCCCGAGCTCCGGGCTCCCCA	0.577													8	141					0	0	1	0	0	T	33138676	C	T	33138676	3	4	48	1	0	0	0	0	1	0	0	0	3691	661	23	1	1909	1	COL11A2	6	33138676	Missense_Mutation	SNP	C	TCGA-EJ-5510-01A-01D-1576-08		33138676	137976391	7	2447											
WRN	7486	broad.mit.edu	37	chr8	30958414	30958414	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cactgtatttctgagtggggGcatgattttagggattcatt	8	16	12	5	0	2	2	1	2	1	0	2	3	2	3	0	3	0	2	0	3	2	6			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr8:30958414G>A	ENST00000298139.5	+	18	2280	c.2031G>A	c.(2029-2031)ggG>ggA	p.G677G		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	677	Helicase ATP-binding.				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTGAGTGGGGGCATGATTTTA	0.408			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				3	65					0	0	1	0	0	A	30958414	G	A	30958414	2	1	48	1	0	0	0	0	0	0	0	1	17462	1190	42	2		2	WRN	8	30958414	Silent	SNP	G	TCGA-EJ-5510-01A-01D-1576-08		30958414	115405608	8	2448											
FBXO18	84893	broad.mit.edu	37	chr10	5979235	5979235	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaggccctgctcttcctcGtcttctgaggacaaggcgca	7	10	11	13	2	3	2	0	2	3	0	5	3	4	3	2	3	1	2	2	3	1	2			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr10:5979235G>A	ENST00000379999.5	+	22	3381	c.3277G>A	c.(3277-3279)Gtc>Atc	p.V1093I	FBXO18_ENST00000362091.4_Missense_Mutation_p.V1042I|FBXO18_ENST00000397269.3_Missense_Mutation_p.V546I|RP11-536K7.3_ENST00000397264.3_RNA|FBXO18_ENST00000379994.1_3'UTR	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	1042					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	p.V1093I(2)		NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						GCTCTTCCTCGTCTTCTGAGG	0.657													3	22					0	0	1	0	0	A	5979235	G	A	5979235	3	1	48	1	0	0	0	0	1	0	0	0	5764	1145	40	1	3368	1	FBXO18	10	5979235	Missense_Mutation	SNP	G	TCGA-EJ-5510-01A-01D-1576-08		5979235	129555512	9	2449											
C10orf68	79741	broad.mit.edu	37	chr10	32856778	32856778	+	Translation_Start_Site	SNP	G	G	A																															aatcactggtttcagattcaGgtggacaaaggacaagtgat																										TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr10:32856778G>A	ENST00000375028.3	+	0	15				CCDC7_ENST00000277657.6_Missense_Mutation_p.G460S|CCDC7_ENST00000362006.5_Missense_Mutation_p.G460S|C10orf68_ENST00000572165.1_3'UTR|C10orf68_ENST00000375030.2_De_novo_Start_InFrame			Q9H943	CJ068_HUMAN	chromosome 10 open reading frame 68									p.G460S(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						TTCAGATTCAGGTGGACAAAG	0.328													9	89					0	0	1	0	0	A	32856778	G	A	32856778	1	1	48	1	0	0	0	0	0	0	0	0	1617	1000	35	2		2	C10orf68	10	32856778	Translation_Start_Site	SNP	G	TCGA-EJ-5510-01A-01D-1576-08	26877543	32856778	102677969	10	2450	13	2									
CCDC7	221016	broad.mit.edu	37	chr10	32856779	32856779	+	Missense_Mutation	SNP	G	G	T																															atcactggtttcagattcagGtggacaaaggacaagtgata																										TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr10:32856779G>T	ENST00000362006.5	+	16	1922	c.1379G>T	c.(1378-1380)gGt>gTt	p.G460V	CCDC7_ENST00000277657.6_Missense_Mutation_p.G460V|C10orf68_ENST00000572165.1_3'UTR|C10orf68_ENST00000375030.2_5'UTR|C10orf68_ENST00000375028.3_5'UTR	NM_145023.4	NP_659460.3	Q96M83	CCDC7_HUMAN	coiled-coil domain containing 7	460								p.G460V(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				TCAGATTCAGGTGGACAAAGG	0.328													9	89					4.36969e-10	4.75525e-10	1	1	0	T	32856779	G	T	32856779	3	4	48	1	0	0	0	0	1	0	0	0	2862	1261	44	4	1437	4	CCDC7	10	32856779	Missense_Mutation	SNP	G	TCGA-EJ-5510-01A-01D-1576-08	1	32856779	102677968	11	2451	13	2									
ADRA2A	150	broad.mit.edu	37	chr10	112838922	112838922	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgagaagcgcttcacgttcGtgctggccgtggtcatcgga	6	9	15	11	6	2	1	2	0	0	1	4	3	2	2	1	3	2	3	1	3	1	2			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr10:112838922G>T	ENST00000280155.2	+	1	2133	c.1168G>T	c.(1168-1170)Gtg>Ttg	p.V390L		NM_000681.3	NP_000672.3	P08913	ADA2A_HUMAN	adrenoceptor alpha 2A	375					actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing|Rho protein signal transduction	basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex	alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding	p.V375L(1)		breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392)	CTTCACGTTCGTGCTGGCCGT	0.697													20	51					9.95505e-16	1.15105e-15	1	1	0	T	112838922	G	T	112838922	3	4	48	1	0	0	0	0	1	0	0	0	336	1145	40	4	1170	4	ADRA2A	10	112838922	Missense_Mutation	SNP	G	TCGA-EJ-5510-01A-01D-1576-08	79982143	112838922	22695825	12	2452											
API5	8539	broad.mit.edu	37	chr11	43345105	43345105	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtggctgaacaggccgacctAgaacagaccttcaatccctc	11	7	9	14	1	1	3	1	1	0	2	3	4	2	3	4	2	2	1	4	2	4	2			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr11:43345105A>C	ENST00000378852.3	+	6	794	c.669A>C	c.(667-669)ctA>ctC	p.L223L	API5_ENST00000455725.2_Silent_p.L212L|API5_ENST00000534600.1_Silent_p.L223L|API5_ENST00000420461.2_Silent_p.L169L|API5_ENST00000534695.1_Intron|API5_ENST00000531273.1_Silent_p.L223L	NM_001142930.1|NM_006595.3	NP_001136402.1|NP_006586.1	Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5	223					anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding	p.L223L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						AGGCCGACCTAGAACAGACCT	0.463													34	158					0	0	1	0	0	C	43345105	A	C	43345105	2	2	48	1	0	0	0	0	0	0	0	1	769	407	15	5		5	API5	11	43345105	Silent	SNP	A	TCGA-EJ-5510-01A-01D-1576-08		43345105	91661411	13	2453											
SHANK2	22941	broad.mit.edu	37	chr11	70319095	70319095	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtgactgccatcgatctcaTtgtccatgaaggcctcttta	9	13	8	11	1	2	2	1	2	2	0	5	3	3	2	3	1	1	0	3	1	2	3			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr11:70319095T>C	ENST00000338508.4	-	33	5431	c.5432A>G	c.(5431-5433)aAt>aGt	p.N1811S	SHANK2_ENST00000423696.2_Missense_Mutation_p.N1431S|SHANK2_ENST00000409161.1_Missense_Mutation_p.N1214S|SHANK2_ENST00000449833.2_Missense_Mutation_p.N1215S			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1431					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	p.N1811S(1)|p.N1215S(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			ATCGATCTCATTGTCCATGAA	0.478													55	245					0	0	1	0	0	C	70319095	T	C	70319095	3	2	48	1	0	0	0	0	1	0	0	0	14320	1493	52	3	124	3	SHANK2	11	70319095	Missense_Mutation	SNP	T	TCGA-EJ-5510-01A-01D-1576-08	26973990	70319095	64687421	14	2454											
CARD16	114769	broad.mit.edu	37	chr11	104915235	104915235	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtcaatcaaagctcgggtcTtatccataactgtagcattt	12	13	7	9	1	3	0	2	0	1	0	5	0	4	0	1	1	3	3	1	1	5	4			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr11:104915235T>G	ENST00000375706.2	-	2	175	c.158A>C	c.(157-159)aAg>aCg	p.K53T	CARD16_ENST00000525374.1_Missense_Mutation_p.K53T|CARD16_ENST00000375704.3_Missense_Mutation_p.K53T|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000598974.1_Intron|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000593315.1_Intron	NM_001017534.1	NP_001017534.1			caspase recruitment domain family, member 16									p.K53T(1)		endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	11						AGCTCGGGTCTTATCCATAAC	0.428													96	447					0	0	1	0	0	G	104915235	T	G	104915235	3	3	48	1	0	0	0	0	1	0	0	0	2665	1609	56	5	467	5	CARD16	11	104915235	Missense_Mutation	SNP	T	TCGA-EJ-5510-01A-01D-1576-08	34596140	104915235	30091281	15	2455											
ADAMTS20	80070	broad.mit.edu	37	chr12	43777766	43777766	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgctgaactccagagccAcaggtcacagagcactacaa	13	6	8	14	0	2	3	1	1	1	2	3	3	3	3	2	1	5	2	2	1	3	1			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr12:43777766A>G	ENST00000389420.3	-	30	4466	c.4467T>C	c.(4465-4467)tgT>tgC	p.C1489C		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1489	TSP type-1 12.					proteinaceous extracellular matrix	zinc ion binding	p.C1489C(2)|p.S1489S(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CTCCAGAGCCACAGGTCACAG	0.413													4	56					0	0	1	0	0	G	43777766	A	G	43777766	2	3	48	1	0	0	0	0	0	0	0	1	265	157	6	3		3	ADAMTS20	12	43777766	Silent	SNP	A	TCGA-EJ-5510-01A-01D-1576-08		43777766	90074129	16	2456											
KRT78	196374	broad.mit.edu	37	chr12	53238473	53238473	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatggacagcaccacagacGtgtcgctggcctgggtctgg	7	7	14	13	2	1	1	0	0	1	1	2	2	1	2	3	4	1	2	3	4	0	0			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr12:53238473G>A	ENST00000359499.4	-	5	472	c.461C>T	c.(460-462)aCg>aTg	p.T154M	KRT78_ENST00000304620.4_Missense_Mutation_p.T264M			Q8N1N4	K2C78_HUMAN	keratin 78	264	Linker 1.|Rod.					keratin filament	protein binding|structural molecule activity	p.T264M(2)		endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CACCACAGACGTGTCGCTGGC	0.622													15	77					0	0	1	0	0	A	53238473	G	A	53238473	3	1	48	1	0	0	0	0	1	0	0	0	8534	1145	40	1	791	1	KRT78	12	53238473	Missense_Mutation	SNP	G	TCGA-EJ-5510-01A-01D-1576-08	9460707	53238473	80613422	17	2457											
PTPRB	0	broad.mit.edu	37	chr12	71003062	71003063	+	Frame_Shift_Ins	INS	-	-	G																															tggatagacacagaatggctINSggaggccttggactccgcca																										TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr12:71003062_71003063insG	ENST00000334414.6	-	4	809_810	c.765_766insC	c.(763-768)tcgccafs	p.P256fs	PTPRB_ENST00000261266.5_Frame_Shift_Ins_p.P38fs|PTPRB_ENST00000551525.1_Frame_Shift_Ins_p.P255fs|PTPRB_ENST00000550358.1_Frame_Shift_Ins_p.P256fs|PTPRB_ENST00000451516.2_Frame_Shift_Ins_p.P38fs|PTPRB_ENST00000550857.1_Frame_Shift_Ins_p.P38fs|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000538708.1_Frame_Shift_Ins_p.P38fs	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	38	Fibronectin type-III 3.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ACAGAATGGCTGGAGGCCTTGG	0.535													7	150	---	---	---	---						G	71003063	-	G	71003062	7	5	48	1	0	1	1	0	0	0	0	0	12848	1580	55	0	6005	0	PTPRB	12	71003062	Frame_Shift_Ins	INS	-	TCGA-EJ-5510-01A-01D-1576-08	17764589	71003062	62848833	18	2458											
CIT	11113	broad.mit.edu	37	chr12	120150460	120150460	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaatagatacatccccgtcGggaaggcacagctcaaattc	13	8	9	11	2	1	2	1	1	0	1	4	3	2	3	2	2	2	2	2	2	5	3			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr12:120150460G>T	ENST00000392521.2	-	36	4675	c.4620C>A	c.(4618-4620)ccC>ccA	p.P1540P	CIT_ENST00000261833.7_Silent_p.P1498P|CIT_ENST00000537607.1_5'UTR	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	1498	PH.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	p.P1526P(1)|p.P1498P(1)		breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CATCCCCGTCGGGAAGGCACA	0.547													4	113					1	1	1	1	0	T	120150460	G	T	120150460	2	4	48	1	0	0	0	0	0	0	0	1	3461	1103	39	4		4	CIT	12	120150460	Silent	SNP	G	TCGA-EJ-5510-01A-01D-1576-08	49147398	120150460	13701435	19	2459											
RPLP0	6175	broad.mit.edu	37	chr12	120635152	120635152	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagtgggaaggtgtaatcCgtctccacagacaaggccag	12	6	13	10	1	1	1	0	0	1	1	3	2	2	2	3	3	0	2	3	3	4	1			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr12:120635152C>T	ENST00000551150.1	-	6	1080	c.765G>A	c.(763-765)acG>acA	p.T255T	RPLP0_ENST00000546989.1_Silent_p.T219T|RPLP0_ENST00000313104.5_Silent_p.T193T|RPLP0_ENST00000392514.4_Silent_p.T255T|RPLP0_ENST00000552292.1_Silent_p.T45T|RPLP0_ENST00000228306.4_Silent_p.T255T			P05388	RLA0_HUMAN	ribosomal protein, large, P0	255					endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleus	protein binding|RNA binding|structural constituent of ribosome	p.T255T(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGGTGTAATCCGTCTCCACAG	0.507													17	79					0	0	1	0	0	T	120635152	C	T	120635152	2	4	48	1	0	0	0	0	0	0	0	1	13656	639	23	1		1	RPLP0	12	120635152	Silent	SNP	C	TCGA-EJ-5510-01A-01D-1576-08	484692	120635152	13216743	20	2460											
FREM2	341640	broad.mit.edu	37	chr13	39357242	39357242	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttccccagtccaaatactccGttgaagaagatgttggtgag	11	11	10	9	1	0	4	0	2	0	2	3	4	3	4	4	1	1	2	4	1	4	4			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr13:39357242G>A	ENST00000280481.7	+	5	5893	c.5677G>A	c.(5677-5679)Gtt>Att	p.V1893I		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1893	Calx-beta 2.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.V1893I(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CAAATACTCCGTTGAAGAAGA	0.438													58	205					0	0	1	0	0	A	39357242	G	A	39357242	3	1	48	1	0	0	0	0	1	0	0	0	6080	1145	40	1	5695	1	FREM2	13	39357242	Missense_Mutation	SNP	G	TCGA-EJ-5510-01A-01D-1576-08		39357242	75812636	21	2461											
TM9SF2	9375	broad.mit.edu	37	chr13	100206634	100206634	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctacacgaagcccttgcCtggtattatcatgggaggga	9	11	12	9	1	2	0	1	0	1	0	2	3	2	2	2	3	3	2	2	3	4	5			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr13:100206634C>T	ENST00000376387.4	+	14	1755	c.1565C>T	c.(1564-1566)cCt>cTt	p.P522L		NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	522					transport	endosome membrane|integral to plasma membrane		p.P522L(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					AAGCCCTTGCCTGGTATTATC	0.418													43	154					0	0	1	0	0	T	100206634	C	T	100206634	3	4	48	1	0	0	0	0	1	0	0	0	16038	681	24	2	1619	2	TM9SF2	13	100206634	Missense_Mutation	SNP	C	TCGA-EJ-5510-01A-01D-1576-08	60849392	100206634	14963244	22	2462											
MYO16	23026	broad.mit.edu	37	chr13	109779876	109779876	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgagcgcctgcctctccgcGgccagggaagcggccaacga	7	4	15	15	5	1	1	0	1	1	0	2	3	1	2	5	3	4	0	5	3	2	0			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr13:109779876G>A	ENST00000356711.2	+	31	4089	c.3963G>A	c.(3961-3963)gcG>gcA	p.A1321A	MYO16_ENST00000457511.2_Silent_p.A833A|MYO16_ENST00000357550.2_Silent_p.A1321A	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	1321					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	p.A1321A(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			GCCTCTCCGCGGCCAGGGAAG	0.687													3	23					0	0	1	0	0	A	109779876	G	A	109779876	2	1	48	1	0	0	0	0	0	0	0	1	10112	1103	39	1		1	MYO16	13	109779876	Silent	SNP	G	TCGA-EJ-5510-01A-01D-1576-08	9573242	109779876	5390002	23	2463											
GNPNAT1	0	broad.mit.edu	37	chr14	53245162	53245163	+	Frame_Shift_Del	DEL	AG	AG	-																															gtttcttgcttagcaaagtaAgggttgataataacctgaaa																										TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr14:53245162_53245163delAG	ENST00000216410.3	-	6	608_609	c.421_422delCT	c.(421-423)tfs	p.L141fs	GNPNAT1_ENST00000554230.1_Frame_Shift_Del_p.L70fs	NM_198066.3	NP_932332.1	Q96EK6	GNA1_HUMAN	glucosamine-phosphate N-acetyltransferase 1	141	N-acetyltransferase.				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|endosome membrane|Golgi membrane	glucosamine 6-phosphate N-acetyltransferase activity			liver(1)|lung(1)|prostate(1)|skin(1)	4	Breast(41;0.176)					TAGCAAAGTAAGGGTTGATAAT	0.292													24	130	---	---	---	---						-	53245163	AG	-	53245162	7	5	48	1	0	1	0	1	0	0	0	0	6586	72	3	0	136	0	GNPNAT1	14	53245162	Frame_Shift_Del	DEL	AG	TCGA-EJ-5510-01A-01D-1576-08		53245162	54104378	24	2464											
TEKT1	83659	broad.mit.edu	37	chr17	6716186	6716186	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagcttgtccctggcatcCtttgtatccttcagcccatt	5	14	7	15	0	1	0	1	0	0	0	4	0	4	0	5	1	2	3	5	1	1	5			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr17:6716186C>G	ENST00000338694.2	-	6	945	c.816G>C	c.(814-816)aaG>aaC	p.K272N	TEKT1_ENST00000535086.1_Missense_Mutation_p.K126N	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	272					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		p.K272N(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				CCCTGGCATCCTTTGTATCCT	0.527													32	158					0	0	1	0	0	G	6716186	C	G	6716186	3	3	48	1	0	0	0	0	1	0	0	0	15811	680	24	4	452	4	TEKT1	17	6716186	Missense_Mutation	SNP	C	TCGA-EJ-5510-01A-01D-1576-08		6716186	74479024	25	2465											
GSK3A	2931	broad.mit.edu	37	chr19	42736723	42736723	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccagacatcgcagttcatCaaagaagctgtgcgcacagg	12	7	10	12	2	2	2	2	0	0	2	4	2	3	2	1	1	2	4	1	1	2	1			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr19:42736723C>A	ENST00000398249.4	-	8	2677	c.964G>T	c.(964-966)Gat>Tat	p.D322Y	GSK3A_ENST00000222330.3_Missense_Mutation_p.D404Y			P49840	GSK3A_HUMAN	glycogen synthase kinase 3 alpha	404	Protein kinase.				insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of insulin receptor signaling pathway|negative regulation of transferase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process	beta-catenin destruction complex|cytosol	ATP binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|tau-protein kinase activity	p.D404Y(2)		endometrium(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	19		Prostate(69;0.00682)				CGCAGTTCATCAAAGAAGCTG	0.602													3	72					1	1	1	1	0	A	42736723	C	A	42736723	3	1	48	1	0	0	0	0	1	0	0	0	6864	826	29	4	253	4	GSK3A	19	42736723	Missense_Mutation	SNP	C	TCGA-EJ-5510-01A-01D-1576-08		42736723	16392260	26	2466											
DYRK1A	1859	broad.mit.edu	37	chr21	38858790	38858790	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtaaaggcatatgatcgtGtggagcaagaatgggttgcc	11	11	14	5	1	0	2	0	1	0	1	1	3	0	3	1	3	2	4	1	3	5	4			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chr21:38858790G>A	ENST00000339659.3	+	5	1981	c.511G>A	c.(511-513)Gtg>Atg	p.V171M	DYRK1A_ENST00000338785.3_Missense_Mutation_p.V180M|DYRK1A_ENST00000451934.1_Missense_Mutation_p.V180M|DYRK1A_ENST00000398956.2_Missense_Mutation_p.V180M|DYRK1A_ENST00000321219.8_Missense_Mutation_p.V180M|DYRK1A_ENST00000398960.2_Missense_Mutation_p.V180M	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	180	Protein kinase.				nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity	p.V180M(1)		breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						ATATGATCGTGTGGAGCAAGA	0.308													36	167					0	0	1	0	0	A	38858790	G	A	38858790	3	1	48	1	0	0	0	0	1	0	0	0	4880	1377	48	2	556	2	DYRK1A	21	38858790	Missense_Mutation	SNP	G	TCGA-EJ-5510-01A-01D-1576-08		38858790	9271105	27	2467											
FAM47C	442444	broad.mit.edu	37	chrX	37027785	37027785	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggagcctcccaagactcgCggatctcatctccgcccgga	7	7	10	17	4	2	1	1	0	2	1	6	4	3	4	4	3	1	0	4	3	1	0			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chrX:37027785C>T	ENST00000358047.3	+	1	1354	c.1302C>T	c.(1300-1302)cgC>cgT	p.R434R		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	434								p.R434R(2)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCAAGACTCGCGGATCTCATC	0.617													28	33					0	0	1	0	0	T	37027785	C	T	37027785	2	4	48	1	0	0	0	0	0	0	0	1	5607	755	27	1		1	FAM47C	23	37027785	Silent	SNP	C	TCGA-EJ-5510-01A-01D-1576-08		37027785	118242775	28	2468											
MED12	9968	broad.mit.edu	37	chrX	70349258	70349258	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggagccgtgtttgctgttCtcaaggctgtgtttgtactt	5	17	12	7	1	1	0	1	0	1	0	2	1	1	1	1	2	3	6	1	2	2	5			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chrX:70349258C>T	ENST00000333646.6	+	26	3869	c.3670C>T	c.(3670-3672)Ctc>Ttc	p.L1224F	MED12_ENST00000374102.1_Missense_Mutation_p.L1224F|MED12_ENST00000374080.3_Missense_Mutation_p.L1224F	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1224					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.L1224F(10)|p.V1223>?(2)|p.L1224V(2)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GTTTGCTGTTCTCAAGGCTGT	0.562			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome				OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	34					0	0	1	0	0	T	70349258	C	T	70349258	3	4	48	1	0	0	0	0	1	0	0	0	9478	913	32	2	3772	2	MED12	23	70349258	Missense_Mutation	SNP	C	TCGA-EJ-5510-01A-01D-1576-08	33321473	70349258	84921302	29	2469											
ZCCHC12	170261	broad.mit.edu	37	chrX	117959282	117959282	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgccttgggcccattccatGctgaggtccctggggagaag	6	8	14	13	1	0	2	0	1	0	1	2	3	2	2	5	4	1	1	5	4	1	2			TCGA-EJ-5510-01A-01D-1576-08	TCGA-EJ-5510-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c55ec8be-cd73-4275-8407-5814a1fc51d5	96d81c6a-b658-42f7-8102-6ff08f9ba464	g.chrX:117959282G>A	ENST00000310164.2	+	4	582	c.75G>A	c.(73-75)atG>atA	p.M25I		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	25					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding	p.M25I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						CCCATTCCATGCTGAGGTCCC	0.572													25	46					0	0	1	0	0	A	117959282	G	A	117959282	3	1	48	1	0	0	0	0	1	0	0	0	17640	1319	46	2	77	2	ZCCHC12	23	117959282	Missense_Mutation	SNP	G	TCGA-EJ-5510-01A-01D-1576-08	47610024	117959282	37311278	30	2470											
FGGY	55277	broad.mit.edu	37	chr1	59805628	59805629	+	Splice_Site	DEL	AG	AG	-																															tttttatttgtttttaaaacAgaaagttgtacaagggattg																										TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr1:59805628_59805629delAG	ENST00000371218.4	+	3	385		c.e3-1		FGGY_ENST00000474476.1_Intron|FGGY_ENST00000371212.1_Intron|FGGY_ENST00000303721.7_Splice_Site	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing						carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					TTTTTAAAACAGAAAGTTGTAC	0.342													9	37	---	---	---	---						-	59805629	AG	-	59805628	8	5	49	1	0	1	0	1	0	0	1	0	5904	202	7	0	206	0	FGGY	1	59805628	Splice_Site	DEL	AG	TCGA-EJ-5511-01A-01D-1576-08		59805628	189444993	1	2471											
GBP1	2633	broad.mit.edu	37	chr1	89523762	89523762	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtctgctacttgttgcaCaaattcggggtccagctctt	8	13	10	10	1	2	0	0	0	2	0	4	1	3	0	1	2	4	4	1	2	3	5			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr1:89523762C>T	ENST00000370473.4	-	6	1006	c.787G>A	c.(787-789)Gtg>Atg	p.V263M		NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	263					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	p.V263M(1)		endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		ACTTGTTGCACAAATTCGGGG	0.473													23	351					0	0	1	0	0	T	89523762	C	T	89523762	3	4	49	1	0	0	0	0	1	0	0	0	6313	478	17	2	1015	2	GBP1	1	89523762	Missense_Mutation	SNP	C	TCGA-EJ-5511-01A-01D-1576-08	29718134	89523762	159726859	2	2472											
HFM1	164045	broad.mit.edu	37	chr1	91846539	91846539	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaatacttctaaattttgccGcttacaataacattaaggag	16	13	5	7	1	1	0	0	0	1	0	1	1	1	1	1	1	4	1	1	1	8	8	rs146051438		TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr1:91846539G>A	ENST00000370425.3	-	7	901	c.802_splice	c.e7-1	p.P268_splice	HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Intron	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	268							ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.P268L(2)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		AAATTTTGCCGCTTACAATAA	0.214													14	108					0	0	1	0	0	A	91846539	G	A	91846539	5	1	49	1	0	0	0	0	0	0	1	0	7124	1101	38	1	3636	1	HFM1	1	91846539	Splice_Site	SNP	G	TCGA-EJ-5511-01A-01D-1576-08	2322777	91846539	157404082	3	2473											
KCND3	3752	broad.mit.edu	37	chr1	112524316	112524316	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaacttgctggccgaggagcCcttctcggcataaaacatca	11	8	10	12	2	2	0	1	0	1	0	3	3	2	1	2	3	4	2	2	3	3	3			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr1:112524316C>T	ENST00000369697.1	-	1	1102	c.1033G>A	c.(1033-1035)Ggc>Agc	p.G345S	KCND3_ENST00000315987.2_Missense_Mutation_p.G345S|KCND3_ENST00000302127.4_Missense_Mutation_p.G345S			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	345						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding	p.G345S(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		GCCGAGGAGCCCTTCTCGGCA	0.527													35	39					0	0	1	0	0	T	112524316	C	T	112524316	3	4	49	1	0	0	0	0	1	0	0	0	8064	623	22	2	962	2	KCND3	1	112524316	Missense_Mutation	SNP	C	TCGA-EJ-5511-01A-01D-1576-08	20677777	112524316	136726305	4	2474											
PDE4DIP	9659	broad.mit.edu	37	chr1	145015938	145015938	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaggaatatgtctgcacaaaCgggaccttttcaccacttct	12	11	7	11	1	3	0	1	0	2	0	3	2	3	2	2	2	2	1	2	2	4	4	rs144857876	byFrequency	TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr1:145015938C>T	ENST00000369359.4	-	3	401	c.363G>A	c.(361-363)ccG>ccA	p.P121P	PDE4DIP_ENST00000369348.3_Silent_p.P121P|PDE4DIP_ENST00000493130.2_Silent_p.P50P|PDE4DIP_ENST00000313382.9_Silent_p.P50P|PDE4DIP_ENST00000530740.1_Silent_p.P121P|PDE4DIP_ENST00000478649.2_Silent_p.P50P			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	p.P121P(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCTGCACAAACGGGACCTTTT	0.443			T	PDGFRB	MPD								73	518					0	0	1	0	0	T	145015938	C	T	145015938	2	4	49	1	0	0	0	0	0	0	0	1	11690	523	19	1		1	PDE4DIP	1	145015938	Silent	SNP	C	TCGA-EJ-5511-01A-01D-1576-08	32491622	145015938	104234683	5	2475											
KCNH1	3756	broad.mit.edu	37	chr1	210977309	210977309	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctcctcatcctccttacCttctctgtgtcaatgcctct	5	15	5	16	0	4	0	2	0	2	0	8	1	7	0	5	0	3	1	5	0	2	2			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr1:210977309C>A	ENST00000367007.4	-	8	1750	c.1581_splice	c.e8+1	p.K527_splice	KCNH1_ENST00000271751.4_Splice_Site_p.K554_splice	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	554					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	p.K554N(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TCCTCCTTACCTTCTCTGTGT	0.488													68	113					5.22007e-41	6.1933e-41	1	1	0	A	210977309	C	A	210977309	5	1	49	1	0	0	0	0	0	0	1	0	8075	695	24	4	1323	4	KCNH1	1	210977309	Splice_Site	SNP	C	TCGA-EJ-5511-01A-01D-1576-08	65961371	210977309	38273312	6	2476											
ARID4B	51742	broad.mit.edu	37	chr1	235345290	235345317	+	Frame_Shift_Del	DEL	CACTGGGTGAACAACTCTCCTCTTCAGC	CACTGGGTGAACAACTCTCCTCTTCAGC	-																															aggtggtttttctagttctaCactgggtgaacaactctcct																								rs148934238	byFrequency	TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr1:235345290_235345317delCACTGGGTGAACAACTCTCCTCTTCAGC	ENST00000264183.3	-	20	3414_3441	c.2917_2944delGCTGAAGAGGAGAGTTGTTCACCCAGTG	c.(2917-2946)tafs	p.AEEESCSPSV973fs	ARID4B_ENST00000366603.2_Frame_Shift_Del_p.AEEESCSPSV973fs|ARID4B_ENST00000349213.3_Frame_Shift_Del_p.AEEESCSPSV887fs	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	973					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	p.V982L(1)		NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TCTAGTTCTACACTGGGTGAACAACTCTCCTCTTCAGCCACAGTCTGC	0.487													21	202	---	---	---	---						-	235345317	CACTGGGTGAACAACTCTCCTCTTCAGC	-	235345290	7	5	49	1	0	1	0	1	0	0	0	0	917	478	17	0	1014	0	ARID4B	1	235345290	Frame_Shift_Del	DEL	CACTGGGTGAACAACTCTCCTCTTCAGC	TCGA-EJ-5511-01A-01D-1576-08	24367981	235345290	13905331	7	2477											
TTN	7273	broad.mit.edu	37	chr2	179425049	179425050	+	Frame_Shift_Ins	INS	-	-	T																															actcttagatcataaactggINSttttttgtttacacgcaccc																										TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr2:179425049_179425050insT	ENST00000589042.1	-	326	86033_86034	c.85809_85810insA	c.(85807-85812)aacagtfs	p.NS28603fs	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Ins_p.NS19538fs|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Ins_p.NS26962fs|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Ins_p.NS26035fs|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Ins_p.NS19730fs|TTN_ENST00000359218.5_Frame_Shift_Ins_p.NS19663fs|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26962	Fibronectin type-III 108.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCATAAACTGGTTTTTTGTTTA	0.406													15	98	---	---	---	---						T	179425050	-	T	179425049	7	5	49	1	0	1	1	0	0	0	0	0	16797	1261	44	0	22317	0	TTN	2	179425049	Frame_Shift_Ins	INS	-	TCGA-EJ-5511-01A-01D-1576-08		179425049	63774324	8	2478											
DGKD	8527	broad.mit.edu	37	chr2	234296911	234296912	+	Frame_Shift_Ins	INS	-	-	A																															tgtactttcagaccatcatcINSaaagaggggatgctgaccaa																										TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr2:234296911_234296912insA	ENST00000264057.2	+	2	177_178	c.165_166insA	c.(163-168)ataagafs	p.R56fs	DGKD_ENST00000489613.1_3'UTR|DGKD_ENST00000409813.3_Frame_Shift_Ins_p.R12fs|AC019221.4_ENST00000442524.1_RNA	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	56	PH.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	AGACCATCATCAAAGAGGGGAT	0.441													15	159	---	---	---	---						A	234296912	-	A	234296911	7	5	49	1	0	1	1	0	0	0	0	0	4495	816	29	0	195	0	DGKD	2	234296911	Frame_Shift_Ins	INS	-	TCGA-EJ-5511-01A-01D-1576-08	54871862	234296911	8902462	9	2479											
SLC25A20	788	broad.mit.edu	37	chr3	48896044	48896044	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagcacatctctgaaaccatTaggatatttcccaggaggtg	12	10	9	10	0	1	1	0	1	1	0	3	3	2	3	2	3	2	1	2	3	3	3			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr3:48896044T>G	ENST00000319017.4	-	8	937	c.739A>C	c.(739-741)Aat>Cat	p.N247H	SLC25A20_ENST00000544097.1_Missense_Mutation_p.N197H|SLC25A20_ENST00000430379.1_Missense_Mutation_p.N174H	NM_000387.5	NP_000378.1	O43772	MCAT_HUMAN	solute carrier family 25 (carnitine/acylcarnitine translocase), member 20	247					carnitine shuttle|cellular lipid metabolic process|regulation of fatty acid oxidation	integral to membrane|mitochondrial inner membrane	acyl carnitine transporter activity	p.N247H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000168)|Kidney(197;0.00231)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	L-Carnitine(DB00583)	CTGAAACCATTAGGATATTTC	0.493													82	126					0	0	1	0	0	G	48896044	T	G	48896044	3	3	49	1	0	0	0	0	1	0	0	0	14538	1754	61	5	174	5	SLC25A20	3	48896044	Missense_Mutation	SNP	T	TCGA-EJ-5511-01A-01D-1576-08		48896044	149126386	10	2480											
ABHD10	55347	broad.mit.edu	37	chr3	111705862	111705863	+	Frame_Shift_Ins	INS	-	-	ACCTTAG																															gtgtagctacagctgcagatINSaccttagtgacaaagtttaa																										TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr3:111705862_111705863insACCTTAG	ENST00000273359.3	+	4	567_568	c.540_541insACCTTAG	c.(538-543)gaccttfs	p.DL180fs	ABHD10_ENST00000494817.1_Frame_Shift_Ins_p.DL180fs|ABHD10_ENST00000534857.1_Frame_Shift_Ins_p.DL23fs	NM_018394.2	NP_060864.1	Q9NUJ1	ABHDA_HUMAN	abhydrolase domain containing 10	180						mitochondrion	serine-type peptidase activity			large_intestine(2)|lung(7)|skin(1)	10						CAGCTGCAGATACCTTAGTGAC	0.441													12	134	---	---	---	---						ACCTTAG	111705863	-	ACCTTAG	111705862	7	5	49	1	0	1	1	0	0	0	0	0	74	1403	49	0	554	0	ABHD10	3	111705862	Frame_Shift_Ins	INS	-	TCGA-EJ-5511-01A-01D-1576-08	62809818	111705862	86316568	11	2481											
STXBP5L	9515	broad.mit.edu	37	chr3	121137219	121137219	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaaaagcatcccgcagcCttgcgcaacacattcctgga	12	6	9	14	2	0	0	0	0	0	0	2	2	2	2	3	2	4	3	3	2	3	2			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr3:121137219C>A	ENST00000273666.6	+	27	3605	c.3334C>A	c.(3334-3336)Ctt>Att	p.L1112I	STXBP5L_ENST00000471454.1_Missense_Mutation_p.L1088I	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	1112					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		p.L1112I(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		ATCCCGCAGCCTTGCGCAACA	0.483													4	42					0.00909568	0.00950295	1	1	0	A	121137219	C	A	121137219	3	1	49	1	0	0	0	0	1	0	0	0	15413	681	24	4	3436	4	STXBP5L	3	121137219	Missense_Mutation	SNP	C	TCGA-EJ-5511-01A-01D-1576-08	9431357	121137219	76885211	12	2482											
FST	10468	broad.mit.edu	37	chr5	52780040	52780040	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtgggaatgatggagtcaCctactccagtgcctgccacc	8	9	11	13	0	1	1	1	1	0	0	2	3	2	3	5	2	3	0	5	2	2	1			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr5:52780040C>A	ENST00000396947.3	+	4	804	c.638C>A	c.(637-639)aCc>aAc	p.T213N	FST_ENST00000256759.3_Missense_Mutation_p.T213N	NM_006350.3	NP_006341.1	P19883	FST_HUMAN	follistatin	213	Kazal-like 2.				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity	p.T213N(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				GATGGAGTCACCTACTCCAGT	0.502													13	95					1.61879e-10	1.82767e-10	1	1	0	A	52780040	C	A	52780040	3	1	49	1	0	0	0	0	1	0	0	0	6111	507	18	4	652	4	FST	5	52780040	Missense_Mutation	SNP	C	TCGA-EJ-5511-01A-01D-1576-08		52780040	128135220	13	2483											
SGCD	6444	broad.mit.edu	37	chr5	156184679	156184679	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcaatatggaagccacctgCaggacagagctgagactgga	13	5	14	9	0	0	2	0	1	0	2	0	6	0	5	2	4	3	3	2	4	3	1			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr5:156184679C>T	ENST00000435422.3	+	7	1147	c.660C>T	c.(658-660)tgC>tgT	p.C220C	SGCD_ENST00000447401.1_Silent_p.C221C|SGCD_ENST00000337851.4_Silent_p.C221C|SGCD_ENST00000517913.1_Silent_p.C221C	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	220					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma		p.C221C(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AAGCCACCTGCAGGACAGAGC	0.512													7	12					0	0	1	0	0	T	156184679	C	T	156184679	2	4	49	1	0	0	0	0	0	0	0	1	14255	718	25	2		2	SGCD	5	156184679	Silent	SNP	C	TCGA-EJ-5511-01A-01D-1576-08	103404639	156184679	24730581	14	2484											
GFPT2	9945	broad.mit.edu	37	chr5	179731798	179731798	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgtgacttgctgcagggCgttctggcatttggcgaagc	5	10	16	10	3	1	1	0	1	1	0	1	2	1	1	1	4	3	4	1	4	1	3			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr5:179731798C>T	ENST00000253778.8	-	17	1985	c.1816G>A	c.(1816-1818)Gcc>Acc	p.A606T		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	606	SIS 2.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding	p.A606T(1)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	TGCTGCAGGGCGTTCTGGCAT	0.607													23	292					0	0	1	0	0	T	179731798	C	T	179731798	3	4	49	1	0	0	0	0	1	0	0	0	6388	768	27	1	244	1	GFPT2	5	179731798	Missense_Mutation	SNP	C	TCGA-EJ-5511-01A-01D-1576-08	23547119	179731798	1183462	15	2485											
CPNE5	57699	broad.mit.edu	37	chr6	36767797	36767797	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtaatccacaatgaacttGcgcacgaagtcaggattgag	15	8	10	8	2	1	2	1	2	0	0	2	4	2	3	1	1	2	2	1	1	5	3			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr6:36767797G>T	ENST00000244751.2	-	4	858	c.234C>A	c.(232-234)cgC>cgA	p.R78R		NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	78	C2 1.									central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CAATGAACTTGCGCACGAAGT	0.542													3	43					1	1	1	1	0	T	36767797	G	T	36767797	2	4	49	1	0	0	0	0	0	0	0	1	3838	1306	46	4		4	CPNE5	6	36767797	Silent	SNP	G	TCGA-EJ-5511-01A-01D-1576-08		36767797	134347270	16	2486											
SHPRH	257218	broad.mit.edu	37	chr6	146243842	146243842	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcggaggtgacagactgttgCagactcaataacattacgag	13	9	11	8	2	1	3	1	1	0	2	2	5	1	4	0	2	3	2	0	2	3	3			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr6:146243842C>G	ENST00000367503.3	-	19	4086	c.3688G>C	c.(3688-3690)Gca>Cca	p.A1230P	SHPRH_ENST00000438092.2_Missense_Mutation_p.A1230P|SHPRH_ENST00000367505.2_Missense_Mutation_p.A1226P|SHPRH_ENST00000275233.7_Missense_Mutation_p.A1226P	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	1226					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	p.A1230P(2)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CAGACTGTTGCAGACTCAATA	0.408													14	49					0	0	1	0	0	G	146243842	C	G	146243842	3	3	49	1	0	0	0	0	1	0	0	0	14346	710	25	4	1440	4	SHPRH	6	146243842	Missense_Mutation	SNP	C	TCGA-EJ-5511-01A-01D-1576-08	109476045	146243842	24871225	17	2487											
SYNE1	23345	broad.mit.edu	37	chr6	152832185	152832185	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtccacatcaatccaagaacTattgagggtcggccatcagc	12	8	9	12	1	2	2	2	1	0	1	5	2	4	2	3	2	2	0	3	2	4	2			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr6:152832185T>A	ENST00000367255.5	-	7	964	c.363A>T	c.(361-363)atA>atT	p.I121I	SYNE1_ENST00000448038.1_Silent_p.I128I|SYNE1_ENST00000341594.5_Silent_p.I121I|SYNE1_ENST00000367253.4_Silent_p.I121I|SYNE1_ENST00000265368.4_Silent_p.I121I|SYNE1_ENST00000367248.3_Silent_p.I128I|SYNE1_ENST00000466159.2_Silent_p.I121I|SYNE1_ENST00000423061.1_Silent_p.I128I|SYNE1_ENST00000413186.2_Silent_p.I121I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	121	Actin-binding.|CH 1.				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.I121I(3)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATCCAAGAACTATTGAGGGTC	0.373										HNSCC(10;0.0054)			27	155					0	0	1	0	0	A	152832185	T	A	152832185	2	1	49	1	0	0	0	0	0	0	0	1	15502	1512	53	5		5	SYNE1	6	152832185	Silent	SNP	T	TCGA-EJ-5511-01A-01D-1576-08	6588343	152832185	18282882	18	2488											
AKAP9	10142	broad.mit.edu	37	chr7	91712644	91712644	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagccacttcctataaaacTgagtaagagcattgcatccc	13	10	7	11	0	0	3	0	2	0	1	2	3	2	3	3	0	4	3	3	0	4	5			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr7:91712644T>G	ENST00000359028.2	+	34	8582	c.8357T>G	c.(8356-8358)cTg>cGg	p.L2786R	AKAP9_ENST00000356239.3_Missense_Mutation_p.L2774R|AKAP9_ENST00000358100.2_Missense_Mutation_p.L2786R			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2786					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	p.L2786R(1)|p.L2774R(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CCTATAAAACTGAGTAAGAGC	0.388			T	BRAF	papillary thyroid								10	63					0	0	1	0	0	G	91712644	T	G	91712644	3	3	49	1	0	0	0	0	1	0	0	0	456	1580	55	5	8451	5	AKAP9	7	91712644	Missense_Mutation	SNP	T	TCGA-EJ-5511-01A-01D-1576-08		91712644	67426019	19	2489											
GIMAP7	168537	broad.mit.edu	37	chr7	150217708	150217708	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagaggaaaggctgaaacaaCgggaagaggttttgaggaaa	17	5	15	4	1	0	4	0	2	0	2	0	7	0	7	0	5	2	2	0	5	5	2			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr7:150217708C>T	ENST00000313543.4	+	2	803	c.646C>T	c.(646-648)Cgg>Tgg	p.R216W		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	216							GTP binding	p.R216W(1)		breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCTGAAACAACGGGAAGAGGT	0.403													28	43					0	0	1	0	0	T	150217708	C	T	150217708	3	4	49	1	0	0	0	0	1	0	0	0	6426	527	19	1	648	1	GIMAP7	7	150217708	Missense_Mutation	SNP	C	TCGA-EJ-5511-01A-01D-1576-08	58505064	150217708	8920955	20	2490											
CSMD1	64478	broad.mit.edu	37	chr8	3265577	3265577	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgccatcatccttgaccgCgagaaagtcaaactgaggct	13	8	9	11	2	2	3	2	2	0	1	3	4	3	3	3	1	2	1	3	1	3	1			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr8:3265577C>T	ENST00000520002.1	-	15	2473	c.1918G>A	c.(1918-1920)Gcg>Acg	p.A640T	CSMD1_ENST00000539096.1_Missense_Mutation_p.A639T|CSMD1_ENST00000537824.1_Missense_Mutation_p.A639T|CSMD1_ENST00000602723.1_Missense_Mutation_p.A640T|CSMD1_ENST00000400186.3_Missense_Mutation_p.A640T|CSMD1_ENST00000602557.1_Missense_Mutation_p.A640T|CSMD1_ENST00000542608.1_Missense_Mutation_p.A639T			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	640	CUB 4.					integral to membrane		p.A639T(2)|p.A368T(2)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCCTTGACCGCGAGAAAGTCA	0.453													8	30					0	0	1	0	0	T	3265577	C	T	3265577	3	4	49	1	0	0	0	0	1	0	0	0	3969	768	27	1	9007	1	CSMD1	8	3265577	Missense_Mutation	SNP	C	TCGA-EJ-5511-01A-01D-1576-08		3265577	143098445	21	2491											
LRP12	29967	broad.mit.edu	37	chr8	105509611	105509611	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catcacaacgctgctgctcaGtataacacccccagttacct	11	9	5	16	1	2	0	2	0	0	0	2	0	2	0	3	0	5	5	3	0	4	3			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr8:105509611G>T	ENST00000276654.5	-	5	1277	c.1169C>A	c.(1168-1170)aCt>aAt	p.T390N	LRP12_ENST00000424843.2_Missense_Mutation_p.T371N	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	390	LDL-receptor class A 3.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding	p.T390N(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTGCTGCTCAGTATAACACCC	0.453													23	176					1.55795e-14	1.8176e-14	1	1	0	T	105509611	G	T	105509611	3	4	49	1	0	0	0	0	1	0	0	0	8999	1029	36	4	1422	4	LRP12	8	105509611	Missense_Mutation	SNP	G	TCGA-EJ-5511-01A-01D-1576-08	102244034	105509611	40854411	22	2492											
CSMD3	114788	broad.mit.edu	37	chr8	113585824	113585824	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtactactaagtgtcagtccGcgcatagatgcaccagtaaa	13	9	9	10	2	1	1	1	0	0	1	2	1	2	1	2	0	3	4	2	0	6	5			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr8:113585824G>A	ENST00000297405.5	-	24	4192	c.3948C>T	c.(3946-3948)cgC>cgT	p.R1316R	CSMD3_ENST00000352409.3_Silent_p.R1316R|CSMD3_ENST00000343508.3_Silent_p.R1276R|CSMD3_ENST00000455883.2_Silent_p.R1212R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1316	CUB 7.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTGTCAGTCCGCGCATAGATG	0.353										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			7	235					0	0	1	0	0	A	113585824	G	A	113585824	2	1	49	1	0	0	0	0	0	0	0	1	3971	1074	38	1		1	CSMD3	8	113585824	Silent	SNP	G	TCGA-EJ-5511-01A-01D-1576-08	8076213	113585824	32778198	23	2493											
FRMPD1	22844	broad.mit.edu	37	chr9	37744991	37744991	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctcaggcaaggccttccCaaatcttacctctatctcaa	10	11	5	15	0	4	0	2	0	3	0	6	0	5	0	3	2	2	2	3	2	5	3			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr9:37744991C>A	ENST00000539465.1	+	16	3555	c.2962C>A	c.(2962-2964)Caa>Aaa	p.Q988K	FRMPD1_ENST00000377765.3_Missense_Mutation_p.Q988K|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	988						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		AAGGCCTTCCCAAATCTTACC	0.532													6	216					0.217242	0.220391	1	1	0	A	37744991	C	A	37744991	3	1	49	1	0	0	0	0	1	0	0	0	6092	595	21	4	3020	4	FRMPD1	9	37744991	Missense_Mutation	SNP	C	TCGA-EJ-5511-01A-01D-1576-08		37744991	103468440	24	2494											
ROR2	4920	broad.mit.edu	37	chr9	94486842	94486842	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agttccccagcagcttgtagTaatcggcggcatacacctct	9	10	9	13	2	1	0	0	0	1	0	3	0	2	0	3	2	3	6	3	2	3	5			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr9:94486842T>C	ENST00000375708.3	-	9	2132	c.1934A>G	c.(1933-1935)tAc>tGc	p.Y645C	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.Y505C	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	645	Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	p.Y645C(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CAGCTTGTAGTAATCGGCGGC	0.562													23	24					0	0	1	0	0	C	94486842	T	C	94486842	3	2	49	1	0	0	0	0	1	0	0	0	13579	1638	57	3	901	3	ROR2	9	94486842	Missense_Mutation	SNP	T	TCGA-EJ-5511-01A-01D-1576-08	56741851	94486842	46726589	25	2495											
PTPN3	0	broad.mit.edu	37	chr9	112185102	112185102	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttccacaccatcccgccaatCacctttttgcaatattggtt	9	14	4	14	1	1	0	1	0	0	0	3	0	3	0	5	1	1	2	5	1	3	6			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr9:112185102C>T	ENST00000412145.1	-	8	3192	c.639G>A	c.(637-639)gtG>gtA	p.V213V	PTPN3_ENST00000374541.2_Silent_p.V344V|PTPN3_ENST00000262539.3_Intron|PTPN3_ENST00000446349.1_Intron	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	344	FERM.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity	p.V344V(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TCCCGCCAATCACCTTTTTGC	0.463													78	117					0	0	1	0	0	T	112185102	C	T	112185102	2	4	49	1	0	0	0	0	0	0	0	1	12841	813	29	2		2	PTPN3	9	112185102	Silent	SNP	C	TCGA-EJ-5511-01A-01D-1576-08	17698260	112185102	29028329	26	2496											
RAPGEF1	2889	broad.mit.edu	37	chr9	134497351	134497351	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatagagggctgcggctcCgagtagtcctccagcaactg	10	7	12	12	2	0	1	0	0	0	1	3	2	3	1	3	2	4	4	3	2	4	2			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr9:134497351C>T	ENST00000372195.1	-	11	1980	c.1737G>A	c.(1735-1737)tcG>tcA	p.S579S	RAPGEF1_ENST00000372190.3_Silent_p.S580S|RAPGEF1_ENST00000372189.3_Silent_p.S562S			Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	562					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding	p.S257S(1)|p.S580S(1)		NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GCTGCGGCTCCGAGTAGTCCT	0.587													10	17					0	0	1	0	0	T	134497351	C	T	134497351	2	4	49	1	0	0	0	0	0	0	0	1	13095	639	23	1		1	RAPGEF1	9	134497351	Silent	SNP	C	TCGA-EJ-5511-01A-01D-1576-08	22312249	134497351	6716080	27	2497											
PCDH15	65217	broad.mit.edu	37	chr10	55582081	55582081	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggtgttgggggaccagacGttgaaacggaaagtggaaaa	13	7	17	4	2	0	2	0	1	0	1	0	5	0	5	1	5	1	2	1	5	4	2			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr10:55582081G>T	ENST00000361849.3	-	34	5805	c.5411C>A	c.(5410-5412)aCg>aAg	p.T1804K	PCDH15_ENST00000395432.2_Missense_Mutation_p.T1762K|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.T1799K|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.T1733K|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.T1802K|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.T1779K	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1802					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GGGACCAGACGTTGAAACGGA	0.488										HNSCC(58;0.16)			3	37					6.4e-05	7e-05	1	1	0	T	55582081	G	T	55582081	3	4	49	1	0	0	0	0	1	0	0	0	11558	1145	40	4	2072	4	PCDH15	10	55582081	Missense_Mutation	SNP	G	TCGA-EJ-5511-01A-01D-1576-08		55582081	79952666	28	2498											
SLIT1	6585	broad.mit.edu	37	chr10	98761035	98761035	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacccatgacagggggcgcGtggtctggcagatggcatag	8	6	16	11	2	1	2	0	1	1	1	1	2	1	2	2	5	0	2	2	5	1	1			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr10:98761035G>A	ENST00000266058.4	-	37	4684	c.4439C>T	c.(4438-4440)aCg>aTg	p.T1480M	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.R1439C	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1480	CTCK.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding	p.T1480M(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CAGGGGGCGCGTGGTCTGGCA	0.657													60	85					0	0	1	0	0	A	98761035	G	A	98761035	3	1	49	1	0	0	0	0	1	0	0	0	14793	1145	40	1	169	1	SLIT1	10	98761035	Missense_Mutation	SNP	G	TCGA-EJ-5511-01A-01D-1576-08	43178954	98761035	36773712	29	2499											
GRIA4	0	broad.mit.edu	37	chr11	105804548	105804548	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgagggagtagctcgtgtccGcaaatccaagggcaaatttg	11	9	13	8	2	0	1	0	1	0	0	3	2	2	2	2	2	1	4	2	2	4	2			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr11:105804548G>A	ENST00000393127.2	+	14	2593	c.2147G>A	c.(2146-2148)cGc>cAc	p.R716H	GRIA4_ENST00000530497.1_Missense_Mutation_p.R716H|GRIA4_ENST00000282499.5_Missense_Mutation_p.R716H|GRIA4_ENST00000525187.1_Missense_Mutation_p.R716H	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	716					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	p.R716H(3)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	GCTCGTGTCCGCAAATCCAAG	0.458													5	41					0	0	1	0	0	A	105804548	G	A	105804548	3	1	49	1	0	0	0	0	1	0	0	0	6811	1087	38	1	2234	1	GRIA4	11	105804548	Missense_Mutation	SNP	G	TCGA-EJ-5511-01A-01D-1576-08		105804548	29201968	30	2500											
ATM	472	broad.mit.edu	37	chr11	108192065	108192065	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agatgtgtaagcgcagccttGagtctgtgtattcgctctat	8	14	11	8	2	2	2	0	1	2	1	3	2	2	2	1	0	2	4	1	0	3	5			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr11:108192065G>A	ENST00000278616.4	+	45	6875	c.6490G>A	c.(6490-6492)Gag>Aag	p.E2164K	ATM_ENST00000452508.2_Missense_Mutation_p.E2164K|C11orf65_ENST00000525729.1_Intron	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2164	FAT.		E -> K (in T-prolymphocytic leukemia).		cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.E2164K(3)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GCGCAGCCTTGAGTCTGTGTA	0.413			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			66	131					0	0	1	0	0	A	108192065	G	A	108192065	3	1	49	1	0	0	0	0	1	0	0	0	1108	1291	45	2	6664	2	ATM	11	108192065	Missense_Mutation	SNP	G	TCGA-EJ-5511-01A-01D-1576-08	2387517	108192065	26814451	31	2501											
IGSF9B	22997	broad.mit.edu	37	chr11	133790584	133790584	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttctctccattctcctcgggGatggtggggtggccaaaggg	5	11	15	10	1	2	0	0	0	2	0	6	1	3	1	3	7	0	0	3	7	1	2			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr11:133790584G>T	ENST00000321016.8	-	18	3266	c.3036C>A	c.(3034-3036)atC>atA	p.I1012I	IGSF9B_ENST00000533871.2_Silent_p.I1012I			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1012	Pro-rich.					integral to membrane|plasma membrane		p.I1012I(1)|p.I468I(1)		breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		TCTCCTCGGGGATGGTGGGGT	0.672													8	109					0.000442599	0.000476645	1	1	0	T	133790584	G	T	133790584	2	4	49	1	0	0	0	0	0	0	0	1	7650	1164	41	4		4	IGSF9B	11	133790584	Silent	SNP	G	TCGA-EJ-5511-01A-01D-1576-08	25598519	133790584	1215932	32	2502											
PCDH17	27253	broad.mit.edu	37	chr13	58207456	58207456	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcccgagaacgctccgctggGtacagtggtcatcgatctga	8	8	13	12	4	2	2	1	1	1	1	4	4	3	2	2	2	2	3	2	2	2	1			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr13:58207456G>T	ENST00000377918.3	+	1	802	c.776G>T	c.(775-777)gGt>gTt	p.G259V		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	259	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.G259V(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GCTCCGCTGGGTACAGTGGTC	0.582													35	51					2.47316e-13	2.83805e-13	1	1	0	T	58207456	G	T	58207456	3	4	49	1	0	0	0	0	1	0	0	0	11559	1261	44	4	778	4	PCDH17	13	58207456	Missense_Mutation	SNP	G	TCGA-EJ-5511-01A-01D-1576-08		58207456	56962422	33	2503											
ZNF592	9640	broad.mit.edu	37	chr15	85326137	85326137	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaacaccagccgccaggaGtcatttgaagcggagaaaga	16	4	12	9	2	1	4	1	1	0	3	1	6	1	5	3	2	3	0	3	2	4	1			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr15:85326137G>A	ENST00000299927.3	+	1	253	c.231G>A	c.(229-231)gaG>gaA	p.E77E	ZNF592_ENST00000560079.2_Silent_p.E77E			Q92610	ZN592_HUMAN	zinc finger protein 592	77					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E77E(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GCCGCCAGGAGTCATTTGAAG	0.527													9	83					0	0	1	0	0	A	85326137	G	A	85326137	2	1	49	1	0	0	0	0	0	0	0	1	18079	1020	36	2		2	ZNF592	15	85326137	Silent	SNP	G	TCGA-EJ-5511-01A-01D-1576-08		85326137	17205255	34	2504											
MYO1D	4642	broad.mit.edu	37	chr17	30986138	30986138	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagcacgttcttacctattGaaaatcgtctgcagggcctc	9	11	9	12	2	2	1	0	1	2	0	4	1	2	1	2	1	3	4	2	1	4	4			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr17:30986138G>A	ENST00000318217.5	-	17	2644	c.2340C>T	c.(2338-2340)ttC>ttT	p.F780F	RP11-220C2.1_ENST00000582272.1_RNA|MYO1D_ENST00000579584.1_Silent_p.F780F|MYO1D_ENST00000394649.4_Silent_p.F692F	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	780						myosin complex	actin binding|ATP binding|calmodulin binding	p.F780F(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			CTTACCTATTGAAAATCGTCT	0.493											OREG0024311	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	61					0	0	1	0	0	A	30986138	G	A	30986138	2	1	49	1	0	0	0	0	0	0	0	1	10119	1281	45	2		2	MYO1D	17	30986138	Silent	SNP	G	TCGA-EJ-5511-01A-01D-1576-08		30986138	50209072	35	2505											
GRB7	2886	broad.mit.edu	37	chr17	37898891	37898891	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttccctgagctctgcagTcctccctcacagagcccaat	7	9	6	19	0	2	2	1	1	1	1	5	2	5	2	5	0	3	2	5	0	1	1			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr17:37898891T>G	ENST00000309156.4	+	3	485	c.228T>G	c.(226-228)agT>agG	p.S76R	GRB7_ENST00000394204.1_Missense_Mutation_p.S76R|GRB7_ENST00000394209.2_Missense_Mutation_p.S76R|GRB7_ENST00000309185.3_Missense_Mutation_p.S76R|GRB7_ENST00000394211.3_Missense_Mutation_p.S76R|GRB7_ENST00000578702.1_3'UTR|GRB7_ENST00000445327.2_Missense_Mutation_p.S99R	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	76					blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity	p.S76R(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			AGCTCTGCAGTCCTCCCTCAC	0.632													60	109					0	0	1	0	0	G	37898891	T	G	37898891	3	3	49	1	0	0	0	0	1	0	0	0	6800	1664	58	5	234	5	GRB7	17	37898891	Missense_Mutation	SNP	T	TCGA-EJ-5511-01A-01D-1576-08	6912753	37898891	43296319	36	2506											
ETV4	2118	broad.mit.edu	37	chr17	41611325	41611325	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggactctggggctccttcttGatcctggtggtggggctgtg	2	13	17	9	0	2	1	0	1	2	0	4	2	4	2	2	7	0	2	2	7	0	2			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr17:41611325G>A	ENST00000319349.5	-	6	583	c.285C>T	c.(283-285)atC>atT	p.I95I	ETV4_ENST00000545089.1_Silent_p.I95I|ETV4_ENST00000538265.1_Silent_p.I56I|ETV4_ENST00000393664.2_Silent_p.I95I|ETV4_ENST00000545954.1_Silent_p.I56I|ETV4_ENST00000591713.1_Silent_p.I95I	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN	ets variant 4	95					positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.I95I(1)	EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		GCTCCTTCTTGATCCTGGTGG	0.627			T	"EWSR1, TMPRSS2, DDX5, KLK2, CANT1"	"Ewing sarcoma, Prostate carcinoma"								37	18					0	0	1	0	0	A	41611325	G	A	41611325	2	1	49	1	0	0	0	0	0	0	0	1	5309	1280	45	2		2	ETV4	17	41611325	Silent	SNP	G	TCGA-EJ-5511-01A-01D-1576-08	3712434	41611325	39583885	37	2507											
FZD2	2535	broad.mit.edu	37	chr17	42635479	42635479	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgcctgcgctgcgagcacttCccgcgccacggcgccgagca	5	4	13	19	8	0	0	0	0	0	0	1	2	1	0	4	1	4	3	4	1	0	1			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr17:42635479C>T	ENST00000315323.3	+	1	555	c.423C>T	c.(421-423)ttC>ttT	p.F141F		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled family receptor 2	141	FZ.				axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.F141F(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GCGAGCACTTCCCGCGCCACG	0.711													36	45					0	0	1	0	0	T	42635479	C	T	42635479	2	4	49	1	0	0	0	0	0	0	0	1	6165	854	30	2		2	FZD2	17	42635479	Silent	SNP	C	TCGA-EJ-5511-01A-01D-1576-08	1024154	42635479	38559731	38	2508			1	10		7	7	1021	C		3.077056e-20
FZD2	2535	broad.mit.edu	37	chr17	42635653	42635653	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccacgctggagcaccccttCcactgcccgcgcgtcctcaa	6	6	9	20	4	1	0	1	0	0	0	3	1	3	1	6	1	2	2	6	1	1	1			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr17:42635653C>A	ENST00000315323.3	+	1	729	c.597C>A	c.(595-597)ttC>ttA	p.F199L		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled family receptor 2	199					axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.F199L(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		AGCACCCCTTCCACTGCCCGC	0.741													4	5					0.00116845	0.00123926	1	1	0	A	42635653	C	A	42635653	3	1	49	1	0	0	0	0	1	0	0	0	6165	854	30	4	599	4	FZD2	17	42635653	Missense_Mutation	SNP	C	TCGA-EJ-5511-01A-01D-1576-08	174	42635653	38559557	39	2509			1	10		7	7	1021	C		3.077056e-20
FZD2	2535	broad.mit.edu	37	chr17	42635702	42635702	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctatctcagctacaagtttCtgggcgagcgtgattgtgct	7	13	11	10	2	2	1	1	1	2	0	3	2	2	1	1	1	4	3	1	1	3	4			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr17:42635702C>G	ENST00000315323.3	+	1	778	c.646C>G	c.(646-648)Ctg>Gtg	p.L216V		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled family receptor 2	216					axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.L216V(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CTACAAGTTTCTGGGCGAGCG	0.672													22	22					0	0	1	0	0	G	42635702	C	G	42635702	3	3	49	1	0	0	0	0	1	0	0	0	6165	912	32	4	648	4	FZD2	17	42635702	Missense_Mutation	SNP	C	TCGA-EJ-5511-01A-01D-1576-08	49	42635702	38559508	40	2510			1	10		7	7	1021	C		3.077056e-20
FZD2	2535	broad.mit.edu	37	chr17	42636061	42636061	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcctcttcatgatgctctaCttcttcagcatggccagctc	7	14	6	14	0	5	1	2	1	3	0	7	1	6	1	2	1	4	3	2	1	1	4			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr17:42636061C>G	ENST00000315323.3	+	1	1137	c.1005C>G	c.(1003-1005)taC>taG	p.Y335*		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled family receptor 2	335					axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.Y335*(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TGATGCTCTACTTCTTCAGCA	0.617													33	71					0	0	1	0	0	G	42636061	C	G	42636061	4	3	49	1	0	0	0	0	0	1	0	0	6165	576	20	4	1007	4	FZD2	17	42636061	Nonsense_Mutation	SNP	C	TCGA-EJ-5511-01A-01D-1576-08	359	42636061	38559149	41	2511			1	10		7	7	1021	C		3.077056e-20
FZD2	2535	broad.mit.edu	37	chr17	42636173	42636173	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccaactctcagtacttcCacctggccgcctgggccgtg	6	8	11	16	2	1	0	1	0	1	0	3	0	2	0	6	3	2	1	6	3	2	2			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr17:42636173C>T	ENST00000315323.3	+	1	1249	c.1117C>T	c.(1117-1119)Cac>Tac	p.H373Y		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled family receptor 2	373					axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.H373Y(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TCAGTACTTCCACCTGGCCGC	0.662													52	90					0	0	1	0	0	T	42636173	C	T	42636173	3	4	49	1	0	0	0	0	1	0	0	0	6165	594	21	2	1119	2	FZD2	17	42636173	Missense_Mutation	SNP	C	TCGA-EJ-5511-01A-01D-1576-08	112	42636173	38559037	42	2512			1	10		7	7	1021	C		3.077056e-20
FZD2	2535	broad.mit.edu	37	chr17	42636211	42636211	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgccggccgtcaagaccatCaccatcctggccatgggcca	8	6	11	16	2	2	1	2	0	0	1	3	1	3	1	7	3	1	0	7	3	1	0			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr17:42636211C>T	ENST00000315323.3	+	1	1287	c.1155C>T	c.(1153-1155)atC>atT	p.I385I		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled family receptor 2	385					axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.I385I(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TCAAGACCATCACCATCCTGG	0.677													53	93					0	0	1	0	0	T	42636211	C	T	42636211	2	4	49	1	0	0	0	0	0	0	0	1	6165	816	29	2		2	FZD2	17	42636211	Silent	SNP	C	TCGA-EJ-5511-01A-01D-1576-08	38	42636211	38558999	43	2513			1	10		7	7	1021	C		3.077056e-20
FZD2	2535	broad.mit.edu	37	chr17	42636499	42636499	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcgtcatcgcttgctacttCtacgagcaggccttccgcga	7	11	9	14	5	2	0	1	0	1	0	5	2	3	0	2	1	4	3	2	1	2	5			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr17:42636499C>T	ENST00000315323.3	+	1	1575	c.1443C>T	c.(1441-1443)ttC>ttT	p.F481F		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled family receptor 2	481					axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.F481F(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CTTGCTACTTCTACGAGCAGG	0.647													23	36					0	0	1	0	0	T	42636499	C	T	42636499	2	4	49	1	0	0	0	0	0	0	0	1	6165	912	32	2		2	FZD2	17	42636499	Silent	SNP	C	TCGA-EJ-5511-01A-01D-1576-08	288	42636499	38558711	44	2514			1	10		7	7	1021	C		3.077056e-20
LAMA1	284217	broad.mit.edu	37	chr18	6943333	6943333	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccattttccatcacagagCacagtggcggttttgggctc	7	12	11	11	1	1	1	1	0	0	1	3	1	2	1	2	3	2	3	2	3	0	4			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr18:6943333C>A	ENST00000389658.3	-	62	9006	c.8913G>T	c.(8911-8913)gtG>gtT	p.V2971V		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2971	Laminin G-like 5.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CATCACAGAGCACAGTGGCGG	0.458													5	154					0.0293803	0.0302445	1	1	0	A	6943333	C	A	6943333	2	1	49	1	0	0	0	0	0	0	0	1	8644	697	25	4		4	LAMA1	18	6943333	Silent	SNP	C	TCGA-EJ-5511-01A-01D-1576-08		6943333	71133915	45	2515											
CHST8	64377	broad.mit.edu	37	chr19	34180279	34180279	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggaccctacggagctcGccccccagcaggtgccaggt	7	5	13	16	2	0	0	0	0	0	0	1	2	0	2	5	4	5	3	5	4	1	1			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr19:34180279G>A	ENST00000262622.3	+	2	870	c.112G>A	c.(112-114)Gcc>Acc	p.A38T	CHST8_ENST00000434302.1_Missense_Mutation_p.A38T|CHST8_ENST00000604556.1_Missense_Mutation_p.A38T|CHST8_ENST00000438847.2_Missense_Mutation_p.A38T	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	38					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	p.A38T(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					TACGGAGCTCGCCCCCCAGCA	0.632													50	103					0	0	1	0	0	A	34180279	G	A	34180279	3	1	49	1	0	0	0	0	1	0	0	0	3432	1087	38	1	114	1	CHST8	19	34180279	Missense_Mutation	SNP	G	TCGA-EJ-5511-01A-01D-1576-08		34180279	24948704	46	2516											
ZNF761	388561	broad.mit.edu	37	chr19	53950475	53950475	+	RNA	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctaaagactcttggtacGtgaggaagaaacccggaaga	14	8	11	8	2	2	4	0	1	2	3	2	6	2	6	1	3	2	1	1	3	6	4	rs8111707	by1000genomes	TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr19:53950475G>T	ENST00000454407.1	+	0	407							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		CTCTTGGTACGTGAGGAAGAA	0.438													5	80					5.9392e-07	6.59911e-07	1	1	0	T	53950475	G	T	53950475	1	4	49	0	1	0	0	0	0	0	0	0	18186	1160	40	4		4	ZNF761	19	53950475	RNA	SNP	G	TCGA-EJ-5511-01A-01D-1576-08	19770196	53950475	5178508	47	2517											
FOXA2	3170	broad.mit.edu	37	chr20	22563512	22563512	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgcccatggccccggccGcctgccccccgagcgggctc	2	3	14	22	5	0	0	0	0	0	0	1	1	0	0	9	4	2	1	9	4	0	0			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr20:22563512G>A	ENST00000419308.2	-	2	552	c.350C>T	c.(349-351)gCg>gTg	p.A117V	FOXA2_ENST00000319993.4_Missense_Mutation_p.A123V|FOXA2_ENST00000377115.4_Missense_Mutation_p.A117V	NM_021784.4	NP_068556.2	Q9Y261	FOXA2_HUMAN	forkhead box A2	117					cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.A117V(1)		breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					GGCCCCGGCCGCCTGCCCCCC	0.781													11	17					0	0	1	0	0	A	22563512	G	A	22563512	3	1	49	1	0	0	0	0	1	0	0	0	6023	1087	38	1	1027	1	FOXA2	20	22563512	Missense_Mutation	SNP	G	TCGA-EJ-5511-01A-01D-1576-08		22563512	40462008	48	2518											
BAGE2	85319	broad.mit.edu	37	chr21	11085832	11085834	+	RNA	DEL	CAC	CAC	-																															accatcaccaccaccaccatCaccatcaccaccaccaccac																										TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chr21:11085832_11085834delCAC	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)		ccaccaccatcaccatcaccacc	0.586													2	4	---	---	---	---						-	11085834	CAC	-	11085832	6	5	49	0	1	1	0	1	0	0	0	0	1290	841	29	0		0	BAGE2	21	11085832	RNA	DEL	CAC	TCGA-EJ-5511-01A-01D-1576-08		11085832	37044063	49	2519											
CXorf58	254158	broad.mit.edu	37	chrX	23934359	23934359	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaggtgaaacgtttccacctTtcatcgtgtttaaaattttt	10	17	7	7	2	1	1	1	1	0	0	3	2	2	1	2	1	1	2	2	1	3	6			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chrX:23934359T>C	ENST00000379211.3	+	5	886	c.337T>C	c.(337-339)Ttc>Ctc	p.F113L		NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	Q96LI9	CX058_HUMAN	chromosome X open reading frame 58	113								p.F113L(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						GTTTCCACCTTTCATCGTGTT	0.338													19	7					0	0	1	0	0	C	23934359	T	C	23934359	3	2	49	1	0	0	0	0	1	0	0	0	4137	1841	64	3	351	3	CXorf58	23	23934359	Missense_Mutation	SNP	T	TCGA-EJ-5511-01A-01D-1576-08		23934359	131336201	50	2520											
KLHL13	90293	broad.mit.edu	37	chrX	117053579	117053579	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgaaggttgtccatattaaGagaaagctttgcagtataaa	15	13	9	4	0	0	2	0	1	0	1	1	3	1	2	1	1	2	4	1	1	7	7			TCGA-EJ-5511-01A-01D-1576-08	TCGA-EJ-5511-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e536fb66-cd30-4a00-9c66-ca13be6fe4b1	4452049f-29f1-46b3-92c6-41ebe5c50439	g.chrX:117053579G>C	ENST00000371876.1	-	3	2743	c.322C>G	c.(322-324)Ctt>Gtt	p.L108V	KLHL13_ENST00000541812.1_Missense_Mutation_p.L143V|KLHL13_ENST00000262820.3_Missense_Mutation_p.L159V|KLHL13_ENST00000545703.1_Missense_Mutation_p.L117V|KLHL13_ENST00000371882.1_Missense_Mutation_p.L108V|KLHL13_ENST00000540167.1_Missense_Mutation_p.L143V|KLHL13_ENST00000469946.1_Missense_Mutation_p.L108V|KLHL13_ENST00000371878.1_Missense_Mutation_p.L108V|KLHL13_ENST00000539496.1_Missense_Mutation_p.L162V			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	159	BTB.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex		p.L159V(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TCCATATTAAGAGAAAGCTTT	0.378													6	80					0	0	1	0	0	C	117053579	G	C	117053579	3	2	49	1	0	0	0	0	1	0	0	0	8412	942	33	4	1508	4	KLHL13	23	117053579	Missense_Mutation	SNP	G	TCGA-EJ-5511-01A-01D-1576-08	93119220	117053579	38216981	51	2521											
GPATCH4	54865	broad.mit.edu	37	chr1	156568875	156568875	+	Translation_Start_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatcctcagactctcaccaGagaagaagaggtgatatcat	14	9	8	10	0	3	5	3	1	1	4	5	6	4	5	2	1	0	0	2	1	4	2			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr1:156568875G>T	ENST00000368232.4	-	0	96				GPATCH4_ENST00000334588.7_De_novo_Start_OutOfFrame|GPATCH4_ENST00000438976.2_Intron	NM_015590.3|NM_182679.2	NP_056405.2|NP_872620.1	Q5T3I0	GPTC4_HUMAN	G patch domain containing 4							intracellular	nucleic acid binding			autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ACTCTCACCAGAGAAGAAGAG	0.448													3	71					1	1	1	1	0	T	156568875	G	T	156568875	1	4	50	1	0	0	0	0	0	0	0	0	6633	957	33	4		4	GPATCH4	1	156568875	Translation_Start_Site	SNP	G	TCGA-EJ-5512-01A-01D-1576-08		156568875	92681746	1	2522											
OR6K2	81448	broad.mit.edu	37	chr1	158669837	158669837	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataatctccactgcatgaatGacatccactacctgaatcat	14	11	4	12	0	2	3	1	3	1	0	4	3	3	3	3	0	2	1	3	0	4	2			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr1:158669837G>T	ENST00000359610.2	-	1	649	c.606C>A	c.(604-606)gtC>gtA	p.V202V		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V202V(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					CTGCATGAATGACATCCACTA	0.483													31	194					3.62531e-18	4.46192e-18	1	1	0	T	158669837	G	T	158669837	2	4	50	1	0	0	0	0	0	0	0	1	11249	1277	45	4		4	OR6K2	1	158669837	Silent	SNP	G	TCGA-EJ-5512-01A-01D-1576-08	2100962	158669837	90580784	2	2523											
PLA2G4A	5321	broad.mit.edu	37	chr1	186915867	186915867	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aattttttatgggaacagtcGttaagaagtatgaagaaaac	17	12	9	3	1	0	3	0	1	0	2	1	4	0	4	0	1	2	2	0	1	9	5			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr1:186915867G>A	ENST00000367466.3	+	11	1284	c.1132G>A	c.(1132-1134)Gtt>Att	p.V378I	PLA2G4A_ENST00000442353.2_Missense_Mutation_p.V318I	NM_024420.2	NP_077734.1	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	378	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity	p.V378I(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	GGGAACAGTCGTTAAGAAGTA	0.338													21	117					0	0	1	0	0	A	186915867	G	A	186915867	3	1	50	1	0	0	0	0	1	0	0	0	12049	1145	40	1	1170	1	PLA2G4A	1	186915867	Missense_Mutation	SNP	G	TCGA-EJ-5512-01A-01D-1576-08	28246030	186915867	62334754	3	2524											
TM4SF18	116441	broad.mit.edu	37	chr3	149040066	149040066	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagatcactgaatagcttcCacacagtatcttggatagtt	13	12	8	8	0	2	2	1	1	1	1	3	4	3	3	1	1	1	3	1	1	5	6			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr3:149040066C>A	ENST00000296059.2	-	5	833	c.568G>T	c.(568-570)Gga>Tga	p.G190*	TM4SF18_ENST00000470080.1_Nonsense_Mutation_p.G190*|RP11-206M11.7_ENST00000489011.1_RNA	NM_138786.3	NP_620141.1	Q96CE8	T4S18_HUMAN	transmembrane 4 L six family member 18	190						integral to membrane		p.G190*(1)		lung(1)|ovary(1)|prostate(1)	3			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GAATAGCTTCCACACAGTATC	0.428													3	83					0.004672	0.00521526	1	1	0	A	149040066	C	A	149040066	4	1	50	1	0	0	0	0	0	1	0	0	16027	603	21	4	45	4	TM4SF18	3	149040066	Nonsense_Mutation	SNP	C	TCGA-EJ-5512-01A-01D-1576-08		149040066	48982364	4	2525											
BMP2K	55589	broad.mit.edu	37	chr4	79792164	79792166	+	In_Frame_Del	DEL	CAC	CAC	-																															agcagcagcagcagcagcagCaccaccaccaccaccaccac																								rs5859657		TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr4:79792164_79792166delCAC	ENST00000335016.5	+	11	1625_1627	c.1459_1461delCAC	c.(1459-1461)del	p.H494del	BMP2K_ENST00000502871.1_In_Frame_Del_p.H494del	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	494	Gln/His-rich.					nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						gcagcagcagcaccaccaccacc	0.502													8	68	---	---	---	---						-	79792166	CAC	-	79792164	7	5	50	1	0	1	0	1	0	0	0	0	1459	710	25	0	1501	0	BMP2K	4	79792164	In_Frame_Del	DEL	CAC	TCGA-EJ-5512-01A-01D-1576-08		79792164	111362112	5	2526											
GRID2	2895	broad.mit.edu	37	chr4	94006409	94006409	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgcctggcagaaattcattAtattctatgatagtgaatac	14	14	7	6	0	2	3	1	2	1	1	2	3	2	3	1	1	2	1	1	1	7	7			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr4:94006409A>G	ENST00000282020.4	+	3	766	c.508A>G	c.(508-510)Ata>Gta	p.I170V	GRID2_ENST00000510992.1_Intron|GRID2_ENST00000505687.1_3'UTR	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	170					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.I170V(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GAAATTCATTATATTCTATGA	0.353													4	347					0	0	1	0	0	G	94006409	A	G	94006409	3	3	50	1	0	0	0	0	1	0	0	0	6813	449	16	3	518	3	GRID2	4	94006409	Missense_Mutation	SNP	A	TCGA-EJ-5512-01A-01D-1576-08	14214245	94006409	97147867	6	2527											
SLC36A2	153201	broad.mit.edu	37	chr5	150701741	150701741	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggcataggtgcacaggatgCcggcaatgtagagaagcttg	11	7	16	7	1	0	1	0	0	0	1	0	3	0	2	1	4	3	5	1	4	4	3			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr5:150701741C>T	ENST00000335244.4	-	9	1175	c.1046G>A	c.(1045-1047)gGc>gAc	p.G349D	SLC36A2_ENST00000521967.1_Missense_Mutation_p.G349D|SLC36A2_ENST00000450886.1_Missense_Mutation_p.G73D	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	349					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity	p.G349D(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCACAGGATGCCGGCAATGTA	0.562													3	80					0	0	1	0	0	T	150701741	C	T	150701741	3	4	50	1	0	0	0	0	1	0	0	0	14649	739	26	2	413	2	SLC36A2	5	150701741	Missense_Mutation	SNP	C	TCGA-EJ-5512-01A-01D-1576-08		150701741	30213519	7	2528											
SERPINB9	5272	broad.mit.edu	37	chr6	2896330	2896330	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccaaagagcctgttggccGttctcagcaggtactgtgtg	7	11	12	11	1	1	1	1	0	1	1	3	1	2	1	3	2	3	4	3	2	2	3			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr6:2896330G>A	ENST00000380698.4	-	3	352	c.263C>T	c.(262-264)aCg>aTg	p.T88M		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	88					anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity	p.T88M(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				CCTGTTGGCCGTTCTCAGCAG	0.443													6	206					0	0	1	0	0	A	2896330	G	A	2896330	3	1	50	1	0	0	0	0	1	0	0	0	14162	1145	40	1	887	1	SERPINB9	6	2896330	Missense_Mutation	SNP	G	TCGA-EJ-5512-01A-01D-1576-08		2896330	168218737	8	2529											
C6orf165	154313	broad.mit.edu	37	chr6	88138375	88138375	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcactttctactctgtggaCcagcttgcaagacgaaacta	11	11	8	11	1	2	1	0	0	2	1	2	3	2	2	1	1	5	3	1	1	4	4			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr6:88138375C>G	ENST00000507897.1	+	9	1075	c.992C>G	c.(991-993)aCc>aGc	p.T331S	C6ORF165_ENST00000369562.4_Missense_Mutation_p.T331S			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	331								p.T331S(2)		NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		ACTCTGTGGACCAGCTTGCAA	0.368													35	346					0	0	1	0	0	G	88138375	C	G	88138375	3	3	50	1	0	0	0	0	1	0	0	0	2355	507	18	4	1022	4	C6orf165	6	88138375	Missense_Mutation	SNP	C	TCGA-EJ-5512-01A-01D-1576-08	85242045	88138375	82976692	9	2530											
ATG5	9474	broad.mit.edu	37	chr6	106764041	106764041	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgaaacaagttggaattcGtccaaaccacacatctcgaa	15	8	7	11	3	1	1	0	1	1	0	4	3	2	2	2	1	2	1	2	1	5	2			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr6:106764041G>A	ENST00000369076.3	-	2	366	c.43C>T	c.(43-45)Cga>Tga	p.R15*	ATG5_ENST00000360666.4_Nonsense_Mutation_p.R15*|ATG5_ENST00000369070.1_De_novo_Start_OutOfFrame|ATG5_ENST00000343245.3_Nonsense_Mutation_p.R15*	NM_004849.2	NP_004840.1	Q9H1Y0	ATG5_HUMAN	autophagy related 5	15					apoptosis|autophagic vacuole assembly|negative regulation of type I interferon production|post-translational protein modification	autophagic vacuole|pre-autophagosomal structure membrane	protein binding	p.R15*(1)		endometrium(1)|large_intestine(5)|lung(1)|prostate(1)	8	Breast(9;0.0296)	all_cancers(87;0.000301)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0612)|Lung NSC(302;0.216)	BRCA - Breast invasive adenocarcinoma(8;0.00802)	OV - Ovarian serous cystadenocarcinoma(136;0.128)|Epithelial(106;0.159)|all cancers(137;0.18)		GTTGGAATTCGTCCAAACCAC	0.378													42	234					0	0	1	0	0	A	106764041	G	A	106764041	4	1	50	1	0	0	0	0	0	1	0	0	1099	1153	40	1	812	1	ATG5	6	106764041	Nonsense_Mutation	SNP	G	TCGA-EJ-5512-01A-01D-1576-08	18625666	106764041	64351026	10	2531											
CYP3A43	64816	broad.mit.edu	37	chr7	99441785	99441785	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggctgtatgaggggcaacagCccatgctggtcatcatggat	9	9	14	9	0	2	1	2	1	0	0	2	2	2	2	1	5	3	4	1	5	2	1			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr7:99441785C>A	ENST00000354829.2	+	4	341	c.238C>A	c.(238-240)Ccc>Acc	p.P80T	CYP3A43_ENST00000222382.5_Missense_Mutation_p.P80T|CYP3A43_ENST00000444905.1_Intron|CYP3A43_ENST00000417625.1_Intron|CYP3A43_ENST00000477658.1_Intron|CYP3A43_ENST00000415413.1_Intron|CYP3A43_ENST00000312017.5_Missense_Mutation_p.P80T|CYP3A43_ENST00000342499.4_Intron	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	80			YGTHSHKLFKKLGIPGPTPLPFLGTILFYLRGLWNFDRECN EKYGEMWGLYEGQQPMLVIMDPD -> LGPIHINFLRSWEF LGQPLCLFWELFCSTLGVFGILTENVMKNTEKCGGCMRGNS PCWSSWIPT (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding	p.P80T(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	GGGGCAACAGCCCATGCTGGT	0.458													4	82					0.00909568	0.00992256	1	1	0	A	99441785	C	A	99441785	3	1	50	1	0	0	0	0	1	0	0	0	4202	739	26	4	252	4	CYP3A43	7	99441785	Missense_Mutation	SNP	C	TCGA-EJ-5512-01A-01D-1576-08		99441785	59696878	11	2532											
AGK	55750	broad.mit.edu	37	chr7	141315346	141315346	+	Nonsense_Mutation	SNP	G	G	T																															tgagtcataccctctttgccGaaagtggaaacaaagtccag																								rs141323107		TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr7:141315346G>T	ENST00000355413.4	+	8	759	c.499G>T	c.(499-501)Gaa>Taa	p.E167*	AGK_ENST00000535825.1_Nonsense_Mutation_p.E164*|AGK_ENST00000473247.1_Nonsense_Mutation_p.E139*	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN	acylglycerol kinase	167	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway	mitochondrial membrane	acylglycerol kinase activity|ATP binding|diacylglycerol kinase activity|NAD+ kinase activity	p.E167*(2)		breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					CCTCTTTGCCGAAAGTGGAAA	0.443													64	323					7.75977e-34	1.00667e-33	1	1	0	T	141315346	G	T	141315346	4	4	50	1	0	0	0	0	0	1	0	0	380	1059	37	4	525	4	AGK	7	141315346	Nonsense_Mutation	SNP	G	TCGA-EJ-5512-01A-01D-1576-08	41873561	141315346	17823317	12	2533	14	2									
AGK	55750	broad.mit.edu	37	chr7	141315347	141315347	+	Missense_Mutation	SNP	A	A	T																															gagtcataccctctttgccgAaagtggaaacaaagtccagt																										TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr7:141315347A>T	ENST00000355413.4	+	8	760	c.500A>T	c.(499-501)gAa>gTa	p.E167V	AGK_ENST00000535825.1_Missense_Mutation_p.E164V|AGK_ENST00000473247.1_Missense_Mutation_p.E139V	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN	acylglycerol kinase	167	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway	mitochondrial membrane	acylglycerol kinase activity|ATP binding|diacylglycerol kinase activity|NAD+ kinase activity	p.E167V(2)		breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					CTCTTTGCCGAAAGTGGAAAC	0.443													68	321					0	0	1	0	0	T	141315347	A	T	141315347	3	4	50	1	0	0	0	0	1	0	0	0	380	246	9	5	526	5	AGK	7	141315347	Missense_Mutation	SNP	A	TCGA-EJ-5512-01A-01D-1576-08	1	141315347	17823316	13	2534	14	2									
NSMAF	8439	broad.mit.edu	37	chr8	59515931	59515931	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtagctctcagcagtgtgctCcgccacatggtgctctgggg	5	10	14	12	1	2	0	1	0	2	0	4	0	3	0	2	3	4	5	2	3	1	1			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr8:59515931C>T	ENST00000038176.3	-	13	1095	c.883G>A	c.(883-885)Gag>Aag	p.E295K	NSMAF_ENST00000519858.1_5'UTR|NSMAF_ENST00000427130.2_Missense_Mutation_p.E326K	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	295	BEACH.				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity	p.E295K(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				GCAGTGTGCTCCGCCACATGG	0.552													23	106					0	0	1	0	0	T	59515931	C	T	59515931	3	4	50	1	0	0	0	0	1	0	0	0	10722	864	30	2	1946	2	NSMAF	8	59515931	Missense_Mutation	SNP	C	TCGA-EJ-5512-01A-01D-1576-08		59515931	86848091	14	2535											
MTSS1	9788	broad.mit.edu	37	chr8	125597387	125597387	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttcttttttatctcttggCgggctttcttatattctaag	6	21	6	8	1	4	0	0	0	4	0	5	0	4	0	0	2	0	1	0	2	4	10			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr8:125597387C>T	ENST00000518547.1	-	6	874	c.401G>A	c.(400-402)cGc>cAc	p.R134H	MTSS1_ENST00000325064.5_Missense_Mutation_p.R134H|MTSS1_ENST00000354184.4_5'UTR|MTSS1_ENST00000378017.3_Missense_Mutation_p.R134H	NM_014751.4	NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	134	IMD.				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding	p.R134H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TATCTCTTGGCGGGCTTTCTT	0.363													57	305					0	0	1	0	0	T	125597387	C	T	125597387	3	4	50	1	0	0	0	0	1	0	0	0	10010	768	27	1	1902	1	MTSS1	8	125597387	Missense_Mutation	SNP	C	TCGA-EJ-5512-01A-01D-1576-08	66081456	125597387	20766635	15	2536											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18662047	18662047	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaacccaagcttcaggagtGcaacttggatccttgtccag	11	9	9	12	0	1	0	1	0	0	0	3	2	3	2	3	2	4	2	3	2	3	3			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr9:18662047G>A	ENST00000380548.4	+	9	1400	c.1061G>A	c.(1060-1062)tGc>tAc	p.C354Y	ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.C354Y|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.C354Y|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.C354Y	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	354						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.C354Y(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CTTCAGGAGTGCAACTTGGAT	0.418													38	209					0	0	1	0	0	A	18662047	G	A	18662047	3	1	50	1	0	0	0	0	1	0	0	0	273	1319	46	2	1095	2	ADAMTSL1	9	18662047	Missense_Mutation	SNP	G	TCGA-EJ-5512-01A-01D-1576-08		18662047	122551384	16	2537											
ZNF438	220929	broad.mit.edu	37	chr10	31133925	31133925	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	actggaaagttcgatcactcCctggttggagaccgtattta	10	12	10	9	2	1	1	1	0	0	1	3	4	2	2	2	3	0	3	2	3	3	5			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr10:31133925C>G	ENST00000538351.1	-	8	3059	c.2305G>C	c.(2305-2307)Gga>Cga	p.G769R	ZNF438_ENST00000361310.3_Missense_Mutation_p.G818R|ZNF438_ENST00000436087.2_Missense_Mutation_p.G818R|ZNF438_ENST00000444692.2_Missense_Mutation_p.G808R|ZNF438_ENST00000375311.1_Missense_Mutation_p.G382R|ZNF438_ENST00000442986.1_Missense_Mutation_p.G818R|ZNF438_ENST00000331737.6_Missense_Mutation_p.G808R|ZNF438_ENST00000413025.1_Missense_Mutation_p.G818R|ZNF438_ENST00000452305.1_Missense_Mutation_p.G808R	NM_001143769.1	NP_001137241.1	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	818					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G818R(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				TCGATCACTCCCTGGTTGGAG	0.542													80	364					0	0	1	0	0	G	31133925	C	G	31133925	3	3	50	1	0	0	0	0	1	0	0	0	17967	632	22	4	38	4	ZNF438	10	31133925	Missense_Mutation	SNP	C	TCGA-EJ-5512-01A-01D-1576-08		31133925	104400822	17	2538											
CDH23	64072	broad.mit.edu	37	chr10	73270958	73270958	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaatcagccctacagcgtcCgcatccctgaggtaggagcc	10	6	10	15	2	1	1	1	1	0	0	3	2	3	2	4	2	4	2	4	2	3	2			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr10:73270958C>A	ENST00000224721.6	+	5	423	c.418C>A	c.(418-420)Cgc>Agc	p.R140S	CDH23_ENST00000299366.7_Missense_Mutation_p.R185S|CDH23_ENST00000398842.3_Missense_Mutation_p.R140S|CDH23-AS1_ENST00000428918.1_RNA|CDH23_ENST00000461841.3_Missense_Mutation_p.R185S|CDH23_ENST00000398809.4_Missense_Mutation_p.R140S	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	140	Cadherin 2.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	p.R140S(2)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CTACAGCGTCCGCATCCCTGA	0.572													3	57					0.115264	0.120275	1	1	0	A	73270958	C	A	73270958	3	1	50	1	0	0	0	0	1	0	0	0	3130	652	23	4	436	4	CDH23	10	73270958	Missense_Mutation	SNP	C	TCGA-EJ-5512-01A-01D-1576-08	42137033	73270958	62263789	18	2539											
TNKS2	80351	broad.mit.edu	37	chr10	93600428	93600428	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccgtggtggaatatctgctAcagcatggagctgatgtgca	9	11	13	8	1	1	1	0	1	1	0	2	3	2	3	1	3	5	4	1	3	3	2			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr10:93600428A>G	ENST00000371627.4	+	14	2017	c.1638A>G	c.(1636-1638)ctA>ctG	p.L546L		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	546					positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding	p.L546L(2)		biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				AATATCTGCTACAGCATGGAG	0.433													7	330					0	0	1	0	0	G	93600428	A	G	93600428	2	3	50	1	0	0	0	0	0	0	0	1	16381	378	14	3		3	TNKS2	10	93600428	Silent	SNP	A	TCGA-EJ-5512-01A-01D-1576-08	20329470	93600428	41934319	19	2540											
PKD2L1	9033	broad.mit.edu	37	chr10	102051147	102051147	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcaaacttggtgaaggtggCcgtgagctcagtgatttcat	9	12	13	7	1	3	3	3	3	0	0	3	3	3	3	1	3	2	1	1	3	2	2			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr10:102051147C>T	ENST00000318222.3	-	12	2300	c.1918G>A	c.(1918-1920)Gcc>Acc	p.A640T	PKD2L1_ENST00000353274.3_Missense_Mutation_p.A640T|PKD2L1_ENST00000338519.3_Missense_Mutation_p.A565T	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	640					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding	p.A640T(1)		NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		GTGAAGGTGGCCGTGAGCTCA	0.507													4	168					0	0	1	0	0	T	102051147	C	T	102051147	3	4	50	1	0	0	0	0	1	0	0	0	12015	739	26	2	519	2	PKD2L1	10	102051147	Missense_Mutation	SNP	C	TCGA-EJ-5512-01A-01D-1576-08	8450719	102051147	33483600	20	2541											
MUC6	4588	broad.mit.edu	37	chr11	1019457	1019457	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgggaggcagccctgatGtggcttgtggggtgacggcc	4	9	19	9	1	0	2	0	2	0	0	0	3	0	3	2	6	1	2	2	6	0	1			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr11:1019457G>A	ENST00000421673.2	-	30	3898	c.3848C>T	c.(3847-3849)aCa>aTa	p.T1283I		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1283	Pro-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	p.T1283I(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CAGCCCTGATGTGGCTTGTGG	0.642													5	188					0	0	1	0	0	A	1019457	G	A	1019457	3	1	50	1	0	0	0	0	1	0	0	0	10028	1377	48	2	3487	2	MUC6	11	1019457	Missense_Mutation	SNP	G	TCGA-EJ-5512-01A-01D-1576-08		1019457	133987059	21	2542											
RPS6KB2	6199	broad.mit.edu	37	chr11	67196653	67196653	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtgaacgttggcccagagcGcatcgggccccactgctttg	6	8	13	14	4	0	2	0	1	0	1	1	2	0	2	3	2	3	3	3	2	1	2			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr11:67196653G>A	ENST00000312629.5	+	3	227	c.182G>A	c.(181-183)cGc>cAc	p.R61H	RPS6KB2_ENST00000524814.1_3'UTR|RPS6KB2_ENST00000539188.1_Missense_Mutation_p.R61H	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	61					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity	p.R61H(3)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			GGCCCAGAGCGCATCGGGCCC	0.622													4	192					0	0	1	0	0	A	67196653	G	A	67196653	3	1	50	1	0	0	0	0	1	0	0	0	13709	1087	38	1	192	1	RPS6KB2	11	67196653	Missense_Mutation	SNP	G	TCGA-EJ-5512-01A-01D-1576-08	66177196	67196653	67809863	22	2543											
CEP164	22897	broad.mit.edu	37	chr11	117282579	117282579	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggcagcaccacctttcaggGcataattgaggccaaccgga	11	6	12	12	1	1	1	1	1	0	0	1	2	1	2	4	4	2	3	4	4	2	3			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr11:117282579G>A	ENST00000278935.3	+	32	4379	c.4232G>A	c.(4231-4233)gGc>gAc	p.G1411D	CEP164_ENST00000533706.1_3'UTR	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1411					cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		ACCTTTCAGGGCATAATTGAG	0.592													4	128					0	0	1	0	0	A	117282579	G	A	117282579	3	1	50	1	0	0	0	0	1	0	0	0	3271	1203	42	2	4350	2	CEP164	11	117282579	Missense_Mutation	SNP	G	TCGA-EJ-5512-01A-01D-1576-08	50085926	117282579	17723937	23	2544											
ATF7IP	55729	broad.mit.edu	37	chr12	14628823	14628823	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtagaagttttgtttttcaGtgtggaaaagccactggcag	10	14	12	5	0	1	1	1	0	0	1	1	2	1	2	1	2	1	4	1	2	4	5			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr12:14628823G>T	ENST00000544627.1	+	11	3206		c.e11-1		ATF7IP_ENST00000261168.4_Splice_Site|ATF7IP_ENST00000540793.1_Splice_Site|ATF7IP_ENST00000543189.1_Splice_Site|ATF7IP_ENST00000536444.1_Splice_Site			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein						DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding	p.?(1)		cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						TTGTTTTTCAGTGTGGAAAAG	0.363													18	101					2.94398e-08	3.53278e-08	1	1	0	T	14628823	G	T	14628823	5	4	50	1	0	0	0	0	0	0	1	0	1086	1043	36	4	2900	4	ATF7IP	12	14628823	Splice_Site	SNP	G	TCGA-EJ-5512-01A-01D-1576-08		14628823	119223072	24	2545											
MYH7	4625	broad.mit.edu	37	chr14	23901077	23901077	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccctgctccggattctcCgctgtgaagacaggggctta	6	11	11	13	2	1	2	0	1	1	1	4	3	3	3	3	3	1	3	3	3	2	3			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr14:23901077C>T	ENST00000355349.3	-	7	694	c.530_splice	c.e7-1	p.G178_splice		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	178	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.G178R(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CCGGATTCTCCGCTGTGAAGA	0.547													22	92					0	0	1	0	0	T	23901077	C	T	23901077	5	4	50	1	0	0	0	0	0	0	1	0	10087	666	23	1	5411	1	MYH7	14	23901077	Splice_Site	SNP	C	TCGA-EJ-5512-01A-01D-1576-08		23901077	83448463	25	2546											
PLA2G4E	123745	broad.mit.edu	37	chr15	42302442	42302442	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctgtaatgcacttggcgcGcatgatttgatggaccctgt	7	14	11	9	2	1	2	0	2	1	0	1	3	1	3	1	2	1	3	1	2	1	4	rs147661133	by1000genomes	TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr15:42302442G>A	ENST00000413860.2	-	1	3	c.4C>T	c.(4-6)Cgc>Tgc	p.R2C	PLA2G4E_ENST00000399518.3_Intron			Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	0					phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		CACTTGGCGCGCATGATTTGA	0.507													4	192					0	0	1	0	0	A	42302442	G	A	42302442	3	1	50	1	0	0	0	0	1	0	0	0	12053	1087	38	1	2591	1	PLA2G4E	15	42302442	Missense_Mutation	SNP	G	TCGA-EJ-5512-01A-01D-1576-08		42302442	60228950	26	2547											
SQRDL	58472	broad.mit.edu	37	chr15	45965849	45965849	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcatcccaaaatagggtcGaattattcagttaagactgt	13	12	8	8	1	2	1	2	0	0	1	4	2	3	1	1	1	0	2	1	1	6	4			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr15:45965849G>T	ENST00000260324.7	+	5	890	c.504G>T	c.(502-504)tcG>tcT	p.S168S	SQRDL_ENST00000568606.1_Silent_p.S168S|RP11-96O20.4_ENST00000564080.1_Silent_p.S168S	NM_021199.2	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	168							oxidoreductase activity	p.S168S(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		AAATAGGGTCGAATTATTCAG	0.398													60	278					4.13886e-29	5.22803e-29	1	1	0	T	45965849	G	T	45965849	2	4	50	1	0	0	0	0	0	0	0	1	15185	1045	37	4		4	SQRDL	15	45965849	Silent	SNP	G	TCGA-EJ-5512-01A-01D-1576-08	3663407	45965849	56565543	27	2548											
KIF23	9493	broad.mit.edu	37	chr15	69740133	69740133	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggttgttatgttttaggcGcaaaaagccatgaactgaca	12	12	10	7	1	0	2	0	2	0	0	0	2	0	2	1	2	2	4	1	2	5	4			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr15:69740133G>A	ENST00000260363.4	+	23	2987	c.2870G>A	c.(2869-2871)cGc>cAc	p.R957H	KIF23_ENST00000537891.1_Missense_Mutation_p.R670H|KIF23_ENST00000395392.2_Missense_Mutation_p.R949H|KIF23_ENST00000559279.1_Missense_Mutation_p.R853H|KIF23_ENST00000352331.4_Missense_Mutation_p.R853H|KIF23_ENST00000558585.1_Missense_Mutation_p.R670H	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	957					blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding	p.R957H(2)		central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						TGTTTTAGGCGCAAAAAGCCA	0.398													4	217					0	0	1	0	0	A	69740133	G	A	69740133	3	1	50	1	0	0	0	0	1	0	0	0	8333	1087	38	1	2960	1	KIF23	15	69740133	Missense_Mutation	SNP	G	TCGA-EJ-5512-01A-01D-1576-08	23774284	69740133	32791259	28	2549											
JPH3	57338	broad.mit.edu	37	chr16	87678351	87678351	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaccgagacctacgtgggCgagtggaagaacgacaaacg	14	3	13	11	5	0	2	0	0	0	2	0	6	0	3	3	2	3	0	3	2	4	1	rs144950183	byFrequency	TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr16:87678351C>T	ENST00000284262.2	+	2	1112	c.870C>T	c.(868-870)ggC>ggT	p.G290G		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	290					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding	p.G290G(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		CCTACGTGGGCGAGTGGAAGA	0.672													4	90					0	0	1	0	0	T	87678351	C	T	87678351	2	4	50	1	0	0	0	0	0	0	0	1	8006	755	27	1		1	JPH3	16	87678351	Silent	SNP	C	TCGA-EJ-5512-01A-01D-1576-08		87678351	2676402	29	2550											
TRPV2	51393	broad.mit.edu	37	chr17	16321054	16321054	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccaagaagatggctctgaGgcggacagaggaaagctgga	13	4	17	7	1	1	4	0	1	1	3	1	7	1	7	1	6	1	2	1	6	3	0			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr17:16321054G>T	ENST00000338560.7	+	2	471	c.72G>T	c.(70-72)gaG>gaT	p.E24D	TRPV2_ENST00000577397.1_5'UTR	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	24	Required for interaction with SLC50A1 (By similarity).				sensory perception	integral to plasma membrane|melanosome	calcium channel activity	p.E24D(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		ATGGCTCTGAGGCGGACAGAG	0.577													4	109					0.00024832	0.000283794	1	1	0	T	16321054	G	T	16321054	3	4	50	1	0	0	0	0	1	0	0	0	16657	991	35	4	74	4	TRPV2	17	16321054	Missense_Mutation	SNP	G	TCGA-EJ-5512-01A-01D-1576-08		16321054	64874156	30	2551											
CRLF3	51379	broad.mit.edu	37	chr17	29111372	29111372	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attactggtggttcctagagTcacggcttcaatgtcaaacg	10	12	10	9	2	3	1	3	0	0	1	4	1	4	1	1	3	2	2	1	3	4	4			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr17:29111372T>G	ENST00000324238.6	-	8	1286	c.1162A>C	c.(1162-1164)Act>Cct	p.T388P	CRLF3_ENST00000544695.1_Missense_Mutation_p.T272P	NM_015986.3	NP_057070.3	Q8IUI8	CRLF3_HUMAN	cytokine receptor-like factor 3	388					negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of cell cycle arrest|positive regulation of JAK-STAT cascade|positive regulation of transcription from RNA polymerase II promoter	cytoplasm		p.T388P(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17		all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)				GTTCCTAGAGTCACGGCTTCA	0.388													3	137					0	0	1	0	0	G	29111372	T	G	29111372	3	3	50	1	0	0	0	0	1	0	0	0	3911	1667	58	5	170	5	CRLF3	17	29111372	Missense_Mutation	SNP	T	TCGA-EJ-5512-01A-01D-1576-08	12790318	29111372	52083838	31	2552											
ACACA	31	broad.mit.edu	37	chr17	35600381	35600381	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctccacattggggggaatgCggccagacacactggtcata	10	8	12	11	1	2	1	1	0	1	1	3	2	2	2	2	5	1	0	2	5	2	2			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr17:35600381C>T	ENST00000353139.5	-	22	3318	c.2837G>A	c.(2836-2838)cGc>cAc	p.R946H	ACACA_ENST00000335166.5_Missense_Mutation_p.R831H|ACACA_ENST00000394406.2_Missense_Mutation_p.R909H|ACACA_ENST00000360679.3_Missense_Mutation_p.R851H	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	909					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	p.R851H(1)|p.R946H(1)		NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GGGGGGAATGCGGCCAGACAC	0.473													6	475					0	0	1	0	0	T	35600381	C	T	35600381	3	4	50	1	0	0	0	0	1	0	0	0	106	768	27	1	4454	1	ACACA	17	35600381	Missense_Mutation	SNP	C	TCGA-EJ-5512-01A-01D-1576-08	6489009	35600381	45594829	32	2553											
COIL	8161	broad.mit.edu	37	chr17	55028287	55028287	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgcttctttgcttttctaaGagataaattaatgtcaccat	11	16	5	9	1	3	1	1	0	2	1	3	2	3	1	2	0	1	2	2	0	4	7			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr17:55028287G>A	ENST00000240316.4	-	2	350	c.316C>T	c.(316-318)Ctt>Ttt	p.L106F		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	106						Cajal body|nucleolus	protein C-terminus binding	p.L106F(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					GCTTTTCTAAGAGATAAATTA	0.378													4	230					0	0	1	0	0	A	55028287	G	A	55028287	3	1	50	1	0	0	0	0	1	0	0	0	3688	942	33	2	1438	2	COIL	17	55028287	Missense_Mutation	SNP	G	TCGA-EJ-5512-01A-01D-1576-08	19427906	55028287	26166923	33	2554											
CD79B	0	broad.mit.edu	37	chr17	62007651	62007651	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagagccagctcacattgccGgaggcgctgttcatgtagca	9	8	12	12	2	2	1	2	0	0	1	2	2	2	2	2	2	4	5	2	2	1	3			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr17:62007651G>A	ENST00000006750.3	-	3	305	c.213C>T	c.(211-213)tcC>tcT	p.S71S	CD79B_ENST00000349817.2_Intron|CD79B_ENST00000392795.3_Silent_p.S72S	NM_000626.2|NM_021602.2	NP_000617.1|NP_067613.1	P40259	CD79B_HUMAN	CD79b molecule, immunoglobulin-associated beta	71	Ig-like V-type.				cell surface receptor linked signaling pathway|immune response	Golgi apparatus|integral to plasma membrane|nucleus	transmembrane receptor activity	p.S71S(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	15						TCACATTGCCGGAGGCGCTGT	0.567			"Mis, O"		DLBCL								12	88					0	0	1	0	0	A	62007651	G	A	62007651	2	1	50	1	0	0	0	0	0	0	0	1	3059	1103	39	1		1	CD79B	17	62007651	Silent	SNP	G	TCGA-EJ-5512-01A-01D-1576-08	6979364	62007651	19187559	34	2555											
PARVB	29780	broad.mit.edu	37	chr22	44527372	44527372	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcttctcattgcagaaaaaCtggcagggtgcaagctgaat	12	10	11	8	0	1	2	1	1	1	1	2	2	1	2	0	2	5	5	0	2	4	2			TCGA-EJ-5512-01A-01D-1576-08	TCGA-EJ-5512-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49224380-bffd-4048-93a7-fb4b19285c35	05c383c1-ef34-477c-b518-2b48a62f2443	g.chr22:44527372C>G	ENST00000338758.6	+	5	445	c.382C>G	c.(382-384)Ctg>Gtg	p.L128V	PARVB_ENST00000406477.3_Missense_Mutation_p.L161V|PARVB_ENST00000404989.1_Missense_Mutation_p.L91V	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN	parvin, beta	128	CH 1.				cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding	p.L161V(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				TGCAGAAAAACTGGCAGGGTG	0.542													7	78					0	0	1	0	0	G	44527372	C	G	44527372	3	3	50	1	0	0	0	0	1	0	0	0	11516	564	20	4	619	4	PARVB	22	44527372	Missense_Mutation	SNP	C	TCGA-EJ-5512-01A-01D-1576-08		44527372	6777194	35	2556											
S100PBP	64766	broad.mit.edu	37	chr1	33291705	33291705	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttatttctccagaaatgaTgtgctcacgggtgccctctg	7	14	9	11	1	4	2	1	1	3	1	5	2	4	2	2	1	2	1	2	1	2	2			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr1:33291705T>C	ENST00000373475.5	+	3	259	c.5T>C	c.(4-6)aTg>aCg	p.M2T	S100PBP_ENST00000356689.3_3'UTR|S100PBP_ENST00000398243.3_Missense_Mutation_p.M2T|S100PBP_ENST00000373476.1_Missense_Mutation_p.M2T	NM_022753.3	NP_073590.2	Q96BU1	S1PBP_HUMAN	S100P binding protein	2						nucleus	calcium-dependent protein binding	p.M2T(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CCAGAAATGATGTGCTCACGG	0.428													48	106					0	0	0.870114	0	0	C	33291705	T	C	33291705	3	2	51	1	0	0	0	0	1	0	0	0	13843	1464	51	3	7	3	S100PBP	1	33291705	Missense_Mutation	SNP	T	TCGA-EJ-5514-01A-01D-1576-08		33291705	215958916	1	2557											
C1orf177	163747	broad.mit.edu	37	chr1	55280637	55280637	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caagagaagaaatgcaaaccCgtcaaccagcccccattcct	15	5	6	15	1	1	2	1	0	0	2	2	3	2	2	5	0	4	1	5	0	5	1			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr1:55280637C>T	ENST00000358193.3	+	8	1029	c.975C>T	c.(973-975)ccC>ccT	p.P325P	C1orf177_ENST00000371273.3_Silent_p.P325P	NM_152607.2	NP_689820.2	Q3ZCV2	CA177_HUMAN	chromosome 1 open reading frame 177	325								p.P325P(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						AATGCAAACCCGTCAACCAGC	0.547													41	140					0	0	0.859065	0	0	T	55280637	C	T	55280637	2	4	51	1	0	0	0	0	0	0	0	1	2030	639	23	1		1	C1orf177	1	55280637	Silent	SNP	C	TCGA-EJ-5514-01A-01D-1576-08	21988932	55280637	193969984	2	2558											
LRIG2	9860	broad.mit.edu	37	chr1	113636959	113636959	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctattatcttgtttattttAggaatttaagtaataacaga	14	18	6	3	0	1	1	0	0	1	1	1	2	1	2	0	1	1	3	0	1	8	11			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr1:113636959A>T	ENST00000361127.4	+	5	713		c.e5-1			NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2							cytoplasm|integral to membrane|plasma membrane		p.?(2)		breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		TGTTTATTTTAGGAATTTAAG	0.323													4	80					0	0	0.150653	0	0	T	113636959	A	T	113636959	5	4	51	1	0	0	0	0	0	0	1	0	8990	434	15	5	532	5	LRIG2	1	113636959	Splice_Site	SNP	A	TCGA-EJ-5514-01A-01D-1576-08	58356322	113636959	135613662	3	2559											
PBXIP1	57326	broad.mit.edu	37	chr1	154918697	154918697	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttccagtgctcagccttccGgtctctctgcccatcccacc	4	12	6	19	1	3	0	1	0	2	0	7	0	6	0	6	1	3	1	6	1	0	2			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr1:154918697G>A	ENST00000368463.3	-	10	1524	c.1453C>T	c.(1453-1455)Cgg>Tgg	p.R485W	PBXIP1_ENST00000539880.1_Missense_Mutation_p.R312W|PBXIP1_ENST00000542459.1_Missense_Mutation_p.R330W|PBXIP1_ENST00000368465.1_Missense_Mutation_p.R456W	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	485					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity	p.R485W(1)		breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TCAGCCTTCCGGTCTCTCTGC	0.552													17	546					0	0	0.557998	0	0	A	154918697	G	A	154918697	3	1	51	1	0	0	0	0	1	0	0	0	11543	1115	39	1	750	1	PBXIP1	1	154918697	Missense_Mutation	SNP	G	TCGA-EJ-5514-01A-01D-1576-08	41281738	154918697	94331924	4	2560											
CACNA1E	777	broad.mit.edu	37	chr1	181762828	181762828	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggttagtgaattaaaaagcGtgcagccctctaaccatggc	13	9	10	9	1	1	1	0	1	1	0	1	1	1	1	2	2	4	2	2	2	6	3			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr1:181762828G>A	ENST00000357570.5	+	45	6091	c.5779G>A	c.(5779-5781)Gtg>Atg	p.V1927M	CACNA1E_ENST00000367570.1_Intron|CACNA1E_ENST00000367573.2_Missense_Mutation_p.V1976M|CACNA1E_ENST00000526775.1_Intron|CACNA1E_ENST00000358338.5_Intron|CACNA1E_ENST00000367567.4_Intron|CACNA1E_ENST00000360108.3_Missense_Mutation_p.V1957M			Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1976					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.V1976M(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ATTAAAAAGCGTGCAGCCCTC	0.517													6	27					0	0	0.217242	0	0	A	181762828	G	A	181762828	3	1	51	1	0	0	0	0	1	0	0	0	2560	1160	40	1		1	CACNA1E	1	181762828	Missense_Mutation	SNP	G	TCGA-EJ-5514-01A-01D-1576-08	26844131	181762828	67487793	5	2561											
NBAS	51594	broad.mit.edu	37	chr2	15468434	15468434	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tatgcaccaccacatttttgCccctaaaaagaaaaaaagta	18	9	4	10	0	0	1	0	0	0	1	0	1	0	1	4	0	2	2	4	0	8	5			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr2:15468434C>T	ENST00000281513.5	-	37	4375	c.4350G>A	c.(4348-4350)ggG>ggA	p.G1450G	NBAS_ENST00000441750.1_Silent_p.G1330G	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1450								p.G1450G(2)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CACATTTTTGCCCCTaaaaag	0.388													5	303					0	0	0.184627	0	0	T	15468434	C	T	15468434	2	4	51	1	0	0	0	0	0	0	0	1	10234	726	26	2		2	NBAS	2	15468434	Silent	SNP	C	TCGA-EJ-5514-01A-01D-1576-08		15468434	227730939	6	2562											
WDR43	23160	broad.mit.edu	37	chr2	29148007	29148007	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcagttggtttcagcctacTattgagcgagtggtacgtag	8	12	14	7	2	1	1	1	1	0	0	1	2	1	1	1	3	4	5	1	3	4	7			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr2:29148007T>G	ENST00000407426.3	+	8	1130	c.1074T>G	c.(1072-1074)acT>acG	p.T358T		NM_015131.1	NP_055946.1	Q15061	WDR43_HUMAN	WD repeat domain 43	358						nucleolus		p.T401T(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	20	Acute lymphoblastic leukemia(172;0.155)					TTCAGCCTACTATTGAGCGAG	0.413													12	39					0	0	0.411799	0	0	G	29148007	T	G	29148007	2	3	51	1	0	0	0	0	0	0	0	1	17355	1509	53	5		5	WDR43	2	29148007	Silent	SNP	T	TCGA-EJ-5514-01A-01D-1576-08	13679573	29148007	214051366	7	2563											
ARID5A	10865	broad.mit.edu	37	chr2	97216909	97216909	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaggagccccccaggaacaGcacagaacagcagggcctgg	12	1	13	15	0	0	1	0	0	0	1	0	3	0	3	5	4	5	2	5	4	2	0			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr2:97216909G>A	ENST00000454558.2	+	7	1617	c.440G>A	c.(439-441)aGc>aAc	p.S147N	ARID5A_ENST00000357485.3_Missense_Mutation_p.S215N			Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	215	ARID.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding	p.S215N(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						CCCAGGAACAGCACAGAACAG	0.587													4	155					0	0	0.184627	0	0	A	97216909	G	A	97216909	3	1	51	1	0	0	0	0	1	0	0	0	918	971	34	2	670	2	ARID5A	2	97216909	Missense_Mutation	SNP	G	TCGA-EJ-5514-01A-01D-1576-08	68068902	97216909	145982464	8	2564											
IKZF2	22807	broad.mit.edu	37	chr2	213886796	213886796	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgttccttgtgctcctcCagtgaactgcgctgcttgta	5	13	10	13	2	0	1	0	1	0	0	3	1	3	1	3	0	5	5	3	0	2	4			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr2:213886796C>G	ENST00000457361.1	-	6	801	c.633G>C	c.(631-633)ctG>ctC	p.L211L	IKZF2_ENST00000374327.4_Silent_p.L66L|IKZF2_ENST00000434687.1_Silent_p.L211L|IKZF2_ENST00000451136.2_Intron|IKZF2_ENST00000421754.2_Silent_p.L185L|IKZF2_ENST00000413091.3_Silent_p.L211L|IKZF2_ENST00000342002.2_Silent_p.L217L|IKZF2_ENST00000374319.4_Silent_p.L185L	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	211					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L211L(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		TGTGCTCCTCCAGTGAACTGC	0.507													6	122					0	0	0.217242	0	0	G	213886796	C	G	213886796	2	3	51	1	0	0	0	0	0	0	0	1	7659	581	21	4		4	IKZF2	2	213886796	Silent	SNP	C	TCGA-EJ-5514-01A-01D-1576-08	116669887	213886796	29312577	9	2565											
FN1	2335	broad.mit.edu	37	chr2	216236934	216236934	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaaagatcatttgttgccCaacactgggttgctgaccag	10	11	9	11	0	2	2	2	1	0	1	2	2	2	2	2	1	3	3	2	1	2	3			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr2:216236934C>A	ENST00000354785.4	-	40	6781	c.6412G>T	c.(6412-6414)Ggg>Tgg	p.G2138W	FN1_ENST00000359671.1_Missense_Mutation_p.G2047W|FN1_ENST00000357867.4_Intron|FN1_ENST00000357009.2_Intron|FN1_ENST00000356005.4_Missense_Mutation_p.G1957W|FN1_ENST00000346544.3_Intron|FN1_ENST00000421182.1_Missense_Mutation_p.G1932W|FN1_ENST00000323926.6_Missense_Mutation_p.G2138W|FN1_ENST00000345488.5_Intron|FN1_ENST00000336916.4_Missense_Mutation_p.G2047W|FN1_ENST00000446046.1_Missense_Mutation_p.G2022W|FN1_ENST00000443816.1_Missense_Mutation_p.G1957W|FN1_ENST00000432072.2_Intron			P02751	FINC_HUMAN	fibronectin 1	2047	Fibronectin type-III 16.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	p.G2047W(1)	FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATTTGTTGCCCAACACTGGGT	0.532													4	145					0.00909568	0.00977446	0.150653	1	0	A	216236934	C	A	216236934	3	1	51	1	0	0	0	0	1	0	0	0	5995	594	21	4	1049	4	FN1	2	216236934	Missense_Mutation	SNP	C	TCGA-EJ-5514-01A-01D-1576-08	2350138	216236934	26962439	10	2566											
CLSTN2	64084	broad.mit.edu	37	chr3	140123402	140123402	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttctgtgtgtggtcccagggCcgtggtccatatacaggtga	6	12	14	9	1	1	1	0	1	1	0	3	1	3	1	3	4	1	0	3	4	2	3			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr3:140123402C>T	ENST00000458420.3	+	4	621	c.431C>T	c.(430-432)gCc>gTc	p.A144V		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	144	Cadherin 1.				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	p.A144V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GGTCCCAGGGCCGTGGTCCAT	0.547										HNSCC(16;0.037)			21	91					0	0	0.592651	0	0	T	140123402	C	T	140123402	3	4	51	1	0	0	0	0	1	0	0	0	3585	739	26	2	445	2	CLSTN2	3	140123402	Missense_Mutation	SNP	C	TCGA-EJ-5514-01A-01D-1576-08		140123402	57899028	11	2567											
IGF2BP2	10644	broad.mit.edu	37	chr3	185542687	185542687	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcctgtccccaaagagcTgccggaggtcgtcggcggtg	5	8	15	13	4	0	1	0	0	0	1	4	2	2	2	4	4	2	2	4	4	1	1			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr3:185542687T>C	ENST00000382199.2	-	1	157	c.62A>G	c.(61-63)cAg>cGg	p.Q21R	IGF2BP2_ENST00000457616.2_Missense_Mutation_p.Q21R|IGF2BP2_ENST00000346192.3_Missense_Mutation_p.Q21R	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	21	RRM 1.				anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	p.Q21R(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			CCCAAAGAGCTGCCGGAGGTC	0.682													3	14					0	0	0.248553	0	0	C	185542687	T	C	185542687	3	2	51	1	0	0	0	0	1	0	0	0	7618	1580	55	3	1801	3	IGF2BP2	3	185542687	Missense_Mutation	SNP	T	TCGA-EJ-5514-01A-01D-1576-08	45419285	185542687	12479743	12	2568											
SLC2A9	56606	broad.mit.edu	37	chr4	9828095	9828095	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtgggtatgctttgttccTtttggaaaatgcctggctga	6	16	13	6	0	0	1	0	1	0	0	1	2	1	2	2	4	2	4	2	4	3	5			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr4:9828095T>G	ENST00000506583.1	-	14	1679	c.1462A>C	c.(1462-1464)Agg>Cgg	p.R488R	SLC2A9_ENST00000264784.3_Silent_p.R517R|SLC2A9_ENST00000309065.3_Silent_p.R488R			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	517					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity	p.R488R(1)|p.R517R(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						GCTTTGTTCCTTTTGGAAAAT	0.428													6	316					0	0	0.27861	0	0	G	9828095	T	G	9828095	2	3	51	1	0	0	0	0	0	0	0	1	14607	1608	56	5		5	SLC2A9	4	9828095	Silent	SNP	T	TCGA-EJ-5514-01A-01D-1576-08		9828095	181326181	13	2569											
ANKRD17	26057	broad.mit.edu	37	chr4	74043162	74043162	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctactgtcctgaggtctgcaCcatcagcagtacctgataag	10	10	9	12	0	2	2	1	2	1	0	3	2	3	2	3	1	4	3	3	1	3	3			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr4:74043162C>A	ENST00000358602.4	-	2	598	c.482G>T	c.(481-483)gGt>gTt	p.G161V	ANKRD17_ENST00000509867.2_Missense_Mutation_p.G48V|ANKRD17_ENST00000330838.6_Missense_Mutation_p.G161V	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	161					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	p.G161V(2)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GAGGTCTGCACCATCAGCAGT	0.413													8	231					7.48243e-07	9.1311e-07	0.335167	1	0	A	74043162	C	A	74043162	3	1	51	1	0	0	0	0	1	0	0	0	642	507	18	4	7461	4	ANKRD17	4	74043162	Missense_Mutation	SNP	C	TCGA-EJ-5514-01A-01D-1576-08	64215067	74043162	117111114	14	2570											
MMRN1	22915	broad.mit.edu	37	chr4	90872798	90872798	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcatccgtgccaaaatggggGcacgtgcataaatggaagaa	14	6	13	8	2	0	1	0	0	0	1	1	2	1	2	2	3	2	3	2	3	6	1			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr4:90872798G>C	ENST00000394980.1	+	8	3480	c.3161G>C	c.(3160-3162)gGc>gCc	p.G1054A	MMRN1_ENST00000508372.1_Missense_Mutation_p.G796A|MMRN1_ENST00000264790.2_Missense_Mutation_p.G1054A|MMRN1_ENST00000394981.1_Missense_Mutation_p.G357A			Q13201	MMRN1_HUMAN	multimerin 1	1054	EGF-like.				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		p.G1054A(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		CAAAATGGGGGCACGTGCATA	0.423													31	81					0	0	0.717897	0	0	C	90872798	G	C	90872798	3	2	51	1	0	0	0	0	1	0	0	0	9719	1203	42	4	3187	4	MMRN1	4	90872798	Missense_Mutation	SNP	G	TCGA-EJ-5514-01A-01D-1576-08	16829636	90872798	100281478	15	2571											
IRF2	3660	broad.mit.edu	37	chr4	185340707	185340707	+	Frame_Shift_Del	DEL	G	G	-																															cgcatgcatccaggggatctGaaaaatcttcttttcctgaa																										TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr4:185340707delG	ENST00000393593.3	-	3	310	c.103delC	c.(103-105)agfs	p.Q35fs	IRF2_ENST00000512020.1_5'UTR	NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	35					blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		CAGGGGATCTGAAAAATCTTC	0.423													24	73	---	---	---	---						-	185340707	G	-	185340707	7	5	51	1	0	1	0	1	0	0	0	0	7872	1299	45	0	974	0	IRF2	4	185340707	Frame_Shift_Del	DEL	G	TCGA-EJ-5514-01A-01D-1576-08	94467909	185340707	5813569	16	2572											
CMYA5	202333	broad.mit.edu	37	chr5	79026181	79026181	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatttagtagaagaagagatCgtagaacttgattacccaga	17	10	9	5	1	0	6	0	1	0	5	1	7	0	6	1	0	2	2	1	0	8	6			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr5:79026181C>T	ENST00000446378.2	+	2	1624	c.1593C>T	c.(1591-1593)atC>atT	p.I531I		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	531	Glu-rich.					perinuclear region of cytoplasm		p.I531I(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AAGAAGAGATCGTAGAACTTG	0.418													83	156					0	0	0.870114	0	0	T	79026181	C	T	79026181	2	4	51	1	0	0	0	0	0	0	0	1	3613	874	31	1		1	CMYA5	5	79026181	Silent	SNP	C	TCGA-EJ-5514-01A-01D-1576-08		79026181	101889079	17	2573											
VCAN	1462	broad.mit.edu	37	chr5	82808055	82808055	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggaacggctttgaccagtgCgattacgggtggctgtcgga	8	9	16	8	4	0	1	0	1	0	0	1	4	0	3	1	5	3	2	1	5	2	2			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr5:82808055C>T	ENST00000265077.3	+	6	1447	c.882C>T	c.(880-882)tgC>tgT	p.C294C	VCAN_ENST00000502527.2_Silent_p.C294C|VCAN_ENST00000512590.2_Silent_p.C246C|VCAN_ENST00000513984.1_Silent_p.C294C|VCAN_ENST00000342785.4_Silent_p.C294C|VCAN_ENST00000343200.5_Silent_p.C294C	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	294	Link 2.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	p.C294C(2)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TTGACCAGTGCGATTACGGGT	0.602													9	81					0	0	0.361761	0	0	T	82808055	C	T	82808055	2	4	51	1	0	0	0	0	0	0	0	1	17198	776	27	1		1	VCAN	5	82808055	Silent	SNP	C	TCGA-EJ-5514-01A-01D-1576-08	3781874	82808055	98107205	18	2574											
PCDHA10	0	broad.mit.edu	37	chr5	140237390	140237390	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtgctgcggtcggtggttgCgggtcacgtggtggctaagg	3	10	21	7	4	1	0	1	0	0	0	2	0	1	0	0	8	3	3	0	8	1	2			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr5:140237390C>T	ENST00000307360.5	+	1	1757	c.1757C>T	c.(1756-1758)gCg>gTg	p.A586V	PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1												p.A586V(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGGTGGTTGCGGGTCACGTG	0.657													13	28					0	0	0.479597	0	0	T	140237390	C	T	140237390	3	4	51	1	0	0	0	0	1	0	0	0	11567	768	27	1	1759	1	PCDHA10	5	140237390	Missense_Mutation	SNP	C	TCGA-EJ-5514-01A-01D-1576-08	57429335	140237390	40677870	19	2575											
ITK	3702	broad.mit.edu	37	chr5	156670752	156670752	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggtggctatcaaaaccattCgggaaggggctatgtcagaa	13	8	13	7	1	2	1	2	0	0	1	3	2	2	2	1	5	1	2	1	5	6	3			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr5:156670752C>T	ENST00000422843.3	+	12	1332	c.1180C>T	c.(1180-1182)Cgg>Tgg	p.R394W	ITK_ENST00000519749.1_3'UTR	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	394	Protein kinase.				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.R394W(2)		breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAAAACCATTCGGGAAGGGGC	0.498			T	SYK	peripheral T-cell lymphoma								65	126					0	0	0.870114	0	0	T	156670752	C	T	156670752	3	4	51	1	0	0	0	0	1	0	0	0	7953	875	31	1	1226	1	ITK	5	156670752	Missense_Mutation	SNP	C	TCGA-EJ-5514-01A-01D-1576-08	16433362	156670752	24244508	20	2576											
RIOK1	83732	broad.mit.edu	37	chr6	7405482	7405482	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgtttttccttctgacagAtttctttatgaggcacagtg	9	16	8	8	1	2	3	0	2	2	1	3	3	3	3	1	1	1	2	1	1	2	6			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr6:7405482A>G	ENST00000379834.2	+	12	1604	c.1096_splice	c.e12-1	p.D366_splice		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	366	Protein kinase.						ATP binding|protein serine/threonine kinase activity	p.D359G(1)|p.D366G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					CTTCTGACAGATTTCTTTATG	0.363													32	79					0	0	0.750413	0	0	G	7405482	A	G	7405482	5	3	51	1	0	0	0	0	0	0	1	0	13429	347	12	3	1143	3	RIOK1	6	7405482	Splice_Site	SNP	A	TCGA-EJ-5514-01A-01D-1576-08		7405482	163709585	21	2577											
TRAF3IP2	10758	broad.mit.edu	37	chr6	111912533	111912533	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcatgtggggaaagattggGaggcagcatctgtgcacatg	11	8	16	6	0	1	1	0	0	1	1	1	3	1	3	0	4	3	4	0	4	1	1			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr6:111912533G>T	ENST00000368761.5	-	2	1235	c.757C>A	c.(757-759)Ccc>Acc	p.P253T	TRAF3IP2_ENST00000392556.4_5'UTR|TRAF3IP2_ENST00000340026.6_Missense_Mutation_p.P262T|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000359831.4_Missense_Mutation_p.P253T	NM_001164281.2|NM_147686.3	NP_001157753.1|NP_679211.2	O43734	CIKS_HUMAN	TRAF3 interacting protein 2	262					intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular		p.P253T(1)|p.P262T(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		GAAAGATTGGGAGGCAGCATC	0.537													31	48					4.66903e-05	5.51098e-05	0.750413	1	0	T	111912533	G	T	111912533	3	4	51	1	0	0	0	0	1	0	0	0	16502	1174	41	4	972	4	TRAF3IP2	6	111912533	Missense_Mutation	SNP	G	TCGA-EJ-5514-01A-01D-1576-08	104507051	111912533	59202534	22	2578											
NPC1L1	29881	broad.mit.edu	37	chr7	44561339	44561339	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaggggcagaacttgtccttAttggggccagatatataaag	12	10	13	6	0	0	2	0	0	0	2	1	3	1	2	2	4	1	1	2	4	6	6			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr7:44561339A>C	ENST00000289547.4	-	12	2980	c.2925T>G	c.(2923-2925)aaT>aaG	p.N975K	NPC1L1_ENST00000381160.3_Missense_Mutation_p.N975K|NPC1L1_ENST00000546276.1_Missense_Mutation_p.N929K	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	975					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	p.N975K(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	ACTTGTCCTTATTGGGGCCAG	0.577													3	110					0	0	0.150653	0	0	C	44561339	A	C	44561339	3	2	51	1	0	0	0	0	1	0	0	0	10618	446	16	5	1190	5	NPC1L1	7	44561339	Missense_Mutation	SNP	A	TCGA-EJ-5514-01A-01D-1576-08		44561339	114577324	23	2579											
SLC25A13	10165	broad.mit.edu	37	chr7	95750981	95750981	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttacactcctccaaaatcAatgtagaaccatcgctgtag	14	10	5	12	1	1	1	1	0	0	1	4	1	3	1	3	0	2	3	3	0	7	3			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr7:95750981A>G	ENST00000416240.2	-	17	2020	c.1830T>C	c.(1828-1830)atT>atC	p.I610I	SLC25A13_ENST00000494085.1_5'UTR|SLC25A13_ENST00000542654.1_Silent_p.I501I|SLC25A13_ENST00000265631.5_Silent_p.I609I	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	609					ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity	p.I609I(1)		breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	CTCCAAAATCAATGTAGAACC	0.413													79	244					0	0	0.870114	0	0	G	95750981	A	G	95750981	2	3	51	1	0	0	0	0	0	0	0	1	14530	126	5	3		3	SLC25A13	7	95750981	Silent	SNP	A	TCGA-EJ-5514-01A-01D-1576-08	51189642	95750981	63387682	24	2580											
MUC17	140453	broad.mit.edu	37	chr7	100684772	100684772	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcagttctgaggctagcAccctttccacaactcctgtt	7	13	8	13	0	2	1	1	1	1	0	4	1	4	1	3	2	2	4	3	2	2	4			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr7:100684772A>G	ENST00000306151.4	+	3	10139	c.10075A>G	c.(10075-10077)Acc>Gcc	p.T3359A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3359	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.T3359A(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TGAGGCTAGCACCCTTTCCAC	0.488													123	436					0	0	0.870114	0	0	G	100684772	A	G	100684772	3	3	51	1	0	0	0	0	1	0	0	0	10022	159	6	3	10085	3	MUC17	7	100684772	Missense_Mutation	SNP	A	TCGA-EJ-5514-01A-01D-1576-08	4933791	100684772	58453891	25	2581											
TNFRSF10A	8797	broad.mit.edu	37	chr8	23056931	23056931	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attgtcctcagccccaggccCtcgtaggagacccaagcgcc	8	6	10	17	2	1	1	1	0	0	1	3	2	2	1	6	2	2	1	6	2	2	2			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr8:23056931C>A	ENST00000221132.3	-	8	926	c.862G>T	c.(862-864)Ggg>Tgg	p.G288W		NM_003844.3	NP_003835.3	O00220	TR10A_HUMAN	tumor necrosis factor receptor superfamily, member 10a	288					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors		caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding	p.G288W(2)		NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		GCCCCAGGCCCTCGTAGGAGA	0.602													4	90					0.150653	0.154958	0.150653	1	0	A	23056931	C	A	23056931	3	1	51	1	0	0	0	0	1	0	0	0	16340	681	24	4	556	4	TNFRSF10A	8	23056931	Missense_Mutation	SNP	C	TCGA-EJ-5514-01A-01D-1576-08		23056931	123307091	26	2582											
EXT1	2131	broad.mit.edu	37	chr8	118812096	118812096	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcatgcagctctgtcgctggGcaaagtggtcagggtcagcc	7	9	14	11	1	4	0	3	0	1	0	5	0	4	0	1	3	3	4	1	3	1	0			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr8:118812096G>T	ENST00000378204.2	-	11	2902	c.2096C>A	c.(2095-2097)gCc>gAc	p.A699D		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	699					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity	p.A699D(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			CTGTCGCTGGGCAAAGTGGTC	0.527			"Mis, N, F, S"			"exostoses, osteosarcoma"			Langer-Giedion syndrome;Hereditary Multiple Exostoses				3	112					0.004672	0.005256	0.115264	1	0	T	118812096	G	T	118812096	3	4	51	1	0	0	0	0	1	0	0	0	5351	1203	42	4	148	4	EXT1	8	118812096	Missense_Mutation	SNP	G	TCGA-EJ-5514-01A-01D-1576-08	95755165	118812096	27551926	27	2583											
DBC1	0	broad.mit.edu	37	chr9	121976298	121976298	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgatggggcagttgcactgcGgaaactcctcggcacattgg	8	9	14	10	2	0	1	0	1	0	0	2	2	1	2	1	5	3	4	1	5	1	2	rs148052034	by1000genomes	TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr9:121976298G>A	ENST00000265922.3	-	6	1282	c.821C>T	c.(820-822)cCg>cTg	p.P274L	DBC1_ENST00000373964.2_Missense_Mutation_p.P274L	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		274					cell cycle arrest|cell death	cytoplasm	protein binding	p.P274L(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						GTTGCACTGCGGAAACTCCTC	0.547													34	113					0	0	0.788014	0	0	A	121976298	G	A	121976298	3	1	51	1	0	0	0	0	1	0	0	0	4271	1116	39	1	1476	1	DBC1	9	121976298	Missense_Mutation	SNP	G	TCGA-EJ-5514-01A-01D-1576-08		121976298	19237133	28	2584											
CACNB2	783	broad.mit.edu	37	chr10	18828621	18828621	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaaaacggaatgaggctgggGagtggaacagggatgtttac	14	7	16	4	1	0	1	0	1	0	0	0	5	0	5	0	6	3	2	0	6	5	2			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr10:18828621G>A	ENST00000396576.2	+	13	2287	c.1786G>A	c.(1786-1788)Gag>Aag	p.E596K	CACNB2_ENST00000377328.1_Missense_Mutation_p.E401K|CACNB2_ENST00000377329.4_Missense_Mutation_p.E597K|CACNB2_ENST00000324631.7_Missense_Mutation_p.E651K|CACNB2_ENST00000377319.3_Missense_Mutation_p.E558K|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377315.4_Missense_Mutation_p.E603K|CACNB2_ENST00000352115.6_Missense_Mutation_p.E627K|CACNB2_ENST00000282343.8_Missense_Mutation_p.E623K|CACNB2_ENST00000377331.2_Missense_Mutation_p.E599K	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	651					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	p.E596K(1)|p.E627K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TGAGGCTGGGGAGTGGAACAG	0.423													9	120					0	0	0.335167	0	0	A	18828621	G	A	18828621	3	1	51	1	0	0	0	0	1	0	0	0	2571	1175	41	2	2315	2	CACNB2	10	18828621	Missense_Mutation	SNP	G	TCGA-EJ-5514-01A-01D-1576-08		18828621	116706126	29	2585											
PNLIPRP1	5407	broad.mit.edu	37	chr10	118357365	118357365	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatcctgtagaagcaagtttCgagagtactcctgaagaggt	12	10	12	7	1	0	4	0	1	0	3	3	6	2	4	2	1	2	4	2	1	5	3	rs113515929	by1000genomes	TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr10:118357365C>T	ENST00000528052.1	+	7	671	c.600C>T	c.(598-600)ttC>ttT	p.F200F	PNLIPRP1_ENST00000534537.1_Silent_p.F200F|PNLIPRP1_ENST00000358834.4_Silent_p.F200F			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	200					lipid metabolic process		calcium ion binding|triglyceride lipase activity	p.F200F(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		AAGCAAGTTTCGAGAGTACTC	0.493													43	119					0	0	0.847076	0	0	T	118357365	C	T	118357365	2	4	51	1	0	0	0	0	0	0	0	1	12198	883	31	1		1	PNLIPRP1	10	118357365	Silent	SNP	C	TCGA-EJ-5514-01A-01D-1576-08	99528744	118357365	17177382	30	2586											
OR5I1	10798	broad.mit.edu	37	chr11	55703643	55703643	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagcattttgggaacaatGtctgagaaatagcaaaggtc	15	9	10	7	0	1	1	0	1	1	1	2	3	1	2	1	2	3	2	1	2	5	3	rs144543203		TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr11:55703643G>T	ENST00000301532.3	-	1	233	c.234C>A	c.(232-234)gaC>gaA	p.D78E		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D78E(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TGGGAACAATGTCTGAGAAAT	0.383													4	104					0.00909568	0.00977446	0.150653	1	0	T	55703643	G	T	55703643	3	4	51	1	0	0	0	0	1	0	0	0	11211	1368	48	4	713	4	OR5I1	11	55703643	Missense_Mutation	SNP	G	TCGA-EJ-5514-01A-01D-1576-08		55703643	79302873	31	2587											
NPAT	4863	broad.mit.edu	37	chr11	108031665	108031665	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagatttttactagaaggaCgagagtttcgctcacgttca	12	13	9	7	3	2	3	2	0	0	3	3	5	2	4	0	1	1	3	0	1	4	7			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr11:108031665C>T	ENST00000278612.8	-	17	4253	c.4148G>A	c.(4147-4149)cGt>cAt	p.R1383H		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	1383					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	p.R1383H(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		ACTAGAAGGACGAGAGTTTCG	0.333													28	89					0	0	0.706142	0	0	T	108031665	C	T	108031665	3	4	51	1	0	0	0	0	1	0	0	0	10613	536	19	1	143	1	NPAT	11	108031665	Missense_Mutation	SNP	C	TCGA-EJ-5514-01A-01D-1576-08	52328022	108031665	26974851	32	2588											
ROBO4	54538	broad.mit.edu	37	chr11	124756546	124756546	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accattggctaaggagccctCgctgggggtgggggtgaggc	6	7	19	9	1	0	1	0	1	0	0	1	2	0	2	2	7	1	2	2	7	1	2			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr11:124756546C>T	ENST00000306534.3	-	16	3093	c.2608G>A	c.(2608-2610)Gag>Aag	p.E870K	RP11-664I21.5_ENST00000524453.1_RNA|ROBO4_ENST00000533054.1_Missense_Mutation_p.E725K	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	870					angiogenesis|cell differentiation	integral to membrane	receptor activity	p.E870K(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		AAGGAGCCCTCGCTGGGGGTG	0.667													14	33					0	0	0.479597	0	0	T	124756546	C	T	124756546	3	4	51	1	0	0	0	0	1	0	0	0	13568	893	31	1	427	1	ROBO4	11	124756546	Missense_Mutation	SNP	C	TCGA-EJ-5514-01A-01D-1576-08	16724881	124756546	10249970	33	2589											
ATP2B1	490	broad.mit.edu	37	chr12	90020309	90020309	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttttggcaaatttgcttTctttttatctttttcatcac	6	24	3	8	0	4	0	2	0	2	0	4	0	4	0	0	1	1	2	0	1	2	10			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr12:90020309T>C	ENST00000428670.3	-	8	1507	c.1051A>G	c.(1051-1053)Aaa>Gaa	p.K351E	ATP2B1_ENST00000348959.3_Missense_Mutation_p.K351E|ATP2B1_ENST00000261173.2_Missense_Mutation_p.K351E|ATP2B1_ENST00000359142.3_Missense_Mutation_p.K351E|ATP2B1_ENST00000393164.2_Missense_Mutation_p.K94E			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	351					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	p.K351E(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						AAATTTGCTTTCTTTTTATCT	0.373													21	190					0	0	0.575678	0	0	C	90020309	T	C	90020309	3	2	51	1	0	0	0	0	1	0	0	0	1138	1792	62	3	2825	3	ATP2B1	12	90020309	Missense_Mutation	SNP	T	TCGA-EJ-5514-01A-01D-1576-08		90020309	43831586	34	2590											
PDS5B	23047	broad.mit.edu	37	chr13	33252986	33252986	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcaggtttaatgatatccAtgtaccaatccgcctggaat	12	13	7	9	1	1	1	1	1	0	0	3	2	3	2	4	2	1	2	4	2	6	5			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr13:33252986A>G	ENST00000315596.10	+	10	1163	c.977A>G	c.(976-978)cAt>cGt	p.H326R		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	326				H -> N (in Ref. 8; AAH39256).	cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding	p.H326R(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		AATGATATCCATGTACCAATC	0.333													17	84					0	0	0.500413	0	0	G	33252986	A	G	33252986	3	3	51	1	0	0	0	0	1	0	0	0	11739	217	8	3	1011	3	PDS5B	13	33252986	Missense_Mutation	SNP	A	TCGA-EJ-5514-01A-01D-1576-08		33252986	81916892	35	2591											
CHD8	57680	broad.mit.edu	37	chr14	21871248	21871248	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagctgtaagattaataccAagtccaccagcccgggtaca	13	7	9	12	1	0	1	0	0	0	1	1	1	1	1	4	1	4	4	4	1	5	4			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr14:21871248A>G	ENST00000399982.2	-	17	3706	c.3642T>C	c.(3640-3642)ctT>ctC	p.L1214L	CHD8_ENST00000557364.1_Silent_p.L1214L|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Silent_p.L935L	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1214	Helicase C-terminal.				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	p.L1214L(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GATTAATACCAAGTCCACCAG	0.483													3	89					0	0	0.115264	0	0	G	21871248	A	G	21871248	2	3	51	1	0	0	0	0	0	0	0	1	3353	117	5	3		3	CHD8	14	21871248	Silent	SNP	A	TCGA-EJ-5514-01A-01D-1576-08		21871248	85478292	36	2592											
GANC	2595	broad.mit.edu	37	chr15	42602622	42602622	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attttctggctgaatgcctcGgaaacactggtggagatcaa	11	11	11	8	1	2	2	1	1	1	1	3	4	2	3	1	4	2	1	1	4	3	2			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr15:42602622G>A	ENST00000318010.8	+	9	1104	c.864G>A	c.(862-864)tcG>tcA	p.S288S	GANC_ENST00000566442.1_Silent_p.S288S	NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	288					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity	p.S288S(2)		breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		TGAATGCCTCGGAAACACTGG	0.418													36	70					0	0	0.779181	0	0	A	42602622	G	A	42602622	2	1	51	1	0	0	0	0	0	0	0	1	6274	1103	39	1		1	GANC	15	42602622	Silent	SNP	G	TCGA-EJ-5514-01A-01D-1576-08		42602622	59928770	37	2593											
USP31	57478	broad.mit.edu	37	chr16	23080918	23080918	+	Frame_Shift_Del	DEL	T	T	-																															cgctggacacttctcacaaaTggtcgagttgaaaagcctcc																										TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr16:23080918delT	ENST00000219689.7	-	16	2507	c.2508delA	c.(2506-2508)ccfs	p.P836fs	USP31_ENST00000567975.1_Frame_Shift_Del_p.P129fs	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	836	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		TTCTCACAAATGGTCGAGTTG	0.443													12	49	---	---	---	---						-	23080918	T	-	23080918	7	5	51	1	0	1	0	1	0	0	0	0	17122	1451	51	0	1554	0	USP31	16	23080918	Frame_Shift_Del	DEL	T	TCGA-EJ-5514-01A-01D-1576-08		23080918	67273835	38	2594											
CACNG3	10368	broad.mit.edu	37	chr16	24373178	24373178	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaacaggcgcaccacgccCgtctgaactgacctctgacc	9	5	9	18	3	2	3	0	3	2	0	2	3	2	3	5	1	2	1	5	1	2	0			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr16:24373178C>T	ENST00000005284.3	+	4	2144	c.942C>T	c.(940-942)ccC>ccT	p.P314P		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	314					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.P314P(1)		NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		GCACCACGCCCGTCTGAACTG	0.552													27	72					0	0	0.706142	0	0	T	24373178	C	T	24373178	2	4	51	1	0	0	0	0	0	0	0	1	2576	639	23	1		1	CACNG3	16	24373178	Silent	SNP	C	TCGA-EJ-5514-01A-01D-1576-08	1292260	24373178	65981575	39	2595											
ZKSCAN2	342357	broad.mit.edu	37	chr16	25251248	25251248	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acatgaacttcccgatgtttGgtaagaacagaactcttact	13	12	7	9	1	1	3	0	1	1	2	2	4	2	3	1	1	4	2	1	1	5	4			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr16:25251248G>T	ENST00000328086.7	-	7	3596	c.2793C>A	c.(2791-2793)acC>acA	p.T931T		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	931					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T931T(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		CCCGATGTTTGGTAAGAACAG	0.463													4	195					0.150653	0.154958	0.150653	1	0	T	25251248	G	T	25251248	2	4	51	1	0	0	0	0	0	0	0	1	17745	1335	47	4		4	ZKSCAN2	16	25251248	Silent	SNP	G	TCGA-EJ-5514-01A-01D-1576-08	878070	25251248	65103505	40	2596											
OSGIN1	29948	broad.mit.edu	37	chr16	83998851	83998851	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccctcttccaggtgagcggcTtcctgaccaggaaccaggcc	7	7	11	16	1	1	2	0	2	1	0	3	3	3	3	6	4	2	1	6	4	1	2			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr16:83998851T>C	ENST00000343939.2	+	7	1305	c.922T>C	c.(922-924)Ttc>Ctc	p.F308L	OSGIN1_ENST00000361711.3_Missense_Mutation_p.F225L|OSGIN1_ENST00000393306.1_Missense_Mutation_p.F225L			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	308					cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity	p.F308L(1)		autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						GGTGAGCGGCTTCCTGACCAG	0.692													21	69					0	0	0.654019	0	0	C	83998851	T	C	83998851	3	2	51	1	0	0	0	0	1	0	0	0	11336	1609	56	3	948	3	OSGIN1	16	83998851	Missense_Mutation	SNP	T	TCGA-EJ-5514-01A-01D-1576-08	58747603	83998851	6355902	41	2597											
FXR2	9513	broad.mit.edu	37	chr17	7495581	7495581	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctgcctaccttctgtccTgaaagagagtcttctgaggg	7	12	11	11	0	3	3	0	2	3	1	4	4	4	3	4	1	3	0	4	1	2	3			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr17:7495581T>C	ENST00000250113.7	-	16	2251	c.1917A>G	c.(1915-1917)tcA>tcG	p.S639S	MPDU1_ENST00000423172.2_Intron|FXR2_ENST00000573057.1_5'UTR	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	639						cytosolic large ribosomal subunit	protein binding|RNA binding	p.S639S(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		CCTTCTGTCCTGAAAGAGAGT	0.507													3	144					0	0	0.115264	0	0	C	7495581	T	C	7495581	2	2	51	1	0	0	0	0	0	0	0	1	6151	1567	55	3		3	FXR2	17	7495581	Silent	SNP	T	TCGA-EJ-5514-01A-01D-1576-08		7495581	73699629	42	2598											
TP53	7157	broad.mit.edu	37	chr17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attctcttcctctgtgcgccGgtctctcccaggacaggcac	5	11	9	16	2	3	0	0	0	3	0	7	1	5	1	3	3	1	1	3	3	0	2	rs28934574		TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr17:7577094G>A	ENST00000420246.2	-	8	976	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000269305.4_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R282W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).		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.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCTGTGCGCCGGTCTCTCCCA	0.557		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)			24	38					0	0	0.654019	0	0	A	7577094	G	A	7577094	3	1	51	1	0	0	0	0	1	0	0	0	16442	1115	39	1	442	1	TP53	17	7577094	Missense_Mutation	SNP	G	TCGA-EJ-5514-01A-01D-1576-08	81513	7577094	73618116	43	2599											
STAT5B	6777	broad.mit.edu	37	chr17	40362212	40362212	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aatcaaacttccaagcaatgGtgatgccgccaatttctgag	13	10	8	10	1	2	2	1	2	1	0	3	2	3	2	3	1	3	1	3	1	5	2			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr17:40362212G>A	ENST00000293328.3	-	15	2051	c.1883C>T	c.(1882-1884)aCc>aTc	p.T628I		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	628	SH2.				2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity	p.T628I(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	CCAAGCAATGGTGATGCCGCC	0.428													3	86					0	0	0.115264	0	0	A	40362212	G	A	40362212	3	1	51	1	0	0	0	0	1	0	0	0	15325	1261	44	2	500	2	STAT5B	17	40362212	Missense_Mutation	SNP	G	TCGA-EJ-5514-01A-01D-1576-08	32785118	40362212	40832998	44	2600											
MRC2	9902	broad.mit.edu	37	chr17	60742200	60742200	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtccttgctcctgggggcccGcaccagcaacatatccaagc	8	7	10	16	1	0	0	0	0	0	0	3	0	3	0	5	2	4	3	5	2	3	2			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr17:60742200G>A	ENST00000303375.5	+	2	812	c.410G>A	c.(409-411)cGc>cAc	p.R137H		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	137	Ricin B-type lectin.				endocytosis	integral to membrane	receptor activity|sugar binding	p.R137H(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CTGGGGGCCCGCACCAGCAAC	0.617													4	121					0	0	0.150653	0	0	A	60742200	G	A	60742200	3	1	51	1	0	0	0	0	1	0	0	0	9807	1087	38	1	416	1	MRC2	17	60742200	Missense_Mutation	SNP	G	TCGA-EJ-5514-01A-01D-1576-08	20379988	60742200	20453010	45	2601											
GGA3	23163	broad.mit.edu	37	chr17	73235138	73235138	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatgcggaagccgtttttatCgtaggctgtcacaggaaggg	9	10	15	7	3	1	0	1	0	0	0	2	3	1	2	1	4	2	3	1	4	4	4			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr17:73235138C>T	ENST00000245541.6	-	15	2023	c.1807G>A	c.(1807-1809)Gat>Aat	p.D603N	GGA3_ENST00000582717.1_Missense_Mutation_p.D531N|GGA3_ENST00000582486.1_Missense_Mutation_p.D531N|GGA3_ENST00000538886.1_Missense_Mutation_p.D481N|GGA3_ENST00000351904.7_Missense_Mutation_p.D570N|GGA3_ENST00000578348.1_Missense_Mutation_p.D481N	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3	603	GAE.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding	p.D603N(1)		breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			CCGTTTTTATCGTAGGCTGTC	0.592											OREG0024729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	27					0	0	0.411799	0	0	T	73235138	C	T	73235138	3	4	51	1	0	0	0	0	1	0	0	0	6396	884	31	1	464	1	GGA3	17	73235138	Missense_Mutation	SNP	C	TCGA-EJ-5514-01A-01D-1576-08	12492938	73235138	7960072	46	2602											
TRIM65	201292	broad.mit.edu	37	chr17	73887232	73887232	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taggagacgcccagtgtcacCgagtggtctgacgcgcgcac	8	6	14	13	5	2	2	1	1	1	1	2	4	2	2	2	2	0	1	2	2	1	1			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr17:73887232C>T	ENST00000269383.3	-	6	1247	c.1182G>A	c.(1180-1182)tcG>tcA	p.S394S		NM_001256124.1|NM_173547.3	NP_001243053.1|NP_775818.2	Q6PJ69	TRI65_HUMAN	tripartite motif containing 65	394	B30.2/SPRY.					intracellular	zinc ion binding	p.S394S(1)		endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12			Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCAGTGTCACCGAGTGGTCTG	0.692													4	88					0	0	0.150653	0	0	T	73887232	C	T	73887232	2	4	51	1	0	0	0	0	0	0	0	1	16600	639	23	1		1	TRIM65	17	73887232	Silent	SNP	C	TCGA-EJ-5514-01A-01D-1576-08	652094	73887232	7307978	47	2603											
GIPC3	126326	broad.mit.edu	37	chr19	3589510	3589510	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agtgaccagcgggagggagaCcctgcggcttcgttctgggg	6	7	18	10	3	1	2	0	1	1	1	2	4	1	3	2	5	2	2	2	5	0	2			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr19:3589510C>A	ENST00000322315.5	+	4	707	c.662C>A	c.(661-663)aCc>aAc	p.T221N		NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	221								p.T221N(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGAGGGAGACCCTGCGGCTT	0.612													10	81					3.86212e-05	4.63454e-05	0.361761	1	0	A	3589510	C	A	3589510	3	1	51	1	0	0	0	0	1	0	0	0	6436	507	18	4	676	4	GIPC3	19	3589510	Missense_Mutation	SNP	C	TCGA-EJ-5514-01A-01D-1576-08		3589510	55539473	48	2604											
SAFB2	9667	broad.mit.edu	37	chr19	5598870	5598870	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctttcgatttatccatcacGaccgtccgctccattcctct	6	14	4	17	4	2	0	1	0	1	0	7	2	6	0	6	0	0	1	6	0	1	4	rs149716077		TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr19:5598870G>A	ENST00000252542.4	-	13	1980	c.1716C>T	c.(1714-1716)gtC>gtT	p.V572V		NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	572					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding	p.V572V(1)		endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		TATCCATCACGACCGTCCGCT	0.507													30	75					0	0	0.750413	0	0	A	5598870	G	A	5598870	2	1	51	1	0	0	0	0	0	0	0	1	13859	1045	37	1		1	SAFB2	19	5598870	Silent	SNP	G	TCGA-EJ-5514-01A-01D-1576-08	2009360	5598870	53530113	49	2605											
ZNF181	339318	broad.mit.edu	37	chr19	35232275	35232275	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatgaactgtggaaagtcttTtagtcgtgtgtcccatctta	9	16	9	7	1	2	1	0	1	2	0	4	2	3	2	1	1	1	0	1	1	5	4			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr19:35232275T>C	ENST00000392232.3	+	6	1289	c.1121T>C	c.(1120-1122)tTt>tCt	p.F374S	ZNF181_ENST00000492450.1_Missense_Mutation_p.F330S|ZNF181_ENST00000459757.1_Missense_Mutation_p.F329S			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	330					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F266S(1)		endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			GGAAAGTCTTTTAGTCGTGTG	0.398													3	168					0	0	0.150653	0	0	C	35232275	T	C	35232275	3	2	51	1	0	0	0	0	1	0	0	0	17807	1841	64	3	1003	3	ZNF181	19	35232275	Missense_Mutation	SNP	T	TCGA-EJ-5514-01A-01D-1576-08	29633405	35232275	23896708	50	2606											
TRAPPC6A	79090	broad.mit.edu	37	chr19	45668125	45668125	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcccacctggtgattggtgcGcaggctgtccatctgcttct	4	13	11	13	1	2	1	0	1	2	0	4	1	4	1	3	3	2	3	3	3	0	2			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr19:45668125G>A	ENST00000006275.4	-	3	316	c.298C>T	c.(298-300)Cgc>Tgc	p.R100C	TRAPPC6A_ENST00000588062.1_Missense_Mutation_p.A63V|TRAPPC6A_ENST00000585934.1_Missense_Mutation_p.R86C|TRAPPC6A_ENST00000592647.1_Missense_Mutation_p.A77V	NM_024108.1	NP_077013.1	O75865	TPC6A_HUMAN	trafficking protein particle complex 6A	86				SFPLLLPMASGLQYLEEAPKFLAFT -> KLSPPPPDGLWP AVSGGSTQVPGLH (in Ref. 1; AAF28967).	vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus	guanylate cyclase activity|heme binding	p.R100C(1)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	8		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00872)|GBM - Glioblastoma multiforme(486;0.233)		TGATTGGTGCGCAGGCTGTCC	0.647													4	158					0	0	0.184627	0	0	A	45668125	G	A	45668125	3	1	51	1	0	0	0	0	1	0	0	0	16524	1087	38	1	239	1	TRAPPC6A	19	45668125	Missense_Mutation	SNP	G	TCGA-EJ-5514-01A-01D-1576-08	10435850	45668125	13460858	51	2607											
ZNFX1	57169	broad.mit.edu	37	chr20	47864642	47864642	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgatgatttcaatctcttctAgccgctgttttatgctagtt	7	19	7	8	1	3	2	1	2	2	0	4	2	3	2	1	0	2	4	1	0	4	7			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr20:47864642A>G	ENST00000396105.1	-	14	5165	c.4919T>C	c.(4918-4920)cTa>cCa	p.L1640P	ZNFX1_ENST00000371752.1_Missense_Mutation_p.L1640P|ZNFX1_ENST00000371754.4_Intron	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1640							metal ion binding	p.L1640P(2)		cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AATCTCTTCTAGCCGCTGTTT	0.507													42	82					0	0	0.847076	0	0	G	47864642	A	G	47864642	3	3	51	1	0	0	0	0	1	0	0	0	18247	420	15	3	841	3	ZNFX1	20	47864642	Missense_Mutation	SNP	A	TCGA-EJ-5514-01A-01D-1576-08		47864642	15160878	52	2608											
SHOX	6473	broad.mit.edu	37	chrX	601572	601572	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaggtttggttccagaaccGgagagccaagtgccgcaaac	12	6	12	11	2	0	2	0	0	0	2	1	3	1	2	4	3	4	3	4	3	4	2			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chrX:601572G>A	ENST00000381578.1	+	4	1194	c.503G>A	c.(502-504)cGg>cAg	p.R168Q	SHOX_ENST00000554971.1_Missense_Mutation_p.R168Q|SHOX_ENST00000334060.3_Missense_Mutation_p.R168Q|SHOX_ENST00000381575.1_Missense_Mutation_p.R168Q	NM_000451.3	NP_000442.1	O15266	SHOX_HUMAN	short stature homeobox	168			R -> W (in LMD).		skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R168Q(1)		endometrium(3)|lung(9)|prostate(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TTCCAGAACCGGAGAGCCAAG	0.592													45	137					0	0	0.870114	0	0	A	601572	G	A	601572	3	1	51	1	0	0	0	0	1	0	0	0	14343	1116	39	1	513	1	SHOX	23	601572	Missense_Mutation	SNP	G	TCGA-EJ-5514-01A-01D-1576-08		601572	154668988	53	2609											
ZBED1	9189	broad.mit.edu	37	chrX	2407936	2407936	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcagggagcacgccttcacGatgtccttgccatagttggt	8	10	12	11	2	1	0	1	0	0	0	2	2	2	1	3	2	3	3	3	2	1	4			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chrX:2407936G>A	ENST00000381223.4	-	2	1028	c.825C>T	c.(823-825)atC>atT	p.I275I	ZBED1_ENST00000381218.3_Silent_p.I275I|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Silent_p.I275I	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	275						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity	p.I275I(1)		endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ACGCCTTCACGATGTCCTTGC	0.627													72	189					0	0	0.870114	0	0	A	2407936	G	A	2407936	2	1	51	1	0	0	0	0	0	0	0	1	17577	1048	37	1		1	ZBED1	23	2407936	Silent	SNP	G	TCGA-EJ-5514-01A-01D-1576-08	1806364	2407936	152862624	54	2610											
CCDC22	28952	broad.mit.edu	37	chrX	49099406	49099406	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaattcgggaccagctggCactgccttgggtcccgcccc	6	7	11	17	2	0	0	0	0	0	0	2	1	1	1	6	3	2	2	6	3	1	2			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chrX:49099406C>A	ENST00000376227.3	+	4	586	c.416C>A	c.(415-417)gCa>gAa	p.A139E	CCDC22_ENST00000496651.1_3'UTR	NM_014008.3	NP_054727.1	O60826	CCD22_HUMAN	coiled-coil domain containing 22	139								p.A139E(2)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	18						GACCAGCTGGCACTGCCTTGG	0.587													4	5					0.00909568	0.00977446	0.150653	1	0	A	49099406	C	A	49099406	3	1	51	1	0	0	0	0	1	0	0	0	2816	710	25	4	430	4	CCDC22	23	49099406	Missense_Mutation	SNP	C	TCGA-EJ-5514-01A-01D-1576-08	46691470	49099406	106171154	55	2611											
MID2	11043	broad.mit.edu	37	chrX	107159358	107159358	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggggttagattatttaacAggtgtgaaaatactgtgctt	12	14	12	3	0	0	2	0	1	0	1	0	3	0	2	0	3	3	2	0	3	6	6			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chrX:107159358A>G	ENST00000262843.6	+	6	1748	c.1201_splice	c.e6+1	p.T400_splice	MID2_ENST00000443968.2_Splice_Site_p.T400_splice|RP6-191P20.4_ENST00000430140.1_RNA	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	400	Fibronectin type-III.					centrosome|microtubule	ligase activity|zinc ion binding	p.T380T(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						ATTATTTAACAGGTGTGAAAA	0.274													3	196					0	0	0.150653	0	0	G	107159358	A	G	107159358	5	3	51	1	0	0	0	0	0	0	1	0	9626	202	7	3	1222	3	MID2	23	107159358	Splice_Site	SNP	A	TCGA-EJ-5514-01A-01D-1576-08	58059952	107159358	48111202	56	2612											
SPANXN1	494118	broad.mit.edu	37	chrX	144337274	144337274	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaatattcaacagtattagcGttttgctacaggaaagctaa	15	12	8	6	1	1	0	1	0	0	0	1	2	1	1	0	1	5	4	0	1	8	8			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chrX:144337274G>T	ENST00000370493.3	+	2	918	c.159G>T	c.(157-159)gcG>gcT	p.A53A		NM_001009614.2	NP_001009614.1	Q5VSR9	SPXN1_HUMAN	SPANX family, member N1	53								p.A53A(4)		endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					CAGTATTAGCGTTTTGCTACA	0.433													3	123					0.115264	0.122044	0.115264	1	0	T	144337274	G	T	144337274	2	4	51	1	0	0	0	0	0	0	0	1	15046	1132	40	4		4	SPANXN1	23	144337274	Silent	SNP	G	TCGA-EJ-5514-01A-01D-1576-08	37177916	144337274	10933286	57	2613											
SLFNL1	200172	broad.mit.edu	37	chr1	41483497	41483497	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctactcccacgagcaggctgCcgccctcgctgttgaggaag	7	7	12	15	3	0	1	0	1	0	0	2	3	1	2	3	2	3	4	3	2	2	2			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr1:41483497C>T	ENST00000359345.1	-	2	3343	c.767G>A	c.(766-768)gGc>gAc	p.G256D	SLFNL1_ENST00000372611.1_Missense_Mutation_p.G197D|SLFNL1_ENST00000397197.2_Missense_Mutation_p.G256D|SLFNL1_ENST00000439569.2_Missense_Mutation_p.G256D|SLFNL1_ENST00000372613.2_Missense_Mutation_p.G256D|SLFNL1_ENST00000302946.8_Missense_Mutation_p.G256D	NM_144990.3	NP_659427.3	Q499Z3	SLNL1_HUMAN	schlafen-like 1	256							ATP binding	p.G256D(1)		endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)				GAGCAGGCTGCCGCCCTCGCT	0.667													3	50					0	0	1	0	0	T	41483497	C	T	41483497	3	4	52	1	0	0	0	0	1	0	0	0	14792	739	26	2	468	2	SLFNL1	1	41483497	Missense_Mutation	SNP	C	TCGA-EJ-5515-01A-01D-1576-08		41483497	207767124	1	2614											
DPH2	1802	broad.mit.edu	37	chr1	44437269	44437269	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgacccagaccttgaccCagacctgagtcggctgctct	7	8	9	17	1	1	5	0	3	1	2	2	5	1	5	5	1	1	2	5	1	0	1			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr1:44437269C>G	ENST00000255108.3	+	4	867	c.695C>G	c.(694-696)cCa>cGa	p.P232R	DPH2_ENST00000529729.1_3'UTR|DPH2_ENST00000412950.2_Missense_Mutation_p.P97R|DPH2_ENST00000396758.2_Intron	NM_001384.4	NP_001375.2	Q9BQC3	DPH2_HUMAN	DPH2 homolog (S. cerevisiae)	232					peptidyl-diphthamide biosynthetic process from peptidyl-histidine	cytoplasm				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				GACCTTGACCCAGACCTGAGT	0.622													4	141					0	0	1	0	0	G	44437269	C	G	44437269	3	3	52	1	0	0	0	0	1	0	0	0	4747	594	21	4	709	4	DPH2	1	44437269	Missense_Mutation	SNP	C	TCGA-EJ-5515-01A-01D-1576-08	2953772	44437269	204813352	2	2615											
SYT11	23208	broad.mit.edu	37	chr1	155838359	155838359	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acggcatcgggtgaagaccaGagtgctgcggaagaccctgg	10	5	16	10	3	0	4	0	1	0	3	1	5	0	5	2	4	2	2	2	4	2	0			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr1:155838359G>C	ENST00000368324.4	+	2	891	c.638G>C	c.(637-639)aGa>aCa	p.R213T	SYT11_ENST00000539162.1_Intron	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	213	C2 1.					cell junction|synaptic vesicle membrane	protein binding|transporter activity	p.R213T(1)		breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			GTGAAGACCAGAGTGCTGCGG	0.572													3	76					0	0	1	0	0	C	155838359	G	C	155838359	3	2	52	1	0	0	0	0	1	0	0	0	15524	942	33	4	644	4	SYT11	1	155838359	Missense_Mutation	SNP	G	TCGA-EJ-5515-01A-01D-1576-08	111401090	155838359	93412262	3	2616											
KIRREL	55243	broad.mit.edu	37	chr1	158063224	158063224	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtattcttcctctaccggCgccgcaaaggcagtgagtat	8	11	11	11	3	2	1	0	1	2	0	3	1	3	1	3	3	1	4	3	3	4	5			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr1:158063224C>A	ENST00000368172.1	+	8	1021	c.1009C>A	c.(1009-1011)Cgc>Agc	p.R337S	KIRREL_ENST00000392272.2_Missense_Mutation_p.R420S|KIRREL_ENST00000368173.3_Missense_Mutation_p.R539S|KIRREL_ENST00000360089.4_Missense_Mutation_p.R359S|KIRREL_ENST00000359209.6_Missense_Mutation_p.R523S|KIRREL_ENST00000416935.2_Missense_Mutation_p.R423S			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	523	Ig-like C2-type 4.					integral to membrane		p.R359S(1)|p.R539S(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					CCTCTACCGGCGCCGCAAAGG	0.602													3	92					1	1	1	1	0	A	158063224	C	A	158063224	3	1	52	1	0	0	0	0	1	0	0	0	8367	768	27	4	1613	4	KIRREL	1	158063224	Missense_Mutation	SNP	C	TCGA-EJ-5515-01A-01D-1576-08	2224865	158063224	91187397	4	2617											
RBBP5	5929	broad.mit.edu	37	chr1	205072996	205072996	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taggcttaccttgccttttgCgtttcccgtataaatatatt	8	18	6	9	2	0	0	0	0	0	0	1	0	1	0	3	1	3	3	3	1	7	11			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr1:205072996C>T	ENST00000264515.6	-	5	652	c.511G>A	c.(511-513)Gca>Aca	p.A171T	RBBP5_ENST00000367164.1_Missense_Mutation_p.A171T	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	171					histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding			cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			TTGCCTTTTGCGTTTCCCGTA	0.388													4	153					0	0	1	0	0	T	205072996	C	T	205072996	3	4	52	1	0	0	0	0	1	0	0	0	13154	768	27	1	1145	1	RBBP5	1	205072996	Missense_Mutation	SNP	C	TCGA-EJ-5515-01A-01D-1576-08	47009772	205072996	44177625	5	2618											
EIF5B	9669	broad.mit.edu	37	chr2	99985894	99985894	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgctgctgtagaagttaTggaacaaggagtaccagaaa	15	9	12	5	0	0	2	0	0	0	2	0	4	0	4	1	2	4	5	1	2	7	3			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr2:99985894T>C	ENST00000289371.5	+	8	1629	c.1427T>C	c.(1426-1428)aTg>aCg	p.M476T		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	476					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity	p.M476T(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GTAGAAGTTATGGAACAAGGA	0.353													7	62					0	0	1	0	0	C	99985894	T	C	99985894	3	2	52	1	0	0	0	0	1	0	0	0	5072	1464	51	3	1457	3	EIF5B	2	99985894	Missense_Mutation	SNP	T	TCGA-EJ-5515-01A-01D-1576-08		99985894	143213479	6	2619											
SLC6A18	348932	broad.mit.edu	37	chr5	1239617	1239617	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacgcagccacccagatatTcttctctctgtccctggcct	6	11	8	16	1	3	1	0	0	3	1	5	2	4	2	4	2	1	1	4	2	1	3			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr5:1239617T>C	ENST00000324642.3	+	6	908	c.785T>C	c.(784-786)tTc>tCc	p.F262S	SLC6A18_ENST00000296821.4_Missense_Mutation_p.F257S	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	262					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			ACCCAGATATTCTTCTCTCTG	0.572													3	150					0	0	1	0	0	C	1239617	T	C	1239617	3	2	52	1	0	0	0	0	1	0	0	0	14736	1783	62	3	807	3	SLC6A18	5	1239617	Missense_Mutation	SNP	T	TCGA-EJ-5515-01A-01D-1576-08		1239617	179675643	7	2620											
FZD9	8326	broad.mit.edu	37	chr7	72849476	72849476	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgaccctgcgcaaggtggCgggtgatgagctgactgggc	6	7	17	11	2	0	4	0	4	0	0	0	4	0	4	2	4	2	2	2	4	1	0			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr7:72849476C>T	ENST00000344575.3	+	1	1368	c.1139C>T	c.(1138-1140)gCg>gTg	p.A380V		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled family receptor 9	380					B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding	p.A380V(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				CGCAAGGTGGCGGGTGATGAG	0.667													4	71					0	0	1	0	0	T	72849476	C	T	72849476	3	4	52	1	0	0	0	0	1	0	0	0	6172	768	27	1	1141	1	FZD9	7	72849476	Missense_Mutation	SNP	C	TCGA-EJ-5515-01A-01D-1576-08		72849476	86289187	8	2621											
HGF	3082	broad.mit.edu	37	chr7	81359036	81359036	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccctgtagccttctccttGaccttggatgcattcagttg	5	14	9	13	0	2	1	1	1	1	0	3	2	2	2	5	1	2	3	5	1	1	6			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr7:81359036G>T	ENST00000222390.5	-	8	1151	c.925C>A	c.(925-927)Caa>Aaa	p.Q309K	HGF_ENST00000457544.2_Missense_Mutation_p.Q304K	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	309	Kringle 3.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	p.Q309K(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						CCTTCTCCTTGACCTTGGATG	0.398													10	130					0.000442599	0.00056708	1	1	0	T	81359036	G	T	81359036	3	4	52	1	0	0	0	0	1	0	0	0	7126	1299	45	4	1305	4	HGF	7	81359036	Missense_Mutation	SNP	G	TCGA-EJ-5515-01A-01D-1576-08	8509560	81359036	77779627	9	2622											
PCLO	27445	broad.mit.edu	37	chr7	82474612	82474612	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgccgtgcttctttttgCtcactgagggggaccctggt	3	14	13	11	1	2	1	1	1	1	0	2	2	2	2	2	3	4	3	2	3	0	3			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr7:82474612C>T	ENST00000423517.2	-	13	14358	c.14021G>A	c.(14020-14022)aGc>aAc	p.S4674N	PCLO_ENST00000426442.2_5'UTR|PCLO_ENST00000333891.8_Missense_Mutation_p.S4674N	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4562					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.S4674N(2)		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						CTTCTTTTTGCTCACTGAGGG	0.468													3	29					0	0	1	0	0	T	82474612	C	T	82474612	3	4	52	1	0	0	0	0	1	0	0	0	11630	797	28	2	1476	2	PCLO	7	82474612	Missense_Mutation	SNP	C	TCGA-EJ-5515-01A-01D-1576-08	1115576	82474612	76664051	10	2623											
FBXO10	26267	broad.mit.edu	37	chr9	37516001	37516001	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttttgccctggaagatgaTgttttcctgcaccagggcct	6	13	12	10	0	0	2	0	1	0	1	1	3	1	3	4	3	2	3	4	3	1	4			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr9:37516001T>C	ENST00000432825.2	-	10	2644	c.2596A>G	c.(2596-2598)Atc>Gtc	p.I866V	RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Missense_Mutation_p.I391V	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	866						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		TGGAAGATGATGTTTTCCTGC	0.522													4	141					0	0	1	0	0	C	37516001	T	C	37516001	3	2	52	1	0	0	0	0	1	0	0	0	5759	1464	51	3	282	3	FBXO10	9	37516001	Missense_Mutation	SNP	T	TCGA-EJ-5515-01A-01D-1576-08		37516001	103697430	11	2624											
RNF20	56254	broad.mit.edu	37	chr9	104314514	104314514	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcctgagatataagcggaaAttgagagaagcccagtctga	14	8	12	7	1	1	4	0	3	1	2	2	7	2	5	2	1	2	0	2	1	4	3			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr9:104314514A>T	ENST00000389120.3	+	12	1590	c.1500A>T	c.(1498-1500)aaA>aaT	p.K500N		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	500					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	p.K500N(1)		breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		ATAAGCGGAAATTGAGAGAAG	0.448													7	105					0	0	1	0	0	T	104314514	A	T	104314514	3	4	52	1	0	0	0	0	1	0	0	0	13525	98	4	5	1542	5	RNF20	9	104314514	Missense_Mutation	SNP	A	TCGA-EJ-5515-01A-01D-1576-08	66798513	104314514	36898917	12	2625											
OR13C2	392376	broad.mit.edu	37	chr9	107367082	107367082	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acatggatataattttgtcgGtagcatccaagtcatccgaa	13	12	8	8	2	1	0	1	0	0	0	4	2	3	1	2	2	1	2	2	2	5	5			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr9:107367082G>A	ENST00000542196.1	-	1	869	c.827C>T	c.(826-828)aCc>aTc	p.T276I		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T276I(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						AATTTTGTCGGTAGCATCCAA	0.408													8	154					0	0	1	0	0	A	107367082	G	A	107367082	3	1	52	1	0	0	0	0	1	0	0	0	10982	1261	44	2	132	2	OR13C2	9	107367082	Missense_Mutation	SNP	G	TCGA-EJ-5515-01A-01D-1576-08	3052568	107367082	33846349	13	2626											
RC3H2	54542	broad.mit.edu	37	chr9	125613481	125613481	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caactgatcattttgagaacTgataccaagctgtatgtcca	13	12	7	9	0	1	3	1	3	0	1	2	4	2	3	2	0	4	2	2	0	5	4			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr9:125613481T>C	ENST00000373670.1	-	19	3859	c.3259A>G	c.(3259-3261)Agt>Ggt	p.S1087G	RC3H2_ENST00000357244.2_Missense_Mutation_p.S1087G			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	1087						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding	p.S1087G(1)		breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TTTTGAGAACTGATACCAAGC	0.363													7	129					0	0	1	0	0	C	125613481	T	C	125613481	3	2	52	1	0	0	0	0	1	0	0	0	13219	1580	55	3	324	3	RC3H2	9	125613481	Missense_Mutation	SNP	T	TCGA-EJ-5515-01A-01D-1576-08	18246399	125613481	15599950	14	2627											
ARHGAP22	58504	broad.mit.edu	37	chr10	49654442	49654442	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgccattccttttactttgGggccctggcaccttttgccc	3	15	8	15	0	0	0	0	0	0	0	1	0	1	0	5	3	3	1	5	3	1	6			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr10:49654442G>T	ENST00000249601.4	-	10	2385	c.2089C>A	c.(2089-2091)Cca>Aca	p.P697T	ARHGAP22_ENST00000435790.2_Missense_Mutation_p.P703T|ARHGAP22_ENST00000417912.2_Missense_Mutation_p.P713T|ARHGAP22_ENST00000374172.1_Missense_Mutation_p.P588T|ARHGAP22_ENST00000477708.2_Missense_Mutation_p.P530T|ARHGAP22_ENST00000374170.1_Missense_Mutation_p.P538T|ARHGAP22_ENST00000417247.2_Missense_Mutation_p.P607T	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	697					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity	p.P697T(1)		endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TTTTACTTTGGGGCCCTGGCA	0.542													3	43					6.4e-05	8.74667e-05	1	1	0	T	49654442	G	T	49654442	3	4	52	1	0	0	0	0	1	0	0	0	869	1232	43	4	11	4	ARHGAP22	10	49654442	Missense_Mutation	SNP	G	TCGA-EJ-5515-01A-01D-1576-08		49654442	85880305	15	2628											
CD248	57124	broad.mit.edu	37	chr11	66082756	66082756	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagttgggataatgggaagCtgggtggcctgggttctgag	7	10	19	5	0	1	1	0	1	1	0	1	3	1	3	1	5	1	4	1	5	2	3			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr11:66082756C>T	ENST00000311330.3	-	1	1759	c.1743G>A	c.(1741-1743)caG>caA	p.Q581Q	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	581	Pro-rich.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding	p.Q581Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	TAATGGGAAGCTGGGTGGCCT	0.632													10	177					0	0	1	0	0	T	66082756	C	T	66082756	2	4	52	1	0	0	0	0	0	0	0	1	3011	796	28	2		2	CD248	11	66082756	Silent	SNP	C	TCGA-EJ-5515-01A-01D-1576-08		66082756	68923760	16	2629											
ACAT1	38	broad.mit.edu	37	chr11	108002646	108002646	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattacaggaaataagatatGtggaacggagttatgtatca	16	12	10	3	1	1	1	1	0	0	1	1	4	1	4	0	3	2	2	0	3	8	6			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr11:108002646G>T	ENST00000265838.4	+	2	176	c.85G>T	c.(85-87)Gtg>Ttg	p.V29L	ACAT1_ENST00000526119.1_3'UTR|ACAT1_ENST00000299355.6_Missense_Mutation_p.V29L	NM_000019.3	NP_000010.1	P24752	THIL_HUMAN	acetyl-CoA acetyltransferase 1	29					acetoacetic acid biosynthetic process|branched chain family amino acid catabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	acetyl-CoA C-acetyltransferase activity|metal ion binding	p.V29L(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|prostate(2)	10		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	Sulfasalazine(DB00795)	AATAAGATATGTGGAACGGAG	0.229													3	55					1	1	1	1	0	T	108002646	G	T	108002646	3	4	52	1	0	0	0	0	1	0	0	0	121	1377	48	4	91	4	ACAT1	11	108002646	Missense_Mutation	SNP	G	TCGA-EJ-5515-01A-01D-1576-08	41919890	108002646	27003870	17	2630											
ROBO4	54538	broad.mit.edu	37	chr11	124766108	124766108	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttaccctggatggaaaccCgggctgcgcggctctcccta	6	8	11	16	3	1	0	0	0	1	0	2	2	1	2	4	4	3	2	4	4	3	2			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr11:124766108C>T	ENST00000306534.3	-	4	1150	c.665G>A	c.(664-666)cGg>cAg	p.R222Q	ROBO4_ENST00000526899.1_5'UTR|ROBO4_ENST00000533054.1_Missense_Mutation_p.R77Q	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	222	Ig-like C2-type 2.				angiogenesis|cell differentiation	integral to membrane	receptor activity	p.R222Q(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GATGGAAACCCGGGCTGCGCG	0.607													3	73					0	0	1	0	0	T	124766108	C	T	124766108	3	4	52	1	0	0	0	0	1	0	0	0	13568	652	23	1	2418	1	ROBO4	11	124766108	Missense_Mutation	SNP	C	TCGA-EJ-5515-01A-01D-1576-08	16763462	124766108	10240408	18	2631											
SLC25A3	5250	broad.mit.edu	37	chr12	98993848	98993848	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttgtggttcctaagcccCgcagtgaatgttcaaagcca	10	11	10	10	1	1	1	1	1	0	0	2	1	2	1	4	1	2	4	4	1	3	4			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr12:98993848C>A	ENST00000188376.5	+	5	1111	c.757C>A	c.(757-759)Cgc>Agc	p.R253S	SLC25A3_ENST00000228318.3_Missense_Mutation_p.R254S|SLC25A3_ENST00000401722.3_Missense_Mutation_p.R253S|SLC25A3_ENST00000549338.1_Missense_Mutation_p.R253S|SLC25A3_ENST00000548847.1_Missense_Mutation_p.R253S|SLC25A3_ENST00000552981.1_Missense_Mutation_p.R253S|SLC25A3_ENST00000551917.1_Missense_Mutation_p.R254S	NM_002635.3|NM_213611.2	NP_002626.1|NP_998776.1	Q00325	MPCP_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3	254					generation of precursor metabolites and energy	integral to plasma membrane|mitochondrial inner membrane	phosphate carrier activity|symporter activity	p.R254S(3)|p.R253S(2)		breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)		TCCTAAGCCCCGCAGTGAATG	0.428													3	63					1	1	1	1	0	A	98993848	C	A	98993848	3	1	52	1	0	0	0	0	1	0	0	0	14548	652	23	4	904	4	SLC25A3	12	98993848	Missense_Mutation	SNP	C	TCGA-EJ-5515-01A-01D-1576-08		98993848	34858047	19	2632											
RTL1	388015	broad.mit.edu	37	chr14	101348187	101348187	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctggcagctccatgacgTcaaagttgaagtgggagaag	11	9	14	7	1	2	3	1	2	1	1	3	4	3	3	1	2	1	4	1	2	3	2			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr14:101348187T>C	ENST00000534062.1	-	1	2997	c.2939A>G	c.(2938-2940)gAc>gGc	p.D980G		NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN	retrotransposon-like 1	980								p.D980G(1)		breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						CTCCATGACGTCAAAGTTGAA	0.557													3	101					0	0	1	0	0	C	101348187	T	C	101348187	3	2	52	1	0	0	0	0	1	0	0	0	13776	1667	58	3	1141	3	RTL1	14	101348187	Missense_Mutation	SNP	T	TCGA-EJ-5515-01A-01D-1576-08		101348187	6001353	20	2633											
CLK3	1198	broad.mit.edu	37	chr15	74914890	74914890	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcaaggtggtggagtgcttGgaccatgccaggtgagcgag	8	7	19	7	1	0	1	0	1	0	0	0	4	0	3	2	6	3	2	2	6	1	1			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr15:74914890G>C	ENST00000395066.3	+	5	1427	c.966G>C	c.(964-966)ttG>ttC	p.L322F	CLK3_ENST00000348245.3_Missense_Mutation_p.W142S|CLK3_ENST00000345005.4_Missense_Mutation_p.L174F|CLK3_ENST00000352989.5_Intron	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	322	Protein kinase.					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.L174F(2)|p.L322F(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						TGGAGTGCTTGGACCATGCCA	0.567													5	114					0	0	1	0	0	C	74914890	G	C	74914890	3	2	52	1	0	0	0	0	1	0	0	0	3561	1339	47	4	984	4	CLK3	15	74914890	Missense_Mutation	SNP	G	TCGA-EJ-5515-01A-01D-1576-08		74914890	27616502	21	2634											
TOX3	27324	broad.mit.edu	37	chr16	52484402	52484402	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcggtcatgtggacgatggaCcgcatgatcagggagggatc	9	8	16	8	3	2	1	2	1	0	0	4	6	2	5	1	5	0	1	1	5	0	0			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr16:52484402C>T	ENST00000219746.9	-	4	749	c.465G>A	c.(463-465)cgG>cgA	p.R155R	TOX3_ENST00000407228.3_Silent_p.R150R	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	155					apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity	p.R155R(1)|p.R150R(1)		NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						GGACGATGGACCGCATGATCA	0.562													5	102					0	0	1	0	0	T	52484402	C	T	52484402	2	4	52	1	0	0	0	0	0	0	0	1	16440	494	18	2		2	TOX3	16	52484402	Silent	SNP	C	TCGA-EJ-5515-01A-01D-1576-08		52484402	37870351	22	2635											
EPN2	22905	broad.mit.edu	37	chr17	19235303	19235303	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtccttcctgggccccaacGcggccctggtgaacctggac	6	7	12	16	2	0	1	0	1	0	0	2	2	2	2	6	4	2	0	6	4	2	1			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr17:19235303G>A	ENST00000314728.5	+	10	2033	c.1549G>A	c.(1549-1551)Gcg>Acg	p.A517T	EPN2_ENST00000395626.1_Intron|EPN2_ENST00000395618.3_Missense_Mutation_p.A232T|EPN2_ENST00000571254.1_Missense_Mutation_p.A453T|EPN2_ENST00000575595.1_Missense_Mutation_p.A225T|EPN2_ENST00000347697.2_Missense_Mutation_p.A460T|EPN2_ENST00000395620.2_Missense_Mutation_p.A460T	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	517	6 X 3 AA repeats of [DE]-P-W.				endocytosis		lipid binding	p.A517T(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					GGGCCCCAACGCGGCCCTGGT	0.627													4	134					0	0	1	0	0	A	19235303	G	A	19235303	3	1	52	1	0	0	0	0	1	0	0	0	5214	1087	38	1	1579	1	EPN2	17	19235303	Missense_Mutation	SNP	G	TCGA-EJ-5515-01A-01D-1576-08		19235303	61959907	23	2636											
SLFN11	91607	broad.mit.edu	37	chr17	33690215	33690215	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgagactcaggaaaaggcagGatttcaccatattcaagata	16	9	9	7	0	3	2	3	1	0	2	3	5	3	4	1	3	0	1	1	3	5	4			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr17:33690215G>T	ENST00000394566.1	-	4	884	c.612C>A	c.(610-612)atC>atA	p.I204I	SLFN11_ENST00000308377.4_Silent_p.I204I	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	204						nucleus	ATP binding	p.I204I(2)		autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GAAAAGGCAGGATTTCACCAT	0.413													7	171					0.00198382	0.00246474	1	1	0	T	33690215	G	T	33690215	2	4	52	1	0	0	0	0	0	0	0	1	14788	1164	41	4		4	SLFN11	17	33690215	Silent	SNP	G	TCGA-EJ-5515-01A-01D-1576-08	14454912	33690215	47504995	24	2637											
ALPK2	115701	broad.mit.edu	37	chr18	56246150	56246150	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttctttggagactgagtCtgttgaagtttgaagggttt	7	16	13	5	0	2	4	0	3	2	1	2	5	2	4	1	2	0	3	1	2	2	5			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr18:56246150C>A	ENST00000361673.3	-	4	2071	c.1858G>T	c.(1858-1860)Gac>Tac	p.D620Y	ALPK2_ENST00000587399.1_5'UTR	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	620							ATP binding|protein serine/threonine kinase activity	p.D620Y(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GAGACTGAGTCTGTTGAAGTT	0.473											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	160					1	1	1	1	0	A	56246150	C	A	56246150	3	1	52	1	0	0	0	0	1	0	0	0	541	913	32	4	4694	4	ALPK2	18	56246150	Missense_Mutation	SNP	C	TCGA-EJ-5515-01A-01D-1576-08		56246150	21831098	25	2638											
RTBDN	83546	broad.mit.edu	37	chr19	12940772	12940772	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccacgtcaggccgatgggtcGcatgtggaccctgcagtcca	7	7	13	14	3	1	0	1	0	0	0	3	2	2	1	4	3	1	2	4	3	0	0			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr19:12940772G>A	ENST00000589272.1	-	3	447	c.118C>T	c.(118-120)Cga>Tga	p.R40*	CTD-2265O21.3_ENST00000588469.1_RNA|RTBDN_ENST00000458671.2_Nonsense_Mutation_p.R8*|RTBDN_ENST00000393233.2_5'UTR|RTBDN_ENST00000592204.1_Nonsense_Mutation_p.R18*|RTBDN_ENST00000322912.5_Nonsense_Mutation_p.R40*			Q9BSG5	RTBDN_HUMAN	retbindin	8						extracellular region		p.R40*(1)		kidney(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12						CCGATGGGTCGCATGTGGACC	0.612													3	47					0	0	1	0	0	A	12940772	G	A	12940772	4	1	52	1	0	0	0	0	0	1	0	0	13769	1095	38	1	687	1	RTBDN	19	12940772	Nonsense_Mutation	SNP	G	TCGA-EJ-5515-01A-01D-1576-08		12940772	46188211	26	2639											
ZNF813	126017	broad.mit.edu	37	chr19	53993763	53993763	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctttcaggaaattgataaaGatattcataacttagagttt	15	15	7	4	0	2	3	2	1	0	2	2	4	2	4	0	1	1	2	0	1	6	8			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr19:53993763G>C	ENST00000396403.4	+	4	405	c.277G>C	c.(277-279)Gat>Cat	p.D93H	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	93			D -> V (in dbSNP:rs12609217).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D93H(1)		large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		AATTGATAAAGATATTCATAA	0.398													11	145					0	0	1	0	0	C	53993763	G	C	53993763	3	2	52	1	0	0	0	0	1	0	0	0	18223	942	33	4	287	4	ZNF813	19	53993763	Missense_Mutation	SNP	G	TCGA-EJ-5515-01A-01D-1576-08	41052991	53993763	5135220	27	2640											
KCNG1	3755	broad.mit.edu	37	chr20	49620863	49620863	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccgtcgtcatggtgatgaCagcccaccagtagcaggcag	10	6	12	13	2	1	2	1	2	0	0	2	2	1	2	3	2	2	3	3	2	1	1			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chr20:49620863C>A	ENST00000371571.4	-	3	1540	c.1255G>T	c.(1255-1257)Gtc>Ttc	p.V419F	RP5-955M13.3_ENST00000506387.1_RNA|RP5-955M13.4_ENST00000424566.1_RNA	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	419						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.V419F(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						ATGGTGATGACAGCCCACCAG	0.647													5	81					0.014758	0.0168077	1	1	0	A	49620863	C	A	49620863	3	1	52	1	0	0	0	0	1	0	0	0	8071	478	17	4	290	4	KCNG1	20	49620863	Missense_Mutation	SNP	C	TCGA-EJ-5515-01A-01D-1576-08		49620863	13404657	28	2641											
DDX3X	1654	broad.mit.edu	37	chrX	41196665	41196665	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctcactctcttctagtttgCtggcctagacctgaactctt	6	16	6	13	0	4	2	1	1	4	1	6	2	4	2	2	1	2	2	2	1	3	5			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chrX:41196665C>G	ENST00000399959.2	+	2	905	c.50C>G	c.(49-51)gCt>gGt	p.A17G	DDX3X_ENST00000542215.1_Missense_Mutation_p.A61G|DDX3X_ENST00000441189.2_Missense_Mutation_p.A17G|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000457138.2_Missense_Mutation_p.A17G	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	17					interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding	p.A17G(2)		NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						TTCTAGTTTGCTGGCCTAGAC	0.418										HNSCC(61;0.18)			3	38					0	0	1	0	0	G	41196665	C	G	41196665	3	3	52	1	0	0	0	0	1	0	0	0	4381	797	28	4	56	4	DDX3X	23	41196665	Missense_Mutation	SNP	C	TCGA-EJ-5515-01A-01D-1576-08		41196665	114073895	29	2642											
DKC1	1736	broad.mit.edu	37	chrX	153994551	153994551	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tcccatgaggtggtagcctgGattcgacggatacttcgggt	7	11	14	9	3	0	1	0	1	0	0	3	4	1	3	2	5	2	1	2	5	2	4			TCGA-EJ-5515-01A-01D-1576-08	TCGA-EJ-5515-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b42d70e0-8083-4d69-a63f-2ae7331dd8f5	b1c94201-9a51-43a9-8d6c-75e8f0ef7420	g.chrX:153994551G>C	ENST00000369550.5	+	5	534	c.324G>C	c.(322-324)tgG>tgC	p.W108C		NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	108					cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity	p.W108C(2)		breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGGTAGCCTGGATTCGACGGA	0.478									Congenital Dyskeratosis				5	59					0	0	1	0	0	C	153994551	G	C	153994551	3	2	52	1	0	0	0	0	1	0	0	0	4570	1183	41	4	342	4	DKC1	23	153994551	Missense_Mutation	SNP	G	TCGA-EJ-5515-01A-01D-1576-08	112797886	153994551	1276009	30	2643											
VPS13D	55187	broad.mit.edu	37	chr1	12336133	12336133	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctccagatcatggttggaCgagtgaaagacaattggaag	14	8	12	7	1	1	3	1	1	0	2	2	6	2	5	2	3	0	1	2	3	3	2			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr1:12336133C>T	ENST00000358136.3	+	19	2618	c.2488C>T	c.(2488-2490)Cga>Tga	p.R830*	VPS13D_ENST00000356315.4_Nonsense_Mutation_p.R830*	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	830					protein localization			p.R830*(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CATGGTTGGACGAGTGAAAGA	0.438											OREG0013110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	70					0	0	1	0	0	T	12336133	C	T	12336133	4	4	53	1	0	0	0	0	0	1	0	0	17252	528	19	1	2558	1	VPS13D	1	12336133	Nonsense_Mutation	SNP	C	TCGA-EJ-5516-01A-01D-1576-08		12336133	236914488	1	2644											
L1TD1	54596	broad.mit.edu	37	chr1	62672762	62672762	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacactaacgaatacaatagTaatgatggtaagaaattacc	20	9	6	6	1	0	2	0	1	0	1	0	3	0	2	1	1	4	2	1	1	10	6			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr1:62672762T>A	ENST00000498273.1	+	3	757	c.462T>A	c.(460-462)agT>agA	p.S154R		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	154								p.S154R(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						aatacaatagtaatgatggta	0.333													4	42					0	0	1	0	0	A	62672762	T	A	62672762	3	1	53	1	0	0	0	0	1	0	0	0	8628	1635	57	5	464	5	L1TD1	1	62672762	Missense_Mutation	SNP	T	TCGA-EJ-5516-01A-01D-1576-08	50336629	62672762	186577859	2	2645											
HFM1	164045	broad.mit.edu	37	chr1	91843738	91843738	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttcatcttttacaatatgTacctaagcaggaaatcaaga	15	14	5	7	0	3	1	2	0	1	1	3	2	3	2	1	1	3	2	1	1	7	7			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr1:91843738T>A	ENST00000370425.3	-	11	1337	c.1239A>T	c.(1237-1239)gtA>gtT	p.V413V	HFM1_ENST00000370424.3_Silent_p.V92V|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	413	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.V413V(1)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TTACAATATGTACCTAAGCAG	0.274													5	89					0	0	1	0	0	A	91843738	T	A	91843738	2	1	53	1	0	0	0	0	0	0	0	1	7124	1625	57	5		5	HFM1	1	91843738	Silent	SNP	T	TCGA-EJ-5516-01A-01D-1576-08	29170976	91843738	157406883	3	2646											
SPRR3	6707	broad.mit.edu	37	chr1	152975765	152975765	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaggtccctgagccaggctGtaccaaggtccctgagccag	9	6	12	14	0	0	2	0	2	0	0	2	2	2	2	5	3	3	2	5	3	3	1			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr1:152975765G>T	ENST00000331860.3	+	3	419	c.269G>T	c.(268-270)tGt>tTt	p.C90F	SPRR3_ENST00000542696.1_Missense_Mutation_p.C90F|SPRR3_ENST00000295367.4_Missense_Mutation_p.C90F	NM_005416.2	NP_005407.1	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	90	14 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity	p.C90F(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAGCCAGGCTGTACCAAGGTC	0.602													21	82					3.62473e-10	3.84441e-10	1	1	0	T	152975765	G	T	152975765	3	4	53	1	0	0	0	0	1	0	0	0	15159	1377	48	4	271	4	SPRR3	1	152975765	Missense_Mutation	SNP	G	TCGA-EJ-5516-01A-01D-1576-08	61132027	152975765	96274856	4	2647											
CD1E	913	broad.mit.edu	37	chr1	158325255	158325255	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catctgtaaagtgctcaatcGctacctagatattaaggaaa	15	11	7	8	1	2	1	1	0	1	1	3	2	2	2	1	1	2	3	1	1	8	5			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr1:158325255G>T	ENST00000444681.2	+	2	517	c.224G>T	c.(223-225)cGc>cTc	p.R75L	CD1E_ENST00000368156.1_Intron|CD1E_ENST00000368160.3_Missense_Mutation_p.R174L|CD1E_ENST00000368161.3_Missense_Mutation_p.R174L|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368167.3_Missense_Mutation_p.R174L|CD1E_ENST00000368165.3_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000434258.1_Missense_Mutation_p.R172L|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368163.3_Missense_Mutation_p.R174L	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	174					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen		p.R174L(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GTGCTCAATCGCTACCTAGAT	0.507													38	140					4.62619e-21	5.05989e-21	1	1	0	T	158325255	G	T	158325255	3	4	53	1	0	0	0	0	1	0	0	0	3000	1087	38	4	531	4	CD1E	1	158325255	Missense_Mutation	SNP	G	TCGA-EJ-5516-01A-01D-1576-08	5349490	158325255	90925366	5	2648											
THUMPD2	80745	broad.mit.edu	37	chr2	39982551	39982551	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacctacataatacacatccTatggggaaataaatatttta	17	12	4	8	0	0	0	0	0	0	0	1	1	1	1	2	2	2	0	2	2	9	8			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr2:39982551T>A	ENST00000505747.1	-	8	991		c.e8-2		THUMPD2_ENST00000260619.6_Splice_Site	NM_025264.4	NP_079540.2	Q9BTF0	THUM2_HUMAN	THUMP domain containing 2								methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	17		all_hematologic(82;0.248)				ATACACATCCTATGGGGAAAT	0.323													4	77					0	0	1	0	0	A	39982551	T	A	39982551	5	1	53	1	0	0	0	0	0	0	1	0	15943	1536	53	5	561	5	THUMPD2	2	39982551	Splice_Site	SNP	T	TCGA-EJ-5516-01A-01D-1576-08		39982551	203216822	6	2649											
KDM3A	55818	broad.mit.edu	37	chr2	86705343	86705343	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatgtgtgaagagtcagataCatgaaccagagaacttaatg	17	9	10	5	0	1	5	1	2	0	3	1	6	1	5	1	0	3	0	1	0	6	2			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr2:86705343C>T	ENST00000409556.1	+	15	2508	c.2143C>T	c.(2143-2145)Cat>Tat	p.H715Y	KDM3A_ENST00000312912.5_Missense_Mutation_p.H715Y|KDM3A_ENST00000409064.1_Missense_Mutation_p.H715Y|KDM3A_ENST00000542128.1_Missense_Mutation_p.H663Y			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	715					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.H715Y(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						GAGTCAGATACATGAACCAGA	0.408													27	159					0	0	1	0	0	T	86705343	C	T	86705343	3	4	53	1	0	0	0	0	1	0	0	0	8170	478	17	2	2193	2	KDM3A	2	86705343	Missense_Mutation	SNP	C	TCGA-EJ-5516-01A-01D-1576-08	46722792	86705343	156494030	7	2650											
IL1RL2	8808	broad.mit.edu	37	chr2	102842427	102842427	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtggctgtgtctgttgtgtAcatatacaacatttttaaga	10	17	9	5	0	1	1	0	0	1	1	1	1	1	1	0	1	3	3	0	1	5	7			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr2:102842427A>T	ENST00000264257.2	+	9	1187	c.1061A>T	c.(1060-1062)tAc>tTc	p.Y354F	IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000539491.1_Missense_Mutation_p.Y354F|IL1RL2_ENST00000441515.2_Missense_Mutation_p.Y236F	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	354					cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity	p.Y236F(1)|p.Y354F(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						TCTGTTGTGTACATATACAAC	0.383													5	82					0	0	1	0	0	T	102842427	A	T	102842427	3	4	53	1	0	0	0	0	1	0	0	0	7708	391	14	5	1091	5	IL1RL2	2	102842427	Missense_Mutation	SNP	A	TCGA-EJ-5516-01A-01D-1576-08	16137084	102842427	140356946	8	2651											
LY75	4065	broad.mit.edu	37	chr2	160688257	160688257	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctcaagaacaaagttattCtccttttcatctcgaatact	12	15	4	10	1	4	1	2	0	2	1	6	2	4	1	1	0	3	2	1	0	6	5			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr2:160688257C>T	ENST00000263636.4	-	28	3909	c.3882G>A	c.(3880-3882)gaG>gaA	p.E1294E	LY75_ENST00000554112.1_Silent_p.E1294E|LY75_ENST00000553424.1_Silent_p.E1294E|LY75-CD302_ENST00000505052.1_Silent_p.E1294E|LY75-CD302_ENST00000504764.1_Silent_p.E1294E	NM_002349.3	NP_002340.2			lymphocyte antigen 75									p.E1294E(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		CAAAGTTATTCTCCTTTTCAT	0.294													6	165					0	0	1	0	0	T	160688257	C	T	160688257	2	4	53	1	0	0	0	0	0	0	0	1	9145	912	32	2		2	LY75	2	160688257	Silent	SNP	C	TCGA-EJ-5516-01A-01D-1576-08	57845830	160688257	82511116	9	2652											
LY75	4065	broad.mit.edu	37	chr2	160710869	160710869	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaatatattcttttaaattAcatttgctattttgtttttg	12	23	3	3	0	1	0	0	0	1	0	1	0	1	0	0	0	2	2	0	0	8	12			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr2:160710869A>T	ENST00000263636.4	-	18	2623		c.e18+1		LY75_ENST00000554112.1_Splice_Site|LY75_ENST00000553424.1_Splice_Site|LY75-CD302_ENST00000505052.1_Splice_Site|LY75-CD302_ENST00000504764.1_Splice_Site	NM_002349.3	NP_002340.2			lymphocyte antigen 75									p.?(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		cttttaaattaCATTTGCTAT	0.254													5	66					0	0	1	0	0	T	160710869	A	T	160710869	5	4	53	1	0	0	0	0	0	0	1	0	9145	405	14	5	2643	5	LY75	2	160710869	Splice_Site	SNP	A	TCGA-EJ-5516-01A-01D-1576-08	22612	160710869	82488504	10	2653											
FASTKD2	22868	broad.mit.edu	37	chr2	207638988	207638988	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tatttgaaaaccttggctttCgacctgttggtttaatggac	9	16	9	7	1	0	1	0	1	0	0	1	3	0	2	2	3	1	3	2	3	4	7	rs118203917		TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr2:207638988C>G	ENST00000236980.6	+	7	1642	c.1294C>G	c.(1294-1296)Cga>Gga	p.R432G	FASTKD2_ENST00000402774.3_Missense_Mutation_p.R432G|FASTKD2_ENST00000403094.3_Missense_Mutation_p.R432G	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	432					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	p.R432*(1)|p.R432G(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		CCTTGGCTTTCGACCTGTTGG	0.303													8	171					0	0	1	0	0	G	207638988	C	G	207638988	3	3	53	1	0	0	0	0	1	0	0	0	5719	876	31	4	1316	4	FASTKD2	2	207638988	Missense_Mutation	SNP	C	TCGA-EJ-5516-01A-01D-1576-08	46928119	207638988	35560385	11	2654											
TMEM198	130612	broad.mit.edu	37	chr2	220414063	220414063	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcaaacgcttcaatggagAcgtcctctccccggtgagct	9	9	9	14	3	3	2	2	1	1	1	5	3	4	2	3	2	2	2	3	2	2	1			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr2:220414063A>G	ENST00000344458.2	+	5	1517	c.932A>G	c.(931-933)gAc>gGc	p.D311G	TMEM198_ENST00000373883.3_Missense_Mutation_p.D311G			Q66K66	TM198_HUMAN	transmembrane protein 198	311						integral to membrane		p.D311G(2)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		TTCAATGGAGACGTCCTCTCC	0.632													3	61					0	0	1	0	0	G	220414063	A	G	220414063	3	3	53	1	0	0	0	0	1	0	0	0	16179	275	10	3	942	3	TMEM198	2	220414063	Missense_Mutation	SNP	A	TCGA-EJ-5516-01A-01D-1576-08	12775075	220414063	22785310	12	2655											
SPHKAP	80309	broad.mit.edu	37	chr2	228882892	228882892	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgacttgaacttcgttgatgCgagatgtggcacagttgtac	9	13	12	7	2	0	4	0	3	0	1	1	5	0	4	0	1	3	4	0	1	2	5	rs137871355	byFrequency	TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr2:228882892C>T	ENST00000392056.3	-	7	2724	c.2678G>A	c.(2677-2679)cGc>cAc	p.R893H	SPHKAP_ENST00000344657.5_Missense_Mutation_p.R893H	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	893						cytoplasm	protein binding	p.R893H(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TTCGTTGATGCGAGATGTGGC	0.507													21	985					0	0	1	0	0	T	228882892	C	T	228882892	3	4	53	1	0	0	0	0	1	0	0	0	15104	768	27	1	2448	1	SPHKAP	2	228882892	Missense_Mutation	SNP	C	TCGA-EJ-5516-01A-01D-1576-08	8468829	228882892	14316481	13	2656											
CHL1	10752	broad.mit.edu	37	chr3	403423	403423	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaaagatggagaaaattacGctacagtggttgggtacagt	14	9	12	6	1	0	2	0	0	0	2	0	3	0	2	1	3	3	3	1	3	6	4			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr3:403423G>A	ENST00000256509.2	+	13	1990	c.1348G>A	c.(1348-1350)Gct>Act	p.A450T	CHL1_ENST00000397491.2_Missense_Mutation_p.A434T	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	434	Ig-like C2-type 5.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		p.A450T(1)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		AGAAAATTACGCTACAGTGGT	0.398													10	348					0	0	1	0	0	A	403423	G	A	403423	3	1	53	1	0	0	0	0	1	0	0	0	3371	1087	38	1	1390	1	CHL1	3	403423	Missense_Mutation	SNP	G	TCGA-EJ-5516-01A-01D-1576-08		403423	197619007	14	2657											
CNTN6	27255	broad.mit.edu	37	chr3	1427451	1427451	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgggacagggccctcaagcCccccagtcaatgttaccacc	9	6	9	17	0	2	0	2	0	0	0	2	1	2	1	6	2	2	1	6	2	3	1			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr3:1427451C>T	ENST00000446702.2	+	20	3301	c.2674C>T	c.(2674-2676)Ccc>Tcc	p.P892S	CNTN6_ENST00000350110.2_Missense_Mutation_p.P892S|CNTN6_ENST00000539053.1_Missense_Mutation_p.P820S			Q9UQ52	CNTN6_HUMAN	contactin 6	892	Fibronectin type-III 3.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		p.P892S(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GCCCTCAAGCCCCCCAGTCAA	0.453													7	240					0	0	1	0	0	T	1427451	C	T	1427451	3	4	53	1	0	0	0	0	1	0	0	0	3668	623	22	2	2748	2	CNTN6	3	1427451	Missense_Mutation	SNP	C	TCGA-EJ-5516-01A-01D-1576-08	1024028	1427451	196594979	15	2658											
DAG1	1605	broad.mit.edu	37	chr3	49570280	49570280	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatctgctaccgcaagaagcGgaagggcaagcttacccttg	11	7	12	11	2	1	1	0	0	1	1	1	3	1	2	2	2	5	4	2	2	6	3			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr3:49570280G>A	ENST00000545947.1	+	6	3058	c.2336G>A	c.(2335-2337)cGg>cAg	p.R779Q	DAG1_ENST00000539901.1_Missense_Mutation_p.R779Q|DAG1_ENST00000538711.1_Missense_Mutation_p.R779Q|DAG1_ENST00000515359.2_Missense_Mutation_p.R779Q|DAG1_ENST00000541308.1_Missense_Mutation_p.R779Q|DAG1_ENST00000308775.2_Missense_Mutation_p.R779Q	NM_001177634.2	NP_001171105.1	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	779					cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding	p.R779Q(1)		NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CGCAAGAAGCGGAAGGGCAAG	0.572													3	62					0	0	1	0	0	A	49570280	G	A	49570280	3	1	53	1	0	0	0	0	1	0	0	0	4249	1116	39	1	2342	1	DAG1	3	49570280	Missense_Mutation	SNP	G	TCGA-EJ-5516-01A-01D-1576-08	48142829	49570280	148452150	16	2659											
SPATA12	353324	broad.mit.edu	37	chr3	57108293	57108293	+	Nonstop_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacacatacacacacatctgTaatcaataataatcctgcaa	18	9	2	12	0	2	0	1	0	1	0	3	0	3	0	1	0	2	2	1	0	6	4			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr3:57108293T>A	ENST00000334325.1	+	2	1246	c.571T>A	c.(571-573)Taa>Aaa	p.*191K	ARHGEF3_ENST00000338458.4_Intron	NM_181727.1	NP_859078.1	Q7Z6I5	SPT12_HUMAN	spermatogenesis associated 12	0										large_intestine(2)|lung(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.0111)|Kidney(284;0.0129)		CACACATCTGTAATCAATAAT	0.512													7	233					0	0	1	0	0	A	57108293	T	A	57108293	4	1	53	1	0	0	0	0	0	0	0	0	15055	1651	57	5	573	5	SPATA12	3	57108293	Nonstop_Mutation	SNP	T	TCGA-EJ-5516-01A-01D-1576-08	7538013	57108293	140914137	17	2660											
WDR52	55779	broad.mit.edu	37	chr3	113152410	113152410	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatacatattatctttacttAcatcttgattctgatttaga	12	20	3	6	0	3	3	0	2	3	1	3	3	3	3	0	0	3	0	0	0	7	11			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr3:113152410A>T	ENST00000393845.2	-	2	167		c.e2+1		WDR52-AS1_ENST00000498480.1_RNA|WDR52_ENST00000295868.2_Splice_Site	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN	WD repeat domain 52									p.?(1)		breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						ATCTTTACTTACATCTTGATT	0.299													8	206					0	0	1	0	0	T	113152410	A	T	113152410	5	4	53	1	0	0	0	0	0	0	1	0	17364	405	14	5	5613	5	WDR52	3	113152410	Splice_Site	SNP	A	TCGA-EJ-5516-01A-01D-1576-08	56044117	113152410	84870020	18	2661											
ZBTB38	253461	broad.mit.edu	37	chr3	141161343	141161343	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttatgcgatgtcactatcaTtgtggaagataccaaattta	13	15	7	6	1	2	1	2	0	0	1	2	3	2	2	1	1	2	0	1	1	6	7			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr3:141161343T>C	ENST00000514251.1	+	4	392	c.113T>C	c.(112-114)aTt>aCt	p.I38T	ZBTB38_ENST00000441582.2_Missense_Mutation_p.I38T|ZBTB38_ENST00000321464.5_Missense_Mutation_p.I39T			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	38	BTB.				positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.I38T(1)		breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						GTCACTATCATTGTGGAAGAT	0.428													10	387					0	0	1	0	0	C	141161343	T	C	141161343	3	2	53	1	0	0	0	0	1	0	0	0	17598	1493	52	3	115	3	ZBTB38	3	141161343	Missense_Mutation	SNP	T	TCGA-EJ-5516-01A-01D-1576-08	28008933	141161343	56861087	19	2662											
SLC2A9	56606	broad.mit.edu	37	chr4	9828063	9828063	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccatcagtgacagctgagtcGattttctcttctggtgggta	7	14	11	9	1	3	2	1	2	2	0	5	3	3	2	1	2	1	2	1	2	1	4			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr4:9828063G>A	ENST00000506583.1	-	14	1711	c.1494C>T	c.(1492-1494)atC>atT	p.I498I	SLC2A9_ENST00000264784.3_Silent_p.I527I|SLC2A9_ENST00000309065.3_Silent_p.I498I			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	527					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity	p.I498I(1)|p.I527I(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						CAGCTGAGTCGATTTTCTCTT	0.423													13	306					0	0	1	0	0	A	9828063	G	A	9828063	2	1	53	1	0	0	0	0	0	0	0	1	14607	1048	37	1		1	SLC2A9	4	9828063	Silent	SNP	G	TCGA-EJ-5516-01A-01D-1576-08		9828063	181326213	20	2663											
EPHA5	2044	broad.mit.edu	37	chr4	66356112	66356112	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacctgcttgatttgtggttAcatttacagacacatactgc	10	15	7	9	0	0	2	0	1	0	1	0	2	0	2	1	1	6	2	1	1	4	7			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr4:66356112A>T	ENST00000273854.3	-	5	1985	c.1385T>A	c.(1384-1386)gTa>gAa	p.V462E	EPHA5_ENST00000354839.4_Missense_Mutation_p.V462E|EPHA5_ENST00000511294.1_Missense_Mutation_p.V462E|EPHA5_ENST00000432638.2_Intron	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	462					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	p.V462E(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						ATTTGTGGTTACATTTACAGA	0.473										TSP Lung(17;0.13)			6	91					0	0	1	0	0	T	66356112	A	T	66356112	3	4	53	1	0	0	0	0	1	0	0	0	5198	391	14	5	1784	5	EPHA5	4	66356112	Missense_Mutation	SNP	A	TCGA-EJ-5516-01A-01D-1576-08	56528049	66356112	124798164	21	2664											
CSN1S1	0	broad.mit.edu	37	chr4	70798273	70798273	+	Translation_Start_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacataggctctgataacCatgaggcttctcattctcac	10	13	6	12	0	3	2	2	2	3	0	5	2	3	2	1	2	2	2	1	2	3	5			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr4:70798273C>A	ENST00000246891.4	+	0	49				CSN1S1_ENST00000507772.1_Intron|CSN1S1_ENST00000507763.1_De_novo_Start_InFrame|CSN1S1_ENST00000505782.1_Intron|CSN1S1_ENST00000444405.3_De_novo_Start_InFrame	NM_001890.1	NP_001881.1	P47710	CASA1_HUMAN	casein alpha s1							extracellular region	protein binding|transporter activity			lung(5)|prostate(1)|upper_aerodigestive_tract(1)	7						CTCTGATAACCATGAGGCTTC	0.353													4	21					0.014758	0.0149719	1	1	0	A	70798273	C	A	70798273	1	1	53	1	0	0	0	0	0	0	0	0	3972	609	21	4		4	CSN1S1	4	70798273	Translation_Start_Site	SNP	C	TCGA-EJ-5516-01A-01D-1576-08	4442161	70798273	120356003	22	2665											
GRIA2	2891	broad.mit.edu	37	chr4	158257612	158257612	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcaaagcccttcatgagcctCgggatatctatcatgatcaa	12	11	7	11	1	5	2	4	2	1	0	6	3	5	3	2	1	2	0	2	1	4	3			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr4:158257612C>T	ENST00000296526.7	+	11	1882	c.1557C>T	c.(1555-1557)ctC>ctT	p.L519L	GRIA2_ENST00000449365.1_Silent_p.L472L|GRIA2_ENST00000507898.1_Silent_p.L472L|GRIA2_ENST00000393815.2_Silent_p.L472L|GRIA2_ENST00000264426.9_Silent_p.L519L	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	519					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.L519L(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	TCATGAGCCTCGGGATATCTA	0.408													80	422					0	0	1	0	0	T	158257612	C	T	158257612	2	4	53	1	0	0	0	0	0	0	0	1	6809	871	31	1		1	GRIA2	4	158257612	Silent	SNP	C	TCGA-EJ-5516-01A-01D-1576-08	87459339	158257612	32896664	23	2666											
SYNE1	23345	broad.mit.edu	37	chr6	152536125	152536125	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgatttccttatcattcaagGgtaacctatatccaagctca	12	14	5	10	0	3	1	3	1	0	0	5	1	5	1	3	1	2	2	3	1	6	6			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr6:152536125G>A	ENST00000367255.5	-	122	22863	c.22262C>T	c.(22261-22263)cCc>cTc	p.P7421L	SYNE1_ENST00000423061.1_Missense_Mutation_p.P7350L|SYNE1_ENST00000341594.5_Missense_Mutation_p.P7033L|SYNE1_ENST00000265368.4_Missense_Mutation_p.P7421L|SYNE1_ENST00000448038.1_Missense_Mutation_p.P7350L|SYNE1_ENST00000356820.4_Missense_Mutation_p.P1945L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7421					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.P7421L(3)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATCATTCAAGGGTAACCTATA	0.398										HNSCC(10;0.0054)			13	269					0	0	1	0	0	A	152536125	G	A	152536125	3	1	53	1	0	0	0	0	1	0	0	0	15502	1232	43	2	4304	2	SYNE1	6	152536125	Missense_Mutation	SNP	G	TCGA-EJ-5516-01A-01D-1576-08		152536125	18578942	24	2667											
ATP6V0A4	50617	broad.mit.edu	37	chr7	138437474	138437474	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcgatgttgcacatgttcaGgatgtggtagacagctttca	9	13	12	7	1	2	1	2	0	0	1	3	3	2	2	0	2	2	5	0	2	1	4			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr7:138437474G>A	ENST00000310018.2	-	11	1207	c.925C>T	c.(925-927)Ctg>Ttg	p.L309L	ATP6V0A4_ENST00000353492.4_Silent_p.L309L|ATP6V0A4_ENST00000393054.1_Silent_p.L309L	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	309					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	p.L309L(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CACATGTTCAGGATGTGGTAG	0.572													4	137					0	0	1	0	0	A	138437474	G	A	138437474	2	1	53	1	0	0	0	0	0	0	0	1	1168	991	35	2		2	ATP6V0A4	7	138437474	Silent	SNP	G	TCGA-EJ-5516-01A-01D-1576-08		138437474	20701189	25	2668											
KCNK9	51305	broad.mit.edu	37	chr8	140630697	140630697	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttctgcggtgccaccgagCggccgccatagtcctgcgag	6	7	14	14	5	1	0	0	0	1	0	2	2	2	0	5	2	4	1	5	2	1	2			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr8:140630697C>T	ENST00000520439.1	-	2	992	c.929G>A	c.(928-930)cGc>cAc	p.R310H	KCNK9_ENST00000303015.1_Missense_Mutation_p.R310H			Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	310						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity	p.R310H(1)		NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			TGCCACCGAGCGGCCGCCATA	0.622													7	50					0	0	1	0	0	T	140630697	C	T	140630697	3	4	53	1	0	0	0	0	1	0	0	0	8116	768	27	1	199	1	KCNK9	8	140630697	Missense_Mutation	SNP	C	TCGA-EJ-5516-01A-01D-1576-08		140630697	5733325	26	2669											
EXOSC4	54512	broad.mit.edu	37	chr8	145135356	145135356	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccagcctcaggacagattgCgctgcttgagatggatgccc	8	8	13	12	1	1	2	1	1	0	2	1	5	1	4	3	2	4	2	3	2	0	2			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr8:145135356C>A	ENST00000525936.1	+	3	543	c.462C>A	c.(460-462)tgC>tgA	p.C154*	EXOSC4_ENST00000316052.5_Missense_Mutation_p.A197E			Q9NPD3	EXOS4_HUMAN	exosome component 4	0					DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear mRNA surveillance|positive regulation of cell growth	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding	p.A197E(1)		lung(4)|prostate(1)|upper_aerodigestive_tract(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.48e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGACAGATTGCGCTGCTTGAG	0.662													20	106					4.35082e-09	4.54563e-09	1	1	0	A	145135356	C	A	145135356	4	1	53	1	0	0	0	0	0	1	0	0	5344	768	27	4	600	4	EXOSC4	8	145135356	Nonsense_Mutation	SNP	C	TCGA-EJ-5516-01A-01D-1576-08	4504659	145135356	1228666	27	2670											
MLLT10	8028	broad.mit.edu	37	chr10	21962615	21962615	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggcatagaagaagaaactgTaaaggaaaagaaaaggaaag	23	4	12	2	0	0	4	0	0	0	4	0	6	0	6	0	3	1	2	0	3	11	2			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr10:21962615T>A	ENST00000377072.3	+	11	1736	c.1388T>A	c.(1387-1389)gTa>gAa	p.V463E	MLLT10_ENST00000307729.7_Missense_Mutation_p.V463E|MLLT10_ENST00000446906.2_Missense_Mutation_p.V463E|MLLT10_ENST00000377059.3_Missense_Mutation_p.V463E	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	463	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V463E(2)		NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GAAGAAACTGTAAAGGAAAAG	0.398			T	"MLL, PICALM, CDK6"	AL								14	325					0	0	1	0	0	A	21962615	T	A	21962615	3	1	53	1	0	0	0	0	1	0	0	0	9674	1638	57	5	1426	5	MLLT10	10	21962615	Missense_Mutation	SNP	T	TCGA-EJ-5516-01A-01D-1576-08		21962615	113572132	28	2671											
BTBD10	84280	broad.mit.edu	37	chr11	13424827	13424827	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aattttgtgctataaataacTagaaacaaaaagaaaaatat	23	11	4	3	0	0	2	0	0	0	2	0	2	0	2	0	0	3	1	0	0	12	7			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr11:13424827T>A	ENST00000278174.5	-	8	1252		c.e8-2		BTBD10_ENST00000528120.1_Splice_Site|BTBD10_ENST00000530907.1_Splice_Site	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10							nucleus		p.?(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		TATAAATAACTAGAAACAAAA	0.294													8	192					0	0	1	0	0	A	13424827	T	A	13424827	5	1	53	1	0	0	0	0	0	0	1	0	1540	1536	53	5	430	5	BTBD10	11	13424827	Splice_Site	SNP	T	TCGA-EJ-5516-01A-01D-1576-08		13424827	121581689	29	2672											
MRGPRX4	117196	broad.mit.edu	37	chr11	18195494	18195494	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcttcctcctctgcggcctgCccttcggcattctgggggcc	1	12	11	17	2	3	0	0	0	3	0	6	0	5	0	5	4	2	1	5	4	0	3			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr11:18195494C>T	ENST00000314254.3	+	1	1111	c.691C>T	c.(691-693)Ccc>Tcc	p.P231S	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	231						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P231S(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CTGCGGCCTGCCCTTCGGCAT	0.532													21	99					0	0	1	0	0	T	18195494	C	T	18195494	3	4	53	1	0	0	0	0	1	0	0	0	9818	739	26	2	693	2	MRGPRX4	11	18195494	Missense_Mutation	SNP	C	TCGA-EJ-5516-01A-01D-1576-08	4770667	18195494	116811022	30	2673											
UEVLD	55293	broad.mit.edu	37	chr11	18579845	18579845	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctcctttagtcccttctgaGaggtctaagaggacaagcct	9	11	10	11	0	2	2	0	1	2	2	4	4	4	3	3	2	1	1	3	2	3	4			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr11:18579845G>C	ENST00000396197.3	-	7	673	c.645C>G	c.(643-645)ctC>ctG	p.L215L	UEVLD_ENST00000320750.6_Silent_p.L193L|UEVLD_ENST00000541984.1_Silent_p.L115L|UEVLD_ENST00000540666.1_5'UTR|UEVLD_ENST00000535484.1_Silent_p.L177L|UEVLD_ENST00000379387.4_Silent_p.L193L|UEVLD_ENST00000543987.1_Silent_p.L215L	NM_001040697.2|NM_001261384.1	NP_001035787.1|NP_001248313.1	Q8IX04	UEVLD_HUMAN	UEV and lactate/malate dehyrogenase domains	215					cellular carbohydrate metabolic process|protein modification process|protein transport		binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	p.L215L(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						TCCCTTCTGAGAGGTCTAAGA	0.413													7	106					0	0	1	0	0	C	18579845	G	C	18579845	2	2	53	1	0	0	0	0	0	0	0	1	16993	929	33	4		4	UEVLD	11	18579845	Silent	SNP	G	TCGA-EJ-5516-01A-01D-1576-08	384351	18579845	116426671	31	2674											
FOLH1	2346	broad.mit.edu	37	chr11	49186293	49186293	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtaccaagctgtacatcagCggtgtacaatcaactctcag	12	10	8	11	1	3	0	3	0	1	0	4	0	3	0	1	1	6	4	1	1	6	3	rs141224157	by1000genomes	TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr11:49186293C>T	ENST00000340334.7	-	14	1727	c.1359G>A	c.(1357-1359)ccG>ccA	p.P453P	FOLH1_ENST00000533034.1_Silent_p.P453P|FOLH1_ENST00000356696.3_Silent_p.P468P|FOLH1_ENST00000525629.1_5'UTR|FOLH1_ENST00000256999.2_Silent_p.P468P|FOLH1_ENST00000343844.4_Silent_p.P160P	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	468	NAALADase.				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	TGTACATCAGCGGTGTACAAT	0.284													3	53					0	0	1	0	0	T	49186293	C	T	49186293	2	4	53	1	0	0	0	0	0	0	0	1	6012	755	27	1		1	FOLH1	11	49186293	Silent	SNP	C	TCGA-EJ-5516-01A-01D-1576-08	30606448	49186293	85820223	32	2675											
DIP2B	57609	broad.mit.edu	37	chr12	51089055	51089055	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctttgtttttcagaatgtAatgaataagatgcacacaat	14	16	6	5	0	2	3	1	1	1	2	2	3	2	3	0	0	1	3	0	0	5	6			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr12:51089055A>T	ENST00000301180.5	+	15	1759	c.1725A>T	c.(1723-1725)gtA>gtT	p.V575V		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	575						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TTCAGAATGTAATGAATAAGA	0.333													7	234					0	0	1	0	0	T	51089055	A	T	51089055	2	4	53	1	0	0	0	0	0	0	0	1	4556	349	13	5		5	DIP2B	12	51089055	Silent	SNP	A	TCGA-EJ-5516-01A-01D-1576-08		51089055	82762840	33	2676											
TIMELESS	8914	broad.mit.edu	37	chr12	56811998	56811998	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctcggtgctctttacagTgctcctcatcagagccttgc	5	13	10	13	1	3	1	2	0	1	1	5	1	4	1	2	1	6	3	2	1	1	3			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr12:56811998T>C	ENST00000229201.4	-	27	3525	c.3371A>G	c.(3370-3372)cAc>cGc	p.H1124R	TIMELESS_ENST00000554616.1_Missense_Mutation_p.H622R|TIMELESS_ENST00000553532.1_Missense_Mutation_p.H1125R	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	1125					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		p.H1125R(1)		NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CTCTTTACAGTGCTCCTCATC	0.582													90	562					0	0	1	0	0	C	56811998	T	C	56811998	3	2	53	1	0	0	0	0	1	0	0	0	15964	1696	59	3	264	3	TIMELESS	12	56811998	Missense_Mutation	SNP	T	TCGA-EJ-5516-01A-01D-1576-08	5722943	56811998	77039897	34	2677											
RNF17	56163	broad.mit.edu	37	chr13	25376711	25376711	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttttatggaactagcaaagTaagtaacttattaaaactta	17	15	5	4	0	0	0	0	0	0	0	0	1	0	1	0	1	4	3	0	1	10	9			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr13:25376711T>A	ENST00000255324.5	+	14	2001		c.e14+2		RNF17_ENST00000255325.5_Splice_Site|RNF17_ENST00000381921.1_Splice_Site	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17						multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	p.?(4)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		ACTAGCAAAGTAAGTAACTTA	0.323													8	170					0	0	1	0	0	A	25376711	T	A	25376711	5	1	53	1	0	0	0	0	0	0	1	0	13513	1652	57	5	2005	5	RNF17	13	25376711	Splice_Site	SNP	T	TCGA-EJ-5516-01A-01D-1576-08		25376711	89793167	35	2678											
KBTBD7	84078	broad.mit.edu	37	chr13	41767606	41767606	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtgcatccagcgcacgcacTtgaagacttctgcagcactg	10	8	10	13	2	1	2	0	1	1	1	2	2	2	2	1	0	4	5	1	0	1	2			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr13:41767606T>C	ENST00000379483.3	-	1	1096	c.788A>G	c.(787-789)aAg>aGg	p.K263R		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	263							protein binding	p.K263R(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		GCGCACGCACTTGAAGACTTC	0.537													4	114					0	0	1	0	0	C	41767606	T	C	41767606	3	2	53	1	0	0	0	0	1	0	0	0	8042	1609	56	3	1270	3	KBTBD7	13	41767606	Missense_Mutation	SNP	T	TCGA-EJ-5516-01A-01D-1576-08	16390895	41767606	73402272	36	2679											
THBS1	7057	broad.mit.edu	37	chr15	39874829	39874829	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaagacagggcccagctgtAcatcgactgtgaaaagatgg	13	6	14	8	1	0	3	0	1	0	2	1	5	0	4	1	3	2	2	1	3	4	1			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr15:39874829A>G	ENST00000260356.5	+	3	668	c.503A>G	c.(502-504)tAc>tGc	p.Y168C		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	168	TSP N-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding	p.Y168C(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	GCCCAGCTGTACATCGACTGT	0.562													5	84					0	0	1	0	0	G	39874829	A	G	39874829	3	3	53	1	0	0	0	0	1	0	0	0	15913	391	14	3	509	3	THBS1	15	39874829	Missense_Mutation	SNP	A	TCGA-EJ-5516-01A-01D-1576-08		39874829	62656563	37	2680											
PPIP5K1	9677	broad.mit.edu	37	chr15	43827082	43827082	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggctgccaacttctacaagGgtttcctggaccaagctacc	9	9	10	13	0	1	0	0	0	1	0	2	1	2	1	4	3	5	3	4	3	5	4			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr15:43827082G>A	ENST00000420765.1	-	31	4274	c.4092C>T	c.(4090-4092)acC>acT	p.T1364T	PPIP5K1_ENST00000360135.4_Silent_p.T1337T|PPIP5K1_ENST00000334933.4_Silent_p.T1339T|PPIP5K1_ENST00000381879.4_Silent_p.T1340T|PPIP5K1_ENST00000396923.3_Silent_p.T1364T|PPIP5K1_ENST00000381885.1_Silent_p.T1360T|PPIP5K1_ENST00000360301.4_Silent_p.T1339T|PPIP5K1_ENST00000348806.6_Silent_p.T1337T	NM_001130858.2	NP_001124330.1	Q6PFW1	VIP1_HUMAN	diphosphoinositol pentakisphosphate kinase 1	1364					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	p.T1364T(1)		large_intestine(1)	1						CTTCTACAAGGGTTTCCTGGA	0.577													8	217					0	0	1	0	0	A	43827082	G	A	43827082	2	1	53	1	0	0	0	0	0	0	0	1	12381	1219	43	2		2	PPIP5K1	15	43827082	Silent	SNP	G	TCGA-EJ-5516-01A-01D-1576-08	3952253	43827082	58704310	38	2681											
EEF2K	29904	broad.mit.edu	37	chr16	22278045	22278045	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgctaccacgagggtgggCgcttctgcgagaagggcgag	7	6	18	10	5	1	1	0	0	1	1	1	4	1	1	1	3	3	2	1	3	2	2			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr16:22278045C>T	ENST00000263026.5	+	15	2086	c.1612C>T	c.(1612-1614)Cgc>Tgc	p.R538C		NM_013302.3	NP_037434.1	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	538					insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding	p.R538C(2)		breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		CGAGGGTGGGCGCTTCTGCGA	0.682													9	88					0	0	1	0	0	T	22278045	C	T	22278045	3	4	53	1	0	0	0	0	1	0	0	0	4956	768	27	1	1666	1	EEF2K	16	22278045	Missense_Mutation	SNP	C	TCGA-EJ-5516-01A-01D-1576-08		22278045	68076708	39	2682											
MYH8	4626	broad.mit.edu	37	chr17	10310244	10310244	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cattgggaatgatacaccgtAcgaagtgagggtgtgtgctc	10	10	14	7	2	0	2	0	2	0	0	1	4	0	3	1	2	3	2	1	2	4	3			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr17:10310244A>G	ENST00000403437.2	-	18	2112	c.2018T>C	c.(2017-2019)gTa>gCa	p.V673A	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	673	Actin-binding.|Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	p.V673A(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GATACACCGTACGAAGTGAGG	0.383									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				22	126					0	0	1	0	0	G	10310244	A	G	10310244	3	3	53	1	0	0	0	0	1	0	0	0	10089	391	14	3	3887	3	MYH8	17	10310244	Missense_Mutation	SNP	A	TCGA-EJ-5516-01A-01D-1576-08		10310244	70884966	40	2683											
ROCK1	6093	broad.mit.edu	37	chr18	18586746	18586746	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttccaactgatcctttaatgTagaaactagaaaatgaaaga	18	11	6	6	0	0	5	0	2	0	3	2	5	2	5	2	0	2	1	2	0	8	5			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr18:18586746T>A	ENST00000399799.1	-	15	2492	c.1552A>T	c.(1552-1554)Aca>Tca	p.T518S		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	518	Interaction with FHOD1.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	p.T518S(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TCCTTTAATGTAGAAACTAGA	0.308													7	202					0	0	1	0	0	A	18586746	T	A	18586746	3	1	53	1	0	0	0	0	1	0	0	0	13569	1638	57	5	2588	5	ROCK1	18	18586746	Missense_Mutation	SNP	T	TCGA-EJ-5516-01A-01D-1576-08		18586746	59490502	41	2684											
ZNRF4	148066	broad.mit.edu	37	chr19	5456787	5456787	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccctcctgaggcccctggtCagtaaagatctagggcaggg	8	7	13	13	0	2	2	1	1	1	1	3	2	3	2	5	4	0	2	5	4	3	2			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr19:5456787C>T	ENST00000222033.4	+	1	1362	c.1285C>T	c.(1285-1287)Cag>Tag	p.Q429*		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	429						integral to membrane	zinc ion binding	p.Q429*(1)		NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		GGCCCCTGGTCAGTAAAGATC	0.582													9	37					0	0	1	0	0	T	5456787	C	T	5456787	4	4	53	1	0	0	0	0	0	1	0	0	18256	827	29	2	1287	2	ZNRF4	19	5456787	Nonsense_Mutation	SNP	C	TCGA-EJ-5516-01A-01D-1576-08		5456787	53672196	42	2685											
SLC6A16	28968	broad.mit.edu	37	chr19	49812329	49812329	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgtgttagacaaaacttGaccccctgctagagaccaca	12	8	8	13	0	0	3	0	1	0	2	0	4	0	3	4	0	2	2	4	0	4	3			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr19:49812329G>T	ENST00000454748.3	-	7	1234	c.1033C>A	c.(1033-1035)Caa>Aaa	p.Q345K	SLC6A16_ENST00000335875.4_Missense_Mutation_p.Q345K			Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	345						integral to membrane|intracellular	neurotransmitter:sodium symporter activity	p.Q345K(1)		NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		GACAAAACTTGACCCCCTGCT	0.483													8	279					3.09899e-07	3.19013e-07	1	1	0	T	49812329	G	T	49812329	3	4	53	1	0	0	0	0	1	0	0	0	14734	1299	45	4	1201	4	SLC6A16	19	49812329	Missense_Mutation	SNP	G	TCGA-EJ-5516-01A-01D-1576-08	44355542	49812329	9316654	43	2686											
KIF3B	9371	broad.mit.edu	37	chr20	30898587	30898587	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactctgcgatatgccaaccGtgccaaaaacattaagaaca	16	7	6	12	2	1	1	0	0	1	1	1	2	1	1	3	0	6	0	3	0	6	2			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr20:30898587G>A	ENST00000375712.3	+	2	1174	c.1007G>A	c.(1006-1008)cGt>cAt	p.R336H	KIF3B_ENST00000418717.2_Missense_Mutation_p.R24H	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	336	Kinesin-motor.				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding	p.R336H(2)		NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TATGCCAACCGTGCCAAAAAC	0.532													12	91					0	0	1	0	0	A	30898587	G	A	30898587	3	1	53	1	0	0	0	0	1	0	0	0	8343	1145	40	1	1009	1	KIF3B	20	30898587	Missense_Mutation	SNP	G	TCGA-EJ-5516-01A-01D-1576-08		30898587	32126933	44	2687											
COL9A3	1299	broad.mit.edu	37	chr20	61471946	61471946	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccaggacggtgctcccggCgagcctgggcctcccggaga	5	4	17	15	4	0	1	0	0	0	1	2	4	2	2	5	6	2	1	5	6	0	0			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr20:61471946C>T	ENST00000343916.3	+	32	1920	c.1917C>T	c.(1915-1917)ggC>ggT	p.G639G	COL9A3_ENST00000462700.1_3'UTR	NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	639	Triple-helical region 1 (COL1).				axon guidance	collagen type IX		p.G639G(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					GTGCTCCCGGCGAGCCTGGGC	0.672													5	56					0	0	1	0	0	T	61471946	C	T	61471946	2	4	53	1	0	0	0	0	0	0	0	1	3732	755	27	1		1	COL9A3	20	61471946	Silent	SNP	C	TCGA-EJ-5516-01A-01D-1576-08	30573359	61471946	1553574	45	2688											
SYNJ1	8867	broad.mit.edu	37	chr21	34066614	34066614	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagaaactgagtcatctaagTacacaacctacagaaaaaaa	22	6	5	8	0	2	3	1	1	1	2	2	3	2	3	1	0	4	1	1	0	9	3			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr21:34066614T>A	ENST00000382499.2	-	6	829	c.830A>T	c.(829-831)tAc>tTc	p.Y277F	SYNJ1_ENST00000382491.3_Missense_Mutation_p.Y238F|SYNJ1_ENST00000433931.2_Missense_Mutation_p.Y277F|SYNJ1_ENST00000357345.3_Missense_Mutation_p.Y238F|SYNJ1_ENST00000322229.7_Missense_Mutation_p.Y238F	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	238	SAC.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GTCATCTAAGTACACAACCTA	0.323													4	73					0	0	1	0	0	A	34066614	T	A	34066614	3	1	53	1	0	0	0	0	1	0	0	0	15509	1638	57	5	4150	5	SYNJ1	21	34066614	Missense_Mutation	SNP	T	TCGA-EJ-5516-01A-01D-1576-08		34066614	14063281	46	2689											
CSTB	1476	broad.mit.edu	37	chr21	45194208	45194208	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagtcctcgtcgccgacgtGcacctgggaagagagcggag	9	5	16	11	5	0	1	0	0	0	1	3	6	1	3	3	2	2	1	3	2	2	0			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr21:45194208G>A	ENST00000291568.5	-	3	347	c.172C>T	c.(172-174)Cac>Tac	p.H58Y		NM_000100.3	NP_000091.1	P04080	CYTB_HUMAN	cystatin B (stefin B)	58						cytoplasm|nucleolus	cysteine-type endopeptidase inhibitor activity|protease binding	p.H58Y(1)		lung(1)|prostate(1)	2				STAD - Stomach adenocarcinoma(101;0.168)		TCGCCGACGTGCACCTGGGAA	0.537													21	118					0	0	1	0	0	A	45194208	G	A	45194208	3	1	53	1	0	0	0	0	1	0	0	0	4007	1319	46	2	128	2	CSTB	21	45194208	Missense_Mutation	SNP	G	TCGA-EJ-5516-01A-01D-1576-08	11127594	45194208	2935687	47	2690											
CPT1B	1375	broad.mit.edu	37	chr22	51008809	51008809	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gattgggggatctggctggtGgagagacgccagggttccga	7	8	19	7	2	1	1	0	0	1	1	2	6	2	3	2	6	0	2	2	6	0	2			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chr22:51008809G>A	ENST00000360719.2	-	17	2192	c.2055C>T	c.(2053-2055)tcC>tcT	p.S685S	CPT1B_ENST00000434492.2_Silent_p.S480S|CPT1B_ENST00000405237.3_Silent_p.S685S|CPT1B_ENST00000440709.1_Silent_p.S604S|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000312108.7_Silent_p.S685S|CPT1B_ENST00000457250.1_Silent_p.S651S|CPT1B_ENST00000395650.2_Silent_p.S685S	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	685					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	p.S685S(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		TCTGGCTGGTGGAGAGACGCC	0.617													8	116					0	0	1	0	0	A	51008809	G	A	51008809	2	1	53	1	0	0	0	0	0	0	0	1	3855	1335	47	2		2	CPT1B	22	51008809	Silent	SNP	G	TCGA-EJ-5516-01A-01D-1576-08		51008809	295757	48	2691											
FAM47C	442444	broad.mit.edu	37	chrX	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctccgcccggagcctcccAatactggagtgtcccatctc	6	9	9	17	2	2	0	0	0	2	0	6	2	4	2	5	2	2	0	5	2	2	1	rs145580328	byFrequency	TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642													4	69					0	0	1	0	0	G	37028425	A	G	37028425	3	3	53	1	0	0	0	0	1	0	0	0	5607	130	5	3	1944	3	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-EJ-5516-01A-01D-1576-08		37028425	118242135	49	2692											
VSIG4	11326	broad.mit.edu	37	chrX	65252421	65252421	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgcaggcttgaagagtaaggTacttagggttgctactttga	10	12	13	6	1	0	3	0	2	0	1	0	3	0	3	0	3	3	6	0	3	5	7			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chrX:65252421T>C	ENST00000455586.2	-	3	709	c.583A>G	c.(583-585)Acc>Gcc	p.T195A	VSIG4_ENST00000374737.4_Missense_Mutation_p.T195A|VSIG4_ENST00000412866.2_Intron	NM_001184830.1	NP_001171759.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	195	Ig-like 2.				complement activation, alternative pathway	integral to membrane	protein binding	p.T195A(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AAGAGTAAGGTACTTAGGGTT	0.498													6	66					0	0	1	0	0	C	65252421	T	C	65252421	3	2	53	1	0	0	0	0	1	0	0	0	17285	1638	57	3	644	3	VSIG4	23	65252421	Missense_Mutation	SNP	T	TCGA-EJ-5516-01A-01D-1576-08	28223996	65252421	90018139	50	2693											
MAMLD1	10046	broad.mit.edu	37	chrX	149671652	149671652	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagtgagtccttcctgcccGgcagctcctttgctcatgag	5	11	12	13	1	1	2	1	2	0	0	4	3	4	3	4	2	3	3	4	2	0	2			TCGA-EJ-5516-01A-01D-1576-08	TCGA-EJ-5516-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dbdfe2-f446-463e-847c-885759682c43	b4bf3137-c8ca-4491-bbfc-3d864e521faf	g.chrX:149671652G>A	ENST00000370401.2	+	6	2459	c.2149G>A	c.(2149-2151)Ggc>Agc	p.G717S	MAMLD1_ENST00000432680.2_Intron|MAMLD1_ENST00000455522.2_Missense_Mutation_p.G157S|MAMLD1_ENST00000262858.5_Missense_Mutation_p.G717S|MAMLD1_ENST00000426613.2_Missense_Mutation_p.G692S			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	717					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.G717S(1)|p.G644S(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					CTTCCTGCCCGGCAGCTCCTT	0.677													34	79					0	0	1	0	0	A	149671652	G	A	149671652	3	1	53	1	0	0	0	0	1	0	0	0	9258	1116	39	1	2167	1	MAMLD1	23	149671652	Missense_Mutation	SNP	G	TCGA-EJ-5516-01A-01D-1576-08	84419231	149671652	5598908	51	2694											
INADL	10207	broad.mit.edu	37	chr1	62614008	62614008	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agctcagcttgaaaacatgtCtacaggctaccaccttggtt	11	11	8	11	0	2	1	1	1	1	0	2	1	2	1	2	2	5	4	2	2	4	5			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr1:62614008C>G	ENST00000371158.2	+	42	5438	c.5324C>G	c.(5323-5325)tCt>tGt	p.S1775C		NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1775					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	p.S1775C(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GAAAACATGTCTACAGGCTAC	0.448													8	301					0	0	0.307466	0	0	G	62614008	C	G	62614008	3	3	54	1	0	0	0	0	1	0	0	0	7775	913	32	4	5486	4	INADL	1	62614008	Missense_Mutation	SNP	C	TCGA-EJ-5517-01A-01D-1576-08		62614008	186636613	1	2695											
PSRC1	84722	broad.mit.edu	37	chr1	109823645	109823645	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaggctgtggggccaggaCggatctgatgggggtgggtg	7	7	22	5	1	1	2	0	1	1	1	1	4	1	4	1	8	0	1	1	8	1	0			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr1:109823645C>T	ENST00000438534.2	-	5	886	c.748G>A	c.(748-750)Gtc>Atc	p.V250I	PSRC1_ENST00000369909.2_Missense_Mutation_p.V220I|PSRC1_ENST00000369907.3_Missense_Mutation_p.V220I|PSRC1_ENST00000409267.1_Missense_Mutation_p.V220I|PSRC1_ENST00000409138.2_Missense_Mutation_p.V250I|PSRC1_ENST00000369903.2_Missense_Mutation_p.V220I|PSRC1_ENST00000369904.3_Intron	NM_001005290.3	NP_001005290.1	Q6PGN9	PSRC1_HUMAN	proline/serine-rich coiled-coil 1	250	Pro/Ser-rich.				cell division|microtubule bundle formation|mitotic metaphase plate congression|negative regulation of cell growth|positive regulation of microtubule polymerization|positive regulation of transcription, DNA-dependent|regulation of mitotic spindle organization	cytosol|midbody|spindle pole	microtubule binding	p.V250I(1)		endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	7		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213)		GGGGCCAGGACGGATCTGATG	0.612													24	42					0	0	0.693898	0	0	T	109823645	C	T	109823645	3	4	54	1	0	0	0	0	1	0	0	0	12768	536	19	1	387	1	PSRC1	1	109823645	Missense_Mutation	SNP	C	TCGA-EJ-5517-01A-01D-1576-08	47209637	109823645	139426976	2	2696											
AIM2	9447	broad.mit.edu	37	chr1	159033322	159033322	+	Frame_Shift_Del	DEL	T	T	-																															tcagctgtagtttttctccaTtttttgacagtgtgaagaat																										TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr1:159033322delT	ENST00000368130.4	-	5	1247	c.959delA	c.(958-960)atfs	p.N320fs	AIM2_ENST00000481829.1_5'UTR	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	320	HIN-200.				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus				breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					TTTTTCTCCATTTTTTGACAG	0.408													209	379	---	---	---	---						-	159033322	T	-	159033322	7	5	54	1	0	1	0	1	0	0	0	0	429	1493	52	0	80	0	AIM2	1	159033322	Frame_Shift_Del	DEL	T	TCGA-EJ-5517-01A-01D-1576-08	49209677	159033322	90217299	3	2697											
TPR	7175	broad.mit.edu	37	chr1	186307316	186307316	+	Frame_Shift_Del	DEL	T	T	-																															ccttttcagttcttactttaTttagatcttccttcagactc																										TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr1:186307316delT	ENST00000367478.3	-	31	4507	c.4211delA	c.(4210-4212)atfs	p.N1404fs		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1404					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TCTTACTTTATTTAGATCTTC	0.294			T	NTRK1	papillary thyroid								27	195	---	---	---	---						-	186307316	T	-	186307316	7	5	54	1	0	1	0	1	0	0	0	0	16477	1493	52	0	2964	0	TPR	1	186307316	Frame_Shift_Del	DEL	T	TCGA-EJ-5517-01A-01D-1576-08	27273994	186307316	62943305	4	2698											
TRAF3IP3	80342	broad.mit.edu	37	chr1	209948722	209948722	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccttggggaatgaaaaaagTactactggagatggaagacc	15	7	12	7	0	0	3	0	1	0	2	0	6	0	5	2	4	2	1	2	4	7	3			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr1:209948722T>A	ENST00000367024.1	+	10	1319	c.803T>A	c.(802-804)gTa>gAa	p.V268E	TRAF3IP3_ENST00000477431.1_Missense_Mutation_p.V4E|TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.V248E|TRAF3IP3_ENST00000367023.1_Missense_Mutation_p.V4E|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.V268E|TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.V248E|TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.V248E			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	268						integral to membrane	protein binding	p.V248E(1)		breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		ATGAAAAAAGTACTACTGGAG	0.428													10	35					0	0	0.38729	0	0	A	209948722	T	A	209948722	3	1	54	1	0	0	0	0	1	0	0	0	16503	1638	57	5	833	5	TRAF3IP3	1	209948722	Missense_Mutation	SNP	T	TCGA-EJ-5517-01A-01D-1576-08	23641406	209948722	39301899	5	2699											
OR2M3	127062	broad.mit.edu	37	chr1	248367150	248367150	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagctttgttcatgtacataCggcccacatctgatcgctcc	8	12	7	14	2	2	1	1	1	1	0	4	1	3	1	2	1	3	4	2	1	2	4	rs147728074	byFrequency	TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr1:248367150C>T	ENST00000456743.1	+	1	819	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R261W(1)		endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CATGTACATACGGCCCACATC	0.502													61	385					0	0	0.870114	0	0	T	248367150	C	T	248367150	3	4	54	1	0	0	0	0	1	0	0	0	11059	527	19	1	783	1	OR2M3	1	248367150	Missense_Mutation	SNP	C	TCGA-EJ-5517-01A-01D-1576-08	38418428	248367150	883471	6	2700											
PUM2	23369	broad.mit.edu	37	chr2	20490511	20490511	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctgcccttgctgaccctgaTtgggagtaagaggacgctga	8	9	14	10	1	0	4	0	3	0	1	0	6	0	6	2	2	2	4	2	2	1	3			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr2:20490511T>C	ENST00000361078.2	-	9	1215	c.1193A>G	c.(1192-1194)aAt>aGt	p.N398S	PUM2_ENST00000319801.5_Missense_Mutation_p.N398S|PUM2_ENST00000403432.1_Missense_Mutation_p.N398S|PUM2_ENST00000536417.1_Missense_Mutation_p.N342S|PUM2_ENST00000338086.5_Missense_Mutation_p.N398S			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	398	Ala-rich.|Gln-rich.				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding	p.N398S(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGACCCTGATTGGGAGTAAG	0.443													10	123					0	0	0.38729	0	0	C	20490511	T	C	20490511	3	2	54	1	0	0	0	0	1	0	0	0	12878	1493	52	3	2049	3	PUM2	2	20490511	Missense_Mutation	SNP	T	TCGA-EJ-5517-01A-01D-1576-08		20490511	222708862	7	2701											
EPC2	26122	broad.mit.edu	37	chr2	149526724	149526724	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctcttttgtctaggtatTgtccccagtatcagaaccgg	7	14	9	11	1	3	1	1	0	2	1	4	1	4	1	4	2	2	2	4	2	4	6			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr2:149526724T>G	ENST00000258484.6	+	8	1179	c.1145T>G	c.(1144-1146)tTg>tGg	p.L382W		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	382					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.L382W(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		GTCTAGGTATTGTCCCCAGTA	0.378													5	33					0	0	0.217242	0	0	G	149526724	T	G	149526724	3	3	54	1	0	0	0	0	1	0	0	0	5189	1821	63	5	1175	5	EPC2	2	149526724	Missense_Mutation	SNP	T	TCGA-EJ-5517-01A-01D-1576-08	129036213	149526724	93672649	8	2702											
PARD3B	117583	broad.mit.edu	37	chr2	206050517	206050517	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tgcccaatgacggatgggccGagagtgaagttccaccttct	9	9	12	11	2	1	3	0	2	1	1	2	5	2	4	4	2	1	1	4	2	2	2			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr2:206050517G>C	ENST00000406610.2	+	14	2161	c.1954G>C	c.(1954-1956)Gag>Cag	p.E652Q	PARD3B_ENST00000358768.2_Missense_Mutation_p.E590Q|PARD3B_ENST00000462231.1_Missense_Mutation_p.E652Q|PARD3B_ENST00000349953.3_Missense_Mutation_p.E652Q|PARD3B_ENST00000351153.1_Missense_Mutation_p.E652Q	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	652					cell cycle|cell division	endomembrane system|tight junction		p.E591Q(1)|p.E652Q(1)|p.E590Q(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CGGATGGGCCGAGAGTGAAGT	0.443													6	244					0	0	0.248553	0	0	C	206050517	G	C	206050517	3	2	54	1	0	0	0	0	1	0	0	0	11491	1059	37	4	2008	4	PARD3B	2	206050517	Missense_Mutation	SNP	G	TCGA-EJ-5517-01A-01D-1576-08	56523793	206050517	37148856	9	2703											
PASK	23178	broad.mit.edu	37	chr2	242079323	242079323	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtgccaaacaccaccgcagCgtggccgtcggcctccatgt	7	6	11	17	5	0	0	0	0	0	0	2	0	1	0	6	2	3	1	6	2	1	0			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr2:242079323C>G	ENST00000403638.3	-	4	668	c.577G>C	c.(577-579)Gct>Cct	p.A193P	PASK_ENST00000539818.1_Intron|PASK_ENST00000358649.4_Missense_Mutation_p.A193P|PASK_ENST00000544142.1_Intron|PASK_ENST00000234040.4_Missense_Mutation_p.A193P|PASK_ENST00000405260.1_Missense_Mutation_p.A193P	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	193					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	p.A193P(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		ACCACCGCAGCGTGGCCGTCG	0.602													18	62					0	0	0.575678	0	0	G	242079323	C	G	242079323	3	3	54	1	0	0	0	0	1	0	0	0	11519	768	27	4	3454	4	PASK	2	242079323	Missense_Mutation	SNP	C	TCGA-EJ-5517-01A-01D-1576-08	36028806	242079323	1120050	10	2704											
CNTN6	27255	broad.mit.edu	37	chr3	1262421	1262422	+	Frame_Shift_Ins	INS	-	-	T																															tcaggagccacatgatgtcaINStttttcctttggatttatca																										TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr3:1262421_1262422insT	ENST00000446702.2	+	3	733_734	c.106_107insT	c.(106-108)tttfs	p.F36fs	CNTN6_ENST00000350110.2_Frame_Shift_Ins_p.F36fs|CNTN6_ENST00000539053.1_5'UTR			Q9UQ52	CNTN6_HUMAN	contactin 6	36	Ig-like C2-type 1.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		ACATGATGTCATTTTTCCTTTG	0.401													8	324	---	---	---	---						T	1262422	-	T	1262421	7	5	54	1	0	1	1	0	0	0	0	0	3668	217	8	0	112	0	CNTN6	3	1262421	Frame_Shift_Ins	INS	-	TCGA-EJ-5517-01A-01D-1576-08		1262421	196760009	11	2705											
ULK4	54986	broad.mit.edu	37	chr3	41949428	41949428	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctagttctgggagtaggaCgagaactgaaaaatacaaac	16	8	11	6	1	1	2	0	1	1	1	1	5	1	4	0	2	4	3	0	2	7	4			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr3:41949428C>A	ENST00000301831.4	-	12	1553	c.1091G>T	c.(1090-1092)cGt>cTt	p.R364L	ULK4_ENST00000420927.1_Missense_Mutation_p.R364L	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	364							ATP binding|protein serine/threonine kinase activity	p.R364L(2)		breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		GGGAGTAGGACGAGAACTGAA	0.408													29	83					3.65163e-15	4.50626e-15	0.706142	1	0	A	41949428	C	A	41949428	3	1	54	1	0	0	0	0	1	0	0	0	17038	536	19	4	2840	4	ULK4	3	41949428	Missense_Mutation	SNP	C	TCGA-EJ-5517-01A-01D-1576-08	40687007	41949428	156073002	12	2706											
CORIN	10699	broad.mit.edu	37	chr4	47679997	47679997	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actcccatccttgcagtcctCgtcaccatcacattgaaacg	10	10	5	16	2	2	1	2	1	0	0	6	1	5	1	4	0	2	1	4	0	1	2			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr4:47679997C>T	ENST00000273857.4	-	9	1206	c.1207G>A	c.(1207-1209)Gag>Aag	p.E403K	CORIN_ENST00000504584.1_Missense_Mutation_p.E366K|CORIN_ENST00000502252.1_Missense_Mutation_p.E336K|CORIN_ENST00000505909.1_Missense_Mutation_p.E366K|CORIN_ENST00000508498.1_Missense_Mutation_p.E264K	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	403	LDL-receptor class A 4.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	p.E403K(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						TTGCAGTCCTCGTCACCATCA	0.512													5	157					0	0	0.184627	0	0	T	47679997	C	T	47679997	3	4	54	1	0	0	0	0	1	0	0	0	3775	893	31	1	1977	1	CORIN	4	47679997	Missense_Mutation	SNP	C	TCGA-EJ-5517-01A-01D-1576-08		47679997	143474279	13	2707											
DCHS2	54798	broad.mit.edu	37	chr4	155242138	155242138	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgaaaagataatgagatgtCgtctcataatcaagttcctt	14	13	7	7	1	2	3	2	2	1	2	5	4	3	3	1	0	0	1	1	0	5	4			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr4:155242138C>T	ENST00000357232.3	-	14	3047	c.3048G>A	c.(3046-3048)acG>acA	p.T1016T		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1016	Cadherin 8.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T1016T(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AATGAGATGTCGTCTCATAAT	0.378													30	341					0	0	0.717897	0	0	T	155242138	C	T	155242138	2	4	54	1	0	0	0	0	0	0	0	1	4311	871	31	1		1	DCHS2	4	155242138	Silent	SNP	C	TCGA-EJ-5517-01A-01D-1576-08	107562141	155242138	35912138	14	2708											
SLC22A4	6583	broad.mit.edu	37	chr5	131676278	131676278	+	Frame_Shift_Del	DEL	C	C	-																															gtgcttacaacagaatgctgCcctacatcgtcatgggtagt																										TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr5:131676278delC	ENST00000200652.3	+	9	1639	c.1465delC	c.(1465-1467)ccfs	p.P489fs	AC034220.3_ENST00000417795.1_RNA|AC034220.3_ENST00000437091.1_RNA	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	489					body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	CAGAATGCTGCCCTACATCGT	0.458													15	665	---	---	---	---						-	131676278	C	-	131676278	7	5	54	1	0	1	0	1	0	0	0	0	14511	739	26	0	1499	0	SLC22A4	5	131676278	Frame_Shift_Del	DEL	C	TCGA-EJ-5517-01A-01D-1576-08		131676278	49238982	15	2709											
FAM13B	0	broad.mit.edu	37	chr5	137277736	137277736	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgttccaataattcaggccTagaattgaaatggtaaaata	16	13	7	5	0	1	2	1	1	0	1	2	2	2	2	2	2	0	2	2	2	8	8			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr5:137277736T>C	ENST00000033079.3	-	22	2974		c.e22-2		FAM13B_ENST00000425075.2_Splice_Site|FAM13B_ENST00000420893.2_Splice_Site|PKD2L2_ENST00000508883.1_Intron	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.?(1)		endometrium(4)|kidney(2)|lung(5)	11						AATTCAGGCCTAGAATTGAAA	0.368													3	118					0	0	0.115264	0	0	C	137277736	T	C	137277736	5	2	54	1	0	0	0	0	0	0	1	0	5483	1536	53	3	234	3	FAM13B	5	137277736	Splice_Site	SNP	T	TCGA-EJ-5517-01A-01D-1576-08	5601458	137277736	43637524	16	2710											
PCDHB8	0	broad.mit.edu	37	chr5	140558062	140558062	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatcagagagcagtcctccTgggactgcgtttcctctgaa	8	11	11	11	1	2	2	1	1	1	1	5	4	5	3	3	1	2	3	3	1	2	2			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr5:140558062T>A	ENST00000239444.2	+	1	692	c.447T>A	c.(445-447)ccT>ccA	p.P149P		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		149	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P149P(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCAGTCCTCCTGGGACTGCGT	0.413													91	395					0	0	0.870114	0	0	A	140558062	T	A	140558062	2	1	54	1	0	0	0	0	0	0	0	1	11595	1567	55	5		5	PCDHB8	5	140558062	Silent	SNP	T	TCGA-EJ-5517-01A-01D-1576-08	3280326	140558062	40357198	17	2711											
PCDHGB7	0	broad.mit.edu	37	chr5	140798265	140798265	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caactcagagatcacttattCcttctttggtgtggctgaca	9	14	8	10	0	3	2	2	1	1	1	4	3	4	2	1	2	1	1	1	2	2	4			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr5:140798265C>T	ENST00000398594.2	+	1	839	c.839C>T	c.(838-840)tCc>tTc	p.S280F	PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018927.3	NP_061750.1												p.S280F(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCACTTATTCCTTCTTTGGT	0.493													30	43					0	0	0.729181	0	0	T	140798265	C	T	140798265	3	4	54	1	0	0	0	0	1	0	0	0	11615	855	30	2	841	2	PCDHGB7	5	140798265	Missense_Mutation	SNP	C	TCGA-EJ-5517-01A-01D-1576-08	240203	140798265	40116995	18	2712											
TNXB	7148	broad.mit.edu	37	chr6	32018029	32018029	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacggtcagctcccccaggCgaggcttgatggggggctca	6	7	15	13	2	3	1	3	1	0	0	4	2	4	1	2	6	1	3	2	6	0	1			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr6:32018029C>T	ENST00000375244.3	-	27	9386	c.9185G>A	c.(9184-9186)cGc>cAc	p.R3062H	TNXB_ENST00000375247.2_Missense_Mutation_p.R3060H			P22105	TENX_HUMAN	tenascin XB	3107	Fibronectin type-III 22.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	p.R3127H(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CTCCCCCAGGCGAGGCTTGAT	0.627													42	85					0	0	0.870114	0	0	T	32018029	C	T	32018029	3	4	54	1	0	0	0	0	1	0	0	0	16406	768	27	1	5606	1	TNXB	6	32018029	Missense_Mutation	SNP	C	TCGA-EJ-5517-01A-01D-1576-08		32018029	139097038	19	2713											
COL11A2	1302	broad.mit.edu	37	chr6	33135619	33135619	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcccctcggaaccaggcgagCcagcaggaccctgcaggtgg	8	3	15	15	2	0	0	0	0	0	0	1	3	0	2	5	5	4	2	5	5	1	0			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr6:33135619C>A	ENST00000341947.2	-	55	4198	c.3971G>T	c.(3970-3972)gGc>gTc	p.G1324V	COL11A2_ENST00000361917.1_Missense_Mutation_p.G1217V|COL11A2_ENST00000374712.1_Missense_Mutation_p.G1243V|COL11A2_ENST00000374713.1_Missense_Mutation_p.G1277V|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374708.4_Missense_Mutation_p.G1238V|COL11A2_ENST00000357486.1_Missense_Mutation_p.G1303V|COL11A2_ENST00000395197.1_Missense_Mutation_p.G1264V|COL11A2_ENST00000374714.1_Missense_Mutation_p.G1298V	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1324	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	p.G1324V(1)		biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						ACCAGGCGAGCCAGCAGGACC	0.637													3	37					0.00909568	0.0103441	0.150653	1	0	A	33135619	C	A	33135619	3	1	54	1	0	0	0	0	1	0	0	0	3691	739	26	4	1287	4	COL11A2	6	33135619	Missense_Mutation	SNP	C	TCGA-EJ-5517-01A-01D-1576-08	1117590	33135619	137979448	20	2714											
DAAM2	23500	broad.mit.edu	37	chr6	39828787	39828787	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggcagatctactgcagcaaGaagaaggtgccctctctgac	11	8	11	11	0	2	4	0	1	2	3	3	4	2	4	1	2	4	3	1	2	4	1			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr6:39828787G>A	ENST00000538976.1	+	3	434	c.252G>A	c.(250-252)aaG>aaA	p.K84K	DAAM2_ENST00000274867.4_Silent_p.K84K|DAAM2_ENST00000398904.2_Silent_p.K84K|DAAM2_ENST00000405961.3_Silent_p.K84K|DAAM2_ENST00000494405.1_3'UTR	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	84	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding	p.K84K(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					ACTGCAGCAAGAAGAAGGTGC	0.502													7	22					0	0	0.27861	0	0	A	39828787	G	A	39828787	2	1	54	1	0	0	0	0	0	0	0	1	4240	933	33	2		2	DAAM2	6	39828787	Silent	SNP	G	TCGA-EJ-5517-01A-01D-1576-08	6693168	39828787	131286280	21	2715											
DPP6	1804	broad.mit.edu	37	chr7	154667655	154667655	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagagtgtggctgagaagttCgaggtgagctgggagacggt	9	8	19	5	2	0	4	0	2	0	3	1	7	0	4	0	4	1	3	0	4	1	1			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr7:154667655C>T	ENST00000404039.1	+	20	2318	c.1731C>T	c.(1729-1731)ttC>ttT	p.F577F	DPP6_ENST00000332007.3_Silent_p.F579F|DPP6_ENST00000427557.1_Silent_p.F534F|DPP6_ENST00000377770.3_Silent_p.F641F	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	641					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	p.F577F(1)|p.F641F(1)		NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CTGAGAAGTTCGAGGTGAGCT	0.652													4	19					0	0	0.184627	0	0	T	154667655	C	T	154667655	2	4	54	1	0	0	0	0	0	0	0	1	4756	883	31	1		1	DPP6	7	154667655	Silent	SNP	C	TCGA-EJ-5517-01A-01D-1576-08		154667655	4471008	22	2716											
NKX3-1	4824	broad.mit.edu	37	chr8	23539003	23539003	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggggccgacaggtacttctGatggctgaacttcctctcca	8	10	11	12	1	2	2	0	2	2	0	4	3	3	2	3	4	2	2	3	4	2	3			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr8:23539003G>C	ENST00000380871.4	-	2	473	c.436C>G	c.(436-438)Cag>Gag	p.Q146E	NKX3-1_ENST00000523261.1_Missense_Mutation_p.Q71E	NM_006167.3	NP_006158.2	Q99801	NKX31_HUMAN	NK3 homeobox 1	146					negative regulation of estrogen receptor binding|negative regulation of transcription, DNA-dependent|positive regulation of cell division|positive regulation of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter	nucleus	estrogen receptor activity|estrogen receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region sequence-specific DNA binding	p.Q146E(1)		large_intestine(3)|lung(4)|prostate(5)|skin(2)	14		Prostate(55;0.114)		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)		AGGTACTTCTGATGGCTGAAC	0.572													5	308					0	0	0.184627	0	0	C	23539003	G	C	23539003	3	2	54	1	0	0	0	0	1	0	0	0	10502	1299	45	4	272	4	NKX3-1	8	23539003	Missense_Mutation	SNP	G	TCGA-EJ-5517-01A-01D-1576-08		23539003	122825019	23	2717											
CSPP1	79848	broad.mit.edu	37	chr8	68007736	68007736	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgaattaaggaatagaagaaTtattaaaaaagcaaatgaag	23	8	8	2	1	0	3	0	1	0	2	0	5	0	4	0	1	1	1	0	1	12	4			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr8:68007736T>C	ENST00000262210.5	+	6	750	c.719T>C	c.(718-720)aTt>aCt	p.I240T	CSPP1_ENST00000412460.1_5'UTR	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	275						centrosome|microtubule|spindle		p.I240T(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			AATAGAAGAATTATTAAAAAA	0.373													4	161					0	0	0.150653	0	0	C	68007736	T	C	68007736	3	2	54	1	0	0	0	0	1	0	0	0	3987	1493	52	3	854	3	CSPP1	8	68007736	Missense_Mutation	SNP	T	TCGA-EJ-5517-01A-01D-1576-08	44468733	68007736	78356286	24	2718											
TTC18	118491	broad.mit.edu	37	chr10	75072385	75072385	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggccaatatcccggaacaagCtcaataaacatttggtctga	14	9	8	10	1	2	1	1	1	1	0	3	2	3	2	2	3	3	1	2	3	7	3			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr10:75072385C>T	ENST00000310715.3	-	11	1259	c.1139G>A	c.(1138-1140)aGc>aAc	p.S380N	TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000401621.2_Missense_Mutation_p.S380N|TTC18_ENST00000394865.1_Missense_Mutation_p.S380N	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	380							binding	p.S380N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					CCGGAACAAGCTCAATAAACA	0.294													9	292					0	0	0.307466	0	0	T	75072385	C	T	75072385	3	4	54	1	0	0	0	0	1	0	0	0	16747	797	28	2	2298	2	TTC18	10	75072385	Missense_Mutation	SNP	C	TCGA-EJ-5517-01A-01D-1576-08		75072385	60462362	25	2719											
ZBTB3	79842	broad.mit.edu	37	chr11	62519844	62519844	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgtagtgtgtaagagcatgaGaaggtcttcccacatgtctt	10	12	11	8	1	2	2	0	1	2	2	3	3	3	2	1	1	1	3	1	1	3	4			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr11:62519844G>C	ENST00000394807.3	-	2	1568	c.1443C>G	c.(1441-1443)ttC>ttG	p.F481L		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	481					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F481L(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						AAGAGCATGAGAAGGTCTTCC	0.552													16	106					0	0	0.539581	0	0	C	62519844	G	C	62519844	3	2	54	1	0	0	0	0	1	0	0	0	17593	933	33	4	285	4	ZBTB3	11	62519844	Missense_Mutation	SNP	G	TCGA-EJ-5517-01A-01D-1576-08		62519844	72486672	26	2720											
TAF1D	79101	broad.mit.edu	37	chr11	93471531	93471531	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggtattggttcaaaagatGagtcacttgatgaatcactt	13	14	9	5	0	3	4	3	3	0	1	3	4	3	4	0	2	0	2	0	2	4	5			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr11:93471531G>A	ENST00000448108.2	-	3	853	c.203C>T	c.(202-204)tCa>tTa	p.S68L		NM_024116.3	NP_077021.1	Q9H5J8	TAF1D_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa	68					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.S68L(1)		large_intestine(1)|lung(3)|prostate(1)|skin(2)	7						TTCAAAAGATGAGTCACTTGA	0.363													93	178					0	0	0.870114	0	0	A	93471531	G	A	93471531	3	1	54	1	0	0	0	0	1	0	0	0	15579	1294	45	2	649	2	TAF1D	11	93471531	Missense_Mutation	SNP	G	TCGA-EJ-5517-01A-01D-1576-08	30951687	93471531	41534985	27	2721											
KRT6C	286887	broad.mit.edu	37	chr12	52864359	52864359	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgatctcagcaatctcctgcTtggtgttgcgcaggtcgtcc	5	13	11	12	2	2	1	1	1	2	0	6	1	3	1	2	2	3	4	2	2	1	2			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr12:52864359T>A	ENST00000252250.6	-	6	1180	c.1133A>T	c.(1132-1134)aAg>aTg	p.K378M		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	378	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity	p.K378M(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		AATCTCCTGCTTGGTGTTGCG	0.552													18	181					0	0	0.557998	0	0	A	52864359	T	A	52864359	3	1	54	1	0	0	0	0	1	0	0	0	8525	1609	56	5	577	5	KRT6C	12	52864359	Missense_Mutation	SNP	T	TCGA-EJ-5517-01A-01D-1576-08		52864359	80987536	28	2722											
SLC6A15	55117	broad.mit.edu	37	chr12	85266407	85266407	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagctcttcttcaattttacAggaattgagatgaagagcag	13	13	9	6	0	3	3	1	2	2	2	3	5	3	4	0	1	3	2	0	1	5	6			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr12:85266407A>T	ENST00000266682.5	-	8	1817	c.1276T>A	c.(1276-1278)Tgt>Agt	p.C426S	SLC6A15_ENST00000309283.7_Missense_Mutation_p.C134S|SLC6A15_ENST00000552192.1_Missense_Mutation_p.C319S	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	426					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.C426S(1)		kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						TCAATTTTACAGGAATTGAGA	0.318													4	159					0	0	0.217242	0	0	T	85266407	A	T	85266407	3	4	54	1	0	0	0	0	1	0	0	0	14733	188	7	5	936	5	SLC6A15	12	85266407	Missense_Mutation	SNP	A	TCGA-EJ-5517-01A-01D-1576-08	32402048	85266407	48585488	29	2723											
TPCN1	53373	broad.mit.edu	37	chr12	113733848	113733848	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgccgcccagcagcccccAggcagccgccagcgctccca	6	1	10	24	4	0	0	0	0	0	0	1	0	1	0	8	1	4	3	8	1	0	0			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr12:113733848A>T	ENST00000550785.1	+	29	2803	c.2634A>T	c.(2632-2634)ccA>ccT	p.P878P	TPCN1_ENST00000335509.6_Silent_p.P806P|TPCN1_ENST00000541517.1_Silent_p.P878P|TPCN1_ENST00000392569.4_Silent_p.P738P	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	806						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity	p.P806P(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						AGCAGCCCCCAGGCAGCCGCC	0.597													23	41					0	0	0.667858	0	0	T	113733848	A	T	113733848	2	4	54	1	0	0	0	0	0	0	0	1	16456	175	7	5		5	TPCN1	12	113733848	Silent	SNP	A	TCGA-EJ-5517-01A-01D-1576-08	28467441	113733848	20118047	30	2724											
TMEM132B	114795	broad.mit.edu	37	chr12	126068419	126068419	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caccgaggttttgaacactgCcattctcactggaaagcctg	10	10	9	12	1	1	1	1	1	1	0	2	3	1	2	3	2	3	1	3	2	2	3			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr12:126068419C>T	ENST00000299308.3	+	5	1309	c.1301C>T	c.(1300-1302)gCc>gTc	p.A434V		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	434						integral to membrane		p.A434V(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TTGAACACTGCCATTCTCACT	0.542													8	476					0	0	0.27861	0	0	T	126068419	C	T	126068419	3	4	54	1	0	0	0	0	1	0	0	0	16106	739	26	2	1319	2	TMEM132B	12	126068419	Missense_Mutation	SNP	C	TCGA-EJ-5517-01A-01D-1576-08	12334571	126068419	7783476	31	2725											
SLC28A1	9154	broad.mit.edu	37	chr15	85447467	85447467	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgctcaaagcatcattgcGcagtgagtgctagttgtggg	8	11	13	9	1	2	1	2	1	0	0	2	1	2	1	1	1	4	5	1	1	2	3			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr15:85447467G>T	ENST00000394573.1	+	7	803	c.601G>T	c.(601-603)Gca>Tca	p.A201S	SLC28A1_ENST00000537216.1_Missense_Mutation_p.A201S|SLC28A1_ENST00000537624.1_Missense_Mutation_p.A201S|SLC28A1_ENST00000538177.1_Missense_Mutation_p.A201S|SLC28A1_ENST00000537703.1_Missense_Mutation_p.A123S|SLC28A1_ENST00000286749.3_Missense_Mutation_p.A201S	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	201					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding	p.A201S(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GCATCATTGCGCAGTGAGTGC	0.582													5	229					0.184627	0.198303	0.184627	1	0	T	85447467	G	T	85447467	3	4	54	1	0	0	0	0	1	0	0	0	14586	1087	38	4	690	4	SLC28A1	15	85447467	Missense_Mutation	SNP	G	TCGA-EJ-5517-01A-01D-1576-08		85447467	17083925	32	2726											
CAPNS2	84290	broad.mit.edu	37	chr16	55601019	55601019	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaaagatcttaagactgaCggttttagtcttgacacctg	12	12	8	9	1	2	4	0	2	2	2	2	4	2	4	1	1	0	1	1	1	3	4			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr16:55601019C>T	ENST00000457326.2	+	1	436	c.351C>T	c.(349-351)gaC>gaT	p.D117D	LPCAT2_ENST00000565056.1_Intron|LPCAT2_ENST00000262134.5_Intron	NM_032330.1	NP_115706.1	Q96L46	CPNS2_HUMAN	calpain, small subunit 2	117						cytoplasm|plasma membrane	calcium ion binding	p.D117D(1)		central_nervous_system(1)|large_intestine(1)|lung(3)|prostate(2)	7						TTAAGACTGACGGTTTTAGTC	0.448													7	333					0	0	0.248553	0	0	T	55601019	C	T	55601019	2	4	54	1	0	0	0	0	0	0	0	1	2652	535	19	1		1	CAPNS2	16	55601019	Silent	SNP	C	TCGA-EJ-5517-01A-01D-1576-08		55601019	34753734	33	2727											
CENPT	80152	broad.mit.edu	37	chr16	67865092	67865092	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggggagagctttccccaaaGgccagcaggggaaaacccaa	13	3	13	12	1	0	1	0	0	0	1	1	3	1	2	4	5	3	2	4	5	4	1			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr16:67865092G>C	ENST00000445712.2	-	6	667	c.421C>G	c.(421-423)Ctt>Gtt	p.L141V	CENPT_ENST00000562947.1_Intron|CENPT_ENST00000440851.2_Intron|CENPT_ENST00000219172.3_Intron|CENPT_ENST00000564817.1_Intron|CENPT_ENST00000562787.1_Intron			Q96BT3	CENPT_HUMAN	centromere protein T	0					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		TTTCCCCAAAGGCCAGCAGGG	0.592													29	259					0	0	0.750413	0	0	C	67865092	G	C	67865092	3	2	54	1	0	0	0	0	1	0	0	0	3264	1015	35	4		4	CENPT	16	67865092	Missense_Mutation	SNP	G	TCGA-EJ-5517-01A-01D-1576-08	12264073	67865092	22489661	34	2728											
FOXA3	3171	broad.mit.edu	37	chr19	46375689	46375689	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagatgctgaccttgagtgaAatctaccagtggatcatgga	13	10	11	7	0	2	4	1	3	1	1	2	6	2	6	2	2	2	1	2	2	3	2			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr19:46375689A>T	ENST00000302177.2	+	2	623	c.426A>T	c.(424-426)gaA>gaT	p.E142D		NM_004497.2	NP_004488.2	P55318	FOXA3_HUMAN	forkhead box A3	142					brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	p.E142D(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		CCTTGAGTGAAATCTACCAGT	0.567													18	257					0	0	0.557998	0	0	T	46375689	A	T	46375689	3	4	54	1	0	0	0	0	1	0	0	0	6024	11	1	5	432	5	FOXA3	19	46375689	Missense_Mutation	SNP	A	TCGA-EJ-5517-01A-01D-1576-08		46375689	12753294	35	2729											
ZNF534	147658	broad.mit.edu	37	chr19	52937267	52937267	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggaggagtggaaatgcctGgaccctgggcagaaagcttt	11	7	15	8	0	0	1	0	0	0	1	0	5	0	5	2	5	2	2	2	5	2	1			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr19:52937267G>A	ENST00000332323.6	+	2	136	c.75G>A	c.(73-75)ctG>ctA	p.L25L	ZNF534_ENST00000433050.1_Silent_p.L25L|ZNF534_ENST00000432303.2_Silent_p.L25L|ZNF534_ENST00000301085.4_Silent_p.L25L	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	25	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L25L(2)		central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						GGAAATGCCTGGACCCTGGGC	0.478													57	116					0	0	0.870114	0	0	A	52937267	G	A	52937267	2	1	54	1	0	0	0	0	0	0	0	1	18030	1335	47	2		2	ZNF534	19	52937267	Silent	SNP	G	TCGA-EJ-5517-01A-01D-1576-08	6561578	52937267	6191716	36	2730											
FOXA2	3170	broad.mit.edu	37	chr20	22562683	22562683	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	attttgtggggttggtggtgGtggtggctgtggtggtgctg	1	16	22	2	0	0	0	0	0	0	0	0	0	0	0	0	9	1	3	0	9	0	3			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr20:22562683G>C	ENST00000419308.2	-	2	1381	c.1179C>G	c.(1177-1179)caC>caG	p.H393Q	FOXA2_ENST00000377115.4_Missense_Mutation_p.H393Q|FOXA2_ENST00000319993.4_Missense_Mutation_p.H399Q	NM_021784.4	NP_068556.2	Q9Y261	FOXA2_HUMAN	forkhead box A2	393	Transactivation domain 2 (By similarity).				cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.H393Q(1)		breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					GTtggtggtggtggtggctgt	0.617													3	91					0	0	0.115264	0	0	C	22562683	G	C	22562683	3	2	54	1	0	0	0	0	1	0	0	0	6023	1252	44	4	198	4	FOXA2	20	22562683	Missense_Mutation	SNP	G	TCGA-EJ-5517-01A-01D-1576-08		22562683	40462837	37	2731											
TPTE	7179	broad.mit.edu	37	chr21	10908828	10908828	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctattatattcatacctgTtattttcaataaaagatgtg	13	19	4	5	0	3	1	2	0	1	1	3	1	3	1	1	0	1	1	1	0	8	10			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr21:10908828T>G	ENST00000298232.7	-	22	1830	c.1463A>C	c.(1462-1464)aAc>aCc	p.N488T	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.N506T|TPTE_ENST00000342420.5_Missense_Mutation_p.N468T	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	506	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.N488T(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			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)		TTCATACCTGTTATTTTCAAT	0.294													4	129					0	0	0.150653	0	0	G	10908828	T	G	10908828	3	3	54	1	0	0	0	0	1	0	0	0	16491	1725	60	5	146	5	TPTE	21	10908828	Missense_Mutation	SNP	T	TCGA-EJ-5517-01A-01D-1576-08		10908828	37221067	38	2732											
PRR5	55615	broad.mit.edu	37	chr22	45128196	45128196	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatgccatcaccctcagtgtGaagctagaggatgcgctggc	10	8	12	11	1	2	2	2	1	0	1	2	3	2	3	2	2	3	2	2	2	3	1			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chr22:45128196G>C	ENST00000403581.1	+	8	1158	c.549G>C	c.(547-549)gtG>gtC	p.V183V	PRR5_ENST00000336985.6_Silent_p.V160V|ARHGAP8_ENST00000389773.5_Intron|PRR5_ENST00000477331.1_3'UTR|ARHGAP8_ENST00000517296.3_Silent_p.V160V|PRR5-ARHGAP8_ENST00000352766.7_Silent_p.V160V|PRR5-ARHGAP8_ENST00000361473.5_Intron	NM_001198721.1	NP_001185650.1			proline rich 5 (renal)									p.V160V(1)|p.V151V(1)		central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1)	11		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)		CCCTCAGTGTGAAGCTAGAGG	0.682													3	120					0	0	0.115264	0	0	C	45128196	G	C	45128196	2	2	54	1	0	0	0	0	0	0	0	1	12650	1277	45	4		4	PRR5	22	45128196	Silent	SNP	G	TCGA-EJ-5517-01A-01D-1576-08		45128196	6176370	39	2733											
USP9X	8239	broad.mit.edu	37	chrX	41000651	41000651	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catcgacatggtaatcctgaGgaggaagagtggctcacagc	12	7	13	9	1	1	2	1	1	0	1	3	5	2	4	1	4	1	2	1	4	2	1			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chrX:41000651G>A	ENST00000324545.7	+	9	1761	c.1128G>A	c.(1126-1128)gaG>gaA	p.E376E	USP9X_ENST00000378308.2_Silent_p.E376E	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	376					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	p.E369E(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GTAATCCTGAGGAGGAAGAGT	0.363													13	36					0	0	0.411799	0	0	A	41000651	G	A	41000651	2	1	54	1	0	0	0	0	0	0	0	1	17150	991	35	2		2	USP9X	23	41000651	Silent	SNP	G	TCGA-EJ-5517-01A-01D-1576-08		41000651	114269909	40	2734											
FAM127A	8933	broad.mit.edu	37	chrX	134166693	134166693	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agagccccctcctcaatgatTaccggggctttctggccgag	7	9	11	14	2	2	2	1	1	1	1	3	3	3	2	5	3	2	1	5	3	2	2			TCGA-EJ-5517-01A-01D-1576-08	TCGA-EJ-5517-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087a7f17-690b-460f-a9ce-ab90d316a64c	3a863bfc-2b84-4a57-8049-f41ebba5ab1c	g.chrX:134166693T>A	ENST00000257013.7	+	1	361	c.280T>A	c.(280-282)Tac>Aac	p.Y94N	FAM127A_ENST00000464369.1_Intron	NM_001078171.1	NP_001071639.1	A6ZKI3	F127A_HUMAN	family with sequence similarity 127, member A	94								p.Y94N(1)		endometrium(3)|urinary_tract(1)	4	Acute lymphoblastic leukemia(192;0.000127)					CCTCAATGATTACCGGGGCTT	0.642													29	16					0	0	0.760397	0	0	A	134166693	T	A	134166693	3	1	54	1	0	0	0	0	1	0	0	0	5462	1754	61	5	282	5	FAM127A	23	134166693	Missense_Mutation	SNP	T	TCGA-EJ-5517-01A-01D-1576-08	93166042	134166693	21103867	41	2735											
TMEM51	55092	broad.mit.edu	37	chr1	15546032	15546032	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtggaggccagccctgggaaCccccctgacaggcagaactc	9	4	13	15	0	0	2	0	1	0	1	1	4	0	4	5	4	3	1	5	4	2	0			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr1:15546032C>T	ENST00000428417.1	+	3	1001	c.555C>T	c.(553-555)aaC>aaT	p.N185N	TMEM51_ENST00000434578.2_3'UTR|TMEM51_ENST00000376014.3_Silent_p.N185N|TMEM51_ENST00000376008.2_Silent_p.N185N|TMEM51_ENST00000400796.3_Silent_p.N185N	NM_001136217.1	NP_001129689.1	Q9NW97	TMM51_HUMAN	transmembrane protein 51	185						integral to membrane		p.N185N(1)		breast(1)|central_nervous_system(1)|cervix(3)|large_intestine(2)|lung(5)|prostate(2)	14		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)		GCCCTGGGAACCCCCCTGACA	0.547													23	76					0	0	1	0	0	T	15546032	C	T	15546032	2	4	55	1	0	0	0	0	0	0	0	1	16237	506	18	2		2	TMEM51	1	15546032	Silent	SNP	C	TCGA-EJ-5518-01A-01D-1576-08		15546032	233704589	1	2736											
LRRC7	57554	broad.mit.edu	37	chr1	70502287	70502287	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acagctaaagatgcagtacaTaattctttgtggggtaacag	14	11	10	6	0	1	1	0	0	1	1	1	1	1	1	0	2	4	4	0	2	5	6			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr1:70502287T>C	ENST00000310961.5	+	21	2587	c.2169T>C	c.(2167-2169)caT>caC	p.H723H	LRRC7_ENST00000415775.2_Intron|LRRC7_ENST00000035383.5_Silent_p.H718H			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	718						centrosome|focal adhesion|nucleolus	protein binding	p.H718H(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						ATGCAGTACATAATTCTTTGT	0.413													7	169					0	0	1	0	0	C	70502287	T	C	70502287	2	2	55	1	0	0	0	0	0	0	0	1	9065	1403	49	3		3	LRRC7	1	70502287	Silent	SNP	T	TCGA-EJ-5518-01A-01D-1576-08	54956255	70502287	178748334	2	2737											
NOTCH2NL	388677	broad.mit.edu	37	chr1	145273385	145273385	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcgaccttgcctgaatggcgGcacatgccatatgctcagcc	8	9	10	14	2	1	1	1	1	0	0	2	2	1	1	4	2	4	2	4	2	2	2			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr1:145273385G>A	ENST00000369340.3	+	4	683	c.239G>A	c.(238-240)gGc>gAc	p.G80D	NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.G80D|RP11-458D21.5_ENST00000468030.1_Missense_Mutation_p.G80D|NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.G80D			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	80	EGF-like 3.				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding	p.G80D(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						CTGAATGGCGGCACATGCCAT	0.532													7	493					0	0	1	0	0	A	145273385	G	A	145273385	3	1	55	1	0	0	0	0	1	0	0	0	10596	1203	42	2	245	2	NOTCH2NL	1	145273385	Missense_Mutation	SNP	G	TCGA-EJ-5518-01A-01D-1576-08	74771098	145273385	103977236	3	2738											
HRNR	388697	broad.mit.edu	37	chr1	152191256	152191256	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agctggaggagtgacctgagCcagatccatgctgagtgtaa	11	8	14	8	0	0	4	0	3	0	1	1	6	1	6	3	2	3	3	3	2	1	1			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr1:152191256C>T	ENST00000368801.2	-	3	2924	c.2849G>A	c.(2848-2850)gGc>gAc	p.G950D	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	950					keratinization		calcium ion binding|protein binding	p.G950D(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGACCTGAGCCAGATCCATG	0.547													265	245					0	0	1	0	0	T	152191256	C	T	152191256	3	4	55	1	0	0	0	0	1	0	0	0	7400	739	26	2	5707	2	HRNR	1	152191256	Missense_Mutation	SNP	C	TCGA-EJ-5518-01A-01D-1576-08	6917871	152191256	97059365	4	2739											
S100A7L2	645922	broad.mit.edu	37	chr1	153410763	153410763	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtattggcgaaacatcgCgactatgtccaacatgactt	12	11	8	10	3	0	1	0	1	0	0	2	3	1	1	1	1	2	1	1	1	4	4			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr1:153410763C>T	ENST00000368725.2	-	2	75	c.76G>A	c.(76-78)Gcg>Acg	p.A26T		NM_001045479.1	NP_001038944.2			S100 calcium binding protein A7-like 2									p.A15T(1)|p.A26T(1)		NS(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CGAAACATCGCGACTATGTCC	0.433													16	160					0	0	1	0	0	T	153410763	C	T	153410763	3	4	55	1	0	0	0	0	1	0	0	0	13837	768	27	1	270	1	S100A7L2	1	153410763	Missense_Mutation	SNP	C	TCGA-EJ-5518-01A-01D-1576-08	1219507	153410763	95839858	5	2740											
CD1E	913	broad.mit.edu	37	chr1	158325960	158325960	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctggggcttttgagtgtgggGctgaggaaatgggtaggaat	8	11	19	3	0	0	2	0	2	0	0	0	4	0	4	0	7	0	3	0	7	3	3			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr1:158325960G>A	ENST00000434258.1	+	4	974	c.963G>A	c.(961-963)ggG>ggA	p.G321G	CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368160.3_Intron|CD1E_ENST00000368165.3_Intron|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000368163.3_Intron|CD1E_ENST00000368167.3_Intron|CD1E_ENST00000368161.3_Intron|CD1E_ENST00000452291.2_Intron			P15812	CD1E_HUMAN	CD1e molecule	0					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					TGAGTGTGGGGCTGAGGAAAT	0.428													8	23					0	0	1	0	0	A	158325960	G	A	158325960	2	1	55	1	0	0	0	0	0	0	0	1	3000	1218	42	2		2	CD1E	1	158325960	Silent	SNP	G	TCGA-EJ-5518-01A-01D-1576-08	4915197	158325960	90924661	6	2741											
CEP170	9859	broad.mit.edu	37	chr1	243327906	243327906	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagcaacagatgctttgtcaGcatcagcaagttcactgtct	12	11	8	10	0	4	1	3	0	1	1	4	1	4	1	0	0	5	5	0	0	3	2			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr1:243327906G>T	ENST00000366542.1	-	13	3407	c.3356C>A	c.(3355-3357)gCt>gAt	p.A1119D	CEP170_ENST00000366544.1_Missense_Mutation_p.A1021D|CEP170_ENST00000366543.1_Missense_Mutation_p.A1021D	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	1119	Targeting to centrosomes.|Targeting to microtubules.					centriole|microtubule|spindle		p.A1119D(1)		NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TGCTTTGTCAGCATCAGCAAG	0.478													15	47					2.31682e-05	2.51261e-05	1	1	0	T	243327906	G	T	243327906	3	4	55	1	0	0	0	0	1	0	0	0	3272	971	34	4	1460	4	CEP170	1	243327906	Missense_Mutation	SNP	G	TCGA-EJ-5518-01A-01D-1576-08	85001946	243327906	5922715	7	2742											
DNMT3A	1788	broad.mit.edu	37	chr2	25469138	25469138	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcagctgcctcaggttccacCcacatgtccgtgtacacttc	7	10	8	16	1	1	0	1	0	0	0	4	0	3	0	4	1	3	4	4	1	1	3			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr2:25469138C>T	ENST00000264709.3	-	11	1657	c.1320G>A	c.(1318-1320)tgG>tgA	p.W440*	DNMT3A_ENST00000380746.4_Nonsense_Mutation_p.W251*|DNMT3A_ENST00000321117.5_Nonsense_Mutation_p.W440*|DNMT3A_ENST00000402667.1_Nonsense_Mutation_p.W217*	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	440					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	p.W440*(1)|p.W251*(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGGTTCCACCCACATGTCCG	0.547			"Mis, F, N, S"		AML								61	146					0	0	1	0	0	T	25469138	C	T	25469138	4	4	55	1	0	0	0	0	0	1	0	0	4703	624	22	2	1470	2	DNMT3A	2	25469138	Nonsense_Mutation	SNP	C	TCGA-EJ-5518-01A-01D-1576-08		25469138	217730235	8	2743											
BRE	9577	broad.mit.edu	37	chr2	28117448	28117448	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccagaagtggccttgaacCgaatatctccaatgctctcc	10	9	7	15	1	2	2	0	1	2	1	4	3	2	2	6	1	2	1	6	1	5	2			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr2:28117448C>T	ENST00000344773.2	+	2	163	c.25C>T	c.(25-27)Cga>Tga	p.R9*	BRE_ENST00000379624.1_Nonsense_Mutation_p.R9*|BRE_ENST00000379632.2_Nonsense_Mutation_p.R9*|BRE_ENST00000361704.2_Nonsense_Mutation_p.R9*|BRE_ENST00000342045.2_Nonsense_Mutation_p.R9*|BRE_ENST00000603461.1_Intron	NM_004899.4	NP_004890.2	Q9NXR7	BRE_HUMAN	brain and reproductive organ-expressed (TNFRSF1A modulator)	9					apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding	p.R9*(2)		NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					GGCCTTGAACCGAATATCTCC	0.418													80	268					0	0	1	0	0	T	28117448	C	T	28117448	4	4	55	1	0	0	0	0	0	1	0	0	1511	644	23	1	27	1	BRE	2	28117448	Nonsense_Mutation	SNP	C	TCGA-EJ-5518-01A-01D-1576-08	2648310	28117448	215081925	9	2744											
PRKAG3	53632	broad.mit.edu	37	chr2	219691759	219691759	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agccaagtctcggaatgtgcCgatgcccaaatcttggatag	11	9	11	10	2	2	0	0	0	2	0	3	3	2	2	3	2	3	0	3	2	4	2			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr2:219691759C>T	ENST00000439262.2	-	10	1080	c.985G>A	c.(985-987)Ggc>Agc	p.G329S	PRKAG3_ENST00000545803.1_Missense_Mutation_p.G170S|PRKAG3_ENST00000529249.1_Missense_Mutation_p.G354S|PRKAG3_ENST00000392098.3_Silent_p.S338S	NM_017431.2	NP_059127.2	Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	354	CBS 2.				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding	p.G354S(1)		large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGGAATGTGCCGATGCCCAAA	0.597													38	143					0	0	1	0	0	T	219691759	C	T	219691759	3	4	55	1	0	0	0	0	1	0	0	0	12554	652	23	1	425	1	PRKAG3	2	219691759	Missense_Mutation	SNP	C	TCGA-EJ-5518-01A-01D-1576-08	191574311	219691759	23507614	10	2745											
C2orf54	79919	broad.mit.edu	37	chr2	241831176	241831176	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcaggctggccgcgttcagCgaacctgcaaagacccaagt	10	6	11	14	3	2	1	2	0	0	1	2	2	2	1	3	2	3	3	3	2	3	1			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr2:241831176C>T	ENST00000307486.8	-	2	170	c.72G>A	c.(70-72)tcG>tcA	p.S24S	C2orf54_ENST00000402775.2_Silent_p.S5S|C2orf54_ENST00000388934.4_Silent_p.S173S			Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	173								p.S173S(1)		haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		CCGCGTTCAGCGAACCTGCAA	0.647													20	55					0	0	1	0	0	T	241831176	C	T	241831176	2	4	55	1	0	0	0	0	0	0	0	1	2189	755	27	1		1	C2orf54	2	241831176	Silent	SNP	C	TCGA-EJ-5518-01A-01D-1576-08	22139417	241831176	1368197	11	2746											
DCLK3	85443	broad.mit.edu	37	chr3	36778888	36778888	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagatttccatgtctgtttcGtagacttcatgcaatttcac	9	17	6	9	1	3	2	2	0	1	2	5	2	4	2	1	0	1	3	1	0	3	6			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr3:36778888G>A	ENST00000416516.2	-	2	1753	c.1263C>T	c.(1261-1263)taC>taT	p.Y421Y		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	421	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	p.Y421Y(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TGTCTGTTTCGTAGACTTCAT	0.502													19	95					0	0	1	0	0	A	36778888	G	A	36778888	2	1	55	1	0	0	0	0	0	0	0	1	4316	1140	40	1		1	DCLK3	3	36778888	Silent	SNP	G	TCGA-EJ-5518-01A-01D-1576-08		36778888	161243542	12	2747											
GOLGB1	2804	broad.mit.edu	37	chr3	121413151	121413151	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcttgtgcctttttgcggtgTtcaactgcttgagccagatt	5	16	11	9	1	1	2	1	1	0	1	1	2	1	2	2	1	5	3	2	1	1	6			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr3:121413151T>C	ENST00000393667.3	-	13	6329	c.6219A>G	c.(6217-6219)gaA>gaG	p.E2073E	GOLGB1_ENST00000340645.5_Silent_p.E2068E	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	2068					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	p.E2068E(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTTTGCGGTGTTCAACTGCTT	0.403													4	317					0	0	1	0	0	C	121413151	T	C	121413151	2	2	55	1	0	0	0	0	0	0	0	1	6604	1722	60	3		3	GOLGB1	3	121413151	Silent	SNP	T	TCGA-EJ-5518-01A-01D-1576-08	84634263	121413151	76609279	13	2748											
BCL6	604	broad.mit.edu	37	chr3	187451335	187451335	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cctcacctgcaggccatgagGaccgttttatgggctctaaa	9	10	10	12	1	2	1	1	1	1	0	2	2	2	2	4	3	1	3	4	3	3	3			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr3:187451335G>A	ENST00000406870.2	-	3	513	c.147C>T	c.(145-147)gtC>gtT	p.V49V	BCL6_ENST00000232014.4_Silent_p.V49V|RP11-211G3.3_ENST00000449623.1_Silent_p.R51R|BCL6_ENST00000450123.2_Silent_p.V49V	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	49	BTB.				negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V49V(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		AGGCCATGAGGACCGTTTTAT	0.507			"T, Mis"	"IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"	"NHL, CLL"								11	190					0	0	1	0	0	A	187451335	G	A	187451335	2	1	55	1	0	0	0	0	0	0	0	1	1374	1161	41	2		2	BCL6	3	187451335	Silent	SNP	G	TCGA-EJ-5518-01A-01D-1576-08	66038184	187451335	10571095	14	2749											
WDFY3	23001	broad.mit.edu	37	chr4	85603587	85603587	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttcagcaggctcaggagctgGtgtttcaggaacttgcaaaa	11	10	12	8	0	3	0	3	0	0	0	3	2	3	2	0	4	4	5	0	4	3	3			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr4:85603587G>A	ENST00000322366.6	-	63	10119	c.9712C>T	c.(9712-9714)Cca>Tca	p.P3238S	WDFY3_ENST00000295888.4_Missense_Mutation_p.P3255S			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	3255						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	p.P3255S(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TCAGGAGCTGGTGTTTCAGGA	0.318													21	75					0	0	1	0	0	A	85603587	G	A	85603587	3	1	55	1	0	0	0	0	1	0	0	0	17330	1261	44	2	837	2	WDFY3	4	85603587	Missense_Mutation	SNP	G	TCGA-EJ-5518-01A-01D-1576-08		85603587	105550689	15	2750											
GRID2	2895	broad.mit.edu	37	chr4	94376877	94376877	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaaaatgtggtggactttaCgacacgttacatggactact	12	12	10	7	2	0	1	0	1	0	0	0	4	0	3	0	3	3	1	0	3	5	4			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr4:94376877C>T	ENST00000282020.4	+	11	1868	c.1610C>T	c.(1609-1611)aCg>aTg	p.T537M	GRID2_ENST00000510992.1_Missense_Mutation_p.T442M	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	537					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.T537M(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GTGGACTTTACGACACGTTAC	0.433													46	114					0	0	1	0	0	T	94376877	C	T	94376877	3	4	55	1	0	0	0	0	1	0	0	0	6813	536	19	1	1652	1	GRID2	4	94376877	Missense_Mutation	SNP	C	TCGA-EJ-5518-01A-01D-1576-08	8773290	94376877	96777399	16	2751											
SCAMP1	9522	broad.mit.edu	37	chr5	77755186	77755186	+	Splice_Site	DEL	G	G	-																															cactagttatgttcaaaaaaGtaagtgaaattttatgtcta																										TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr5:77755186delG	ENST00000538629.1	+	8	1009		c.e8+1		SCAMP1_ENST00000339292.4_Splice_Site	NM_004866.4	NP_004857.4	O15126	SCAM1_HUMAN	secretory carrier membrane protein 1						post-Golgi vesicle-mediated transport|protein transport	integral to membrane|recycling endosome membrane|trans-Golgi network	protein binding						all_lung(232;0.000397)|Lung NSC(167;0.00105)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;1.9e-46)|Epithelial(54;9.4e-43)|all cancers(79;1.12e-37)		GTTCAAAAAAGTAAGTGAAAT	0.323													8	18	---	---	---	---						-	77755186	G	-	77755186	8	5	55	1	0	1	0	1	0	0	1	0	13923	1043	36	0	882	0	SCAMP1	5	77755186	Splice_Site	DEL	G	TCGA-EJ-5518-01A-01D-1576-08		77755186	103160074	17	2752											
RASGRF2	5924	broad.mit.edu	37	chr5	80513248	80513248	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttattgaagaaggaacaccaAactttactgaggaaggcctt	15	10	9	7	0	0	3	0	2	0	1	0	5	0	5	2	3	3	0	2	3	7	5			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr5:80513248A>C	ENST00000265080.4	+	25	3575	c.3508A>C	c.(3508-3510)Aac>Cac	p.N1170H	CTC-281B15.1_ENST00000503483.2_RNA|CTC-281B15.1_ENST00000511495.1_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	1170	Ras-GEF.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	p.N1170H(1)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		AGGAACACCAAACTTTACTGA	0.403													13	217					0	0	1	0	0	C	80513248	A	C	80513248	3	2	55	1	0	0	0	0	1	0	0	0	13125	14	1	5	3606	5	RASGRF2	5	80513248	Missense_Mutation	SNP	A	TCGA-EJ-5518-01A-01D-1576-08	2758062	80513248	100402012	18	2753											
FBN2	2201	broad.mit.edu	37	chr5	127855010	127855010	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acccataaacacaagcacagCggttgggtccgatgcaacgt	13	6	10	12	3	0	0	0	0	0	0	1	1	1	0	2	2	5	3	2	2	4	2			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr5:127855010C>T	ENST00000508053.1	-	11	1558	c.584G>A	c.(583-585)cGc>cAc	p.R195H	FBN2_ENST00000508989.1_Missense_Mutation_p.R162H|FBN2_ENST00000262464.4_Missense_Mutation_p.R195H			P35556	FBN2_HUMAN	fibrillin 2	195	EGF-like 3.			GPNR -> AQP (in Ref. 1; AAA18950).	bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.R195H(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ACAAGCACAGCGGTTGGGTCC	0.408													5	82					0	0	1	0	0	T	127855010	C	T	127855010	3	4	55	1	0	0	0	0	1	0	0	0	5736	768	27	1	8398	1	FBN2	5	127855010	Missense_Mutation	SNP	C	TCGA-EJ-5518-01A-01D-1576-08	47341762	127855010	53060250	19	2754											
SLC25A27	9481	broad.mit.edu	37	chr6	46623671	46623671	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gacggtgcaagagaatctgcCccctataggggaatggtgcg	10	7	15	9	2	1	1	0	0	1	1	1	4	1	2	2	4	3	1	2	4	5	2			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr6:46623671C>A	ENST00000371347.5	+	2	450	c.198C>A	c.(196-198)gcC>gcA	p.A66A	SLC25A27_ENST00000411689.2_Silent_p.A66A|SLC25A27_ENST00000452689.2_5'UTR	NM_001204051.1|NM_004277.4	NP_001190980.1|NP_004268.3	O95847	UCP4_HUMAN	solute carrier family 25, member 27	66					generation of precursor metabolites and energy|transport	integral to membrane|mitochondrial inner membrane		p.A66A(1)		central_nervous_system(1)|kidney(1)|lung(4)|prostate(1)|urinary_tract(1)	8			Lung(136;0.192)			GAGAATCTGCCCCCTATAGGG	0.502													4	140					0.014758	0.0153563	1	1	0	A	46623671	C	A	46623671	2	1	55	1	0	0	0	0	0	0	0	1	14545	610	22	4		4	SLC25A27	6	46623671	Silent	SNP	C	TCGA-EJ-5518-01A-01D-1576-08		46623671	124491396	20	2755											
ABCA13	154664	broad.mit.edu	37	chr7	48315047	48315047	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cataagatattaccgtttgtCccaccttcaataaatcaaac	15	12	3	11	1	2	1	2	0	0	1	3	1	3	1	3	0	2	1	3	0	7	6			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr7:48315047C>T	ENST00000435803.1	+	17	5808	c.5784C>T	c.(5782-5784)gtC>gtT	p.V1928V		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1928					transport	integral to membrane	ATP binding|ATPase activity	p.V1928V(2)|p.V1873V(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TACCGTTTGTCCCACCTTCAA	0.363													88	250					0	0	1	0	0	T	48315047	C	T	48315047	2	4	55	1	0	0	0	0	0	0	0	1	31	842	30	2		2	ABCA13	7	48315047	Silent	SNP	C	TCGA-EJ-5518-01A-01D-1576-08		48315047	110823616	21	2756											
LRRC17	10234	broad.mit.edu	37	chr7	102574825	102574825	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcatttacacacctctcttGagctacctgcgtctttatga	8	16	5	12	1	3	2	1	2	2	0	4	2	3	2	2	0	4	1	2	0	3	7			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr7:102574825G>C	ENST00000249377.4	+	2	746	c.465G>C	c.(463-465)ttG>ttC	p.L155F	LRRC17_ENST00000339431.4_Missense_Mutation_p.L155F|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000436908.1_Intron	NM_005824.2	NP_005815.2	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17	155					bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space		p.L155F(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						CACCTCTCTTGAGCTACCTGC	0.458													41	120					0	0	1	0	0	C	102574825	G	C	102574825	3	2	55	1	0	0	0	0	1	0	0	0	9018	1281	45	4	467	4	LRRC17	7	102574825	Missense_Mutation	SNP	G	TCGA-EJ-5518-01A-01D-1576-08	54259778	102574825	56563838	22	2757											
ADAMTS13	11093	broad.mit.edu	37	chr9	136324223	136324223	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaggctcaggccagcctgcGgggccagtactggaccctcc	7	5	14	15	1	1	0	1	0	0	0	2	2	2	1	5	5	3	2	5	5	2	1			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr9:136324223G>A	ENST00000371929.3	+	29	4649	c.4205G>A	c.(4204-4206)cGg>cAg	p.R1402Q	ADAMTS13_ENST00000355699.2_Missense_Mutation_p.R1346Q|ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.R1315Q|ADAMTS13_ENST00000371910.1_Missense_Mutation_p.R198Q|ADAMTS13_ENST00000371916.1_3'UTR	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	1402	CUB 2.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding	p.R1402Q(2)		central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GCCAGCCTGCGGGGCCAGTAC	0.587													7	26					0	0	1	0	0	A	136324223	G	A	136324223	3	1	55	1	0	0	0	0	1	0	0	0	257	1116	39	1	4319	1	ADAMTS13	9	136324223	Missense_Mutation	SNP	G	TCGA-EJ-5518-01A-01D-1576-08		136324223	4889208	23	2758											
SUPV3L1	6832	broad.mit.edu	37	chr10	70940278	70940278	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcagggccccagcgccgaCggcgacgtcggggccgagct	5	3	16	17	7	1	0	1	0	0	0	2	3	1	0	5	4	2	1	5	4	0	0			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr10:70940278C>T	ENST00000359655.4	+	1	291	c.231C>T	c.(229-231)gaC>gaT	p.D77D	SUPV3L1_ENST00000483572.1_3'UTR	NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	77					DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding	p.D77D(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCAGCGCCGACGGCGACGTCG	0.652													31	78					0	0	1	0	0	T	70940278	C	T	70940278	2	4	55	1	0	0	0	0	0	0	0	1	15458	535	19	1		1	SUPV3L1	10	70940278	Silent	SNP	C	TCGA-EJ-5518-01A-01D-1576-08		70940278	64594469	24	2759											
IFIT1	3434	broad.mit.edu	37	chr10	91162072	91162072	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatcaggtcaaggatagtCtggagcaattgagatgtcac	13	10	11	7	0	5	1	4	1	1	1	5	4	5	3	0	3	1	1	0	3	3	2			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr10:91162072C>A	ENST00000371804.3	+	2	207	c.40C>A	c.(40-42)Ctg>Atg	p.L14M	IFIT1_ENST00000546318.1_5'UTR|LIPA_ENST00000371837.1_Intron	NM_001270927.1|NM_001548.3	NP_001257856.1|NP_001539.3	P09914	IFIT1_HUMAN	interferon-induced protein with tetratricopeptide repeats 1	14					cellular response to exogenous dsRNA|intracellular transport of viral proteins in host cell|negative regulation of defense response to virus by host|negative regulation of helicase activity|negative regulation of protein binding|negative regulation of viral genome replication|positive regulation of viral genome replication|response to virus|type I interferon-mediated signaling pathway	cytoplasm	protein binding	p.L14M(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						CAAGGATAGTCTGGAGCAATT	0.353													17	144					4.7546e-09	5.38389e-09	1	1	0	A	91162072	C	A	91162072	3	1	55	1	0	0	0	0	1	0	0	0	7565	912	32	4	46	4	IFIT1	10	91162072	Missense_Mutation	SNP	C	TCGA-EJ-5518-01A-01D-1576-08	20221794	91162072	44372675	25	2760											
C10orf76	79591	broad.mit.edu	37	chr10	103789494	103789494	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggactcctcgaatgagtgcGcacagggtctgcagaaatga	11	8	13	9	2	1	3	0	2	1	1	3	5	2	4	1	2	2	2	1	2	2	0			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr10:103789494G>A	ENST00000370033.4	-	5	434	c.315C>T	c.(313-315)tgC>tgT	p.C105C	C10orf76_ENST00000311122.5_Silent_p.C105C	NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	105						integral to membrane		p.C105C(2)		autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		GAATGAGTGCGCACAGGGTCT	0.483													4	141					0	0	1	0	0	A	103789494	G	A	103789494	2	1	55	1	0	0	0	0	0	0	0	1	1620	1079	38	1		1	C10orf76	10	103789494	Silent	SNP	G	TCGA-EJ-5518-01A-01D-1576-08	12627422	103789494	31745253	26	2761											
OR4A15	81328	broad.mit.edu	37	chr11	55135714	55135714	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttgctctctgagaaaaagAccatttcctttcagggttgt	10	14	8	9	0	2	2	1	1	1	2	4	3	3	2	2	1	1	2	2	1	2	4			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr11:55135714A>T	ENST00000314706.3	+	1	355	c.355A>T	c.(355-357)Acc>Tcc	p.T119S		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T119S(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TGAGAAAAAGACCATTTCCTT	0.388													11	364					0	0	1	0	0	T	55135714	A	T	55135714	3	4	55	1	0	0	0	0	1	0	0	0	11088	275	10	5	357	5	OR4A15	11	55135714	Missense_Mutation	SNP	A	TCGA-EJ-5518-01A-01D-1576-08		55135714	79870802	27	2762											
ATM	472	broad.mit.edu	37	chr11	108180931	108180931	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgatgctttctggctggattTaaattatctagaagttgcca	10	16	9	6	0	2	2	0	1	2	1	2	3	2	3	1	2	2	3	1	2	5	6			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr11:108180931T>C	ENST00000278616.4	+	39	6192	c.5807T>C	c.(5806-5808)tTa>tCa	p.L1936S	ATM_ENST00000452508.2_Missense_Mutation_p.L1936S|C11orf65_ENST00000525729.1_Intron	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	1936					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.L1936S(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TGGCTGGATTTAAATTATCTA	0.318			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			37	91					0	0	1	0	0	C	108180931	T	C	108180931	3	2	55	1	0	0	0	0	1	0	0	0	1108	1764	61	3	5957	3	ATM	11	108180931	Missense_Mutation	SNP	T	TCGA-EJ-5518-01A-01D-1576-08	53045217	108180931	26825585	28	2763											
USP28	57646	broad.mit.edu	37	chr11	113704218	113704218	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtctacaaattttctatttGatcccatcattagagcaaac	13	14	5	9	0	3	2	1	1	2	1	4	2	4	2	1	1	3	1	1	1	5	6			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr11:113704218G>C	ENST00000003302.4	-	7	751	c.683C>G	c.(682-684)tCa>tGa	p.S228*	USP28_ENST00000545540.1_Nonsense_Mutation_p.S103*|USP28_ENST00000260188.5_Nonsense_Mutation_p.S228*|USP28_ENST00000542033.1_5'UTR|USP28_ENST00000537706.1_Nonsense_Mutation_p.S228*	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	228					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.S228*(2)		breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		TTTTCTATTTGATCCCATCAT	0.383													5	123					0	0	1	0	0	C	113704218	G	C	113704218	4	2	55	1	0	0	0	0	0	1	0	0	17118	1294	45	4	2626	4	USP28	11	113704218	Nonsense_Mutation	SNP	G	TCGA-EJ-5518-01A-01D-1576-08	5523287	113704218	21302298	29	2764											
CDKN1B	1027	broad.mit.edu	37	chr12	12870993	12870994	+	Frame_Shift_Ins	INS	-	-	A																															caaacccctagagggcaagtINSacgagtggcaagaggtggag																										TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr12:12870993_12870994insA	ENST00000228872.4	+	1	936_937	c.220_221insA	c.(220-222)cgafs	p.R74fs	CDKN1B_ENST00000477087.1_Intron|CDKN1B_ENST00000396340.1_Frame_Shift_Ins_p.R74fs	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)	74					autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		AGAGGGCAAGTACGAGTGGCAA	0.589													49	50	---	---	---	---						A	12870994	-	A	12870993	7	5	55	1	0	1	1	0	0	0	0	0	3181	1638	57	0	222	0	CDKN1B	12	12870993	Frame_Shift_Ins	INS	-	TCGA-EJ-5518-01A-01D-1576-08		12870993	120980902	30	2765											
NAV3	89795	broad.mit.edu	37	chr12	78515855	78515855	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagtcaccgtcgtccggtacGggcagcatgggcagtgctgg	6	7	17	11	4	1	0	1	0	0	0	3	1	2	0	2	4	3	5	2	4	1	1			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr12:78515855G>T	ENST00000397909.2	+	16	4058	c.3885G>T	c.(3883-3885)acG>acT	p.T1295T	NAV3_ENST00000228327.6_Silent_p.T1295T|NAV3_ENST00000266692.7_Intron|NAV3_ENST00000536525.2_Silent_p.T1295T			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1295	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.T1295T(2)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CGTCCGGTACGGGCAGCATGG	0.532										HNSCC(70;0.22)			3	69					0.115264	0.118338	1	1	0	T	78515855	G	T	78515855	2	4	55	1	0	0	0	0	0	0	0	1	10233	1103	39	4		4	NAV3	12	78515855	Silent	SNP	G	TCGA-EJ-5518-01A-01D-1576-08	65644862	78515855	55336040	31	2766											
ISCU	23479	broad.mit.edu	37	chr12	108958127	108958127	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaaaaatgttggaactggaCtggtgggggctccagcatgt	10	10	14	7	0	0	0	0	0	0	0	1	2	1	2	1	5	2	3	1	5	4	2			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr12:108958127C>A	ENST00000535729.1	+	2	209	c.187C>A	c.(187-189)Ctg>Atg	p.L63M	ISCU_ENST00000338291.4_Missense_Mutation_p.L38M|ISCU_ENST00000539593.1_Missense_Mutation_p.L63M|ISCU_ENST00000392807.4_Missense_Mutation_p.L38M|ISCU_ENST00000431221.2_Missense_Mutation_p.L63M|ISCU_ENST00000547005.1_Missense_Mutation_p.L63M|ISCU_ENST00000311893.9_Missense_Mutation_p.L63M			Q9H1K1	ISCU_HUMAN	iron-sulfur cluster assembly enzyme	63					iron-sulfur cluster assembly|nitrogen fixation	cytosol|mitochondrion|nucleus	iron ion binding|iron-sulfur cluster binding|protein complex scaffold	p.L38M(1)		kidney(2)|large_intestine(2)|lung(4)|prostate(2)|urinary_tract(1)	11						TGGAACTGGACTGGTGGGGGC	0.373													22	78					8.24728e-16	9.62183e-16	1	1	0	A	108958127	C	A	108958127	3	1	55	1	0	0	0	0	1	0	0	0	7896	564	20	4	118	4	ISCU	12	108958127	Missense_Mutation	SNP	C	TCGA-EJ-5518-01A-01D-1576-08	30442272	108958127	24893768	32	2767											
FAM124A	220108	broad.mit.edu	37	chr13	51826251	51826251	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagggacataggcgagctcGtgcctctcctgcccaaccct	7	8	11	15	2	1	1	0	1	1	0	3	3	1	2	4	2	4	1	4	2	2	1	rs146463367		TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr13:51826251G>C	ENST00000322475.8	+	3	883	c.748G>C	c.(748-750)Gtg>Ctg	p.V250L	FAM124A_ENST00000280057.6_Missense_Mutation_p.V286L	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	250								p.V286L(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		AGGCGAGCTCGTGCCTCTCCT	0.632													9	36					0	0	1	0	0	C	51826251	G	C	51826251	3	2	55	1	0	0	0	0	1	0	0	0	5456	1145	40	4	870	4	FAM124A	13	51826251	Missense_Mutation	SNP	G	TCGA-EJ-5518-01A-01D-1576-08		51826251	63343627	33	2768											
MYH7	4625	broad.mit.edu	37	chr14	23885344	23885344	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caccctcagggcctcgttgcGgctgcgtgtctctgcgtcca	3	10	12	16	4	2	0	1	0	1	0	5	0	3	0	3	2	3	2	3	2	0	1			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr14:23885344G>A	ENST00000355349.3	-	34	4984	c.4822C>T	c.(4822-4824)Cgc>Tgc	p.R1608C		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1608					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.R1608C(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GCCTCGTTGCGGCTGCGTGTC	0.622													58	118					0	0	1	0	0	A	23885344	G	A	23885344	3	1	55	1	0	0	0	0	1	0	0	0	10087	1116	39	1	1013	1	MYH7	14	23885344	Missense_Mutation	SNP	G	TCGA-EJ-5518-01A-01D-1576-08		23885344	83464196	34	2769											
NUMB	8650	broad.mit.edu	37	chr14	73743464	73743464	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggccaacctgccatcaTctacaccattgaaagctgca	12	8	7	14	0	2	2	1	2	1	0	2	2	2	2	4	1	5	2	4	1	3	2			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr14:73743464T>G	ENST00000556772.1	-	7	3633	c.1346A>C	c.(1345-1347)gAt>gCt	p.D449A	NUMB_ENST00000560335.1_Missense_Mutation_p.D447A|NUMB_ENST00000356296.4_Missense_Mutation_p.D545A|NUMB_ENST00000559312.1_Missense_Mutation_p.D398A|NUMB_ENST00000557597.1_Missense_Mutation_p.D582A|NUMB_ENST00000355058.3_Missense_Mutation_p.D593A|NUMB_ENST00000359560.3_Missense_Mutation_p.D582A|NUMB_ENST00000555738.2_Missense_Mutation_p.D436A|NUMB_ENST00000555394.1_Missense_Mutation_p.D545A|NUMB_ENST00000555238.1_Missense_Mutation_p.D593A|NUMB_ENST00000554521.2_Missense_Mutation_p.D387A|NUMB_ENST00000554546.1_Missense_Mutation_p.D534A|NUMB_ENST00000544991.3_Missense_Mutation_p.D398A|NUMB_ENST00000535282.1_Missense_Mutation_p.D582A|NUMB_ENST00000454166.4_Missense_Mutation_p.D447A			P49757	NUMB_HUMAN	numb homolog (Drosophila)	593					axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis	integral to plasma membrane		p.D593A(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		CCTGCCATCATCTACACCATT	0.527													17	36					0	0	1	0	0	G	73743464	T	G	73743464	3	3	55	1	0	0	0	0	1	0	0	0	10799	1435	50	5	181	5	NUMB	14	73743464	Missense_Mutation	SNP	T	TCGA-EJ-5518-01A-01D-1576-08	49858120	73743464	33606076	35	2770											
EML5	161436	broad.mit.edu	37	chr14	89168815	89168815	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttgccacgtagtctttcAaaggatgaatagttaggcag	11	12	11	7	1	2	1	1	1	1	0	2	2	2	2	1	2	1	4	1	2	5	5			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr14:89168815A>G	ENST00000554922.1	-	14	2461	c.2213T>C	c.(2212-2214)tTg>tCg	p.L738S	EML5_ENST00000380664.5_Missense_Mutation_p.L738S|EML5_ENST00000352093.5_Missense_Mutation_p.L738S	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	738						cytoplasm|microtubule		p.L738S(2)		breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GTAGTCTTTCAAAGGATGAAT	0.388													8	58					0	0	1	0	0	G	89168815	A	G	89168815	3	3	55	1	0	0	0	0	1	0	0	0	5128	131	5	3	3840	3	EML5	14	89168815	Missense_Mutation	SNP	A	TCGA-EJ-5518-01A-01D-1576-08	15425351	89168815	18180725	36	2771											
DMXL2	23312	broad.mit.edu	37	chr15	51750826	51750826	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caatttcattacaatttgccTataaagcaaaggcagaatcg	16	11	6	8	1	1	1	1	0	0	1	2	1	1	1	1	1	3	2	1	1	8	5			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr15:51750826T>C	ENST00000251076.5	-	35	8298		c.e35-2		RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Splice_Site|RP11-707P17.2_ENST00000559977.1_RNA|RP11-707P17.2_ENST00000560727.1_RNA|DMXL2_ENST00000543779.2_Splice_Site|RP11-707P17.2_ENST00000559173.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2							cell junction|synaptic vesicle membrane	Rab GTPase binding	p.?(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		ACAATTTGCCTATAAAGCAAA	0.348													32	79					0	0	1	0	0	C	51750826	T	C	51750826	5	2	55	1	0	0	0	0	0	0	1	0	4623	1536	53	3	1137	3	DMXL2	15	51750826	Splice_Site	SNP	T	TCGA-EJ-5518-01A-01D-1576-08		51750826	50780566	37	2772											
UACA	55075	broad.mit.edu	37	chr15	70960502	70960502	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcagatgtgagagcgtgtaTtttctcctggtcttcaccac	7	15	9	10	1	4	2	2	1	2	2	5	3	4	2	2	1	1	1	2	1	1	5			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr15:70960502T>C	ENST00000322954.6	-	16	2706	c.2521A>G	c.(2521-2523)Ata>Gta	p.I841V	UACA_ENST00000560441.1_Missense_Mutation_p.I826V|UACA_ENST00000539319.1_Missense_Mutation_p.I732V|UACA_ENST00000379983.2_Missense_Mutation_p.I828V	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	841						cytoskeleton|extracellular region		p.I828V(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						AGAGCGTGTATTTTCTCCTGG	0.348													38	162					0	0	1	0	0	C	70960502	T	C	70960502	3	2	55	1	0	0	0	0	1	0	0	0	16885	1493	52	3	1745	3	UACA	15	70960502	Missense_Mutation	SNP	T	TCGA-EJ-5518-01A-01D-1576-08	19209676	70960502	31570890	38	2773											
LRRC49	54839	broad.mit.edu	37	chr15	71305231	71305231	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttaccccagtatcgtctgaTttccattctgggtgatgcca	7	14	9	11	1	2	2	0	2	2	0	4	2	3	2	4	1	2	2	4	1	2	4			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr15:71305231T>C	ENST00000260382.5	+	14	1942	c.1682T>C	c.(1681-1683)aTt>aCt	p.I561T	LRRC49_ENST00000560369.1_Missense_Mutation_p.I566T|LRRC49_ENST00000560691.1_Missense_Mutation_p.I267T|LRRC49_ENST00000560158.2_Missense_Mutation_p.I249T|LRRC49_ENST00000443425.2_Missense_Mutation_p.I517T|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000544974.2_Missense_Mutation_p.I551T	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	561						cytoplasm|microtubule		p.I561T(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						TATCGTCTGATTTCCATTCTG	0.373													44	146					0	0	1	0	0	C	71305231	T	C	71305231	3	2	55	1	0	0	0	0	1	0	0	0	9051	1493	52	3	1736	3	LRRC49	15	71305231	Missense_Mutation	SNP	T	TCGA-EJ-5518-01A-01D-1576-08	344729	71305231	31226161	39	2774											
SLC28A1	9154	broad.mit.edu	37	chr15	85467288	85467288	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagtccacgttgtcatgaccGgaggttacgccaccattgct	9	10	10	12	3	1	1	1	1	0	0	2	2	2	2	4	2	2	3	4	2	2	3	rs141708518		TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr15:85467288G>A	ENST00000394573.1	+	12	1232	c.1030G>A	c.(1030-1032)Gga>Aga	p.G344R	SLC28A1_ENST00000537216.1_Missense_Mutation_p.G344R|SLC28A1_ENST00000538177.1_Missense_Mutation_p.G344R|SLC28A1_ENST00000286749.3_Missense_Mutation_p.G344R|SLC28A1_ENST00000537624.1_Missense_Mutation_p.G344R|SLC28A1_ENST00000537703.1_Missense_Mutation_p.G266R	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	344					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding	p.G344R(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TGTCATGACCGGAGGTTACGC	0.552													3	103					0	0	1	0	0	A	85467288	G	A	85467288	3	1	55	1	0	0	0	0	1	0	0	0	14586	1117	39	1	1139	1	SLC28A1	15	85467288	Missense_Mutation	SNP	G	TCGA-EJ-5518-01A-01D-1576-08	14162057	85467288	17064104	40	2775											
PRKCB	5579	broad.mit.edu	37	chr16	23999908	23999908	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgacaagggtccagcctcCgatgtaagtaatgggcatcg	10	8	13	10	2	0	1	0	1	0	0	3	2	2	1	3	2	1	4	3	2	3	2			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr16:23999908C>T	ENST00000303531.7	+	3	437	c.285C>T	c.(283-285)tcC>tcT	p.S95S	PRKCB_ENST00000321728.7_Silent_p.S95S	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	95					apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	p.S95S(3)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	GTCCAGCCTCCGATGTAAGTA	0.483													4	89					0	0	1	0	0	T	23999908	C	T	23999908	2	4	55	1	0	0	0	0	0	0	0	1	12560	639	23	1		1	PRKCB	16	23999908	Silent	SNP	C	TCGA-EJ-5518-01A-01D-1576-08		23999908	66354845	41	2776											
ZNF629	23361	broad.mit.edu	37	chr16	30794780	30794780	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcccgcactcggggcacttgTagggtttctcgcctgtgtgg	3	12	14	12	3	1	0	0	0	1	0	4	0	2	0	2	4	0	4	2	4	1	3			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr16:30794780T>C	ENST00000262525.4	-	3	1076	c.869A>G	c.(868-870)tAc>tGc	p.Y290C		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	290					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Y290C(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			GGGGCACTTGTAGGGTTTCTC	0.647													3	70					0	0	1	0	0	C	30794780	T	C	30794780	3	2	55	1	0	0	0	0	1	0	0	0	18110	1638	57	3	1744	3	ZNF629	16	30794780	Missense_Mutation	SNP	T	TCGA-EJ-5518-01A-01D-1576-08	6794872	30794780	59559973	42	2777											
CDH13	1012	broad.mit.edu	37	chr16	83065742	83065742	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagtgggcaaaactctgttCgtccatgcacggacccccca	9	7	10	15	2	1	0	0	0	1	0	3	1	2	1	4	2	2	4	4	2	2	1			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr16:83065742C>T	ENST00000566620.1	+	3	575	c.285C>T	c.(283-285)ttC>ttT	p.F95F	CDH13_ENST00000431540.3_Silent_p.F95F|CDH13_ENST00000268613.10_Silent_p.F142F|CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000565636.1_Silent_p.F95F|CDH13_ENST00000446376.2_Silent_p.F95F|CDH13_ENST00000428848.3_Silent_p.F95F	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	95					adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding	p.F95F(2)		large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		AAACTCTGTTCGTCCATGCAC	0.522													7	33					0	0	1	0	0	T	83065742	C	T	83065742	2	4	55	1	0	0	0	0	0	0	0	1	3121	883	31	1		1	CDH13	16	83065742	Silent	SNP	C	TCGA-EJ-5518-01A-01D-1576-08	52270962	83065742	7289011	43	2778											
TMEM220	388335	broad.mit.edu	37	chr17	10628403	10628403	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaagccaacagcccacaccGtacaaaagagtatgtgtatt	15	7	7	12	1	0	1	0	0	0	1	0	1	0	1	4	0	4	3	4	0	7	4			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr17:10628403G>A	ENST00000341871.3	-	4	676	c.212C>T	c.(211-213)aCg>aTg	p.T71M	TMEM220_ENST00000578345.1_Missense_Mutation_p.T61M|TMEM220_ENST00000455996.2_Missense_Mutation_p.T61M|TMEM220_ENST00000580186.1_5'UTR	NM_001004313.1	NP_001004313.1	Q6QAJ8	TM220_HUMAN	transmembrane protein 220	71						integral to membrane		p.T71M(1)		kidney(1)|large_intestine(1)|lung(1)|prostate(2)	5						AGCCCACACCGTACAAAAGAG	0.448													4	137					0	0	1	0	0	A	10628403	G	A	10628403	3	1	55	1	0	0	0	0	1	0	0	0	16204	1145	40	1	282	1	TMEM220	17	10628403	Missense_Mutation	SNP	G	TCGA-EJ-5518-01A-01D-1576-08		10628403	70566807	44	2779											
NCOR1	9611	broad.mit.edu	37	chr17	15995320	15995320	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taatgtgtcgctggtagagaGcatagccgctcactggggtt	8	11	14	8	2	1	1	1	0	0	1	2	2	1	1	1	3	2	5	1	3	3	4			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr17:15995320G>A	ENST00000268712.3	-	22	3130	c.2873C>T	c.(2872-2874)gCt>gTt	p.A958V	NCOR1_ENST00000395851.1_Missense_Mutation_p.A974V|NCOR1_ENST00000395848.1_Missense_Mutation_p.A865V	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	958					cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	p.A958V(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CTGGTAGAGAGCATAGCCGCT	0.428													4	166					0	0	1	0	0	A	15995320	G	A	15995320	3	1	55	1	0	0	0	0	1	0	0	0	10282	971	34	2	4549	2	NCOR1	17	15995320	Missense_Mutation	SNP	G	TCGA-EJ-5518-01A-01D-1576-08	5366917	15995320	65199890	45	2780											
UBB	7314	broad.mit.edu	37	chr17	16285790	16285790	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agataaagaaggcatcccccCcgaccagcagaggctcatct	13	5	9	14	1	2	3	1	0	1	3	3	4	3	3	4	2	1	3	4	2	3	1			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr17:16285790C>A	ENST00000302182.3	+	2	961	c.569C>A	c.(568-570)cCc>cAc	p.P190H	UBB_ENST00000578649.1_3'UTR|UBB_ENST00000395837.1_Missense_Mutation_p.P190H|UBB_ENST00000395839.1_Missense_Mutation_p.P190H|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000535788.1_Missense_Mutation_p.P114H	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN	ubiquitin B	190	Ubiquitin-like 3.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	p.P190H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		GGCATCCCCCCCGACCAGCAG	0.552													3	80					1	1	1	1	0	A	16285790	C	A	16285790	3	1	55	1	0	0	0	0	1	0	0	0	16902	623	22	4	571	4	UBB	17	16285790	Missense_Mutation	SNP	C	TCGA-EJ-5518-01A-01D-1576-08	290470	16285790	64909420	46	2781											
HOXB13	10481	broad.mit.edu	37	chr17	46804355	46804355	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtacggaatgcgtttctTgcggccgcgacgaaaggcgc	7	8	15	11	7	1	0	0	0	1	0	1	3	1	1	1	3	3	3	1	3	3	3			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr17:46804355T>C	ENST00000290295.7	-	2	1236	c.652A>G	c.(652-654)Aag>Gag	p.K218E		NM_006361.5	NP_006352.2	Q92826	HXB13_HUMAN	homeobox B13	218					angiogenesis|epidermis development|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.K218E(1)		endometrium(2)|kidney(2)|lung(6)|prostate(1)	11						ATGCGTTTCTTGCGGCCGCGA	0.622													20	67					0	0	1	0	0	C	46804355	T	C	46804355	3	2	55	1	0	0	0	0	1	0	0	0	7341	1821	63	3	206	3	HOXB13	17	46804355	Missense_Mutation	SNP	T	TCGA-EJ-5518-01A-01D-1576-08	30518565	46804355	34390855	47	2782											
SEC14L1	6397	broad.mit.edu	37	chr17	75205504	75205504	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagaacgaagacctgaagctCtggactgagaccatctacca	14	6	10	11	1	2	4	0	2	2	3	2	8	2	5	3	1	3	1	3	1	4	1			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr17:75205504C>G	ENST00000413679.2	+	14	1860	c.1557C>G	c.(1555-1557)ctC>ctG	p.L519L	SEC14L1_ENST00000585618.1_Silent_p.L519L|SEC14L1_ENST00000392476.2_Silent_p.L519L|SEC14L1_ENST00000431431.2_Silent_p.L485L|SEC14L1_ENST00000591437.1_Silent_p.L485L|SEC14L1_ENST00000436233.4_Silent_p.L519L|SEC14L1_ENST00000443798.4_Silent_p.L519L|SEC14L1_ENST00000430767.4_Silent_p.L519L	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470.1|NP_001137471.1|NP_002994.3	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	519					transport	Golgi apparatus|integral to membrane	binding	p.L519L(1)		NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						ACCTGAAGCTCTGGACTGAGA	0.587													9	30					0	0	1	0	0	G	75205504	C	G	75205504	2	3	55	1	0	0	0	0	0	0	0	1	14035	900	32	4		4	SEC14L1	17	75205504	Silent	SNP	C	TCGA-EJ-5518-01A-01D-1576-08	28401149	75205504	5989706	48	2783											
ANKRD24	170961	broad.mit.edu	37	chr19	4207577	4207577	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctactgcagcaaggggctgCcgcgaacgatcaggacctgc	9	5	13	14	3	1	0	1	0	0	0	1	3	1	1	3	3	6	3	3	3	3	1			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr19:4207577C>T	ENST00000600132.1	+	9	893	c.617C>T	c.(616-618)gCc>gTc	p.A206V	ANKRD24_ENST00000318934.4_Missense_Mutation_p.A206V|ANKRD24_ENST00000262970.5_Missense_Mutation_p.A296V	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	206								p.A98V(1)|p.A296V(1)|p.A206V(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		CAAGGGGCTGCCGCGAACGAT	0.577											OREG0025162	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	81					0	0	1	0	0	T	4207577	C	T	4207577	3	4	55	1	0	0	0	0	1	0	0	0	649	739	26	2	647	2	ANKRD24	19	4207577	Missense_Mutation	SNP	C	TCGA-EJ-5518-01A-01D-1576-08		4207577	54921406	49	2784											
OR7A5	26659	broad.mit.edu	37	chr19	14938449	14938449	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccacccagcagcgcaactGtaaaatatatcaccatgtga	14	8	6	13	1	1	1	1	1	0	0	2	1	2	1	3	0	3	3	3	0	5	3			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr19:14938449G>T	ENST00000322301.3	-	2	692	c.605C>A	c.(604-606)aCa>aAa	p.T202K	OR7A5_ENST00000601611.1_Intron|OR7A5_ENST00000594432.1_Missense_Mutation_p.T202K			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T202K(1)		breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						CAGCGCAACTGTAAAATATAT	0.428													5	95					1.23904e-05	1.36294e-05	1	1	0	T	14938449	G	T	14938449	3	4	55	1	0	0	0	0	1	0	0	0	11263	1377	48	4	358	4	OR7A5	19	14938449	Missense_Mutation	SNP	G	TCGA-EJ-5518-01A-01D-1576-08	10730872	14938449	44190534	50	2785											
ZNF492	57615	broad.mit.edu	37	chr19	22836775	22836775	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtctggagcaaggaaaagaaCcttggaatgtgaagagacat	16	7	13	5	0	1	3	0	1	1	2	1	7	1	6	1	3	2	1	1	3	6	1			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr19:22836775C>T	ENST00000456783.2	+	3	332	c.88C>T	c.(88-90)Cct>Tct	p.P30S		NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	30	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P30S(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				AGGAAAAGAACCTTGGAATGT	0.423													42	102					0	0	1	0	0	T	22836775	C	T	22836775	3	4	55	1	0	0	0	0	1	0	0	0	18000	507	18	2	94	2	ZNF492	19	22836775	Missense_Mutation	SNP	C	TCGA-EJ-5518-01A-01D-1576-08	7898326	22836775	36292208	51	2786											
MAP4K1	11184	broad.mit.edu	37	chr19	39088138	39088138	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggtaccttgccagtaggCggtgggggctaatgtgagcg	6	9	18	8	2	0	1	0	1	0	0	0	1	0	1	2	5	3	4	2	5	3	4			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr19:39088138C>T	ENST00000591517.1	-	23	1794	c.1766G>A	c.(1765-1767)cGc>cAc	p.R589H	MAP4K1_ENST00000586296.1_Intron|MAP4K1_ENST00000589130.1_Missense_Mutation_p.R585H|MAP4K1_ENST00000396857.2_Missense_Mutation_p.R589H|MAP4K1_ENST00000423454.2_Missense_Mutation_p.A231T|CTB-186G2.1_ENST00000589557.1_RNA	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	589	CNH.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity	p.R589H(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TGCCAGTAGGCGGTGGGGGCT	0.572													4	142					0	0	1	0	0	T	39088138	C	T	39088138	3	4	55	1	0	0	0	0	1	0	0	0	9309	768	27	1	837	1	MAP4K1	19	39088138	Missense_Mutation	SNP	C	TCGA-EJ-5518-01A-01D-1576-08	16251363	39088138	20040845	52	2787											
CEACAM6	4680	broad.mit.edu	37	chr19	42260828	42260828	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaagtcataaagtcagatCttgtgaatgaagaagcaacc	17	9	8	7	0	3	4	2	2	1	2	3	4	3	4	1	0	3	1	1	0	8	3			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr19:42260828C>A	ENST00000199764.6	+	2	603	c.385C>A	c.(385-387)Ctt>Att	p.L129I	CEA_ENST00000598976.1_Intron	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	129	Ig-like V-type.				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane		p.L129I(1)		breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		AAAGTCAGATCTTGTGAATGA	0.473													6	480					2.0095e-06	2.24248e-06	1	1	0	A	42260828	C	A	42260828	3	1	55	1	0	0	0	0	1	0	0	0	3218	913	32	4	391	4	CEACAM6	19	42260828	Missense_Mutation	SNP	C	TCGA-EJ-5518-01A-01D-1576-08	3172690	42260828	16868155	53	2788											
LIMK2	3985	broad.mit.edu	37	chr22	31662009	31662009	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttcagccgtgacatcagccGctcagaatcccttcgttgtt	7	12	9	13	3	3	2	3	1	0	1	5	2	4	2	3	0	2	4	3	0	1	4			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chr22:31662009G>T	ENST00000331728.4	+	8	1046	c.932G>T	c.(931-933)cGc>cTc	p.R311L	LIMK2_ENST00000444929.2_Missense_Mutation_p.R65L|LIMK2_ENST00000340552.4_Missense_Mutation_p.R290L|LIMK2_ENST00000406516.1_Missense_Mutation_p.R233L|LIMK2_ENST00000333611.4_Missense_Mutation_p.R290L	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	311						mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding	p.R311L(2)		endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						GACATCAGCCGCTCAGAATCC	0.582													3	98					0.150653	0.152636	1	1	0	T	31662009	G	T	31662009	3	4	55	1	0	0	0	0	1	0	0	0	8842	1087	38	4	1019	4	LIMK2	22	31662009	Missense_Mutation	SNP	G	TCGA-EJ-5518-01A-01D-1576-08		31662009	19642557	54	2789											
ATXN3L	92552	broad.mit.edu	37	chrX	13337265	13337265	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatgtctttggaagatcttgCgatgtgtttccggaactacc	8	14	11	8	2	2	1	0	0	2	1	3	5	3	3	2	2	3	1	2	2	3	4			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chrX:13337265C>T	ENST00000380622.2	-	1	1253	c.789G>A	c.(787-789)tcG>tcA	p.S263S	GS1-600G8.3_ENST00000431486.1_RNA	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	263					protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity	p.S263S(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						GAAGATCTTGCGATGTGTTTC	0.433													203	192					0	0	1	0	0	T	13337265	C	T	13337265	2	4	55	1	0	0	0	0	0	0	0	1	1212	755	27	1		1	ATXN3L	23	13337265	Silent	SNP	C	TCGA-EJ-5518-01A-01D-1576-08		13337265	141933295	55	2790											
PCDH19	57526	broad.mit.edu	37	chrX	99551705	99551705	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttggtggggccgcagtcgTcataagcctcgacatcagca	8	9	13	11	3	2	0	2	0	0	0	4	1	2	0	2	3	2	3	2	3	1	2			TCGA-EJ-5518-01A-01D-1576-08	TCGA-EJ-5518-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4377528-6017-41d2-ae39-1f280a2294ad	3c8b1c7e-e15b-49d4-b5bb-4f4a05e92f20	g.chrX:99551705T>C	ENST00000373034.4	-	6	4692	c.3017A>G	c.(3016-3018)gAc>gGc	p.D1006G	PCDH19_ENST00000255531.7_Missense_Mutation_p.D959G|PCDH19_ENST00000420881.2_Missense_Mutation_p.D958G	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	1006					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D1006G(1)|p.D459G(1)		breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GCCGCAGTCGTCATAAGCCTC	0.577													3	52					0	0	1	0	0	C	99551705	T	C	99551705	3	2	55	1	0	0	0	0	1	0	0	0	11561	1667	58	3	433	3	PCDH19	23	99551705	Missense_Mutation	SNP	T	TCGA-EJ-5518-01A-01D-1576-08	86214440	99551705	55718855	56	2791											
INADL	10207	broad.mit.edu	37	chr1	62456031	62456031	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcgtattggagatgaactcTtagaggtgagaagcatgtgt	11	12	14	4	1	1	4	0	2	1	3	1	6	1	4	0	2	3	2	0	2	4	3			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:62456031T>G	ENST00000371158.2	+	28	3976	c.3862T>G	c.(3862-3864)Tta>Gta	p.L1288V	INADL_ENST00000545929.1_5'UTR|INADL_ENST00000543708.1_Missense_Mutation_p.L72V|INADL_ENST00000316485.6_Missense_Mutation_p.L1288V	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1288	PDZ 7.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	p.L1288V(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						AGATGAACTCTTAGAGGTGAG	0.443													8	54					0	0	1	0	0	G	62456031	T	G	62456031	3	3	56	1	0	0	0	0	1	0	0	0	7775	1606	56	5	3968	5	INADL	1	62456031	Missense_Mutation	SNP	T	TCGA-EJ-5519-01A-01D-1576-08		62456031	186794590	1	2792											
ZZZ3	26009	broad.mit.edu	37	chr1	78098722	78098723	+	Frame_Shift_Del	DEL	TC	TC	-																															gaaacaggttctgtttgcctTctctcacaattttctatagc																										TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:78098722_78098723delTC	ENST00000370801.3	-	5	792_793	c.317_318delGA	c.(316-318)afs	p.R107fs	ZZZ3_ENST00000370798.1_Intron	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	107					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						CTGTTTGCCTTCTCTCACAATT	0.391													117	268	---	---	---	---						-	78098723	TC	-	78098722	7	5	56	1	0	1	0	1	0	0	0	0	18296	1780	62	0	2437	0	ZZZ3	1	78098722	Frame_Shift_Del	DEL	TC	TCGA-EJ-5519-01A-01D-1576-08	15642691	78098722	171151899	2	2793											
MCOLN3	55283	broad.mit.edu	37	chr1	85510885	85510885	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggttttctacctcgagcccaGaacttctcacagggattcat	9	12	8	12	1	3	1	2	0	2	1	5	3	3	2	2	2	3	1	2	2	2	5			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:85510885G>A	ENST00000370587.1	-	3	535	c.159C>T	c.(157-159)ttC>ttT	p.F53F	WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000341115.4_Silent_p.F53F|MCOLN3_ENST00000370589.2_Silent_p.F53F			Q8TDD5	MCLN3_HUMAN	mucolipin 3	53						integral to membrane	ion channel activity	p.F53F(1)		endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		CTCGAGCCCAGAACTTCTCAC	0.393													7	140					0	0	1	0	0	A	85510885	G	A	85510885	2	1	56	1	0	0	0	0	0	0	0	1	9447	933	33	2		2	MCOLN3	1	85510885	Silent	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	7412163	85510885	163739736	3	2794											
KCND3	3752	broad.mit.edu	37	chr1	112318709	112318709	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tccagtggttttacaaggcgGagaccttgacaacattgctg	10	11	11	9	1	0	2	0	1	0	1	1	3	1	2	2	3	3	2	2	3	3	4			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:112318709G>C	ENST00000369697.1	-	6	1970	c.1901C>G	c.(1900-1902)tCc>tGc	p.S634C	KCND3_ENST00000302127.4_Missense_Mutation_p.S634C|KCND3_ENST00000315987.2_Missense_Mutation_p.S653C			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	653						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding	p.S634C(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		TTACAAGGCGGAGACCTTGAC	0.612													29	82					0	0	1	0	0	C	112318709	G	C	112318709	3	2	56	1	0	0	0	0	1	0	0	0	8064	1174	41	4	13	4	KCND3	1	112318709	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	26807824	112318709	136931912	4	2795											
NOTCH2	4853	broad.mit.edu	37	chr1	120479922	120479922	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctcgcatctgtatccacCaatgaagtcactgcatgttg	10	11	7	13	1	2	1	1	1	1	0	4	1	3	1	3	0	1	4	3	0	3	2			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:120479922C>T	ENST00000256646.2	-	21	3724	c.3505G>A	c.(3505-3507)Ggt>Agt	p.G1169S		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1169	EGF-like 30; calcium-binding (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGTATCCACCAATGAAGTCA	0.527			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome				18	148					0	0	1	0	0	T	120479922	C	T	120479922	3	4	56	1	0	0	0	0	1	0	0	0	10595	594	21	2	3966	2	NOTCH2	1	120479922	Missense_Mutation	SNP	C	TCGA-EJ-5519-01A-01D-1576-08	8161213	120479922	128770699	5	2796											
PIAS3	10401	broad.mit.edu	37	chr1	145580242	145580242	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagaggcccagccgccccAtcaacatcacacccctggct	10	4	7	20	1	2	1	2	0	0	1	2	1	2	1	7	2	2	1	7	2	2	0			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:145580242A>G	ENST00000393045.2	+	6	814	c.724A>G	c.(724-726)Atc>Gtc	p.I242V	PIAS3_ENST00000369299.3_Missense_Mutation_p.I233V|PIAS3_ENST00000369298.1_Missense_Mutation_p.I207V	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	242	PINIT.				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding	p.I242V(2)|p.I233V(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CAGCCGCCCCATCAACATCAC	0.587													14	205					0	0	1	0	0	G	145580242	A	G	145580242	3	3	56	1	0	0	0	0	1	0	0	0	11925	217	8	3	746	3	PIAS3	1	145580242	Missense_Mutation	SNP	A	TCGA-EJ-5519-01A-01D-1576-08	25100320	145580242	103670379	6	2797											
FLG	2312	broad.mit.edu	37	chr1	152275293	152275293	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgcataataccttggatgAtctttaccaaacgcacttgc	11	13	7	10	1	1	1	0	1	1	0	1	2	1	2	2	1	5	3	2	1	4	7			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:152275293A>G	ENST00000368799.1	-	3	12104	c.12069T>C	c.(12067-12069)gaT>gaC	p.D4023D	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	4023					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.D4023D(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCTTGGATGATCTTTACCAA	0.383									Ichthyosis				68	192					0	0	1	0	0	G	152275293	A	G	152275293	2	3	56	1	0	0	0	0	0	0	0	1	5955	330	12	3		3	FLG	1	152275293	Silent	SNP	A	TCGA-EJ-5519-01A-01D-1576-08	6695051	152275293	96975328	7	2798											
KIRREL	55243	broad.mit.edu	37	chr1	158057827	158057827	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggtttcttgattgaagacGcccacgagagtcgctatgag	9	10	14	8	3	1	5	0	3	1	2	2	6	1	5	1	2	0	2	1	2	2	4			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:158057827G>A	ENST00000368172.1	+	3	205	c.193G>A	c.(193-195)Gcc>Acc	p.A65T	KIRREL_ENST00000359209.6_Missense_Mutation_p.A267T|KIRREL_ENST00000392272.2_Missense_Mutation_p.A164T|KIRREL_ENST00000416935.2_Missense_Mutation_p.A167T|KIRREL_ENST00000360089.4_Missense_Mutation_p.A103T|KIRREL_ENST00000368173.3_Missense_Mutation_p.A267T			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	267	Ig-like C2-type 1.					integral to membrane		p.A103T(1)|p.A267T(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					GATTGAAGACGCCCACGAGAG	0.522											OREG0013906	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	276					0	0	1	0	0	A	158057827	G	A	158057827	3	1	56	1	0	0	0	0	1	0	0	0	8367	1087	38	1	825	1	KIRREL	1	158057827	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	5782534	158057827	91192794	8	2799											
IFI16	3428	broad.mit.edu	37	chr1	159021757	159021757	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcctttcacacttgtggctGatgtgaatgctgaccgaaac	10	12	9	10	1	1	3	1	3	0	0	2	4	2	3	2	1	2	2	2	1	2	2			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:159021757G>A	ENST00000295809.7	+	10	2209	c.1954G>A	c.(1954-1956)Gat>Aat	p.D652N	IFI16_ENST00000359709.3_Missense_Mutation_p.D596N|IFI16_ENST00000340979.6_Missense_Mutation_p.D540N|IFI16_ENST00000368131.4_Missense_Mutation_p.D596N|IFI16_ENST00000368132.3_Missense_Mutation_p.D596N|IFI16_ENST00000448393.2_Missense_Mutation_p.D540N|IFI16_ENST00000430894.2_Missense_Mutation_p.D600N			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	652	HIN-200 2.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding	p.D596N(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					ACTTGTGGCTGATGTGAATGC	0.428													7	180					0	0	1	0	0	A	159021757	G	A	159021757	3	1	56	1	0	0	0	0	1	0	0	0	7555	1290	45	2	1816	2	IFI16	1	159021757	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	963930	159021757	90228864	9	2800											
LY9	4063	broad.mit.edu	37	chr1	160783454	160783454	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggagccccaagtcaccatGaagtctgtgaaggtgtctga	11	8	12	10	0	3	3	1	3	2	0	3	4	3	4	3	2	1	0	3	2	3	0			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:160783454G>C	ENST00000263285.5	+	3	513	c.483G>C	c.(481-483)atG>atC	p.M161I	LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368041.2_Missense_Mutation_p.M121I|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000341032.4_Missense_Mutation_p.M161I	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	161	Ig-like C2-type 1.				cell adhesion|immunoglobulin mediated immune response	integral to membrane		p.M161I(1)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			AAGTCACCATGAAGTCTGTGA	0.532													10	114					0	0	1	0	0	C	160783454	G	C	160783454	3	2	56	1	0	0	0	0	1	0	0	0	9147	1290	45	4	625	4	LY9	1	160783454	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	1761697	160783454	88467167	10	2801											
CEP350	9857	broad.mit.edu	37	chr1	179989287	179989287	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatggcttcaaggccattaaCttttacacctcaaccatatg	12	13	5	11	0	2	0	2	0	0	0	2	0	2	0	3	2	3	1	3	2	6	6			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:179989287C>G	ENST00000367607.3	+	12	2796	c.2378C>G	c.(2377-2379)aCt>aGt	p.T793S		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	793						centrosome|nucleus|spindle		p.T793S(2)		central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AGGCCATTAACTTTTACACCT	0.378													63	131					0	0	1	0	0	G	179989287	C	G	179989287	3	3	56	1	0	0	0	0	1	0	0	0	3276	565	20	4	2420	4	CEP350	1	179989287	Missense_Mutation	SNP	C	TCGA-EJ-5519-01A-01D-1576-08	19205833	179989287	69261334	11	2802											
HMCN1	83872	broad.mit.edu	37	chr1	186055463	186055463	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgacctgtgaggtctctggTtttccacctcctgacctcag	5	14	9	13	0	2	3	1	3	1	0	5	3	4	3	5	2	0	1	5	2	0	3			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:186055463T>G	ENST00000271588.4	+	58	9199	c.8970T>G	c.(8968-8970)ggT>ggG	p.G2990G	HMCN1_ENST00000367492.2_Silent_p.G2990G	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2990	Ig-like C2-type 28.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.G2990G(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGGTCTCTGGTTTTCCACCTC	0.408													27	114					0	0	1	0	0	G	186055463	T	G	186055463	2	3	56	1	0	0	0	0	0	0	0	1	7261	1712	60	5		5	HMCN1	1	186055463	Silent	SNP	T	TCGA-EJ-5519-01A-01D-1576-08	6066176	186055463	63195158	12	2803											
CR1L	1379	broad.mit.edu	37	chr1	207818635	207818635	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcccggcgctttcctgggttGcttctggcggccctggtgtt	0	14	14	13	3	1	0	0	0	1	0	3	0	3	0	3	5	1	4	3	5	0	4			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr1:207818635G>C	ENST00000508064.2	+	1	117	c.57G>C	c.(55-57)ttG>ttC	p.L19F		NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	19						cytoplasm|extracellular region|membrane		p.L19F(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TTCCTGGGTTGCTTCTGGCGG	0.667													3	80					0	0	1	0	0	C	207818635	G	C	207818635	3	2	56	1	0	0	0	0	1	0	0	0	3864	1310	46	4	59	4	CR1L	1	207818635	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	21763172	207818635	41431986	13	2804											
RASGRP3	25780	broad.mit.edu	37	chr2	33745725	33745725	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caactaggatatgaaaaacaCgtcagcctcatcgacatatc	16	8	6	11	2	2	1	2	1	0	0	4	3	2	2	1	1	3	0	1	1	6	3			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr2:33745725C>T	ENST00000403687.3	+	6	1082	c.342C>T	c.(340-342)caC>caT	p.H114H	RASGRP3_ENST00000402538.3_Silent_p.H114H|RASGRP3_ENST00000407811.1_Silent_p.H114H	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	114	N-terminal Ras-GEF.				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity	p.H114H(1)		large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					ATGAAAAACACGTCAGCCTCA	0.448													92	159					0	0	1	0	0	T	33745725	C	T	33745725	2	4	56	1	0	0	0	0	0	0	0	1	13128	535	19	1		1	RASGRP3	2	33745725	Silent	SNP	C	TCGA-EJ-5519-01A-01D-1576-08		33745725	209453648	14	2805											
ATL2	64225	broad.mit.edu	37	chr2	38525644	38525644	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaacgaaattgttttatcGccacttccttgagatccaag	11	13	7	10	2	0	2	0	2	0	1	3	4	2	2	3	0	1	1	3	0	4	5			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr2:38525644G>A	ENST00000378954.4	-	12	1275	c.1274C>T	c.(1273-1275)gCg>gTg	p.A425V	ATL2_ENST00000546051.1_Missense_Mutation_p.A254V|ATL2_ENST00000406122.1_Missense_Mutation_p.A254V|ATL2_ENST00000402054.1_Missense_Mutation_p.A254V|ATL2_ENST00000419554.2_Missense_Mutation_p.A425V|ATL2_ENST00000332337.4_Missense_Mutation_p.A407V|ATL2_ENST00000452935.2_Missense_Mutation_p.A407V|ATL2_ENST00000539122.1_Missense_Mutation_p.A254V	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2	425					endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding	p.A425V(2)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						TTGTTTTATCGCCACTTCCTT	0.428													5	270					0	0	1	0	0	A	38525644	G	A	38525644	3	1	56	1	0	0	0	0	1	0	0	0	1106	1087	38	1	597	1	ATL2	2	38525644	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	4779919	38525644	204673729	15	2806											
ABCG5	64240	broad.mit.edu	37	chr2	44040309	44040309	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaactattcctaggatgacAagagctggaataaatgaata	18	9	8	6	0	0	3	0	2	0	1	1	5	1	5	1	2	2	1	1	2	9	5			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr2:44040309A>T	ENST00000543989.1	-	9	2422	c.717T>A	c.(715-717)ctT>ctA	p.L239L	ABCG5_ENST00000405322.1_Silent_p.L463L|ABCG5_ENST00000260645.1_Silent_p.L634L			Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	634	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	p.L634L(1)		breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CTAGGATGACAAGAGCTGGAA	0.403													26	60					0	0	1	0	0	T	44040309	A	T	44040309	2	4	56	1	0	0	0	0	0	0	0	1	71	117	5	5		5	ABCG5	2	44040309	Silent	SNP	A	TCGA-EJ-5519-01A-01D-1576-08	5514665	44040309	199159064	16	2807											
GPR75	10936	broad.mit.edu	37	chr2	54081085	54081085	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattctggttcctatacagaGccggcatggcacactggatg	10	10	11	10	1	1	1	0	0	1	1	2	2	2	2	2	4	2	3	2	4	3	4			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr2:54081085G>A	ENST00000394705.2	-	2	1079	c.809C>T	c.(808-810)gCt>gTt	p.A270V	GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	270						integral to plasma membrane	G-protein coupled receptor activity	p.A270V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CCTATACAGAGCCGGCATGGC	0.557													3	80					0	0	1	0	0	A	54081085	G	A	54081085	3	1	56	1	0	0	0	0	1	0	0	0	6748	971	34	2	817	2	GPR75	2	54081085	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	10040776	54081085	189118288	17	2808											
RETSAT	54884	broad.mit.edu	37	chr2	85571797	85571797	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccttggtgcctcgcaggcaGatgaaaacagaggtcatgcc	10	8	12	11	1	1	3	1	1	0	2	3	3	2	3	3	3	3	2	3	3	2	1			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr2:85571797G>C	ENST00000295802.4	-	7	1288	c.1176C>G	c.(1174-1176)atC>atG	p.I392M	RETSAT_ENST00000475624.2_5'UTR|RETSAT_ENST00000457495.2_Missense_Mutation_p.I331M|RETSAT_ENST00000263854.6_Missense_Mutation_p.I392M	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	392					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity	p.I392M(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	CTCGCAGGCAGATGAAAACAG	0.592													3	77					0	0	1	0	0	C	85571797	G	C	85571797	3	2	56	1	0	0	0	0	1	0	0	0	13290	932	33	4	676	4	RETSAT	2	85571797	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	31490712	85571797	157627576	18	2809											
SEPT10	151011	broad.mit.edu	37	chr2	110301775	110301775	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcagtaactgtggctgttcaCcaaatatagaagtgataaaa	16	11	8	6	0	2	2	2	1	0	1	2	2	2	2	1	1	1	3	1	1	7	5			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr2:110301775C>A	ENST00000356688.4	-	12	1874	c.1559G>T	c.(1558-1560)gGt>gTt	p.G520V	SEPT10_ENST00000334001.6_3'UTR|SEPT10_ENST00000397712.2_3'UTR|SEPT10_ENST00000397714.2_3'UTR			Q9P0V9	SEP10_HUMAN	septin 10	0					cell cycle|cell division	septin complex	GTP binding			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						TGGCTGTTCACCAAATATAGA	0.333													19	22					0.00074312	0.000779969	1	1	0	A	110301775	C	A	110301775	3	1	56	1	0	0	0	0	1	0	0	0	14114	522	18	4		4	SEPT10	2	110301775	Missense_Mutation	SNP	C	TCGA-EJ-5519-01A-01D-1576-08	24729978	110301775	132897598	19	2810											
TTC30B	150737	broad.mit.edu	37	chr2	178416809	178416809	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caatgccctcagtggtcatgCccacacctagctcagggtgc	8	8	10	15	0	3	0	3	0	0	0	3	0	3	0	3	2	4	1	3	2	2	1			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr2:178416809C>T	ENST00000408939.2	-	1	933	c.683G>A	c.(682-684)gGc>gAc	p.G228D		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	228					cell projection organization	cilium	binding	p.G228D(2)		cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			AGTGGTCATGCCCACACCTAG	0.522													4	118					0	0	1	0	0	T	178416809	C	T	178416809	3	4	56	1	0	0	0	0	1	0	0	0	16761	739	26	2	1318	2	TTC30B	2	178416809	Missense_Mutation	SNP	C	TCGA-EJ-5519-01A-01D-1576-08	68115034	178416809	64782564	20	2811											
VWC2L	402117	broad.mit.edu	37	chr2	215278952	215278952	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgaagcttgcatacttcTgttggtcatccctggattgg	7	15	10	9	0	3	1	2	1	1	0	4	2	4	2	1	3	3	3	1	3	2	5			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr2:215278952T>G	ENST00000312504.5	+	2	837	c.35T>G	c.(34-36)cTg>cGg	p.L12R	VWC2L_ENST00000427124.1_Missense_Mutation_p.L12R|AC107218.3_ENST00000412896.1_RNA|AC107218.3_ENST00000437883.1_RNA	NM_001080500.2	NP_001073969.1	B2RUY7	VWC2L_HUMAN	von Willebrand factor C domain containing protein 2-like	12						extracellular region		p.L12R(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						TGCATACTTCTGTTGGTCATC	0.433													9	107					0	0	1	0	0	G	215278952	T	G	215278952	3	3	56	1	0	0	0	0	1	0	0	0	17304	1580	55	5	37	5	VWC2L	2	215278952	Missense_Mutation	SNP	T	TCGA-EJ-5519-01A-01D-1576-08	36862143	215278952	27920421	21	2812											
BARD1	580	broad.mit.edu	37	chr2	215645851	215645851	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccatttatctgaggactggaGataacagatggttggctaca	12	11	11	7	0	1	3	0	1	1	2	1	5	1	4	1	4	2	2	1	4	3	5			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr2:215645851G>A	ENST00000260947.4	-	4	881	c.747C>T	c.(745-747)atC>atT	p.I249I	BARD1_ENST00000449967.2_Silent_p.I105I|BARD1_ENST00000471787.1_5'UTR	NM_000465.2	NP_000456.2	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	249					cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	p.I249I(2)		NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GAGGACTGGAGATAACAGATG	0.383									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				54	115					0	0	1	0	0	A	215645851	G	A	215645851	2	1	56	1	0	0	0	0	0	0	0	1	1310	932	33	2		2	BARD1	2	215645851	Silent	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	366899	215645851	27553522	22	2813											
STK36	27148	broad.mit.edu	37	chr2	219538385	219538385	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catcccaaaattggggcgctCagagaaggagctgaggaatt	13	7	13	8	1	1	2	1	1	0	1	2	5	2	4	1	4	1	2	1	4	4	2			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr2:219538385C>T	ENST00000295709.3	+	3	401	c.122C>T	c.(121-123)tCa>tTa	p.S41L	STK36_ENST00000392105.3_Missense_Mutation_p.S41L|STK36_ENST00000440309.1_Missense_Mutation_p.S41L|STK36_ENST00000392106.2_Missense_Mutation_p.S41L	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	41	Protein kinase.				cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding	p.S41L(2)		biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		TTGGGGCGCTCAGAGAAGGAG	0.448													20	39					0	0	1	0	0	T	219538385	C	T	219538385	3	4	56	1	0	0	0	0	1	0	0	0	15358	838	29	2	128	2	STK36	2	219538385	Missense_Mutation	SNP	C	TCGA-EJ-5519-01A-01D-1576-08	3892534	219538385	23660988	23	2814											
DNAJB2	3300	broad.mit.edu	37	chr2	220145308	220145308	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactttctgcaggtatcggcGcaaggctctccagtggcacc	7	9	11	14	2	2	0	0	0	2	0	4	0	2	0	2	4	1	5	2	4	2	2			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr2:220145308G>A	ENST00000336576.5	+	3	362	c.74G>A	c.(73-75)cGc>cAc	p.R25H	DNAJB2_ENST00000463463.1_3'UTR|DNAJB2_ENST00000392086.4_Missense_Mutation_p.R25H	NM_006736.5	NP_006727.2	P25686	DNJB2_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 2	25	J.				ER-associated protein catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|negative regulation of protein deubiquitination|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding|response to unfolded protein	inclusion body	heat shock protein binding|Hsp70 protein binding|polyubiquitin binding|proteasome binding|protein binding|unfolded protein binding	p.R25H(1)		endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14		Renal(207;0.0474)		Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGTATCGGCGCAAGGCTCTC	0.517													3	57					0	0	1	0	0	A	220145308	G	A	220145308	3	1	56	1	0	0	0	0	1	0	0	0	4647	1087	38	1	80	1	DNAJB2	2	220145308	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	606923	220145308	23054065	24	2815											
LRRC3B	116135	broad.mit.edu	37	chr3	26751543	26751543	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccgacaatcggattcaaaGtgtgcacaaaaatgccttca	14	9	8	10	2	2	0	2	0	0	0	4	2	3	1	2	1	2	1	2	1	4	2			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr3:26751543G>C	ENST00000396641.2	+	2	972	c.380G>C	c.(379-381)aGt>aCt	p.S127T	LRRC3B_ENST00000456208.2_Missense_Mutation_p.S127T|LRRC3B_ENST00000417744.1_Missense_Mutation_p.S127T	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	127						integral to membrane		p.S127T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						CGGATTCAAAGTGTGCACAAA	0.478													25	43					0	0	1	0	0	C	26751543	G	C	26751543	3	2	56	1	0	0	0	0	1	0	0	0	9041	1029	36	4	382	4	LRRC3B	3	26751543	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08		26751543	171270887	25	2816											
XIRP1	165904	broad.mit.edu	37	chr3	39226607	39226607	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	catgggctgctctcctgaggGgccggggccccactgtggtg	3	8	17	13	1	1	1	0	1	1	0	2	1	1	1	4	6	1	2	4	6	0	0			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr3:39226607G>T	ENST00000340369.3	-	2	4558	c.4330C>A	c.(4330-4332)Ccc>Acc	p.P1444T	XIRP1_ENST00000396251.1_3'UTR|XIRP1_ENST00000421646.1_Missense_Mutation_p.P127T	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1444							actin binding	p.P1444T(1)		breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TCTCCTGAGGGGCCGGGGCCC	0.612													34	112					2.47316e-13	2.70768e-13	1	1	0	T	39226607	G	T	39226607	3	4	56	1	0	0	0	0	1	0	0	0	17489	1232	43	4	1205	4	XIRP1	3	39226607	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	12475064	39226607	158795823	26	2817											
CCR9	10803	broad.mit.edu	37	chr3	45942586	45942586	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctttcttgtcactcttccCttctgggccattgctgctgc	2	17	7	15	0	5	0	1	0	4	0	6	0	6	0	2	1	3	2	2	1	0	5			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr3:45942586C>T	ENST00000357632.2	+	3	486	c.306C>T	c.(304-306)ccC>ccT	p.P102P	LZTFL1_ENST00000539217.1_Intron|LZTFL1_ENST00000536047.1_Intron|CCR9_ENST00000355983.2_Silent_p.P90P|CCR9_ENST00000395963.2_Silent_p.P90P|CCR9_ENST00000422395.1_3'UTR	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	102					cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane		p.P102P(1)		breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		TCACTCTTCCCTTCTGGGCCA	0.473													8	396					0	0	1	0	0	T	45942586	C	T	45942586	2	4	56	1	0	0	0	0	0	0	0	1	2970	668	24	2		2	CCR9	3	45942586	Silent	SNP	C	TCGA-EJ-5519-01A-01D-1576-08	6715979	45942586	152079844	27	2818											
FXR1	0	broad.mit.edu	37	chr3	180675619	180675620	+	Frame_Shift_Ins	INS	-	-	A																															actaaaggaaaagtaattggINSaaaaaatggcaaagttattc																										TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr3:180675619_180675620insA	ENST00000357559.4	+	10	1277_1278	c.893_894insA	c.(892-894)gaafs	p.E298fs	FXR1_ENST00000445140.2_Frame_Shift_Ins_p.E298fs|FXR1_ENST00000305586.7_Frame_Shift_Ins_p.E213fs|FXR1_ENST00000468861.1_Frame_Shift_Ins_p.E213fs|FXR1_ENST00000480918.1_Frame_Shift_Ins_p.E285fs|FXR1_ENST00000491062.1_Frame_Shift_Ins_p.E249fs	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	298	KH 2.				apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			AAAGTAATTGGAAAAAATGGCA	0.342													41	89	---	---	---	---						A	180675620	-	A	180675619	7	5	56	1	0	1	1	0	0	0	0	0	6150	1174	41	0	931	0	FXR1	3	180675619	Frame_Shift_Ins	INS	-	TCGA-EJ-5519-01A-01D-1576-08	134733033	180675619	17346811	28	2819											
EIF4G1	1981	broad.mit.edu	37	chr3	184040943	184040943	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	attgtggcccagacttcactCcatcctttgccaaccttggc	7	12	7	15	0	1	1	1	0	0	1	3	1	3	1	5	2	2	0	5	2	1	4			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr3:184040943C>G	ENST00000342981.4	+	13	2416	c.2002C>G	c.(2002-2004)Cca>Gca	p.P668A	EIF4G1_ENST00000435046.2_Missense_Mutation_p.P472A|EIF4G1_ENST00000350481.5_Missense_Mutation_p.P504A|EIF4G1_ENST00000346169.2_Missense_Mutation_p.P668A|EIF4G1_ENST00000411531.1_Missense_Mutation_p.P628A|EIF4G1_ENST00000352767.3_Missense_Mutation_p.P675A|EIF4G1_ENST00000434061.2_Missense_Mutation_p.P472A|EIF4G1_ENST00000427845.1_Missense_Mutation_p.P581A|EIF4G1_ENST00000382330.3_Missense_Mutation_p.P675A|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000441154.1_Missense_Mutation_p.P504A|EIF4G1_ENST00000424196.1_Missense_Mutation_p.P675A|EIF4G1_ENST00000414031.1_Missense_Mutation_p.P628A|EIF4G1_ENST00000392537.2_Missense_Mutation_p.P581A|EIF4G1_ENST00000319274.6_Missense_Mutation_p.P668A	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	668	MIF4G.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	p.P668A(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGACTTCACTCCATCCTTTGC	0.607													5	190					0	0	1	0	0	G	184040943	C	G	184040943	3	3	56	1	0	0	0	0	1	0	0	0	5064	855	30	4	2048	4	EIF4G1	3	184040943	Missense_Mutation	SNP	C	TCGA-EJ-5519-01A-01D-1576-08	3365324	184040943	13981487	29	2820											
DNAJB11	51726	broad.mit.edu	37	chr3	186302301	186302301	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctccccaactttgacaacaAcaatatcaagggctctttga	13	10	6	12	0	2	2	1	2	1	0	3	2	3	2	2	1	3	2	2	1	6	3			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr3:186302301A>G	ENST00000439351.1	+	10	1864	c.935A>G	c.(934-936)aAc>aGc	p.N312S	DNAJB11_ENST00000265028.3_Missense_Mutation_p.N312S			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	312					protein folding	endoplasmic reticulum lumen	heat shock protein binding	p.N312S(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		TTTGACAACAACAATATCAAG	0.433													25	39					0	0	1	0	0	G	186302301	A	G	186302301	3	3	56	1	0	0	0	0	1	0	0	0	4643	43	2	3	969	3	DNAJB11	3	186302301	Missense_Mutation	SNP	A	TCGA-EJ-5519-01A-01D-1576-08	2261358	186302301	11720129	30	2821											
PPEF2	5470	broad.mit.edu	37	chr4	76813115	76813115	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cggtaccatctctggatcagGgctgctgccttgaaggctat	7	11	12	11	1	2	1	1	1	1	0	3	2	2	2	2	4	3	4	2	4	3	3			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr4:76813115G>A	ENST00000286719.7	-	3	428	c.72C>T	c.(70-72)gcC>gcT	p.A24A	PPEF2_ENST00000510607.1_5'UTR	NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	24	IQ.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity	p.A24A(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TCTGGATCAGGGCTGCTGCCT	0.607													19	69					0	0	1	0	0	A	76813115	G	A	76813115	2	1	56	1	0	0	0	0	0	0	0	1	12353	1219	43	2		2	PPEF2	4	76813115	Silent	SNP	G	TCGA-EJ-5519-01A-01D-1576-08		76813115	114341161	31	2822											
GHR	2690	broad.mit.edu	37	chr5	42718930	42718930	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caccttatcatgatgcttgcCctgctactcagcagcccagt	8	11	7	15	0	2	1	2	1	0	0	2	1	2	1	3	0	6	3	3	0	2	3			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr5:42718930C>A	ENST00000230882.4	+	10	1511	c.1321C>A	c.(1321-1323)Cct>Act	p.P441T	GHR_ENST00000357703.3_Missense_Mutation_p.P419T|GHR_ENST00000537449.1_Missense_Mutation_p.P254T	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	441					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding	p.P441T(1)		NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TGATGCTTGCCCTGCTACTCA	0.463													4	83					0.00909568	0.00946845	1	1	0	A	42718930	C	A	42718930	3	1	56	1	0	0	0	0	1	0	0	0	6413	623	22	4	1355	4	GHR	5	42718930	Missense_Mutation	SNP	C	TCGA-EJ-5519-01A-01D-1576-08		42718930	138196330	32	2823											
CHSY3	337876	broad.mit.edu	37	chr5	129520761	129520761	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agattcatggagaactttgaAaacatgtgtcttatcccaaa	15	12	7	7	0	2	3	1	1	1	2	3	4	3	3	1	1	2	0	1	1	5	3			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr5:129520761A>G	ENST00000305031.4	+	3	2284	c.1926A>G	c.(1924-1926)gaA>gaG	p.E642E		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	642						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	p.E642E(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		AGAACTTTGAAAACATGTGTC	0.403													3	161					0	0	1	0	0	G	129520761	A	G	129520761	2	3	56	1	0	0	0	0	0	0	0	1	3435	11	1	3		3	CHSY3	5	129520761	Silent	SNP	A	TCGA-EJ-5519-01A-01D-1576-08	86801831	129520761	51394499	33	2824											
PCDHA12	0	broad.mit.edu	37	chr5	140255276	140255276	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgtccaaaagacacggggaCcttctggaggtaaatctgca	12	7	12	10	2	2	1	0	0	2	1	3	3	3	3	2	4	1	2	2	4	4	2			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr5:140255276C>A	ENST00000398631.2	+	1	219	c.219C>A	c.(217-219)gaC>gaA	p.D73E	PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1												p.D73E(1)		NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACACGGGGACCTTCTGGAGG	0.622													59	134					5.98616e-33	7.03928e-33	1	1	0	A	140255276	C	A	140255276	3	1	56	1	0	0	0	0	1	0	0	0	11569	506	18	4	221	4	PCDHA12	5	140255276	Missense_Mutation	SNP	C	TCGA-EJ-5519-01A-01D-1576-08	10734515	140255276	40659984	34	2825											
LARP1	23367	broad.mit.edu	37	chr5	154182914	154182914	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtttgacacactgacccCtgagccccctgtggatccca	8	8	9	16	0	0	3	0	3	0	0	1	4	1	4	5	1	1	2	5	1	0	1			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr5:154182914C>A	ENST00000336314.4	+	12	1967	c.1943C>A	c.(1942-1944)cCt>cAt	p.P648H		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	725							protein binding|RNA binding	p.P725H(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ACACTGACCCCTGAGCCCCCT	0.532													3	59					1	1	1	1	0	A	154182914	C	A	154182914	3	1	56	1	0	0	0	0	1	0	0	0	8667	681	24	4	1989	4	LARP1	5	154182914	Missense_Mutation	SNP	C	TCGA-EJ-5519-01A-01D-1576-08	13927638	154182914	26732346	35	2826											
GRM4	2914	broad.mit.edu	37	chr6	34100899	34100899	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgccatccttctcgatgagCgcctgcacaaaggtcagcga	9	8	11	13	3	2	1	1	1	1	0	4	3	3	1	3	1	4	1	3	1	1	1			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr6:34100899C>T	ENST00000374181.3	-	1	544	c.375G>A	c.(373-375)gcG>gcA	p.A125A	GRM4_ENST00000538487.1_Silent_p.A125A|GRM4_ENST00000374177.3_Intron	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	125					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.A125A(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	TCTCGATGAGCGCCTGCACAA	0.632													16	19					0	0	1	0	0	T	34100899	C	T	34100899	2	4	56	1	0	0	0	0	0	0	0	1	6840	755	27	1		1	GRM4	6	34100899	Silent	SNP	C	TCGA-EJ-5519-01A-01D-1576-08		34100899	137014168	36	2827											
CRISP2	7180	broad.mit.edu	37	chr6	49666128	49666128	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttggtcctacaccatagaCaaaatctaggatctcgtcat	12	12	6	11	1	3	1	1	0	2	1	5	2	4	2	2	2	1	0	2	2	5	4			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr6:49666128C>G	ENST00000339139.4	-	7	600	c.364G>C	c.(364-366)Gtc>Ctc	p.V122L		NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2	122						extracellular space		p.V122L(1)		kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			ACACCATAGACAAAATCTAGG	0.413													4	182					0	0	1	0	0	G	49666128	C	G	49666128	3	3	56	1	0	0	0	0	1	0	0	0	3903	478	17	4	383	4	CRISP2	6	49666128	Missense_Mutation	SNP	C	TCGA-EJ-5519-01A-01D-1576-08	15565229	49666128	121448939	37	2828											
MDN1	23195	broad.mit.edu	37	chr6	90411737	90411737	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catctacttttactgtgtcgGccacagtccagaaccggtcc	8	11	8	14	2	1	1	0	0	1	1	4	1	3	1	4	2	3	0	4	2	3	3			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr6:90411737G>A	ENST00000369393.3	-	54	8307	c.8192C>T	c.(8191-8193)gCc>gTc	p.A2731V	MDN1_ENST00000428876.1_Missense_Mutation_p.A2731V			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2731					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TACTGTGTCGGCCACAGTCCA	0.488													3	53					0	0	1	0	0	A	90411737	G	A	90411737	3	1	56	1	0	0	0	0	1	0	0	0	9465	1203	42	2	8794	2	MDN1	6	90411737	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	40745609	90411737	80703330	38	2829											
SLC22A16	85413	broad.mit.edu	37	chr6	110752470	110752470	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgccgcttcccacagccagCgatctggaaacagaggagag	11	5	12	13	2	1	2	0	0	1	2	2	5	2	3	3	2	4	1	3	2	1	1			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr6:110752470C>T	ENST00000368919.3	-	7	1491	c.1425G>A	c.(1423-1425)tcG>tcA	p.S475S	SLC22A16_ENST00000330550.4_Silent_p.S441S|SLC22A16_ENST00000439654.1_Silent_p.S475S	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	475					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity	p.S475S(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		CCACAGCCAGCGATCTGGAAA	0.587													16	23					0	0	1	0	0	T	110752470	C	T	110752470	2	4	56	1	0	0	0	0	0	0	0	1	14502	755	27	1		1	SLC22A16	6	110752470	Silent	SNP	C	TCGA-EJ-5519-01A-01D-1576-08	20340733	110752470	60362597	39	2830											
SERINC1	57515	broad.mit.edu	37	chr6	122768119	122768119	+	Frame_Shift_Del	DEL	A	A	-																															tcacttgttagagtcagtttAttaacctgactattgtttga																										TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr6:122768119delA	ENST00000368454.1	-	11	1355	c.1026delT	c.(1024-1026)aafs	p.N342fs	SERINC1_ENST00000339697.3_Frame_Shift_Del_p.N342fs			Q9NRX5	SERC1_HUMAN	serine incorporator 1	342					phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	L-serine transmembrane transporter activity|protein binding			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1)	13				GBM - Glioblastoma multiforme(226;0.126)		GAGTCAGTTTATTAACCTGAC	0.363													58	116	---	---	---	---						-	122768119	A	-	122768119	7	5	56	1	0	1	0	1	0	0	0	0	14133	446	16	0	343	0	SERINC1	6	122768119	Frame_Shift_Del	DEL	A	TCGA-EJ-5519-01A-01D-1576-08	12015649	122768119	48346948	40	2831											
MOXD1	26002	broad.mit.edu	37	chr6	132695782	132695782	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccttaccgttatactcttGtcatttatgtcacatgtatg	8	18	6	9	1	3	0	2	0	1	0	3	0	3	0	2	0	3	2	2	0	5	7			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr6:132695782G>T	ENST00000367963.3	-	2	517	c.399C>A	c.(397-399)gaC>gaA	p.D133E	MOXD1_ENST00000336749.3_Missense_Mutation_p.D65E	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	133	DOMON.				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity	p.D65E(1)|p.D133E(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		TTATACTCTTGTCATTTATGT	0.343													61	156					6.07242e-22	6.94773e-22	1	1	0	T	132695782	G	T	132695782	3	4	56	1	0	0	0	0	1	0	0	0	9769	1368	48	4	1486	4	MOXD1	6	132695782	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	9927663	132695782	38419285	41	2832											
NUP43	348995	broad.mit.edu	37	chr6	150048281	150048281	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggagctaatgacagactggtGaacattagcttggttactaa	13	11	11	6	0	0	3	0	2	0	1	0	4	0	4	0	3	4	3	0	3	5	5			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr6:150048281G>A	ENST00000340413.2	-	8	1043	c.967C>T	c.(967-969)Cac>Tac	p.H323Y	NUP43_ENST00000367403.3_3'UTR|NUP43_ENST00000367404.4_Missense_Mutation_p.H227Y|NUP43_ENST00000460354.2_Missense_Mutation_p.H323Y	NM_198887.1	NP_942590.1	Q8NFH3	NUP43_HUMAN	nucleoporin 43kDa	323					carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding	p.H323Y(1)		breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)		ACAGACTGGTGAACATTAGCT	0.393													8	70					0	0	1	0	0	A	150048281	G	A	150048281	3	1	56	1	0	0	0	0	1	0	0	0	10813	1290	45	2	179	2	NUP43	6	150048281	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	17352499	150048281	21066786	42	2833											
SYNE1	23345	broad.mit.edu	37	chr6	152647137	152647137	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcttcatgactagacgaagTcttcaacaaagaaaactcag	16	8	7	10	2	4	3	3	1	1	2	4	4	4	3	0	0	2	1	0	0	6	3			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr6:152647137T>A	ENST00000367255.5	-	80	15995	c.15394A>T	c.(15394-15396)Act>Tct	p.T5132S	SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000423061.1_Missense_Mutation_p.T5061S|SYNE1_ENST00000448038.1_Missense_Mutation_p.T5061S|SYNE1_ENST00000265368.4_Missense_Mutation_p.T5132S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5132					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	p.T5132S(3)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTAGACGAAGTCTTCAACAAA	0.348										HNSCC(10;0.0054)			46	79					0	0	1	0	0	A	152647137	T	A	152647137	3	1	56	1	0	0	0	0	1	0	0	0	15502	1667	58	5	11340	5	SYNE1	6	152647137	Missense_Mutation	SNP	T	TCGA-EJ-5519-01A-01D-1576-08	2598856	152647137	18467930	43	2834											
ABCA13	154664	broad.mit.edu	37	chr7	48318294	48318294	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttagaaatgtctgggacTctggtcatgctgttgaatga	9	14	11	7	0	4	3	1	2	3	1	4	4	4	4	0	2	1	2	0	2	3	2			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr7:48318294T>C	ENST00000435803.1	+	18	7527	c.7503T>C	c.(7501-7503)acT>acC	p.T2501T		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2501					transport	integral to membrane	ATP binding|ATPase activity	p.T2501T(2)|p.T2446T(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGTCTGGGACTCTGGTCATGC	0.428													29	378					0	0	1	0	0	C	48318294	T	C	48318294	2	2	56	1	0	0	0	0	0	0	0	1	31	1538	54	3		3	ABCA13	7	48318294	Silent	SNP	T	TCGA-EJ-5519-01A-01D-1576-08		48318294	110820369	44	2835											
TRIM74	378108	broad.mit.edu	37	chr7	72430608	72430608	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttccagcacacactcggcttGggccagccgctcccgggttc	5	8	11	17	3	0	0	0	0	0	0	4	0	2	0	4	3	2	4	4	3	0	3			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr7:72430608G>T	ENST00000285805.3	-	4	869	c.670C>A	c.(670-672)Caa>Aaa	p.Q224K	TRIM74_ENST00000395244.1_Missense_Mutation_p.Q224K	NM_198853.1	NP_942150.1	Q86UV6	TRI74_HUMAN	tripartite motif containing 74	224						intracellular	zinc ion binding	p.Q224K(1)		prostate(1)	1						CACTCGGCTTGGGCCAGCCGC	0.672													5	80					0.0293803	0.0298504	1	1	0	T	72430608	G	T	72430608	3	4	56	1	0	0	0	0	1	0	0	0	16608	1363	47	4		4	TRIM74	7	72430608	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	24112314	72430608	86708055	45	2836											
BET1	10282	broad.mit.edu	37	chr7	93633528	93633528	+	Translation_Start_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccaggcctgcacgcctcaTcctgccagaggagagagaga	11	4	12	14	1	1	3	1	0	0	3	2	6	2	4	5	2	2	1	5	2	0	0			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr7:93633528T>A	ENST00000222547.3	-	1	159	c.1A>T	c.(1-3)Atg>Ttg	p.M1L	AC006378.2_ENST00000426634.1_RNA|BET1_ENST00000425626.1_Start_Codon_SNP_p.M1L|BET1_ENST00000433727.1_Start_Codon_SNP_p.M1L	NM_005868.4	NP_005859.1	O15155	BET1_HUMAN	Bet1 golgi vesicular membrane trafficking protein	1					ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein binding	p.M1L(1)		large_intestine(2)|lung(1)|prostate(1)|skin(1)	5	all_cancers(62;2.22e-10)|all_epithelial(64;1.38e-09)|Lung NSC(181;0.218)	Breast(660;0.000162)|Ovarian(593;0.000626)	STAD - Stomach adenocarcinoma(171;0.000967)			GCACGCCTCATCCTGCCAGAG	0.632													37	76					0	0	1	0	0	A	93633528	T	A	93633528	1	1	56	1	0	0	0	0	0	0	0	0	1406	1435	50	5		5	BET1	7	93633528	Translation_Start_Site	SNP	T	TCGA-EJ-5519-01A-01D-1576-08	21202920	93633528	65505135	46	2837											
PEG10	23089	broad.mit.edu	37	chr7	94293408	94293408	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgccaaggcatggggtcTgtcatcgactactccaatgc	8	9	11	13	2	2	0	1	0	1	0	4	1	3	0	2	3	3	1	2	3	3	1			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr7:94293408T>C	ENST00000482108.1	+	2	1019	c.540T>C	c.(538-540)tcT>tcC	p.S180S	PEG10_ENST00000488574.1_Silent_p.S180S	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10	180	Necessary for interaction with ALK1.				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	p.S180S(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			GCATGGGGTCTGTCATCGACT	0.547													25	271					0	0	1	0	0	C	94293408	T	C	94293408	2	2	56	1	0	0	0	0	0	0	0	1	11766	1580	55	3		3	PEG10	7	94293408	Silent	SNP	T	TCGA-EJ-5519-01A-01D-1576-08	659880	94293408	64845255	47	2838											
RINT1	60561	broad.mit.edu	37	chr7	105190573	105190573	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctggatgagaagattcaGccaatattagacaaagtagg	15	11	10	5	0	2	3	1	1	1	3	2	5	2	4	1	2	1	1	1	2	6	5			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr7:105190573G>C	ENST00000257700.2	+	8	1299	c.1068G>C	c.(1066-1068)caG>caC	p.Q356H		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	356	RINT1/TIP20.				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding	p.Q356H(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						AGAAGATTCAGCCAATATTAG	0.378													8	117					0	0	1	0	0	C	105190573	G	C	105190573	3	2	56	1	0	0	0	0	1	0	0	0	13428	962	34	4	1098	4	RINT1	7	105190573	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	10897165	105190573	53948090	48	2839											
DPP6	1804	broad.mit.edu	37	chr7	154667617	154667617	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cccgggattctctttccaggGatggcaccccaggcagccag	7	7	12	15	1	1	0	0	0	1	0	3	2	2	2	5	4	1	2	5	4	0	2			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr7:154667617G>A	ENST00000404039.1	+	20	2280	c.1691_splice	c.e20-1	p.D565_splice	DPP6_ENST00000377770.3_Splice_Site_p.D629_splice|DPP6_ENST00000332007.3_Splice_Site_p.D567_splice|DPP6_ENST00000427557.1_Splice_Site_p.D522_splice	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	629					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	p.D629N(1)|p.D565N(1)		NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TCTTTCCAGGGATGGCACCCC	0.632													5	13					0	0	1	0	0	A	154667617	G	A	154667617	5	1	56	1	0	0	0	0	0	0	1	0	4756	1188	41	2	2079	2	DPP6	7	154667617	Splice_Site	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	49477044	154667617	4471046	49	2840											
MTMR7	9108	broad.mit.edu	37	chr8	17169089	17169089	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	accgagcacacctgagcggtCctgtcccagccatcagaaca	11	5	9	16	2	1	2	1	1	0	1	3	3	3	2	5	1	4	1	5	1	1	0			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr8:17169089C>T	ENST00000180173.5	-	9	1066	c.1032G>A	c.(1030-1032)agG>agA	p.R344R	MTMR7_ENST00000521857.1_Silent_p.R344R|MTMR7_ENST00000398099.3_5'UTR	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	344	Myotubularin phosphatase.|Substrate binding (By similarity).						protein tyrosine phosphatase activity	p.R344R(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		CCTGAGCGGTCCTGTCCCAGC	0.567													37	203					0	0	1	0	0	T	17169089	C	T	17169089	2	4	56	1	0	0	0	0	0	0	0	1	9996	854	30	2		2	MTMR7	8	17169089	Silent	SNP	C	TCGA-EJ-5519-01A-01D-1576-08		17169089	129194933	50	2841											
EBF2	64641	broad.mit.edu	37	chr8	25745379	25745379	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcgctccatacaagcatagtCccaaacaccacttggagacc	13	7	6	15	1	0	1	0	0	0	1	3	2	2	1	4	1	3	2	4	1	4	3			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr8:25745379C>A	ENST00000520164.1	-	9	1398	c.861G>T	c.(859-861)ggG>ggT	p.G287G	EBF2_ENST00000535548.1_Silent_p.G18G|EBF2_ENST00000408929.3_Silent_p.G139G	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	287	IPT/TIG.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	p.G287G(2)		endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		CAAGCATAGTCCCAAACACCA	0.488													35	67					2.20474e-14	2.45615e-14	1	1	0	A	25745379	C	A	25745379	2	1	56	1	0	0	0	0	0	0	0	1	4907	842	30	4		4	EBF2	8	25745379	Silent	SNP	C	TCGA-EJ-5519-01A-01D-1576-08	8576290	25745379	120618643	51	2842											
PRKDC	5591	broad.mit.edu	37	chr8	48769758	48769758	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgaaagaatagtggccaCtatctcaaccaccatgtagt	14	9	7	11	0	1	2	1	1	1	1	2	2	1	2	4	1	1	1	4	1	6	3			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr8:48769758C>A	ENST00000314191.2	-	50	6621	c.6565G>T	c.(6565-6567)Gtg>Ttg	p.V2189L	PRKDC_ENST00000338368.3_Missense_Mutation_p.V2189L|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2190					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	p.V2189L(1)|p.V2190L(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				ATAGTGGCCACTATCTCAACC	0.458								Non-homologous end-joining					5	24					0.0215528	0.0220742	1	1	0	A	48769758	C	A	48769758	3	1	56	1	0	0	0	0	1	0	0	0	12573	565	20	4	5970	4	PRKDC	8	48769758	Missense_Mutation	SNP	C	TCGA-EJ-5519-01A-01D-1576-08	23024379	48769758	97594264	52	2843											
CDH17	1015	broad.mit.edu	37	chr8	95158181	95158181	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attttggaaacttcccagtcGttttgtaagcttccactgcc	8	15	7	11	1	0	0	0	0	0	0	3	1	2	1	3	1	3	3	3	1	2	7	rs147500239	byFrequency	TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr8:95158181G>A	ENST00000027335.3	-	15	2266	c.2142C>T	c.(2140-2142)aaC>aaT	p.N714N	CDH17_ENST00000441892.2_Silent_p.N500N|CDH17_ENST00000450165.2_Silent_p.N714N	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	714	Cadherin 7.					integral to membrane	calcium ion binding	p.N714N(1)		NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CTTCCCAGTCGTTTTGTAAGC	0.408													37	108					0	0	1	0	0	A	95158181	G	A	95158181	2	1	56	1	0	0	0	0	0	0	0	1	3124	1136	40	1		1	CDH17	8	95158181	Silent	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	46388423	95158181	51205841	53	2844											
ESRP1	54845	broad.mit.edu	37	chr8	95676990	95676990	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggtttaccatggcagtcttCagatcaagatattgcaagat	13	12	9	7	0	3	3	2	0	1	3	3	3	3	3	1	2	2	3	1	2	4	5			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr8:95676990C>G	ENST00000433389.2	+	7	900	c.710C>G	c.(709-711)tCa>tGa	p.S237*	ESRP1_ENST00000358397.5_Nonsense_Mutation_p.S237*|ESRP1_ENST00000423620.2_Nonsense_Mutation_p.S237*|ESRP1_ENST00000454170.2_Nonsense_Mutation_p.S237*	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	237	RRM 1.				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding	p.S237*(2)	ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						TGGCAGTCTTCAGATCAAGAT	0.373													32	96					0	0	1	0	0	G	95676990	C	G	95676990	4	3	56	1	0	0	0	0	0	1	0	0	5286	838	29	4	736	4	ESRP1	8	95676990	Nonsense_Mutation	SNP	C	TCGA-EJ-5519-01A-01D-1576-08	518809	95676990	50687032	54	2845											
NUDCD1	84955	broad.mit.edu	37	chr8	110293385	110293385	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaatcatcttcagtctgttgCcagtaatacagaggttctat	12	14	7	8	0	5	1	2	0	3	1	5	1	5	1	1	1	2	3	1	1	4	6			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr8:110293385C>G	ENST00000239690.4	-	6	1214	c.840G>C	c.(838-840)tgG>tgC	p.W280C	NUDCD1_ENST00000427660.2_Missense_Mutation_p.W251C	NM_032869.3	NP_116258.2	Q96RS6	NUDC1_HUMAN	NudC domain containing 1	280	CS.							p.W280C(2)		breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			CAGTCTGTTGCCAGTAATACA	0.348													10	140					0	0	1	0	0	G	110293385	C	G	110293385	3	3	56	1	0	0	0	0	1	0	0	0	10770	740	26	4	931	4	NUDCD1	8	110293385	Missense_Mutation	SNP	C	TCGA-EJ-5519-01A-01D-1576-08	14616395	110293385	36070637	55	2846											
ASAP1	50807	broad.mit.edu	37	chr8	131249205	131249205	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attgcttttacagacttcttCactttctgaagggctgttct	7	18	7	9	0	4	2	1	1	3	1	4	2	4	2	0	1	2	3	0	1	2	7			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr8:131249205C>G	ENST00000357668.1	-	3	249	c.222G>C	c.(220-222)gtG>gtC	p.V74V	ASAP1_ENST00000518721.1_Silent_p.V74V			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	74					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	p.V74V(1)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						CAGACTTCTTCACTTTCTGAA	0.294													20	67					0	0	1	0	0	G	131249205	C	G	131249205	2	3	56	1	0	0	0	0	0	0	0	1	1009	813	29	4		4	ASAP1	8	131249205	Silent	SNP	C	TCGA-EJ-5519-01A-01D-1576-08	20955820	131249205	15114817	56	2847											
LRRC14	9684	broad.mit.edu	37	chr8	145746456	145746456	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggcacccttccagggtcTgttgcaggcatcagcagcca	7	8	12	14	0	2	0	1	0	1	0	3	0	3	0	3	3	3	6	3	3	0	2			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr8:145746456T>G	ENST00000292524.1	+	4	1222	c.1076T>G	c.(1075-1077)cTg>cGg	p.L359R	LRRC14_ENST00000529022.1_Missense_Mutation_p.L359R	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	359								p.L359R(1)		endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TTCCAGGGTCTGTTGCAGGCA	0.597													21	46					0	0	1	0	0	G	145746456	T	G	145746456	3	3	56	1	0	0	0	0	1	0	0	0	9013	1580	55	5	1086	5	LRRC14	8	145746456	Missense_Mutation	SNP	T	TCGA-EJ-5519-01A-01D-1576-08	14497251	145746456	617566	57	2848											
LINGO2	158038	broad.mit.edu	37	chr9	27949103	27949103	+	Frame_Shift_Del	DEL	C	C	-																															ggtgccattggaaatggtgtCattggagtcggtcatgtaca																										TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr9:27949103delC	ENST00000379992.2	-	6	2016	c.1567delG	c.(1567-1569)acfs	p.D523fs	LINGO2_ENST00000308675.3_Frame_Shift_Del_p.D523fs	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	523						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GAAATGGTGTCATTGGAGTCG	0.458													7	325	---	---	---	---						-	27949103	C	-	27949103	7	5	56	1	0	1	0	1	0	0	0	0	8856	826	29	0	257	0	LINGO2	9	27949103	Frame_Shift_Del	DEL	C	TCGA-EJ-5519-01A-01D-1576-08		27949103	113264328	58	2849											
TLN1	7094	broad.mit.edu	37	chr9	35711265	35711265	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tacttacctggcagctgcagCcagctgactcttgaggttag	8	11	11	11	0	1	2	0	2	1	0	1	2	1	2	2	2	6	5	2	2	3	4			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr9:35711265C>A	ENST00000314888.9	-	30	4359	c.4006G>T	c.(4006-4008)Gct>Tct	p.A1336S	TLN1_ENST00000540444.1_Missense_Mutation_p.A1336S	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1336	Interaction with SYNM.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	p.A1336S(2)		NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCAGCTGCAGCCAGCTGACTC	0.557													4	65					5.18039e-06	5.57551e-06	1	1	0	A	35711265	C	A	35711265	3	1	56	1	0	0	0	0	1	0	0	0	16007	739	26	4	3731	4	TLN1	9	35711265	Missense_Mutation	SNP	C	TCGA-EJ-5519-01A-01D-1576-08	7762162	35711265	105502166	59	2850											
ANKRD20A4	728747	broad.mit.edu	37	chr9	69423761	69423762	+	Frame_Shift_Ins	INS	-	-	A																															aagacaagagatagtctcagINSaaaaaagtcattggctttag																										TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr9:69423761_69423762insA	ENST00000357336.3	+	15	2338_2339	c.2057_2058insA	c.(2056-2058)aaafs	p.K686fs		NM_001098805.1	NP_001092275.1	Q4UJ75	A20A4_HUMAN	ankyrin repeat domain 20 family, member A4	686										breast(1)|large_intestine(1)|liver(1)|lung(9)|pancreas(2)|skin(2)	16						GATAGTCTCAGAAAAAAGTCAT	0.337													7	174	---	---	---	---						A	69423762	-	A	69423761	7	5	56	1	0	1	1	0	0	0	0	0	646	942	33	0	2115	0	ANKRD20A4	9	69423761	Frame_Shift_Ins	INS	-	TCGA-EJ-5519-01A-01D-1576-08	33712496	69423761	71789670	60	2851											
OR1J1	347168	broad.mit.edu	37	chr9	125239347	125239347	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctcagactgtaaatgaatgGgttcaacatgggagtgactg	12	11	12	6	0	2	3	2	2	1	1	3	4	2	4	0	2	1	2	0	2	4	2			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr9:125239347G>T	ENST00000259357.2	-	1	888	c.859C>A	c.(859-861)Cca>Aca	p.P287T		NM_001004451.1	NP_001004451.1	Q8NGS3	OR1J1_HUMAN	olfactory receptor, family 1, subfamily J, member 1	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P287T(1)		endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						TAAATGAATGGGTTCAACATG	0.418													63	151					7.59065e-32	8.84415e-32	1	1	0	T	125239347	G	T	125239347	3	4	56	1	0	0	0	0	1	0	0	0	11007	1232	43	4	112	4	OR1J1	9	125239347	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	55815586	125239347	15974084	61	2852											
PFKP	5214	broad.mit.edu	37	chr10	3176719	3176719	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaaactttggaaccaaaatCtctgccagagctatggagtg	14	9	10	8	0	1	2	0	0	1	2	2	4	1	4	2	2	4	1	2	2	5	2			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr10:3176719C>G	ENST00000381075.2	+	22	2267	c.2043C>G	c.(2041-2043)atC>atG	p.I681M	PFKP_ENST00000381072.1_Missense_Mutation_p.I107M|PFKP_ENST00000381125.4_Missense_Mutation_p.I689M	NM_001242339.1	NP_001229268.1	Q01813	K6PP_HUMAN	phosphofructokinase, platelet	689					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding	p.I689M(2)|p.I681M(1)		breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		GAACCAAAATCTCTGCCAGAG	0.512													82	212					0	0	1	0	0	G	3176719	C	G	3176719	3	3	56	1	0	0	0	0	1	0	0	0	11814	903	32	4	2145	4	PFKP	10	3176719	Missense_Mutation	SNP	C	TCGA-EJ-5519-01A-01D-1576-08		3176719	132358028	62	2853											
DCLRE1C	64421	broad.mit.edu	37	chr10	14951253	14951253	+	Frame_Shift_Del	DEL	A	A	-																															attgaaaatacctcagggtgAaaagtttccgggtatggaac																										TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr10:14951253delA	ENST00000453695.2	-	14	1317	c.873delT	c.(871-873)ttfs	p.F291fs	DCLRE1C_ENST00000378242.1_Frame_Shift_Del_p.F64fs|DCLRE1C_ENST00000396817.2_Frame_Shift_Del_p.F291fs|DCLRE1C_ENST00000378258.1_Frame_Shift_Del_p.F291fs|DCLRE1C_ENST00000357717.2_Frame_Shift_Del_p.F296fs|DCLRE1C_ENST00000378254.1_Frame_Shift_Del_p.F291fs|DCLRE1C_ENST00000492201.1_5'UTR|DCLRE1C_ENST00000378278.2_Frame_Shift_Del_p.F411fs|DCLRE1C_ENST00000378255.1_Frame_Shift_Del_p.F291fs|DCLRE1C_ENST00000378249.1_Frame_Shift_Del_p.F296fs|DCLRE1C_ENST00000378289.4_Intron|DCLRE1C_ENST00000378246.2_Frame_Shift_Del_p.F296fs	NM_001033855.1	NP_001029027.1	Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	411					DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						CCTCAGGGTGAAAAGTTTCCG	0.448								Non-homologous end-joining					17	112	---	---	---	---						-	14951253	A	-	14951253	7	5	56	1	0	1	0	1	0	0	0	0	4319	243	9	0	849	0	DCLRE1C	10	14951253	Frame_Shift_Del	DEL	A	TCGA-EJ-5519-01A-01D-1576-08	11774534	14951253	120583494	63	2854											
OR52D1	390066	broad.mit.edu	37	chr11	5510672	5510672	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctctgagtacctgtggcTcccacattggcatcatcctg	8	11	9	13	0	2	1	1	1	1	0	4	1	4	1	3	2	2	4	3	2	2	2			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr11:5510672T>G	ENST00000322641.5	+	1	758	c.736T>G	c.(736-738)Tcc>Gcc	p.S246A	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S246A(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TACCTGTGGCTCCCACATTGG	0.498													7	184					0	0	1	0	0	G	5510672	T	G	5510672	3	3	56	1	0	0	0	0	1	0	0	0	11162	1551	54	5	738	5	OR52D1	11	5510672	Missense_Mutation	SNP	T	TCGA-EJ-5519-01A-01D-1576-08		5510672	129495844	64	2855											
UBQLNL	143630	broad.mit.edu	37	chr11	5537038	5537038	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attatcaagaagaaggcgggAaacttctgggttctgctgca	12	10	12	7	1	3	2	1	0	2	2	3	3	3	3	0	3	3	3	0	3	5	3			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr11:5537038A>T	ENST00000380184.1	-	1	897	c.634T>A	c.(634-636)Tcc>Acc	p.S212T	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	212								p.S212T(1)		endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		AGAAGGCGGGAAACTTCTGGG	0.468													9	287					0	0	1	0	0	T	5537038	A	T	5537038	3	4	56	1	0	0	0	0	1	0	0	0	16961	246	9	5	797	5	UBQLNL	11	5537038	Missense_Mutation	SNP	A	TCGA-EJ-5519-01A-01D-1576-08	26366	5537038	129469478	65	2856											
MRGPRX1	259249	broad.mit.edu	37	chr11	18955603	18955603	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aataagacttccctgtccacGtggatccataaaaataggaa	16	9	7	9	1	0	1	0	0	0	1	3	3	3	3	3	2	0	0	3	2	7	4			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr11:18955603G>T	ENST00000302797.3	-	1	953	c.729C>A	c.(727-729)caC>caA	p.H243Q		NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	243					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.H243Q(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CCCTGTCCACGTGGATCCATA	0.478													12	126					2.80697e-09	3.04689e-09	1	1	0	T	18955603	G	T	18955603	3	4	56	1	0	0	0	0	1	0	0	0	9815	1136	40	4	243	4	MRGPRX1	11	18955603	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	13418565	18955603	116050913	66	2857											
FAM111A	63901	broad.mit.edu	37	chr11	58920573	58920574	+	Frame_Shift_Ins	INS	-	-	A																															tattggccatccatatggagINSaaaaaaagcagattgatgct																										TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr11:58920573_58920574insA	ENST00000528737.1	+	5	4250_4251	c.1432_1433insA	c.(1432-1434)aaafs	p.K478fs	FAM111A_ENST00000531147.1_Frame_Shift_Ins_p.K478fs|FAM111A_ENST00000533703.1_Frame_Shift_Ins_p.K478fs|FAM111A_ENST00000420244.1_Frame_Shift_Ins_p.K478fs|FAM111A_ENST00000361723.3_Frame_Shift_Ins_p.K478fs			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	478					proteolysis		serine-type endopeptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				TCCATATGGAGAAAAAAAGCAG	0.406													72	165	---	---	---	---						A	58920574	-	A	58920573	7	5	56	1	0	1	1	0	0	0	0	0	5430	943	33	0	1438	0	FAM111A	11	58920573	Frame_Shift_Ins	INS	-	TCGA-EJ-5519-01A-01D-1576-08	39964970	58920573	76085943	67	2858											
GANAB	23193	broad.mit.edu	37	chr11	62402415	62402416	+	Frame_Shift_Ins	INS	-	-	GGAC																															ctgtcaagatgatcttgtagINSggtccctcagccatggttaa																										TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr11:62402415_62402416insGGAC	ENST00000346178.4	-	5	452_453	c.437_438insGTCC	c.(436-438)ctafs	p.L146fs	GANAB_ENST00000356638.3_Frame_Shift_Ins_p.L146fs|GANAB_ENST00000534422.1_5'UTR|GANAB_ENST00000540933.1_Frame_Shift_Ins_p.L49fs|GANAB_ENST00000534779.1_Frame_Shift_Ins_p.L32fs	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	146					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						TGATCTTGTAGGGTCCCTCAGC	0.48													46	136	---	---	---	---						GGAC	62402416	-	GGAC	62402415	7	5	56	1	0	1	1	0	0	0	0	0	6273	987	35	0	2546	0	GANAB	11	62402415	Frame_Shift_Ins	INS	-	TCGA-EJ-5519-01A-01D-1576-08	3481842	62402415	72604101	68	2859											
PDE2A	5138	broad.mit.edu	37	chr11	72295684	72295684	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgcggtagaaaagcggatggGcatatgcgtcagggatgttc	10	8	16	7	4	1	1	1	0	0	1	2	3	1	3	0	4	2	3	0	4	4	3			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr11:72295684G>T	ENST00000334456.5	-	18	1693	c.1448C>A	c.(1447-1449)gCc>gAc	p.A483D	PDE2A_ENST00000418754.2_Missense_Mutation_p.A368D|PDE2A_ENST00000376450.3_Missense_Mutation_p.A227D|RP11-169D4.2_ENST00000545254.1_RNA|PDE2A_ENST00000444035.2_Missense_Mutation_p.A474D|PDE2A_ENST00000540345.1_Missense_Mutation_p.A474D|PDE2A_ENST00000544570.1_Missense_Mutation_p.A476D	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	483	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.A483D(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	AAGCGGATGGGCATATGCGTC	0.642													6	26					0.000673444	0.000712728	1	1	0	T	72295684	G	T	72295684	3	4	56	1	0	0	0	0	1	0	0	0	11683	1203	42	4	1433	4	PDE2A	11	72295684	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	9893269	72295684	62710832	69	2860											
USP2	9099	broad.mit.edu	37	chr11	119228895	119228895	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagaggtcccagaaggggtcGaagaccgtagaacagtaacc	14	4	14	9	2	0	4	0	0	0	4	2	6	1	4	3	3	2	2	3	3	5	2			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr11:119228895G>A	ENST00000260187.2	-	8	1599	c.1305C>T	c.(1303-1305)ttC>ttT	p.F435F	USP2_ENST00000525735.1_Silent_p.F226F|USP2_ENST00000455332.2_Silent_p.F192F	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	435	Necessary for interaction with MDM4.				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity	p.F435F(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		AGAAGGGGTCGAAGACCGTAG	0.517													33	70					0	0	1	0	0	A	119228895	G	A	119228895	2	1	56	1	0	0	0	0	0	0	0	1	17111	1049	37	1		1	USP2	11	119228895	Silent	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	46933211	119228895	15777621	70	2861											
SLC38A2	54407	broad.mit.edu	37	chr12	46757763	46757763	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgacagacaaatgaaaagatCagaattggcacagcatagac	19	6	9	7	0	1	6	1	2	0	4	1	6	1	6	0	1	1	2	0	1	5	2			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr12:46757763C>G	ENST00000256689.5	-	11	1341	c.897G>C	c.(895-897)ctG>ctC	p.L299L	SLC38A2_ENST00000551374.1_Silent_p.L137L	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	299					cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	p.L299L(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		ATGAAAAGATCAGAATTGGCA	0.328													14	30					0	0	1	0	0	G	46757763	C	G	46757763	2	3	56	1	0	0	0	0	0	0	0	1	14659	813	29	4		4	SLC38A2	12	46757763	Silent	SNP	C	TCGA-EJ-5519-01A-01D-1576-08		46757763	87094132	71	2862											
NUP107	57122	broad.mit.edu	37	chr12	69094533	69094533	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactgagtaaaatagtgagtCgagcaacacctggacttcaa	15	9	9	8	1	1	2	1	2	0	0	2	4	1	3	1	1	3	2	1	1	6	4			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr12:69094533C>A	ENST00000229179.4	+	7	912	c.580C>A	c.(580-582)Cga>Aga	p.R194R	NUP107_ENST00000378905.2_Silent_p.R43R|NUP107_ENST00000539906.1_Silent_p.R165R	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	194					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	p.R194R(1)	NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			AATAGTGAGTCGAGCAACACC	0.363													32	67					3.99451e-17	4.4894e-17	1	1	0	A	69094533	C	A	69094533	2	1	56	1	0	0	0	0	0	0	0	1	10801	876	31	4		4	NUP107	12	69094533	Silent	SNP	C	TCGA-EJ-5519-01A-01D-1576-08	22336770	69094533	64757362	72	2863											
C12orf63	0	broad.mit.edu	37	chr12	97098576	97098576	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagtaaagaaaatatacaggTaaggataataatattttata	21	12	6	2	0	0	1	0	0	0	1	0	2	0	2	0	2	1	2	0	2	12	10			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr12:97098576T>C	ENST00000524981.3	+	14	1881		c.e14+2					Q6ZTY8	CL063_HUMAN										p.?(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						AATATACAGGTAAGGATAATA	0.284													26	27					0	0	1	0	0	C	97098576	T	C	97098576	5	2	56	1	0	0	0	0	0	0	1	0	1712	1652	57	3	1855	3	C12orf63	12	97098576	Splice_Site	SNP	T	TCGA-EJ-5519-01A-01D-1576-08	28004043	97098576	36753319	73	2864											
KCTD10	83892	broad.mit.edu	37	chr12	109898479	109898479	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttccaccaggccttggaCtaggtagtacttggcttctg	6	13	10	12	0	2	0	0	0	2	0	3	1	3	1	3	4	1	3	3	4	3	7			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr12:109898479C>G	ENST00000228495.6	-	3	630	c.349G>C	c.(349-351)Gtc>Ctc	p.V117L	KCTD10_ENST00000540411.1_Missense_Mutation_p.V114L|KCTD10_ENST00000424763.2_Intron|KCTD10_ENST00000538161.1_5'UTR	NM_031954.3	NP_114160.1	Q9H3F6	BACD3_HUMAN	potassium channel tetramerization domain containing 10	117					proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.V117L(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	10						AGGCCTTGGACTAGGTAGTAC	0.577													28	140					0	0	1	0	0	G	109898479	C	G	109898479	3	3	56	1	0	0	0	0	1	0	0	0	8141	565	20	4	612	4	KCTD10	12	109898479	Missense_Mutation	SNP	C	TCGA-EJ-5519-01A-01D-1576-08	12799903	109898479	23953416	74	2865											
ACAD10	80724	broad.mit.edu	37	chr12	112153696	112153696	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acatcaggctggctaatcgtGatctagttctgaggaagaag	12	10	12	7	1	3	3	1	2	2	1	4	4	3	4	0	3	0	3	0	3	4	3			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr12:112153696G>A	ENST00000455480.2	+	8	1192	c.1015G>A	c.(1015-1017)Gat>Aat	p.D339N	ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000313698.4_Missense_Mutation_p.D308N|ACAD10_ENST00000549590.1_Missense_Mutation_p.D308N|ACAD10_ENST00000392636.2_5'UTR	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	308							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups	p.D308N(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						GGCTAATCGTGATCTAGTTCT	0.488													29	387					0	0	1	0	0	A	112153696	G	A	112153696	3	1	56	1	0	0	0	0	1	0	0	0	108	1290	45	2	1041	2	ACAD10	12	112153696	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	2255217	112153696	21698199	75	2866											
SACS	26278	broad.mit.edu	37	chr13	23909862	23909862	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctggaccattctgtctgatGctggaacagacgaaatttcc	10	12	9	10	1	3	2	0	1	3	1	4	5	4	4	2	2	2	1	2	2	2	2			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr13:23909862G>C	ENST00000382298.3	-	10	8741	c.8153C>G	c.(8152-8154)gCa>gGa	p.A2718G	SACS_ENST00000402364.1_Missense_Mutation_p.A1968G|SACS_ENST00000382292.3_Missense_Mutation_p.A2718G	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	2718					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	p.A2571G(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TCTGTCTGATGCTGGAACAGA	0.378													55	128					0	0	1	0	0	C	23909862	G	C	23909862	3	2	56	1	0	0	0	0	1	0	0	0	13856	1319	46	4	5590	4	SACS	13	23909862	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08		23909862	91260016	76	2867											
RCBTB1	55213	broad.mit.edu	37	chr13	50123715	50123715	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccggcactggccccacatGtacacgtgcccaccctgcgt	6	6	9	20	3	0	0	0	0	0	0	0	0	0	0	6	2	3	2	6	2	1	1			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr13:50123715G>A	ENST00000378302.2	-	9	1184	c.924C>T	c.(922-924)taC>taT	p.Y308Y	RCBTB1_ENST00000546015.1_Silent_p.Y308Y|RCBTB1_ENST00000258646.3_Silent_p.Y308Y	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1	308					cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		p.Y308Y(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		GGCCCCACATGTACACGTGCC	0.577													20	47					0	0	1	0	0	A	50123715	G	A	50123715	2	1	56	1	0	0	0	0	0	0	0	1	13223	1372	48	2		2	RCBTB1	13	50123715	Silent	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	26213853	50123715	65046163	77	2868											
MYCBP2	23077	broad.mit.edu	37	chr13	77664342	77664342	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcaacaactgagtatgatCtttggaagacagttctcttt	13	13	8	7	0	2	3	0	2	2	1	3	4	2	4	0	1	3	3	0	1	5	4			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr13:77664342C>A	ENST00000407578.2	-	60	10690	c.10424G>T	c.(10423-10425)aGa>aTa	p.R3475I	MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000357337.6_Missense_Mutation_p.R3437I|MYCBP2_ENST00000544440.2_Missense_Mutation_p.R3437I	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	3437					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	p.R3437I(1)|p.R3475I(1)		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)		TGAGTATGATCTTTGGAAGAC	0.388													63	118					2.01871e-26	2.33069e-26	1	1	0	A	77664342	C	A	77664342	3	1	56	1	0	0	0	0	1	0	0	0	10066	913	32	4	3708	4	MYCBP2	13	77664342	Missense_Mutation	SNP	C	TCGA-EJ-5519-01A-01D-1576-08	27540627	77664342	37505536	78	2869											
THTPA	0	broad.mit.edu	37	chr14	24027979	24027979	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggcctcaagactatcagcGcctgctagaagtgaacagct	11	7	10	13	2	2	3	2	1	0	2	2	3	2	3	3	1	4	2	3	1	5	2			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr14:24027979G>A	ENST00000288014.6	+	2	1359	c.623G>A	c.(622-624)cGc>cAc	p.R208H	RP11-66N24.4_ENST00000555446.1_RNA|THTPA_ENST00000556015.1_3'UTR|RP11-66N24.4_ENST00000556354.1_RNA|THTPA_ENST00000554789.1_3'UTR|THTPA_ENST00000404535.3_Missense_Mutation_p.R208H|THTPA_ENST00000554970.1_Missense_Mutation_p.R118H|RP11-66N24.4_ENST00000553985.1_RNA			Q9BU02	THTPA_HUMAN	thiamine triphosphatase	208					dephosphorylation|generation of precursor metabolites and energy|thiamine metabolic process	cytosol|nucleolus|soluble fraction	thiamin-triphosphatase activity	p.R208H(1)		large_intestine(1)|prostate(2)	3	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00643)	Thiamine(DB00152)	GACTATCAGCGCCTGCTAGAA	0.547											OREG0022604	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	80					0	0	1	0	0	A	24027979	G	A	24027979	3	1	56	1	0	0	0	0	1	0	0	0	15941	1087	38	1	629	1	THTPA	14	24027979	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08		24027979	83321561	79	2870											
ADAM20	8748	broad.mit.edu	37	chr14	70989752	70989752	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cactgtagaatgctctatcaGattgggaattactcccacat	12	12	7	10	0	2	2	1	0	1	2	3	3	3	3	1	1	2	2	1	1	5	4			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr14:70989752G>C	ENST00000256389.3	-	2	2117	c.1873C>G	c.(1873-1875)Ctg>Gtg	p.L625V	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	575	Cys-rich.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.L625V(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		TGCTCTATCAGATTGGGAATT	0.448													3	131					0	0	1	0	0	C	70989752	G	C	70989752	3	2	56	1	0	0	0	0	1	0	0	0	241	933	33	4	461	4	ADAM20	14	70989752	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	46961773	70989752	36359788	80	2871											
DUOX2	50506	broad.mit.edu	37	chr15	45404868	45404868	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcggctcctccagagcctgaTacacaccgtcggcgtaattg	8	8	11	14	4	0	2	0	1	0	1	3	2	2	2	4	2	2	2	4	2	2	3			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr15:45404868T>C	ENST00000389039.6	-	4	594	c.209A>G	c.(208-210)tAt>tGt	p.Y70C	DUOX2_ENST00000603300.1_Missense_Mutation_p.Y70C			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	70	Peroxidase-like; mediates peroxidase activity (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	p.Y70C(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CAGAGCCTGATACACACCGTC	0.687													15	29					0	0	1	0	0	C	45404868	T	C	45404868	3	2	56	1	0	0	0	0	1	0	0	0	4827	1406	49	3	4561	3	DUOX2	15	45404868	Missense_Mutation	SNP	T	TCGA-EJ-5519-01A-01D-1576-08		45404868	57126524	81	2872			1	11		2	2	23	N	T_C	7.888122e-05
DUOX2	50506	broad.mit.edu	37	chr15	45404890	45404890	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaccgtcggcgtaattggCtggtacgcggcgctgcaacc	7	7	13	14	6	0	0	0	0	0	0	1	0	0	0	2	4	3	5	2	4	3	3			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr15:45404890C>G	ENST00000389039.6	-	4	572	c.187G>C	c.(187-189)Gcc>Ccc	p.A63P	DUOX2_ENST00000603300.1_Missense_Mutation_p.A63P			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	63	Peroxidase-like; mediates peroxidase activity (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity	p.A63P(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GCGTAATTGGCTGGTACGCGG	0.682													18	28					0	0	1	0	0	G	45404890	C	G	45404890	3	3	56	1	0	0	0	0	1	0	0	0	4827	797	28	4	4583	4	DUOX2	15	45404890	Missense_Mutation	SNP	C	TCGA-EJ-5519-01A-01D-1576-08	22	45404890	57126502	82	2873			1	11		2	2	23	N	T_C	7.888122e-05
GNB5	0	broad.mit.edu	37	chr15	52433404	52433404	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcatagcaacagacttctttTtggcagccatgttttcattt	9	16	7	9	0	2	1	1	0	1	1	2	1	2	1	1	1	3	4	1	1	2	7			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr15:52433404T>C	ENST00000261837.7	-	7	625	c.560A>G	c.(559-561)aAa>aGa	p.K187R	GNB5_ENST00000358784.7_Missense_Mutation_p.K145R|GNB5_ENST00000396335.4_Intron	NM_016194.3	NP_057278.2	O14775	GBB5_HUMAN	guanine nucleotide binding protein (G protein), beta 5	187						heterotrimeric G-protein complex	GTPase activity|signal transducer activity	p.K187R(1)		large_intestine(1)|lung(1)	2				all cancers(107;0.0163)		AGACTTCTTTTTGGCAGCCAT	0.453													49	80					0	0	1	0	0	C	52433404	T	C	52433404	3	2	56	1	0	0	0	0	1	0	0	0	6563	1841	64	3	655	3	GNB5	15	52433404	Missense_Mutation	SNP	T	TCGA-EJ-5519-01A-01D-1576-08	7028514	52433404	50097988	83	2874											
RSPRY1	89970	broad.mit.edu	37	chr16	57243065	57243065	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actgggaccagctgttataaCattgttactagatgaatgtc	12	13	9	7	0	0	2	0	1	0	1	1	3	0	3	1	1	3	3	1	1	5	5			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr16:57243065C>T	ENST00000537866.1	+	4	1355	c.482C>T	c.(481-483)aCa>aTa	p.T161I	RSPRY1_ENST00000394420.4_Missense_Mutation_p.T161I			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	161						extracellular region	zinc ion binding	p.T161I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						GCTGTTATAACATTGTTACTA	0.348													24	388					0	0	1	0	0	T	57243065	C	T	57243065	3	4	56	1	0	0	0	0	1	0	0	0	13765	478	17	2	492	2	RSPRY1	16	57243065	Missense_Mutation	SNP	C	TCGA-EJ-5519-01A-01D-1576-08		57243065	33111688	84	2875											
PDP2	57546	broad.mit.edu	37	chr16	66919043	66919043	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcacgtggcaaatgctggtGactgccgagccatccttggt	7	10	13	11	2	0	1	0	1	0	0	1	2	1	1	3	3	4	3	3	3	1	1			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr16:66919043G>A	ENST00000311765.2	+	2	1190	c.856G>A	c.(856-858)Gac>Aac	p.D286N	PDP2_ENST00000568720.1_Intron	NM_020786.2	NP_065837.1	Q9P2J9	PDP2_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 2	286					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding	p.D286N(1)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		AAATGCTGGTGACTGCCGAGC	0.557													14	70					0	0	1	0	0	A	66919043	G	A	66919043	3	1	56	1	0	0	0	0	1	0	0	0	11733	1290	45	2	858	2	PDP2	16	66919043	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	9675978	66919043	23435710	85	2876											
RABEP1	9135	broad.mit.edu	37	chr17	5264856	5264856	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaggcgatgacaccagaacaAgaagagacagcgtccctcct	15	4	10	12	2	0	4	0	1	0	3	2	6	2	4	3	1	2	0	3	1	4	0			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr17:5264856A>G	ENST00000262477.6	+	9	1673	c.1449A>G	c.(1447-1449)caA>caG	p.Q483Q	RABEP1_ENST00000546142.2_Silent_p.Q483Q|RABEP1_ENST00000537505.1_Silent_p.Q440Q|RABEP1_ENST00000408982.2_Silent_p.Q483Q|RABEP1_ENST00000341923.6_Silent_p.Q483Q|NUP88_ENST00000573169.1_5'UTR	NM_004703.4	NP_004694.2	Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	483					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity	p.Q483Q(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						CACCAGAACAAGAAGAGACAG	0.478													40	34					0	0	1	0	0	G	5264856	A	G	5264856	2	3	56	1	0	0	0	0	0	0	0	1	13013	69	3	3		3	RABEP1	17	5264856	Silent	SNP	A	TCGA-EJ-5519-01A-01D-1576-08		5264856	75930354	86	2877											
KCNAB3	9196	broad.mit.edu	37	chr17	7827736	7827736	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggtcacacactcaccatGatttctgcagccccccatcg	8	9	8	16	1	3	1	2	1	1	0	4	1	3	1	4	2	2	1	4	2	0	1	rs145774275		TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr17:7827736G>T	ENST00000303790.2	-	9	707	c.708C>A	c.(706-708)atC>atA	p.I236I		NM_004732.3	NP_004723.2	O43448	KCAB3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 3	236						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	p.I236I(1)		breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	8		Prostate(122;0.157)				CACTCACCATGATTTCTGCAG	0.572													3	57					1	1	1	1	0	T	7827736	G	T	7827736	2	4	56	1	0	0	0	0	0	0	0	1	8055	1280	45	4		4	KCNAB3	17	7827736	Silent	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	2562880	7827736	73367474	87	2878											
PEMT	10400	broad.mit.edu	37	chr17	17412831	17412831	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaggggaacacggtcactctCgcctccttgaggatcccgaa	10	7	11	13	3	2	1	1	1	1	0	5	4	4	3	3	4	1	0	3	4	3	1			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr17:17412831C>T	ENST00000395781.2	-	5	576	c.495G>A	c.(493-495)gcG>gcA	p.A165A	PEMT_ENST00000395782.1_Silent_p.A128A|PEMT_ENST00000484838.2_5'UTR|PEMT_ENST00000255389.5_Silent_p.A165A|PEMT_ENST00000395783.1_Silent_p.A128A|PEMT_ENST00000435340.2_Silent_p.A143A	NM_001267552.1	NP_001254481.1	Q9UBM1	PEMT_HUMAN	phosphatidylethanolamine N-methyltransferase	128					cell proliferation|phosphatidylcholine biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane	phosphatidylethanolamine N-methyltransferase activity	p.A165A(1)		endometrium(1)|kidney(1)|large_intestine(2)|prostate(3)	7				Colorectal(2;0.0157)|READ - Rectum adenocarcinoma(2;0.0891)		CGGTCACTCTCGCCTCCTTGA	0.592													11	72					0	0	1	0	0	T	17412831	C	T	17412831	2	4	56	1	0	0	0	0	0	0	0	1	11773	871	31	1		1	PEMT	17	17412831	Silent	SNP	C	TCGA-EJ-5519-01A-01D-1576-08	9585095	17412831	63782379	88	2879											
MFAP4	4239	broad.mit.edu	37	chr17	19288435	19288435	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccgccatcctcaaagcctGccacaaagagggtgtagcca	11	5	9	16	1	1	1	1	0	0	1	2	1	2	1	7	1	3	1	7	1	3	1			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr17:19288435G>A	ENST00000395592.2	-	5	640	c.569C>T	c.(568-570)gCa>gTa	p.A190V	MFAP4_ENST00000299610.4_Missense_Mutation_p.A166V|MFAP4_ENST00000497081.2_Missense_Mutation_p.A191V	NM_001198695.1	NP_001185624.1	P55083	MFAP4_HUMAN	microfibrillar-associated protein 4	166	Fibrinogen C-terminal.				cell adhesion|signal transduction	microfibril	receptor binding	p.A166V(1)		large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	10	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CTCAAAGCCTGCCACAAAGAG	0.602													34	37					0	0	1	0	0	A	19288435	G	A	19288435	3	1	56	1	0	0	0	0	1	0	0	0	9567	1319	46	2	278	2	MFAP4	17	19288435	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	1875604	19288435	61906775	89	2880											
UBTF	7343	broad.mit.edu	37	chr17	42284563	42284563	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaaggtggtcagttggggaGgggagctcctgggctctccc	6	8	17	10	0	2	0	1	0	1	0	4	2	3	2	2	7	1	3	2	7	1	1			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr17:42284563G>C	ENST00000527034.1	-	20	2408	c.2227C>G	c.(2227-2229)Ctc>Gtc	p.L743V	UBTF_ENST00000533177.1_3'UTR|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000436088.1_3'UTR|UBTF_ENST00000393606.3_3'UTR|UBTF_ENST00000302904.4_3'UTR|UBTF_ENST00000343638.5_3'UTR			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	0	Asp/Glu/Ser-rich (acidic).				positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CAGTTGGGGAGGGGAGCTCCT	0.567													15	25					0	0	1	0	0	C	42284563	G	C	42284563	3	2	56	1	0	0	0	0	1	0	0	0	16970	1015	35	4		4	UBTF	17	42284563	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	22996128	42284563	38910647	90	2881											
SEPT4	5414	broad.mit.edu	37	chr17	56598642	56598642	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatgccccaggggtagagtcGaccccgaactcgccgccctc	7	5	12	17	4	0	1	0	0	0	1	3	4	0	1	6	2	2	1	6	2	2	1			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr17:56598642G>A	ENST00000457347.2	-	10	1276	c.1132C>T	c.(1132-1134)Cga>Tga	p.R378*	SEPT4_ENST00000393086.1_Nonsense_Mutation_p.R344*|SEPT4_ENST00000583114.1_Nonsense_Mutation_p.R216*|SEPT4_ENST00000580844.1_Nonsense_Mutation_p.R264*|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000579371.1_Nonsense_Mutation_p.R264*|SEPT4_ENST00000317268.3_Nonsense_Mutation_p.R363*|SEPT4_ENST00000317256.6_Nonsense_Mutation_p.R344*|SEPT4_ENST00000426861.1_3'UTR|SEPT4_ENST00000412945.3_Nonsense_Mutation_p.R355*	NM_001256782.1	NP_001243711.1	O43236	SEPT4_HUMAN	septin 4	363					apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity	p.R363*(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGGTAGAGTCGACCCCGAACT	0.582											OREG0024614	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	95					0	0	1	0	0	A	56598642	G	A	56598642	4	1	56	1	0	0	0	0	0	1	0	0	14120	1066	37	1	365	1	SEPT4	17	56598642	Nonsense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	14314079	56598642	24596568	91	2882											
TUBD1	51174	broad.mit.edu	37	chr17	57955539	57955539	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacacttcccagctgatgtgCgaggacttgattgatatcac	10	11	9	11	1	1	3	1	3	0	0	2	5	2	4	1	1	2	1	1	1	1	4			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr17:57955539C>T	ENST00000325752.3	-	5	971	c.694G>A	c.(694-696)Gca>Aca	p.A232T	TUBD1_ENST00000394239.3_Missense_Mutation_p.A232T|TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000340993.6_Missense_Mutation_p.A232T|TUBD1_ENST00000376094.4_Missense_Mutation_p.A232T|TUBD1_ENST00000539018.1_Missense_Mutation_p.A16T|TUBD1_ENST00000592426.1_Missense_Mutation_p.A232T	NM_016261.3	NP_057345.2	Q9UJT1	TBD_HUMAN	tubulin, delta 1	232					cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity	p.A232T(1)		NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)			AGCTGATGTGCGAGGACTTGA	0.418													47	120					0	0	1	0	0	T	57955539	C	T	57955539	3	4	56	1	0	0	0	0	1	0	0	0	16824	768	27	1	687	1	TUBD1	17	57955539	Missense_Mutation	SNP	C	TCGA-EJ-5519-01A-01D-1576-08	1356897	57955539	23239671	92	2883											
PSMG2	56984	broad.mit.edu	37	chr18	12706677	12706677	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggaaacaatccatatgcGaccacagaaggaaattcaac	17	7	8	9	1	1	1	1	0	0	1	2	4	2	3	2	2	3	1	2	2	6	3			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr18:12706677G>T	ENST00000317615.6	+	2	868	c.186G>T	c.(184-186)gcG>gcT	p.A62A	PSMG2_ENST00000590217.1_Silent_p.A62A|RP11-973H7.2_ENST00000585331.1_RNA	NM_020232.4|NM_147163.1	NP_064617.2|NP_671692.1	Q969U7	PSMG2_HUMAN	proteasome (prosome, macropain) assembly chaperone 2	62					proteasome assembly	nucleus	protein binding	p.A62A(1)		lung(1)|prostate(2)|skin(1)	4						ATCCATATGCGACCACAGAAG	0.348													48	50					4.64027e-19	5.26173e-19	1	1	0	T	12706677	G	T	12706677	2	4	56	1	0	0	0	0	0	0	0	1	12761	1045	37	4		4	PSMG2	18	12706677	Silent	SNP	G	TCGA-EJ-5519-01A-01D-1576-08		12706677	65370571	93	2884											
ROCK1	6093	broad.mit.edu	37	chr18	18690838	18690839	+	In_Frame_Ins	INS	-	-	AAA																															agcaggttgtccattttttcINSaaatcgagtctcaaaactgt																										TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr18:18690838_18690839insAAA	ENST00000399799.1	-	1	973_974	c.33_34insTTT	c.(31-36)ttaaaa>ttTTTaaaa	p.11_12insF		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	11					actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TCCATTTTTTCAAATCGAGTCT	0.485													43	140	---	---	---	---						AAA	18690839	-	AAA	18690838	7	5	56	1	0	1	1	0	0	0	0	0	13569	835	29	0	4162	0	ROCK1	18	18690838	In_Frame_Ins	INS	-	TCGA-EJ-5519-01A-01D-1576-08	5984161	18690838	59386410	94	2885											
ZNF556	80032	broad.mit.edu	37	chr19	2878237	2878237	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggacagaagcccagtaaatgCgaaaaatgtgggaaagcttt	16	7	12	6	1	0	1	0	0	0	1	0	4	0	3	1	2	3	2	1	2	6	2			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr19:2878237C>T	ENST00000586426.1	+	4	1365	c.1278C>T	c.(1276-1278)tgC>tgT	p.C426C	ZNF556_ENST00000307635.2_Silent_p.C427C			Q9HAH1	ZN556_HUMAN	zinc finger protein 556	427					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C427C(4)		endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGTAAATGCGAAAAATGTG	0.448													5	192					0	0	1	0	0	T	2878237	C	T	2878237	2	4	56	1	0	0	0	0	0	0	0	1	18044	776	27	1		1	ZNF556	19	2878237	Silent	SNP	C	TCGA-EJ-5519-01A-01D-1576-08		2878237	56250746	95	2886											
CHAF1A	10036	broad.mit.edu	37	chr19	4432096	4432096	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgacagagactgcgcaggcGatgacctgaaggtactgcag	11	6	14	10	2	0	4	0	3	0	1	0	6	0	4	1	2	3	3	1	2	2	1			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr19:4432096G>A	ENST00000301280.5	+	12	2196	c.2095G>A	c.(2095-2097)Gat>Aat	p.D699N	CHAF1A_ENST00000587368.1_3'UTR	NM_005483.2	NP_005474.2	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	699	Binds to p60.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding	p.D699N(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCGCAGGCGATGACCTGAA	0.637								Chromatin Structure					14	65					0	0	1	0	0	A	4432096	G	A	4432096	3	1	56	1	0	0	0	0	1	0	0	0	3333	1058	37	1	2141	1	CHAF1A	19	4432096	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	1553859	4432096	54696887	96	2887											
EMR2	30817	broad.mit.edu	37	chr19	14865794	14865794	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgtagtgggccatgaggacgGcaaagctgctcaggtgggtg	8	7	18	8	2	1	1	1	1	0	0	1	2	1	2	1	5	2	4	1	5	2	1	rs146763976		TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr19:14865794G>A	ENST00000315576.3	-	14	2013	c.1562C>T	c.(1561-1563)gCc>gTc	p.A521V	EMR2_ENST00000595839.1_Missense_Mutation_p.A379V|EMR2_ENST00000596991.2_Missense_Mutation_p.A510V|EMR2_ENST00000601345.1_Missense_Mutation_p.A510V|EMR2_ENST00000392964.3_Silent_p.C185C|EMR2_ENST00000353005.1_Missense_Mutation_p.A379V|EMR2_ENST00000346057.1_Missense_Mutation_p.A472V|EMR2_ENST00000594076.1_Missense_Mutation_p.A428V|EMR2_ENST00000392967.2_Missense_Mutation_p.A510V|EMR2_ENST00000353876.1_Missense_Mutation_p.A428V|EMR2_ENST00000594294.1_Missense_Mutation_p.A472V|EMR2_ENST00000392965.3_Intron	NM_013447.2	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	521	GPS.				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.A521V(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						CATGAGGACGGCAAAGCTGCT	0.572													5	103					0	0	1	0	0	A	14865794	G	A	14865794	3	1	56	1	0	0	0	0	1	0	0	0	5133	1203	42	2	941	2	EMR2	19	14865794	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	10433698	14865794	44263189	97	2888											
OR7C1	26664	broad.mit.edu	37	chr19	14910838	14910838	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcaggttcccggtgaaagtGactaggtacatggagaggaa	13	7	15	6	1	0	3	0	2	0	1	1	5	1	4	1	5	2	3	1	5	4	3			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr19:14910838G>C	ENST00000248073.2	-	1	185	c.111C>G	c.(109-111)gtC>gtG	p.V37V	OR7A5_ENST00000601611.1_Intron	NM_198944.1	NP_945182.1	O76099	OR7C1_HUMAN	olfactory receptor, family 7, subfamily C, member 1	37					sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity	p.V37V(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						CGGTGAAAGTGACTAGGTACA	0.493													6	144					0	0	1	0	0	C	14910838	G	C	14910838	2	2	56	1	0	0	0	0	0	0	0	1	11264	1277	45	4		4	OR7C1	19	14910838	Silent	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	45044	14910838	44218145	98	2889											
OR7A5	26659	broad.mit.edu	37	chr19	14938095	14938095	+	Nonstop_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcttagagccctgcaatCatgggcacttcttgaaaaat	13	10	9	9	0	2	2	1	1	1	1	2	3	2	2	1	1	3	3	1	1	5	3			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr19:14938095C>A	ENST00000322301.3	-	2	1046	c.959G>T	c.(958-960)tGa>tTa	p.*320L	OR7A5_ENST00000594432.1_Nonstop_Mutation_p.*320L|OR7A5_ENST00000601611.1_Intron			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.*320L(1)		breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						GCCCTGCAATCATGGGCACTT	0.383													63	132					2.89935e-36	3.44129e-36	1	1	0	A	14938095	C	A	14938095	4	1	56	1	0	0	0	0	0	0	0	0	11263	837	29	4	4	4	OR7A5	19	14938095	Nonstop_Mutation	SNP	C	TCGA-EJ-5519-01A-01D-1576-08	27257	14938095	44190888	99	2890											
B3GNT3	10331	broad.mit.edu	37	chr19	17922668	17922668	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggccgctgccctgcgccgtGctgcccatgtcttggacatc	3	9	12	17	4	1	0	0	0	1	0	2	1	1	1	4	2	4	2	4	2	0	1			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr19:17922668G>C	ENST00000318683.6	+	3	1003	c.856G>C	c.(856-858)Gct>Cct	p.A286P	B3GNT3_ENST00000595387.1_Missense_Mutation_p.A286P	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	286					protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity	p.A286P(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						CCTGCGCCGTGCTGCCCATGT	0.602													32	114					0	0	1	0	0	C	17922668	G	C	17922668	3	2	56	1	0	0	0	0	1	0	0	0	1256	1319	46	4	862	4	B3GNT3	19	17922668	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	2984573	17922668	41206315	100	2891											
KRTDAP	388533	broad.mit.edu	37	chr19	35981320	35981320	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggagggagaggagcaccaCggcaggaaggaccgggatct	12	2	18	9	2	1	1	0	0	1	1	1	7	1	6	2	7	1	2	2	7	1	0			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr19:35981320C>T	ENST00000338897.3	-	1	113	c.25G>A	c.(25-27)Gtg>Atg	p.V9M	KRTDAP_ENST00000484218.2_Missense_Mutation_p.V9M|KRTDAP_ENST00000479340.1_Intron	NM_207392.2	NP_997275.1	P60985	KTDAP_HUMAN	keratinocyte differentiation-associated protein	9					cell differentiation	extracellular region		p.V9M(1)		breast(1)|lung(4)|prostate(1)	6	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			AGGAGCACCACGGCAGGAAGG	0.572													6	150					0	0	1	0	0	T	35981320	C	T	35981320	3	4	56	1	0	0	0	0	1	0	0	0	8619	536	19	1	298	1	KRTDAP	19	35981320	Missense_Mutation	SNP	C	TCGA-EJ-5519-01A-01D-1576-08	18058652	35981320	23147663	101	2892											
SIPA1L3	23094	broad.mit.edu	37	chr19	38600988	38600988	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcacgtcttcatcattgtccGagtccacaacccctgcactg	8	10	7	16	2	3	0	2	0	1	0	5	1	5	0	4	0	2	2	4	0	1	2			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr19:38600988G>A	ENST00000222345.6	+	8	2764	c.2255G>A	c.(2254-2256)cGa>cAa	p.R752Q		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	752	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	p.R752Q(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			ATCATTGTCCGAGTCCACAAC	0.597													26	31					0	0	1	0	0	A	38600988	G	A	38600988	3	1	56	1	0	0	0	0	1	0	0	0	14386	1058	37	1	2277	1	SIPA1L3	19	38600988	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	2619668	38600988	20527995	102	2893											
KIF16B	55614	broad.mit.edu	37	chr20	16360552	16360552	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgcggagaaaggtctcttCttcttgtctcttcttctgca	6	15	9	11	2	6	1	0	0	6	1	8	3	6	1	0	2	1	1	0	2	1	5			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr20:16360552C>A	ENST00000354981.2	-	19	2252	c.2095G>T	c.(2095-2097)Gaa>Taa	p.E699*	KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000408042.1_Nonsense_Mutation_p.E699*|KIF16B_ENST00000355755.3_Nonsense_Mutation_p.E699*	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	699	Glu-rich.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	p.E699*(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						AAGGTCTCTTCTTCTTGTCTC	0.448													76	184					1.77355e-41	2.12492e-41	1	1	0	A	16360552	C	A	16360552	4	1	56	1	0	0	0	0	0	1	0	0	8320	922	32	4	1890	4	KIF16B	20	16360552	Nonsense_Mutation	SNP	C	TCGA-EJ-5519-01A-01D-1576-08		16360552	46664968	103	2894											
NAA20	51126	broad.mit.edu	37	chr20	20013297	20013297	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcctgatgaggacgcttatGgtaagctcccttccatggca	9	10	11	11	1	0	2	0	2	0	0	2	3	2	3	3	3	2	4	3	3	2	3			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr20:20013297G>A	ENST00000398602.2	+	5	1050	c.415_splice	c.e5+1	p.D139_splice	NAA20_ENST00000310450.4_Intron|NAA20_ENST00000484480.1_3'UTR|NAA20_ENST00000334982.4_Splice_Site_p.D151_splice	NM_181527.3	NP_852668.1	P61599	NAA20_HUMAN	N(alpha)-acetyltransferase 20, NatB catalytic subunit	151	N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity	p.D151N(1)		endometrium(3)|lung(2)|prostate(1)	6						GGACGCTTATGGTAAGCTCCC	0.408													10	77					0	0	1	0	0	A	20013297	G	A	20013297	5	1	56	1	0	0	0	0	0	0	1	0	10168	1362	47	2	490	2	NAA20	20	20013297	Splice_Site	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	3652745	20013297	43012223	104	2895											
STK4	6789	broad.mit.edu	37	chr20	43703680	43703680	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttaagagttggacagtggagGaccttcagaagaggctcttg	11	10	14	6	0	2	3	1	0	1	3	2	6	2	6	1	4	0	2	1	4	2	4			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr20:43703680G>A	ENST00000372806.3	+	11	1422	c.1327G>A	c.(1327-1329)Gac>Aac	p.D443N	STK4_ENST00000372801.1_3'UTR|STK4_ENST00000499879.2_Missense_Mutation_p.D388N	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN	serine/threonine kinase 4	443	SARAH.				apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding	p.D443N(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				GACAGTGGAGGACCTTCAGAA	0.542													5	68					0	0	1	0	0	A	43703680	G	A	43703680	3	1	56	1	0	0	0	0	1	0	0	0	15362	1174	41	2	1369	2	STK4	20	43703680	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	23690383	43703680	19321840	105	2896											
ADNP	23394	broad.mit.edu	37	chr20	49509965	49509965	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagggcctgtggcagctgcaGcaggtttggaactggactga	8	8	17	8	0	0	1	0	1	0	0	0	4	0	3	1	5	4	5	1	5	1	1			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr20:49509965G>C	ENST00000396029.3	-	5	1853	c.1286C>G	c.(1285-1287)gCt>gGt	p.A429G	ADNP_ENST00000349014.3_Missense_Mutation_p.A429G|ADNP_ENST00000396032.3_Missense_Mutation_p.A429G|ADNP_ENST00000371602.4_Missense_Mutation_p.A429G	NM_015339.2	NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	429						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A429G(1)		NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						GGCAGCTGCAGCAGGTTTGGA	0.473													64	154					0	0	1	0	0	C	49509965	G	C	49509965	3	2	56	1	0	0	0	0	1	0	0	0	322	971	34	4	2026	4	ADNP	20	49509965	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08	5806285	49509965	13515555	106	2897											
ZNF512B	57473	broad.mit.edu	37	chr20	62598086	62598086	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgggtcttagaggtgaatgCggcctcgcagaaggggcagg	8	7	18	8	2	1	3	0	1	1	2	2	3	1	3	1	6	1	2	1	6	3	1			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr20:62598086C>T	ENST00000450537.1	-	5	502	c.442G>A	c.(442-444)Gca>Aca	p.A148T	ZNF512B_ENST00000217130.3_Missense_Mutation_p.A148T|ZNF512B_ENST00000369888.1_Missense_Mutation_p.A148T			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	148					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A148T(2)		NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GAGGTGAATGCGGCCTCGCAG	0.647													3	60					0	0	1	0	0	T	62598086	C	T	62598086	3	4	56	1	0	0	0	0	1	0	0	0	18014	768	27	1	2288	1	ZNF512B	20	62598086	Missense_Mutation	SNP	C	TCGA-EJ-5519-01A-01D-1576-08	13088121	62598086	427434	107	2898											
KRTAP10-1	386677	broad.mit.edu	37	chr21	45959620	45959620	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaggcacacagcaggactgCtggctggaggaagaggcaca	13	3	15	10	0	0	1	0	0	0	1	0	4	0	4	0	6	2	5	0	6	1	0			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr21:45959620C>T	ENST00000400375.1	-	1	458	c.414G>A	c.(412-414)caG>caA	p.Q138Q	TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	138	24 X 5 AA repeats of C-C-X(3).					keratin filament		p.Q138Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						AGCAGGACTGCTGGCTGGAGG	0.582													33	26					0	0	1	0	0	T	45959620	C	T	45959620	2	4	56	1	0	0	0	0	0	0	0	1	8548	796	28	2		2	KRTAP10-1	21	45959620	Silent	SNP	C	TCGA-EJ-5519-01A-01D-1576-08		45959620	2170275	108	2899											
SF3A1	10291	broad.mit.edu	37	chr22	30736751	30736751	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagaggtggaggcatgggTgtctctgggggtgggggcac	5	7	23	6	0	1	1	0	0	1	1	2	2	1	2	0	9	0	3	0	9	0	0			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr22:30736751T>C	ENST00000439242.1	-	8	1058	c.927A>G	c.(925-927)acA>acG	p.T309T	SF3A1_ENST00000215793.7_Silent_p.T374T	NM_001005409.1	NP_001005409.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	374					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding	p.T374T(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						GAGGCATGGGTGTCTCTGGGG	0.582													59	112					0	0	1	0	0	C	30736751	T	C	30736751	2	2	56	1	0	0	0	0	0	0	0	1	14200	1683	59	3		3	SF3A1	22	30736751	Silent	SNP	T	TCGA-EJ-5519-01A-01D-1576-08		30736751	20567815	109	2900											
ISX	91464	broad.mit.edu	37	chr22	35481682	35481682	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagcatctgtgctacttcaaCatagagattggacatgctct	11	12	8	10	0	3	1	1	0	2	1	3	3	3	2	0	1	5	3	0	1	3	4			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chr22:35481682C>G	ENST00000308700.6	+	4	1686	c.734C>G	c.(733-735)aCa>aGa	p.T245R	ISX_ENST00000404699.2_Missense_Mutation_p.T245R	NM_001008494.1	NP_001008494.1	Q2M1V0	ISX_HUMAN	intestine-specific homeobox	245						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.T245R(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						GCTACTTCAACATAGAGATTG	0.532													3	121					0	0	1	0	0	G	35481682	C	G	35481682	3	3	56	1	0	0	0	0	1	0	0	0	7909	478	17	4	748	4	ISX	22	35481682	Missense_Mutation	SNP	C	TCGA-EJ-5519-01A-01D-1576-08	4744931	35481682	15822884	110	2901											
GUCY2F	2986	broad.mit.edu	37	chrX	108718895	108718895	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtattcaaaagaataactcaGgtcaaaagatgggtcccggt	15	9	10	7	1	3	2	3	0	0	2	4	2	4	2	1	3	1	1	1	3	7	3			TCGA-EJ-5519-01A-01D-1576-08	TCGA-EJ-5519-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2e3ac0f-09b3-4b5b-96a0-837dd9188192	40748368-1c04-420d-b21a-6a2a78ad0c6b	g.chrX:108718895G>C	ENST00000218006.2	-	2	562	c.271C>G	c.(271-273)Ctg>Gtg	p.L91V		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	91					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	p.L91V(2)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						GAATAACTCAGGTCAAAAGAT	0.502											OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	96	44					0	0	1	0	0	C	108718895	G	C	108718895	3	2	56	1	0	0	0	0	1	0	0	0	6939	991	35	4	3127	4	GUCY2F	23	108718895	Missense_Mutation	SNP	G	TCGA-EJ-5519-01A-01D-1576-08		108718895	46551665	111	2902											
KCNA2	3737	broad.mit.edu	37	chr1	111147494	111147494	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctactggccccaggaagcaCaggagcattggcctggtctc	8	7	13	13	0	1	0	0	0	1	0	2	2	1	2	3	5	3	3	3	5	2	2			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr1:111147494C>T	ENST00000485317.1	-	0	584				KCNA2_ENST00000440270.1_De_novo_Start_InFrame|KCNA2_ENST00000316361.4_De_novo_Start_InFrame|KCNA2_ENST00000525120.1_Intron|KCNA2_ENST00000369770.3_De_novo_Start_InFrame			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2							juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		CCAGGAAGCACAGGAGCATTG	0.582													13	48					0	0	1	0	0	T	111147494	C	T	111147494	1	4	57	1	0	0	0	0	0	0	0	0	8047	493	17	2		2	KCNA2	1	111147494	Translation_Start_Site	SNP	C	TCGA-EJ-5521-01A-01D-1576-08		111147494	138103127	1	2903											
HIPK1	204851	broad.mit.edu	37	chr1	114483187	114483187	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagccaactcctctcaccAggtagcaaatttcaacatcc	13	8	5	15	0	2	0	2	0	1	0	5	0	4	0	4	1	4	3	4	1	5	2			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr1:114483187A>G	ENST00000369558.1	+	2	414	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HIPK1_ENST00000369559.4_Missense_Mutation_p.Q61R|HIPK1_ENST00000369561.4_Missense_Mutation_p.Q61R|HIPK1_ENST00000369554.2_Missense_Mutation_p.Q61R|HIPK1_ENST00000369555.2_Missense_Mutation_p.Q61R|HIPK1_ENST00000426820.2_Missense_Mutation_p.Q61R			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	61					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.Q61R(3)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCTCTCACCAGGTAGCAAAT	0.537													15	227					0	0	1	0	0	G	114483187	A	G	114483187	3	3	57	1	0	0	0	0	1	0	0	0	7157	188	7	3	184	3	HIPK1	1	114483187	Missense_Mutation	SNP	A	TCGA-EJ-5521-01A-01D-1576-08	3335693	114483187	134767434	2	2904											
KIRREL	55243	broad.mit.edu	37	chr1	158064571	158064571	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcccgtctctcccactccagCggctatgcccagctcaacac	7	8	6	20	2	2	0	1	0	1	0	6	0	5	0	4	1	4	2	4	1	2	1			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr1:158064571C>T	ENST00000368172.1	+	11	1389	c.1377C>T	c.(1375-1377)agC>agT	p.S459S	KIRREL_ENST00000359209.6_Silent_p.S645S|KIRREL_ENST00000360089.4_Silent_p.S481S|KIRREL_ENST00000392272.2_Silent_p.S542S|KIRREL_ENST00000416935.2_Silent_p.S545S|KIRREL_ENST00000368173.3_Silent_p.S661S			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	645	Ig-like C2-type 5.					integral to membrane		p.S661S(1)|p.S481S(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					CCCACTCCAGCGGCTATGCCC	0.672													6	39					0	0	1	0	0	T	158064571	C	T	158064571	2	4	57	1	0	0	0	0	0	0	0	1	8367	767	27	1		1	KIRREL	1	158064571	Silent	SNP	C	TCGA-EJ-5521-01A-01D-1576-08	43581384	158064571	91186050	3	2905											
OR10Z1	128368	broad.mit.edu	37	chr1	158577155	158577155	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatgctttcagagggagattGctgggtaaaggatgaaggtt	12	11	15	3	0	1	3	1	1	0	2	1	5	1	4	0	4	2	4	0	4	4	4			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr1:158577155G>T	ENST00000361284.1	+	1	927	c.927G>T	c.(925-927)ttG>ttT	p.L309F		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L309F(1)		endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					GAGGGAGATTGCTGGGTAAAG	0.478													11	241					1.58986e-06	1.76652e-06	1	1	0	T	158577155	G	T	158577155	3	4	57	1	0	0	0	0	1	0	0	0	10971	1310	46	4	929	4	OR10Z1	1	158577155	Missense_Mutation	SNP	G	TCGA-EJ-5521-01A-01D-1576-08	512584	158577155	90673466	4	2906											
FAM5C	0	broad.mit.edu	37	chr1	190129810	190129810	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcttacctttgtcttggcAggctgatgaggggttgttta	5	17	13	6	0	2	2	0	2	2	0	2	2	2	2	1	4	1	4	1	4	2	6			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr1:190129810A>G	ENST00000367462.3	-	7	1403	c.1172T>C	c.(1171-1173)cTg>cCg	p.L391P	FAM5C_ENST00000534846.1_Missense_Mutation_p.L289P|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		391						extracellular region		p.L391P(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TTGTCTTGGCAGGCTGATGAG	0.373													13	135					0	0	1	0	0	G	190129810	A	G	190129810	3	3	57	1	0	0	0	0	1	0	0	0	5629	188	7	3	1136	3	FAM5C	1	190129810	Missense_Mutation	SNP	A	TCGA-EJ-5521-01A-01D-1576-08	31552655	190129810	59120811	5	2907											
OR2B11	127623	broad.mit.edu	37	chr1	247614412	247614412	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttctcagggtgtaggtgaaGggattgagagtgggggtgat	8	12	19	2	0	1	3	1	3	1	1	2	5	1	4	0	5	0	1	0	5	2	3			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr1:247614412G>T	ENST00000318749.6	-	1	896	c.873C>A	c.(871-873)ccC>ccA	p.P291P		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P291P(2)		endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TGTAGGTGAAGGGATTGAGAG	0.488													6	423					0.0215528	0.0223925	1	1	0	T	247614412	G	T	247614412	2	4	57	1	0	0	0	0	0	0	0	1	11036	987	35	4		4	OR2B11	1	247614412	Silent	SNP	G	TCGA-EJ-5521-01A-01D-1576-08	57484602	247614412	1636209	6	2908											
OR2T3	343173	broad.mit.edu	37	chr1	248637353	248637353	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catctcatccacaggatgaaTtctgccgccggccacaggaa	11	7	9	14	2	2	1	1	1	2	0	4	3	3	3	4	3	1	0	4	3	2	1			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr1:248637353T>A	ENST00000359594.2	+	1	727	c.702T>A	c.(700-702)aaT>aaA	p.N234K		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N234K(1)		breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACAGGATGAATTCTGCCGCCG	0.562													13	143					0	0	1	0	0	A	248637353	T	A	248637353	3	1	57	1	0	0	0	0	1	0	0	0	11071	1490	52	5	704	5	OR2T3	1	248637353	Missense_Mutation	SNP	T	TCGA-EJ-5521-01A-01D-1576-08	1022941	248637353	613268	7	2909											
NBAS	51594	broad.mit.edu	37	chr2	15378658	15378658	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccaggtgggcaagtgatttCtccagatgattcaaagtatc	11	12	10	8	0	2	3	1	2	1	1	5	3	3	3	2	2	0	2	2	2	3	3			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr2:15378658C>T	ENST00000281513.5	-	45	5902	c.5877G>A	c.(5875-5877)gaG>gaA	p.E1959E	NBAS_ENST00000441750.1_Silent_p.E1839E	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1959								p.E1959E(1)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CAAGTGATTTCTCCAGATGAT	0.408													9	110					0	0	1	0	0	T	15378658	C	T	15378658	2	4	57	1	0	0	0	0	0	0	0	1	10234	912	32	2		2	NBAS	2	15378658	Silent	SNP	C	TCGA-EJ-5521-01A-01D-1576-08		15378658	227820715	8	2910											
DNMT3A	1788	broad.mit.edu	37	chr2	25505422	25505422	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccctctgctggggccccGcccttctgccccccagcagg	2	8	10	21	1	3	0	0	0	3	0	4	0	3	0	7	3	3	2	7	3	0	1			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr2:25505422G>A	ENST00000264709.3	-	4	673	c.336C>T	c.(334-336)ggC>ggT	p.G112G	DNMT3A_ENST00000321117.5_Silent_p.G112G|DNMT3A_ENST00000406659.3_Silent_p.G112G	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	112					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	p.G112G(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGGGGCCCCGCCCTTCTGCC	0.667			"Mis, F, N, S"		AML								4	96					0	0	1	0	0	A	25505422	G	A	25505422	2	1	57	1	0	0	0	0	0	0	0	1	4703	1074	38	1		1	DNMT3A	2	25505422	Silent	SNP	G	TCGA-EJ-5521-01A-01D-1576-08	10126764	25505422	217693951	9	2911											
NPAS2	4862	broad.mit.edu	37	chr2	101607290	101607290	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatgcccgggtcctgtgaCgcaaggcagccctcggaagt	8	7	14	12	3	0	2	0	2	0	0	2	3	1	3	3	3	2	2	3	3	2	0	rs146215582	byFrequency	TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr2:101607290C>T	ENST00000335681.5	+	19	2352	c.2067C>T	c.(2065-2067)gaC>gaT	p.D689D	NPAS2_ENST00000542504.1_Silent_p.D754D	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	689					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.D689D(1)		cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGTCCTGTGACGCAAGGCAGC	0.607													8	46					0	0	1	0	0	T	101607290	C	T	101607290	2	4	57	1	0	0	0	0	0	0	0	1	10610	535	19	1		1	NPAS2	2	101607290	Silent	SNP	C	TCGA-EJ-5521-01A-01D-1576-08	76101868	101607290	141592083	10	2912											
SLC35F5	80255	broad.mit.edu	37	chr2	114501368	114501368	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacaggcacatacagaggttCactctggaatgtaacagaaa	16	7	9	9	0	2	2	1	0	1	2	2	3	2	3	0	3	2	3	0	3	4	3			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr2:114501368C>T	ENST00000245680.2	-	6	897	c.484G>A	c.(484-486)Gaa>Aaa	p.E162K	SLC35F5_ENST00000409342.1_Missense_Mutation_p.E156K	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	162					transport	integral to membrane		p.E162K(1)		endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						TACAGAGGTTCACTCTGGAAT	0.323													69	196					0	0	1	0	0	T	114501368	C	T	114501368	3	4	57	1	0	0	0	0	1	0	0	0	14647	835	29	2	1127	2	SLC35F5	2	114501368	Missense_Mutation	SNP	C	TCGA-EJ-5521-01A-01D-1576-08	12894078	114501368	128698005	11	2913											
TTN	7273	broad.mit.edu	37	chr2	179580256	179580256	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgctgctgctggcactgcCtgctgcattgtgggcctcac	3	12	13	13	0	1	0	1	0	0	0	1	0	1	0	2	2	6	6	2	2	0	1			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr2:179580256C>T	ENST00000589042.1	-	89	26109	c.25885G>A	c.(25885-25887)Ggc>Agc	p.G8629S	TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G7385S|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.G8312S|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8312	Ig-like 69.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G7385S(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGGCACTGCCTGCTGCATTG	0.478													12	85					0	0	1	0	0	T	179580256	C	T	179580256	3	4	57	1	0	0	0	0	1	0	0	0	16797	681	24	2	78740	2	TTN	2	179580256	Missense_Mutation	SNP	C	TCGA-EJ-5521-01A-01D-1576-08	65078888	179580256	63619117	12	2914											
WDFY1	57590	broad.mit.edu	37	chr2	224749392	224749392	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agccccagcgtcttggtgtcCcacatctgctttatgttcca	6	13	8	14	1	2	0	0	0	2	0	4	0	4	0	4	1	3	2	4	1	1	4			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr2:224749392C>A	ENST00000233055.4	-	9	1008	c.906G>T	c.(904-906)tgG>tgT	p.W302C		NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	302						cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding	p.W302C(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		TCTTGGTGTCCCACATCTGCT	0.463													5	366					0.014758	0.0155347	1	1	0	A	224749392	C	A	224749392	3	1	57	1	0	0	0	0	1	0	0	0	17328	624	22	4	342	4	WDFY1	2	224749392	Missense_Mutation	SNP	C	TCGA-EJ-5521-01A-01D-1576-08	45169136	224749392	18449981	13	2915											
CHRND	1144	broad.mit.edu	37	chr2	233394757	233394757	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccttctacctcatcatccGccgcaagcccctcttctaca	8	10	3	20	2	5	0	2	0	3	0	6	0	6	0	6	0	3	1	6	0	3	4	rs148869069	byFrequency	TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr2:233394757G>A	ENST00000258385.3	+	7	760	c.728G>A	c.(727-729)cGc>cAc	p.R243H	CHRND_ENST00000543200.1_Missense_Mutation_p.R228H|CHRND_ENST00000457943.2_Intron|CHRND_ENST00000536614.1_Silent_p.P206P	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	243					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	p.R243H(2)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		CTCATCATCCGCCGCAAGCCC	0.607													18	57					0	0	1	0	0	A	233394757	G	A	233394757	3	1	57	1	0	0	0	0	1	0	0	0	3416	1087	38	1	754	1	CHRND	2	233394757	Missense_Mutation	SNP	G	TCGA-EJ-5521-01A-01D-1576-08	8645365	233394757	9804616	14	2916											
SCN11A	11280	broad.mit.edu	37	chr3	38991766	38991766	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccttttggatggcaatccGcttctcaattgcagccagag	8	12	9	12	1	1	1	1	0	1	1	4	2	3	2	3	2	2	3	3	2	2	4			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr3:38991766G>A	ENST00000450244.1	-	1	286	c.88C>T	c.(88-90)Cgg>Tgg	p.R30W	SCN11A_ENST00000456224.3_Missense_Mutation_p.R30W|SCN11A_ENST00000444237.2_Missense_Mutation_p.R30W|SCN11A_ENST00000302328.3_Missense_Mutation_p.R30W			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	30					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R30W(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	ATGGCAATCCGCTTCTCAATT	0.517													9	216					0	0	1	0	0	A	38991766	G	A	38991766	3	1	57	1	0	0	0	0	1	0	0	0	13967	1086	38	1	5391	1	SCN11A	3	38991766	Missense_Mutation	SNP	G	TCGA-EJ-5521-01A-01D-1576-08		38991766	159030664	15	2917											
RTP3	83597	broad.mit.edu	37	chr3	46542309	46542309	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctacgcatgccaaaaccacAtctgtaggaacttaagcatt	14	9	6	12	1	1	0	0	0	1	0	1	1	1	1	3	1	5	3	3	1	6	4			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr3:46542309A>G	ENST00000296142.3	+	2	1191	c.619A>G	c.(619-621)Atc>Gtc	p.I207V		NM_031440.1	NP_113628.1	Q9BQQ7	RTP3_HUMAN	receptor (chemosensory) transporter protein 3	207					detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding	p.I207V(1)		endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		CCAAAACCACATCTGTAGGAA	0.433													34	151					0	0	1	0	0	G	46542309	A	G	46542309	3	3	57	1	0	0	0	0	1	0	0	0	13787	217	8	3	625	3	RTP3	3	46542309	Missense_Mutation	SNP	A	TCGA-EJ-5521-01A-01D-1576-08	7550543	46542309	151480121	16	2918											
PPP2R3A	5523	broad.mit.edu	37	chr3	135801246	135801246	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catcagccaggccgatctgtCtcgatacaatgaccagggta	11	8	10	12	2	3	1	1	1	2	0	4	3	3	1	3	2	2	1	3	2	3	2			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr3:135801246C>T	ENST00000264977.3	+	8	3388	c.2771C>T	c.(2770-2772)tCt>tTt	p.S924F	PPP2R3A_ENST00000334546.2_Missense_Mutation_p.S303F|PPP2R3A_ENST00000490467.1_Missense_Mutation_p.S188F|PPP2R3A_ENST00000492624.2_3'UTR	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	924					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity	p.S303F(1)|p.S924F(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GCCGATCTGTCTCGATACAAT	0.348													12	166					0	0	1	0	0	T	135801246	C	T	135801246	3	4	57	1	0	0	0	0	1	0	0	0	12437	913	32	2	2933	2	PPP2R3A	3	135801246	Missense_Mutation	SNP	C	TCGA-EJ-5521-01A-01D-1576-08	89258937	135801246	62221184	17	2919											
HLTF	6596	broad.mit.edu	37	chr3	148760005	148760005	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaaggtaagtatggcaacaAatttgccgcagtctaagcaa	16	8	10	7	1	1	1	0	0	1	1	1	1	1	1	1	2	3	5	1	2	7	4			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr3:148760005A>T	ENST00000310053.5	-	19	2338	c.2145T>A	c.(2143-2145)atT>atA	p.I715I	HLTF_ENST00000392912.2_Silent_p.I715I|HLTF_ENST00000494055.1_Silent_p.I715I|HLTF_ENST00000465259.1_Silent_p.I714I	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	715					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	p.I715I(1)		breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TATGGCAACAAATTTGCCGCA	0.373													42	113					0	0	1	0	0	T	148760005	A	T	148760005	2	4	57	1	0	0	0	0	0	0	0	1	7256	10	1	5		5	HLTF	3	148760005	Silent	SNP	A	TCGA-EJ-5521-01A-01D-1576-08	12958759	148760005	49262425	18	2920											
AADAC	13	broad.mit.edu	37	chr3	151545615	151545615	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaatttgttaattggagttcCctgctccctgagaggtttat	9	16	9	7	0	0	1	0	1	0	1	2	3	2	2	2	2	1	4	2	2	3	6			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr3:151545615C>T	ENST00000232892.6	+	5	981	c.855C>T	c.(853-855)tcC>tcT	p.S285S	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase	285					positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity	p.S285S(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			ATTGGAGTTCCCTGCTCCCTG	0.383													9	200					0	0	1	0	0	T	151545615	C	T	151545615	2	4	57	1	0	0	0	0	0	0	0	1	10	610	22	2		2	AADAC	3	151545615	Silent	SNP	C	TCGA-EJ-5521-01A-01D-1576-08	2785610	151545615	46476815	19	2921											
TBL1XR1	79718	broad.mit.edu	37	chr3	176768285	176768286	+	Frame_Shift_Ins	INS	-	-	A																															cctgatgctaggagatcactINSaacagggttccaggcacaga																										TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr3:176768285_176768286insA	ENST00000430069.1	-	6	799_800	c.540_541insT	c.(538-543)gtgtgafs	p.*181fs	TBL1XR1_ENST00000457928.2_Frame_Shift_Ins_p.*181fs			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	181					canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			AGGAGATCACTAACAGGGTTCC	0.361													15	64	---	---	---	---						A	176768286	-	A	176768285	7	5	57	1	0	1	1	0	0	0	0	0	15700	1522	53	0	1047	0	TBL1XR1	3	176768285	Frame_Shift_Ins	INS	-	TCGA-EJ-5521-01A-01D-1576-08	25222670	176768285	21254145	20	2922											
FAT4	79633	broad.mit.edu	37	chr4	126371608	126371608	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caattcttctacaggtatatTaacactagccaaagctcttg	13	13	5	10	0	3	0	0	0	3	0	3	0	3	0	1	1	4	2	1	1	7	8			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr4:126371608T>A	ENST00000394329.3	+	9	9450	c.9437T>A	c.(9436-9438)tTa>tAa	p.L3146*	FAT4_ENST00000335110.5_Nonsense_Mutation_p.L1444*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3146	Cadherin 30.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L3146*(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACAGGTATATTAACACTAGCC	0.398													4	145					0	0	1	0	0	A	126371608	T	A	126371608	4	1	57	1	0	0	0	0	0	1	0	0	5725	1764	61	5	9471	5	FAT4	4	126371608	Nonsense_Mutation	SNP	T	TCGA-EJ-5521-01A-01D-1576-08		126371608	64782668	21	2923											
FAT4	79633	broad.mit.edu	37	chr4	126371768	126371768	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtattcctctctgatgactaTttccctactgttttggaaaa	9	17	6	9	0	1	2	0	2	1	0	4	3	3	3	2	1	1	2	2	1	5	7			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr4:126371768T>C	ENST00000394329.3	+	9	9610	c.9597T>C	c.(9595-9597)taT>taC	p.Y3199Y	FAT4_ENST00000335110.5_Silent_p.Y1497Y	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3199	Cadherin 31.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.Y3199Y(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTGATGACTATTTCCCTACTG	0.418													9	141					0	0	1	0	0	C	126371768	T	C	126371768	2	2	57	1	0	0	0	0	0	0	0	1	5725	1500	52	3		3	FAT4	4	126371768	Silent	SNP	T	TCGA-EJ-5521-01A-01D-1576-08	160	126371768	64782508	22	2924											
FNIP2	57600	broad.mit.edu	37	chr4	159790453	159790453	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggactgaaggagacattcccCgaaatgaaagctcagatagc	15	6	11	9	1	1	4	1	2	0	2	2	7	2	5	2	2	2	1	2	2	4	2			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr4:159790453C>T	ENST00000264433.6	+	13	2740	c.2665C>T	c.(2665-2667)Cga>Tga	p.R889*	FNIP2_ENST00000379346.3_Nonsense_Mutation_p.R912*	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	889	Interaction with PRKAA1.				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding	p.R215*(1)|p.R889*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		AGACATTCCCCGAAATGAAAG	0.592													3	27					0	0	1	0	0	T	159790453	C	T	159790453	4	4	57	1	0	0	0	0	0	1	0	0	6009	644	23	1	2715	1	FNIP2	4	159790453	Nonsense_Mutation	SNP	C	TCGA-EJ-5521-01A-01D-1576-08	33418685	159790453	31363823	23	2925											
WDR17	116966	broad.mit.edu	37	chr4	177083293	177083293	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggtcgagcagtactagccGcatgttgccatcttgccata	9	11	10	11	2	1	0	0	0	1	0	2	1	1	0	3	1	5	4	3	1	3	5			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr4:177083293G>A	ENST00000393643.2	+	21	3070	c.2818G>A	c.(2818-2820)Gca>Aca	p.A940T	WDR17_ENST00000507824.2_Missense_Mutation_p.A947T|WDR17_ENST00000280190.4_Missense_Mutation_p.A964T|WDR17_ENST00000508596.1_Missense_Mutation_p.A940T	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	964								p.A964T(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		AGTACTAGCCGCATGTTGCCA	0.353													15	62					0	0	1	0	0	A	177083293	G	A	177083293	3	1	57	1	0	0	0	0	1	0	0	0	17337	1087	38	1	2972	1	WDR17	4	177083293	Missense_Mutation	SNP	G	TCGA-EJ-5521-01A-01D-1576-08	17292840	177083293	14070983	24	2926											
FCHO2	115548	broad.mit.edu	37	chr5	72370579	72370579	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tatattctaggtgtgtcacgGggtcccagccctgtcagcct	6	12	11	12	1	3	0	2	0	1	0	4	0	4	0	3	3	2	0	3	3	3	4			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr5:72370579G>T	ENST00000430046.2	+	20	1706	c.1590G>T	c.(1588-1590)cgG>cgT	p.R530R	FCHO2_ENST00000341845.6_Silent_p.R530R|FCHO2_ENST00000512348.1_Silent_p.R497R	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	530								p.R530R(2)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		GTGTGTCACGGGGTCCCAGCC	0.408													3	37					1	1	1	1	0	T	72370579	G	T	72370579	2	4	57	1	0	0	0	0	0	0	0	1	5821	1219	43	4		4	FCHO2	5	72370579	Silent	SNP	G	TCGA-EJ-5521-01A-01D-1576-08		72370579	108544681	25	2927											
FAM71B	153745	broad.mit.edu	37	chr5	156592755	156592755	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacggccagtggcgagtttcAggcgcagctgctgtttctca	6	11	13	11	3	2	0	2	0	1	0	3	1	2	0	1	3	3	5	1	3	1	3			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr5:156592755A>G	ENST00000302938.4	-	1	520	c.425T>C	c.(424-426)cTg>cCg	p.L142P		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	142						nucleus		p.L142P(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGCGAGTTTCAGGCGCAGCTG	0.493													3	109					0	0	1	0	0	G	156592755	A	G	156592755	3	3	57	1	0	0	0	0	1	0	0	0	5643	188	7	3	1400	3	FAM71B	5	156592755	Missense_Mutation	SNP	A	TCGA-EJ-5521-01A-01D-1576-08	84222176	156592755	24322505	26	2928											
NIPAL4	348938	broad.mit.edu	37	chr5	156899410	156899410	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgtcattgccccacgttaCgggcaaaggaatatcctcat	10	12	8	11	2	2	0	2	0	0	0	3	1	3	1	3	2	2	2	3	2	4	4			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr5:156899410C>T	ENST00000311946.7	+	6	959	c.843C>T	c.(841-843)taC>taT	p.Y281Y	ADAM19_ENST00000430702.2_Intron|NIPAL4_ENST00000435489.2_Silent_p.Y262Y	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	281						integral to membrane	receptor activity	p.Y219Y(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						CCCCACGTTACGGGCAAAGGA	0.512											OREG0016979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	302					0	0	1	0	0	T	156899410	C	T	156899410	2	4	57	1	0	0	0	0	0	0	0	1	10474	547	19	1		1	NIPAL4	5	156899410	Silent	SNP	C	TCGA-EJ-5521-01A-01D-1576-08	306655	156899410	24015850	27	2929											
CPEB4	80315	broad.mit.edu	37	chr5	173317315	173317316	+	Frame_Shift_Ins	INS	-	-	G																															caagtttctttcaccagggaINSggggtccctgctgcttcggc																										TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr5:173317315_173317316insG	ENST00000265085.5	+	1	2033_2034	c.579_580insG	c.(577-582)gggggtfs	p.GG193fs	CPEB4_ENST00000519835.1_Frame_Shift_Ins_p.GG193fs|CPEB4_ENST00000520867.1_Frame_Shift_Ins_p.GG193fs|CPEB4_ENST00000334035.5_Frame_Shift_Ins_p.GG193fs	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	193							nucleotide binding|RNA binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TTCACCAGGGAGGGGTCCCTGC	0.505													15	157	---	---	---	---						G	173317316	-	G	173317315	7	5	57	1	0	1	1	0	0	0	0	0	3826	291	11	0	581	0	CPEB4	5	173317315	Frame_Shift_Ins	INS	-	TCGA-EJ-5521-01A-01D-1576-08	16417905	173317315	7597945	28	2930											
OR2V2	285659	broad.mit.edu	37	chr5	180582179	180582179	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttggtctgtaccaatgtGccaaagatggcagccaactt	11	11	10	9	0	1	1	0	0	1	1	1	1	1	1	3	2	4	3	3	2	4	3			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr5:180582179G>A	ENST00000328275.1	+	1	237	c.237G>A	c.(235-237)gtG>gtA	p.V79V		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V79V(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTACCAATGTGCCAAAGATGG	0.517													14	245					0	0	1	0	0	A	180582179	G	A	180582179	2	1	57	1	0	0	0	0	0	0	0	1	11079	1306	46	2		2	OR2V2	5	180582179	Silent	SNP	G	TCGA-EJ-5521-01A-01D-1576-08	7264864	180582179	333081	29	2931											
RXRB	6257	broad.mit.edu	37	chr6	33165658	33165658	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagagtatgtaaggtctttgCggatggtgcgtttgaagaag	11	12	15	3	2	1	3	0	1	1	2	1	4	1	4	0	3	2	3	0	3	5	4			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr6:33165658C>T	ENST00000374680.3	-	4	912	c.701G>A	c.(700-702)cGc>cAc	p.R234H	RXRB_ENST00000374685.4_Missense_Mutation_p.R234H|RXRB_ENST00000544186.1_Missense_Mutation_p.R44H|RXRB_ENST00000413614.2_Missense_Mutation_p.R138H	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta	234					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	p.R234H(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	AAGGTCTTTGCGGATGGTGCG	0.542													3	73					0	0	1	0	0	T	33165658	C	T	33165658	3	4	57	1	0	0	0	0	1	0	0	0	13816	768	27	1	928	1	RXRB	6	33165658	Missense_Mutation	SNP	C	TCGA-EJ-5521-01A-01D-1576-08		33165658	137949409	30	2932											
PPARD	5467	broad.mit.edu	37	chr6	35389697	35389697	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacaagtgccagtactgccGcttccagaagtgcctggcac	10	7	10	14	1	0	1	0	0	0	1	1	1	1	1	4	1	5	3	4	1	4	2			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr6:35389697G>A	ENST00000311565.4	+	6	735	c.386G>A	c.(385-387)cGc>cAc	p.R129H	PPARD_ENST00000337400.2_Missense_Mutation_p.R129H|PPARD_ENST00000418635.2_Intron|PPARD_ENST00000540939.1_Missense_Mutation_p.R26H|PPARD_ENST00000444397.1_Missense_Mutation_p.R129H|PPARD_ENST00000360694.3_Missense_Mutation_p.R129H|PPARD_ENST00000448077.2_Missense_Mutation_p.R90H	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta	129					apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.R129H(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	CAGTACTGCCGCTTCCAGAAG	0.572													9	50					0	0	1	0	0	A	35389697	G	A	35389697	3	1	57	1	0	0	0	0	1	0	0	0	12343	1087	38	1	413	1	PPARD	6	35389697	Missense_Mutation	SNP	G	TCGA-EJ-5521-01A-01D-1576-08	2224039	35389697	135725370	31	2933											
CDC40	51362	broad.mit.edu	37	chr6	110547378	110547378	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaatttttagggatatccCtgtggatttcaagtacatag	13	15	8	5	0	1	0	1	0	0	0	2	2	2	2	1	2	1	1	1	2	7	8			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr6:110547378C>T	ENST00000368932.1	+	14	1450	c.1349C>T	c.(1348-1350)cCt>cTt	p.P450L	CDC40_ENST00000368930.1_Missense_Mutation_p.P450L|CDC40_ENST00000445340.2_Intron|CDC40_ENST00000368933.1_Missense_Mutation_p.P450L|CDC40_ENST00000307731.1_Missense_Mutation_p.P450L			O60508	PRP17_HUMAN	cell division cycle 40	450					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm		p.P450L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		AGGGATATCCCTGTGGATTTC	0.323													25	88					0	0	1	0	0	T	110547378	C	T	110547378	3	4	57	1	0	0	0	0	1	0	0	0	3092	681	24	2	1399	2	CDC40	6	110547378	Missense_Mutation	SNP	C	TCGA-EJ-5521-01A-01D-1576-08	75157681	110547378	60567689	32	2934											
TPST1	8460	broad.mit.edu	37	chr7	65751577	65751577	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggttgggaagataccgccaGatgttttacaagacatggca	12	9	13	7	1	0	3	0	0	0	3	0	4	0	4	2	3	2	3	2	3	4	4	rs142506783		TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr7:65751577G>A	ENST00000304842.5	+	3	1350	c.925G>A	c.(925-927)Gat>Aat	p.D309N	TPST1_ENST00000480281.1_3'UTR	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN	tyrosylprotein sulfotransferase 1	309					inflammatory response|peptidyl-tyrosine sulfation	Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity	p.D309N(1)		NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						GATACCGCCAGATGTTTTACA	0.428													9	106					0	0	1	0	0	A	65751577	G	A	65751577	3	1	57	1	0	0	0	0	1	0	0	0	16488	942	33	2	931	2	TPST1	7	65751577	Missense_Mutation	SNP	G	TCGA-EJ-5521-01A-01D-1576-08		65751577	93387086	33	2935											
PHTF2	57157	broad.mit.edu	37	chr7	77567152	77567152	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcagtggaatgataatgaaCagagtgagtttttaaatttt	15	15	9	2	0	1	4	1	3	0	1	1	5	1	5	0	1	1	1	0	1	5	6			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr7:77567152C>T	ENST00000416283.2	+	11	1488	c.1362C>T	c.(1360-1362)aaC>aaT	p.N454N	PHTF2_ENST00000424760.1_Silent_p.N450N|PHTF2_ENST00000275575.7_Silent_p.N450N|PHTF2_ENST00000454592.1_3'UTR|PHTF2_ENST00000248550.7_Silent_p.N488N|PHTF2_ENST00000422959.2_Silent_p.N454N|PHTF2_ENST00000307305.8_Silent_p.N450N	NM_001127357.1|NM_020432.4	NP_001120829.1|NP_065165.3	Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	488					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						TGATAATGAACAGAGTGAGTT	0.308													6	55					0	0	1	0	0	T	77567152	C	T	77567152	2	4	57	1	0	0	0	0	0	0	0	1	11911	477	17	2		2	PHTF2	7	77567152	Silent	SNP	C	TCGA-EJ-5521-01A-01D-1576-08	11815575	77567152	81571511	34	2936											
MKRN1	23608	broad.mit.edu	37	chr7	140158897	140158897	+	Frame_Shift_Del	DEL	G	G	-																															tctccgtggagatacacacaGttctccccgtatcggcactc																										TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr7:140158897delG	ENST00000255977.2	-	4	905	c.681delC	c.(679-681)aafs	p.N227fs	MKRN1_ENST00000480552.1_Intron|MKRN1_ENST00000443720.2_Frame_Shift_Del_p.N227fs|MKRN1_ENST00000437223.2_Intron|MKRN1_ENST00000474576.1_Frame_Shift_Del_p.N163fs	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1	227							ligase activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					GATACACACAGTTCTCCCCGT	0.522													19	233	---	---	---	---						-	140158897	G	-	140158897	7	5	57	1	0	1	0	1	0	0	0	0	9654	1020	36	0	791	0	MKRN1	7	140158897	Frame_Shift_Del	DEL	G	TCGA-EJ-5521-01A-01D-1576-08	62591745	140158897	18979766	35	2937											
ERMP1	79956	broad.mit.edu	37	chr9	5798848	5798848	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gataccaaggaaaaccacaaAgaggtgcattctcctcacag	16	6	8	11	0	2	1	1	0	1	1	3	3	2	2	3	2	3	1	3	2	5	2			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr9:5798848A>C	ENST00000339450.5	-	12	2317	c.2228T>G	c.(2227-2229)cTt>cGt	p.L743R	ERMP1_ENST00000381506.3_3'UTR|ERMP1_ENST00000543230.1_Missense_Mutation_p.L321R|ERMP1_ENST00000214893.5_5'UTR	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	743					proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity	p.L743R(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		AAAACCACAAAGAGGTGCATT	0.403													5	72					0	0	1	0	0	C	5798848	A	C	5798848	3	2	57	1	0	0	0	0	1	0	0	0	5264	72	3	5	502	5	ERMP1	9	5798848	Missense_Mutation	SNP	A	TCGA-EJ-5521-01A-01D-1576-08		5798848	135414583	36	2938											
PRKACG	5568	broad.mit.edu	37	chr9	71628979	71628979	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcacgctctcctcctgctcGgtgtccttcttggcgggggc	1	13	12	15	3	3	0	1	0	2	0	7	0	5	0	3	4	1	2	3	4	0	3			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr9:71628979G>A	ENST00000377276.2	-	1	60	c.30C>T	c.(28-30)acC>acT	p.T10T		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	10					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity	p.T10T(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						CCTCCTGCTCGGTGTCCTTCT	0.692													5	44					0	0	1	0	0	A	71628979	G	A	71628979	2	1	57	1	0	0	0	0	0	0	0	1	12551	1103	39	1		1	PRKACG	9	71628979	Silent	SNP	G	TCGA-EJ-5521-01A-01D-1576-08	65830131	71628979	69584452	37	2939											
TAL2	6887	broad.mit.edu	37	chr9	108424812	108424812	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcacaaataccagggagcGgtggaggcagcagaatgtca	13	6	13	9	1	2	1	2	0	0	1	2	3	2	3	1	4	3	2	1	4	3	2			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr9:108424812G>C	ENST00000334077.3	+	1	75	c.35G>C	c.(34-36)cGg>cCg	p.R12P		NM_005421.2	NP_005412.1	Q16559	TAL2_HUMAN	T-cell acute lymphocytic leukemia 2	12					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.R12P(1)									ACCAGGGAGCGGTGGAGGCAG	0.502			T	TRB@	T-ALL								13	63					0	0	1	0	0	C	108424812	G	C	108424812	3	2	57	1	0	0	0	0	1	0	0	0	15599	1116	39	4	37	4	TAL2	9	108424812	Missense_Mutation	SNP	G	TCGA-EJ-5521-01A-01D-1576-08	36795833	108424812	32788619	38	2940											
ST6GALNAC6	30815	broad.mit.edu	37	chr9	130653032	130653032	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctcgctggatcacacgcacGaggctgccctggggcttctg	5	8	14	14	3	2	0	1	0	1	0	3	2	2	1	1	4	1	5	1	4	0	1	rs140405426		TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr9:130653032G>A	ENST00000373146.1	-	5	767	c.588C>T	c.(586-588)ctC>ctT	p.L196L	ST6GALNAC6_ENST00000373144.3_Silent_p.L162L|ST6GALNAC6_ENST00000373141.1_Silent_p.L162L|ST6GALNAC6_ENST00000373142.1_Silent_p.L196L|ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000291839.5_Silent_p.L196L|ST6GALNAC6_ENST00000542456.1_Intron			Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	196					protein glycosylation	integral to Golgi membrane|plasma membrane		p.L196L(1)		endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TCACACGCACGAGGCTGCCCT	0.637													9	75					0	0	1	0	0	A	130653032	G	A	130653032	2	1	57	1	0	0	0	0	0	0	0	1	15284	1045	37	1		1	ST6GALNAC6	9	130653032	Silent	SNP	G	TCGA-EJ-5521-01A-01D-1576-08	22228220	130653032	10560399	39	2941											
GOT1	2805	broad.mit.edu	37	chr10	101163490	101163490	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcactcactgtagagccCgaagttcttggagaaggact	12	8	12	9	1	2	3	1	0	1	3	2	6	2	4	1	2	2	3	1	2	3	3			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr10:101163490C>A	ENST00000370508.5	-	6	811	c.784G>T	c.(784-786)Ggg>Tgg	p.G262W	GOT1_ENST00000543866.1_Missense_Mutation_p.G241W	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN	glutamic-oxaloacetic transaminase 1, soluble	262					aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	p.G262W(2)		endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CTGTAGAGCCCGAAGTTCTTG	0.537													3	111					0.115264	0.118219	1	1	0	A	101163490	C	A	101163490	3	1	57	1	0	0	0	0	1	0	0	0	6618	652	23	4	473	4	GOT1	10	101163490	Missense_Mutation	SNP	C	TCGA-EJ-5521-01A-01D-1576-08		101163490	34371257	40	2942											
GPR123	84435	broad.mit.edu	37	chr10	134942117	134942117	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcgcgccgccgccttcaCgctgttcctgttcacggcca	3	9	11	18	6	2	0	2	0	0	0	3	0	3	0	5	1	1	4	5	1	0	3			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr10:134942117C>T	ENST00000607359.1	+	16	2942	c.2942C>T	c.(2941-2943)aCg>aTg	p.T981M	GPR123_ENST00000392607.3_Missense_Mutation_p.T262M|GPR123_ENST00000392606.2_Missense_Mutation_p.T165M			Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	262						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.T262M(1)|p.T981M(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		GCCGCCTTCACGCTGTTCCTG	0.692													5	13					0	0	1	0	0	T	134942117	C	T	134942117	3	4	57	1	0	0	0	0	1	0	0	0	6677	536	19	1	807	1	GPR123	10	134942117	Missense_Mutation	SNP	C	TCGA-EJ-5521-01A-01D-1576-08	33778627	134942117	592630	41	2943											
OR51F1	256892	broad.mit.edu	37	chr11	4791052	4791052	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atggcataaaaacaacagaaAggaatggagatccagacatg	20	5	10	6	0	0	3	0	0	0	3	1	5	1	4	1	3	2	1	1	3	6	1			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr11:4791052A>T	ENST00000380383.1	-	1	116	c.117T>A	c.(115-117)ccT>ccA	p.P39P	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron|OR51F1_ENST00000343430.3_Silent_p.P32P			A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F, member 1	32						integral to membrane	olfactory receptor activity	p.P32P(1)		kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		AACAACAGAAAGGAATGGAGA	0.453													11	41					0	0	1	0	0	T	4791052	A	T	4791052	2	4	57	1	0	0	0	0	0	0	0	1	11144	59	3	5		5	OR51F1	11	4791052	Silent	SNP	A	TCGA-EJ-5521-01A-01D-1576-08		4791052	130215464	42	2944											
SIK3	23387	broad.mit.edu	37	chr11	116729309	116729309	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggagagaaccccactcctgTtgaagggctgtagctgctgg	8	9	14	10	0	0	2	0	1	0	1	1	4	1	3	3	3	3	5	3	3	3	2	rs141671439	by1000genomes	TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr11:116729309T>C	ENST00000375300.1	-	20	2733	c.2728A>G	c.(2728-2730)Aca>Gca	p.T910A	SIK3_ENST00000542607.1_Intron|SIK3_ENST00000292055.4_Missense_Mutation_p.T852A|SIK3_ENST00000446921.2_Intron|SIK3_ENST00000488337.1_Intron|SIK3_ENST00000434315.2_Intron|SIK3_ENST00000375288.1_Intron			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	852	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.T958A(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						CCCACTCCTGTTGAAGGGCTG	0.582													45	133					0	0	1	0	0	C	116729309	T	C	116729309	3	2	57	1	0	0	0	0	1	0	0	0	14374	1725	60	3	1253	3	SIK3	11	116729309	Missense_Mutation	SNP	T	TCGA-EJ-5521-01A-01D-1576-08	111938257	116729309	18277207	43	2945											
SIK3	23387	broad.mit.edu	37	chr11	116767026	116767026	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcacgcgggcccgcagatTctgcagtgtgcttccatcaa	8	8	11	14	3	2	1	1	0	1	1	3	1	3	1	2	1	3	4	2	1	1	2			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr11:116767026T>C	ENST00000375300.1	-	6	813	c.808A>G	c.(808-810)Aat>Gat	p.N270D	SIK3_ENST00000542607.1_Missense_Mutation_p.N212D|SIK3_ENST00000292055.4_Missense_Mutation_p.N212D|SIK3_ENST00000446921.2_Missense_Mutation_p.N270D|SIK3_ENST00000434315.2_Missense_Mutation_p.N111D|SIK3_ENST00000375288.1_5'UTR			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	212						cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.N270D(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						GCCCGCAGATTCTGCAGTGTG	0.507													6	116					0	0	1	0	0	C	116767026	T	C	116767026	3	2	57	1	0	0	0	0	1	0	0	0	14374	1783	62	3	3229	3	SIK3	11	116767026	Missense_Mutation	SNP	T	TCGA-EJ-5521-01A-01D-1576-08	37717	116767026	18239490	44	2946											
PTPN6	5777	broad.mit.edu	37	chr12	7061281	7061281	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggtgtcctgcaggaccgCgacggcaccatcatccacct	8	6	11	16	3	1	0	1	0	0	0	3	2	3	1	5	3	1	2	5	3	0	0			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr12:7061281C>T	ENST00000456013.1	+	3	509	c.267C>T	c.(265-267)cgC>cgT	p.R89R	PTPN6_ENST00000447931.2_Silent_p.R50R|PTPN6_ENST00000318974.9_Silent_p.R89R|PTPN6_ENST00000399448.1_Silent_p.R91R	NM_080549.3	NP_536859.1	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	89	SH2 1.				apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity	p.R89R(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						TGCAGGACCGCGACGGCACCA	0.587													12	132					0	0	1	0	0	T	7061281	C	T	7061281	2	4	57	1	0	0	0	0	0	0	0	1	12844	755	27	1		1	PTPN6	12	7061281	Silent	SNP	C	TCGA-EJ-5521-01A-01D-1576-08		7061281	126790614	45	2947											
SLCO1C1	53919	broad.mit.edu	37	chr12	20890188	20890188	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctggttgtcaaacctccaaCaggagtggaaaaaatattgt	14	10	10	7	0	1	0	1	0	0	0	2	2	2	2	2	3	2	2	2	3	6	3			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr12:20890188C>A	ENST00000381552.1	+	11	1898	c.1530C>A	c.(1528-1530)aaC>aaA	p.N510K	SLCO1C1_ENST00000545102.1_Missense_Mutation_p.N392K|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.N510K|SLCO1C1_ENST00000266509.2_Missense_Mutation_p.N510K|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.N461K			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	510	Kazal-like.				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	p.N510K(1)		NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					AAACCTCCAACAGGAGTGGAA	0.413													14	100					0.00185496	0.00197862	1	1	0	A	20890188	C	A	20890188	3	1	57	1	0	0	0	0	1	0	0	0	14780	477	17	4	1568	4	SLCO1C1	12	20890188	Missense_Mutation	SNP	C	TCGA-EJ-5521-01A-01D-1576-08	13828907	20890188	112961707	46	2948											
NEUROD4	58158	broad.mit.edu	37	chr12	55420976	55420976	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agtacacccccttatgagggCccactcactccacccctgag	9	7	7	18	0	1	2	1	2	0	0	2	2	2	2	6	1	1	1	6	1	2	2			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr12:55420976C>A	ENST00000242994.3	+	2	1131	c.753C>A	c.(751-753)ggC>ggA	p.G251G		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	251					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.G251G(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						CTTATGAGGGCCCACTCACTC	0.502													23	159					9.95505e-16	1.13772e-15	1	1	0	A	55420976	C	A	55420976	2	1	57	1	0	0	0	0	0	0	0	1	10397	726	26	4		4	NEUROD4	12	55420976	Silent	SNP	C	TCGA-EJ-5521-01A-01D-1576-08	34530788	55420976	78430919	47	2949											
NALCN	259232	broad.mit.edu	37	chr13	102047576	102047576	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atttttgctatcatctctgcCgtgtagagaaacatcaataa	13	14	6	8	1	3	1	2	0	1	1	4	2	3	1	1	0	3	2	1	0	5	5	rs145910377	byFrequency	TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr13:102047576C>T	ENST00000251127.6	-	3	330	c.249G>A	c.(247-249)acG>acA	p.T83T	NALCN_ENST00000376200.5_Silent_p.T83T|NALCN_ENST00000376196.3_Silent_p.T83T|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	83						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.T83T(2)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCATCTCTGCCGTGTAGAGAA	0.403													18	95					0	0	1	0	0	T	102047576	C	T	102047576	2	4	57	1	0	0	0	0	0	0	0	1	10196	639	23	1		1	NALCN	13	102047576	Silent	SNP	C	TCGA-EJ-5521-01A-01D-1576-08		102047576	13122302	48	2950											
AHNAK2	113146	broad.mit.edu	37	chr14	105413230	105413230	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtggtcttaagatcccctTgcatggaggggaagctcccg	8	9	13	11	1	1	1	0	0	1	1	3	3	3	3	3	4	2	2	3	4	2	2			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr14:105413230T>G	ENST00000333244.5	-	7	8677	c.8558A>C	c.(8557-8559)cAa>cCa	p.Q2853P	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2853						nucleus		p.Q2853P(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AAGATCCCCTTGCATGGAGGG	0.622													19	230					0	0	1	0	0	G	105413230	T	G	105413230	3	3	57	1	0	0	0	0	1	0	0	0	412	1812	63	5	8833	5	AHNAK2	14	105413230	Missense_Mutation	SNP	T	TCGA-EJ-5521-01A-01D-1576-08		105413230	1936310	49	2951											
CAPN3	825	broad.mit.edu	37	chr15	42681231	42681231	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatcagggatgctcctagTgacatgtacaagatcatgaa	14	9	11	7	0	2	4	2	2	0	2	3	6	3	5	1	1	2	2	1	1	4	2			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr15:42681231T>G	ENST00000397163.3	+	5	957	c.738T>G	c.(736-738)agT>agG	p.S246R	RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000349748.3_Missense_Mutation_p.S246R|CAPN3_ENST00000318023.7_Missense_Mutation_p.S246R|CAPN3_ENST00000357568.3_Missense_Mutation_p.S246R|CAPN3_ENST00000356316.3_Missense_Mutation_p.S159R	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	246	Calpain catalytic.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity	p.S246R(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		ATGCTCCTAGTGACATGTACA	0.542													17	194					0	0	1	0	0	G	42681231	T	G	42681231	3	3	57	1	0	0	0	0	1	0	0	0	2646	1693	59	5	808	5	CAPN3	15	42681231	Missense_Mutation	SNP	T	TCGA-EJ-5521-01A-01D-1576-08		42681231	59850161	50	2952											
SLC12A1	6557	broad.mit.edu	37	chr15	48580269	48580269	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttaacacaagccagtcgatgCatgtgggagagttcaaccag	13	8	11	9	1	1	1	1	0	0	1	2	3	1	1	2	1	4	2	2	1	3	2			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr15:48580269C>T	ENST00000396577.3	+	22	2874	c.2659C>T	c.(2659-2661)Cat>Tat	p.H887Y	SLC12A1_ENST00000558405.1_Missense_Mutation_p.H887Y|SLC12A1_ENST00000380993.3_Missense_Mutation_p.H887Y	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	887					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity	p.H887Y(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	CCAGTCGATGCATGTGGGAGA	0.403													7	25					0	0	1	0	0	T	48580269	C	T	48580269	3	4	57	1	0	0	0	0	1	0	0	0	14437	710	25	2	2841	2	SLC12A1	15	48580269	Missense_Mutation	SNP	C	TCGA-EJ-5521-01A-01D-1576-08	5899038	48580269	53951123	51	2953											
DPP8	54878	broad.mit.edu	37	chr15	65790302	65790302	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atccagtctggatcagcaggGcataattttggatccatccg	10	11	10	10	1	2	0	1	0	1	0	5	2	5	2	3	3	1	2	3	3	1	3			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr15:65790302G>A	ENST00000341861.5	-	5	2243	c.663C>T	c.(661-663)tgC>tgT	p.C221C	DPP8_ENST00000358939.4_Silent_p.C205C|DPP8_ENST00000559233.1_Silent_p.C221C|DPP8_ENST00000339244.5_Silent_p.C221C|DPP8_ENST00000321118.7_Silent_p.C221C|DPP8_ENST00000321147.6_Silent_p.C221C|DPP8_ENST00000300141.6_Silent_p.C205C	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	221					immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity	p.C205C(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GATCAGCAGGGCATAATTTTG	0.383													4	154					0	0	1	0	0	A	65790302	G	A	65790302	2	1	57	1	0	0	0	0	0	0	0	1	4758	1195	42	2		2	DPP8	15	65790302	Silent	SNP	G	TCGA-EJ-5521-01A-01D-1576-08	17210033	65790302	36741090	52	2954											
KIF23	9493	broad.mit.edu	37	chr15	69708370	69708370	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaaacctaccgtgaaaaaaGggtcccaaacgaaccttaaa	18	5	8	10	2	0	1	0	1	0	0	1	3	1	2	4	2	4	0	4	2	9	2			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr15:69708370G>A	ENST00000260363.4	+	2	166	c.49G>A	c.(49-51)Ggg>Agg	p.G17R	KIF23_ENST00000395392.2_Missense_Mutation_p.G17R|KIF23_ENST00000352331.4_Missense_Mutation_p.G17R|KIF23_ENST00000559279.1_Missense_Mutation_p.G17R	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	17	Kinesin-motor.				blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding	p.G17R(2)		central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						CGTGAAAAAAGGGTCCCAAAC	0.378													3	42					0	0	1	0	0	A	69708370	G	A	69708370	3	1	57	1	0	0	0	0	1	0	0	0	8333	1000	35	2	55	2	KIF23	15	69708370	Missense_Mutation	SNP	G	TCGA-EJ-5521-01A-01D-1576-08	3918068	69708370	32823022	53	2955											
GP2	2813	broad.mit.edu	37	chr16	20335248	20335248	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagaaacagcagttgccaCtccaatgggcacaggcagtg	12	6	11	12	0	0	1	0	0	0	1	2	1	2	1	3	2	3	4	3	2	2	1			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr16:20335248C>A	ENST00000302555.5	-	3	574	c.425G>T	c.(424-426)aGt>aTt	p.S142I	GP2_ENST00000381360.5_Intron|GP2_ENST00000381362.4_Missense_Mutation_p.S142I|GP2_ENST00000341642.5_Intron			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	142						anchored to membrane|extracellular region|plasma membrane		p.S142I(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GCAGTTGCCACTCCAATGGGC	0.592													3	83					1	1	1	1	0	A	20335248	C	A	20335248	3	1	57	1	0	0	0	0	1	0	0	0	6622	565	20	4	1228	4	GP2	16	20335248	Missense_Mutation	SNP	C	TCGA-EJ-5521-01A-01D-1576-08		20335248	70019505	54	2956											
CDH16	1014	broad.mit.edu	37	chr16	66947138	66947138	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtgcagctccagaggggccGcatagtcctcgccatgggaa	8	6	14	13	3	0	1	0	0	0	1	3	2	2	2	4	3	2	3	4	3	2	1			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr16:66947138G>A	ENST00000299752.4	-	9	1143	c.950C>T	c.(949-951)gCg>gTg	p.A317V	CDH16_ENST00000568632.1_Missense_Mutation_p.A220V|CDH16_ENST00000565796.1_Missense_Mutation_p.A317V|CDH16_ENST00000570262.1_Missense_Mutation_p.A237V|CDH16_ENST00000394055.3_Missense_Mutation_p.A317V	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	317	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A317V(1)		endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		CAGAGGGGCCGCATAGTCCTC	0.622													5	173					0	0	1	0	0	A	66947138	G	A	66947138	3	1	57	1	0	0	0	0	1	0	0	0	3123	1087	38	1	1579	1	CDH16	16	66947138	Missense_Mutation	SNP	G	TCGA-EJ-5521-01A-01D-1576-08	46611890	66947138	23407615	55	2957											
TP53	7157	broad.mit.edu	37	chr17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgggcctccggttcatgcCgcccatgcaggaactgttac	7	9	12	13	2	1	0	1	0	0	0	2	2	2	1	4	3	4	3	4	3	2	2	rs28934575		TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr17:7577548C>T	ENST00000420246.2	-	7	865	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000269305.4_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000359597.4_Missense_Mutation_p.G245S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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)		CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	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)			12	49					0	0	1	0	0	T	7577548	C	T	7577548	3	4	57	1	0	0	0	0	1	0	0	0	16442	652	23	1	557	1	TP53	17	7577548	Missense_Mutation	SNP	C	TCGA-EJ-5521-01A-01D-1576-08		7577548	73617662	56	2958											
TOM1L1	10040	broad.mit.edu	37	chr17	53007460	53007460	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tataaaacaggtcgggagatGcaggagaggatcatggacct	14	7	14	6	1	1	2	1	0	0	2	2	6	1	4	1	5	2	1	1	5	3	2			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr17:53007460G>T	ENST00000575882.1	+	8	1100	c.747G>T	c.(745-747)atG>atT	p.M249I	TOM1L1_ENST00000348161.4_Missense_Mutation_p.M172I|TOM1L1_ENST00000540336.1_Missense_Mutation_p.M137I|TOM1L1_ENST00000445275.2_Missense_Mutation_p.M249I|TOM1L1_ENST00000575333.1_Missense_Mutation_p.M249I|TOM1L1_ENST00000536554.1_Missense_Mutation_p.M172I|TOM1L1_ENST00000572158.1_Missense_Mutation_p.M242I|TOM1L1_ENST00000570371.1_Missense_Mutation_p.M249I	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	249	GAT.				intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	cytosol|endosome membrane|Golgi stack|lysosome	SH3 domain binding|ubiquitin binding	p.M249I(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						GTCGGGAGATGCAGGAGAGGA	0.418													29	111					7.26314e-15	8.18382e-15	1	1	0	T	53007460	G	T	53007460	3	4	57	1	0	0	0	0	1	0	0	0	16412	1319	46	4	777	4	TOM1L1	17	53007460	Missense_Mutation	SNP	G	TCGA-EJ-5521-01A-01D-1576-08	45429912	53007460	28187750	57	2959											
EPB41L3	23136	broad.mit.edu	37	chr18	5397388	5397388	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggtgcacggtgggttccGtctctattccactggactcc	4	12	13	12	2	1	0	0	0	1	0	5	1	4	1	3	5	1	2	3	5	1	3	rs143141379		TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr18:5397388G>A	ENST00000341928.2	-	18	2850	c.2510C>T	c.(2509-2511)aCg>aTg	p.T837M	EPB41L3_ENST00000342933.3_Missense_Mutation_p.T837M|EPB41L3_ENST00000540638.2_Missense_Mutation_p.T615M|EPB41L3_ENST00000544123.1_Missense_Mutation_p.T668M|EPB41L3_ENST00000542146.1_Missense_Mutation_p.T142M|EPB41L3_ENST00000400111.3_Missense_Mutation_p.T615M|EPB41L3_ENST00000427684.2_Missense_Mutation_p.T134M|EPB41L3_ENST00000542652.2_5'UTR	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	837	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	p.T837M(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GGTGGGTTCCGTCTCTATTCC	0.542													5	62					0	0	1	0	0	A	5397388	G	A	5397388	3	1	57	1	0	0	0	0	1	0	0	0	5182	1145	40	1	773	1	EPB41L3	18	5397388	Missense_Mutation	SNP	G	TCGA-EJ-5521-01A-01D-1576-08		5397388	72679860	58	2960											
DSEL	92126	broad.mit.edu	37	chr18	65179121	65179121	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcccactgcggatatctgAcaccttccattcacaagcat	11	10	6	14	1	2	1	1	1	1	0	3	2	3	2	3	1	3	1	3	1	2	3			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr18:65179121A>G	ENST00000310045.7	-	2	4228	c.2755T>C	c.(2755-2757)Tca>Cca	p.S919P	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	909						integral to membrane	isomerase activity|sulfotransferase activity	p.S919P(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				CGGATATCTGACACCTTCCAT	0.423													5	138					0	0	1	0	0	G	65179121	A	G	65179121	3	3	57	1	0	0	0	0	1	0	0	0	4801	275	10	3	917	3	DSEL	18	65179121	Missense_Mutation	SNP	A	TCGA-EJ-5521-01A-01D-1576-08	59781733	65179121	12898127	59	2961											
PRR22	163154	broad.mit.edu	37	chr19	5784048	5784048	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtcgaagaagcacccgcaTggggccatctggaaacctgt	10	6	14	11	2	1	1	0	0	1	1	2	3	1	2	3	4	2	2	3	4	3	0			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr19:5784048T>C	ENST00000419421.2	-	3	314	c.210A>G	c.(208-210)ccA>ccG	p.P70P	CTB-54O9.9_ENST00000586012.1_3'UTR	NM_001134316.1	NP_001127788.1	Q8IZ63	PRR22_HUMAN	proline rich 22	68								p.P68P(1)		endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						AGCACCCGCATGGGGCCATCT	0.677													3	45					0	0	1	0	0	C	5784048	T	C	5784048	2	2	57	1	0	0	0	0	0	0	0	1	12645	1451	51	3		3	PRR22	19	5784048	Silent	SNP	T	TCGA-EJ-5521-01A-01D-1576-08		5784048	53344935	60	2962											
ICAM1	3383	broad.mit.edu	37	chr19	10394818	10394818	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcccagtctcggaggcccaGgtccacctggcactggggga	6	7	14	14	1	1	0	0	0	1	0	4	2	3	2	4	6	0	1	4	6	0	1			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr19:10394818G>A	ENST00000264832.3	+	4	1072	c.747G>A	c.(745-747)caG>caA	p.Q249Q	CTD-2369P2.5_ENST00000592893.1_RNA|ICAM1_ENST00000423829.2_Silent_p.Q27Q	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	249	Ig-like C2-type 3.				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity	p.Q249Q(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	CGGAGGCCCAGGTCCACCTGG	0.647													4	55					0	0	1	0	0	A	10394818	G	A	10394818	2	1	57	1	0	0	0	0	0	0	0	1	7523	991	35	2		2	ICAM1	19	10394818	Silent	SNP	G	TCGA-EJ-5521-01A-01D-1576-08	4610770	10394818	48734165	61	2963											
S1PR5	53637	broad.mit.edu	37	chr19	10625418	10625418	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccgacagtaggatgttggcGgcgtaggcggcgcctgccag	6	6	17	12	5	0	0	0	0	0	0	0	2	0	1	3	5	1	3	3	5	2	3			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr19:10625418G>A	ENST00000439028.3	-	2	395	c.270C>T	c.(268-270)gcC>gcT	p.A90A	S1PR5_ENST00000333430.4_Silent_p.A90A	NM_001166215.1	NP_001159687.1	Q9H228	S1PR5_HUMAN	sphingosine-1-phosphate receptor 5	90						integral to membrane|plasma membrane	lysosphingolipid and lysophosphatidic acid receptor activity	p.A90A(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	12						GGATGTTGGCGGCGTAGGCGG	0.672													5	4					0	0	1	0	0	A	10625418	G	A	10625418	2	1	57	1	0	0	0	0	0	0	0	1	13849	1103	39	1		1	S1PR5	19	10625418	Silent	SNP	G	TCGA-EJ-5521-01A-01D-1576-08	230600	10625418	48503565	62	2964											
TSHZ3	57616	broad.mit.edu	37	chr19	31770341	31770341	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaggaagttgttgtacacggCcttcatctgctccaggctat	8	12	11	10	1	2	0	1	0	1	0	3	2	3	1	2	3	2	5	2	3	3	5			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr19:31770341C>T	ENST00000240587.4	-	2	685	c.358G>A	c.(358-360)Gcc>Acc	p.A120T		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	120					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A120T(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TTGTACACGGCCTTCATCTGC	0.557													4	75					0	0	1	0	0	T	31770341	C	T	31770341	3	4	57	1	0	0	0	0	1	0	0	0	16686	739	26	2	2891	2	TSHZ3	19	31770341	Missense_Mutation	SNP	C	TCGA-EJ-5521-01A-01D-1576-08	21144923	31770341	27358642	63	2965											
FERMT1	55612	broad.mit.edu	37	chr20	6077614	6077614	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaaagcgccgcttctatttCatcaacctcggactcgcctg	9	10	8	14	4	3	1	2	0	1	1	5	2	3	2	3	1	2	1	3	1	3	3			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr20:6077614C>T	ENST00000217289.4	-	8	1812	c.1024G>A	c.(1024-1026)Gaa>Aaa	p.E342K	FERMT1_ENST00000536936.1_Missense_Mutation_p.E85K	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	342	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding	p.E342K(2)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						GCTTCTATTTCATCAACCTCG	0.418													8	393					0	0	1	0	0	T	6077614	C	T	6077614	3	4	57	1	0	0	0	0	1	0	0	0	5850	835	29	2	1041	2	FERMT1	20	6077614	Missense_Mutation	SNP	C	TCGA-EJ-5521-01A-01D-1576-08		6077614	56947906	64	2966											
RRBP1	6238	broad.mit.edu	37	chr20	17622555	17622555	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcgccacagggtcaccctTctgagtggcctagaaatacc	11	8	9	13	1	2	2	1	1	1	1	3	2	2	2	4	2	1	0	4	2	4	3			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr20:17622555T>A	ENST00000377813.1	-	5	2374	c.2071A>T	c.(2071-2073)Aag>Tag	p.K691*	RRBP1_ENST00000455029.2_Nonsense_Mutation_p.K32*|RRBP1_ENST00000246043.4_Nonsense_Mutation_p.K691*|RRBP1_ENST00000360807.4_Nonsense_Mutation_p.K258*|RRBP1_ENST00000377807.2_Nonsense_Mutation_p.K258*			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	691					protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity	p.K258*(1)|p.K691*(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						GGGTCACCCTTCTGAGTGGCC	0.557													10	192					0	0	1	0	0	A	17622555	T	A	17622555	4	1	57	1	0	0	0	0	0	1	0	0	13730	1792	62	5	2245	5	RRBP1	20	17622555	Nonsense_Mutation	SNP	T	TCGA-EJ-5521-01A-01D-1576-08	11544941	17622555	45402965	65	2967											
DYNLRB1	83658	broad.mit.edu	37	chr20	33122618	33122618	+	Frame_Shift_Del	DEL	C	C	-																															aggtaaggggtcttctacctCcccatgtaggaacagacctc																										TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr20:33122618delC	ENST00000417166.2	+	3	299	c.266delC	c.(265-267)tcfs	p.S89fs	DYNLRB1_ENST00000374846.3_Intron|DYNLRB1_ENST00000480759.1_Intron|DYNLRB1_ENST00000357156.2_Intron			Q9NP97	DLRB1_HUMAN	dynein, light chain, roadblock-type 1	0					microtubule-based movement|transport|visual behavior	centrosome|cytoplasmic dynein complex|microtubule	microtubule motor activity			endometrium(1)|large_intestine(1)|lung(1)	3						TCTTCTACCTCCCCATGTAGG	0.532													7	51	---	---	---	---						-	33122618	C	-	33122618	7	5	57	1	0	1	0	1	0	0	0	0	4876	870	30	0		0	DYNLRB1	20	33122618	Frame_Shift_Del	DEL	C	TCGA-EJ-5521-01A-01D-1576-08	15500063	33122618	29902902	66	2968											
NCAM2	4685	broad.mit.edu	37	chr21	22658654	22658655	+	Frame_Shift_Ins	INS	-	-	T																															aggagaagatgcagaagtggINStttgccgagttagcagttca																										TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr21:22658654_22658655insT	ENST00000400546.1	+	4	652_653	c.403_404insT	c.(403-405)ttgfs	p.L135fs	NCAM2_ENST00000486367.1_3'UTR|NCAM2_ENST00000535285.1_Frame_Shift_Ins_p.L160fs|NCAM2_ENST00000284894.7_Intron	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	135	Ig-like C2-type 2.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TGCAGAAGTGGTTTGCCGAGTT	0.401													25	87	---	---	---	---						T	22658655	-	T	22658654	7	5	57	1	0	1	1	0	0	0	0	0	10250	1261	44	0	417	0	NCAM2	21	22658654	Frame_Shift_Ins	INS	-	TCGA-EJ-5521-01A-01D-1576-08		22658654	25471241	67	2969											
DSCAM	1826	broad.mit.edu	37	chr21	41465774	41465774	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aattctgtaggaaaacgagtCgggagaggcctcaaactcgc	13	7	12	9	3	2	1	1	0	1	1	4	4	2	2	1	3	2	1	1	3	5	2			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr21:41465774C>T	ENST00000400454.1	-	21	4201	c.3724G>A	c.(3724-3726)Gac>Aac	p.D1242N		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1242	Fibronectin type-III 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.D1242N(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GAAAACGAGTCGGGAGAGGCC	0.478													22	33					0	0	1	0	0	T	41465774	C	T	41465774	3	4	57	1	0	0	0	0	1	0	0	0	4794	884	31	1	2366	1	DSCAM	21	41465774	Missense_Mutation	SNP	C	TCGA-EJ-5521-01A-01D-1576-08	18807120	41465774	6664121	68	2970											
LIMK2	3985	broad.mit.edu	37	chr22	31663865	31663865	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gacagagtacattgagggggGcacactgaaggactttctgc	11	8	14	8	0	1	3	0	2	1	1	1	5	1	4	0	4	2	2	0	4	2	3			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr22:31663865G>C	ENST00000331728.4	+	10	1346	c.1232G>C	c.(1231-1233)gGc>gCc	p.G411A	LIMK2_ENST00000340552.4_Missense_Mutation_p.G390A|LIMK2_ENST00000444929.2_Missense_Mutation_p.G165A|LIMK2_ENST00000333611.4_Missense_Mutation_p.G390A|LIMK2_ENST00000406516.1_Missense_Mutation_p.G333A	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	411	Protein kinase.					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding	p.G411A(2)		endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						ATTGAGGGGGGCACACTGAAG	0.527													6	113					0	0	1	0	0	C	31663865	G	C	31663865	3	2	57	1	0	0	0	0	1	0	0	0	8842	1203	42	4	1327	4	LIMK2	22	31663865	Missense_Mutation	SNP	G	TCGA-EJ-5521-01A-01D-1576-08		31663865	19640701	69	2971											
YWHAH	7533	broad.mit.edu	37	chr22	32346379	32346379	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtgctcctcccgcccctactCctggctgcagtggcattccc	3	10	9	19	1	0	0	0	0	0	0	4	0	4	0	6	2	3	4	6	2	1	2			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chr22:32346379C>T	ENST00000397492.1	+	2	384	c.172C>T	c.(172-174)Cct>Tct	p.P58S	YWHAH_ENST00000471374.1_Intron|YWHAH_ENST00000248975.5_Intron			Q04917	1433F_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide	0					glucocorticoid catabolic process|glucocorticoid receptor signaling pathway|intracellular protein transport|negative regulation of dendrite morphogenesis|positive regulation of transcription, DNA-dependent|regulation of synaptic plasticity	cytoplasm	enzyme binding|glucocorticoid receptor binding|insulin-like growth factor receptor binding|protein domain specific binding			breast(1)|central_nervous_system(1)|large_intestine(1)|upper_aerodigestive_tract(1)	4						CGCCCCTACTCCTGGCTGCAG	0.522													25	90					0	0	1	0	0	T	32346379	C	T	32346379	3	4	57	1	0	0	0	0	1	0	0	0	17564	870	30	2		2	YWHAH	22	32346379	Missense_Mutation	SNP	C	TCGA-EJ-5521-01A-01D-1576-08	682514	32346379	18958187	70	2972											
UBQLN2	29978	broad.mit.edu	37	chrX	56591153	56591153	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagagccgatgctgaatgccGcacaagagcagtttgggggt	11	7	15	8	2	0	3	0	1	0	2	0	4	0	3	2	2	4	4	2	2	3	1			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chrX:56591153G>A	ENST00000338222.5	+	1	1128	c.847G>A	c.(847-849)Gca>Aca	p.A283T		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	283						cytoplasm|nucleus|plasma membrane	binding	p.A283T(2)		breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						GCTGAATGCCGCACAAGAGCA	0.517													3	39					0	0	1	0	0	A	56591153	G	A	56591153	3	1	57	1	0	0	0	0	1	0	0	0	16958	1087	38	1	849	1	UBQLN2	23	56591153	Missense_Mutation	SNP	G	TCGA-EJ-5521-01A-01D-1576-08		56591153	98679407	71	2973											
CLIC2	1193	broad.mit.edu	37	chrX	154528413	154528413	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagaggatcatgaaaaggcGttggcaaaagggacagtttc	14	7	13	7	1	1	2	1	1	0	1	2	4	1	4	1	4	0	3	1	4	4	2			TCGA-EJ-5521-01A-01D-1576-08	TCGA-EJ-5521-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71f9ca33-4f59-47fa-98b2-6074451c14a4	6d784e6d-e22b-41f0-9ea2-154445f6fe64	g.chrX:154528413G>C	ENST00000369449.2	-	2	321	c.103C>G	c.(103-105)Cgc>Ggc	p.R35G	CLIC2_ENST00000465553.1_5'UTR	NM_001289.4	NP_001280.3	O15247	CLIC2_HUMAN	chloride intracellular channel 2	35	N-terminal.|Required for insertion into the membrane (By similarity).				signal transduction	chloride channel complex|cytoplasm|nucleus	voltage-gated chloride channel activity	p.R35G(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	18	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ATGAAAAGGCGTTGGCAAAAG	0.363													18	87					0	0	1	0	0	C	154528413	G	C	154528413	3	2	57	1	0	0	0	0	1	0	0	0	3549	1145	40	4	660	4	CLIC2	23	154528413	Missense_Mutation	SNP	G	TCGA-EJ-5521-01A-01D-1576-08	97937260	154528413	742147	72	2974											
CCNL2	81669	broad.mit.edu	37	chr1	1333666	1333666	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acattgatgacgtcccgtatGcgtcttggggcctcttctat	6	14	10	11	3	3	2	0	2	3	0	4	2	4	2	2	2	1	1	2	2	2	5			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr1:1333666G>A	ENST00000400809.3	-	3	425	c.420C>T	c.(418-420)cgC>cgT	p.R140R	CCNL2_ENST00000408918.4_Silent_p.R140R|CCNL2_ENST00000408952.5_5'UTR	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	140	Cyclin-like 1.				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding	p.R140R(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		CGTCCCGTATGCGTCTTGGGG	0.502													51	195					0	0	0.870114	0	0	A	1333666	G	A	1333666	2	1	58	1	0	0	0	0	0	0	0	1	2954	1306	46	2		2	CCNL2	1	1333666	Silent	SNP	G	TCGA-EJ-5522-01A-01D-1576-08		1333666	247916955	1	2975											
NBPF1	55672	broad.mit.edu	37	chr1	16918514	16918514	+	Translation_Start_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caagggccagctgataccacCatgctgacgtttgtggcaga	10	8	12	11	1	0	3	0	2	0	1	0	3	0	3	3	2	3	4	3	2	2	2			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr1:16918514C>A	ENST00000430580.2	-	7	890	c.3G>T	c.(1-3)atG>atT	p.M1I		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	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)		CTGATACCACCATGCTGACGT	0.483													40	852					3.76114e-14	4.62306e-14	0.796494	1	0	A	16918514	C	A	16918514	1	1	58	1	0	0	0	0	0	0	0	0	10240	594	21	4		4	NBPF1	1	16918514	Translation_Start_Site	SNP	C	TCGA-EJ-5522-01A-01D-1576-08	15584848	16918514	232332107	2	2976											
COPA	1314	broad.mit.edu	37	chr1	160276964	160276964	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttaactcaccgaatgcatccGatctaggacagcaaaccgat	14	8	7	12	3	2	0	1	0	1	0	3	4	3	1	3	1	4	2	3	1	4	2			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr1:160276964G>A	ENST00000241704.7	-	14	1520	c.1291C>T	c.(1291-1293)Cgg>Tgg	p.R431W	COPA_ENST00000368069.3_Missense_Mutation_p.R431W	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	431					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity	p.R431W(1)		central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GAATGCATCCGATCTAGGACA	0.478													7	297					0	0	0.307466	0	0	A	160276964	G	A	160276964	3	1	58	1	0	0	0	0	1	0	0	0	3750	1057	37	1	2490	1	COPA	1	160276964	Missense_Mutation	SNP	G	TCGA-EJ-5522-01A-01D-1576-08	143358450	160276964	88973657	3	2977											
FIGN	55137	broad.mit.edu	37	chr2	164467945	164467945	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagggctgaactgactccagCtttgctggcagtgataacat	10	10	12	9	0	0	3	0	3	0	0	1	4	1	3	1	2	4	4	1	2	2	2			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr2:164467945C>T	ENST00000333129.3	-	3	711	c.397G>A	c.(397-399)Gct>Act	p.A133T	FIGN_ENST00000482917.1_5'UTR|FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	133						nuclear matrix	ATP binding|nucleoside-triphosphatase activity	p.A133T(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CTGACTCCAGCTTTGCTGGCA	0.498													80	230					0	0	0.870114	0	0	T	164467945	C	T	164467945	3	4	58	1	0	0	0	0	1	0	0	0	5924	797	28	2	1886	2	FIGN	2	164467945	Missense_Mutation	SNP	C	TCGA-EJ-5522-01A-01D-1576-08		164467945	78731428	4	2978											
ALS2	57679	broad.mit.edu	37	chr2	202626025	202626025	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggctgcactggttgcatCgttctgggactggcttcaga	5	12	14	10	1	2	1	1	0	1	1	3	2	2	2	0	4	2	7	0	4	0	3			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr2:202626025C>A	ENST00000264276.6	-	4	1064	c.692G>T	c.(691-693)cGa>cTa	p.R231L	ALS2_ENST00000467448.1_Missense_Mutation_p.R231L	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	231					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity	p.R231L(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						CTGGTTGCATCGTTCTGGGAC	0.498													5	121					0.184627	0.198055	0.184627	1	0	A	202626025	C	A	202626025	3	1	58	1	0	0	0	0	1	0	0	0	546	884	31	4	4483	4	ALS2	2	202626025	Missense_Mutation	SNP	C	TCGA-EJ-5522-01A-01D-1576-08	38158080	202626025	40573348	5	2979											
ANO7	50636	broad.mit.edu	37	chr2	242138766	242138766	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggaacaccacagtgcactaCgccctcctcagcgcctcctg	8	6	9	18	2	1	0	1	0	0	0	3	1	3	1	5	1	4	1	5	1	2	1			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr2:242138766C>T	ENST00000274979.8	+	5	610	c.507C>T	c.(505-507)taC>taT	p.Y169Y	ANO7_ENST00000402430.3_Silent_p.Y168Y	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	169						cell junction|chloride channel complex|cytosol	chloride channel activity	p.Y169Y(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						CAGTGCACTACGCCCTCCTCA	0.637													17	74					0	0	0.500413	0	0	T	242138766	C	T	242138766	2	4	58	1	0	0	0	0	0	0	0	1	696	547	19	1		1	ANO7	2	242138766	Silent	SNP	C	TCGA-EJ-5522-01A-01D-1576-08	39512741	242138766	1060607	6	2980											
ZNF197	10168	broad.mit.edu	37	chr3	44672664	44672664	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atagcagctgaaatttgcccGcatcctcctactgacctagt	10	11	7	13	1	0	2	0	2	0	0	2	2	2	2	4	0	4	3	4	0	4	4	rs150727145	byFrequency	TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr3:44672664G>A	ENST00000396058.1	+	2	668	c.501G>A	c.(499-501)ccG>ccA	p.P167P	ZNF197_ENST00000383745.2_Silent_p.P167P|ZNF197_ENST00000383744.4_Silent_p.P167P|RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000344387.4_Silent_p.P167P			O14709	ZN197_HUMAN	zinc finger protein 197	167					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P167P(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		AAATTTGCCCGCATCCTCCTA	0.527													4	179					0	0	0.150653	0	0	A	44672664	G	A	44672664	2	1	58	1	0	0	0	0	0	0	0	1	17817	1074	38	1		1	ZNF197	3	44672664	Silent	SNP	G	TCGA-EJ-5522-01A-01D-1576-08		44672664	153349766	7	2981											
LRRC2	79442	broad.mit.edu	37	chr3	46592966	46592966	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaaacacgtacttctccaagGcgctcttctcaagcctttcc	10	11	5	15	2	3	0	1	0	3	0	6	0	4	0	3	1	3	2	3	1	5	4			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr3:46592966G>A	ENST00000395905.3	-	2	508	c.116C>T	c.(115-117)gCc>gTc	p.A39V	LRRC2_ENST00000496388.1_Intron|LRRC2_ENST00000296144.3_Missense_Mutation_p.A39V	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	39								p.A39V(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		CTTCTCCAAGGCGCTCTTCTC	0.468													4	164					0	0	0.150653	0	0	A	46592966	G	A	46592966	3	1	58	1	0	0	0	0	1	0	0	0	9021	1203	42	2	1031	2	LRRC2	3	46592966	Missense_Mutation	SNP	G	TCGA-EJ-5522-01A-01D-1576-08	1920302	46592966	151429464	8	2982											
DOCK3	1795	broad.mit.edu	37	chr3	51413195	51413195	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcagccgccgaatttccagcGagccctgttccagcaagtgg	8	8	11	14	3	1	0	1	0	0	0	3	2	3	0	5	1	4	2	5	1	2	2			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr3:51413195G>A	ENST00000266037.9	+	51	5452	c.5429G>A	c.(5428-5430)cGa>cAa	p.R1810Q		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1810						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	p.R1810Q(2)|p.R1799Q(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AATTTCCAGCGAGCCCTGTTC	0.527													6	220					0	0	0.217242	0	0	A	51413195	G	A	51413195	3	1	58	1	0	0	0	0	1	0	0	0	4715	1058	37	1	5631	1	DOCK3	3	51413195	Missense_Mutation	SNP	G	TCGA-EJ-5522-01A-01D-1576-08	4820229	51413195	146609235	9	2983											
EBLN2	55096	broad.mit.edu	37	chr3	73111759	73111759	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agatatgcctaactttattgCccttgagaagtcatcagttc	11	14	7	9	0	2	2	2	1	0	2	3	3	2	2	2	0	3	1	2	0	4	7			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr3:73111759C>T	ENST00000533473.1	+	1	950	c.527C>T	c.(526-528)gCc>gTc	p.A176V	PPP4R2_ENST00000356692.5_Intron|PPP4R2_ENST00000295862.9_Intron|PPP4R2_ENST00000394284.3_Intron	NM_018029.3	NP_060499.3	Q6P2I7	EBLN2_HUMAN	endogenous Bornavirus-like nucleoprotein 2	176				A -> G (in Ref. 1; AAK83528).			protein binding	p.A176V(1)		endometrium(1)|large_intestine(3)|lung(1)|prostate(1)	6						AACTTTATTGCCCTTGAGAAG	0.463													4	131					0	0	0.184627	0	0	T	73111759	C	T	73111759	3	4	58	1	0	0	0	0	1	0	0	0	4910	739	26	2	529	2	EBLN2	3	73111759	Missense_Mutation	SNP	C	TCGA-EJ-5522-01A-01D-1576-08	21698564	73111759	124910671	10	2984											
ROBO2	6092	broad.mit.edu	37	chr3	77147227	77147227	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatccttccgatgtcatcGtctctaagggcgagcccacg	8	9	10	14	4	2	0	1	0	1	0	6	2	4	0	3	1	2	1	3	1	1	2			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr3:77147227G>A	ENST00000461745.1	+	2	1024	c.124G>A	c.(124-126)Gtc>Atc	p.V42I	ROBO2_ENST00000332191.8_Missense_Mutation_p.V42I|ROBO2_ENST00000487694.3_Missense_Mutation_p.V58I	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	42	Ig-like C2-type 1.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	p.V42I(1)|p.V58I(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CGATGTCATCGTCTCTAAGGG	0.547													12	36					0	0	0.38729	0	0	A	77147227	G	A	77147227	3	1	58	1	0	0	0	0	1	0	0	0	13566	1145	40	1	132	1	ROBO2	3	77147227	Missense_Mutation	SNP	G	TCGA-EJ-5522-01A-01D-1576-08	4035468	77147227	120875203	11	2985											
OCIAD1	54940	broad.mit.edu	37	chr4	48851971	48851971	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttacaaataagttgcttgTatcatgggatactttgctgg	10	17	9	5	0	1	0	1	0	0	0	1	1	1	1	0	2	4	4	0	2	5	8			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr4:48851971T>C	ENST00000425583.2	+	6	524	c.249T>C	c.(247-249)tgT>tgC	p.C83C	OCIAD1_ENST00000264312.7_Silent_p.C83C|OCIAD1_ENST00000381473.3_Silent_p.C83C|OCIAD1_ENST00000444354.2_Silent_p.C83C|OCIAD1_ENST00000506801.1_Silent_p.C29C|OCIAD1_ENST00000508293.1_Silent_p.C83C|OCIAD1_ENST00000512981.1_3'UTR|OCIAD1_ENST00000513391.2_Silent_p.C83C|OCIAD1_ENST00000509122.1_Silent_p.C56C|OCIAD1_ENST00000396448.2_Silent_p.C83C	NM_001079842.2	NP_001073311.2	Q9NX40	OCAD1_HUMAN	OCIA domain containing 1	83	OCIA.					endosome	protein binding	p.C83C(1)		breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						AAGTTGCTTGTATCATGGGAT	0.318													39	128					0	0	0.812448	0	0	C	48851971	T	C	48851971	2	2	58	1	0	0	0	0	0	0	0	1	10865	1644	57	3		3	OCIAD1	4	48851971	Silent	SNP	T	TCGA-EJ-5522-01A-01D-1576-08		48851971	142302305	12	2986											
HMGCR	3156	broad.mit.edu	37	chr5	74646121	74646121	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagggtcgtccaatttggcaGctcagccattttgcccgagt	7	11	12	11	2	1	0	1	0	0	0	3	2	2	0	3	2	3	2	3	2	1	3			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr5:74646121G>A	ENST00000287936.4	+	8	858	c.702G>A	c.(700-702)caG>caA	p.Q234Q	HMGCR_ENST00000511206.1_Silent_p.Q234Q|HMGCR_ENST00000343975.5_Silent_p.Q234Q	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	234					cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding	p.Q234Q(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	CAATTTGGCAGCTCAGCCATT	0.413													3	101					0	0	0.115264	0	0	A	74646121	G	A	74646121	2	1	58	1	0	0	0	0	0	0	0	1	7272	962	34	2		2	HMGCR	5	74646121	Silent	SNP	G	TCGA-EJ-5522-01A-01D-1576-08		74646121	106269139	13	2987											
PCDHGA3	0	broad.mit.edu	37	chr5	140725403	140725403	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacagagactcgggccagaaCgcctggctgtcctaccgcct	8	6	12	15	3	0	2	0	0	0	2	2	4	1	2	5	2	2	1	5	2	2	1			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr5:140725403C>T	ENST00000253812.6	+	1	1803	c.1803C>T	c.(1801-1803)aaC>aaT	p.N601N	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1												p.N601N(1)		breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGCCAGAACGCCTGGCTGT	0.697													11	39					0	0	0.557998	0	0	T	140725403	C	T	140725403	2	4	58	1	0	0	0	0	0	0	0	1	11602	535	19	1		1	PCDHGA3	5	140725403	Silent	SNP	C	TCGA-EJ-5522-01A-01D-1576-08	66079282	140725403	40189857	14	2988											
PCDHGA4	0	broad.mit.edu	37	chr5	140735373	140735373	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggaacgcgctctagatcgCgaggaagaggcggttcacca	10	6	14	11	5	2	2	1	0	1	2	3	5	2	4	1	4	1	2	1	4	3	2			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr5:140735373C>T	ENST00000571252.1	+	1	606	c.606C>T	c.(604-606)cgC>cgT	p.R202R	PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTAGATCGCGAGGAAGAGG	0.552													6	21					0	0	0.27861	0	0	T	140735373	C	T	140735373	2	4	58	1	0	0	0	0	0	0	0	1	11603	755	27	1		1	PCDHGA4	5	140735373	Silent	SNP	C	TCGA-EJ-5522-01A-01D-1576-08	9970	140735373	40179887	15	2989											
KCTD16	57528	broad.mit.edu	37	chr5	143586927	143586927	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgaaagcagagaccctgatcGagccccagaaagatacacct	15	5	9	12	1	0	5	0	2	0	3	1	7	0	5	4	0	3	1	4	0	3	1			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr5:143586927G>A	ENST00000507359.2	+	2	1741	c.650G>A	c.(649-651)cGa>cAa	p.R217Q	KCTD16_ENST00000512467.1_Missense_Mutation_p.R217Q	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	217						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R217Q(1)		large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			GACCCTGATCGAGCCCCAGAA	0.453													6	141					0	0	0.335167	0	0	A	143586927	G	A	143586927	3	1	58	1	0	0	0	0	1	0	0	0	8147	1058	37	1	652	1	KCTD16	5	143586927	Missense_Mutation	SNP	G	TCGA-EJ-5522-01A-01D-1576-08	2851554	143586927	37328333	16	2990											
BTNL8	79908	broad.mit.edu	37	chr5	180338568	180338568	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcatatcctgttccatgcgGcatgctcatctgagccgaga	9	10	10	12	2	2	2	1	1	1	1	4	3	4	2	3	1	4	4	3	1	1	2			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr5:180338568G>A	ENST00000231229.4	+	3	861	c.627G>A	c.(625-627)cgG>cgA	p.R209R	BTNL8_ENST00000400707.3_Silent_p.R84R|BTNL8_ENST00000340184.4_Silent_p.R209R|BTNL8_ENST00000505126.1_Silent_p.R2R|BTNL8_ENST00000511704.1_Silent_p.R93R|BTNL8_ENST00000533815.2_Silent_p.R25R|BTNL8_ENST00000508408.1_Silent_p.R209R	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	209	Ig-like V-type 2.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTTCCATGCGGCATGCTCATC	0.552													4	164					0	0	0.150653	0	0	A	180338568	G	A	180338568	2	1	58	1	0	0	0	0	0	0	0	1	1570	1190	42	2		2	BTNL8	5	180338568	Silent	SNP	G	TCGA-EJ-5522-01A-01D-1576-08	36751641	180338568	576692	17	2991											
CYP21A2	1589	broad.mit.edu	37	chr6	32008267	32008267	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccctacaaggaccgtgcaCggctgcccttgctcaatgcc	7	8	9	17	2	1	0	1	0	0	0	2	1	2	1	5	2	5	3	5	2	3	2			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr6:32008267C>T	ENST00000418967.2	+	8	1182	c.1024C>T	c.(1024-1026)Cgg>Tgg	p.R342W	CYP21A2_ENST00000435122.2_Missense_Mutation_p.R312W	NM_000500.7	NP_000491.4	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A, polypeptide 2	341	Steroid-binding (By similarity).				glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding	p.R342W(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11						GGACCGTGCACGGCTGCCCTT	0.667													7	36					0	0	0.27861	0	0	T	32008267	C	T	32008267	3	4	58	1	0	0	0	0	1	0	0	0	4176	527	19	1	2575	1	CYP21A2	6	32008267	Missense_Mutation	SNP	C	TCGA-EJ-5522-01A-01D-1576-08		32008267	139106800	18	2992											
ASCC3	10973	broad.mit.edu	37	chr6	101166013	101166013	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactggtcgaaaacggccatCaaagaagaaaagtccaatgt	17	7	9	8	2	1	2	1	0	0	2	3	3	2	2	2	2	2	0	2	2	8	1			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr6:101166013C>A	ENST00000369162.2	-	12	2361	c.2017G>T	c.(2017-2019)Gat>Tat	p.D673Y	ASCC3_ENST00000522650.1_Missense_Mutation_p.D673Y	NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	673					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.D673Y(1)		breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		AAACGGCCATCAAAGAAGAAA	0.343													44	117					6.21074e-16	7.79646e-16	0.859065	1	0	A	101166013	C	A	101166013	3	1	58	1	0	0	0	0	1	0	0	0	1032	826	29	4	4715	4	ASCC3	6	101166013	Missense_Mutation	SNP	C	TCGA-EJ-5522-01A-01D-1576-08	69157746	101166013	69949054	19	2993											
DLGAP2	9228	broad.mit.edu	37	chr8	1497834	1497834	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaagcccgccctgaggccGtgccactacctccaggtaag	8	5	11	17	2	0	1	0	1	0	0	1	1	1	1	7	2	3	1	7	2	3	2			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr8:1497834G>A	ENST00000421627.2	+	2	1109	c.975G>A	c.(973-975)ccG>ccA	p.P325P		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	404					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	p.P369P(1)|p.P347P(1)		breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CCCTGAGGCCGTGCCACTACC	0.597													4	4					0	0	0.150653	0	0	A	1497834	G	A	1497834	2	1	58	1	0	0	0	0	0	0	0	1	4588	1132	40	1		1	DLGAP2	8	1497834	Silent	SNP	G	TCGA-EJ-5522-01A-01D-1576-08		1497834	144866188	20	2994											
CSMD1	64478	broad.mit.edu	37	chr8	2910129	2910129	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaactcgttcccggtaaaTgaaccgtttcctggggattc	8	12	11	10	3	0	2	0	2	0	0	4	3	2	3	3	3	2	3	3	3	4	4			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr8:2910129T>A	ENST00000520002.1	-	51	8073	c.7518A>T	c.(7516-7518)tcA>tcT	p.S2506S	CSMD1_ENST00000542608.1_Silent_p.S2505S|CSMD1_ENST00000537824.1_Silent_p.S2505S|CSMD1_ENST00000400186.3_Silent_p.S2506S|CSMD1_ENST00000602723.1_Silent_p.S2506S|CSMD1_ENST00000602557.1_Silent_p.S2506S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2506	Sushi 15.					integral to membrane		p.S2505S(1)|p.S2234S(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCCCGGTAAATGAACCGTTTC	0.428													7	27					0	0	0.248553	0	0	A	2910129	T	A	2910129	2	1	58	1	0	0	0	0	0	0	0	1	3969	1451	51	5		5	CSMD1	8	2910129	Silent	SNP	T	TCGA-EJ-5522-01A-01D-1576-08	1412295	2910129	143453893	21	2995											
RBPMS	11030	broad.mit.edu	37	chr8	30407063	30407063	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagccaccccttgagcgctcCgtctcctgatagtgccagcc	7	8	9	17	2	1	2	0	2	1	0	3	2	2	2	7	0	4	1	7	0	2	2			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr8:30407063C>A	ENST00000287771.5	+	7	1141	c.575C>A	c.(574-576)cCg>cAg	p.P192Q	RBPMS_ENST00000397323.4_Intron|RBPMS_ENST00000320203.4_Intron|RBPMS_ENST00000538486.1_Intron	NM_001008711.1	NP_001008711.1	Q93062	RBPMS_HUMAN	RNA binding protein with multiple splicing	0					positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	cytoplasm|nucleus	nucleotide binding|poly(A) RNA binding|protein binding|transcription coactivator activity	p.P192Q(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172)		TTGAGCGCTCCGTCTCCTGAT	0.542													24	101					1.5548e-18	1.9942e-18	0.693898	1	0	A	30407063	C	A	30407063	3	1	58	1	0	0	0	0	1	0	0	0	13215	652	23	4	737	4	RBPMS	8	30407063	Missense_Mutation	SNP	C	TCGA-EJ-5522-01A-01D-1576-08	27496934	30407063	115956959	22	2996											
ANK1	286	broad.mit.edu	37	chr8	41572581	41572581	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttggccgccacgtgcagaggGgtaaatcctttctgaggaga	9	9	14	9	2	1	3	0	1	1	2	2	4	2	3	3	4	1	2	3	4	2	3			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr8:41572581G>A	ENST00000396942.1	-	15	1697	c.1614C>T	c.(1612-1614)acC>acT	p.T538T	ANK1_ENST00000347528.4_Silent_p.T538T|ANK1_ENST00000265709.8_Silent_p.T571T|ANK1_ENST00000289734.7_Silent_p.T538T|ANK1_ENST00000396945.1_Silent_p.T538T|ANK1_ENST00000352337.4_Silent_p.T538T|ANK1_ENST00000379758.2_Silent_p.T538T			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	538	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.T538T(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CGTGCAGAGGGGTAAATCCTT	0.627													22	91					0	0	0.667858	0	0	A	41572581	G	A	41572581	2	1	58	1	0	0	0	0	0	0	0	1	616	1219	43	2		2	ANK1	8	41572581	Silent	SNP	G	TCGA-EJ-5522-01A-01D-1576-08	11165518	41572581	104791441	23	2997											
CELF2	10659	broad.mit.edu	37	chr10	11330491	11330491	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctctctaccacgagcagcGccctgggagccctcacgagt	7	7	10	17	3	3	0	1	0	2	0	4	3	3	1	3	1	4	1	3	1	1	1			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr10:11330491G>A	ENST00000379261.4	+	9	1023	c.931G>A	c.(931-933)Gcc>Acc	p.A311T	CELF2_ENST00000399850.3_Missense_Mutation_p.A287T|CELF2_ENST00000427450.1_Missense_Mutation_p.A287T|CELF2_ENST00000450189.1_Missense_Mutation_p.A318T|CELF2_ENST00000417956.2_Missense_Mutation_p.A287T|CELF2_ENST00000542579.1_Missense_Mutation_p.A318T|CELF2_ENST00000315874.3_Missense_Mutation_p.A287T|CELF2_ENST00000354897.3_Missense_Mutation_p.A287T|CELF2_ENST00000354440.2_Missense_Mutation_p.A287T|CELF2_ENST00000416382.2_Missense_Mutation_p.A311T|CELF2_ENST00000537122.1_Missense_Mutation_p.A200T	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	311	Ala-rich.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	p.A306T(1)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						CACGAGCAGCGCCCTGGGAGC	0.637													10	45					0	0	0.457914	0	0	A	11330491	G	A	11330491	3	1	58	1	0	0	0	0	1	0	0	0	3238	1087	38	1	1043	1	CELF2	10	11330491	Missense_Mutation	SNP	G	TCGA-EJ-5522-01A-01D-1576-08		11330491	124204256	24	2998											
GHITM	27069	broad.mit.edu	37	chr10	85904774	85904774	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatgagaggctcttgggtggTaagtcagctgtttttgtttt	6	17	14	4	0	2	1	1	1	1	1	2	3	2	1	0	3	1	5	0	3	1	6			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr10:85904774T>C	ENST00000372134.3	+	5	676		c.e5+2			NM_014394.2	NP_055209.2	Q9H3K2	GHITM_HUMAN	growth hormone inducible transmembrane protein						apoptosis	integral to membrane|mitochondrial inner membrane		p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2)	10						TCTTGGGTGGTAAGTCAGCTG	0.368													3	176					0	0	0.115264	0	0	C	85904774	T	C	85904774	5	2	58	1	0	0	0	0	0	0	1	0	6412	1652	57	3	499	3	GHITM	10	85904774	Splice_Site	SNP	T	TCGA-EJ-5522-01A-01D-1576-08	74574283	85904774	49629973	25	2999											
OR5L2	26338	broad.mit.edu	37	chr11	55594892	55594892	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactttttcctcagccacttGtcctttgtagatttctgcta	6	19	5	11	0	2	1	1	0	1	1	4	1	4	1	3	0	3	2	3	0	3	8			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr11:55594892G>T	ENST00000378397.1	+	1	198	c.198G>T	c.(196-198)ttG>ttT	p.L66F		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L66F(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TCAGCCACTTGTCCTTTGTAG	0.473										HNSCC(27;0.073)			6	486					3.59834e-05	4.24604e-05	0.217242	1	0	T	55594892	G	T	55594892	3	4	58	1	0	0	0	0	1	0	0	0	11218	1368	48	4	200	4	OR5L2	11	55594892	Missense_Mutation	SNP	G	TCGA-EJ-5522-01A-01D-1576-08		55594892	79411624	26	3000											
OR8J1	219477	broad.mit.edu	37	chr11	56128312	56128312	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgatacttacttaccagaaaCagttgtctttatatctgcag	12	15	6	8	0	2	2	0	1	2	1	2	2	2	2	1	0	5	2	1	0	6	7			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr11:56128312C>T	ENST00000303039.3	+	1	622	c.590C>T	c.(589-591)aCa>aTa	p.T197I		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T197I(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					TTACCAGAAACAGTTGTCTTT	0.294													50	140					0	0	0.870114	0	0	T	56128312	C	T	56128312	3	4	58	1	0	0	0	0	1	0	0	0	11288	478	17	2	592	2	OR8J1	11	56128312	Missense_Mutation	SNP	C	TCGA-EJ-5522-01A-01D-1576-08	533420	56128312	78878204	27	3001											
CCDC88B	283234	broad.mit.edu	37	chr11	64109490	64109490	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggctgaactgctgctggagCgagaacccctctgcttgagg	7	9	14	11	1	1	3	0	2	1	1	1	5	1	4	2	3	6	4	2	3	2	1			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr11:64109490C>A	ENST00000356786.5	+	8	744	c.700C>A	c.(700-702)Cga>Aga	p.R234R	CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	234					microtubule cytoskeleton organization	cytoplasm	microtubule binding	p.R234R(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCTGCTGGAGCGAGAACCCCT	0.632													3	46					0.004672	0.00520091	0.115264	1	0	A	64109490	C	A	64109490	2	1	58	1	0	0	0	0	0	0	0	1	2884	760	27	4		4	CCDC88B	11	64109490	Silent	SNP	C	TCGA-EJ-5522-01A-01D-1576-08	7981178	64109490	70897026	28	3002											
UTP20	27340	broad.mit.edu	37	chr12	101764854	101764854	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcaattttatcaagaaagCtgttggtcccagaaatcgat	14	11	9	7	1	1	2	1	0	0	2	3	3	2	2	1	2	1	3	1	2	5	3			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr12:101764854C>T	ENST00000261637.4	+	51	6880	c.6706C>T	c.(6706-6708)Ctg>Ttg	p.L2236L		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2236					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding	p.L2236L(1)		NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						ATCAAGAAAGCTGTTGGTCCC	0.448													56	218					0	0	0.870114	0	0	T	101764854	C	T	101764854	2	4	58	1	0	0	0	0	0	0	0	1	17159	796	28	2		2	UTP20	12	101764854	Silent	SNP	C	TCGA-EJ-5522-01A-01D-1576-08		101764854	32087041	29	3003											
TNFAIP2	7127	broad.mit.edu	37	chr14	103599852	103599852	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccagcacttctgcacccagCacgtaagccgctgcccacct	8	7	7	19	2	1	0	0	0	1	0	2	0	2	0	5	0	5	5	5	0	1	2			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr14:103599852C>A	ENST00000560869.1	+	10	2338	c.1699C>A	c.(1699-1701)Cac>Aac	p.H567N	TNFAIP2_ENST00000451723.2_Missense_Mutation_p.H236N|TNFAIP2_ENST00000538222.1_Missense_Mutation_p.H50N|TNFAIP2_ENST00000333007.1_Missense_Mutation_p.H567N			Q03169	TNAP2_HUMAN	tumor necrosis factor, alpha-induced protein 2	567					angiogenesis|cell differentiation	extracellular space		p.H567N(1)		NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11		Melanoma(154;0.155)	Epithelial(46;0.191)			CTGCACCCAGCACGTAAGCCG	0.627													3	50					0.115264	0.125937	0.115264	1	0	A	103599852	C	A	103599852	3	1	58	1	0	0	0	0	1	0	0	0	16333	710	25	4	1733	4	TNFAIP2	14	103599852	Missense_Mutation	SNP	C	TCGA-EJ-5522-01A-01D-1576-08		103599852	3749688	30	3004											
SECISBP2L	9728	broad.mit.edu	37	chr15	49329843	49329843	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtaatcaggtagctgggaaTtggagttggttccacaccag	11	10	13	7	0	1	0	1	0	0	0	2	2	2	2	2	4	1	5	2	4	3	5			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr15:49329843T>A	ENST00000559471.1	-	2	411	c.148A>T	c.(148-150)Att>Ttt	p.I50F	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.I50F	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	50								p.I50F(1)|p.I50V(1)		breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						TAGCTGGGAATTGGAGTTGGT	0.398													34	82					0	0	0.779181	0	0	A	49329843	T	A	49329843	3	1	58	1	0	0	0	0	1	0	0	0	14061	1493	52	5	3086	5	SECISBP2L	15	49329843	Missense_Mutation	SNP	T	TCGA-EJ-5522-01A-01D-1576-08		49329843	53201549	31	3005											
ATP8B4	79895	broad.mit.edu	37	chr15	50190384	50190384	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagtgaccctgcagcaaattAcagtcttacacatgcaagca	14	8	8	11	0	1	1	0	1	1	0	1	2	1	1	1	0	6	4	1	0	4	2			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr15:50190384A>G	ENST00000284509.6	-	22	2495	c.2354T>C	c.(2353-2355)gTa>gCa	p.V785A	ATP8B4_ENST00000559829.1_Missense_Mutation_p.V785A	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	785					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.V785A(1)		breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		GCAGCAAATTACAGTCTTACA	0.423													4	154					0	0	0.150653	0	0	G	50190384	A	G	50190384	3	3	58	1	0	0	0	0	1	0	0	0	1195	391	14	3	1252	3	ATP8B4	15	50190384	Missense_Mutation	SNP	A	TCGA-EJ-5522-01A-01D-1576-08	860541	50190384	52341008	32	3006											
FAM83G	644815	broad.mit.edu	37	chr17	18874710	18874710	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccggggggcttgagccctccGtttagaatccgatgaggccc	6	8	14	13	3	0	3	0	2	0	1	2	4	2	3	5	4	1	2	5	4	2	3			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr17:18874710G>A	ENST00000388995.6	-	6	2657	c.2434C>T	c.(2434-2436)Cgg>Tgg	p.R812W	FAM83G_ENST00000345041.4_Missense_Mutation_p.R812W|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395643.2_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.R812W|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000317977.6_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	812								p.R812W(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						TGAGCCCTCCGTTTAGAATCC	0.622													14	69					0	0	0.681144	0	0	A	18874710	G	A	18874710	3	1	58	1	0	0	0	0	1	0	0	0	5671	1144	40	1	41	1	FAM83G	17	18874710	Missense_Mutation	SNP	G	TCGA-EJ-5522-01A-01D-1576-08		18874710	62320500	33	3007											
LPO	0	broad.mit.edu	37	chr17	56345181	56345181	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaccctggggtcttcacgaaCgagcagaaggactctctaca	12	7	10	12	2	3	1	1	0	2	1	4	4	3	2	1	3	4	1	1	3	4	2			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr17:56345181C>T	ENST00000262290.4	+	13	2281	c.1965C>T	c.(1963-1965)aaC>aaT	p.N655N	LPO_ENST00000582328.1_Silent_p.N572N|LPO_ENST00000421678.2_Silent_p.N572N|LPO_ENST00000543544.1_Silent_p.N596N	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	655					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.N655N(1)		breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						TCTTCACGAACGAGCAGAAGG	0.577													19	83					0	0	0.557998	0	0	T	56345181	C	T	56345181	2	4	58	1	0	0	0	0	0	0	0	1	8967	535	19	1		1	LPO	17	56345181	Silent	SNP	C	TCGA-EJ-5522-01A-01D-1576-08	37470471	56345181	24850029	34	3008											
PRAM1	84106	broad.mit.edu	37	chr19	8564163	8564163	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggttcggaggggggtctggCggggtgactgagttcgtcgg	3	9	23	6	4	1	2	0	2	1	0	4	3	1	3	0	9	0	2	0	9	0	2			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr19:8564163C>T	ENST00000423345.4	-	2	1049	c.529G>A	c.(529-531)Gcc>Acc	p.A177T	PRAM1_ENST00000255612.3_Missense_Mutation_p.A177T			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	225	Pro-rich.						lipid binding|protein binding	p.A177T(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						GGGGGTCTGGCGGGGTGACTG	0.697													5	21					0	0	0.184627	0	0	T	8564163	C	T	8564163	3	4	58	1	0	0	0	0	1	0	0	0	12472	768	27	1	1516	1	PRAM1	19	8564163	Missense_Mutation	SNP	C	TCGA-EJ-5522-01A-01D-1576-08		8564163	50564820	35	3009											
LYL1	4066	broad.mit.edu	37	chr19	13211896	13211896	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgaggcaggcttagggggTggggcaggcgctgggctggg	4	5	25	7	2	0	0	0	0	0	0	0	1	0	0	0	10	0	5	0	10	1	1			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr19:13211896T>G	ENST00000264824.4	-	2	450	c.90A>C	c.(88-90)ccA>ccC	p.P30P		NM_005583.4	NP_005574.2	P12980	LYL1_HUMAN	lymphoblastic leukemia derived sequence 1	30					B cell differentiation|blood vessel maturation|definitive hemopoiesis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.P30P(1)		cervix(1)|endometrium(2)|kidney(1)|lung(2)|prostate(1)	7			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)			GCTTAGGGGGTGGGGCAGGCG	0.706			T	TRB@	T-ALL								3	8					0	0	0.150653	0	0	G	13211896	T	G	13211896	2	3	58	1	0	0	0	0	0	0	0	1	9152	1683	59	5		5	LYL1	19	13211896	Silent	SNP	T	TCGA-EJ-5522-01A-01D-1576-08	4647733	13211896	45917087	36	3010											
ABCG1	9619	broad.mit.edu	37	chr21	43702403	43702403	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtcaaggagatactgacagCgctgggcttgctgtcttgcg	7	10	15	9	2	2	2	1	1	1	1	2	3	2	2	0	3	4	3	0	3	2	3			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr21:43702403C>A	ENST00000398437.1	+	7	1194	c.1046C>A	c.(1045-1047)gCg>gAg	p.A349E	ABCG1_ENST00000398449.3_Missense_Mutation_p.A203E|ABCG1_ENST00000340588.4_Missense_Mutation_p.A311E|ABCG1_ENST00000343687.3_Missense_Mutation_p.A214E|ABCG1_ENST00000398457.2_Missense_Mutation_p.A205E|ABCG1_ENST00000361802.2_Missense_Mutation_p.A203E|ABCG1_ENST00000347800.2_Missense_Mutation_p.A200E|ABCG1_ENST00000462050.1_3'UTR			P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	203					amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity	p.A205E(1)|p.A203E(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	ATACTGACAGCGCTGGGCTTG	0.637													5	80					0.000602214	0.000696679	0.184627	1	0	A	43702403	C	A	43702403	3	1	58	1	0	0	0	0	1	0	0	0	68	768	27	4	798	4	ABCG1	21	43702403	Missense_Mutation	SNP	C	TCGA-EJ-5522-01A-01D-1576-08		43702403	4427492	37	3011											
PIWIL3	440822	broad.mit.edu	37	chr22	25144942	25144942	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacggacaaaaaattggtatCaaatttcaaatcccagagtt	17	10	7	7	1	2	1	2	0	0	1	3	3	3	2	1	2	0	2	1	2	6	4			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr22:25144942C>A	ENST00000332271.5	-	12	1797	c.1381G>T	c.(1381-1383)Gat>Tat	p.D461Y	PIWIL3_ENST00000533313.1_Missense_Mutation_p.D352Y|PIWIL3_ENST00000527701.1_Missense_Mutation_p.D352Y|PIWIL3_ENST00000532537.2_5'UTR	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	461					cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding	p.D461Y(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						AAATTGGTATCAAATTTCAAA	0.348													46	137					6.68952e-21	8.77071e-21	0.864702	1	0	A	25144942	C	A	25144942	3	1	58	1	0	0	0	0	1	0	0	0	12007	826	29	4	1307	4	PIWIL3	22	25144942	Missense_Mutation	SNP	C	TCGA-EJ-5522-01A-01D-1576-08		25144942	26159624	38	3012											
ASPHD2	57168	broad.mit.edu	37	chr22	26830386	26830386	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaacaatgtttttgggaacGcgtgcatctctgtgctgagc	8	12	13	8	2	1	1	0	1	1	0	2	3	1	3	0	2	5	3	0	2	3	2			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chr22:26830386G>A	ENST00000215906.5	+	2	1243	c.805G>A	c.(805-807)Gcg>Acg	p.A269T		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	269					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity	p.A243T(1)		endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						TTTTGGGAACGCGTGCATCTC	0.547													51	206					0	0	0.870114	0	0	A	26830386	G	A	26830386	3	1	58	1	0	0	0	0	1	0	0	0	1054	1087	38	1	807	1	ASPHD2	22	26830386	Missense_Mutation	SNP	G	TCGA-EJ-5522-01A-01D-1576-08	1685444	26830386	24474180	39	3013											
CCNB3	85417	broad.mit.edu	37	chrX	50054016	50054016	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgtccttcaaggagccattAgccttacaagagagtcccac	11	10	8	12	0	1	1	1	0	0	1	3	3	3	2	4	1	3	0	4	1	4	4			TCGA-EJ-5522-01A-01D-1576-08	TCGA-EJ-5522-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a89182-c17c-42a8-af9e-4fcc861e336c	9b4b6723-8e0e-4e98-a726-c023723e08b1	g.chrX:50054016A>G	ENST00000376042.1	+	6	3145	c.2847A>G	c.(2845-2847)ttA>ttG	p.L949L	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Silent_p.L949L			Q8WWL7	CCNB3_HUMAN	cyclin B3	949					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	p.L949L(5)		breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					AGGAGCCATTAGCCTTACAAG	0.483													3	98					0	0	0.115264	0	0	G	50054016	A	G	50054016	2	3	58	1	0	0	0	0	0	0	0	1	2936	417	15	3		3	CCNB3	23	50054016	Silent	SNP	A	TCGA-EJ-5522-01A-01D-1576-08		50054016	105216544	40	3014											
C1orf174	339448	broad.mit.edu	37	chr1	3807511	3807511	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcacttttggcaaagaagcGctgtcattcttagggacaag	11	11	11	8	1	3	1	2	0	1	1	3	2	3	2	0	2	1	2	0	2	4	4			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr1:3807511G>A	ENST00000361605.3	-	3	338	c.240C>T	c.(238-240)agC>agT	p.S80S	C1orf174_ENST00000486765.1_5'UTR	NM_207356.2	NP_997239.2	Q8IYL3	CA174_HUMAN	chromosome 1 open reading frame 174	80								p.S80S(1)		endometrium(1)|large_intestine(5)|lung(4)|prostate(1)	11	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;5.09e-25)|all_epithelial(116;9.35e-17)|all_lung(118;1.09e-06)|Lung NSC(185;0.000139)|all_neural(13;0.00287)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0219)|all_hematologic(16;0.027)|Colorectal(325;0.0276)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;1.55e-39)|OV - Ovarian serous cystadenocarcinoma(86;5.99e-23)|GBM - Glioblastoma multiforme(42;2.22e-17)|Colorectal(212;1.08e-05)|COAD - Colon adenocarcinoma(227;5.49e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000365)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.19)		GCAAAGAAGCGCTGTCATTCT	0.498													71	144					0	0	1	0	0	A	3807511	G	A	3807511	2	1	59	1	0	0	0	0	0	0	0	1	2028	1078	38	1		1	C1orf174	1	3807511	Silent	SNP	G	TCGA-EJ-5524-01A-01D-1576-08		3807511	245443110	1	3015											
ARHGEF10L	55160	broad.mit.edu	37	chr1	17949669	17949669	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggggacctcttcgtggcctCggtaagtgtccccaaacttt	6	11	11	13	3	1	0	0	0	1	0	4	1	2	1	4	4	1	1	4	4	2	3			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr1:17949669C>T	ENST00000361221.3	+	12	1358	c.1200_splice	c.e12+1	p.S400_splice	ARHGEF10L_ENST00000375408.3_Splice_Site_p.S178_splice|ARHGEF10L_ENST00000434513.1_Splice_Site_p.S400_splice|ARHGEF10L_ENST00000452522.1_Splice_Site_p.S361_splice|ARHGEF10L_ENST00000375420.3_Splice_Site_p.S158_splice|ARHGEF10L_ENST00000375415.1_Splice_Site_p.S361_splice|ARHGEF10L_ENST00000167825.4_Splice_Site_p.S178_splice|ARHGEF10L_ENST00000469726.1_3'UTR	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	400	DH.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	p.S400L(3)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		TTCGTGGCCTCGGTAAGTGTC	0.602													30	71					0	0	1	0	0	T	17949669	C	T	17949669	5	4	59	1	0	0	0	0	0	0	1	0	892	898	31	1	1241	1	ARHGEF10L	1	17949669	Splice_Site	SNP	C	TCGA-EJ-5524-01A-01D-1576-08	14142158	17949669	231300952	2	3016											
CLCA2	9635	broad.mit.edu	37	chr1	86916415	86916415	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtaccaggttacacagcaaaCggtaagaaccattagcactg	15	7	9	10	1	0	1	0	0	0	1	0	1	0	1	2	2	6	5	2	2	6	4	rs140158852		TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr1:86916415C>T	ENST00000370565.4	+	12	2316	c.2155_splice	c.e12+1	p.N718_splice	CLCA2_ENST00000498802.1_3'UTR	NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	718					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity	p.N718N(1)		NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		ACACAGCAAACGGTAAGAACC	0.448													31	203					0	0	1	0	0	T	86916415	C	T	86916415	5	4	59	1	0	0	0	0	0	0	1	0	3481	550	19	1	2200	1	CLCA2	1	86916415	Splice_Site	SNP	C	TCGA-EJ-5524-01A-01D-1576-08	68966746	86916415	162334206	3	3017											
HMGCS2	3158	broad.mit.edu	37	chr1	120302609	120302609	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacagaccaccatggcataaCgacctgtaaagagaaacaag	18	4	8	11	1	0	2	0	0	0	2	0	4	0	2	3	1	2	2	3	1	5	2			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr1:120302609C>T	ENST00000369406.3	-	3	612	c.563G>A	c.(562-564)cGt>cAt	p.R188H	HMGCS2_ENST00000476640.1_5'UTR|HMGCS2_ENST00000544913.2_Intron	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	188					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity	p.R188H(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		CATGGCATAACGACCTGTAAA	0.488													26	72					0	0	1	0	0	T	120302609	C	T	120302609	3	4	59	1	0	0	0	0	1	0	0	0	7274	536	19	1	991	1	HMGCS2	1	120302609	Missense_Mutation	SNP	C	TCGA-EJ-5524-01A-01D-1576-08	33386194	120302609	128948012	4	3018											
SEMA6C	10500	broad.mit.edu	37	chr1	151105861	151105861	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccccgacgtcggtgggcgCggcgacaagcacaggagacc	8	3	16	14	6	0	1	0	0	0	1	1	4	0	1	3	4	2	1	3	4	1	0			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr1:151105861C>T	ENST00000341697.3	-	19	3583	c.1892G>A	c.(1891-1893)cGc>cAc	p.R631H				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	631						integral to membrane	receptor activity	p.R631H(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCGGTGGGCGCGGCGACAAGC	0.716													3	24					0	0	1	0	0	T	151105861	C	T	151105861	3	4	59	1	0	0	0	0	1	0	0	0	14095	768	27	1	904	1	SEMA6C	1	151105861	Missense_Mutation	SNP	C	TCGA-EJ-5524-01A-01D-1576-08	30803252	151105861	98144760	5	3019											
HMCN1	83872	broad.mit.edu	37	chr1	185880818	185880818	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctttcagggaagctgataaAaaagggatttggcctgcatg	12	11	12	6	0	2	1	1	1	1	0	2	3	2	3	1	3	2	2	1	3	4	3			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr1:185880818A>C	ENST00000271588.4	+	6	1035	c.806A>C	c.(805-807)aAa>aCa	p.K269T	HMCN1_ENST00000367492.2_Missense_Mutation_p.K269T	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	269					response to stimulus|visual perception	basement membrane	calcium ion binding	p.K269T(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AAGCTGATAAAAAAGGGATTT	0.393													24	389					0	0	1	0	0	C	185880818	A	C	185880818	3	2	59	1	0	0	0	0	1	0	0	0	7261	14	1	5	828	5	HMCN1	1	185880818	Missense_Mutation	SNP	A	TCGA-EJ-5524-01A-01D-1576-08	34774957	185880818	63369803	6	3020											
CYP26B1	56603	broad.mit.edu	37	chr2	72359460	72359460	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatccacggggtgcaggaCggggaccaaggtgatgcggg	8	4	19	10	3	0	1	0	1	0	0	1	3	1	3	3	7	2	1	3	7	1	0	rs148075682		TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr2:72359460C>T	ENST00000001146.2	-	6	1638	c.1435G>A	c.(1435-1437)Gtc>Atc	p.V479I	CYP26B1_ENST00000546307.1_Missense_Mutation_p.V404I|CYP26B1_ENST00000412253.1_Missense_Mutation_p.V288I	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	479			V -> I.		cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding	p.V479I(2)		breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						GGGTGCAGGACGGGGACCAAG	0.642													3	27					0	0	1	0	0	T	72359460	C	T	72359460	3	4	59	1	0	0	0	0	1	0	0	0	4179	536	19	1	107	1	CYP26B1	2	72359460	Missense_Mutation	SNP	C	TCGA-EJ-5524-01A-01D-1576-08		72359460	170839913	7	3021											
CNTNAP5	129684	broad.mit.edu	37	chr2	125660643	125660643	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttcatggtggactcagaTgtgaatgcagtgaccacggt	9	10	14	8	1	2	3	2	2	0	1	2	4	2	4	1	4	1	2	1	4	1	1			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr2:125660643T>A	ENST00000431078.1	+	22	3982	c.3618T>A	c.(3616-3618)gaT>gaA	p.D1206E		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1206					cell adhesion|signal transduction	integral to membrane	receptor binding	p.D1206E(2)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TGGACTCAGATGTGAATGCAG	0.532													15	15					0	0	1	0	0	A	125660643	T	A	125660643	3	1	59	1	0	0	0	0	1	0	0	0	3673	1461	51	5	3704	5	CNTNAP5	2	125660643	Missense_Mutation	SNP	T	TCGA-EJ-5524-01A-01D-1576-08	53301183	125660643	117538730	8	3022											
LY75	4065	broad.mit.edu	37	chr2	160706545	160706545	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatgggtgaaagttactgtaCgtcagctctctgttatctgt	9	15	10	7	1	3	1	1	1	2	0	4	1	3	1	0	1	3	4	0	1	5	3	rs114924959	byFrequency	TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr2:160706545C>T	ENST00000263636.4	-	23	3123	c.3096G>A	c.(3094-3096)acG>acA	p.T1032T	LY75-CD302_ENST00000504764.1_Silent_p.T1032T|LY75-CD302_ENST00000505052.1_Silent_p.T1032T|LY75_ENST00000554112.1_Silent_p.T1032T|LY75_ENST00000553424.1_Silent_p.T1032T	NM_002349.3	NP_002340.2			lymphocyte antigen 75									p.T1032T(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		AGTTACTGTACGTCAGCTCTC	0.383													20	274					0	0	1	0	0	T	160706545	C	T	160706545	2	4	59	1	0	0	0	0	0	0	0	1	9145	523	19	1		1	LY75	2	160706545	Silent	SNP	C	TCGA-EJ-5524-01A-01D-1576-08	35045902	160706545	82492828	9	3023											
CPS1	1373	broad.mit.edu	37	chr2	211421556	211421556	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaaatggaaattttcaagAcctggcatcaggctcctttc	13	11	7	10	0	2	1	2	0	0	1	4	2	3	2	2	3	0	2	2	3	4	3			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr2:211421556A>G	ENST00000233072.5	+	1	295	c.99A>G	c.(97-99)agA>agG	p.R33R	CPS1_ENST00000430249.2_Silent_p.R39R	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	33					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	p.R33R(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		AATTTTCAAGACCTGGCATCA	0.403													13	235					0	0	1	0	0	G	211421556	A	G	211421556	2	3	59	1	0	0	0	0	0	0	0	1	3846	272	10	3		3	CPS1	2	211421556	Silent	SNP	A	TCGA-EJ-5524-01A-01D-1576-08	50715011	211421556	31777817	10	3024											
ABCA12	26154	broad.mit.edu	37	chr2	215914419	215914419	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgttagaaaggcaaaatttGttaaaaacatttcttcctag	16	14	6	5	0	1	1	0	0	1	1	2	1	2	1	1	1	1	3	1	1	8	6			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr2:215914419G>T	ENST00000272895.7	-	6	843	c.624C>A	c.(622-624)aaC>aaA	p.N208K		NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	208					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	p.N208K(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GGCAAAATTTGTTAAAAACAT	0.383													28	103					2.48779e-11	2.71396e-11	1	1	0	T	215914419	G	T	215914419	3	4	59	1	0	0	0	0	1	0	0	0	30	1368	48	4	7386	4	ABCA12	2	215914419	Missense_Mutation	SNP	G	TCGA-EJ-5524-01A-01D-1576-08	4492863	215914419	27284954	11	3025											
ARGFX	503582	broad.mit.edu	37	chr3	121303769	121303769	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atctctgccctgaagcaataCggagaaggcataaagaacgt	15	7	10	9	2	1	3	0	1	1	2	2	4	1	3	1	2	4	2	1	2	7	2	rs149102809		TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr3:121303769C>T	ENST00000334384.3	+	3	236	c.226C>T	c.(226-228)Cgg>Tgg	p.R76W		NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN	arginine-fifty homeobox	76						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R76W(1)		kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		TGAAGCAATACGGAGAAGGCA	0.423													111	338					0	0	1	0	0	T	121303769	C	T	121303769	3	4	59	1	0	0	0	0	1	0	0	0	856	527	19	1	236	1	ARGFX	3	121303769	Missense_Mutation	SNP	C	TCGA-EJ-5524-01A-01D-1576-08		121303769	76718661	12	3026											
HTT	3064	broad.mit.edu	37	chr4	3138037	3138037	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagggtgcgacatgttgccGcagcatcactaattaggtat	10	10	11	10	2	1	0	1	0	0	0	1	1	1	0	2	2	3	4	2	2	3	4			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr4:3138037G>A	ENST00000355072.5	+	21	2927	c.2782G>A	c.(2782-2784)Gca>Aca	p.A928T		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	928					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	p.A928T(1)		breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		ACATGTTGCCGCAGCATCACT	0.378													5	105					0	0	1	0	0	A	3138037	G	A	3138037	3	1	59	1	0	0	0	0	1	0	0	0	7501	1087	38	1	2864	1	HTT	4	3138037	Missense_Mutation	SNP	G	TCGA-EJ-5524-01A-01D-1576-08		3138037	188016239	13	3027											
WDFY3	23001	broad.mit.edu	37	chr4	85719250	85719250	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatttaaaggacttgccaaaCgtaaaaactccctaagaaag	19	8	6	8	1	0	1	0	0	0	1	1	2	1	2	2	1	3	1	2	1	9	5			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr4:85719250C>T	ENST00000322366.6	-	18	3241	c.2834G>A	c.(2833-2835)cGt>cAt	p.R945H	WDFY3_ENST00000295888.4_Missense_Mutation_p.R945H			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	945						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	p.R945H(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		ACTTGCCAAACGTAAAAACTC	0.313													60	145					0	0	1	0	0	T	85719250	C	T	85719250	3	4	59	1	0	0	0	0	1	0	0	0	17330	536	19	1	7950	1	WDFY3	4	85719250	Missense_Mutation	SNP	C	TCGA-EJ-5524-01A-01D-1576-08	82581213	85719250	105435026	14	3028											
CDH18	1016	broad.mit.edu	37	chr5	19483619	19483619	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatacacatcctgaacagttCgactaaatctcctccgcctt	12	11	4	14	2	1	1	0	1	1	0	5	2	3	1	4	0	2	1	4	0	5	4			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr5:19483619C>T	ENST00000507958.1	-	14	2663	c.1673G>A	c.(1672-1674)cGa>cAa	p.R558Q	CDH18_ENST00000274170.4_Missense_Mutation_p.R558Q|CDH18_ENST00000506372.1_Intron|CDH18_ENST00000502796.1_Intron|CDH18_ENST00000382275.1_Missense_Mutation_p.R558Q			Q13634	CAD18_HUMAN	cadherin 18, type 2	558	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R558L(2)|p.R558Q(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CTGAACAGTTCGACTAAATCT	0.458													20	81					0	0	1	0	0	T	19483619	C	T	19483619	3	4	59	1	0	0	0	0	1	0	0	0	3125	884	31	1	707	1	CDH18	5	19483619	Missense_Mutation	SNP	C	TCGA-EJ-5524-01A-01D-1576-08		19483619	161431641	15	3029											
MICB	4277	broad.mit.edu	37	chr6	31477560	31477560	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgtttccctcttctccagaGcttgtgagcctgcaggtcct	4	13	9	15	1	2	2	0	1	2	1	5	2	4	2	5	1	3	3	5	1	0	3			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr6:31477560G>T	ENST00000252229.6	+	6	1105	c.1024_splice	c.e6-1	p.E342_splice	MICB_ENST00000538442.1_Splice_Site_p.E310_splice|MICB_ENST00000399150.3_Splice_Site_p.E299_splice	NM_005931.3	NP_005922.2	Q29980	MICB_HUMAN	MHC class I polypeptide-related sequence B	342					antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding	p.E342D(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						CTTCTCCAGAGCTTGTGAGCC	0.522													30	136					7.01153e-11	7.51236e-11	1	1	0	T	31477560	G	T	31477560	5	4	59	1	0	0	0	0	0	0	1	0	9623	985	34	4	1048	4	MICB	6	31477560	Splice_Site	SNP	G	TCGA-EJ-5524-01A-01D-1576-08		31477560	139637507	16	3030											
TEAD3	7005	broad.mit.edu	37	chr6	35444194	35444194	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggcagcagctgaggggagcGgggccaggggctcataacct	9	4	18	10	1	1	1	1	1	0	0	1	2	1	2	2	7	4	4	2	7	1	1			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr6:35444194G>A	ENST00000338863.7	-	9	838	c.611C>T	c.(610-612)cCg>cTg	p.P204L	TEAD3_ENST00000402886.3_Missense_Mutation_p.P144L	NM_003214.3	NP_003205.2	Q99594	TEAD3_HUMAN	TEA domain family member 3	204	Pro-rich.|Transcriptional activation (Potential).				female pregnancy|hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.P241L(1)|p.P204L(1)|p.P241Q(1)|p.P204Q(1)		central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	10						TGAGGGGAGCGGGGCCAGGGG	0.607													12	164					0	0	1	0	0	A	35444194	G	A	35444194	3	1	59	1	0	0	0	0	1	0	0	0	15799	1116	39	1	716	1	TEAD3	6	35444194	Missense_Mutation	SNP	G	TCGA-EJ-5524-01A-01D-1576-08	3966634	35444194	135670873	17	3031											
FAM83B	222584	broad.mit.edu	37	chr6	54735357	54735357	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgtggaagctccaaatcttGacttaggctggccatatgtg	10	12	11	8	0	1	1	0	1	1	0	2	2	2	2	2	3	1	2	2	3	4	3			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr6:54735357G>A	ENST00000306858.7	+	2	429	c.313G>A	c.(313-315)Gac>Aac	p.D105N		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	105								p.D105N(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TCCAAATCTTGACTTAGGCTG	0.463													114	216					0	0	1	0	0	A	54735357	G	A	54735357	3	1	59	1	0	0	0	0	1	0	0	0	5666	1290	45	2	315	2	FAM83B	6	54735357	Missense_Mutation	SNP	G	TCGA-EJ-5524-01A-01D-1576-08	19291163	54735357	116379710	18	3032											
COL21A1	0	broad.mit.edu	37	chr6	56035897	56035897	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcccctttcatcacgagctgCcactggaattcgtgttggac	7	12	9	13	2	2	0	2	0	0	0	4	3	3	2	3	2	2	2	3	2	1	3			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr6:56035897C>A	ENST00000244728.5	-	4	1067	c.670G>T	c.(670-672)Gca>Tca	p.A224S	COL21A1_ENST00000370819.1_Missense_Mutation_p.A224S|COL21A1_ENST00000535941.1_Missense_Mutation_p.A224S	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	224					cell adhesion	collagen|cytoplasm	structural molecule activity	p.A224S(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TCACGAGCTGCCACTGGAATT	0.318													36	92					7.53189e-24	8.86105e-24	1	1	0	A	56035897	C	A	56035897	3	1	59	1	0	0	0	0	1	0	0	0	3703	739	26	4	2311	4	COL21A1	6	56035897	Missense_Mutation	SNP	C	TCGA-EJ-5524-01A-01D-1576-08	1300540	56035897	115079170	19	3033											
TTYH3	80727	broad.mit.edu	37	chr7	2698620	2698620	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgctgtgagaacaccccaCtcattgggcgcgagtccccg	7	6	11	17	4	1	1	1	1	0	1	2	3	2	1	5	1	1	1	5	1	1	1			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr7:2698620C>G	ENST00000258796.7	+	13	1676	c.1471C>G	c.(1471-1473)Ctc>Gtc	p.L491V	TTYH3_ENST00000403167.1_Missense_Mutation_p.L320V|TTYH3_ENST00000407643.1_Missense_Mutation_p.L459V	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	491						chloride channel complex|plasma membrane	chloride channel activity	p.L491V(1)		kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		GAACACCCCACTCATTGGGCG	0.647													16	175					0	0	1	0	0	G	2698620	C	G	2698620	3	3	59	1	0	0	0	0	1	0	0	0	16803	565	20	4	1521	4	TTYH3	7	2698620	Missense_Mutation	SNP	C	TCGA-EJ-5524-01A-01D-1576-08		2698620	156440043	20	3034											
ROR2	4920	broad.mit.edu	37	chr9	94486051	94486051	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcctctgcttcctgcaCggtgctctgggccccatctt	2	13	8	18	1	3	0	0	0	3	0	6	0	6	0	5	2	3	3	5	2	0	2			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr9:94486051C>T	ENST00000375708.3	-	9	2923	c.2725G>A	c.(2725-2727)Gtg>Atg	p.V909M	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Intron	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	909					negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	p.V909M(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GCTTCCTGCACGGTGCTCTGG	0.637													39	185					0	0	1	0	0	T	94486051	C	T	94486051	3	4	59	1	0	0	0	0	1	0	0	0	13579	536	19	1	110	1	ROR2	9	94486051	Missense_Mutation	SNP	C	TCGA-EJ-5524-01A-01D-1576-08		94486051	46727380	21	3035											
TTLL11	158135	broad.mit.edu	37	chr9	124752018	124752018	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacgataaaagtgggcttcCaggaggggtcatcgtctttc	9	11	12	9	2	3	0	2	0	1	0	6	2	4	1	1	4	0	1	1	4	2	3			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr9:124752018C>A	ENST00000321582.5	-	4	1182	c.995G>T	c.(994-996)tGg>tTg	p.W332L	TTLL11_ENST00000474723.1_5'UTR|TTLL11_ENST00000373776.3_Missense_Mutation_p.W332L	NM_001139442.1	NP_001132914.1	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	332	TTL.				protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity	p.W332L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						AGTGGGCTTCCAGGAGGGGTC	0.512													66	240					4.60868e-44	5.53042e-44	1	1	0	A	124752018	C	A	124752018	3	1	59	1	0	0	0	0	1	0	0	0	16786	595	21	4	1509	4	TTLL11	9	124752018	Missense_Mutation	SNP	C	TCGA-EJ-5524-01A-01D-1576-08	30265967	124752018	16461413	22	3036											
PLAU	5328	broad.mit.edu	37	chr10	75673298	75673298	+	Splice_Site	DEL	A	A	-																															ccctctgtttgtcctccaggAaaaaagccctcctctcctcc																										TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr10:75673298delA	ENST00000446342.1	+	6	893	c.409_splice	c.e6-1	p.G137_splice	C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000372764.3_Splice_Site_p.G154_splice|PLAU_ENST00000372762.4_Splice_Site_p.G118_splice|PLAU_ENST00000494287.1_3'UTR|C10orf55_ENST00000409178.1_Intron	NM_001145031.1	NP_001138503.1	P00749	UROK_HUMAN	plasminogen activator, urokinase	154	Kringle.				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16	Prostate(51;0.0112)				Amiloride(DB00594)|Urokinase(DB00013)	GTCCTCCAGGAAAAAAGCCCT	0.517													7	790	---	---	---	---						-	75673298	A	-	75673298	8	5	59	1	0	1	0	1	0	0	1	0	12070	260	9	0	522	0	PLAU	10	75673298	Splice_Site	DEL	A	TCGA-EJ-5524-01A-01D-1576-08		75673298	59861449	23	3037											
MKI67	4288	broad.mit.edu	37	chr10	129900972	129900972	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttctcttcatgatgaccacGggttcggatgatttgcctct	6	15	9	11	2	3	3	1	3	2	0	5	4	3	4	2	2	1	1	2	2	0	4			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr10:129900972G>C	ENST00000368654.3	-	13	9507	c.9132C>G	c.(9130-9132)ccC>ccG	p.P3044P	MKI67_ENST00000368653.3_Silent_p.P2684P	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	3044					cell proliferation	nucleolus	ATP binding|protein C-terminus binding	p.P3044P(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TGATGACCACGGGTTCGGATG	0.517													10	296					0	0	1	0	0	C	129900972	G	C	129900972	2	2	59	1	0	0	0	0	0	0	0	1	9646	1103	39	4		4	MKI67	10	129900972	Silent	SNP	G	TCGA-EJ-5524-01A-01D-1576-08	54227674	129900972	5633775	24	3038											
SSSCA1	10534	broad.mit.edu	37	chr11	65339161	65339161	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctgtgtggccttatccgcGcatgtgcggaggccctgcgc	4	9	15	13	4	0	0	0	0	0	0	1	1	1	1	3	3	3	2	3	3	1	1			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr11:65339161G>A	ENST00000531405.1	+	3	681	c.445G>A	c.(445-447)Gca>Aca	p.A149T	SSSCA1_ENST00000309328.3_Missense_Mutation_p.A186T|SSSCA1_ENST00000527920.1_Intron|SSSCA1_ENST00000526877.1_3'UTR			O60232	SSA27_HUMAN	Sjogren syndrome/scleroderma autoantigen 1	186					cell division|mitosis		protein binding	p.A186T(1)		kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8						CCTTATCCGCGCATGTGCGGA	0.572													3	48					0	0	1	0	0	A	65339161	G	A	65339161	3	1	59	1	0	0	0	0	1	0	0	0	15251	1087	38	1	570	1	SSSCA1	11	65339161	Missense_Mutation	SNP	G	TCGA-EJ-5524-01A-01D-1576-08		65339161	69667355	25	3039											
EED	8726	broad.mit.edu	37	chr11	85968564	85968564	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaatttattgtagcactatgTtggccatggaaatgctatca	13	14	8	6	0	1	0	1	0	0	0	1	1	1	1	1	2	2	4	1	2	6	7			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr11:85968564T>G	ENST00000263360.6	+	6	1246	c.560T>G	c.(559-561)gTt>gGt	p.V187G	EED_ENST00000351625.6_Missense_Mutation_p.V187G|EED_ENST00000528180.1_Missense_Mutation_p.V187G|EED_ENST00000327320.4_Missense_Mutation_p.V187G	NM_003797.3	NP_003788.2	O75530	EED_HUMAN	embryonic ectoderm development	187	Interaction with EZH2 (By similarity).|Required for interaction with the matrix protein MA of HIV-1.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding	p.V187G(1)		haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				TAGCACTATGTTGGCCATGGA	0.303													4	90					0	0	1	0	0	G	85968564	T	G	85968564	3	3	59	1	0	0	0	0	1	0	0	0	4948	1725	60	5	582	5	EED	11	85968564	Missense_Mutation	SNP	T	TCGA-EJ-5524-01A-01D-1576-08	20629403	85968564	49037952	26	3040											
C12orf77	196415	broad.mit.edu	37	chr12	25148935	25148935	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atccatcgtatgctgtccagCgtctgcacgttcccttgttt	5	15	8	13	3	1	0	0	0	1	0	5	0	4	0	3	0	3	5	3	0	1	4			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr12:25148935C>T	ENST00000549828.1	-	3	417	c.213G>A	c.(211-213)acG>acA	p.T71T	C12orf77_ENST00000434912.3_Silent_p.T16T|C12orf77_ENST00000549262.1_Silent_p.T16T	NM_001101339.1	NP_001094809.1	C9JDV5	CL097_HUMAN	chromosome 12 open reading frame 77	71								p.T71T(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						TGCTGTCCAGCGTCTGCACGT	0.478													29	55					0	0	1	0	0	T	25148935	C	T	25148935	2	4	59	1	0	0	0	0	0	0	0	1	1722	755	27	1		1	C12orf77	12	25148935	Silent	SNP	C	TCGA-EJ-5524-01A-01D-1576-08		25148935	108702960	27	3041											
PKP2	5318	broad.mit.edu	37	chr12	32975445	32975445	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaaaacatccaatactttTgttgttgtcagtctggatat	11	15	7	8	0	2	0	1	0	1	0	3	1	3	1	2	1	2	2	2	1	5	6			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr12:32975445T>C	ENST00000340811.4	-	8	1903	c.1795A>G	c.(1795-1797)Aaa>Gaa	p.K599E	PKP2_ENST00000070846.6_Missense_Mutation_p.K643E	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	643					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	p.K643E(1)		NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CCAATACTTTTGTTGTTGTCA	0.403													11	125					0	0	1	0	0	C	32975445	T	C	32975445	3	2	59	1	0	0	0	0	1	0	0	0	12033	1821	63	3	742	3	PKP2	12	32975445	Missense_Mutation	SNP	T	TCGA-EJ-5524-01A-01D-1576-08	7826510	32975445	100876450	28	3042											
DNAH10	196385	broad.mit.edu	37	chr12	124395093	124395093	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcacgttaggcctcttgaaGactcttaataccacaactga	12	12	6	11	1	3	3	1	2	2	1	3	3	3	3	2	1	2	1	2	1	5	5			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr12:124395093G>A	ENST00000409039.3	+	58	9679	c.9654G>A	c.(9652-9654)aaG>aaA	p.K3218K		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3218	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.K1810K(1)|p.K3218K(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GCCTCTTGAAGACTCTTAATA	0.388													12	219					0	0	1	0	0	A	124395093	G	A	124395093	2	1	59	1	0	0	0	0	0	0	0	1	4626	933	33	2		2	DNAH10	12	124395093	Silent	SNP	G	TCGA-EJ-5524-01A-01D-1576-08	91419648	124395093	9456802	29	3043											
NIN	51199	broad.mit.edu	37	chr14	51223295	51223295	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctcttcctccttttctcCgtgagaaagtacatcttttt	7	17	5	12	1	3	1	0	1	3	1	6	2	5	1	3	0	2	2	3	0	2	6			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr14:51223295C>T	ENST00000245441.5	-	18	4643	c.4453G>A	c.(4453-4455)Gga>Aga	p.G1485R	NIN_ENST00000530997.2_Missense_Mutation_p.G1485R|NIN_ENST00000324330.9_Missense_Mutation_p.G1485R|NIN_ENST00000453196.1_Missense_Mutation_p.G1485R|NIN_ENST00000382043.4_Intron|NIN_ENST00000389868.3_Intron|NIN_ENST00000382041.3_Missense_Mutation_p.G1485R	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1485					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	p.G1491R(1)|p.G1485R(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					tccttttctccgtgagaaagt	0.413			T	PDGFRB	MPD								4	59					0	0	1	0	0	T	51223295	C	T	51223295	3	4	59	1	0	0	0	0	1	0	0	0	10464	661	23	1	2152	1	NIN	14	51223295	Missense_Mutation	SNP	C	TCGA-EJ-5524-01A-01D-1576-08		51223295	56126245	30	3044											
SLC8A3	6547	broad.mit.edu	37	chr14	70634187	70634187	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcagatccttgagaatcCggatcatctctctgcgggac	8	11	10	12	2	4	2	2	1	2	2	7	5	6	4	2	2	1	1	2	2	1	2			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr14:70634187C>T	ENST00000381269.2	-	2	1706	c.953G>A	c.(952-954)cGg>cAg	p.R318Q	SLC8A3_ENST00000528359.1_Missense_Mutation_p.R318Q|SLC8A3_ENST00000534137.1_Missense_Mutation_p.R318Q|SLC8A3_ENST00000356921.2_Missense_Mutation_p.R318Q|SLC8A3_ENST00000357887.3_Missense_Mutation_p.R318Q	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	318					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	p.R318Q(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CTTGAGAATCCGGATCATCTC	0.483													6	170					0	0	1	0	0	T	70634187	C	T	70634187	3	4	59	1	0	0	0	0	1	0	0	0	14763	652	23	1	1969	1	SLC8A3	14	70634187	Missense_Mutation	SNP	C	TCGA-EJ-5524-01A-01D-1576-08	19410892	70634187	36715353	31	3045											
ASPG	374569	broad.mit.edu	37	chr14	104552115	104552115	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccggtccggcatggcgcGcgcggtggggcccgagcgga	3	4	19	15	8	0	0	0	0	0	0	2	2	2	1	4	7	1	1	4	7	0	0			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr14:104552115G>A	ENST00000551177.1	+	1	100	c.8G>A	c.(7-9)cGc>cAc	p.R3H	ASPG_ENST00000546892.2_Missense_Mutation_p.R3H|ASPG_ENST00000455920.2_Missense_Mutation_p.R3H	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase homolog (S. cerevisiae)	3					lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity	p.R3H(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						GGCATGGCGCGCGCGGTGGGG	0.761													4	2					0	0	1	0	0	A	104552115	G	A	104552115	3	1	59	1	0	0	0	0	1	0	0	0	1051	1087	38	1	10	1	ASPG	14	104552115	Missense_Mutation	SNP	G	TCGA-EJ-5524-01A-01D-1576-08	33917928	104552115	2797425	32	3046											
ARHGAP11A	9824	broad.mit.edu	37	chr15	32920998	32921007	+	Splice_Site	DEL	GAATTGGTAG	GAATTGGTAG	-																															tattacacctcaagaagaaaGaattggtaggtatttattat																										TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr15:32920998_32921007delGAATTGGTAG	ENST00000361627.3	+	7	1654_1659	c.937_splice	c.e7+1	p.S311_splice	ARHGAP11A_ENST00000563864.1_Splice_Site_p.S311_splice|ARHGAP11A_ENST00000543522.1_Splice_Site_p.S122_splice|ARHGAP11A_ENST00000565905.1_Splice_Site_p.S122_splice|ARHGAP11A_ENST00000567348.1_Splice_Site_p.S311_splice	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	311					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.A313P(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		CAAGAAGAAAGAATTGGTAGGTATTTATTA	0.238													13	141	---	---	---	---						-	32921007	GAATTGGTAG	-	32920998	8	5	59	1	0	1	0	1	0	0	1	0	860	942	33	0	958	0	ARHGAP11A	15	32920998	Splice_Site	DEL	GAATTGGTAG	TCGA-EJ-5524-01A-01D-1576-08		32920998	69610394	33	3047											
TYRO3	7301	broad.mit.edu	37	chr15	41860444	41860444	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgctccccaaaacctccatGccatccgcacagattcaggc	10	6	7	18	2	1	1	1	0	0	1	4	1	4	1	6	1	2	2	6	1	2	1			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr15:41860444G>A	ENST00000263798.3	+	8	1215	c.991G>A	c.(991-993)Gcc>Acc	p.A331T	TYRO3_ENST00000559066.1_Missense_Mutation_p.A286T	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	331	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.A331T(1)|p.A323T(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		AAACCTCCATGCCATCCGCAC	0.572													17	74					0	0	1	0	0	A	41860444	G	A	41860444	3	1	59	1	0	0	0	0	1	0	0	0	16876	1319	46	2	1021	2	TYRO3	15	41860444	Missense_Mutation	SNP	G	TCGA-EJ-5524-01A-01D-1576-08	8939446	41860444	60670948	34	3048											
ATP8B4	79895	broad.mit.edu	37	chr15	50193367	50193368	+	Frame_Shift_Ins	INS	-	-	T																															aatccaactccagctgctgcINStttttttcacaaactacatg																										TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr15:50193367_50193368insT	ENST00000284509.6	-	21	2351_2352	c.2210_2211insA	c.(2209-2211)acafs	p.T737fs	ATP8B4_ENST00000559829.1_Frame_Shift_Ins_p.T737fs	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	737					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CCAGCTGCTGCTTTTTTTCACA	0.361													7	177	---	---	---	---						T	50193368	-	T	50193367	7	5	59	1	0	1	1	0	0	0	0	0	1195	796	28	0	1399	0	ATP8B4	15	50193367	Frame_Shift_Ins	INS	-	TCGA-EJ-5524-01A-01D-1576-08	8332923	50193367	52338025	35	3049											
SMAD3	4088	broad.mit.edu	37	chr15	67477178	67477178	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcgctatggctggcacccgGccaccgtctgcaagatccca	8	6	11	16	3	1	1	0	0	1	1	2	1	2	1	4	3	2	4	4	3	2	1			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr15:67477178G>T	ENST00000327367.4	+	7	1295	c.985G>T	c.(985-987)Gcc>Tcc	p.A329S	SMAD3_ENST00000439724.3_Missense_Mutation_p.A285S|SMAD3_ENST00000537194.2_Missense_Mutation_p.A134S|SMAD3_ENST00000540846.2_Missense_Mutation_p.A224S	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	329	MH2.				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding	p.A329S(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		CTGGCACCCGGCCACCGTCTG	0.597													7	36					5.18039e-06	5.26819e-06	1	1	0	T	67477178	G	T	67477178	3	4	59	1	0	0	0	0	1	0	0	0	14813	1203	42	4	1089	4	SMAD3	15	67477178	Missense_Mutation	SNP	G	TCGA-EJ-5524-01A-01D-1576-08	17283811	67477178	35054214	36	3050											
CHD2	1106	broad.mit.edu	37	chr15	93524064	93524064	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctcaaatccttttaataaaGaagagctgacagctattttg	14	13	7	7	0	1	3	1	1	0	2	2	3	2	3	1	0	2	3	1	0	6	6			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr15:93524064G>C	ENST00000394196.4	+	23	3964	c.2896G>C	c.(2896-2898)Gaa>Caa	p.E966Q	CHD2_ENST00000557381.1_Missense_Mutation_p.E966Q	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	966	Glu-rich.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	p.E966Q(2)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TTTTAATAAAGAAGAGCTGAC	0.368													12	105					0	0	1	0	0	C	93524064	G	C	93524064	3	2	59	1	0	0	0	0	1	0	0	0	3347	943	33	4	2986	4	CHD2	15	93524064	Missense_Mutation	SNP	G	TCGA-EJ-5524-01A-01D-1576-08	26046886	93524064	9007328	37	3051											
SMARCE1	6605	broad.mit.edu	37	chr17	38792754	38792754	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacaactttaggtcagggtTggaagcctttacttggtccc	8	12	10	11	0	1	0	1	0	0	0	2	1	2	1	3	4	3	1	3	4	4	6			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr17:38792754T>C	ENST00000348513.6	-	6	1042	c.262A>G	c.(262-264)Aac>Gac	p.N88D	SMARCE1_ENST00000431889.2_Missense_Mutation_p.N70D|SMARCE1_ENST00000400122.3_Missense_Mutation_p.N18D|SMARCE1_ENST00000377808.4_Missense_Mutation_p.N53D|SMARCE1_ENST00000580419.1_Missense_Mutation_p.N53D|KRT222_ENST00000476049.1_3'UTR|SMARCE1_ENST00000578044.1_Missense_Mutation_p.N18D|SMARCE1_ENST00000544009.1_Missense_Mutation_p.N18D	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1	88					chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex	chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity	p.N88D(1)		large_intestine(1)	1		Breast(137;0.000812)				AGGTCAGGGTTGGAAGCCTTT	0.363													68	179					0	0	1	0	0	C	38792754	T	C	38792754	3	2	59	1	0	0	0	0	1	0	0	0	14834	1812	63	3	997	3	SMARCE1	17	38792754	Missense_Mutation	SNP	T	TCGA-EJ-5524-01A-01D-1576-08		38792754	42402456	38	3052											
NAGS	162417	broad.mit.edu	37	chr17	42085837	42085837	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttcaaacacagtgatggCagcttctccaacaagcagtg	13	9	8	11	0	2	1	1	1	1	0	3	1	2	1	1	1	5	3	1	1	4	3			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr17:42085837C>T	ENST00000293404.3	+	7	1591	c.1473C>T	c.(1471-1473)ggC>ggT	p.G491G		NM_153006.2	NP_694551.1	Q8N159	NAGS_HUMAN	N-acetylglutamate synthase	491	N-acetyltransferase.				arginine biosynthetic process|urea cycle	mitochondrial matrix	acetyl-CoA:L-glutamate N-acetyltransferase activity	p.G491G(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8		Breast(137;0.00536)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.113)	L-Glutamic Acid(DB00142)	ACAGTGATGGCAGCTTCTCCA	0.498													27	320					0	0	1	0	0	T	42085837	C	T	42085837	2	4	59	1	0	0	0	0	0	0	0	1	10193	697	25	2		2	NAGS	17	42085837	Silent	SNP	C	TCGA-EJ-5524-01A-01D-1576-08	3293083	42085837	39109373	39	3053											
DDX42	11325	broad.mit.edu	37	chr17	61864525	61864525	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acagcagtcccacagtgcctTtggggcaaccagctcttctt	8	10	9	14	0	2	0	0	0	2	0	3	0	3	0	3	2	4	3	3	2	1	3			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr17:61864525T>C	ENST00000578681.1	+	3	717	c.116T>C	c.(115-117)tTt>tCt	p.F39S	DDX42_ENST00000389924.2_Missense_Mutation_p.F39S|DDX42_ENST00000359353.5_Intron|DDX42_ENST00000583590.1_Missense_Mutation_p.F39S|DDX42_ENST00000457800.2_Missense_Mutation_p.F39S	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	39					protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	p.F39S(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						CACAGTGCCTTTGGGGCAACC	0.502													15	222					0	0	1	0	0	C	61864525	T	C	61864525	3	2	59	1	0	0	0	0	1	0	0	0	4385	1841	64	3	118	3	DDX42	17	61864525	Missense_Mutation	SNP	T	TCGA-EJ-5524-01A-01D-1576-08	19778688	61864525	19330685	40	3054											
RECQL5	9400	broad.mit.edu	37	chr17	73627745	73627745	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttggcaatggcggcatggcgGcacctggagcaggcagcacc	8	5	16	12	2	0	0	0	0	0	0	0	1	0	1	2	7	2	6	2	7	1	1			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr17:73627745G>A	ENST00000317905.5	-	9	1392	c.1233C>T	c.(1231-1233)tgC>tgT	p.C411C	RECQL5_ENST00000443199.2_5'UTR|RECQL5_ENST00000423245.2_Silent_p.C384C	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	411					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding	p.C384C(1)		breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			CGGCATGGCGGCACCTGGAGC	0.692								Other identified genes with known or suspected DNA repair function					3	38					0	0	1	0	0	A	73627745	G	A	73627745	2	1	59	1	0	0	0	0	0	0	0	1	13255	1195	42	2		2	RECQL5	17	73627745	Silent	SNP	G	TCGA-EJ-5524-01A-01D-1576-08	11763220	73627745	7567465	41	3055											
WDR7	23335	broad.mit.edu	37	chr18	54591238	54591238	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgaagaacagccattgatctGattggacgtgggttcactgt	10	11	12	8	2	2	3	1	2	1	1	2	5	2	4	1	2	2	1	1	2	2	3	rs149456946	byFrequency	TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr18:54591238G>A	ENST00000254442.3	+	22	3823	c.3612G>A	c.(3610-3612)ctG>ctA	p.L1204L	WDR7_ENST00000357574.3_Silent_p.L1171L|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1204								p.L1204L(1)		NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		CCATTGATCTGATTGGACGTG	0.498													10	122					0	0	1	0	0	A	54591238	G	A	54591238	2	1	59	1	0	0	0	0	0	0	0	1	17380	1277	45	2		2	WDR7	18	54591238	Silent	SNP	G	TCGA-EJ-5524-01A-01D-1576-08		54591238	23486010	42	3056											
MUC16	94025	broad.mit.edu	37	chr19	9056757	9056757	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tagatggagaagcattaaagGgggtgattatgtccactgga	13	10	14	4	0	0	3	0	1	0	2	1	5	1	4	1	4	1	1	1	4	5	3			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr19:9056757G>T	ENST00000397910.4	-	3	30892	c.30689C>A	c.(30688-30690)cCc>cAc	p.P10230H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10232	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P5863H(1)|p.P10230H(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGCATTAAAGGGGGTGATTAT	0.448													10	94					7.48243e-07	7.74044e-07	1	1	0	T	9056757	G	T	9056757	3	4	59	1	0	0	0	0	1	0	0	0	10021	1232	43	4	13162	4	MUC16	19	9056757	Missense_Mutation	SNP	G	TCGA-EJ-5524-01A-01D-1576-08		9056757	50072226	43	3057											
ZNF99	7652	broad.mit.edu	37	chr19	22940066	22940066	+	Frame_Shift_Del	DEL	A	A	-																															ctaagggttgaggaattgttAaaagctttgccacattcttc																										TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr19:22940066delA	ENST00000397104.3	-	6	2264	c.2265delT	c.(2263-2265)ttfs	p.F755fs						zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AGGAATTGTTAAAAGCTTTGC	0.358													31	156	---	---	---	---						-	22940066	A	-	22940066	7	5	59	1	0	1	0	1	0	0	0	0	18246	359	13	0	855	0	ZNF99	19	22940066	Frame_Shift_Del	DEL	A	TCGA-EJ-5524-01A-01D-1576-08	13883309	22940066	36188917	44	3058											
FPR1	2357	broad.mit.edu	37	chr19	52249334	52249334	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcctctcccggaagtcctggCccatgaagacatagagcatg	10	7	11	13	1	1	3	0	1	1	2	3	4	2	4	4	2	1	1	4	2	3	1			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr19:52249334C>A	ENST00000595042.1	-	3	1055	c.914G>T	c.(913-915)gGc>gTc	p.G305V	FPR1_ENST00000304748.4_Missense_Mutation_p.G305V	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	305					activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity	p.G305V(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	GAAGTCCTGGCCCATGAAGAC	0.547													26	86					7.92952e-12	8.81058e-12	1	1	0	A	52249334	C	A	52249334	3	1	59	1	0	0	0	0	1	0	0	0	6072	739	26	4	142	4	FPR1	19	52249334	Missense_Mutation	SNP	C	TCGA-EJ-5524-01A-01D-1576-08	29309268	52249334	6879649	45	3059											
MX2	4600	broad.mit.edu	37	chr21	42762561	42762561	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtggtggttccctgtaacGtggacattgccaccacggag	7	10	14	10	2	0	0	0	0	0	0	1	2	1	2	3	5	2	2	3	5	1	3			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chr21:42762561G>A	ENST00000330714.3	+	6	986	c.802G>A	c.(802-804)Gtg>Atg	p.V268M	MX2_ENST00000543692.1_Intron	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	myxovirus (influenza virus) resistance 2 (mouse)	268					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity	p.V268M(1)		breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				TCCCTGTAACGTGGACATTGC	0.557													78	78					0	0	1	0	0	A	42762561	G	A	42762561	3	1	59	1	0	0	0	0	1	0	0	0	10046	1145	40	1	820	1	MX2	21	42762561	Missense_Mutation	SNP	G	TCGA-EJ-5524-01A-01D-1576-08		42762561	5367334	46	3060											
GPR112	139378	broad.mit.edu	37	chrX	135431329	135431329	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atacccctgtttcataccctCcatggaccccatccagtgca	9	10	5	17	0	1	0	1	0	0	0	3	1	3	1	7	1	3	2	7	1	2	3			TCGA-EJ-5524-01A-01D-1576-08	TCGA-EJ-5524-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661	75bec014-53c0-49e0-88d8-fcd261d22ec1	g.chrX:135431329C>A	ENST00000394143.1	+	6	5755	c.5464C>A	c.(5464-5466)Cca>Aca	p.P1822T	GPR112_ENST00000370652.1_Missense_Mutation_p.P1822T|GPR112_ENST00000287534.4_Missense_Mutation_p.P1759T|GPR112_ENST00000412101.1_Missense_Mutation_p.P1617T|GPR112_ENST00000394141.1_Missense_Mutation_p.P1617T	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1822					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P1822T(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TTCATACCCTCCATGGACCCC	0.408													15	143					2.32078e-09	2.44293e-09	1	1	0	A	135431329	C	A	135431329	3	1	59	1	0	0	0	0	1	0	0	0	6669	855	30	4	5474	4	GPR112	23	135431329	Missense_Mutation	SNP	C	TCGA-EJ-5524-01A-01D-1576-08		135431329	19839231	47	3061											
ATG4C	84938	broad.mit.edu	37	chr1	63307165	63307165	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcccagctgtacaataggaTtttactgtcgaaatgttcag	12	13	8	8	1	1	0	1	0	0	0	3	2	2	1	1	1	3	3	1	1	5	5			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr1:63307165T>C	ENST00000317868.4	+	10	1363	c.1156T>C	c.(1156-1158)Ttt>Ctt	p.F386L	ATG4C_ENST00000371120.3_Missense_Mutation_p.F386L	NM_032852.3	NP_116241.2	Q96DT6	ATG4C_HUMAN	autophagy related 4C, cysteine peptidase	386					autophagic vacuole assembly|protein targeting to membrane|proteolysis	cytosol|extracellular region	cysteine-type endopeptidase activity	p.F386L(2)	ATG4C/FBXO38(2)	NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(3)|ovary(1)|prostate(2)	19						TACAATAGGATTTTACTGTCG	0.303													4	137					0	0	0.184627	0	0	C	63307165	T	C	63307165	3	2	60	1	0	0	0	0	1	0	0	0	1097	1493	52	3	1190	3	ATG4C	1	63307165	Missense_Mutation	SNP	T	TCGA-EJ-5525-01A-01D-1576-08		63307165	185943456	1	3062											
DEPDC1	55635	broad.mit.edu	37	chr1	68947728	68947728	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cattgaaagcaacagccttaCtttgtgtgccagtcaacata	13	11	7	10	0	1	1	1	1	0	0	1	1	1	1	2	0	6	1	2	0	5	4			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr1:68947728C>A	ENST00000456315.2	-	8	1877		c.e8+1		DEPDC1_ENST00000370966.5_Intron|RP4-694A7.2_ENST00000425820.1_RNA	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1						intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding	p.?(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		AACAGCCTTACTTTGTGTGCC	0.353													87	111					1.5608e-48	1.82407e-48	0.870114	1	0	A	68947728	C	A	68947728	5	1	60	1	0	0	0	0	0	0	1	0	4467	579	20	4	692	4	DEPDC1	1	68947728	Splice_Site	SNP	C	TCGA-EJ-5525-01A-01D-1576-08	5640563	68947728	180302893	2	3063											
DNASE2B	58511	broad.mit.edu	37	chr1	84867590	84867590	+	Frame_Shift_Del	DEL	T	T	-																															attttgtctgttaggtttacTttttataagttacctaaaag																										TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr1:84867590delT	ENST00000370665.3	+	2	165	c.132delT	c.(130-132)acfs	p.T44fs		NM_021233.2	NP_067056.2	Q8WZ79	DNS2B_HUMAN	deoxyribonuclease II beta	44					DNA metabolic process	lysosome	deoxyribonuclease II activity			endometrium(1)|lung(4)|skin(1)	6				all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)		TTAGGTTTACTTTTTATAAGT	0.348													4	7	---	---	---	---						-	84867590	T	-	84867590	7	5	60	1	0	1	0	1	0	0	0	0	4692	1596	56	0	138	0	DNASE2B	1	84867590	Frame_Shift_Del	DEL	T	TCGA-EJ-5525-01A-01D-1576-08	15919862	84867590	164383031	3	3064											
TGFBR3	7049	broad.mit.edu	37	chr1	92185486	92185486	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctacagccacgatcatcttCtcattgtcacatttgacaga	11	13	5	12	1	5	2	3	1	3	1	6	3	5	2	1	0	2	0	1	0	1	4			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr1:92185486C>T	ENST00000212355.4	-	9	1842	c.1377G>A	c.(1375-1377)gaG>gaA	p.E459E	TGFBR3_ENST00000370399.2_Silent_p.E458E|TGFBR3_ENST00000525962.1_Silent_p.E459E	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	459	ZP.				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding	p.E459E(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		CGATCATCTTCTCATTGTCAC	0.502													7	221					0	0	0.27861	0	0	T	92185486	C	T	92185486	2	4	60	1	0	0	0	0	0	0	0	1	15883	912	32	2		2	TGFBR3	1	92185486	Silent	SNP	C	TCGA-EJ-5525-01A-01D-1576-08	7317896	92185486	157065135	4	3065											
REG4	83998	broad.mit.edu	37	chr1	120342381	120342381	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggccaatccatatcggCtggcttctctgatagccact	8	11	9	13	1	1	1	0	1	1	0	4	1	2	1	3	3	2	3	3	3	3	3			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr1:120342381C>T	ENST00000354219.1	-	5	709	c.270G>A	c.(268-270)caG>caA	p.Q90Q	REG4_ENST00000256585.5_Silent_p.Q90Q|REG4_ENST00000530654.1_Silent_p.Q90Q	NM_001159352.1	NP_001152824.1	Q9BYZ8	REG4_HUMAN	regenerating islet-derived family, member 4	90	C-type lectin.					extracellular region	sugar binding	p.Q90Q(1)		central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(2)|prostate(1)|skin(2)	15	all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588)		TCCATATCGGCTGGCTTCTCT	0.522													20	322					0	0	0.592651	0	0	T	120342381	C	T	120342381	2	4	60	1	0	0	0	0	0	0	0	1	13266	796	28	2		2	REG4	1	120342381	Silent	SNP	C	TCGA-EJ-5525-01A-01D-1576-08	28156895	120342381	128908240	5	3066											
PDE4DIP	9659	broad.mit.edu	37	chr1	144856960	144856961	+	In_Frame_Ins	INS	-	-	TTT																															caatgacatggcggccatgcINSttattggcaaaggagccatc																										TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr1:144856960_144856961insTTT	ENST00000369359.4	-	43	6970_6971	c.6932_6933insAAA	c.(6931-6933)aca>aAAAca	p.2311_2312insK	PDE4DIP_ENST00000530740.1_In_Frame_Ins_p.2260_2261insK|PDE4DIP_ENST00000369356.4_In_Frame_Ins_p.2175_2176insK|PDE4DIP_ENST00000313382.9_In_Frame_Ins_p.2069_2070insK|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369354.3_In_Frame_Ins_p.2175_2176insK			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2175					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GGCGGCCATGCTTATTGGCAAA	0.48			T	PDGFRB	MPD								17	134	---	---	---	---						TTT	144856961	-	TTT	144856960	7	5	60	1	0	1	1	0	0	0	0	0	11690	796	28	0	535	0	PDE4DIP	1	144856960	In_Frame_Ins	INS	-	TCGA-EJ-5525-01A-01D-1576-08	24514579	144856960	104393661	6	3067											
SEC22B	9554	broad.mit.edu	37	chr1	145109975	145109976	+	RNA	INS	-	-	C																															cacatgtgacaggaactttgINSctaaagatctacttgattgg																								rs67257307		TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr1:145109975_145109976insC	ENST00000453618.1	+	0	673							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										CAGGAACTTTGCTAAAGATCTA	0.386													3	6	---	---	---	---						C	145109976	-	C	145109975	6	5	60	0	1	1	1	0	0	0	0	0	14043	1334	46	0		0	SEC22B	1	145109975	RNA	INS	-	TCGA-EJ-5525-01A-01D-1576-08	253015	145109975	104140646	7	3068											
PGLYRP3	114771	broad.mit.edu	37	chr1	153274900	153274900	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttactgatatccaatgtcaCaaaagttccgtgtgtccatg	11	13	7	10	1	1	1	1	1	0	0	4	1	4	1	3	0	1	1	3	0	5	3			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr1:153274900C>A	ENST00000290722.1	-	5	765	c.713G>T	c.(712-714)tGt>tTt	p.C238F		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	238					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	p.C238F(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCCAATGTCACAAAAGTTCCG	0.473													104	469					5.77035e-48	6.66338e-48	0.870114	1	0	A	153274900	C	A	153274900	3	1	60	1	0	0	0	0	1	0	0	0	11843	478	17	4	324	4	PGLYRP3	1	153274900	Missense_Mutation	SNP	C	TCGA-EJ-5525-01A-01D-1576-08	8164925	153274900	95975721	8	3069											
PM20D1	148811	broad.mit.edu	37	chr1	205817085	205817085	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agagctaaaagtcactgttgGaatctggatggcacctgtca	12	10	11	8	0	3	1	2	0	1	1	3	3	3	3	1	3	1	3	1	3	3	2			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr1:205817085G>T	ENST00000367136.4	-	2	228	c.184C>A	c.(184-186)Cca>Aca	p.P62T	PM20D1_ENST00000460624.1_5'UTR	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1	62						extracellular region	metal ion binding|peptidase activity	p.P62T(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			GTCACTGTTGGAATCTGGATG	0.408													57	84					1.74474e-33	1.96791e-33	0.870114	1	0	T	205817085	G	T	205817085	3	4	60	1	0	0	0	0	1	0	0	0	12176	1174	41	4	1372	4	PM20D1	1	205817085	Missense_Mutation	SNP	G	TCGA-EJ-5525-01A-01D-1576-08	52542185	205817085	43433536	9	3070											
ARID4B	51742	broad.mit.edu	37	chr1	235490233	235490233	+	Translation_Start_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcaggcaatcttaccttcAtgatgactctgggaccaagg	10	9	10	12	1	3	2	1	2	2	0	3	3	3	3	3	3	1	2	3	3	3	2			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr1:235490233A>C	ENST00000264183.3	-	2	499	c.2T>G	c.(1-3)aTg>aGg	p.M1R	ARID4B_ENST00000349213.3_Start_Codon_SNP_p.M1R|ARID4B_ENST00000366603.2_Start_Codon_SNP_p.M1R	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	1					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	p.M1R(1)		NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TCTTACCTTCATGATGACTCT	0.522													136	28					0	0	0.870114	0	0	C	235490233	A	C	235490233	1	2	60	1	0	0	0	0	0	0	0	0	917	217	8	5		5	ARID4B	1	235490233	Translation_Start_Site	SNP	A	TCGA-EJ-5525-01A-01D-1576-08	29673148	235490233	13760388	10	3071											
IWS1	55677	broad.mit.edu	37	chr2	128262862	128262862	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcagaatcactcattcgaGgtttgggaggctcctcattt	8	15	9	9	1	4	1	4	0	0	1	6	3	5	2	1	3	0	2	1	3	1	4			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr2:128262862G>A	ENST00000295321.4	-	3	876	c.617C>T	c.(616-618)cCt>cTt	p.P206L	IWS1_ENST00000455721.2_Missense_Mutation_p.P213L|AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000486662.1_5'UTR	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	206	Glu-rich.				transcription, DNA-dependent	nucleus	DNA binding	p.P206L(1)		cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		ACTCATTCGAGGTTTGGGAGG	0.493													101	250					0	0	0.870114	0	0	A	128262862	G	A	128262862	3	1	60	1	0	0	0	0	1	0	0	0	7975	1000	35	2	1890	2	IWS1	2	128262862	Missense_Mutation	SNP	G	TCGA-EJ-5525-01A-01D-1576-08		128262862	114936511	11	3072											
PLEKHA3	65977	broad.mit.edu	37	chr2	179358603	179358618	+	Frame_Shift_Del	DEL	CTGAAAACCAAAATGT	CTGAAAACCAAAATGT	-																															taagtgaaaccagtgaatcgCtgaaaaccaaaatgtctgaa																										TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr2:179358603_179358618delCTGAAAACCAAAATGT	ENST00000234453.4	+	4	739_754	c.337_352delCTGAAAACCAAAATGT	c.(337-354)ctfs	p.LKTKMS113fs	PLEKHA3_ENST00000461474.1_3'UTR	NM_019091.3	NP_061964.3	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3	113						cytoplasm|membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			CAGTGAATCGCTGAAAACCAAAATGTCTGAACTTCG	0.333													34	81	---	---	---	---						-	179358618	CTGAAAACCAAAATGT	-	179358603	7	5	60	1	0	1	0	1	0	0	0	0	12105	796	28	0	351	0	PLEKHA3	2	179358603	Frame_Shift_Del	DEL	CTGAAAACCAAAATGT	TCGA-EJ-5525-01A-01D-1576-08	51095741	179358603	63840770	12	3073											
KIF1A	547	broad.mit.edu	37	chr2	241658536	241658536	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgtaggcataggggcgccGcaccaccacgaagcgcctgg	9	4	14	14	4	0	0	0	0	0	0	0	1	0	0	4	4	1	3	4	4	3	2			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr2:241658536G>A	ENST00000498729.2	-	47	5347	c.5101C>T	c.(5101-5103)Cgg>Tgg	p.R1701W	KIF1A_ENST00000320389.7_Missense_Mutation_p.R1600W	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	1600					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	p.R1600W(1)		NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TAGGGGCGCCGCACCACCACG	0.622													51	192					0	0	0.870114	0	0	A	241658536	G	A	241658536	3	1	60	1	0	0	0	0	1	0	0	0	8325	1086	38	1	286	1	KIF1A	2	241658536	Missense_Mutation	SNP	G	TCGA-EJ-5525-01A-01D-1576-08	62299933	241658536	1540837	13	3074											
NR1D2	9975	broad.mit.edu	37	chr3	24001168	24001168	+	Frame_Shift_Del	DEL	T	T	-																															tcctttgttcttagggtttcTttcggagaagtattcaacaa																										TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr3:24001168delT	ENST00000312521.4	+	4	698	c.379delT	c.(379-381)ttfs	p.F127fs	NR1D2_ENST00000492552.1_3'UTR	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117.3	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	127					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						TTAGGGTTTCTTTCGGAGAAG	0.358													82	127	---	---	---	---						-	24001168	T	-	24001168	7	5	60	1	0	1	0	1	0	0	0	0	10664	1609	56	0	393	0	NR1D2	3	24001168	Frame_Shift_Del	DEL	T	TCGA-EJ-5525-01A-01D-1576-08		24001168	174021262	14	3075											
CTNNB1	1499	broad.mit.edu	37	chr3	41266097	41266097	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggcagcaacagtcttacctgGactctggaatccattctggt	9	11	10	11	0	3	0	0	0	3	0	4	2	4	2	2	4	3	2	2	4	3	2	rs28931588		TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr3:41266097G>C	ENST00000349496.5	+	3	374	c.94G>C	c.(94-96)Gac>Cac	p.D32H	CTNNB1_ENST00000396185.3_Missense_Mutation_p.D32H|CTNNB1_ENST00000453024.1_Missense_Mutation_p.D25H|CTNNB1_ENST00000405570.1_Missense_Mutation_p.D32H|CTNNB1_ENST00000396183.3_Missense_Mutation_p.D32H	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	32			D -> A (in hepatocellular carcinoma).|D -> G (in PTR and hepatocellular carcinoma).|D -> Y (in PTR, hepatoblastoma and hepatocellular carcinoma; dbSNP:rs28931588).|Missing (in hepatocellular carcinoma).		adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.D32Y(128)|p.D32N(82)|p.A5_A80del(53)|p.D32H(40)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.WQQQSYLD25?(5)|p.W25_D32del(4)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.S23_S33del(2)|p.V22_S33del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.Y30_S33del(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.S29_H36del(1)|p.D32del(1)|p.M14_S45del(1)|p.Q28_D32>H(1)|p.Q28fs*20(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.Y30_A97del(1)|p.W25_S33del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.Y30_A80del(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.W25_I35del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.D32fs*9(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.A5_I35del(1)|p.D32_H36del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	GTCTTACCTGGACTCTGGAAT	0.478	D32N(KE39_STOMACH)	15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of				19	31					0	0	0.575678	0	0	C	41266097	G	C	41266097	3	2	60	1	0	0	0	0	1	0	0	0	4040	1174	41	4	100	4	CTNNB1	3	41266097	Missense_Mutation	SNP	G	TCGA-EJ-5525-01A-01D-1576-08	17264929	41266097	156756333	15	3076											
CELSR3	1951	broad.mit.edu	37	chr3	48677786	48677786	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgctcacggctcagttgccGccggaggagcaggtccagct	6	7	14	14	4	2	0	2	0	0	0	4	2	3	2	3	4	3	5	3	4	0	1			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr3:48677786G>A	ENST00000544264.1	-	35	9527	c.9247C>T	c.(9247-9249)Cgg>Tgg	p.R3083W	CELSR3_ENST00000164024.4_Missense_Mutation_p.R3078W			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	3078					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	p.R3078W(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTCAGTTGCCGCCGGAGGAGC	0.647													51	81					0	0	0.870114	0	0	A	48677786	G	A	48677786	3	1	60	1	0	0	0	0	1	0	0	0	3245	1086	38	1	714	1	CELSR3	3	48677786	Missense_Mutation	SNP	G	TCGA-EJ-5525-01A-01D-1576-08	7411689	48677786	149344644	16	3077											
PIK3CA	5290	broad.mit.edu	37	chr3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctacacgagatcctctctctGaaatcactgagcaggagaaa	14	8	8	11	1	3	4	1	2	2	2	5	6	4	4	1	1	2	1	1	1	3	1	rs121913273		TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PI3K helical.		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			60	61					0	0	0.870114	0	0	A	178936082	G	A	178936082	3	1	60	1	0	0	0	0	1	0	0	0	11961	1291	45	2	1658	2	PIK3CA	3	178936082	Missense_Mutation	SNP	G	TCGA-EJ-5525-01A-01D-1576-08	130258296	178936082	19086348	17	3078											
NAAA	27163	broad.mit.edu	37	chr4	76861916	76861916	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgatgacttgcgccatcgCggcgcgcaccaagtccaagt	8	6	11	16	6	0	1	0	1	0	0	2	2	1	1	4	1	1	1	4	1	2	1			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr4:76861916C>G	ENST00000286733.4	-	1	288	c.187G>C	c.(187-189)Gcg>Ccg	p.A63P	NAAA_ENST00000507956.1_Missense_Mutation_p.A63P|NAAA_ENST00000507187.2_Missense_Mutation_p.A63P|NAAA_ENST00000399497.3_Missense_Mutation_p.A63P	NM_014435.3	NP_055250.2	Q02083	NAAA_HUMAN	N-acylethanolamine acid amidase	63					lipid metabolic process	lysosome	hydrolase activity	p.A63P(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	11						TGCGCCATCGCGGCGCGCACC	0.706													14	53					0	0	0.479597	0	0	G	76861916	C	G	76861916	3	3	60	1	0	0	0	0	1	0	0	0	10175	768	27	4	939	4	NAAA	4	76861916	Missense_Mutation	SNP	C	TCGA-EJ-5525-01A-01D-1576-08		76861916	114292360	18	3079											
MTTP	4547	broad.mit.edu	37	chr4	100534280	100534280	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtgaaaggacttattctgCtaatagatcattctcaggta	12	14	9	6	0	3	2	2	1	2	1	4	3	3	3	0	3	1	2	0	3	5	6			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr4:100534280C>A	ENST00000457717.1	+	16	2456	c.2200C>A	c.(2200-2202)Cta>Ata	p.L734I	RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000265517.5_Missense_Mutation_p.L734I|MTTP_ENST00000511045.1_Missense_Mutation_p.L761I	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	734					lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity	p.L734I(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	ACTTATTCTGCTAATAGATCA	0.408													39	34					9.45814e-24	1.04255e-23	0.804634	1	0	A	100534280	C	A	100534280	3	1	60	1	0	0	0	0	1	0	0	0	10012	796	28	4	2258	4	MTTP	4	100534280	Missense_Mutation	SNP	C	TCGA-EJ-5525-01A-01D-1576-08	23672364	100534280	90619996	19	3080											
TACR3	6870	broad.mit.edu	37	chr4	104511030	104511030	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggactccattctggtcaCggtgtacatactgctttgcc	7	13	9	12	1	2	0	1	0	1	0	3	1	3	1	2	3	4	2	2	3	2	4			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr4:104511030C>T	ENST00000304883.2	-	5	1347	c.1207G>A	c.(1207-1209)Gtg>Atg	p.V403M	RP11-297P16.3_ENST00000502936.1_RNA|RP11-297P16.3_ENST00000512401.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	403						integral to plasma membrane	tachykinin receptor activity	p.V403M(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		ATTCTGGTCACGGTGTACATA	0.498													166	232					0	0	0.870114	0	0	T	104511030	C	T	104511030	3	4	60	1	0	0	0	0	1	0	0	0	15564	536	19	1	194	1	TACR3	4	104511030	Missense_Mutation	SNP	C	TCGA-EJ-5525-01A-01D-1576-08	3976750	104511030	86643246	20	3081											
ANK2	287	broad.mit.edu	37	chr4	114186063	114186063	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctggcagcgtggtgagaCggcactacacatggcagccc	8	6	13	14	2	0	1	0	1	0	1	1	2	1	1	2	4	3	3	2	4	1	1			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr4:114186063C>T	ENST00000357077.4	+	14	1450	c.1397C>T	c.(1396-1398)aCg>aTg	p.T466M	ANK2_ENST00000506722.1_Missense_Mutation_p.T445M|ANK2_ENST00000264366.6_Missense_Mutation_p.T466M|ANK2_ENST00000394537.3_Missense_Mutation_p.T466M	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	466					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.T466M(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CGTGGTGAGACGGCACTACAC	0.517													3	5					0	0	0.115264	0	0	T	114186063	C	T	114186063	3	4	60	1	0	0	0	0	1	0	0	0	617	536	19	1	1476	1	ANK2	4	114186063	Missense_Mutation	SNP	C	TCGA-EJ-5525-01A-01D-1576-08	9675033	114186063	76968213	21	3082											
MAML3	55534	broad.mit.edu	37	chr4	141074098	141074098	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgctgctgtttgccggtGccggcgcccgatttcttggc	1	12	16	12	4	1	0	0	0	1	0	1	1	1	0	3	4	4	3	3	4	0	3			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr4:141074098G>T	ENST00000509479.2	-	1	1240	c.384C>A	c.(382-384)ggC>ggA	p.G128G		NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	128					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	p.G128G(4)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					GTTTGCCGGTGCCGGCGCCCG	0.677													5	31					0.000602214	0.000628116	0.184627	1	0	T	141074098	G	T	141074098	2	4	60	1	0	0	0	0	0	0	0	1	9257	1306	46	4		4	MAML3	4	141074098	Silent	SNP	G	TCGA-EJ-5525-01A-01D-1576-08	26888035	141074098	50080178	22	3083											
MEF2C	4208	broad.mit.edu	37	chr5	88027676	88027676	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcaagttaccaggtgagAccagcagacctggtgagttt	10	11	12	8	0	1	3	1	2	0	2	1	4	1	3	3	2	2	4	3	2	2	3			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr5:88027676A>G	ENST00000504921.2	-	7	1352	c.680T>C	c.(679-681)gTc>gCc	p.V227A	MEF2C_ENST00000514028.1_Missense_Mutation_p.V227A|MEF2C_ENST00000437473.2_Missense_Mutation_p.V227A|MEF2C_ENST00000514015.1_Missense_Mutation_p.V227A|MEF2C_ENST00000340208.5_Missense_Mutation_p.V245A|MEF2C_ENST00000508569.1_Missense_Mutation_p.V227A|MEF2C_ENST00000424173.2_Missense_Mutation_p.V225A|MEF2C_ENST00000506554.1_Missense_Mutation_p.V227A|MEF2C_ENST00000510942.1_Missense_Mutation_p.V227A|MEF2C_ENST00000539796.1_Missense_Mutation_p.V179A			Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	227					apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.V225A(1)|p.V227A(1)		breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		ACCAGGTGAGACCAGCAGACC	0.413										HNSCC(66;0.2)			28	45					0	0	0.693898	0	0	G	88027676	A	G	88027676	3	3	60	1	0	0	0	0	1	0	0	0	9507	275	10	3	761	3	MEF2C	5	88027676	Missense_Mutation	SNP	A	TCGA-EJ-5525-01A-01D-1576-08		88027676	92887584	23	3084											
AIM1	202	broad.mit.edu	37	chr6	106969054	106969054	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtacatcacactccagttTgaaaagtccaagccacatgg	15	8	7	11	0	1	1	1	1	0	0	3	1	3	1	3	1	2	2	3	1	5	2			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr6:106969054T>A	ENST00000369066.3	+	2	3234	c.2747T>A	c.(2746-2748)tTg>tAg	p.L916*		NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	916							sugar binding	p.L916*(1)		breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		CACTCCAGTTTGAAAAGTCCA	0.423													11	167					0	0	0.38729	0	0	A	106969054	T	A	106969054	4	1	60	1	0	0	0	0	0	1	0	0	427	1821	63	5	2753	5	AIM1	6	106969054	Nonsense_Mutation	SNP	T	TCGA-EJ-5525-01A-01D-1576-08		106969054	64146013	24	3085											
DCBLD1	285761	broad.mit.edu	37	chr6	117824981	117824981	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggatagtggcacaatgacatCtaagaattatcccgggacct	13	9	10	9	1	1	2	0	1	1	1	2	4	2	4	2	3	0	1	2	3	5	3			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr6:117824981C>G	ENST00000338728.5	+	2	284	c.164C>G	c.(163-165)tCt>tGt	p.S55C	DCBLD1_ENST00000368503.4_Missense_Mutation_p.S55C|GOPC_ENST00000467125.1_Intron|DCBLD1_ENST00000296955.8_Missense_Mutation_p.S55C			Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	55	CUB.				cell adhesion	integral to membrane		p.S55C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		ACAATGACATCTAAGAATTAT	0.428													65	99					0	0	0.870114	0	0	G	117824981	C	G	117824981	3	3	60	1	0	0	0	0	1	0	0	0	4303	913	32	4	170	4	DCBLD1	6	117824981	Missense_Mutation	SNP	C	TCGA-EJ-5525-01A-01D-1576-08	10855927	117824981	53290086	25	3086											
ENPP1	5167	broad.mit.edu	37	chr6	132195477	132195477	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatgtattttcaaatatgcaAgtgagtaaacctattatact	16	15	5	5	0	1	1	1	1	0	0	1	1	1	1	1	0	3	3	1	0	10	8			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr6:132195477A>G	ENST00000360971.2	+	16	1655	c.1635_splice	c.e16+1	p.Q545_splice		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	545	Phosphodiesterase.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity	p.Q493Q(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	CAAATATGCAAGTGAGTAAAC	0.279													10	252					0	0	0.361761	0	0	G	132195477	A	G	132195477	5	3	60	1	0	0	0	0	0	0	1	0	5157	86	3	3	1697	3	ENPP1	6	132195477	Splice_Site	SNP	A	TCGA-EJ-5525-01A-01D-1576-08	14370496	132195477	38919590	26	3087											
OSBPL3	26031	broad.mit.edu	37	chr7	24874112	24874112	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgactcctcaccatccttTccagggggctgggaatctgc	6	10	11	14	0	2	1	1	1	1	0	5	2	5	2	4	3	1	2	4	3	1	1			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr7:24874112T>C	ENST00000313367.2	-	15	2190	c.1739A>G	c.(1738-1740)gAa>gGa	p.E580G	OSBPL3_ENST00000353930.1_Missense_Mutation_p.E544G|OSBPL3_ENST00000409069.1_Missense_Mutation_p.E513G|OSBPL3_ENST00000431825.2_Missense_Mutation_p.E513G|OSBPL3_ENST00000396431.1_Missense_Mutation_p.E549G|OSBPL3_ENST00000352860.1_Missense_Mutation_p.E549G|OSBPL3_ENST00000396429.1_Missense_Mutation_p.E544G	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	580					lipid transport		lipid binding|protein binding	p.E580G(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						CACCATCCTTTCCAGGGGGCT	0.642													66	116					0	0	0.870114	0	0	C	24874112	T	C	24874112	3	2	60	1	0	0	0	0	1	0	0	0	11326	1783	62	3	960	3	OSBPL3	7	24874112	Missense_Mutation	SNP	T	TCGA-EJ-5525-01A-01D-1576-08		24874112	134264551	27	3088											
TNKS	8658	broad.mit.edu	37	chr8	9605603	9605603	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caacagataagtgggcgtttActcccctccatgaagcagcc	11	8	9	13	1	0	2	0	1	0	1	2	2	2	2	4	1	4	2	4	1	4	3			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr8:9605603A>T	ENST00000310430.6	+	18	2739	c.2713A>T	c.(2713-2715)Act>Tct	p.T905S	TNKS_ENST00000518281.1_Missense_Mutation_p.T668S	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	905					mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	p.T905S(3)		NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		GTGGGCGTTTACTCCCCTCCA	0.478													63	36					0	0	0.870114	0	0	T	9605603	A	T	9605603	3	4	60	1	0	0	0	0	1	0	0	0	16379	391	14	5	2783	5	TNKS	8	9605603	Missense_Mutation	SNP	A	TCGA-EJ-5525-01A-01D-1576-08		9605603	136758419	28	3089											
PRSS55	203074	broad.mit.edu	37	chr8	10388864	10388864	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aactagcccatccatggaaaTaaaggaggtcgccagcatca	15	6	9	11	1	1	0	1	0	0	0	3	2	2	2	3	3	3	1	3	3	5	2			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr8:10388864T>C	ENST00000328655.3	+	3	447	c.407T>C	c.(406-408)aTa>aCa	p.I136T	PRSS55_ENST00000522210.1_Missense_Mutation_p.I136T|PRSS51_ENST00000523024.1_RNA	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	136	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity	p.I136T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						TCCATGGAAATAAAGGAGGTC	0.517													169	63					0	0	0.870114	0	0	C	10388864	T	C	10388864	3	2	60	1	0	0	0	0	1	0	0	0	12683	1406	49	3	417	3	PRSS55	8	10388864	Missense_Mutation	SNP	T	TCGA-EJ-5525-01A-01D-1576-08	783261	10388864	135975158	29	3090											
RP1L1	94137	broad.mit.edu	37	chr8	10464916	10464916	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcctccccttcagcctccGgggtctctacgccttctggc	2	10	11	18	2	3	0	1	0	2	0	6	0	5	0	6	4	2	0	6	4	1	3			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr8:10464916G>A	ENST00000382483.3	-	4	6915	c.6692C>T	c.(6691-6693)cCg>cTg	p.P2231L		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	2231					intracellular signal transduction			p.P2231L(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TTCAGCCTCCGGGGTCTCTAC	0.612													128	52					0	0	0.870114	0	0	A	10464916	G	A	10464916	3	1	60	1	0	0	0	0	1	0	0	0	13585	1116	39	1	514	1	RP1L1	8	10464916	Missense_Mutation	SNP	G	TCGA-EJ-5525-01A-01D-1576-08	76052	10464916	135899106	30	3091											
NEFM	4741	broad.mit.edu	37	chr8	24775968	24775968	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcaccagtgaggggggagAtggtgctaccaaatacatca	14	7	12	8	0	2	2	2	1	0	1	2	3	2	2	2	4	3	1	2	4	4	2			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr8:24775968A>T	ENST00000221166.5	+	3	3382	c.2600A>T	c.(2599-2601)gAt>gTt	p.D867V	NEFM_ENST00000433454.2_Missense_Mutation_p.D491V|NEFM_ENST00000518131.1_Missense_Mutation_p.D649V|NEFM_ENST00000437366.2_Missense_Mutation_p.D828V|NEFM_ENST00000521540.1_3'UTR			P07197	NFM_HUMAN	neurofilament, medium polypeptide	867	Tail.					neurofilament	protein binding|structural constituent of cytoskeleton	p.D867V(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GAGGGGGGAGATGGTGCTACC	0.438													55	14					0	0	0.870114	0	0	T	24775968	A	T	24775968	3	4	60	1	0	0	0	0	1	0	0	0	10363	333	12	5	2610	5	NEFM	8	24775968	Missense_Mutation	SNP	A	TCGA-EJ-5525-01A-01D-1576-08	14311052	24775968	121588054	31	3092											
CYP7B1	9420	broad.mit.edu	37	chr8	65537016	65537016	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgaagtgttttcatgaacCttaaggggtcttttcgtaag	9	17	10	5	1	2	2	1	2	1	0	3	2	2	2	1	2	1	2	1	2	4	7			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr8:65537016C>A	ENST00000310193.3	-	2	376	c.203G>T	c.(202-204)aGg>aTg	p.R68M		NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	68					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity	p.R68M(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				TTTCATGAACCTTAAGGGGTC	0.383													84	383					4.92795e-40	5.62366e-40	0.870114	1	0	A	65537016	C	A	65537016	3	1	60	1	0	0	0	0	1	0	0	0	4220	681	24	4	1337	4	CYP7B1	8	65537016	Missense_Mutation	SNP	C	TCGA-EJ-5525-01A-01D-1576-08	40761048	65537016	80827006	32	3093											
CCNE2	9134	broad.mit.edu	37	chr8	95895044	95895044	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacttcaatggaggtaaaaTggcacaaggcagcagcagtc	14	6	11	10	0	1	0	1	0	0	0	2	1	1	1	1	4	2	5	1	4	4	2			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr8:95895044T>G	ENST00000520509.1	-	10	1160	c.908A>C	c.(907-909)cAt>cCt	p.H303P	CCNE2_ENST00000308108.4_Missense_Mutation_p.H303P|CCNE2_ENST00000396133.3_Missense_Mutation_p.H303P			O96020	CCNE2_HUMAN	cyclin E2	303					cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding	p.H303P(1)		cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					GGAGGTAAAATGGCACAAGGC	0.383													89	371					0	0	0.870114	0	0	G	95895044	T	G	95895044	3	3	60	1	0	0	0	0	1	0	0	0	2943	1464	51	5	318	5	CCNE2	8	95895044	Missense_Mutation	SNP	T	TCGA-EJ-5525-01A-01D-1576-08	30358028	95895044	50468978	33	3094											
TRPS1	7227	broad.mit.edu	37	chr8	116426955	116426955	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggatgaactatttcctggatCtccagtactttcctgaggac	9	13	9	10	0	1	2	0	2	1	0	4	5	3	5	3	3	2	1	3	3	3	4			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr8:116426955C>T	ENST00000395715.3	-	7	3758	c.3181G>A	c.(3181-3183)Gat>Aat	p.D1061N	TRPS1_ENST00000519076.1_Missense_Mutation_p.D802N|TRPS1_ENST00000220888.5_Missense_Mutation_p.D1048N|TRPS1_ENST00000520276.1_Missense_Mutation_p.D1052N	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	1048	Mediates interaction with RNF4 (By similarity).				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D1061N(2)|p.D1048N(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TTTCCTGGATCTCCAGTACTT	0.438									Langer-Giedion syndrome				8	519					0	0	0.307466	0	0	T	116426955	C	T	116426955	3	4	60	1	0	0	0	0	1	0	0	0	16654	913	32	2	707	2	TRPS1	8	116426955	Missense_Mutation	SNP	C	TCGA-EJ-5525-01A-01D-1576-08	20531911	116426955	29937067	34	3095											
KHDRBS3	10656	broad.mit.edu	37	chr8	136554944	136554944	+	Missense_Mutation	SNP	G	G	T																															ccacgtggcaattctctgaaGcgtttacaagaagaaacctt																										TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr8:136554944G>T	ENST00000355849.5	+	3	665	c.255G>T	c.(253-255)aaG>aaT	p.K85N	KHDRBS3_ENST00000520981.1_Intron	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3	85	KH.				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding	p.K85N(1)		NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			ATTCTCTGAAGCGTTTACAAG	0.368													87	366					2.32385e-29	2.59096e-29	0.870114	1	0	T	136554944	G	T	136554944	3	4	60	1	0	0	0	0	1	0	0	0	8190	962	34	4	265	4	KHDRBS3	8	136554944	Missense_Mutation	SNP	G	TCGA-EJ-5525-01A-01D-1576-08	20127989	136554944	9809078	35	3096	15	2									
KHDRBS3	10656	broad.mit.edu	37	chr8	136554945	136554945	+	Missense_Mutation	SNP	C	C	T																															cacgtggcaattctctgaagCgtttacaagaagaaaccttg																										TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr8:136554945C>T	ENST00000355849.5	+	3	666	c.256C>T	c.(256-258)Cgt>Tgt	p.R86C	KHDRBS3_ENST00000520981.1_Intron	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3	86	KH.				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding	p.R86C(1)		NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			TTCTCTGAAGCGTTTACAAGA	0.368													87	369					0	0	0.870114	0	0	T	136554945	C	T	136554945	3	4	60	1	0	0	0	0	1	0	0	0	8190	768	27	1	266	1	KHDRBS3	8	136554945	Missense_Mutation	SNP	C	TCGA-EJ-5525-01A-01D-1576-08	1	136554945	9809077	36	3097	15	2									
ZNF517	340385	broad.mit.edu	37	chr8	146033227	146033227	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccctcaacgagcacggccGcatccacagcggggagcggc	9	2	13	17	5	1	0	1	0	0	0	2	2	2	1	3	4	4	2	3	4	1	0			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr8:146033227G>A	ENST00000359971.3	+	5	1033	c.926G>A	c.(925-927)cGc>cAc	p.R309H	ZNF517_ENST00000525105.1_Intron|ZNF517_ENST00000531720.1_Missense_Mutation_p.R309H|ZNF517_ENST00000526178.1_Intron	NM_213605.2	NP_998770.2	Q6ZMY9	ZN517_HUMAN	zinc finger protein 517	309					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R309H(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			GAGCACGGCCGCATCCACAGC	0.682													3	34					0	0	0.115264	0	0	A	146033227	G	A	146033227	3	1	60	1	0	0	0	0	1	0	0	0	18018	1087	38	1	940	1	ZNF517	8	146033227	Missense_Mutation	SNP	G	TCGA-EJ-5525-01A-01D-1576-08	9478282	146033227	330795	37	3098											
TBC1D2	55357	broad.mit.edu	37	chr9	100991289	100991289	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgttgctccaaggctgccActttctcctgggcagttcgg	4	12	11	14	1	1	0	0	0	1	0	4	0	2	0	4	3	2	5	4	3	1	3			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr9:100991289A>C	ENST00000375066.5	-	5	1014	c.923T>G	c.(922-924)gTg>gGg	p.V308G	TBC1D2_ENST00000493589.2_5'UTR|TBC1D2_ENST00000375064.1_Missense_Mutation_p.V308G|TBC1D2_ENST00000342112.5_Missense_Mutation_p.V90G	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	308	Interaction with RAC1.					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity	p.V308G(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CAAGGCTGCCACTTTCTCCTG	0.542													61	88					0	0	0.870114	0	0	C	100991289	A	C	100991289	3	2	60	1	0	0	0	0	1	0	0	0	15665	159	6	5	1866	5	TBC1D2	9	100991289	Missense_Mutation	SNP	A	TCGA-EJ-5525-01A-01D-1576-08		100991289	40222142	38	3099											
COL27A1	85301	broad.mit.edu	37	chr9	117068939	117068939	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcccgggtctgcagggaccTcatggactgtgagcagaaga	9	6	15	11	2	2	3	1	1	1	2	2	5	2	5	2	3	2	2	2	3	1	0			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr9:117068939T>C	ENST00000356083.3	+	58	5469	c.5078T>C	c.(5077-5079)cTc>cCc	p.L1693P		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1693	Fibrillar collagen NC1.				cell adhesion		extracellular matrix structural constituent	p.L1693P(1)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TGCAGGGACCTCATGGACTGT	0.582											OREG0019417	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	58					0	0	0.740014	0	0	C	117068939	T	C	117068939	3	2	60	1	0	0	0	0	1	0	0	0	3708	1551	54	3	5308	3	COL27A1	9	117068939	Missense_Mutation	SNP	T	TCGA-EJ-5525-01A-01D-1576-08	16077650	117068939	24144492	39	3100											
ASB6	140459	broad.mit.edu	37	chr9	132400168	132400168	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttcacatccacaggccaCggctgaaggtagagccggat	11	6	11	13	2	1	2	1	1	0	1	2	3	2	3	4	4	1	2	4	4	2	2			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr9:132400168C>T	ENST00000277458.4	-	6	1332	c.1167G>A	c.(1165-1167)ccG>ccA	p.P389P	ASB6_ENST00000450050.2_Silent_p.P310P|ASB6_ENST00000277459.4_3'UTR	NM_017873.3	NP_060343.1	Q9NWX5	ASB6_HUMAN	ankyrin repeat and SOCS box containing 6	389	SOCS box.				intracellular signal transduction	cytoplasm		p.P389P(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15		Ovarian(14;0.00556)				CCACAGGCCACGGCTGAAGGT	0.597													48	63					0	0	0.870114	0	0	T	132400168	C	T	132400168	2	4	60	1	0	0	0	0	0	0	0	1	1026	523	19	1		1	ASB6	9	132400168	Silent	SNP	C	TCGA-EJ-5525-01A-01D-1576-08	15331229	132400168	8813263	40	3101											
ACBD5	91452	broad.mit.edu	37	chr10	27497258	27497258	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtctcatcagcacgagggCgatctgctcattgaggctgc	8	9	12	12	2	4	1	3	1	2	0	5	3	4	1	0	2	3	3	0	2	0	1			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr10:27497258C>A	ENST00000396271.3	-	10	1447	c.1321G>T	c.(1321-1323)Gcc>Tcc	p.A441S	ACBD5_ENST00000375888.1_Missense_Mutation_p.A450S|ACBD5_ENST00000375897.3_Missense_Mutation_p.A264S|ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375905.4_Missense_Mutation_p.A406S|ACBD5_ENST00000375901.1_Missense_Mutation_p.A332S	NM_145698.3	NP_663736.2	Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	450					transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding	p.A441S(1)|p.A406S(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						AGCACGAGGGCGATCTGCTCA	0.572													129	190					4.22663e-88	5.06152e-88	0.870114	1	0	A	27497258	C	A	27497258	3	1	60	1	0	0	0	0	1	0	0	0	125	768	27	4	272	4	ACBD5	10	27497258	Missense_Mutation	SNP	C	TCGA-EJ-5525-01A-01D-1576-08		27497258	108037489	41	3102											
CHAT	1103	broad.mit.edu	37	chr10	50854677	50854677	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctccttcacggcggaggctAcagcaagaacggggccaatc	10	5	13	13	3	1	1	1	0	0	1	3	2	2	2	2	5	3	3	2	5	4	2			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr10:50854677A>T	ENST00000395562.2	+	9	1461	c.992A>T	c.(991-993)tAc>tTc	p.Y331F	CHAT_ENST00000395559.2_Missense_Mutation_p.Y295F|CHAT_ENST00000455728.2_Missense_Mutation_p.Y295F|CHAT_ENST00000337653.2_Missense_Mutation_p.Y413F|CHAT_ENST00000339797.1_Missense_Mutation_p.Y295F|CHAT_ENST00000351556.3_Missense_Mutation_p.Y295F	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	413					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	p.Y413F(1)		central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	GGCGGAGGCTACAGCAAGAAC	0.632													33	48					0	0	0.779181	0	0	T	50854677	A	T	50854677	3	4	60	1	0	0	0	0	1	0	0	0	3335	391	14	5	1312	5	CHAT	10	50854677	Missense_Mutation	SNP	A	TCGA-EJ-5525-01A-01D-1576-08	23357419	50854677	84680070	42	3103											
GOLGA7B	401647	broad.mit.edu	37	chr10	99623791	99623791	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcgagggctgcctggcctgCgccacggcctacttcatctt	4	10	11	16	3	2	0	1	0	1	0	3	1	2	0	4	3	3	1	4	3	1	3	rs138920879	byFrequency	TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr10:99623791C>T	ENST00000370602.1	+	3	308	c.243C>T	c.(241-243)tgC>tgT	p.C81C		NM_001010917.2	NP_001010917.1	Q2TAP0	GOG7B_HUMAN	golgin A7 family, member B	81						Golgi membrane		p.C81C(1)		endometrium(1)|large_intestine(3)|prostate(1)	5						GCCTGGCCTGCGCCACGGCCT	0.617													26	57					0	0	0.819951	0	0	T	99623791	C	T	99623791	2	4	60	1	0	0	0	0	0	0	0	1	6602	776	27	1		1	GOLGA7B	10	99623791	Silent	SNP	C	TCGA-EJ-5525-01A-01D-1576-08	48769114	99623791	35910956	43	3104											
GPR123	84435	broad.mit.edu	37	chr10	134942935	134942935	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acgggctgcccaagggtaaaTtgctagaaggcctgccgttt	9	9	13	10	2	0	1	0	0	0	1	0	1	0	1	3	3	3	4	3	3	5	4			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr10:134942935T>C	ENST00000607359.1	+	16	3760	c.3760T>C	c.(3760-3762)Ttg>Ctg	p.L1254L	GPR123_ENST00000392606.2_Silent_p.L438L|GPR123_ENST00000392607.3_Silent_p.L535L			Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	535						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.L1254L(1)|p.L535L(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CAAGGGTAAATTGCTAGAAGG	0.632													16	18					0	0	0.479597	0	0	C	134942935	T	C	134942935	2	2	60	1	0	0	0	0	0	0	0	1	6677	1490	52	3		3	GPR123	10	134942935	Silent	SNP	T	TCGA-EJ-5525-01A-01D-1576-08	35319144	134942935	591812	44	3105											
GTF2H1	2965	broad.mit.edu	37	chr11	18362866	18362866	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagagaaggaattctggacAcgttttttccagtcccatta	12	12	8	9	1	1	1	0	0	1	1	3	4	3	3	2	2	0	1	2	2	3	5			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr11:18362866A>G	ENST00000265963.4	+	6	826	c.666A>G	c.(664-666)acA>acG	p.T222T	GTF2H1_ENST00000453096.2_Silent_p.T222T|GTF2H1_ENST00000524753.4_Silent_p.T18T|GTF2H1_ENST00000534641.1_Silent_p.T106T	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1, 62kDa	222	BSD 2.				mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding	p.T222T(2)		endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						AATTCTGGACACGTTTTTTCC	0.363								Nucleotide excision repair (NER)					53	99					0	0	0.870114	0	0	G	18362866	A	G	18362866	2	3	60	1	0	0	0	0	0	0	0	1	6901	146	6	3		3	GTF2H1	11	18362866	Silent	SNP	A	TCGA-EJ-5525-01A-01D-1576-08		18362866	116643650	45	3106											
OR9Q2	219957	broad.mit.edu	37	chr11	57958582	57958582	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtttgctcttttcgtcaTgcctgcctgtatcttggtga	3	19	10	9	1	3	1	1	1	2	0	4	1	3	1	2	1	3	3	2	1	1	5			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr11:57958582T>G	ENST00000311591.3	+	1	677	c.620T>G	c.(619-621)aTg>aGg	p.M207R		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M207R(1)		breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				CTTTTCGTCATGCCTGCCTGT	0.488													57	95					0	0	0.870114	0	0	G	57958582	T	G	57958582	3	3	60	1	0	0	0	0	1	0	0	0	11303	1464	51	5	622	5	OR9Q2	11	57958582	Missense_Mutation	SNP	T	TCGA-EJ-5525-01A-01D-1576-08	39595716	57958582	77047934	46	3107											
KLC2	64837	broad.mit.edu	37	chr11	66029325	66029325	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggctgcgtgaggagctggCggggacacagcagaagctgc	8	5	19	9	2	0	2	0	1	0	1	0	4	0	4	0	5	5	4	0	5	1	0			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr11:66029325C>T	ENST00000417856.1	+	3	584	c.341C>T	c.(340-342)gCg>gTg	p.A114V	KLC2_ENST00000394065.2_5'UTR|KLC2_ENST00000394066.2_Intron|KLC2_ENST00000394067.2_Missense_Mutation_p.A114V|KLC2_ENST00000394078.1_Missense_Mutation_p.A114V|KLC2_ENST00000316924.5_Missense_Mutation_p.A114V|KLC2_ENST00000421552.1_Intron	NM_001134775.1	NP_001128247.1	Q9H0B6	KLC2_HUMAN	kinesin light chain 2	114					blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding	p.A114V(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						GAGGAGCTGGCGGGGACACAG	0.627													3	49					0	0	0.115264	0	0	T	66029325	C	T	66029325	3	4	60	1	0	0	0	0	1	0	0	0	8377	768	27	1	347	1	KLC2	11	66029325	Missense_Mutation	SNP	C	TCGA-EJ-5525-01A-01D-1576-08	8070743	66029325	68977191	47	3108											
FGFR1OP2	26127	broad.mit.edu	37	chr12	27109591	27109591	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agagttgcaacaagaaaacaAaggtaagatacgttactttt	18	10	8	5	1	0	3	0	0	0	3	0	3	0	3	0	1	5	4	0	1	8	6			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr12:27109591A>G	ENST00000229395.3	+	3	593	c.251A>G	c.(250-252)aAa>aGa	p.K84R	FGFR1OP2_ENST00000546072.1_Missense_Mutation_p.K84R|FGFR1OP2_ENST00000327214.5_Missense_Mutation_p.K84R	NM_015633.2	NP_056448.1	Q9NVK5	FGOP2_HUMAN	FGFR1 oncogene partner 2	84						cytoplasm		p.K84R(1)		cervix(1)|large_intestine(4)|lung(1)|prostate(2)	8	Colorectal(261;0.0847)					CAAGAAAACAAAGGTAAGATA	0.388													35	67					0	0	0.804634	0	0	G	27109591	A	G	27109591	3	3	60	1	0	0	0	0	1	0	0	0	5898	14	1	3	257	3	FGFR1OP2	12	27109591	Missense_Mutation	SNP	A	TCGA-EJ-5525-01A-01D-1576-08		27109591	106742304	48	3109											
ACVRL1	94	broad.mit.edu	37	chr12	52310003	52310003	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgggagattgcccgccGgaccatcgtgaatggtgagg	7	8	17	9	3	0	3	0	2	0	1	1	5	0	4	3	4	1	1	3	4	1	1	rs121909284		TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr12:52310003G>A	ENST00000550683.1	+	7	1375	c.1274G>A	c.(1273-1275)cGg>cAg	p.R425Q	ACVRL1_ENST00000419526.2_Missense_Mutation_p.R237Q|ACVRL1_ENST00000388922.4_Missense_Mutation_p.R411Q	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	411	Protein kinase.		F -> L (in HHT2).|F -> V (in HHT2).|Missing (in HHT2).		blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	p.R411Q(3)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	ATTGCCCGCCGGACCATCGTG	0.627													26	37					0	0	0.706142	0	0	A	52310003	G	A	52310003	3	1	60	1	0	0	0	0	1	0	0	0	224	1116	39	1	1258	1	ACVRL1	12	52310003	Missense_Mutation	SNP	G	TCGA-EJ-5525-01A-01D-1576-08	25200412	52310003	81541892	49	3110											
GLI1	2735	broad.mit.edu	37	chr12	57864730	57864730	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgggatatgggggacctgAaggggcagcagctgagcctt	8	8	17	8	0	1	2	0	2	1	0	1	4	1	4	2	5	3	3	2	5	2	2			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr12:57864730A>T	ENST00000228682.2	+	12	2298	c.2207A>T	c.(2206-2208)gAa>gTa	p.E736V	GLI1_ENST00000546141.1_Missense_Mutation_p.E695V|GLI1_ENST00000543426.1_Missense_Mutation_p.E608V	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	736					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	p.E736V(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			GGGGGACCTGAAGGGGCAGCA	0.602													69	129					0	0	0.870114	0	0	T	57864730	A	T	57864730	3	4	60	1	0	0	0	0	1	0	0	0	6479	246	9	5	2249	5	GLI1	12	57864730	Missense_Mutation	SNP	A	TCGA-EJ-5525-01A-01D-1576-08	5554727	57864730	75987165	50	3111											
CCDC41	51134	broad.mit.edu	37	chr12	94763729	94763729	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgaatcttattcctttcTctttctagctcactcttagc	6	20	3	12	0	5	1	1	1	4	0	7	1	6	1	1	0	2	1	1	0	4	7			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr12:94763729T>C	ENST00000397809.5	-	9	1566	c.1017A>G	c.(1015-1017)agA>agG	p.R339R	CCDC41_ENST00000397807.2_Silent_p.R306R|CCDC41_ENST00000547575.1_Silent_p.R339R|CCDC41_ENST00000339839.5_Silent_p.R339R|CCDC41_ENST00000549352.1_5'UTR	NM_016122.2	NP_057206.2	Q9Y592	CCD41_HUMAN	coiled-coil domain containing 41	331								p.R339R(1)		breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						TATTCCTTTCTCTTTCTAGCT	0.333													5	411					0	0	0.184627	0	0	C	94763729	T	C	94763729	2	2	60	1	0	0	0	0	0	0	0	1	2832	1548	54	3		3	CCDC41	12	94763729	Silent	SNP	T	TCGA-EJ-5525-01A-01D-1576-08	36898999	94763729	39088166	51	3112											
MYO1H	283446	broad.mit.edu	37	chr12	109849777	109849777	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagagaaagtgggcaaacatGcacacttcgaaacgtacata	18	6	9	8	2	0	1	0	0	0	1	1	3	0	1	0	1	4	3	0	1	6	3			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr12:109849777G>A	ENST00000310903.5	+	14	1547	c.1441G>A	c.(1441-1443)Gca>Aca	p.A481T	MYO1H_ENST00000431443.2_Missense_Mutation_p.A491T			B4DNW6	B4DNW6_HUMAN	myosin IH	0						myosin complex	motor activity	p.A481T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						GGGCAAACATGCACACTTCGA	0.398													9	5					0	0	0.307466	0	0	A	109849777	G	A	109849777	3	1	60	1	0	0	0	0	1	0	0	0	10123	1319	46	2	1491	2	MYO1H	12	109849777	Missense_Mutation	SNP	G	TCGA-EJ-5525-01A-01D-1576-08	15086048	109849777	24002118	52	3113											
PIWIL1	9271	broad.mit.edu	37	chr12	130839528	130839528	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggcagcgtgaagtgggaCgactcattgattacattcat	13	10	11	7	2	2	2	2	2	0	0	2	4	2	3	0	2	2	1	0	2	3	3			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr12:130839528C>T	ENST00000245255.3	+	11	1539	c.1267C>T	c.(1267-1269)Cga>Tga	p.R423*		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	423					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	p.R423*(2)		breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		TGAAGTGGGACGACTCATTGA	0.383													114	180					0	0	0.870114	0	0	T	130839528	C	T	130839528	4	4	60	1	0	0	0	0	0	1	0	0	12005	528	19	1	1305	1	PIWIL1	12	130839528	Nonsense_Mutation	SNP	C	TCGA-EJ-5525-01A-01D-1576-08	20989751	130839528	3012367	53	3114											
RNF6	6049	broad.mit.edu	37	chr13	26788080	26788080	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatgcatgcaaggtaattGcctgagcttgtttccagtta	9	15	9	8	0	1	1	1	1	0	0	2	1	2	1	2	1	4	6	2	1	3	6			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr13:26788080G>A	ENST00000381588.4	-	5	2691	c.1939C>T	c.(1939-1941)Caa>Taa	p.Q647*	RNF6_ENST00000346166.3_Nonsense_Mutation_p.Q647*|RNF6_ENST00000468480.1_Intron|RNF6_ENST00000381570.3_Nonsense_Mutation_p.Q647*|RNF6_ENST00000399762.2_Nonsense_Mutation_p.Q291*	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	647	Required for polyubiquitination (By similarity).				negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding	p.Q647*(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		CAAGGTAATTGCCTGAGCTTG	0.408													82	39					0	0	0.870114	0	0	A	26788080	G	A	26788080	4	1	60	1	0	0	0	0	0	1	0	0	13550	1328	46	2	122	2	RNF6	13	26788080	Nonsense_Mutation	SNP	G	TCGA-EJ-5525-01A-01D-1576-08		26788080	88381798	54	3115											
MYCBP2	23077	broad.mit.edu	37	chr13	77718680	77718680	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcattattgacacggatcagCatattctcactgggtctgaa	11	13	8	9	1	4	2	3	2	2	0	5	3	4	3	0	2	1	1	0	2	3	4			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr13:77718680C>T	ENST00000407578.2	-	49	7469	c.7203G>A	c.(7201-7203)atG>atA	p.M2401I	MYCBP2_ENST00000357337.6_Missense_Mutation_p.M2363I|MYCBP2_ENST00000544440.2_Missense_Mutation_p.M2363I|MYCBP2_ENST00000360084.5_5'UTR	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	2363					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	p.M2363I(2)|p.M2401I(1)		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)		CACGGATCAGCATATTCTCAC	0.368													14	106					0	0	0.520397	0	0	T	77718680	C	T	77718680	3	4	60	1	0	0	0	0	1	0	0	0	10066	710	25	2	6973	2	MYCBP2	13	77718680	Missense_Mutation	SNP	C	TCGA-EJ-5525-01A-01D-1576-08	50930600	77718680	37451198	55	3116											
PROZ	8858	broad.mit.edu	37	chr13	113824784	113824784	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtggtgttataatacgggaaAattttgtactgacaacagca	14	12	10	5	1	0	1	0	1	0	0	0	2	0	2	0	2	4	3	0	2	7	6			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr13:113824784A>C	ENST00000342783.4	+	8	704	c.697A>C	c.(697-699)Aat>Cat	p.N233H	PROZ_ENST00000493630.1_3'UTR|PROZ_ENST00000375547.2_Missense_Mutation_p.N211H	NM_001256134.1	NP_001243063.1	P22891	PROZ_HUMAN	protein Z, vitamin K-dependent plasma glycoprotein	211	Peptidase S1.				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|serine-type endopeptidase activity	p.N211H(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	all cancers(43;0.104)		Menadione(DB00170)	AATACGGGAAAATTTTGTACT	0.303													5	70					0	0	0.184627	0	0	C	113824784	A	C	113824784	3	2	60	1	0	0	0	0	1	0	0	0	12614	14	1	5	657	5	PROZ	13	113824784	Missense_Mutation	SNP	A	TCGA-EJ-5525-01A-01D-1576-08	36106104	113824784	1345094	56	3117											
TRPM1	4308	broad.mit.edu	37	chr15	31294406	31294406	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgtgctatgagagcgcgtGatcttttgaacttggcattg	7	15	12	7	2	2	3	0	3	2	1	2	4	2	3	0	1	3	2	0	1	2	5			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr15:31294406G>A	ENST00000542188.1	-	27	4861	c.4548C>T	c.(4546-4548)atC>atT	p.I1516I	TRPM1_ENST00000397795.2_Silent_p.I1477I|TRPM1_ENST00000256552.6_Silent_p.I1499I|RP11-348B17.1_ENST00000561299.1_RNA	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	1477					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	p.I1477I(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GAGAGCGCGTGATCTTTTGAA	0.478													12	452					0	0	0.457914	0	0	A	31294406	G	A	31294406	2	1	60	1	0	0	0	0	0	0	0	1	16646	1280	45	2		2	TRPM1	15	31294406	Silent	SNP	G	TCGA-EJ-5525-01A-01D-1576-08		31294406	71236986	57	3118											
MYO5C	55930	broad.mit.edu	37	chr15	52571856	52571856	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcagagattctggattgaCagaataatccagctcctatg	13	10	10	8	0	1	3	0	1	1	2	3	5	3	4	2	2	1	2	2	2	3	4			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr15:52571856C>G	ENST00000261839.7	-	3	315	c.154G>C	c.(154-156)Gtc>Ctc	p.V52L	MYO5C_ENST00000541028.1_5'UTR|MYO5C_ENST00000443683.2_5'UTR	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	52	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.V52L(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TCTGGATTGACAGAATAATCC	0.468													29	30					0	0	0.706142	0	0	G	52571856	C	G	52571856	3	3	60	1	0	0	0	0	1	0	0	0	10128	478	17	4	5230	4	MYO5C	15	52571856	Missense_Mutation	SNP	C	TCGA-EJ-5525-01A-01D-1576-08	21277450	52571856	49959536	58	3119											
THSD4	79875	broad.mit.edu	37	chr15	72039268	72039268	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgccaggtgtacgccaacCgcagcctgacggtgcagccc	7	4	13	17	4	0	1	0	1	0	0	0	1	0	1	6	2	5	3	6	2	2	1			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr15:72039268C>A	ENST00000355327.3	+	13	2262	c.2128C>A	c.(2128-2130)Cgc>Agc	p.R710S	THSD4_ENST00000357769.4_Missense_Mutation_p.R350S|THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Missense_Mutation_p.R710S			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	710	TSP type-1 2.					proteinaceous extracellular matrix	metalloendopeptidase activity	p.R710S(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GTACGCCAACCGCAGCCTGAC	0.637													3	45					0.115264	0.117691	0.115264	1	0	A	72039268	C	A	72039268	3	1	60	1	0	0	0	0	1	0	0	0	15938	652	23	4	2174	4	THSD4	15	72039268	Missense_Mutation	SNP	C	TCGA-EJ-5525-01A-01D-1576-08	19467412	72039268	30492124	59	3120											
TP53	7157	broad.mit.edu	37	chr17	7578242	7578242	+	Frame_Shift_Del	DEL	C	C	-																															tctgtcatccaaatactccaCacgcaaatttccttccactc																										TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr17:7578242delC	ENST00000420246.2	-	6	739	c.607delG	c.(607-609)tgfs	p.V203fs	TP53_ENST00000413465.2_Frame_Shift_Del_p.V203fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.V203fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.V203fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.V203fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Frame_Shift_Del_p.V203fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	203	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|VE -> LV (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.?(5)|p.V203L(3)|p.V203fs*44(2)|p.V203M(2)|p.N200fs*4(1)|p.V203_E204>LV(1)|p.G199fs*42(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)		AAATACTCCACACGCAAATTT	0.557		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)			28	13	---	---	---	---						-	7578242	C	-	7578242	7	5	60	1	0	1	0	1	0	0	0	0	16442	478	17	0	687	0	TP53	17	7578242	Frame_Shift_Del	DEL	C	TCGA-EJ-5525-01A-01D-1576-08		7578242	73616968	60	3121											
LRRC37B	114659	broad.mit.edu	37	chr17	30349140	30349140	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactgaatcatgaagtgacAgttcaacctccaggtgagga	13	8	10	10	0	2	4	2	4	0	0	3	5	3	5	3	2	1	1	3	2	3	1			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr17:30349140A>C	ENST00000327564.7	+	1	1117	c.1056A>C	c.(1054-1056)acA>acC	p.T352T	LRRC37B_ENST00000394713.3_Silent_p.T325T|LRRC37B_ENST00000543378.2_Silent_p.T243T|LRRC37B_ENST00000341671.7_Silent_p.T325T|LRRC37B_ENST00000584368.1_Silent_p.T337T			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	325						integral to membrane		p.T325T(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				ATGAAGTGACAGTTCAACCTC	0.483													70	105					0	0	0.870114	0	0	C	30349140	A	C	30349140	2	2	60	1	0	0	0	0	0	0	0	1	9039	175	7	5		5	LRRC37B	17	30349140	Silent	SNP	A	TCGA-EJ-5525-01A-01D-1576-08	22770898	30349140	50846070	61	3122											
KRT25	147183	broad.mit.edu	37	chr17	38905556	38905556	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatccataatctttagacttGtaacccccagacttacaggc	12	11	6	12	0	1	2	0	0	1	2	2	3	2	2	3	1	2	1	3	1	4	6			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr17:38905556G>C	ENST00000312150.4	-	7	1257	c.1197C>G	c.(1195-1197)taC>taG	p.Y399*		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	399	Tail.					cytoplasm|intermediate filament	structural molecule activity	p.Y399*(1)		endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				CTTTAGACTTGTAACCCCCAG	0.353													12	280					0	0	0.411799	0	0	C	38905556	G	C	38905556	4	2	60	1	0	0	0	0	0	1	0	0	8505	1372	48	4	163	4	KRT25	17	38905556	Nonsense_Mutation	SNP	G	TCGA-EJ-5525-01A-01D-1576-08	8556416	38905556	42289654	62	3123											
SCN4A	6329	broad.mit.edu	37	chr17	62050100	62050100	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgcagccgggcctcctcCtccaccgcccgctgttctat	3	9	9	20	4	1	0	0	0	1	0	4	0	4	0	7	1	2	4	7	1	1	2			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr17:62050100C>G	ENST00000578147.1	-	1	178	c.102G>C	c.(100-102)gaG>gaC	p.E34D	SCN4A_ENST00000435607.1_Missense_Mutation_p.E34D			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	34					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.E34D(2)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GGGCCTCCTCCTCCACCGCCC	0.622													16	22					0	0	0.500413	0	0	G	62050100	C	G	62050100	3	3	60	1	0	0	0	0	1	0	0	0	13974	680	24	4	5504	4	SCN4A	17	62050100	Missense_Mutation	SNP	C	TCGA-EJ-5525-01A-01D-1576-08	23144544	62050100	19145110	63	3124											
SMAD4	4089	broad.mit.edu	37	chr18	48604690	48604690	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttatgcatactcaggatgagTtttgtgaaaggctggggacc	10	12	13	6	0	1	2	1	2	0	0	1	4	1	4	1	4	2	3	1	4	3	4			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr18:48604690T>A	ENST00000342988.3	+	12	2050	c.1512T>A	c.(1510-1512)agT>agA	p.S504R	SMAD4_ENST00000586253.1_3'UTR|SMAD4_ENST00000588745.1_Missense_Mutation_p.S408R|SMAD4_ENST00000398417.2_Missense_Mutation_p.S504R	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	504	MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.S504R(2)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TCAGGATGAGTTTTGTGAAAG	0.488													7	69					0	0	0.27861	0	0	A	48604690	T	A	48604690	3	1	60	1	0	0	0	0	1	0	0	0	14814	1722	60	5	1554	5	SMAD4	18	48604690	Missense_Mutation	SNP	T	TCGA-EJ-5525-01A-01D-1576-08		48604690	29472558	64	3125											
ABCA7	10347	broad.mit.edu	37	chr19	1058148	1058148	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcccacccttgagcagaagCtgcaggaggtgagccggatc	9	6	13	13	1	0	3	0	2	0	1	2	5	1	5	3	3	4	3	3	3	1	1			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr19:1058148C>T	ENST00000263094.6	+	37	5260	c.5029C>T	c.(5029-5031)Ctg>Ttg	p.L1677L	ABCA7_ENST00000435683.2_Silent_p.L1539L|ABCA7_ENST00000433129.1_Silent_p.L1677L	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1677					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	p.L1677L(1)		NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAGCAGAAGCTGCAGGAGGT	0.612													38	10					0	0	0.788014	0	0	T	1058148	C	T	1058148	2	4	60	1	0	0	0	0	0	0	0	1	37	796	28	2		2	ABCA7	19	1058148	Silent	SNP	C	TCGA-EJ-5525-01A-01D-1576-08		1058148	58070835	65	3126											
MAP1S	55201	broad.mit.edu	37	chr19	17836873	17836873	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgtcccccttcgagctgcTggagcccccgacctccgggg	4	6	12	19	4	0	0	0	0	0	0	3	3	2	1	7	3	3	2	7	3	0	1			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr19:17836873T>A	ENST00000324096.4	+	5	831	c.680T>A	c.(679-681)cTg>cAg	p.L227Q	MAP1S_ENST00000597681.1_Intron|MAP1S_ENST00000544059.2_Missense_Mutation_p.L201Q	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	227	Necessary for the microtubule-organizing center localization.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding	p.L227Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						TTCGAGCTGCTGGAGCCCCCG	0.687													32	25					0	0	0.834066	0	0	A	17836873	T	A	17836873	3	1	60	1	0	0	0	0	1	0	0	0	9284	1580	55	5	698	5	MAP1S	19	17836873	Missense_Mutation	SNP	T	TCGA-EJ-5525-01A-01D-1576-08	16778725	17836873	41292110	66	3127											
IRGQ	126298	broad.mit.edu	37	chr19	44099377	44099377	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccggagtccggccgtccctcGggggcctcgagcgtctccac	3	6	14	18	6	1	0	0	0	1	0	6	2	3	1	6	4	1	0	6	4	0	0			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr19:44099377G>A	ENST00000422989.1	-	2	269	c.114C>T	c.(112-114)ccC>ccT	p.P38P	IRGQ_ENST00000602269.1_Silent_p.P38P	NM_001007561.2	NP_001007562.1	Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	38							protein binding	p.P38P(1)		endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				GCCGTCCCTCGGGGGCCTCGA	0.711													23	48					0	0	0.608945	0	0	A	44099377	G	A	44099377	2	1	60	1	0	0	0	0	0	0	0	1	7883	1103	39	1		1	IRGQ	19	44099377	Silent	SNP	G	TCGA-EJ-5525-01A-01D-1576-08	26262504	44099377	15029606	67	3128											
LILRA4	23547	broad.mit.edu	37	chr19	54848198	54848198	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtagcacctgtaggtccccGcgtgggctgaggtcacagga	7	7	15	12	3	1	1	1	1	0	0	2	2	2	2	3	4	1	4	3	4	2	2			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr19:54848198G>A	ENST00000291759.4	-	6	1225	c.1169C>T	c.(1168-1170)gCg>gTg	p.A390V	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	390	Ig-like C2-type 4.					integral to membrane	receptor activity	p.A390V(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		GTAGGTCCCCGCGTGGGCTGA	0.622													86	130					0	0	0.870114	0	0	A	54848198	G	A	54848198	3	1	60	1	0	0	0	0	1	0	0	0	8827	1087	38	1	342	1	LILRA4	19	54848198	Missense_Mutation	SNP	G	TCGA-EJ-5525-01A-01D-1576-08	10748821	54848198	4280785	68	3129											
ZIK1	284307	broad.mit.edu	37	chr19	58101497	58101497	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caatcctgtgagatgtgtgtCccagtcctgaaagatatttt	10	14	9	8	0	0	3	0	2	0	2	3	4	3	3	3	0	0	0	3	0	3	3			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr19:58101497C>T	ENST00000597850.1	+	4	533	c.318C>T	c.(316-318)gtC>gtT	p.V106V	ZIK1_ENST00000599456.1_Silent_p.V51V|ZIK1_ENST00000536878.2_Silent_p.V93V|ZIK1_ENST00000307468.4_3'UTR	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	106	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V106V(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AGATGTGTGTCCCAGTCCTGA	0.463													50	81					0	0	0.870114	0	0	T	58101497	C	T	58101497	2	4	60	1	0	0	0	0	0	0	0	1	17741	842	30	2		2	ZIK1	19	58101497	Silent	SNP	C	TCGA-EJ-5525-01A-01D-1576-08	3253299	58101497	1027486	69	3130											
MYH7B	57644	broad.mit.edu	37	chr20	33575571	33575571	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctccctgcacctccaggtgGtgtttgctgtgggggctctg	2	12	14	13	0	1	0	0	0	1	0	3	0	3	0	4	4	2	4	4	4	0	1			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr20:33575571G>T	ENST00000262873.7	+	16	1488	c.1396G>T	c.(1396-1398)Gtg>Ttg	p.V466L		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	424	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity	p.V466L(1)		NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CCTCCAGGTGGTGTTTGCTGT	0.662													6	171					0.000673444	0.000694937	0.361761	1	0	T	33575571	G	T	33575571	3	4	60	1	0	0	0	0	1	0	0	0	10088	1261	44	4	1458	4	MYH7B	20	33575571	Missense_Mutation	SNP	G	TCGA-EJ-5525-01A-01D-1576-08		33575571	29449949	70	3131											
ITSN1	6453	broad.mit.edu	37	chr21	35195922	35195922	+	Frame_Shift_Del	DEL	T	T	-																															tgggcgacaaggccggagtcTtcccttctaactatgtgagg																										TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr21:35195922delT	ENST00000381318.3	+	25	3436	c.3148delT	c.(3148-3150)tcfs	p.F1050fs	ITSN1_ENST00000399367.3_Frame_Shift_Del_p.F1045fs|ITSN1_ENST00000437442.2_Frame_Shift_Del_p.F1045fs|ITSN1_ENST00000381285.4_Frame_Shift_Del_p.F1050fs|ITSN1_ENST00000381291.4_Frame_Shift_Del_p.F1050fs|ITSN1_ENST00000399352.1_Frame_Shift_Del_p.F1045fs|ITSN1_ENST00000399353.1_Frame_Shift_Del_p.F1008fs|ITSN1_ENST00000399355.2_Intron|ITSN1_ENST00000379960.5_Intron|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399326.3_Intron|ITSN1_ENST00000399349.1_Intron	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1050	SH3 3.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						GGCCGGAGTCTTCCCTTCTAA	0.473													71	115	---	---	---	---						-	35195922	T	-	35195922	7	5	60	1	0	1	0	1	0	0	0	0	7970	1609	56	0	3242	0	ITSN1	21	35195922	Frame_Shift_Del	DEL	T	TCGA-EJ-5525-01A-01D-1576-08		35195922	12933973	71	3132											
RRP1	8568	broad.mit.edu	37	chr21	45209622	45209636	+	In_Frame_Del	DEL	GCCAGGACTCAGCGG	GCCAGGACTCAGCGG	-																															agctccggaaatacatcgtcGccaggactcagcgggccgca																										TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr21:45209622_45209636delGCCAGGACTCAGCGG	ENST00000497547.1	+	1	229_243	c.112_126delGCCAGGACTCAGCGG	c.(112-126)del	p.ARTQR38del		NM_003683.5	NP_003674.1	P56182	RRP1_HUMAN	ribosomal RNA processing 1	38					rRNA processing	nucleolus|preribosome, small subunit precursor				central_nervous_system(1)|kidney(1)|lung(4)|stomach(2)	8				COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171)		ATACATCGTCGCCAGGACTCAGCGGGCCGCAGGTT	0.749													4	3	---	---	---	---						-	45209636	GCCAGGACTCAGCGG	-	45209622	7	5	60	1	0	1	0	1	0	0	0	0	13737	1087	38	0	114	0	RRP1	21	45209622	In_Frame_Del	DEL	GCCAGGACTCAGCGG	TCGA-EJ-5525-01A-01D-1576-08	10013700	45209622	2920273	72	3133											
TRAPPC10	7109	broad.mit.edu	37	chr21	45503102	45503102	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatgccctcaggggtggcTctggaggagggtgcccacgt	6	7	18	10	1	2	1	1	0	1	1	2	4	2	3	2	6	2	1	2	6	0	0			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chr21:45503102T>C	ENST00000291574.4	+	14	2332	c.2157T>C	c.(2155-2157)gcT>gcC	p.A719A		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	719					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	p.A719A(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						CAGGGGTGGCTCTGGAGGAGG	0.572													62	217					0	0	0.870114	0	0	C	45503102	T	C	45503102	2	2	60	1	0	0	0	0	0	0	0	1	16518	1538	54	3		3	TRAPPC10	21	45503102	Silent	SNP	T	TCGA-EJ-5525-01A-01D-1576-08	293480	45503102	2626793	73	3134											
MAP7D2	256714	broad.mit.edu	37	chrX	20033399	20033399	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatctgttctctctcgagaCgcatctgttcagctacctcc	7	14	6	14	2	5	1	1	0	4	1	8	2	6	1	2	0	2	4	2	0	2	4			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chrX:20033399C>T	ENST00000379651.3	-	11	1586	c.1568G>A	c.(1567-1569)cGt>cAt	p.R523H	MAP7D2_ENST00000543767.1_Missense_Mutation_p.R408H|MAP7D2_ENST00000452324.3_Missense_Mutation_p.R471H|MAP7D2_ENST00000443379.3_Missense_Mutation_p.R478H|MAP7D2_ENST00000379643.5_Missense_Mutation_p.R564H	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	523								p.R523H(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						TCTCTCGAGACGCATCTGTTC	0.463													104	21					0	0	0.870114	0	0	T	20033399	C	T	20033399	3	4	60	1	0	0	0	0	1	0	0	0	9318	536	19	1	650	1	MAP7D2	23	20033399	Missense_Mutation	SNP	C	TCGA-EJ-5525-01A-01D-1576-08		20033399	135237161	74	3135											
HDAC6	10013	broad.mit.edu	37	chrX	48673411	48673411	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggttcgcccagctaaccCacctgctcatgggtctggca	7	8	11	15	1	2	0	1	0	1	0	3	0	2	0	3	3	3	4	3	3	1	2			TCGA-EJ-5525-01A-01D-1576-08	TCGA-EJ-5525-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3953b74a-6ac2-443c-9c61-be6894c76d92	800eb17e-206d-461a-8dad-15d3a09dfb9a	g.chrX:48673411C>T	ENST00000334136.5	+	14	1280	c.1102C>T	c.(1102-1104)Cac>Tac	p.H368Y	HDAC6_ENST00000444343.2_Missense_Mutation_p.H382Y|HDAC6_ENST00000376619.2_Missense_Mutation_p.H368Y			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	368	Histone deacetylase 1.				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding	p.H368Y(1)		breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	CCAGCTAACCCACCTGCTCAT	0.642													7	6					0	0	0.38729	0	0	T	48673411	C	T	48673411	3	4	60	1	0	0	0	0	1	0	0	0	7052	594	21	2	1152	2	HDAC6	23	48673411	Missense_Mutation	SNP	C	TCGA-EJ-5525-01A-01D-1576-08	28640012	48673411	106597149	75	3136											
MTHFR	4524	broad.mit.edu	37	chr1	11855381	11855381	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagcttggacagcttcaCaagctgccgaagggagtggt	9	8	13	11	1	1	0	1	0	0	0	2	3	2	2	2	3	4	3	2	3	2	2			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr1:11855381C>T	ENST00000376592.1	-	5	933	c.805G>A	c.(805-807)Gtg>Atg	p.V269M	MTHFR_ENST00000376583.3_Missense_Mutation_p.V310M|MTHFR_ENST00000376585.1_Missense_Mutation_p.V310M|MTHFR_ENST00000376590.3_Missense_Mutation_p.V269M			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	269					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding	p.V269M(1)		NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	GACAGCTTCACAAGCTGCCGA	0.582													19	44					0	0	0.624587	0	0	T	11855381	C	T	11855381	3	4	61	1	0	0	0	0	1	0	0	0	9979	478	17	2	1193	2	MTHFR	1	11855381	Missense_Mutation	SNP	C	TCGA-EJ-5526-01A-01D-1576-08		11855381	237395240	1	3137											
PROX1	5629	broad.mit.edu	37	chr1	214171237	214171237	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctctgaccagtctgcctcCggccctgccgctggcggcca	3	8	11	19	3	2	1	0	1	2	0	4	1	4	1	7	3	2	1	7	3	0	0			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr1:214171237C>T	ENST00000366958.4	+	2	1967	c.1359C>T	c.(1357-1359)tcC>tcT	p.S453S	PROX1_ENST00000498508.2_Silent_p.S453S|PROX1_ENST00000261454.4_Silent_p.S453S|PROX1_ENST00000435016.1_Silent_p.S453S	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	453					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	p.S453S(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		AGTCTGCCTCCGGCCCTGCCG	0.647													27	85					0	0	0.788014	0	0	T	214171237	C	T	214171237	2	4	61	1	0	0	0	0	0	0	0	1	12612	639	23	1		1	PROX1	1	214171237	Silent	SNP	C	TCGA-EJ-5526-01A-01D-1576-08	202315856	214171237	35079384	2	3138											
USH2A	7399	broad.mit.edu	37	chr1	215848631	215848631	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtgaaaacaattttctcgtCggcctggattgtctgatttc	8	16	9	8	2	2	2	0	2	2	0	5	3	2	3	1	2	1	0	1	2	3	4			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr1:215848631C>T	ENST00000366943.2	-	63	13008	c.12622G>A	c.(12622-12624)Gac>Aac	p.D4208N	USH2A_ENST00000307340.3_Missense_Mutation_p.D4208N			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4208	Fibronectin type-III 27.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.D4208N(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATTTTCTCGTCGGCCTGGATT	0.393										HNSCC(13;0.011)			44	126					0	0	0.870114	0	0	T	215848631	C	T	215848631	3	4	61	1	0	0	0	0	1	0	0	0	17096	884	31	1	3026	1	USH2A	1	215848631	Missense_Mutation	SNP	C	TCGA-EJ-5526-01A-01D-1576-08	1677394	215848631	33401990	3	3139											
LRRTM4	80059	broad.mit.edu	37	chr2	76975914	76975914	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cggcccagctccaggccgggGctttcgtcctgctctggaga	4	8	14	15	3	1	1	0	0	1	1	4	2	3	1	4	5	2	3	4	5	0	1			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr2:76975914G>A	ENST00000409911.1	-	3	1906	c.1683C>T	c.(1681-1683)agC>agT	p.S561S	LRRTM4_ENST00000409093.1_Silent_p.S560S|LRRTM4_ENST00000409884.1_Silent_p.S560S	NM_001134745.1	NP_001128217.1	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	560						integral to membrane		p.S560S(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		CCAGGCCGGGGCTTTCGTCCT	0.587													54	165					0	0	0.870114	0	0	A	76975914	G	A	76975914	2	1	61	1	0	0	0	0	0	0	0	1	9087	1194	42	2		2	LRRTM4	2	76975914	Silent	SNP	G	TCGA-EJ-5526-01A-01D-1576-08		76975914	166223459	4	3140											
PTCD3	55037	broad.mit.edu	37	chr2	86360495	86360495	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttccccactcccaaacaatGatacatcttctccaagcatt	12	12	2	15	0	2	1	0	1	2	0	5	1	4	1	4	0	3	1	4	0	4	4			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr2:86360495G>A	ENST00000254630.7	+	19	1545	c.1479G>A	c.(1477-1479)atG>atA	p.M493I		NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3	493						mitochondrion	protein binding	p.M493I(1)		NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						CCCAAACAATGATACATCTTC	0.373													16	309					0	0	0.520397	0	0	A	86360495	G	A	86360495	3	1	61	1	0	0	0	0	1	0	0	0	12778	1290	45	2	1553	2	PTCD3	2	86360495	Missense_Mutation	SNP	G	TCGA-EJ-5526-01A-01D-1576-08	9384581	86360495	156838878	5	3141											
EFHB	151651	broad.mit.edu	37	chr3	19924217	19924217	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggttggaacaccacaaatgGggtaacctaggtcattgatg	12	10	12	7	0	1	1	1	1	0	0	1	2	1	2	2	5	2	2	2	5	4	4			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr3:19924217G>C	ENST00000295824.9	-	12	2314	c.2153C>G	c.(2152-2154)cCc>cGc	p.P718R	EFHB_ENST00000344838.4_Missense_Mutation_p.P588R	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	718					signal transduction	proteinaceous extracellular matrix	calcium ion binding	p.P718R(2)|p.P716R(1)		breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						ACCACAAATGGGGTAACCTAG	0.428													11	31					0	0	0.361761	0	0	C	19924217	G	C	19924217	3	2	61	1	0	0	0	0	1	0	0	0	4971	1232	43	4	356	4	EFHB	3	19924217	Missense_Mutation	SNP	G	TCGA-EJ-5526-01A-01D-1576-08		19924217	178098213	6	3142											
BSN	8927	broad.mit.edu	37	chr3	49698154	49698154	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcatgagtccaccaaactgcGcaagaagcaggcagagctgg	13	4	13	11	1	0	3	0	1	0	2	1	3	1	3	2	2	4	5	2	2	3	0			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr3:49698154G>A	ENST00000296452.4	+	6	8990	c.8876G>A	c.(8875-8877)cGc>cAc	p.R2959H		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2959					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	p.R2959H(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		ACCAAACTGCGCAAGAAGCAG	0.602													4	31					0	0	0.150653	0	0	A	49698154	G	A	49698154	3	1	61	1	0	0	0	0	1	0	0	0	1532	1087	38	1	8898	1	BSN	3	49698154	Missense_Mutation	SNP	G	TCGA-EJ-5526-01A-01D-1576-08	29773937	49698154	148324276	7	3143											
SSR3	6747	broad.mit.edu	37	chr3	156266713	156266713	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctttcatctttctccttccGagacatctttctattatcag	7	18	3	13	1	6	1	2	0	4	1	8	2	7	1	3	0	0	0	3	0	2	6			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr3:156266713G>A	ENST00000265044.2	-	3	434	c.340C>T	c.(340-342)Cgg>Tgg	p.R114W	SSR3_ENST00000496050.1_Missense_Mutation_p.R62W|SSR3_ENST00000478842.1_5'UTR|SSR3_ENST00000476217.1_Missense_Mutation_p.R114W|SSR3_ENST00000467789.1_Missense_Mutation_p.R114W|SSR3_ENST00000463503.1_Missense_Mutation_p.R62W	NM_007107.3	NP_009038.1	Q9UNL2	SSRG_HUMAN	signal sequence receptor, gamma (translocon-associated protein gamma)	114					cotranslational protein targeting to membrane	integral to endoplasmic reticulum membrane|microsome|Sec61 translocon complex	protein binding|signal sequence binding	p.R114W(1)		endometrium(1)|prostate(2)	3			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TTCTCCTTCCGAGACATCTTT	0.363													24	82					0	0	0.654019	0	0	A	156266713	G	A	156266713	3	1	61	1	0	0	0	0	1	0	0	0	15248	1057	37	1	229	1	SSR3	3	156266713	Missense_Mutation	SNP	G	TCGA-EJ-5526-01A-01D-1576-08	106568559	156266713	41755717	8	3144											
PIK3CA	5290	broad.mit.edu	37	chr3	178927980	178927980	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgttttttaaggaacacTgtccattggcatggggaaat	10	15	10	6	0	0	0	0	0	0	0	1	2	1	2	1	4	1	2	1	4	3	5	rs121913272		TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr3:178927980T>C	ENST00000263967.3	+	8	1415	c.1258T>C	c.(1258-1260)Tgt>Cgt	p.C420R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	420	C2 PI3K-type.		C -> R (in cancer; shows an increase in lipid kinase activity; may increase the affinity for lipid membranes).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.C420R(40)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TAAGGAACACTGTCCATTGGC	0.328	C420R(CCK81_LARGE_INTESTINE)|C420R(EFM192A_BREAST)|C420R(HEC151_ENDOMETRIUM)|C420R(OVISE_OVARY)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			5	205					0	0	0.217242	0	0	C	178927980	T	C	178927980	3	2	61	1	0	0	0	0	1	0	0	0	11961	1580	55	3	1284	3	PIK3CA	3	178927980	Missense_Mutation	SNP	T	TCGA-EJ-5526-01A-01D-1576-08	22661267	178927980	19094450	9	3145											
C1QTNF7	114905	broad.mit.edu	37	chr4	15444073	15444073	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttaacaaggtcctcttcaacGagggagagcactacaaccct	13	8	8	12	1	2	1	1	0	1	1	3	3	3	1	2	2	5	1	2	2	5	3			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr4:15444073G>A	ENST00000295297.4	+	3	800	c.541G>A	c.(541-543)Gag>Aag	p.E181K	C1QTNF7_ENST00000444304.2_Missense_Mutation_p.E174K|C1QTNF7_ENST00000429690.1_Missense_Mutation_p.E174K	NM_001135170.1	NP_001128642.1	Q9BXJ2	C1QT7_HUMAN	C1q and tumor necrosis factor related protein 7	174	C1q.					collagen		p.E174Q(1)|p.E174K(1)		endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						CCTCTTCAACGAGGGAGAGCA	0.443													15	486					0	0	0.457914	0	0	A	15444073	G	A	15444073	3	1	61	1	0	0	0	0	1	0	0	0	1981	1059	37	1	551	1	C1QTNF7	4	15444073	Missense_Mutation	SNP	G	TCGA-EJ-5526-01A-01D-1576-08		15444073	175710203	10	3146											
IL6ST	3572	broad.mit.edu	37	chr5	55250760	55250772	+	Frame_Shift_Del	DEL	CATTCCACCCAAA	CATTCCACCCAAA	-																															cagattcccttggagtagtcCattccacccaaagcatgtta																										TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr5:55250760_55250772delCATTCCACCCAAA	ENST00000381298.2	-	11	1628_1640	c.1316_1328delTTTGGGTGGAATG	c.(1315-1329)cgfs	p.LWVEW439fs	IL6ST_ENST00000381294.3_Intron|IL6ST_ENST00000536319.1_Intron|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000522633.2_3'UTR|IL6ST_ENST00000336909.5_Frame_Shift_Del_p.LWVEW439fs|IL6ST_ENST00000381287.4_3'UTR|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000502326.3_Frame_Shift_Del_p.LWVEW439fs	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer (gp130, oncostatin M receptor)	439	Fibronectin type-III 4.				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				TGGAGTAGTCCATTCCACCCAAAGCATGTTATC	0.347			O		hepatocellular ca								45	290	---	---	---	---						-	55250772	CATTCCACCCAAA	-	55250760	7	5	61	1	0	1	0	1	0	0	0	0	7747	595	21	0	1456	0	IL6ST	5	55250760	Frame_Shift_Del	DEL	CATTCCACCCAAA	TCGA-EJ-5526-01A-01D-1576-08		55250760	125664500	11	3147											
RREB1	6239	broad.mit.edu	37	chr6	7230059	7230059	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagccccacgcggccacgcGgctctccctgcagcagccgc	5	3	11	22	5	1	0	0	0	1	0	2	0	1	0	6	2	4	3	6	2	0	0			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr6:7230059G>A	ENST00000379938.2	+	10	2264	c.1727G>A	c.(1726-1728)cGg>cAg	p.R576Q	RREB1_ENST00000379933.3_Missense_Mutation_p.R576Q|RREB1_ENST00000334984.6_Missense_Mutation_p.R576Q|RREB1_ENST00000349384.6_Missense_Mutation_p.R576Q	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	576					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	p.R576Q(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GCGGCCACGCGGCTCTCCCTG	0.711													4	13					0	0	0.335167	0	0	A	7230059	G	A	7230059	3	1	61	1	0	0	0	0	1	0	0	0	13731	1116	39	1	1753	1	RREB1	6	7230059	Missense_Mutation	SNP	G	TCGA-EJ-5526-01A-01D-1576-08		7230059	163885008	12	3148											
URGCP	55665	broad.mit.edu	37	chr7	43918497	43918497	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgaggagagcagcagggCacagagaaggtctaaggggt	12	5	18	6	0	2	3	0	1	2	2	2	5	2	3	0	5	2	3	0	5	2	1			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr7:43918497C>A	ENST00000336086.6	-	4	2672	c.436G>T	c.(436-438)Gcc>Tcc	p.A146S	URGCP_ENST00000453200.1_Missense_Mutation_p.A189S|URGCP_ENST00000402306.3_Missense_Mutation_p.A180S|URGCP_ENST00000223341.7_Missense_Mutation_p.A146S|URGCP_ENST00000443736.1_Missense_Mutation_p.A146S|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000447717.3_Missense_Mutation_p.A146S|RP5-1165K10.1_ENST00000603700.1_Intron			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	189					cell cycle	centrosome|nucleus	GTP binding	p.A146S(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGCAGCAGGGCACAGAGAAGG	0.532													21	54					3.73194e-20	4.42625e-20	0.592651	1	0	A	43918497	C	A	43918497	3	1	61	1	0	0	0	0	1	0	0	0	17086	710	25	4	2234	4	URGCP	7	43918497	Missense_Mutation	SNP	C	TCGA-EJ-5526-01A-01D-1576-08		43918497	115220166	13	3149											
PLEKHA2	59339	broad.mit.edu	37	chr8	38793568	38793569	+	Splice_Site	DEL	GG	GG	-																															cagctgacctacatctcgaaGgtaatgttgacctggaactc																										TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr8:38793568_38793569delGG	ENST00000420274.1	+	3	432	c.198_splice	c.e3+1	p.66_splice	PLEKHA2_ENST00000521746.1_Splice_Site_p.66_splice|PLEKHA2_ENST00000388745.4_3'UTR	NM_021623.1	NP_067636.1	Q9HB19	PKHA2_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2	66	PH 1.				positive regulation of cell-matrix adhesion	cytoplasm|nucleus|plasma membrane|protein complex	fibronectin binding|laminin binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13		all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235)			ACATCTCGAAGGTAATGTTGAC	0.46													24	203	---	---	---	---						-	38793569	GG	-	38793568	8	5	61	1	0	1	0	1	0	0	1	0	12104	1014	35	0	204	0	PLEKHA2	8	38793568	Splice_Site	DEL	GG	TCGA-EJ-5526-01A-01D-1576-08		38793568	107570454	14	3150											
RORB	6096	broad.mit.edu	37	chr9	77280437	77280437	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttttagtgagaatgtgccGtgccttcaacccattaaaca	11	12	9	9	1	1	1	1	1	0	1	1	2	1	1	3	1	4	1	3	1	5	4			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr9:77280437G>A	ENST00000376896.2	+	7	1538	c.926G>A	c.(925-927)cGt>cAt	p.R309H	RORB_ENST00000396204.2_Missense_Mutation_p.R320H	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN	RAR-related orphan receptor B	320	Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.R309H(1)		breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						AGAATGTGCCGTGCCTTCAAC	0.313													54	130					0	0	0.870114	0	0	A	77280437	G	A	77280437	3	1	61	1	0	0	0	0	1	0	0	0	13581	1145	40	1	952	1	RORB	9	77280437	Missense_Mutation	SNP	G	TCGA-EJ-5526-01A-01D-1576-08		77280437	63932994	15	3151											
LCN2	3934	broad.mit.edu	37	chr9	130914560	130914560	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acatcgtcttccctgtcccaAtcggtaatggccagtctgga	8	11	9	13	2	2	0	0	0	2	0	6	1	4	1	3	3	0	1	3	3	2	2			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr9:130914560A>G	ENST00000540948.1	+	5	647	c.574A>G	c.(574-576)Atc>Gtc	p.I192V	LCN2_ENST00000373017.1_Missense_Mutation_p.I192V|LCN2_ENST00000277480.2_Missense_Mutation_p.I192V|LCN2_ENST00000372998.1_Missense_Mutation_p.I194V|LCN2_ENST00000373013.2_Missense_Mutation_p.I194V|LCN2_ENST00000470902.1_3'UTR			P80188	NGAL_HUMAN	lipocalin 2	192					apoptosis|innate immune response|regulation of apoptosis|siderophore transport		iron ion binding|transporter activity	p.I192V(1)		central_nervous_system(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	8						CCCTGTCCCAATCGGTAATGG	0.562													23	48					0	0	0.654019	0	0	G	130914560	A	G	130914560	3	3	61	1	0	0	0	0	1	0	0	0	8723	101	4	3	592	3	LCN2	9	130914560	Missense_Mutation	SNP	A	TCGA-EJ-5526-01A-01D-1576-08	53634123	130914560	10298871	16	3152											
CCDC3	83643	broad.mit.edu	37	chr10	12940424	12940424	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccccaggcccgttacccccGcaggtagggggggcgcacgg	5	3	16	17	4	0	0	0	0	0	0	0	0	0	0	5	6	1	4	5	6	2	2			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr10:12940424G>A	ENST00000378839.1	-	7	1382	c.430C>T	c.(430-432)Cgg>Tgg	p.R144W	CCDC3_ENST00000378825.3_Missense_Mutation_p.R269W			Q9BQI4	CCDC3_HUMAN	coiled-coil domain containing 3	269						endoplasmic reticulum|extracellular region		p.R269W(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	11		Ovarian(717;0.0822)	BRCA - Breast invasive adenocarcinoma(52;0.163)			CGTTACCCCCGCAGGTAGGGG	0.637													10	54					0	0	0.38729	0	0	A	12940424	G	A	12940424	3	1	61	1	0	0	0	0	1	0	0	0	2823	1086	38	1	11	1	CCDC3	10	12940424	Missense_Mutation	SNP	G	TCGA-EJ-5526-01A-01D-1576-08		12940424	122594323	17	3153											
PNLIPRP2	5408	broad.mit.edu	37	chr10	118383815	118383816	+	RNA	INS	-	-	CA																															aacccagaaacttacacattINScacacacactggtgcagaga																								rs144051797	by1000genomes	TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr10:118383815_118383816insCA	ENST00000537242.1	+	0	230				PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		acttacacattcacacacactg	0.485													3	4	---	---	---	---						CA	118383816	-	CA	118383815	6	5	61	0	1	1	1	0	0	0	0	0	12199	1798	62	0		0	PNLIPRP2	10	118383815	RNA	INS	-	TCGA-EJ-5526-01A-01D-1576-08	105443391	118383815	17150932	18	3154											
OR52A1	23538	broad.mit.edu	37	chr11	5172911	5172911	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagcctccttctggggcaaaCgaaaaactgtgataaatatc	14	10	8	9	1	1	1	0	1	1	0	3	2	2	1	2	2	3	1	2	2	7	4	rs149615083		TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr11:5172911C>T	ENST00000380367.1	-	2	1106	c.689G>A	c.(688-690)cGt>cAt	p.R230H	OR52A1_ENST00000328942.1_Missense_Mutation_p.R230H			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	230					sensory perception of smell	integral to plasma membrane	olfactory receptor activity	p.R230H(1)		breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGGGCAAACGAAAAACTGT	0.428													30	121					0	0	0.717897	0	0	T	5172911	C	T	5172911	3	4	61	1	0	0	0	0	1	0	0	0	11156	536	19	1	251	1	OR52A1	11	5172911	Missense_Mutation	SNP	C	TCGA-EJ-5526-01A-01D-1576-08		5172911	129833605	19	3155											
ACER3	55331	broad.mit.edu	37	chr11	76730798	76730798	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatacaagaacactttaccTgagatataggccaaaagtga	17	9	8	7	0	0	3	0	2	0	2	0	4	0	3	2	1	3	1	2	1	9	6			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr11:76730798T>G	ENST00000532485.1	+	10	832	c.728T>G	c.(727-729)cTg>cGg	p.L243R	ACER3_ENST00000538157.1_Missense_Mutation_p.L201R|ACER3_ENST00000526597.1_Missense_Mutation_p.L148R|ACER3_ENST00000533873.1_Missense_Mutation_p.L206R|ACER3_ENST00000544113.1_Missense_Mutation_p.L110R	NM_018367.5	NP_060837.3	Q9NUN7	ACER3_HUMAN	alkaline ceramidase 3	243					ceramide metabolic process|phytosphingosine biosynthetic process|positive regulation of cell proliferation|sphingosine biosynthetic process	integral to endoplasmic reticulum membrane|integral to Golgi membrane	phytoceramidase activity	p.L243R(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	9						ACACTTTACCTGAGATATAGG	0.428													35	193					0	0	0.804634	0	0	G	76730798	T	G	76730798	3	3	61	1	0	0	0	0	1	0	0	0	140	1580	55	5	766	5	ACER3	11	76730798	Missense_Mutation	SNP	T	TCGA-EJ-5526-01A-01D-1576-08	71557887	76730798	58275718	20	3156											
RBPMS2	348093	broad.mit.edu	37	chr15	65041630	65041630	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgttctccacctactcacGttcagcgcattcttggccgc	5	12	7	17	3	4	0	2	0	2	0	5	0	4	0	4	1	2	3	4	1	1	5			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr15:65041630G>A	ENST00000560606.1	-	0	266				RBPMS2_ENST00000300069.4_Splice_Site_p.N89_splice			Q6ZRY4	RBPS2_HUMAN	RNA binding protein with multiple splicing 2								nucleic acid binding|nucleotide binding	p.N89N(1)		breast(1)|large_intestine(3)|lung(3)|prostate(1)	8						ACCTACTCACGTTCAGCGCAT	0.512													30	113					0	0	0.740014	0	0	A	65041630	G	A	65041630	1	1	61	1	0	0	0	0	0	0	0	0	13216	1159	40	1		1	RBPMS2	15	65041630	Translation_Start_Site	SNP	G	TCGA-EJ-5526-01A-01D-1576-08		65041630	37489762	21	3157											
OSGIN1	29948	broad.mit.edu	37	chr16	83999180	83999180	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagctgcccaagatgctgtaCcccgagtaccacaaggtgca	11	6	10	14	1	0	1	0	0	0	1	0	2	0	1	4	1	6	5	4	1	4	2			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr16:83999180C>T	ENST00000343939.2	+	7	1634	c.1251C>T	c.(1249-1251)taC>taT	p.Y417Y	OSGIN1_ENST00000393306.1_Silent_p.Y334Y|OSGIN1_ENST00000361711.3_Silent_p.Y334Y			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	417					cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity	p.Y417Y(1)		autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						AGATGCTGTACCCCGAGTACC	0.637													22	62					0	0	0.608945	0	0	T	83999180	C	T	83999180	2	4	61	1	0	0	0	0	0	0	0	1	11336	518	18	2		2	OSGIN1	16	83999180	Silent	SNP	C	TCGA-EJ-5526-01A-01D-1576-08		83999180	6355573	22	3158											
BANP	54971	broad.mit.edu	37	chr16	88061088	88061088	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccttggatgtgtccttccaGgtcaccttttctataaattt	7	18	6	10	0	2	0	1	0	1	0	5	1	5	1	4	2	0	0	4	2	3	7			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr16:88061088G>C	ENST00000393207.1	+	8	1092		c.e8-1		BANP_ENST00000538234.1_Splice_Site|BANP_ENST00000479780.2_Splice_Site|BANP_ENST00000393208.2_Splice_Site|BANP_ENST00000355022.4_Splice_Site|BANP_ENST00000355163.5_Splice_Site|BANP_ENST00000286122.7_Splice_Site	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein						cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.?(2)		NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		TGTCCTTCCAGGTCACCTTTT	0.612													10	111					0	0	0.361761	0	0	C	88061088	G	C	88061088	5	2	61	1	0	0	0	0	0	0	1	0	1308	1014	35	4	939	4	BANP	16	88061088	Splice_Site	SNP	G	TCGA-EJ-5526-01A-01D-1576-08	4061908	88061088	2293665	23	3159											
CBFA2T3	863	broad.mit.edu	37	chr16	88967911	88967911	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccaggtgggggctacttaCgtgtgtgtggcgtgaaggag	6	10	19	6	2	0	1	0	1	0	0	0	2	0	2	1	5	3	1	1	5	3	2			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr16:88967911C>A	ENST00000268679.4	-	2	701		c.e2+1		CBFA2T3_ENST00000448839.1_Intron|CBFA2T3_ENST00000436887.2_Splice_Site|CBFA2T3_ENST00000360302.2_Splice_Site|CBFA2T3_ENST00000327483.5_Splice_Site	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3						cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.?(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		GGGCTACTTACGTGTGTGTGG	0.677			T	RUNX1	AML								10	40					9.31168e-06	1.05532e-05	0.435327	1	0	A	88967911	C	A	88967911	5	1	61	1	0	0	0	0	0	0	1	0	2716	550	19	4	1700	4	CBFA2T3	16	88967911	Splice_Site	SNP	C	TCGA-EJ-5526-01A-01D-1576-08	906823	88967911	1386842	24	3160											
CXCL16	58191	broad.mit.edu	37	chr17	4638741	4638741	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctctgaggcctgagaaattgGggggctggtaggaagtaaat	11	9	16	5	0	1	2	0	2	1	1	1	4	1	3	1	6	0	3	1	6	5	3			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr17:4638741G>T	ENST00000293778.6	-	4	843	c.421C>A	c.(421-423)Cca>Aca	p.P141T	CXCL16_ENST00000574412.1_Missense_Mutation_p.P141T|CXCL16_ENST00000576153.1_5'UTR	NM_022059.2	NP_071342.2	Q9H2A7	CXL16_HUMAN	chemokine (C-X-C motif) ligand 16	122					lymphocyte chemotaxis|positive regulation of cell growth|positive regulation of cell migration|receptor-mediated endocytosis|response to interferon-gamma|response to tumor necrosis factor	extracellular space|integral to membrane|plasma membrane	chemokine activity|low-density lipoprotein receptor activity|scavenger receptor activity			large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5						TGAGAAATTGGGGGGCTGGTA	0.547													3	48					0.115264	0.125074	0.115264	1	0	T	4638741	G	T	4638741	3	4	61	1	0	0	0	0	1	0	0	0	4106	1232	43	4	408	4	CXCL16	17	4638741	Missense_Mutation	SNP	G	TCGA-EJ-5526-01A-01D-1576-08		4638741	76556469	25	3161											
PPP4R1	9989	broad.mit.edu	37	chr18	9547949	9547949	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcagaggccaagaaataGtctggaaatgacatgtgcat	14	8	12	7	0	1	3	0	1	1	2	1	4	1	4	1	3	1	2	1	3	4	1			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr18:9547949G>C	ENST00000400556.3	-	20	2764	c.2689_splice	c.e20-1	p.D897_splice	PPP4R1_ENST00000400555.3_Splice_Site_p.D880_splice	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	897					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity	p.D897E(1)		large_intestine(1)|skin(2)	3						CCAAGAAATAGTCTGGAAATG	0.478													24	41					0	0	0.667858	0	0	C	9547949	G	C	9547949	5	2	61	1	0	0	0	0	0	0	1	0	12452	1043	36	4	165	4	PPP4R1	18	9547949	Splice_Site	SNP	G	TCGA-EJ-5526-01A-01D-1576-08		9547949	68529299	26	3162											
PLIN3	10226	broad.mit.edu	37	chr19	4847750	4847750	+	Frame_Shift_Del	DEL	G	G	-																															cagagcctcctgtgccctctGcttggtggctcgaagcttgc																										TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr19:4847750delG	ENST00000221957.4	-	6	963	c.787delC	c.(787-789)agfs	p.Q263fs	PLIN3_ENST00000592528.1_Frame_Shift_Del_p.Q251fs|PLIN3_ENST00000585479.1_Frame_Shift_Del_p.Q263fs	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN	perilipin 3	263					vesicle-mediated transport	endosome membrane|Golgi apparatus|lipid particle	protein binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	TGTGCCCTCTGCTTGGTGGCT	0.662													9	16	---	---	---	---						-	4847750	G	-	4847750	7	5	61	1	0	1	0	1	0	0	0	0	12139	1328	46	0	529	0	PLIN3	19	4847750	Frame_Shift_Del	DEL	G	TCGA-EJ-5526-01A-01D-1576-08		4847750	54281233	27	3163											
COMP	1311	broad.mit.edu	37	chr19	18898325	18898325	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtcgatgtcgtcgtcgcaCgcatcgccccggccgtcctg	3	8	12	18	9	0	0	0	0	0	0	6	1	1	0	5	1	0	2	5	1	0	0			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr19:18898325C>G	ENST00000542601.2	-	9	1400	c.1011G>C	c.(1009-1011)gcG>gcC	p.A337A	COMP_ENST00000425807.1_Silent_p.A317A|COMP_ENST00000222271.2_Silent_p.A370A			P49747	COMP_HUMAN	cartilage oligomeric matrix protein	370					anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding	p.A370A(1)		breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						CGTCGTCGCACGCATCGCCCC	0.697													39	149					0	0	0.853193	0	0	G	18898325	C	G	18898325	2	3	61	1	0	0	0	0	0	0	0	1	3747	523	19	4		4	COMP	19	18898325	Silent	SNP	C	TCGA-EJ-5526-01A-01D-1576-08	14050575	18898325	40230658	28	3164											
KIF16B	55614	broad.mit.edu	37	chr20	16347999	16347999	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctgtaagaagactagttctActgttgacacatttttcttt	10	18	6	7	0	3	3	0	1	3	2	3	3	3	3	0	0	1	3	0	0	4	8			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr20:16347999A>C	ENST00000408042.1	-	23	4128	c.3971T>G	c.(3970-3972)gTa>gGa	p.V1324G	KIF16B_ENST00000354981.2_Intron|KIF16B_ENST00000378003.2_Intron|KIF16B_ENST00000355755.3_Intron	NM_001199866.1	NP_001186795.1	Q96L93	KI16B_HUMAN	kinesin family member 16B	0					cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	p.V1324G(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						GACTAGTTCTACTGTTGACAC	0.433													47	295					0	0	0.870114	0	0	C	16347999	A	C	16347999	3	2	61	1	0	0	0	0	1	0	0	0	8320	406	14	5		5	KIF16B	20	16347999	Missense_Mutation	SNP	A	TCGA-EJ-5526-01A-01D-1576-08		16347999	46677521	29	3165											
JPH2	57158	broad.mit.edu	37	chr20	42788455	42788455	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgtggtgcagccatagccGtggcgcaggttgtccagcca	7	7	15	12	3	0	0	0	0	0	0	1	0	1	0	4	3	5	3	4	3	1	2			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr20:42788455G>A	ENST00000372980.3	-	2	1844	c.972C>T	c.(970-972)caC>caT	p.H324H		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	324					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane		p.H324H(2)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			AGCCATAGCCGTGGCGCAGGT	0.662													4	13					0	0	0.38729	0	0	A	42788455	G	A	42788455	2	1	61	1	0	0	0	0	0	0	0	1	8005	1136	40	1		1	JPH2	20	42788455	Silent	SNP	G	TCGA-EJ-5526-01A-01D-1576-08	26440456	42788455	20237065	30	3166											
SAMSN1	64092	broad.mit.edu	37	chr21	15884893	15884893	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattctctccatcttcctcaTccttcagaaaacatatcaga	12	13	2	14	0	5	2	3	0	2	2	9	2	8	2	3	0	1	0	3	0	3	4			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr21:15884893T>A	ENST00000285670.2	-	5	659	c.483_splice	c.e5-1	p.D162_splice	SAMSN1_ENST00000400564.1_Intron|SAMSN1_ENST00000400566.1_Splice_Site_p.D94_splice	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	94					negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding	p.D162V(1)|p.D94V(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		ATCTTCCTCATCCTTCAGAAA	0.413													55	146					0	0	0.870114	0	0	A	15884893	T	A	15884893	5	1	61	1	0	0	0	0	0	0	1	0	13882	1449	50	5	860	5	SAMSN1	21	15884893	Splice_Site	SNP	T	TCGA-EJ-5526-01A-01D-1576-08		15884893	32245002	31	3167											
MYO18B	84700	broad.mit.edu	37	chr22	26299697	26299697	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctctctgggggaaaattgcGttgctggcttgaaggagagg	8	10	16	7	1	1	2	0	1	1	1	2	4	1	3	1	5	2	3	1	5	3	3			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chr22:26299697G>A	ENST00000335473.7	+	31	5297	c.5047G>A	c.(5047-5049)Gtt>Att	p.V1683I	MYO18B_ENST00000536204.1_3'UTR|MYO18B_ENST00000407587.2_Missense_Mutation_p.V1684I|MYO18B_ENST00000536101.1_Missense_Mutation_p.V1683I	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1683	Gln-rich.|Tail.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	p.V1684I(1)|p.V1683I(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GGAAAATTGCGTTGCTGGCTT	0.552													11	13					0	0	0.38729	0	0	A	26299697	G	A	26299697	3	1	61	1	0	0	0	0	1	0	0	0	10114	1145	40	1	5165	1	MYO18B	22	26299697	Missense_Mutation	SNP	G	TCGA-EJ-5526-01A-01D-1576-08		26299697	25004869	32	3168											
FAM47B	170062	broad.mit.edu	37	chrX	34961794	34961794	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgatactggagcgtcccaTctctgcccggagcctcccga	6	8	10	17	3	1	1	0	1	1	0	4	4	3	3	5	2	4	0	5	2	1	1			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chrX:34961794T>C	ENST00000329357.5	+	1	882	c.846T>C	c.(844-846)caT>caC	p.H282H		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	282	Pro-rich.							p.H282H(2)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GAGCGTCCCATCTCTGCCCGG	0.622													32	25					0	0	0.760397	0	0	C	34961794	T	C	34961794	2	2	61	1	0	0	0	0	0	0	0	1	5606	1432	50	3		3	FAM47B	23	34961794	Silent	SNP	T	TCGA-EJ-5526-01A-01D-1576-08		34961794	120308766	33	3169											
XK	7504	broad.mit.edu	37	chrX	37553558	37553558	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgttttgaagtcttctgcAtctactttcagtcaggcaac	8	15	9	9	0	5	1	2	1	3	0	5	1	5	1	0	2	3	3	0	2	3	5			TCGA-EJ-5526-01A-01D-1576-08	TCGA-EJ-5526-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28436e84-7985-4676-a36c-4b18f064db9a	764d600c-bbe7-4996-8f5d-4ec9a3adc6af	g.chrX:37553558A>G	ENST00000378616.3	+	2	468	c.265A>G	c.(265-267)Atc>Gtc	p.I89V	TM4SF2_ENST00000465127.1_Intron	NM_021083.2	NP_066569.1	P51811	XK_HUMAN	X-linked Kx blood group (McLeod syndrome)	89					amino acid transport	integral to membrane	protein binding|transporter activity	p.I89V(1)		breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				AGTCTTCTGCATCTACTTTCA	0.408													19	26					0	0	0.575678	0	0	G	37553558	A	G	37553558	3	3	61	1	0	0	0	0	1	0	0	0	17491	217	8	3	271	3	XK	23	37553558	Missense_Mutation	SNP	A	TCGA-EJ-5526-01A-01D-1576-08	2591764	37553558	117717002	34	3170											
CASZ1	54897	broad.mit.edu	37	chr1	10713982	10713982	+	Frame_Shift_Del	DEL	C	C	-																															cgtgctccgtgtccttggcgCccagcagcgagggcggcagc																										TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:10713982delC	ENST00000377022.3	-	11	2449	c.2132delG	c.(2131-2133)gcfs	p.G711fs	RP4-734G22.3_ENST00000606802.1_RNA|CASZ1_ENST00000344008.5_Frame_Shift_Del_p.G711fs	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	711					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GTCCTTGGCGCCCAGCAGCGA	0.662													9	124	---	---	---	---						-	10713982	C	-	10713982	7	5	62	1	0	1	0	1	0	0	0	0	2703	739	26	0	3195	0	CASZ1	1	10713982	Frame_Shift_Del	DEL	C	TCGA-EJ-5527-01A-01D-1576-08		10713982	238536639	1	3171											
PLA2G2A	5320	broad.mit.edu	37	chr1	20304968	20304968	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcttcctttcctgtcgtcaaCttgatcattctgtggaaatt	7	17	7	10	1	3	1	2	1	1	0	6	2	5	2	2	1	1	1	2	1	2	5			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:20304968C>G	ENST00000375111.3	-	4	361	c.90G>C	c.(88-90)aaG>aaC	p.K30N	PLA2G2A_ENST00000400520.3_Missense_Mutation_p.K30N|PLA2G2A_ENST00000496748.1_5'UTR	NM_000300.3|NM_001161727.1	NP_000291.1|NP_001155199.1	P14555	PA2GA_HUMAN	phospholipase A2, group IIA (platelets, synovial fluid)	30					defense response to Gram-positive bacterium|lipid catabolic process|low-density lipoprotein particle remodeling|phosphatidic acid metabolic process|positive regulation of inflammatory response|positive regulation of macrophage derived foam cell differentiation	endoplasmic reticulum|extracellular space|membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|phospholipid binding	p.K30N(1)		central_nervous_system(1)|lung(6)|prostate(1)|stomach(1)	9		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000138)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.00032)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CTGTCGTCAACTTGATCATTC	0.557													12	61					0	0	0.00136819	0	0	G	20304968	C	G	20304968	3	3	62	1	0	0	0	0	1	0	0	0	12043	564	20	4	356	4	PLA2G2A	1	20304968	Missense_Mutation	SNP	C	TCGA-EJ-5527-01A-01D-1576-08	9590986	20304968	228945653	2	3172											
SPATA6	54558	broad.mit.edu	37	chr1	48865161	48865161	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagggagatggagagtgtgaTtttgaagaaattgtaggctg	12	12	16	1	0	0	5	0	2	0	3	0	7	0	5	0	3	0	2	0	3	4	5			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:48865161T>C	ENST00000371847.3	-	7	806	c.642A>G	c.(640-642)aaA>aaG	p.K214K	SPATA6_ENST00000396199.3_Silent_p.K142K|SPATA6_ENST00000463938.1_5'UTR|SPATA6_ENST00000371843.3_Silent_p.K214K	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	214					cell differentiation|multicellular organismal development|spermatogenesis	extracellular region		p.K214K(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						GAGAGTGTGATTTTGAAGAAA	0.413													9	505					0	0	0.00448238	0	0	C	48865161	T	C	48865161	2	2	62	1	0	0	0	0	0	0	0	1	15069	1490	52	3		3	SPATA6	1	48865161	Silent	SNP	T	TCGA-EJ-5527-01A-01D-1576-08	28560193	48865161	200385460	3	3173											
ABCA4	24	broad.mit.edu	37	chr1	94508397	94508397	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgggttcgtccagaatcAccaccttggcatctcccaca	9	9	9	14	1	2	1	1	0	1	1	5	1	3	1	4	3	0	2	4	3	1	2			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:94508397A>G	ENST00000370225.3	-	22	3334	c.3248T>C	c.(3247-3249)gTg>gCg	p.V1083A		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1083	ABC transporter 1.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.V1083A(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GTCCAGAATCACCACCTTGGC	0.567													9	144					0	0	0.000442599	0	0	G	94508397	A	G	94508397	3	3	62	1	0	0	0	0	1	0	0	0	34	159	6	3	3689	3	ABCA4	1	94508397	Missense_Mutation	SNP	A	TCGA-EJ-5527-01A-01D-1576-08	45643236	94508397	154742224	4	3174											
HIPK1	204851	broad.mit.edu	37	chr1	114510461	114510461	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctgactaaccatgtgacaTtggccactgctcagcctctg	8	11	9	13	0	2	2	1	2	1	0	2	2	2	2	3	1	4	2	3	1	1	2			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:114510461T>C	ENST00000369558.1	+	12	2687	c.2455T>C	c.(2455-2457)Ttg>Ctg	p.L819L	HIPK1_ENST00000406344.1_Silent_p.L425L|HIPK1_ENST00000369554.2_Silent_p.L774L|HIPK1_ENST00000369555.2_Silent_p.L774L|HIPK1_ENST00000369561.4_Silent_p.L785L|HIPK1_ENST00000369559.4_Silent_p.L819L|HIPK1_ENST00000340480.4_Silent_p.L445L|HIPK1_ENST00000369553.1_Silent_p.L425L|HIPK1_ENST00000426820.2_Silent_p.L819L			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	819					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.L819L(3)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCATGTGACATTGGCCACTGC	0.488													7	210					0	0	0.00198382	0	0	C	114510461	T	C	114510461	2	2	62	1	0	0	0	0	0	0	0	1	7157	1490	52	3		3	HIPK1	1	114510461	Silent	SNP	T	TCGA-EJ-5527-01A-01D-1576-08	20002064	114510461	134740160	5	3175											
FCRL4	83417	broad.mit.edu	37	chr1	157558993	157558993	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctaattcaccttctttctcaCctgaagaaaagagcaagcgc	13	10	6	12	1	3	3	2	1	2	2	4	3	3	3	2	0	2	1	2	0	5	4			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:157558993C>G	ENST00000271532.1	-	3	443		c.e3+1		FCRL4_ENST00000448509.2_Splice_Site	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4							integral to membrane|plasma membrane	receptor activity	p.?(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				TTCTTTCTCACCTGAAGAAAA	0.493													18	146					0	0	0.000958276	0	0	G	157558993	C	G	157558993	5	3	62	1	0	0	0	0	0	0	1	0	5830	521	18	4	1279	4	FCRL4	1	157558993	Splice_Site	SNP	C	TCGA-EJ-5527-01A-01D-1576-08	43048532	157558993	91691628	6	3176											
KIF21B	23046	broad.mit.edu	37	chr1	200978472	200978472	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacacaggtggaatagatCtgttcttgccaggtgtccag	9	11	11	10	0	3	1	1	0	2	1	4	2	4	2	2	3	1	1	2	3	2	3			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:200978472C>A	ENST00000332129.2	-	2	502	c.186G>T	c.(184-186)caG>caT	p.Q62H	KIF21B_ENST00000422435.2_Missense_Mutation_p.Q62H|KIF21B_ENST00000360529.5_Missense_Mutation_p.Q62H|KIF21B_ENST00000461742.2_Missense_Mutation_p.Q62H	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	62	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.Q62H(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TGGAATAGATCTGTTCTTGCC	0.572													11	99					3.86212e-05	0.000108557	0.000673444	1	0	A	200978472	C	A	200978472	3	1	62	1	0	0	0	0	1	0	0	0	8331	912	32	4	4820	4	KIF21B	1	200978472	Missense_Mutation	SNP	C	TCGA-EJ-5527-01A-01D-1576-08	43419479	200978472	48272149	7	3177											
IPO9	55705	broad.mit.edu	37	chr1	201836000	201836000	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgatggagaccctgtgcatcGtttgtacagtagaccccgaa	10	10	11	10	2	0	3	0	1	0	2	1	5	0	3	3	1	2	4	3	1	3	3			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:201836000G>A	ENST00000361565.4	+	15	1837	c.1768G>A	c.(1768-1770)Gtt>Att	p.V590I		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	590					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						CCTGTGCATCGTTTGTACAGT	0.517													6	290					0	0	0.00198382	0	0	A	201836000	G	A	201836000	3	1	62	1	0	0	0	0	1	0	0	0	7843	1145	40	1	1826	1	IPO9	1	201836000	Missense_Mutation	SNP	G	TCGA-EJ-5527-01A-01D-1576-08	857528	201836000	47414621	8	3178											
TRAF3IP3	80342	broad.mit.edu	37	chr1	209953928	209953928	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctgcaaaagaagactttgCagctccaggccaaggaaaag	16	5	11	9	0	0	2	0	0	0	2	1	3	1	3	2	2	4	4	2	2	6	1			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr1:209953928C>T	ENST00000367024.1	+	15	1942	c.1426C>T	c.(1426-1428)Cag>Tag	p.Q476*	TRAF3IP3_ENST00000367025.3_Nonsense_Mutation_p.Q476*|TRAF3IP3_ENST00000367026.3_Nonsense_Mutation_p.Q456*|TRAF3IP3_ENST00000477431.1_Intron|TRAF3IP3_ENST00000010338.4_Nonsense_Mutation_p.Q456*			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	476						integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		GAAGACTTTGCAGCTCCAGGC	0.527													4	125					0	0	0.00024832	0	0	T	209953928	C	T	209953928	4	4	62	1	0	0	0	0	0	1	0	0	16503	711	25	2	1476	2	TRAF3IP3	1	209953928	Nonsense_Mutation	SNP	C	TCGA-EJ-5527-01A-01D-1576-08	8117928	209953928	39296693	9	3179											
MAL	4118	broad.mit.edu	37	chr2	95713710	95713710	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcccccgcagatcttcGggggcctggtgtggatcctg	3	10	13	15	2	1	1	0	0	1	1	5	2	4	2	5	4	0	1	5	4	0	1			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr2:95713710G>A	ENST00000309988.4	+	2	209	c.100G>A	c.(100-102)Ggg>Agg	p.G34R	MAL_ENST00000349807.3_Intron|MAL_ENST00000353004.3_Missense_Mutation_p.G34R|MAL_ENST00000354078.3_Intron	NM_002371.3	NP_002362.1	P21145	MAL_HUMAN	mal, T-cell differentiation protein	34	MARVEL.				apical protein localization|cell differentiation|central nervous system development|induction of apoptosis|membrane raft polarization|myelination	apical plasma membrane|endoplasmic reticulum|endosome|integral to plasma membrane|membrane raft	apoptotic protease activator activity|channel activity|lipid binding|structural constituent of myelin sheath	p.G34R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(2)	10				STAD - Stomach adenocarcinoma(1183;0.18)		GCAGATCTTCGGGGGCCTGGT	0.667													26	60					0	0	0.001512	0	0	A	95713710	G	A	95713710	3	1	62	1	0	0	0	0	1	0	0	0	9249	1116	39	1	106	1	MAL	2	95713710	Missense_Mutation	SNP	G	TCGA-EJ-5527-01A-01D-1576-08		95713710	147485663	10	3180											
XIRP2	129446	broad.mit.edu	37	chr2	168099282	168099282	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcccccacctgacgtactTcaaacttcagtagatgtgac	10	10	6	15	1	2	3	2	2	0	1	3	3	3	3	4	0	2	2	4	0	3	4			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr2:168099282T>G	ENST00000409195.1	+	9	1469	c.1380T>G	c.(1378-1380)ctT>ctG	p.L460L	XIRP2_ENST00000409273.1_Silent_p.L238L|XIRP2_ENST00000295237.9_Silent_p.L460L|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	285					actin cytoskeleton organization	cell junction	actin binding	p.L460L(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CTGACGTACTTCAAACTTCAG	0.448													24	188					0	0	0.00395357	0	0	G	168099282	T	G	168099282	2	3	62	1	0	0	0	0	0	0	0	1	17490	1770	62	5		5	XIRP2	2	168099282	Silent	SNP	T	TCGA-EJ-5527-01A-01D-1576-08	72385572	168099282	75100091	11	3181											
CCNYL1	151195	broad.mit.edu	37	chr2	208618360	208618362	+	In_Frame_Del	DEL	AGA	AGA	-																															acttgtgtagagccgctatgAgaaggtctttcagtgctgat																										TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr2:208618360_208618362delAGA	ENST00000295414.3	+	10	1229_1231	c.1018_1020delAGA	c.(1018-1020)del	p.R341del	CCNYL1_ENST00000339882.5_In_Frame_Del_p.R290del|CCNYL1_ENST00000392209.3_In_Frame_Del_p.R271del|CCNYL1_ENST00000468768.1_3'UTR			Q8N7R7	CCYL1_HUMAN	cyclin Y-like 1	341					regulation of cyclin-dependent protein kinase activity		protein kinase binding			endometrium(1)|large_intestine(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0731)|Epithelial(149;0.139)|Lung(261;0.14)		AGCCGCTATGAGAAGGTCTTTCA	0.404													72	356	---	---	---	---						-	208618362	AGA	-	208618360	7	5	62	1	0	1	0	1	0	0	0	0	2959	296	11	0	1056	0	CCNYL1	2	208618360	In_Frame_Del	DEL	AGA	TCGA-EJ-5527-01A-01D-1576-08	40519078	208618360	34581013	12	3182											
DOCK10	55619	broad.mit.edu	37	chr2	225670001	225670001	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgatctaacttgtcaaatcGaagagttgagccaatcaaag	15	11	8	7	1	3	3	2	2	1	1	4	4	3	3	1	0	2	1	1	0	5	4			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr2:225670001G>A	ENST00000409592.3	-	36	4068	c.3955C>T	c.(3955-3957)Cga>Tga	p.R1319*	DOCK10_ENST00000258390.7_Nonsense_Mutation_p.R1325*			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1325							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TTGTCAAATCGAAGAGTTGAG	0.398													7	337					0	0	0.00307968	0	0	A	225670001	G	A	225670001	4	1	62	1	0	0	0	0	0	1	0	0	4712	1066	37	1	2671	1	DOCK10	2	225670001	Nonsense_Mutation	SNP	G	TCGA-EJ-5527-01A-01D-1576-08	17051641	225670001	17529372	13	3183											
TRIP12	9320	broad.mit.edu	37	chr2	230657838	230657838	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgaaaaattttaaagccTgtgatcctctgttgagagaa	13	14	9	5	0	1	4	0	3	1	1	2	5	2	4	2	0	1	2	2	0	5	4			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr2:230657838T>C	ENST00000283943.5	-	26	3945	c.3767A>G	c.(3766-3768)cAg>cGg	p.Q1256R	TRIP12_ENST00000389044.4_Missense_Mutation_p.Q1304R|TRIP12_ENST00000389045.3_Missense_Mutation_p.Q986R	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1256					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	p.Q1256R(1)		breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TTTTAAAGCCTGTGATCCTCT	0.328													16	119					0	0	0.00316338	0	0	C	230657838	T	C	230657838	3	2	62	1	0	0	0	0	1	0	0	0	16617	1580	55	3	2275	3	TRIP12	2	230657838	Missense_Mutation	SNP	T	TCGA-EJ-5527-01A-01D-1576-08	4987837	230657838	12541535	14	3184											
OXSM	54995	broad.mit.edu	37	chr3	25833004	25833004	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagttgtttctgaaactgctTtgaattttcagacaaaaggt	13	15	8	5	0	2	3	1	2	1	1	2	3	2	3	0	1	2	3	0	1	5	5			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr3:25833004T>C	ENST00000280701.3	+	2	592	c.493T>C	c.(493-495)Ttg>Ctg	p.L165L	OXSM_ENST00000420173.2_Silent_p.L165L|OXSM_ENST00000449808.1_Intron	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	165					acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity	p.L165L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						TGAAACTGCTTTGAATTTTCA	0.423													29	268					0	0	0.00178596	0	0	C	25833004	T	C	25833004	2	2	62	1	0	0	0	0	0	0	0	1	11382	1838	64	3		3	OXSM	3	25833004	Silent	SNP	T	TCGA-EJ-5527-01A-01D-1576-08		25833004	172189426	15	3185											
LRRFIP2	9209	broad.mit.edu	37	chr3	37125219	37125219	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtgtctacttggtagatcaAattgttcttctcattgtcta	8	19	7	7	0	5	1	2	0	4	1	6	1	5	1	0	1	1	2	0	1	4	8			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr3:37125219A>G	ENST00000421307.1	-	20	1608	c.1186T>C	c.(1186-1188)Ttg>Ctg	p.L396L	LRRFIP2_ENST00000440230.1_Silent_p.L164L|LRRFIP2_ENST00000336686.4_Silent_p.L396L|LRRFIP2_ENST00000396428.2_Silent_p.L212L|LRRFIP2_ENST00000354379.4_Silent_p.L140L|LRRFIP2_ENST00000421276.2_Silent_p.L164L	NM_006309.2	NP_006300.1	Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2	396					Wnt receptor signaling pathway		LRR domain binding	p.L396L(1)|p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						TGGTAGATCAAATTGTTCTTC	0.353													58	207					0	0	0.00361006	0	0	G	37125219	A	G	37125219	2	3	62	1	0	0	0	0	0	0	0	1	9073	11	1	3		3	LRRFIP2	3	37125219	Silent	SNP	A	TCGA-EJ-5527-01A-01D-1576-08	11292215	37125219	160897211	16	3186											
CCDC13	152206	broad.mit.edu	37	chr3	42784452	42784452	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaggtttttctcctgtgccGacagcttccttgggtctgga	4	14	12	11	1	2	0	0	0	2	0	4	2	3	1	3	3	2	3	3	3	0	4	rs143310118	by1000genomes	TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr3:42784452G>A	ENST00000310232.6	-	8	1006	c.923C>T	c.(922-924)tCg>tTg	p.S308L	CCDC13-AS1_ENST00000418161.1_RNA|CCDC13-AS1_ENST00000446950.1_RNA	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	308								p.S308L(1)		endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						CTCCTGTGCCGACAGCTTCCT	0.572													10	276					0	0	0.000978159	0	0	A	42784452	G	A	42784452	3	1	62	1	0	0	0	0	1	0	0	0	2783	1059	37	1	1260	1	CCDC13	3	42784452	Missense_Mutation	SNP	G	TCGA-EJ-5527-01A-01D-1576-08	5659233	42784452	155237978	17	3187											
MORC1	27136	broad.mit.edu	37	chr3	108724127	108724127	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattcatgcttcaagtcatcGcccaaaagcctgattttctg	10	13	7	11	1	4	1	3	1	1	0	5	2	4	1	2	0	2	1	2	0	3	4			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr3:108724127G>A	ENST00000232603.5	-	19	1885	c.1803C>T	c.(1801-1803)ggC>ggT	p.G601G	MORC1_ENST00000483760.1_Silent_p.G580G	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	601					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	p.G601G(2)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TCAAGTCATCGCCCAAAAGCC	0.353													7	153					0	0	0.00198382	0	0	A	108724127	G	A	108724127	2	1	62	1	0	0	0	0	0	0	0	1	9750	1074	38	1		1	MORC1	3	108724127	Silent	SNP	G	TCGA-EJ-5527-01A-01D-1576-08	65939675	108724127	89298303	18	3188											
IFT80	57560	broad.mit.edu	37	chr3	160037613	160037613	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccaatgttgttccaccaCatgtgcaaaaacgacatgtc	12	10	6	13	1	0	0	0	0	0	0	3	1	2	0	3	0	2	3	3	0	3	2			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr3:160037613C>T	ENST00000326448.7	-	9	1324	c.892G>A	c.(892-894)Gtg>Atg	p.V298M	IFT80_ENST00000496589.1_Missense_Mutation_p.V161M|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.V469M|IFT80_ENST00000483465.1_Missense_Mutation_p.V161M	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80 homolog (Chlamydomonas)	298						cilium axoneme|microtubule basal body		p.V298M(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TGTTCCACCACATGTGCAAAA	0.398													8	219					0	0	0.00307968	0	0	T	160037613	C	T	160037613	3	4	62	1	0	0	0	0	1	0	0	0	7608	478	17	2	1489	2	IFT80	3	160037613	Missense_Mutation	SNP	C	TCGA-EJ-5527-01A-01D-1576-08	51313486	160037613	37984817	19	3189											
AHSG	197	broad.mit.edu	37	chr3	186331026	186331026	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttatagacaaccgaactgCgatgatccagaaactgagga	16	8	9	8	2	0	4	0	2	0	2	1	7	1	5	2	1	4	0	2	1	5	3			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr3:186331026C>T	ENST00000411641.2	+	1	315	c.96C>T	c.(94-96)tgC>tgT	p.C32C	AHSG_ENST00000273784.5_Silent_p.C32C			P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	32	Cystatin fetuin-A-type 1.				acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding	p.C32C(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		AACCGAACTGCGATGATCCAG	0.512													5	108					0	0	0.000602214	0	0	T	186331026	C	T	186331026	2	4	62	1	0	0	0	0	0	0	0	1	417	776	27	1		1	AHSG	3	186331026	Silent	SNP	C	TCGA-EJ-5527-01A-01D-1576-08	26293413	186331026	11691404	20	3190											
ARAP2	116984	broad.mit.edu	37	chr4	36130284	36130284	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agccctcaatttaaagcttcTtgcatcctttttgaaactct	10	16	4	11	0	3	1	1	1	2	0	4	1	4	1	2	0	4	2	2	0	4	6			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr4:36130284T>G	ENST00000303965.4	-	21	4000	c.3511A>C	c.(3511-3513)Aga>Cga	p.R1171R		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1171	Rho-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	p.R1171R(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TTAAAGCTTCTTGCATCCTTT	0.358													11	175					0	0	0.00185496	0	0	G	36130284	T	G	36130284	2	3	62	1	0	0	0	0	0	0	0	1	836	1617	56	5		5	ARAP2	4	36130284	Silent	SNP	T	TCGA-EJ-5527-01A-01D-1576-08		36130284	155023992	21	3191											
KDR	3791	broad.mit.edu	37	chr4	55956221	55956221	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccgataagaggatatttcGtgccgccaggtccctgtgga	8	10	12	11	3	0	1	0	0	0	1	3	4	2	3	4	3	1	0	4	3	2	3			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr4:55956221G>A	ENST00000263923.4	-	23	3389	c.3094C>T	c.(3094-3096)Cga>Tga	p.R1032*	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1032	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	p.R1032*(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	AGGATATTTCGTGCCGCCAGG	0.448			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)			7	210					0	0	0.00307968	0	0	A	55956221	G	A	55956221	4	1	62	1	0	0	0	0	0	1	0	0	8182	1153	40	1	1008	1	KDR	4	55956221	Nonsense_Mutation	SNP	G	TCGA-EJ-5527-01A-01D-1576-08	19825937	55956221	135198055	22	3192											
UBA6	55236	broad.mit.edu	37	chr4	68529609	68529610	+	Frame_Shift_Ins	INS	-	-	T																															agtgtttatttacctcagggINSttgctaaaatccacaataag																										TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr4:68529609_68529610insT	ENST00000322244.4	-	11	1012_1013	c.953_954insA	c.(952-954)accfs	p.T318fs	UBA6_ENST00000420827.2_Frame_Shift_Ins_p.T318fs	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	318					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						TTACCTCAGGGTTGCTAAAATC	0.386													8	279	---	---	---	---						T	68529610	-	T	68529609	7	5	62	1	0	1	1	0	0	0	0	0	16893	1252	44	0	2296	0	UBA6	4	68529609	Frame_Shift_Ins	INS	-	TCGA-EJ-5527-01A-01D-1576-08	12573388	68529609	122624667	23	3193											
MRPL1	65008	broad.mit.edu	37	chr4	78784032	78784032	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgtaaggtgcatgggtagAggtaaggcgaggggttgtct	8	9	19	5	2	1	1	0	0	1	1	1	2	1	1	1	6	1	5	1	6	3	4			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr4:78784032A>C	ENST00000315567.8	+	1	359	c.31_splice	c.e1+1	p.R10_splice		NM_020236.3	NP_064621.3	Q9BYD6	RM01_HUMAN	mitochondrial ribosomal protein L1	10							RNA binding	p.R10S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						GCATGGGTAGAGGTAAGGCGA	0.537													6	169					0	0	0.00198382	0	0	C	78784032	A	C	78784032	5	2	62	1	0	0	0	0	0	0	1	0	9823	318	11	5	32	5	MRPL1	4	78784032	Splice_Site	SNP	A	TCGA-EJ-5527-01A-01D-1576-08	10254423	78784032	112370244	24	3194											
FAM105B	90268	broad.mit.edu	37	chr5	14687628	14687628	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctttgtttctcgatgttgtAgttaccagaaaaactcataa	12	16	6	7	1	3	1	1	0	2	1	4	2	3	1	1	0	2	4	1	0	5	6			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr5:14687628A>T	ENST00000284274.4	+	5	546		c.e5-1			NM_138348.4	NP_612357.4	Q96BN8	F105B_HUMAN	family with sequence similarity 105, member B											breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	14	Lung NSC(4;0.00696)					TCGATGTTGTAGTTACCAGAA	0.348													5	192					0	0	0.000602214	0	0	T	14687628	A	T	14687628	5	4	62	1	0	0	0	0	0	0	1	0	5419	434	15	5	485	5	FAM105B	5	14687628	Splice_Site	SNP	A	TCGA-EJ-5527-01A-01D-1576-08		14687628	166227632	25	3195											
FBXL7	23194	broad.mit.edu	37	chr5	15928553	15928553	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgttacaatatctccaacGaggccgtctttgatgtggtg	8	13	11	9	2	2	1	0	1	2	0	3	2	2	1	2	2	2	2	2	2	4	3			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr5:15928553G>A	ENST00000504595.1	+	3	1163	c.682G>A	c.(682-684)Gag>Aag	p.E228K	FBXL7_ENST00000510662.1_Missense_Mutation_p.E181K|FBXL7_ENST00000329673.7_Missense_Mutation_p.E216K	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	228					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						TATCTCCAACGAGGCCGTCTT	0.582													5	173					0	0	0.000602214	0	0	A	15928553	G	A	15928553	3	1	62	1	0	0	0	0	1	0	0	0	5757	1059	37	1	692	1	FBXL7	5	15928553	Missense_Mutation	SNP	G	TCGA-EJ-5527-01A-01D-1576-08	1240925	15928553	164986707	26	3196											
ADRB2	154	broad.mit.edu	37	chr5	148207351	148207351	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggataggctatgtcaattcTggtttcaatccccttatcta	9	16	7	9	0	4	0	2	0	2	0	5	1	5	1	2	3	0	2	2	3	6	6			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr5:148207351T>G	ENST00000305988.4	+	1	1196	c.957T>G	c.(955-957)tcT>tcG	p.S319S		NM_000024.5	NP_000015.1	P07550	ADRB2_HUMAN	adrenoceptor beta 2, surface	319					activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity	p.S319S(1)		endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)	ATGTCAATTCTGGTTTCAATC	0.478													15	142					0	0	0.00244969	0	0	G	148207351	T	G	148207351	2	3	62	1	0	0	0	0	0	0	0	1	340	1567	55	5		5	ADRB2	5	148207351	Silent	SNP	T	TCGA-EJ-5527-01A-01D-1576-08	132278798	148207351	32707909	27	3197											
LARP1	23367	broad.mit.edu	37	chr5	154181820	154181820	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acattacatgcgccggcaccCagggggggaccgcacaggca	10	3	14	14	3	0	0	0	0	0	0	0	1	0	1	3	5	2	3	3	5	1	1			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr5:154181820C>A	ENST00000336314.4	+	11	1763	c.1739C>A	c.(1738-1740)cCa>cAa	p.P580Q		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	657							protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CGCCGGCACCCAGGGGGGGAC	0.547													6	196					0.00116845	0.00315632	0.00116845	1	0	A	154181820	C	A	154181820	3	1	62	1	0	0	0	0	1	0	0	0	8667	594	21	4	1781	4	LARP1	5	154181820	Missense_Mutation	SNP	C	TCGA-EJ-5527-01A-01D-1576-08	5974469	154181820	26733440	28	3198											
HAVCR1	26762	broad.mit.edu	37	chr5	156479438	156479438	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agagacagttgttgtcactgGaacacttgttgttgttggaa	10	14	12	5	0	1	1	1	0	0	1	1	4	1	3	0	2	1	5	0	2	2	6			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr5:156479438G>A	ENST00000339252.3	-	3	1139	c.607C>T	c.(607-609)Cca>Tca	p.P203S	HAVCR1_ENST00000544197.1_Missense_Mutation_p.P203S|HAVCR1_ENST00000425854.1_Missense_Mutation_p.P203S|HAVCR1_ENST00000523175.1_Missense_Mutation_p.P203S|HAVCR1_ENST00000522693.1_Missense_Mutation_p.P203S	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	198	Thr-rich.				interspecies interaction between organisms	integral to membrane	receptor activity	p.P203S(1)		endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTTGTCACTGGAACACTTGTT	0.468													67	448					0	0	0.00361006	0	0	A	156479438	G	A	156479438	3	1	62	1	0	0	0	0	1	0	0	0	7014	1174	41	2	511	2	HAVCR1	5	156479438	Missense_Mutation	SNP	G	TCGA-EJ-5527-01A-01D-1576-08	2297618	156479438	24435822	29	3199											
SH3PXD2B	285590	broad.mit.edu	37	chr5	171821588	171821588	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttacagtattcatcaattggTatcaggcgtttgacagccac	11	13	8	9	1	3	1	3	1	0	0	3	1	3	1	1	2	2	3	1	2	4	6			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr5:171821588T>G	ENST00000311601.5	-	4	458	c.288A>C	c.(286-288)atA>atC	p.I96I	SH3PXD2B_ENST00000519643.1_Silent_p.I96I	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	96	PX.				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding	p.I96I(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CATCAATTGGTATCAGGCGTT	0.468													9	67					0	0	0.000442599	0	0	G	171821588	T	G	171821588	2	3	62	1	0	0	0	0	0	0	0	1	14312	1628	57	5		5	SH3PXD2B	5	171821588	Silent	SNP	T	TCGA-EJ-5527-01A-01D-1576-08	15342150	171821588	9093672	30	3200											
SLC22A7	10864	broad.mit.edu	37	chr6	43270068	43270068	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctggtctacttgtcggtgCgctacgcaggacgccgcctc	4	10	13	14	5	1	0	0	0	1	0	3	1	1	1	2	3	4	3	2	3	2	3			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr6:43270068C>T	ENST00000372585.5	+	8	1287	c.1192C>T	c.(1192-1194)Cgc>Tgc	p.R398C	SLC22A7_ENST00000372574.3_Missense_Mutation_p.R396C|SLC22A7_ENST00000372589.3_Missense_Mutation_p.R396C	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	398						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity	p.R398C(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			CTTGTCGGTGCGCTACGCAGG	0.637													14	35					0	0	0.00316338	0	0	T	43270068	C	T	43270068	3	4	62	1	0	0	0	0	1	0	0	0	14514	768	27	1	1218	1	SLC22A7	6	43270068	Missense_Mutation	SNP	C	TCGA-EJ-5527-01A-01D-1576-08		43270068	127844999	31	3201											
GRM3	0	broad.mit.edu	37	chr7	86468360	86468360	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtccccacttcccagtgcagCgacccctgtgcccccaatga	7	7	8	19	1	0	1	0	1	0	0	2	2	2	1	7	0	3	1	7	0	1	1			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr7:86468360C>T	ENST00000361669.2	+	4	2629	c.1530C>T	c.(1528-1530)agC>agT	p.S510S	GRM3_ENST00000439827.1_Intron|GRM3_ENST00000546348.1_Silent_p.S102S|GRM3_ENST00000536043.1_Silent_p.S382S|GRM3_ENST00000394720.2_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	510					synaptic transmission	integral to plasma membrane		p.S510S(1)		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)	CCCAGTGCAGCGACCCCTGTG	0.512													35	134					0	0	0.0024448	0	0	T	86468360	C	T	86468360	2	4	62	1	0	0	0	0	0	0	0	1	6839	767	27	1		1	GRM3	7	86468360	Silent	SNP	C	TCGA-EJ-5527-01A-01D-1576-08		86468360	72670303	32	3202											
LRGUK	136332	broad.mit.edu	37	chr7	133859312	133859312	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctttgattgaacagattgCtgagctgagagaaatagaat	14	13	10	4	0	1	7	0	4	1	3	1	8	1	7	0	0	3	2	0	0	4	5			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr7:133859312C>T	ENST00000285928.2	+	8	1013	c.944C>T	c.(943-945)gCt>gTt	p.A315V		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	315							ATP binding|kinase activity	p.A315V(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						GAACAGATTGCTGAGCTGAGA	0.313													6	185					0	0	0.00198382	0	0	T	133859312	C	T	133859312	3	4	62	1	0	0	0	0	1	0	0	0	8988	797	28	2	974	2	LRGUK	7	133859312	Missense_Mutation	SNP	C	TCGA-EJ-5527-01A-01D-1576-08	47390952	133859312	25279351	33	3203											
RCL1	10171	broad.mit.edu	37	chr9	4841318	4841318	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caagttcatacctgatatctAtatttacacagatcacatga	15	13	4	9	0	3	3	2	2	1	1	3	3	3	3	1	0	2	1	1	0	6	7			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr9:4841318A>G	ENST00000381750.4	+	6	894	c.671A>G	c.(670-672)tAt>tGt	p.Y224C	RCL1_ENST00000381728.1_Missense_Mutation_p.Y38C|RCL1_ENST00000381730.1_Missense_Mutation_p.Y38C|RCL1_ENST00000448872.2_Missense_Mutation_p.Y38C	NM_005772.3	NP_005763.3	Q9Y2P8	RCL1_HUMAN	RNA terminal phosphate cyclase-like 1	224					ribosome biogenesis|RNA processing	nucleolus	RNA-3'-phosphate cyclase activity			breast(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0206)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0244)		CCTGATATCTATATTTACACA	0.438													4	287					0	0	0.00024832	0	0	G	4841318	A	G	4841318	3	3	62	1	0	0	0	0	1	0	0	0	13230	449	16	3	693	3	RCL1	9	4841318	Missense_Mutation	SNP	A	TCGA-EJ-5527-01A-01D-1576-08		4841318	136372113	34	3204											
SURF4	6836	broad.mit.edu	37	chr9	136231748	136231748	+	Frame_Shift_Del	DEL	T	T	-																															ggcgtcaaagtgaaggagggTcatgaacatcagaaccagca																										TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr9:136231748delT	ENST00000371989.3	-	5	640	c.511delA	c.(511-513)ccfs	p.T171fs	SURF4_ENST00000467910.1_5'UTR|SURF4_ENST00000485435.2_Intron|SURF4_ENST00000545297.1_Intron|SURF4_ENST00000371991.3_Frame_Shift_Del_p.T171fs	NM_033161.2	NP_149351.1	O15260	SURF4_HUMAN	surfeit 4	171						endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding			kidney(1)|large_intestine(2)|lung(5)	8				OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)		TGAAGGAGGGTCATGAACATC	0.562													12	69	---	---	---	---						-	136231748	T	-	136231748	7	5	62	1	0	1	0	1	0	0	0	0	15461	1667	58	0	306	0	SURF4	9	136231748	Frame_Shift_Del	DEL	T	TCGA-EJ-5527-01A-01D-1576-08	131390430	136231748	4981683	35	3205											
ADAMTS13	11093	broad.mit.edu	37	chr9	136313725	136313725	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttgtccacgcaggtctgAtggagctgcgtttcctgtgc	4	13	13	11	2	1	1	0	1	1	0	3	2	3	2	2	2	3	4	2	2	0	2			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr9:136313725A>C	ENST00000371929.3	+	22	3181	c.2737A>C	c.(2737-2739)Atg>Ctg	p.M913L	ADAMTS13_ENST00000536611.1_3'UTR|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.M882L|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.M913L|ADAMTS13_ENST00000485925.1_3'UTR	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	913	TSP type-1 5.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding	p.M913L(2)		central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CGCAGGTCTGATGGAGCTGCG	0.632													8	345					0	0	0.000442599	0	0	C	136313725	A	C	136313725	3	2	62	1	0	0	0	0	1	0	0	0	257	333	12	5	2823	5	ADAMTS13	9	136313725	Missense_Mutation	SNP	A	TCGA-EJ-5527-01A-01D-1576-08	81977	136313725	4899706	36	3206											
UAP1L1	91373	broad.mit.edu	37	chr9	139975242	139975242	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcaccgctcgccaggcccTgctcacccagcactaccggt	6	5	9	21	4	1	0	1	0	0	0	2	0	1	0	6	2	3	4	6	2	1	1			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr9:139975242T>A	ENST00000409858.3	+	7	1312	c.1280T>A	c.(1279-1281)cTg>cAg	p.L427Q	UAP1L1_ENST00000360271.3_Missense_Mutation_p.L304Q	NM_207309.2	NP_997192.2	Q3KQV9	UAP1L_HUMAN	UDP-N-acteylglucosamine pyrophosphorylase 1-like 1	427							nucleotidyltransferase activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		CGCCAGGCCCTGCTCACCCAG	0.677													4	92					0	0	0.000602214	0	0	A	139975242	T	A	139975242	3	1	62	1	0	0	0	0	1	0	0	0	16887	1580	55	5	1306	5	UAP1L1	9	139975242	Missense_Mutation	SNP	T	TCGA-EJ-5527-01A-01D-1576-08	3661517	139975242	1238189	37	3207											
GRIK4	2900	broad.mit.edu	37	chr11	120833172	120833172	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttcttttcccagaattcccGctaccagacctaccaacgca	10	10	5	16	2	1	2	0	0	1	2	3	2	3	2	5	0	3	3	5	0	4	6			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr11:120833172G>A	ENST00000527524.2	+	18	2335	c.2048G>A	c.(2047-2049)cGc>cAc	p.R683H	GRIK4_ENST00000438375.2_Missense_Mutation_p.R683H			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	683					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.R683H(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	CAGAATTCCCGCTACCAGACC	0.483													5	42					0	0	0.000602214	0	0	A	120833172	G	A	120833172	3	1	62	1	0	0	0	0	1	0	0	0	6817	1087	38	1	2110	1	GRIK4	11	120833172	Missense_Mutation	SNP	G	TCGA-EJ-5527-01A-01D-1576-08		120833172	14173344	38	3208											
GALNT8	26290	broad.mit.edu	37	chr12	4874640	4874640	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgacagaccctggcaaggcGgagaagcccaccttagaacc	12	4	11	14	1	0	4	0	1	0	3	0	5	0	4	4	3	2	1	4	3	4	1			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr12:4874640G>A	ENST00000252318.2	+	10	2026	c.1689G>A	c.(1687-1689)gcG>gcA	p.A563A		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	563	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.A563A(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						CTGGCAAGGCGGAGAAGCCCA	0.463													5	98					0	0	0.000602214	0	0	A	4874640	G	A	4874640	2	1	62	1	0	0	0	0	0	0	0	1	6259	1103	39	1		1	GALNT8	12	4874640	Silent	SNP	G	TCGA-EJ-5527-01A-01D-1576-08		4874640	128977255	39	3209											
MYL6	4637	broad.mit.edu	37	chr12	56554423	56554423	+	Missense_Mutation	SNP	T	T	A																															cctgcagcgtttgtgaggcaTatcctgtcggggtgacgggc																										TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr12:56554423T>A	ENST00000550697.1	+	6	682	c.441T>A	c.(439-441)caT>caA	p.H147Q	MYL6_ENST00000348108.4_Missense_Mutation_p.H148Q|MYL6_ENST00000549566.1_Intron|MYL6_ENST00000293422.5_Intron|MYL6_ENST00000536128.1_3'UTR|MYL6_ENST00000551589.1_3'UTR|MYL6_ENST00000548580.1_Intron|MYL6_ENST00000549017.1_Intron|MYL6_ENST00000548400.1_Missense_Mutation_p.H111Q|MYL6_ENST00000547649.1_Intron|MYL6_ENST00000548293.1_Missense_Mutation_p.H147Q|MYL6_ENST00000547408.1_Intron	NM_021019.4	NP_066299.2	P60660	MYL6_HUMAN	myosin, light chain 6, alkali, smooth muscle and non-muscle	147	EF-hand 3.				axon guidance|muscle filament sliding|skeletal muscle tissue development	cytosol|unconventional myosin complex	actin-dependent ATPase activity|calcium ion binding|motor activity|structural constituent of muscle	p.H147Q(1)		large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			TTGTGAGGCATATCCTGTCGG	0.547													14	351					0	0	0.00327116	0	0	A	56554423	T	A	56554423	3	1	62	1	0	0	0	0	1	0	0	0	10099	1403	49	5	463	5	MYL6	12	56554423	Missense_Mutation	SNP	T	TCGA-EJ-5527-01A-01D-1576-08	51679783	56554423	77297472	40	3210	16	2									
MYL6	4637	broad.mit.edu	37	chr12	56554425	56554425	+	Missense_Mutation	SNP	T	T	G																															tgcagcgtttgtgaggcataTcctgtcggggtgacgggccc																										TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr12:56554425T>G	ENST00000550697.1	+	6	684	c.443T>G	c.(442-444)aTc>aGc	p.I148S	MYL6_ENST00000348108.4_Missense_Mutation_p.I149S|MYL6_ENST00000549566.1_Intron|MYL6_ENST00000293422.5_Intron|MYL6_ENST00000536128.1_3'UTR|MYL6_ENST00000551589.1_3'UTR|MYL6_ENST00000548580.1_Intron|MYL6_ENST00000549017.1_Intron|MYL6_ENST00000548400.1_Missense_Mutation_p.I112S|MYL6_ENST00000547649.1_Intron|MYL6_ENST00000548293.1_Missense_Mutation_p.I148S|MYL6_ENST00000547408.1_Intron	NM_021019.4	NP_066299.2	P60660	MYL6_HUMAN	myosin, light chain 6, alkali, smooth muscle and non-muscle	148	EF-hand 3.				axon guidance|muscle filament sliding|skeletal muscle tissue development	cytosol|unconventional myosin complex	actin-dependent ATPase activity|calcium ion binding|motor activity|structural constituent of muscle	p.I148S(1)		large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			GTGAGGCATATCCTGTCGGGG	0.547													14	342					0	0	0.00283554	0	0	G	56554425	T	G	56554425	3	3	62	1	0	0	0	0	1	0	0	0	10099	1435	50	5	465	5	MYL6	12	56554425	Missense_Mutation	SNP	T	TCGA-EJ-5527-01A-01D-1576-08	2	56554425	77297470	41	3211	16	2									
DPY19L2	283417	broad.mit.edu	37	chr12	63976243	63976243	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcggtgtcaaaaacatcttTagcctcataattaaaatggc	14	12	7	8	1	3	0	2	0	1	0	3	0	3	0	1	2	3	0	1	2	6	4			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr12:63976243T>C	ENST00000324472.4	-	18	1851	c.1668A>G	c.(1666-1668)ctA>ctG	p.L556L	DPY19L2_ENST00000413230.2_Silent_p.L3L	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	556					multicellular organismal development|spermatid development	integral to membrane		p.L556L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		AAAACATCTTTAGCCTCATAA	0.343													23	82					0	0	0.00465635	0	0	C	63976243	T	C	63976243	2	2	62	1	0	0	0	0	0	0	0	1	4767	1741	61	3		3	DPY19L2	12	63976243	Silent	SNP	T	TCGA-EJ-5527-01A-01D-1576-08	7421818	63976243	69875652	42	3212											
SLC6A15	55117	broad.mit.edu	37	chr12	85270374	85270374	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacatatggaaacagagaacTaaaatatatgatctgcaaag	20	8	7	6	0	1	2	0	1	1	1	1	4	1	3	0	1	3	1	0	1	8	4			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr12:85270374T>A	ENST00000266682.5	-	6	1310	c.769A>T	c.(769-771)Agt>Tgt	p.S257C	SLC6A15_ENST00000552192.1_Missense_Mutation_p.S150C|SLC6A15_ENST00000551388.1_5'UTR	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	257					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.S257C(1)		kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						AACAGAGAACTAAAATATATG	0.303													5	141					0	0	0.000602214	0	0	A	85270374	T	A	85270374	3	1	62	1	0	0	0	0	1	0	0	0	14733	1522	53	5	1451	5	SLC6A15	12	85270374	Missense_Mutation	SNP	T	TCGA-EJ-5527-01A-01D-1576-08	21294131	85270374	48581521	43	3213											
UBC	7316	broad.mit.edu	37	chr12	125397269	125397269	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	catcttccagctgttttccgGcaaagatcaacctctgctgg	8	12	8	13	1	3	1	1	0	2	1	5	1	5	1	3	2	3	4	3	2	2	3			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr12:125397269G>A	ENST00000536769.1	-	1	2625	c.1049C>T	c.(1048-1050)gCc>gTc	p.A350V	UBC_ENST00000538617.1_Intron|UBC_ENST00000546120.1_Missense_Mutation_p.A274V|UBC_ENST00000339647.5_Missense_Mutation_p.A350V			P0CG48	UBC_HUMAN	ubiquitin C	350	Ubiquitin-like 5.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CTGTTTTCCGGCAAAGATCAA	0.522													7	475					0	0	0.00198382	0	0	A	125397269	G	A	125397269	3	1	62	1	0	0	0	0	1	0	0	0	16903	1203	42	2	1012	2	UBC	12	125397269	Missense_Mutation	SNP	G	TCGA-EJ-5527-01A-01D-1576-08	40126895	125397269	8454626	44	3214											
MIPEP	4285	broad.mit.edu	37	chr13	24455845	24455845	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaacagcacatacttctctaCcatggtgccaatacttctac	12	11	5	13	0	2	0	0	0	2	0	3	1	2	0	2	1	7	1	2	1	6	6			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr13:24455845C>A	ENST00000382172.3	-	3	543	c.445G>T	c.(445-447)Gta>Tta	p.V149L	MIPEP_ENST00000469167.1_5'UTR	NM_005932.3	NP_005923.2	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase	149					protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity	p.V149L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		TACTTCTCTACCATGGTGCCA	0.502													11	115					0.000978159	0.00267707	0.000978159	1	0	A	24455845	C	A	24455845	3	1	62	1	0	0	0	0	1	0	0	0	9640	507	18	4	1764	4	MIPEP	13	24455845	Missense_Mutation	SNP	C	TCGA-EJ-5527-01A-01D-1576-08		24455845	90714033	45	3215											
SPG20	23111	broad.mit.edu	37	chr13	36886567	36886567	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tccatgcttcttgacatgtgGagctagttcttttccaacgc	7	15	8	11	1	2	1	0	1	2	0	4	2	4	2	2	1	3	3	2	1	2	6			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr13:36886567G>A	ENST00000451493.1	-	7	1748	c.1531C>T	c.(1531-1533)Cca>Tca	p.P511S	SPG20_ENST00000438666.2_Missense_Mutation_p.P511S|SPG20_ENST00000494062.2_Missense_Mutation_p.P511S|SPG20_ENST00000355182.4_Missense_Mutation_p.P511S	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	511					cell death	cytoplasm	ubiquitin protein ligase binding	p.P511S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		TTGACATGTGGAGCTAGTTCT	0.368													42	283					0	0	0.00195071	0	0	A	36886567	G	A	36886567	3	1	62	1	0	0	0	0	1	0	0	0	15098	1174	41	2	481	2	SPG20	13	36886567	Missense_Mutation	SNP	G	TCGA-EJ-5527-01A-01D-1576-08	12430722	36886567	78283311	46	3216											
PCDH17	27253	broad.mit.edu	37	chr13	58208844	58208844	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctccatcatcctcctagcgGccatgatcaccatcgccgtc	7	10	6	18	3	3	1	2	1	1	0	8	1	5	1	6	1	1	0	6	1	1	1			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr13:58208844G>A	ENST00000377918.3	+	1	2190	c.2164G>A	c.(2164-2166)Gcc>Acc	p.A722T		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	722					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CCTCCTAGCGGCCATGATCAC	0.617													4	84					0	0	0.00024832	0	0	A	58208844	G	A	58208844	3	1	62	1	0	0	0	0	1	0	0	0	11559	1203	42	2	2166	2	PCDH17	13	58208844	Missense_Mutation	SNP	G	TCGA-EJ-5527-01A-01D-1576-08	21322277	58208844	56961034	47	3217											
TRIM9	114088	broad.mit.edu	37	chr14	51446111	51446111	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcagggtgcttacctgcacGttcctgttcaggctgaccgc	5	10	13	13	2	1	1	1	1	0	0	2	1	2	1	3	3	3	6	3	3	1	3			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr14:51446111G>A	ENST00000298355.3	-	9	3185	c.2064C>T	c.(2062-2064)aaC>aaT	p.N688N	TRIM9_ENST00000338969.5_Silent_p.N769N	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	688	B30.2/SPRY.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding	p.N688N(2)|p.N769N(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					TTACCTGCACGTTCCTGTTCA	0.512													65	203					0	0	0.00361006	0	0	A	51446111	G	A	51446111	2	1	62	1	0	0	0	0	0	0	0	1	16610	1136	40	1		1	TRIM9	14	51446111	Silent	SNP	G	TCGA-EJ-5527-01A-01D-1576-08		51446111	55903429	48	3218											
MAP3K9	4293	broad.mit.edu	37	chr14	71215544	71215544	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgttttttttgttttgtttAccttttctttggccctgagt	2	26	7	6	0	1	1	0	1	1	0	1	1	1	1	2	1	1	3	2	1	1	12			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr14:71215544A>T	ENST00000554752.2	-	5	1326		c.e5+1		MAP3K9_ENST00000555993.2_Splice_Site|MAP3K9_ENST00000381250.4_Splice_Site|MAP3K9_ENST00000553414.1_Splice_Site|MAP3K9_ENST00000554146.1_Splice_Site			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9						activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		tgttttgtttaccttttcttt	0.438													5	184					0	0	0.000602214	0	0	T	71215544	A	T	71215544	5	4	62	1	0	0	0	0	0	0	1	0	9307	405	14	5	2064	5	MAP3K9	14	71215544	Splice_Site	SNP	A	TCGA-EJ-5527-01A-01D-1576-08	19769433	71215544	36133996	49	3219											
CDC42BPB	9578	broad.mit.edu	37	chr14	103442220	103442220	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagccggcgctgccctcacCttgcagcttcctgctcagct	4	9	11	17	2	2	0	2	0	0	0	3	1	3	1	4	2	6	5	4	2	0	2			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr14:103442220C>G	ENST00000361246.2	-	10	1675	c.1387_splice	c.e10+1	p.E463_splice		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	463					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.E463Q(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CTGCCCTCACCTTGCAGCTTC	0.662													13	154					0	0	0.00400662	0	0	G	103442220	C	G	103442220	5	3	62	1	0	0	0	0	0	0	1	0	3095	695	24	4	3860	4	CDC42BPB	14	103442220	Splice_Site	SNP	C	TCGA-EJ-5527-01A-01D-1576-08	32226676	103442220	3907320	50	3220											
ZNF778	197320	broad.mit.edu	37	chr16	89294346	89294346	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agggtttatctactgaatgaGcatgtgaaaactcacacaga	15	10	9	7	0	2	4	1	3	1	1	2	4	2	4	0	1	3	2	0	1	5	3			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr16:89294346G>T	ENST00000433976.2	+	6	1898	c.1566G>T	c.(1564-1566)gaG>gaT	p.E522D	RP11-46C24.6_ENST00000563182.1_RNA|ZNF778_ENST00000306502.6_Missense_Mutation_p.E480D	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	522					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E522D(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		TACTGAATGAGCATGTGAAAA	0.458													7	108					0.00198382	0.00529018	0.00198382	1	0	T	89294346	G	T	89294346	3	4	62	1	0	0	0	0	1	0	0	0	18200	962	34	4	1584	4	ZNF778	16	89294346	Missense_Mutation	SNP	G	TCGA-EJ-5527-01A-01D-1576-08		89294346	1060407	51	3221											
ZNF276	92822	broad.mit.edu	37	chr16	89789105	89789105	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgcctgcttggtgtggcTgtccgccaggaccccacctt	4	9	12	16	2	0	0	0	0	0	0	1	1	1	1	6	3	2	2	6	3	0	2			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr16:89789105T>A	ENST00000289816.5	+	2	459	c.147T>A	c.(145-147)gcT>gcA	p.A49A	ZNF276_ENST00000443381.2_Silent_p.A124A|ZNF276_ENST00000446326.2_5'UTR|ZNF276_ENST00000568064.1_Silent_p.A49A	NM_152287.3	NP_689500.2	Q8N554	ZN276_HUMAN	zinc finger protein 276	124					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		TTGGTGTGGCTGTCCGCCAGG	0.637													4	106					0	0	0.00024832	0	0	A	89789105	T	A	89789105	2	1	62	1	0	0	0	0	0	0	0	1	17869	1567	55	5		5	ZNF276	16	89789105	Silent	SNP	T	TCGA-EJ-5527-01A-01D-1576-08	494759	89789105	565648	52	3222											
WDR81	124997	broad.mit.edu	37	chr17	1633695	1633695	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacagcctgcaagatggtccGctggctgtctgccaagctcg	7	9	12	13	2	1	1	0	0	1	1	3	1	2	1	3	2	5	4	3	2	3	1			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr17:1633695G>T	ENST00000409644.1	+	2	3689	c.3689G>T	c.(3688-3690)cGc>cTc	p.R1230L	RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000437219.2_Missense_Mutation_p.R27L|WDR81_ENST00000419248.1_Missense_Mutation_p.R3L|WDR81_ENST00000309182.5_Missense_Mutation_p.R179L|WDR81_ENST00000446363.1_Intron	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	3								p.R179L(2)|p.R27L(2)|p.R1230L(1)		cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AAGATGGTCCGCTGGCTGTCT	0.657													3	39					6.4e-05	0.000177493	6.4e-05	1	0	T	1633695	G	T	1633695	3	4	62	1	0	0	0	0	1	0	0	0	17390	1087	38	4	3757	4	WDR81	17	1633695	Missense_Mutation	SNP	G	TCGA-EJ-5527-01A-01D-1576-08		1633695	79561515	53	3223											
ALDH3A2	224	broad.mit.edu	37	chr17	19559759	19559759	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgaccacattttctatacGggaaacactgcggttggcaa	11	12	9	9	2	1	1	0	1	1	0	1	2	1	2	1	3	3	2	1	3	4	6			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr17:19559759G>A	ENST00000176643.6	+	4	998	c.552G>A	c.(550-552)acG>acA	p.T184T	ALDH3A2_ENST00000581518.1_Silent_p.T184T|ALDH3A2_ENST00000395575.2_Silent_p.T184T|ALDH3A2_ENST00000579855.1_Silent_p.T184T|ALDH3A2_ENST00000339618.4_Silent_p.T184T			P51648	AL3A2_HUMAN	aldehyde dehydrogenase 3 family, member A2	184			T -> M (in SLS; severe loss of activity).|T -> R (in SLS; severe loss of activity).		cellular aldehyde metabolic process|central nervous system development|epidermis development|lipid metabolic process|peripheral nervous system development	endoplasmic reticulum membrane|integral to membrane	3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity	p.T184T(1)		endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1)	13	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)				NADH(DB00157)	TTTTCTATACGGGAAACACTG	0.438													32	167					0	0	0.0024448	0	0	A	19559759	G	A	19559759	2	1	62	1	0	0	0	0	0	0	0	1	495	1103	39	1		1	ALDH3A2	17	19559759	Silent	SNP	G	TCGA-EJ-5527-01A-01D-1576-08	17926064	19559759	61635451	54	3224											
KRT14	3861	broad.mit.edu	37	chr17	39741238	39741238	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaactcacttggtgcggaaGtcatccgcggccagacgggc	9	6	13	13	4	2	1	2	0	0	1	3	2	3	2	2	4	2	0	2	4	2	1			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr17:39741238G>C	ENST00000167586.6	-	2	683	c.597C>G	c.(595-597)gaC>gaG	p.D199E		NM_000526.4	NP_000517.2	P02533	K1C14_HUMAN	keratin 14	199	Coil 1B.|Rod.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	p.D199E(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				TGGTGCGGAAGTCATCCGCGG	0.502													4	96					0	0	0.000602214	0	0	C	39741238	G	C	39741238	3	2	62	1	0	0	0	0	1	0	0	0	8494	1020	36	4	849	4	KRT14	17	39741238	Missense_Mutation	SNP	G	TCGA-EJ-5527-01A-01D-1576-08	20181479	39741238	41453972	55	3225											
ROCK1	6093	broad.mit.edu	37	chr18	18586746	18586746	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttccaactgatcctttaatgTagaaactagaaaatgaaaga	18	11	6	6	0	0	5	0	2	0	3	2	5	2	5	2	0	2	1	2	0	8	5			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr18:18586746T>A	ENST00000399799.1	-	15	2492	c.1552A>T	c.(1552-1554)Aca>Tca	p.T518S		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	518	Interaction with FHOD1.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	p.T518S(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TCCTTTAATGTAGAAACTAGA	0.308													6	280					0	0	0.00116845	0	0	A	18586746	T	A	18586746	3	1	62	1	0	0	0	0	1	0	0	0	13569	1638	57	5	2588	5	ROCK1	18	18586746	Missense_Mutation	SNP	T	TCGA-EJ-5527-01A-01D-1576-08		18586746	59490502	56	3226											
ZNF516	9658	broad.mit.edu	37	chr18	74091047	74091047	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccagagtcctcagctccTgggctgccttcgaggggggc	4	8	16	13	1	1	1	1	0	0	1	4	2	3	1	4	5	2	2	4	5	0	1			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr18:74091047T>A	ENST00000443185.2	-	4	3340	c.3023A>T	c.(3022-3024)cAg>cTg	p.Q1008L	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	1008					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q1008L(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CCTCAGCTCCTGGGCTGCCTT	0.706													25	29					0	0	0.00465635	0	0	A	74091047	T	A	74091047	3	1	62	1	0	0	0	0	1	0	0	0	18017	1580	55	5	485	5	ZNF516	18	74091047	Missense_Mutation	SNP	T	TCGA-EJ-5527-01A-01D-1576-08	55504301	74091047	3986201	57	3227											
LRFN3	79414	broad.mit.edu	37	chr19	36431059	36431059	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccgcctctgccctggtgctGgcctttggcgggaaccccct	2	9	12	18	2	1	0	0	0	1	0	1	1	1	1	6	4	3	1	6	4	1	1			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr19:36431059G>A	ENST00000588831.1	+	3	1786	c.732G>A	c.(730-732)ctG>ctA	p.L244L	LRFN3_ENST00000246529.3_Silent_p.L244L			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	244					cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CCCTGGTGCTGGCCTTTGGCG	0.721													3	42					0	0	0.000602214	0	0	A	36431059	G	A	36431059	2	1	62	1	0	0	0	0	0	0	0	1	8984	1335	47	2		2	LRFN3	19	36431059	Silent	SNP	G	TCGA-EJ-5527-01A-01D-1576-08		36431059	22697924	58	3228											
TP53TG5	27296	broad.mit.edu	37	chr20	44004137	44004137	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagttccttctcggagcaccCgatctcctggaactcttcat	7	12	8	14	2	4	0	1	0	3	0	7	4	5	2	3	2	2	2	3	2	1	3			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr20:44004137C>T	ENST00000372726.3	-	4	466	c.310G>A	c.(310-312)Ggg>Agg	p.G104R	TP53TG5_ENST00000537995.1_Missense_Mutation_p.G88R|SYS1-DBNDD2_ENST00000452133.1_Intron|TP53TG5_ENST00000494455.1_5'UTR|SYS1_ENST00000426004.1_3'UTR|SYS1-DBNDD2_ENST00000475242.1_Intron	NM_014477.2	NP_055292.1	Q9Y2B4	T53G5_HUMAN	TP53 target 5	104					intracellular signal transduction|negative regulation of cell growth	cytoplasm|nucleus		p.G104R(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	12						TCGGAGCACCCGATCTCCTGG	0.502													43	326					0	0	0.00195071	0	0	T	44004137	C	T	44004137	3	4	62	1	0	0	0	0	1	0	0	0	16452	652	23	1	570	1	TP53TG5	20	44004137	Missense_Mutation	SNP	C	TCGA-EJ-5527-01A-01D-1576-08		44004137	19021383	59	3229											
MX1	4599	broad.mit.edu	37	chr21	42807818	42807818	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaaggtgcgcccctgcatcGacctcattgactccctgcgg	7	8	11	15	3	1	2	1	1	0	1	3	3	2	2	4	2	3	1	4	2	1	1			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr21:42807818G>A	ENST00000398600.2	+	8	1185	c.160G>A	c.(160-162)Gac>Aac	p.D54N	MX1_ENST00000288383.6_Missense_Mutation_p.D54N|MX1_ENST00000398598.3_Missense_Mutation_p.D54N|MX1_ENST00000455164.2_Missense_Mutation_p.D54N	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)	54					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding	p.D54N(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				CCCCTGCATCGACCTCATTGA	0.582													7	150					0	0	0.00448238	0	0	A	42807818	G	A	42807818	3	1	62	1	0	0	0	0	1	0	0	0	10045	1058	37	1	166	1	MX1	21	42807818	Missense_Mutation	SNP	G	TCGA-EJ-5527-01A-01D-1576-08		42807818	5322077	60	3230											
DEPDC5	9681	broad.mit.edu	37	chr22	32229973	32229973	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctccagacccaagtaagaGggggcagctgactggggaaa	12	5	14	10	0	1	3	0	1	1	2	2	4	1	4	2	4	1	3	2	4	3	1			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr22:32229973G>A	ENST00000536766.1	+	22	2030	c.1859G>A	c.(1858-1860)aGg>aAg	p.R620K	DEPDC5_ENST00000400249.2_Intron|DEPDC5_ENST00000400248.1_Intron|DEPDC5_ENST00000382112.3_Intron|DEPDC5_ENST00000400246.1_Intron|DEPDC5_ENST00000535622.1_Intron|DEPDC5_ENST00000266091.3_Intron|DEPDC5_ENST00000382105.2_Intron|DEPDC5_ENST00000382111.2_Intron			O75140	DEPD5_HUMAN	DEP domain containing 5	0					intracellular signal transduction			p.?(1)		breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CCAAGTAAGAGGGGGCAGCTG	0.502													23	452					0	0	0.00188189	0	0	A	32229973	G	A	32229973	3	1	62	1	0	0	0	0	1	0	0	0	4470	1015	35	2		2	DEPDC5	22	32229973	Missense_Mutation	SNP	G	TCGA-EJ-5527-01A-01D-1576-08		32229973	19074593	61	3231											
MFNG	4242	broad.mit.edu	37	chr22	37875495	37875495	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagaagctgcagcagcgccCttgggttcacatagttgtca	9	10	11	11	1	3	1	3	0	0	1	3	1	3	1	1	1	4	5	1	1	2	4			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr22:37875495C>A	ENST00000356998.3	-	4	672	c.449G>T	c.(448-450)aGg>aTg	p.R150M	MFNG_ENST00000416983.3_Missense_Mutation_p.R136M	NM_002405.3	NP_002396.2	O00587	MFNG_HUMAN	MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	150					pattern specification process	extracellular space|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			large_intestine(2)|lung(2)|skin(1)	5	Melanoma(58;0.0574)					CAGCAGCGCCCTTGGGTTCAC	0.617													4	80					1.23904e-05	3.53042e-05	0.000602214	1	0	A	37875495	C	A	37875495	3	1	62	1	0	0	0	0	1	0	0	0	9575	681	24	4	536	4	MFNG	22	37875495	Missense_Mutation	SNP	C	TCGA-EJ-5527-01A-01D-1576-08	5645522	37875495	13429071	62	3232											
TCF20	6942	broad.mit.edu	37	chr22	42610895	42610895	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccagagtgctgtgcttgAaactggcccacatgaccctc	9	8	11	13	0	0	3	0	2	0	1	1	3	0	3	3	2	3	2	3	2	1	1			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chr22:42610895A>G	ENST00000359486.3	-	1	553	c.417T>C	c.(415-417)ttT>ttC	p.F139F	TCF20_ENST00000335626.4_Silent_p.F139F	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	139					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	p.F139F(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GCTGTGCTTGAAACTGGCCCA	0.577													56	162					0	0	0.00361006	0	0	G	42610895	A	G	42610895	2	3	62	1	0	0	0	0	0	0	0	1	15750	243	9	3		3	TCF20	22	42610895	Silent	SNP	A	TCGA-EJ-5527-01A-01D-1576-08	4735400	42610895	8693671	63	3233											
BCOR	54880	broad.mit.edu	37	chrX	39914706	39914706	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaaggtggggtcagcaccAtaagagagaagtagtcggac	13	5	15	8	1	1	2	1	0	0	2	2	4	1	3	2	4	1	2	2	4	4	2			TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chrX:39914706A>G	ENST00000342274.4	-	12	4916	c.4554T>C	c.(4552-4554)taT>taC	p.Y1518Y	BCOR_ENST00000397354.3_Silent_p.Y1518Y|BCOR_ENST00000378444.4_Silent_p.Y1552Y|BCOR_ENST00000378455.4_Silent_p.Y1500Y|BCOR_ENST00000378463.1_Silent_p.Y395Y	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1552					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	p.Y1518Y(2)		breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GGTCAGCACCATAAGAGAGAA	0.453			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						8	83					0	0	0.000673444	0	0	G	39914706	A	G	39914706	2	3	62	1	0	0	0	0	0	0	0	1	1384	224	8	3		3	BCOR	23	39914706	Silent	SNP	A	TCGA-EJ-5527-01A-01D-1576-08		39914706	115355854	64	3234											
SLITRK4	139065	broad.mit.edu	37	chrX	142717743	142717743	+	Frame_Shift_Del	DEL	T	T	-																															tcaaagtcagtgaagtctgaTacgtccacatccttgatgct																										TCGA-EJ-5527-01A-01D-1576-08	TCGA-EJ-5527-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	399a4aa1-42a8-47cc-85b8-eb319f9d6dea	af2ce051-08ef-4359-a67b-359a82b9e6a9	g.chrX:142717743delT	ENST00000381779.4	-	2	1407	c.1182delA	c.(1180-1182)gtfs	p.V394fs	SLITRK4_ENST00000338017.4_Frame_Shift_Del_p.V394fs|SLITRK4_ENST00000356928.1_Frame_Shift_Del_p.V394fs	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	394						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TGAAGTCTGATACGTCCACAT	0.393													110	164	---	---	---	---						-	142717743	T	-	142717743	7	5	62	1	0	1	0	1	0	0	0	0	14799	1393	49	0	1335	0	SLITRK4	23	142717743	Frame_Shift_Del	DEL	T	TCGA-EJ-5527-01A-01D-1576-08	102803037	142717743	12552817	65	3235											
CAMTA1	23261	broad.mit.edu	37	chr1	7700505	7700505	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acctgaacgtgccggccatcGaggactgcggcaagccttgc	8	6	13	14	4	0	1	0	1	0	0	1	3	0	2	4	3	5	1	4	3	2	1			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr1:7700505G>A	ENST00000303635.7	+	7	763	c.556G>A	c.(556-558)Gag>Aag	p.E186K	CAMTA1_ENST00000439411.2_Missense_Mutation_p.E186K	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	186					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	p.E186K(2)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GCCGGCCATCGAGGACTGCGG	0.612			T	WWTR1	epitheliod hemangioendothelioma								4	82					0	0	1	0	0	A	7700505	G	A	7700505	3	1	63	1	0	0	0	0	1	0	0	0	2631	1059	37	1	582	1	CAMTA1	1	7700505	Missense_Mutation	SNP	G	TCGA-EJ-5530-01A-01D-1576-08		7700505	241550116	1	3236											
GPR157	80045	broad.mit.edu	37	chr1	9171452	9171452	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acatggtccttggcctccagGtcgatccagcaccagcccac	8	7	9	17	1	0	0	0	0	0	0	4	1	3	0	6	3	2	1	6	3	0	1			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr1:9171452G>A	ENST00000377411.4	-	2	622	c.480C>T	c.(478-480)gaC>gaT	p.D160D	GPR157_ENST00000414642.2_Silent_p.D160D	NM_024980.4	NP_079256.4	Q5UAW9	GP157_HUMAN	G protein-coupled receptor 157	160						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.D160D(1)		lung(4)|prostate(1)	5	all_lung(157;0.185)	all_epithelial(116;5.02e-20)|all_lung(118;3.6e-06)|Lung NSC(185;7.93e-06)|Renal(390;0.000147)|Breast(348;0.000688)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.16e-07)|COAD - Colon adenocarcinoma(227;7.73e-05)|Kidney(185;0.000252)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.00178)|BRCA - Breast invasive adenocarcinoma(304;0.00186)|READ - Rectum adenocarcinoma(331;0.0642)		TGGCCTCCAGGTCGATCCAGC	0.617											OREG0013073	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	68					0	0	1	0	0	A	9171452	G	A	9171452	2	1	63	1	0	0	0	0	0	0	0	1	6702	1252	44	2		2	GPR157	1	9171452	Silent	SNP	G	TCGA-EJ-5530-01A-01D-1576-08	1470947	9171452	240079169	2	3237											
TCEB3	6924	broad.mit.edu	37	chr1	24080617	24080617	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaccccaggaagaagaagAagctggatttactgggcgca	13	7	12	9	1	1	3	1	0	0	3	1	5	1	5	2	3	2	2	2	3	5	3	rs144826294	byFrequency	TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr1:24080617A>C	ENST00000418390.2	+	6	1914	c.1643A>C	c.(1642-1644)gAa>gCa	p.E548A		NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	548	Activation domain (By similarity).				positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding	p.E522A(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		GAAGAAGAAGAAGCTGGATTT	0.478													5	189					0	0	1	0	0	C	24080617	A	C	24080617	3	2	63	1	0	0	0	0	1	0	0	0	15741	246	9	5	1665	5	TCEB3	1	24080617	Missense_Mutation	SNP	A	TCGA-EJ-5530-01A-01D-1576-08	14909165	24080617	225170004	3	3238											
AKR1A1	10327	broad.mit.edu	37	chr1	46034256	46034256	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gccctttgggctcctctgatCgtgcatggcgtgatcctgat	4	13	12	12	2	1	3	0	3	1	0	4	3	3	3	3	2	1	2	3	2	0	1			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr1:46034256C>G	ENST00000372070.3	+	7	1399	c.652C>G	c.(652-654)Cgt>Ggt	p.R218G	AKR1A1_ENST00000351829.4_Missense_Mutation_p.R218G	NM_001202413.1|NM_001202414.1|NM_006066.3	NP_001189342.1|NP_001189343.1|NP_006057.1	P14550	AK1A1_HUMAN	aldo-keto reductase family 1, member A1 (aldehyde reductase)	218					glucose metabolic process		alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding	p.R218G(1)		lung(3)|prostate(1)|urinary_tract(1)	5	Acute lymphoblastic leukemia(166;0.155)					CTCCTCTGATCGTGCATGGCG	0.542													10	118					0	0	1	0	0	G	46034256	C	G	46034256	3	3	63	1	0	0	0	0	1	0	0	0	462	884	31	4	670	4	AKR1A1	1	46034256	Missense_Mutation	SNP	C	TCGA-EJ-5530-01A-01D-1576-08	21953639	46034256	203216365	4	3239											
KCNA3	3738	broad.mit.edu	37	chr1	111216034	111216034	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgatggtcaagacaccggcGatggcacagagagatcccac	12	4	13	12	3	1	3	1	0	0	3	2	6	2	3	2	3	0	1	2	3	1	0			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr1:111216034G>A	ENST00000369769.2	-	1	1621	c.1398C>T	c.(1396-1398)atC>atT	p.I466I		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	466						voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.I466I(1)		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)		AGACACCGGCGATGGCACAGA	0.527													3	96					0	0	1	0	0	A	111216034	G	A	111216034	2	1	63	1	0	0	0	0	0	0	0	1	8048	1048	37	1		1	KCNA3	1	111216034	Silent	SNP	G	TCGA-EJ-5530-01A-01D-1576-08	65181778	111216034	138034587	5	3240											
DCST2	127579	broad.mit.edu	37	chr1	155005742	155005743	+	Splice_Site	INS	-	-	G																															gtagtgtccggccctgccctINSgggggcgacagctttgttag																										TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr1:155005742_155005743insG	ENST00000368424.3	-	2	327		c.e2-2		DCST2_ENST00000295536.5_Splice_Site	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2							integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGCCCTGCCCTGGGGGCGACAG	0.569													25	46	---	---	---	---						G	155005743	-	G	155005742	8	5	63	1	0	1	1	0	0	0	1	0	4326	1594	55	0	2110	0	DCST2	1	155005742	Splice_Site	INS	-	TCGA-EJ-5530-01A-01D-1576-08	43789708	155005742	94244879	6	3241											
ETV3	2117	broad.mit.edu	37	chr1	157104014	157104014	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaggatcctcttgttgtaaTagtatctgtaaaaacaggaa	15	12	9	5	0	2	0	0	0	2	0	3	3	3	2	1	2	1	4	1	2	8	6			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr1:157104014T>C	ENST00000368192.4	-	4	354	c.290A>G	c.(289-291)tAt>tGt	p.Y97C	ETV3_ENST00000326786.4_Missense_Mutation_p.Y97C	NM_001145312.1	NP_001138784.1	P41162	ETV3_HUMAN	ets variant 3	97							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.Y97C(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	9	Hepatocellular(266;0.158)	Prostate(1639;0.174)				CTTGTTGTAATAGTATCTGTA	0.368													9	90					0	0	1	0	0	C	157104014	T	C	157104014	3	2	63	1	0	0	0	0	1	0	0	0	5307	1406	49	3	1288	3	ETV3	1	157104014	Missense_Mutation	SNP	T	TCGA-EJ-5530-01A-01D-1576-08	2098272	157104014	92146607	7	3242											
CACNA1E	777	broad.mit.edu	37	chr1	181727100	181727100	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagagggcgtgcatcgacttCgccatcagcgccaaacctct	9	7	10	15	4	2	1	1	0	1	1	4	2	2	1	3	1	3	1	3	1	1	1			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr1:181727100C>T	ENST00000526775.1	+	30	4455	c.4290C>T	c.(4288-4290)ttC>ttT	p.F1430F	CACNA1E_ENST00000360108.3_Silent_p.F1430F|CACNA1E_ENST00000367573.2_Silent_p.F1449F|CACNA1E_ENST00000367570.1_Silent_p.F1449F|CACNA1E_ENST00000367567.4_Silent_p.F1056F|CACNA1E_ENST00000358338.5_Silent_p.F1381F|CACNA1E_ENST00000357570.5_Silent_p.F1400F	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1449					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.F1449F(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GCATCGACTTCGCCATCAGCG	0.522													14	122					0	0	1	0	0	T	181727100	C	T	181727100	2	4	63	1	0	0	0	0	0	0	0	1	2560	883	31	1		1	CACNA1E	1	181727100	Silent	SNP	C	TCGA-EJ-5530-01A-01D-1576-08	24623086	181727100	67523521	8	3243											
WDR64	128025	broad.mit.edu	37	chr1	241946665	241946665	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	acaagtggtacttactgcctCcatcgatggctcagtaaggt	10	11	10	10	1	1	0	1	0	0	0	3	1	2	0	2	3	3	3	2	3	4	3			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr1:241946665C>G	ENST00000366552.2	+	22	2864	c.2657C>G	c.(2656-2658)tCc>tGc	p.S886C	WDR64_ENST00000437684.2_Missense_Mutation_p.S719C	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	886								p.S886C(1)|p.S439C(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			CTTACTGCCTCCATCGATGGC	0.393													4	82					0	0	1	0	0	G	241946665	C	G	241946665	3	3	63	1	0	0	0	0	1	0	0	0	17375	855	30	4	2743	4	WDR64	1	241946665	Missense_Mutation	SNP	C	TCGA-EJ-5530-01A-01D-1576-08	60219565	241946665	7303956	9	3244											
PUM2	23369	broad.mit.edu	37	chr2	20458017	20458017	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caattacctgctggtcagaaGaaatagattctaatgctttc	13	13	7	8	0	2	3	1	0	1	3	3	3	2	3	1	1	3	2	1	1	6	5			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr2:20458017G>T	ENST00000361078.2	-	15	2493	c.2471C>A	c.(2470-2472)tCt>tAt	p.S824Y	PUM2_ENST00000319801.5_Missense_Mutation_p.S745Y|PUM2_ENST00000338086.5_Missense_Mutation_p.S824Y|PUM2_ENST00000403432.1_Missense_Mutation_p.S824Y|PUM2_ENST00000536417.1_Missense_Mutation_p.S768Y			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	824	PUM-HD.				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding	p.S824Y(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGGTCAGAAGAAATAGATTC	0.328													20	57					5.03518e-11	5.55427e-11	1	1	0	T	20458017	G	T	20458017	3	4	63	1	0	0	0	0	1	0	0	0	12878	942	33	4	747	4	PUM2	2	20458017	Missense_Mutation	SNP	G	TCGA-EJ-5530-01A-01D-1576-08		20458017	222741356	10	3245											
CNTNAP5	129684	broad.mit.edu	37	chr2	125521376	125521376	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgcgttgctatggtgacCgtgagtacaaaatcgaaaga	12	10	11	8	3	0	3	0	2	0	1	1	4	0	3	2	1	3	3	2	1	5	4			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr2:125521376C>T	ENST00000431078.1	+	15	2723	c.2359_splice	c.e15+1	p.R787_splice		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	787	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.R787*(2)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CTATGGTGACCGTGAGTACAA	0.458													11	56					0	0	1	0	0	T	125521376	C	T	125521376	5	4	63	1	0	0	0	0	0	0	1	0	3673	666	23	1	2417	1	CNTNAP5	2	125521376	Splice_Site	SNP	C	TCGA-EJ-5530-01A-01D-1576-08	105063359	125521376	117677997	11	3246											
TTN	7273	broad.mit.edu	37	chr2	179640233	179640233	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagtagatccggtcagaccGttcaattttgacaccatttt	10	13	7	11	2	2	3	2	1	0	2	3	3	3	3	4	1	0	2	4	1	2	6	rs116158152	by1000genomes	TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr2:179640233G>A	ENST00000589042.1	-	28	6582	c.6358C>T	c.(6358-6360)Cgg>Tgg	p.R2120W	TTN_ENST00000360870.5_Missense_Mutation_p.R2120W|TTN_ENST00000460472.2_Missense_Mutation_p.R2074W|TTN_ENST00000359218.5_Missense_Mutation_p.R2074W|TTN_ENST00000342175.6_Missense_Mutation_p.R2074W|TTN_ENST00000342992.6_Missense_Mutation_p.R2120W|TTN_ENST00000591111.1_Missense_Mutation_p.R2120W	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1883	Ig-like 10.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R2074W(7)|p.R2120W(5)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGGTCAGACCGTTCAATTTTG	0.493													9	108					0	0	1	0	0	A	179640233	G	A	179640233	3	1	63	1	0	0	0	0	1	0	0	0	16797	1144	40	1	104970	1	TTN	2	179640233	Missense_Mutation	SNP	G	TCGA-EJ-5530-01A-01D-1576-08	54118857	179640233	63559140	12	3247											
NBEAL1	65065	broad.mit.edu	37	chr2	204039932	204039932	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcactatggtactcactattCaaattctgcgggggtcatgc	9	13	9	10	1	5	0	4	0	1	0	5	0	5	0	0	3	3	1	0	3	4	5			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr2:204039932C>G	ENST00000449802.1	+	41	6632	c.6299C>G	c.(6298-6300)tCa>tGa	p.S2100*		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2100	BEACH.						binding	p.S2100*(1)|p.S810*(1)		NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						ACTCACTATTCAAATTCTGCG	0.383													7	168					0	0	1	0	0	G	204039932	C	G	204039932	4	3	63	1	0	0	0	0	0	1	0	0	10236	838	29	4	6457	4	NBEAL1	2	204039932	Nonsense_Mutation	SNP	C	TCGA-EJ-5530-01A-01D-1576-08	24399699	204039932	39159441	13	3248											
COL6A3	1293	broad.mit.edu	37	chr2	238277502	238277502	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggggcaccccgtcttctatgCgactccccgcagacttaaca	8	8	9	16	3	2	1	0	0	2	1	3	2	3	1	4	2	2	2	4	2	2	3	rs115765346	by1000genomes	TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr2:238277502C>T	ENST00000295550.4	-	10	5056	c.4604G>A	c.(4603-4605)cGc>cAc	p.R1535H	COL6A3_ENST00000347401.3_Missense_Mutation_p.R1334H|COL6A3_ENST00000346358.4_Missense_Mutation_p.R1335H|COL6A3_ENST00000472056.1_Missense_Mutation_p.R928H|COL6A3_ENST00000409809.1_Missense_Mutation_p.R1329H|COL6A3_ENST00000353578.4_Missense_Mutation_p.R1329H	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1535	Nonhelical region.|VWFA 8.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.R1535H(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GTCTTCTATGCGACTCCCCGC	0.592													4	184					0	0	1	0	0	T	238277502	C	T	238277502	3	4	63	1	0	0	0	0	1	0	0	0	3724	768	27	1	5069	1	COL6A3	2	238277502	Missense_Mutation	SNP	C	TCGA-EJ-5530-01A-01D-1576-08	34237570	238277502	4921871	14	3249											
IL17RC	84818	broad.mit.edu	37	chr3	9969889	9969889	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actccgttaggacgaacatcTgccccttcagggagggtgag	9	8	13	11	2	2	1	1	1	1	0	3	4	3	3	3	3	2	1	3	3	2	2			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr3:9969889T>A	ENST00000295981.3	+	10	1293	c.1075T>A	c.(1075-1077)Tgc>Agc	p.C359S	IL17RC_ENST00000416074.2_Missense_Mutation_p.C144S|IL17RC_ENST00000413608.1_Missense_Mutation_p.C288S|IL17RC_ENST00000403601.3_Missense_Mutation_p.C288S|IL17RC_ENST00000383812.4_Missense_Mutation_p.C273S|IL17RC_ENST00000455057.1_Missense_Mutation_p.C273S|IL17RC_ENST00000498214.1_3'UTR	NM_153461.3	NP_703191.1	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	359						integral to membrane|plasma membrane	receptor activity	p.C359S(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GACGAACATCTGCCCCTTCAG	0.637													12	166					0	0	1	0	0	A	9969889	T	A	9969889	3	1	63	1	0	0	0	0	1	0	0	0	7685	1580	55	5	1113	5	IL17RC	3	9969889	Missense_Mutation	SNP	T	TCGA-EJ-5530-01A-01D-1576-08		9969889	188052541	15	3250											
MORC1	27136	broad.mit.edu	37	chr3	108818255	108818255	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagaaaaaaacacacaggTcatcgtttcttccttcttcg	12	12	6	11	2	3	1	1	1	2	1	6	2	4	1	1	1	1	1	1	1	3	4			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr3:108818255T>C	ENST00000232603.5	-	6	455	c.373A>G	c.(373-375)Acc>Gcc	p.T125A	MORC1_ENST00000483760.1_Missense_Mutation_p.T125A	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	125					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	p.T125A(1)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						AACACACAGGTCATCGTTTCT	0.343													12	115					0	0	1	0	0	C	108818255	T	C	108818255	3	2	63	1	0	0	0	0	1	0	0	0	9750	1667	58	3	2673	3	MORC1	3	108818255	Missense_Mutation	SNP	T	TCGA-EJ-5530-01A-01D-1576-08	98848366	108818255	89204175	16	3251											
GRID2	2895	broad.mit.edu	37	chr4	94436522	94436522	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatcaaccgaagcaatggatCggagaacaatgttctggagt	14	8	12	7	2	2	1	1	0	1	1	3	6	2	3	1	3	3	2	1	3	5	1			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr4:94436522C>T	ENST00000282020.4	+	13	2411	c.2153C>T	c.(2152-2154)tCg>tTg	p.S718L	GRID2_ENST00000510992.1_Missense_Mutation_p.S623L	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	718					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.S718L(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	AGCAATGGATCGGAGAACAAT	0.468													4	122					0	0	1	0	0	T	94436522	C	T	94436522	3	4	63	1	0	0	0	0	1	0	0	0	6813	893	31	1	2203	1	GRID2	4	94436522	Missense_Mutation	SNP	C	TCGA-EJ-5530-01A-01D-1576-08		94436522	96717754	17	3252											
DKK2	27123	broad.mit.edu	37	chr4	107845202	107845202	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcccttcgcacagtcgcaaCgctggaaaatttccagccca	10	7	9	15	3	0	0	0	0	0	0	3	1	1	1	3	2	2	3	3	2	3	2			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr4:107845202C>T	ENST00000285311.3	-	4	1394	c.689G>A	c.(688-690)cGt>cAt	p.R230H	DKK2_ENST00000513208.1_Missense_Mutation_p.R130H|DKK2_ENST00000510463.1_Missense_Mutation_p.R184H	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	230	DKK-type Cys-2.				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space		p.R230H(3)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		ACAGTCGCAACGCTGGAAAAT	0.488													26	270					0	0	1	0	0	T	107845202	C	T	107845202	3	4	63	1	0	0	0	0	1	0	0	0	4573	536	19	1	94	1	DKK2	4	107845202	Missense_Mutation	SNP	C	TCGA-EJ-5530-01A-01D-1576-08	13408680	107845202	83309074	18	3253											
CDH18	1016	broad.mit.edu	37	chr5	19503127	19503127	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtccttcagagtgaagtttGgatttacaggcaggcgttca	9	13	12	7	1	2	2	2	1	0	1	3	3	3	3	1	3	1	3	1	3	2	5			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr5:19503127G>A	ENST00000507958.1	-	13	2594	c.1604C>T	c.(1603-1605)cCa>cTa	p.P535L	CDH18_ENST00000506372.1_Missense_Mutation_p.P535L|CDH18_ENST00000274170.4_Missense_Mutation_p.P535L|CDH18_ENST00000511273.1_Missense_Mutation_p.P535L|CDH18_ENST00000382275.1_Missense_Mutation_p.P535L|CDH18_ENST00000502796.1_Missense_Mutation_p.P535L			Q13634	CAD18_HUMAN	cadherin 18, type 2	535	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P535L(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AGTGAAGTTTGGATTTACAGG	0.348													13	121					0	0	1	0	0	A	19503127	G	A	19503127	3	1	63	1	0	0	0	0	1	0	0	0	3125	1348	47	2	780	2	CDH18	5	19503127	Missense_Mutation	SNP	G	TCGA-EJ-5530-01A-01D-1576-08		19503127	161412133	19	3254											
HSPB3	8988	broad.mit.edu	37	chr5	53752034	53752034	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcctctgtcatgatggaattTtggtggtggaagtaaaggat	10	14	13	4	0	2	1	1	1	1	0	3	4	3	4	1	5	0	1	1	5	4	3			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr5:53752034T>C	ENST00000302005.1	+	1	590	c.415T>C	c.(415-417)Ttg>Ctg	p.L139L		NM_006308.2	NP_006299.1	Q12988	HSPB3_HUMAN	heat shock 27kDa protein 3	139					cell death|response to heat|response to unfolded protein	cytoplasm|nucleus		p.L139L(2)		breast(1)|large_intestine(4)|prostate(3)	8		Lung NSC(810;0.00104)				TGATGGAATTTTGGTGGTGGA	0.458													5	204					0	0	1	0	0	C	53752034	T	C	53752034	2	2	63	1	0	0	0	0	0	0	0	1	7464	1838	64	3		3	HSPB3	5	53752034	Silent	SNP	T	TCGA-EJ-5530-01A-01D-1576-08	34248907	53752034	127163226	20	3255											
ANKRD55	79722	broad.mit.edu	37	chr5	55472069	55472069	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagcagcttcactgtgtcCgcttgacgtccagaaaccgc	10	8	9	14	3	1	2	1	1	0	1	3	2	3	2	3	0	4	3	3	0	2	2			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr5:55472069C>T	ENST00000341048.4	-	4	373	c.222G>A	c.(220-222)gcG>gcA	p.A74A	ANKRD55_ENST00000504958.2_Silent_p.A74A|ANKRD55_ENST00000513241.2_Silent_p.A45A	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	73								p.A74A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				TCACTGTGTCCGCTTGACGTC	0.493													5	206					0	0	1	0	0	T	55472069	C	T	55472069	2	4	63	1	0	0	0	0	0	0	0	1	675	639	23	1		1	ANKRD55	5	55472069	Silent	SNP	C	TCGA-EJ-5530-01A-01D-1576-08	1720035	55472069	125443191	21	3256											
PCDHA11	0	broad.mit.edu	37	chr5	140250899	140250899	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcgcgccggggaagcccacGctggtgtgctcccgcgcggt	3	6	17	15	7	0	0	0	0	0	0	1	1	1	1	3	4	3	2	3	4	1	0			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr5:140250899G>A	ENST00000398640.2	+	1	2211	c.2211G>A	c.(2209-2211)acG>acA	p.T737T	PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018902.3	NP_061725.1												p.T737T(1)		breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAAGCCCACGCTGGTGTGCT	0.687													4	29					0	0	1	0	0	A	140250899	G	A	140250899	2	1	63	1	0	0	0	0	0	0	0	1	11568	1074	38	1		1	PCDHA11	5	140250899	Silent	SNP	G	TCGA-EJ-5530-01A-01D-1576-08	84778830	140250899	40664361	22	3257											
PCDHB12	0	broad.mit.edu	37	chr5	140588556	140588556	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgctgggaatgtctcaggCgggctctgaaactgggaact	8	11	14	8	1	2	1	1	1	2	0	3	3	2	3	0	4	3	2	0	4	3	1			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr5:140588556C>T	ENST00000239450.2	+	1	266	c.77C>T	c.(76-78)gCg>gTg	p.A26V	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		26					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.A26V(2)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATGTCTCAGGCGGGCTCTGAA	0.498													4	142					0	0	1	0	0	T	140588556	C	T	140588556	3	4	63	1	0	0	0	0	1	0	0	0	11584	768	27	1	79	1	PCDHB12	5	140588556	Missense_Mutation	SNP	C	TCGA-EJ-5530-01A-01D-1576-08	337657	140588556	40326704	23	3258											
PCDHGA10	0	broad.mit.edu	37	chr5	140794640	140794640	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgggcgaggtgcgcacggCgcgagccctgctggacagag	7	3	18	13	6	0	1	0	0	0	1	0	4	0	2	1	4	3	2	1	4	0	0			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr5:140794640C>T	ENST00000398610.2	+	1	1898	c.1898C>T	c.(1897-1899)gCg>gTg	p.A633V	PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1												p.A633V(1)		breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCGCACGGCGCGAGCCCTG	0.692													29	59					0	0	1	0	0	T	140794640	C	T	140794640	3	4	63	1	0	0	0	0	1	0	0	0	11598	768	27	1	1900	1	PCDHGA10	5	140794640	Missense_Mutation	SNP	C	TCGA-EJ-5530-01A-01D-1576-08	206084	140794640	40120620	24	3259											
TNXB	7148	broad.mit.edu	37	chr6	32021196	32021196	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgacagagatggggcccacGcgctggccaccgtggaagcc	9	4	15	13	3	0	2	0	1	0	1	0	4	0	3	4	4	1	1	4	4	1	0			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr6:32021196G>A	ENST00000375244.3	-	25	8961	c.8760C>T	c.(8758-8760)cgC>cgT	p.R2920R	TNXB_ENST00000375247.2_Silent_p.R2918R			P22105	TENX_HUMAN	tenascin XB	2967	Fibronectin type-III 21.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	p.R2996R(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGGGGCCCACGCGCTGGCCAC	0.632													5	15					0	0	1	0	0	A	32021196	G	A	32021196	2	1	63	1	0	0	0	0	0	0	0	1	16406	1074	38	1		1	TNXB	6	32021196	Silent	SNP	G	TCGA-EJ-5530-01A-01D-1576-08		32021196	139093871	25	3260											
MDN1	23195	broad.mit.edu	37	chr6	90382073	90382073	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgtcctgattgcagtctcTcaaagcctgctgcctcattc	7	13	8	13	0	3	1	2	1	1	0	6	2	4	1	3	0	4	2	3	0	1	2			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr6:90382073T>C	ENST00000369393.3	-	82	13755	c.13640A>G	c.(13639-13641)gAg>gGg	p.E4547G	MDN1_ENST00000428876.1_Missense_Mutation_p.E4547G|MDN1_ENST00000468568.1_5'UTR			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4547					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	p.E4547G(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTGCAGTCTCTCAAAGCCTGC	0.398													3	139					0	0	1	0	0	C	90382073	T	C	90382073	3	2	63	1	0	0	0	0	1	0	0	0	9465	1551	54	3	3234	3	MDN1	6	90382073	Missense_Mutation	SNP	T	TCGA-EJ-5530-01A-01D-1576-08	58360877	90382073	80732994	26	3261											
KLHL7	55975	broad.mit.edu	37	chr7	23164685	23164685	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaatttccgtgaatagcaaCaatgttcagtctttgctgga	12	13	9	7	1	2	2	1	1	1	1	3	3	3	3	1	1	3	3	1	1	5	4			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr7:23164685C>G	ENST00000322231.7	+	5	760	c.270C>G	c.(268-270)aaC>aaG	p.N90K	KLHL7_ENST00000322275.5_Missense_Mutation_p.N112K|KLHL7_ENST00000409689.1_Missense_Mutation_p.N64K|KLHL7_ENST00000339077.4_Missense_Mutation_p.N112K|KLHL7_ENST00000545443.1_Missense_Mutation_p.N90K|KLHL7_ENST00000545771.1_Missense_Mutation_p.N90K|KLHL7_ENST00000479288.1_Intron|KLHL7_ENST00000410047.1_Missense_Mutation_p.N90K|KLHL7_ENST00000539124.1_Missense_Mutation_p.N36K|KLHL7_ENST00000542558.1_Intron			Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	112	BTB.					Golgi apparatus|nucleolus|plasma membrane		p.N90K(1)|p.N112K(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGAATAGCAACAATGTTCAGT	0.328													8	97					0	0	1	0	0	G	23164685	C	G	23164685	3	3	63	1	0	0	0	0	1	0	0	0	8437	477	17	4	350	4	KLHL7	7	23164685	Missense_Mutation	SNP	C	TCGA-EJ-5530-01A-01D-1576-08		23164685	135973978	27	3262											
KIAA0895	23366	broad.mit.edu	37	chr7	36423479	36423479	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaataacctgaggtagagAacttgagtttagctcttctt	12	13	8	8	0	2	3	0	2	2	1	2	4	2	3	2	1	3	3	2	1	5	7			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr7:36423479A>G	ENST00000297063.6	-	2	217	c.167T>C	c.(166-168)tTc>tCc	p.F56S		NM_001100425.1	NP_001093895.1	Q8NCT3	K0895_HUMAN	KIAA0895	56								p.F56S(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						TGAGGTAGAGAACTTGAGTTT	0.358													6	78					0	0	1	0	0	G	36423479	A	G	36423479	3	3	63	1	0	0	0	0	1	0	0	0	8239	246	9	3	1448	3	KIAA0895	7	36423479	Missense_Mutation	SNP	A	TCGA-EJ-5530-01A-01D-1576-08	13258794	36423479	122715184	28	3263											
C7orf63	79846	broad.mit.edu	37	chr7	89912266	89912266	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggccgaggcaacaagtttgCccagatgcgttacagtttaa	11	10	11	9	2	0	1	0	0	0	1	0	2	0	1	2	2	4	4	2	2	4	4			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr7:89912266C>T	ENST00000389297.4	+	13	1684	c.1433C>T	c.(1432-1434)gCc>gTc	p.A478V	C7orf63_ENST00000497910.1_Missense_Mutation_p.A460V|C7orf63_ENST00000316089.8_Missense_Mutation_p.A478V	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN	chromosome 7 open reading frame 63	478							binding	p.A478V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						AACAAGTTTGCCCAGATGCGT	0.398													3	94					0	0	1	0	0	T	89912266	C	T	89912266	3	4	63	1	0	0	0	0	1	0	0	0	2425	739	26	2	1483	2	C7orf63	7	89912266	Missense_Mutation	SNP	C	TCGA-EJ-5530-01A-01D-1576-08	53488787	89912266	69226397	29	3264											
NKX3-1	4824	broad.mit.edu	37	chr8	23538928	23538928	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagcgtctgttctggaaccAtatcttcacttgggtctccg	7	14	9	11	2	5	0	1	0	4	0	6	1	5	1	2	2	2	1	2	2	3	5			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr8:23538928A>G	ENST00000380871.4	-	2	548	c.511T>C	c.(511-513)Tgg>Cgg	p.W171R	NKX3-1_ENST00000523261.1_Missense_Mutation_p.W96R	NM_006167.3	NP_006158.2	Q99801	NKX31_HUMAN	NK3 homeobox 1	171					negative regulation of estrogen receptor binding|negative regulation of transcription, DNA-dependent|positive regulation of cell division|positive regulation of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter	nucleus	estrogen receptor activity|estrogen receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region sequence-specific DNA binding	p.W171R(1)		large_intestine(3)|lung(4)|prostate(5)|skin(2)	14		Prostate(55;0.114)		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)		TTCTGGAACCATATCTTCACT	0.562													15	248					0	0	1	0	0	G	23538928	A	G	23538928	3	3	63	1	0	0	0	0	1	0	0	0	10502	217	8	3	197	3	NKX3-1	8	23538928	Missense_Mutation	SNP	A	TCGA-EJ-5530-01A-01D-1576-08		23538928	122825094	30	3265											
INTS9	55756	broad.mit.edu	37	chr8	28633369	28633369	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atggcggggggctggcagtcGatcatgaggtccatcctgtg	6	9	17	9	2	1	1	1	1	0	0	4	2	3	1	2	6	0	2	2	6	0	0			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr8:28633369G>A	ENST00000416984.2	-	13	1766	c.1407C>T	c.(1405-1407)atC>atT	p.I469I	INTS9_ENST00000521022.1_Silent_p.I490I|INTS9_ENST00000397363.4_Silent_p.I384I|INTS9_ENST00000521777.1_Silent_p.I466I	NM_001145159.2	NP_001138631.1	Q9NV88	INT9_HUMAN	integrator complex subunit 9	490					snRNA processing	integrator complex	protein binding	p.I490I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		GCTGGCAGTCGATCATGAGGT	0.612													4	53					0	0	1	0	0	A	28633369	G	A	28633369	2	1	63	1	0	0	0	0	0	0	0	1	7829	1048	37	1		1	INTS9	8	28633369	Silent	SNP	G	TCGA-EJ-5530-01A-01D-1576-08	5094441	28633369	117730653	31	3266											
DCAF4L2	138009	broad.mit.edu	37	chr8	88885073	88885073	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgagcagccctggtgctcctCggaagcccccgaggcgagaa	8	5	14	14	3	0	2	0	1	0	1	2	5	1	3	4	3	4	2	4	3	2	0			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr8:88885073C>T	ENST00000319675.3	-	1	1223	c.1127G>A	c.(1126-1128)cGa>cAa	p.R376Q		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	376								p.R376Q(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TGGTGCTCCTCGGAAGCCCCC	0.582													44	57					0	0	1	0	0	T	88885073	C	T	88885073	3	4	63	1	0	0	0	0	1	0	0	0	4296	884	31	1	64	1	DCAF4L2	8	88885073	Missense_Mutation	SNP	C	TCGA-EJ-5530-01A-01D-1576-08	60251704	88885073	57478949	32	3267											
RAD21	5885	broad.mit.edu	37	chr8	117878924	117878924	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggccgctagccaaattttGgccagaggccctcttttact	7	12	10	12	1	1	1	0	0	1	1	1	1	1	1	4	3	2	1	4	3	3	5			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr8:117878924G>A	ENST00000297338.2	-	2	332	c.45C>T	c.(43-45)gcC>gcT	p.A15A	RAD21_ENST00000523547.1_5'UTR	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	15					apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding	p.A15A(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					GCCAAATTTTGGCCAGAGGCC	0.433													3	85					0	0	1	0	0	A	117878924	G	A	117878924	2	1	63	1	0	0	0	0	0	0	0	1	13033	1335	47	2		2	RAD21	8	117878924	Silent	SNP	G	TCGA-EJ-5530-01A-01D-1576-08	28993851	117878924	28485098	33	3268											
RPL8	6132	broad.mit.edu	37	chr8	146017507	146017507	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctctgtccacggatcacaCggcccatggcgacgggtcct	6	8	11	16	4	2	0	1	0	1	0	5	2	5	1	4	4	0	0	4	4	0	0			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr8:146017507C>T	ENST00000262584.3	-	2	240	c.8G>A	c.(7-9)cGt>cAt	p.R3H	RPL8_ENST00000529163.1_Intron|RPL8_ENST00000528957.1_Missense_Mutation_p.R3H|RPL8_ENST00000394920.2_Missense_Mutation_p.R3H|RPL8_ENST00000527914.1_Missense_Mutation_p.R3H	NM_000973.3	NP_000964.1	P62917	RL8_HUMAN	ribosomal protein L8	3					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	rRNA binding|structural constituent of ribosome	p.R3H(1)		kidney(12)|lung(7)|prostate(1)	20	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.191)		ACGGATCACACGGCCCATGGC	0.736													3	23					0	0	1	0	0	T	146017507	C	T	146017507	3	4	63	1	0	0	0	0	1	0	0	0	13654	536	19	1	785	1	RPL8	8	146017507	Missense_Mutation	SNP	C	TCGA-EJ-5530-01A-01D-1576-08	28138583	146017507	346515	34	3269											
FCN1	2219	broad.mit.edu	37	chr9	137803057	137803057	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caccttgaatgatttgtactTagcaaactggtggttgccct	9	14	9	9	0	0	2	0	2	0	0	0	2	0	2	2	2	4	3	2	2	4	5			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr9:137803057T>C	ENST00000371806.3	-	8	746	c.655A>G	c.(655-657)Aag>Gag	p.K219E		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	219	Fibrinogen C-terminal.				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding	p.K219E(1)		endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		GATTTGTACTTAGCAAACTGG	0.527													10	434					0	0	1	0	0	C	137803057	T	C	137803057	3	2	63	1	0	0	0	0	1	0	0	0	5824	1763	61	3	333	3	FCN1	9	137803057	Missense_Mutation	SNP	T	TCGA-EJ-5530-01A-01D-1576-08		137803057	3410374	35	3270											
LHX3	8022	broad.mit.edu	37	chr9	139090531	139090531	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcagcgtcgctgtcctgccCctcctgaacgctgtccttgt	3	12	9	17	3	1	1	1	1	0	0	5	1	4	1	5	0	3	2	5	0	1	1			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr9:139090531C>T	ENST00000371746.3	-	5	875	c.757G>A	c.(757-759)Ggg>Agg	p.G253R	LHX3_ENST00000371748.5_Missense_Mutation_p.G248R	NM_014564.3	NP_055379.1	Q9UBR4	LHX3_HUMAN	LIM homeobox 3	248					inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G253R(1)		large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		CTGTCCTGCCCCTCCTGAACG	0.711													9	15					0	0	1	0	0	T	139090531	C	T	139090531	3	4	63	1	0	0	0	0	1	0	0	0	8812	623	22	2	459	2	LHX3	9	139090531	Missense_Mutation	SNP	C	TCGA-EJ-5530-01A-01D-1576-08	1287474	139090531	2122900	36	3271											
ARHGAP21	57584	broad.mit.edu	37	chr10	24889811	24889811	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggtaaagtgaatgaccccGaaggacaacatacatctgtt	15	8	9	9	1	1	2	0	2	1	0	1	4	1	3	2	2	2	2	2	2	6	3			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr10:24889811G>A	ENST00000396432.2	-	14	3382	c.2896C>T	c.(2896-2898)Cgg>Tgg	p.R966W	ARHGAP21_ENST00000493154.1_Intron|ARHGAP21_ENST00000320481.6_Missense_Mutation_p.R753W	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	965	Interaction with ARF1 and ARF6.|PH.				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	p.R966W(1)|p.R965W(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GAATGACCCCGAAGGACAACA	0.423													14	146					0	0	1	0	0	A	24889811	G	A	24889811	3	1	63	1	0	0	0	0	1	0	0	0	868	1057	37	1	3032	1	ARHGAP21	10	24889811	Missense_Mutation	SNP	G	TCGA-EJ-5530-01A-01D-1576-08		24889811	110644936	37	3272											
DUSP13	0	broad.mit.edu	37	chr10	76854507	76854507	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggaagcctgagttagggCagatattgcggtgggcctgc	8	8	18	7	1	0	2	0	1	0	1	0	4	0	4	2	5	3	2	2	5	3	3			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr10:76854507C>T	ENST00000491677.2	-	8	1453	c.911G>A	c.(910-912)tGc>tAc	p.C304Y	DUSP13_ENST00000372700.3_Missense_Mutation_p.C225Y|DUSP13_ENST00000464872.1_Missense_Mutation_p.C124Y|DUSP13_ENST00000605915.1_Missense_Mutation_p.C197Y|DUSP13_ENST00000478873.2_Missense_Mutation_p.C311Y|DUSP13_ENST00000607131.1_Missense_Mutation_p.C268Y|DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000472493.2_Missense_Mutation_p.C175Y	NM_001007271.1	NP_001007272.1	Q6B8I1	MDSP_HUMAN	dual specificity phosphatase 13	166						cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.C175Y(2)|p.C304Y(1)		large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					TGAGTTAGGGCAGATATTGCG	0.617													11	31					0	0	1	0	0	T	76854507	C	T	76854507	3	4	63	1	0	0	0	0	1	0	0	0	4839	710	25	2	76	2	DUSP13	10	76854507	Missense_Mutation	SNP	C	TCGA-EJ-5530-01A-01D-1576-08	51964696	76854507	58680240	38	3273											
KIF20B	9585	broad.mit.edu	37	chr10	91470871	91470871	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agagaaagaagaaattgctaGcaaaagtgcattgcttcggc	16	8	11	6	1	0	3	0	0	0	3	1	4	0	3	0	1	4	4	0	1	6	4			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr10:91470871G>A	ENST00000416354.1	+	6	716	c.644G>A	c.(643-645)aGc>aAc	p.S215N	KIF20B_ENST00000260753.4_Missense_Mutation_p.S215N|KIF20B_ENST00000371728.3_Missense_Mutation_p.S215N|KIF20B_ENST00000394289.2_Missense_Mutation_p.S215N			Q96Q89	KI20B_HUMAN	kinesin family member 20B	215	Kinesin-motor.				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding	p.S215N(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						GAAATTGCTAGCAAAAGTGCA	0.313													11	130					0	0	1	0	0	A	91470871	G	A	91470871	3	1	63	1	0	0	0	0	1	0	0	0	8329	971	34	2	662	2	KIF20B	10	91470871	Missense_Mutation	SNP	G	TCGA-EJ-5530-01A-01D-1576-08	14616364	91470871	44063876	39	3274											
NELL1	4745	broad.mit.edu	37	chr11	21596534	21596534	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagaatggaagagtctgttGttctgtggattttgagtgtc	9	15	13	4	0	2	3	0	1	2	2	3	5	2	5	0	2	0	2	0	2	2	4			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr11:21596534G>T	ENST00000298925.5	+	21	2636	c.2483G>T	c.(2482-2484)tGt>tTt	p.C828F	NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000325319.5_Missense_Mutation_p.C743F|NELL1_ENST00000357134.5_Missense_Mutation_p.C800F|NELL1_ENST00000532434.1_Missense_Mutation_p.C753F			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	800					cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	p.C800F(1)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						AGAGTCTGTTGTTCTGTGGAT	0.358													3	87					0.00024832	0.000268386	1	1	0	T	21596534	G	T	21596534	3	4	63	1	0	0	0	0	1	0	0	0	10380	1377	48	4	2477	4	NELL1	11	21596534	Missense_Mutation	SNP	G	TCGA-EJ-5530-01A-01D-1576-08		21596534	113409982	40	3275											
MADD	8567	broad.mit.edu	37	chr11	47345221	47345221	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgctttgtgcacttctccaGgtgtgcgatgactgtgtggt	4	14	13	10	2	1	1	0	1	1	0	2	2	1	1	2	2	2	2	2	2	0	2			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr11:47345221G>C	ENST00000342922.4	+	28	4557		c.e28-1		MADD_ENST00000407859.3_Splice_Site|MADD_ENST00000405573.2_Splice_Site|MADD_ENST00000402799.1_Splice_Site|MADD_ENST00000402192.2_Splice_Site|MADD_ENST00000395336.3_Splice_Site|MADD_ENST00000395344.3_Splice_Site|MADD_ENST00000406482.1_Splice_Site|MADD_ENST00000311027.5_Splice_Site|MADD_ENST00000349238.3_Splice_Site	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain						activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity	p.?(2)		breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CACTTCTCCAGGTGTGCGATG	0.542													3	97					0	0	1	0	0	C	47345221	G	C	47345221	5	2	63	1	0	0	0	0	0	0	1	0	9198	1014	35	4	4495	4	MADD	11	47345221	Splice_Site	SNP	G	TCGA-EJ-5530-01A-01D-1576-08	25748687	47345221	87661295	41	3276											
OR5AS1	219447	broad.mit.edu	37	chr11	55798258	55798258	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcagcaatggcttatgacCgctatgcagccatctgcaac	10	9	10	12	1	1	1	0	1	1	0	1	1	1	1	2	2	5	6	2	2	4	2			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr11:55798258C>T	ENST00000313555.1	+	1	364	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	122			R -> L (in dbSNP:rs12224086).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R122C(3)		endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					GGCTTATGACCGCTATGCAGC	0.458													11	127					0	0	1	0	0	T	55798258	C	T	55798258	3	4	63	1	0	0	0	0	1	0	0	0	11193	652	23	1	366	1	OR5AS1	11	55798258	Missense_Mutation	SNP	C	TCGA-EJ-5530-01A-01D-1576-08	8453037	55798258	79208258	42	3277											
SPDYC	387778	broad.mit.edu	37	chr11	64939787	64939787	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgagtatacccacagcaGcctgttcttggccctgtgag	8	9	11	13	1	1	1	0	1	1	0	1	2	1	1	3	1	4	3	3	1	2	4			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr11:64939787G>A	ENST00000377185.2	+	4	411	c.329G>A	c.(328-330)aGc>aAc	p.S110N		NM_001008778.1	NP_001008778.1	Q5MJ68	SPDYC_HUMAN	speedy/RINGO cell cycle regulator family member C	110	Speedy/Ringo box; Required for CDK- binding (By similarity).				cell cycle	nucleus	protein kinase binding	p.S110N(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						ACCCACAGCAGCCTGTTCTTG	0.612													10	113					0	0	1	0	0	A	64939787	G	A	64939787	3	1	63	1	0	0	0	0	1	0	0	0	15084	971	34	2	343	2	SPDYC	11	64939787	Missense_Mutation	SNP	G	TCGA-EJ-5530-01A-01D-1576-08	9141529	64939787	70066729	43	3278											
RBMS2	5939	broad.mit.edu	37	chr12	56963707	56963707	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctttgtagattttgacaGcccttcagcagcacagaaag	11	11	10	9	0	1	3	1	1	0	2	1	3	1	3	1	1	3	4	1	1	2	5			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr12:56963707G>A	ENST00000262031.5	+	4	412	c.317G>A	c.(316-318)aGc>aAc	p.S106N	RBMS2_ENST00000552247.2_Missense_Mutation_p.S106N|RBMS2_ENST00000550726.1_5'UTR|RBMS2_ENST00000542360.1_5'UTR|RBMS2_ENST00000549945.1_3'UTR	NM_002898.3	NP_002889.1	Q15434	RBMS2_HUMAN	RNA binding motif, single stranded interacting protein 2	106	RRM 1.				RNA processing	nucleus	nucleotide binding|RNA binding	p.S106N(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1)	18						GATTTTGACAGCCCTTCAGCA	0.512													3	139					0	0	1	0	0	A	56963707	G	A	56963707	3	1	63	1	0	0	0	0	1	0	0	0	13201	971	34	2	331	2	RBMS2	12	56963707	Missense_Mutation	SNP	G	TCGA-EJ-5530-01A-01D-1576-08		56963707	76888188	44	3279											
B4GALNT1	2583	broad.mit.edu	37	chr12	58022636	58022636	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcccgtagccgatcataacGgaggaaggtcttggtggcaa	11	7	14	9	3	2	0	1	0	1	0	2	3	2	2	2	5	3	2	2	5	4	3			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr12:58022636G>T	ENST00000341156.4	-	8	1446	c.862C>A	c.(862-864)Cgt>Agt	p.R288S	B4GALNT1_ENST00000449184.3_Missense_Mutation_p.R255S|B4GALNT1_ENST00000418555.2_Missense_Mutation_p.R233S	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	288					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	p.R288S(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			CGATCATAACGGAGGAAGGTC	0.582													3	69					1	1	1	1	0	T	58022636	G	T	58022636	3	4	63	1	0	0	0	0	1	0	0	0	1264	1116	39	4	755	4	B4GALNT1	12	58022636	Missense_Mutation	SNP	G	TCGA-EJ-5530-01A-01D-1576-08	1058929	58022636	75829259	45	3280											
PXN	5829	broad.mit.edu	37	chr12	120657110	120657110	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcctgggtggcagcttccGtggtgccctctgggctcctt	1	12	14	14	2	1	0	0	0	1	0	4	0	4	0	4	4	2	3	4	4	0	2			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr12:120657110G>A	ENST00000397506.3	-	0	71				PXN_ENST00000267257.7_Intron|PXN_ENST00000536957.1_Intron|PXN_ENST00000228307.7_Intron|PXN_ENST00000538144.1_Intron|PXN_ENST00000424649.2_Intron|PXN_ENST00000458477.2_Intron			P49023	PAXI_HUMAN	paxillin						cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGCAGCTTCCGTGGTGCCCTC	0.622													4	121					0	0	1	0	0	A	120657110	G	A	120657110	1	1	63	1	0	0	0	0	0	0	0	0	12904	1160	40	1		1	PXN	12	120657110	Translation_Start_Site	SNP	G	TCGA-EJ-5530-01A-01D-1576-08	62634474	120657110	13194785	46	3281											
FNDC3A	22862	broad.mit.edu	37	chr13	49776084	49776084	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcactactccaaaatctGtcccagctgccttgaaaggt	10	13	6	12	0	2	1	1	1	1	0	4	1	4	1	3	1	3	1	3	1	4	4			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr13:49776084G>T	ENST00000492622.2	+	24	3441	c.3136G>T	c.(3136-3138)Gtc>Ttc	p.V1046F	FNDC3A_ENST00000541916.1_Missense_Mutation_p.V1046F|FNDC3A_ENST00000398316.3_Missense_Mutation_p.V990F	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	1046						Golgi membrane|integral to membrane		p.V1046F(1)		endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		TCCAAAATCTGTCCCAGCTGC	0.318													7	167					0.0381472	0.0396287	1	1	0	T	49776084	G	T	49776084	3	4	63	1	0	0	0	0	1	0	0	0	6002	1377	48	4	3237	4	FNDC3A	13	49776084	Missense_Mutation	SNP	G	TCGA-EJ-5530-01A-01D-1576-08		49776084	65393794	47	3282											
PCDH17	27253	broad.mit.edu	37	chr13	58299273	58299273	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgcattccagagccagcCgggattccagtgagatgggt	9	9	14	9	1	0	2	0	1	0	2	2	4	2	3	4	2	3	1	4	2	0	2			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr13:58299273C>T	ENST00000377918.3	+	4	3351	c.3325C>T	c.(3325-3327)Cgg>Tgg	p.R1109W		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	1109					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.R1109W(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CAGAGCCAGCCGGGATTCCAG	0.522													12	285					0	0	1	0	0	T	58299273	C	T	58299273	3	4	63	1	0	0	0	0	1	0	0	0	11559	643	23	1	3339	1	PCDH17	13	58299273	Missense_Mutation	SNP	C	TCGA-EJ-5530-01A-01D-1576-08	8523189	58299273	56870605	48	3283											
SLC10A2	6555	broad.mit.edu	37	chr13	103698541	103698541	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaacgatgactctggctccGttccattttctttgctctct	7	16	6	12	2	3	1	0	1	3	0	6	2	5	1	2	1	2	3	2	1	2	4			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr13:103698541G>A	ENST00000245312.3	-	6	1585	c.989C>T	c.(988-990)aCg>aTg	p.T330M		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	330					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity	p.T330M(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CTCTGGCTCCGTTCCATTTTC	0.373													4	106					0	0	1	0	0	A	103698541	G	A	103698541	3	1	63	1	0	0	0	0	1	0	0	0	14429	1145	40	1	61	1	SLC10A2	13	103698541	Missense_Mutation	SNP	G	TCGA-EJ-5530-01A-01D-1576-08	45399268	103698541	11471337	49	3284											
NUBPL	80224	broad.mit.edu	37	chr14	32295838	32295838	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtttatctttggctaggtgCtgtgattgtctccacgcccc	4	16	10	11	1	2	1	0	1	2	0	3	1	2	1	3	2	1	3	3	2	2	5			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr14:32295838C>T	ENST00000281081.7	+	8	656	c.611C>T	c.(610-612)gCt>gTt	p.A204V	NUBPL_ENST00000418681.2_3'UTR|NUBPL_ENST00000536705.1_Missense_Mutation_p.A108V	NM_001201573.1|NM_001201574.1|NM_025152.2	NP_001188502.1|NP_001188503.1|NP_079428.2	Q8TB37	NUBPL_HUMAN	nucleotide binding protein-like	204					mitochondrial respiratory chain complex I assembly|mitochondrion morphogenesis	mitochondrion	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding	p.A174V(1)		endometrium(1)|lung(2)|prostate(1)|skin(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.214)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0677)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0102)		TGGCTAGGTGCTGTGATTGTC	0.428													24	94					0	0	1	0	0	T	32295838	C	T	32295838	3	4	63	1	0	0	0	0	1	0	0	0	10765	797	28	2	641	2	NUBPL	14	32295838	Missense_Mutation	SNP	C	TCGA-EJ-5530-01A-01D-1576-08		32295838	75053702	50	3285											
DACT1	51339	broad.mit.edu	37	chr14	59113436	59113436	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagggcccggcgcggtcgcCgggagaatgtggggctgtac	5	5	21	10	5	0	1	0	0	0	1	1	3	0	2	2	7	1	2	2	7	2	1			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr14:59113436C>T	ENST00000395153.3	+	4	2131	c.1984C>T	c.(1984-1986)Cgg>Tgg	p.R662W	DACT1_ENST00000335867.4_Missense_Mutation_p.R699W|DACT1_ENST00000556859.1_Missense_Mutation_p.R418W|DACT1_ENST00000541264.2_Missense_Mutation_p.R418W|DACT1_ENST00000395151.3_Missense_Mutation_p.R418W	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	699					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus		p.R699W(1)		endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						GCGCGGTCGCCGGGAGAATGT	0.667													3	53					0	0	1	0	0	T	59113436	C	T	59113436	3	4	63	1	0	0	0	0	1	0	0	0	4246	643	23	1	2109	1	DACT1	14	59113436	Missense_Mutation	SNP	C	TCGA-EJ-5530-01A-01D-1576-08	26817598	59113436	48236104	51	3286											
AKT1	207	broad.mit.edu	37	chr14	105246551	105246551	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccgccaggtcttgatgtactCccctacagacgtgcgggtgg	6	9	13	13	3	1	2	0	1	1	1	2	2	2	2	4	3	3	1	4	3	2	3	rs34409589		TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr14:105246551C>T	ENST00000554581.1	-	2	1529	c.49G>A	c.(49-51)Gag>Aag	p.E17K	AKT1_ENST00000349310.3_Missense_Mutation_p.E17K|AKT1_ENST00000555528.1_Missense_Mutation_p.E17K|AKT1_ENST00000554848.1_Missense_Mutation_p.E17K|AKT1_ENST00000407796.2_Missense_Mutation_p.E17K|AKT1_ENST00000402615.2_Missense_Mutation_p.E17K			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	17	PH.		E -> K (in breast cancer; also detected in colorectal and ovarian cancer; somatic mutation; alters the PH domain conformation; results in activation of the protein; alters the subcellular location of the protein to the plasma membrane).		activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity	p.E17K(102)		NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	TTGATGTACTCCCCTACAGAC	0.612	E17K(KU1919_URINARY_TRACT)	1	Mis		"breast, colorectal, ovarian, NSCLC"								7	19					0	0	1	0	0	T	105246551	C	T	105246551	3	4	63	1	0	0	0	0	1	0	0	0	475	864	30	2	1441	2	AKT1	14	105246551	Missense_Mutation	SNP	C	TCGA-EJ-5530-01A-01D-1576-08	46133115	105246551	2102989	52	3287											
ALPK3	57538	broad.mit.edu	37	chr15	85410592	85410592	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagattgctaccaaactcCgagggtgagtggttcttggg	8	11	14	8	1	1	2	0	1	1	1	2	3	2	2	2	3	4	3	2	3	2	4			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr15:85410592C>T	ENST00000258888.5	+	13	5541	c.5374C>T	c.(5374-5376)Cga>Tga	p.R1792*		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1792	Alpha-type protein kinase.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	p.R1792*(2)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TACCAAACTCCGAGGGTGAGT	0.542													5	82					0	0	1	0	0	T	85410592	C	T	85410592	4	4	63	1	0	0	0	0	0	1	0	0	542	644	23	1	5424	1	ALPK3	15	85410592	Nonsense_Mutation	SNP	C	TCGA-EJ-5530-01A-01D-1576-08		85410592	17120800	53	3288											
ALDH1A3	220	broad.mit.edu	37	chr15	101425511	101425511	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacgaatccaagagtgggAaaaagtttgctacatgtaac	15	8	11	7	1	0	1	0	0	0	1	1	3	1	2	1	2	3	4	1	2	6	3			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr15:101425511A>G	ENST00000329841.5	+	2	671	c.139A>G	c.(139-141)Aaa>Gaa	p.K47E	ALDH1A3_ENST00000560555.1_3'UTR|ALDH1A3_ENST00000346623.6_Missense_Mutation_p.K47E	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	47					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity	p.K47E(2)		NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		NADH(DB00157)|Vitamin A(DB00162)	CAAGAGTGGGAAAAAGTTTGC	0.333													33	88					0	0	1	0	0	G	101425511	A	G	101425511	3	3	63	1	0	0	0	0	1	0	0	0	489	247	9	3	145	3	ALDH1A3	15	101425511	Missense_Mutation	SNP	A	TCGA-EJ-5530-01A-01D-1576-08	16014919	101425511	1105881	54	3289											
MSLNL	401827	broad.mit.edu	37	chr16	830489	830489	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catgaggctgtggatgcgtgCgggcacgcatgtgtaggtga	7	9	18	7	3	0	2	0	2	0	0	0	3	0	3	0	4	2	4	0	4	1	1			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr16:830489C>T	ENST00000293892.3	-	3	511	c.512G>A	c.(511-513)cGc>cAc	p.R171H	MSLNL_ENST00000442466.1_Intron			Q96KJ4	MSLNL_HUMAN	mesothelin-like	0					cell adhesion	integral to membrane		p.R171H(1)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						TGGATGCGTGCGGGCACGCAT	0.552													13	156					0	0	1	0	0	T	830489	C	T	830489	3	4	63	1	0	0	0	0	1	0	0	0	9930	768	27	1	2705	1	MSLNL	16	830489	Missense_Mutation	SNP	C	TCGA-EJ-5530-01A-01D-1576-08		830489	89524264	55	3290											
CALB2	794	broad.mit.edu	37	chr16	71419500	71419500	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatagaagcggctacattgaCgagcatgagctggatgccct	11	8	13	9	2	0	3	0	2	0	1	0	6	0	4	1	2	5	3	1	2	3	3			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr16:71419500C>T	ENST00000349553.5	+	8	634	c.554C>T	c.(553-555)aCg>aTg	p.T185M	CALB2_ENST00000302628.4_Silent_p.D216D	NM_007088.3	NP_009019.1	P22676	CALB2_HUMAN	calbindin 2	0	EF-hand 4.						calcium ion binding	p.D216D(2)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				GCTACATTGACGAGCATGAGC	0.567													11	32					0	0	1	0	0	T	71419500	C	T	71419500	3	4	63	1	0	0	0	0	1	0	0	0	2592	536	19	1	686	1	CALB2	16	71419500	Missense_Mutation	SNP	C	TCGA-EJ-5530-01A-01D-1576-08	70589011	71419500	18935253	56	3291											
ATMIN	23300	broad.mit.edu	37	chr16	81078505	81078505	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgatctggcctggaacaCgatggagtctcagttcagct	8	10	13	10	1	3	1	2	1	2	0	4	4	3	3	1	4	2	3	1	4	1	1			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr16:81078505C>G	ENST00000566488.1	+	3	2897	c.1934C>G	c.(1933-1935)aCg>aGg	p.T645R	ATMIN_ENST00000299575.4_Missense_Mutation_p.T801R|ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000564241.1_Missense_Mutation_p.T645R			O43313	ATMIN_HUMAN	ATM interactor	801					response to DNA damage stimulus	nucleus	zinc ion binding	p.T801R(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						GCCTGGAACACGATGGAGTCT	0.488													5	136					0	0	1	0	0	G	81078505	C	G	81078505	3	3	63	1	0	0	0	0	1	0	0	0	1109	536	19	4	2416	4	ATMIN	16	81078505	Missense_Mutation	SNP	C	TCGA-EJ-5530-01A-01D-1576-08	9659005	81078505	9276248	57	3292											
KSR1	8844	broad.mit.edu	37	chr17	25931720	25931720	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttaggctcgatgaccagcCgaaagcagatgtgttggaag	11	9	13	8	2	1	2	0	1	1	1	2	5	1	3	2	2	2	3	2	2	3	2			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr17:25931720C>T	ENST00000398988.3	+	15	1680	c.1235C>T	c.(1234-1236)cCg>cTg	p.P412L	KSR1_ENST00000509603.2_Missense_Mutation_p.P527L|KSR1_ENST00000581975.1_3'UTR|KSR1_ENST00000268763.6_Missense_Mutation_p.P412L|KSR1_ENST00000319524.6_Missense_Mutation_p.P549L	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	547					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.P527L(1)|p.P549L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GATGACCAGCCGAAAGCAGAT	0.552													14	81					0	0	1	0	0	T	25931720	C	T	25931720	3	4	63	1	0	0	0	0	1	0	0	0	8620	652	23	1	1277	1	KSR1	17	25931720	Missense_Mutation	SNP	C	TCGA-EJ-5530-01A-01D-1576-08		25931720	55263490	58	3293											
SAP30BP	29115	broad.mit.edu	37	chr17	73663474	73663474	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggcggggaagaagaatgttCtgtcgtctctcgcagtttac	8	12	13	8	3	2	2	0	0	2	2	5	3	2	3	0	3	1	3	0	3	4	3			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr17:73663474C>T	ENST00000584667.1	+	1	279	c.22C>T	c.(22-24)Ctg>Ttg	p.L8L	SAP30BP_ENST00000355423.3_Silent_p.L8L|SAP30BP_ENST00000579864.1_3'UTR	NM_013260.6	NP_037392.1	Q9UHR5	S30BP_HUMAN	SAP30 binding protein	8					apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.L8L(1)		kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)	17	all_cancers(13;6.42e-08)		all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GAAGAATGTTCTGTCGTCTCT	0.607													5	53					0	0	1	0	0	T	73663474	C	T	73663474	2	4	63	1	0	0	0	0	0	0	0	1	13887	912	32	2		2	SAP30BP	17	73663474	Silent	SNP	C	TCGA-EJ-5530-01A-01D-1576-08	47731754	73663474	7531736	59	3294											
SALL3	27164	broad.mit.edu	37	chr18	76755287	76755287	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgatgggcccgggcctggCgcccatgctggcccccccac	4	5	14	18	2	0	1	0	1	0	0	0	1	0	1	6	4	1	1	6	4	0	0			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr18:76755287C>A	ENST00000536229.3	+	2	3390	c.2681C>A	c.(2680-2682)gCg>gAg	p.A894E	SALL3_ENST00000575389.2_Missense_Mutation_p.A1027E|SALL3_ENST00000537592.2_Missense_Mutation_p.A1099E			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	1099					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A1099E(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CCGGGCCTGGCGCCCATGCTG	0.736													2	5					0.0016	0.001712	1	1	0	A	76755287	C	A	76755287	3	1	63	1	0	0	0	0	1	0	0	0	13864	768	27	4	3302	4	SALL3	18	76755287	Missense_Mutation	SNP	C	TCGA-EJ-5530-01A-01D-1576-08		76755287	1321961	60	3295											
DAZAP1	26528	broad.mit.edu	37	chr19	1418348	1418348	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acggtgctggccagcagaccGcacacgctagatggccgaaa	11	4	13	13	4	0	2	0	0	0	2	0	3	0	2	3	3	2	4	3	3	2	1			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr19:1418348G>A	ENST00000336761.6	+	3	421	c.216G>A	c.(214-216)ccG>ccA	p.P72P	DAZAP1_ENST00000586579.1_3'UTR|DAZAP1_ENST00000233078.4_Silent_p.P72P	NM_170711.1	NP_733829.1	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1	72	RRM 1.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGCAGACCGCACACGCTAG	0.522													4	125					0	0	1	0	0	A	1418348	G	A	1418348	2	1	63	1	0	0	0	0	0	0	0	1	4268	1074	38	1		1	DAZAP1	19	1418348	Silent	SNP	G	TCGA-EJ-5530-01A-01D-1576-08		1418348	57710635	61	3296											
MUC16	94025	broad.mit.edu	37	chr19	9070399	9070399	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttggaggtgaactcgttaCgggctctgggcttgttgtgc	5	14	15	7	2	1	1	0	1	1	0	2	2	1	2	0	4	3	4	0	4	2	4			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr19:9070399C>T	ENST00000397910.4	-	3	17250	c.17047G>A	c.(17047-17049)Gta>Ata	p.V5683I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5685	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.V5683I(2)|p.V1316I(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAACTCGTTACGGGCTCTGGG	0.512													7	73					0	0	1	0	0	T	9070399	C	T	9070399	3	4	63	1	0	0	0	0	1	0	0	0	10021	536	19	1	26804	1	MUC16	19	9070399	Missense_Mutation	SNP	C	TCGA-EJ-5530-01A-01D-1576-08	7652051	9070399	50058584	62	3297											
CCDC105	126402	broad.mit.edu	37	chr19	15132481	15132481	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaactatcctccggtgtacGaaatataaccaagagttgta	14	10	9	8	2	0	1	0	0	0	1	2	3	2	2	3	2	3	3	3	2	8	6			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr19:15132481G>A	ENST00000292574.3	+	5	1177	c.1095G>A	c.(1093-1095)acG>acA	p.T365T		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	365					microtubule cytoskeleton organization	microtubule		p.T365T(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						TCCGGTGTACGAAATATAACC	0.592													9	63					0	0	1	0	0	A	15132481	G	A	15132481	2	1	63	1	0	0	0	0	0	0	0	1	2758	1045	37	1		1	CCDC105	19	15132481	Silent	SNP	G	TCGA-EJ-5530-01A-01D-1576-08	6062082	15132481	43996502	63	3298											
ZNF43	7594	broad.mit.edu	37	chr19	21990989	21990989	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttgtagggttttcctccaGtatgaatttttttatgtgta	8	21	8	4	0	0	1	0	1	0	0	2	1	2	1	2	1	0	4	2	1	5	10	rs150351501		TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr19:21990989G>C	ENST00000594012.1	-	7	2346	c.1832C>G	c.(1831-1833)aCt>aGt	p.T611S	ZNF43_ENST00000354959.4_Missense_Mutation_p.T617S|ZNF43_ENST00000595461.1_Missense_Mutation_p.T611S|ZNF43_ENST00000598381.1_Missense_Mutation_p.T611S	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	617					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T617S(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TTTTCCTCCAGTATGAATTTT	0.343													8	116					0	0	1	0	0	C	21990989	G	C	21990989	3	2	63	1	0	0	0	0	1	0	0	0	17960	1029	36	4	583	4	ZNF43	19	21990989	Missense_Mutation	SNP	G	TCGA-EJ-5530-01A-01D-1576-08	6858508	21990989	37137994	64	3299											
CNOT3	4849	broad.mit.edu	37	chr19	54646887	54646887	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgcctcaagaaggtgtccGagggcgtggagcagtttgaa	9	8	16	8	2	1	2	1	1	0	1	2	4	2	3	2	3	2	3	2	3	3	1			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr19:54646887G>A	ENST00000406403.1	+	2	1661	c.58G>A	c.(58-60)Gag>Aag	p.E20K	CNOT3_ENST00000358389.3_5'UTR|CNOT3_ENST00000221232.5_Missense_Mutation_p.E20K			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	20					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	p.E20K(6)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GAAGGTGTCCGAGGGCGTGGA	0.557													19	241					0	0	1	0	0	A	54646887	G	A	54646887	3	1	63	1	0	0	0	0	1	0	0	0	3643	1059	37	1	64	1	CNOT3	19	54646887	Missense_Mutation	SNP	G	TCGA-EJ-5530-01A-01D-1576-08	32655898	54646887	4482096	65	3300											
SEC23B	10483	broad.mit.edu	37	chr20	18505662	18505662	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagcacccttttgcttcaagCaggtgagagcccaacatgga	11	8	11	11	0	1	1	1	1	0	1	1	4	1	2	2	2	5	3	2	2	2	3			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr20:18505662C>T	ENST00000336714.3	+	6	1119	c.687C>T	c.(685-687)agC>agT	p.S229S	SEC23B_ENST00000377465.1_Silent_p.S229S|SEC23B_ENST00000262544.2_Silent_p.S229S|SEC23B_ENST00000377475.3_Silent_p.S229S	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	229					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding	p.S229S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						TTGCTTCAAGCAGGTGAGAGC	0.443													3	49					0	0	1	0	0	T	18505662	C	T	18505662	2	4	63	1	0	0	0	0	0	0	0	1	14046	709	25	2		2	SEC23B	20	18505662	Silent	SNP	C	TCGA-EJ-5530-01A-01D-1576-08		18505662	44519858	66	3301											
KRTAP19-5	337972	broad.mit.edu	37	chr21	31874243	31874243	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcatgatggacggcagctgcGgtatccatagcctccgaagc	9	7	13	12	3	0	1	0	1	0	0	2	3	2	2	3	3	4	4	3	3	3	2			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr21:31874243G>A	ENST00000334151.2	-	1	192	c.166C>T	c.(166-168)Cgc>Tgc	p.R56C		NM_181611.1	NP_853642.1	Q3LI72	KR195_HUMAN	keratin associated protein 19-5	56						intermediate filament	protein binding	p.R56C(1)		endometrium(1)|large_intestine(5)|lung(4)|pancreas(1)|prostate(1)	12						CGGCAGCTGCGGTATCCATAG	0.532													4	91					0	0	1	0	0	A	31874243	G	A	31874243	3	1	63	1	0	0	0	0	1	0	0	0	8575	1116	39	1	55	1	KRTAP19-5	21	31874243	Missense_Mutation	SNP	G	TCGA-EJ-5530-01A-01D-1576-08		31874243	16255652	67	3302											
AIFM3	150209	broad.mit.edu	37	chr22	21330001	21330001	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccctggacacacagcctgaGcagctggccctgaggcccaa	9	5	11	16	0	0	2	0	2	0	0	1	3	1	3	4	3	3	2	4	3	1	0	rs143272206		TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr22:21330001G>T	ENST00000399167.2	+	9	981	c.741G>T	c.(739-741)gaG>gaT	p.E247D	AIFM3_ENST00000335375.5_Missense_Mutation_p.E235D|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000440238.2_Missense_Mutation_p.E247D|AIFM3_ENST00000405089.1_Missense_Mutation_p.E253D|AIFM3_ENST00000333607.6_Missense_Mutation_p.E247D|AIFM3_ENST00000399163.2_Missense_Mutation_p.E247D	NM_144704.2	NP_653305.1			apoptosis-inducing factor, mitochondrion-associated, 3									p.E247D(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CACAGCCTGAGCAGCTGGCCC	0.632													11	129					0.000151284	0.000165178	1	1	0	T	21330001	G	T	21330001	3	4	63	1	0	0	0	0	1	0	0	0	425	962	34	4	789	4	AIFM3	22	21330001	Missense_Mutation	SNP	G	TCGA-EJ-5530-01A-01D-1576-08		21330001	29974565	68	3303											
PACSIN2	11252	broad.mit.edu	37	chr22	43289513	43289513	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccactcagtgagctgctgcGcatacgccttctcgatgcgc	6	9	10	16	4	2	1	1	1	1	0	3	2	2	1	2	0	5	3	2	0	1	2			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chr22:43289513G>A	ENST00000263246.3	-	3	368	c.167C>T	c.(166-168)gCg>gTg	p.A56V	PACSIN2_ENST00000403744.3_Missense_Mutation_p.A56V|PACSIN2_ENST00000496919.1_5'UTR|PACSIN2_ENST00000402229.1_Missense_Mutation_p.A56V|PACSIN2_ENST00000337959.4_Missense_Mutation_p.A56V|PACSIN2_ENST00000407585.1_Missense_Mutation_p.A56V	NM_001184970.1	NP_001171899.1	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in neurons 2	56	FCH.				actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity	p.A56V(1)		NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	19		Glioma(61;0.222)				GAGCTGCTGCGCATACGCCTT	0.652													7	63					0	0	1	0	0	A	43289513	G	A	43289513	3	1	63	1	0	0	0	0	1	0	0	0	11422	1087	38	1	1329	1	PACSIN2	22	43289513	Missense_Mutation	SNP	G	TCGA-EJ-5530-01A-01D-1576-08	21959512	43289513	8015053	69	3304											
ARSE	415	broad.mit.edu	37	chrX	2867523	2867523	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aagggctgaccagatgaccgGcatccacgagacgggtatca	12	5	13	11	3	1	4	1	2	0	2	2	5	2	4	3	3	0	3	3	3	2	1			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chrX:2867523G>A	ENST00000545496.1	-	7	1042	c.751C>T	c.(751-753)Ccg>Tcg	p.P251S	ARSE_ENST00000540563.1_Missense_Mutation_p.P181S|ARSE_ENST00000381134.3_Missense_Mutation_p.P226S			P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	226					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding	p.P226S(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CAGATGACCGGCATCCACGAG	0.542													3	47					0	0	1	0	0	A	2867523	G	A	2867523	3	1	63	1	0	0	0	0	1	0	0	0	989	1203	42	2	1117	2	ARSE	23	2867523	Missense_Mutation	SNP	G	TCGA-EJ-5530-01A-01D-1576-08		2867523	152403037	70	3305											
RPS6KA6	27330	broad.mit.edu	37	chrX	83411185	83411185	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgagtaatagggatttctttAacaactccttcatcctgtaa	12	15	6	8	0	2	1	1	1	1	0	4	2	4	2	2	1	2	2	2	1	5	7			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chrX:83411185A>T	ENST00000262752.2	-	3	163	c.156T>A	c.(154-156)gtT>gtA	p.V52V	RPS6KA6_ENST00000543399.1_Silent_p.V52V	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	52					axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.V52V(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						GGATTTCTTTAACAACTCCTT	0.353													5	39					0	0	1	0	0	T	83411185	A	T	83411185	2	4	63	1	0	0	0	0	0	0	0	1	13707	349	13	5		5	RPS6KA6	23	83411185	Silent	SNP	A	TCGA-EJ-5530-01A-01D-1576-08	80543662	83411185	71859375	71	3306											
MST4	0	broad.mit.edu	37	chrX	131207114	131207114	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaagaaactaattgaaaaaTttcaaaagtaagttggaaat	21	11	7	2	0	1	3	1	2	0	1	1	4	1	4	0	1	1	2	0	1	9	5			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chrX:131207114T>A	ENST00000394334.2	+	11	1472	c.1219T>A	c.(1219-1221)Ttt>Att	p.F407I	MST4_ENST00000394335.2_Missense_Mutation_p.F330I|MST4_ENST00000496850.1_Missense_Mutation_p.F345I|MST4_ENST00000481105.1_Missense_Mutation_p.F429I|MST4_ENST00000354719.6_Missense_Mutation_p.F383I	NM_016542.3	NP_057626.2	Q9P289	MST4_HUMAN		407					cellular component disassembly involved in apoptosis|regulation of apoptosis	cytosol|Golgi membrane	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity	p.F407I(1)		endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					AATTGAAAAATTTCAAAAGTA	0.343													3	66					0	0	1	0	0	A	131207114	T	A	131207114	3	1	63	1	0	0	0	0	1	0	0	0	9940	1493	52	5	1257	5	MST4	23	131207114	Missense_Mutation	SNP	T	TCGA-EJ-5530-01A-01D-1576-08	47795929	131207114	24063446	72	3307											
AFF2	2334	broad.mit.edu	37	chrX	148037365	148037365	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcattagggagaaagcccGtccacggcccactcagaaaa	13	6	9	13	2	2	2	2	0	1	2	4	3	3	2	3	2	1	0	3	2	4	1			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chrX:148037365G>A	ENST00000370460.2	+	11	2269	c.1790G>A	c.(1789-1791)cGt>cAt	p.R597H	AFF2_ENST00000370457.5_Missense_Mutation_p.R564H|AFF2_ENST00000286437.5_Missense_Mutation_p.R238H|AFF2_ENST00000342251.3_Missense_Mutation_p.R564H	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	597					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	p.R597H(3)|p.R238H(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GAGAAAGCCCGTCCACGGCCC	0.468													27	113					0	0	1	0	0	A	148037365	G	A	148037365	3	1	63	1	0	0	0	0	1	0	0	0	356	1145	40	1	1887	1	AFF2	23	148037365	Missense_Mutation	SNP	G	TCGA-EJ-5530-01A-01D-1576-08	16830251	148037365	7233195	73	3308											
CNGA2	1260	broad.mit.edu	37	chrX	150911712	150911712	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catccacagccctgaggtgcGcttcaaccgcctgctgcact	7	8	9	17	2	1	1	1	1	0	0	2	1	2	1	4	1	5	3	4	1	1	1			TCGA-EJ-5530-01A-01D-1576-08	TCGA-EJ-5530-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	058daa8b-f3ee-4992-b05e-91c13d9945ec	b153654d-dc6f-4409-afb3-30fd935ea8b5	g.chrX:150911712G>A	ENST00000329903.4	+	6	770	c.737G>A	c.(736-738)cGc>cAc	p.R246H		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	246					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	p.R246H(1)		breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					CCTGAGGTGCGCTTCAACCGC	0.532													4	87					0	0	1	0	0	A	150911712	G	A	150911712	3	1	63	1	0	0	0	0	1	0	0	0	3620	1087	38	1	759	1	CNGA2	23	150911712	Missense_Mutation	SNP	G	TCGA-EJ-5530-01A-01D-1576-08	2874347	150911712	4358848	74	3309											
FBXO6	26270	broad.mit.edu	37	chr1	11733821	11733821	+	Frame_Shift_Del	DEL	G	G	-																															cccaagatgaccaggaaccaGgcctcctccgaggctcagcc																										TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr1:11733821delG	ENST00000376753.4	+	6	930	c.795delG	c.(793-795)cafs	p.Q265fs		NM_018438.5	NP_060908.1	Q9NRD1	FBX6_HUMAN	F-box protein 6	265					DNA damage checkpoint|DNA repair|ER-associated protein catabolic process|response to unfolded protein|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	glycoprotein binding			breast(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	6	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.25e-06)|COAD - Colon adenocarcinoma(227;0.000251)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGGAACCAGGCCTCCTCCG	0.617													8	91	---	---	---	---						-	11733821	G	-	11733821	7	5	64	1	0	1	0	1	0	0	0	0	5792	991	35	0	813	0	FBXO6	1	11733821	Frame_Shift_Del	DEL	G	TCGA-EJ-5531-01A-01D-1576-08		11733821	237516800	1	3310											
COL24A1	255631	broad.mit.edu	37	chr1	86590963	86590963	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctcactgatgcgatgagtGgtcactgacaggctgaaatt	10	10	12	9	1	2	4	2	4	0	0	2	5	2	4	1	2	1	1	1	2	1	1			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr1:86590963G>T	ENST00000370571.2	-	3	1422	c.1056C>A	c.(1054-1056)acC>acA	p.T352T	COL24A1_ENST00000436319.1_Silent_p.T352T	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	352					cell adhesion	collagen	extracellular matrix structural constituent	p.T352T(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TGCGATGAGTGGTCACTGACA	0.413													5	111					0.184627	0.187228	0.184627	1	0	T	86590963	G	T	86590963	2	4	64	1	0	0	0	0	0	0	0	1	3706	1335	47	4		4	COL24A1	1	86590963	Silent	SNP	G	TCGA-EJ-5531-01A-01D-1576-08	74857142	86590963	162659658	2	3311											
ETV3L	440695	broad.mit.edu	37	chr1	157067666	157067666	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgagcactcacggtagaCgctgctgctgctccccttct	5	11	9	16	2	2	2	1	1	1	1	3	2	3	2	3	1	4	6	3	1	1	3			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr1:157067666C>T	ENST00000454449.2	-	4	885	c.601G>A	c.(601-603)Gtc>Atc	p.V201I		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	201						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.V201I(3)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				TCACGGTAGACGCTGCTGCTG	0.632													25	202					0	0	0.717897	0	0	T	157067666	C	T	157067666	3	4	64	1	0	0	0	0	1	0	0	0	5308	536	19	1	492	1	ETV3L	1	157067666	Missense_Mutation	SNP	C	TCGA-EJ-5531-01A-01D-1576-08	70476703	157067666	92182955	3	3312											
INTS7	25896	broad.mit.edu	37	chr1	212118153	212118153	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttgtccagatttactctgCagtgtggaagaaacattcag	11	13	9	8	0	3	2	1	0	2	2	4	3	4	3	1	1	3	1	1	1	3	4			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr1:212118153C>T	ENST00000366994.3	-	19	2678	c.2574G>A	c.(2572-2574)ctG>ctA	p.L858L	INTS7_ENST00000366993.3_Silent_p.L844L|INTS7_ENST00000366992.3_Silent_p.L838L|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000440600.2_Silent_p.L809L	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	858					snRNA processing	integrator complex	protein binding	p.L858L(1)		NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		ATTTACTCTGCAGTGTGGAAG	0.423													24	160					0	0	0.654019	0	0	T	212118153	C	T	212118153	2	4	64	1	0	0	0	0	0	0	0	1	7827	697	25	2		2	INTS7	1	212118153	Silent	SNP	C	TCGA-EJ-5531-01A-01D-1576-08	55050487	212118153	37132468	4	3313											
GOLGB1	2804	broad.mit.edu	37	chr3	121409629	121409629	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcttcccttcctctgactttCgaaatttctccagctcattc	6	16	4	15	1	3	1	1	1	2	0	8	2	5	1	3	0	1	2	3	0	1	5			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr3:121409629C>T	ENST00000393667.3	-	14	8692	c.8582G>A	c.(8581-8583)cGa>cAa	p.R2861Q	GOLGB1_ENST00000340645.5_Missense_Mutation_p.R2856Q	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	2856					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CTCTGACTTTCGAAATTTCTC	0.458													4	46					0	0	0.217242	0	0	T	121409629	C	T	121409629	3	4	64	1	0	0	0	0	1	0	0	0	6604	884	31	1	1248	1	GOLGB1	3	121409629	Missense_Mutation	SNP	C	TCGA-EJ-5531-01A-01D-1576-08		121409629	76612801	5	3314											
CRIPAK	285464	broad.mit.edu	37	chr4	1389462	1389463	+	Frame_Shift_Del	DEL	CG	CG	-																															agtgcctgcctgctcacacaCgtgcccatgtggagtgcccg																										TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr4:1389462_1389463delCG	ENST00000324803.4	+	1	4123_4124	c.1163_1164delCG	c.(1162-1164)afs	p.T388fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	388	Interaction with PAK1.				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			TGCTCACACACGTGCCCATGTG	0.624													7	513	---	---	---	---						-	1389463	CG	-	1389462	7	5	64	1	0	1	0	1	0	0	0	0	3900	536	19	0	1165	0	CRIPAK	4	1389462	Frame_Shift_Del	DEL	CG	TCGA-EJ-5531-01A-01D-1576-08		1389462	189764814	6	3315											
MAML3	55534	broad.mit.edu	37	chr4	140811117	140811117	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgctgCtgctgttgctgttgctgttt	0	18	13	10	0	0	0	0	0	0	0	0	0	0	0	0	0	10	13	0	0	0	3	rs62344938		TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr4:140811117C>T	ENST00000509479.2	-	2	2329	c.1473G>A	c.(1471-1473)caG>caA	p.Q491Q	MAML3_ENST00000327122.5_Silent_p.Q335Q|MAML3_ENST00000398940.1_Silent_p.Q30Q	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	491	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgttgct	0.547													7	27					0	0	0.27861	0	0	T	140811117	C	T	140811117	2	4	64	1	0	0	0	0	0	0	0	1	9257	796	28	2		2	MAML3	4	140811117	Silent	SNP	C	TCGA-EJ-5531-01A-01D-1576-08	139421655	140811117	50343159	7	3316											
OTUD4	54726	broad.mit.edu	37	chr4	146077123	146077125	+	In_Frame_Del	DEL	CAG	CAG	-																															aggtttaaatccattcacatCagcagcagcagcagcagtct																										TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr4:146077123_146077125delCAG	ENST00000454497.2	-	8	595_597	c.458_460delCTG	c.(457-462)gat>g	p.AD153del	OTUD4_ENST00000447906.2_In_Frame_Del_p.AD218del|OTUD4_ENST00000455611.2_5'UTR	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	218	OTU.						protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CCATTCACATCAGCAGCAGCAGC	0.34													7	175	---	---	---	---						-	146077125	CAG	-	146077123	7	5	64	1	0	1	0	1	0	0	0	0	11361	826	29	0	2745	0	OTUD4	4	146077123	In_Frame_Del	DEL	CAG	TCGA-EJ-5531-01A-01D-1576-08	5266006	146077123	45077153	8	3317											
ZNF827	152485	broad.mit.edu	37	chr4	146824230	146824230	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggggacgtggactgctcctGgatccggtcctccagagaca	7	7	14	13	3	0	1	0	0	0	1	4	5	4	4	4	5	1	1	4	5	0	0			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr4:146824230G>A	ENST00000508784.1	-	2	408	c.181C>T	c.(181-183)Cag>Tag	p.Q61*	ZNF827_ENST00000513320.1_Intron|ZNF827_ENST00000379448.4_Nonsense_Mutation_p.Q61*			Q17R98	ZN827_HUMAN	zinc finger protein 827	61					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q61*(2)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					GACTGCTCCTGGATCCGGTCC	0.567													14	79					0	0	0.479597	0	0	A	146824230	G	A	146824230	4	1	64	1	0	0	0	0	0	1	0	0	18227	1357	47	2	3100	2	ZNF827	4	146824230	Nonsense_Mutation	SNP	G	TCGA-EJ-5531-01A-01D-1576-08	747107	146824230	44330046	9	3318											
NAF1	92345	broad.mit.edu	37	chr4	164050124	164050124	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggtggagggggagggggTgggggtagggagtatggtaa	8	7	26	0	0	0	0	0	0	0	0	0	3	0	3	0	10	0	3	0	10	3	3			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr4:164050124T>G	ENST00000274054.2	-	8	1603	c.1410A>C	c.(1408-1410)ccA>ccC	p.P470P	NAF1_ENST00000422287.2_Intron|NAF1_ENST00000509434.1_Intron	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	470	Pro-rich.				rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				ggggagggggtgggggtaggg	0.522													5	9					0	0	0.361761	0	0	G	164050124	T	G	164050124	2	3	64	1	0	0	0	0	0	0	0	1	10188	1683	59	5		5	NAF1	4	164050124	Silent	SNP	T	TCGA-EJ-5531-01A-01D-1576-08	17225894	164050124	27104152	10	3319											
EEF1E1	9521	broad.mit.edu	37	chr6	8097597	8097597	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgattgctttttcttctgcaGtactccccagcaaatattct	8	16	5	12	1	3	0	0	0	3	0	4	1	4	0	2	0	4	4	2	0	3	7			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr6:8097597G>A	ENST00000379715.5	-	2	247	c.191C>T	c.(190-192)aCt>aTt	p.T64I	EEF1E1_ENST00000429723.2_Missense_Mutation_p.T64I|EEF1E1_ENST00000507463.1_Missense_Mutation_p.T64I|EEF1E1-MUTED_ENST00000397456.2_Missense_Mutation_p.T64I	NM_004280.4	NP_004271.1	O43324	MCA3_HUMAN	eukaryotic translation elongation factor 1 epsilon 1	64	GST C-terminal.				negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of DNA damage response, signal transduction by p53 class mediator|tRNA aminoacylation for protein translation	cytosol|nucleus		p.T64I(1)		endometrium(1)|prostate(1)	2	Ovarian(93;0.0398)					TTCTTCTGCAGTACTCCCCAG	0.428													18	162					0	0	0.539581	0	0	A	8097597	G	A	8097597	3	1	64	1	0	0	0	0	1	0	0	0	4953	1029	36	2	385	2	EEF1E1	6	8097597	Missense_Mutation	SNP	G	TCGA-EJ-5531-01A-01D-1576-08		8097597	163017470	11	3320											
HSP90AB1	3326	broad.mit.edu	37	chr6	44221299	44221299	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatcccccctctcgagggCgatgaggatgcgtctcgcat	7	8	13	13	4	2	2	0	1	2	1	5	6	3	3	3	2	1	1	3	2	0	0	rs143048794	byFrequency	TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr6:44221299C>T	ENST00000371554.1	+	12	2353	c.2139C>T	c.(2137-2139)ggC>ggT	p.G713G	HSP90AB1_ENST00000371646.5_Silent_p.G713G|HSP90AB1_ENST00000353801.3_Silent_p.G713G			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	713					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding	p.G713G(1)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CTCTCGAGGGCGATGAGGATG	0.498											OREG0017471	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	72					0	0	0.592651	0	0	T	44221299	C	T	44221299	2	4	64	1	0	0	0	0	0	0	0	1	7445	755	27	1		1	HSP90AB1	6	44221299	Silent	SNP	C	TCGA-EJ-5531-01A-01D-1576-08	36123702	44221299	126893768	12	3321											
HCRTR2	3062	broad.mit.edu	37	chr6	55142195	55142195	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatccctggaacatcatcTgtagttcagagaaaatggaa	15	9	9	8	0	3	2	2	0	1	2	4	5	4	4	1	2	1	2	1	2	5	2			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr6:55142195T>C	ENST00000370862.3	+	5	1116	c.780T>C	c.(778-780)tcT>tcC	p.S260S		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	260					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GAACATCATCTGTAGTTCAGA	0.483													9	75					0	0	0.335167	0	0	C	55142195	T	C	55142195	2	2	64	1	0	0	0	0	0	0	0	1	7043	1567	55	3		3	HCRTR2	6	55142195	Silent	SNP	T	TCGA-EJ-5531-01A-01D-1576-08	10920896	55142195	115972872	13	3322											
IL7	3574	broad.mit.edu	37	chr8	79645969	79645969	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagtgttctttagtgcccatCaaaattttattccaacaagt	12	15	5	9	0	2	0	1	0	1	0	3	0	3	0	2	0	2	1	2	0	6	6			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr8:79645969C>G	ENST00000263851.4	-	6	1113	c.513G>C	c.(511-513)ttG>ttC	p.L171F	IL7_ENST00000520269.1_Missense_Mutation_p.L127F|IL7_ENST00000541183.1_Missense_Mutation_p.L58F|IL7_ENST00000519833.1_Intron	NM_000880.3|NM_001199886.1|NM_001199887.1	NP_000871.1|NP_001186815.1|NP_001186816.1	P13232	IL7_HUMAN	interleukin 7	171					bone resorption|cell-cell signaling|humoral immune response|organ morphogenesis|positive regulation of B cell proliferation|positive regulation of T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-7 receptor binding			endometrium(2)|large_intestine(2)|lung(1)	5						TAGTGCCCATCAAAATTTTAT	0.323													15	103					0	0	0.500413	0	0	G	79645969	C	G	79645969	3	3	64	1	0	0	0	0	1	0	0	0	7748	825	29	4	24	4	IL7	8	79645969	Missense_Mutation	SNP	C	TCGA-EJ-5531-01A-01D-1576-08		79645969	66718053	14	3323											
PKHD1L1	93035	broad.mit.edu	37	chr8	110439239	110439239	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgagtgcaggcctccccGctgctgtgtcagctgcagat	5	10	13	13	1	1	2	1	1	0	1	2	2	2	2	3	1	4	5	3	1	0	0			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr8:110439239G>A	ENST00000378402.5	+	25	2958	c.2854G>A	c.(2854-2856)Gct>Act	p.A952T		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	952					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.A954T(1)|p.A952T(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGGCCTCCCCGCTGCTGTGTC	0.562										HNSCC(38;0.096)			8	109					0	0	0.335167	0	0	A	110439239	G	A	110439239	3	1	64	1	0	0	0	0	1	0	0	0	12020	1087	38	1	2952	1	PKHD1L1	8	110439239	Missense_Mutation	SNP	G	TCGA-EJ-5531-01A-01D-1576-08	30793270	110439239	35924783	15	3324											
BAI1	575	broad.mit.edu	37	chr8	143558817	143558817	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtggccgtggctttcgggatCgcacgcgcacctgcaggccc	4	7	15	15	5	0	0	0	0	0	0	2	1	0	1	3	4	1	4	3	4	0	1			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr8:143558817C>T	ENST00000517894.1	+	6	2188	c.1294C>T	c.(1294-1296)Cgc>Tgc	p.R432C	BAI1_ENST00000323289.5_Missense_Mutation_p.R432C			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	432	TSP type-1 3.				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CTTTCGGGATCGCACGCGCAC	0.652													6	119					0	0	0.248553	0	0	T	143558817	C	T	143558817	3	4	64	1	0	0	0	0	1	0	0	0	1296	884	31	1	1312	1	BAI1	8	143558817	Missense_Mutation	SNP	C	TCGA-EJ-5531-01A-01D-1576-08	33119578	143558817	2805205	16	3325											
ABL1	25	broad.mit.edu	37	chr9	133759490	133759492	+	In_Frame_Del	DEL	AAG	AAG	-																															acttgttcagcgccttgatcAagaagaagaagaagacagcc																										TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr9:133759490_133759492delAAG	ENST00000318560.5	+	11	2194_2196	c.1813_1815delAAG	c.(1813-1815)del	p.K609del		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	609	Poly-Lys.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	CGCCTTGATCAAGAAGAAGAAGA	0.616			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"								14	320	---	---	---	---						-	133759492	AAG	-	133759490	7	5	64	1	0	1	0	1	0	0	0	0	92	131	5	0	1995	0	ABL1	9	133759490	In_Frame_Del	DEL	AAG	TCGA-EJ-5531-01A-01D-1576-08		133759490	7453941	17	3326											
SARDH	1757	broad.mit.edu	37	chr9	136597652	136597652	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtctcctcctccagctcccGgctcaccacccgccgagtgt	4	8	8	21	4	2	0	1	0	1	0	6	1	5	0	7	1	1	2	7	1	0	0			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr9:136597652G>A	ENST00000371872.4	-	3	660	c.403C>T	c.(403-405)Cgg>Tgg	p.R135W	SARDH_ENST00000439388.1_Missense_Mutation_p.R135W|SARDH_ENST00000422262.2_5'UTR|SARDH_ENST00000298628.5_Missense_Mutation_p.R135W|SARDH_ENST00000371867.1_Missense_Mutation_p.R46W	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	135					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	p.R135W(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		TCCAGCTCCCGGCTCACCACC	0.677													39	222					0	0	0.870114	0	0	A	136597652	G	A	136597652	3	1	64	1	0	0	0	0	1	0	0	0	13894	1115	39	1	2429	1	SARDH	9	136597652	Missense_Mutation	SNP	G	TCGA-EJ-5531-01A-01D-1576-08	2838162	136597652	4615779	18	3327											
PNPLA7	375775	broad.mit.edu	37	chr9	140437911	140437912	+	Frame_Shift_Ins	INS	-	-	C																															tttcagcatgtacagaacttINSccgatggcaggtgagaattc																										TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr9:140437911_140437912insC	ENST00000406427.1	-	6	814_815	c.478_479insG	c.(478-480)agtfs	p.S160fs	PNPLA7_ENST00000277531.4_Frame_Shift_Ins_p.S135fs	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	135					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GTACAGAACTTCCGATGGCAGG	0.639													7	197	---	---	---	---						C	140437912	-	C	140437911	7	5	64	1	0	1	1	0	0	0	0	0	12218	1783	62	0	3669	0	PNPLA7	9	140437911	Frame_Shift_Ins	INS	-	TCGA-EJ-5531-01A-01D-1576-08	3840259	140437911	775520	19	3328											
FAM171A1	221061	broad.mit.edu	37	chr10	15256160	15256160	+	Frame_Shift_Del	DEL	C	C	-																															cattgcccgaggactcgtagCcttctctttccatagatttt																										TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr10:15256160delC	ENST00000378116.4	-	8	1433	c.1427delG	c.(1426-1428)gcfs	p.G476fs		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	476						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GGACTCGTAGCCTTCTCTTTC	0.483													21	132	---	---	---	---						-	15256160	C	-	15256160	7	5	64	1	0	1	0	1	0	0	0	0	5520	739	26	0	1249	0	FAM171A1	10	15256160	Frame_Shift_Del	DEL	C	TCGA-EJ-5531-01A-01D-1576-08		15256160	120278587	20	3329											
ANK3	288	broad.mit.edu	37	chr10	61832387	61832388	+	Frame_Shift_Ins	INS	-	-	T																															gggtagcttgctctcctgtaINStttttttaactgggattctg																										TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr10:61832387_61832388insT	ENST00000280772.1	-	37	8442_8443	c.8251_8252insA	c.(8251-8253)acafs	p.T2751fs	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2751					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GCTCTCCTGTATTTTTTTAACT	0.401													18	156	---	---	---	---						T	61832388	-	T	61832387	7	5	64	1	0	1	1	0	0	0	0	0	618	449	16	0	5222	0	ANK3	10	61832387	Frame_Shift_Ins	INS	-	TCGA-EJ-5531-01A-01D-1576-08	46576227	61832387	73702360	21	3330											
MUC2	4583	broad.mit.edu	37	chr11	1081737	1081737	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgggggccggctttgccaaCacctggaaggcacagtcaag	10	5	14	12	2	1	0	1	0	0	0	1	1	1	1	3	5	2	2	3	5	3	1			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr11:1081737C>T	ENST00000441003.2	+	13	1692	c.1665C>T	c.(1663-1665)aaC>aaT	p.N555N	MUC2_ENST00000359061.5_Silent_p.N555N	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	555	VWFD 2.					inner mucus layer|outer mucus layer	protein binding	p.N555N(2)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GCTTTGCCAACACCTGGAAGG	0.652													13	57					0	0	0.435327	0	0	T	1081737	C	T	1081737	2	4	64	1	0	0	0	0	0	0	0	1	10023	477	17	2		2	MUC2	11	1081737	Silent	SNP	C	TCGA-EJ-5531-01A-01D-1576-08		1081737	133924779	22	3331											
SLC1A2	6506	broad.mit.edu	37	chr11	35313864	35313864	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcccagggcagtgatccaaGcttggaaaatgccagcaaaa	14	6	11	10	0	0	1	0	1	0	0	1	2	1	2	3	2	4	3	3	2	5	1			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr11:35313864G>A	ENST00000278379.3	-	7	1343	c.1061C>T	c.(1060-1062)gCt>gTt	p.A354V	SLC1A2_ENST00000395750.1_Missense_Mutation_p.A345V|SLC1A2_ENST00000395753.1_Missense_Mutation_p.A345V|SLC1A2_ENST00000606205.1_Missense_Mutation_p.A354V	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	354					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	AGTGATCCAAGCTTGGAAAAT	0.463													19	419					0	0	0.608945	0	0	A	35313864	G	A	35313864	3	1	64	1	0	0	0	0	1	0	0	0	14487	971	34	2	683	2	SLC1A2	11	35313864	Missense_Mutation	SNP	G	TCGA-EJ-5531-01A-01D-1576-08	34232127	35313864	99692652	23	3332											
OR4S2	219431	broad.mit.edu	37	chr11	55418689	55418689	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcaactgtttggagtacatTtctttggttgcactgagatc	8	16	10	7	0	1	1	0	1	1	1	2	3	1	2	0	2	4	5	0	2	2	5			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr11:55418689T>A	ENST00000312422.2	+	1	310	c.310T>A	c.(310-312)Ttc>Atc	p.F104I		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				TGGAGTACATTTCTTTGGTTG	0.428													19	288					0	0	0.608945	0	0	A	55418689	T	A	55418689	3	1	64	1	0	0	0	0	1	0	0	0	11131	1841	64	5	312	5	OR4S2	11	55418689	Missense_Mutation	SNP	T	TCGA-EJ-5531-01A-01D-1576-08	20104825	55418689	79587827	24	3333											
SLC22A10	387775	broad.mit.edu	37	chr11	63059054	63059054	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtcactgaaatcagtggttCaattcctacttctgactgga	11	13	8	9	0	4	2	3	2	1	0	5	3	5	3	1	2	1	1	1	2	3	4			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr11:63059054C>G	ENST00000332793.6	+	2	447	c.445C>G	c.(445-447)Caa>Gaa	p.Q149E	SLC22A10_ENST00000544661.1_5'UTR|SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000526800.1_Missense_Mutation_p.Q97E|SLC22A10_ENST00000525620.1_Intron	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	149						integral to membrane	transmembrane transporter activity	p.Q149E(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ATCAGTGGTTCAATTCCTACT	0.468													16	110					0	0	0.557998	0	0	G	63059054	C	G	63059054	3	3	64	1	0	0	0	0	1	0	0	0	14496	827	29	4	451	4	SLC22A10	11	63059054	Missense_Mutation	SNP	C	TCGA-EJ-5531-01A-01D-1576-08	7640365	63059054	71947462	25	3334											
ARHGAP32	9743	broad.mit.edu	37	chr11	128868319	128868319	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgttggacgagacttcaTgaatgttcgtaagaacgtaa	12	14	10	5	3	1	3	1	1	0	2	2	5	1	4	0	1	1	4	0	1	4	7			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr11:128868319T>C	ENST00000310343.9	-	11	1047	c.1048A>G	c.(1048-1050)Atg>Gtg	p.M350V	ARHGAP32_ENST00000392657.3_Start_Codon_SNP_p.M1V|ARHGAP32_ENST00000527272.1_Start_Codon_SNP_p.M1V|ARHGAP32_ENST00000524655.1_Missense_Mutation_p.M276V	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	350					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	p.M1V(2)|p.M350V(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CGAGACTTCATGAATGTTCGT	0.403													19	128					0	0	0.624587	0	0	C	128868319	T	C	128868319	3	2	64	1	0	0	0	0	1	0	0	0	878	1464	51	3	5263	3	ARHGAP32	11	128868319	Missense_Mutation	SNP	T	TCGA-EJ-5531-01A-01D-1576-08	65809265	128868319	6138197	26	3335											
NTM	50863	broad.mit.edu	37	chr11	132177693	132177693	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgtggccgcgcccgtggtaCggagagtaaaggtcaccgtg	8	6	16	11	6	1	1	1	0	0	1	1	2	1	1	3	4	1	2	3	4	3	2			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr11:132177693C>T	ENST00000374786.1	+	4	1116	c.637C>T	c.(637-639)Cgg>Tgg	p.R213W	NTM_ENST00000427481.2_Missense_Mutation_p.R204W|NTM_ENST00000374784.1_Missense_Mutation_p.R213W|NTM_ENST00000374791.3_Missense_Mutation_p.R213W|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000425719.2_Missense_Mutation_p.R213W|NTM_ENST00000539799.1_Missense_Mutation_p.R213W	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	213	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		p.R213W(2)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						GCCCGTGGTACGGAGAGTAAA	0.582													12	66					0	0	0.435327	0	0	T	132177693	C	T	132177693	3	4	64	1	0	0	0	0	1	0	0	0	10747	527	19	1	737	1	NTM	11	132177693	Missense_Mutation	SNP	C	TCGA-EJ-5531-01A-01D-1576-08	3309374	132177693	2828823	27	3336											
CSAD	51380	broad.mit.edu	37	chr12	53567192	53567192	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acaaccccaaacacggcccgGagcaaggcttccacagccac	13	2	8	18	2	0	0	0	0	0	0	1	1	1	1	5	3	4	2	5	3	3	1			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr12:53567192G>A	ENST00000267085.4	-	4	377	c.144C>T	c.(142-144)ctC>ctT	p.L48L	CSAD_ENST00000444623.1_Silent_p.L21L|CSAD_ENST00000453446.2_Silent_p.L21L|CSAD_ENST00000379843.3_Silent_p.L21L|CSAD_ENST00000491654.1_5'UTR|CSAD_ENST00000379846.1_Silent_p.L21L|CSAD_ENST00000542115.1_Silent_p.L21L	NM_001244706.1|NM_015989.4	NP_001231635.1|NP_057073.4	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	21					carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	ACACGGCCCGGAGCAAGGCTT	0.562													11	104					0	0	0.411799	0	0	A	53567192	G	A	53567192	2	1	64	1	0	0	0	0	0	0	0	1	3948	1161	41	2		2	CSAD	12	53567192	Silent	SNP	G	TCGA-EJ-5531-01A-01D-1576-08		53567192	80284703	28	3337											
ZFC3H1	196441	broad.mit.edu	37	chr12	72026778	72026778	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctttcttaattgtaacaCgctgttgaactctgtgaatc	11	15	7	8	1	2	2	0	2	2	0	3	2	2	2	0	0	3	4	0	0	5	5			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr12:72026778C>T	ENST00000378743.3	-	14	3063	c.2705G>A	c.(2704-2706)cGt>cAt	p.R902H		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	902					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						AATTGTAACACGCTGTTGAAC	0.358													5	54					0	0	0.184627	0	0	T	72026778	C	T	72026778	3	4	64	1	0	0	0	0	1	0	0	0	17691	536	19	1	3352	1	ZFC3H1	12	72026778	Missense_Mutation	SNP	C	TCGA-EJ-5531-01A-01D-1576-08	18459586	72026778	61825117	29	3338											
SSH1	54434	broad.mit.edu	37	chr12	109181845	109181845	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttggaggttgcagctgggtcCctcggggttccctggggctc	2	11	17	11	1	0	0	0	0	0	0	4	1	2	1	2	7	2	5	2	7	0	3	rs146644569		TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr12:109181845C>G	ENST00000326495.5	-	15	3162	c.3069G>C	c.(3067-3069)agG>agC	p.R1023S	SSH1_ENST00000360239.3_Missense_Mutation_p.R711S	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	1023	Interaction with YWHAG.				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R1023S(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CAGCTGGGTCCCTCGGGGTTC	0.572													28	187					0	0	0.706142	0	0	G	109181845	C	G	109181845	3	3	64	1	0	0	0	0	1	0	0	0	15240	622	22	4	84	4	SSH1	12	109181845	Missense_Mutation	SNP	C	TCGA-EJ-5531-01A-01D-1576-08	37155067	109181845	24670050	30	3339											
CLN5	1203	broad.mit.edu	37	chr13	77570129	77570129	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttttccaacttggcaactgTacatttccccatctccgacc	8	13	4	16	1	1	0	0	0	1	0	4	1	3	0	5	1	3	2	5	1	3	5			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr13:77570129T>G	ENST00000377453.3	+	3	1871	c.579T>G	c.(577-579)tgT>tgG	p.C193W	CLN5_ENST00000485938.1_3'UTR	NM_006493.2	NP_006484.1	O75503	CLN5_HUMAN	ceroid-lipofuscinosis, neuronal 5	144					brain development|cell death|lysosomal lumen acidification|neuron maturation|protein catabolic process	endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0503)		TTGGCAACTGTACATTTCCCC	0.418													8	195					0	0	0.335167	0	0	G	77570129	T	G	77570129	3	3	64	1	0	0	0	0	1	0	0	0	3567	1644	57	5	589	5	CLN5	13	77570129	Missense_Mutation	SNP	T	TCGA-EJ-5531-01A-01D-1576-08		77570129	37599749	31	3340											
GRIN2A	0	broad.mit.edu	37	chr16	9858034	9858034	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggaaaccaggctccttctCaccatctatagtgtagatct	10	12	8	11	0	3	1	1	0	3	1	5	2	4	2	3	2	1	2	3	2	4	4			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr16:9858034C>A	ENST00000396573.2	-	14	3676	c.3367G>T	c.(3367-3369)Gag>Tag	p.E1123*	GRIN2A_ENST00000562109.1_Nonsense_Mutation_p.E1123*|GRIN2A_ENST00000404927.2_Nonsense_Mutation_p.E1123*|GRIN2A_ENST00000535259.1_Nonsense_Mutation_p.E966*|GRIN2A_ENST00000396575.2_Nonsense_Mutation_p.E1123*|GRIN2A_ENST00000330684.3_Nonsense_Mutation_p.E1123*	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1123					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.E1123*(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGCTCCTTCTCACCATCTATA	0.522													18	286					2.37509e-13	2.47836e-13	0.592651	1	0	A	9858034	C	A	9858034	4	1	64	1	0	0	0	0	0	1	0	0	6820	835	29	4	1031	4	GRIN2A	16	9858034	Nonsense_Mutation	SNP	C	TCGA-EJ-5531-01A-01D-1576-08		9858034	80496719	32	3341											
ACSM2B	348158	broad.mit.edu	37	chr16	20554289	20554289	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agccgtctcaaccacagcagGgtgcttcatcagtgcattct	9	10	9	13	1	4	0	3	0	2	0	5	0	4	0	2	1	5	3	2	1	1	2			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr16:20554289G>A	ENST00000329697.6	-	12	1624	c.1456C>T	c.(1456-1458)Cct>Tct	p.P486S	ACSM2B_ENST00000565322.1_Missense_Mutation_p.P407S|ACSM2B_ENST00000567001.1_Missense_Mutation_p.P486S|ACSM2B_ENST00000565232.1_Missense_Mutation_p.P486S	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	486					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	p.P486S(2)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						ACCACAGCAGGGTGCTTCATC	0.562													13	124					0	0	0.479597	0	0	A	20554289	G	A	20554289	3	1	64	1	0	0	0	0	1	0	0	0	184	1232	43	2	289	2	ACSM2B	16	20554289	Missense_Mutation	SNP	G	TCGA-EJ-5531-01A-01D-1576-08	10696255	20554289	69800464	33	3342											
KDM6B	23135	broad.mit.edu	37	chr17	7752710	7752710	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagggtcgtgagaagtcccGgcccgatcttggcggggcct	5	7	16	13	4	1	1	0	1	1	1	3	3	2	1	4	5	0	0	4	5	1	1			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr17:7752710G>T	ENST00000254846.5	+	11	3493	c.3104G>T	c.(3103-3105)cGg>cTg	p.R1035L	KDM6B_ENST00000448097.2_Missense_Mutation_p.R1035L	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1035					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						GAGAAGTCCCGGCCCGATCTT	0.662													3	36					0.115264	0.118557	0.115264	1	0	T	7752710	G	T	7752710	3	4	64	1	0	0	0	0	1	0	0	0	8181	1116	39	4	3134	4	KDM6B	17	7752710	Missense_Mutation	SNP	G	TCGA-EJ-5531-01A-01D-1576-08		7752710	73442500	34	3343											
BLMH	642	broad.mit.edu	37	chr17	28616489	28616489	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacattcagacaagaaaagaTccagcatcgccctgaaacaa	19	5	6	11	1	1	4	1	1	0	3	3	4	2	4	2	0	3	1	2	0	6	1			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr17:28616489T>C	ENST00000261714.6	-	3	397	c.223A>G	c.(223-225)Atc>Gtc	p.I75V	BLMH_ENST00000394819.3_Intron	NM_000386.3	NP_000377.1	Q13867	BLMH_HUMAN	bleomycin hydrolase	75					proteolysis	cytoplasm|nucleus	aminopeptidase activity|carboxypeptidase activity|cysteine-type endopeptidase activity|protein binding	p.I75V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1)	13						CAAGAAAAGATCCAGCATCGC	0.383													7	48					0	0	0.27861	0	0	C	28616489	T	C	28616489	3	2	64	1	0	0	0	0	1	0	0	0	1445	1435	50	3	1184	3	BLMH	17	28616489	Missense_Mutation	SNP	T	TCGA-EJ-5531-01A-01D-1576-08	20863779	28616489	52578721	35	3344											
CCL7	6354	broad.mit.edu	37	chr17	32597376	32597376	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttcagcccccaggggcttGctcagccaggtaaggtccct	6	9	11	15	0	2	0	2	0	0	0	3	0	3	0	4	4	3	3	4	4	1	3			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr17:32597376G>A	ENST00000378569.2	+	1	137	c.67G>A	c.(67-69)Gct>Act	p.A23T	CCL7_ENST00000200307.4_Missense_Mutation_p.A33T|CCL7_ENST00000394627.1_Missense_Mutation_p.A23T|CCL7_ENST00000394630.3_Missense_Mutation_p.A23T	NM_006273.2	NP_006264.2	P80098	CCL7_HUMAN	chemokine (C-C motif) ligand 7	23					cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity|heparin binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)		BRCA - Breast invasive adenocarcinoma(366;0.155)		CCAGGGGCTTGCTCAGCCAGG	0.557													9	85					0	0	0.361761	0	0	A	32597376	G	A	32597376	3	1	64	1	0	0	0	0	1	0	0	0	2928	1319	46	2	69	2	CCL7	17	32597376	Missense_Mutation	SNP	G	TCGA-EJ-5531-01A-01D-1576-08	3980887	32597376	48597834	36	3345											
KRTAP1-3	81850	broad.mit.edu	37	chr17	39190954	39190954	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aatccgcagaagctggtctgGcagcagcttggctggcagca	9	7	14	11	1	1	1	0	0	1	1	2	1	2	1	1	4	4	8	1	4	2	1	rs71300033		TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr17:39190954G>A	ENST00000344363.5	-	1	153	c.120C>T	c.(118-120)tgC>tgT	p.C40C		NM_030966.1	NP_112228.1	Q8IUG1	KRA13_HUMAN	keratin associated protein 1-3	40						extracellular region|keratin filament	structural constituent of epidermis			cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AGCTGGTCTGGCAGCAGCTTG	0.607													8	150					0	0	0.479597	0	0	A	39190954	G	A	39190954	2	1	64	1	0	0	0	0	0	0	0	1	8546	1195	42	2		2	KRTAP1-3	17	39190954	Silent	SNP	G	TCGA-EJ-5531-01A-01D-1576-08	6593578	39190954	42004256	37	3346											
SPOP	8405	broad.mit.edu	37	chr17	47696432	47696432	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgaatttcttgaatccccAgtctttgccttgcacaaacc	10	13	6	12	0	2	2	0	2	2	0	3	3	3	2	4	0	3	1	4	0	3	4			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr17:47696432A>G	ENST00000393331.3	-	7	861	c.391T>C	c.(391-393)Tgg>Cgg	p.W131R	SPOP_ENST00000347630.2_Missense_Mutation_p.W131R|SPOP_ENST00000393328.2_Missense_Mutation_p.W131R|SPOP_ENST00000504102.1_Missense_Mutation_p.W131R|SPOP_ENST00000503676.1_Missense_Mutation_p.W131R	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	131	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.W131G(2)|p.W131R(1)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TTGAATCCCCAGTCTTTGCCT	0.458										Prostate(2;0.17)			25	212					0	0	0.729181	0	0	G	47696432	A	G	47696432	3	3	64	1	0	0	0	0	1	0	0	0	15140	188	7	3	757	3	SPOP	17	47696432	Missense_Mutation	SNP	A	TCGA-EJ-5531-01A-01D-1576-08	8505478	47696432	33498778	38	3347											
ZNF519	162655	broad.mit.edu	37	chr18	14104994	14104994	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccacattctttacatttgaaAggtttctctccagtatgaat	11	16	5	9	0	2	2	0	2	2	0	4	2	3	2	2	1	1	2	2	1	4	6			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr18:14104994A>C	ENST00000590202.1	-	3	1697	c.1545T>G	c.(1543-1545)ccT>ccG	p.P515P	ZNF519_ENST00000589203.1_Intron|ZNF519_ENST00000589498.1_Intron|RP11-411B10.3_ENST00000592926.1_RNA	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	515					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						TACATTTGAAAGGTTTCTCTC	0.373													11	142					0	0	0.38729	0	0	C	14104994	A	C	14104994	2	2	64	1	0	0	0	0	0	0	0	1	18021	59	3	5		5	ZNF519	18	14104994	Silent	SNP	A	TCGA-EJ-5531-01A-01D-1576-08		14104994	63972254	39	3348											
CCDC105	126402	broad.mit.edu	37	chr19	15121690	15121691	+	Frame_Shift_Del	DEL	CC	CC	-																															ccaggacacacgcgttggggCcccagcatggcgcgaggcag																										TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr19:15121690_15121691delCC	ENST00000292574.3	+	1	135_136	c.53_54delCC	c.(52-54)gfs	p.A18fs		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	18					microtubule cytoskeleton organization	microtubule				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						CGCGTTGGGGCCCCAGCATGGC	0.698													5	2	---	---	---	---						-	15121691	CC	-	15121690	7	5	64	1	0	1	0	1	0	0	0	0	2758	739	26	0	55	0	CCDC105	19	15121690	Frame_Shift_Del	DEL	CC	TCGA-EJ-5531-01A-01D-1576-08		15121690	44007293	40	3349											
KIR3DL1	3811	broad.mit.edu	37	chr19	55341560	55341560	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttccctctctccaggactctGatgaacaagaccctgaggag	10	9	9	13	0	2	4	0	3	2	1	5	6	4	6	3	2	1	0	3	2	2	1			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chr19:55341560G>A	ENST00000391728.4	+	9	1198	c.1165G>A	c.(1165-1167)Gat>Aat	p.D389N	KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.D294N|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.D372N|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.D372N|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.D389N	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1									p.D389N(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CCAGGACTCTGATGAACAAGA	0.527													68	361					0	0	0.870114	0	0	A	55341560	G	A	55341560	3	1	64	1	0	0	0	0	1	0	0	0	8363	1290	45	2	1199	2	KIR3DL1	19	55341560	Missense_Mutation	SNP	G	TCGA-EJ-5531-01A-01D-1576-08	40219870	55341560	3787423	41	3350											
EBP	10682	broad.mit.edu	37	chrX	48386620	48386620	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcccctcctgccacccacAggccagatctatggggatgt	7	9	9	16	0	1	1	0	0	1	1	3	2	3	2	6	3	1	0	6	3	1	2			TCGA-EJ-5531-01A-01D-1576-08	TCGA-EJ-5531-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729e845e-9b3f-47df-9400-07a81f3a5c12	85790f6e-85d7-4f6a-8784-4900d2364873	g.chrX:48386620A>T	ENST00000495186.1	+	5	1292		c.e5-1		EBP_ENST00000276096.6_Splice_Site	NM_006579.2	NP_006570.1	Q15125	EBP_HUMAN	emopamil binding protein (sterol isomerase)						cholesterol biosynthetic process|skeletal system development	endoplasmic reticulum membrane|integral to plasma membrane	cholestenol delta-isomerase activity|drug transmembrane transporter activity|steroid delta-isomerase activity|transmembrane receptor activity			NS(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|stomach(1)	11						TGCCACCCACAGGCCAGATCT	0.537													3	14					0	0	0.115264	0	0	T	48386620	A	T	48386620	5	4	64	1	0	0	0	0	0	0	1	0	4912	202	7	5	482	5	EBP	23	48386620	Splice_Site	SNP	A	TCGA-EJ-5531-01A-01D-1576-08		48386620	106883940	42	3351											
SLC9A1	6548	broad.mit.edu	37	chr1	27480528	27480528	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagatctcgaagggggtgcGcacgtgtgtgtagtcgatgc	7	9	18	7	4	1	1	0	0	1	1	3	4	1	1	0	3	2	2	0	3	2	1			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr1:27480528G>A	ENST00000263980.3	-	1	873	c.298C>T	c.(298-300)Cgc>Tgc	p.R100C	SLC9A1_ENST00000374086.3_Missense_Mutation_p.R100C|SLC9A1_ENST00000545949.1_5'UTR	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	100					regulation of pH	integral to membrane	sodium:hydrogen antiporter activity	p.R100C(1)		central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	AAGGGGGTGCGCACGTGTGTG	0.592													4	134					0	0	1	0	0	A	27480528	G	A	27480528	3	1	65	1	0	0	0	0	1	0	0	0	14764	1087	38	1	2197	1	SLC9A1	1	27480528	Missense_Mutation	SNP	G	TCGA-EJ-5532-01A-01D-1576-08		27480528	221770093	1	3352											
PUM1	9698	broad.mit.edu	37	chr1	31406163	31406163	+	Frame_Shift_Del	DEL	A	A	-																															tgcttgccataggtgtacttAcgaagagttgcgatgtgggg																										TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr1:31406163delA	ENST00000373747.3	-	22	3564	c.3465delT	c.(3463-3465)cgfs	p.R1155fs	PUM1_ENST00000423018.2_Frame_Shift_Del_p.R1010fs|PUM1_ENST00000440538.2_Frame_Shift_Del_p.R1128fs|PUM1_ENST00000373741.4_Frame_Shift_Del_p.R1190fs|PUM1_ENST00000373742.2_Frame_Shift_Del_p.R1093fs|PUM1_ENST00000426105.2_Frame_Shift_Del_p.R1154fs|PUM1_ENST00000424085.2_Frame_Shift_Del_p.R910fs|PUM1_ENST00000257075.5_Frame_Shift_Del_p.R1152fs	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	1152	PUM-HD.				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		AGGTGTACTTACGAAGAGTTG	0.532													68	165	---	---	---	---						-	31406163	A	-	31406163	7	5	65	1	0	1	0	1	0	0	0	0	12877	378	14	0	108	0	PUM1	1	31406163	Frame_Shift_Del	DEL	A	TCGA-EJ-5532-01A-01D-1576-08	3925635	31406163	217844458	2	3353											
FLG2	388698	broad.mit.edu	37	chr1	152329411	152329415	+	Frame_Shift_Del	DEL	TTGCT	TTGCT	-																															gccttccacacccacttgaaTtgctataaccacatgcatga																										TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr1:152329411_152329415delTTGCT	ENST00000388718.5	-	3	919_923	c.847_851delAGCAA	c.(847-852)tfs	p.SN283fs	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	283	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCACTTGAATTGCTATAACCACAT	0.429													78	272	---	---	---	---						-	152329415	TTGCT	-	152329411	7	5	65	1	0	1	0	1	0	0	0	0	5956	1493	52	0	6328	0	FLG2	1	152329411	Frame_Shift_Del	DEL	TTGCT	TCGA-EJ-5532-01A-01D-1576-08	120923248	152329411	96921210	3	3354											
SPTA1	6708	broad.mit.edu	37	chr1	158626393	158626393	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccgcagagctttcatactGtctccaaatgaattgagatc	11	13	7	10	1	2	3	1	2	1	2	5	4	3	3	2	0	2	2	2	0	3	4			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr1:158626393G>C	ENST00000368148.3	-	20	3039	c.2859C>G	c.(2857-2859)gaC>gaG	p.D953E	SPTA1_ENST00000368147.3_Missense_Mutation_p.D953E	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	953					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.D953E(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTTTCATACTGTCTCCAAATG	0.413													71	181					0	0	1	0	0	C	158626393	G	C	158626393	3	2	65	1	0	0	0	0	1	0	0	0	15172	1368	48	4	4532	4	SPTA1	1	158626393	Missense_Mutation	SNP	G	TCGA-EJ-5532-01A-01D-1576-08	6296982	158626393	90624228	4	3355											
ASTN1	460	broad.mit.edu	37	chr1	177001717	177001717	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagatggtggcgcagatcaGtgatgtcatactcatagccg	10	9	13	9	2	3	3	3	1	0	2	3	3	3	3	1	2	2	2	1	2	2	2			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr1:177001717G>C	ENST00000367654.2	-	3	753	c.740C>G	c.(739-741)aCt>aGt	p.T247S	ASTN1_ENST00000367657.3_Missense_Mutation_p.T247S|ASTN1_ENST00000361833.2_Missense_Mutation_p.T247S|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.T247S			O14525	ASTN1_HUMAN	astrotactin 1	247					cell migration|neuron cell-cell adhesion	integral to membrane		p.T247S(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GCGCAGATCAGTGATGTCATA	0.622													18	106					0	0	1	0	0	C	177001717	G	C	177001717	3	2	65	1	0	0	0	0	1	0	0	0	1063	1029	36	4	3232	4	ASTN1	1	177001717	Missense_Mutation	SNP	G	TCGA-EJ-5532-01A-01D-1576-08	18375324	177001717	72248904	5	3356											
USH2A	7399	broad.mit.edu	37	chr1	216371806	216371806	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttaatgcattttcattggccGattctacaaatgaatgagga	13	14	8	6	1	2	2	1	2	1	0	2	4	2	3	1	2	2	1	1	2	4	6	rs79279902		TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr1:216371806G>A	ENST00000366943.2	-	18	4318	c.3932C>T	c.(3931-3933)tCg>tTg	p.S1311L	USH2A_ENST00000366942.3_Missense_Mutation_p.S1311L|USH2A_ENST00000307340.3_Missense_Mutation_p.S1311L|RP5-1099E6.3_ENST00000420867.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1311	Fibronectin type-III 3.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.S1311L(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTCATTGGCCGATTCTACAAA	0.413										HNSCC(13;0.011)			53	121					0	0	1	0	0	A	216371806	G	A	216371806	3	1	65	1	0	0	0	0	1	0	0	0	17096	1059	37	1	11910	1	USH2A	1	216371806	Missense_Mutation	SNP	G	TCGA-EJ-5532-01A-01D-1576-08	39370089	216371806	32878815	6	3357											
FMN2	56776	broad.mit.edu	37	chr1	240371601	240371601	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttcccggagcgggcataccCccacctccccctctacccgg	5	6	8	22	3	1	0	0	0	1	0	3	1	3	1	7	3	3	1	7	3	2	3			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr1:240371601C>T	ENST00000319653.9	+	5	3719	c.3489C>T	c.(3487-3489)ccC>ccT	p.P1163P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1163	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.P1306P(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CGGGCATACCCCCACCTCCCC	0.692													2	1					0	0	1	0	0	T	240371601	C	T	240371601	2	4	65	1	0	0	0	0	0	0	0	1	5983	610	22	2		2	FMN2	1	240371601	Silent	SNP	C	TCGA-EJ-5532-01A-01D-1576-08	23999795	240371601	8879020	7	3358											
TFB2M	64216	broad.mit.edu	37	chr1	246729332	246729332	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cccacagtggttcctcgccgGcaaatgctttcgcgtcgccg	5	9	11	16	6	0	0	0	0	0	0	4	0	1	0	4	2	1	3	4	2	1	2			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr1:246729332G>A	ENST00000366514.4	-	1	294	c.109C>T	c.(109-111)Ccg>Tcg	p.P37S	TFB2M_ENST00000544618.1_Missense_Mutation_p.P37S	NM_022366.2	NP_071761.1	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial	37					positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity	p.P37S(1)		breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)			TTCCTCGCCGGCAAATGCTTT	0.627													4	101					0	0	1	0	0	A	246729332	G	A	246729332	3	1	65	1	0	0	0	0	1	0	0	0	15854	1203	42	2	1113	2	TFB2M	1	246729332	Missense_Mutation	SNP	G	TCGA-EJ-5532-01A-01D-1576-08	6357731	246729332	2521289	8	3359											
CAD	790	broad.mit.edu	37	chr2	27457443	27457443	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctctcgctccttccccttcGtttccaagacactgggtgtg	4	14	8	15	2	1	1	0	0	1	1	7	1	4	1	4	1	0	2	4	1	1	3			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr2:27457443G>A	ENST00000264705.4	+	23	3838	c.3676G>A	c.(3676-3678)Gtt>Att	p.V1226I	CAD_ENST00000403525.1_Missense_Mutation_p.V1163I	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	1226	ATP-grasp 2.|CPSase (Carbamoyl-phosphate synthase).|CPSase B.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	p.V1226I(2)		NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CTTCCCCTTCGTTTCCAAGAC	0.552													48	99					0	0	1	0	0	A	27457443	G	A	27457443	3	1	65	1	0	0	0	0	1	0	0	0	2583	1145	40	1	3766	1	CAD	2	27457443	Missense_Mutation	SNP	G	TCGA-EJ-5532-01A-01D-1576-08		27457443	215741930	9	3360											
UQCRC1	7384	broad.mit.edu	37	chr3	48638151	48638151	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacatcatgtcatcgattttCattcggtcacagacaaagtg	13	12	7	9	2	4	1	4	0	0	1	6	2	4	1	0	1	1	0	0	1	2	3			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr3:48638151C>T	ENST00000203407.5	-	9	1505	c.1089G>A	c.(1087-1089)atG>atA	p.M363I		NM_003365.2	NP_003356.2	P31930	QCR1_HUMAN	ubiquinol-cytochrome c reductase core protein I	363					aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding	p.M363I(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	Atovaquone(DB01117)	CATCGATTTTCATTCGGTCAC	0.542													14	92					0	0	1	0	0	T	48638151	C	T	48638151	3	4	65	1	0	0	0	0	1	0	0	0	17079	826	29	2	373	2	UQCRC1	3	48638151	Missense_Mutation	SNP	C	TCGA-EJ-5532-01A-01D-1576-08		48638151	149384279	10	3361											
GZMA	3001	broad.mit.edu	37	chr5	54405924	54405924	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggccttgaaaataaatgcGgagaccctcgtgggcctggt	9	10	13	9	2	0	2	0	1	0	1	1	3	0	2	3	4	1	0	3	4	4	3			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr5:54405924G>A	ENST00000274306.6	+	5	738	c.703G>A	c.(703-705)Gga>Aga	p.G235R		NM_006144.3	NP_006135.1	P12544	GRAA_HUMAN	granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3)	235	Peptidase S1.				cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis	extracellular region|immunological synapse|nucleus	protein homodimerization activity|serine-type endopeptidase activity	p.G235R(1)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	25		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				AAATAAATGCGGAGACCCTCG	0.468													35	106					0	0	1	0	0	A	54405924	G	A	54405924	3	1	65	1	0	0	0	0	1	0	0	0	6956	1117	39	1	721	1	GZMA	5	54405924	Missense_Mutation	SNP	G	TCGA-EJ-5532-01A-01D-1576-08		54405924	126509336	11	3362											
PPARGC1B	133522	broad.mit.edu	37	chr5	149212486	149212486	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccggtttcccaggaagacAtgcaggcgatggtgcaactc	9	7	12	13	2	0	1	0	0	0	1	2	3	1	2	3	4	3	3	3	4	2	1			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr5:149212486A>T	ENST00000309241.5	+	5	882	c.850A>T	c.(850-852)Atg>Ttg	p.M284L	PPARGC1B_ENST00000394320.3_Missense_Mutation_p.M284L|PPARGC1B_ENST00000360453.4_Missense_Mutation_p.M245L|PPARGC1B_ENST00000403750.1_Missense_Mutation_p.M220L	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	284					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity	p.M284L(2)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CCAGGAAGACATGCAGGCGAT	0.672													31	87					0	0	1	0	0	T	149212486	A	T	149212486	3	4	65	1	0	0	0	0	1	0	0	0	12346	217	8	5	875	5	PPARGC1B	5	149212486	Missense_Mutation	SNP	A	TCGA-EJ-5532-01A-01D-1576-08	94806562	149212486	31702774	12	3363											
SLC26A2	1836	broad.mit.edu	37	chr5	149360521	149360521	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaggctgccatactcagctTtctggtgtggtaacagccct	8	11	10	12	0	2	0	1	0	1	0	2	0	2	0	2	3	5	3	2	3	2	3			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr5:149360521T>A	ENST00000286298.4	+	3	1633	c.1365T>A	c.(1363-1365)ctT>ctA	p.L455L		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	455						integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity	p.L455L(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			ATACTCAGCTTTCTGGTGTGG	0.418													39	92					0	0	1	0	0	A	149360521	T	A	149360521	2	1	65	1	0	0	0	0	0	0	0	1	14572	1828	64	5		5	SLC26A2	5	149360521	Silent	SNP	T	TCGA-EJ-5532-01A-01D-1576-08	148035	149360521	31554739	13	3364											
GABRB2	0	broad.mit.edu	37	chr5	160886675	160886675	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggatgcaggcgaatcatgCggttcttaacagtcactccg	10	9	11	11	3	3	0	2	0	1	0	4	2	4	1	1	3	3	2	1	3	2	2			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr5:160886675C>T	ENST00000274547.2	-	5	630	c.413G>A	c.(412-414)cGc>cAc	p.R138H	GABRB2_ENST00000517901.1_Missense_Mutation_p.R75H|GABRB2_ENST00000517547.1_Intron|GABRB2_ENST00000393959.1_Missense_Mutation_p.R138H|GABRB2_ENST00000520240.1_Missense_Mutation_p.R138H|GABRB2_ENST00000353437.6_Missense_Mutation_p.R138H	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	138					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GCGAATCATGCGGTTCTTAAC	0.448													3	46					0	0	1	0	0	T	160886675	C	T	160886675	3	4	65	1	0	0	0	0	1	0	0	0	6202	768	27	1	1153	1	GABRB2	5	160886675	Missense_Mutation	SNP	C	TCGA-EJ-5532-01A-01D-1576-08	11526154	160886675	20028585	14	3365											
NKAPL	222698	broad.mit.edu	37	chr6	28227527	28227527	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggaggctgaaggagagagaGaggattggggaattgggagc	13	5	21	2	0	0	3	0	1	0	2	0	10	0	8	0	7	1	1	0	7	2	2			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr6:28227527G>A	ENST00000343684.3	+	1	430	c.378G>A	c.(376-378)gaG>gaA	p.E126E		NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	126								p.E126E(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						AGGAGAGAGAGAGGATTGGGG	0.542													38	73					0	0	1	0	0	A	28227527	G	A	28227527	2	1	65	1	0	0	0	0	0	0	0	1	10487	933	33	2		2	NKAPL	6	28227527	Silent	SNP	G	TCGA-EJ-5532-01A-01D-1576-08		28227527	142887540	15	3366											
MAS1L	116511	broad.mit.edu	37	chr6	29454710	29454710	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctgagagattccttcagccTtttctttctgaggctcccca	6	15	7	13	0	4	3	1	2	3	1	6	4	6	3	4	1	1	1	4	1	0	5			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr6:29454710T>C	ENST00000377127.3	-	1	1028	c.970A>G	c.(970-972)Agg>Ggg	p.R324G		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 oncogene-like	324						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity	p.R324G(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						TCCTTCAGCCTTTTCTTTCTG	0.463													5	220					0	0	1	0	0	C	29454710	T	C	29454710	3	2	65	1	0	0	0	0	1	0	0	0	9371	1608	56	3	168	3	MAS1L	6	29454710	Missense_Mutation	SNP	T	TCGA-EJ-5532-01A-01D-1576-08	1227183	29454710	141660357	16	3367											
WNT2	7472	broad.mit.edu	37	chr7	116937778	116937778	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgaaacctgtgccatcctgGttcatgaccacctggatggc	8	10	11	12	0	1	2	1	2	0	0	2	3	2	3	5	3	2	1	5	3	1	1			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr7:116937778G>C	ENST00000265441.3	-	4	1040	c.741C>G	c.(739-741)aaC>aaG	p.N247K		NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	247					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity	p.N247K(1)		breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		TGCCATCCTGGTTCATGACCA	0.498													61	120					0	0	1	0	0	C	116937778	G	C	116937778	3	2	65	1	0	0	0	0	1	0	0	0	17446	1252	44	4	349	4	WNT2	7	116937778	Missense_Mutation	SNP	G	TCGA-EJ-5532-01A-01D-1576-08		116937778	42200885	17	3368											
C10orf71	118461	broad.mit.edu	37	chr10	50531524	50531524	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actatggggacacgaccttgCtaagagaaccctgtcctcct	10	9	9	13	1	0	1	0	0	0	1	2	4	2	2	4	2	2	1	4	2	3	3			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr10:50531524C>A	ENST00000374144.3	+	3	1222	c.934C>A	c.(934-936)Cta>Ata	p.L312I	C10orf71_ENST00000323868.4_Missense_Mutation_p.L312I			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	312								p.L312I(2)		endometrium(1)	1						CACGACCTTGCTAAGAGAACC	0.577													3	65					0.115264	0.115264	1	1	0	A	50531524	C	A	50531524	3	1	65	1	0	0	0	0	1	0	0	0	1618	796	28	4	936	4	C10orf71	10	50531524	Missense_Mutation	SNP	C	TCGA-EJ-5532-01A-01D-1576-08		50531524	85003223	18	3369											
TACC2	10579	broad.mit.edu	37	chr10	123954657	123954657	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgaagtcatcccagaaccCgaggtcagcacacagccacc	12	3	8	18	2	2	1	2	0	0	1	3	3	3	1	5	1	3	1	5	1	2	0	rs138045107	byFrequency	TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr10:123954657C>T	ENST00000369005.1	+	8	6277	c.5937C>T	c.(5935-5937)ccC>ccT	p.P1979P	TACC2_ENST00000260733.3_Silent_p.P57P|TACC2_ENST00000513429.1_Silent_p.P125P|TACC2_ENST00000334433.3_Silent_p.P1979P|TACC2_ENST00000453444.2_Silent_p.P1983P|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000515273.1_Silent_p.P1983P|TACC2_ENST00000493951.1_3'UTR|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000515603.1_Silent_p.P1934P|TACC2_ENST00000368999.1_Silent_p.P57P|TACC2_ENST00000360561.3_Silent_p.P57P|TACC2_ENST00000369004.3_Silent_p.P57P|TACC2_ENST00000358010.1_Silent_p.P125P	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1979	Pro-rich.					microtubule organizing center|nucleus	nuclear hormone receptor binding	p.P1979P(2)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TCCCAGAACCCGAGGTCAGCA	0.622													26	53					0	0	1	0	0	T	123954657	C	T	123954657	2	4	65	1	0	0	0	0	0	0	0	1	15559	639	23	1		1	TACC2	10	123954657	Silent	SNP	C	TCGA-EJ-5532-01A-01D-1576-08	73423133	123954657	11580090	19	3370											
DMBT1	1755	broad.mit.edu	37	chr10	124358388	124358388	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctcctggggcaccgtgtgcGatgacagctgggacaccaat	8	7	14	12	2	0	1	0	1	0	0	1	3	1	2	3	3	2	3	3	3	1	0			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr10:124358388G>A	ENST00000368909.3	+	26	3161	c.3055G>A	c.(3055-3057)Gat>Aat	p.D1019N	DMBT1_ENST00000344338.3_Missense_Mutation_p.D1009N|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368955.3_Missense_Mutation_p.D1009N|DMBT1_ENST00000330163.4_Missense_Mutation_p.D520N|DMBT1_ENST00000338354.3_Missense_Mutation_p.D1019N|DMBT1_ENST00000368956.2_Missense_Mutation_p.D520N	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1019	SRCR 8.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	p.D1019N(3)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CACCGTGTGCGATGACAGCTG	0.602													219	349					0	0	1	0	0	A	124358388	G	A	124358388	3	1	65	1	0	0	0	0	1	0	0	0	4605	1058	37	1	3157	1	DMBT1	10	124358388	Missense_Mutation	SNP	G	TCGA-EJ-5532-01A-01D-1576-08	403731	124358388	11176359	20	3371											
FOLH1	2346	broad.mit.edu	37	chr11	49168464	49168464	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggaatgactcccctgcataCttgttgtggctgcttggagc	6	12	13	10	0	0	1	0	1	0	0	1	3	1	3	2	3	4	4	2	3	2	4			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr11:49168464C>G	ENST00000340334.7	-	20	2420	c.2052G>C	c.(2050-2052)aaG>aaC	p.K684N	FOLH1_ENST00000256999.2_Missense_Mutation_p.K699N|FOLH1_ENST00000343844.4_Missense_Mutation_p.K391N|FOLH1_ENST00000533034.1_Missense_Mutation_p.K653N|FOLH1_ENST00000356696.3_Missense_Mutation_p.K668N	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	699					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	CCCCTGCATACTTGTTGTGGC	0.428													4	205					0	0	1	0	0	G	49168464	C	G	49168464	3	3	65	1	0	0	0	0	1	0	0	0	6012	564	20	4	159	4	FOLH1	11	49168464	Missense_Mutation	SNP	C	TCGA-EJ-5532-01A-01D-1576-08		49168464	85838052	21	3372											
OR4C13	283092	broad.mit.edu	37	chr11	49974537	49974537	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgatcaatcttgcctgcaCtaatacccacactctaggac	11	12	5	13	0	3	1	1	1	2	0	3	2	3	2	2	1	3	1	2	1	4	5			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr11:49974537C>T	ENST00000555099.1	+	1	595	c.563C>T	c.(562-564)aCt>aTt	p.T188I		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	188					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T188I(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						CTTGCCTGCACTAATACCCAC	0.438													73	202					0	0	1	0	0	T	49974537	C	T	49974537	3	4	65	1	0	0	0	0	1	0	0	0	11095	565	20	2	565	2	OR4C13	11	49974537	Missense_Mutation	SNP	C	TCGA-EJ-5532-01A-01D-1576-08	806073	49974537	85031979	22	3373											
MYO7A	4647	broad.mit.edu	37	chr11	76868351	76868351	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgaaaggaactaccacgtGttctactgcatgctggaggg	11	9	13	8	1	1	1	0	1	1	0	1	4	1	3	1	3	5	3	1	3	4	3			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr11:76868351G>A	ENST00000409709.3	+	8	1034	c.762G>A	c.(760-762)gtG>gtA	p.V254V	MYO7A_ENST00000458637.2_Silent_p.V254V|MYO7A_ENST00000409893.1_Silent_p.V254V|MYO7A_ENST00000409619.2_Silent_p.V243V	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	254	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.V254V(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						ACTACCACGTGTTCTACTGCA	0.582													11	14					0	0	1	0	0	A	76868351	G	A	76868351	2	1	65	1	0	0	0	0	0	0	0	1	10130	1364	48	2		2	MYO7A	11	76868351	Silent	SNP	G	TCGA-EJ-5532-01A-01D-1576-08	26893814	76868351	58138165	23	3374											
CACNA2D4	93589	broad.mit.edu	37	chr12	1988135	1988135	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcaccttgtaccggggcGccagcttcatcagctctctc	5	10	10	16	2	4	0	3	0	1	0	6	0	4	0	3	3	3	4	3	3	1	3			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr12:1988135G>A	ENST00000382722.5	-	15	1993	c.1631C>T	c.(1630-1632)gCg>gTg	p.A544V	CACNA2D4_ENST00000588077.1_Missense_Mutation_p.A480V|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.A480V|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.A429V|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.A544V|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.A544V	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	544	Cache.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.A544V(2)		endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GTACCGGGGCGCCAGCTTCAT	0.622													8	24					0	0	1	0	0	A	1988135	G	A	1988135	3	1	65	1	0	0	0	0	1	0	0	0	2569	1087	38	1	1878	1	CACNA2D4	12	1988135	Missense_Mutation	SNP	G	TCGA-EJ-5532-01A-01D-1576-08		1988135	131863760	24	3375											
VWF	7450	broad.mit.edu	37	chr12	6172165	6172165	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccagtccatctgcaggtcCtccccgtagctgaggcgcac	6	8	10	17	2	1	1	0	1	1	0	5	1	5	1	5	2	2	4	5	2	1	1			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr12:6172165C>T	ENST00000261405.5	-	13	1742	c.1488G>A	c.(1486-1488)gaG>gaA	p.E496E		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	496	VWFD 2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	p.E496E(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TCTGCAGGTCCTCCCCGTAGC	0.657											OREG0021618	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	21					0	0	1	0	0	T	6172165	C	T	6172165	2	4	65	1	0	0	0	0	0	0	0	1	17306	680	24	2		2	VWF	12	6172165	Silent	SNP	C	TCGA-EJ-5532-01A-01D-1576-08	4184030	6172165	127679730	25	3376											
NAA25	80018	broad.mit.edu	37	chr12	112516059	112516059	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaacgttccaggatcatataAtaaagttcaaccttacagaa	18	10	5	8	1	2	1	2	0	0	1	3	2	3	2	2	1	3	2	2	1	8	6			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr12:112516059A>G	ENST00000261745.4	-	7	845	c.597T>C	c.(595-597)taT>taC	p.Y199Y		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	199						cytoplasm	protein binding	p.Y199Y(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						GGATCATATAATAAAGTTCAA	0.299													7	163					0	0	1	0	0	G	112516059	A	G	112516059	2	3	65	1	0	0	0	0	0	0	0	1	10169	108	4	3		3	NAA25	12	112516059	Silent	SNP	A	TCGA-EJ-5532-01A-01D-1576-08	106343894	112516059	21335836	26	3377											
MTUS2	23281	broad.mit.edu	37	chr13	29600584	29600584	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgcacgcttgttgaacacGtcccccaaagtgcctgacaa	11	8	9	13	2	0	2	0	2	0	0	1	2	1	2	3	0	3	3	3	0	3	2			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr13:29600584G>A	ENST00000431530.3	+	1	1837	c.1779G>A	c.(1777-1779)acG>acA	p.T593T		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	583						cytoplasm|microtubule	microtubule binding|protein homodimerization activity	p.T593T(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TGTTGAACACGTCCCCCAAAG	0.552													22	68					0	0	1	0	0	A	29600584	G	A	29600584	2	1	65	1	0	0	0	0	0	0	0	1	10014	1132	40	1		1	MTUS2	13	29600584	Silent	SNP	G	TCGA-EJ-5532-01A-01D-1576-08		29600584	85569294	27	3378											
FBN1	2200	broad.mit.edu	37	chr15	48736776	48736776	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagactgtatccaggtgggCaaatgcatctgtaggaccca	12	8	12	9	0	1	1	0	0	1	1	2	3	2	2	2	3	1	4	2	3	4	2			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr15:48736776C>A	ENST00000316623.5	-	49	6454	c.5999G>T	c.(5998-6000)tGc>tTc	p.C2000F		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	2000	EGF-like 34; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	p.C2000F(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TCCAGGTGGGCAAATGCATCT	0.433													58	118					6.3237e-29	6.72734e-29	1	1	0	A	48736776	C	A	48736776	3	1	65	1	0	0	0	0	1	0	0	0	5735	710	25	4	2688	4	FBN1	15	48736776	Missense_Mutation	SNP	C	TCGA-EJ-5532-01A-01D-1576-08		48736776	53794616	28	3379											
DMXL2	23312	broad.mit.edu	37	chr15	51855614	51855614	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaatattcaccatcaggagaCcattccatcaaatgtacaga	17	9	5	10	0	3	2	3	0	0	2	4	3	4	2	3	1	1	1	3	1	4	4			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr15:51855614C>T	ENST00000251076.5	-	6	818	c.531G>A	c.(529-531)tgG>tgA	p.W177*	DMXL2_ENST00000543779.2_Nonsense_Mutation_p.W177*|DMXL2_ENST00000560421.1_5'UTR|DMXL2_ENST00000449909.3_Nonsense_Mutation_p.W177*	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	177						cell junction|synaptic vesicle membrane	Rab GTPase binding	p.W177*(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CATCAGGAGACCATTCCATCA	0.308													3	72					0	0	1	0	0	T	51855614	C	T	51855614	4	4	65	1	0	0	0	0	0	1	0	0	4623	508	18	2	8734	2	DMXL2	15	51855614	Nonsense_Mutation	SNP	C	TCGA-EJ-5532-01A-01D-1576-08	3118838	51855614	50675778	29	3380											
SNX29	92017	broad.mit.edu	37	chr16	12136839	12136839	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgccacatcgcctcagaCgtgggccggggtcgcgcctg	4	6	15	16	6	1	1	1	0	0	1	3	1	1	1	4	3	1	0	4	3	0	0			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr16:12136839C>T	ENST00000566228.1	+	5	402	c.333C>T	c.(331-333)gaC>gaT	p.D111D	SNX29_ENST00000568359.1_3'UTR	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	0					cell communication		phosphatidylinositol binding	p.D111D(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						TCGCCTCAGACGTGGGCCGGG	0.652													3	34					0	0	1	0	0	T	12136839	C	T	12136839	2	4	65	1	0	0	0	0	0	0	0	1	14952	535	19	1		1	SNX29	16	12136839	Silent	SNP	C	TCGA-EJ-5532-01A-01D-1576-08		12136839	78217914	30	3381											
CCDC144A	9720	broad.mit.edu	37	chr17	16612678	16612678	+	Frame_Shift_Del	DEL	T	T	-																															agcaaggaacccagaagtggTtatggttgaaatgaaagaag																										TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr17:16612678delT	ENST00000443444.2	+	5	1447	c.1307delT	c.(1306-1308)gtfs	p.V436fs	CCDC144A_ENST00000456009.1_Intron|RP11-219A15.1_ENST00000448331.3_Frame_Shift_Del_p.V436fs|CCDC144A_ENST00000340621.5_Frame_Shift_Del_p.V435fs|CCDC144A_ENST00000399273.1_Frame_Shift_Del_p.V436fs|CCDC144A_ENST00000360524.8_Frame_Shift_Del_p.V436fs			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	436																	CCAGAAGTGGTTATGGTTGAA	0.353													27	47	---	---	---	---						-	16612678	T	-	16612678	7	5	65	1	0	1	0	1	0	0	0	0	2795	1725	60	0	1325	0	CCDC144A	17	16612678	Frame_Shift_Del	DEL	T	TCGA-EJ-5532-01A-01D-1576-08		16612678	64582532	31	3382											
USP22	23326	broad.mit.edu	37	chr17	20910262	20910262	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggggaaggacacatacgtGgtgatcttccgccgcagctt	9	8	14	10	3	1	1	0	1	1	0	2	3	2	3	2	4	2	2	2	4	2	3			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr17:20910262G>A	ENST00000261497.4	-	10	1472	c.1269C>T	c.(1267-1269)acC>acT	p.T423T	USP22_ENST00000455117.2_Intron|USP22_ENST00000537526.2_Silent_p.T411T	NM_015276.1	NP_056091.1	Q9UPT9	UBP22_HUMAN	ubiquitin specific peptidase 22	423					cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.T645T(1)		endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						ACACATACGTGGTGATCTTCC	0.547													4	25					0	0	1	0	0	A	20910262	G	A	20910262	2	1	65	1	0	0	0	0	0	0	0	1	17114	1335	47	2		2	USP22	17	20910262	Silent	SNP	G	TCGA-EJ-5532-01A-01D-1576-08	4297584	20910262	60284948	32	3383											
ST6GALNAC2	10610	broad.mit.edu	37	chr17	74562331	74562331	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatttccagtagttgcttGtgatgaatccataggcactg	12	13	9	7	0	0	2	0	2	0	0	2	2	2	2	2	1	1	4	2	1	5	5			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr17:74562331G>A	ENST00000225276.5	-	9	1299	c.980C>T	c.(979-981)aCa>aTa	p.T327I		NM_006456.2	NP_006447.2	Q9UJ37	SIA7B_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2	327					protein glycosylation	integral to Golgi membrane	sialyltransferase activity	p.T327I(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						GTAGTTGCTTGTGATGAATCC	0.448													78	155					0	0	1	0	0	A	74562331	G	A	74562331	3	1	65	1	0	0	0	0	1	0	0	0	15280	1377	48	2	148	2	ST6GALNAC2	17	74562331	Missense_Mutation	SNP	G	TCGA-EJ-5532-01A-01D-1576-08	53652069	74562331	6632879	33	3384											
MYO1F	4542	broad.mit.edu	37	chr19	8604860	8604860	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagccggcggtgctggggcGccccttcttgtctccatcca	3	9	14	15	3	2	0	0	0	2	0	4	1	3	1	5	5	2	1	5	5	0	2			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr19:8604860G>A	ENST00000338257.8	-	16	1930	c.1663C>T	c.(1663-1665)Cgc>Tgc	p.R555C		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	555	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.R555C(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GTGCTGGGGCGCCCCTTCTTG	0.637													20	46					0	0	1	0	0	A	8604860	G	A	8604860	3	1	65	1	0	0	0	0	1	0	0	0	10121	1087	38	1	1685	1	MYO1F	19	8604860	Missense_Mutation	SNP	G	TCGA-EJ-5532-01A-01D-1576-08		8604860	50524123	34	3385											
SIGLEC12	89858	broad.mit.edu	37	chr19	52003566	52003566	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgggacgctgtggagaaaCgagggtcagcccagccccca	9	4	14	14	2	1	1	1	0	0	1	1	4	1	2	4	3	3	1	4	3	1	0			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr19:52003566C>T	ENST00000598614.1	-	1	61	c.62G>A	c.(61-63)cGt>cAt	p.R21H	SIGLEC12_ENST00000291707.3_Intron	NM_033329.1	NP_201586.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	0	Ig-like V-type 1.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TGTGGAGAAACGAGGGTCAGC	0.607													16	38					0	0	1	0	0	T	52003566	C	T	52003566	3	4	65	1	0	0	0	0	1	0	0	0	14363	536	19	1	1399	1	SIGLEC12	19	52003566	Missense_Mutation	SNP	C	TCGA-EJ-5532-01A-01D-1576-08	43398706	52003566	7125417	35	3386											
LILRB1	0	broad.mit.edu	37	chr19	55148263	55148263	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacgggaggcaactgagccTcctccatcccaggaagggcc	10	4	13	14	1	0	2	0	1	0	1	3	4	3	4	5	4	2	1	5	4	2	0			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chr19:55148263T>G	ENST00000396331.1	+	16	2244	c.1887T>G	c.(1885-1887)ccT>ccG	p.P629P	LILRB1_ENST00000448689.1_3'UTR|AC009892.10_ENST00000456337.1_Intron|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396317.1_Silent_p.P613P|LILRB1_ENST00000418536.2_Silent_p.P613P|LILRB1_ENST00000427581.2_Silent_p.P680P|LILRB1_ENST00000396332.4_Silent_p.P630P|LILRB1_ENST00000396321.2_Silent_p.P629P|LILRB1_ENST00000396327.3_Silent_p.P630P|LILRB1_ENST00000396315.1_Silent_p.P631P|LILRB1_ENST00000324602.7_Silent_p.P631P|LILRB1_ENST00000434867.2_Silent_p.P629P	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	629					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CAACTGAGCCTCCTCCATCCC	0.652										HNSCC(37;0.09)			4	65					0	0	1	0	0	G	55148263	T	G	55148263	2	3	65	1	0	0	0	0	0	0	0	1	8830	1538	54	5		5	LILRB1	19	55148263	Silent	SNP	T	TCGA-EJ-5532-01A-01D-1576-08	3144697	55148263	3980720	36	3387											
STS	412	broad.mit.edu	37	chrX	7223203	7223203	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaggagaaattcatggcGgaagtaatgggatctataaa	17	8	11	5	1	2	1	1	0	1	1	2	4	2	3	1	4	0	1	1	4	7	4			TCGA-EJ-5532-01A-01D-1576-08	TCGA-EJ-5532-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64b492d0-73c0-4de0-bad1-5ef62275b035	d441d979-16c2-4638-a963-550f1bffd4e8	g.chrX:7223203G>A	ENST00000217961.4	+	7	1295	c.1075G>A	c.(1075-1077)Gga>Aga	p.G359R		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	359					female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity	p.G359R(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)	AATTCATGGCGGAAGTAATGG	0.458									Ichthyosis				3	70					0	0	1	0	0	A	7223203	G	A	7223203	3	1	65	1	0	0	0	0	1	0	0	0	15388	1117	39	1	1101	1	STS	23	7223203	Missense_Mutation	SNP	G	TCGA-EJ-5532-01A-01D-1576-08		7223203	148047357	37	3388											
PRAMEF7	441871	broad.mit.edu	37	chr1	12979764	12979764	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttggtgcccgagcatccGtcaattaaaggagctggacc	9	9	11	12	2	2	0	1	0	1	0	3	3	3	2	3	3	3	2	3	3	3	2			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr1:12979764G>A	ENST00000361079.2	+	4	1039	c.956G>A	c.(955-957)cGt>cAt	p.R319H						PRAME family member 7									p.R319H(2)		endometrium(2)|kidney(5)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	18	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCGAGCATCCGTCAATTAAAG	0.587													18	213					0	0	0.654019	0	0	A	12979764	G	A	12979764	3	1	66	1	0	0	0	0	1	0	0	0	12490	1145	40	1	966	1	PRAMEF7	1	12979764	Missense_Mutation	SNP	G	TCGA-EJ-5542-01A-01D-1576-08		12979764	236270857	1	3389											
FBLIM1	54751	broad.mit.edu	37	chr1	16091554	16091554	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccgcgccgcgatgtggccGtggcggaggaagtgaggcag	6	4	19	12	6	0	1	0	1	0	0	0	4	0	3	4	5	0	1	4	5	1	0			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr1:16091554G>C	ENST00000375766.3	+	3	716	c.76G>C	c.(76-78)Gtg>Ctg	p.V26L	FBLIM1_ENST00000332305.5_Missense_Mutation_p.V26L|FBLIM1_ENST00000441801.2_Missense_Mutation_p.V26L|FBLIM1_ENST00000400773.1_Missense_Mutation_p.V26L|FBLIM1_ENST00000375771.1_Missense_Mutation_p.V26L	NM_017556.2	NP_060026.2	Q8WUP2	FBLI1_HUMAN	filamin binding LIM protein 1	26	Filamin-binding.				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding	p.V26L(1)		large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		CGATGTGGCCGTGGCGGAGGA	0.672													36	103					0	0	0.812448	0	0	C	16091554	G	C	16091554	3	2	66	1	0	0	0	0	1	0	0	0	5730	1145	40	4	78	4	FBLIM1	1	16091554	Missense_Mutation	SNP	G	TCGA-EJ-5542-01A-01D-1576-08	3111790	16091554	233159067	2	3390											
ZMYND12	84217	broad.mit.edu	37	chr1	42898890	42898890	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttttttggggggctttgTcagatgtagattctcgaatg	6	17	14	4	1	2	2	1	0	1	2	3	3	2	2	0	4	0	3	0	4	2	6			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr1:42898890T>G	ENST00000372565.3	-	7	1168	c.899A>C	c.(898-900)gAc>gCc	p.D300A	ZMYND12_ENST00000433602.2_Missense_Mutation_p.D190A|ZMYND12_ENST00000475426.1_5'UTR	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	300						intracellular	zinc ion binding	p.D300A(1)		NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGGGGCTTTGTCAGATGTAGA	0.408													33	452					0	0	0.760397	0	0	G	42898890	T	G	42898890	3	3	66	1	0	0	0	0	1	0	0	0	17765	1667	58	5	206	5	ZMYND12	1	42898890	Missense_Mutation	SNP	T	TCGA-EJ-5542-01A-01D-1576-08	26807336	42898890	206351731	3	3391											
MCL1	4170	broad.mit.edu	37	chr1	150551355	150551355	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtggttgcgctgcacgccatCcccaacccgtcgtaaggtct	6	9	11	15	4	1	0	0	0	1	0	3	0	2	0	4	2	3	4	4	2	2	2			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr1:150551355C>T	ENST00000369026.2	-	1	711	c.652G>A	c.(652-654)Gat>Aat	p.D218N	MCL1_ENST00000307940.3_Missense_Mutation_p.D218N	NM_001197320.1|NM_021960.4	NP_001184249.1|NP_068779.1	Q07820	MCL1_HUMAN	myeloid cell leukemia sequence 1 (BCL2-related)	218					anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nucleoplasm	BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity	p.D218N(1)		endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			TGCACGCCATCCCCAACCCGT	0.622													34	92					0	0	0.779181	0	0	T	150551355	C	T	150551355	3	4	66	1	0	0	0	0	1	0	0	0	9434	855	30	2	423	2	MCL1	1	150551355	Missense_Mutation	SNP	C	TCGA-EJ-5542-01A-01D-1576-08	107652465	150551355	98699266	4	3392											
SELENBP1	8991	broad.mit.edu	37	chr1	151341656	151341656	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggttgggcatgggcagccGgtggatgacctaggatgcgg	7	7	19	8	2	0	1	0	1	0	0	0	3	0	3	2	7	2	3	2	7	1	2			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr1:151341656G>A	ENST00000426705.2	-	4	454	c.310C>T	c.(310-312)Cgg>Tgg	p.R104W	SELENBP1_ENST00000368868.5_Missense_Mutation_p.R62W|SELENBP1_ENST00000435071.1_5'UTR|SELENBP1_ENST00000447402.3_Intron|SELENBP1_ENST00000473693.1_5'UTR	NM_001258289.1	NP_001245218.1	Q13228	SBP1_HUMAN	selenium binding protein 1	62					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding	p.R62W(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ATGGGCAGCCGGTGGATGACC	0.602													4	115					0	0	0.150653	0	0	A	151341656	G	A	151341656	3	1	66	1	0	0	0	0	1	0	0	0	14068	1115	39	1	1270	1	SELENBP1	1	151341656	Missense_Mutation	SNP	G	TCGA-EJ-5542-01A-01D-1576-08	790301	151341656	97908965	5	3393											
RAB3GAP2	25782	broad.mit.edu	37	chr1	220364491	220364491	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctaaaattccccttcttggcGcatagatcacaaggaattga	13	11	7	10	1	2	2	1	1	1	1	3	3	3	3	2	2	0	1	2	2	5	6	rs151225064		TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr1:220364491G>A	ENST00000358951.2	-	14	1522	c.1406C>T	c.(1405-1407)gCg>gTg	p.A469V		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	469					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity	p.A469V(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		CCTTCTTGGCGCATAGATCAC	0.493													5	234					0	0	0.217242	0	0	A	220364491	G	A	220364491	3	1	66	1	0	0	0	0	1	0	0	0	12988	1087	38	1	2863	1	RAB3GAP2	1	220364491	Missense_Mutation	SNP	G	TCGA-EJ-5542-01A-01D-1576-08	69022835	220364491	28886130	6	3394											
RYR2	6262	broad.mit.edu	37	chr1	237754089	237754089	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttctccaagacggtggcTggagggctccctggggctgg	4	9	17	11	1	2	1	0	0	2	1	4	2	3	2	2	7	0	3	2	7	1	1			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr1:237754089T>A	ENST00000366574.2	+	31	4274	c.3957T>A	c.(3955-3957)gcT>gcA	p.A1319A	RYR2_ENST00000360064.6_Silent_p.A1317A|RYR2_ENST00000542537.1_Silent_p.A1303A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1319	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGACGGTGGCTGGAGGGCTCC	0.512													4	221					0	0	0.184627	0	0	A	237754089	T	A	237754089	2	1	66	1	0	0	0	0	0	0	0	1	13821	1567	55	5		5	RYR2	1	237754089	Silent	SNP	T	TCGA-EJ-5542-01A-01D-1576-08	17389598	237754089	11496532	7	3395											
FMN2	56776	broad.mit.edu	37	chr1	240370947	240370947	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcgggaatacctcctccGccccctctacccggagcggc	6	5	12	18	4	1	0	0	0	1	0	3	3	3	3	6	4	4	0	6	4	3	2	rs6143701		TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr1:240370947G>A	ENST00000319653.9	+	5	3065	c.2835G>A	c.(2833-2835)ccG>ccA	p.P945P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	945	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TACCTCCTCCGCCCCCTCTAC	0.692													4	72					0	0	0.150653	0	0	A	240370947	G	A	240370947	2	1	66	1	0	0	0	0	0	0	0	1	5983	1074	38	1		1	FMN2	1	240370947	Silent	SNP	G	TCGA-EJ-5542-01A-01D-1576-08	2616858	240370947	8879674	8	3396											
HEATR5B	54497	broad.mit.edu	37	chr2	37283622	37283622	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaggaaacactacaccaaaaAgggccacagaagcatcaatg	19	3	9	10	0	1	1	1	0	0	1	1	3	1	2	2	2	3	1	2	2	6	1			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr2:37283622A>G	ENST00000233099.5	-	16	2455	c.2360T>C	c.(2359-2361)cTt>cCt	p.L787P	HEATR5B_ENST00000354531.2_Missense_Mutation_p.L787P	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	787							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TACACCAAAAAGGGCCACAGA	0.393													3	175					0	0	0.150653	0	0	G	37283622	A	G	37283622	3	3	66	1	0	0	0	0	1	0	0	0	7073	72	3	3	3939	3	HEATR5B	2	37283622	Missense_Mutation	SNP	A	TCGA-EJ-5542-01A-01D-1576-08		37283622	205915751	9	3397											
VWA3B	200403	broad.mit.edu	37	chr2	98853086	98853086	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagacctatggcttggtcGccaagaaactcaccctcatg	11	9	9	12	1	2	3	2	1	0	2	3	3	2	3	3	2	1	1	3	2	4	2			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr2:98853086G>A	ENST00000477737.1	+	19	2770	c.2566G>A	c.(2566-2568)Gcc>Acc	p.A856T		NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	856								p.A856T(1)		NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGGCTTGGTCGCCAAGAAACT	0.478													4	108					0	0	0.150653	0	0	A	98853086	G	A	98853086	3	1	66	1	0	0	0	0	1	0	0	0	17301	1087	38	1	2636	1	VWA3B	2	98853086	Missense_Mutation	SNP	G	TCGA-EJ-5542-01A-01D-1576-08	61569464	98853086	144346287	10	3398											
CCDC74A	90557	broad.mit.edu	37	chr2	132290465	132290465	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctcaagtccctcctggaagGgagccagaggccccaggcag	9	4	13	15	0	1	1	1	0	0	1	3	3	3	3	6	4	1	1	6	4	2	0	rs149945224		TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr2:132290465G>T	ENST00000295171.6	+	6	1043	c.905G>T	c.(904-906)gGg>gTg	p.G302V	CCDC74A_ENST00000409856.3_Missense_Mutation_p.G236V|CCDC74A_ENST00000467992.2_3'UTR	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	302			G -> R (in dbSNP:rs13660).					p.G302V(1)		endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						CTCCTGGAAGGGAGCCAGAGG	0.692													11	110					3.07112e-06	3.71284e-06	0.38729	1	0	T	132290465	G	T	132290465	3	4	66	1	0	0	0	0	1	0	0	0	2867	1232	43	4	927	4	CCDC74A	2	132290465	Missense_Mutation	SNP	G	TCGA-EJ-5542-01A-01D-1576-08	33437379	132290465	110908908	11	3399											
NEB	4703	broad.mit.edu	37	chr2	152512437	152512437	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggcggtatttctgatcactgGcatattcagttgctttcttg	6	17	10	8	1	4	1	2	1	2	0	4	1	4	1	0	3	1	4	0	3	2	7			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr2:152512437G>A	ENST00000427231.2	-	50	6798	c.6596C>T	c.(6595-6597)gCc>gTc	p.A2199V	NEB_ENST00000409198.1_Missense_Mutation_p.A2199V|NEB_ENST00000172853.10_Missense_Mutation_p.A2199V|NEB_ENST00000604864.1_Missense_Mutation_p.A2199V|NEB_ENST00000603639.1_Missense_Mutation_p.A2199V|NEB_ENST00000397345.3_Missense_Mutation_p.A2199V	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	2199					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	p.A2199V(2)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTGATCACTGGCATATTCAGT	0.463													5	205					0	0	0.184627	0	0	A	152512437	G	A	152512437	3	1	66	1	0	0	0	0	1	0	0	0	10349	1203	42	2	19622	2	NEB	2	152512437	Missense_Mutation	SNP	G	TCGA-EJ-5542-01A-01D-1576-08	20221972	152512437	90686936	12	3400											
ABCA12	26154	broad.mit.edu	37	chr2	215890407	215890407	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catggcttacttttgattttAggacttcaggaactggagga	10	14	11	6	0	1	1	1	1	0	0	1	5	1	5	0	5	2	1	0	5	3	6			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr2:215890407A>G	ENST00000272895.7	-	11	1496	c.1277T>C	c.(1276-1278)cTa>cCa	p.L426P	ABCA12_ENST00000389661.4_Missense_Mutation_p.L108P|AC072062.3_ENST00000437897.3_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	426					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTTTGATTTTAGGACTTCAGG	0.289													3	183					0	0	0.115264	0	0	G	215890407	A	G	215890407	3	3	66	1	0	0	0	0	1	0	0	0	30	420	15	3	6682	3	ABCA12	2	215890407	Missense_Mutation	SNP	A	TCGA-EJ-5542-01A-01D-1576-08	63377970	215890407	27308966	13	3401											
FAT4	79633	broad.mit.edu	37	chr4	126337635	126337635	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatgatgatcgaggatctaaCagcaaactctcatatgttct	13	12	8	8	1	3	2	1	2	3	0	5	5	3	3	0	1	3	2	0	1	3	3			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr4:126337635C>G	ENST00000394329.3	+	6	6889	c.6876C>G	c.(6874-6876)aaC>aaG	p.N2292K	FAT4_ENST00000335110.5_Missense_Mutation_p.N590K	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2292	Cadherin 22.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.N2292K(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GAGGATCTAACAGCAAACTCT	0.413													118	391					0	0	0.870114	0	0	G	126337635	C	G	126337635	3	3	66	1	0	0	0	0	1	0	0	0	5725	477	17	4	6898	4	FAT4	4	126337635	Missense_Mutation	SNP	C	TCGA-EJ-5542-01A-01D-1576-08		126337635	64816641	14	3402											
FGG	2266	broad.mit.edu	37	chr4	155532986	155532986	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtcatgtgttaaaatcgaTgcttcatatttcataatttc	12	17	6	6	1	3	0	3	0	0	0	5	2	3	0	0	0	1	2	0	0	4	6			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr4:155532986T>C	ENST00000404648.3	-	4	611	c.372A>G	c.(370-372)gcA>gcG	p.A124A	FGG_ENST00000336098.3_Silent_p.A124A|FGG_ENST00000405164.1_Silent_p.A124A|FGG_ENST00000407946.1_Silent_p.A124A	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	124					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	p.A124A(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TTAAAATCGATGCTTCATATT	0.299													28	66					0	0	0.693898	0	0	C	155532986	T	C	155532986	2	2	66	1	0	0	0	0	0	0	0	1	5903	1451	51	3		3	FGG	4	155532986	Silent	SNP	T	TCGA-EJ-5542-01A-01D-1576-08	29195351	155532986	35621290	15	3403											
ARRDC3	57561	broad.mit.edu	37	chr5	90670036	90670036	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatgtagaggaatggtacCgatgacaagtggcaaattaa	15	9	13	4	1	0	2	0	1	0	1	0	5	0	4	1	4	1	3	1	4	6	3			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr5:90670036C>T	ENST00000265138.3	-	6	1194	c.928G>A	c.(928-930)Ggt>Agt	p.G310S		NM_020801.2	NP_065852.1	Q96B67	ARRD3_HUMAN	arrestin domain containing 3	310					signal transduction	cytoplasm	protein binding	p.G310S(1)		breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	18		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)		GGAATGGTACCGATGACAAGT	0.378													5	285					0	0	0.248553	0	0	T	90670036	C	T	90670036	3	4	66	1	0	0	0	0	1	0	0	0	983	652	23	1	328	1	ARRDC3	5	90670036	Missense_Mutation	SNP	C	TCGA-EJ-5542-01A-01D-1576-08		90670036	90245224	16	3404											
KLHL3	26249	broad.mit.edu	37	chr5	136963996	136963996	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagtcattacctgcgttgcgCcggcacatgttcatgtctgc	6	12	10	13	3	3	0	2	0	1	0	3	0	3	0	2	1	4	3	2	1	1	3			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr5:136963996C>T	ENST00000508657.1	-	13	2199	c.1485G>A	c.(1483-1485)cgG>cgA	p.R495R	KLHL3_ENST00000309755.4_Silent_p.R527R|KLHL3_ENST00000506873.1_5'UTR|KLHL3_ENST00000506491.1_Silent_p.R445R|KLHL3_ENST00000541417.1_3'UTR	NM_001257194.1	NP_001244123.1	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	527						cytoplasm|cytoskeleton	actin binding|structural molecule activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		CTGCGTTGCGCCGGCACATGT	0.537													23	219					0	0	0.639603	0	0	T	136963996	C	T	136963996	2	4	66	1	0	0	0	0	0	0	0	1	8426	726	26	2		2	KLHL3	5	136963996	Silent	SNP	C	TCGA-EJ-5542-01A-01D-1576-08	46293960	136963996	43951264	17	3405											
PCDHA3	0	broad.mit.edu	37	chr5	140183011	140183011	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccacgctggtgtgctccagCgcggtggggagctggtcata	5	8	16	12	3	1	0	1	0	0	0	2	1	2	1	2	5	3	3	2	5	1	1			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr5:140183011C>T	ENST00000522353.2	+	1	2229	c.2229C>T	c.(2227-2229)agC>agT	p.S743S	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Silent_p.S743S|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1												p.S743S(4)|p.S743R(2)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGCTCCAGCGCGGTGGGGA	0.637													5	288					0	0	0.217242	0	0	T	140183011	C	T	140183011	2	4	66	1	0	0	0	0	0	0	0	1	11572	767	27	1		1	PCDHA3	5	140183011	Silent	SNP	C	TCGA-EJ-5542-01A-01D-1576-08	3219015	140183011	40732249	18	3406											
PCDHA7	0	broad.mit.edu	37	chr5	140215137	140215137	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggttacctgctccctgaCgccccgcgttcccttcaagt	6	10	8	17	3	1	1	1	1	0	0	3	1	3	1	5	1	2	3	5	1	2	3			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr5:140215137C>T	ENST00000525929.1	+	1	1169	c.1169C>T	c.(1168-1170)aCg>aTg	p.T390M	PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.T390M	NM_018910.2	NP_061733.1												p.T390M(2)		NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTCCCTGACGCCCCGCGTT	0.542													6	293					0	0	0.217242	0	0	T	140215137	C	T	140215137	3	4	66	1	0	0	0	0	1	0	0	0	11576	536	19	1	1171	1	PCDHA7	5	140215137	Missense_Mutation	SNP	C	TCGA-EJ-5542-01A-01D-1576-08	32126	140215137	40700123	19	3407											
PCDHA13	0	broad.mit.edu	37	chr5	140263465	140263465	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagttccaggtgagcgcgCgcgactctggcgtgccgcct	4	8	15	14	6	1	1	0	1	1	0	2	2	2	1	3	2	3	2	3	2	0	1			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr5:140263465C>T	ENST00000289272.2	+	1	1612	c.1612C>T	c.(1612-1614)Cgc>Tgc	p.R538C	PCDHA6_ENST00000527624.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.R538C|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000307360.5_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1												p.R538C(1)		NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGAGCGCGCGCGACTCTGG	0.682													5	167					0	0	0.184627	0	0	T	140263465	C	T	140263465	3	4	66	1	0	0	0	0	1	0	0	0	11570	768	27	1	1614	1	PCDHA13	5	140263465	Missense_Mutation	SNP	C	TCGA-EJ-5542-01A-01D-1576-08	48328	140263465	40651795	20	3408											
DOCK2	1794	broad.mit.edu	37	chr5	169483749	169483749	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcccgtgcgcagggggaccGtagacccagagaatgagttt	9	6	16	10	3	0	3	0	1	0	2	0	5	0	4	3	3	1	3	3	3	2	2			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr5:169483749G>A	ENST00000256935.8	+	43	4437	c.4357G>A	c.(4357-4359)Gta>Ata	p.V1453I	DOCK2_ENST00000540750.1_Missense_Mutation_p.V514I|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.V945I	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1453	DHR-2.|Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	p.V1453I(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGGGGGACCGTAGACCCAGA	0.557													18	50					0	0	0.539581	0	0	A	169483749	G	A	169483749	3	1	66	1	0	0	0	0	1	0	0	0	4714	1145	40	1	4527	1	DOCK2	5	169483749	Missense_Mutation	SNP	G	TCGA-EJ-5542-01A-01D-1576-08	29220284	169483749	11431511	21	3409											
ZNF292	23036	broad.mit.edu	37	chr6	87965133	87965137	+	Frame_Shift_Del	DEL	AGTAA	AGTAA	-																															cactgcatgttaaacaatctAgtaaagagagactagcagct																										TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr6:87965133_87965137delAGTAA	ENST00000369577.3	+	8	1829_1833	c.1786_1790delAGTAA	c.(1786-1791)afs	p.SK596fs	ZNF292_ENST00000339907.4_Frame_Shift_Del_p.SK591fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	596					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TAAACAATCTAGTAAAGAGAGACTA	0.361													10	76	---	---	---	---						-	87965137	AGTAA	-	87965133	7	5	66	1	0	1	0	1	0	0	0	0	17883	420	15	0	1816	0	ZNF292	6	87965133	Frame_Shift_Del	DEL	AGTAA	TCGA-EJ-5542-01A-01D-1576-08		87965133	83149934	22	3410											
TYW1	55253	broad.mit.edu	37	chr7	66548462	66548462	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagtggcggtggaagatggaCcagcctgaaatgatcttgaa	12	8	15	6	1	1	4	0	3	1	1	1	7	1	6	2	4	1	0	2	4	3	1			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr7:66548462C>A	ENST00000359626.5	+	11	1484	c.1320C>A	c.(1318-1320)gaC>gaA	p.D440E		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	440					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	p.D440E(1)		breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				GGAAGATGGACCAGCCTGAAA	0.443													5	151					0.000602214	0.000696848	0.184627	1	0	A	66548462	C	A	66548462	3	1	66	1	0	0	0	0	1	0	0	0	16880	506	18	4	1362	4	TYW1	7	66548462	Missense_Mutation	SNP	C	TCGA-EJ-5542-01A-01D-1576-08		66548462	92590201	23	3411											
LOXL2	4017	broad.mit.edu	37	chr8	23191091	23191091	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctctgtgccggtgcagtcCatggagaatggccagtagcg	7	8	15	11	2	1	1	0	0	1	1	2	2	2	1	4	3	3	2	4	3	2	1			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr8:23191091C>T	ENST00000389131.3	-	5	1158	c.789G>A	c.(787-789)atG>atA	p.M263I		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	263	SRCR 2.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity	p.M263I(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		CGGTGCAGTCCATGGAGAATG	0.612													24	61					0	0	0.654019	0	0	T	23191091	C	T	23191091	3	4	66	1	0	0	0	0	1	0	0	0	8945	594	21	2	1575	2	LOXL2	8	23191091	Missense_Mutation	SNP	C	TCGA-EJ-5542-01A-01D-1576-08		23191091	123172931	24	3412											
EXTL3	2137	broad.mit.edu	37	chr8	28575417	28575417	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagggcctttccatctttTcccccacactccctttgacc	5	13	4	19	0	1	1	0	1	1	0	5	1	5	1	7	1	0	0	7	1	0	4			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr8:28575417T>C	ENST00000220562.4	+	3	2743	c.1841T>C	c.(1840-1842)tTc>tCc	p.F614S	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Missense_Mutation_p.F230S	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	614						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding	p.F614S(1)		biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		TTCCATCTTTTCCCCCACACT	0.577													18	192					0	0	0.608945	0	0	C	28575417	T	C	28575417	3	2	66	1	0	0	0	0	1	0	0	0	5355	1783	62	3	1843	3	EXTL3	8	28575417	Missense_Mutation	SNP	T	TCGA-EJ-5542-01A-01D-1576-08	5384326	28575417	117788605	25	3413											
DMRT2	10655	broad.mit.edu	37	chr9	1053761	1053761	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaaacagaataatttcgagCgcaaagctgtgtaccagagg	15	7	12	7	2	0	2	0	0	0	2	1	4	0	3	1	2	4	3	1	2	5	3			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr9:1053761C>T	ENST00000259622.6	+	2	565	c.565C>T	c.(565-567)Cgc>Tgc	p.R189C	DMRT2_ENST00000358146.2_Missense_Mutation_p.R189C|DMRT2_ENST00000302441.6_Missense_Mutation_p.R189C|DMRT2_ENST00000382251.3_Missense_Mutation_p.R189C|DMRT2_ENST00000382255.3_Missense_Mutation_p.R189C|DMRT2_ENST00000412350.2_Missense_Mutation_p.R189C			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	189					male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	p.R189C(2)		large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		TAATTTCGAGCGCAAAGCTGT	0.448													14	158					0	0	0.479597	0	0	T	1053761	C	T	1053761	3	4	66	1	0	0	0	0	1	0	0	0	4614	768	27	1	571	1	DMRT2	9	1053761	Missense_Mutation	SNP	C	TCGA-EJ-5542-01A-01D-1576-08		1053761	140159670	26	3414											
SETX	23064	broad.mit.edu	37	chr9	135205329	135205329	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaatcgcttgcaaagagaCtgctgcccaagctgataacc	13	7	9	12	1	0	3	0	1	0	2	1	4	0	3	2	0	5	4	2	0	4	2			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr9:135205329C>A	ENST00000372169.2	-	10	1838	c.1656G>T	c.(1654-1656)caG>caT	p.Q552H	SETX_ENST00000393220.1_Missense_Mutation_p.Q552H|SETX_ENST00000224140.5_Missense_Mutation_p.Q552H			Q7Z333	SETX_HUMAN	senataxin	552					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TGCAAAGAGACTGCTGCCCAA	0.423													4	203					0.150653	0.164904	0.150653	1	0	A	135205329	C	A	135205329	3	1	66	1	0	0	0	0	1	0	0	0	14195	564	20	4	6445	4	SETX	9	135205329	Missense_Mutation	SNP	C	TCGA-EJ-5542-01A-01D-1576-08	134151568	135205329	6008102	27	3415											
EXD3	54932	broad.mit.edu	37	chr9	140243660	140243660	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cctccggctcccagccaggtCctccgacaggtggaagcggg	6	5	14	16	3	0	0	0	0	0	0	4	2	4	1	6	5	2	1	6	5	1	0			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr9:140243660C>G	ENST00000340951.4	-	16	1927	c.1732G>C	c.(1732-1734)Gac>Cac	p.D578H	EXD3_ENST00000342129.4_Missense_Mutation_p.D258H	NM_017820.3	NP_060290.3	Q8N9H8	MUT7_HUMAN	exonuclease 3'-5' domain containing 3	578					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	p.D578H(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						CCAGCCAGGTCCTCCGACAGG	0.701													5	17					0	0	0.184627	0	0	G	140243660	C	G	140243660	3	3	66	1	0	0	0	0	1	0	0	0	5326	855	30	4	926	4	EXD3	9	140243660	Missense_Mutation	SNP	C	TCGA-EJ-5542-01A-01D-1576-08	5038331	140243660	969771	28	3416											
ANKRD26	22852	broad.mit.edu	37	chr10	27329050	27329050	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagtgattttttttaagtTctaataatctttcacatgaa	13	18	4	6	0	3	2	1	2	2	0	3	2	3	2	0	0	0	1	0	0	4	8			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr10:27329050T>C	ENST00000376087.4	-	21	2384	c.2219A>G	c.(2218-2220)gAa>gGa	p.E740G	ANKRD26_ENST00000436985.2_Missense_Mutation_p.E756G|ANKRD26_ENST00000376070.3_Missense_Mutation_p.E297G	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	739						centrosome		p.E740G(1)		breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TTTTTTAAGTTCTAATAATCT	0.294													7	102					0	0	0.307466	0	0	C	27329050	T	C	27329050	3	2	66	1	0	0	0	0	1	0	0	0	650	1783	62	3	2969	3	ANKRD26	10	27329050	Missense_Mutation	SNP	T	TCGA-EJ-5542-01A-01D-1576-08		27329050	108205697	29	3417											
ERCC6	2074	broad.mit.edu	37	chr10	50666944	50666944	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagatttctcaatagttctcGgaagacacaagactgtgatg	13	11	9	8	1	2	4	1	1	2	3	4	5	2	5	0	1	0	1	0	1	4	3			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr10:50666944G>A	ENST00000355832.5	-	21	4477	c.4399C>T	c.(4399-4401)Cga>Tga	p.R1467*	RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000542458.1_Nonsense_Mutation_p.R837*	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	1467					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding	p.R1467*(2)		breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AATAGTTCTCGGAAGACACAA	0.458								Direct reversal of damage;Nucleotide excision repair (NER)					6	287					0	0	0.217242	0	0	A	50666944	G	A	50666944	4	1	66	1	0	0	0	0	0	1	0	0	5245	1124	39	1	86	1	ERCC6	10	50666944	Nonsense_Mutation	SNP	G	TCGA-EJ-5542-01A-01D-1576-08	23337894	50666944	84867803	30	3418											
AGAP11	119385	broad.mit.edu	37	chr10	88767684	88767686	+	RNA	DEL	TCT	TCT	-																															tccaaacaacagaaaatgtaTcttttttttttttttttttt																								rs71019446		TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr10:88767684_88767686delTCT	ENST00000444431.1	+	0	2711				RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										AGAAAATGTATCttttttttttt	0.414													2	4	---	---	---	---						-	88767686	TCT	-	88767684	6	5	66	0	1	1	0	1	0	0	0	0	366	1450	50	0		0	AGAP11	10	88767684	RNA	DEL	TCT	TCGA-EJ-5542-01A-01D-1576-08	38100740	88767684	46767063	31	3419											
PRG3	10394	broad.mit.edu	37	chr11	57147239	57147239	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atccagatcctggcctaggtCtgcctgtgtctctaggctct	5	13	10	13	0	3	1	0	0	3	1	6	1	5	1	4	3	1	1	4	3	2	2			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr11:57147239C>T	ENST00000287143.2	-	3	212	c.103G>A	c.(103-105)Gac>Aac	p.D35N		NM_006093.3	NP_006084.2	Q9Y2Y8	PRG3_HUMAN	proteoglycan 3	35					basophil activation|histamine biosynthetic process|immune response|leukotriene biosynthetic process|negative regulation of translation|neutrophil activation|positive regulation of interleukin-8 biosynthetic process|superoxide anion generation		sugar binding	p.D35N(1)		large_intestine(3)|lung(5)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	13						TGGCCTAGGTCTGCCTGTGTC	0.557													45	115					0	0	0.870114	0	0	T	57147239	C	T	57147239	3	4	66	1	0	0	0	0	1	0	0	0	12532	913	32	2	590	2	PRG3	11	57147239	Missense_Mutation	SNP	C	TCGA-EJ-5542-01A-01D-1576-08		57147239	77859277	32	3420											
MPEG1	219972	broad.mit.edu	37	chr11	58979394	58979394	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aagtcaggtagcatgttgggGttgatgaagaaatgcagcgg	12	9	16	4	1	1	3	1	2	0	1	1	3	1	3	0	4	3	5	0	4	4	3			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr11:58979394G>T	ENST00000361050.3	-	1	1030	c.945C>A	c.(943-945)aaC>aaA	p.N315K		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	315	MACPF.					integral to membrane		p.N315K(1)		NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				GCATGTTGGGGTTGATGAAGA	0.552													17	74					1.45105e-14	1.78084e-14	0.539581	1	0	T	58979394	G	T	58979394	3	4	66	1	0	0	0	0	1	0	0	0	9772	1252	44	4	1209	4	MPEG1	11	58979394	Missense_Mutation	SNP	G	TCGA-EJ-5542-01A-01D-1576-08	1832155	58979394	76027122	33	3421											
DAGLA	747	broad.mit.edu	37	chr11	61505663	61505663	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctcctggatgtcctgcagcGaagcaccaagcccaaagtga	11	6	11	13	1	0	1	0	1	0	0	2	3	2	2	4	1	4	3	4	1	3	0			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr11:61505663G>A	ENST00000257215.5	+	16	1756	c.1640G>A	c.(1639-1641)cGa>cAa	p.R547Q		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	547					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	p.R547Q(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GTCCTGCAGCGAAGCACCAAG	0.637													4	45					0	0	0.150653	0	0	A	61505663	G	A	61505663	3	1	66	1	0	0	0	0	1	0	0	0	4250	1058	37	1	1698	1	DAGLA	11	61505663	Missense_Mutation	SNP	G	TCGA-EJ-5542-01A-01D-1576-08	2526269	61505663	73500853	34	3422											
PGM2L1	283209	broad.mit.edu	37	chr11	74053512	74053512	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaaaggtacttactgatttCttattaggctggctactgtc	11	15	8	7	0	1	1	0	1	1	0	2	1	1	1	0	3	3	3	0	3	7	6	rs151007979		TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr11:74053512C>T	ENST00000298198.4	-	12	1937	c.1626G>A	c.(1624-1626)aaG>aaA	p.K542K		NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1	542					glucose 1-phosphate metabolic process	cytosol	glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity	p.K542K(1)		NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					TTACTGATTTCTTATTAGGCT	0.353													13	163					0	0	0.435327	0	0	T	74053512	C	T	74053512	2	4	66	1	0	0	0	0	0	0	0	1	11847	912	32	2		2	PGM2L1	11	74053512	Silent	SNP	C	TCGA-EJ-5542-01A-01D-1576-08	12547849	74053512	60953004	35	3423											
SIDT2	51092	broad.mit.edu	37	chr11	117066583	117066583	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgacttctttgacgaccaCgacatctggcacttcctctc	7	12	6	16	3	3	1	0	1	3	0	6	4	4	1	2	1	0	1	2	1	0	3			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr11:117066583C>T	ENST00000324225.4	+	25	2919	c.2388C>T	c.(2386-2388)caC>caT	p.H796H	SIDT2_ENST00000532062.1_Silent_p.H88H|SIDT2_ENST00000431081.2_Silent_p.H793H	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	796						integral to membrane|lysosomal membrane		p.H796H(1)		NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		TTGACGACCACGACATCTGGC	0.602													6	466					0	0	0.248553	0	0	T	117066583	C	T	117066583	2	4	66	1	0	0	0	0	0	0	0	1	14358	535	19	1		1	SIDT2	11	117066583	Silent	SNP	C	TCGA-EJ-5542-01A-01D-1576-08	43013071	117066583	17939933	36	3424											
NACA	4666	broad.mit.edu	37	chr12	57112065	57112065	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggagggaggagtcgcagcTgggggagtgggggccccctt	5	5	23	8	1	0	0	0	0	0	0	1	4	0	4	2	8	1	2	2	8	0	1			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr12:57112065T>C	ENST00000454682.1	-	3	3530	c.3249A>G	c.(3247-3249)ccA>ccG	p.P1083P	NACA_ENST00000552540.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000551793.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GAGTCGCAGCTGGGGGAGTGG	0.672			T	BCL6	NHL								34	73					0	0	0.812448	0	0	C	57112065	T	C	57112065	2	2	66	1	0	0	0	0	0	0	0	1	10181	1567	55	3		3	NACA	12	57112065	Silent	SNP	T	TCGA-EJ-5542-01A-01D-1576-08		57112065	76739830	37	3425											
CMA1	1215	broad.mit.edu	37	chr14	24976626	24976626	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaggaaaccaccacaaaattTtgagggaccgttggaagtta	16	8	10	7	1	0	1	0	1	0	0	0	4	0	4	3	3	1	2	3	3	6	4			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr14:24976626T>C	ENST00000250378.3	-	2	174	c.145A>G	c.(145-147)Aaa>Gaa	p.K49E	CMA1_ENST00000206446.4_Intron|RP11-80A15.1_ENST00000555109.1_Intron	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	49	Peptidase S1.				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity	p.K49E(1)		kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		CCACAAAATTTTGAGGGACCG	0.502													94	274					0	0	0.870114	0	0	C	24976626	T	C	24976626	3	2	66	1	0	0	0	0	1	0	0	0	3597	1850	64	3	614	3	CMA1	14	24976626	Missense_Mutation	SNP	T	TCGA-EJ-5542-01A-01D-1576-08		24976626	82372914	38	3426											
PTPN21	11099	broad.mit.edu	37	chr14	88983485	88983485	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggcacataaaacaccaCtccaaaatagacggtaggtt	17	7	8	9	1	0	2	0	1	0	1	1	2	1	2	2	3	1	3	2	3	7	4			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr14:88983485C>T	ENST00000556564.1	-	3	585	c.301G>A	c.(301-303)Gtg>Atg	p.V101M	PTPN21_ENST00000554628.1_5'UTR|PTPN21_ENST00000328736.3_Missense_Mutation_p.V101M	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	101	FERM.					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	p.V101M(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TAAAACACCACTCCAAAATAG	0.413													45	117					0	0	0.859065	0	0	T	88983485	C	T	88983485	3	4	66	1	0	0	0	0	1	0	0	0	12838	565	20	2	3291	2	PTPN21	14	88983485	Missense_Mutation	SNP	C	TCGA-EJ-5542-01A-01D-1576-08	64006859	88983485	18366055	39	3427											
RCOR1	23186	broad.mit.edu	37	chr14	103174893	103174893	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgatggatcgccatgcccGgaaacaaaaacgggagcggg	12	5	15	9	4	0	1	0	1	0	0	1	4	0	4	2	4	4	0	2	4	3	0			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr14:103174893G>A	ENST00000262241.6	+	6	978	c.752G>A	c.(751-753)cGg>cAg	p.R251Q	RCOR1_ENST00000570597.1_Missense_Mutation_p.R248Q	NM_015156.3	NP_055971.2	Q9UKL0	RCOR1_HUMAN	REST corepressor 1	248	Interaction with HDAC1.				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						CGCCATGCCCGGAAACAAAAA	0.463													5	337					0	0	0.184627	0	0	A	103174893	G	A	103174893	3	1	66	1	0	0	0	0	1	0	0	0	13234	1116	39	1	765	1	RCOR1	14	103174893	Missense_Mutation	SNP	G	TCGA-EJ-5542-01A-01D-1576-08	14191408	103174893	4174647	40	3428											
FBN1	2200	broad.mit.edu	37	chr15	48788323	48788323	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgtttttagatcaggtttgTagataaatcccttggggcag	10	15	11	5	0	1	2	1	0	0	2	2	2	2	2	1	3	0	4	1	3	4	7			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr15:48788323T>C	ENST00000316623.5	-	20	2848	c.2393A>G	c.(2392-2394)tAc>tGc	p.Y798C		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	798	EGF-like 12; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	p.Y798C(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ATCAGGTTTGTAGATAAATCC	0.353													41	110					0	0	0.819951	0	0	C	48788323	T	C	48788323	3	2	66	1	0	0	0	0	1	0	0	0	5735	1638	57	3	6410	3	FBN1	15	48788323	Missense_Mutation	SNP	T	TCGA-EJ-5542-01A-01D-1576-08		48788323	53743069	41	3429											
NLRC3	197358	broad.mit.edu	37	chr16	3613171	3613171	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcagcctggccagggccccGctctccatggcctcctccac	4	7	10	20	1	2	0	1	0	1	0	5	0	4	0	8	3	1	1	8	3	0	0			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr16:3613171G>A	ENST00000301749.7	-	0	2172				NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000603507.1_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding	p.S636S(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCAGGGCCCCGCTCTCCATGG	0.697													4	13					0	0	0.184627	0	0	A	3613171	G	A	3613171	1	1	66	0	1	0	0	0	0	0	0	0	10515	1078	38	1		1	NLRC3	16	3613171	RNA	SNP	G	TCGA-EJ-5542-01A-01D-1576-08		3613171	86741582	42	3430											
ZNF423	23090	broad.mit.edu	37	chr16	49672120	49672120	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggttggcgtgggcttggtGgatatgggcgagcagtgtgt	4	12	20	5	2	0	0	0	0	0	0	0	2	0	1	0	6	1	3	0	6	1	3			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr16:49672120G>T	ENST00000561648.1	-	4	996	c.943C>A	c.(943-945)Cac>Aac	p.H315N	ZNF423_ENST00000562520.1_Missense_Mutation_p.H255N|ZNF423_ENST00000567169.1_Missense_Mutation_p.H198N|ZNF423_ENST00000262383.2_Missense_Mutation_p.H315N|ZNF423_ENST00000535559.1_Missense_Mutation_p.H198N|ZNF423_ENST00000562871.1_Missense_Mutation_p.H255N|ZNF423_ENST00000563137.2_Missense_Mutation_p.H255N	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	315					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.H315N(3)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TGGGCTTGGTGGATATGGGCG	0.622													4	112					0.184627	0.199397	0.184627	1	0	T	49672120	G	T	49672120	3	4	66	1	0	0	0	0	1	0	0	0	17955	1348	47	4	2931	4	ZNF423	16	49672120	Missense_Mutation	SNP	G	TCGA-EJ-5542-01A-01D-1576-08	46058949	49672120	40682633	43	3431											
SMG6	23293	broad.mit.edu	37	chr17	2076132	2076132	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttacagaaatcagccagcgtCgaccatacatccacagcaac	15	6	6	14	2	1	1	1	0	0	1	3	2	2	1	3	0	6	1	3	0	4	2			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr17:2076132C>T	ENST00000544865.1	-	13	3594	c.3084G>A	c.(3082-3084)tcG>tcA	p.S1028S	SMG6_ENST00000536871.2_Silent_p.S151S|SMG6_ENST00000354901.4_Silent_p.S151S|SMG6_ENST00000263073.5_Silent_p.S1059S			Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	1059					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding	p.S1059S(2)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CAGCCAGCGTCGACCATACAT	0.453													13	61					0	0	0.411799	0	0	T	2076132	C	T	2076132	2	4	66	1	0	0	0	0	0	0	0	1	14851	871	31	1		1	SMG6	17	2076132	Silent	SNP	C	TCGA-EJ-5542-01A-01D-1576-08		2076132	79119078	44	3432											
GSDMB	55876	broad.mit.edu	37	chr17	38062140	38062140	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagaatggcttttgcacgCgcttctaccaagaccccagc	9	9	8	15	2	1	2	0	0	1	2	2	2	2	2	4	1	3	3	4	1	3	4	rs144949338		TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr17:38062140C>T	ENST00000394175.2	-	6	1144	c.921G>A	c.(919-921)gcG>gcA	p.A307A	GSDMB_ENST00000360317.3_Silent_p.A329A|GSDMB_ENST00000394179.1_Silent_p.A324A|GSDMB_ENST00000418519.1_Silent_p.A329A|GSDMB_ENST00000309481.7_Silent_p.A316A|GSDMB_ENST00000520542.1_Silent_p.A320A	NM_018530.2	NP_061000.2	Q8TAX9	GSDMB_HUMAN	gasdermin B	324						cytoplasm		p.A307A(1)|p.A329A(1)		breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						CTTTTGCACGCGCTTCTACCA	0.567													80	191					0	0	0.870114	0	0	T	38062140	C	T	38062140	2	4	66	1	0	0	0	0	0	0	0	1	6858	755	27	1		1	GSDMB	17	38062140	Silent	SNP	C	TCGA-EJ-5542-01A-01D-1576-08	35986008	38062140	43133070	45	3433											
ZNF521	25925	broad.mit.edu	37	chr18	22804629	22804629	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accatatggcaggccattgaTatcaagtttcaccagatctt	12	12	7	10	0	3	2	2	1	1	1	3	2	3	2	3	2	0	2	3	2	3	5			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr18:22804629T>C	ENST00000361524.3	-	4	3401	c.3253A>G	c.(3253-3255)Atc>Gtc	p.I1085V	ZNF521_ENST00000584787.1_Missense_Mutation_p.I865V|ZNF521_ENST00000538137.2_Missense_Mutation_p.I1085V	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1085					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	p.I1085V(2)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					AGGCCATTGATATCAAGTTTC	0.532			T	PAX5	ALL								7	120					0	0	0.248553	0	0	C	22804629	T	C	22804629	3	2	66	1	0	0	0	0	1	0	0	0	18022	1406	49	3	702	3	ZNF521	18	22804629	Missense_Mutation	SNP	T	TCGA-EJ-5542-01A-01D-1576-08		22804629	55272619	46	3434											
MLLT1	4298	broad.mit.edu	37	chr19	6216424	6216424	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgggccgtcacctggagtcCctccccgggttggtcttgcc	2	9	13	17	3	2	0	1	0	1	0	4	1	4	1	7	4	1	1	7	4	0	2			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr19:6216424C>T	ENST00000252674.7	-	8	1462	c.1299G>A	c.(1297-1299)agG>agA	p.R433R	MLLT1_ENST00000585588.1_5'UTR	NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	433					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding	p.R433R(1)		endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						ACCTGGAGTCCCTCCCCGGGT	0.711			T	MLL	AL								3	15					0	0	0.115264	0	0	T	6216424	C	T	6216424	2	4	66	1	0	0	0	0	0	0	0	1	9673	622	22	2		2	MLLT1	19	6216424	Silent	SNP	C	TCGA-EJ-5542-01A-01D-1576-08		6216424	52912559	47	3435											
OR10H2	26538	broad.mit.edu	37	chr19	15839017	15839017	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtctggagcgagcgcagccTccacacgcccatgtacctct	7	7	10	17	4	2	0	0	0	2	0	3	2	3	1	4	1	4	2	4	1	1	1			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr19:15839017T>C	ENST00000305899.3	+	1	184	c.164T>C	c.(163-165)cTc>cCc	p.L55P		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					GAGCGCAGCCTCCACACGCCC	0.612													4	196					0	0	0.184627	0	0	C	15839017	T	C	15839017	3	2	66	1	0	0	0	0	1	0	0	0	10954	1551	54	3	166	3	OR10H2	19	15839017	Missense_Mutation	SNP	T	TCGA-EJ-5542-01A-01D-1576-08	9622593	15839017	43289966	48	3436											
KCNK6	9424	broad.mit.edu	37	chr19	38810914	38810914	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acgctgatcaccaccgtgggTacgtaagcgcctcaccgcaa	10	6	10	15	5	2	1	2	1	0	0	2	1	2	1	4	1	2	4	4	1	3	2			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr19:38810914T>C	ENST00000263372.3	+	1	429		c.e1+2		KCNK6_ENST00000588137.1_Splice_Site	NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	potassium channel, subfamily K, member 6							voltage-gated potassium channel complex	inward rectifier potassium channel activity	p.?(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)	CCACCGTGGGTACGTAAGCGC	0.647													3	50					0	0	0.115264	0	0	C	38810914	T	C	38810914	5	2	66	1	0	0	0	0	0	0	1	0	8114	1652	57	3	326	3	KCNK6	19	38810914	Splice_Site	SNP	T	TCGA-EJ-5542-01A-01D-1576-08	22971897	38810914	20318069	49	3437											
GRIK5	2901	broad.mit.edu	37	chr19	42569514	42569514	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacgctcaccgcggccacaCactgtctgatcatccaggat	10	7	9	15	3	3	2	2	1	1	1	4	3	4	3	3	2	0	1	3	2	0	0			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr19:42569514C>T	ENST00000262895.3	-	2	104	c.105G>A	c.(103-105)gtG>gtA	p.V35V	GRIK5_ENST00000593562.1_Silent_p.V35V|GRIK5_ENST00000301218.4_Silent_p.V35V	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	35						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.V35V(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	CGCGGCCACACACTGTCTGAT	0.607													4	84					0	0	0.184627	0	0	T	42569514	C	T	42569514	2	4	66	1	0	0	0	0	0	0	0	1	6818	465	17	2		2	GRIK5	19	42569514	Silent	SNP	C	TCGA-EJ-5542-01A-01D-1576-08	3758600	42569514	16559469	50	3438											
RSPH6A	81492	broad.mit.edu	37	chr19	46299171	46299171	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcctcctcctcgccctcctCctcctcctctgtggctccca	1	12	4	24	1	1	0	0	0	1	0	10	0	9	0	9	1	0	1	9	1	0	0			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr19:46299171C>A	ENST00000221538.3	-	6	2252	c.2110G>T	c.(2110-2112)Gag>Tag	p.E704*	RSPH6A_ENST00000600188.1_Nonsense_Mutation_p.E440*|RSPH6A_ENST00000597055.1_3'UTR	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	704	Glu-rich.					intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						tcgccctcctcctcctcctcT	0.592													4	185					0.150653	0.164904	0.150653	1	0	A	46299171	C	A	46299171	4	1	66	1	0	0	0	0	0	1	0	0	13759	864	30	4	47	4	RSPH6A	19	46299171	Nonsense_Mutation	SNP	C	TCGA-EJ-5542-01A-01D-1576-08	3729657	46299171	12829812	51	3439											
SH3BP1	23616	broad.mit.edu	37	chr22	38039665	38039665	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctccaggctcagtcaggcaaCcaagaattcaggcagcagtc	12	6	10	13	0	3	1	3	0	0	1	5	1	4	1	2	3	2	4	2	3	3	1			TCGA-EJ-5542-01A-01D-1576-08	TCGA-EJ-5542-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce0298b4-8456-4369-8916-c951b956dcc6	dd83711f-fea0-42e2-93ca-58faed54db89	g.chr22:38039665C>A	ENST00000599616.1	+	5	296	c.296C>A	c.(295-297)aCc>aAc	p.T99N	SH3BP1_ENST00000357436.4_Missense_Mutation_p.T163N|SH3BP1_ENST00000336738.5_Missense_Mutation_p.T163N|Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000442465.2_Missense_Mutation_p.T163N|SH3BP1_ENST00000495174.1_3'UTR			Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	163	BAR.				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding	p.T163N(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					AGTCAGGCAACCAAGAATTCA	0.587											OREG0026546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	78					0.150653	0.164904	0.150653	1	0	A	38039665	C	A	38039665	3	1	66	1	0	0	0	0	1	0	0	0	14298	507	18	4	514	4	SH3BP1	22	38039665	Missense_Mutation	SNP	C	TCGA-EJ-5542-01A-01D-1576-08		38039665	13264901	52	3440											
PRDM16	63976	broad.mit.edu	37	chr1	3328642	3328642	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgggctcggacctggacagCgacgtggacagcgaccctga	9	4	15	13	5	0	1	0	1	0	0	1	6	0	4	2	4	2	1	2	4	0	0			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr1:3328642C>T	ENST00000378398.3	+	10	1966	c.1884C>T	c.(1882-1884)agC>agT	p.S628S	PRDM16_ENST00000378391.2_Silent_p.S627S|PRDM16_ENST00000442529.2_Silent_p.S627S|PRDM16_ENST00000441472.2_Silent_p.S627S|PRDM16_ENST00000514189.1_Silent_p.S628S|PRDM16_ENST00000511072.1_Silent_p.S628S|PRDM16_ENST00000270722.5_Silent_p.S627S|PRDM16_ENST00000512462.1_3'UTR			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	627					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		ACCTGGACAGCGACGTGGACA	0.687			T	EVI1	"MDS, AML"								36	113					0	0	0.812448	0	0	T	3328642	C	T	3328642	2	4	67	1	0	0	0	0	0	0	0	1	12509	767	27	1		1	PRDM16	1	3328642	Silent	SNP	C	TCGA-EJ-7115-01A-11D-2114-08		3328642	245921979	1	3441											
PADI3	51702	broad.mit.edu	37	chr1	17594365	17594365	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgtcatggtcctgcggaCgcagggccctgcagccctct	4	9	13	15	2	3	0	1	0	2	0	4	1	4	1	3	3	3	2	3	3	0	0	rs146396025		TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr1:17594365C>T	ENST00000375460.3	+	6	600	c.560C>T	c.(559-561)aCg>aTg	p.T187M		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	187					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GTCCTGCGGACGCAGGGCCCT	0.577													34	81					0	0	0.750413	0	0	T	17594365	C	T	17594365	3	4	67	1	0	0	0	0	1	0	0	0	11426	536	19	1	582	1	PADI3	1	17594365	Missense_Mutation	SNP	C	TCGA-EJ-7115-01A-11D-2114-08	14265723	17594365	231656256	2	3442											
GPBP1L1	60313	broad.mit.edu	37	chr1	46105995	46105995	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgaggtgaatgcagcagAgaaggcagcagcaggatcct	12	6	16	7	0	0	3	0	2	0	1	1	5	1	4	1	4	4	5	1	4	2	0			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr1:46105995A>T	ENST00000355105.3	-	8	1991	c.631T>A	c.(631-633)Tct>Act	p.S211T	GPBP1L1_ENST00000290795.3_Missense_Mutation_p.S211T	NM_021639.4	NP_067652.1	Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	211					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding		GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					AATGCAGCAGAGAAGGCAGCA	0.473													24	238					0	0	0.681144	0	0	T	46105995	A	T	46105995	3	4	67	1	0	0	0	0	1	0	0	0	6636	304	11	5	817	5	GPBP1L1	1	46105995	Missense_Mutation	SNP	A	TCGA-EJ-7115-01A-11D-2114-08	28511630	46105995	203144626	3	3443											
C1orf146	388649	broad.mit.edu	37	chr1	92709886	92709886	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaatagttttttggttttGtctgctgccctccatgggcc	6	16	9	10	0	1	0	0	0	1	0	2	0	2	0	3	2	2	3	3	2	3	6			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr1:92709886G>A	ENST00000370373.2	+	5	560	c.96G>A	c.(94-96)ttG>ttA	p.L32L	C1orf146_ENST00000370375.3_Silent_p.L91L			Q5VVC0	CA146_HUMAN	chromosome 1 open reading frame 146	91										breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8		all_lung(203;0.00528)|Lung NSC(277;0.0193)		all cancers(265;0.00846)|Epithelial(280;0.0952)		TTTTGGTTTTGTCTGCTGCCC	0.328													10	25					0	0	0.411799	0	0	A	92709886	G	A	92709886	2	1	67	1	0	0	0	0	0	0	0	1	2016	1368	48	2		2	C1orf146	1	92709886	Silent	SNP	G	TCGA-EJ-7115-01A-11D-2114-08	46603891	92709886	156540735	4	3444											
PRMT6	55170	broad.mit.edu	37	chr1	107600027	107600027	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcttcgccacgcgctgtctCatgggccactcggagatcgt	5	9	13	14	5	1	1	1	0	1	1	5	2	1	1	2	3	0	2	2	3	0	1			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr1:107600027C>T	ENST00000361318.5	+	1	761	c.513C>T	c.(511-513)ctC>ctT	p.L171L	PRMT6_ENST00000370078.1_Silent_p.L230L	NM_018137.2	NP_060607.2	Q96LA8	ANM6_HUMAN	protein arginine methyltransferase 6	230					base-excision repair|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone binding|histone methyltransferase activity (H2A-R3 specific)|histone methyltransferase activity (H3-R2 specific)|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			biliary_tract(1)|breast(2)|kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	14		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)		CGCGCTGTCTCATGGGCCACT	0.657													35	77					0	0	0.796494	0	0	T	107600027	C	T	107600027	2	4	67	1	0	0	0	0	0	0	0	1	12592	813	29	2		2	PRMT6	1	107600027	Silent	SNP	C	TCGA-EJ-7115-01A-11D-2114-08	14890141	107600027	141650594	5	3445											
HFE2	148738	broad.mit.edu	37	chr1	145415767	145415767	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagcttggcctctactggatAatgacttcctctttgtccaa	8	14	8	11	0	2	1	0	1	2	0	4	3	4	2	3	2	2	1	3	2	3	5			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr1:145415767A>C	ENST00000336751.5	+	3	824	c.586A>C	c.(586-588)Aat>Cat	p.N196H	HFE2_ENST00000475797.1_Intron|HFE2_ENST00000357836.5_Missense_Mutation_p.N83H|HFE2_ENST00000497365.1_Intron	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	196					axon guidance	anchored to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCTACTGGATAATGACTTCCT	0.587													45	125					0	0	0.853193	0	0	C	145415767	A	C	145415767	3	2	67	1	0	0	0	0	1	0	0	0	7123	362	13	5	592	5	HFE2	1	145415767	Missense_Mutation	SNP	A	TCGA-EJ-7115-01A-11D-2114-08	37815740	145415767	103834854	6	3446											
ETV3	2117	broad.mit.edu	37	chr1	157105282	157105282	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgagggcccggctcagctTgtcataattcatctgtggtt	6	13	11	11	1	4	1	3	1	1	0	4	1	4	1	2	3	1	3	2	3	1	4			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr1:157105282T>A	ENST00000368192.4	-	3	329	c.265A>T	c.(265-267)Aag>Tag	p.K89*	ETV3_ENST00000460850.1_5'UTR|ETV3_ENST00000326786.4_Nonsense_Mutation_p.K89*	NM_001145312.1	NP_001138784.1	P41162	ETV3_HUMAN	ets variant 3	89							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	9	Hepatocellular(266;0.158)	Prostate(1639;0.174)				CGGCTCAGCTTGTCATAATTC	0.498													22	39					0	0	0.639603	0	0	A	157105282	T	A	157105282	4	1	67	1	0	0	0	0	0	1	0	0	5307	1821	63	5	1317	5	ETV3	1	157105282	Nonsense_Mutation	SNP	T	TCGA-EJ-7115-01A-11D-2114-08	11689515	157105282	92145339	7	3447											
ADORA1	134	broad.mit.edu	37	chr1	203134969	203134969	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agatttggaatgaccatttcCgctgccagcctgcacctccc	8	10	8	15	1	0	2	0	1	0	1	2	3	2	3	6	1	3	2	6	1	1	2			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr1:203134969C>T	ENST00000367236.4	+	3	1843	c.922C>T	c.(922-924)Cgc>Tgc	p.R308C	ADORA1_ENST00000367235.1_3'UTR|ADORA1_ENST00000337894.4_Missense_Mutation_p.R308C|ADORA1_ENST00000309502.3_Missense_Mutation_p.R308C|ADORA1_ENST00000472535.1_3'UTR	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN	adenosine A1 receptor	308					induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)	TGACCATTTCCGCTGCCAGCC	0.582													13	77					0	0	0.479597	0	0	T	203134969	C	T	203134969	3	4	67	1	0	0	0	0	1	0	0	0	325	652	23	1	928	1	ADORA1	1	203134969	Missense_Mutation	SNP	C	TCGA-EJ-7115-01A-11D-2114-08	46029687	203134969	46115652	8	3448											
TACR1	6869	broad.mit.edu	37	chr2	75347894	75347894	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggatgtatgatggccatgtaCctggaacagagaagaaagaa	16	7	13	5	0	0	4	0	1	0	3	0	7	0	6	2	3	2	2	2	3	6	2			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr2:75347894C>G	ENST00000305249.4	-	2	1155	c.389_splice	c.e2-1	p.R130_splice	TACR1_ENST00000409848.3_Splice_Site_p.R130_splice	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	130					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	TGGCCATGTACCTGGAACAGA	0.483													22	38					0	0	0.608945	0	0	G	75347894	C	G	75347894	5	3	67	1	0	0	0	0	0	0	1	0	15562	521	18	4	853	4	TACR1	2	75347894	Splice_Site	SNP	C	TCGA-EJ-7115-01A-11D-2114-08		75347894	167851479	9	3449											
GGCX	2677	broad.mit.edu	37	chr2	85777103	85777106	+	Frame_Shift_Del	DEL	GAAT	GAAT	-																															gatttgactcaggaggattaGaatgtgaagaatccgtgttt																										TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr2:85777103_85777106delGAAT	ENST00000233838.3	-	15	2308_2311	c.2228_2231delATTC	c.(2227-2232)ctfs	p.HS743fs	GGCX_ENST00000430215.3_Frame_Shift_Del_p.HS686fs	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase	743					blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)	AGGAGGATTAGAATGTGAAGAATC	0.515													25	61	---	---	---	---						-	85777106	GAAT	-	85777103	7	5	67	1	0	1	0	1	0	0	0	0	6398	942	33	0	49	0	GGCX	2	85777103	Frame_Shift_Del	DEL	GAAT	TCGA-EJ-7115-01A-11D-2114-08	10429209	85777103	157422270	10	3450											
CYTIP	9595	broad.mit.edu	37	chr2	158272362	158272362	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctggtgttactgatgctccGgttcctccttgaagatgacc	6	13	11	11	1	0	4	0	3	0	1	3	4	3	4	4	2	2	4	4	2	2	3			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr2:158272362G>A	ENST00000264192.3	-	8	1028	c.907C>T	c.(907-909)Cgg>Tgg	p.R303W	CYTIP_ENST00000540637.1_Missense_Mutation_p.R197W	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	303	Ser-rich.				regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						CTGATGCTCCGGTTCCTCCTT	0.547													28	67					0	0	0.717897	0	0	A	158272362	G	A	158272362	3	1	67	1	0	0	0	0	1	0	0	0	4230	1115	39	1	176	1	CYTIP	2	158272362	Missense_Mutation	SNP	G	TCGA-EJ-7115-01A-11D-2114-08	72495259	158272362	84927011	11	3451											
CCDC108	255101	broad.mit.edu	37	chr2	219900337	219900337	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agatgaccctcttgttcactCtctcctgcttctttggggag	5	15	9	12	0	4	2	1	1	3	1	6	3	5	3	2	2	1	2	2	2	0	4			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr2:219900337C>G	ENST00000341552.5	-	5	490	c.407G>C	c.(406-408)aGa>aCa	p.R136T	CCDC108_ENST00000324264.6_Missense_Mutation_p.R71T|CCDC108_ENST00000453220.1_Missense_Mutation_p.R136T|CCDC108_ENST00000441968.1_Missense_Mutation_p.R136T|CCDC108_ENST00000409865.3_Missense_Mutation_p.R125T|CCDC108_ENST00000410037.1_Missense_Mutation_p.R71T|CCDC108_ENST00000295729.2_Missense_Mutation_p.R71T	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	136						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTGTTCACTCTCTCCTGCTT	0.547													42	106					0	0	0.834066	0	0	G	219900337	C	G	219900337	3	3	67	1	0	0	0	0	1	0	0	0	2761	913	32	4	5642	4	CCDC108	2	219900337	Missense_Mutation	SNP	C	TCGA-EJ-7115-01A-11D-2114-08	61627975	219900337	23299036	12	3452											
SLC4A7	9497	broad.mit.edu	37	chr3	27459989	27459989	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcttacctgagaagggacActttttggtggttctatgcg	8	15	11	7	1	2	1	0	1	2	1	2	3	2	2	1	3	2	1	1	3	3	6			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr3:27459989A>C	ENST00000295736.5	-	11	1690	c.1620T>G	c.(1618-1620)agT>agG	p.S540R	SLC4A7_ENST00000440156.1_Missense_Mutation_p.S536R|SLC4A7_ENST00000437179.1_Missense_Mutation_p.S421R|SLC4A7_ENST00000445684.1_Missense_Mutation_p.S536R|SLC4A7_ENST00000435667.2_Missense_Mutation_p.S425R|SLC4A7_ENST00000425128.2_Missense_Mutation_p.S532R|SLC4A7_ENST00000455077.1_Missense_Mutation_p.S421R|SLC4A7_ENST00000454389.1_Missense_Mutation_p.S549R|SLC4A7_ENST00000446700.1_Missense_Mutation_p.S532R|SLC4A7_ENST00000388777.4_Missense_Mutation_p.S90R|SLC4A7_ENST00000428386.1_Missense_Mutation_p.S416R	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	540						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						GAGAAGGGACACTTTTTGGTG	0.353													8	32					0	0	0.361761	0	0	C	27459989	A	C	27459989	3	2	67	1	0	0	0	0	1	0	0	0	14713	156	6	5	2084	5	SLC4A7	3	27459989	Missense_Mutation	SNP	A	TCGA-EJ-7115-01A-11D-2114-08		27459989	170562441	13	3453											
COL7A1	1294	broad.mit.edu	37	chr3	48608571	48608571	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggaggcccaggggagcccGggaccccgactcctgggtca	7	3	16	15	2	1	0	1	0	0	0	2	4	2	3	5	6	1	0	5	6	0	0	rs150193295		TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr3:48608571G>A	ENST00000328333.8	-	93	7234	c.7127C>T	c.(7126-7128)cCg>cTg	p.P2376L	COL7A1_ENST00000454817.1_Missense_Mutation_p.P2344L	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2376	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGGGGAGCCCGGGACCCCGAC	0.642													4	95					0	0	0.150653	0	0	A	48608571	G	A	48608571	3	1	67	1	0	0	0	0	1	0	0	0	3727	1116	39	1	1811	1	COL7A1	3	48608571	Missense_Mutation	SNP	G	TCGA-EJ-7115-01A-11D-2114-08	21148582	48608571	149413859	14	3454											
LPHN3	23284	broad.mit.edu	37	chr4	62599226	62599226	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgtatggaataactatcaCgtcgtgaaatattctttgga	13	15	8	5	2	2	1	1	1	1	0	3	3	2	3	0	2	1	1	0	2	7	7			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr4:62599226C>T	ENST00000512091.1	+	7	1896	c.1149C>T	c.(1147-1149)caC>caT	p.H383H	LPHN3_ENST00000506720.1_Silent_p.H451H|LPHN3_ENST00000514996.1_Silent_p.H383H|LPHN3_ENST00000508946.1_Silent_p.H383H|LPHN3_ENST00000504896.1_Silent_p.H383H|LPHN3_ENST00000509896.1_Silent_p.H451H|LPHN3_ENST00000545650.1_Silent_p.H383H|LPHN3_ENST00000514591.1_Silent_p.H383H|LPHN3_ENST00000508693.1_Silent_p.H451H|LPHN3_ENST00000507625.1_Silent_p.H451H|LPHN3_ENST00000506700.1_Silent_p.H383H|LPHN3_ENST00000507164.1_Silent_p.H451H|LPHN3_ENST00000506746.1_Silent_p.H451H|LPHN3_ENST00000511324.1_Silent_p.H451H|LPHN3_ENST00000514157.1_Silent_p.H383H			Q9HAR2	LPHN3_HUMAN	latrophilin 3	383	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ATAACTATCACGTCGTGAAAT	0.388													10	32					0	0	0.361761	0	0	T	62599226	C	T	62599226	2	4	67	1	0	0	0	0	0	0	0	1	8962	535	19	1		1	LPHN3	4	62599226	Silent	SNP	C	TCGA-EJ-7115-01A-11D-2114-08		62599226	128555050	15	3455											
PCDH18	54510	broad.mit.edu	37	chr4	138451634	138451634	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagtgatctgactcacttCttcatgatcaaagattctga	14	13	6	8	0	6	5	3	4	3	1	6	5	6	5	0	0	0	0	0	0	3	3			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr4:138451634C>A	ENST00000344876.4	-	1	1995	c.1609G>T	c.(1609-1611)Gaa>Taa	p.E537*	PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Nonsense_Mutation_p.E317*|PCDH18_ENST00000412923.2_Nonsense_Mutation_p.E537*	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	537	Cadherin 5.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TGACTCACTTCTTCATGATCA	0.418													48	132					1.22102e-19	1.47297e-19	0.870114	1	0	A	138451634	C	A	138451634	4	1	67	1	0	0	0	0	0	1	0	0	11560	922	32	4	1814	4	PCDH18	4	138451634	Nonsense_Mutation	SNP	C	TCGA-EJ-7115-01A-11D-2114-08	75852408	138451634	52702642	16	3456											
KLHL2	11275	broad.mit.edu	37	chr4	166234520	166234520	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accaggcggagtggagcaggTacatgtgaacctgttttagc	10	9	14	8	1	0	1	0	1	0	0	0	3	0	3	2	4	4	3	2	4	3	3			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr4:166234520T>C	ENST00000226725.6	+	12	1727		c.e12+2		KLHL2_ENST00000509028.1_Splice_Site|KLHL2_ENST00000538127.1_Splice_Site|KLHL2_ENST00000421009.2_Splice_Site|KLHL2_ENST00000514860.1_Splice_Site|KLHL2_ENST00000506761.1_Splice_Site	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2						intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		GTGGAGCAGGTACATGTGAAC	0.383													16	50					0	0	0.557998	0	0	C	166234520	T	C	166234520	5	2	67	1	0	0	0	0	0	0	1	0	8417	1652	57	3	1558	3	KLHL2	4	166234520	Splice_Site	SNP	T	TCGA-EJ-7115-01A-11D-2114-08	27782886	166234520	24919756	17	3457											
FRG1	2483	broad.mit.edu	37	chr4	190862186	190862186	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccgagtactcctacgtgAagtctaccaagctcgtgctc	8	10	10	13	3	1	1	0	1	1	0	4	2	2	1	3	1	5	3	3	1	5	3			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr4:190862186A>T	ENST00000226798.4	+	1	244	c.22A>T	c.(22-24)Aag>Tag	p.K8*	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	8	Lys-rich.				rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		CTCCTACGTGAAGTCTACCAA	0.637											OREG0016457	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	24					0	0	0.150653	0	0	T	190862186	A	T	190862186	4	4	67	1	0	0	0	0	0	1	0	0	6081	247	9	5	24	5	FRG1	4	190862186	Nonsense_Mutation	SNP	A	TCGA-EJ-7115-01A-11D-2114-08	24627666	190862186	292090	18	3458											
SLC25A46	91137	broad.mit.edu	37	chr5	110097209	110097209	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgccagtctttgttctgaCgttatactttacccattgga	7	16	8	10	1	2	1	0	1	2	0	2	2	2	2	2	1	3	3	2	1	3	7			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr5:110097209C>T	ENST00000355943.3	+	8	1110	c.984C>T	c.(982-984)gaC>gaT	p.D328D	SLC25A46_ENST00000513706.1_3'UTR|SLC25A46_ENST00000509442.2_Silent_p.D237D|SLC25A46_ENST00000509432.1_Silent_p.D115D|SLC25A46_ENST00000513807.1_Silent_p.D166D|SLC25A46_ENST00000504098.1_Silent_p.D182D|SLC25A46_ENST00000447245.2_Silent_p.D247D	NM_138773.1	NP_620128.1	Q96AG3	S2546_HUMAN	solute carrier family 25, member 46	328					transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)		TTTGTTCTGACGTTATACTTT	0.428													17	340					0	0	0.575678	0	0	T	110097209	C	T	110097209	2	4	67	1	0	0	0	0	0	0	0	1	14566	535	19	1		1	SLC25A46	5	110097209	Silent	SNP	C	TCGA-EJ-7115-01A-11D-2114-08		110097209	70818051	19	3459											
PCYOX1L	78991	broad.mit.edu	37	chr5	148747557	148747557	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgctcttttctttccagaGgggaaagccctgtaccaggt	7	13	11	10	0	2	1	0	0	2	1	3	2	3	2	3	3	3	2	3	3	2	4	rs34811631		TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr5:148747557G>A	ENST00000514349.1	+	5	1134	c.553_splice	c.e5-1	p.E185_splice	PCYOX1L_ENST00000274569.4_Splice_Site_p.E275_splice			Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	275					prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTTTCCAGAGGGGAAAGCCC	0.532											OREG0016912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	101					0	0	0.760397	0	0	A	148747557	G	A	148747557	5	1	67	1	0	0	0	0	0	0	1	0	11656	1014	35	2	847	2	PCYOX1L	5	148747557	Splice_Site	SNP	G	TCGA-EJ-7115-01A-11D-2114-08	38650348	148747557	32167703	20	3460											
FILIP1	27145	broad.mit.edu	37	chr6	76022647	76022647	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccaagagtagtatctccActtttttgtttttgaggcat	8	16	10	7	0	1	2	0	1	1	1	2	2	1	2	2	2	0	4	2	2	3	7			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr6:76022647A>C	ENST00000393004.2	-	5	3122	c.2901T>G	c.(2899-2901)agT>agG	p.S967R	FILIP1_ENST00000370020.1_Missense_Mutation_p.S868R|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.S967R			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	967										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TAGTATCTCCACTTTTTTGTT	0.413													40	94					0	0	0.812448	0	0	C	76022647	A	C	76022647	3	2	67	1	0	0	0	0	1	0	0	0	5927	156	6	5	748	5	FILIP1	6	76022647	Missense_Mutation	SNP	A	TCGA-EJ-7115-01A-11D-2114-08		76022647	95092420	21	3461											
MAP3K7	6885	broad.mit.edu	37	chr6	91226267	91226269	+	In_Frame_Del	DEL	GTT	GTT	-																															ctgacttctgatgacctctaGttgttttttgcattgctggt																										TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr6:91226267_91226269delGTT	ENST00000369329.3	-	17	1933_1935	c.1772_1774delAAC	c.(1771-1776)cta>c	p.QL591del	MAP3K7_ENST00000369332.3_In_Frame_Del_p.QL564del|MAP3K7_ENST00000479630.1_5'UTR|MAP3K7_ENST00000369325.3_3'UTR|MAP3K7_ENST00000369320.1_In_Frame_Del_p.QL245del|MAP3K7_ENST00000369327.3_3'UTR	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	591					activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		ATGACCTCTAGTTGTTTTTTGCA	0.374													18	107	---	---	---	---						-	91226269	GTT	-	91226267	7	5	67	1	0	1	0	1	0	0	0	0	9305	1020	36	0	50	0	MAP3K7	6	91226267	In_Frame_Del	DEL	GTT	TCGA-EJ-7115-01A-11D-2114-08	15203620	91226267	79888800	22	3462											
ASCC3	10973	broad.mit.edu	37	chr6	101098516	101098516	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attttcccataactattctcTacacctccaggagtggagag	11	12	7	11	0	1	1	0	0	1	1	4	3	3	2	3	2	2	0	3	2	3	6			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr6:101098516T>C	ENST00000369162.2	-	20	3494	c.3150A>G	c.(3148-3150)gtA>gtG	p.V1050V		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	1050	SEC63 1.		V -> I (in dbSNP:rs9497983).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		AACTATTCTCTACACCTCCAG	0.363													28	40					0	0	0.693898	0	0	C	101098516	T	C	101098516	2	2	67	1	0	0	0	0	0	0	0	1	1032	1509	53	3		3	ASCC3	6	101098516	Silent	SNP	T	TCGA-EJ-7115-01A-11D-2114-08	9872249	101098516	70016551	23	3463											
SNX13	23161	broad.mit.edu	37	chr7	17915291	17915291	+	Splice_Site	DEL	C	C	-																															caaatggaataaagatattaCctttcacttgatcatctttc																										TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr7:17915291delC	ENST00000409389.1	-	6	735		c.e6+1		SNX13_ENST00000428135.3_Splice_Site			Q9Y5W8	SNX13_HUMAN	sorting nexin 13						cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					AAAGATATTACCTTTCACTTG	0.313													5	9	---	---	---	---						-	17915291	C	-	17915291	8	5	67	1	0	1	0	1	0	0	1	0	14938	521	18	0	2394	0	SNX13	7	17915291	Splice_Site	DEL	C	TCGA-EJ-7115-01A-11D-2114-08		17915291	141223372	24	3464											
LRGUK	136332	broad.mit.edu	37	chr7	133827909	133827909	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aatttcaagccacccaaaaaCctcaaggtagactttatgaa	17	9	5	10	0	2	2	2	1	0	1	2	2	2	2	3	1	2	1	3	1	8	4			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr7:133827909C>A	ENST00000285928.2	+	4	651	c.582C>A	c.(580-582)aaC>aaA	p.N194K		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	194							ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						CACCCAAAAACCTCAAGGTAG	0.338													5	103					0.000602214	0.000663309	0.184627	1	0	A	133827909	C	A	133827909	3	1	67	1	0	0	0	0	1	0	0	0	8988	506	18	4	596	4	LRGUK	7	133827909	Missense_Mutation	SNP	C	TCGA-EJ-7115-01A-11D-2114-08	115912618	133827909	25310754	25	3465											
BLK	640	broad.mit.edu	37	chr8	11421593	11421607	+	In_Frame_Del	DEL	GCGGCAGTACGAGCT	GCGGCAGTACGAGCT	-																															gacttctacacggccaccgaGcggcagtacgagctgcagcc																										TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr8:11421593_11421607delGCGGCAGTACGAGCT	ENST00000259089.4	+	13	2086_2100	c.1494_1508delGCGGCAGTACGAGCT	c.(1492-1509)gag>ga	p.ERQYEL498del	BLK_ENST00000529894.1_In_Frame_Del_p.ERQYEL427del	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	498					intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		CGGCCACCGAGCGGCAGTACGAGCTGCAGCCCTAG	0.735													4	9	---	---	---	---						-	11421607	GCGGCAGTACGAGCT	-	11421593	7	5	67	1	0	1	0	1	0	0	0	0	1443	962	34	0	1540	0	BLK	8	11421593	In_Frame_Del	DEL	GCGGCAGTACGAGCT	TCGA-EJ-7115-01A-11D-2114-08		11421593	134942429	26	3466											
SPAG1	6674	broad.mit.edu	37	chr8	101206436	101206436	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggttattcaggaaatagaaAactccgaagatgaagaagga	18	8	11	4	1	1	4	1	1	0	3	2	7	2	6	1	3	1	1	1	3	8	3			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr8:101206436A>T	ENST00000388798.2	+	10	1227	c.1036A>T	c.(1036-1038)Aac>Tac	p.N346Y	SPAG1_ENST00000520643.1_Missense_Mutation_p.N346Y|SPAG1_ENST00000520508.1_Missense_Mutation_p.N346Y|SPAG1_ENST00000251809.3_Missense_Mutation_p.N346Y	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	346					single fertilization	cytoplasm	GTP binding|hydrolase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		GGAAATAGAAAACTCCGAAGA	0.373													9	20					0	0	0.335167	0	0	T	101206436	A	T	101206436	3	4	67	1	0	0	0	0	1	0	0	0	15031	14	1	5	1070	5	SPAG1	8	101206436	Missense_Mutation	SNP	A	TCGA-EJ-7115-01A-11D-2114-08	89784843	101206436	45157586	27	3467											
HSF1	3297	broad.mit.edu	37	chr8	145535738	145535738	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggaggcgagtcccgggcGcccatcttccgtggacaccc	7	5	14	15	4	1	1	0	0	1	1	3	4	3	3	4	4	0	0	4	4	0	1			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr8:145535738G>A	ENST00000528838.1	+	9	1110	c.950G>A	c.(949-951)cGc>cAc	p.R317H	HSF1_ENST00000400780.4_Missense_Mutation_p.R252H	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	317						cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			AGTCCCGGGCGCCCATCTTCC	0.697													14	35					0	0	0.457914	0	0	A	145535738	G	A	145535738	3	1	67	1	0	0	0	0	1	0	0	0	7436	1087	38	1	984	1	HSF1	8	145535738	Missense_Mutation	SNP	G	TCGA-EJ-7115-01A-11D-2114-08	44329302	145535738	828284	28	3468											
SCUBE2	57758	broad.mit.edu	37	chr11	9069059	9069059	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctgagcgtgcggatggcttTacggagccgcttctcggttc	4	12	14	11	5	2	1	0	1	2	0	4	3	2	3	1	4	4	3	1	4	1	4			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr11:9069059T>C	ENST00000457346.2	-	16	1920	c.1846A>G	c.(1846-1848)Aaa>Gaa	p.K616E	SCUBE2_ENST00000450649.2_Missense_Mutation_p.K461E|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000309263.3_Missense_Mutation_p.K587E|SCUBE2_ENST00000520467.1_Missense_Mutation_p.K616E			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	587						extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		CGGATGGCTTTACGGAGCCGC	0.567													15	62					0	0	0.457914	0	0	C	9069059	T	C	9069059	3	2	67	1	0	0	0	0	1	0	0	0	13999	1763	61	3	1272	3	SCUBE2	11	9069059	Missense_Mutation	SNP	T	TCGA-EJ-7115-01A-11D-2114-08		9069059	125937457	29	3469											
MRGPRX2	117194	broad.mit.edu	37	chr11	19077545	19077545	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggcggcggcagcgataccaGatgggccacaggacggacag	10	2	18	11	4	0	1	0	0	0	1	0	4	0	3	2	6	2	1	2	6	1	1			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr11:19077545G>C	ENST00000329773.2	-	2	492	c.405C>G	c.(403-405)atC>atG	p.I135M		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	135					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						AGCGATACCAGATGGGCCACA	0.617													7	108					0	0	0.27861	0	0	C	19077545	G	C	19077545	3	2	67	1	0	0	0	0	1	0	0	0	9816	932	33	4	591	4	MRGPRX2	11	19077545	Missense_Mutation	SNP	G	TCGA-EJ-7115-01A-11D-2114-08	10008486	19077545	115928971	30	3470											
ALX4	60529	broad.mit.edu	37	chr11	44289106	44289106	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcagtggagaagtgggttcGaacctgctgcatctgcccaa	9	9	13	10	1	1	1	0	0	1	1	2	3	1	1	2	2	5	4	2	2	3	1			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr11:44289106G>A	ENST00000329255.3	-	3	947	c.844C>T	c.(844-846)Cga>Tga	p.R282*		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	282					hair follicle development					central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						AAGTGGGTTCGAACCTGCTGC	0.602													33	87					0	0	0.760397	0	0	A	44289106	G	A	44289106	4	1	67	1	0	0	0	0	0	1	0	0	554	1066	37	1	399	1	ALX4	11	44289106	Nonsense_Mutation	SNP	G	TCGA-EJ-7115-01A-11D-2114-08	25211561	44289106	90717410	31	3471											
DGKZ	8525	broad.mit.edu	37	chr11	46396525	46396525	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggggccaccctggggagcAccacgactttgagccccagc	7	5	13	16	1	0	1	0	1	0	0	0	3	0	2	5	4	3	1	5	4	0	1			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr11:46396525A>G	ENST00000454345.1	+	20	2329	c.2204A>G	c.(2203-2205)cAc>cGc	p.H735R	DGKZ_ENST00000532868.2_Missense_Mutation_p.H551R|DGKZ_ENST00000456247.2_Missense_Mutation_p.H546R|DGKZ_ENST00000528615.1_Missense_Mutation_p.H325R|DGKZ_ENST00000421244.2_Missense_Mutation_p.H547R|DGKZ_ENST00000343674.6_Missense_Mutation_p.H563R|DGKZ_ENST00000395574.3_Missense_Mutation_p.H513R|DGKZ_ENST00000527911.1_Missense_Mutation_p.H547R|DGKZ_ENST00000318201.8_Missense_Mutation_p.H524R|DGKZ_ENST00000543978.1_Intron	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	735					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		CCTGGGGAGCACCACGACTTT	0.637													9	31					0	0	0.335167	0	0	G	46396525	A	G	46396525	3	3	67	1	0	0	0	0	1	0	0	0	4502	159	6	3	2725	3	DGKZ	11	46396525	Missense_Mutation	SNP	A	TCGA-EJ-7115-01A-11D-2114-08	2107419	46396525	88609991	32	3472											
RPS6KA4	8986	broad.mit.edu	37	chr11	64137784	64137784	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgagatcatgtgcaaaatcCgcgaggggcgcttctccctt	8	9	11	13	4	2	1	1	0	1	1	4	3	3	1	3	2	1	2	3	2	2	2			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr11:64137784C>T	ENST00000528057.1	+	15	1952	c.1864C>T	c.(1864-1866)Cgc>Tgc	p.R622C	RPS6KA4_ENST00000334205.4_Missense_Mutation_p.R629C|RPS6KA4_ENST00000294261.4_Missense_Mutation_p.R381C	NM_001006944.1	NP_001006945.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	629	Protein kinase 2.				axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						GTGCAAAATCCGCGAGGGGCG	0.657													15	118					0	0	0.479597	0	0	T	64137784	C	T	64137784	3	4	67	1	0	0	0	0	1	0	0	0	13705	652	23	1	1943	1	RPS6KA4	11	64137784	Missense_Mutation	SNP	C	TCGA-EJ-7115-01A-11D-2114-08	17741259	64137784	70868732	33	3473											
SIPA1	6494	broad.mit.edu	37	chr11	65410052	65410052	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgagccccagctgcctgcGcctgggctcagcttcaccca	5	7	11	18	1	2	1	2	1	0	0	2	1	2	1	5	1	5	4	5	1	0	1			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr11:65410052G>A	ENST00000394224.3	+	4	1222	c.926G>A	c.(925-927)cGc>cAc	p.R309H	SIPA1_ENST00000534313.1_Missense_Mutation_p.R309H|SIPA1_ENST00000527525.1_Missense_Mutation_p.R309H|SIPA1_ENST00000394227.3_Missense_Mutation_p.R309H	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	309					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						AGCTGCCTGCGCCTGGGCTCA	0.697													4	17					0	0	0.150653	0	0	A	65410052	G	A	65410052	3	1	67	1	0	0	0	0	1	0	0	0	14383	1087	38	1	936	1	SIPA1	11	65410052	Missense_Mutation	SNP	G	TCGA-EJ-7115-01A-11D-2114-08	1272268	65410052	69596464	34	3474											
PTPRO	5800	broad.mit.edu	37	chr12	15710429	15710429	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcaattttgcatccttaGagagggatggaaagcttcca	11	13	10	7	0	1	1	1	0	0	1	3	4	3	3	2	2	2	2	2	2	3	5			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr12:15710429G>T	ENST00000281171.4	+	16	2929	c.2599G>T	c.(2599-2601)Gag>Tag	p.E867*	PTPRO_ENST00000348962.2_Nonsense_Mutation_p.E867*|PTPRO_ENST00000445537.2_Nonsense_Mutation_p.E56*|PTPRO_ENST00000442921.2_Nonsense_Mutation_p.E56*|PTPRO_ENST00000542557.1_Nonsense_Mutation_p.E56*|PTPRO_ENST00000544244.1_Nonsense_Mutation_p.E56*	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	867						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				TGCATCCTTAGAGAGGGATGG	0.398													21	49					4.96729e-08	5.80791e-08	0.575678	1	0	T	15710429	G	T	15710429	4	4	67	1	0	0	0	0	0	1	0	0	12861	943	33	4	2661	4	PTPRO	12	15710429	Nonsense_Mutation	SNP	G	TCGA-EJ-7115-01A-11D-2114-08		15710429	118141466	35	3475											
FRY	10129	broad.mit.edu	37	chr13	32761791	32761791	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctggcttgtcaagatttaCgagtaagtataggcaaaaat	14	13	9	5	1	2	1	1	0	1	1	2	2	2	1	0	2	1	4	0	2	7	7			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr13:32761791C>T	ENST00000380250.3	+	28	4085	c.3589C>T	c.(3589-3591)Cga>Tga	p.R1197*		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1197					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TCAAGATTTACGAGTAAGTAT	0.413													20	27					0	0	0.575678	0	0	T	32761791	C	T	32761791	4	4	67	1	0	0	0	0	0	1	0	0	6098	528	19	1	3699	1	FRY	13	32761791	Nonsense_Mutation	SNP	C	TCGA-EJ-7115-01A-11D-2114-08		32761791	82408087	36	3476											
LECT1	11061	broad.mit.edu	37	chr13	53286893	53286893	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagaaaataggaaggtcacCgcagagttctaacaccttag	15	7	9	10	1	2	2	1	0	1	2	2	3	2	3	3	2	1	2	3	2	6	4			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr13:53286893C>G	ENST00000448904.2	-	5	690	c.580G>C	c.(580-582)Ggt>Cgt	p.G194R	LECT1_ENST00000377962.3_Missense_Mutation_p.G194R	NM_001011705.1|NM_007015.2	NP_001011705.1|NP_008946.1	O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1	194	BRICHOS.				cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		GGAAGGTCACCGCAGAGTTCT	0.398													32	66					0	0	0.750413	0	0	G	53286893	C	G	53286893	3	3	67	1	0	0	0	0	1	0	0	0	8751	652	23	4	436	4	LECT1	13	53286893	Missense_Mutation	SNP	C	TCGA-EJ-7115-01A-11D-2114-08	20525102	53286893	61882985	37	3477											
MYH6	4624	broad.mit.edu	37	chr14	23866021	23866021	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggccactgggttcaggatgCgatacctgaggagggaagtg	9	8	17	7	1	1	1	1	1	0	0	1	5	1	4	2	5	2	1	2	5	2	2			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr14:23866021C>T	ENST00000405093.3	-	19	2244	c.2174G>A	c.(2173-2175)cGc>cAc	p.R725H	MYH6_ENST00000356287.3_Missense_Mutation_p.R725H	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	725	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GTTCAGGATGCGATACCTGAG	0.547													5	70					0	0	0.184627	0	0	T	23866021	C	T	23866021	3	4	67	1	0	0	0	0	1	0	0	0	10086	768	27	1	3729	1	MYH6	14	23866021	Missense_Mutation	SNP	C	TCGA-EJ-7115-01A-11D-2114-08		23866021	83483519	38	3478											
LMAN1L	79748	broad.mit.edu	37	chr15	75105252	75105253	+	Frame_Shift_Del	DEL	CC	CC	-																															cttctcctcctgctcctggaCccccacagccctgagacggg																										TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr15:75105252_75105253delCC	ENST00000309664.5	+	1	196_197	c.57_58delCC	c.(55-60)gaccfs	p.DP19fs	LMAN1L_ENST00000379709.3_Frame_Shift_Del_p.DP19fs	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	19						ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGCTCCTGGACCCCCACAGCCC	0.609													34	133	---	---	---	---						-	75105253	CC	-	75105252	7	5	67	1	0	1	0	1	0	0	0	0	8878	506	18	0	59	0	LMAN1L	15	75105252	Frame_Shift_Del	DEL	CC	TCGA-EJ-7115-01A-11D-2114-08		75105252	27426140	39	3479											
CREBBP	1387	broad.mit.edu	37	chr16	3778439	3778451	+	Frame_Shift_Del	DEL	TTGCTGCTGCTGC	TTGCTGCTGCTGC	-																															tgctgttgttgctgctgctgTtgctgctgctgctgcagcag																								rs62636220	byFrequency	TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr16:3778439_3778451delTTGCTGCTGCTGC	ENST00000262367.5	-	31	7406_7418	c.6597_6609delGCAGCAGCAGCAA	c.(6595-6609)cafs	p.QQQQQ2209fs	CREBBP_ENST00000382070.3_Frame_Shift_Del_p.QQQQQ2171fs	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	2209	Poly-Gln.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		gctgctgctgttgctgctgctgctgcagcagct	0.606			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						17	36	---	---	---	---						-	3778451	TTGCTGCTGCTGC	-	3778439	7	5	67	1	0	1	0	1	0	0	0	0	3884	1722	60	0	723	0	CREBBP	16	3778439	Frame_Shift_Del	DEL	TTGCTGCTGCTGC	TCGA-EJ-7115-01A-11D-2114-08		3778439	86576314	40	3480											
EZH1	2145	broad.mit.edu	37	chr17	40865284	40865284	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcactgtctccttctttagTctcagccacagcagaggctg	7	12	9	13	0	4	1	2	0	3	1	6	1	4	1	2	1	2	2	2	1	1	3			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr17:40865284T>C	ENST00000428826.2	-	11	1268	c.1147A>G	c.(1147-1149)Act>Gct	p.T383A	EZH1_ENST00000415827.2_Missense_Mutation_p.T374A|EZH1_ENST00000435174.1_Missense_Mutation_p.T244A|EZH1_ENST00000590078.1_Missense_Mutation_p.T313A|EZH1_ENST00000585893.1_Missense_Mutation_p.T343A|EZH1_ENST00000592743.1_Missense_Mutation_p.T383A			Q92800	EZH1_HUMAN	enhancer of zeste homolog 1 (Drosophila)	383					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		CCTTCTTTAGTCTCAGCCACA	0.537													40	68					0	0	0.812448	0	0	C	40865284	T	C	40865284	3	2	67	1	0	0	0	0	1	0	0	0	5361	1667	58	3	1140	3	EZH1	17	40865284	Missense_Mutation	SNP	T	TCGA-EJ-7115-01A-11D-2114-08		40865284	40329926	41	3481											
SPOP	8405	broad.mit.edu	37	chr17	47696432	47696432	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgaatttcttgaatccccAgtctttgccttgcacaaacc	10	13	6	12	0	2	2	0	2	2	0	3	3	3	2	4	0	3	1	4	0	3	4			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr17:47696432A>C	ENST00000393331.3	-	7	861	c.391T>G	c.(391-393)Tgg>Ggg	p.W131G	SPOP_ENST00000504102.1_Missense_Mutation_p.W131G|SPOP_ENST00000503676.1_Missense_Mutation_p.W131G|SPOP_ENST00000393328.2_Missense_Mutation_p.W131G|SPOP_ENST00000347630.2_Missense_Mutation_p.W131G	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	131	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.W131G(2)|p.W131R(1)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TTGAATCCCCAGTCTTTGCCT	0.458										Prostate(2;0.17)			51	126					0	0	0.870114	0	0	C	47696432	A	C	47696432	3	2	67	1	0	0	0	0	1	0	0	0	15140	188	7	5	757	5	SPOP	17	47696432	Missense_Mutation	SNP	A	TCGA-EJ-7115-01A-11D-2114-08	6831148	47696432	33498778	42	3482											
GNAL	2774	broad.mit.edu	37	chr18	11881048	11881048	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccgcacttcacctgcgccGtggacacagagaacatccgc	10	5	9	17	4	1	1	1	0	0	1	2	3	2	2	4	1	2	1	4	1	1	1			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr18:11881048G>A	ENST00000334049.6	+	12	1899	c.1291G>A	c.(1291-1293)Gtg>Atg	p.V431M	GNAL_ENST00000423027.3_Missense_Mutation_p.V354M|GNAL_ENST00000602628.1_Missense_Mutation_p.V147M|GNAL_ENST00000535121.1_Missense_Mutation_p.V354M|GNAL_ENST00000269162.5_Missense_Mutation_p.V354M|GNAL_ENST00000535980.1_3'UTR	NM_182978.3	NP_892023.1	P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	354					activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						CACCTGCGCCGTGGACACAGA	0.607													16	23					0	0	0.500413	0	0	A	11881048	G	A	11881048	3	1	67	1	0	0	0	0	1	0	0	0	6549	1145	40	1	1486	1	GNAL	18	11881048	Missense_Mutation	SNP	G	TCGA-EJ-7115-01A-11D-2114-08		11881048	66196200	43	3483											
TCF4	6925	broad.mit.edu	37	chr18	52901781	52901781	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggtgaggccaacctacctCtgtaagggtcctggggtggg	6	9	16	10	0	1	1	0	1	1	0	2	1	2	1	4	6	2	1	4	6	3	2			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr18:52901781C>T	ENST00000354452.3	-	16	2095	c.1484G>A	c.(1483-1485)aGa>aAa	p.R495K	TCF4_ENST00000564403.2_Missense_Mutation_p.R501K|TCF4_ENST00000561992.1_Missense_Mutation_p.R365K|TCF4_ENST00000561831.3_Missense_Mutation_p.R335K|TCF4_ENST00000566279.1_Missense_Mutation_p.R435K|TCF4_ENST00000398339.1_Missense_Mutation_p.R597K|TCF4_ENST00000568740.1_Missense_Mutation_p.R470K|TCF4_ENST00000564228.1_Missense_Mutation_p.R424K|TCF4_ENST00000537856.3_Missense_Mutation_p.R365K|TCF4_ENST00000567880.1_Missense_Mutation_p.R435K|TCF4_ENST00000568673.1_Missense_Mutation_p.R471K|TCF4_ENST00000543082.1_Missense_Mutation_p.R453K|TCF4_ENST00000540999.1_Missense_Mutation_p.R471K|TCF4_ENST00000570287.2_Missense_Mutation_p.R335K|TCF4_ENST00000566286.1_Missense_Mutation_p.R492K|TCF4_ENST00000570177.2_Missense_Mutation_p.R365K|TCF4_ENST00000356073.4_Missense_Mutation_p.R495K|TCF4_ENST00000544241.2_Missense_Mutation_p.R424K|TCF4_ENST00000564999.1_Missense_Mutation_p.R495K|TCF4_ENST00000457482.3_Missense_Mutation_p.R335K|TCF4_ENST00000565018.2_Missense_Mutation_p.R495K|TCF4_ENST00000537578.1_Missense_Mutation_p.R471K	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	495					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		CAACCTACCTCTGTAAGGGTC	0.557											OREG0024990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	77					0	0	0.654019	0	0	T	52901781	C	T	52901781	3	4	67	1	0	0	0	0	1	0	0	0	15755	913	32	2	547	2	TCF4	18	52901781	Missense_Mutation	SNP	C	TCGA-EJ-7115-01A-11D-2114-08	41020733	52901781	25175467	44	3484											
CHERP	10523	broad.mit.edu	37	chr19	16643484	16643484	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgccccatcagccgtgatgCggttccggaggtggccggcc	4	7	16	14	4	1	1	1	1	0	0	2	2	2	2	6	5	3	1	6	5	0	1			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr19:16643484C>T	ENST00000546361.2	-	5	750	c.599G>A	c.(598-600)cGc>cAc	p.R200H	CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000198939.6_Missense_Mutation_p.R200H	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum protein	200	CID.				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						AGCCGTGATGCGGTTCCGGAG	0.632													4	69					0	0	0.150653	0	0	T	16643484	C	T	16643484	3	4	67	1	0	0	0	0	1	0	0	0	3358	768	27	1	2203	1	CHERP	19	16643484	Missense_Mutation	SNP	C	TCGA-EJ-7115-01A-11D-2114-08		16643484	42485499	45	3485											
NPHS1	4868	broad.mit.edu	37	chr19	36334480	36334480	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtggggtcctggagggcaCggatggtgggagcatctggt	6	8	20	7	1	1	0	0	0	1	0	2	3	2	3	1	8	1	2	1	8	0	0			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr19:36334480C>T	ENST00000378910.5	-	17	2227	c.2228G>A	c.(2227-2229)cGt>cAt	p.R743H	NPHS1_ENST00000353632.6_Missense_Mutation_p.R743H	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	743	Ig-like C2-type 7.		R -> C (in NPHS1; does not affect protein expression on the cell surface).		cell adhesion|excretion|muscle organ development	integral to plasma membrane		p.R743L(1)		NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTGGAGGGCACGGATGGTGGG	0.612													5	117					0	0	0.184627	0	0	T	36334480	C	T	36334480	3	4	67	1	0	0	0	0	1	0	0	0	10629	536	19	1	1549	1	NPHS1	19	36334480	Missense_Mutation	SNP	C	TCGA-EJ-7115-01A-11D-2114-08	19690996	36334480	22794503	46	3486											
ZNF576	79177	broad.mit.edu	37	chr19	44103389	44103389	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgcatcaacactacattcgGcatgcccggggggagctctg	8	8	12	13	2	2	0	1	0	1	0	3	1	2	1	1	4	5	3	1	4	2	2			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr19:44103389G>A	ENST00000336564.4	+	3	646	c.492G>A	c.(490-492)cgG>cgA	p.R164R	ZNF576_ENST00000533118.1_Silent_p.R164R|ZNF576_ENST00000529930.1_Silent_p.R164R|ZNF576_ENST00000391965.2_Silent_p.R164R|ZNF576_ENST00000528387.1_Silent_p.R164R|SRRM5_ENST00000526798.1_Intron|SRRM5_ENST00000607544.1_Intron|ZNF576_ENST00000525771.1_Silent_p.R164R	NM_001145347.1	NP_001138819.1	Q9H609	ZN576_HUMAN	zinc finger protein 576	164					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|prostate(1)	2		Prostate(69;0.0199)				ACTACATTCGGCATGCCCGGG	0.612													3	37					0	0	0.115264	0	0	A	44103389	G	A	44103389	2	1	67	1	0	0	0	0	0	0	0	1	18065	1190	42	2		2	ZNF576	19	44103389	Silent	SNP	G	TCGA-EJ-7115-01A-11D-2114-08	7768909	44103389	15025594	47	3487											
ZNF230	7773	broad.mit.edu	37	chr19	44515531	44515531	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaccacaatggagaaaactCatccaaatgtgaggactgtg	16	7	10	8	0	1	3	1	1	0	2	2	5	2	4	2	2	1	0	2	2	4	0			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr19:44515531C>A	ENST00000429154.2	+	5	1568	c.1340C>A	c.(1339-1341)tCa>tAa	p.S447*		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	447					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				GGAGAAAACTCATCCAAATGT	0.388													4	75					0.150653	0.161263	0.150653	1	0	A	44515531	C	A	44515531	4	1	67	1	0	0	0	0	0	1	0	0	17842	838	29	4	1354	4	ZNF230	19	44515531	Nonsense_Mutation	SNP	C	TCGA-EJ-7115-01A-11D-2114-08	412142	44515531	14613452	48	3488											
ADAMTS5	11096	broad.mit.edu	37	chr21	28306855	28306855	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcccctttccacaaggcGtcccttccaccgcaggcagc	6	9	7	19	2	1	0	0	0	1	0	5	0	4	0	6	2	1	2	6	2	1	3			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr21:28306855G>A	ENST00000284987.5	-	4	1740	c.1619C>T	c.(1618-1620)aCg>aTg	p.T540M	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	540	Disintegrin.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						TCCACAAGGCGTCCCTTCCAC	0.522													14	74					0	0	0.500413	0	0	A	28306855	G	A	28306855	3	1	67	1	0	0	0	0	1	0	0	0	268	1145	40	1	1193	1	ADAMTS5	21	28306855	Missense_Mutation	SNP	G	TCGA-EJ-7115-01A-11D-2114-08		28306855	19823040	49	3489											
PMM1	5372	broad.mit.edu	37	chr22	41980560	41980560	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagcagtcgtccgtgcttatActgcaccgtcccgttctcgg	5	11	11	14	5	1	0	0	0	1	0	5	1	3	0	3	1	4	4	3	1	2	3			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr22:41980560A>C	ENST00000216259.7	-	3	337	c.253T>G	c.(253-255)Tat>Gat	p.Y85D	PMM1_ENST00000466645.1_5'UTR	NM_002676.2	NP_002667.2	Q92871	PMM1_HUMAN	phosphomannomutase 1	85					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	metal ion binding|phosphomannomutase activity			NS(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(2)	11						CCGTGCTTATACTGCACCGTC	0.542													4	91					0	0	0.150653	0	0	C	41980560	A	C	41980560	3	2	67	1	0	0	0	0	1	0	0	0	12184	391	14	5	559	5	PMM1	22	41980560	Missense_Mutation	SNP	A	TCGA-EJ-7115-01A-11D-2114-08		41980560	9324006	50	3490											
PLXNB3	5365	broad.mit.edu	37	chrX	153039436	153039436	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgtgcaagtggacttcgcCagtgccagtgggggccaggg	8	6	17	10	2	0	0	0	0	0	0	1	1	0	1	3	4	3	1	3	4	2	1			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chrX:153039436C>T	ENST00000538966.1	+	21	3742	c.3471C>T	c.(3469-3471)gcC>gcT	p.A1157A	PLXNB3_ENST00000361971.5_Silent_p.A1134A|PLXNB3_ENST00000538282.1_Silent_p.A744A|PLXNB3_ENST00000538776.1_Silent_p.A787A	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	1134					axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGACTTCGCCAGTGCCAGTG	0.692													28	24					0	0	0.729181	0	0	T	153039436	C	T	153039436	2	4	67	1	0	0	0	0	0	0	0	1	12173	581	21	2		2	PLXNB3	23	153039436	Silent	SNP	C	TCGA-EJ-7115-01A-11D-2114-08		153039436	2231124	51	3491											
PRAMEF22	653606	broad.mit.edu	37	chr1	13036267	13036267	+	Frame_Shift_Del	DEL	T	T	-																															ttgcgggatgttgatgagaaTttttggaccatatggtctgg																										TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	a4dd9f7b-e2a7-40f3-8e19-667f7fd42150	g.chr1:13036267delT	ENST00000376187.1	+	2	339	c.339delT	c.(337-339)aafs	p.N113fs	PRAMEF6_ENST00000376192.5_Intron	NM_001100631.1	NP_001094101.1	A3QJZ6	PRA22_HUMAN	PRAME family member 22	113										kidney(1)|large_intestine(2)|lung(1)|skin(1)	5						TTGATGAGAATTTTTGGACCA	0.537													7	359	---	---	---	---						-	13036267	T	-	13036267	7	5	68	1	0	1	0	1	0	0	0	0	12487	1490	52	0	345	0	PRAMEF22	1	13036267	Frame_Shift_Del	DEL	T	TCGA-EJ-7123-01A-11D-1961-08		13036267	236214354	1	3492											
MAGOH	4116	broad.mit.edu	37	chr1	53692751	53692752	+	Frame_Shift_Del	DEL	AG	AG	-																															tcttgaagtgtaatccaataAgactgaagaccaaacacttc																										TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr1:53692751_53692752delAG	ENST00000371470.3	-	5	567_568	c.406_407delCT	c.(406-408)tfs	p.L136fs	MAGOH_ENST00000371466.4_Frame_Shift_Del_p.L99fs	NM_002370.3	NP_002361.1	P61326	MGN_HUMAN	mago-nashi homolog, proliferation-associated (Drosophila)	136					mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	protein binding|RNA binding			haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	6						TAATCCAATAAGACTGAAGACC	0.376													8	34	---	---	---	---						-	53692752	AG	-	53692751	7	5	68	1	0	1	0	1	0	0	0	0	9244	72	3	0	37	0	MAGOH	1	53692751	Frame_Shift_Del	DEL	AG	TCGA-EJ-7123-01A-11D-1961-08	40656484	53692751	195557870	2	3493											
HFM1	164045	broad.mit.edu	37	chr1	91851252	91851252	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atttgcagaatactgaaattTttgcttactattgctatagt	12	18	6	5	0	0	2	0	1	0	1	0	2	0	2	0	0	5	3	0	0	7	9			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr1:91851252T>C	ENST00000370425.3	-	5	732	c.634A>G	c.(634-636)Aaa>Gaa	p.K212E	HFM1_ENST00000370424.3_Intron|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	212							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TACTGAAATTTTTGCTTACTA	0.343													7	43					0	0	0.00307968	0	0	C	91851252	T	C	91851252	3	2	68	1	0	0	0	0	1	0	0	0	7124	1850	64	3	3813	3	HFM1	1	91851252	Missense_Mutation	SNP	T	TCGA-EJ-7123-01A-11D-1961-08	38158501	91851252	157399369	3	3494											
GJA8	2703	broad.mit.edu	37	chr1	147380335	147380335	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgctgcagatcatcttcGtctccaccccgtccctgatg	5	11	10	15	2	3	2	1	1	2	1	6	2	4	2	4	1	2	2	4	1	0	1			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr1:147380335G>A	ENST00000240986.4	+	2	306	c.253G>A	c.(253-255)Gtc>Atc	p.V85I	GJA8_ENST00000369235.1_Missense_Mutation_p.V85I	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	85					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GATCATCTTCGTCTCCACCCC	0.637													10	80					0	0	0.00136819	0	0	A	147380335	G	A	147380335	3	1	68	1	0	0	0	0	1	0	0	0	6447	1145	40	1	255	1	GJA8	1	147380335	Missense_Mutation	SNP	G	TCGA-EJ-7123-01A-11D-1961-08	55529083	147380335	101870286	4	3495											
FCRL3	115352	broad.mit.edu	37	chr1	157648602	157648602	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagcctcccctgcagagtcGtctgggtgtgtcttcttcag	4	13	11	13	1	4	1	1	0	3	1	6	1	5	1	3	1	2	1	3	1	1	3	rs148976786	byFrequency	TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr1:157648602G>A	ENST00000368184.3	-	15	2394	c.2103C>T	c.(2101-2103)gaC>gaT	p.D701D	FCRL3_ENST00000368186.5_Silent_p.D701D|FCRL3_ENST00000473231.1_5'UTR	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	701						integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					CTGCAGAGTCGTCTGGGTGTG	0.468													8	51					0	0	0.00307968	0	0	A	157648602	G	A	157648602	2	1	68	1	0	0	0	0	0	0	0	1	5829	1136	40	1		1	FCRL3	1	157648602	Silent	SNP	G	TCGA-EJ-7123-01A-11D-1961-08	10268267	157648602	91602019	5	3496											
CD46	4179	broad.mit.edu	37	chr1	207940420	207940420	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatcaggatttggaaaaaaaTtttactacaaagcaacagtt	18	12	6	5	0	1	0	1	0	0	0	1	2	1	2	0	2	4	2	0	2	8	6			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr1:207940420T>A	ENST00000358170.2	+	6	892	c.736T>A	c.(736-738)Ttt>Att	p.F246I	CD46_ENST00000367041.1_Missense_Mutation_p.F246I|CD46_ENST00000354848.1_Missense_Mutation_p.F246I|CD46_ENST00000367042.1_Missense_Mutation_p.F246I|CD46_ENST00000360212.2_Missense_Mutation_p.F246I|CD46_ENST00000357714.1_Missense_Mutation_p.F246I|CD46_ENST00000361067.1_Missense_Mutation_p.F246I|CD46_ENST00000441839.2_Missense_Mutation_p.F246I|CD46_ENST00000322875.4_Missense_Mutation_p.F246I|CD46_ENST00000480003.1_Missense_Mutation_p.F246I|CD46_ENST00000367047.1_Missense_Mutation_p.F183I|CD46_ENST00000322918.5_Missense_Mutation_p.F246I|CD46_ENST00000469535.1_3'UTR	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	246	Sushi 4.				complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						TGGAAAAAAATTTTACTACAA	0.378													10	45					0	0	0.000673444	0	0	A	207940420	T	A	207940420	3	1	68	1	0	0	0	0	1	0	0	0	3040	1493	52	5	758	5	CD46	1	207940420	Missense_Mutation	SNP	T	TCGA-EJ-7123-01A-11D-1961-08	50291818	207940420	41310201	6	3497											
LONRF2	164832	broad.mit.edu	37	chr2	100916210	100916210	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atttttccaggggcgttcagGtcaggtgcatcctccacgtc	6	12	11	12	2	2	0	2	0	0	0	6	0	5	0	3	4	1	2	3	4	0	3			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr2:100916210G>C	ENST00000393437.3	-	5	1875	c.1236C>G	c.(1234-1236)gaC>gaG	p.D412E	LONRF2_ENST00000409647.1_Missense_Mutation_p.D169E	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	412					proteolysis		ATP-dependent peptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						GGGCGTTCAGGTCAGGTGCAT	0.448													9	94					0	0	0.000673444	0	0	C	100916210	G	C	100916210	3	2	68	1	0	0	0	0	1	0	0	0	8940	1252	44	4	1060	4	LONRF2	2	100916210	Missense_Mutation	SNP	G	TCGA-EJ-7123-01A-11D-1961-08		100916210	142283163	7	3498											
WDR33	55339	broad.mit.edu	37	chr2	128474753	128474753	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggggccaggtccttgtcCggggttcagagggggaatgc	5	9	19	8	1	1	1	1	0	0	1	3	2	3	2	3	7	1	2	3	7	1	3			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr2:128474753C>T	ENST00000322313.4	-	17	3003	c.2845G>A	c.(2845-2847)Gga>Aga	p.G949R		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	949					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GGTCCTTGTCCGGGGTTCAGA	0.478													3	19					0	0	6.4e-05	0	0	T	128474753	C	T	128474753	3	4	68	1	0	0	0	0	1	0	0	0	17347	661	23	1	1189	1	WDR33	2	128474753	Missense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	27558543	128474753	114724620	8	3499											
DNAH7	56171	broad.mit.edu	37	chr2	196737068	196737068	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacacgggagaaatcacggAggttgaacaagtagtgagat	15	7	14	5	2	1	4	1	3	0	2	1	7	1	5	0	3	1	2	0	3	4	2			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr2:196737068A>C	ENST00000312428.6	-	40	6639	c.6539T>G	c.(6538-6540)cTc>cGc	p.L2180R		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2180	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GAAATCACGGAGGTTGAACAA	0.398													3	96					0	0	6.4e-05	0	0	C	196737068	A	C	196737068	3	2	68	1	0	0	0	0	1	0	0	0	4633	304	11	5	5639	5	DNAH7	2	196737068	Missense_Mutation	SNP	A	TCGA-EJ-7123-01A-11D-1961-08	68262315	196737068	46462305	9	3500											
MRPS25	64432	broad.mit.edu	37	chr3	15094107	15094108	+	Frame_Shift_Ins	INS	-	-	T																															tggctgggtgagaaagctgcINStttttctcctcctcctcttc																										TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr3:15094107_15094108insT	ENST00000253686.2	-	4	502_503	c.362_363insA	c.(361-363)acafs	p.T121fs	MRPS25_ENST00000449354.2_Intron|MRPS25_ENST00000444840.2_Frame_Shift_Ins_p.Q92fs	NM_022497.3	NP_071942.1	P82663	RT25_HUMAN	mitochondrial ribosomal protein S25	121					translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			large_intestine(1)|lung(1)	2						GAGAAAGCTGCTTTTTCTCCTC	0.579													16	261	---	---	---	---						T	15094108	-	T	15094107	7	5	68	1	0	1	1	0	0	0	0	0	9885	796	28	0	162	0	MRPS25	3	15094107	Frame_Shift_Ins	INS	-	TCGA-EJ-7123-01A-11D-1961-08		15094107	182928323	10	3501											
OXSR1	9943	broad.mit.edu	37	chr3	38292947	38292947	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgctggcctggtcgacggaAgggatttagtaataggtaac	10	10	14	7	2	0	0	0	0	0	0	1	3	0	2	1	5	2	3	1	5	5	5			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr3:38292947A>G	ENST00000311806.3	+	16	1801	c.1429A>G	c.(1429-1431)Agg>Ggg	p.R477G		NM_005109.2	NP_005100.1	O95747	OXSR1_HUMAN	oxidative stress responsive 1	477					intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GGTCGACGGAAGGGATTTAGT	0.458													6	230					0	0	0.00198382	0	0	G	38292947	A	G	38292947	3	3	68	1	0	0	0	0	1	0	0	0	11383	63	3	3	1491	3	OXSR1	3	38292947	Missense_Mutation	SNP	A	TCGA-EJ-7123-01A-11D-1961-08	23198840	38292947	159729483	11	3502											
CP	1356	broad.mit.edu	37	chr3	148896263	148896263	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttactttctcggggtgatcAgagtatgttttgatgttgtc	6	19	11	5	1	2	3	1	2	1	1	4	3	2	3	0	2	1	3	0	2	2	7			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr3:148896263A>G	ENST00000264613.6	-	16	3079	c.2817T>C	c.(2815-2817)tcT>tcC	p.S939S		NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	939	F5/8 type A 3.|Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	CGGGGTGATCAGAGTATGTTT	0.323													6	94					0	0	0.00198382	0	0	G	148896263	A	G	148896263	2	3	68	1	0	0	0	0	0	0	0	1	3810	175	7	3		3	CP	3	148896263	Silent	SNP	A	TCGA-EJ-7123-01A-11D-1961-08	110603316	148896263	49126167	12	3503											
P2RY14	9934	broad.mit.edu	37	chr3	150931786	150931786	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaaagaacacaatgctgaCgtacatgttgacgtagaaga	16	7	9	9	2	0	5	0	2	0	3	0	5	0	5	1	0	3	4	1	0	6	3			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr3:150931786C>T	ENST00000309170.3	-	3	631	c.319G>A	c.(319-321)Gtc>Atc	p.V107I	P2RY14_ENST00000424796.2_Missense_Mutation_p.V107I|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_001081455.1|NM_014879.3	NP_001074924.1|NP_055694.3	Q15391	P2Y14_HUMAN	purinergic receptor P2Y, G-protein coupled, 14	107						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled|UDP-activated nucleotide receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ACAATGCTGACGTACATGTTG	0.453													8	39					0	0	0.000274275	0	0	T	150931786	C	T	150931786	3	4	68	1	0	0	0	0	1	0	0	0	11398	536	19	1	701	1	P2RY14	3	150931786	Missense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	2035523	150931786	47090644	13	3504											
CRMP1	1400	broad.mit.edu	37	chr4	5862782	5862782	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcccgcccaccagtgccGccctggtcccttggaagaag	6	7	12	16	2	0	1	0	0	0	1	2	2	2	2	6	3	1	0	6	3	2	1			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr4:5862782G>A	ENST00000324989.7	-	3	714	c.626C>T	c.(625-627)gCg>gTg	p.A209V	CRMP1_ENST00000397890.2_Missense_Mutation_p.A95V|CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000512574.1_Missense_Mutation_p.A93V	NM_001014809.1	NP_001014809.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	95					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		CACCAGTGCCGCCCTGGTCCC	0.582													12	48					0	0	0.00244969	0	0	A	5862782	G	A	5862782	3	1	68	1	0	0	0	0	1	0	0	0	3913	1087	38	1	1482	1	CRMP1	4	5862782	Missense_Mutation	SNP	G	TCGA-EJ-7123-01A-11D-1961-08		5862782	185291494	14	3505											
SORCS2	57537	broad.mit.edu	37	chr4	7684513	7684513	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggcaaaccaaaaaattgAtgggaaagtgatgacgctta	16	8	10	7	1	0	3	0	3	0	0	0	4	0	4	2	2	1	2	2	2	6	2			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr4:7684513A>T	ENST00000507866.2	+	10	1494	c.1385A>T	c.(1384-1386)gAt>gTt	p.D462V	SORCS2_ENST00000329016.9_Missense_Mutation_p.D290V	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	462						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						CAAAAAATTGATGGGAAAGTG	0.468													7	25					0	0	0.00198382	0	0	T	7684513	A	T	7684513	3	4	68	1	0	0	0	0	1	0	0	0	14985	333	12	5	1423	5	SORCS2	4	7684513	Missense_Mutation	SNP	A	TCGA-EJ-7123-01A-11D-1961-08	1821731	7684513	183469763	15	3506											
N4BP2	55728	broad.mit.edu	37	chr4	40119567	40119567	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgttttgtttcagtgccaatAattatgagttcttcggttcc	7	18	8	8	2	2	1	1	1	1	0	4	1	3	1	2	1	1	4	2	1	3	8			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr4:40119567A>G	ENST00000261435.6	+	8	2159	c.1743A>G	c.(1741-1743)atA>atG	p.I581M		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	581						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						CAGTGCCAATAATTATGAGTT	0.358													17	51					0	0	0.000566183	0	0	G	40119567	A	G	40119567	3	3	68	1	0	0	0	0	1	0	0	0	10158	352	13	3	1765	3	N4BP2	4	40119567	Missense_Mutation	SNP	A	TCGA-EJ-7123-01A-11D-1961-08	32435054	40119567	151034709	16	3507											
DDX60L	91351	broad.mit.edu	37	chr4	169337892	169337892	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accaaaaagggacatcgaatAatgacaaggaggagctccca	18	4	10	9	1	0	1	0	1	0	0	2	5	1	4	2	3	1	1	2	3	5	1			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr4:169337892A>C	ENST00000511577.1	-	20	2914	c.2667T>G	c.(2665-2667)atT>atG	p.I889M	DDX60L_ENST00000505890.1_Missense_Mutation_p.I889M|DDX60L_ENST00000260184.7_Missense_Mutation_p.I889M			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	889	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		GACATCGAATAATGACAAGGA	0.358													15	84					0	0	0.000566183	0	0	C	169337892	A	C	169337892	3	2	68	1	0	0	0	0	1	0	0	0	4402	358	13	5	2529	5	DDX60L	4	169337892	Missense_Mutation	SNP	A	TCGA-EJ-7123-01A-11D-1961-08	129218325	169337892	21816384	17	3508											
ADAMTS16	170690	broad.mit.edu	37	chr5	5186169	5186169	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgtccctccatagacatGccccagcctcccaaggaaga	11	7	8	15	0	0	2	0	0	0	2	3	3	3	3	6	1	2	0	6	1	3	1			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr5:5186169G>A	ENST00000274181.7	+	5	906	c.768G>A	c.(766-768)atG>atA	p.M256I	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.M256I	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	256					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CCATAGACATGCCCCAGCCTC	0.468													37	190					0	0	0.00285205	0	0	A	5186169	G	A	5186169	3	1	68	1	0	0	0	0	1	0	0	0	260	1319	46	2	786	2	ADAMTS16	5	5186169	Missense_Mutation	SNP	G	TCGA-EJ-7123-01A-11D-1961-08		5186169	175729091	18	3509											
CDH9	1007	broad.mit.edu	37	chr5	26886127	26886127	+	Frame_Shift_Del	DEL	T	T	-																															agagtaaattctggcactggTtcaaaaaagaatttgtgacc																										TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr5:26886127delT	ENST00000231021.4	-	10	1750	c.1578delA	c.(1576-1578)gafs	p.E526fs		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	526	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CTGGCACTGGTTCAAAAAAGA	0.313													33	171	---	---	---	---						-	26886127	T	-	26886127	7	5	68	1	0	1	0	1	0	0	0	0	3139	1722	60	0	803	0	CDH9	5	26886127	Frame_Shift_Del	DEL	T	TCGA-EJ-7123-01A-11D-1961-08	21699958	26886127	154029133	19	3510											
PCDHGA10	0	broad.mit.edu	37	chr5	140795088	140795088	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcccaattatgcggacacGctcatcagccaggagagctg	11	6	11	13	2	2	1	2	0	0	1	2	3	2	2	2	2	4	2	2	2	2	1			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr5:140795088G>A	ENST00000398610.2	+	1	2346	c.2346G>A	c.(2344-2346)acG>acA	p.T782T	PCDHGA3_ENST00000253812.6_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1														breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCGGACACGCTCATCAGCC	0.507													18	122					0	0	0.00121646	0	0	A	140795088	G	A	140795088	2	1	68	1	0	0	0	0	0	0	0	1	11598	1074	38	1		1	PCDHGA10	5	140795088	Silent	SNP	G	TCGA-EJ-7123-01A-11D-1961-08	113908961	140795088	40120172	20	3511											
FBXW11	23291	broad.mit.edu	37	chr5	171318481	171318481	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtcattcaccttaatagaaTtatctcgtaggccactgata	13	13	6	9	1	3	2	2	1	1	1	4	2	3	2	2	1	0	1	2	1	6	6			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr5:171318481T>C	ENST00000296933.6	-	6	1110	c.740A>G	c.(739-741)aAt>aGt	p.N247S	FBXW11_ENST00000425623.2_Missense_Mutation_p.N228S|FBXW11_ENST00000393802.2_Missense_Mutation_p.N226S|FBXW11_ENST00000265094.5_Missense_Mutation_p.N260S|FBXW11_ENST00000522891.1_5'UTR	NM_033644.2|NM_033645.2	NP_387448.2|NP_387449.2	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11	260					cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	centrosome|cytosol|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTTAATAGAATTATCTCGTAG	0.348													7	44					0	0	0.000274275	0	0	C	171318481	T	C	171318481	3	2	68	1	0	0	0	0	1	0	0	0	5797	1493	52	3	877	3	FBXW11	5	171318481	Missense_Mutation	SNP	T	TCGA-EJ-7123-01A-11D-1961-08	30523393	171318481	9596779	21	3512											
ADAMTS2	9509	broad.mit.edu	37	chr5	178634552	178634552	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caggtacttctgtacgtgctCcttcccgtggaactgcacca	7	11	9	14	2	1	0	0	0	1	0	3	1	3	1	3	2	5	4	3	2	3	4			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr5:178634552C>T	ENST00000251582.7	-	4	954	c.853G>A	c.(853-855)Gag>Aag	p.E285K	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.E285K	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	285	Peptidase M12B.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TGTACGTGCTCCTTCCCGTGG	0.637													9	128					0	0	0.000442599	0	0	T	178634552	C	T	178634552	3	4	68	1	0	0	0	0	1	0	0	0	264	864	30	2	2933	2	ADAMTS2	5	178634552	Missense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	7316071	178634552	2280708	22	3513											
FAM50B	26240	broad.mit.edu	37	chr6	3850540	3850540	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gaggaggaggagaaccggctCcgagaggagctgcgccaaga	12	2	18	9	3	0	3	0	0	0	3	1	9	1	6	3	5	3	2	3	5	2	0			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr6:3850540C>G	ENST00000380274.1	+	1	921	c.495C>G	c.(493-495)ctC>ctG	p.L165L	FAM50B_ENST00000380272.3_Silent_p.L165L			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	165						nucleus				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				AGAACCGGCTCCGAGAGGAGC	0.687													6	47					0	0	0.00116845	0	0	G	3850540	C	G	3850540	2	3	68	1	0	0	0	0	0	0	0	1	5614	842	30	4		4	FAM50B	6	3850540	Silent	SNP	C	TCGA-EJ-7123-01A-11D-1961-08		3850540	167264527	23	3514											
E2F3	1871	broad.mit.edu	37	chr6	20486928	20486928	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacactctttacgttagcttAtgttacatatcaagatattc	12	16	5	8	1	2	1	1	0	1	1	3	2	2	1	0	0	3	3	0	0	7	8			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr6:20486928A>G	ENST00000346618.3	+	5	959	c.893A>G	c.(892-894)tAt>tGt	p.Y298C	E2F3_ENST00000535432.1_Missense_Mutation_p.Y167C	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	E2F transcription factor 3	298	Dimerization (Potential).				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			ACGTTAGCTTATGTTACATAT	0.333													7	44					0	0	0.00307968	0	0	G	20486928	A	G	20486928	3	3	68	1	0	0	0	0	1	0	0	0	4894	449	16	3	911	3	E2F3	6	20486928	Missense_Mutation	SNP	A	TCGA-EJ-7123-01A-11D-1961-08	16636388	20486928	150628139	24	3515											
TNXB	7148	broad.mit.edu	37	chr6	32037543	32037543	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgtccaggagaggcccaCggagttctgggtcacggtgg	7	7	17	10	2	2	1	1	0	1	1	3	4	3	2	2	6	0	1	2	6	0	1			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr6:32037543C>T	ENST00000375244.3	-	15	5575	c.5374G>A	c.(5374-5376)Gtg>Atg	p.V1792M	TNXB_ENST00000375247.2_Missense_Mutation_p.V1792M			P22105	TENX_HUMAN	tenascin XB	1874	Fibronectin type-III 10.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GAGAGGCCCACGGAGTTCTGG	0.622													8	22					0	0	0.000274275	0	0	T	32037543	C	T	32037543	3	4	68	1	0	0	0	0	1	0	0	0	16406	536	19	1	9459	1	TNXB	6	32037543	Missense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	11550615	32037543	139077524	25	3516											
FAM120B	84498	broad.mit.edu	37	chr6	170639605	170639605	+	Missense_Mutation	SNP	G	G	T																															ggaacccactgaggcacccgGacctcgtcaggccgctgcag																										TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr6:170639605G>T	ENST00000476287.1	+	4	2092	c.1984G>T	c.(1984-1986)Gac>Tac	p.D662Y	FAM120B_ENST00000540480.1_Missense_Mutation_p.D674Y|FAM120B_ENST00000537664.1_Missense_Mutation_p.D685Y|FAM120B_ENST00000252510.9_5'UTR	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	662					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		GAGGCACCCGGACCTCGTCAG	0.483													9	83					5.16669e-11	2.73096e-10	0.000978159	1	0	T	170639605	G	T	170639605	3	4	68	1	0	0	0	0	1	0	0	0	5448	1174	41	4	1994	4	FAM120B	6	170639605	Missense_Mutation	SNP	G	TCGA-EJ-7123-01A-11D-1961-08	138602062	170639605	475462	26	3517	17	2									
FAM120B	84498	broad.mit.edu	37	chr6	170639606	170639606	+	Missense_Mutation	SNP	A	A	T																															gaacccactgaggcacccggAcctcgtcaggccgctgcaga																										TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr6:170639606A>T	ENST00000476287.1	+	4	2093	c.1985A>T	c.(1984-1986)gAc>gTc	p.D662V	FAM120B_ENST00000540480.1_Missense_Mutation_p.D674V|FAM120B_ENST00000537664.1_Missense_Mutation_p.D685V|FAM120B_ENST00000252510.9_5'UTR	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	662					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		AGGCACCCGGACCTCGTCAGG	0.483													9	83					0	0	0.000978159	0	0	T	170639606	A	T	170639606	3	4	68	1	0	0	0	0	1	0	0	0	5448	275	10	5	1995	5	FAM120B	6	170639606	Missense_Mutation	SNP	A	TCGA-EJ-7123-01A-11D-1961-08	1	170639606	475461	27	3518	17	2									
STAG3L2	0	broad.mit.edu	37	chr7	74306378	74306378	+	RNA	DEL	C	C	-																															cgtgcgcagtgggcggggggCcccgcgctcctacctgcaag																										TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr7:74306378delC	ENST00000423186.1	-	0	296							P0CL84	ST3L2_HUMAN								nucleus	binding			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						GGGCGGGGGGCCCCGCGCTCC	0.731													4	5	---	---	---	---						-	74306378	C	-	74306378	6	5	68	0	1	1	0	1	0	0	0	0	15301	754	26	0		0	STAG3L2	7	74306378	RNA	DEL	C	TCGA-EJ-7123-01A-11D-1961-08		74306378	84832285	28	3519											
ZNF789	285989	broad.mit.edu	37	chr7	99079801	99079801	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagtttatttccagtttgAtgctgcaataccactgtgct	8	17	7	9	0	1	1	1	1	0	0	2	1	2	1	2	0	4	5	2	0	3	6			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr7:99079801A>C	ENST00000379724.3	+	4	366	c.167A>C	c.(166-168)gAt>gCt	p.D56A	ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000483089.1_3'UTR|ZNF789_ENST00000331410.5_Intron|ZNF789_ENST00000448667.1_Intron	NM_001013258.1	NP_001013276.1	Q5FWF6	ZN789_HUMAN	zinc finger protein 789	55	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					ttccagtttgatgctgcaata	0.378													11	49					0	0	0.000978159	0	0	C	99079801	A	C	99079801	3	2	68	1	0	0	0	0	1	0	0	0	18209	333	12	5	177	5	ZNF789	7	99079801	Missense_Mutation	SNP	A	TCGA-EJ-7123-01A-11D-1961-08	24773423	99079801	60058862	29	3520											
ZNF3	7551	broad.mit.edu	37	chr7	99669788	99669788	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagtaggaccccatgtgatcTtgtgtcttcagaaatttctt	9	15	8	9	0	4	2	1	1	3	1	4	3	4	3	2	1	0	1	2	1	2	5			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr7:99669788T>C	ENST00000303915.6	-	5	1286	c.319A>G	c.(319-321)Aga>Gga	p.R107G	ZNF3_ENST00000413658.2_Intron|ZNF3_ENST00000424697.1_Missense_Mutation_p.R107G|ZNF3_ENST00000299667.4_Missense_Mutation_p.R107G			P17036	ZNF3_HUMAN	zinc finger protein 3	107	KRAB.				cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			CCATGTGATCTTGTGTCTTCA	0.403													16	81					0	0	0.00074312	0	0	C	99669788	T	C	99669788	3	2	68	1	0	0	0	0	1	0	0	0	17886	1617	56	3	1154	3	ZNF3	7	99669788	Missense_Mutation	SNP	T	TCGA-EJ-7123-01A-11D-1961-08	589987	99669788	59468875	30	3521											
ORAI2	80228	broad.mit.edu	37	chr7	102087367	102087367	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgcccgtgggcctcatcttCgtggtcttcaccatccactt	4	13	9	15	2	4	0	2	0	2	0	6	0	5	0	4	2	1	0	4	2	0	3	rs144660402		TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr7:102087367C>T	ENST00000356387.2	+	4	868	c.633C>T	c.(631-633)ttC>ttT	p.F211F	ORAI2_ENST00000403646.3_Silent_p.F211F|ORAI2_ENST00000488996.1_3'UTR|ORAI2_ENST00000478730.1_Silent_p.F211F|ORAI2_ENST00000473939.1_Silent_p.F211F	NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3	NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1	Q96SN7	ORAI2_HUMAN	ORAI calcium release-activated calcium modulator 2	211						integral to membrane	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						GCCTCATCTTCGTGGTCTTCA	0.667													6	36					0	0	0.00116845	0	0	T	102087367	C	T	102087367	2	4	68	1	0	0	0	0	0	0	0	1	11305	883	31	1		1	ORAI2	7	102087367	Silent	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	2417579	102087367	57051296	31	3522											
ZNF398	0	broad.mit.edu	37	chr7	148876421	148876421	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcgccctttctcctgccCtcagtgtggcattgacttca	6	12	9	14	1	3	2	2	1	1	1	4	2	3	2	3	1	2	1	3	1	0	3			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr7:148876421C>T	ENST00000420008.2	+	6	1732	c.944C>T	c.(943-945)cCt>cTt	p.P315L	ZNF398_ENST00000335901.4_Missense_Mutation_p.P315L|ZNF398_ENST00000491174.1_Missense_Mutation_p.P315L|ZNF398_ENST00000475153.1_Missense_Mutation_p.P486L|ZNF398_ENST00000483892.1_Missense_Mutation_p.P315L|ZNF398_ENST00000540950.1_Missense_Mutation_p.P491L|ZNF398_ENST00000426851.2_Missense_Mutation_p.P315L	NM_170686.2	NP_733787.1	Q8TD17	ZN398_HUMAN	zinc finger protein 398	486					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			TTCTCCTGCCCTCAGTGTGGC	0.612													12	61					0	0	0.00136819	0	0	T	148876421	C	T	148876421	3	4	68	1	0	0	0	0	1	0	0	0	17942	681	24	2	1479	2	ZNF398	7	148876421	Missense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	46789054	148876421	10262242	32	3523											
AGAP3	116988	broad.mit.edu	37	chr7	150839292	150839292	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctctggctgtgcaggccGtccgcaccgtccgcggcaac	5	6	13	17	5	1	0	0	0	1	0	3	0	3	0	4	3	3	5	4	3	1	0			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr7:150839292G>A	ENST00000397238.2	+	15	2002	c.2002G>A	c.(2002-2004)Gtc>Atc	p.V668I	AGAP3_ENST00000463381.1_Missense_Mutation_p.V337I	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	632	Arf-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						TGTGCAGGCCGTCCGCACCGT	0.622													42	202					0	0	0.00361006	0	0	A	150839292	G	A	150839292	3	1	68	1	0	0	0	0	1	0	0	0	368	1145	40	1	2127	1	AGAP3	7	150839292	Missense_Mutation	SNP	G	TCGA-EJ-7123-01A-11D-1961-08	1962871	150839292	8299371	33	3524											
KLF4	9314	broad.mit.edu	37	chr9	110250242	110250242	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggtgaagctgcaggtggaggGcgcgctggcagggccgctgc	5	5	21	10	3	0	1	0	1	0	0	0	2	0	2	1	6	3	5	1	6	1	0			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr9:110250242G>T	ENST00000374672.4	-	3	906	c.433C>A	c.(433-435)Ccc>Acc	p.P145T		NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	145	Ser-rich.				fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						CAGGTGGAGGGCGCGCTGGCA	0.721													3	11					0.00024832	0.00124581	0.00024832	1	0	T	110250242	G	T	110250242	3	4	68	1	0	0	0	0	1	0	0	0	8391	1203	42	4	1018	4	KLF4	9	110250242	Missense_Mutation	SNP	G	TCGA-EJ-7123-01A-11D-1961-08		110250242	30963189	34	3525											
DUSP13	0	broad.mit.edu	37	chr10	76855428	76855429	+	Frame_Shift_Ins	INS	-	-	AA																															gtcgtccgcctcgatgccatINSagtactccagggacattcca																										TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr10:76855428_76855429insAA	ENST00000491677.2	-	7	1227_1228	c.685_686insTT	c.(685-687)tggfs	p.W229fs	DUSP13_ENST00000605915.1_Frame_Shift_Ins_p.W122fs|DUSP13_ENST00000607131.1_Frame_Shift_Ins_p.W193fs|DUSP13_ENST00000372700.3_Frame_Shift_Ins_p.W150fs|DUSP13_ENST00000472493.2_Frame_Shift_Ins_p.W100fs|DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000464872.1_Intron|DUSP13_ENST00000478873.2_Frame_Shift_Ins_p.W236fs	NM_001007271.1	NP_001007272.1	Q6B8I1	MDSP_HUMAN	dual specificity phosphatase 13	91						cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CTCGATGCCATAGTACTCCAGG	0.559													35	178	---	---	---	---						AA	76855429	-	AA	76855428	7	5	68	1	0	1	1	0	0	0	0	0	4839	1406	49	0	305	0	DUSP13	10	76855428	Frame_Shift_Ins	INS	-	TCGA-EJ-7123-01A-11D-1961-08		76855428	58679319	35	3526											
FAM196A	642938	broad.mit.edu	37	chr10	128973908	128973908	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtaaacggtggcaacctccGttttaaacaccctcctgagg	10	9	9	13	3	0	1	0	1	0	0	2	1	2	1	4	3	3	3	4	3	5	3			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr10:128973908G>A	ENST00000522781.1	-	4	1307	c.752C>T	c.(751-753)aCg>aTg	p.T251M	FAM196A_ENST00000424811.2_Missense_Mutation_p.T251M|DOCK1_ENST00000280333.6_Intron	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	251										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GGCAACCTCCGTTTTAAACAC	0.657													6	41					0	0	0.00116845	0	0	A	128973908	G	A	128973908	3	1	68	1	0	0	0	0	1	0	0	0	5560	1145	40	1	699	1	FAM196A	10	128973908	Missense_Mutation	SNP	G	TCGA-EJ-7123-01A-11D-1961-08	52118480	128973908	6560839	36	3527											
MUC5B	727897	broad.mit.edu	37	chr11	1266204	1266204	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accacggccactacgatcacGgccaccggctccaccaccaa	11	3	7	20	4	1	0	1	0	0	0	2	1	2	0	7	3	1	1	7	3	2	1			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	a4dd9f7b-e2a7-40f3-8e19-667f7fd42150	g.chr11:1266204G>A	ENST00000447027.1	+	31	8161	c.8103G>A	c.(8101-8103)acG>acA	p.T2701T	MUC5B_ENST00000529681.1_Silent_p.T2698T|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2698	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ctacgatcacggccaccggct	0.622													3	9					0	0	0.000602214	0	0	A	1266204	G	A	1266204	2	1	68	1	0	0	0	0	0	0	0	1	10027	1103	39	1		1	MUC5B	11	1266204	Silent	SNP	G	TCGA-EJ-7123-01A-11D-1961-08		1266204	133740312	37	3528											
ATL3	25923	broad.mit.edu	37	chr11	63398754	63398754	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaagacgttcttgctacCattgtgcttgcagaagttct	8	14	10	9	1	2	3	0	1	2	2	2	3	2	3	1	0	4	6	1	0	3	6			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr11:63398754C>T	ENST00000398868.3	-	12	1573	c.1297G>A	c.(1297-1299)Ggt>Agt	p.G433S	ATL3_ENST00000332645.4_Missense_Mutation_p.G460S|ATL3_ENST00000538786.1_Missense_Mutation_p.G415S	NM_015459.3	NP_056274.3	Q6DD88	ATLA3_HUMAN	atlastin GTPase 3	433					endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						TTCTTGCTACCATTGTGCTTG	0.493													5	95					0	0	0.00116845	0	0	T	63398754	C	T	63398754	3	4	68	1	0	0	0	0	1	0	0	0	1107	594	21	2	336	2	ATL3	11	63398754	Missense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	62132550	63398754	71607762	38	3529											
C11orf87	399947	broad.mit.edu	37	chr11	109294695	109294695	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagcggcagccgcggtggCggggggctgccccgacctgg	3	4	20	14	5	0	0	0	0	0	0	0	1	0	0	4	7	4	3	4	7	0	0			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr11:109294695C>T	ENST00000327419.6	+	2	739	c.336C>T	c.(334-336)ggC>ggT	p.G112G	RP11-708B6.2_ENST00000532929.1_RNA|RP11-708B6.2_ENST00000532992.1_RNA	NM_207645.3	NP_997528.2	Q6NUJ2	CK087_HUMAN	chromosome 11 open reading frame 87	112						integral to membrane				breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						GCCGCGGTGGCGGGGGGCTGC	0.652													5	86					0	0	0.00116845	0	0	T	109294695	C	T	109294695	2	4	68	1	0	0	0	0	0	0	0	1	1674	755	27	1		1	C11orf87	11	109294695	Silent	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	45895941	109294695	25711821	39	3530											
OR6C4	341418	broad.mit.edu	37	chr12	55945169	55945169	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	accttactagacccccacctCcagacccccatgtatttctt	9	11	3	18	0	1	2	0	0	1	2	2	2	2	2	7	0	1	1	7	0	3	5			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr12:55945169C>G	ENST00000394256.2	+	1	187	c.159C>G	c.(157-159)ctC>ctG	p.L53L	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						ACCCCCACCTCCAGACCCCCA	0.418													32	141					0	0	0.00428921	0	0	G	55945169	C	G	55945169	2	3	68	1	0	0	0	0	0	0	0	1	11240	842	30	4		4	OR6C4	12	55945169	Silent	SNP	C	TCGA-EJ-7123-01A-11D-1961-08		55945169	77906726	40	3531											
HELB	92797	broad.mit.edu	37	chr12	66698883	66698883	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctacacagaatggtcaggAagagttgttcctagacaatg	13	9	11	8	0	1	3	1	0	0	3	2	4	2	4	2	2	1	2	2	2	5	4			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr12:66698883A>G	ENST00000247815.4	+	2	619	c.560A>G	c.(559-561)gAa>gGa	p.E187G		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	187					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		AATGGTCAGGAAGAGTTGTTC	0.353													10	72					0	0	0.000673444	0	0	G	66698883	A	G	66698883	3	3	68	1	0	0	0	0	1	0	0	0	7086	246	9	3	566	3	HELB	12	66698883	Missense_Mutation	SNP	A	TCGA-EJ-7123-01A-11D-1961-08	10753714	66698883	67153012	41	3532											
ALDH2	217	broad.mit.edu	37	chr12	112237730	112237730	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcttcgggccagtgatgcaGatcctgaagttcaagaccat	11	10	10	10	1	2	4	1	2	1	2	4	4	3	4	3	1	1	2	3	1	2	2			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr12:112237730G>A	ENST00000261733.2	+	11	1330	c.1269G>A	c.(1267-1269)caG>caA	p.Q423Q	ALDH2_ENST00000416293.3_Silent_p.Q376Q	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN	aldehyde dehydrogenase 2 family (mitochondrial)	423					carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)	CAGTGATGCAGATCCTGAAGT	0.552			T	HMGA2	leiomyoma								11	28					0	0	0.00185496	0	0	A	112237730	G	A	112237730	2	1	68	1	0	0	0	0	0	0	0	1	493	933	33	2		2	ALDH2	12	112237730	Silent	SNP	G	TCGA-EJ-7123-01A-11D-1961-08	45538847	112237730	21614165	42	3533											
DIS3	22894	broad.mit.edu	37	chr13	73347832	73347832	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttaagcttacatttggatatCtggaatttctgggccaacca	11	14	8	8	0	2	0	0	0	2	0	2	2	2	2	2	3	3	1	2	3	5	5			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr13:73347832C>T	ENST00000377767.4	-	8	1329	c.1229G>A	c.(1228-1230)aGa>aAa	p.R410K	DIS3_ENST00000545453.1_Missense_Mutation_p.R248K|DIS3_ENST00000377780.4_Missense_Mutation_p.R380K	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)	410					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		ATTTGGATATCTGGAATTTCT	0.323										Multiple Myeloma(4;0.011)			10	42					0	0	0.000442599	0	0	T	73347832	C	T	73347832	3	4	68	1	0	0	0	0	1	0	0	0	4563	913	32	2	1703	2	DIS3	13	73347832	Missense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08		73347832	41822046	43	3534											
NGB	58157	broad.mit.edu	37	chr14	77737232	77737232	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctccagcgggctgcggcTcactgcccgccagctctgcc	3	7	13	18	3	2	0	1	0	1	0	3	0	3	0	4	2	6	4	4	2	0	0			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr14:77737232T>C	ENST00000298352.4	-	1	423	c.49A>G	c.(49-51)Agc>Ggc	p.S17G		NM_021257.3	NP_067080.1	Q9NPG2	NGB_HUMAN	neuroglobin	17	Globin.					hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0273)		GGGCTGCGGCTCACTGCCCGC	0.746													2	5					0	0	6.4e-05	0	0	C	77737232	T	C	77737232	3	2	68	1	0	0	0	0	1	0	0	0	10439	1551	54	3	422	3	NGB	14	77737232	Missense_Mutation	SNP	T	TCGA-EJ-7123-01A-11D-1961-08		77737232	29612308	44	3535											
ADPGK	83440	broad.mit.edu	37	chr15	73045050	73045050	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggaaatggatcctggtgaGatccgaggctctgcttttac	8	12	13	8	1	1	1	0	1	1	1	3	5	3	3	2	4	2	2	2	4	2	2			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr15:73045050G>A	ENST00000311669.8	-	7	1216	c.1123C>T	c.(1123-1125)Ctc>Ttc	p.L375F	ADPGK_ENST00000456471.2_Missense_Mutation_p.L101F	NM_031284.4	NP_112574.3	Q9BRR6	ADPGK_HUMAN	ADP-dependent glucokinase	376	ADPK.				glycolysis	extracellular region	ADP-specific glucokinase activity|metal ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						ATCCTGGTGAGATCCGAGGCT	0.552													11	57					0	0	0.00185496	0	0	A	73045050	G	A	73045050	3	1	68	1	0	0	0	0	1	0	0	0	329	942	33	2	371	2	ADPGK	15	73045050	Missense_Mutation	SNP	G	TCGA-EJ-7123-01A-11D-1961-08		73045050	29486342	45	3536											
TMEM8A	58986	broad.mit.edu	37	chr16	426140	426140	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcagacagcaggtaccttgTtggcccgcagggagatggtg	8	8	16	9	1	0	2	0	0	0	2	0	3	0	2	2	4	3	5	2	4	1	3			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr16:426140T>C	ENST00000431232.2	-	6	1380	c.1220A>G	c.(1219-1221)aAc>aGc	p.N407S	TMEM8A_ENST00000250930.3_Missense_Mutation_p.N214S	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	407					cell adhesion	integral to plasma membrane				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						AGGTACCTTGTTGGCCCGCAG	0.682													4	24					0	0	0.00024832	0	0	C	426140	T	C	426140	3	2	68	1	0	0	0	0	1	0	0	0	16274	1725	60	3	1127	3	TMEM8A	16	426140	Missense_Mutation	SNP	T	TCGA-EJ-7123-01A-11D-1961-08		426140	89928613	46	3537											
NLRC5	84166	broad.mit.edu	37	chr16	57116361	57116361	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccccattccctgcgacatggCccagcacctgaagagccagg	9	5	10	17	1	0	2	0	1	0	1	1	3	1	2	6	2	3	1	6	2	1	1			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr16:57116361C>T	ENST00000262510.6	+	49	5747	c.5522C>T	c.(5521-5523)gCc>gTc	p.A1841V	NLRC5_ENST00000436936.1_3'UTR|NLRC5_ENST00000539144.1_Missense_Mutation_p.A1812V|NLRC5_ENST00000308149.7_Missense_Mutation_p.A1812V	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1841					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				TGCGACATGGCCCAGCACCTG	0.567													12	62					0	0	0.000958276	0	0	T	57116361	C	T	57116361	3	4	68	1	0	0	0	0	1	0	0	0	10517	739	26	2	5708	2	NLRC5	16	57116361	Missense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	56690221	57116361	33238392	47	3538											
C17orf78	284099	broad.mit.edu	37	chr17	35736258	35736258	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ccgcagaaacagctctgcctCctcaagctgtcacctaatcc	10	8	6	17	1	3	1	2	0	1	1	5	1	5	1	5	0	4	3	5	0	3	1			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr17:35736258C>G	ENST00000300618.4	+	3	379	c.329C>G	c.(328-330)tCc>tGc	p.S110C	C17orf78_ENST00000586700.1_Missense_Mutation_p.S110C|ACACA_ENST00000353139.5_Intron|ACACA_ENST00000416895.1_Intron	NM_173625.3	NP_775896.3	Q8N4C9	CQ078_HUMAN	chromosome 17 open reading frame 78	110						integral to membrane				NS(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(1)	6		Breast(25;0.00295)|Ovarian(249;0.15)				AGCTCTGCCTCCTCAAGCTGT	0.458													6	136					0	0	0.00198382	0	0	G	35736258	C	G	35736258	3	3	68	1	0	0	0	0	1	0	0	0	1893	855	30	4	339	4	C17orf78	17	35736258	Missense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08		35736258	45458952	48	3539											
RAB5C	5878	broad.mit.edu	37	chr17	40280784	40280784	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctcaaacttgactgttgtGtcatccaggcagacagtctg	10	12	9	10	0	3	2	2	1	2	1	5	2	4	2	1	1	1	2	1	1	1	2			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr17:40280784G>T	ENST00000393860.3	-	4	517	c.201C>A	c.(199-201)gaC>gaA	p.D67E	RAB5C_ENST00000547517.1_Missense_Mutation_p.D100E|CTD-2132N18.3_ENST00000592574.1_Missense_Mutation_p.D67E|RAB5C_ENST00000346213.4_Missense_Mutation_p.D67E	NM_201434.2	NP_958842.1	P51148	RAB5C_HUMAN	RAB5C, member RAS oncogene family	67					protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GTP binding|GTPase activity|protein binding			large_intestine(1)|lung(4)|prostate(1)|skin(1)	7		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		TGACTGTTGTGTCATCCAGGC	0.577													12	66					1.61879e-10	8.40636e-10	0.00136819	1	0	T	40280784	G	T	40280784	3	4	68	1	0	0	0	0	1	0	0	0	13002	1368	48	4	465	4	RAB5C	17	40280784	Missense_Mutation	SNP	G	TCGA-EJ-7123-01A-11D-1961-08	4544526	40280784	40914426	49	3540											
SPOP	8405	broad.mit.edu	37	chr17	47696643	47696643	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattcaggatggagaatttgAattttgcccgaacttcactc	11	13	8	9	1	2	2	2	1	0	1	3	5	2	3	1	2	2	0	1	2	3	5			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr17:47696643A>C	ENST00000393331.3	-	6	775	c.305T>G	c.(304-306)tTc>tGc	p.F102C	SPOP_ENST00000504102.1_Missense_Mutation_p.F102C|SPOP_ENST00000503676.1_Missense_Mutation_p.F102C|SPOP_ENST00000393328.2_Missense_Mutation_p.F102C|SPOP_ENST00000347630.2_Missense_Mutation_p.F102C	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	102	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.F102C(2)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						GGAGAATTTGAATTTTGCCCG	0.408										Prostate(2;0.17)			15	79					0	0	0.000566183	0	0	C	47696643	A	C	47696643	3	2	68	1	0	0	0	0	1	0	0	0	15140	246	9	5	847	5	SPOP	17	47696643	Missense_Mutation	SNP	A	TCGA-EJ-7123-01A-11D-1961-08	7415859	47696643	33498567	50	3541											
SYNGR2	9144	broad.mit.edu	37	chr17	76168029	76168029	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgtactgagcggcggttagCgtgggaagggggacagagag	9	6	21	5	3	0	2	0	1	0	1	0	5	0	4	0	5	3	2	0	5	3	2			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr17:76168029C>T	ENST00000588282.1	+	3	782	c.776C>T	c.(775-777)gCg>gTg	p.A259V	SYNGR2_ENST00000590201.1_3'UTR|SYNGR2_ENST00000589711.1_3'UTR|SYNGR2_ENST00000592456.1_3'UTR|SYNGR2_ENST00000225777.3_3'UTR|SYNGR2_ENST00000585591.1_Intron	NM_004710.3	NP_004701.1	O43760	SNG2_HUMAN	synaptogyrin 2	0						integral to plasma membrane				endometrium(2)|large_intestine(1)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	7			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.0994)			CGGCGGTTAGCGTGGGAAGGG	0.632													11	75					0	0	0.000673444	0	0	T	76168029	C	T	76168029	3	4	68	1	0	0	0	0	1	0	0	0	15506	783	27	1		1	SYNGR2	17	76168029	Missense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08	28471386	76168029	5027181	51	3542											
LAMA1	284217	broad.mit.edu	37	chr18	6943285	6943285	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcaacaatcagagtgatacgGtgtttgcttttgttagcttg	9	16	10	6	1	2	2	2	1	0	1	2	2	2	2	0	1	4	4	0	1	4	6			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr18:6943285G>C	ENST00000389658.3	-	62	9054	c.8961C>G	c.(8959-8961)caC>caG	p.H2987Q		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2987	Laminin G-like 5.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAGTGATACGGTGTTTGCTTT	0.493													5	137					0	0	0.00198382	0	0	C	6943285	G	C	6943285	3	2	68	1	0	0	0	0	1	0	0	0	8644	1252	44	4	274	4	LAMA1	18	6943285	Missense_Mutation	SNP	G	TCGA-EJ-7123-01A-11D-1961-08		6943285	71133963	52	3543											
ZNF576	79177	broad.mit.edu	37	chr19	44103213	44103213	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccctgccggttgcaaccActactgcccagcccaccttc	7	7	6	21	1	0	0	0	0	0	0	1	0	0	0	7	1	6	2	7	1	2	3			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr19:44103213A>C	ENST00000336564.4	+	3	470	c.316A>C	c.(316-318)Act>Cct	p.T106P	ZNF576_ENST00000391965.2_Missense_Mutation_p.T106P|ZNF576_ENST00000528387.1_Missense_Mutation_p.T106P|ZNF576_ENST00000529930.1_Missense_Mutation_p.T106P|ZNF576_ENST00000525771.1_Missense_Mutation_p.T106P|SRRM5_ENST00000526798.1_Intron|ZNF576_ENST00000533118.1_Missense_Mutation_p.T106P|SRRM5_ENST00000607544.1_Intron	NM_001145347.1	NP_001138819.1	Q9H609	ZN576_HUMAN	zinc finger protein 576	106					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|prostate(1)	2		Prostate(69;0.0199)				GGTTGCAACCACTACTGCCCA	0.652													9	97					0	0	0.000274275	0	0	C	44103213	A	C	44103213	3	2	68	1	0	0	0	0	1	0	0	0	18065	159	6	5	322	5	ZNF576	19	44103213	Missense_Mutation	SNP	A	TCGA-EJ-7123-01A-11D-1961-08		44103213	15025770	53	3544											
NPBWR2	2832	broad.mit.edu	37	chr20	62737951	62737951	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatgaacacgttggtcacCgtcttcatcttgggcgccct	7	11	11	12	3	4	1	2	1	2	0	4	2	4	2	2	3	1	1	2	3	1	3	rs142068571		TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr20:62737951C>T	ENST00000369768.1	-	1	573	c.234G>A	c.(232-234)acG>acA	p.T78T		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	78						plasma membrane	opioid receptor activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					CGTTGGTCACCGTCTTCATCT	0.617													4	17					0	0	0.00024832	0	0	T	62737951	C	T	62737951	2	4	68	1	0	0	0	0	0	0	0	1	10616	639	23	1		1	NPBWR2	20	62737951	Silent	SNP	C	TCGA-EJ-7123-01A-11D-1961-08		62737951	287569	54	3545											
CELSR1	9620	broad.mit.edu	37	chr22	46930952	46930952	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgggcctgcagggtcagcaCgctgctccccacggccgcat	5	5	14	17	4	1	0	1	0	0	0	2	0	2	0	4	3	3	5	4	3	0	0			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr22:46930952C>T	ENST00000262738.3	-	1	2115	c.2116G>A	c.(2116-2118)Gtg>Atg	p.V706M	CELSR1_ENST00000395964.1_Missense_Mutation_p.V706M	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	706	Cadherin 5.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AGGGTCAGCACGCTGCTCCCC	0.627													6	28					0	0	0.00307968	0	0	T	46930952	C	T	46930952	3	4	68	1	0	0	0	0	1	0	0	0	3243	536	19	1	7068	1	CELSR1	22	46930952	Missense_Mutation	SNP	C	TCGA-EJ-7123-01A-11D-1961-08		46930952	4373614	55	3546											
ZBTB48	3104	broad.mit.edu	37	chr1	6648255	6648255	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcaagaccttccgaacccaAggtgaggtacgccctgcccc	9	5	11	16	2	0	2	0	1	0	1	1	3	1	2	6	3	3	2	6	3	4	2			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:6648255A>T	ENST00000377674.4	+	8	1673	c.1516_splice	c.e8+1	p.Q505_splice		NM_001278647.1|NM_001278648.1|NM_005341.2	NP_001265576.1|NP_001265577.1|NP_005332.1	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	505						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		TCCGAACCCAAGGTGAGGTAC	0.622													19	34					0	0	0.000132079	0	0	T	6648255	A	T	6648255	5	4	69	1	0	0	0	0	0	0	1	0	17608	86	3	5	1541	5	ZBTB48	1	6648255	Splice_Site	SNP	A	TCGA-EJ-7125-01A-11D-1961-08		6648255	242602366	1	3547											
ELAVL4	1996	broad.mit.edu	37	chr1	50642827	50642827	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagagaaagccatcaacaCtttaaatggactcagactcc	15	8	7	11	0	2	2	2	0	0	2	3	4	3	3	2	1	3	1	2	1	4	2			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:50642827C>T	ENST00000371824.1	+	3	574	c.317C>T	c.(316-318)aCt>aTt	p.T106I	ELAVL4_ENST00000371823.4_Missense_Mutation_p.T106I|ELAVL4_ENST00000357083.4_Missense_Mutation_p.T123I|ELAVL4_ENST00000371819.1_Missense_Mutation_p.T111I|ELAVL4_ENST00000448907.2_Missense_Mutation_p.T109I|ELAVL4_ENST00000492299.1_3'UTR|ELAVL4_ENST00000371827.1_Missense_Mutation_p.T106I|ELAVL4_ENST00000371821.1_Missense_Mutation_p.T111I			P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	106	RRM 1.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						GCCATCAACACTTTAAATGGA	0.398													22	47					0	0	0.000295444	0	0	T	50642827	C	T	50642827	3	4	69	1	0	0	0	0	1	0	0	0	5080	565	20	2	426	2	ELAVL4	1	50642827	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	43994572	50642827	198607794	2	3548											
NOS1AP	9722	broad.mit.edu	37	chr1	162313729	162313729	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagatggccaggaagatggAgagagcgagaggaacagcaa	16	2	17	6	1	0	4	0	0	0	4	0	9	0	7	1	4	3	2	1	4	3	0			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr1:162313729A>G	ENST00000361897.5	+	6	960	c.558A>G	c.(556-558)ggA>ggG	p.G186G	NOS1AP_ENST00000530878.1_Silent_p.G181G	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	186	PID.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			AGGAAGATGGAGAGAGCGAGA	0.587													3	66					0	0	6.4e-05	0	0	G	162313729	A	G	162313729	2	3	69	1	0	0	0	0	0	0	0	1	10589	291	11	3		3	NOS1AP	1	162313729	Silent	SNP	A	TCGA-EJ-7125-01A-11D-1961-08	111670902	162313729	86936892	3	3549											
ANAPC1	64682	broad.mit.edu	37	chr2	112620054	112620054	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtgcaagaaaggagccatTagaattactatttggagaat	15	11	11	4	0	0	3	0	0	0	3	0	5	0	4	1	3	3	1	1	3	7	4			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:112620054T>C	ENST00000341068.3	-	10	1946	c.1174A>G	c.(1174-1176)Aat>Gat	p.N392D		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	392					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						AAGGAGCCATTAGAATTACTA	0.378													6	24					0	0	8.12818e-05	0	0	C	112620054	T	C	112620054	3	2	69	1	0	0	0	0	1	0	0	0	594	1754	61	3	4816	3	ANAPC1	2	112620054	Missense_Mutation	SNP	T	TCGA-EJ-7125-01A-11D-1961-08		112620054	130579319	4	3550											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	12	13	8	8	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	4	6	rs121913499		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:209113113G>C	ENST00000415913.1	-	4	775	c.394C>G	c.(394-396)Cgt>Ggt	p.R132G	IDH1_ENST00000345146.2_Missense_Mutation_p.R132G|IDH1_ENST00000446179.1_Missense_Mutation_p.R132G			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								20	53					0	0	0.000295444	0	0	C	209113113	G	C	209113113	3	2	69	1	0	0	0	0	1	0	0	0	7538	1058	37	4	878	4	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	96493059	209113113	34086260	5	3551											
ALPI	248	broad.mit.edu	37	chr2	233322371	233322371	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaatggaatcaggctggacGggaagaacctggtgcaggaa	14	5	16	6	1	1	2	1	0	0	2	1	6	1	6	1	6	2	2	1	6	5	0			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr2:233322371G>A	ENST00000295463.3	+	6	822	c.745G>A	c.(745-747)Ggg>Agg	p.G249R		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	249					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CAGGCTGGACGGGAAGAACCT	0.622													14	40					0	0	0.000308642	0	0	A	233322371	G	A	233322371	3	1	69	1	0	0	0	0	1	0	0	0	539	1116	39	1	767	1	ALPI	2	233322371	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	24209258	233322371	9877002	6	3552											
ROBO2	6092	broad.mit.edu	37	chr3	77614158	77614158	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaccatgtaaagaccacccTctatactgtaagaggactgc	15	8	7	11	0	1	2	0	0	1	2	1	3	1	3	3	1	3	2	3	1	6	4			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:77614158T>A	ENST00000461745.1	+	12	2636	c.1736T>A	c.(1735-1737)cTc>cAc	p.L579H	ROBO2_ENST00000332191.8_Missense_Mutation_p.L579H|ROBO2_ENST00000487694.3_Missense_Mutation_p.L595H	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	579	Fibronectin type-III 1.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AAGACCACCCTCTATACTGTA	0.463													33	44					0	0	0.000339439	0	0	A	77614158	T	A	77614158	3	1	69	1	0	0	0	0	1	0	0	0	13566	1551	54	5	1784	5	ROBO2	3	77614158	Missense_Mutation	SNP	T	TCGA-EJ-7125-01A-11D-1961-08		77614158	120408272	7	3553											
TOPBP1	11073	broad.mit.edu	37	chr3	133342926	133342926	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagtgctcggaaacaatgtgTactcctctttcttttacaga	10	14	7	10	1	2	1	0	0	2	1	4	2	3	2	1	1	4	2	1	1	4	4			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:133342926T>C	ENST00000260810.5	-	17	3029	c.2898A>G	c.(2896-2898)gtA>gtG	p.V966V		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	966	BRCT 6.				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						AAACAATGTGTACTCCTCTTT	0.383								Other conserved DNA damage response genes					21	43					0	0	0.000229342	0	0	C	133342926	T	C	133342926	2	2	69	1	0	0	0	0	0	0	0	1	16430	1625	57	3		3	TOPBP1	3	133342926	Silent	SNP	T	TCGA-EJ-7125-01A-11D-1961-08	55728768	133342926	64679504	8	3554											
MECOM	2122	broad.mit.edu	37	chr3	168810878	168810878	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccagttcagaatgaggcgacGatgttgctgtacctgtgtgg	8	11	14	8	2	1	2	1	1	0	1	1	4	1	2	2	2	2	4	2	2	2	3			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr3:168810878G>A	ENST00000464456.1	-	12	3641	c.2441C>T	c.(2440-2442)tCg>tTg	p.S814L	MECOM_ENST00000472280.1_Missense_Mutation_p.S824L|MECOM_ENST00000468789.1_Missense_Mutation_p.S823L|MECOM_ENST00000460814.1_Missense_Mutation_p.S814L|MECOM_ENST00000433243.2_Missense_Mutation_p.S824L|MECOM_ENST00000392736.3_Missense_Mutation_p.S823L|MECOM_ENST00000264674.3_Missense_Mutation_p.S888L|MECOM_ENST00000494292.1_Missense_Mutation_p.S1002L	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						ATGAGGCGACGATGTTGCTGT	0.388													39	64					0	0	0.000319135	0	0	A	168810878	G	A	168810878	3	1	69	1	0	0	0	0	1	0	0	0	9472	1059	37	1	703	1	MECOM	3	168810878	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	35467952	168810878	29211552	9	3555											
NSA2	10412	broad.mit.edu	37	chr5	74066519	74066519	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaacagaagtattaaaagttAttcgaacaggaaagagaaag	22	7	9	3	1	0	2	0	0	0	2	1	5	0	3	0	1	2	2	0	1	9	4			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr5:74066519A>C	ENST00000296802.5	+	4	775	c.406A>C	c.(406-408)Att>Ctt	p.I136L	NSA2_ENST00000513356.1_3'UTR	NM_014886.3	NP_055701.1	O95478	NSA2_HUMAN	NSA2 ribosome biogenesis homolog (S. cerevisiae)	136	Lys-rich.				rRNA processing	nucleolus|ribonucleoprotein complex				breast(1)|endometrium(2)|kidney(1)|lung(1)|ovary(1)|skin(1)	7						ATTAAAAGTTATTCGAACAGG	0.368													22	59					0	0	0.000375601	0	0	C	74066519	A	C	74066519	3	2	69	1	0	0	0	0	1	0	0	0	10716	449	16	5	420	5	NSA2	5	74066519	Missense_Mutation	SNP	A	TCGA-EJ-7125-01A-11D-1961-08		74066519	106848741	10	3556											
FAM188B	84182	broad.mit.edu	37	chr7	30825445	30825445	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaagtaagcccatgcagaCggtcccgggtgaaactcctg	12	6	11	12	2	0	2	0	1	0	1	2	2	2	2	3	2	3	2	3	2	4	1			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr7:30825445C>T	ENST00000265299.6	+	4	577	c.500C>T	c.(499-501)aCg>aTg	p.T167M	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	167										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCCATGCAGACGGTCCCGGGT	0.458													60	97					0	0	0.000147903	0	0	T	30825445	C	T	30825445	3	4	69	1	0	0	0	0	1	0	0	0	5546	536	19	1	514	1	FAM188B	7	30825445	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08		30825445	128313218	11	3557											
SLC26A7	115111	broad.mit.edu	37	chr8	92406217	92406218	+	Frame_Shift_Ins	INS	-	-	T																															cctagactcagagaaaccaaINSttttttttgaatcggtatct																								rs149495064		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr8:92406217_92406218insT	ENST00000276609.3	+	18	2124_2125	c.1885_1886insT	c.(1885-1887)tttfs	p.F629fs	SLC26A7_ENST00000523719.1_Frame_Shift_Ins_p.F629fs|SLC26A7_ENST00000309536.2_Frame_Shift_Ins_p.F629fs|SLC26A7_ENST00000520249.1_3'UTR	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	629	STAS.					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			AGAGAAACCAATTTTTTTTGAA	0.342													14	84	---	---	---	---						T	92406218	-	T	92406217	7	5	69	1	0	1	1	0	0	0	0	0	14577	101	4	0	1951	0	SLC26A7	8	92406217	Frame_Shift_Ins	INS	-	TCGA-EJ-7125-01A-11D-1961-08		92406217	53957805	12	3558											
COL15A1	1306	broad.mit.edu	37	chr9	101785643	101785643	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttcttctctttccaggcagGagcagaagcagagggctctg	8	11	12	10	0	3	2	0	0	3	2	5	3	4	3	1	3	2	4	1	3	1	3			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr9:101785643G>T	ENST00000375001.3	+	14	2189	c.1766G>T	c.(1765-1767)gGa>gTa	p.G589V		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	589	Nonhelical region 2 (NC2).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TTCCAGGCAGGAGCAGAAGCA	0.547													25	43					6.32553e-13	1.60598e-11	9.22233e-05	1	0	T	101785643	G	T	101785643	3	4	69	1	0	0	0	0	1	0	0	0	3695	1174	41	4	1820	4	COL15A1	9	101785643	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08		101785643	39427788	13	3559											
TYSND1	219743	broad.mit.edu	37	chr10	71905802	71905819	+	In_Frame_Del	DEL	CTCTCAGTTGATCCGCCT	CTCTCAGTTGATCCGCCT	-																															cagcgcaaaccagcccagcgCtctcagttgatccgcctcct																										TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	1085fb8c-f27d-4ae2-b012-a581900b5a02	g.chr10:71905802_71905819delCTCTCAGTTGATCCGCCT	ENST00000287078.6	-	1	523_540	c.524_541delAGGCGGATCAACTGAGAG	c.(523-543)gcg>g	p.EADQLRA175del	TYSND1_ENST00000335494.5_In_Frame_Del_p.EADQLRA175del	NM_173555.2	NP_775826.2	Q2T9J0	TYSD1_HUMAN	trypsin domain containing 1	175					proteolysis	peroxisome	serine-type endopeptidase activity			endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1)	9						CAGCCCAGCGCTCTCAGTTGATCCGCCTCCTCGTCCTC	0.711													3	4	---	---	---	---						-	71905819	CTCTCAGTTGATCCGCCT	-	71905802	7	5	69	1	0	1	0	1	0	0	0	0	16879	797	28	0	1175	0	TYSND1	10	71905802	In_Frame_Del	DEL	CTCTCAGTTGATCCGCCT	TCGA-EJ-7125-01A-11D-1961-08		71905802	63628945	14	3560											
MUC5B	727897	broad.mit.edu	37	chr11	1255481	1255481	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gactgcagcaacagctcggcGggcacccctggggccgagtg	7	4	16	14	3	0	0	0	0	0	0	1	2	0	0	3	4	4	4	3	4	1	0			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr11:1255481G>A	ENST00000447027.1	+	20	2491	c.2433G>A	c.(2431-2433)gcG>gcA	p.A811A	MUC5B_ENST00000529681.1_Silent_p.A808A			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	808	TIL 3.			P -> L (in Ref. 2; AAC67545).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACAGCTCGGCGGGCACCCCTG	0.692													6	16					0	0	0.000157383	0	0	A	1255481	G	A	1255481	2	1	69	1	0	0	0	0	0	0	0	1	10027	1103	39	1		1	MUC5B	11	1255481	Silent	SNP	G	TCGA-EJ-7125-01A-11D-1961-08		1255481	133751035	15	3561											
FLT3	2322	broad.mit.edu	37	chr13	28610092	28610092	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggagacttgtctgaacaCttcttccaggtccaagatgg	9	12	11	9	0	2	3	0	1	2	2	4	4	4	3	2	3	1	0	2	3	2	4			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr13:28610092C>T	ENST00000380982.4	-	11	1479	c.1398G>A	c.(1396-1398)aaG>aaA	p.K466K	FLT3_ENST00000241453.7_Silent_p.K466K|FLT3_ENST00000537084.1_Silent_p.K466K			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	466					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	TGTCTGAACACTTCTTCCAGG	0.423			"Mis, O"		"AML, ALL"								8	296					0	0	0.000442599	0	0	T	28610092	C	T	28610092	2	4	69	1	0	0	0	0	0	0	0	1	5975	564	20	2		2	FLT3	13	28610092	Silent	SNP	C	TCGA-EJ-7125-01A-11D-1961-08		28610092	86559786	16	3562											
GRK1	6011	broad.mit.edu	37	chr13	114325879	114325879	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgcgcgccctcttctacaCggcgcagatcatctgcggcc	5	7	11	18	6	4	1	1	0	3	1	4	1	4	1	3	2	2	1	3	2	1	2			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr13:114325879C>T	ENST00000335678.6	+	3	1125	c.893C>T	c.(892-894)aCg>aTg	p.T298M		NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	G protein-coupled receptor kinase 1	298	Protein kinase.		T -> M (in patients with autosomal recessive retinitis pigmentosa; unclear pathological significance).		regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity	p.T298M(1)		ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			CTCTTCTACACGGCGCAGATC	0.632													13	43					0	0	0.000219431	0	0	T	114325879	C	T	114325879	3	4	69	1	0	0	0	0	1	0	0	0	6831	536	19	1	903	1	GRK1	13	114325879	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	85715787	114325879	843999	17	3563											
TOX4	9878	broad.mit.edu	37	chr14	21961060	21961062	+	In_Frame_Del	DEL	GCT	GCT	-																															cagtgttgcaggcagcagcaGctgctgctgctgctgcttct																										TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr14:21961060_21961062delGCT	ENST00000405508.1	+	8	1561_1563	c.1285_1287delGCT	c.(1285-1287)del	p.A434del	TOX4_ENST00000262709.3_In_Frame_Del_p.A434del|TOX4_ENST00000448790.2_In_Frame_Del_p.A411del			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	434	Gln/Pro-rich.|Poly-Ala.					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding	p.A429A(1)		large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		GGCAGCAGCAGCTGCTGCTGCTG	0.581													8	321	---	---	---	---						-	21961062	GCT	-	21961060	7	5	69	1	0	1	0	1	0	0	0	0	16441	971	34	0	1311	0	TOX4	14	21961060	In_Frame_Del	DEL	GCT	TCGA-EJ-7125-01A-11D-1961-08		21961060	85388480	18	3564											
ARNT2	9915	broad.mit.edu	37	chr15	80866543	80866543	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccagagagatggattgtcAtcgtatgacttatcccaggt	11	11	10	9	1	1	3	1	1	0	2	3	5	2	4	2	2	0	1	2	2	2	3			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr15:80866543A>T	ENST00000533983.1	+	14	1677	c.1338A>T	c.(1336-1338)tcA>tcT	p.S446S	ARNT2_ENST00000527771.1_Silent_p.S446S|ARNT2_ENST00000303329.4_Silent_p.S457S			Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	457					central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			ATGGATTGTCATCGTATGACT	0.483													29	58					0	0	0.000409698	0	0	T	80866543	A	T	80866543	2	4	69	1	0	0	0	0	0	0	0	1	965	204	8	5		5	ARNT2	15	80866543	Silent	SNP	A	TCGA-EJ-7125-01A-11D-1961-08		80866543	21664849	19	3565											
SMG1	23049	broad.mit.edu	37	chr16	18823153	18823153	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acttggctttcactctcttcCacacactcactgcataggag	9	12	6	14	0	3	0	2	0	1	0	5	1	4	1	1	2	1	2	1	2	1	4			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:18823153C>A	ENST00000446231.2	-	62	11250	c.10838G>T	c.(10837-10839)tGg>tTg	p.W3613L	RP11-1035H13.2_ENST00000569096.1_RNA|SMG1_ENST00000389467.3_Missense_Mutation_p.W3614L			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3613					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CACTCTCTTCCACACACTCAC	0.418													9	499					0.000274275	0.00677534	0.000274275	1	0	A	18823153	C	A	18823153	3	1	69	1	0	0	0	0	1	0	0	0	14849	595	21	4	155	4	SMG1	16	18823153	Missense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08		18823153	71531600	20	3566											
CDH3	1001	broad.mit.edu	37	chr16	68713813	68713813	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaaaggacccacacgaccTcatgttcaccattcaccgga	13	6	6	16	2	3	0	3	0	0	0	3	3	3	2	5	2	0	1	5	2	1	2			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr16:68713813T>C	ENST00000264012.4	+	7	1347	c.803T>C	c.(802-804)cTc>cCc	p.L268P	CDH3_ENST00000581171.1_Missense_Mutation_p.L213P|CDH3_ENST00000429102.2_Missense_Mutation_p.L268P	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	268	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		CCACACGACCTCATGTTCACC	0.552													4	98					0	0	0.00024832	0	0	C	68713813	T	C	68713813	3	2	69	1	0	0	0	0	1	0	0	0	3133	1551	54	3	829	3	CDH3	16	68713813	Missense_Mutation	SNP	T	TCGA-EJ-7125-01A-11D-1961-08	49890660	68713813	21640940	21	3567											
SPAG5	10615	broad.mit.edu	37	chr17	26910636	26910636	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttctccagatcttgctcctGgttatctgctatggtgctgg	4	17	10	10	0	3	1	0	0	3	1	5	1	4	1	2	3	3	4	2	3	2	4			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:26910636G>A	ENST00000321765.5	-	15	2910	c.2578C>T	c.(2578-2580)Cag>Tag	p.Q860*		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	860					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					TCTTGCTCCTGGTTATCTGCT	0.468													4	107					0	0	1.23904e-05	0	0	A	26910636	G	A	26910636	4	1	69	1	0	0	0	0	0	1	0	0	15037	1357	47	2	1043	2	SPAG5	17	26910636	Nonsense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08		26910636	54284574	22	3568											
SDK2	54549	broad.mit.edu	37	chr17	71334988	71334988	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccttctgctgtcgccgccacGagttgtagtatgtggggtca	5	12	13	11	3	2	0	1	0	1	0	3	1	2	0	3	2	1	4	3	2	2	4			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr17:71334988G>A	ENST00000392650.3	-	45	6257	c.6257C>T	c.(6256-6258)tCg>tTg	p.S2086L	SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Missense_Mutation_p.S2067L	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	2086					cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TCGCCGCCACGAGTTGTAGTA	0.592													14	40					0	0	0.000422831	0	0	A	71334988	G	A	71334988	3	1	69	1	0	0	0	0	1	0	0	0	14023	1059	37	1	265	1	SDK2	17	71334988	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08	44424352	71334988	9860222	23	3569											
MIB1	57534	broad.mit.edu	37	chr18	19395662	19395663	+	Frame_Shift_Ins	INS	-	-	T																															ctacatcgaggtagtgctgaINStttgaatgctcgaaacaagc																										TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr18:19395662_19395663insT	ENST00000261537.6	+	11	1829_1830	c.1565_1566insT	c.(1564-1566)gttfs	p.V522fs	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	522					Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			GGTAGTGCTGATTTGAATGCTC	0.411													21	61	---	---	---	---						T	19395663	-	T	19395662	7	5	69	1	0	1	1	0	0	0	0	0	9615	333	12	0	1607	0	MIB1	18	19395662	Frame_Shift_Ins	INS	-	TCGA-EJ-7125-01A-11D-1961-08		19395662	58681586	24	3570											
ARHGEF18	23370	broad.mit.edu	37	chr19	7535101	7535101	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggcacagccctcctgcccGggcccccagctccctcgcca	4	4	11	22	2	0	0	0	0	0	0	3	0	2	0	7	3	3	2	7	3	0	0			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:7535101G>A	ENST00000359920.6	+	19	3692	c.3439G>A	c.(3439-3441)Ggg>Agg	p.G1147R	ARHGEF18_ENST00000319670.9_Missense_Mutation_p.G989R|CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.1104_1104insP	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	1147	Pro-rich.				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				CCTCCTGCCCGGGCCCCCAGC	0.672													42	47					0	0	0.000589545	0	0	A	7535101	G	A	7535101	3	1	69	1	0	0	0	0	1	0	0	0	898	1116	39	1	3513	1	ARHGEF18	19	7535101	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08		7535101	51593882	25	3571											
CEACAM20	125931	broad.mit.edu	37	chr19	45029262	45029262	+	RNA	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgcagctggaggactccatAcggtacaaagcgaggctaca	12	6	12	11	2	0	0	0	0	0	0	1	3	1	2	1	4	6	4	1	4	4	3			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr19:45029262A>G	ENST00000454753.1	-	0	346							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)				AGGACTCCATACGGTACAAAG	0.587													35	85					0	0	0.000270559	0	0	G	45029262	A	G	45029262	1	3	69	0	1	0	0	0	0	0	0	0	3213	391	14	3		3	CEACAM20	19	45029262	RNA	SNP	A	TCGA-EJ-7125-01A-11D-1961-08	37494161	45029262	14099721	26	3572											
FOXS1	2307	broad.mit.edu	37	chr20	30432472	30432472	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggttccttgtggtcagttgGcaggggcagtggggcccgga	4	9	20	8	1	1	0	1	0	0	0	2	1	2	1	2	8	0	4	2	8	0	3	rs2296917		TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr20:30432472G>A	ENST00000375978.3	-	1	948	c.874C>T	c.(874-876)Cca>Tca	p.P292S		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	292			P -> A (in dbSNP:rs2296917).		anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						TGGTCAGTTGGCAGGGGCAGT	0.687													5	40					0	0	1.23904e-05	0	0	A	30432472	G	A	30432472	3	1	69	1	0	0	0	0	1	0	0	0	6069	1203	42	2	122	2	FOXS1	20	30432472	Missense_Mutation	SNP	G	TCGA-EJ-7125-01A-11D-1961-08		30432472	32593048	27	3573											
CLTCL1	8218	broad.mit.edu	37	chr22	19198013	19198013	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcaggatcaacagattctgTagattcctgaggagagaggg	12	9	14	6	0	3	4	2	1	1	3	4	7	4	6	1	3	1	1	1	3	2	3			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr22:19198013T>C	ENST00000263200.10	-	20	3144	c.3072A>G	c.(3070-3072)ctA>ctG	p.L1024L	CLTCL1_ENST00000353891.5_Silent_p.L1024L|CLTCL1_ENST00000427926.1_Silent_p.L1024L	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1024	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					ACAGATTCTGTAGATTCCTGA	0.552			T	?	ALCL								3	47					0	0	1.23904e-05	0	0	C	19198013	T	C	19198013	2	2	69	1	0	0	0	0	0	0	0	1	3590	1625	57	3		3	CLTCL1	22	19198013	Silent	SNP	T	TCGA-EJ-7125-01A-11D-1961-08		19198013	32106553	28	3574											
TMEM211	255349	broad.mit.edu	37	chr22	25331314	25331314	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatttttatttgttcatttCtggcacaaagatgattctct	10	19	6	6	0	3	3	1	1	2	2	4	3	3	3	0	1	0	2	0	1	2	7			TCGA-EJ-7125-01A-11D-1961-08	TCGA-EJ-7125-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3b6ef37-9e52-418b-816f-a2b670b1fda9	dfd72dae-c8b6-4f2c-aedc-173dff182937	g.chr22:25331314C>A	ENST00000407886.1	-	4	628	c.376G>T	c.(376-378)Gaa>Taa	p.E126*	TMEM211_ENST00000423535.1_Nonsense_Mutation_p.E197*|TMEM211_ENST00000382744.1_Nonsense_Mutation_p.E126*			Q6ICI0	TM211_HUMAN	transmembrane protein 211	197						integral to membrane				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						TTGTTCATTTCTGGCACAAAG	0.493													42	80					3.54909e-21	9.26819e-20	0.000589545	1	0	A	25331314	C	A	25331314	4	1	69	1	0	0	0	0	0	1	0	0	16195	922	32	4	17	4	TMEM211	22	25331314	Nonsense_Mutation	SNP	C	TCGA-EJ-7125-01A-11D-1961-08	6133301	25331314	25973252	29	3575											
COL24A1	255631	broad.mit.edu	37	chr1	86488275	86488275	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgctgtgccttgttcaccCtggaaagcacaatttcatgc	8	12	8	13	0	2	0	2	0	0	0	2	1	2	1	3	1	4	3	3	1	2	3			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr1:86488275C>A	ENST00000370571.2	-	17	2515		c.e17-1		COL24A1_ENST00000436319.1_Splice_Site	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1						cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CTTGTTCACCCTGGAAAGCAC	0.328													3	42					0.00909568	0.0092706	1	1	0	A	86488275	C	A	86488275	5	1	70	1	0	0	0	0	0	0	1	0	3706	695	24	4	3172	4	COL24A1	1	86488275	Splice_Site	SNP	C	TCGA-EJ-7314-01A-31D-2114-08		86488275	162762346	1	3576											
NBPF14	25832	broad.mit.edu	37	chr1	148004650	148004650	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agggcgaagctgatatgctcTtcctcaaatgagtaaaacac	14	9	9	9	1	2	2	1	2	1	0	3	3	3	2	1	1	3	3	1	1	5	3			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr1:148004650T>C	ENST00000369219.1	-	22	2680	c.2664A>G	c.(2662-2664)gaA>gaG	p.E888E				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	888	NBPF 10.					cytoplasm				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					TGATATGCTCTTCCTCAAATG	0.433													89	334					0	0	1	0	0	C	148004650	T	C	148004650	2	2	70	1	0	0	0	0	0	0	0	1	10242	1606	56	3		3	NBPF14	1	148004650	Silent	SNP	T	TCGA-EJ-7314-01A-31D-2114-08	61516375	148004650	101245971	2	3577											
FCER1A	2205	broad.mit.edu	37	chr1	159275921	159275921	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagtactggtatgagaacCacaacatctccattacaaat	16	10	5	10	0	2	1	1	1	1	1	3	2	2	1	2	1	4	2	2	1	7	3			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr1:159275921C>A	ENST00000368115.1	+	5	574	c.475C>A	c.(475-477)Cac>Aac	p.H159N	FCER1A_ENST00000368114.1_Missense_Mutation_p.H126N	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	159	Ig-like 2.					integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	GTATGAGAACCACAACATCTC	0.488													22	74					3.83957e-06	4.42385e-06	1	1	0	A	159275921	C	A	159275921	3	1	70	1	0	0	0	0	1	0	0	0	5807	594	21	4	489	4	FCER1A	1	159275921	Missense_Mutation	SNP	C	TCGA-EJ-7314-01A-31D-2114-08	11271271	159275921	89974700	3	3578											
SEC16B	89866	broad.mit.edu	37	chr1	177930014	177930014	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgacctcctggcccgaaaCtcacaggaacatgagggatg	11	6	12	12	1	1	2	1	2	0	0	2	5	2	4	3	3	2	1	3	3	2	0			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr1:177930014C>T	ENST00000308284.6	-	7	937	c.848G>A	c.(847-849)aGt>aAt	p.S283N	RP4-798P15.3_ENST00000528461.1_Missense_Mutation_p.S283N|SEC16B_ENST00000464631.1_Missense_Mutation_p.S284N|RP4-798P15.3_ENST00000354921.2_5'UTR	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	283					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						TGGCCCGAAACTCACAGGAAC	0.532													5	40					0	0	1	0	0	T	177930014	C	T	177930014	3	4	70	1	0	0	0	0	1	0	0	0	14041	565	20	2	2414	2	SEC16B	1	177930014	Missense_Mutation	SNP	C	TCGA-EJ-7314-01A-31D-2114-08	18654093	177930014	71320607	4	3579											
URB2	9816	broad.mit.edu	37	chr1	229771856	229771856	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggcccctccacggtactctCtgcatgcctcctggagctgc	4	9	11	17	1	1	0	0	0	1	0	4	1	3	1	5	3	5	3	5	3	1	1			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr1:229771856C>T	ENST00000258243.2	+	4	1632	c.1496C>T	c.(1495-1497)tCt>tTt	p.S499F		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	499						nucleolus		p.S499F(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						ACGGTACTCTCTGCATGCCTC	0.577													41	117					0	0	1	0	0	T	229771856	C	T	229771856	3	4	70	1	0	0	0	0	1	0	0	0	17085	913	32	2	1506	2	URB2	1	229771856	Missense_Mutation	SNP	C	TCGA-EJ-7314-01A-31D-2114-08	51841842	229771856	19478765	5	3580											
PSD4	23550	broad.mit.edu	37	chr2	113949974	113949974	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtgagaatctgaggacacCgatgaactcttcttggcttc	11	11	10	9	1	3	3	0	3	3	1	4	6	3	4	1	2	1	1	1	2	3	3	rs146593284		TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr2:113949974C>T	ENST00000245796.6	+	6	1841	c.1646C>T	c.(1645-1647)cCg>cTg	p.P549L	PSD4_ENST00000441564.2_Missense_Mutation_p.P521L	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	549	SEC7.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTGAGGACACCGATGAACTCT	0.557													25	211					0	0	1	0	0	T	113949974	C	T	113949974	3	4	70	1	0	0	0	0	1	0	0	0	12698	652	23	1	1664	1	PSD4	2	113949974	Missense_Mutation	SNP	C	TCGA-EJ-7314-01A-31D-2114-08		113949974	129249399	6	3581											
ATF2	1386	broad.mit.edu	37	chr2	176001149	176001149	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcacacatacctggcagaaTtcacatgtaacttgaatttc	13	12	6	10	0	1	2	1	1	0	1	2	2	1	2	1	1	3	3	1	1	4	5			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr2:176001149T>A	ENST00000264110.2	-	3	321	c.23A>T	c.(22-24)aAt>aTt	p.N8I	ATF2_ENST00000409833.1_Missense_Mutation_p.N8I|ATF2_ENST00000409635.1_5'UTR|ATF2_ENST00000487334.2_5'UTR|ATF2_ENST00000409499.1_Missense_Mutation_p.N8I|ATF2_ENST00000538946.1_5'UTR|ATF2_ENST00000426833.3_5'UTR|ATF2_ENST00000345739.5_5'UTR|ATF2_ENST00000409437.1_5'UTR|ATF2_ENST00000392543.2_5'UTR|ATF2_ENST00000413123.1_5'UTR|ATF2_ENST00000392544.1_Missense_Mutation_p.N8I	NM_001256090.1|NM_001256091.1|NM_001880.3	NP_001243019.1|NP_001243020.1|NP_001871.2	P15336	ATF2_HUMAN	activating transcription factor 2	8					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.125)			CCTGGCAGAATTCACATGTAA	0.284													11	144					0	0	1	0	0	A	176001149	T	A	176001149	3	1	70	1	0	0	0	0	1	0	0	0	1079	1493	52	5	1542	5	ATF2	2	176001149	Missense_Mutation	SNP	T	TCGA-EJ-7314-01A-31D-2114-08	62051175	176001149	67198224	7	3582											
BMPR2	659	broad.mit.edu	37	chr2	203383680	203383680	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tttacagagtgcctttgatgGaacatgacaacattgcccgc	11	11	9	10	1	0	3	0	2	0	1	0	4	0	4	2	1	5	0	2	1	3	4			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr2:203383680G>C	ENST00000374580.4	+	6	1296	c.757G>C	c.(757-759)Gaa>Caa	p.E253Q	BMPR2_ENST00000374574.2_Missense_Mutation_p.E253Q	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	253	Protein kinase.				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						GCCTTTGATGGAACATGACAA	0.423													39	109					0	0	1	0	0	C	203383680	G	C	203383680	3	2	70	1	0	0	0	0	1	0	0	0	1470	1175	41	4	779	4	BMPR2	2	203383680	Missense_Mutation	SNP	G	TCGA-EJ-7314-01A-31D-2114-08	27382531	203383680	39815693	8	3583											
ATP2B2	491	broad.mit.edu	37	chr3	10417120	10417120	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcccctctcaccttcacCgaataggccaacgagatggt	9	9	7	16	2	2	1	2	0	1	1	5	3	4	1	6	2	1	0	6	2	3	2			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr3:10417120C>T	ENST00000397077.1	-	10	1850	c.1275G>A	c.(1273-1275)tcG>tcA	p.S425S	ATP2B2_ENST00000383800.4_Silent_p.S425S|ATP2B2_ENST00000360273.2_Silent_p.S470S|ATP2B2_ENST00000352432.4_Silent_p.S470S|ATP2B2_ENST00000343816.4_Silent_p.S456S			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	470					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TCACCTTCACCGAATAGGCCA	0.622													8	48					0	0	1	0	0	T	10417120	C	T	10417120	2	4	70	1	0	0	0	0	0	0	0	1	1139	639	23	1		1	ATP2B2	3	10417120	Silent	SNP	C	TCGA-EJ-7314-01A-31D-2114-08		10417120	187605310	9	3584											
CACNA1D	776	broad.mit.edu	37	chr3	53531240	53531240	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gaaggaccaacttctcagccGaatagctccaagcaaactgt	14	7	8	12	1	1	0	1	0	1	0	3	3	2	1	3	1	5	2	3	1	6	2			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr3:53531240G>C	ENST00000288139.3	+	2	247	c.129G>C	c.(127-129)ccG>ccC	p.P43P	CACNA1D_ENST00000350061.5_Silent_p.P43P|CACNA1D_ENST00000422281.2_Silent_p.P43P	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	43					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CTTCTCAGCCGAATAGCTCCA	0.488													6	72					0	0	1	0	0	C	53531240	G	C	53531240	2	2	70	1	0	0	0	0	0	0	0	1	2559	1045	37	4		4	CACNA1D	3	53531240	Silent	SNP	G	TCGA-EJ-7314-01A-31D-2114-08	43114120	53531240	144491190	10	3585											
FLNB	2317	broad.mit.edu	37	chr3	58156417	58156417	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacgtcgtcaaggagaggggCgattatgtgctggctgtgaa	9	10	16	6	3	1	2	1	1	0	1	2	4	1	2	0	4	2	2	0	4	4	2			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr3:58156417C>T	ENST00000295956.4	+	46	7902	c.7737C>T	c.(7735-7737)ggC>ggT	p.G2579G	FLNB_ENST00000493452.1_Silent_p.G2386G|FLNB_ENST00000490882.1_Silent_p.G2610G|FLNB_ENST00000484981.1_3'UTR|FLNB_ENST00000429972.2_Silent_p.G2568G|FLNB_ENST00000419752.2_Silent_p.G2399G|FLNB_ENST00000358537.3_Silent_p.G2555G|FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000348383.5_Silent_p.G2538G	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2579	Interaction with FLNA 2.|Interaction with INPPL1.|Self-association site, tail (By similarity).				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		AGGAGAGGGGCGATTATGTGC	0.542													4	58					0	0	1	0	0	T	58156417	C	T	58156417	2	4	70	1	0	0	0	0	0	0	0	1	5967	755	27	1		1	FLNB	3	58156417	Silent	SNP	C	TCGA-EJ-7314-01A-31D-2114-08	4625177	58156417	139866013	11	3586											
PDCL2	132954	broad.mit.edu	37	chr4	56447021	56447021	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcctgcatatcttcttcaTcaaattcatcttcagcttcc	9	15	3	14	0	7	0	4	0	3	0	8	0	8	0	2	0	3	2	2	0	2	6			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr4:56447021T>C	ENST00000295645.4	-	3	287	c.185A>G	c.(184-186)gAt>gGt	p.D62G		NM_152401.2	NP_689614.2	Q8N4E4	PDCL2_HUMAN	phosducin-like 2	62				D -> N (in Ref. 3; AAH34431).						endometrium(1)|kidney(1)|lung(4)|ovary(1)	7	Lung NSC(11;0.00256)|Glioma(25;0.08)|all_epithelial(27;0.0863)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.69e-07)|Lung(4;1.03e-06)|Epithelial(7;0.00669)			ATCTTCTTCATCAAATTCATC	0.269													3	9					0	0	1	0	0	C	56447021	T	C	56447021	3	2	70	1	0	0	0	0	1	0	0	0	11674	1435	50	3	556	3	PDCL2	4	56447021	Missense_Mutation	SNP	T	TCGA-EJ-7314-01A-31D-2114-08		56447021	134707255	12	3587											
G3BP2	9908	broad.mit.edu	37	chr4	76573856	76573856	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctaggaggaaaaccaggtcGttctctaggtcgttgttcac	9	12	11	9	2	3	0	1	0	2	0	6	2	3	2	1	4	1	3	1	4	4	5			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr4:76573856G>A	ENST00000359707.4	-	9	1680	c.895C>T	c.(895-897)Cga>Tga	p.R299*	G3BP2_ENST00000395719.3_Nonsense_Mutation_p.R299*|G3BP2_ENST00000357854.3_Nonsense_Mutation_p.R266*	NM_203505.2	NP_987101.1	Q9UN86	G3BP2_HUMAN	GTPase activating protein (SH3 domain) binding protein 2	299					cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	27			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			AAACCAGGTCGTTCTCTAGGT	0.398													4	34					0	0	1	0	0	A	76573856	G	A	76573856	4	1	70	1	0	0	0	0	0	1	0	0	6177	1153	40	1	569	1	G3BP2	4	76573856	Nonsense_Mutation	SNP	G	TCGA-EJ-7314-01A-31D-2114-08	20126835	76573856	114580420	13	3588											
PDLIM5	10611	broad.mit.edu	37	chr4	95376473	95376473	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgtcactggttggcccaGctccttggggtttccggctg	2	13	15	11	1	1	0	1	0	0	0	3	0	3	0	3	5	1	4	3	5	0	3			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr4:95376473G>A	ENST00000317968.4	+	2	170	c.34G>A	c.(34-36)Gct>Act	p.A12T	PDLIM5_ENST00000538141.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000318007.5_Missense_Mutation_p.A12T|PDLIM5_ENST00000437932.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000504489.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000514743.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000450793.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000508216.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000512274.1_Missense_Mutation_p.A12T|PDLIM5_ENST00000542407.1_5'UTR|PDLIM5_ENST00000380180.3_Missense_Mutation_p.A12T|PDLIM5_ENST00000359265.4_Missense_Mutation_p.A12T	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448.4	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	12	PDZ.				regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		GGTTGGCCCAGCTCCTTGGGG	0.403													4	35					0	0	1	0	0	A	95376473	G	A	95376473	3	1	70	1	0	0	0	0	1	0	0	0	11730	971	34	2	36	2	PDLIM5	4	95376473	Missense_Mutation	SNP	G	TCGA-EJ-7314-01A-31D-2114-08	18802617	95376473	95777803	14	3589											
COL25A1	84570	broad.mit.edu	37	chr4	109784483	109784483	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaataactcacctttggtcCgggggctccaggttcccctc	7	10	10	14	1	1	1	1	0	0	1	5	1	4	1	5	4	1	2	5	4	2	3			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr4:109784483C>T	ENST00000399132.1	-	21	1674	c.1144G>A	c.(1144-1146)Gga>Aga	p.G382R	COL25A1_ENST00000399126.1_Missense_Mutation_p.G382R|COL25A1_ENST00000399127.1_Missense_Mutation_p.G378R	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	382	Collagen-like 5.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		ACCTTTGGTCCGGGGGCTCCA	0.453													12	30					0	0	1	0	0	T	109784483	C	T	109784483	3	4	70	1	0	0	0	0	1	0	0	0	3707	661	23	1	976	1	COL25A1	4	109784483	Missense_Mutation	SNP	C	TCGA-EJ-7314-01A-31D-2114-08	14408010	109784483	81369793	15	3590											
HSPA4L	22824	broad.mit.edu	37	chr4	128726278	128726278	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaattgtaggaggagcaacaCgaattcctgcagtgaaagaa	17	7	11	6	1	0	2	0	1	0	1	1	5	1	4	1	2	3	3	1	2	6	3			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr4:128726278C>T	ENST00000296464.3	+	9	1447	c.1036C>T	c.(1036-1038)Cga>Tga	p.R346*	HSPA4L_ENST00000439123.2_Nonsense_Mutation_p.R377*|HSPA4L_ENST00000505726.1_Nonsense_Mutation_p.R320*|HSPA4L_ENST00000508776.1_Nonsense_Mutation_p.R346*	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	346					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						AGGAGCAACACGAATTCCTGC	0.328													9	23					0	0	1	0	0	T	128726278	C	T	128726278	4	4	70	1	0	0	0	0	0	1	0	0	7456	528	19	1	1070	1	HSPA4L	4	128726278	Nonsense_Mutation	SNP	C	TCGA-EJ-7314-01A-31D-2114-08	18941795	128726278	62427998	16	3591											
CAPSL	133690	broad.mit.edu	37	chr5	35910128	35910128	+	Frame_Shift_Del	DEL	T	T	-																															catctccagtcttgtctaacTttctaaaagcttgcatgatt																										TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr5:35910128delT	ENST00000397367.2	-	4	491	c.365delA	c.(364-366)agfs	p.K122fs	CAPSL_ENST00000397366.1_Frame_Shift_Del_p.K122fs|CAPSL_ENST00000514524.1_Frame_Shift_Del_p.K122fs	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	122	EF-hand 3.					cytoplasm	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			CTTGTCTAACTTTCTAAAAGC	0.388													33	68	---	---	---	---						-	35910128	T	-	35910128	7	5	70	1	0	1	0	1	0	0	0	0	2657	1609	56	0	269	0	CAPSL	5	35910128	Frame_Shift_Del	DEL	T	TCGA-EJ-7314-01A-31D-2114-08		35910128	145005132	17	3592											
PCDHA8	0	broad.mit.edu	37	chr5	140222810	140222810	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcgagatcagcaccactcGtgtcctggacgaagcggact	9	6	14	12	4	1	1	1	0	0	1	3	5	2	3	2	3	2	1	2	3	1	0			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr5:140222810G>A	ENST00000531613.1	+	1	1904	c.1904G>A	c.(1903-1905)cGt>cAt	p.R635H	PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.R635H|PCDHA4_ENST00000512229.2_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCACCACTCGTGTCCTGGAC	0.647													13	76					0	0	1	0	0	A	140222810	G	A	140222810	3	1	70	1	0	0	0	0	1	0	0	0	11577	1145	40	1	1906	1	PCDHA8	5	140222810	Missense_Mutation	SNP	G	TCGA-EJ-7314-01A-31D-2114-08	104312682	140222810	40692450	18	3593											
LARS	51520	broad.mit.edu	37	chr5	145493811	145493811	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtgtactcctttcccaggAcaggaactcgtcgaggcccc	7	8	11	15	3	0	0	0	0	0	0	4	3	2	2	4	4	2	1	4	4	2	2			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr5:145493811A>C	ENST00000394434.2	-	32	3555	c.3389T>G	c.(3388-3390)gTc>gGc	p.V1130G	RP11-118M9.3_ENST00000514002.1_RNA|LARS_ENST00000510191.1_Missense_Mutation_p.V1076G|LARS_ENST00000545646.1_Missense_Mutation_p.V1084G|LARS_ENST00000274562.9_Missense_Mutation_p.V1103G	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	1130					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CTTTCCCAGGACAGGAACTCG	0.408													27	71					0	0	1	0	0	C	145493811	A	C	145493811	3	2	70	1	0	0	0	0	1	0	0	0	8673	275	10	5	145	5	LARS	5	145493811	Missense_Mutation	SNP	A	TCGA-EJ-7314-01A-31D-2114-08	5271001	145493811	35421449	19	3594											
ANKS1A	23294	broad.mit.edu	37	chr6	34857303	34857320	+	In_Frame_Del	DEL	GGCGGCGGCGGCGGCAGC	GGCGGCGGCGGCGGCAGC	-																															gcggcggcggtggctctgggGgcggcggcggcggcagcggc																										TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr6:34857303_34857320delGGCGGCGGCGGCGGCAGC	ENST00000360359.3	+	1	262_279	c.124_141delGGCGGCGGCGGCGGCAGC	c.(124-141)del	p.GGGGGS42del	ANKS1A_ENST00000535627.1_In_Frame_Del_p.GGGGGS42del	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	42	Gly-rich.					cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						tggctctgggggcggcggcggcggcagcggcggcggcg	0.775													3	4	---	---	---	---						-	34857320	GGCGGCGGCGGCGGCAGC	-	34857303	7	5	70	1	0	1	0	1	0	0	0	0	682	1232	43	0	126	0	ANKS1A	6	34857303	In_Frame_Del	DEL	GGCGGCGGCGGCGGCAGC	TCGA-EJ-7314-01A-31D-2114-08		34857303	136257764	20	3595											
TRERF1	55809	broad.mit.edu	37	chr6	42196333	42196333	+	Frame_Shift_Del	DEL	T	T	-																															caaaagccgccttctgagccTtttgcctctgttgttcctcc																										TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	9c8720a4-31d3-4da0-aa5f-daaf321b2d88	g.chr6:42196333delT	ENST00000541110.1	-	18	3981	c.3413delA	c.(3412-3414)agfs	p.K1138fs	TRERF1_ENST00000354325.2_Frame_Shift_Del_p.K1035fs|TRERF1_ENST00000340840.2_Frame_Shift_Del_p.K1047fs|TRERF1_ENST00000372917.4_Frame_Shift_Del_p.K1047fs|TRERF1_ENST00000372922.4_Frame_Shift_Del_p.K1118fs			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	1118	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTTCTGAGCCTTTTGCCTCTG	0.542													7	646	---	---	---	---						-	42196333	T	-	42196333	7	5	70	1	0	1	0	1	0	0	0	0	16536	1609	56	0	253	0	TRERF1	6	42196333	Frame_Shift_Del	DEL	T	TCGA-EJ-7314-01A-31D-2114-08	7339030	42196333	128918734	21	3596											
FAM120B	84498	broad.mit.edu	37	chr6	170627925	170627925	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacaggccctgaatccaggCaagaagttttaatacggaca	15	8	9	9	1	0	2	0	1	0	1	1	3	1	3	2	3	2	2	2	3	6	4			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr6:170627925C>T	ENST00000476287.1	+	2	1555	c.1447C>T	c.(1447-1449)Caa>Taa	p.Q483*	FAM120B_ENST00000540480.1_Nonsense_Mutation_p.Q495*|FAM120B_ENST00000537664.1_Nonsense_Mutation_p.Q506*|FAM120B_ENST00000252510.9_Intron	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	483					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		TGAATCCAGGCAAGAAGTTTT	0.453													9	200					0	0	1	0	0	T	170627925	C	T	170627925	4	4	70	1	0	0	0	0	0	1	0	0	5448	711	25	2	1449	2	FAM120B	6	170627925	Nonsense_Mutation	SNP	C	TCGA-EJ-7314-01A-31D-2114-08	128431592	170627925	487142	22	3597											
FABP4	2167	broad.mit.edu	37	chr8	82391107	82391107	+	Frame_Shift_Del	DEL	C	C	-																															aacgtcccttggcttatgctCtctcataaactctcgtggaa																										TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr8:82391107delC	ENST00000256104.4	-	4	487	c.392delG	c.(391-393)aafs	p.R131fs	RP11-157I4.4_ENST00000524085.2_RNA|FABP4_ENST00000518669.1_5'UTR	NM_001442.2	NP_001433.1	P15090	FABP4_HUMAN	fatty acid binding protein 4, adipocyte	131					triglyceride catabolic process	cytoplasm|nucleus|soluble fraction	fatty acid binding|protein binding|transporter activity			breast(2)|central_nervous_system(1)|large_intestine(1)|ovary(1)|skin(1)	6			Epithelial(68;0.213)			GGCTTATGCTCTCTCATAAAC	0.383													18	59	---	---	---	---						-	82391107	C	-	82391107	7	5	70	1	0	1	0	1	0	0	0	0	5390	913	32	0	10	0	FABP4	8	82391107	Frame_Shift_Del	DEL	C	TCGA-EJ-7314-01A-31D-2114-08		82391107	63972915	23	3598											
PDP1	54704	broad.mit.edu	37	chr8	94935560	94935560	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgggttgtgggagactatgCataggcaggatgtggttagg	9	11	18	3	0	0	1	0	0	0	1	0	3	0	2	0	6	1	4	0	6	3	4			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr8:94935560C>T	ENST00000396200.3	+	3	1624	c.1348C>T	c.(1348-1350)Cat>Tat	p.H450Y	PDP1_ENST00000297598.4_Missense_Mutation_p.H425Y|PDP1_ENST00000517764.1_Missense_Mutation_p.H425Y|PDP1_ENST00000520728.1_Missense_Mutation_p.H425Y	NM_001161779.1	NP_001155251.1	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	425					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						GGAGACTATGCATAGGCAGGA	0.498													7	120					0	0	1	0	0	T	94935560	C	T	94935560	3	4	70	1	0	0	0	0	1	0	0	0	11732	710	25	2	1456	2	PDP1	8	94935560	Missense_Mutation	SNP	C	TCGA-EJ-7314-01A-31D-2114-08	12544453	94935560	51428462	24	3599											
VPS13B	157680	broad.mit.edu	37	chr8	100866333	100866333	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagccagtaaatttgctcgtCagcatccacgcttccctcaa	10	10	6	15	2	2	0	2	0	0	0	5	0	4	0	3	0	3	4	3	0	3	3			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr8:100866333C>T	ENST00000358544.2	+	56	10902	c.10791C>T	c.(10789-10791)gtC>gtT	p.V3597V	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.V3572V	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3597					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)			ATTTGCTCGTCAGCATCCACG	0.537													10	80					0	0	1	0	0	T	100866333	C	T	100866333	2	4	70	1	0	0	0	0	0	0	0	1	17250	813	29	2		2	VPS13B	8	100866333	Silent	SNP	C	TCGA-EJ-7314-01A-31D-2114-08	5930773	100866333	45497689	25	3600											
ASPN	54829	broad.mit.edu	37	chr9	95228754	95228754	+	Frame_Shift_Del	DEL	T	T	-																															aagattaagtggtatttcacTtagttgattgtgggacagat																										TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr9:95228754delT	ENST00000375544.3	-	4	730	c.487delA	c.(487-489)gtfs	p.S163fs	CENPP_ENST00000375587.3_Intron|ASPN_ENST00000395538.3_Frame_Shift_Del_p.S163fs|ASPN_ENST00000375543.1_Frame_Shift_Del_p.S163fs	NM_017680.4	NP_060150.4	Q9BXN1	ASPN_HUMAN	asporin	163					bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						GGTATTTCACTTAGTTGATTG	0.373													22	110	---	---	---	---						-	95228754	T	-	95228754	7	5	70	1	0	1	0	1	0	0	0	0	1056	1609	56	0	675	0	ASPN	9	95228754	Frame_Shift_Del	DEL	T	TCGA-EJ-7314-01A-31D-2114-08		95228754	45984677	26	3601											
PRTFDC1	56952	broad.mit.edu	37	chr10	25226288	25226288	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcataatatccttggccagcCgctcaattctgaaagaagga	13	10	8	10	1	3	2	2	1	1	1	4	3	4	3	3	2	1	1	3	2	5	4			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr10:25226288C>T	ENST00000320152.6	-	3	192	c.164G>A	c.(163-165)cGg>cAg	p.R55Q	PRTFDC1_ENST00000376378.1_Missense_Mutation_p.R55Q|PRTFDC1_ENST00000376376.3_Missense_Mutation_p.R55Q	NM_020200.5	NP_064585.1	Q9NRG1	PRDC1_HUMAN	phosphoribosyl transferase domain containing 1	55					adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP salvage|grooming behavior|hypoxanthine metabolic process|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|purine ribonucleoside salvage|response to amphetamine|striatum development	cytosol	hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9						CTTGGCCAGCCGCTCAATTCT	0.368													3	48					0	0	1	0	0	T	25226288	C	T	25226288	3	4	70	1	0	0	0	0	1	0	0	0	12686	652	23	1	541	1	PRTFDC1	10	25226288	Missense_Mutation	SNP	C	TCGA-EJ-7314-01A-31D-2114-08		25226288	110308459	27	3602											
JMJD1C	221037	broad.mit.edu	37	chr10	64967187	64967187	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gataaagaggaaattacttcTgaaccaccccagctggaaac	16	7	8	10	0	1	2	0	1	1	1	1	5	1	4	3	2	4	1	3	2	6	3			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr10:64967187T>G	ENST00000399262.2	-	10	4460	c.4242A>C	c.(4240-4242)tcA>tcC	p.S1414S	JMJD1C_ENST00000402544.1_Silent_p.S1195S|JMJD1C_ENST00000542921.1_Silent_p.S1232S|JMJD1C_ENST00000399251.1_Silent_p.S1195S	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1414					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					AAATTACTTCTGAACCACCCC	0.408													17	148					0	0	1	0	0	G	64967187	T	G	64967187	2	3	70	1	0	0	0	0	0	0	0	1	7994	1567	55	5		5	JMJD1C	10	64967187	Silent	SNP	T	TCGA-EJ-7314-01A-31D-2114-08	39740899	64967187	70567560	28	3603											
ADRB1	153	broad.mit.edu	37	chr10	115804993	115804993	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcaactggctgggctacGccaactcggccttcaacccc	7	9	8	17	2	3	0	2	0	1	0	4	0	3	0	4	3	4	2	4	3	4	3			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr10:115804993G>A	ENST00000369295.2	+	1	1188	c.1102G>A	c.(1102-1104)Gcc>Acc	p.A368T		NM_000684.2	NP_000675.1	P08588	ADRB1_HUMAN	adrenoceptor beta 1	368					positive regulation of cAMP biosynthetic process	integral to plasma membrane	alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity			large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)	6		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0124)|all cancers(201;0.0298)	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246)	GCTGGGCTACGCCAACTCGGC	0.672													3	24					0	0	1	0	0	A	115804993	G	A	115804993	3	1	70	1	0	0	0	0	1	0	0	0	339	1087	38	1	1104	1	ADRB1	10	115804993	Missense_Mutation	SNP	G	TCGA-EJ-7314-01A-31D-2114-08	50837806	115804993	19729754	29	3604											
VAX1	11023	broad.mit.edu	37	chr10	118897516	118897516	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gttcttcgagacccgggcagCctcggcgtccgagtggcatc	5	8	14	14	5	1	1	0	0	1	1	5	3	2	1	3	3	1	3	3	3	0	2			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr10:118897516C>A	ENST00000277905.2	-	1	296	c.52G>T	c.(52-54)Gct>Tct	p.A18S	VAX1_ENST00000369206.5_Missense_Mutation_p.A18S	NM_199131.2	NP_954582.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1	18						nucleus	sequence-specific DNA binding			endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		ACCCGGGCAGCCTCGGCGTCC	0.552													8	88					0.00307968	0.00320045	1	1	0	A	118897516	C	A	118897516	3	1	70	1	0	0	0	0	1	0	0	0	17194	739	26	4	1104	4	VAX1	10	118897516	Missense_Mutation	SNP	C	TCGA-EJ-7314-01A-31D-2114-08	3092523	118897516	16637231	30	3605											
MS4A14	84689	broad.mit.edu	37	chr11	60164141	60164141	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcatttccctacagaccTcatagctctctgctggattt	8	14	6	13	0	2	1	1	0	1	1	4	2	3	2	2	1	4	3	2	1	2	4			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr11:60164141T>C	ENST00000300187.6	+	1	367	c.90T>C	c.(88-90)ccT>ccC	p.P30P	MS4A14_ENST00000395005.2_Silent_p.P30P|MS4A14_ENST00000395001.1_5'UTR|MS4A14_ENST00000531787.1_Intron|MS4A14_ENST00000531783.1_Silent_p.P30P	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	30						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						CCTACAGACCTCATAGCTCTC	0.458													3	32					0	0	1	0	0	C	60164141	T	C	60164141	2	2	70	1	0	0	0	0	0	0	0	1	9907	1538	54	3		3	MS4A14	11	60164141	Silent	SNP	T	TCGA-EJ-7314-01A-31D-2114-08		60164141	74842375	31	3606											
CRYAB	1410	broad.mit.edu	37	chr11	111780950	111780950	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatcccgactgttatggcttGggactggaatgtagccagcc	8	10	13	10	1	0	0	0	0	0	0	1	4	1	2	3	3	2	3	3	3	3	3			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr11:111780950G>T	ENST00000533971.1	-	2	516	c.425C>A	c.(424-426)cCa>cAa	p.P142Q	CRYAB_ENST00000526180.1_Intron|CRYAB_ENST00000525823.1_Intron|CRYAB_ENST00000533475.1_Intron|CRYAB_ENST00000533280.1_Intron|CRYAB_ENST00000531198.1_Intron|CRYAB_ENST00000527950.1_Intron|CRYAB_ENST00000227251.3_Intron			P02511	CRYAB_HUMAN	crystallin, alpha B	0					anti-apoptosis|muscle contraction|negative regulation of intracellular transport|protein folding|protein homooligomerization|response to heat	cytoplasm|nucleus	protein homodimerization activity|structural constituent of eye lens|unfolded protein binding			endometrium(1)|large_intestine(1)|lung(2)|skin(4)	8		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)		GTTATGGCTTGGGACTGGAAT	0.418													6	12					0.000157383	0.000173777	1	1	0	T	111780950	G	T	111780950	3	4	70	1	0	0	0	0	1	0	0	0	3929	1363	47	4		4	CRYAB	11	111780950	Missense_Mutation	SNP	G	TCGA-EJ-7314-01A-31D-2114-08	51616809	111780950	23225566	32	3607											
DDN	23109	broad.mit.edu	37	chr12	49391533	49391533	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaccagatctgttctccttCtttcccttccctcgagccct	6	14	4	17	1	3	1	0	0	3	1	7	2	5	1	5	0	2	1	5	0	1	4			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr12:49391533C>T	ENST00000421952.2	-	2	1147	c.1126G>A	c.(1126-1128)Gaa>Aaa	p.E376K		NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	376	Interaction with ACTN1.					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						TGTTCTCCTTCTTTCCCTTCC	0.632													15	43					0	0	1	0	0	T	49391533	C	T	49391533	3	4	70	1	0	0	0	0	1	0	0	0	4356	922	32	2	1013	2	DDN	12	49391533	Missense_Mutation	SNP	C	TCGA-EJ-7314-01A-31D-2114-08		49391533	84460362	33	3608											
UBR1	197131	broad.mit.edu	37	chr15	43262758	43262758	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctgcaaagaaagaagatgCggaatgagcctcttcactgt	13	10	10	8	1	3	4	1	1	2	3	3	5	3	5	1	1	3	1	1	1	4	2	rs139296068		TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr15:43262758C>T	ENST00000290650.4	-	40	4495	c.4417G>A	c.(4417-4419)Gca>Aca	p.A1473T	UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1473					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		AAAGAAGATGCGGAATGAGCC	0.353													4	93					0	0	1	0	0	T	43262758	C	T	43262758	3	4	70	1	0	0	0	0	1	0	0	0	16962	768	27	1	864	1	UBR1	15	43262758	Missense_Mutation	SNP	C	TCGA-EJ-7314-01A-31D-2114-08		43262758	59268634	34	3609											
EPB42	2038	broad.mit.edu	37	chr15	43507486	43507486	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcccccagactggaaattggGaatgtggcttgggtcctgtt	7	12	13	9	0	0	1	0	0	0	1	2	3	2	3	3	4	0	2	3	4	2	3			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr15:43507486G>T	ENST00000300215.3	-	3	784	c.327C>A	c.(325-327)ttC>ttA	p.F109L	EPB42_ENST00000441366.2_Missense_Mutation_p.F79L|EPB42_ENST00000540029.1_Intron			P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	79					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		TGGAAATTGGGAATGTGGCTT	0.542													11	99					0.00136819	0.00145029	1	1	0	T	43507486	G	T	43507486	3	4	70	1	0	0	0	0	1	0	0	0	5186	1165	41	4	1882	4	EPB42	15	43507486	Missense_Mutation	SNP	G	TCGA-EJ-7314-01A-31D-2114-08	244728	43507486	59023906	35	3610											
UBE2I	7329	broad.mit.edu	37	chr16	1370473	1370473	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggaacttctaaatgaacCaaatatccaagacccagctc	17	7	5	12	0	1	2	0	1	1	1	3	3	2	3	3	1	3	1	3	1	7	3			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr16:1370473C>T	ENST00000355803.4	+	6	919	c.368C>T	c.(367-369)cCa>cTa	p.P123L	LA16c-358B7.3_ENST00000567829.1_RNA|UBE2I_ENST00000406620.1_Missense_Mutation_p.P123L|UBE2I_ENST00000325437.5_Missense_Mutation_p.P123L|UBE2I_ENST00000403747.2_Missense_Mutation_p.P123L|UBE2I_ENST00000397514.3_Missense_Mutation_p.P123L|LA16c-358B7.3_ENST00000568106.1_RNA|UBE2I_ENST00000402301.1_Missense_Mutation_p.P123L|UBE2I_ENST00000566587.1_Missense_Mutation_p.P123L|UBE2I_ENST00000397515.2_Missense_Mutation_p.P123L	NM_194260.2	NP_919236.1	P63279	UBC9_HUMAN	ubiquitin-conjugating enzyme E2I	123					cell division|chromosome segregation|interspecies interaction between organisms|mitosis|negative regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|protein sumoylation	cytoplasm|PML body|synaptonemal complex	ATP binding|enzyme binding|ubiquitin-protein ligase activity			breast(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	5		Hepatocellular(780;0.00369)				CTAAATGAACCAAATATCCAA	0.532													6	93					0	0	1	0	0	T	1370473	C	T	1370473	3	4	70	1	0	0	0	0	1	0	0	0	16920	594	21	2	386	2	UBE2I	16	1370473	Missense_Mutation	SNP	C	TCGA-EJ-7314-01A-31D-2114-08		1370473	88984280	36	3611											
PLEKHH3	79990	broad.mit.edu	37	chr17	40821536	40821536	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcaggcggccacatggccaTagctgacactgtggatgggc	8	6	16	11	1	0	1	0	1	0	0	0	2	0	2	2	6	1	2	2	6	1	1			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr17:40821536T>A	ENST00000293349.6	-	12	2538	c.2108A>T	c.(2107-2109)tAt>tTt	p.Y703F	PLEKHH3_ENST00000412503.1_Missense_Mutation_p.Y529F|PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000591022.1_Missense_Mutation_p.Y706F			Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	706	FERM.				signal transduction	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		CACATGGCCATAGCTGACACT	0.667													4	38					0	0	1	0	0	A	40821536	T	A	40821536	3	1	70	1	0	0	0	0	1	0	0	0	12126	1406	49	5	272	5	PLEKHH3	17	40821536	Missense_Mutation	SNP	T	TCGA-EJ-7314-01A-31D-2114-08		40821536	40373674	37	3612											
ZNRF4	148066	broad.mit.edu	37	chr19	5455562	5455562	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagggtcccagtggccgcGtcactgcctctgagccacgc	6	6	13	16	3	2	1	1	1	1	0	3	1	3	1	4	2	3	1	4	2	0	0	rs147873454	by1000genomes	TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr19:5455562G>A	ENST00000222033.4	+	1	137	c.60G>A	c.(58-60)gcG>gcA	p.A20A		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	20						integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		CAGTGGCCGCGTCACTGCCTC	0.662													6	61					0	0	1	0	0	A	5455562	G	A	5455562	2	1	70	1	0	0	0	0	0	0	0	1	18256	1132	40	1		1	ZNRF4	19	5455562	Silent	SNP	G	TCGA-EJ-7314-01A-31D-2114-08		5455562	53673421	38	3613											
SPHK2	56848	broad.mit.edu	37	chr19	49129075	49129075	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcattgtctcctcctgtcCacagcccctgcccctccctg	3	11	5	22	0	2	0	1	0	1	0	6	0	5	0	9	0	2	0	9	0	0	1			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr19:49129075C>A	ENST00000443164.1	+	1	858	c.153C>A	c.(151-153)tcC>tcA	p.S51S	SPHK2_ENST00000598088.1_Intron|SPHK2_ENST00000340932.3_Intron|SPHK2_ENST00000599748.1_Intron|SPHK2_ENST00000245222.4_Intron|SPHK2_ENST00000601712.1_Intron|SPHK2_ENST00000599033.1_Intron|SPHK2_ENST00000599029.1_5'UTR|SPHK2_ENST00000600537.1_Intron			Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	434	Required for binding to sulfatide and phosphoinositides and for membrane localization.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		TCCTCCTGTCCACAGCCCCTG	0.627													2	2					1	1	1	1	0	A	49129075	C	A	49129075	2	1	70	1	0	0	0	0	0	0	0	1	15103	609	21	4		4	SPHK2	19	49129075	Silent	SNP	C	TCGA-EJ-7314-01A-31D-2114-08	43673513	49129075	9999908	39	3614											
ZNF324	25799	broad.mit.edu	37	chr19	58982449	58982449	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgcctgagcggcagaaacCatgtgcacaggaggtccctg	10	5	14	12	2	0	2	0	1	0	1	1	4	1	3	3	3	3	2	3	3	1	0			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr19:58982449C>T	ENST00000536459.2	+	4	1299	c.590C>T	c.(589-591)cCa>cTa	p.P197L	ZNF324_ENST00000535298.1_5'UTR|ZNF324_ENST00000196482.3_Missense_Mutation_p.P197L			O75467	Z324A_HUMAN	zinc finger protein 324	197					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CGGCAGAAACCATGTGCACAG	0.647													3	48					0	0	1	0	0	T	58982449	C	T	58982449	3	4	70	1	0	0	0	0	1	0	0	0	17901	594	21	2	600	2	ZNF324	19	58982449	Missense_Mutation	SNP	C	TCGA-EJ-7314-01A-31D-2114-08	9853374	58982449	146534	40	3615											
JPH2	57158	broad.mit.edu	37	chr20	42747223	42747223	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggttggcagccagggcggCctgttccgctgcctcagctt	3	10	14	14	2	1	0	1	0	0	0	2	0	2	0	4	4	3	5	4	4	0	3			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr20:42747223C>A	ENST00000372980.3	-	3	2082	c.1210G>T	c.(1210-1212)Gcc>Tcc	p.A404S		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	404	Ala-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GCCAGGGCGGCCTGTTCCGCT	0.607													9	169					6.40141e-05	7.21861e-05	1	1	0	A	42747223	C	A	42747223	3	1	70	1	0	0	0	0	1	0	0	0	8005	739	26	4	892	4	JPH2	20	42747223	Missense_Mutation	SNP	C	TCGA-EJ-7314-01A-31D-2114-08		42747223	20278297	41	3616											
MCM3AP	8888	broad.mit.edu	37	chr21	47692564	47692565	+	Frame_Shift_Del	DEL	GT	GT	-																															aagacacccttgtttctcagGtcctggtacatctccttcag																										TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr21:47692564_47692565delGT	ENST00000397708.1	-	9	2629_2630	c.2375_2376delAC	c.(2374-2376)gfs	p.D792fs	MCM3AP_ENST00000291688.1_Frame_Shift_Del_p.D792fs			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	792					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TGTTTCTCAGGTCCTGGTACAT	0.5													45	102	---	---	---	---						-	47692565	GT	-	47692564	7	5	70	1	0	1	0	1	0	0	0	0	9438	1252	44	0	3650	0	MCM3AP	21	47692564	Frame_Shift_Del	DEL	GT	TCGA-EJ-7314-01A-31D-2114-08		47692564	437331	42	3617											
SERPIND1	3053	broad.mit.edu	37	chr22	21133990	21133990	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagcgtcttaacatcctcaaCgccaagttcgctttcaacct	10	11	5	15	3	3	0	2	0	1	0	5	0	4	0	3	0	4	2	3	0	4	3	rs144089172		TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chr22:21133990C>A	ENST00000215727.5	+	2	673	c.390C>A	c.(388-390)aaC>aaA	p.N130K	PI4KA_ENST00000466162.1_Intron|SERPIND1_ENST00000406799.1_Missense_Mutation_p.N130K|PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000572273.1_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	130					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	ACATCCTCAACGCCAAGTTCG	0.498													14	58					0.000308642	0.000333837	1	1	0	A	21133990	C	A	21133990	3	1	70	1	0	0	0	0	1	0	0	0	14164	535	19	4	392	4	SERPIND1	22	21133990	Missense_Mutation	SNP	C	TCGA-EJ-7314-01A-31D-2114-08		21133990	30170576	43	3618											
MSN	4478	broad.mit.edu	37	chrX	64949442	64949442	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtgaaagagggcattctcaAtgatgatatttactgcccgc	12	11	10	8	1	1	4	1	3	1	1	2	4	1	4	1	1	2	1	1	1	4	4			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chrX:64949442A>C	ENST00000360270.5	+	4	507	c.335A>C	c.(334-336)aAt>aCt	p.N112T		NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	112	FERM.				leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton		MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						GGCATTCTCAATGATGATATT	0.498			T	ALK	ALCL								17	14					0	0	1	0	0	C	64949442	A	C	64949442	3	2	70	1	0	0	0	0	1	0	0	0	9933	101	4	5	349	5	MSN	23	64949442	Missense_Mutation	SNP	A	TCGA-EJ-7314-01A-31D-2114-08		64949442	90321118	44	3619											
NRK	203447	broad.mit.edu	37	chrX	105153579	105153579	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actatcaagagacttgcttcGggcaccaaactcaaataact	15	9	6	11	1	2	1	2	0	0	1	3	2	2	1	1	1	3	2	1	1	5	4			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chrX:105153579G>A	ENST00000428173.2	+	13	2252	c.1949G>A	c.(1948-1950)cGg>cAg	p.R650Q	NRK_ENST00000243300.9_Missense_Mutation_p.R649Q			Q7Z2Y5	NRK_HUMAN	Nik related kinase	649							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GACTTGCTTCGGGCACCAAAC	0.483										HNSCC(51;0.14)			4	9					0	0	1	0	0	A	105153579	G	A	105153579	3	1	70	1	0	0	0	0	1	0	0	0	10703	1116	39	1	1996	1	NRK	23	105153579	Missense_Mutation	SNP	G	TCGA-EJ-7314-01A-31D-2114-08	40204137	105153579	50116981	45	3620											
L1CAM	3897	broad.mit.edu	37	chrX	153135593	153135593	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactcgccatcatcctcctcGcccactttcagcagctgcag	7	10	6	18	2	2	0	2	0	0	0	6	0	4	0	4	0	4	3	4	0	1	2			TCGA-EJ-7314-01A-31D-2114-08	TCGA-EJ-7314-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5029ad2a-780b-4be9-920c-ee48da8e2f42	4aace255-a8e8-4e86-a431-b957c4f80e8d	g.chrX:153135593G>A	ENST00000370060.1	-	9	1098	c.909C>T	c.(907-909)ggC>ggT	p.G303G	L1CAM_ENST00000370055.1_Silent_p.G298G|L1CAM_ENST00000361699.4_Silent_p.G303G|L1CAM_ENST00000361981.3_Silent_p.G298G|L1CAM_ENST00000543994.1_Silent_p.G305G|L1CAM_ENST00000538883.1_Silent_p.G305G|L1CAM_ENST00000370057.3_Silent_p.G303G	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	303	Ig-like C2-type 3.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CATCCTCCTCGCCCACTTTCA	0.632													47	126					0	0	1	0	0	A	153135593	G	A	153135593	2	1	70	1	0	0	0	0	0	0	0	1	8627	1074	38	1		1	L1CAM	23	153135593	Silent	SNP	G	TCGA-EJ-7314-01A-31D-2114-08	47982014	153135593	2134967	46	3621											
RSC1A1	6248	broad.mit.edu	37	chr1	15987657	15987657	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agacagaaaaattaacaggtActtcatctgacactggaaga	18	8	8	7	0	2	4	1	1	1	3	2	5	2	5	0	2	2	1	0	2	5	3			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr1:15987657A>G	ENST00000345034.1	+	1	1294	c.1294A>G	c.(1294-1296)Act>Gct	p.T432A	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	432					negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATTAACAGGTACTTCATCTGA	0.438													13	25					0	0	1	0	0	G	15987657	A	G	15987657	3	3	71	1	0	0	0	0	1	0	0	0	13750	391	14	3	1296	3	RSC1A1	1	15987657	Missense_Mutation	SNP	A	TCGA-EJ-7315-01A-31D-2114-08		15987657	233262964	1	3622											
DMAP1	55929	broad.mit.edu	37	chr1	44680509	44680509	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcaaggacggagcaatgtTcttccactggcgacgtgcag	9	7	13	12	4	1	0	0	0	1	0	2	3	2	2	2	3	2	4	2	3	2	2			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr1:44680509T>G	ENST00000372289.2	+	3	595	c.332T>G	c.(331-333)tTc>tGc	p.F111C	DMAP1_ENST00000361745.6_Missense_Mutation_p.F111C|DMAP1_ENST00000315913.5_Missense_Mutation_p.F111C|DMAP1_ENST00000488433.1_3'UTR	NM_019100.4	NP_061973.1	Q9NPF5	DMAP1_HUMAN	DNA methyltransferase 1 associated protein 1	111					DNA methylation|histone H2A acetylation|histone H4 acetylation|negative regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(166;0.155)					GGAGCAATGTTCTTCCACTGG	0.572													6	63					0	0	1	0	0	G	44680509	T	G	44680509	3	3	71	1	0	0	0	0	1	0	0	0	4604	1783	62	5	342	5	DMAP1	1	44680509	Missense_Mutation	SNP	T	TCGA-EJ-7315-01A-31D-2114-08	28692852	44680509	204570112	2	3623											
RYR2	6262	broad.mit.edu	37	chr1	237813234	237813234	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcggtacctttgcacagccGtcttgccattgttaacaaga	10	12	8	11	2	1	1	0	0	1	1	2	1	1	1	3	1	5	3	3	1	3	5			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr1:237813234G>A	ENST00000366574.2	+	50	7887	c.7570G>A	c.(7570-7572)Gtc>Atc	p.V2524I	RYR2_ENST00000542537.1_Missense_Mutation_p.V2508I|RYR2_ENST00000360064.6_Missense_Mutation_p.V2522I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2524	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTGCACAGCCGTCTTGCCATT	0.463													48	105					0	0	1	0	0	A	237813234	G	A	237813234	3	1	71	1	0	0	0	0	1	0	0	0	13821	1145	40	1	7768	1	RYR2	1	237813234	Missense_Mutation	SNP	G	TCGA-EJ-7315-01A-31D-2114-08	193132725	237813234	11437387	3	3624											
KIDINS220	57498	broad.mit.edu	37	chr2	8874814	8874814	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaaaggtgccagtctccaaAattcatattcatctctttct	12	14	5	10	0	5	0	2	0	3	0	7	1	5	0	2	1	1	0	2	1	5	4			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr2:8874814A>C	ENST00000256707.3	-	28	3968	c.3787T>G	c.(3787-3789)Ttt>Gtt	p.F1263V	KIDINS220_ENST00000473731.1_Missense_Mutation_p.F1244V|KIDINS220_ENST00000427284.1_Missense_Mutation_p.F1244V|KIDINS220_ENST00000418530.1_Missense_Mutation_p.F1164V	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1263					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CAGTCTCCAAAATTCATATTC	0.299													19	26					0	0	1	0	0	C	8874814	A	C	8874814	3	2	71	1	0	0	0	0	1	0	0	0	8313	14	1	5	1540	5	KIDINS220	2	8874814	Missense_Mutation	SNP	A	TCGA-EJ-7315-01A-31D-2114-08		8874814	234324559	4	3625											
ITSN2	50618	broad.mit.edu	37	chr2	24483975	24483975	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaataacagacaacatacCtgtccatgaataggtgatac	19	8	6	8	0	0	3	0	2	0	1	1	3	1	3	2	1	4	0	2	1	8	4			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr2:24483975C>A	ENST00000355123.4	-	22	3125	c.2682_splice	c.e22+1	p.Q894_splice	ITSN2_ENST00000361999.3_Splice_Site_p.Q867_splice|ITSN2_ENST00000406921.3_Splice_Site_p.Q894_splice	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	894					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GACAACATACCTGTCCATGAA	0.343													3	59					1	1	1	1	0	A	24483975	C	A	24483975	5	1	71	1	0	0	0	0	0	0	1	0	7971	695	24	4	2538	4	ITSN2	2	24483975	Splice_Site	SNP	C	TCGA-EJ-7315-01A-31D-2114-08	15609161	24483975	218715398	5	3626											
CAPN13	92291	broad.mit.edu	37	chr2	30961160	30961160	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacatgtcccctggaggtcCtgaggagagaaggacaggaa	13	5	15	8	0	0	2	0	1	0	1	2	8	2	6	3	5	1	0	3	5	3	0			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr2:30961160C>T	ENST00000295055.8	-	17	1771		c.e17-1		CAPN13_ENST00000534090.2_Splice_Site	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13						proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					CCTGGAGGTCCTGAGGAGAGA	0.597													4	42					0	0	1	0	0	T	30961160	C	T	30961160	5	4	71	1	0	0	0	0	0	0	1	0	2644	695	24	2	439	2	CAPN13	2	30961160	Splice_Site	SNP	C	TCGA-EJ-7315-01A-31D-2114-08	6477185	30961160	212238213	6	3627											
SLC30A6	55676	broad.mit.edu	37	chr2	32429723	32429723	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgatgacatttggcactatgTatcccatgagtgtgtacagt	10	14	10	7	0	0	3	0	3	0	0	1	3	1	3	1	1	1	3	1	1	3	4			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr2:32429723T>C	ENST00000282587.5	+	11	767	c.730T>C	c.(730-732)Tat>Cat	p.Y244H	SLC30A6_ENST00000406369.1_Missense_Mutation_p.Y170H|SLC30A6_ENST00000538303.1_Missense_Mutation_p.Y215H|SLC30A6_ENST00000435660.1_Missense_Mutation_p.Y244H|SLC30A6_ENST00000379343.2_Missense_Mutation_p.Y284H|SLC30A6_ENST00000357055.3_Missense_Mutation_p.Y47H	NM_017964.3	NP_060434.2	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter), member 6	244						Golgi membrane|integral to membrane	zinc ion transmembrane transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TGGCACTATGTATCCCATGAG	0.358													21	52					0	0	1	0	0	C	32429723	T	C	32429723	3	2	71	1	0	0	0	0	1	0	0	0	14614	1638	57	3	772	3	SLC30A6	2	32429723	Missense_Mutation	SNP	T	TCGA-EJ-7315-01A-31D-2114-08	1468563	32429723	210769650	7	3628											
ERBB4	2066	broad.mit.edu	37	chr2	212288967	212288967	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taataaatcagggatttctcGcgttggaattccatcatagg	12	13	9	7	2	3	0	2	0	1	0	5	2	4	2	1	3	0	1	1	3	5	6			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr2:212288967G>A	ENST00000342788.4	-	23	3089	c.2779C>T	c.(2779-2781)Cga>Tga	p.R927*	ERBB4_ENST00000402597.1_Nonsense_Mutation_p.R917*|ERBB4_ENST00000436443.1_Nonsense_Mutation_p.R927*	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	927	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GGGATTTCTCGCGTTGGAATT	0.388										TSP Lung(8;0.080)			16	44					0	0	1	0	0	A	212288967	G	A	212288967	4	1	71	1	0	0	0	0	0	1	0	0	5237	1095	38	1	1171	1	ERBB4	2	212288967	Nonsense_Mutation	SNP	G	TCGA-EJ-7315-01A-31D-2114-08	179859244	212288967	30910406	8	3629											
GBE1	2632	broad.mit.edu	37	chr3	81627235	81627235	+	Frame_Shift_Del	DEL	C	C	-																															ccaaaatgccagcgacttatCcccaaccaatgcctacagaa																										TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr3:81627235delC	ENST00000429644.2	-	12	2102	c.1459delG	c.(1459-1461)atfs	p.D487fs	GBE1_ENST00000489715.1_Frame_Shift_Del_p.D446fs	NM_000158.3	NP_000149.3	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	487					glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		AGCGACTTATCCCCAACCAAT	0.363									Glycogen Storage Disease, type IV				2	4	---	---	---	---						-	81627235	C	-	81627235	7	5	71	1	0	1	0	1	0	0	0	0	6310	855	30	0	669	0	GBE1	3	81627235	Frame_Shift_Del	DEL	C	TCGA-EJ-7315-01A-31D-2114-08		81627235	116395195	9	3630											
PLXNA1	5361	broad.mit.edu	37	chr3	126748890	126748890	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcggagatctacttgacaCggctactggccaccaaggtg	9	9	11	12	2	2	2	0	1	2	1	3	3	2	2	2	4	2	1	2	4	3	3			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr3:126748890C>A	ENST00000251772.4	+	27	5044	c.4975C>A	c.(4975-4977)Cgg>Agg	p.R1659R	PLXNA1_ENST00000393409.2_Silent_p.R1682R			Q9UIW2	PLXA1_HUMAN	plexin A1	1682					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CTACTTGACACGGCTACTGGC	0.637													3	95					0.115264	0.119875	1	1	0	A	126748890	C	A	126748890	2	1	71	1	0	0	0	0	0	0	0	1	12167	527	19	4		4	PLXNA1	3	126748890	Silent	SNP	C	TCGA-EJ-7315-01A-31D-2114-08	45121655	126748890	71273540	10	3631											
CLSTN2	64084	broad.mit.edu	37	chr3	140277663	140277663	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagattgtgagcaccttcGccaaaaccgaagcccccggg	11	6	10	14	3	1	2	1	1	0	1	2	3	1	2	5	1	3	1	5	1	4	2	rs137889465		TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr3:140277663G>A	ENST00000458420.3	+	12	2195	c.2005G>A	c.(2005-2007)Gcc>Acc	p.A669T		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	669					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	p.A669T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GAGCACCTTCGCCAAAACCGA	0.532										HNSCC(16;0.037)			10	30					0	0	1	0	0	A	140277663	G	A	140277663	3	1	71	1	0	0	0	0	1	0	0	0	3585	1087	38	1	2051	1	CLSTN2	3	140277663	Missense_Mutation	SNP	G	TCGA-EJ-7315-01A-31D-2114-08	13528773	140277663	57744767	11	3632											
CHST2	9435	broad.mit.edu	37	chr3	142840957	142840957	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacctggtgggagaccccgtCaagacactacggagagtgta	11	6	14	10	2	1	3	1	0	0	3	1	6	1	3	3	3	1	1	3	3	3	2			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr3:142840957C>G	ENST00000309575.3	+	2	2683	c.1299C>G	c.(1297-1299)gtC>gtG	p.V433V		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	433					inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						GAGACCCCGTCAAGACACTAC	0.597													9	24					0	0	1	0	0	G	142840957	C	G	142840957	2	3	71	1	0	0	0	0	0	0	0	1	3426	813	29	4		4	CHST2	3	142840957	Silent	SNP	C	TCGA-EJ-7315-01A-31D-2114-08	2563294	142840957	55181473	12	3633											
HSPA4	3308	broad.mit.edu	37	chr5	132426987	132426987	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcattttcagtgtgtccaGtgcatctttagtggaggttc	6	16	12	7	0	2	0	1	0	1	0	4	1	3	1	1	3	1	3	1	3	1	5	rs141758444		TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr5:132426987G>A	ENST00000304858.2	+	12	1770	c.1481G>A	c.(1480-1482)aGt>aAt	p.S494N		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	494					cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGTGTGTCCAGTGCATCTTTA	0.423													17	39					0	0	1	0	0	A	132426987	G	A	132426987	3	1	71	1	0	0	0	0	1	0	0	0	7455	1029	36	2	1527	2	HSPA4	5	132426987	Missense_Mutation	SNP	G	TCGA-EJ-7315-01A-31D-2114-08		132426987	48488273	13	3634											
PCDHB7	0	broad.mit.edu	37	chr5	140553994	140553994	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gactacgaggccctgcaggcGttcgagttccgcgtgggcgc	5	7	16	13	6	0	0	0	0	0	0	2	3	1	0	2	3	2	3	2	3	1	3			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr5:140553994G>T	ENST00000231137.3	+	1	1752	c.1578G>T	c.(1576-1578)gcG>gcT	p.A526A		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		526	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A526A(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTGCAGGCGTTCGAGTTCC	0.706													3	83					6.4e-05	7.23478e-05	1	1	0	T	140553994	G	T	140553994	2	4	71	1	0	0	0	0	0	0	0	1	11594	1132	40	4		4	PCDHB7	5	140553994	Silent	SNP	G	TCGA-EJ-7315-01A-31D-2114-08	8127007	140553994	40361266	14	3635											
ELOVL4	6785	broad.mit.edu	37	chr6	80626371	80626371	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctgcttttttccattttctAtcatgagttgtttttctgat	5	24	5	7	0	4	2	1	2	3	0	5	2	5	2	1	0	1	3	1	0	1	9			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr6:80626371A>T	ENST00000369816.4	-	6	1199	c.899T>A	c.(898-900)aTa>aAa	p.I300K		NM_022726.3	NP_073563.1	Q9GZR5	ELOV4_HUMAN	ELOVL fatty acid elongase 4	300					fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups			central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	TCCATTTTCTATCATGAGTTG	0.358													18	39					0	0	1	0	0	T	80626371	A	T	80626371	3	4	71	1	0	0	0	0	1	0	0	0	5104	449	16	5	49	5	ELOVL4	6	80626371	Missense_Mutation	SNP	A	TCGA-EJ-7315-01A-31D-2114-08		80626371	90488696	15	3636											
MTFR1	9650	broad.mit.edu	37	chr8	66619312	66619312	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcccccaccgcccctgccTccccctgcactggggctcca	3	6	7	25	1	0	0	0	0	0	0	3	0	3	0	10	2	2	2	10	2	0	0			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	35f9f6e3-a269-4b6d-a218-677ab3905fa8	g.chr8:66619312T>C	ENST00000262146.4	+	6	711	c.585T>C	c.(583-585)ccT>ccC	p.P195P	MTFR1_ENST00000517944.1_3'UTR|MTFR1_ENST00000458689.2_Silent_p.P162P	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1	195	Pro-rich.					mitochondrion|plasma membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			CGCCCCTGCCTCCCCCTGCAC	0.478													3	103					0	0	1	0	0	C	66619312	T	C	66619312	2	2	71	1	0	0	0	0	0	0	0	1	9973	1538	54	3		3	MTFR1	8	66619312	Silent	SNP	T	TCGA-EJ-7315-01A-31D-2114-08		66619312	79744710	16	3637											
TRHR	7201	broad.mit.edu	37	chr8	110131650	110131650	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtgtcttttgatgacacctGcttggcttctgaggtatcct	6	16	10	9	0	2	3	0	3	2	0	3	3	3	3	2	2	1	3	2	2	1	5			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr8:110131650G>T	ENST00000518632.1	+	3	1514	c.1163G>T	c.(1162-1164)tGc>tTc	p.C388F	TRHR_ENST00000311762.2_Missense_Mutation_p.C388F			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	388						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			GATGACACCTGCTTGGCTTCT	0.413													14	60					6.31663e-08	7.63871e-08	1	1	0	T	110131650	G	T	110131650	3	4	71	1	0	0	0	0	1	0	0	0	16541	1319	46	4	1169	4	TRHR	8	110131650	Missense_Mutation	SNP	G	TCGA-EJ-7315-01A-31D-2114-08	43512338	110131650	36232372	17	3638											
EFR3A	23167	broad.mit.edu	37	chr8	132999828	132999828	+	Frame_Shift_Del	DEL	A	A	-																															gatgaacttcgcaggcttccAaaatctttagagaagcatga																										TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr8:132999828delA	ENST00000254624.5	+	18	2169	c.1944delA	c.(1942-1944)ccfs	p.P648fs	EFR3A_ENST00000334503.4_Frame_Shift_Del_p.P648fs|EFR3A_ENST00000519656.1_Frame_Shift_Del_p.P612fs	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	648						plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			GCAGGCTTCCAAAATCTTTAG	0.358													2	4	---	---	---	---						-	132999828	A	-	132999828	7	5	71	1	0	1	0	1	0	0	0	0	4984	117	5	0	2014	0	EFR3A	8	132999828	Frame_Shift_Del	DEL	A	TCGA-EJ-7315-01A-31D-2114-08	22868178	132999828	13364194	18	3639											
CREB3	10488	broad.mit.edu	37	chr9	35736505	35736506	+	Frame_Shift_Del	DEL	TG	TG	-																															agtggttggacggctcagacTgtgtactccaggcccctggc																										TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr9:35736505_35736506delTG	ENST00000353704.2	+	9	1336_1337	c.898_899delTG	c.(898-900)tfs	p.C300fs	CREB3_ENST00000486056.1_3'UTR	NM_006368.4	NP_006359.3	O43889	CREB3_HUMAN	cAMP responsive element binding protein 3	324					chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation	cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|nucleus	cAMP response element binding protein binding|CCR1 chemokine receptor binding|DNA binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|urinary_tract(1)	9	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	GBM - Glioblastoma multiforme(74;0.0285)		CGGCTCAGACTGTGTACTCCAG	0.614											OREG0019176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	129	---	---	---	---						-	35736506	TG	-	35736505	7	5	71	1	0	1	0	1	0	0	0	0	3878	1580	55	0	932	0	CREB3	9	35736505	Frame_Shift_Del	DEL	TG	TCGA-EJ-7315-01A-31D-2114-08		35736505	105476926	19	3640											
TMEM26	219623	broad.mit.edu	37	chr10	63170373	63170373	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ataggtcatcagtatgagacGcacgacaaggaaggggccat	14	6	13	8	2	2	1	2	1	0	1	2	4	2	2	1	4	0	2	1	4	4	2			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr10:63170373G>A	ENST00000399298.3	-	6	1182	c.814C>T	c.(814-816)Cgt>Tgt	p.R272C	TMEM26_ENST00000507507.1_5'UTR	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	272						integral to membrane				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					AGTATGAGACGCACGACAAGG	0.502													4	46					0	0	1	0	0	A	63170373	G	A	63170373	3	1	71	1	0	0	0	0	1	0	0	0	16211	1087	38	1	296	1	TMEM26	10	63170373	Missense_Mutation	SNP	G	TCGA-EJ-7315-01A-31D-2114-08		63170373	72364374	20	3641											
NLRP10	338322	broad.mit.edu	37	chr11	7981685	7981685	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcctttgcacttctctgcGggactccttccccagccggc	4	10	9	18	2	1	0	0	0	1	0	4	1	3	1	5	2	4	1	5	2	0	3			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr11:7981685G>A	ENST00000328600.2	-	2	1635	c.1474C>T	c.(1474-1476)Cgc>Tgc	p.R492C		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	492							ATP binding	p.R492C(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ACTTCTCTGCGGGACTCCTTC	0.498													31	60					0	0	1	0	0	A	7981685	G	A	7981685	3	1	71	1	0	0	0	0	1	0	0	0	10519	1116	39	1	497	1	NLRP10	11	7981685	Missense_Mutation	SNP	G	TCGA-EJ-7315-01A-31D-2114-08		7981685	127024831	21	3642											
ABCG4	64137	broad.mit.edu	37	chr11	119027721	119027721	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccatgccctccttgtccTccggtgagtaggggtggaga	5	9	14	13	1	0	2	0	1	0	1	3	3	3	2	6	4	1	1	6	4	1	2			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr11:119027721T>C	ENST00000307417.3	+	9	1429	c.1065T>C	c.(1063-1065)ccT>ccC	p.P355P	AP002956.1_ENST00000599663.1_Intron|ABCG4_ENST00000531739.1_Silent_p.P355P|ABCG4_ENST00000449422.2_Silent_p.P355P	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	355					cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CTCCTTGTCCTCCGGTGAGTA	0.607													3	107					0	0	1	0	0	C	119027721	T	C	119027721	2	2	71	1	0	0	0	0	0	0	0	1	70	1538	54	3		3	ABCG4	11	119027721	Silent	SNP	T	TCGA-EJ-7315-01A-31D-2114-08	111046036	119027721	15978795	22	3643											
NECAP1	25977	broad.mit.edu	37	chr12	8242592	8242592	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgcctccgaatcacttcaaaAgggaagactgcctatatcaa	14	8	7	12	2	3	1	3	0	0	1	4	3	4	2	3	1	1	0	3	1	7	3			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr12:8242592A>G	ENST00000339754.5	+	2	234	c.156A>G	c.(154-156)aaA>aaG	p.K52K		NM_015509.3	NP_056324.2	Q8NC96	NECP1_HUMAN	NECAP endocytosis associated 1	52					endocytosis|protein transport	clathrin coated vesicle membrane|plasma membrane				cervix(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				Kidney(36;0.0915)		TCACTTCAAAAGGGAAGACTG	0.438													3	124					0	0	1	0	0	G	8242592	A	G	8242592	2	3	71	1	0	0	0	0	0	0	0	1	10354	69	3	3		3	NECAP1	12	8242592	Silent	SNP	A	TCGA-EJ-7315-01A-31D-2114-08		8242592	125609303	23	3644											
ZBTB39	9880	broad.mit.edu	37	chr12	57397205	57397205	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagatgccgagatgggacagCgtgtgccacatgaggctgca	10	6	16	9	2	0	3	0	1	0	2	0	6	0	4	2	2	4	2	2	2	0	0			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr12:57397205C>T	ENST00000300101.2	-	2	1582	c.1497G>A	c.(1495-1497)acG>acA	p.T499T		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	499					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						GATGGGACAGCGTGTGCCACA	0.557													3	14					0	0	1	0	0	T	57397205	C	T	57397205	2	4	71	1	0	0	0	0	0	0	0	1	17599	755	27	1		1	ZBTB39	12	57397205	Silent	SNP	C	TCGA-EJ-7315-01A-31D-2114-08	49154613	57397205	76454690	24	3645											
MBD6	0	broad.mit.edu	37	chr12	57918089	57918089	+	Translation_Start_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagctgattacacacaatGaatgggggcaatgagagcag	14	6	15	6	0	0	3	0	3	0	1	0	5	0	4	0	3	3	3	0	3	4	1			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr12:57918089G>T	ENST00000355673.3	+	3	359	c.3G>T	c.(1-3)atG>atT	p.M1I	MBD6_ENST00000431731.2_Start_Codon_SNP_p.M1I|MBD6_ENST00000549231.1_3'UTR	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	1						chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						TACACACAATGAATGGGGGCA	0.572													4	80					1.024e-07	1.21018e-07	1	1	0	T	57918089	G	T	57918089	1	4	71	1	0	0	0	0	0	0	0	0	9398	1290	45	4		4	MBD6	12	57918089	Translation_Start_Site	SNP	G	TCGA-EJ-7315-01A-31D-2114-08	520884	57918089	75933806	25	3646											
FAH	2184	broad.mit.edu	37	chr15	80472567	80472567	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgggaccatcagcgggccGgtgagtatctggctgcactg	6	9	15	11	2	3	1	1	1	2	0	3	2	3	2	2	4	2	3	2	4	1	1			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr15:80472567G>A	ENST00000539156.1	+	11	3090	c.852_splice	c.e11+1	p.P284_splice	FAH_ENST00000561421.1_Splice_Site_p.P354_splice|FAH_ENST00000407106.1_Splice_Site_p.P354_splice|FAH_ENST00000261755.5_Splice_Site_p.P354_splice			P16930	FAAA_HUMAN	fumarylacetoacetate hydrolase (fumarylacetoacetase)	354					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCAGCGGGCCGGTGAGTATCT	0.637									Tyrosinemia, type 1				3	39					0	0	1	0	0	A	80472567	G	A	80472567	5	1	71	1	0	0	0	0	0	0	1	0	5402	1130	39	1	1108	1	FAH	15	80472567	Splice_Site	SNP	G	TCGA-EJ-7315-01A-31D-2114-08		80472567	22058825	26	3647											
GTF3C1	2975	broad.mit.edu	37	chr16	27506671	27506671	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgcctgactcctgctttatCgttctccgttcactgatgaa	6	15	7	13	2	2	3	1	3	1	0	5	3	3	3	3	0	2	3	3	0	2	4			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr16:27506671C>T	ENST00000356183.4	-	15	2508	c.2493G>A	c.(2491-2493)acG>acA	p.T831T	GTF3C1_ENST00000561623.1_Silent_p.T831T	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	831						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CCTGCTTTATCGTTCTCCGTT	0.602													5	45					0	0	1	0	0	T	27506671	C	T	27506671	2	4	71	1	0	0	0	0	0	0	0	1	6913	871	31	1		1	GTF3C1	16	27506671	Silent	SNP	C	TCGA-EJ-7315-01A-31D-2114-08		27506671	62848082	27	3648											
SALL1	6299	broad.mit.edu	37	chr16	51175105	51175105	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggtaactgccgctgccaatAtgttcatattgggagaagag	11	11	12	7	1	1	2	1	0	0	2	1	3	1	2	2	2	3	3	2	2	5	5			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr16:51175105A>G	ENST00000440970.1	-	2	1168	c.737T>C	c.(736-738)aTa>aCa	p.I246T	SALL1_ENST00000251020.4_Missense_Mutation_p.I343T|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	343					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CGCTGCCAATATGTTCATATT	0.532													5	143					0	0	1	0	0	G	51175105	A	G	51175105	3	3	71	1	0	0	0	0	1	0	0	0	13862	449	16	3	2954	3	SALL1	16	51175105	Missense_Mutation	SNP	A	TCGA-EJ-7315-01A-31D-2114-08	23668434	51175105	39179648	28	3649											
EDC4	23644	broad.mit.edu	37	chr16	67909965	67909965	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcaaacaagactggtcttcGgaccatgccacccattaacc	13	7	7	14	1	1	1	0	0	1	1	2	2	1	2	4	2	4	1	4	2	3	2			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr16:67909965G>A	ENST00000358933.5	+	2	439	c.200G>A	c.(199-201)cGg>cAg	p.R67Q		NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	67					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		ACTGGTCTTCGGACCATGCCA	0.532													33	113					0	0	1	0	0	A	67909965	G	A	67909965	3	1	71	1	0	0	0	0	1	0	0	0	4934	1116	39	1	206	1	EDC4	16	67909965	Missense_Mutation	SNP	G	TCGA-EJ-7315-01A-31D-2114-08	16734860	67909965	22444788	29	3650											
TP53	7157	broad.mit.edu	37	chr17	7574018	7574018	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctcggaacatctcgaagcGctcacgcccacggatctgca	9	7	9	16	5	4	0	1	0	3	0	6	3	4	2	1	2	3	2	1	2	2	0			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr17:7574018G>A	ENST00000269305.4	-	10	1198	c.1009C>T	c.(1009-1011)Cgc>Tgc	p.R337C	TP53_ENST00000420246.2_3'UTR|TP53_ENST00000359597.4_Intron|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R337C|TP53_ENST00000455263.2_3'UTR	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	337	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R337C(18)|p.0?(8)|p.R337fs*8(2)|p.R337G(1)|p.?(1)|p.I332fs*5(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)		ATCTCGAAGCGCTCACGCCCA	0.522		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)			6	30					0	0	1	0	0	A	7574018	G	A	7574018	3	1	71	1	0	0	0	0	1	0	0	0	16442	1087	38	1	180	1	TP53	17	7574018	Missense_Mutation	SNP	G	TCGA-EJ-7315-01A-31D-2114-08		7574018	73621192	30	3651											
NT5M	56953	broad.mit.edu	37	chr17	17250219	17250219	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcaggctgcactcgtgggcGgacgactggaaggccattct	7	7	15	12	4	1	0	0	0	1	0	2	3	1	2	1	5	1	3	1	5	1	1			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr17:17250219G>A	ENST00000389022.4	+	5	861	c.645G>A	c.(643-645)gcG>gcA	p.A215A	NT5M_ENST00000582909.1_3'UTR	NM_020201.3	NP_064586.1	Q9NPB1	NT5M_HUMAN	5',3'-nucleotidase, mitochondrial	215					DNA replication|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	5'-nucleotidase activity|metal ion binding|nucleotide binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						ACTCGTGGGCGGACGACTGGA	0.692													3	62					0	0	1	0	0	A	17250219	G	A	17250219	2	1	71	1	0	0	0	0	0	0	0	1	10742	1103	39	1		1	NT5M	17	17250219	Silent	SNP	G	TCGA-EJ-7315-01A-31D-2114-08	9676201	17250219	63944991	31	3652											
GSDMB	55876	broad.mit.edu	37	chr17	38073351	38073351	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccttggagcccagaatcCagttcatctaaccacttgtc	10	11	7	13	0	2	2	1	1	1	1	4	3	3	3	4	1	2	1	4	1	2	4			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr17:38073351C>T	ENST00000394175.2	-	1	442	c.219G>A	c.(217-219)ctG>ctA	p.L73L	GSDMB_ENST00000418519.1_Silent_p.L73L|GSDMB_ENST00000394179.1_Silent_p.L73L|GSDMB_ENST00000360317.3_Silent_p.L73L|GSDMB_ENST00000520542.1_Silent_p.L73L|GSDMB_ENST00000309481.7_Silent_p.L73L	NM_018530.2	NP_061000.2	Q8TAX9	GSDMB_HUMAN	gasdermin B	73						cytoplasm				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						GCCCAGAATCCAGTTCATCTA	0.507													7	91					0	0	1	0	0	T	38073351	C	T	38073351	2	4	71	1	0	0	0	0	0	0	0	1	6858	581	21	2		2	GSDMB	17	38073351	Silent	SNP	C	TCGA-EJ-7315-01A-31D-2114-08	20823132	38073351	43121859	32	3653											
STAT3	6774	broad.mit.edu	37	chr17	40481653	40481653	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgtttgtgcccagaatgttAaatttccgggatctgaatca	10	14	10	7	1	2	2	1	1	1	1	3	3	3	3	2	1	1	2	2	1	4	3			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr17:40481653A>C	ENST00000264657.5	-	13	1464	c.1152T>G	c.(1150-1152)ttT>ttG	p.F384L	STAT3_ENST00000585517.1_Missense_Mutation_p.F384L|STAT3_ENST00000588969.1_Missense_Mutation_p.F384L|STAT3_ENST00000404395.3_Missense_Mutation_p.F384L|STAT3_ENST00000389272.3_Missense_Mutation_p.F286L	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	384			F -> L (in AD-HIES).|F -> S (in AD-HIES).		cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		CCAGAATGTTAAATTTCCGGG	0.458									Hyperimmunoglobulin E Recurrent Infection Syndrome				3	88					0	0	1	0	0	C	40481653	A	C	40481653	3	2	71	1	0	0	0	0	1	0	0	0	15322	359	13	5	1208	5	STAT3	17	40481653	Missense_Mutation	SNP	A	TCGA-EJ-7315-01A-31D-2114-08	2408302	40481653	40713557	33	3654											
SMAD4	4089	broad.mit.edu	37	chr18	48591894	48591894	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctattgttactgttgatggaTacgtggacccttctggagga	8	14	12	7	1	1	1	0	1	1	0	1	5	1	5	1	4	2	2	1	4	3	6			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr18:48591894T>A	ENST00000342988.3	+	9	1595	c.1057T>A	c.(1057-1059)Tac>Aac	p.Y353N	SMAD4_ENST00000588745.1_Missense_Mutation_p.Y257N|SMAD4_ENST00000398417.2_Missense_Mutation_p.Y353N	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	353	MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TGTTGATGGATACGTGGACCC	0.438													25	42					0	0	1	0	0	A	48591894	T	A	48591894	3	1	71	1	0	0	0	0	1	0	0	0	14814	1406	49	5	1087	5	SMAD4	18	48591894	Missense_Mutation	SNP	T	TCGA-EJ-7315-01A-31D-2114-08		48591894	29485354	34	3655											
PIAS4	51588	broad.mit.edu	37	chr19	4037775	4037777	+	In_Frame_Del	DEL	GAG	GAG	-																															gctcatcgtcctcggaggatGaggaggaggaggaagaggag																										TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr19:4037775_4037777delGAG	ENST00000262971.2	+	11	1550_1552	c.1435_1437delGAG	c.(1435-1437)del	p.E487del		NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	487	Asp/Glu-rich (acidic).				positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCggaggatgaggaggaggagg	0.7													4	4	---	---	---	---						-	4037777	GAG	-	4037775	7	5	71	1	0	1	0	1	0	0	0	0	11926	1291	45	0	1477	0	PIAS4	19	4037775	In_Frame_Del	DEL	GAG	TCGA-EJ-7315-01A-31D-2114-08		4037775	55091208	35	3656											
HDGFRP2	0	broad.mit.edu	37	chr19	4493799	4493801	+	In_Frame_Del	DEL	TCC	TCC	-																															cggcgtcctcctcctcctctTcctcctcctcctccgactcc																										TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr19:4493799_4493801delTCC	ENST00000301284.4	+	7	842_844	c.778_780delTCC	c.(778-780)del	p.S264del	HDGFRP2_ENST00000586684.1_In_Frame_Del_p.S264del	NM_001001520.1|NM_032631.2	NP_001001520.1|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		264	Ser-rich.				transcription, DNA-dependent	nucleus	DNA binding|protein binding										ctcctcctcttcctcctcctcct	0.675													3	6	---	---	---	---						-	4493801	TCC	-	4493799	7	5	71	1	0	1	0	1	0	0	0	0	7061	1783	62	0	804	0	HDGFRP2	19	4493799	In_Frame_Del	DEL	TCC	TCGA-EJ-7315-01A-31D-2114-08	456024	4493799	54635184	36	3657											
ANGPTL6	83854	broad.mit.edu	37	chr19	10203390	10203390	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgccgtggtgccacacacCgttgaggttggagtgggcac	6	7	16	12	3	0	1	0	1	0	0	0	2	0	2	4	4	1	3	4	4	0	2			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr19:10203390C>T	ENST00000253109.4	-	6	1526	c.1288G>A	c.(1288-1290)Ggt>Agt	p.G430S	C19orf66_ENST00000591813.1_3'UTR|ANGPTL6_ENST00000589181.1_Missense_Mutation_p.G390S|ANGPTL6_ENST00000592641.1_Missense_Mutation_p.G430S|C19orf66_ENST00000397881.3_3'UTR|C19orf66_ENST00000253110.11_3'UTR	NM_031917.2	NP_114123.2	Q8NI99	ANGL6_HUMAN	angiopoietin-like 6	430	Fibrinogen C-terminal.				angiogenesis|cell differentiation|signal transduction	extracellular space	receptor binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)	12			OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)			TGCCACACACCGTTGAGGTTG	0.607													12	33					0	0	1	0	0	T	10203390	C	T	10203390	3	4	71	1	0	0	0	0	1	0	0	0	614	652	23	1	128	1	ANGPTL6	19	10203390	Missense_Mutation	SNP	C	TCGA-EJ-7315-01A-31D-2114-08	5709591	10203390	48925593	37	3658											
RPS11	6205	broad.mit.edu	37	chr19	50002830	50002830	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcctctgagcaagacagtgCgcttcaacgtgctcaaggtc	9	8	12	12	2	3	2	2	1	1	1	4	2	3	2	1	2	4	3	1	2	3	1	rs11549537		TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr19:50002830C>A	ENST00000270625.2	+	5	498	c.415C>A	c.(415-417)Cgc>Agc	p.R139S	RPS11_ENST00000599561.1_3'UTR|RPS11_ENST00000594493.1_Missense_Mutation_p.R60S	NM_001015.4	NP_001006.1	P62280	RS11_HUMAN	ribosomal protein S11	139					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|rRNA binding|structural constituent of ribosome			kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	7		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00206)|GBM - Glioblastoma multiforme(486;0.0245)		CAAGACAGTGCGCTTCAACGT	0.597													3	66					1	1	1	1	0	A	50002830	C	A	50002830	3	1	71	1	0	0	0	0	1	0	0	0	13673	768	27	4	433	4	RPS11	19	50002830	Missense_Mutation	SNP	C	TCGA-EJ-7315-01A-31D-2114-08	39799440	50002830	9126153	38	3659											
BAGE2	85319	broad.mit.edu	37	chr21	11056763	11056763	+	RNA	DEL	T	T	-																															gtagcactgccattgagtaaTaaaatgttccaatattagag																								rs2838178		TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	35f9f6e3-a269-4b6d-a218-677ab3905fa8	g.chr21:11056763delT	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)		CATTGAGTAATAAAATGTTCC	0.299													5	3	---	---	---	---						-	11056763	T	-	11056763	6	5	71	0	1	1	0	1	0	0	0	0	1290	1421	49	0		0	BAGE2	21	11056763	RNA	DEL	T	TCGA-EJ-7315-01A-31D-2114-08		11056763	37073132	39	3660											
CSNK1E	1454	broad.mit.edu	37	chr22	38695932	38695932	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcagaggacctcgatgggcGttgacatcttcttctcgctg	6	12	12	11	3	3	2	0	1	3	1	5	4	3	3	1	2	1	3	1	2	0	3			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr22:38695932G>A	ENST00000396832.1	-	6	964	c.704C>T	c.(703-705)aCg>aTg	p.T235M	CSNK1E_ENST00000405675.3_Missense_Mutation_p.T235M|CSNK1E_ENST00000359867.3_Missense_Mutation_p.T235M|CSNK1E_ENST00000498529.1_5'UTR|CSNK1E_ENST00000413574.2_Missense_Mutation_p.T235M|CSNK1E_ENST00000403904.1_Missense_Mutation_p.T235M|CSNK1E_ENST00000400206.2_Missense_Mutation_p.T235M	NM_152221.2	NP_689407.1	P49674	KC1E_HUMAN	casein kinase 1, epsilon	235	Protein kinase.				DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Melanoma(58;0.045)					CTCGATGGGCGTTGACATCTT	0.597													4	180					0	0	1	0	0	A	38695932	G	A	38695932	3	1	71	1	0	0	0	0	1	0	0	0	3978	1145	40	1	566	1	CSNK1E	22	38695932	Missense_Mutation	SNP	G	TCGA-EJ-7315-01A-31D-2114-08		38695932	12608634	40	3661											
TTLL12	23170	broad.mit.edu	37	chr22	43578990	43578991	+	Frame_Shift_Ins	INS	-	-	G																															tggccaggctcctacctgttINSggggtgggctgcctggagcc																								rs34872708		TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chr22:43578990_43578991insG	ENST00000216129.6	-	2	405_406	c.342_343insC	c.(340-345)ccacagfs	p.Q115fs		NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	115					protein modification process		tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				TCCTACCTGTTGGGGTGGGCTG	0.639													18	32	---	---	---	---						G	43578991	-	G	43578990	7	5	71	1	0	1	1	0	0	0	0	0	16787	1812	63	0	1643	0	TTLL12	22	43578990	Frame_Shift_Ins	INS	-	TCGA-EJ-7315-01A-31D-2114-08	4883058	43578990	7725576	41	3662											
P2RY4	5030	broad.mit.edu	37	chrX	69479042	69479042	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggcgagggcggccccagcGtagtgcccgaagtgggtggc	6	4	20	11	4	0	0	0	0	0	0	0	3	0	0	3	5	2	1	3	5	2	1			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chrX:69479042G>A	ENST00000374519.2	-	1	612	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C		NM_002565.3	NP_002556.1	P51582	P2RY4_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 4	145					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						CGGCCCCAGCGTAGTGCCCGA	0.597													3	19					0	0	1	0	0	A	69479042	G	A	69479042	3	1	71	1	0	0	0	0	1	0	0	0	11400	1145	40	1	668	1	P2RY4	23	69479042	Missense_Mutation	SNP	G	TCGA-EJ-7315-01A-31D-2114-08		69479042	85791518	42	3663											
CTAG2	30848	broad.mit.edu	37	chrX	153881613	153881613	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgcggaccccgcggggcGcctcctctcggccccgaggc	3	4	14	20	6	1	0	0	0	1	0	3	2	2	1	7	5	1	0	7	5	0	0			TCGA-EJ-7315-01A-31D-2114-08	TCGA-EJ-7315-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11afac2e-9d8e-455c-8276-8cb5bdce0537	3aaa44ac-302b-430c-b503-d0de1f251a57	g.chrX:153881613G>A	ENST00000247306.4	-	1	240	c.177C>T	c.(175-177)ggC>ggT	p.G59G	CTAG2_ENST00000369585.3_Silent_p.G59G	NM_020994.3	NP_066274.1	O75638	CTAG2_HUMAN	cancer/testis antigen 2	59	Gly-rich.					centrosome				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCCGCGGGGCGCCTCCTCTCG	0.756													13	2					0	0	1	0	0	A	153881613	G	A	153881613	2	1	71	1	0	0	0	0	0	0	0	1	4016	1074	38	1		1	CTAG2	23	153881613	Silent	SNP	G	TCGA-EJ-7315-01A-31D-2114-08	84402571	153881613	1388947	43	3664											
IPO13	9670	broad.mit.edu	37	chr1	44415596	44415596	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaccagcctggcggtggaaTgtggggctgtcttcccgctg	4	9	17	11	2	1	0	0	0	1	0	2	2	2	2	3	6	1	2	3	6	1	1			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr1:44415596T>G	ENST00000372343.3	+	2	1254	c.592T>G	c.(592-594)Tgt>Ggt	p.C198G		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	198					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				GGCGGTGGAATGTGGGGCTGT	0.622													3	16					0	0	0.150653	0	0	G	44415596	T	G	44415596	3	3	72	1	0	0	0	0	1	0	0	0	7838	1464	51	5	598	5	IPO13	1	44415596	Missense_Mutation	SNP	T	TCGA-EJ-7317-01A-31D-2114-08		44415596	204835025	1	3665											
ATP6V0B	533	broad.mit.edu	37	chr1	44442867	44442867	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agcgccattggcctctttggGgtcatcgtcgcaattcttca	6	13	10	12	3	4	0	2	0	2	0	6	0	4	0	2	3	1	1	2	3	1	4			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr1:44442867G>C	ENST00000532642.1	+	7	667	c.570G>C	c.(568-570)ggG>ggC	p.G190G	ATP6V0B_ENST00000498664.1_Silent_p.G143G|ATP6V0B_ENST00000471859.2_Silent_p.G237G|ATP6V0B_ENST00000236067.4_Silent_p.G143G|ATP6V0B_ENST00000472174.2_Silent_p.G190G|ATP6V0B_ENST00000472277.1_3'UTR			Q99437	VATO_HUMAN	ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b	190					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuolar membrane	hydrogen ion transmembrane transporter activity			breast(2)|kidney(1)|large_intestine(3)|lung(3)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				GCCTCTTTGGGGTCATCGTCG	0.557													26	82					0	0	0.740014	0	0	C	44442867	G	C	44442867	2	2	72	1	0	0	0	0	0	0	0	1	1169	1219	43	4		4	ATP6V0B	1	44442867	Silent	SNP	G	TCGA-EJ-7317-01A-31D-2114-08	27271	44442867	204807754	2	3666											
WDR26	80232	broad.mit.edu	37	chr1	224621773	224621775	+	In_Frame_Del	DEL	CCT	CCT	-																															ctccaccgccgccgccgccaCctcctcctcctcctcctgcc																										TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr1:224621773_224621775delCCT	ENST00000414423.2	-	1	226_228	c.33_35delAGG	c.(31-36)ggt>gg	p.GG23del	WDR26_ENST00000366852.2_In_Frame_Del_p.GG23del|WDR26_ENST00000295024.6_5'UTR	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	23						cytoplasm|nucleus				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		gccgccgccacctcctcctcctc	0.739													3	3	---	---	---	---						-	224621775	CCT	-	224621773	7	5	72	1	0	1	0	1	0	0	0	0	17343	507	18	0	2006	0	WDR26	1	224621773	In_Frame_Del	DEL	CCT	TCGA-EJ-7317-01A-31D-2114-08	180178906	224621773	24628848	3	3667											
RYR2	6262	broad.mit.edu	37	chr1	237796915	237796915	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatggtggccaactgttgccGttttctctgttacttctgtc	4	17	10	10	1	2	0	0	0	2	0	4	1	2	0	2	2	3	3	2	2	2	5			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr1:237796915G>A	ENST00000366574.2	+	43	6910	c.6593G>A	c.(6592-6594)cGt>cAt	p.R2198H	RYR2_ENST00000360064.6_Missense_Mutation_p.R2196H|RYR2_ENST00000542537.1_Missense_Mutation_p.R2182H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2198	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AACTGTTGCCGTTTTCTCTGT	0.388													49	130					0	0	0.870114	0	0	A	237796915	G	A	237796915	3	1	72	1	0	0	0	0	1	0	0	0	13821	1145	40	1	6763	1	RYR2	1	237796915	Missense_Mutation	SNP	G	TCGA-EJ-7317-01A-31D-2114-08	13175142	237796915	11453706	4	3668											
OR2M4	26245	broad.mit.edu	37	chr1	248403030	248403030	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagaccagcttctaaacataCgccagaccaggacaagatgg	15	5	10	11	1	1	3	0	0	1	3	1	5	1	4	3	2	3	1	3	2	4	3	rs144697226	byFrequency	TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr1:248403030C>T	ENST00000306687.1	+	1	800	c.800C>T	c.(799-801)aCg>aTg	p.T267M		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T267M(2)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCTAAACATACGCCAGACCAG	0.517													12	93					0	0	0.435327	0	0	T	248403030	C	T	248403030	3	4	72	1	0	0	0	0	1	0	0	0	11060	536	19	1	802	1	OR2M4	1	248403030	Missense_Mutation	SNP	C	TCGA-EJ-7317-01A-31D-2114-08	10606115	248403030	847591	5	3669											
C2orf71	388939	broad.mit.edu	37	chr2	29295352	29295352	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacgactctgactgggacctCgtctgcctctcaggggccct	5	9	11	16	2	3	1	1	1	3	0	5	3	3	2	3	3	1	0	3	3	0	0			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr2:29295352C>T	ENST00000331664.5	-	1	1775	c.1776G>A	c.(1774-1776)acG>acA	p.T592T		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	592					response to stimulus|visual perception	photoreceptor outer segment		p.T592T(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						ACTGGGACCTCGTCTGCCTCT	0.632													9	61					0	0	0.361761	0	0	T	29295352	C	T	29295352	2	4	72	1	0	0	0	0	0	0	0	1	2205	871	31	1		1	C2orf71	2	29295352	Silent	SNP	C	TCGA-EJ-7317-01A-31D-2114-08		29295352	213904021	6	3670											
CCDC88A	55704	broad.mit.edu	37	chr2	55582770	55582770	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atctgccagttccaccgacaGatgttgtcgactttctgttc	7	14	8	12	2	2	1	0	0	2	1	5	3	3	1	3	0	1	3	3	0	0	4			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr2:55582770G>C	ENST00000436346.1	-	8	1586	c.745C>G	c.(745-747)Ctg>Gtg	p.L249V	CCDC88A_ENST00000336838.6_Missense_Mutation_p.L249V|CCDC88A_ENST00000413716.2_Missense_Mutation_p.L249V|CCDC88A_ENST00000263630.8_Missense_Mutation_p.L249V	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	249					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TCCACCGACAGATGTTGTCGA	0.463													34	53					0	0	0.847076	0	0	C	55582770	G	C	55582770	3	2	72	1	0	0	0	0	1	0	0	0	2883	933	33	4	4970	4	CCDC88A	2	55582770	Missense_Mutation	SNP	G	TCGA-EJ-7317-01A-31D-2114-08	26287418	55582770	187616603	7	3671											
SEMA4C	54910	broad.mit.edu	37	chr2	97530551	97530551	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccagttcggggcagagcAtgccagccgcgccttcagga	7	6	14	14	3	1	1	1	0	0	1	2	2	1	2	4	3	4	3	4	3	0	2			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr2:97530551A>G	ENST00000305476.5	-	9	985	c.853T>C	c.(853-855)Tgc>Cgc	p.C285R		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	285	Dominant negative effect on myogenic differentiation (By similarity).|Sema.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						GGGGCAGAGCATGCCAGCCGC	0.632													4	61					0	0	0.150653	0	0	G	97530551	A	G	97530551	3	3	72	1	0	0	0	0	1	0	0	0	14087	217	8	3	1676	3	SEMA4C	2	97530551	Missense_Mutation	SNP	A	TCGA-EJ-7317-01A-31D-2114-08	41947781	97530551	145668822	8	3672											
FKBP7	51661	broad.mit.edu	37	chr2	179343217	179343217	+	Frame_Shift_Del	DEL	T	T	-																															tctgaataagaaatgcatggTttttggcatcggctccagca																										TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr2:179343217delT	ENST00000424785.2	-	1	68	c.10delA	c.(10-12)ccfs	p.T4fs	FKBP7_ENST00000464248.1_5'UTR|FKBP7_ENST00000434643.2_Frame_Shift_Del_p.T4fs	NM_001135212.1|NM_181342.2	NP_001128684.1|NP_851939.1	Q9Y680	FKBP7_HUMAN	FK506 binding protein 7	4					protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			AAATGCATGGTTTTTGGCATC	0.522													7	303	---	---	---	---						-	179343217	T	-	179343217	7	5	72	1	0	1	0	1	0	0	0	0	5946	1725	60	0	674	0	FKBP7	2	179343217	Frame_Shift_Del	DEL	T	TCGA-EJ-7317-01A-31D-2114-08	81812666	179343217	63856156	9	3673											
CRYBG3	131544	broad.mit.edu	37	chr3	97618049	97618049	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaaaaagggaaatacaaatGcttttttgactggggaggat	16	10	12	3	0	0	2	0	1	0	1	0	5	0	5	0	4	2	1	0	4	5	4			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr3:97618049G>C	ENST00000182096.4	+	11	2133	c.2069G>C	c.(2068-2070)tGc>tCc	p.C690S		NM_153605.3	NP_705833.3			beta-gamma crystallin domain containing 3											breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						AAATACAAATGCTTTTTTGAC	0.358													25	50					0	0	0.717897	0	0	C	97618049	G	C	97618049	3	2	72	1	0	0	0	0	1	0	0	0	3936	1319	46	4	2111	4	CRYBG3	3	97618049	Missense_Mutation	SNP	G	TCGA-EJ-7317-01A-31D-2114-08		97618049	100404381	10	3674											
KIAA1257	57501	broad.mit.edu	37	chr3	128696988	128696988	+	Frame_Shift_Del	DEL	T	T	-																															ttggtattctcaatgccctgTtcagataattttctctgatt																										TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr3:128696988delT	ENST00000265068.5	-	5	875	c.708delA	c.(706-708)gafs	p.E236fs	KIAA1257_ENST00000510149.1_5'UTR|KIAA1257_ENST00000511438.1_Frame_Shift_Del_p.E236fs|KIAA1257_ENST00000515659.1_Frame_Shift_Del_p.E124fs	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	236										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						CAATGCCCTGTTCAGATAATT	0.358													7	66	---	---	---	---						-	128696988	T	-	128696988	7	5	72	1	0	1	0	1	0	0	0	0	8260	1722	60	0	537	0	KIAA1257	3	128696988	Frame_Shift_Del	DEL	T	TCGA-EJ-7317-01A-31D-2114-08	31078939	128696988	69325442	11	3675											
SPATA16	83893	broad.mit.edu	37	chr3	172835445	172835445	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggacattttcttgcttgtgTttatctttggaacaagctga	8	18	9	6	0	2	1	0	1	2	0	2	3	2	3	0	2	3	3	0	2	3	7			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr3:172835445T>C	ENST00000351008.3	-	2	260	c.77A>G	c.(76-78)aAc>aGc	p.N26S		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	26					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			CTTGCTTGTGTTTATCTTTGG	0.433													7	198					0	0	0.27861	0	0	C	172835445	T	C	172835445	3	2	72	1	0	0	0	0	1	0	0	0	15057	1725	60	3	1672	3	SPATA16	3	172835445	Missense_Mutation	SNP	T	TCGA-EJ-7317-01A-31D-2114-08	44138457	172835445	25186985	12	3676											
FRYL	285527	broad.mit.edu	37	chr4	48551612	48551612	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgctccatcactttcagtcgCcaattagaataaagtggcat	12	12	7	10	1	2	1	2	0	0	1	4	1	3	1	2	1	1	2	2	1	5	3			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr4:48551612C>T	ENST00000537810.1	-	39	5266	c.4662G>A	c.(4660-4662)tgG>tgA	p.W1554*	FRYL_ENST00000503238.1_Nonsense_Mutation_p.W1554*|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000358350.4_Nonsense_Mutation_p.W1554*|FRYL_ENST00000264319.7_5'UTR			O94915	FRYL_HUMAN	FRY-like	1554					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CTTTCAGTCGCCAATTAGAAT	0.438													28	53					0	0	0.750413	0	0	T	48551612	C	T	48551612	4	4	72	1	0	0	0	0	0	1	0	0	6099	740	26	2	4483	2	FRYL	4	48551612	Nonsense_Mutation	SNP	C	TCGA-EJ-7317-01A-31D-2114-08		48551612	142602664	13	3677											
UGT2B7	7364	broad.mit.edu	37	chr4	69973826	69973826	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcatccaatcctaggtcatCcaaagaccagagcttttata	13	12	5	11	0	2	2	2	0	0	2	5	2	5	2	4	1	1	1	4	1	5	5			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr4:69973826C>A	ENST00000305231.7	+	5	1142	c.1096C>A	c.(1096-1098)Cca>Aca	p.P366T	UGT2B7_ENST00000508661.1_Intron|UGT2B7_ENST00000509763.1_Intron	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	366					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCTAGGTCATCCAAAGACCAG	0.418													23	82					3.73988e-18	4.57813e-18	0.706142	1	0	A	69973826	C	A	69973826	3	1	72	1	0	0	0	0	1	0	0	0	17022	855	30	4	1114	4	UGT2B7	4	69973826	Missense_Mutation	SNP	C	TCGA-EJ-7317-01A-31D-2114-08	21422214	69973826	121180450	14	3678											
CENPE	1062	broad.mit.edu	37	chr4	104041395	104041395	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgctattatgtcattagtCacctcaagttctttctgcat	8	19	5	9	0	5	0	3	0	2	0	5	0	5	0	1	0	2	3	1	0	4	6			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr4:104041395C>T	ENST00000265148.3	-	44	7328	c.7239G>A	c.(7237-7239)gtG>gtA	p.V2413V	CENPE_ENST00000380026.3_Silent_p.V2292V	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2413	Kinetochore-binding domain.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TGTCATTAGTCACCTCAAGTT	0.323													5	18					0	0	0.184627	0	0	T	104041395	C	T	104041395	2	4	72	1	0	0	0	0	0	0	0	1	3252	813	29	2		2	CENPE	4	104041395	Silent	SNP	C	TCGA-EJ-7317-01A-31D-2114-08	34067569	104041395	87112881	15	3679											
ENPEP	2028	broad.mit.edu	37	chr4	111397722	111397722	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagcggggacggcgggcCgggcactgcgccagctcctt	4	5	16	16	5	0	0	0	0	0	0	2	1	2	1	4	5	3	2	4	5	0	1			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr4:111397722C>T	ENST00000265162.5	+	1	494	c.152C>T	c.(151-153)cCg>cTg	p.P51L		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	51					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	GACGGCGGGCCGGGCACTGCG	0.647													4	149					0	0	0.150653	0	0	T	111397722	C	T	111397722	3	4	72	1	0	0	0	0	1	0	0	0	5156	652	23	1	154	1	ENPEP	4	111397722	Missense_Mutation	SNP	C	TCGA-EJ-7317-01A-31D-2114-08	7356327	111397722	79756554	16	3680											
DNAH5	1767	broad.mit.edu	37	chr5	13735947	13735947	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctggctaaggaaaggtcaaaTaagcccagaaactggcgaag	16	5	12	8	1	1	1	1	0	0	1	1	3	1	2	1	4	2	1	1	4	6	2			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr5:13735947T>C	ENST00000265104.4	-	67	11654	c.11550A>G	c.(11548-11550)ttA>ttG	p.L3850L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3850					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AAAGGTCAAATAAGCCCAGAA	0.453									Kartagener syndrome				6	142					0	0	0.307466	0	0	C	13735947	T	C	13735947	2	2	72	1	0	0	0	0	0	0	0	1	4632	1403	49	3		3	DNAH5	5	13735947	Silent	SNP	T	TCGA-EJ-7317-01A-31D-2114-08		13735947	167179313	17	3681											
PPWD1	23398	broad.mit.edu	37	chr5	64872761	64872761	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accagacatggaatttggccGacgaatggctgtagaacgtg	12	8	13	8	3	0	2	0	0	0	2	0	5	0	3	2	3	1	2	2	3	4	2			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr5:64872761G>A	ENST00000261308.5	+	6	1097	c.1025G>A	c.(1024-1026)cGa>cAa	p.R342Q	PPWD1_ENST00000538977.1_Missense_Mutation_p.R186Q|PPWD1_ENST00000535264.1_Missense_Mutation_p.R312Q	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat containing 1	342					protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		GAATTTGGCCGACGAATGGCT	0.368													16	127					0	0	0.592651	0	0	A	64872761	G	A	64872761	3	1	72	1	0	0	0	0	1	0	0	0	12463	1058	37	1	1047	1	PPWD1	5	64872761	Missense_Mutation	SNP	G	TCGA-EJ-7317-01A-31D-2114-08	51136814	64872761	116042499	18	3682											
CCNB1	891	broad.mit.edu	37	chr5	68470883	68470883	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctaagagctttaaacttTggtctgggtcggcctctacc	8	14	9	10	1	3	1	0	0	3	1	4	1	3	1	2	3	3	1	2	3	4	6			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr5:68470883T>C	ENST00000256442.5	+	6	1138	c.885T>C	c.(883-885)ttT>ttC	p.F295F		NM_031966.3	NP_114172.1	P14635	CCNB1_HUMAN	cyclin B1	295					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitotic cell cycle spindle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|mitotic spindle stabilization|positive regulation of attachment of spindle microtubules to kinetochore|positive regulation of mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	condensed nuclear chromosome outer kinetochore|cytosol|microtubule organizing center|nucleoplasm|spindle pole				large_intestine(2)|lung(5)|skin(1)	8		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		CTTTAAACTTTGGTCTGGGTC	0.438													6	127					0	0	0.335167	0	0	C	68470883	T	C	68470883	2	2	72	1	0	0	0	0	0	0	0	1	2933	1809	63	3		3	CCNB1	5	68470883	Silent	SNP	T	TCGA-EJ-7317-01A-31D-2114-08	3598122	68470883	112444377	19	3683											
THBS4	7060	broad.mit.edu	37	chr5	79372774	79372776	+	In_Frame_Del	DEL	TGA	TGA	-																															gatggaattggtgacgagtgTgatgatgatgatgacaatga																										TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr5:79372774_79372776delTGA	ENST00000350881.2	+	16	2179_2181	c.1989_1991delTGA	c.(1987-1992)tgt>tg	p.CD663del	THBS4_ENST00000511733.1_In_Frame_Del_p.CD572del|CTD-2201I18.1_ENST00000503007.1_RNA|CTD-2201I18.1_ENST00000514042.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	663					endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GTGACGAGTGTGATGATGATGAT	0.562													7	372	---	---	---	---						-	79372776	TGA	-	79372774	7	5	72	1	0	1	0	1	0	0	0	0	15916	1702	59	0	2051	0	THBS4	5	79372774	In_Frame_Del	DEL	TGA	TCGA-EJ-7317-01A-31D-2114-08	10901891	79372774	101542486	20	3684											
KIF20A	10112	broad.mit.edu	37	chr5	137520549	137520549	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcttttgaaggaacgacaGgaaaagctacagctggagat	14	8	12	7	1	0	2	0	1	0	1	0	6	0	4	0	3	5	3	0	3	5	3	rs114549959	by1000genomes	TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr5:137520549G>A	ENST00000394894.3	+	14	1963	c.1737G>A	c.(1735-1737)caG>caA	p.Q579Q	KIF20A_ENST00000508792.1_Silent_p.Q561Q	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A	579					cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport	Golgi apparatus|microtubule|nucleoplasm	ATP binding|microtubule motor activity|protein binding|transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AGGAACGACAGGAAAAGCTAC	0.488													33	88					0	0	0.812448	0	0	A	137520549	G	A	137520549	2	1	72	1	0	0	0	0	0	0	0	1	8328	991	35	2		2	KIF20A	5	137520549	Silent	SNP	G	TCGA-EJ-7317-01A-31D-2114-08	58147775	137520549	43394711	21	3685											
PCDHB10	0	broad.mit.edu	37	chr5	140572701	140572701	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgaaggcatgatatatccAgagctagtgttggacaaagc	14	9	12	6	0	0	3	0	2	0	1	1	5	1	4	1	2	2	3	1	2	5	4			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr5:140572701A>G	ENST00000239446.4	+	1	760	c.576A>G	c.(574-576)ccA>ccG	p.P192P		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		192	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGATATATCCAGAGCTAGTGT	0.502													79	174					0	0	0.870114	0	0	G	140572701	A	G	140572701	2	3	72	1	0	0	0	0	0	0	0	1	11582	175	7	3		3	PCDHB10	5	140572701	Silent	SNP	A	TCGA-EJ-7317-01A-31D-2114-08	3052152	140572701	40342559	22	3686											
CDHR2	54825	broad.mit.edu	37	chr5	176016426	176016426	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggtcctttcctggaagccaCcaccaccctgaatgtgagtg	8	9	11	13	0	0	2	0	2	0	0	2	3	2	3	6	2	1	0	6	2	2	1			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr5:176016426C>A	ENST00000510636.1	+	23	3378	c.3104C>A	c.(3103-3105)aCc>aAc	p.T1035N	CDHR2_ENST00000261944.5_Missense_Mutation_p.T1035N|CDHR2_ENST00000506348.1_Missense_Mutation_p.T1035N	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	1035	Cadherin 9.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CTGGAAGCCACCACCACCCTG	0.652													6	111					0.00116845	0.00129624	0.217242	1	0	A	176016426	C	A	176016426	3	1	72	1	0	0	0	0	1	0	0	0	3141	507	18	4	3190	4	CDHR2	5	176016426	Missense_Mutation	SNP	C	TCGA-EJ-7317-01A-31D-2114-08	35443725	176016426	4898834	23	3687											
HIST1H2BN	8341	broad.mit.edu	37	chr6	27806651	27806651	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccttcgtcaatgacatctTcgagcgcatcgccggcgagg	7	9	11	14	6	2	1	1	1	1	0	6	3	3	1	2	2	1	1	2	2	1	2			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr6:27806651T>G	ENST00000606613.1	+	1	273	c.212T>G	c.(211-213)tTc>tGc	p.F71C	HIST1H2BN_ENST00000396980.3_Missense_Mutation_p.F71C			Q99877	H2B1N_HUMAN	histone cluster 1, H2bn	71					nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(3)|lung(3)|prostate(1)	8						AATGACATCTTCGAGCGCATC	0.607													81	168					0	0	0.870114	0	0	G	27806651	T	G	27806651	3	3	72	1	0	0	0	0	1	0	0	0	7194	1783	62	5	214	5	HIST1H2BN	6	27806651	Missense_Mutation	SNP	T	TCGA-EJ-7317-01A-31D-2114-08		27806651	143308416	24	3688											
UST	10090	broad.mit.edu	37	chr6	149262511	149262511	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaatcttgtcggagaagcacGgatttaatttggtcacatca	12	12	10	7	2	3	1	2	0	1	1	4	4	3	2	0	3	1	1	0	3	3	4			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr6:149262511G>A	ENST00000367463.4	+	3	491	c.388G>A	c.(388-390)Gga>Aga	p.G130R		NM_005715.2	NP_005706.1	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase	130					protein sulfation	Golgi membrane|integral to membrane	sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2)	12		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		GGAGAAGCACGGATTTAATTT	0.433													56	136					0	0	0.870114	0	0	A	149262511	G	A	149262511	3	1	72	1	0	0	0	0	1	0	0	0	17153	1117	39	1	398	1	UST	6	149262511	Missense_Mutation	SNP	G	TCGA-EJ-7317-01A-31D-2114-08	121455860	149262511	21852556	25	3689											
ZC3H12D	340152	broad.mit.edu	37	chr6	149773804	149773804	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcttcggcttcctgctcagGaagttgctcagggagggtcc	5	10	15	11	1	2	0	2	0	0	0	5	2	4	2	2	5	2	5	2	5	1	3			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr6:149773804G>T	ENST00000389942.5	-	5	982	c.735C>A	c.(733-735)ttC>ttA	p.F245L	ZC3H12D_ENST00000409806.3_Missense_Mutation_p.F245L|ZC3H12D_ENST00000542614.1_Missense_Mutation_p.F245L|ZC3H12D_ENST00000416573.2_Missense_Mutation_p.F245L			A2A288	ZC12D_HUMAN	zinc finger CCCH-type containing 12D	245						cytoplasm|nucleus	endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921)		TCCTGCTCAGGAAGTTGCTCA	0.612													4	15					0.0293803	0.0316061	0.248553	1	0	T	149773804	G	T	149773804	3	4	72	1	0	0	0	0	1	0	0	0	17623	1165	41	4	856	4	ZC3H12D	6	149773804	Missense_Mutation	SNP	G	TCGA-EJ-7317-01A-31D-2114-08	511293	149773804	21341263	26	3690											
TMEM139	135932	broad.mit.edu	37	chr7	142983609	142983609	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agagttggaccaaccaccccCctacagcactgttgtgatac	11	8	8	14	0	0	2	0	1	0	1	0	3	0	3	5	1	4	3	5	1	3	4			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr7:142983609C>T	ENST00000359333.3	+	3	851	c.338C>T	c.(337-339)cCc>cTc	p.P113L	TMEM139_ENST00000409541.1_Missense_Mutation_p.P113L|TMEM139_ENST00000409244.1_Missense_Mutation_p.P113L|TMEM139_ENST00000410004.1_Missense_Mutation_p.P113L|AC073342.12_ENST00000446192.1_RNA|TMEM139_ENST00000471161.1_3'UTR|AC073342.12_ENST00000427392.1_RNA|TMEM139_ENST00000409102.1_Missense_Mutation_p.P113L	NM_001242775.1	NP_001229704.1	Q8IV31	TM139_HUMAN	transmembrane protein 139	113						integral to membrane				endometrium(1)|lung(4)|ovary(1)|prostate(1)	7	Melanoma(164;0.059)					CAACCACCCCCCTACAGCACT	0.577													50	100					0	0	0.870114	0	0	T	142983609	C	T	142983609	3	4	72	1	0	0	0	0	1	0	0	0	16114	623	22	2	344	2	TMEM139	7	142983609	Missense_Mutation	SNP	C	TCGA-EJ-7317-01A-31D-2114-08		142983609	16155054	27	3691											
GIMAP1	170575	broad.mit.edu	37	chr7	150417391	150417391	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagatcctggctgtgaggAgagaggtcactgctacctgc	9	8	14	10	0	1	3	1	1	0	2	2	6	2	4	2	3	3	2	2	3	1	1			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr7:150417391A>C	ENST00000307194.5	+	3	439	c.299A>C	c.(298-300)gAg>gCg	p.E100A		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1											NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGCTGTGAGGAGAGAGGTCAC	0.647													8	70					0	0	0.307466	0	0	C	150417391	A	C	150417391	3	2	72	1	0	0	0	0	1	0	0	0	6421	304	11	5	305	5	GIMAP1	7	150417391	Missense_Mutation	SNP	A	TCGA-EJ-7317-01A-31D-2114-08	7433782	150417391	8721272	28	3692											
PDGFRL	5157	broad.mit.edu	37	chr8	17447026	17447026	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgtccaaaagaaccaggagaGaatagaatcaaacctaccaa	20	4	7	10	1	1	3	1	0	0	3	2	5	2	4	4	1	3	0	4	1	9	2			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr8:17447026G>A	ENST00000541323.1	+	3	550	c.105G>A	c.(103-105)gaG>gaA	p.E35E	PDGFRL_ENST00000251630.6_Silent_p.E35E|PDGFRL_ENST00000398074.3_Silent_p.E35E	NM_006207.2	NP_006198.1	Q15198	PGFRL_HUMAN	platelet-derived growth factor receptor-like	35						extracellular region	platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9				Colorectal(111;0.0752)		AACCAGGAGAGAATAGAATCA	0.433													16	161					0	0	0.520397	0	0	A	17447026	G	A	17447026	2	1	72	1	0	0	0	0	0	0	0	1	11710	933	33	2		2	PDGFRL	8	17447026	Silent	SNP	G	TCGA-EJ-7317-01A-31D-2114-08		17447026	128916996	29	3693											
PRDM14	63978	broad.mit.edu	37	chr8	70978696	70978696	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatccagttccccgtaccTccttttccatctataaagtg	9	13	5	14	1	1	0	0	0	1	0	5	1	5	0	6	0	1	2	6	0	4	6			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr8:70978696T>C	ENST00000276594.2	-	5	1158	c.957A>G	c.(955-957)ggA>ggG	p.G319G		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	319	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			TCCCCGTACCTCCTTTTCCAT	0.403													3	181					0	0	0.115264	0	0	C	70978696	T	C	70978696	2	2	72	1	0	0	0	0	0	0	0	1	12507	1538	54	3		3	PRDM14	8	70978696	Silent	SNP	T	TCGA-EJ-7317-01A-31D-2114-08	53531670	70978696	75385326	30	3694											
CSMD3	114788	broad.mit.edu	37	chr8	113249577	113249577	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggcaaatacatcatcaggaActgtgaatagattaaatata	18	10	8	5	0	2	2	2	1	0	1	2	3	2	3	0	2	2	1	0	2	9	5			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr8:113249577A>G	ENST00000297405.5	-	67	10713	c.10468_splice	c.e67-1	p.V3490_splice	CSMD3_ENST00000352409.3_Splice_Site_p.V3420_splice|CSMD3_ENST00000343508.3_Splice_Site_p.V3450_splice|CSMD3_ENST00000455883.2_Splice_Site_p.V3321_splice	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3490						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATCATCAGGAACTGTGAATAG	0.284										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			5	43					0	0	0.217242	0	0	G	113249577	A	G	113249577	5	3	72	1	0	0	0	0	0	0	1	0	3971	57	2	3	674	3	CSMD3	8	113249577	Splice_Site	SNP	A	TCGA-EJ-7317-01A-31D-2114-08	42270881	113249577	33114445	31	3695											
TOPORS	10210	broad.mit.edu	37	chr9	32543932	32543932	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgttcttctgttcacaggAccactaggtgaatacacaga	11	12	9	9	0	3	2	1	1	2	1	3	3	3	3	1	2	1	3	1	2	3	6			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr9:32543932A>C	ENST00000360538.2	-	3	707	c.591T>G	c.(589-591)ggT>ggG	p.G197G	TOPORS_ENST00000379858.1_Silent_p.G132G	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	197	Required for DNA-binding.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		TGTTCACAGGACCACTAGGTG	0.443													7	58					0	0	0.335167	0	0	C	32543932	A	C	32543932	2	2	72	1	0	0	0	0	0	0	0	1	16431	262	10	5		5	TOPORS	9	32543932	Silent	SNP	A	TCGA-EJ-7317-01A-31D-2114-08		32543932	108669499	32	3696											
PCDH15	65217	broad.mit.edu	37	chr10	55587260	55587260	+	Silent	SNP	G	G	C																															ggcactgctggtttagccgcGggtaatgcggcctgaattcg																										TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr10:55587260G>C	ENST00000373965.2	-	33	4675	c.4281C>G	c.(4279-4281)ccC>ccG	p.P1427P	PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000361849.3_Silent_p.P1420P|PCDH15_ENST00000395433.1_Silent_p.P1395P|PCDH15_ENST00000409834.1_Silent_p.P1031P|PCDH15_ENST00000395438.1_Silent_p.P1420P|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395432.2_Silent_p.P1380P|PCDH15_ENST00000395430.1_Silent_p.P1417P|PCDH15_ENST00000395445.1_Silent_p.P1427P|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000437009.1_Silent_p.P1349P|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000320301.6_Silent_p.P1420P|PCDH15_ENST00000414778.1_Silent_p.P1422P	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1420					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GTTTAGCCGCGGGTAATGCGG	0.547										HNSCC(58;0.16)			27	87					0	0	0.760397	0	0	C	55587260	G	C	55587260	2	2	72	1	0	0	0	0	0	0	0	1	11558	1103	39	4		4	PCDH15	10	55587260	Silent	SNP	G	TCGA-EJ-7317-01A-31D-2114-08		55587260	79947487	33	3697	18	2									
PCDH15	65217	broad.mit.edu	37	chr10	55587261	55587261	+	Missense_Mutation	SNP	G	G	T																															gcactgctggtttagccgcgGgtaatgcggcctgaattcgt																										TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr10:55587261G>T	ENST00000373965.2	-	33	4674	c.4280C>A	c.(4279-4281)cCc>cAc	p.P1427H	PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.P1420H|PCDH15_ENST00000395433.1_Missense_Mutation_p.P1395H|PCDH15_ENST00000409834.1_Missense_Mutation_p.P1031H|PCDH15_ENST00000395438.1_Missense_Mutation_p.P1420H|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.P1380H|PCDH15_ENST00000395430.1_Missense_Mutation_p.P1417H|PCDH15_ENST00000395445.1_Missense_Mutation_p.P1427H|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.P1349H|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.P1420H|PCDH15_ENST00000414778.1_Missense_Mutation_p.P1422H	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1420					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTTAGCCGCGGGTAATGCGGC	0.547										HNSCC(58;0.16)			28	85					6.00712e-18	7.22891e-18	0.760397	1	0	T	55587261	G	T	55587261	3	4	72	1	0	0	0	0	1	0	0	0	11558	1232	43	4	3235	4	PCDH15	10	55587261	Missense_Mutation	SNP	G	TCGA-EJ-7317-01A-31D-2114-08	1	55587261	79947486	34	3698	18	2									
ACCS	84680	broad.mit.edu	37	chr11	44100335	44100335	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tacctggtatttgccaagagGtgaggcaccccacactggcc	9	8	11	13	0	0	2	0	1	0	1	0	2	0	2	5	4	2	2	5	4	3	3			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr11:44100335G>T	ENST00000263776.8	+	9	1267		c.e9+1			NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)								1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	p.?(2)		breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						TTGCCAAGAGGTGAGGCACCC	0.577													11	27					0.00136819	0.00149449	0.411799	1	0	T	44100335	G	T	44100335	5	4	72	1	0	0	0	0	0	0	1	0	133	1275	44	4	864	4	ACCS	11	44100335	Splice_Site	SNP	G	TCGA-EJ-7317-01A-31D-2114-08		44100335	90906181	35	3699											
KRT78	196374	broad.mit.edu	37	chr12	53238345	53238345	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccccaggtcccaccacctTggtctggtacaaggcctcag	7	7	9	18	0	2	0	1	0	1	0	3	0	3	0	7	4	1	1	7	4	2	2			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr12:53238345T>G	ENST00000359499.4	-	5	600	c.589A>C	c.(589-591)Aag>Cag	p.K197Q	KRT78_ENST00000304620.4_Missense_Mutation_p.K307Q			Q8N1N4	K2C78_HUMAN	keratin 78	307	Coil 1B.|Rod.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CCCACCACCTTGGTCTGGTAC	0.617													35	111					0	0	0.853193	0	0	G	53238345	T	G	53238345	3	3	72	1	0	0	0	0	1	0	0	0	8534	1821	63	5	663	5	KRT78	12	53238345	Missense_Mutation	SNP	T	TCGA-EJ-7317-01A-31D-2114-08		53238345	80613550	36	3700											
GIT2	9815	broad.mit.edu	37	chr12	110383093	110383093	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgctttcgtccctcgaccagGaaagtgtggaggggaaggaa	10	7	15	9	3	0	0	0	0	0	0	3	5	1	4	2	5	0	1	2	5	3	1			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr12:110383093G>T	ENST00000360185.4	-	15	1717	c.1553C>A	c.(1552-1554)tCc>tAc	p.S518Y	GIT2_ENST00000343646.5_Intron|GIT2_ENST00000551209.1_Missense_Mutation_p.S517Y|GIT2_ENST00000354574.4_Intron|GIT2_ENST00000553118.1_Intron|TCHP_ENST00000550780.1_Intron|GIT2_ENST00000338373.5_Missense_Mutation_p.S470Y|GIT2_ENST00000457474.2_Intron|GIT2_ENST00000361006.5_Intron|GIT2_ENST00000356259.4_Intron|GIT2_ENST00000355312.3_Missense_Mutation_p.S568Y			Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	568					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						CCTCGACCAGGAAAGTGTGGA	0.547													14	25					4.7546e-09	5.62628e-09	0.500413	1	0	T	110383093	G	T	110383093	3	4	72	1	0	0	0	0	1	0	0	0	6439	1174	41	4	596	4	GIT2	12	110383093	Missense_Mutation	SNP	G	TCGA-EJ-7317-01A-31D-2114-08	57144748	110383093	23468802	37	3701											
WDR24	84219	broad.mit.edu	37	chr16	734790	734790	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtgggagctgccttccaGccacttcatgatgtgctgca	8	10	11	12	0	1	1	1	1	0	0	2	2	2	2	3	1	5	3	3	1	0	2			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr16:734790G>C	ENST00000293883.4	-	9	3076	c.2317C>G	c.(2317-2319)Ctg>Gtg	p.L773V	WDR24_ENST00000248142.6_Missense_Mutation_p.L903V	NM_032259.2	NP_115635.1	Q96S15	WDR24_HUMAN	WD repeat domain 24	903										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				CTGCCTTCCAGCCACTTCATG	0.677													3	9					0	0	0.115264	0	0	C	734790	G	C	734790	3	2	72	1	0	0	0	0	1	0	0	0	17341	962	34	4	59	4	WDR24	16	734790	Missense_Mutation	SNP	G	TCGA-EJ-7317-01A-31D-2114-08		734790	89619963	38	3702											
ADCY9	115	broad.mit.edu	37	chr16	4042212	4042212	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggatgttcttgaacctcagCggaaggagagccgactggtc	9	8	14	10	3	2	2	1	1	1	1	3	6	2	4	2	4	3	1	2	4	2	2			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr16:4042212C>T	ENST00000294016.3	-	5	2680	c.2142G>A	c.(2140-2142)ccG>ccA	p.P714P	ADCY9_ENST00000571889.1_5'UTR	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	714					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TGAACCTCAGCGGAAGGAGAG	0.537													4	91					0	0	0.184627	0	0	T	4042212	C	T	4042212	2	4	72	1	0	0	0	0	0	0	0	1	300	755	27	1		1	ADCY9	16	4042212	Silent	SNP	C	TCGA-EJ-7317-01A-31D-2114-08	3307422	4042212	86312541	39	3703											
SEPHS2	22928	broad.mit.edu	37	chr16	30456028	30456028	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aattattggcagattatgaaTaacaaaggacacttcatttc	16	13	6	6	0	1	2	1	1	0	1	2	3	1	3	0	2	1	1	0	2	6	6			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr16:30456028T>C	ENST00000478753.2	-	1	1474	c.1021A>G	c.(1021-1023)Att>Gtt	p.I341V	SEPHS2_ENST00000500504.2_Missense_Mutation_p.I341V|SEPHS2_ENST00000542752.1_Missense_Mutation_p.I284V			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	341					selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						AGATTATGAATAACAAAGGAC	0.473													4	64					0	0	0.150653	0	0	C	30456028	T	C	30456028	3	2	72	1	0	0	0	0	1	0	0	0	14109	1406	49	3	329	3	SEPHS2	16	30456028	Missense_Mutation	SNP	T	TCGA-EJ-7317-01A-31D-2114-08	26413816	30456028	59898725	40	3704											
ITGAL	0	broad.mit.edu	37	chr16	30522404	30522404	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagacctcctggaggacaaCtcagccactaccatcatccc	11	7	6	17	0	3	1	3	0	0	1	5	3	5	3	5	2	3	0	5	2	2	1			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr16:30522404C>G	ENST00000356798.6	+	24	2913	c.2733C>G	c.(2731-2733)aaC>aaG	p.N911K	ITGAL_ENST00000433423.2_Missense_Mutation_p.N145K|ITGAL_ENST00000358164.5_Missense_Mutation_p.N827K	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	911					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	TGGAGGACAACTCAGCCACTA	0.567													18	163					0	0	0.608945	0	0	G	30522404	C	G	30522404	3	3	72	1	0	0	0	0	1	0	0	0	7930	564	20	4	2827	4	ITGAL	16	30522404	Missense_Mutation	SNP	C	TCGA-EJ-7317-01A-31D-2114-08	66376	30522404	59832349	41	3705											
THAP11	57215	broad.mit.edu	37	chr16	67876808	67876808	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcaacagcagcaacaGcagcagcagcagcaacagca	17	0	10	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	10	0	0	3	0			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr16:67876808G>A	ENST00000303596.1	+	1	596	c.351G>A	c.(349-351)caG>caA	p.Q117Q	CENPT_ENST00000562787.1_Intron	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN	THAP domain containing 11	117	Gln-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|identical protein binding|metal ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		agcagcaacagcagcagcagc	0.667													3	62					0	0	0.115264	0	0	A	67876808	G	A	67876808	2	1	72	1	0	0	0	0	0	0	0	1	15903	962	34	2		2	THAP11	16	67876808	Silent	SNP	G	TCGA-EJ-7317-01A-31D-2114-08	37354404	67876808	22477945	42	3706											
PLCD3	113026	broad.mit.edu	37	chr17	43209630	43209630	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgacccatcttcttcagcgCccgcagcccgggcctcttgg	4	9	10	18	3	4	1	1	1	3	0	4	1	4	1	4	2	2	1	4	2	0	3			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr17:43209630C>T	ENST00000322765.5	-	1	261	c.148G>A	c.(148-150)Gcg>Acg	p.A50T	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	50					intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17					Phosphatidylserine(DB00144)	TTCTTCAGCGCCCGCAGCCCG	0.741													3	14					0	0	0.184627	0	0	T	43209630	C	T	43209630	3	4	72	1	0	0	0	0	1	0	0	0	12080	739	26	2	2280	2	PLCD3	17	43209630	Missense_Mutation	SNP	C	TCGA-EJ-7317-01A-31D-2114-08		43209630	37985580	43	3707											
SH3GL1	6455	broad.mit.edu	37	chr19	4366548	4366548	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccagcacttctgtcaccGccttgctggtgacatccacc	6	10	9	16	1	2	1	1	1	1	0	3	1	3	1	5	2	2	2	5	2	0	2			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr19:4366548G>A	ENST00000269886.3	-	3	315	c.137C>T	c.(136-138)gCg>gTg	p.A46V	SH3GL1_ENST00000417295.2_Missense_Mutation_p.A46V|SH3GL1_ENST00000598564.1_Missense_Mutation_p.A46V	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	46	BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		TTCTGTCACCGCCTTGCTGGT	0.642			T	MLL	AL								3	26					0	0	0.115264	0	0	A	4366548	G	A	4366548	3	1	72	1	0	0	0	0	1	0	0	0	14305	1087	38	1	1001	1	SH3GL1	19	4366548	Missense_Mutation	SNP	G	TCGA-EJ-7317-01A-31D-2114-08		4366548	54762435	44	3708											
ZNF773	374928	broad.mit.edu	37	chr19	58017987	58017987	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacacgggagagaagtcacAtaggagctccaaaagtaggg	15	5	13	8	1	2	1	2	0	0	1	3	4	3	3	1	3	1	2	1	3	5	2			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr19:58017987A>G	ENST00000282292.4	+	4	664	c.524A>G	c.(523-525)cAt>cGt	p.H175R	ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000598770.1_Missense_Mutation_p.H174R|ZNF773_ENST00000593916.1_Intron	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	175					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		GAGAAGTCACATAGGAGCTCC	0.468													7	16					0	0	0.335167	0	0	G	58017987	A	G	58017987	3	3	72	1	0	0	0	0	1	0	0	0	18195	217	8	3	538	3	ZNF773	19	58017987	Missense_Mutation	SNP	A	TCGA-EJ-7317-01A-31D-2114-08	53651439	58017987	1110996	45	3709											
PANK2	80025	broad.mit.edu	37	chr20	3893120	3893120	+	Frame_Shift_Del	DEL	T	T	-																															catagtcttggaggaggaacTttttttggtctctgctgtct																										TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr20:3893120delT	ENST00000497424.1	+	4	689	c.378delT	c.(376-378)acfs	p.T126fs	PANK2_ENST00000316562.4_Frame_Shift_Del_p.T417fs|PANK2_ENST00000336066.3_3'UTR	NM_024960.4|NM_153640.2	NP_079236.3|NP_705904.1	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	417			G -> A (in dbSNP:rs3737084).		cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GAGGAGGAACTTTTTTTGGTC	0.343													7	241	---	---	---	---						-	3893120	T	-	3893120	7	5	72	1	0	1	0	1	0	0	0	0	11464	1596	56	0	1265	0	PANK2	20	3893120	Frame_Shift_Del	DEL	T	TCGA-EJ-7317-01A-31D-2114-08		3893120	59132400	46	3710											
WISP2	8839	broad.mit.edu	37	chr20	43355879	43355879	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgccgactggagacccaGcgccgcctgtgcctgtccag	5	8	12	16	3	1	1	0	0	1	1	2	3	2	1	6	1	3	0	6	1	0	1			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr20:43355879G>A	ENST00000372865.4	+	3	945	c.437G>A	c.(436-438)aGc>aAc	p.S146N	RP11-445H22.4_ENST00000445420.1_RNA|WISP2_ENST00000372868.2_Silent_p.Q228Q|RP11-445H22.4_ENST00000427303.1_RNA|WISP2_ENST00000190983.4_Silent_p.Q228Q|WISP2_ENST00000471629.1_3'UTR|RP11-445H22.4_ENST00000427598.1_RNA			O76076	WISP2_HUMAN	WNT1 inducible signaling pathway protein 2	142	VWFC.				cell adhesion|cell-cell signaling|signal transduction	extracellular region|soluble fraction	insulin-like growth factor binding			skin(1)	1		Myeloproliferative disorder(115;0.0122)				TGGAGACCCAGCGCCGCCTGT	0.672													16	27					0	0	0.557998	0	0	A	43355879	G	A	43355879	3	1	72	1	0	0	0	0	1	0	0	0	17433	962	34	2	698	2	WISP2	20	43355879	Missense_Mutation	SNP	G	TCGA-EJ-7317-01A-31D-2114-08	39462759	43355879	19669641	47	3711											
ZNF217	7764	broad.mit.edu	37	chr20	52198352	52198352	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaggcctgcacaactgccCttatttgtttctccaagctc	8	12	8	13	0	1	1	0	0	1	1	3	2	1	1	3	1	4	3	3	1	3	3			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr20:52198352C>T	ENST00000371471.2	-	2	1439	c.1014G>A	c.(1012-1014)aaG>aaA	p.K338K	ZNF217_ENST00000302342.3_Silent_p.K338K			O75362	ZN217_HUMAN	zinc finger protein 217	338					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			CACAACTGCCCTTATTTGTTT	0.542													14	112					0	0	0.539581	0	0	T	52198352	C	T	52198352	2	4	72	1	0	0	0	0	0	0	0	1	17830	680	24	2		2	ZNF217	20	52198352	Silent	SNP	C	TCGA-EJ-7317-01A-31D-2114-08	8842473	52198352	10827168	48	3712											
BCR	613	broad.mit.edu	37	chr22	23523995	23523995	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagccctaccagagcatctAcgtcgggggcatgatggaag	10	6	13	12	2	1	2	0	1	1	1	2	3	1	3	3	3	4	2	3	3	3	2			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr22:23523995A>G	ENST00000305877.8	+	1	1599	c.848A>G	c.(847-849)tAc>tGc	p.Y283C	BCR_ENST00000398512.5_Missense_Mutation_p.Y283C|BCR_ENST00000359540.3_Missense_Mutation_p.Y283C	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	283	Binding to ABL SH2-domain.|Kinase.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						CAGAGCATCTACGTCGGGGGC	0.657			T	"ABL1,  FGFR1, JAK2 "	"CML, ALL, AML"								8	36					0	0	0.361761	0	0	G	23523995	A	G	23523995	3	3	72	1	0	0	0	0	1	0	0	0	1386	391	14	3	850	3	BCR	22	23523995	Missense_Mutation	SNP	A	TCGA-EJ-7317-01A-31D-2114-08		23523995	27780571	49	3713											
KDM6A	7403	broad.mit.edu	37	chrX	44969453	44969453	+	Frame_Shift_Del	DEL	A	A	-																															ttgtggtgctagaacagtacAaaatggaggacctgatgcaa																										TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chrX:44969453delA	ENST00000377967.4	+	28	4176	c.4135delA	c.(4135-4137)aafs	p.K1379fs	KDM6A_ENST00000536777.1_Frame_Shift_Del_p.K1334fs|KDM6A_ENST00000382899.4_Frame_Shift_Del_p.K1386fs|KDM6A_ENST00000479423.1_3'UTR|KDM6A_ENST00000543216.1_Frame_Shift_Del_p.K1300fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1379					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.Y1378fs(2)|p.M1380fs*9(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						AGAACAGTACAAAATGGAGGA	0.388			"D, N, F, S"		"renal, oesophageal SCC, MM"								63	22	---	---	---	---						-	44969453	A	-	44969453	7	5	72	1	0	1	0	1	0	0	0	0	8180	131	5	0	4245	0	KDM6A	23	44969453	Frame_Shift_Del	DEL	A	TCGA-EJ-7317-01A-31D-2114-08		44969453	110301107	50	3714											
LDLRAD1	388633	broad.mit.edu	37	chr1	54474773	54474773	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggttgaaggacagcgccacCacccagggccgcagggtggg	9	3	17	12	2	0	1	0	1	0	0	0	2	0	2	4	5	1	2	4	5	1	1			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr1:54474773C>A	ENST00000371360.1	-	6	517	c.500G>T	c.(499-501)tGg>tTg	p.W167L	LDLRAD1_ENST00000371362.3_Missense_Mutation_p.W78L|LDLRAD1_ENST00000545928.1_Missense_Mutation_p.W124L|LDLRAD1_ENST00000420619.1_Missense_Mutation_p.W128L	NM_001010978.2	NP_001010978.2	Q5T700	LRAD1_HUMAN	low density lipoprotein receptor class A domain containing 1	167	LDL-receptor class A 3; atypical.					integral to membrane	receptor activity			large_intestine(3)|prostate(1)|skin(3)	7						ACAGCGCCACCACCCAGGGCC	0.592													3	158					0.0215528	0.0221275	1	1	0	A	54474773	C	A	54474773	3	1	73	1	0	0	0	0	1	0	0	0	8744	595	21	4	121	4	LDLRAD1	1	54474773	Missense_Mutation	SNP	C	TCGA-EJ-7321-01A-31D-2260-08		54474773	194775848	1	3715											
LEPR	3953	broad.mit.edu	37	chr1	66081866	66081866	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caattcaattggtgcttctgTtgcaaattttaatttaacct	11	18	5	7	0	2	0	1	0	1	0	2	0	2	0	1	1	3	3	1	1	5	8			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr1:66081866T>C	ENST00000349533.6	+	15	2356	c.2171T>C	c.(2170-2172)gTt>gCt	p.V724A	LEPR_ENST00000344610.8_Missense_Mutation_p.V724A|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371058.1_Missense_Mutation_p.V724A|LEPR_ENST00000371059.3_Missense_Mutation_p.V724A|LEPR_ENST00000371060.3_Missense_Mutation_p.V724A	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	724	Fibronectin type-III 3.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		GGTGCTTCTGTTGCAAATTTT	0.388													4	56					0	0	1	0	0	C	66081866	T	C	66081866	3	2	73	1	0	0	0	0	1	0	0	0	8767	1725	60	3	2221	3	LEPR	1	66081866	Missense_Mutation	SNP	T	TCGA-EJ-7321-01A-31D-2260-08	11607093	66081866	183168755	2	3716											
LRRC8C	84230	broad.mit.edu	37	chr1	90178503	90178503	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agccctccactggtatgccaAgtatttcccttaccttgtcc	7	13	6	15	0	0	0	0	0	0	0	3	0	3	0	6	1	3	2	6	1	4	5			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr1:90178503A>C	ENST00000370454.4	+	3	629	c.374A>C	c.(373-375)aAg>aCg	p.K125T	RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron	NM_032270.4	NP_115646.2	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	125						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		TGGTATGCCAAGTATTTCCCT	0.433													3	159					0	0	1	0	0	C	90178503	A	C	90178503	3	2	73	1	0	0	0	0	1	0	0	0	9068	72	3	5	380	5	LRRC8C	1	90178503	Missense_Mutation	SNP	A	TCGA-EJ-7321-01A-31D-2260-08	24096637	90178503	159072118	3	3717											
COL11A1	1301	broad.mit.edu	37	chr1	103444627	103444627	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcacctaccgttggaccacGctgaccccgagggcctggtt	6	7	13	15	3	0	1	0	1	0	0	0	3	0	2	6	4	1	4	6	4	1	3			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr1:103444627G>A	ENST00000358392.2	-	33	2997	c.2680C>T	c.(2680-2682)Cgt>Tgt	p.R894C	COL11A1_ENST00000353414.4_Missense_Mutation_p.R843C|COL11A1_ENST00000512756.1_Missense_Mutation_p.R766C|COL11A1_ENST00000370096.3_Missense_Mutation_p.R882C	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	882	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	p.R894G(1)|p.R882G(1)		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)		GTTGGACCACGCTGACCCCGA	0.363													4	49					0	0	1	0	0	A	103444627	G	A	103444627	3	1	73	1	0	0	0	0	1	0	0	0	3690	1087	38	1	2916	1	COL11A1	1	103444627	Missense_Mutation	SNP	G	TCGA-EJ-7321-01A-31D-2260-08	13266124	103444627	145805994	4	3718											
MYBPHL	343263	broad.mit.edu	37	chr1	109840068	109840068	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccaggatgtcaatggtggCggtggcctccagcccaccca	8	6	12	15	1	1	0	1	0	0	0	2	1	2	1	5	5	1	0	5	5	1	0	rs34962971		TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr1:109840068C>T	ENST00000357155.1	-	3	455	c.406G>A	c.(406-408)Gcc>Acc	p.A136T	MYBPHL_ENST00000477962.1_Intron	NM_001010985.2|NM_001265613.1	NP_001010985.2|NP_001252542.1	A2RUH7	MBPHL_HUMAN	myosin binding protein H-like	136	Ig-like C2-type 1.									central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)		TCAATGGTGGCGGTGGCCTCC	0.612													9	73					0	0	1	0	0	T	109840068	C	T	109840068	3	4	73	1	0	0	0	0	1	0	0	0	10063	768	27	1	682	1	MYBPHL	1	109840068	Missense_Mutation	SNP	C	TCGA-EJ-7321-01A-31D-2260-08	6395441	109840068	139410553	5	3719											
ALX3	257	broad.mit.edu	37	chr1	110607211	110607211	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccttgcagtgccctcacctGtacccgggcctcagtcaggt	5	10	10	16	1	3	0	3	0	0	0	4	0	4	0	5	2	3	2	5	2	1	2			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr1:110607211G>A	ENST00000369792.4	-	2	679	c.592C>T	c.(592-594)Cag>Tag	p.Q198*		NM_006492.2	NP_006483.2	O95076	ALX3_HUMAN	ALX homeobox 3	198						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)		GCCCTCACCTGTACCCGGGCC	0.612													4	46					0	0	1	0	0	A	110607211	G	A	110607211	4	1	73	1	0	0	0	0	0	1	0	0	553	1386	48	2	451	2	ALX3	1	110607211	Nonsense_Mutation	SNP	G	TCGA-EJ-7321-01A-31D-2260-08	767143	110607211	138643410	6	3720											
KCNN3	3782	broad.mit.edu	37	chr1	154841766	154841766	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctggtgggcatggttgtcCtcccgggaggagatgacgat	6	10	17	8	2	1	2	0	1	1	1	3	5	3	3	2	5	0	2	2	5	0	1			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr1:154841766C>T	ENST00000271915.3	-	1	990	c.675G>A	c.(673-675)gaG>gaA	p.E225E		NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	230						integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			CATGGTTGTCCTCCCGGGAGG	0.647													3	56					0	0	1	0	0	T	154841766	C	T	154841766	2	4	73	1	0	0	0	0	0	0	0	1	8124	680	24	2		2	KCNN3	1	154841766	Silent	SNP	C	TCGA-EJ-7321-01A-31D-2260-08	44234555	154841766	94408855	7	3721											
LTBP1	4052	broad.mit.edu	37	chr2	33488411	33488411	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgttgaagtagctcctgaaGcttctacgtctagtgccagc	8	12	10	11	1	2	2	0	2	2	0	3	2	3	2	2	0	5	4	2	0	5	5			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr2:33488411G>A	ENST00000404816.2	+	15	2922	c.2569G>A	c.(2569-2571)Gct>Act	p.A857T	LTBP1_ENST00000390003.4_Missense_Mutation_p.A532T|LTBP1_ENST00000402934.1_Missense_Mutation_p.A478T|LTBP1_ENST00000418533.2_Missense_Mutation_p.A531T|LTBP1_ENST00000354476.3_Missense_Mutation_p.A858T|LTBP1_ENST00000407925.1_Missense_Mutation_p.A531T|LTBP1_ENST00000404525.1_Missense_Mutation_p.A478T			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	857					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				AGCTCCTGAAGCTTCTACGTC	0.428													13	89					0	0	1	0	0	A	33488411	G	A	33488411	3	1	73	1	0	0	0	0	1	0	0	0	9118	971	34	2	2682	2	LTBP1	2	33488411	Missense_Mutation	SNP	G	TCGA-EJ-7321-01A-31D-2260-08		33488411	209710962	8	3722											
ATL2	64225	broad.mit.edu	37	chr2	38546101	38546101	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgtttctctttcacagcCacctcgccatgtaaagcctg	7	14	7	13	1	2	0	1	0	1	0	4	0	2	0	4	0	2	3	4	0	2	4			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr2:38546101C>T	ENST00000378954.4	-	3	425	c.424G>A	c.(424-426)Ggc>Agc	p.G142S	ATL2_ENST00000452935.2_Missense_Mutation_p.G124S|ATL2_ENST00000419554.2_Missense_Mutation_p.G142S|ATL2_ENST00000406122.1_5'UTR|ATL2_ENST00000546051.1_5'UTR|ATL2_ENST00000332337.4_Missense_Mutation_p.G124S|ATL2_ENST00000402054.1_5'UTR|ATL2_ENST00000539122.1_5'UTR	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2	142					endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						CTTTCACAGCCACCTCGCCAT	0.348													24	240					0	0	1	0	0	T	38546101	C	T	38546101	3	4	73	1	0	0	0	0	1	0	0	0	1106	594	21	2	1483	2	ATL2	2	38546101	Missense_Mutation	SNP	C	TCGA-EJ-7321-01A-31D-2260-08	5057690	38546101	204653272	9	3723											
ASTL	431705	broad.mit.edu	37	chr2	96795627	96795627	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaggacccgggtgatgtcCgaggcactcaggttccatcg	7	9	14	11	3	1	2	1	2	0	0	4	4	3	3	3	4	0	2	3	4	0	2			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr2:96795627C>T	ENST00000342380.2	-	8	809	c.810G>A	c.(808-810)tcG>tcA	p.S270S		NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN	astacin-like metallo-endopeptidase (M12 family)	270					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						GGGTGATGTCCGAGGCACTCA	0.647													4	68					0	0	1	0	0	T	96795627	C	T	96795627	2	4	73	1	0	0	0	0	0	0	0	1	1062	639	23	1		1	ASTL	2	96795627	Silent	SNP	C	TCGA-EJ-7321-01A-31D-2260-08	58249526	96795627	146403746	10	3724											
IMP4	92856	broad.mit.edu	37	chr2	131102232	131102232	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gattcccactgagttacgccGagaggctctggccttacagg	8	9	12	12	2	1	2	0	1	1	1	2	4	2	2	3	3	2	2	3	3	2	3	rs34815785	byFrequency	TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr2:131102232G>A	ENST00000259239.3	+	3	851	c.143G>A	c.(142-144)cGa>cAa	p.R48Q	IMP4_ENST00000409935.1_Missense_Mutation_p.R48Q	NM_033416.1	NP_219484.1	Q96G21	IMP4_HUMAN	IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast)	48	Arg-rich.				rRNA processing|translation	nucleolus|ribonucleoprotein complex	aminoacyl-tRNA ligase activity|ATP binding|protein binding			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	18	Colorectal(110;0.1)					GAGTTACGCCGAGAGGCTCTG	0.552													5	82					0	0	1	0	0	A	131102232	G	A	131102232	3	1	73	1	0	0	0	0	1	0	0	0	7764	1058	37	1	153	1	IMP4	2	131102232	Missense_Mutation	SNP	G	TCGA-EJ-7321-01A-31D-2260-08	34306605	131102232	112097141	11	3725											
XIRP2	129446	broad.mit.edu	37	chr2	168105325	168105325	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgaccagcagtgaacacAcggagacaaagcagaacgtt	16	5	11	9	2	0	5	0	3	0	2	0	6	0	5	1	1	4	3	1	1	3	1			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr2:168105325A>T	ENST00000409195.1	+	9	7512	c.7423A>T	c.(7423-7425)Acg>Tcg	p.T2475S	XIRP2_ENST00000409273.1_Missense_Mutation_p.T2253S|XIRP2_ENST00000295237.9_Missense_Mutation_p.T2475S|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2300					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CAGTGAACACACGGAGACAAA	0.403													5	47					0	0	1	0	0	T	168105325	A	T	168105325	3	4	73	1	0	0	0	0	1	0	0	0	17490	159	6	5	7453	5	XIRP2	2	168105325	Missense_Mutation	SNP	A	TCGA-EJ-7321-01A-31D-2260-08	37003093	168105325	75094048	12	3726											
BZW1	9689	broad.mit.edu	37	chr2	201684782	201684782	+	Frame_Shift_Del	DEL	T	T	-																															ttactgaagattcaggagtaTtgctatgacaacattcattt																										TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr2:201684782delT	ENST00000409600.1	+	10	1499	c.1044delT	c.(1042-1044)tafs	p.Y348fs	BZW1_ENST00000409226.1_Frame_Shift_Del_p.Y352fs|BZW1_ENST00000452790.2_Frame_Shift_Del_p.Y380fs	NM_001207067.1|NM_014670.3	NP_001193996.1|NP_055485.2	Q7L1Q6	BZW1_HUMAN	basic leucine zipper and W2 domains 1	348	W2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(2)	6						TTCAGGAGTATTGCTATGACA	0.338													2	4	---	---	---	---						-	201684782	T	-	201684782	7	5	73	1	0	1	0	1	0	0	0	0	1581	1508	52	0		0	BZW1	2	201684782	Frame_Shift_Del	DEL	T	TCGA-EJ-7321-01A-31D-2260-08	33579457	201684782	41514591	13	3727											
FBXL2	25827	broad.mit.edu	37	chr3	33414823	33414823	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacctcctgtgtgtctattaCaaacagctccttgaagggga	10	11	10	10	0	1	1	0	1	1	0	3	3	3	2	3	2	3	1	3	2	4	3			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr3:33414823C>A	ENST00000484457.1	+	7	522	c.431C>A	c.(430-432)aCa>aAa	p.T144K	FBXL2_ENST00000507198.1_Intron|FBXL2_ENST00000446237.3_5'UTR|FBXL2_ENST00000283627.6_3'UTR|FBXL2_ENST00000542085.1_5'UTR|FBXL2_ENST00000538892.1_Intron|FBXL2_ENST00000538181.1_Missense_Mutation_p.T60K	NM_012157.3	NP_036289.3	Q9UKC9	FBXL2_HUMAN	F-box and leucine-rich repeat protein 2	144					interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						GTGTCTATTACAAACAGCTCC	0.428													17	243					5.35267e-07	6.24478e-07	1	1	0	A	33414823	C	A	33414823	3	1	73	1	0	0	0	0	1	0	0	0	5749	478	17	4	457	4	FBXL2	3	33414823	Missense_Mutation	SNP	C	TCGA-EJ-7321-01A-31D-2260-08		33414823	164607607	14	3728											
TGM4	7047	broad.mit.edu	37	chr3	44943340	44943340	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggcttcgattcagctcaCgacacagaaaggaacctcac	14	6	8	13	2	3	1	3	0	0	1	4	4	3	2	1	2	2	2	1	2	2	2			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr3:44943340C>T	ENST00000296125.4	+	8	956	c.888C>T	c.(886-888)caC>caT	p.H296H		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	296					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	ATTCAGCTCACGACACAGAAA	0.552													9	37					0	0	1	0	0	T	44943340	C	T	44943340	2	4	73	1	0	0	0	0	0	0	0	1	15892	535	19	1		1	TGM4	3	44943340	Silent	SNP	C	TCGA-EJ-7321-01A-31D-2260-08	11528517	44943340	153079090	15	3729											
SEMA3G	56920	broad.mit.edu	37	chr3	52472026	52472026	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactgcagggcagggttgcCgtgccggatgtcctgccggc	4	7	17	13	3	0	0	0	0	0	0	1	1	1	1	4	4	4	4	4	4	0	1			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr3:52472026C>A	ENST00000231721.2	-	14	1698	c.1699G>T	c.(1699-1701)Ggc>Tgc	p.G567C		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	567					multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		GCAGGGTTGCCGTGCCGGATG	0.701													10	35					3.86212e-05	4.3099e-05	1	1	0	A	52472026	C	A	52472026	3	1	73	1	0	0	0	0	1	0	0	0	14084	652	23	4	661	4	SEMA3G	3	52472026	Missense_Mutation	SNP	C	TCGA-EJ-7321-01A-31D-2260-08	7528686	52472026	145550404	16	3730											
SMARCA5	8467	broad.mit.edu	37	chr4	144449073	144449073	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaatgggatgtatgtgtaaCatcttatgaaatgcttatta	14	15	9	3	0	1	2	0	1	1	1	1	3	1	3	0	1	2	3	0	1	7	5			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr4:144449073C>T	ENST00000283131.3	+	7	1316	c.854C>T	c.(853-855)aCa>aTa	p.T285I		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	285	Helicase ATP-binding.				CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					GTATGTGTAACATCTTATGAA	0.323													18	44					0	0	1	0	0	T	144449073	C	T	144449073	3	4	73	1	0	0	0	0	1	0	0	0	14825	478	17	2	880	2	SMARCA5	4	144449073	Missense_Mutation	SNP	C	TCGA-EJ-7321-01A-31D-2260-08		144449073	46705203	17	3731											
DCHS2	54798	broad.mit.edu	37	chr4	155253865	155253865	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttgcaagaatccgtcctcGgggatccaagcaaacactct	11	10	8	12	2	1	1	0	0	1	1	5	2	4	2	3	2	3	2	3	2	4	2			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr4:155253865G>A	ENST00000357232.3	-	9	1997	c.1998C>T	c.(1996-1998)ccC>ccT	p.P666P	DCHS2_ENST00000339452.1_Silent_p.P1165P	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	666	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ATCCGTCCTCGGGGATCCAAG	0.443													7	148					0	0	1	0	0	A	155253865	G	A	155253865	2	1	73	1	0	0	0	0	0	0	0	1	4311	1103	39	1		1	DCHS2	4	155253865	Silent	SNP	G	TCGA-EJ-7321-01A-31D-2260-08	10804792	155253865	35900411	18	3732											
DDX60	55601	broad.mit.edu	37	chr4	169227602	169227602	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggcaaagaacatcagattcTtgccctgaggaaagtacaac	16	7	9	9	0	2	3	1	1	1	2	2	4	2	4	1	2	4	2	1	2	5	3			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr4:169227602T>C	ENST00000393743.3	-	5	825	c.534A>G	c.(532-534)caA>caG	p.Q178Q		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	178							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		CATCAGATTCTTGCCCTGAGG	0.398													6	47					0	0	1	0	0	C	169227602	T	C	169227602	2	2	73	1	0	0	0	0	0	0	0	1	4401	1606	56	3		3	DDX60	4	169227602	Silent	SNP	T	TCGA-EJ-7321-01A-31D-2260-08	13973737	169227602	21926674	19	3733											
ADAMTS12	81792	broad.mit.edu	37	chr5	33630978	33630978	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccagcattttctcagaaaaCtggccatctatgggtcggca	10	11	9	11	1	2	1	1	0	2	1	5	1	3	1	2	3	2	2	2	3	3	3			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr5:33630978C>T	ENST00000504830.1	-	13	2264	c.1929G>A	c.(1927-1929)caG>caA	p.Q643Q	ADAMTS12_ENST00000352040.3_Intron|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	643	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCTCAGAAAACTGGCCATCTA	0.463										HNSCC(64;0.19)			8	48					0	0	1	0	0	T	33630978	C	T	33630978	2	4	73	1	0	0	0	0	0	0	0	1	256	564	20	2		2	ADAMTS12	5	33630978	Silent	SNP	C	TCGA-EJ-7321-01A-31D-2260-08		33630978	147284282	20	3734											
CXXC5	51523	broad.mit.edu	37	chr5	139060933	139060933	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccggcggcgcatcaactgCgagcagtgcagcagttgtag	8	7	15	11	4	1	0	1	0	0	0	1	1	1	0	1	2	6	6	1	2	2	2			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr5:139060933C>A	ENST00000302517.3	+	2	1539	c.825C>A	c.(823-825)tgC>tgA	p.C275*	CXXC5_ENST00000511048.1_Nonsense_Mutation_p.C275*|CXXC5_ENST00000515038.1_3'UTR	NM_016463.7	NP_057547.5	Q7LFL8	CXXC5_HUMAN	CXXC finger protein 5	275					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|nucleus	DNA binding|signal transducer activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCATCAACTGCGAGCAGTGCA	0.567													3	109					1	1	1	1	0	A	139060933	C	A	139060933	4	1	73	1	0	0	0	0	0	1	0	0	4122	776	27	4	827	4	CXXC5	5	139060933	Nonsense_Mutation	SNP	C	TCGA-EJ-7321-01A-31D-2260-08	105429955	139060933	41854327	21	3735											
PCDHGA3	0	broad.mit.edu	37	chr5	140725804	140725804	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggaggcggcttggcgagtaCgcccggctcgcactttgtgg	4	8	18	11	5	0	0	0	0	0	0	1	2	0	1	1	6	1	4	1	6	1	3			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr5:140725804C>T	ENST00000253812.6	+	1	2204	c.2204C>T	c.(2203-2205)aCg>aTg	p.T735M	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGGCGAGTACGCCCGGCTCG	0.672													5	93					0	0	1	0	0	T	140725804	C	T	140725804	3	4	73	1	0	0	0	0	1	0	0	0	11602	536	19	1	2206	1	PCDHGA3	5	140725804	Missense_Mutation	SNP	C	TCGA-EJ-7321-01A-31D-2260-08	1664871	140725804	40189456	22	3736											
OR2H2	7932	broad.mit.edu	37	chr6	29555896	29555896	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agctccactctccaatgtacTttttcctctccaacctctcc	7	14	2	18	0	3	0	0	0	3	0	8	0	5	0	6	0	3	2	6	0	3	3			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr6:29555896T>G	ENST00000383640.2	+	1	214	c.175T>G	c.(175-177)Ttt>Gtt	p.F59V	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	59					defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						TCCAATGTACTTTTTCCTCTC	0.527													15	108					0	0	1	0	0	G	29555896	T	G	29555896	3	3	73	1	0	0	0	0	1	0	0	0	11050	1609	56	5	177	5	OR2H2	6	29555896	Missense_Mutation	SNP	T	TCGA-EJ-7321-01A-31D-2260-08		29555896	141559171	23	3737											
PHF3	23469	broad.mit.edu	37	chr6	64404530	64404530	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatgaaattaaaaaatggcaGctagctcctcttcgtaagat	16	11	7	7	1	1	2	0	1	1	1	3	2	2	2	1	1	2	4	1	1	7	4	rs141874226		TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr6:64404530G>A	ENST00000262043.3	+	6	2896	c.2556G>A	c.(2554-2556)caG>caA	p.Q852Q	PHF3_ENST00000393387.1_Silent_p.Q852Q			Q92576	PHF3_HUMAN	PHD finger protein 3	852					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AAAAATGGCAGCTAGCTCCTC	0.363													3	171					0	0	1	0	0	A	64404530	G	A	64404530	2	1	73	1	0	0	0	0	0	0	0	1	11884	962	34	2		2	PHF3	6	64404530	Silent	SNP	G	TCGA-EJ-7321-01A-31D-2260-08	34848634	64404530	106710537	24	3738											
GCK	2645	broad.mit.edu	37	chr7	44186174	44186174	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagcctgagcagcacaagccGcaccagctcgcccatgtact	10	5	10	16	2	0	1	0	1	0	0	1	2	0	1	4	0	6	5	4	0	2	1			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr7:44186174G>A	ENST00000403799.3	-	8	1376	c.907C>T	c.(907-909)Cgg>Tgg	p.R303W	GCK_ENST00000395796.3_Missense_Mutation_p.R302W|GCK_ENST00000345378.2_Missense_Mutation_p.R304W|GCK_ENST00000437084.1_Missense_Mutation_p.R286W	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	303					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						AGCACAAGCCGCACCAGCTCG	0.622													3	111					0	0	1	0	0	A	44186174	G	A	44186174	3	1	73	1	0	0	0	0	1	0	0	0	6333	1086	38	1	502	1	GCK	7	44186174	Missense_Mutation	SNP	G	TCGA-EJ-7321-01A-31D-2260-08		44186174	114952489	25	3739											
MUC17	140453	broad.mit.edu	37	chr7	100681323	100681323	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacaacttctgaaggtaccaGcatgccaacctcaactccta	13	9	5	14	0	2	1	1	1	1	0	3	1	3	1	4	1	7	2	4	1	7	4			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr7:100681323G>A	ENST00000306151.4	+	3	6690	c.6626G>A	c.(6625-6627)aGc>aAc	p.S2209N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2209	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAAGGTACCAGCATGCCAACC	0.498													63	464					0	0	1	0	0	A	100681323	G	A	100681323	3	1	73	1	0	0	0	0	1	0	0	0	10022	971	34	2	6636	2	MUC17	7	100681323	Missense_Mutation	SNP	G	TCGA-EJ-7321-01A-31D-2260-08	56495149	100681323	58457340	26	3740											
TMEM213	155006	broad.mit.edu	37	chr7	138482839	138482839	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcaccgggcactcagcaCagcctccagcatgcagcgcc	8	4	10	19	2	1	0	1	0	0	0	2	0	2	0	5	1	6	5	5	1	0	0			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr7:138482839C>G	ENST00000422794.2	+	1	145	c.143C>G	c.(142-144)aCa>aGa	p.T48R	TMEM213_ENST00000397602.3_5'UTR|TMEM213_ENST00000413208.1_5'UTR|ATP6V0A4_ENST00000353492.4_5'UTR|ATP6V0A4_ENST00000310018.2_5'UTR|TMEM213_ENST00000458494.1_5'UTR|TMEM213_ENST00000442682.2_5'UTR			A2RRL7	TM213_HUMAN	transmembrane protein 213	0						integral to membrane				breast(1)|endometrium(3)|kidney(1)|lung(1)	6						GCACTCAGCACAGCCTCCAGC	0.667													3	5					0	0	1	0	0	G	138482839	C	G	138482839	3	3	73	1	0	0	0	0	1	0	0	0	16196	493	17	4		4	TMEM213	7	138482839	Missense_Mutation	SNP	C	TCGA-EJ-7321-01A-31D-2260-08	37801516	138482839	20655824	27	3741											
LETM2	137994	broad.mit.edu	37	chr8	38260146	38260146	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctcacggaggaacaactgcGacaacagctcacggaggcaa	14	4	11	12	3	2	0	2	0	1	0	3	4	2	3	0	4	5	2	0	4	4	0			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr8:38260146G>A	ENST00000379957.4	+	7	1215	c.1088G>A	c.(1087-1089)cGa>cAa	p.R363Q	LETM2_ENST00000528827.1_3'UTR|LETM2_ENST00000527710.1_Missense_Mutation_p.R149Q|LETM2_ENST00000524874.1_Missense_Mutation_p.R315Q|LETM2_ENST00000523983.2_Missense_Mutation_p.R316Q|LETM2_ENST00000297720.5_Missense_Mutation_p.R268Q	NM_001199659.1	NP_001186588.1	Q2VYF4	LETM2_HUMAN	leucine zipper-EF-hand containing transmembrane protein 2	363	LETM1.					integral to membrane|mitochondrial inner membrane				NS(1)|large_intestine(1)|lung(3)|prostate(2)	7	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)			GAACAACTGCGACAACAGCTC	0.537													4	57					0	0	1	0	0	A	38260146	G	A	38260146	3	1	73	1	0	0	0	0	1	0	0	0	8774	1058	37	1	817	1	LETM2	8	38260146	Missense_Mutation	SNP	G	TCGA-EJ-7321-01A-31D-2260-08		38260146	108103876	28	3742											
ADAM9	8754	broad.mit.edu	37	chr8	38880724	38880724	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctagttggactggagatttGgaccaatggaaacctgatca	12	10	12	7	0	1	2	1	1	0	1	1	6	1	5	2	4	1	2	2	4	3	3			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr8:38880724G>A	ENST00000487273.2	+	9	872	c.794G>A	c.(793-795)tGg>tAg	p.W265*		NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	265	Peptidase M12B.				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			CTGGAGATTTGGACCAATGGA	0.393													4	84					0	0	1	0	0	A	38880724	G	A	38880724	4	1	73	1	0	0	0	0	0	1	0	0	252	1357	47	2	828	2	ADAM9	8	38880724	Nonsense_Mutation	SNP	G	TCGA-EJ-7321-01A-31D-2260-08	620578	38880724	107483298	29	3743			1	12		2	2	17	G		3.04937e-05
ADAM9	8754	broad.mit.edu	37	chr8	38880740	38880740	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atttggaccaatggaaacctGatcaacatagttgggggtgc	12	10	12	7	0	1	1	1	1	0	0	1	3	1	3	2	4	3	1	2	4	4	3			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr8:38880740G>A	ENST00000487273.2	+	9	888	c.810G>A	c.(808-810)ctG>ctA	p.L270L		NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	270	Peptidase M12B.				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			ATGGAAACCTGATCAACATAG	0.413													5	94					0	0	1	0	0	A	38880740	G	A	38880740	2	1	73	1	0	0	0	0	0	0	0	1	252	1277	45	2		2	ADAM9	8	38880740	Silent	SNP	G	TCGA-EJ-7321-01A-31D-2260-08	16	38880740	107483282	30	3744			1	12		2	2	17	G		3.04937e-05
COL27A1	85301	broad.mit.edu	37	chr9	116968050	116968050	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttgcaggggcagccaggAcctgagggcagcccaggggc	7	4	17	13	0	0	1	0	1	0	0	0	2	0	2	4	6	3	3	4	6	0	1			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr9:116968050A>G	ENST00000356083.3	+	9	2572	c.2181A>G	c.(2179-2181)ggA>ggG	p.G727G		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	727	Collagen-like 2.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GGCAGCCAGGACCTGAGGGCA	0.587													22	55					0	0	1	0	0	G	116968050	A	G	116968050	2	3	73	1	0	0	0	0	0	0	0	1	3708	262	10	3		3	COL27A1	9	116968050	Silent	SNP	A	TCGA-EJ-7321-01A-31D-2260-08		116968050	24245381	31	3745											
LAMC3	10319	broad.mit.edu	37	chr9	133952674	133952674	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaccgtgcagcaagttggcGcagatacagccccgtacctg	9	6	11	15	3	0	1	0	0	0	1	0	1	0	1	5	1	5	5	5	1	3	3	rs113975085	byFrequency	TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr9:133952674G>A	ENST00000361069.4	+	22	3863	c.3730G>A	c.(3730-3732)Gca>Aca	p.A1244T	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1244	Domain II and I.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GCAAGTTGGCGCAGATACAGC	0.617													5	99					0	0	1	0	0	A	133952674	G	A	133952674	3	1	73	1	0	0	0	0	1	0	0	0	8655	1087	38	1	3816	1	LAMC3	9	133952674	Missense_Mutation	SNP	G	TCGA-EJ-7321-01A-31D-2260-08	16984624	133952674	7260757	32	3746											
CUBN	8029	broad.mit.edu	37	chr10	16955876	16955876	+	Frame_Shift_Del	DEL	C	C	-																															ttgttaaacattagggtgatCcgccttccctccggggcagt																										TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr10:16955876delC	ENST00000377833.4	-	48	7532	c.7467delG	c.(7465-7467)cgfs	p.R2489fs		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2489	CUB 18.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTAGGGTGATCCGCCTTCCCT	0.517													41	246	---	---	---	---						-	16955876	C	-	16955876	7	5	73	1	0	1	0	1	0	0	0	0	4074	842	30	0	3484	0	CUBN	10	16955876	Frame_Shift_Del	DEL	C	TCGA-EJ-7321-01A-31D-2260-08		16955876	118578871	33	3747											
PNLIPRP2	5408	broad.mit.edu	37	chr10	118396278	118396279	+	RNA	INS	-	-	T																															gactaacagacaaattatggINSttttttttttccactagagt																								rs11197776	by1000genomes	TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr10:118396278_118396279insT	ENST00000537242.1	+	0	962				PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		ACAAATTATGGTTTTTTTTTTC	0.426													5	5	---	---	---	---						T	118396279	-	T	118396278	6	5	73	0	1	1	1	0	0	0	0	0	12199	1276	44	0		0	PNLIPRP2	10	118396278	RNA	INS	-	TCGA-EJ-7321-01A-31D-2260-08	101440402	118396278	17138469	34	3748											
NLRP6	171389	broad.mit.edu	37	chr11	281566	281566	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagccagaggaggaggaggAgggagaggagcccaactacc	14	1	18	8	0	0	3	0	0	0	3	0	9	0	8	3	6	4	0	3	6	2	1			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr11:281566A>G	ENST00000534750.1	+	4	2037	c.1832A>G	c.(1831-1833)gAg>gGg	p.E611G	NLRP6_ENST00000312165.5_Missense_Mutation_p.E611G	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	611	Poly-Glu.					cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GAGGAGGAGGAGGGAGAGGAG	0.662													4	156					0	0	1	0	0	G	281566	A	G	281566	3	3	73	1	0	0	0	0	1	0	0	0	10528	304	11	3	1846	3	NLRP6	11	281566	Missense_Mutation	SNP	A	TCGA-EJ-7321-01A-31D-2260-08		281566	134724950	35	3749											
CHID1	66005	broad.mit.edu	37	chr11	899384	899384	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccagacctccaccacgaaGccatcgaaatgctggttctg	10	9	8	14	2	1	1	0	0	1	1	4	3	3	1	5	1	2	2	5	1	2	2			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr11:899384G>T	ENST00000449825.1	-	7	920	c.564C>A	c.(562-564)ggC>ggA	p.G188G	CHID1_ENST00000336845.5_Silent_p.G213G|CHID1_ENST00000323578.8_Silent_p.G188G|CHID1_ENST00000323541.7_Silent_p.G218G|CHID1_ENST00000436108.2_Silent_p.G188G|CHID1_ENST00000429789.2_Silent_p.G188G|CHID1_ENST00000454838.2_Silent_p.G213G|CHID1_ENST00000526714.1_5'UTR|CHID1_ENST00000528581.1_Silent_p.G213G	NM_001142675.1	NP_001136147.1	Q9BWS9	CHID1_HUMAN	chitinase domain containing 1	188					chitin catabolic process|innate immune response	extracellular region|lysosome	cation binding|chitinase activity	p.G188G(1)		endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	13		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)		CCACCACGAAGCCATCGAAAT	0.622													4	16					0.014758	0.0153563	1	1	0	T	899384	G	T	899384	2	4	73	1	0	0	0	0	0	0	0	1	3367	958	34	4		4	CHID1	11	899384	Silent	SNP	G	TCGA-EJ-7321-01A-31D-2260-08	617818	899384	134107132	36	3750											
OR56A1	120796	broad.mit.edu	37	chr11	6048918	6048918	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagctgttgctgggtgacGccataggctgaatcatgagc	8	10	15	8	1	1	3	1	3	0	0	1	4	1	4	1	3	3	4	1	3	2	2			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr11:6048918G>C	ENST00000316650.5	-	1	53	c.17C>G	c.(16-18)gCg>gGg	p.A6G		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	6					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A6V(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTGGGTGACGCCATAGGCTG	0.488													31	65					0	0	1	0	0	C	6048918	G	C	6048918	3	2	73	1	0	0	0	0	1	0	0	0	11181	1087	38	4	943	4	OR56A1	11	6048918	Missense_Mutation	SNP	G	TCGA-EJ-7321-01A-31D-2260-08	5149534	6048918	128957598	37	3751											
OR5D18	219438	broad.mit.edu	37	chr11	55587340	55587340	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgctattcctccatcattGctcccaagatgttggtgaac	8	14	7	12	0	2	2	1	1	1	1	5	2	5	2	3	1	3	3	3	1	3	4	rs142474714	byFrequency	TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr11:55587340G>A	ENST00000333976.4	+	1	255	c.235G>A	c.(235-237)Gct>Act	p.A79T		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A79S(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				CTCCATCATTGCTCCCAAGAT	0.408													17	218					0	0	1	0	0	A	55587340	G	A	55587340	3	1	73	1	0	0	0	0	1	0	0	0	11204	1319	46	2	237	2	OR5D18	11	55587340	Missense_Mutation	SNP	G	TCGA-EJ-7321-01A-31D-2260-08	49538422	55587340	79419176	38	3752											
ZP1	22917	broad.mit.edu	37	chr11	60640728	60640728	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgctcctatgacccagccCggccccctgcggcttgagct	4	8	10	19	2	0	2	0	2	0	0	1	2	1	2	6	2	4	3	6	2	1	2	rs151198562		TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr11:60640728C>T	ENST00000278853.5	+	7	1206	c.1206C>T	c.(1204-1206)ccC>ccT	p.P402P		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	402	ZP.				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix		p.P402P(1)		breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						TGACCCAGCCCGGCCCCCTGC	0.602													33	184					0	0	1	0	0	T	60640728	C	T	60640728	2	4	73	1	0	0	0	0	0	0	0	1	18257	639	23	1		1	ZP1	11	60640728	Silent	SNP	C	TCGA-EJ-7321-01A-31D-2260-08	5053388	60640728	74365788	39	3753											
NDUFV1	4723	broad.mit.edu	37	chr11	67375932	67375932	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggattttcaccaacctgtaCggccgccatgactggaggtg	8	9	12	12	3	1	1	1	1	0	0	1	3	1	3	4	4	2	1	4	4	2	3			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr11:67375932C>T	ENST00000322776.6	+	2	291	c.138C>T	c.(136-138)taC>taT	p.Y46Y	NDUFV1_ENST00000415352.2_Silent_p.Y39Y|NDUFV1_ENST00000532303.1_Intron|NDUFV1_ENST00000529927.1_Silent_p.Y37Y	NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa	46					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16					NADH(DB00157)	CCAACCTGTACGGCCGCCATG	0.552													4	227					0	0	1	0	0	T	67375932	C	T	67375932	2	4	73	1	0	0	0	0	0	0	0	1	10346	547	19	1		1	NDUFV1	11	67375932	Silent	SNP	C	TCGA-EJ-7321-01A-31D-2260-08	6735204	67375932	67630584	40	3754											
DHCR7	1717	broad.mit.edu	37	chr11	71153385	71153385	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcagaagtcagggagagaCgtgtacagaagcacctgaaa	15	5	14	7	1	1	4	1	1	0	3	1	6	1	5	1	2	2	3	1	2	4	1			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr11:71153385C>A	ENST00000355527.3	-	5	612	c.336G>T	c.(334-336)acG>acT	p.T112T	DHCR7_ENST00000407721.2_Silent_p.T112T	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	112					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	CAGGGAGAGACGTGTACAGAA	0.587									Smith-Lemli-Opitz syndrome				5	25					0.0381472	0.0386492	1	1	0	A	71153385	C	A	71153385	2	1	73	1	0	0	0	0	0	0	0	1	4505	523	19	4		4	DHCR7	11	71153385	Silent	SNP	C	TCGA-EJ-7321-01A-31D-2260-08	3777453	71153385	63853131	41	3755											
SCN2B	6327	broad.mit.edu	37	chr11	118039353	118039353	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtccagttcagggagaactGtttgtggttcactgtgtagc	8	13	13	7	0	2	1	2	0	0	1	3	2	3	1	1	2	2	4	1	2	2	4			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr11:118039353G>A	ENST00000278947.5	-	2	425	c.184C>T	c.(184-186)Cag>Tag	p.Q62*		NM_004588.4	NP_004579.1	O60939	SCN2B_HUMAN	sodium channel, voltage-gated, type II, beta subunit	62	Ig-like C2-type.				synaptic transmission	voltage-gated sodium channel complex	voltage-gated sodium channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	7	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)		AGGGAGAACTGTTTGTGGTTC	0.592													7	348					0	0	1	0	0	A	118039353	G	A	118039353	4	1	73	1	0	0	0	0	0	1	0	0	13971	1386	48	2	475	2	SCN2B	11	118039353	Nonsense_Mutation	SNP	G	TCGA-EJ-7321-01A-31D-2260-08	46885968	118039353	16967163	42	3756											
ADAMTS15	170689	broad.mit.edu	37	chr11	130343428	130343428	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggccgtgctccgcgagctgCggcagtggcctgcagaagcg	5	5	18	13	5	0	1	0	0	0	1	1	2	1	1	3	3	5	4	3	3	1	0			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr11:130343428C>T	ENST00000299164.2	+	8	2565	c.2565C>T	c.(2563-2565)tgC>tgT	p.C855C		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	855	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		CCGCGAGCTGCGGCAGTGGCC	0.721													17	26					0	0	1	0	0	T	130343428	C	T	130343428	2	4	73	1	0	0	0	0	0	0	0	1	259	776	27	1		1	ADAMTS15	11	130343428	Silent	SNP	C	TCGA-EJ-7321-01A-31D-2260-08	12304075	130343428	4663088	43	3757											
FREM2	341640	broad.mit.edu	37	chr13	39357215	39357215	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttctctctagagccaactGtgtttattccccagtccaaa	9	15	5	12	0	2	1	0	0	2	1	5	1	4	1	4	0	2	1	4	0	4	6			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr13:39357215G>T	ENST00000280481.7	+	5	5866	c.5650G>T	c.(5650-5652)Gtg>Ttg	p.V1884L		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1884	Calx-beta 2.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AGAGCCAACTGTGTTTATTCC	0.408													4	120					0.00024832	0.000273152	1	1	0	T	39357215	G	T	39357215	3	4	73	1	0	0	0	0	1	0	0	0	6080	1377	48	4	5668	4	FREM2	13	39357215	Missense_Mutation	SNP	G	TCGA-EJ-7321-01A-31D-2260-08		39357215	75812663	44	3758											
OLFM4	10562	broad.mit.edu	37	chr13	53624777	53624777	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaaagagggcaaactagaCattgtaatgcataagatgca	17	7	12	5	0	0	3	0	0	0	3	0	4	0	4	0	2	3	4	0	2	5	4			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr13:53624777C>G	ENST00000219022.2	+	5	1482	c.1404C>G	c.(1402-1404)gaC>gaG	p.D468E		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	468	Olfactomedin-like.				cell adhesion	extracellular space				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		GCAAACTAGACATTGTAATGC	0.383													21	33					0	0	1	0	0	G	53624777	C	G	53624777	3	3	73	1	0	0	0	0	1	0	0	0	10903	477	17	4	1422	4	OLFM4	13	53624777	Missense_Mutation	SNP	C	TCGA-EJ-7321-01A-31D-2260-08	14267562	53624777	61545101	45	3759											
SERPINA6	866	broad.mit.edu	37	chr14	94776106	94776106	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcggaccacctgttaatcGtgtcccggctcagtgcagcg	6	9	12	14	4	1	0	1	0	0	0	3	1	2	1	3	2	3	3	3	2	1	1			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr14:94776106G>A	ENST00000341584.3	-	3	997	c.851C>T	c.(850-852)aCg>aTg	p.T284M		NM_001756.3	NP_001747.2	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	284					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	CCTGTTAATCGTGTCCCGGCT	0.552													5	145					0	0	1	0	0	A	94776106	G	A	94776106	3	1	73	1	0	0	0	0	1	0	0	0	14147	1145	40	1	378	1	SERPINA6	14	94776106	Missense_Mutation	SNP	G	TCGA-EJ-7321-01A-31D-2260-08		94776106	12573434	46	3760											
KCTD19	146212	broad.mit.edu	37	chr16	67337079	67337089	+	Frame_Shift_Del	DEL	CGATGAGGGCC	CGATGAGGGCC	-																															gaactcgctgcactcgcactCgatgagggccaccgtctcag																										TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr16:67337079_67337089delCGATGAGGGCC	ENST00000304372.5	-	4	658_668	c.603_613delGGCCCTCATCG	c.(601-615)gtagfs	p.VALIE201fs	KCTD19_ENST00000562860.1_5'UTR	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	201						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.A202T(1)		endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CACTCGCACTCGATGAGGGCCACCGTCTCAG	0.607													8	56	---	---	---	---						-	67337089	CGATGAGGGCC	-	67337079	7	5	73	1	0	1	0	1	0	0	0	0	8150	893	31	0	2219	0	KCTD19	16	67337079	Frame_Shift_Del	DEL	CGATGAGGGCC	TCGA-EJ-7321-01A-31D-2260-08		67337079	23017674	47	3761											
RLTPR	146206	broad.mit.edu	37	chr16	67685160	67685160	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgtggggctgggccccaggGtgaagccgctgtgcgccagg	4	6	19	12	2	0	1	0	1	0	0	0	1	0	1	4	5	2	2	4	5	1	0			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr16:67685160G>A	ENST00000334583.6	+	23	2583	c.2255G>A	c.(2254-2256)gGt>gAt	p.G752D	RLTPR_ENST00000545661.1_Missense_Mutation_p.G716D	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	752										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GGGCCCCAGGGTGAAGCCGCT	0.602													5	60					0	0	1	0	0	A	67685160	G	A	67685160	3	1	73	1	0	0	0	0	1	0	0	0	13446	1261	44	2	2345	2	RLTPR	16	67685160	Missense_Mutation	SNP	G	TCGA-EJ-7321-01A-31D-2260-08	348081	67685160	22669593	48	3762											
PRPF8	10594	broad.mit.edu	37	chr17	1563822	1563822	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagcgtggggatcttgccGtgcatgaagatacccgtcag	8	10	13	10	3	3	2	2	1	1	1	3	3	3	3	2	2	4	1	2	2	2	3	rs148287873	byFrequency	TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr17:1563822G>A	ENST00000572621.1	-	29	4954	c.4689C>T	c.(4687-4689)caC>caT	p.H1563H	PRPF8_ENST00000304992.6_Silent_p.H1563H			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1563						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GGATCTTGCCGTGCATGAAGA	0.498													4	177					0	0	1	0	0	A	1563822	G	A	1563822	2	1	73	1	0	0	0	0	0	0	0	1	12627	1136	40	1		1	PRPF8	17	1563822	Silent	SNP	G	TCGA-EJ-7321-01A-31D-2260-08		1563822	79631388	49	3763											
ZNF652	22834	broad.mit.edu	37	chr17	47394309	47394309	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taacgttcatgtgcttctccAggtaccagcgagtgttaaat	10	13	9	9	2	2	0	1	0	1	0	3	1	2	0	2	1	4	4	2	1	4	5			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr17:47394309A>G	ENST00000362063.2	-	2	1097	c.779T>C	c.(778-780)cTg>cCg	p.L260P	ZNF652_ENST00000430262.2_Missense_Mutation_p.L260P	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	260					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			GTGCTTCTCCAGGTACCAGCG	0.478													10	59					0	0	1	0	0	G	47394309	A	G	47394309	3	3	73	1	0	0	0	0	1	0	0	0	18122	188	7	3	1061	3	ZNF652	17	47394309	Missense_Mutation	SNP	A	TCGA-EJ-7321-01A-31D-2260-08	45830487	47394309	33800901	50	3764											
TJP3	27134	broad.mit.edu	37	chr19	3730081	3730081	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatggagaatgccacctccGcgtttgccattcagatactc	9	10	8	14	2	1	2	1	0	0	2	3	3	2	2	5	1	3	1	5	1	2	3	rs140801428	byFrequency	TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr19:3730081G>A	ENST00000541714.2	+	4	676	c.214G>A	c.(214-216)Gcg>Acg	p.A72T	TJP3_ENST00000589378.1_Missense_Mutation_p.A81T|TJP3_ENST00000262968.9_Missense_Mutation_p.A91T|TJP3_ENST00000382008.3_Missense_Mutation_p.A72T|TJP3_ENST00000539908.2_Missense_Mutation_p.A36T|TJP3_ENST00000587686.1_Missense_Mutation_p.A91T	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	72	PDZ 1.					tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCCACCTCCGCGTTTGCCAT	0.597													6	148					0	0	1	0	0	A	3730081	G	A	3730081	3	1	73	1	0	0	0	0	1	0	0	0	15991	1087	38	1	281	1	TJP3	19	3730081	Missense_Mutation	SNP	G	TCGA-EJ-7321-01A-31D-2260-08		3730081	55398902	51	3765											
GPR108	56927	broad.mit.edu	37	chr19	6731293	6731293	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaagtagacgtagcagatgaCctgcaggggcgcgagcaggc	11	4	17	9	3	0	3	0	1	0	2	0	5	0	3	1	3	3	5	1	3	3	2			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr19:6731293C>A	ENST00000264080.7	-	16	1377	c.1350_splice	c.e16-1	p.V451_splice	GPR108_ENST00000598626.1_5'UTR|GPR108_ENST00000430424.4_Splice_Site_p.V209_splice	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	451						integral to membrane				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						TAGCAGATGACCTGCAGGGGC	0.677													9	44					2.17888e-05	2.46726e-05	1	1	0	A	6731293	C	A	6731293	5	1	73	1	0	0	0	0	0	0	1	0	6664	521	18	4	292	4	GPR108	19	6731293	Splice_Site	SNP	C	TCGA-EJ-7321-01A-31D-2260-08	3001212	6731293	52397690	52	3766											
CPAMD8	27151	broad.mit.edu	37	chr19	17081776	17081776	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagcggggacagcctcatcgGtgtagaggccaccgtcctgc	8	6	14	13	3	1	1	1	0	0	1	3	2	2	2	4	4	3	1	4	4	2	1			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr19:17081776G>T	ENST00000443236.1	-	18	2310	c.2279C>A	c.(2278-2280)aCc>aAc	p.T760N	CPAMD8_ENST00000388925.4_Missense_Mutation_p.H502Q	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	713						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						AGCCTCATCGGTGTAGAGGCC	0.612													21	48					3.62473e-10	4.36101e-10	1	1	0	T	17081776	G	T	17081776	3	4	73	1	0	0	0	0	1	0	0	0	3818	1261	44	4	3619	4	CPAMD8	19	17081776	Missense_Mutation	SNP	G	TCGA-EJ-7321-01A-31D-2260-08	10350483	17081776	42047207	53	3767											
PDE4C	5143	broad.mit.edu	37	chr19	18322726	18322726	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtggggttgctcagatcaGcacagtgcaccaggttctgc	7	10	14	10	0	3	1	2	0	1	1	3	1	3	1	1	4	4	5	1	4	0	2			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr19:18322726G>A	ENST00000355502.3	-	18	2505	c.1634C>T	c.(1633-1635)gCt>gTt	p.A545V	PDE4C_ENST00000594617.2_Missense_Mutation_p.A545V|PDE4C_ENST00000539010.1_Missense_Mutation_p.A314V|AC068499.10_ENST00000594805.2_RNA|PDE4C_ENST00000594465.2_Missense_Mutation_p.A545V|PDE4C_ENST00000447275.2_Missense_Mutation_p.A439V|PDE4C_ENST00000262805.11_Missense_Mutation_p.A513V			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	545					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	GCTCAGATCAGCACAGTGCAC	0.642													3	80					0	0	1	0	0	A	18322726	G	A	18322726	3	1	73	1	0	0	0	0	1	0	0	0	11688	971	34	2	512	2	PDE4C	19	18322726	Missense_Mutation	SNP	G	TCGA-EJ-7321-01A-31D-2260-08	1240950	18322726	40806257	54	3768											
FBXO46	23403	broad.mit.edu	37	chr19	46215458	46215458	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctcggcatcgtctgggccGggcgcagtggccggggagtc	3	6	18	14	5	1	0	0	0	1	0	4	1	1	1	3	6	0	2	3	6	0	0			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr19:46215458G>A	ENST00000317683.3	-	2	1429	c.1296C>T	c.(1294-1296)ccC>ccT	p.P432P		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	432							protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		CGTCTGGGCCGGGCGCAGTGG	0.716													2	6					0	0	1	0	0	A	46215458	G	A	46215458	2	1	73	1	0	0	0	0	0	0	0	1	5788	1103	39	1		1	FBXO46	19	46215458	Silent	SNP	G	TCGA-EJ-7321-01A-31D-2260-08	27892732	46215458	12913525	55	3769											
HAO1	54363	broad.mit.edu	37	chr20	7875791	7875791	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaaactcacagtggctggcaCcccatcgagttgtcgagccc	10	7	10	14	2	1	0	1	0	0	0	3	2	1	0	3	2	2	3	3	2	2	1			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr20:7875791C>T	ENST00000378789.3	-	5	853	c.802G>A	c.(802-804)Gtg>Atg	p.V268M		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	268	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GTGGCTGGCACCCCATCGAGT	0.488													35	107					0	0	1	0	0	T	7875791	C	T	7875791	3	4	73	1	0	0	0	0	1	0	0	0	6992	507	18	2	326	2	HAO1	20	7875791	Missense_Mutation	SNP	C	TCGA-EJ-7321-01A-31D-2260-08		7875791	55149729	56	3770											
SULF2	55959	broad.mit.edu	37	chr20	46295212	46295212	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgagcggatggagcgactgcGgacatagctggccttgtact	8	9	15	9	3	0	1	0	1	0	0	0	5	0	4	1	4	5	2	1	4	2	3	rs140175454		TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chr20:46295212G>A	ENST00000359930.4	-	12	2448	c.1597C>T	c.(1597-1599)Cgc>Tgc	p.R533C	SULF2_ENST00000484875.1_Missense_Mutation_p.R533C|SULF2_ENST00000467815.1_Missense_Mutation_p.R533C|SULF2_ENST00000361612.4_Missense_Mutation_p.R533C	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	533					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						GAGCGACTGCGGACATAGCTG	0.627													3	156					0	0	1	0	0	A	46295212	G	A	46295212	3	1	73	1	0	0	0	0	1	0	0	0	15427	1116	39	1	1055	1	SULF2	20	46295212	Missense_Mutation	SNP	G	TCGA-EJ-7321-01A-31D-2260-08	38419421	46295212	16730308	57	3771											
FAM47A	158724	broad.mit.edu	37	chrX	34150170	34150170	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agatattttggggagtaaaaActcgtcacggcgacaaacga	15	8	11	7	4	1	1	1	0	0	1	2	4	1	2	0	3	2	1	0	3	5	4			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chrX:34150170A>T	ENST00000346193.3	-	1	277	c.226T>A	c.(226-228)Ttt>Att	p.F76I		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	76										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GGGAGTAAAAACTCGTCACGG	0.532													7	28					0	0	1	0	0	T	34150170	A	T	34150170	3	4	73	1	0	0	0	0	1	0	0	0	5605	43	2	5	2153	5	FAM47A	23	34150170	Missense_Mutation	SNP	A	TCGA-EJ-7321-01A-31D-2260-08		34150170	121120390	58	3772											
GPRASP2	114928	broad.mit.edu	37	chrX	101972035	101972035	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatgctattgaatttgtcTgaaaatcctgctgtggcaaa	14	13	8	6	0	1	2	0	2	1	0	2	2	2	2	1	1	2	3	1	1	7	3			TCGA-EJ-7321-01A-31D-2260-08	TCGA-EJ-7321-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aaf38195-2e17-457f-bb4c-a8a44fc5e877	7132d9c7-5196-48c8-a3ce-fa2f34c7be74	g.chrX:101972035T>G	ENST00000543253.1	+	5	3157	c.2238T>G	c.(2236-2238)tcT>tcG	p.S746S	GPRASP2_ENST00000535209.1_Silent_p.S746S|GPRASP2_ENST00000332262.5_Silent_p.S746S	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2											breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						TGAATTTGTCTGAAAATCCTG	0.368													5	53					0	0	1	0	0	G	101972035	T	G	101972035	2	3	73	1	0	0	0	0	0	0	0	1	6764	1567	55	5		5	GPRASP2	23	101972035	Silent	SNP	T	TCGA-EJ-7321-01A-31D-2260-08	67821865	101972035	53298525	59	3773											
POGZ	23126	broad.mit.edu	37	chr1	151377502	151377515	+	Frame_Shift_Del	DEL	TAATGTTGCCATCG	TAATGTTGCCATCG	-																															agcatttcttgtaggtgagtTaatgttgccatcggggccag																										TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr1:151377502_151377515delTAATGTTGCCATCG	ENST00000271715.2	-	19	4310_4323	c.3996_4009delCGATGGCAACATTA	c.(3994-4011)ccacfs	p.PDGNIN1332fs	POGZ_ENST00000368863.2_Frame_Shift_Del_p.PDGNIN1237fs|POGZ_ENST00000392723.1_Frame_Shift_Del_p.PDGNIN1279fs|POGZ_ENST00000409503.1_Frame_Shift_Del_p.PDGNIN1323fs|POGZ_ENST00000491586.1_Frame_Shift_Del_p.PDGNIN1288fs|POGZ_ENST00000540984.1_Frame_Shift_Del_p.PDGNIN694fs|POGZ_ENST00000361398.3_Frame_Shift_Del_p.PDGNIN1279fs|POGZ_ENST00000531094.1_Frame_Shift_Del_p.PDGNIN1270fs	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1332					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GTAGGTGAGTTAATGTTGCCATCGGGGCCAGGCA	0.542											OREG0003905	type=REGULATORY REGION|Gene=POGZ|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	7	35	---	---	---	---						-	151377515	TAATGTTGCCATCG	-	151377502	7	5	74	1	0	1	0	1	0	0	0	0	12234	1754	61	0	227	0	POGZ	1	151377502	Frame_Shift_Del	DEL	TAATGTTGCCATCG	TCGA-EJ-7327-01A-11D-2114-08		151377502	97873119	1	3774											
AIM2	9447	broad.mit.edu	37	chr1	159035790	159035790	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtttcaccagcttttctgatAatgttcagcgggacattaac	10	14	8	9	1	3	1	2	1	1	0	3	2	3	2	1	1	3	3	1	1	2	6			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr1:159035790A>T	ENST00000368130.4	-	4	1014	c.726T>A	c.(724-726)atT>atA	p.I242I	AIM2_ENST00000481829.1_Intron	NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	242	HIN-200.				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus				breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					CTTTTCTGATAATGTTCAGCG	0.428													10	58					0	0	0.069234	0	0	T	159035790	A	T	159035790	2	4	74	1	0	0	0	0	0	0	0	1	429	358	13	5		5	AIM2	1	159035790	Silent	SNP	A	TCGA-EJ-7327-01A-11D-2114-08	7658288	159035790	90214831	2	3775											
C1orf65	164127	broad.mit.edu	37	chr1	223566906	223566906	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaacgagagtccacgcagcGgctgggcgggcagaggtccg	9	3	18	11	5	0	3	0	0	0	3	2	4	2	3	2	4	2	3	2	4	1	0			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr1:223566906G>A	ENST00000366875.3	+	1	192	c.89G>A	c.(88-90)cGg>cAg	p.R30Q		NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN	chromosome 1 open reading frame 65	30										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		TCCACGCAGCGGCTGGGCGGG	0.736													4	10					0	0	0.014758	0	0	A	223566906	G	A	223566906	3	1	74	1	0	0	0	0	1	0	0	0	2069	1116	39	1	91	1	C1orf65	1	223566906	Missense_Mutation	SNP	G	TCGA-EJ-7327-01A-11D-2114-08	64531116	223566906	25683715	3	3776											
YWHAQ	10971	broad.mit.edu	37	chr2	9731521	9731522	+	Splice_Site	INS	-	-	TT																															atataacaaataaacttacgINSttttcgatcatcaccacacg																										TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr2:9731521_9731522insTT	ENST00000381844.4	-	2	580_581	c.418_splice	c.e2+1	p.N140_splice	YWHAQ_ENST00000474715.1_5'UTR|YWHAQ_ENST00000238081.3_Splice_Site_p.N140_splice			P27348	1433T_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide	140					negative regulation of transcription, DNA-dependent	centrosome|nucleus	protein N-terminus binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.241)		ATAAACTTACGTTTTCGATCAT	0.381													18	50	---	---	---	---						TT	9731522	-	TT	9731521	8	5	74	1	0	1	1	0	0	0	1	0	17565	1159	40	0	335	0	YWHAQ	2	9731521	Splice_Site	INS	-	TCGA-EJ-7327-01A-11D-2114-08		9731521	233467852	4	3777											
ROBO2	6092	broad.mit.edu	37	chr3	77693942	77693942	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttcttctaagggatccaCtggacctaggaaaaccgagg	12	8	11	10	1	2	0	0	0	2	0	3	4	3	3	3	4	2	1	3	4	4	4			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr3:77693942C>G	ENST00000461745.1	+	25	4922	c.4022C>G	c.(4021-4023)aCt>aGt	p.T1341S	ROBO2_ENST00000487694.3_Missense_Mutation_p.T1357S|ROBO2_ENST00000332191.8_Missense_Mutation_p.T1402S	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1341					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AAGGGATCCACTGGACCTAGG	0.517													5	62					0	0	0.014758	0	0	G	77693942	C	G	77693942	3	3	74	1	0	0	0	0	1	0	0	0	13566	565	20	4	4122	4	ROBO2	3	77693942	Missense_Mutation	SNP	C	TCGA-EJ-7327-01A-11D-2114-08		77693942	120328488	5	3778											
GP5	2814	broad.mit.edu	37	chr3	194118889	194118889	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcctagcgcggagatgcgCgccacgtcgccccccgagca	7	3	14	17	7	0	1	0	0	0	1	1	3	0	1	5	2	3	1	5	2	1	1			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr3:194118889C>T	ENST00000401815.1	-	1	194	c.123G>A	c.(121-123)gcG>gcA	p.A41A	GP5_ENST00000323007.3_Silent_p.A41A			P40197	GPV_HUMAN	glycoprotein V (platelet)	41	LRRNT.				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		CGGAGATGCGCGCCACGTCGC	0.706													13	28					0	0	0.020292	0	0	T	194118889	C	T	194118889	2	4	74	1	0	0	0	0	0	0	0	1	6623	755	27	1		1	GP5	3	194118889	Silent	SNP	C	TCGA-EJ-7327-01A-11D-2114-08	116424947	194118889	3903541	6	3779											
CORIN	10699	broad.mit.edu	37	chr4	47809012	47809012	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accggaggaggttagcagtcGccagcttctgagagcagcca	10	6	14	11	2	1	1	0	1	1	1	2	4	1	3	3	3	4	4	3	3	1	2			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr4:47809012G>A	ENST00000273857.4	-	2	115	c.116C>T	c.(115-117)gCg>gTg	p.A39V	CORIN_ENST00000502252.1_Missense_Mutation_p.A39V|CORIN_ENST00000505909.1_Missense_Mutation_p.A39V|CORIN_ENST00000504584.1_Missense_Mutation_p.A39V	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	39					peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						GTTAGCAGTCGCCAGCTTCTG	0.453													5	25					0	0	0.021553	0	0	A	47809012	G	A	47809012	3	1	74	1	0	0	0	0	1	0	0	0	3775	1087	38	1	3096	1	CORIN	4	47809012	Missense_Mutation	SNP	G	TCGA-EJ-7327-01A-11D-2114-08		47809012	143345264	7	3780											
RCHY1	25898	broad.mit.edu	37	chr4	76417113	76417113	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcctacctccaaacatattgGacaattctgtcgggacacat	12	10	7	12	1	1	0	0	0	1	0	3	2	2	2	3	2	2	0	3	2	4	4			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr4:76417113G>T	ENST00000324439.5	-	5	834	c.436C>A	c.(436-438)Cca>Aca	p.P146T	RCHY1_ENST00000451788.1_Missense_Mutation_p.P146T|RCHY1_ENST00000512706.1_Missense_Mutation_p.P124T|RCHY1_ENST00000513257.1_Missense_Mutation_p.P146T|RCHY1_ENST00000380840.2_Missense_Mutation_p.P106T	NM_001278536.1|NM_001278538.1|NM_001278539.1	NP_001265465.1|NP_001265467.1|NP_001265468.1	Q96PM5	ZN363_HUMAN	ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase	146					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein autoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nuclear speck|ubiquitin ligase complex	electron carrier activity|p53 binding|protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|pancreas(1)	3			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			AAACATATTGGACAATTCTGT	0.284													12	35					1.33834e-09	2.00751e-09	0.043863	1	0	T	76417113	G	T	76417113	3	4	74	1	0	0	0	0	1	0	0	0	13229	1174	41	4	369	4	RCHY1	4	76417113	Missense_Mutation	SNP	G	TCGA-EJ-7327-01A-11D-2114-08	28608101	76417113	114737163	8	3781											
NPY1R	0	broad.mit.edu	37	chr4	164247226	164247226	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagcaaggacccaaatcaCagcaatacctacataagcat	18	5	5	13	0	1	0	1	0	0	0	1	1	1	1	2	1	5	3	2	1	6	3			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr4:164247226C>A	ENST00000296533.2	-	2	1012	c.481G>T	c.(481-483)Gtg>Ttg	p.V161L	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	161					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				ACCCAAATCACAGCAATACCT	0.433													13	25					7.03913e-09	1.01946e-08	0.09319	1	0	A	164247226	C	A	164247226	3	1	74	1	0	0	0	0	1	0	0	0	10656	478	17	4	681	4	NPY1R	4	164247226	Missense_Mutation	SNP	C	TCGA-EJ-7327-01A-11D-2114-08	87830113	164247226	26907050	9	3782											
PDZD2	23037	broad.mit.edu	37	chr5	31983565	31983565	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgaccctgaacttggaaacGgccatgtctttcagctagaa	11	10	9	11	1	2	3	1	2	1	1	2	4	2	4	2	2	3	1	2	2	4	3			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr5:31983565G>A	ENST00000438447.1	+	3	1169	c.781G>A	c.(781-783)Ggc>Agc	p.G261S	PDZD2_ENST00000282493.3_Missense_Mutation_p.G261S			O15018	PDZD2_HUMAN	PDZ domain containing 2	261					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						ACTTGGAAACGGCCATGTCTT	0.557													4	74					0	0	0.009096	0	0	A	31983565	G	A	31983565	3	1	74	1	0	0	0	0	1	0	0	0	11748	1116	39	1	787	1	PDZD2	5	31983565	Missense_Mutation	SNP	G	TCGA-EJ-7327-01A-11D-2114-08		31983565	148931695	10	3783											
CDX1	1044	broad.mit.edu	37	chr5	149562382	149562382	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctacaccgaccaccaacGcctggagctggagaaggagt	11	5	13	12	2	1	1	0	0	1	1	1	5	1	3	4	4	3	1	4	4	3	1			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr5:149562382G>T	ENST00000231656.8	+	2	579	c.497G>T	c.(496-498)cGc>cTc	p.R166L		NM_001804.2	NP_001795.2	P47902	CDX1_HUMAN	caudal type homeobox 1	166						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|lung(1)|ovary(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GACCACCAACGCCTGGAGCTG	0.567													58	127					3.21867e-24	5.00683e-24	0.048971	1	0	T	149562382	G	T	149562382	3	4	74	1	0	0	0	0	1	0	0	0	3204	1087	38	4	503	4	CDX1	5	149562382	Missense_Mutation	SNP	G	TCGA-EJ-7327-01A-11D-2114-08	117578817	149562382	31352878	11	3784											
IRF4	3662	broad.mit.edu	37	chr6	397161	397161	+	Frame_Shift_Del	DEL	C	C	-																															cgaagctggagggactacgtCccggatcagccacacccgga																										TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr6:397161delC	ENST00000380956.4	+	5	672	c.546delC	c.(544-546)gtfs	p.V182fs	IRF4_ENST00000495137.1_3'UTR	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	182					interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		GGGACTACGTCCCGGATCAGC	0.567			T	IGH@	MM								25	119	---	---	---	---						-	397161	C	-	397161	7	5	74	1	0	1	0	1	0	0	0	0	7876	842	30	0	560	0	IRF4	6	397161	Frame_Shift_Del	DEL	C	TCGA-EJ-7327-01A-11D-2114-08		397161	170717906	12	3785											
PHACTR1	221692	broad.mit.edu	37	chr6	13206177	13206177	+	Frame_Shift_Del	DEL	G	G	-																															gtgtcctacacagcccagaaGagtggccagcagggtgtggc																										TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr6:13206177delG	ENST00000379350.1	+	7	924	c.795delG	c.(793-795)aafs	p.K265fs	PHACTR1_ENST00000332995.7_Frame_Shift_Del_p.K265fs|PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000457702.2_Frame_Shift_Del_p.K120fs			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	265						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			CAGCCCAGAAGAGTGGCCAGC	0.627													18	58	---	---	---	---						-	13206177	G	-	13206177	7	5	74	1	0	1	0	1	0	0	0	0	11857	933	33	0	817	0	PHACTR1	6	13206177	Frame_Shift_Del	DEL	G	TCGA-EJ-7327-01A-11D-2114-08	12809016	13206177	157908890	13	3786											
HIST1H2AI	8329	broad.mit.edu	37	chr6	27776019	27776019	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcaagcagggaggcaaagCtcgcgccaaggccaagaccc	12	2	14	13	2	0	1	0	0	0	1	1	2	0	2	3	4	2	4	3	4	4	0			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr6:27776019C>T	ENST00000358739.3	+	1	121	c.32C>T	c.(31-33)gCt>gTt	p.A11V		NM_003509.2	NP_003500.1			histone cluster 1, H2ai											lung(3)	3						GGAGGCAAAGCTCGCGCCAAG	0.547													19	82					0	0	0.055883	0	0	T	27776019	C	T	27776019	3	4	74	1	0	0	0	0	1	0	0	0	7176	797	28	2	34	2	HIST1H2AI	6	27776019	Missense_Mutation	SNP	C	TCGA-EJ-7327-01A-11D-2114-08	14569842	27776019	143339048	14	3787											
CDC5L	988	broad.mit.edu	37	chr6	44371735	44371735	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagatttcaggaaattaagAcaacaggatcttgatgggga	15	9	12	5	0	2	3	1	1	1	2	2	6	2	6	0	4	1	1	0	4	3	3			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr6:44371735A>T	ENST00000371477.3	+	6	1028	c.729A>T	c.(727-729)agA>agT	p.R243S		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	243					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGAAATTAAGACAACAGGATC	0.398													16	32					0	0	0.043863	0	0	T	44371735	A	T	44371735	3	4	74	1	0	0	0	0	1	0	0	0	3104	272	10	5	751	5	CDC5L	6	44371735	Missense_Mutation	SNP	A	TCGA-EJ-7327-01A-11D-2114-08	16595716	44371735	126743332	15	3788											
CARD11	84433	broad.mit.edu	37	chr7	2984130	2984130	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgctgcagcttgatgacctCgttcatcaggaagtgcgtga	8	11	12	10	2	2	3	2	3	0	0	3	4	2	4	1	1	4	4	1	1	1	2			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr7:2984130C>T	ENST00000396946.4	-	5	803	c.400G>A	c.(400-402)Gag>Aag	p.E134K	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	134					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TTGATGACCTCGTTCATCAGG	0.602			Mis		DLBCL								12	39					0	0	0.080935	0	0	T	2984130	C	T	2984130	3	4	74	1	0	0	0	0	1	0	0	0	2663	893	31	1	3148	1	CARD11	7	2984130	Missense_Mutation	SNP	C	TCGA-EJ-7327-01A-11D-2114-08		2984130	156154533	16	3789											
DNAH11	8701	broad.mit.edu	37	chr7	21882351	21882351	+	Frame_Shift_Del	DEL	T	T	-																															gtcagtattgaaaggccagaTttggagaaacttaaggtaaa																										TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr7:21882351delT	ENST00000328843.6	+	67	10933	c.10902delT	c.(10900-10902)gafs	p.D3634fs	DNAH11_ENST00000409508.3_Frame_Shift_Del_p.D3627fs			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3634	AAA 5 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AAAGGCCAGATTTGGAGAAAC	0.423									Kartagener syndrome				2	4	---	---	---	---						-	21882351	T	-	21882351	7	5	74	1	0	1	0	1	0	0	0	0	4627	1490	52	0	11165	0	DNAH11	7	21882351	Frame_Shift_Del	DEL	T	TCGA-EJ-7327-01A-11D-2114-08	18898221	21882351	137256312	17	3790											
CA8	767	broad.mit.edu	37	chr8	61178528	61178528	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaccgtgtgctcagaaccacGctggttttctcttccccagt	7	12	8	14	2	2	1	1	0	1	1	4	1	3	1	4	1	3	3	4	1	2	3			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr8:61178528G>A	ENST00000317995.4	-	3	637	c.373C>T	c.(373-375)Cgt>Tgt	p.R125C		NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN	carbonic anhydrase VIII	125					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding			endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)				TCAGAACCACGCTGGTTTTCT	0.383													5	24					0	0	0.02938	0	0	A	61178528	G	A	61178528	3	1	74	1	0	0	0	0	1	0	0	0	2541	1087	38	1	523	1	CA8	8	61178528	Missense_Mutation	SNP	G	TCGA-EJ-7327-01A-11D-2114-08		61178528	85185494	18	3791											
DNAJB5	25822	broad.mit.edu	37	chr9	34997172	34997172	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaactcagcgaggagacctCattgttgagttcaaagttcg	11	10	10	10	2	3	2	3	1	0	1	4	4	3	2	2	1	2	3	2	1	2	4			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr9:34997172C>T	ENST00000541010.1	+	3	3975	c.963C>T	c.(961-963)ctC>ctT	p.L321L	DNAJB5_ENST00000312316.5_Silent_p.L321L|DNAJB5_ENST00000335998.3_Silent_p.L355L|DNAJB5_ENST00000454002.2_Silent_p.L393L|DNAJB5_ENST00000453597.3_Silent_p.L435L|DNAJB5_ENST00000545841.1_Silent_p.L321L			O75953	DNJB5_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 5	321					protein folding|response to unfolded protein		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(32;0.00575)			GAGGAGACCTCATTGTTGAGT	0.547													33	54					0	0	0.059317	0	0	T	34997172	C	T	34997172	2	4	74	1	0	0	0	0	0	0	0	1	4650	813	29	2		2	DNAJB5	9	34997172	Silent	SNP	C	TCGA-EJ-7327-01A-11D-2114-08		34997172	106216259	19	3792											
SLC16A12	387700	broad.mit.edu	37	chr10	91222287	91222287	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggttgctccaacagccAagttatgatcttggaagagt	11	11	10	9	0	1	2	0	1	1	1	3	3	3	3	3	2	3	3	3	2	4	3	rs3740030	by1000genomes	TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr10:91222287A>C	ENST00000371790.4	-	3	349	c.49T>G	c.(49-51)Tgg>Ggg	p.W17G	RP11-168O10.6_ENST00000454270.1_RNA|SLC16A12_ENST00000341233.4_5'UTR			Q6ZSM3	MOT12_HUMAN	solute carrier family 16, member 12	0						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						TCCAACAGCCAAGTTATGATC	0.478													2	11					0	0	0.004672	0	0	C	91222287	A	C	91222287	3	2	74	1	0	0	0	0	1	0	0	0	14460	130	5	5	1525	5	SLC16A12	10	91222287	Missense_Mutation	SNP	A	TCGA-EJ-7327-01A-11D-2114-08		91222287	44312460	20	3793											
JAKMIP3	282973	broad.mit.edu	37	chr10	133949433	133949433	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acatagtgcgttgtctttcaGttgaagcgcgtaagagaagc	11	11	12	7	3	2	2	1	1	1	1	2	3	2	2	0	0	3	3	0	0	4	5			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr10:133949433G>T	ENST00000298622.4	+	5	1107		c.e5-1			NM_001105521.2	NP_001098991.1			Janus kinase and microtubule interacting protein 3											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		TTGTCTTTCAGTTGAAGCGCG	0.507													3	12					0.004672	0.0065408	0.004672	1	0	T	133949433	G	T	133949433	5	4	74	1	0	0	0	0	0	0	1	0	7986	1043	36	4	987	4	JAKMIP3	10	133949433	Splice_Site	SNP	G	TCGA-EJ-7327-01A-11D-2114-08	42727146	133949433	1585314	21	3794											
NLRP10	338322	broad.mit.edu	37	chr11	7982637	7982637	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgtctttccagtgccagcCgacccctgtagcacaactaa	9	10	8	14	1	1	0	0	0	1	0	2	1	2	0	5	0	4	3	5	0	3	4			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr11:7982637C>T	ENST00000328600.2	-	2	683	c.522G>A	c.(520-522)tcG>tcA	p.S174S		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	174	NACHT.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CAGTGCCAGCCGACCCCTGTA	0.542													6	28					0	0	0.021553	0	0	T	7982637	C	T	7982637	2	4	74	1	0	0	0	0	0	0	0	1	10519	639	23	1		1	NLRP10	11	7982637	Silent	SNP	C	TCGA-EJ-7327-01A-11D-2114-08		7982637	127023879	22	3795											
IL10RA	3587	broad.mit.edu	37	chr11	117864087	117864087	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttcagtcacttccgagagTatgagattgccattcgcaag	10	12	9	10	2	3	2	2	1	1	2	5	4	4	2	2	0	1	2	2	0	2	5			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr11:117864087T>C	ENST00000227752.3	+	4	619	c.499T>C	c.(499-501)Tat>Cat	p.Y167H	IL10RA_ENST00000545409.1_Missense_Mutation_p.Y18H|IL10RA_ENST00000533700.1_3'UTR|IL10RA_ENST00000541785.1_Missense_Mutation_p.Y147H	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	167						integral to membrane|plasma membrane	interleukin-10 receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		CTTCCGAGAGTATGAGATTGC	0.567													3	55					0	0	0.004672	0	0	C	117864087	T	C	117864087	3	2	74	1	0	0	0	0	1	0	0	0	7664	1638	57	3	513	3	IL10RA	11	117864087	Missense_Mutation	SNP	T	TCGA-EJ-7327-01A-11D-2114-08	109881450	117864087	17142429	23	3796											
TUBA3C	7278	broad.mit.edu	37	chr13	19748253	19748253	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcccgctgcaccttggccAggtctcccccagggaccacc	6	5	10	20	1	1	0	0	0	1	0	2	1	1	1	7	3	2	2	7	3	0	1			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr13:19748253A>T	ENST00000400113.3	-	5	1207	c.1103T>A	c.(1102-1104)cTg>cAg	p.L368Q		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	368					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CACCTTGGCCAGGTCTCCCCC	0.582													16	53					0	0	0.028581	0	0	T	19748253	A	T	19748253	3	4	74	1	0	0	0	0	1	0	0	0	16808	188	7	5	253	5	TUBA3C	13	19748253	Missense_Mutation	SNP	A	TCGA-EJ-7327-01A-11D-2114-08		19748253	95421625	24	3797											
MTUS2	23281	broad.mit.edu	37	chr13	29600340	29600340	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacgggaaagcaaagaggTcaccacatctgttgctgaaa	15	6	11	9	1	2	2	1	1	1	1	2	3	2	3	1	2	3	4	1	2	3	1			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr13:29600340T>A	ENST00000431530.3	+	1	1593	c.1535T>A	c.(1534-1536)gTc>gAc	p.V512D		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	502						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AGCAAAGAGGTCACCACATCT	0.493													6	19					0	0	0.021553	0	0	A	29600340	T	A	29600340	3	1	74	1	0	0	0	0	1	0	0	0	10014	1667	58	5	1537	5	MTUS2	13	29600340	Missense_Mutation	SNP	T	TCGA-EJ-7327-01A-11D-2114-08	9852087	29600340	85569538	25	3798											
TNP2	7142	broad.mit.edu	37	chr16	11363130	11363130	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggtgtccataggaggccacGtttggaggggcagggcctcc	6	7	18	10	1	0	0	0	0	0	0	2	2	2	2	4	7	0	2	4	7	1	2			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr16:11363130G>A	ENST00000312693.3	-	0	59				RMI2_ENST00000572173.1_Intron	NM_005425.4	NP_005416.1	Q05952	STP2_HUMAN	transition protein 2 (during histone to protamine replacement)						cell differentiation|multicellular organismal development|spermatogenesis	nucleosome|nucleus	DNA binding	p.0?(1)		large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						AGGAGGCCACGTTTGGAGGGG	0.587													4	44					0	0	0.009096	0	0	A	11363130	G	A	11363130	1	1	74	1	0	0	0	0	0	0	0	0	16394	1160	40	1		1	TNP2	16	11363130	Translation_Start_Site	SNP	G	TCGA-EJ-7327-01A-11D-2114-08		11363130	78991623	26	3799											
SCN4A	6329	broad.mit.edu	37	chr17	62022975	62022975	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatgatggaggggatggcGcctaggagggcgttcaccac	8	8	16	9	2	2	1	2	1	0	0	2	4	2	4	2	6	0	1	2	6	1	3			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr17:62022975G>A	ENST00000578147.1	-	19	3541	c.3465C>T	c.(3463-3465)ggC>ggT	p.G1155G	SCN4A_ENST00000435607.1_Silent_p.G1155G			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1155					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	AGGGGATGGCGCCTAGGAGGG	0.592													25	120					0	0	0.0918	0	0	A	62022975	G	A	62022975	2	1	74	1	0	0	0	0	0	0	0	1	13974	1074	38	1		1	SCN4A	17	62022975	Silent	SNP	G	TCGA-EJ-7327-01A-11D-2114-08		62022975	19172235	27	3800											
UQCR10	29796	broad.mit.edu	37	chr22	30163414	30163414	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccgcgacgttgacttcgaaAttgtactccctgctgttccg	6	12	10	13	5	0	1	0	1	0	0	3	3	2	1	3	0	2	4	3	0	2	5	rs17849991		TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chr22:30163414A>G	ENST00000330029.6	+	1	57	c.27A>G	c.(25-27)aaA>aaG	p.K9K	UQCR10_ENST00000401406.3_Silent_p.K9K	NM_001003684.1|NM_013387.3	NP_001003684.1|NP_037519.2	Q9UDW1	QCR9_HUMAN	ubiquinol-cytochrome c reductase, complex III subunit X	9					mitochondrial electron transport, ubiquinol to cytochrome c	mitochondrial inner membrane|respiratory chain	ubiquinol-cytochrome-c reductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)	5						TGACTTCGAAATTGTACTCCC	0.627													5	25					0	0	0.02938	0	0	G	30163414	A	G	30163414	2	3	74	1	0	0	0	0	0	0	0	1	17076	98	4	3		3	UQCR10	22	30163414	Silent	SNP	A	TCGA-EJ-7327-01A-11D-2114-08		30163414	21141152	28	3801											
WWC3	55841	broad.mit.edu	37	chrX	10058810	10058810	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgatttttctgttttaactaGgattgatcggaagatgtcaa	11	17	9	4	1	2	3	1	2	1	1	3	5	2	5	0	2	1	1	0	2	4	6			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chrX:10058810G>A	ENST00000380861.4	+	6	768		c.e6-1		WWC3_ENST00000454666.1_Splice_Site	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3											NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						GTTTTAACTAGGATTGATCGG	0.423													9	13					0	0	0.047766	0	0	A	10058810	G	A	10058810	5	1	74	1	0	0	0	0	0	0	1	0	17473	1014	35	2	395	2	WWC3	23	10058810	Splice_Site	SNP	G	TCGA-EJ-7327-01A-11D-2114-08		10058810	145211750	29	3802											
POU3F4	5456	broad.mit.edu	37	chrX	82763400	82763400	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctagtccatgcggactctgCgggcatgcagcaggggagtc	7	7	15	12	2	1	0	0	0	1	0	3	2	2	2	2	4	4	3	2	4	1	1			TCGA-EJ-7327-01A-11D-2114-08	TCGA-EJ-7327-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	496d38bb-e8f5-491c-943c-01739cc4a0e8	92b13aa2-eb12-433b-a744-c6f7d1d1e690	g.chrX:82763400C>T	ENST00000373200.2	+	1	132	c.68C>T	c.(67-69)gCg>gTg	p.A23V	RP3-326L13.2_ENST00000607095.1_RNA	NM_000307.3	NP_000298.2	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	23					sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						GCGGACTCTGCGGGCATGCAG	0.557													3	18					0	0	0.009096	0	0	T	82763400	C	T	82763400	3	4	74	1	0	0	0	0	1	0	0	0	12323	768	27	1	70	1	POU3F4	23	82763400	Missense_Mutation	SNP	C	TCGA-EJ-7327-01A-11D-2114-08	72704590	82763400	72507160	30	3803											
CASZ1	54897	broad.mit.edu	37	chr1	10719882	10719882	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctggcccgggggcgctggggGcactgggcacgctggcgagg	3	4	22	12	4	0	0	0	0	0	0	0	1	0	0	1	8	0	4	1	8	0	0			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr1:10719882G>A	ENST00000377022.3	-	6	1534	c.1217C>T	c.(1216-1218)gCc>gTc	p.A406V	CASZ1_ENST00000344008.5_Missense_Mutation_p.A406V	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	406	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GGCGCTGGGGGCACTGGGCAC	0.677													3	47					0	0	1	0	0	A	10719882	G	A	10719882	3	1	75	1	0	0	0	0	1	0	0	0	2703	1203	42	2	4130	2	CASZ1	1	10719882	Missense_Mutation	SNP	G	TCGA-EJ-7328-01A-31D-2114-08		10719882	238530739	1	3804											
PLK3	1263	broad.mit.edu	37	chr1	45270100	45270100	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaataagttcggctttgggTatcaactgtccagccgccgt	8	11	10	12	3	1	0	1	0	0	0	3	0	2	0	4	2	2	3	4	2	4	4			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr1:45270100T>C	ENST00000372201.4	+	12	1671	c.1432T>C	c.(1432-1434)Tat>Cat	p.Y478H	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	478	POLO box 1.					membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					CGGCTTTGGGTATCAACTGTC	0.572													27	97					0	0	1	0	0	C	45270100	T	C	45270100	3	2	75	1	0	0	0	0	1	0	0	0	12145	1638	57	3	1478	3	PLK3	1	45270100	Missense_Mutation	SNP	T	TCGA-EJ-7328-01A-31D-2114-08	34550218	45270100	203980521	2	3805											
HECTD3	79654	broad.mit.edu	37	chr1	45472380	45472380	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttacctggttggctgtgcgtAcaaagaagggcaggggcacg	9	8	16	8	2	0	1	0	0	0	1	0	1	0	1	1	5	3	5	1	5	4	3			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr1:45472380A>C	ENST00000372172.4	-	13	1780	c.1709T>G	c.(1708-1710)gTa>gGa	p.V570G	HECTD3_ENST00000372168.3_Missense_Mutation_p.V180G	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	570	HECT.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					GGCTGTGCGTACAAAGAAGGG	0.572													12	84					0	0	1	0	0	C	45472380	A	C	45472380	3	2	75	1	0	0	0	0	1	0	0	0	7082	391	14	5	912	5	HECTD3	1	45472380	Missense_Mutation	SNP	A	TCGA-EJ-7328-01A-31D-2114-08	202280	45472380	203778241	3	3806											
CCDC17	149483	broad.mit.edu	37	chr1	46086625	46086625	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggctggggtccagaggaaGggcccgaagtgggaggcgcc	9	3	20	9	2	0	1	0	0	0	1	1	4	1	3	3	7	0	1	3	7	3	0			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr1:46086625G>A	ENST00000421127.2	-	11	1665	c.1522C>T	c.(1522-1524)Ctt>Ttt	p.L508F	CCDC17_ENST00000343901.2_Missense_Mutation_p.L485F|CCDC17_ENST00000445048.2_Intron|CCDC17_ENST00000528266.1_Missense_Mutation_p.L517F	NM_001114938.2|NM_001190182.1	NP_001108410.2|NP_001177111.1	Q96LX7	CCD17_HUMAN	coiled-coil domain containing 17	517										kidney(1)|large_intestine(1)|lung(1)|ovary(2)	5	Acute lymphoblastic leukemia(166;0.155)					TCCAGAGGAAGGGCCCGAAGT	0.577													5	22					0	0	1	0	0	A	46086625	G	A	46086625	3	1	75	1	0	0	0	0	1	0	0	0	2812	1000	35	2	331	2	CCDC17	1	46086625	Missense_Mutation	SNP	G	TCGA-EJ-7328-01A-31D-2114-08	614245	46086625	203163996	4	3807											
LPPR4	0	broad.mit.edu	37	chr1	99767329	99767329	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctaagcttctgaaacctcTcttggtcttcacatttatca	9	16	4	12	0	6	1	2	1	4	0	7	1	6	1	1	1	2	1	1	1	3	6			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr1:99767329T>C	ENST00000370185.3	+	6	1339	c.842T>C	c.(841-843)cTc>cCc	p.L281P	LPPR4_ENST00000457765.1_Intron|LPPR4_ENST00000370184.1_Missense_Mutation_p.L123P	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		281							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		CTGAAACCTCTCTTGGTCTTC	0.363													7	72					0	0	1	0	0	C	99767329	T	C	99767329	3	2	75	1	0	0	0	0	1	0	0	0	8972	1551	54	3	864	3	LPPR4	1	99767329	Missense_Mutation	SNP	T	TCGA-EJ-7328-01A-31D-2114-08	53680704	99767329	149483292	5	3808											
PDE4DIP	9659	broad.mit.edu	37	chr1	144916719	144916719	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agataactgttccacttccaGgcctttggccctcaggagac	9	10	9	13	0	1	2	1	0	0	2	3	3	3	2	4	3	1	1	4	3	1	4			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr1:144916719G>A	ENST00000529945.1	-	9	2564	c.2125C>T	c.(2125-2127)Ctg>Ttg	p.L709L	PDE4DIP_ENST00000530740.1_Silent_p.L683L|PDE4DIP_ENST00000479408.2_Silent_p.L333L|PDE4DIP_ENST00000369359.4_Silent_p.L683L|PDE4DIP_ENST00000313431.9_Silent_p.L709L|PDE4DIP_ENST00000369349.3_Silent_p.L546L|PDE4DIP_ENST00000369351.3_Silent_p.L546L|PDE4DIP_ENST00000369354.3_Silent_p.L546L|PDE4DIP_ENST00000369356.4_Silent_p.L546L|PDE4DIP_ENST00000313382.9_Silent_p.L612L			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	546					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCCACTTCCAGGCCTTTGGCC	0.423			T	PDGFRB	MPD								5	350					0	0	1	0	0	A	144916719	G	A	144916719	2	1	75	1	0	0	0	0	0	0	0	1	11690	991	35	2		2	PDE4DIP	1	144916719	Silent	SNP	G	TCGA-EJ-7328-01A-31D-2114-08	45149390	144916719	104333902	6	3809											
GPR17	0	broad.mit.edu	37	chr2	128409282	128409282	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agggcccgccccccagcttcGaagggaaaaccaacgagagc	12	2	12	15	3	0	1	0	0	0	1	1	4	0	2	5	2	4	1	5	2	4	1	rs78078469		TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr2:128409282G>A	ENST00000544369.1	+	4	1668	c.1057G>A	c.(1057-1059)Gaa>Aaa	p.E353K	LIMS2_ENST00000409808.2_Intron|GPR17_ENST00000272644.3_Missense_Mutation_p.E353K|LIMS2_ENST00000410011.1_Intron|LIMS2_ENST00000324938.5_Intron|LIMS2_ENST00000409455.1_Intron|GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000355119.4_Intron|LIMS2_ENST00000545738.2_Intron|GPR17_ENST00000393018.3_Missense_Mutation_p.E353K	NM_001161415.1	NP_001154887.1	Q13304	GPR17_HUMAN	G protein-coupled receptor 17	353						integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		CCCCAGCTTCGAAGGGAAAAC	0.607													22	109					0	0	1	0	0	A	128409282	G	A	128409282	3	1	75	1	0	0	0	0	1	0	0	0	6707	1059	37	1	1063	1	GPR17	2	128409282	Missense_Mutation	SNP	G	TCGA-EJ-7328-01A-31D-2114-08		128409282	114790091	7	3810											
PKP4	8502	broad.mit.edu	37	chr2	159533253	159533253	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttgcctctcccttcagtcGgcagcacctcttcctcacca	5	12	5	19	1	4	0	2	0	2	0	7	0	5	0	5	1	2	2	5	1	0	3			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr2:159533253G>A	ENST00000389759.3	+	20	3242	c.3130G>A	c.(3130-3132)Ggc>Agc	p.G1044S	AC005042.4_ENST00000342892.4_RNA|PKP4_ENST00000389757.3_Intron	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	1044					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						CCCTTCAGTCGGCAGCACCTC	0.488										HNSCC(62;0.18)			7	154					0	0	1	0	0	A	159533253	G	A	159533253	3	1	75	1	0	0	0	0	1	0	0	0	12035	1116	39	1	3204	1	PKP4	2	159533253	Missense_Mutation	SNP	G	TCGA-EJ-7328-01A-31D-2114-08	31123971	159533253	83666120	8	3811											
LRP2	4036	broad.mit.edu	37	chr2	170053462	170053462	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcatcaaaacaatctgttTcttgatcacaataccaatgt	15	12	5	9	0	4	1	2	1	2	0	4	1	4	1	1	1	2	2	1	1	6	3			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr2:170053462T>A	ENST00000263816.3	-	46	8942	c.8657A>T	c.(8656-8658)gAa>gTa	p.E2886V		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2886	LDL-receptor class A 20.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ACAATCTGTTTCTTGATCACA	0.458													8	81					0	0	1	0	0	A	170053462	T	A	170053462	3	1	75	1	0	0	0	0	1	0	0	0	9001	1783	62	5	5446	5	LRP2	2	170053462	Missense_Mutation	SNP	T	TCGA-EJ-7328-01A-31D-2114-08	10520209	170053462	73145911	9	3812											
ATP2B2	491	broad.mit.edu	37	chr3	10430060	10430060	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagcagtcaccaacatccGtcctgagccctccatcacgt	10	7	6	18	2	2	1	2	1	0	0	5	1	5	1	5	0	3	1	5	0	1	0			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr3:10430060G>A	ENST00000397077.1	-	8	1383	c.808C>T	c.(808-810)Cgg>Tgg	p.R270W	ATP2B2_ENST00000383800.4_Missense_Mutation_p.R270W|ATP2B2_ENST00000360273.2_Missense_Mutation_p.R270W|ATP2B2_ENST00000352432.4_Missense_Mutation_p.R270W|ATP2B2_ENST00000343816.4_Missense_Mutation_p.R270W			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	270					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						ACCAACATCCGTCCTGAGCCC	0.517													5	177					0	0	1	0	0	A	10430060	G	A	10430060	3	1	75	1	0	0	0	0	1	0	0	0	1139	1144	40	1	2995	1	ATP2B2	3	10430060	Missense_Mutation	SNP	G	TCGA-EJ-7328-01A-31D-2114-08		10430060	187592370	10	3813											
C3orf14	57415	broad.mit.edu	37	chr3	62317034	62317034	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaaaagtcactacagaccaGgattcacccacttccacggc	14	6	7	14	1	2	2	2	0	0	2	3	3	3	3	3	2	1	0	3	2	3	3			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr3:62317034G>A	ENST00000494481.1	+	5	526	c.212G>A	c.(211-213)aGg>aAg	p.R71K	PTPRG-AS1_ENST00000490916.1_RNA|C3orf14_ENST00000462069.1_Missense_Mutation_p.R71K|C3orf14_ENST00000232519.5_Missense_Mutation_p.R71K|C3orf14_ENST00000542214.1_Missense_Mutation_p.R71K|PTPRG-AS1_ENST00000495542.1_RNA			Q9HBI5	CC014_HUMAN	chromosome 3 open reading frame 14	71										central_nervous_system(1)|large_intestine(1)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(55;0.00023)|KIRC - Kidney renal clear cell carcinoma(15;0.00877)|Kidney(15;0.0101)		CTACAGACCAGGATTCACCCA	0.408													19	87					0	0	1	0	0	A	62317034	G	A	62317034	3	1	75	1	0	0	0	0	1	0	0	0	2222	1000	35	2	222	2	C3orf14	3	62317034	Missense_Mutation	SNP	G	TCGA-EJ-7328-01A-31D-2114-08	51886974	62317034	135705396	11	3814											
PLXND1	23129	broad.mit.edu	37	chr3	129324627	129324628	+	Frame_Shift_Ins	INS	-	-	T																															cccggcggcgggtcggacggINSgtgcaggaaggcgctcacga																										TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr3:129324627_129324628insT	ENST00000393239.1	-	1	1033_1034	c.855_856insA	c.(853-858)cacgtcfs	p.HV285fs	PLXND1_ENST00000324093.4_Frame_Shift_Ins_p.HV285fs			Q9Y4D7	PLXD1_HUMAN	plexin D1	285	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GGGTCGGACGGGTGCAGGAAGG	0.673													6	1	---	---	---	---						T	129324628	-	T	129324627	7	5	75	1	0	1	1	0	0	0	0	0	12175	1232	43	0	5065	0	PLXND1	3	129324627	Frame_Shift_Ins	INS	-	TCGA-EJ-7328-01A-31D-2114-08	67007593	129324627	68697803	12	3815											
LPHN3	23284	broad.mit.edu	37	chr4	62679557	62679557	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcatggacaagtttcatacaTttctccgccaattcaccttg	10	14	5	12	1	4	0	3	0	1	0	5	1	4	1	3	1	1	1	3	1	3	5			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr4:62679557T>A	ENST00000512091.1	+	8	1973	c.1226T>A	c.(1225-1227)aTt>aAt	p.I409N	LPHN3_ENST00000506700.1_Missense_Mutation_p.I409N|LPHN3_ENST00000514996.1_Missense_Mutation_p.I409N|LPHN3_ENST00000545650.1_Missense_Mutation_p.I409N|LPHN3_ENST00000514157.1_Missense_Mutation_p.I409N|LPHN3_ENST00000504896.1_Missense_Mutation_p.I409N|LPHN3_ENST00000509896.1_Missense_Mutation_p.I477N|LPHN3_ENST00000508946.1_Missense_Mutation_p.I409N|LPHN3_ENST00000506746.1_Missense_Mutation_p.I477N|LPHN3_ENST00000507164.1_Missense_Mutation_p.I477N|LPHN3_ENST00000508693.1_Missense_Mutation_p.I477N|LPHN3_ENST00000507625.1_Missense_Mutation_p.I477N|LPHN3_ENST00000514591.1_Missense_Mutation_p.I409N|LPHN3_ENST00000506720.1_Missense_Mutation_p.I477N|LPHN3_ENST00000511324.1_Missense_Mutation_p.I477N			Q9HAR2	LPHN3_HUMAN	latrophilin 3	409					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						gtttcatacatttctccgcca	0.363													10	39					0	0	1	0	0	A	62679557	T	A	62679557	3	1	75	1	0	0	0	0	1	0	0	0	8962	1493	52	5	1248	5	LPHN3	4	62679557	Missense_Mutation	SNP	T	TCGA-EJ-7328-01A-31D-2114-08		62679557	128474719	13	3816											
FAT2	2196	broad.mit.edu	37	chr5	150911164	150911164	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcacctgtgcgagcatccagGcggaacctgccttgctcgtt	6	10	11	14	3	1	0	1	0	0	0	3	2	2	1	4	2	5	3	4	2	1	2			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr5:150911164G>A	ENST00000261800.5	-	13	9807	c.9795C>T	c.(9793-9795)cgC>cgT	p.R3265R		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3265	Cadherin 29.				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)			GAGCATCCAGGCGGAACCTGC	0.652													5	40					0	0	1	0	0	A	150911164	G	A	150911164	2	1	75	1	0	0	0	0	0	0	0	1	5723	1190	42	2		2	FAT2	5	150911164	Silent	SNP	G	TCGA-EJ-7328-01A-31D-2114-08		150911164	30004096	14	3817											
NEU1	4758	broad.mit.edu	37	chr6	31828260	31828260	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attttcctgcttgggctgacCgtaggggatgccgctgaccc	5	11	13	12	2	0	2	0	2	0	0	1	3	1	3	4	3	2	4	4	3	1	4	rs145177628		TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr6:31828260C>T	ENST00000375631.4	-	4	883	c.754G>A	c.(754-756)Ggt>Agt	p.G252S		NM_000434.3	NP_000425.1	Q99519	NEUR1_HUMAN	sialidase 1 (lysosomal sialidase)	252						cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane	exo-alpha-sialidase activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10					Oseltamivir(DB00198)|Zanamivir(DB00558)	TTGGGCTGACCGTAGGGGATG	0.577													19	101					0	0	1	0	0	T	31828260	C	T	31828260	3	4	75	1	0	0	0	0	1	0	0	0	10388	652	23	1	505	1	NEU1	6	31828260	Missense_Mutation	SNP	C	TCGA-EJ-7328-01A-31D-2114-08		31828260	139286807	15	3818											
AKAP9	10142	broad.mit.edu	37	chr7	91691589	91691589	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttaattttgtattataggCgtcattgatggctatgcaga	10	17	10	4	1	1	2	1	1	0	1	1	2	1	2	0	2	1	4	0	2	5	8			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr7:91691589C>T	ENST00000359028.2	+	25	6027	c.5800_splice	c.e25-1	p.G1934_splice	AKAP9_ENST00000356239.3_Splice_Site_p.G1922_splice|AKAP9_ENST00000358100.2_Splice_Site_p.G1934_splice|AKAP9_ENST00000491695.1_3'UTR			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1934	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GTATTATAGGCGTCATTGATG	0.299			T	BRAF	papillary thyroid								10	40					0	0	1	0	0	T	91691589	C	T	91691589	5	4	75	1	0	0	0	0	0	0	1	0	456	782	27	1	5860	1	AKAP9	7	91691589	Splice_Site	SNP	C	TCGA-EJ-7328-01A-31D-2114-08		91691589	67447074	16	3819											
LAMB1	3912	broad.mit.edu	37	chr7	107569953	107569953	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgagaaaggctttcaactCgttcacgtatatcttctgtc	9	15	7	10	2	4	1	2	1	2	1	6	2	4	1	0	1	1	3	0	1	4	6			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr7:107569953C>A	ENST00000393561.1	-	28	4905	c.4721G>T	c.(4720-4722)cGa>cTa	p.R1574L	LAMB1_ENST00000222399.6_Missense_Mutation_p.R1550L|LAMB1_ENST00000474380.1_5'UTR			P07942	LAMB1_HUMAN	laminin, beta 1	1550	Domain I.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCTTTCAACTCGTTCACGTAT	0.418													3	79					1	1	1	1	0	A	107569953	C	A	107569953	3	1	75	1	0	0	0	0	1	0	0	0	8649	884	31	4	731	4	LAMB1	7	107569953	Missense_Mutation	SNP	C	TCGA-EJ-7328-01A-31D-2114-08	15878364	107569953	51568710	17	3820											
MNX1	3110	broad.mit.edu	37	chr7	156802527	156802529	+	In_Frame_Del	DEL	GCC	GCC	-																															ggtgctggcccgccagcgcaGccgccgccgccgccgcggag																										TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr7:156802527_156802529delGCC	ENST00000252971.6	-	1	816_818	c.516_518delGGC	c.(514-519)gct>gc	p.AA172del		NM_005515.3	NP_005506.3	P50219	MNX1_HUMAN	motor neuron and pancreas homeobox 1	172	Poly-Ala.				humoral immune response|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGCCAGCGCAGCCGCCGCCGCCG	0.803													3	4	---	---	---	---						-	156802529	GCC	-	156802527	7	5	75	1	0	1	0	1	0	0	0	0	9728	971	34	0	758	0	MNX1	7	156802527	In_Frame_Del	DEL	GCC	TCGA-EJ-7328-01A-31D-2114-08	49232574	156802527	2336136	18	3821											
ASAH1	427	broad.mit.edu	37	chr8	17916924	17916924	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagaagggatgtttccaacGgtcataatttgtttgtacca	12	13	10	6	1	1	1	1	0	0	1	2	3	2	2	2	2	2	3	2	2	5	5	rs147830297	by1000genomes	TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr8:17916924G>T	ENST00000262097.6	-	12	1278	c.967C>A	c.(967-969)Cgt>Agt	p.R323S	ASAH1_ENST00000417108.2_Missense_Mutation_p.R233S|ASAH1_ENST00000520781.1_Missense_Mutation_p.R298S|ASAH1_ENST00000381733.4_Missense_Mutation_p.R339S|ASAH1_ENST00000314146.10_Missense_Mutation_p.R317S	NM_177924.3	NP_808592.2	Q13510	ASAH1_HUMAN	N-acylsphingosine amidohydrolase (acid ceramidase) 1	323					ceramide metabolic process	lysosome	ceramidase activity			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9				Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)		TGTTTCCAACGGTCATAATTT	0.448													3	62					1	1	1	1	0	T	17916924	G	T	17916924	3	4	75	1	0	0	0	0	1	0	0	0	1005	1116	39	4	232	4	ASAH1	8	17916924	Missense_Mutation	SNP	G	TCGA-EJ-7328-01A-31D-2114-08		17916924	128447098	19	3822											
JPH1	56704	broad.mit.edu	37	chr8	75233375	75233375	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgggccaggtgtagcctcCgaccacctcgaagccgtgcg	6	6	14	15	4	0	0	0	0	0	0	2	2	1	0	6	2	3	2	6	2	2	1			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr8:75233375C>A	ENST00000342232.4	-	1	188	c.148G>T	c.(148-150)Gga>Tga	p.G50*	GDAP1_ENST00000521096.1_3'UTR	NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	50	Gly-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			GTGTAGCCTCCGACCACCTCG	0.701													5	37					0.184627	0.191221	1	1	0	A	75233375	C	A	75233375	4	1	75	1	0	0	0	0	0	1	0	0	8004	661	23	4	1857	4	JPH1	8	75233375	Nonsense_Mutation	SNP	C	TCGA-EJ-7328-01A-31D-2114-08	57316451	75233375	71130647	20	3823											
GLDC	2731	broad.mit.edu	37	chr9	6540103	6540103	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcctcaatatttgcagacttTttgaagggtctcgtgtccaa	9	14	9	9	1	2	2	1	1	1	1	4	2	3	2	2	1	1	1	2	1	4	4			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr9:6540103T>G	ENST00000321612.6	-	22	2763	c.2613A>C	c.(2611-2613)aaA>aaC	p.K871N		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	871					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	TTGCAGACTTTTTGAAGGGTC	0.453													26	93					0	0	1	0	0	G	6540103	T	G	6540103	3	3	75	1	0	0	0	0	1	0	0	0	6475	1838	64	5	465	5	GLDC	9	6540103	Missense_Mutation	SNP	T	TCGA-EJ-7328-01A-31D-2114-08		6540103	134673328	21	3824											
HNRNPF	3185	broad.mit.edu	37	chr10	43882502	43882502	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcactgtgaactcactgtcGccgtatctgtggtcatacat	8	13	9	11	2	3	1	2	1	1	0	4	1	3	1	1	1	3	2	1	1	3	2			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr10:43882502G>A	ENST00000443950.2	-	3	1317	c.831C>T	c.(829-831)ggC>ggT	p.G277G	HNRNPF_ENST00000337970.3_Silent_p.G277G|HNRNPF_ENST00000544000.1_Silent_p.G277G|HNRNPF_ENST00000356053.3_Silent_p.G277G|HNRNPF_ENST00000357065.4_Silent_p.G277G	NM_001098208.1	NP_001091678.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	277					regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						ACTCACTGTCGCCGTATCTGT	0.552													9	26					0	0	1	0	0	A	43882502	G	A	43882502	2	1	75	1	0	0	0	0	0	0	0	1	7306	1074	38	1		1	HNRNPF	10	43882502	Silent	SNP	G	TCGA-EJ-7328-01A-31D-2114-08		43882502	91652245	22	3825											
ZNF485	220992	broad.mit.edu	37	chr10	44112021	44112021	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatcccttttaaatcaccAtaaggttcatgcaggcaaac	13	12	5	11	0	3	0	3	0	0	0	4	0	4	0	2	2	2	3	2	2	4	5			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr10:44112021A>G	ENST00000361807.3	+	5	724	c.530A>G	c.(529-531)cAt>cGt	p.H177R	ZNF485_ENST00000374437.2_Missense_Mutation_p.H86R|ZNF485_ENST00000374435.3_Missense_Mutation_p.H177R	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	177					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						TTAAATCACCATAAGGTTCAT	0.393													18	84					0	0	1	0	0	G	44112021	A	G	44112021	3	3	75	1	0	0	0	0	1	0	0	0	17995	217	8	3	544	3	ZNF485	10	44112021	Missense_Mutation	SNP	A	TCGA-EJ-7328-01A-31D-2114-08	229519	44112021	91422726	23	3826											
HKDC1	80201	broad.mit.edu	37	chr10	71008401	71008401	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagatgcgggctgagctggAgtatgggctgaagaagaaga	13	6	17	5	1	0	6	0	2	0	4	0	7	0	7	0	3	2	4	0	3	5	1			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr10:71008401A>G	ENST00000354624.5	+	10	1620	c.1487A>G	c.(1486-1488)gAg>gGg	p.E496G	HKDC1_ENST00000488706.1_3'UTR|HKDC1_ENST00000395086.2_Missense_Mutation_p.E496G	NM_025130.3	NP_079406.3	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	496					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GCTGAGCTGGAGTATGGGCTG	0.657													4	37					0	0	1	0	0	G	71008401	A	G	71008401	3	3	75	1	0	0	0	0	1	0	0	0	7234	304	11	3	1525	3	HKDC1	10	71008401	Missense_Mutation	SNP	A	TCGA-EJ-7328-01A-31D-2114-08	26896380	71008401	64526346	24	3827											
P4HA1	5033	broad.mit.edu	37	chr10	74769597	74769597	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caactagcactggacaggctGcatgccgtgtactataatct	11	10	9	11	1	1	0	0	0	1	0	1	1	1	1	1	2	5	4	1	2	5	4			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr10:74769597G>A	ENST00000412021.2	-	15	1835	c.1502C>T	c.(1501-1503)gCa>gTa	p.A501V	P4HA1_ENST00000307116.2_Missense_Mutation_p.A501V|P4HA1_ENST00000263556.3_Missense_Mutation_p.A501V|P4HA1_ENST00000373008.2_Missense_Mutation_p.A501V|P4HA1_ENST00000440381.1_Missense_Mutation_p.A483V|P4HA1_ENST00000394890.2_Missense_Mutation_p.A501V	NM_001142595.1	NP_001136067.1	P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	501	Fe2OG dioxygenase.					endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TGGACAGGCTGCATGCCGTGT	0.373													3	55					0	0	1	0	0	A	74769597	G	A	74769597	3	1	75	1	0	0	0	0	1	0	0	0	11403	1319	46	2	110	2	P4HA1	10	74769597	Missense_Mutation	SNP	G	TCGA-EJ-7328-01A-31D-2114-08	3761196	74769597	60765150	25	3828											
GRID1	2894	broad.mit.edu	37	chr10	87407079	87407079	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gggttggtgcccttggctcgGaagtactcatatacagcaga	9	10	13	9	1	1	1	1	0	0	1	2	2	1	2	1	4	4	4	1	4	4	5			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr10:87407079G>A	ENST00000327946.7	-	13	2158	c.2073C>T	c.(2071-2073)ttC>ttT	p.F691F	RP11-93H12.4_ENST00000474115.2_RNA|GRID1_ENST00000536331.1_Silent_p.F262F	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	691						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	CCTTGGCTCGGAAGTACTCAT	0.552										Multiple Myeloma(13;0.14)			8	331					0	0	1	0	0	A	87407079	G	A	87407079	2	1	75	1	0	0	0	0	0	0	0	1	6812	1165	41	2		2	GRID1	10	87407079	Silent	SNP	G	TCGA-EJ-7328-01A-31D-2114-08	12637482	87407079	48127668	26	3829											
IFIT5	24138	broad.mit.edu	37	chr10	91177946	91177946	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atatttcatttcaaagcagcCatggaacgagactctatgtt	13	13	7	8	1	3	1	2	0	1	1	3	3	3	2	1	1	3	2	1	1	4	5			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr10:91177946C>T	ENST00000371795.4	+	2	1203	c.990C>T	c.(988-990)gcC>gcT	p.A330A	IFIT5_ENST00000416601.1_Silent_p.A282A	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN	interferon-induced protein with tetratricopeptide repeats 5	330							binding			endometrium(1)|large_intestine(4)|lung(4)	9						TCAAAGCAGCCATGGAACGAG	0.433													31	159					0	0	1	0	0	T	91177946	C	T	91177946	2	4	75	1	0	0	0	0	0	0	0	1	7569	581	21	2		2	IFIT5	10	91177946	Silent	SNP	C	TCGA-EJ-7328-01A-31D-2114-08	3770867	91177946	44356801	27	3830											
PITX3	5309	broad.mit.edu	37	chr10	103990274	103990274	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctacgggcggggccgctcaTacgggcctttccacggcgta	5	8	14	14	6	2	0	1	0	1	0	3	0	3	0	3	5	2	2	3	5	3	4			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr10:103990274T>C	ENST00000370002.3	-	4	1059	c.906A>G	c.(904-906)gtA>gtG	p.V302V	PITX3_ENST00000539804.1_Silent_p.V302V	NM_005029.3	NP_005020.1	O75364	PITX3_HUMAN	paired-like homeodomain 3	302					dopaminergic neuron differentiation|lens morphogenesis in camera-type eye|midbrain development|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(2)	5		Colorectal(252;0.00957)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GGGCCGCTCATACGGGCCTTT	0.667													3	21					0	0	1	0	0	C	103990274	T	C	103990274	2	2	75	1	0	0	0	0	0	0	0	1	12004	1393	49	3		3	PITX3	10	103990274	Silent	SNP	T	TCGA-EJ-7328-01A-31D-2114-08	12812328	103990274	31544473	28	3831											
TRIM68	55128	broad.mit.edu	37	chr11	4626487	4626487	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggatgtagccttagcagaCggactttttctacaacattg	10	13	9	9	1	1	1	0	0	1	1	1	3	1	3	1	2	4	2	1	2	4	6			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr11:4626487C>T	ENST00000300747.5	-	2	537	c.248G>A	c.(247-249)cGt>cAt	p.R83H		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	83					protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding	p.R83H(1)		breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		CCTTAGCAGACGGACTTTTTC	0.532													31	151					0	0	1	0	0	T	4626487	C	T	4626487	3	4	75	1	0	0	0	0	1	0	0	0	16602	536	19	1	1233	1	TRIM68	11	4626487	Missense_Mutation	SNP	C	TCGA-EJ-7328-01A-31D-2114-08		4626487	130380029	29	3832											
TSG101	7251	broad.mit.edu	37	chr11	18505466	18505466	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttccagtttctggtgacccTttttcaggtcttcttctgtt	3	20	7	11	0	5	1	1	1	4	0	6	1	6	1	2	2	0	2	2	2	0	7			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr11:18505466T>C	ENST00000536719.1	-	8	928	c.794A>G	c.(793-795)aAg>aGg	p.K265R	TSG101_ENST00000357193.3_Missense_Mutation_p.K160R|TSG101_ENST00000251968.3_Missense_Mutation_p.K265R			Q99816	TS101_HUMAN	tumor susceptibility 101	265					cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						CTGGTGACCCTTTTTCAGGTC	0.438													4	273					0	0	1	0	0	C	18505466	T	C	18505466	3	2	75	1	0	0	0	0	1	0	0	0	16677	1609	56	3	390	3	TSG101	11	18505466	Missense_Mutation	SNP	T	TCGA-EJ-7328-01A-31D-2114-08	13878979	18505466	116501050	30	3833											
AGBL2	79841	broad.mit.edu	37	chr11	47712125	47712125	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatggaaactgaatggtccaCgtgagacagtagaagggctg	13	8	14	6	1	0	3	0	2	0	2	1	5	1	4	1	3	1	2	1	3	5	2			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr11:47712125C>T	ENST00000525123.1	-	10	1419	c.1134G>A	c.(1132-1134)acG>acA	p.T378T	AGBL2_ENST00000357610.3_Silent_p.T378T|AGBL2_ENST00000298861.4_Silent_p.T378T|AGBL2_ENST00000528244.1_Silent_p.T340T|AGBL2_ENST00000529712.1_5'UTR	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	378					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding	p.T378T(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						GAATGGTCCACGTGAGACAGT	0.463													17	105					0	0	1	0	0	T	47712125	C	T	47712125	2	4	75	1	0	0	0	0	0	0	0	1	373	523	19	1		1	AGBL2	11	47712125	Silent	SNP	C	TCGA-EJ-7328-01A-31D-2114-08	29206659	47712125	87294391	31	3834											
OR5F1	338674	broad.mit.edu	37	chr11	55761664	55761664	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaccctgcagcaaaagccccGgctgccatttttaggtagac	11	8	9	13	1	0	1	0	0	0	1	0	1	0	1	4	2	5	4	4	2	5	4			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr11:55761664G>A	ENST00000278409.1	-	1	437	c.438C>T	c.(436-438)gcC>gcT	p.A146A		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	146					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					CAAAAGCCCCGGCTGCCATTT	0.502													4	34					0	0	1	0	0	A	55761664	G	A	55761664	2	1	75	1	0	0	0	0	0	0	0	1	11205	1103	39	1		1	OR5F1	11	55761664	Silent	SNP	G	TCGA-EJ-7328-01A-31D-2114-08	8049539	55761664	79244852	32	3835											
CACNA2D4	93589	broad.mit.edu	37	chr12	2022195	2022195	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcctggagtacctggacCgcctcgactttcctccgcag	6	8	11	16	3	0	0	0	0	0	0	3	3	2	2	6	3	1	2	6	3	1	2			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr12:2022195C>T	ENST00000382722.5	-	3	782	c.420G>A	c.(418-420)gcG>gcA	p.A140A	CACNA2D4_ENST00000587995.1_Silent_p.A140A|CACNA2D4_ENST00000588077.1_Silent_p.A76A|CACNA2D4_ENST00000586184.1_Silent_p.A140A|CACNA2D4_ENST00000585708.1_Silent_p.A76A|CACNA2D4_ENST00000585732.1_Silent_p.A140A	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	140						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GTACCTGGACCGCCTCGACTT	0.597													8	30					0	0	1	0	0	T	2022195	C	T	2022195	2	4	75	1	0	0	0	0	0	0	0	1	2569	639	23	1		1	CACNA2D4	12	2022195	Silent	SNP	C	TCGA-EJ-7328-01A-31D-2114-08		2022195	131829700	33	3836											
SKA3	221150	broad.mit.edu	37	chr13	21729267	21729267	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcattttgttcagtttctgtGttggatagatccactggaat	8	18	9	6	0	3	1	2	0	1	1	4	3	4	3	1	2	0	3	1	2	2	6	rs11147977	by1000genomes	TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr13:21729267G>A	ENST00000400018.3	-	8	1211	c.1142C>T	c.(1141-1143)aCa>aTa	p.T381I	SKA3_ENST00000314759.5_3'UTR	NM_001166017.1	NP_001159489.1	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3	0					cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						CAGTTTCTGTGTTGGATAGAT	0.363													3	33					0	0	1	0	0	A	21729267	G	A	21729267	3	1	75	1	0	0	0	0	1	0	0	0	14409	1377	48	2	28	2	SKA3	13	21729267	Missense_Mutation	SNP	G	TCGA-EJ-7328-01A-31D-2114-08		21729267	93440611	34	3837											
BRCA2	675	broad.mit.edu	37	chr13	32972737	32972738	+	Frame_Shift_Ins	INS	-	-	T																															aacaggagaaaaacaatttaINStatctgtcagtgaatccact																								rs55881945		TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr13:32972737_32972738insT	ENST00000544455.1	+	27	10314_10315	c.10087_10088insT	c.(10087-10089)atcfs	p.I3363fs	BRCA2_ENST00000380152.3_Frame_Shift_Ins_p.I3363fs	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	3363					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAAACAATTTATATCTGTCAGT	0.381			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			14	63	---	---	---	---						T	32972738	-	T	32972737	7	5	75	1	0	1	1	0	0	0	0	0	1501	449	16	0	10189	0	BRCA2	13	32972737	Frame_Shift_Ins	INS	-	TCGA-EJ-7328-01A-31D-2114-08	11243470	32972737	82197141	35	3838											
RB1	5925	broad.mit.edu	37	chr13	48941653	48941653	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaaatctttctaaacgataCgaagaaatttatcttaaaaa	20	12	4	5	2	3	1	0	0	3	1	3	4	3	1	0	0	2	0	0	0	11	6			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr13:48941653C>T	ENST00000267163.4	+	10	1101	c.963C>T	c.(961-963)taC>taT	p.Y321Y		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	321					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(7)|p.Y321*(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTAAACGATACGAAGAAATTT	0.318		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			15	60					0	0	1	0	0	T	48941653	C	T	48941653	2	4	75	1	0	0	0	0	0	0	0	1	13150	547	19	1		1	RB1	13	48941653	Silent	SNP	C	TCGA-EJ-7328-01A-31D-2114-08	15968916	48941653	66228225	36	3839											
JPH4	84502	broad.mit.edu	37	chr14	24040525	24040525	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggctccggcaggcagggggtCgccagggttggcgggaggag	5	4	23	9	3	0	0	0	0	0	0	2	2	1	2	2	9	0	4	2	9	0	1			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr14:24040525C>T	ENST00000397118.3	-	6	2317	c.1415G>A	c.(1414-1416)cGa>cAa	p.R472Q	JPH4_ENST00000356300.4_Missense_Mutation_p.R472Q|JPH4_ENST00000544177.1_Missense_Mutation_p.R137Q	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	472					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		GGCAGGGGGTCGCCAGGGTTG	0.682													7	38					0	0	1	0	0	T	24040525	C	T	24040525	3	4	75	1	0	0	0	0	1	0	0	0	8007	884	31	1	479	1	JPH4	14	24040525	Missense_Mutation	SNP	C	TCGA-EJ-7328-01A-31D-2114-08		24040525	83309015	37	3840											
FOXN3	1112	broad.mit.edu	37	chr14	89878584	89878584	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctgacactcctgaggacCgactccccaaagctcttcag	9	7	10	15	1	2	2	1	2	1	0	4	4	4	3	4	2	1	2	4	2	1	1			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr14:89878584C>T	ENST00000345097.4	-	2	353	c.237G>A	c.(235-237)tcG>tcA	p.S79S	FOXN3_ENST00000557258.1_Silent_p.S79S|FOXN3_ENST00000261302.5_Silent_p.S79S|FOXN3_ENST00000555353.1_Silent_p.S79S	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	79					DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCCTGAGGACCGACTCCCCAA	0.587													13	62					0	0	1	0	0	T	89878584	C	T	89878584	2	4	75	1	0	0	0	0	0	0	0	1	6055	639	23	1		1	FOXN3	14	89878584	Silent	SNP	C	TCGA-EJ-7328-01A-31D-2114-08	65838059	89878584	17470956	38	3841											
MC2R	0	broad.mit.edu	37	chr18	13885200	13885200	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagaggacaaacagggagtcGatgatgtcatcggctgtggt	11	8	16	6	2	1	2	1	1	0	1	3	6	1	4	0	4	1	1	0	4	1	0	rs147706299	byFrequency	TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr18:13885200G>A	ENST00000327606.3	-	2	498	c.318C>T	c.(316-318)atC>atT	p.I106I		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	106					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	ACAGGGAGTCGATGATGTCAT	0.498													19	49					0	0	1	0	0	A	13885200	G	A	13885200	2	1	75	1	0	0	0	0	0	0	0	1	9414	1048	37	1		1	MC2R	18	13885200	Silent	SNP	G	TCGA-EJ-7328-01A-31D-2114-08		13885200	64192048	39	3842											
MUC16	94025	broad.mit.edu	37	chr19	9082695	9082695	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtgggggaaaggaagctTgtttctttctcagtggatag	9	12	15	5	0	2	0	1	0	2	0	3	3	2	3	0	4	1	3	0	4	3	4			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr19:9082695T>A	ENST00000397910.4	-	1	9323	c.9120A>T	c.(9118-9120)acA>acT	p.T3040T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3041	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAAGGAAGCTTGTTTCTTTCT	0.483													8	72					0	0	1	0	0	A	9082695	T	A	9082695	2	1	75	1	0	0	0	0	0	0	0	1	10021	1799	63	5		5	MUC16	19	9082695	Silent	SNP	T	TCGA-EJ-7328-01A-31D-2114-08		9082695	50046288	40	3843											
ZNF709	163051	broad.mit.edu	37	chr19	12575498	12575498	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggtttctctccagtgtgaGttctttcatgcattcgaaag	7	15	11	8	1	3	1	1	1	2	0	6	2	4	1	1	2	1	3	1	2	1	4			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	9326de46-0981-4458-b17d-d52a96a120d5	g.chr19:12575498G>A	ENST00000397732.3	-	4	1409	c.1238C>T	c.(1237-1239)aCt>aTt	p.T413I	ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I|CTD-3105H18.18_ENST00000598753.1_Intron	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T413I(2)		large_intestine(3)|upper_aerodigestive_tract(3)	6						TCCAGTGTGAGTTCTTTCATG	0.418													4	98					0	0	1	0	0	A	12575498	G	A	12575498	3	1	75	1	0	0	0	0	1	0	0	0	18169	1029	36	2	691	2	ZNF709	19	12575498	Missense_Mutation	SNP	G	TCGA-EJ-7328-01A-31D-2114-08	3492803	12575498	46553485	41	3844											
TRMT1	55621	broad.mit.edu	37	chr19	13216326	13216326	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgggcacgaggccggggacCccagttggcctccgggttag	5	5	17	14	4	0	0	0	0	0	0	1	2	1	1	6	6	0	3	6	6	1	2			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr19:13216326C>T	ENST00000592062.1	-	16	2248	c.1678G>A	c.(1678-1680)Ggt>Agt	p.G560S	TRMT1_ENST00000357720.4_Missense_Mutation_p.G560S|TRMT1_ENST00000437766.1_Missense_Mutation_p.G560S|TRMT1_ENST00000221504.8_Missense_Mutation_p.G531S			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	560							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		GGCCGGGGACCCCAGTTGGCC	0.657													21	143					0	0	1	0	0	T	13216326	C	T	13216326	3	4	75	1	0	0	0	0	1	0	0	0	16622	623	22	2	313	2	TRMT1	19	13216326	Missense_Mutation	SNP	C	TCGA-EJ-7328-01A-31D-2114-08	640828	13216326	45912657	42	3845											
SYDE1	85360	broad.mit.edu	37	chr19	15220560	15220560	+	Frame_Shift_Del	DEL	C	C	-																															caaagcctcccgcaccaagtCcccgggccccgccaggcgcc																										TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr19:15220560delC	ENST00000342784.2	+	3	507	c.476delC	c.(475-477)tcfs	p.S159fs	SYDE1_ENST00000600440.1_Frame_Shift_Del_p.S92fs|SYDE1_ENST00000600252.1_5'UTR	NM_033025.4	NP_149014.3	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	159	Pro-rich.				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						CGCACCAAGTCCCCGGGCCCC	0.706													2	4	---	---	---	---						-	15220560	C	-	15220560	7	5	75	1	0	1	0	1	0	0	0	0	15492	855	30	0	486	0	SYDE1	19	15220560	Frame_Shift_Del	DEL	C	TCGA-EJ-7328-01A-31D-2114-08	2004234	15220560	43908423	43	3846											
ZNF681	148213	broad.mit.edu	37	chr19	23927307	23927307	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctggtaaggtgtgaggactGgttaaaggctttgccacatt	9	13	13	6	0	1	1	0	1	1	0	1	2	1	2	1	5	1	3	1	5	3	4			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr19:23927307G>T	ENST00000402377.3	-	4	1186	c.1045C>A	c.(1045-1047)Cag>Aag	p.Q349K	ZNF681_ENST00000395385.3_Missense_Mutation_p.Q280K	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	349					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TGTGAGGACTGGTTAAAGGCT	0.433													3	97					0.00909568	0.00959181	1	1	0	T	23927307	G	T	23927307	3	4	75	1	0	0	0	0	1	0	0	0	18144	1357	47	4	896	4	ZNF681	19	23927307	Missense_Mutation	SNP	G	TCGA-EJ-7328-01A-31D-2114-08	8706747	23927307	35201676	44	3847											
ACPT	93650	broad.mit.edu	37	chr19	51297838	51297838	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaatcccgccaaagatggagGgtgagaatggtttggtgccc	10	8	15	8	1	0	2	0	1	0	2	1	5	1	3	3	4	1	1	3	4	3	1			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr19:51297838G>A	ENST00000270593.1	+	9	986	c.986_splice	c.e9+1	p.G329_splice	ACPT_ENST00000270594.3_Splice_Site_p.G236_splice	NM_033068.2	NP_149059.1	Q9BZG2	PPAT_HUMAN	acid phosphatase, testicular	329						integral to membrane	acid phosphatase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		AAAGATGGAGGGTGAGAATGG	0.612													4	35					0	0	1	0	0	A	51297838	G	A	51297838	5	1	75	1	0	0	0	0	0	0	1	0	168	1246	43	2	1020	2	ACPT	19	51297838	Splice_Site	SNP	G	TCGA-EJ-7328-01A-31D-2114-08	27370531	51297838	7831145	45	3848											
LILRB5	0	broad.mit.edu	37	chr19	54756362	54756362	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaattacctcttctgcaggcCctggtccttgggctctggcc	4	12	11	14	0	3	0	0	0	3	0	4	1	4	0	4	4	2	2	4	4	2	3			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr19:54756362C>T	ENST00000450632.1	-	10	1575	c.1498G>A	c.(1498-1500)Ggc>Agc	p.G500S	LILRB5_ENST00000345866.6_Missense_Mutation_p.G409S|LILRB5_ENST00000316219.5_Missense_Mutation_p.G508S|LILRB5_ENST00000449561.2_Missense_Mutation_p.G509S			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	508					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TTCTGCAGGCCCTGGTCCTTG	0.627													27	89					0	0	1	0	0	T	54756362	C	T	54756362	3	4	75	1	0	0	0	0	1	0	0	0	8834	623	22	2	266	2	LILRB5	19	54756362	Missense_Mutation	SNP	C	TCGA-EJ-7328-01A-31D-2114-08	3458524	54756362	4372621	46	3849											
P2RX6	9127	broad.mit.edu	37	chr22	21380547	21380547	+	Frame_Shift_Del	DEL	T	T	-																															cctgcctctcccaggtcaccTttttctgtgacctgctactg																										TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chr22:21380547delT	ENST00000413302.2	+	11	1205	c.1057delT	c.(1057-1059)ttfs	p.F354fs	P2RX6_ENST00000336296.2_Frame_Shift_Del_p.F344fs|P2RX6_ENST00000443995.3_Frame_Shift_Del_p.F301fs|P2RX6_ENST00000402329.3_3'UTR|P2RX6_ENST00000401443.1_Frame_Shift_Del_p.F328fs			O15547	P2RX6_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 6	354					muscle contraction|protein homooligomerization	cell junction|cytoplasm|integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity										CCAGGTCACCTTTTTCTGTGA	0.587													2	4	---	---	---	---						-	21380547	T	-	21380547	7	5	75	1	0	1	0	1	0	0	0	0	11391	1609	56	0	1099	0	P2RX6	22	21380547	Frame_Shift_Del	DEL	T	TCGA-EJ-7328-01A-31D-2114-08		21380547	29924019	47	3850											
ACRC	93953	broad.mit.edu	37	chrX	70828895	70828895	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagaaatactctggaaaaaaTttaaagcgaaataaggatga	22	8	8	3	1	1	2	0	1	1	1	1	5	1	4	0	2	2	0	0	2	10	4			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chrX:70828895T>A	ENST00000373695.1	+	9	2076	c.1539T>A	c.(1537-1539)aaT>aaA	p.N513K	ACRC_ENST00000373696.3_Missense_Mutation_p.N513K			Q96QF7	ACRC_HUMAN	acidic repeat containing	513	Arg/Lys/Pro-rich.					nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					CTGGAAAAAATTTAAAGCGAA	0.363													12	15					0	0	1	0	0	A	70828895	T	A	70828895	3	1	75	1	0	0	0	0	1	0	0	0	171	1490	52	5	1573	5	ACRC	23	70828895	Missense_Mutation	SNP	T	TCGA-EJ-7328-01A-31D-2114-08		70828895	84441665	48	3851											
ATG4A	115201	broad.mit.edu	37	chrX	107396937	107396937	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagattttgagattctgagtGtgtagaatcctgggaactca	12	13	11	5	0	2	4	1	2	1	3	3	6	3	5	1	1	1	1	1	1	4	4			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chrX:107396937G>A	ENST00000372232.3	+	13	1351	c.1192G>A	c.(1192-1194)Gtg>Atg	p.V398M	ATG4A_ENST00000345734.3_Missense_Mutation_p.V336M|ATG4A_ENST00000545696.1_Missense_Mutation_p.V259M|ATG4A_ENST00000372254.3_Missense_Mutation_p.V374M|ATG4A_ENST00000489247.1_3'UTR|COL4A6_ENST00000418180.1_Intron	NM_052936.3	NP_443168.2	Q8WYN0	ATG4A_HUMAN	autophagy related 4A, cysteine peptidase	398					autophagy|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity			endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)	11						GATTCTGAGTGTGTAGAATCC	0.393													6	69					0	0	1	0	0	A	107396937	G	A	107396937	3	1	75	1	0	0	0	0	1	0	0	0	1095	1377	48	2	1242	2	ATG4A	23	107396937	Missense_Mutation	SNP	G	TCGA-EJ-7328-01A-31D-2114-08	36568042	107396937	47873623	49	3852											
PASD1	139135	broad.mit.edu	37	chrX	150832695	150832695	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaggtggactcagtggacCaggagggcccaatggaccag	11	5	15	10	0	2	0	2	0	0	0	2	4	2	4	3	6	0	0	3	6	1	0			TCGA-EJ-7328-01A-31D-2114-08	TCGA-EJ-7328-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f4dae7e-36da-4014-a9df-9907ad1f7af8	fb1f3dbb-8353-4bfc-b0eb-5da03492262e	g.chrX:150832695C>G	ENST00000370357.4	+	11	1191	c.946C>G	c.(946-948)Cag>Gag	p.Q316E		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	316						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CTCAGTGGACCAGGAGGGCCC	0.587													21	45					0	0	1	0	0	G	150832695	C	G	150832695	3	3	75	1	0	0	0	0	1	0	0	0	11518	595	21	4	984	4	PASD1	23	150832695	Missense_Mutation	SNP	C	TCGA-EJ-7328-01A-31D-2114-08	43435758	150832695	4437865	50	3853											
ENO1	2023	broad.mit.edu	37	chr1	8923006	8923006	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaggggcaccagtcttgatcTaggagaaaagaaaggccatt	15	7	12	7	0	2	3	0	1	2	2	2	4	2	3	2	4	0	1	2	4	5	3			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr1:8923006T>C	ENST00000234590.4	-	11	1296		c.e11-2			NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)						gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		AGTCTTGATCTAGGAGAAAAG	0.532											OREG0013068	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	29					0	0	1	0	0	C	8923006	T	C	8923006	5	2	76	1	0	0	0	0	0	0	1	0	5149	1536	53	3	137	3	ENO1	1	8923006	Splice_Site	SNP	T	TCGA-EJ-7330-01A-11D-2114-08		8923006	240327615	1	3854											
CLCNKB	1188	broad.mit.edu	37	chr1	16378219	16378219	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccaggagctgctatcgggCgcctctttggggagactctc	5	9	15	12	2	2	1	0	0	2	1	4	3	2	2	2	5	2	2	2	5	1	2	rs121909133		TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr1:16378219C>T	ENST00000375679.4	+	14	1423	c.1312C>T	c.(1312-1314)Cgc>Tgc	p.R438C	CLCNKB_ENST00000375667.3_Missense_Mutation_p.R269C	NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb									p.R438C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		TGCTATCGGGCGCCTCTTTGG	0.617													9	260					0	0	1	0	0	T	16378219	C	T	16378219	3	4	76	1	0	0	0	0	1	0	0	0	3493	768	27	1	1510	1	CLCNKB	1	16378219	Missense_Mutation	SNP	C	TCGA-EJ-7330-01A-11D-2114-08	7455213	16378219	232872402	2	3855											
CELA3A	10136	broad.mit.edu	37	chr1	22332001	22332001	+	Frame_Shift_Del	DEL	C	C	-																															gtgtggcggtagcctcatcgCccccgattgggttgtgactg																										TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr1:22332001delC	ENST00000290122.3	+	3	210	c.191delC	c.(190-192)gcfs	p.A64fs	CELA3A_ENST00000374663.1_Frame_Shift_Del_p.A64fs	NM_005747.4	NP_005738.4			chymotrypsin-like elastase family, member 3A											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						AGCCTCATCGCCCCCGATTGG	0.627											OREG0013211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	207	---	---	---	---						-	22332001	C	-	22332001	7	5	76	1	0	1	0	1	0	0	0	0	3235	739	26	0	201	0	CELA3A	1	22332001	Frame_Shift_Del	DEL	C	TCGA-EJ-7330-01A-11D-2114-08	5953782	22332001	226918620	3	3856											
ARID1A	8289	broad.mit.edu	37	chr1	27023376	27023377	+	In_Frame_Ins	INS	-	-	CGC																															ggccggagcccgtctgccgtINScgccgccgccgcggccgccg																										TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	d2a35e27-301b-4cd6-8246-bd0ac6c2e023	g.chr1:27023376_27023377insCGC	ENST00000324856.7	+	1	853_854	c.482_483insCGC	c.(481-483)ggc>gCGCgc	p.161_161G>AR	ARID1A_ENST00000457599.2_In_Frame_Ins_p.161_161G>AR	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	161					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.P158fs*236(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCGTCTGCCGTCGCCGCCGCCG	0.752			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								5	5	---	---	---	---						CGC	27023377	-	CGC	27023376	7	5	76	1	0	1	1	0	0	0	0	0	910	1667	58	0	484	0	ARID1A	1	27023376	In_Frame_Ins	INS	-	TCGA-EJ-7330-01A-11D-2114-08	4691375	27023376	222227245	4	3857											
KIFAP3	22920	broad.mit.edu	37	chr1	169953739	169953739	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaccttcacagataagctgTacatttcttttgttagcagc	10	15	7	9	0	2	2	1	1	1	1	2	2	2	2	1	0	4	4	1	0	3	7			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr1:169953739T>C	ENST00000367765.1	-	12	2758	c.1257A>G	c.(1255-1257)gtA>gtG	p.V419V	KIFAP3_ENST00000538366.1_Silent_p.V381V|KIFAP3_ENST00000361580.2_Silent_p.V459V|KIFAP3_ENST00000540905.1_Silent_p.V161V|KIFAP3_ENST00000367767.1_Silent_p.V415V	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	459					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGATAAGCTGTACATTTCTTT	0.328													8	58					0	0	1	0	0	C	169953739	T	C	169953739	2	2	76	1	0	0	0	0	0	0	0	1	8353	1625	57	3		3	KIFAP3	1	169953739	Silent	SNP	T	TCGA-EJ-7330-01A-11D-2114-08	142930363	169953739	79296882	5	3858											
FBLN7	129804	broad.mit.edu	37	chr2	112940404	112940404	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctacgggcaggaggggcGcccccggctctgcatgcacg	5	5	16	15	4	2	0	0	0	2	0	2	1	2	1	2	5	3	5	2	5	1	1			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr2:112940404G>A	ENST00000331203.2	+	6	978	c.707G>A	c.(706-708)cGc>cAc	p.R236H	FBLN7_ENST00000409450.3_Missense_Mutation_p.R190H|FBLN7_ENST00000409903.1_Missense_Mutation_p.R236H|FBLN7_ENST00000409667.3_Intron	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	236	EGF-like 2; calcium-binding (Potential).				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CAGGAGGGGCGCCCCCGGCTC	0.622													4	99					0	0	1	0	0	A	112940404	G	A	112940404	3	1	76	1	0	0	0	0	1	0	0	0	5734	1087	38	1	729	1	FBLN7	2	112940404	Missense_Mutation	SNP	G	TCGA-EJ-7330-01A-11D-2114-08		112940404	130258969	6	3859											
EPB41L5	57669	broad.mit.edu	37	chr2	120932465	120932465	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcctgaagcagaagtgtttActgaccactgagctctgagg	10	10	12	9	0	1	5	0	4	1	1	2	5	2	5	2	1	3	3	2	1	3	2			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr2:120932465A>G	ENST00000443902.2	+	24	2195	c.2053A>G	c.(2053-2055)Act>Gct	p.T685A	AC012363.4_ENST00000455707.1_RNA|EPB41L5_ENST00000452780.1_Silent_p.L727L|EPB41L5_ENST00000263713.5_Silent_p.L728L	NM_001184937.1	NP_001171866.1	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	0						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						AGAAGTGTTTACTGACCACTG	0.512													27	157					0	0	1	0	0	G	120932465	A	G	120932465	3	3	76	1	0	0	0	0	1	0	0	0	5185	391	14	3	2463	3	EPB41L5	2	120932465	Missense_Mutation	SNP	A	TCGA-EJ-7330-01A-11D-2114-08	7992061	120932465	122266908	7	3860											
DNAH7	56171	broad.mit.edu	37	chr2	196673406	196673406	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgagagggttaaaacatacCaaactatcatatactttctt	15	13	6	7	0	2	1	1	1	1	1	2	2	2	1	1	1	4	1	1	1	7	7			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr2:196673406C>T	ENST00000312428.6	-	53	10183	c.10083_splice	c.e53+1	p.L3361_splice		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3361					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.L3361F(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TAAAACATACCAAACTATCAT	0.318													7	83					0	0	1	0	0	T	196673406	C	T	196673406	5	4	76	1	0	0	0	0	0	0	1	0	4633	608	21	2	2043	2	DNAH7	2	196673406	Splice_Site	SNP	C	TCGA-EJ-7330-01A-11D-2114-08	75740941	196673406	46525967	8	3861											
IQCF3	401067	broad.mit.edu	37	chr3	51864455	51864455	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcatcacagaaaaagggtgAaggcagctgggcagatccag	14	5	14	8	0	1	3	1	1	0	2	2	3	2	3	1	3	2	4	1	3	3	0			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr3:51864455A>T	ENST00000456080.1	+	8	1268	c.103A>T	c.(103-105)Aag>Tag	p.K35*	IQCF3_ENST00000462079.1_3'UTR|IQCF3_ENST00000446775.1_Nonsense_Mutation_p.K35*|IQCF3_ENST00000444293.1_Intron|IQCF3_ENST00000440739.2_Nonsense_Mutation_p.K35*|IQCF3_ENST00000437810.2_Nonsense_Mutation_p.K35*			P0C7M6	IQCF3_HUMAN	IQ motif containing F3	35										endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AAAAAGGGTGAAGGCAGCTGG	0.567													15	43					0	0	1	0	0	T	51864455	A	T	51864455	4	4	76	1	0	0	0	0	0	1	0	0	7853	247	9	5	113	5	IQCF3	3	51864455	Nonsense_Mutation	SNP	A	TCGA-EJ-7330-01A-11D-2114-08		51864455	146157975	9	3862											
RYBP	23429	broad.mit.edu	37	chr3	72428400	72428400	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acttagttaaccagaaacttActtggttttcttgttggtat	10	18	7	6	0	1	1	0	0	1	1	1	1	1	1	1	2	3	4	1	2	5	9			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr3:72428400A>T	ENST00000477973.1	-	2	600		c.e2+1			NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN	RING1 and YY1 binding protein						apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			prostate(1)|upper_aerodigestive_tract(1)	2		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)		CCAGAAACTTACTTGGTTTTC	0.328													28	99					0	0	1	0	0	T	72428400	A	T	72428400	5	4	76	1	0	0	0	0	0	0	1	0	13818	405	14	5	361	5	RYBP	3	72428400	Splice_Site	SNP	A	TCGA-EJ-7330-01A-11D-2114-08	20563945	72428400	125594030	10	3863											
KCNAB1	7881	broad.mit.edu	37	chr3	156192555	156192555	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctccagaggctgcagctcGagtatgtggatgtggtcttt	6	12	13	10	1	1	1	0	0	1	1	3	3	2	2	2	3	2	4	2	3	1	2			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr3:156192555G>T	ENST00000302490.8	+	8	1421	c.550G>T	c.(550-552)Gag>Tag	p.E184*	KCNAB1_ENST00000490337.1_Nonsense_Mutation_p.E202*|KCNAB1_ENST00000389634.5_Intron|KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000389636.5_Intron|KCNAB1_ENST00000471742.1_Nonsense_Mutation_p.E191*	NM_172159.3	NP_751891.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	202						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			GCTGCAGCTCGAGTATGTGGA	0.433													14	128					4.7546e-09	5.27464e-09	1	1	0	T	156192555	G	T	156192555	4	4	76	1	0	0	0	0	0	1	0	0	8053	1059	37	4	1105	4	KCNAB1	3	156192555	Nonsense_Mutation	SNP	G	TCGA-EJ-7330-01A-11D-2114-08	83764155	156192555	41829875	11	3864											
HELQ	113510	broad.mit.edu	37	chr4	84370065	84370065	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttggcaaggaatatattaaAttttttctttcttgcacaga	12	17	7	5	0	2	1	0	0	2	1	2	2	2	2	0	2	1	3	0	2	6	9			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr4:84370065A>T	ENST00000295488.3	-	3	1224	c.1062T>A	c.(1060-1062)aaT>aaA	p.N354K	HELQ_ENST00000510985.1_Missense_Mutation_p.N354K	NM_133636.2	NP_598375.2	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	354	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						AATATATTAAATTTTTTCTTT	0.338								Other identified genes with known or suspected DNA repair function					3	31					0	0	1	0	0	T	84370065	A	T	84370065	3	4	76	1	0	0	0	0	1	0	0	0	7088	98	4	5	2307	5	HELQ	4	84370065	Missense_Mutation	SNP	A	TCGA-EJ-7330-01A-11D-2114-08		84370065	106784211	12	3865											
GRID2	2895	broad.mit.edu	37	chr4	94693450	94693450	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagatccagactcttagccGcacactgtcagctaaagctg	11	8	9	13	1	2	2	1	0	1	2	3	2	3	2	2	0	3	4	2	0	3	2			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr4:94693450G>A	ENST00000282020.4	+	16	3083	c.2825G>A	c.(2824-2826)cGc>cAc	p.R942H	GRID2_ENST00000510992.1_Missense_Mutation_p.R847H	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	942	Interaction with AP4M1 (By similarity).				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	ACTCTTAGCCGCACACTGTCA	0.493													3	54					0	0	1	0	0	A	94693450	G	A	94693450	3	1	76	1	0	0	0	0	1	0	0	0	6813	1087	38	1	2887	1	GRID2	4	94693450	Missense_Mutation	SNP	G	TCGA-EJ-7330-01A-11D-2114-08	10323385	94693450	96460826	13	3866											
AGA	175	broad.mit.edu	37	chr4	178360790	178360790	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tactttccgtgccacaccaaTagcatttttaattcgtctga	10	15	5	11	2	1	1	0	1	1	0	3	1	2	1	3	0	3	1	3	0	4	7			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr4:178360790T>C	ENST00000264595.2	-	3	461	c.334A>G	c.(334-336)Att>Gtt	p.I112V	AGA_ENST00000506853.1_5'UTR	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN	aspartylglucosaminidase	112					asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation	endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity	p.I112V(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		GCCACACCAATAGCATTTTTA	0.368													38	271					0	0	1	0	0	C	178360790	T	C	178360790	3	2	76	1	0	0	0	0	1	0	0	0	364	1406	49	3	734	3	AGA	4	178360790	Missense_Mutation	SNP	T	TCGA-EJ-7330-01A-11D-2114-08	83667340	178360790	12793486	14	3867											
ZNF608	57507	broad.mit.edu	37	chr5	124079813	124079815	+	In_Frame_Del	DEL	CTC	CTC	-																															ttcttgattcgcctgtggctCtcctcctcctcctcttcctt																										TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	d2a35e27-301b-4cd6-8246-bd0ac6c2e023	g.chr5:124079813_124079815delCTC	ENST00000306315.5	-	1	1303_1305	c.868_870delGAG	c.(868-870)del	p.E290del	ZNF608_ENST00000504926.1_Intron	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	290						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GCCTGTGGCTCTCCTCCTCCTCC	0.522													7	262	---	---	---	---						-	124079815	CTC	-	124079813	7	5	76	1	0	1	0	1	0	0	0	0	18091	912	32	0	3704	0	ZNF608	5	124079813	In_Frame_Del	DEL	CTC	TCGA-EJ-7330-01A-11D-2114-08		124079813	56835447	15	3868											
PCDH1	5097	broad.mit.edu	37	chr5	141242917	141242917	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtggcaggtcctgtacCacctggtgcttcttggaggc	5	10	15	11	0	1	0	0	0	1	0	2	1	2	1	3	6	2	4	3	6	1	3			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr5:141242917C>T	ENST00000287008.3	-	3	3126	c.2979G>A	c.(2977-2979)gtG>gtA	p.V993V	PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000456271.1_Silent_p.V981V|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000536585.1_Silent_p.V971V|PCDH1_ENST00000394536.3_Silent_p.V993V	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	993					cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		GGTCCTGTACCACCTGGTGCT	0.637													3	24					0	0	1	0	0	T	141242917	C	T	141242917	2	4	76	1	0	0	0	0	0	0	0	1	11553	581	21	2		2	PCDH1	5	141242917	Silent	SNP	C	TCGA-EJ-7330-01A-11D-2114-08	17163104	141242917	39672343	16	3869											
CRISP2	7180	broad.mit.edu	37	chr6	49665572	49665572	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aactctaaacagtctacttaCgcaggacaatattggcaaac	16	9	6	10	1	2	0	0	0	2	0	2	1	2	1	0	2	5	2	0	2	8	5	rs147611117		TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr6:49665572C>T	ENST00000339139.4	-	8	752		c.e8+1			NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2							extracellular space				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			AGTCTACTTACGCAGGACAAT	0.328													22	138					0	0	1	0	0	T	49665572	C	T	49665572	5	4	76	1	0	0	0	0	0	0	1	0	3903	550	19	1	227	1	CRISP2	6	49665572	Splice_Site	SNP	C	TCGA-EJ-7330-01A-11D-2114-08		49665572	121449495	17	3870											
USP45	85015	broad.mit.edu	37	chr6	99955361	99955361	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggggctctgttctggaactcTtaaagtgcttcaatgaatgt	9	14	11	7	0	4	1	1	1	3	0	4	2	4	2	0	3	2	3	0	3	5	3			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr6:99955361T>C	ENST00000327681.6	-	4	852	c.320A>G	c.(319-321)aAg>aGg	p.K107R	USP45_ENST00000392738.2_5'UTR|USP45_ENST00000369233.2_Missense_Mutation_p.K107R|USP45_ENST00000472914.2_Missense_Mutation_p.K107R|USP45_ENST00000329966.5_Missense_Mutation_p.K107R|USP45_ENST00000369232.2_5'UTR|USP45_ENST00000369231.3_Missense_Mutation_p.K107R|USP45_ENST00000500704.2_Missense_Mutation_p.K107R	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	107					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		TCTGGAACTCTTAAAGTGCTT	0.333													3	70					0	0	1	0	0	C	99955361	T	C	99955361	3	2	76	1	0	0	0	0	1	0	0	0	17136	1609	56	3	2184	3	USP45	6	99955361	Missense_Mutation	SNP	T	TCGA-EJ-7330-01A-11D-2114-08	50289789	99955361	71159706	18	3871											
AHI1	54806	broad.mit.edu	37	chr6	135787164	135787164	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcctcttctaaatcagtCtcttctcttccctcatttgc	6	18	2	15	0	7	0	3	0	4	0	11	0	9	0	2	0	1	0	2	0	2	5			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr6:135787164C>A	ENST00000367800.4	-	5	753	c.537G>T	c.(535-537)gaG>gaT	p.E179D	AHI1_ENST00000457866.2_Missense_Mutation_p.E179D|AHI1_ENST00000327035.6_Missense_Mutation_p.E179D	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	179						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		CTAAATCAGTCTCTTCTCTTC	0.393													9	55					0.00621372	0.00648785	1	1	0	A	135787164	C	A	135787164	3	1	76	1	0	0	0	0	1	0	0	0	410	912	32	4	3202	4	AHI1	6	135787164	Missense_Mutation	SNP	C	TCGA-EJ-7330-01A-11D-2114-08	35831803	135787164	35327903	19	3872											
IL20RA	53832	broad.mit.edu	37	chr6	137329811	137329811	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggacgaaggactccacgtGtacgcagtaaagagtgttcg	11	8	14	8	4	0	1	0	0	0	1	2	4	1	3	1	2	1	4	1	2	4	3			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr6:137329811G>A	ENST00000367748.1	-	4	902	c.316C>T	c.(316-318)Cac>Tac	p.H106Y	IL20RA_ENST00000468393.1_5'UTR|IL20RA_ENST00000316649.5_Missense_Mutation_p.H217Y|IL20RA_ENST00000541547.1_Missense_Mutation_p.H168Y			Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	217	Fibronectin type-III 1.					integral to membrane	receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		GACTCCACGTGTACGCAGTAA	0.532													4	118					0	0	1	0	0	A	137329811	G	A	137329811	3	1	76	1	0	0	0	0	1	0	0	0	7712	1377	48	2	1024	2	IL20RA	6	137329811	Missense_Mutation	SNP	G	TCGA-EJ-7330-01A-11D-2114-08	1542647	137329811	33785256	20	3873											
TNRC18	84629	broad.mit.edu	37	chr7	5352528	5352530	+	In_Frame_Del	DEL	GAG	GAG	-																															tggaggaagaagaggaggaaGaggaggaggaggaggaggat																										TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr7:5352528_5352530delGAG	ENST00000399537.4	-	27	8340_8342	c.7992_7994delCTC	c.(7990-7995)tct>tc	p.SS2670del	TNRC18_ENST00000430969.1_In_Frame_Del_p.SS2670del			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2670	Ser-rich.						DNA binding	p.S2671delS(2)|p.P1177delP(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		agaggaggaagaggaggaggagg	0.64													3	6	---	---	---	---						-	5352530	GAG	-	5352528	7	5	76	1	0	1	0	1	0	0	0	0	16399	942	33	0	928	0	TNRC18	7	5352528	In_Frame_Del	DEL	GAG	TCGA-EJ-7330-01A-11D-2114-08		5352528	153786135	21	3874											
TNRC18	84629	broad.mit.edu	37	chr7	5427648	5427648	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgccacagccaccagggcGcacggccacggcgtcccggg	6	3	14	18	5	0	0	0	0	0	0	1	0	1	0	5	4	2	1	5	4	0	1			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr7:5427648G>A	ENST00000399537.4	-	5	2155	c.1807C>T	c.(1807-1809)Cgc>Tgc	p.R603C	TNRC18_ENST00000430969.1_Missense_Mutation_p.R603C			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	603							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CCACCAGGGCGCACGGCCACG	0.672													3	9					0	0	1	0	0	A	5427648	G	A	5427648	3	1	76	1	0	0	0	0	1	0	0	0	16399	1087	38	1	7203	1	TNRC18	7	5427648	Missense_Mutation	SNP	G	TCGA-EJ-7330-01A-11D-2114-08	75120	5427648	153711015	22	3875											
CDK13	8621	broad.mit.edu	37	chr7	40085626	40085626	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atatccttctaaataataggTatgggtatgaactttatata	15	16	6	4	0	1	1	0	1	1	0	2	1	2	1	1	2	1	2	1	2	11	11			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr7:40085626T>C	ENST00000181839.4	+	6	3148		c.e6+2		CDK13_ENST00000340829.5_Splice_Site|CDK13_ENST00000484589.1_Splice_Site	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13						alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						AAATAATAGGTATGGGTATGA	0.373													31	101					0	0	1	0	0	C	40085626	T	C	40085626	5	2	76	1	0	0	0	0	0	0	1	0	3151	1652	57	3	2567	3	CDK13	7	40085626	Splice_Site	SNP	T	TCGA-EJ-7330-01A-11D-2114-08	34657978	40085626	119053037	23	3876											
DDC	1644	broad.mit.edu	37	chr7	50607643	50607643	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgatgcagccaatggccccGcacagcatgtccgcaagcat	10	5	10	16	3	0	0	0	0	0	0	1	1	1	0	5	1	4	5	5	1	2	0			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr7:50607643G>A	ENST00000444124.2	-	3	485	c.285C>T	c.(283-285)tgC>tgT	p.C95C	DDC_ENST00000357936.5_Silent_p.C95C|DDC_ENST00000380984.4_Silent_p.C95C|DDC_ENST00000489162.1_5'UTR|DDC_ENST00000426377.1_Intron|AC018705.5_ENST00000454521.1_RNA|DDC_ENST00000431062.1_Silent_p.C95C	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	95	2 X approximate tandem repeats.				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	CAATGGCCCCGCACAGCATGT	0.657													16	29					0	0	1	0	0	A	50607643	G	A	50607643	2	1	76	1	0	0	0	0	0	0	0	1	4348	1079	38	1		1	DDC	7	50607643	Silent	SNP	G	TCGA-EJ-7330-01A-11D-2114-08	10522017	50607643	108531020	24	3877											
ZNF92	168374	broad.mit.edu	37	chr7	64864202	64864202	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taaacataaaagaattcataCgggagaaaaaccctacaaat	22	7	5	7	1	1	2	1	0	0	2	1	3	1	2	1	1	4	0	1	1	10	5			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr7:64864202C>T	ENST00000328747.7	+	4	1374	c.1175C>T	c.(1174-1176)aCg>aTg	p.T392M	ZNF92_ENST00000431504.1_Missense_Mutation_p.T316M|ZNF92_ENST00000450302.2_Missense_Mutation_p.T323M|ZNF92_ENST00000357512.2_Missense_Mutation_p.T360M	NM_152626.2	NP_689839.1	Q03936	ZNF92_HUMAN	zinc finger protein 92	392						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13		Lung NSC(55;0.159)				AGAATTCATACGGGAGAAAAA	0.373													13	82					0	0	1	0	0	T	64864202	C	T	64864202	3	4	76	1	0	0	0	0	1	0	0	0	18243	536	19	1	1189	1	ZNF92	7	64864202	Missense_Mutation	SNP	C	TCGA-EJ-7330-01A-11D-2114-08	14256559	64864202	94274461	25	3878											
GATS	0	broad.mit.edu	37	chr7	99821642	99821642	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgccaccgccggacaccaCgttcagggccagccaggtgg	7	4	14	16	3	1	0	1	0	0	0	1	1	1	1	6	4	2	2	6	4	0	1			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr7:99821642C>T	ENST00000436886.2	-	3	522	c.274G>A	c.(274-276)Gtg>Atg	p.V92M	GATS_ENST00000543273.1_RNA	NM_178831.6	NP_849153.3	Q8NAP1	GATS_HUMAN		92										endometrium(2)|large_intestine(2)|lung(4)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCGGACACCACGTTCAGGGCC	0.622													18	124					0	0	1	0	0	T	99821642	C	T	99821642	3	4	76	1	0	0	0	0	1	0	0	0	6304	536	19	1	225	1	GATS	7	99821642	Missense_Mutation	SNP	C	TCGA-EJ-7330-01A-11D-2114-08	34957440	99821642	59317021	26	3879											
CNGB3	54714	broad.mit.edu	37	chr8	87645021	87645021	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacaaaaactccagaaaaaaAattcaagagttgaaaaacaa	25	5	4	7	0	1	3	1	1	0	2	2	3	2	3	1	0	2	1	1	0	10	2			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr8:87645021A>C	ENST00000320005.5	-	11	1326	c.1279T>G	c.(1279-1281)Ttt>Gtt	p.F427V		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	427					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						CCAGAAAAAAAATTCAAGAGT	0.358													4	24					0	0	1	0	0	C	87645021	A	C	87645021	3	2	76	1	0	0	0	0	1	0	0	0	3624	14	1	5	1182	5	CNGB3	8	87645021	Missense_Mutation	SNP	A	TCGA-EJ-7330-01A-11D-2114-08		87645021	58719001	27	3880											
RPP38	10557	broad.mit.edu	37	chr10	15145358	15145358	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggcggggatctctccgtaaGacgagacctctggttgtgaa	8	9	15	9	3	2	3	0	1	2	2	4	5	3	4	2	4	0	2	2	4	2	2			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr10:15145358G>A	ENST00000378197.4	+	3	559	c.45G>A	c.(43-45)aaG>aaA	p.K15K	NMT2_ENST00000466201.1_5'UTR|RPP38_ENST00000378202.5_Silent_p.K15K|RPP38_ENST00000451677.1_Intron	NM_183005.4	NP_892117.1	P78345	RPP38_HUMAN	ribonuclease P/MRP 38kDa subunit	15					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)	8						CTCTCCGTAAGACGAGACCTC	0.498													13	74					0	0	1	0	0	A	15145358	G	A	15145358	2	1	76	1	0	0	0	0	0	0	0	1	13665	933	33	2		2	RPP38	10	15145358	Silent	SNP	G	TCGA-EJ-7330-01A-11D-2114-08		15145358	120389389	28	3881											
PTCHD3	374308	broad.mit.edu	37	chr10	27702748	27702748	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggctgtcagcatcaagggCgccagcaggaagatccaggg	10	4	16	11	2	2	1	2	0	0	1	3	2	3	2	2	4	2	3	2	4	2	0			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr10:27702748C>T	ENST00000438700.3	-	1	549	c.432G>A	c.(430-432)gcG>gcA	p.A144A		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	144					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GCATCAAGGGCGCCAGCAGGA	0.667													12	78					0	0	1	0	0	T	27702748	C	T	27702748	2	4	76	1	0	0	0	0	0	0	0	1	12783	755	27	1		1	PTCHD3	10	27702748	Silent	SNP	C	TCGA-EJ-7330-01A-11D-2114-08	12557390	27702748	107831999	29	3882											
ZMIZ1	57178	broad.mit.edu	37	chr10	81058166	81058166	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttttctttccctccagcctCccaggccggttcctgtggca	3	13	8	17	1	1	0	0	0	1	0	5	0	5	0	6	3	1	2	6	3	0	4			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr10:81058166C>T	ENST00000334512.5	+	15	2067	c.1495C>T	c.(1495-1497)Ccc>Tcc	p.P499S		NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	499	Pro-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CCTCCAGCCTCCCAGGCCGGT	0.602													41	257					0	0	1	0	0	T	81058166	C	T	81058166	3	4	76	1	0	0	0	0	1	0	0	0	17754	855	30	2	1537	2	ZMIZ1	10	81058166	Missense_Mutation	SNP	C	TCGA-EJ-7330-01A-11D-2114-08	53355418	81058166	54476581	30	3883											
ALDH18A1	5832	broad.mit.edu	37	chr10	97380889	97380889	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttggcgattcgggtgcggcGcaaaacacgtcccacgctgt	7	9	13	12	6	0	0	0	0	0	0	2	1	1	0	1	3	2	2	1	3	2	2			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr10:97380889G>A	ENST00000371224.2	-	12	1503	c.1366C>T	c.(1366-1368)Cgc>Tgc	p.R456C	ALDH18A1_ENST00000371221.3_Missense_Mutation_p.R454C	NM_002860.3	NP_002851.2	P54886	P5CS_HUMAN	aldehyde dehydrogenase 18 family, member A1	456	Gamma-glutamyl phosphate reductase.				proline biosynthetic process	mitochondrial inner membrane	ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)	L-Glutamic Acid(DB00142)	CGGGTGCGGCGCAAAACACGT	0.537													13	67					0	0	1	0	0	A	97380889	G	A	97380889	3	1	76	1	0	0	0	0	1	0	0	0	486	1087	38	1	1049	1	ALDH18A1	10	97380889	Missense_Mutation	SNP	G	TCGA-EJ-7330-01A-11D-2114-08	16322723	97380889	38153858	31	3884											
SLC6A5	9152	broad.mit.edu	37	chr11	20676275	20676275	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagaggctgaagttggtgtGctcgccacagccggactggg	7	7	17	10	2	0	2	0	1	0	1	1	3	0	3	2	4	2	4	2	4	1	1			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr11:20676275G>A	ENST00000525748.1	+	16	2528	c.2255G>A	c.(2254-2256)tGc>tAc	p.C752Y	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	752					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	AAGTTGGTGTGCTCGCCACAG	0.557													4	112					0	0	1	0	0	A	20676275	G	A	20676275	3	1	76	1	0	0	0	0	1	0	0	0	14742	1319	46	2	2317	2	SLC6A5	11	20676275	Missense_Mutation	SNP	G	TCGA-EJ-7330-01A-11D-2114-08		20676275	114330241	32	3885											
OR4X2	119764	broad.mit.edu	37	chr11	48266787	48266787	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgctcactgtcatgaccagCagaagccttggttcccccat	8	10	9	14	0	2	2	2	1	0	1	3	2	3	2	4	1	3	3	4	1	1	2			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr11:48266787C>A	ENST00000302329.3	+	1	180	c.132C>A	c.(130-132)agC>agA	p.S44R		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TCATGACCAGCAGAAGCCTTG	0.502													14	117					1.15088e-07	1.25711e-07	1	1	0	A	48266787	C	A	48266787	3	1	76	1	0	0	0	0	1	0	0	0	11133	709	25	4	134	4	OR4X2	11	48266787	Missense_Mutation	SNP	C	TCGA-EJ-7330-01A-11D-2114-08	27590512	48266787	86739729	33	3886											
KCTD14	65987	broad.mit.edu	37	chr11	77728307	77728307	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccgacgttcagctccacaaCagtagacatctgggggcaca	11	6	10	14	2	2	1	1	0	1	1	3	2	3	1	2	2	2	4	2	2	2	2			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr11:77728307C>G	ENST00000353172.5	-	2	144	c.100G>C	c.(100-102)Gtt>Ctt	p.V34L	KCTD14_ENST00000533144.1_Missense_Mutation_p.V4L|NDUFC2-KCTD14_ENST00000530054.1_Missense_Mutation_p.C107S|NDUFC2-KCTD14_ENST00000528251.1_Missense_Mutation_p.C59S	NM_001203260.1|NM_001203262.1|NM_023930.3	NP_001190189.1|NP_001190191.1|NP_076419.2	Q9BQ13	KCD14_HUMAN	potassium channel tetramerization domain containing 14	34	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	15	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1e-24)			AGCTCCACAACAGTAGACATC	0.502													8	46					0	0	1	0	0	G	77728307	C	G	77728307	3	3	76	1	0	0	0	0	1	0	0	0	8145	478	17	4	671	4	KCTD14	11	77728307	Missense_Mutation	SNP	C	TCGA-EJ-7330-01A-11D-2114-08	29461520	77728307	57278209	34	3887											
TRIM29	23650	broad.mit.edu	37	chr11	120008138	120008138	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggcggcgccctccaggtggGgcttgagatgcagctcgcag	6	6	17	12	3	0	1	0	1	0	1	2	2	1	1	2	5	2	4	2	5	0	1			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr11:120008138G>A	ENST00000341846.5	-	1	1023	c.602C>T	c.(601-603)cCc>cTc	p.P201L		NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	201					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		CTCCAGGTGGGGCTTGAGATG	0.647													7	35					0	0	1	0	0	A	120008138	G	A	120008138	3	1	76	1	0	0	0	0	1	0	0	0	16564	1232	43	2	1200	2	TRIM29	11	120008138	Missense_Mutation	SNP	G	TCGA-EJ-7330-01A-11D-2114-08	42279831	120008138	14998378	35	3888											
SCN8A	6334	broad.mit.edu	37	chr12	52200821	52200821	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcttggacatcctttttgccTtcaccaagcgggtcctggga	6	12	11	12	1	1	0	1	0	0	0	3	2	3	2	4	3	2	1	4	3	1	4			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr12:52200821T>G	ENST00000354534.5	+	27	5729	c.5551T>G	c.(5551-5553)Ttc>Gtc	p.F1851V	SCN8A_ENST00000545061.1_Missense_Mutation_p.F1810V	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1851					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	CCTTTTTGCCTTCACCAAGCG	0.557													26	117					0	0	1	0	0	G	52200821	T	G	52200821	3	3	76	1	0	0	0	0	1	0	0	0	13978	1609	56	5	5653	5	SCN8A	12	52200821	Missense_Mutation	SNP	T	TCGA-EJ-7330-01A-11D-2114-08		52200821	81651074	36	3889											
WIF1	11197	broad.mit.edu	37	chr12	65514270	65514270	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctggcattctctgttgtgctTttctgaaatcatgtgtaaaa	9	17	8	7	0	3	1	1	1	2	0	4	1	3	1	0	1	1	4	0	1	3	5			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr12:65514270T>C	ENST00000286574.4	-	2	589	c.215A>G	c.(214-216)aAa>aGa	p.K72R		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	72	WIF.				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity	p.K72I(2)		cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		CTGTTGTGCTTTTCTGAAATC	0.378			T	HMGA2	pleomorphic salivary gland adenoma								5	109					0	0	1	0	0	C	65514270	T	C	65514270	3	2	76	1	0	0	0	0	1	0	0	0	17426	1841	64	3	960	3	WIF1	12	65514270	Missense_Mutation	SNP	T	TCGA-EJ-7330-01A-11D-2114-08	13313449	65514270	68337625	37	3890											
CAND1	55832	broad.mit.edu	37	chr12	67700301	67700301	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggaaccagaaatgttgtTgctgaatgtctaggaaaact	15	10	11	5	0	1	2	0	1	1	1	1	5	1	4	1	2	3	3	1	2	7	3			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr12:67700301T>C	ENST00000545606.1	+	10	3290	c.2853T>C	c.(2851-2853)gtT>gtC	p.V951V		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	951					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		GAAATGTTGTTGCTGAATGTC	0.423													12	75					0	0	1	0	0	C	67700301	T	C	67700301	2	2	76	1	0	0	0	0	0	0	0	1	2633	1799	63	3		3	CAND1	12	67700301	Silent	SNP	T	TCGA-EJ-7330-01A-11D-2114-08	2186031	67700301	66151594	38	3891											
C1QTNF9B	387911	broad.mit.edu	37	chr13	24465562	24465562	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcagctgcaggacaatgcTgccagaggcctggtcctcag	8	8	12	13	0	2	1	2	0	0	1	3	2	3	2	3	3	4	3	3	3	1	1	rs41286068	by1000genomes	TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr13:24465562T>C	ENST00000382137.3	-	3	936	c.868A>G	c.(868-870)Agc>Ggc	p.S290G	C1QTNF9B_ENST00000382145.1_3'UTR|C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B_ENST00000556521.1_5'UTR|C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B_ENST00000382140.2_Missense_Mutation_p.S290G	NM_001007537.1	NP_001007538.1	B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	290	C1q.					collagen				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						AGGACAATGCTGCCAGAGGCC	0.507													4	73					0	0	1	0	0	C	24465562	T	C	24465562	3	2	76	1	0	0	0	0	1	0	0	0	1984	1580	55	3	136	3	C1QTNF9B	13	24465562	Missense_Mutation	SNP	T	TCGA-EJ-7330-01A-11D-2114-08		24465562	90704316	39	3892											
ATP12A	479	broad.mit.edu	37	chr13	25255780	25255780	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagggggatggcaaggagaaGtataggggtctgaagaacaa	16	5	17	3	0	1	3	0	1	1	2	1	5	1	4	0	6	1	2	0	6	8	2			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr13:25255780G>T	ENST00000218548.6	+	2	423	c.90G>T	c.(88-90)aaG>aaT	p.K30N	ATP12A_ENST00000381946.3_Missense_Mutation_p.K30N	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	30					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	GCAAGGAGAAGTATAGGGGTC	0.473													9	67					0.38729	0.392823	1	1	0	T	25255780	G	T	25255780	3	4	76	1	0	0	0	0	1	0	0	0	1121	1020	36	4	96	4	ATP12A	13	25255780	Missense_Mutation	SNP	G	TCGA-EJ-7330-01A-11D-2114-08	790218	25255780	89914098	40	3893											
RB1	5925	broad.mit.edu	37	chr13	48934221	48934221	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctatgtgtccttgactatTttattaaactctcacctccc	8	17	4	12	0	1	1	1	1	1	0	4	1	3	1	3	0	2	1	3	0	5	6			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr13:48934221T>C	ENST00000267163.4	+	7	814	c.676T>C	c.(676-678)Ttt>Ctt	p.F226L		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	226					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(6)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCTTGACTATTTTATTAAACT	0.313		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			19	91					0	0	1	0	0	C	48934221	T	C	48934221	3	2	76	1	0	0	0	0	1	0	0	0	13150	1841	64	3	702	3	RB1	13	48934221	Missense_Mutation	SNP	T	TCGA-EJ-7330-01A-11D-2114-08	23678441	48934221	66235657	41	3894											
GPC6	10082	broad.mit.edu	37	chr13	94482577	94482577	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggaggaaatgctcaatgacTtttgggctcggctcctggaa	9	11	13	8	1	1	1	1	1	0	0	3	4	2	4	1	5	1	3	1	5	3	2			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr13:94482577T>C	ENST00000377047.4	+	3	1105	c.490T>C	c.(490-492)Ttt>Ctt	p.F164L	GPC6-AS2_ENST00000445540.1_RNA	NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	164						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				GCTCAATGACTTTTGGGCTCG	0.468													4	68					0	0	1	0	0	C	94482577	T	C	94482577	3	2	76	1	0	0	0	0	1	0	0	0	6642	1609	56	3	500	3	GPC6	13	94482577	Missense_Mutation	SNP	T	TCGA-EJ-7330-01A-11D-2114-08	45548356	94482577	20687301	42	3895											
COL4A2	1284	broad.mit.edu	37	chr13	111088622	111088622	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttaacaatatgcagggtgacGtagggcagccgggacccaac	12	6	13	10	2	0	1	0	1	0	0	0	2	0	2	2	3	4	3	2	3	5	3			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr13:111088622G>A	ENST00000360467.5	+	13	1039	c.733G>A	c.(733-735)Gta>Ata	p.V245I		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	245	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GCAGGGTGACGTAGGGCAGCC	0.478													7	53					0	0	1	0	0	A	111088622	G	A	111088622	3	1	76	1	0	0	0	0	1	0	0	0	3713	1145	40	1	779	1	COL4A2	13	111088622	Missense_Mutation	SNP	G	TCGA-EJ-7330-01A-11D-2114-08	16606045	111088622	4081256	43	3896											
CARS2	79587	broad.mit.edu	37	chr13	111358330	111358330	+	Frame_Shift_Del	DEL	C	C	-																															tgcagccaggcccgcccgcgCcccccgctcgccgcccggcc																										TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr13:111358330delC	ENST00000257347.4	-	1	174	c.111delG	c.(109-111)ggfs	p.G37fs	CARS2_ENST00000535398.1_Intron	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial (putative)	37					cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	cccgcccgcgccccccgctcg	0.781													2	4	---	---	---	---						-	111358330	C	-	111358330	7	5	76	1	0	1	0	1	0	0	0	0	2676	726	26	0	1643	0	CARS2	13	111358330	Frame_Shift_Del	DEL	C	TCGA-EJ-7330-01A-11D-2114-08	269708	111358330	3811548	44	3897											
FOXA1	3169	broad.mit.edu	37	chr14	38061231	38061231	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtagcagccgttctcgaacAtgttgccggagtccgggtgc	7	9	14	11	4	1	0	0	0	1	0	3	2	2	1	3	2	5	4	3	2	2	3			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr14:38061231A>G	ENST00000250448.2	-	2	819	c.758T>C	c.(757-759)aTg>aCg	p.M253T	FOXA1_ENST00000540786.1_Missense_Mutation_p.M220T|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	253					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	p.M253R(2)|p.M253K(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		GTTCTCGAACATGTTGCCGGA	0.687													4	28					0	0	1	0	0	G	38061231	A	G	38061231	3	3	76	1	0	0	0	0	1	0	0	0	6022	217	8	3	664	3	FOXA1	14	38061231	Missense_Mutation	SNP	A	TCGA-EJ-7330-01A-11D-2114-08		38061231	69288309	45	3898											
CATSPERB	79820	broad.mit.edu	37	chr14	92139267	92139267	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggtcaacaagaaatgttaGcacagttggaaaaattttta	16	13	8	4	0	1	1	1	0	0	1	1	2	1	2	0	2	2	3	0	2	7	6			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr14:92139267G>A	ENST00000256343.3	-	13	1228	c.1072C>T	c.(1072-1074)Cta>Tta	p.L358L		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	358					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				AGAAATGTTAGCACAGTTGGA	0.368													4	135					0	0	1	0	0	A	92139267	G	A	92139267	2	1	76	1	0	0	0	0	0	0	0	1	2709	962	34	2		2	CATSPERB	14	92139267	Silent	SNP	G	TCGA-EJ-7330-01A-11D-2114-08	54078036	92139267	15210273	46	3899											
MAP1A	4130	broad.mit.edu	37	chr15	43815432	43815432	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagggctgggacaagaagaAcatgtgatgaaggagaaaga	17	4	15	5	0	0	6	0	2	0	4	0	8	0	7	1	3	1	1	1	3	5	0			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr15:43815432A>G	ENST00000382031.1	+	5	2506	c.2475A>G	c.(2473-2475)gaA>gaG	p.E825E	MAP1A_ENST00000399453.1_Silent_p.E587E|MAP1A_ENST00000300231.5_Silent_p.E587E			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	587						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GACAAGAAGAACATGTGATGA	0.537													6	22					0	0	1	0	0	G	43815432	A	G	43815432	2	3	76	1	0	0	0	0	0	0	0	1	9277	40	2	3		3	MAP1A	15	43815432	Silent	SNP	A	TCGA-EJ-7330-01A-11D-2114-08		43815432	58715960	47	3900											
HAPLN3	145864	broad.mit.edu	37	chr15	89424631	89424631	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgctttcatcctccagcccGtcaatgacctcacagcggta	8	9	7	17	3	3	1	3	1	0	0	5	1	5	1	5	1	2	2	5	1	2	2			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr15:89424631G>A	ENST00000359595.3	-	3	664	c.450C>T	c.(448-450)gaC>gaT	p.D150D	HAPLN3_ENST00000562889.1_Silent_p.D212D	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	150	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)					CCTCCAGCCCGTCAATGACCT	0.627													30	98					0	0	1	0	0	A	89424631	G	A	89424631	2	1	76	1	0	0	0	0	0	0	0	1	6997	1136	40	1		1	HAPLN3	15	89424631	Silent	SNP	G	TCGA-EJ-7330-01A-11D-2114-08	45609199	89424631	13106761	48	3901											
PRR25	388199	broad.mit.edu	37	chr16	857600	857600	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgtcttctgtccctgcatttAgagaagggggatggcaaagg	9	10	14	8	1	2	1	0	0	2	1	3	3	3	2	1	4	1	2	1	4	3	3			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr16:857600A>C	ENST00000301698.1	+	2	597	c.597A>C	c.(595-597)ttA>ttC	p.L199F		NM_001013638.1	NP_001013660.1	Q96S07	PRR25_HUMAN	proline rich 25	199										large_intestine(1)|lung(1)|skin(1)	3						CCCTGCATTTAGAGAAGGGGG	0.701													5	52					0	0	1	0	0	C	857600	A	C	857600	3	2	76	1	0	0	0	0	1	0	0	0	12647	417	15	5	603	5	PRR25	16	857600	Missense_Mutation	SNP	A	TCGA-EJ-7330-01A-11D-2114-08		857600	89497153	49	3902											
EME2	197342	broad.mit.edu	37	chr16	1824298	1824300	+	In_Frame_Del	DEL	TGC	TGC	-																															ggctgcaggtgaacaggaatTgctgctgctgctggagcccg																										TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr16:1824298_1824300delTGC	ENST00000307394.7	+	3	422_424	c.422_424delTGC	c.(421-426)ttg>t	p.LL143del	EME2_ENST00000568449.1_In_Frame_Del_p.LL143del			A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	143					DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						GAACAGGAATTGCTGCTGCTGCT	0.655								Direct reversal of damage;Homologous recombination					8	205	---	---	---	---						-	1824300	TGC	-	1824298	7	5	76	1	0	1	0	1	0	0	0	0	5117	1821	63	0	432	0	EME2	16	1824298	In_Frame_Del	DEL	TGC	TCGA-EJ-7330-01A-11D-2114-08	966698	1824298	88530455	50	3903											
CCDC101	112869	broad.mit.edu	37	chr16	28597027	28597027	+	Frame_Shift_Del	DEL	A	A	-																															acaaccgccaaggccgatgcAgaggctgagtgcaagtgagt																										TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr16:28597027delA	ENST00000317058.3	+	4	397	c.210delA	c.(208-210)gcfs	p.A70fs		NM_138414.2	NP_612423.1	Q96ES7	SGF29_HUMAN	coiled-coil domain containing 101	70					establishment of protein localization to chromatin|histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|SAGA-type complex	methylated histone residue binding			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10						AGGCCGATGCAGAGGCTGAGT	0.607													21	93	---	---	---	---						-	28597027	A	-	28597027	7	5	76	1	0	1	0	1	0	0	0	0	2753	175	7	0	220	0	CCDC101	16	28597027	Frame_Shift_Del	DEL	A	TCGA-EJ-7330-01A-11D-2114-08	26772729	28597027	61757726	51	3904											
CDH11	1009	broad.mit.edu	37	chr16	65005959	65005959	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggactttggcttcctgatGccgattgtctgggaagacag	7	12	14	8	1	1	2	0	1	1	1	2	5	2	4	2	3	1	1	2	3	1	3			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr16:65005959G>T	ENST00000394156.3	-	10	1852	c.1399C>A	c.(1399-1401)Cat>Aat	p.H467N	CDH11_ENST00000566827.1_Missense_Mutation_p.H341N|CDH11_ENST00000268603.4_Missense_Mutation_p.H467N			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	467	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GCTTCCTGATGCCGATTGTCT	0.478			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			6	47					0.00307968	0.00326354	1	1	0	T	65005959	G	T	65005959	3	4	76	1	0	0	0	0	1	0	0	0	3119	1319	46	4	1007	4	CDH11	16	65005959	Missense_Mutation	SNP	G	TCGA-EJ-7330-01A-11D-2114-08	36408932	65005959	25348794	52	3905											
DPEP3	64180	broad.mit.edu	37	chr16	68010634	68010634	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcataatttccaccaatccCgatgaactcagatccaatga	14	10	5	12	1	2	3	2	2	0	1	5	4	5	3	4	0	1	0	4	0	4	2			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr16:68010634C>T	ENST00000268793.4	-	8	1511	c.1138G>A	c.(1138-1140)Ggg>Agg	p.G380R		NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	355					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		CCACCAATCCCGATGAACTCA	0.552													7	46					0	0	1	0	0	T	68010634	C	T	68010634	3	4	76	1	0	0	0	0	1	0	0	0	4742	652	23	1	415	1	DPEP3	16	68010634	Missense_Mutation	SNP	C	TCGA-EJ-7330-01A-11D-2114-08	3004675	68010634	22344119	53	3906											
THRA	7067	broad.mit.edu	37	chr17	38233836	38233836	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcaactggttatcactaccGctgtatcacttgtgagggct	8	12	11	10	1	2	1	2	1	0	0	2	1	2	1	1	3	2	5	1	3	4	4			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr17:38233836G>A	ENST00000450525.2	+	4	688	c.197G>A	c.(196-198)cGc>cAc	p.R66H	THRA_ENST00000546243.1_Missense_Mutation_p.R66H|THRA_ENST00000584985.1_Missense_Mutation_p.R66H|THRA_ENST00000264637.4_Missense_Mutation_p.R66H|THRA_ENST00000394121.4_Missense_Mutation_p.R66H	NM_199334.3	NP_955366.1	P10827	THA_HUMAN	thyroid hormone receptor, alpha	66					negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Levothyroxine(DB00451)|Liothyronine(DB00279)	TATCACTACCGCTGTATCACT	0.552													20	154					0	0	1	0	0	A	38233836	G	A	38233836	3	1	76	1	0	0	0	0	1	0	0	0	15933	1087	38	1	207	1	THRA	17	38233836	Missense_Mutation	SNP	G	TCGA-EJ-7330-01A-11D-2114-08		38233836	42961374	54	3907											
SPOP	8405	broad.mit.edu	37	chr17	47696424	47696424	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctacggatgaatttcttGaatccccagtctttgccttg	7	16	7	11	1	3	2	0	2	3	0	5	3	4	3	3	1	2	0	3	1	3	5			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr17:47696424G>T	ENST00000393331.3	-	7	869	c.399C>A	c.(397-399)ttC>ttA	p.F133L	SPOP_ENST00000503676.1_Missense_Mutation_p.F133L|SPOP_ENST00000393328.2_Missense_Mutation_p.F133L|SPOP_ENST00000347630.2_Missense_Mutation_p.F133L|SPOP_ENST00000504102.1_Missense_Mutation_p.F133L	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	133	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.F133L(7)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TGAATTTCTTGAATCCCCAGT	0.448										Prostate(2;0.17)			15	135					1.15919e-05	1.247e-05	1	1	0	T	47696424	G	T	47696424	3	4	76	1	0	0	0	0	1	0	0	0	15140	1281	45	4	749	4	SPOP	17	47696424	Missense_Mutation	SNP	G	TCGA-EJ-7330-01A-11D-2114-08	9462588	47696424	33498786	55	3908											
CDC37	11140	broad.mit.edu	37	chr19	10506785	10506785	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccagctccttcagtttcCtctggcactcggccaccttg	4	12	7	18	1	2	0	1	0	1	0	6	0	5	0	6	2	1	3	6	2	0	3			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr19:10506785C>G	ENST00000222005.2	-	2	250	c.197G>C	c.(196-198)aGg>aCg	p.R66T		NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	cell division cycle 37	66					protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		CTTCAGTTTCCTCTGGCACTC	0.677													27	122					0	0	1	0	0	G	10506785	C	G	10506785	3	3	76	1	0	0	0	0	1	0	0	0	3090	681	24	4	967	4	CDC37	19	10506785	Missense_Mutation	SNP	C	TCGA-EJ-7330-01A-11D-2114-08		10506785	48622198	56	3909											
NPHS1	4868	broad.mit.edu	37	chr19	36333346	36333346	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cattgtccacaatgcactggTaagcgccagcctgggccagt	9	8	11	13	1	0	0	0	0	0	0	1	0	1	0	4	2	3	2	4	2	2	2			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr19:36333346T>G	ENST00000378910.5	-	18	2440	c.2441A>C	c.(2440-2442)tAc>tCc	p.Y814S	NPHS1_ENST00000353632.6_Missense_Mutation_p.Y814S	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	814	Ig-like C2-type 7.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AATGCACTGGTAAGCGCCAGC	0.582													19	103					0	0	1	0	0	G	36333346	T	G	36333346	3	3	76	1	0	0	0	0	1	0	0	0	10629	1638	57	5	1332	5	NPHS1	19	36333346	Missense_Mutation	SNP	T	TCGA-EJ-7330-01A-11D-2114-08	25826561	36333346	22795637	57	3910											
ZCCHC3	85364	broad.mit.edu	37	chr20	279150	279150	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcgagctgcgccagggggAgggcggggtcaggcacttgc	6	5	20	10	3	1	0	1	0	0	0	2	3	1	1	1	6	3	2	1	6	0	1			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr20:279150A>G	ENST00000382352.3	+	1	1414	c.923A>G	c.(922-924)gAg>gGg	p.E308G		NM_033089.6	NP_149080.2	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	308							nucleic acid binding|zinc ion binding			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)			CGCCAGGGGGAGGGCGGGGTC	0.632													3	111					0	0	1	0	0	G	279150	A	G	279150	3	3	76	1	0	0	0	0	1	0	0	0	17647	304	11	3	925	3	ZCCHC3	20	279150	Missense_Mutation	SNP	A	TCGA-EJ-7330-01A-11D-2114-08		279150	62746370	58	3911											
ANGPT4	51378	broad.mit.edu	37	chr20	861826	861826	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccctaaccttcctgggcttCgttgcattggacacctggat	6	12	9	14	1	0	0	0	0	0	0	2	2	1	2	5	3	2	3	5	3	1	5			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr20:861826C>T	ENST00000381922.3	-	5	1041	c.939G>A	c.(937-939)acG>acA	p.T313T	ANGPT4_ENST00000546022.1_Silent_p.T313T	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	313	Fibrinogen C-terminal.				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						TCCTGGGCTTCGTTGCATTGG	0.597													9	32					0	0	1	0	0	T	861826	C	T	861826	2	4	76	1	0	0	0	0	0	0	0	1	608	871	31	1		1	ANGPT4	20	861826	Silent	SNP	C	TCGA-EJ-7330-01A-11D-2114-08	582676	861826	62163694	59	3912											
TGM6	343641	broad.mit.edu	37	chr20	2380266	2380266	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcagggcaagtacggcggCggcaccagcccgctgcactg	7	4	16	14	4	0	0	0	0	0	0	0	0	0	0	2	5	3	6	2	5	2	1			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr20:2380266C>T	ENST00000202625.2	+	6	793	c.732C>T	c.(730-732)ggC>ggT	p.G244G	TGM6_ENST00000477505.1_3'UTR|TGM6_ENST00000381423.1_Silent_p.G244G	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	244					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	AGTACGGCGGCGGCACCAGCC	0.647													6	71					0	0	1	0	0	T	2380266	C	T	2380266	2	4	76	1	0	0	0	0	0	0	0	1	15894	755	27	1		1	TGM6	20	2380266	Silent	SNP	C	TCGA-EJ-7330-01A-11D-2114-08	1518440	2380266	60645254	60	3913											
BMP7	655	broad.mit.edu	37	chr20	55746142	55746142	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacagcagggcttgggcaccGtttccgggttgatgaagtgg	7	9	16	9	2	0	2	0	2	0	0	1	2	1	2	2	4	1	5	2	4	1	3			TCGA-EJ-7330-01A-11D-2114-08	TCGA-EJ-7330-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	478b235e-7e7f-4dbb-810b-44a50240b359	30f84a45-9998-47d3-87da-030f357d928e	g.chr20:55746142G>A	ENST00000395863.3	-	7	1674	c.1169C>T	c.(1168-1170)aCg>aTg	p.T390M	BMP7_ENST00000460817.1_5'UTR|BMP7_ENST00000395864.3_Missense_Mutation_p.T324M	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	390					BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			CTTGGGCACCGTTTCCGGGTT	0.517													4	70					0	0	1	0	0	A	55746142	G	A	55746142	3	1	76	1	0	0	0	0	1	0	0	0	1464	1145	40	1	130	1	BMP7	20	55746142	Missense_Mutation	SNP	G	TCGA-EJ-7330-01A-11D-2114-08	53365876	55746142	7279378	61	3914											
DFFA	1676	broad.mit.edu	37	chr1	10523170	10523170	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgcttctccctcagtgcaGtaaggatgtggctcgccagc	6	10	11	14	1	2	0	1	0	1	0	4	1	2	1	3	2	3	4	3	2	1	2			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr1:10523170G>A	ENST00000377038.3	-	5	795	c.728C>T	c.(727-729)aCt>aTt	p.T243I	DFFA_ENST00000377036.2_Missense_Mutation_p.T243I	NM_004401.2	NP_004392.1	O00273	DFFA_HUMAN	DNA fragmentation factor, 45kDa, alpha polypeptide	243					DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction|negative regulation of apoptosis	cytosol|mitochondrion|nucleoplasm|plasma membrane	deoxyribonuclease activity|identical protein binding			large_intestine(3)|lung(2)	5	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		CCTCAGTGCAGTAAGGATGTG	0.577													4	75					0	0	0.001168	0	0	A	10523170	G	A	10523170	3	1	77	1	0	0	0	0	1	0	0	0	4480	1029	36	2	299	2	DFFA	1	10523170	Missense_Mutation	SNP	G	TCGA-EJ-7331-01A-11D-2114-08		10523170	238727451	1	3915											
SPEN	23013	broad.mit.edu	37	chr1	16265833	16265834	+	Frame_Shift_Del	DEL	GA	GA	-																															tcccgccctgtgagttctctGagagtcacctgtcccgcctg																										TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr1:16265833_16265834delGA	ENST00000375759.3	+	15	11110_11111	c.10906_10907delGA	c.(10906-10908)gfs	p.E3636fs		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3636	SPOC.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TGAGTTCTCTGAGAGTCACCTG	0.584													80	347	---	---	---	---						-	16265834	GA	-	16265833	7	5	77	1	0	1	0	1	0	0	0	0	15094	1291	45	0	10964	0	SPEN	1	16265833	Frame_Shift_Del	DEL	GA	TCGA-EJ-7331-01A-11D-2114-08	5742663	16265833	232984788	2	3916											
RNF220	55182	broad.mit.edu	37	chr1	44878184	44878184	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atcagtcagcctttacgccgGccaagcgacttaagaactgc	11	8	9	13	3	2	1	2	0	0	1	2	2	2	1	3	1	5	0	3	1	4	3			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr1:44878184G>A	ENST00000355387.2	+	2	865	c.415G>A	c.(415-417)Gcc>Acc	p.A139T	RNF220_ENST00000372247.2_Missense_Mutation_p.A139T|RNF220_ENST00000361799.2_Missense_Mutation_p.A139T			Q5VTB9	RN220_HUMAN	ring finger protein 220	139					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						CTTTACGCCGGCCAAGCGACT	0.547													4	118					0	0	0.000248	0	0	A	44878184	G	A	44878184	3	1	77	1	0	0	0	0	1	0	0	0	13535	1203	42	2	417	2	RNF220	1	44878184	Missense_Mutation	SNP	G	TCGA-EJ-7331-01A-11D-2114-08	28612351	44878184	204372437	3	3917											
KCNK3	3777	broad.mit.edu	37	chr2	26950776	26950776	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacgctgtgcatcggcgcCgccgccttctcccactacga	6	7	10	18	6	1	0	0	0	1	0	3	1	1	0	4	1	3	3	4	1	1	2			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr2:26950776C>T	ENST00000302909.3	+	2	650	c.525C>T	c.(523-525)gcC>gcT	p.A175A		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	175					synaptic transmission	integral to plasma membrane				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCATCGGCGCCGCCGCCTTCT	0.637													7	37					0	0	0.00308	0	0	T	26950776	C	T	26950776	2	4	77	1	0	0	0	0	0	0	0	1	8111	639	23	1		1	KCNK3	2	26950776	Silent	SNP	C	TCGA-EJ-7331-01A-11D-2114-08		26950776	216248597	4	3918											
SCN9A	6335	broad.mit.edu	37	chr2	167089856	167089856	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtattttcttaccctcatTccttcaaatctagataaggc	11	16	4	10	0	4	1	2	0	2	1	5	1	5	1	2	1	1	1	2	1	6	9			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr2:167089856T>A	ENST00000303354.6	-	21	4261	c.3921A>T	c.(3919-3921)ggA>ggT	p.G1307G	SCN9A_ENST00000409672.1_Silent_p.G1295G|SCN9A_ENST00000375387.4_Silent_p.G1307G|SCN9A_ENST00000409435.1_Silent_p.G1306G|AC010127.3_ENST00000447809.2_RNA			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1306						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TTACCCTCATTCCTTCAAATC	0.343													4	8					0	0	0.000248	0	0	A	167089856	T	A	167089856	2	1	77	1	0	0	0	0	0	0	0	1	13979	1770	62	5		5	SCN9A	2	167089856	Silent	SNP	T	TCGA-EJ-7331-01A-11D-2114-08	140139080	167089856	76109517	5	3919											
ABCC5	10057	broad.mit.edu	37	chr3	183667559	183667559	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acctgtgcagaaactcctgcCctttattgtaggcgtggatg	8	12	11	10	1	0	1	0	0	0	1	1	2	1	2	3	2	3	2	3	2	3	4			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr3:183667559C>T	ENST00000334444.6	-	22	3449	c.3209G>A	c.(3208-3210)gGg>gAg	p.G1070E	ABCC5_ENST00000265586.6_Intron	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1070	ABC transmembrane type-1 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			AAACTCCTGCCCTTTATTGTA	0.562													11	35					0	0	0.001368	0	0	T	183667559	C	T	183667559	3	4	77	1	0	0	0	0	1	0	0	0	56	623	22	2	1140	2	ABCC5	3	183667559	Missense_Mutation	SNP	C	TCGA-EJ-7331-01A-11D-2114-08		183667559	14354871	6	3920											
FLT4	2324	broad.mit.edu	37	chr5	180057599	180057599	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggccgtggtgccctcgatgCgtgccttgatgtacttgtag	4	12	14	11	4	0	1	0	1	0	0	1	2	0	1	3	2	4	2	3	2	2	4			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr5:180057599C>T	ENST00000261937.6	-	3	434	c.356G>A	c.(355-357)cGc>cAc	p.R119H	FLT4_ENST00000502649.1_Missense_Mutation_p.R119H|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Missense_Mutation_p.R119H	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	119	Ig-like C2-type 1.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GCCCTCGATGCGTGCCTTGAT	0.637													11	42					0	0	0.001855	0	0	T	180057599	C	T	180057599	3	4	77	1	0	0	0	0	1	0	0	0	5977	768	27	1	3855	1	FLT4	5	180057599	Missense_Mutation	SNP	C	TCGA-EJ-7331-01A-11D-2114-08		180057599	857661	7	3921											
HDGFL1	154150	broad.mit.edu	37	chr6	22570346	22570347	+	In_Frame_Ins	INS	-	-	GGC																															agggcggcggaagcggagagINSggcggcggcggcggcggcgg																										TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr6:22570346_22570347insGGC	ENST00000510882.2	+	1	552_553	c.542_543insGGC	c.(541-543)agc>aGGCgc	p.181_181S>RR	HDGFL1_ENST00000230012.3_In_Frame_Ins_p.181_181S>RR			Q5TGJ6	HDGL1_HUMAN	hepatoma derived growth factor-like 1	181	Ala-rich.|Glu-rich.									kidney(1)|large_intestine(3)|lung(7)	11	Ovarian(93;0.163)					gaagcggagagggcggcggcgg	0.767													3	6	---	---	---	---						GGC	22570347	-	GGC	22570346	7	5	77	1	0	1	1	0	0	0	0	0	7060	1000	35	0	544	0	HDGFL1	6	22570346	In_Frame_Ins	INS	-	TCGA-EJ-7331-01A-11D-2114-08		22570346	148544721	8	3922											
TCF21	0	broad.mit.edu	37	chr6	134212927	134212927	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgcgagccgcttatgtggaaCcaccgcgtcctgaccttgga	7	8	12	14	5	0	1	0	1	0	0	1	4	1	3	5	2	2	1	5	2	2	2			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr6:134212927C>G	ENST00000367882.4	+	2	787	c.527C>G	c.(526-528)aCc>aGc	p.T176S	TCF21_ENST00000237316.3_Missense_Mutation_p.T176S|RP3-323P13.2_ENST00000607573.1_RNA	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN	transcription factor 21	176					branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		TTATGTGGAACCACCGCGTCC	0.657													5	41					0	0	0.001168	0	0	G	134212927	C	G	134212927	3	3	77	1	0	0	0	0	1	0	0	0	15751	507	18	4	533	4	TCF21	6	134212927	Missense_Mutation	SNP	C	TCGA-EJ-7331-01A-11D-2114-08	111642581	134212927	36902140	9	3923											
HDAC9	9734	broad.mit.edu	37	chr7	18687446	18687446	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaaagcagaagtgtgagacGcagacgcttaggcaaggtgt	14	6	15	6	2	0	3	0	1	0	3	0	5	0	3	0	2	1	4	0	2	5	1			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr7:18687446G>A	ENST00000406451.3	+	10	1215	c.1065G>A	c.(1063-1065)acG>acA	p.T355T	HDAC9_ENST00000432645.2_Silent_p.T355T|HDAC9_ENST00000417496.2_Silent_p.T353T|HDAC9_ENST00000456174.2_Silent_p.T327T|HDAC9_ENST00000441542.2_Silent_p.T358T|HDAC9_ENST00000406072.1_Silent_p.T342T|HDAC9_ENST00000428307.2_Silent_p.T311T|HDAC9_ENST00000405010.3_Silent_p.T355T|HDAC9_ENST00000401921.1_Silent_p.T314T|HDAC9_ENST00000524023.1_Silent_p.T278T	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	355					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	AGTGTGAGACGCAGACGCTTA	0.493													5	12					0	0	0.001168	0	0	A	18687446	G	A	18687446	2	1	77	1	0	0	0	0	0	0	0	1	7055	1074	38	1		1	HDAC9	7	18687446	Silent	SNP	G	TCGA-EJ-7331-01A-11D-2114-08		18687446	140451217	10	3924											
DYNC1I1	1780	broad.mit.edu	37	chr7	95705500	95705500	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctctggaacctcaacaaTgacaccgaggtgagcggcgg	11	5	13	12	3	2	2	1	2	1	0	2	5	2	3	3	4	3	0	3	4	3	0			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr7:95705500T>C	ENST00000324972.6	+	15	1885	c.1692T>C	c.(1690-1692)aaT>aaC	p.N564N	DYNC1I1_ENST00000537881.1_Silent_p.N527N|DYNC1I1_ENST00000359388.4_Silent_p.N527N|DYNC1I1_ENST00000447467.2_Silent_p.N547N|DYNC1I1_ENST00000457059.1_Silent_p.N547N|DYNC1I1_ENST00000437599.1_Silent_p.N544N	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	564					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			ACCTCAACAATGACACCGAGG	0.642											OREG0018174	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	20					0	0	0.000978	0	0	C	95705500	T	C	95705500	2	2	77	1	0	0	0	0	0	0	0	1	4868	1461	51	3		3	DYNC1I1	7	95705500	Silent	SNP	T	TCGA-EJ-7331-01A-11D-2114-08	77018054	95705500	63433163	11	3925											
ADAM18	8749	broad.mit.edu	37	chr8	39525629	39525629	+	Missense_Mutation	SNP	G	G	T																															tgacacttatgcattgaatgGccgtttgtgcaagttgggaa																										TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr8:39525629G>T	ENST00000265707.5	+	14	1484	c.1439G>T	c.(1438-1440)gGc>gTc	p.G480V	ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Missense_Mutation_p.G456V	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	480	Cys-rich.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			GCATTGAATGGCCGTTTGTGC	0.408													52	203					2.40265e-35	3.67464e-35	0.00361	1	0	T	39525629	G	T	39525629	3	4	77	1	0	0	0	0	1	0	0	0	238	1203	42	4	1493	4	ADAM18	8	39525629	Missense_Mutation	SNP	G	TCGA-EJ-7331-01A-11D-2114-08		39525629	106838393	12	3926	19	2									
ADAM18	8749	broad.mit.edu	37	chr8	39525630	39525630	+	Silent	SNP	C	C	T																															gacacttatgcattgaatggCcgtttgtgcaagttgggaac																										TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr8:39525630C>T	ENST00000265707.5	+	14	1485	c.1440C>T	c.(1438-1440)ggC>ggT	p.G480G	ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Silent_p.G456G	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	480	Cys-rich.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CATTGAATGGCCGTTTGTGCA	0.403													55	201					0	0	0.00361	0	0	T	39525630	C	T	39525630	2	4	77	1	0	0	0	0	0	0	0	1	238	726	26	2		2	ADAM18	8	39525630	Silent	SNP	C	TCGA-EJ-7331-01A-11D-2114-08	1	39525630	106838392	13	3927	19	2									
KCNB2	9312	broad.mit.edu	37	chr8	73849007	73849007	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtggctgttgagaaggccGgagagtccgccaacacaaag	12	6	14	9	2	0	2	0	1	0	2	1	4	1	2	3	3	1	2	3	3	3	1			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr8:73849007G>A	ENST00000523207.1	+	3	2005	c.1417G>A	c.(1417-1419)Gga>Aga	p.G473R		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	473					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TGAGAAGGCCGGAGAGTCCGC	0.527													28	102					0	0	0.008361	0	0	A	73849007	G	A	73849007	3	1	77	1	0	0	0	0	1	0	0	0	8057	1117	39	1	1423	1	KCNB2	8	73849007	Missense_Mutation	SNP	G	TCGA-EJ-7331-01A-11D-2114-08	34323377	73849007	72515015	14	3928											
BICD2	23299	broad.mit.edu	37	chr9	95477650	95477650	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcgccagcttctgctggatgGccatgcgcagcagcgagttc	6	8	14	13	3	1	0	0	0	1	0	2	2	1	1	2	2	5	5	2	2	0	2			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr9:95477650G>C	ENST00000356884.6	-	7	2421	c.2354C>G	c.(2353-2355)gCc>gGc	p.A785G	BICD2_ENST00000375512.3_Missense_Mutation_p.A785G	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	785	Interacts with RAB6A (By similarity).				microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						CTGCTGGATGGCCATGCGCAG	0.637													13	16					0	0	0.001368	0	0	C	95477650	G	C	95477650	3	2	77	1	0	0	0	0	1	0	0	0	1428	1203	42	4	227	4	BICD2	9	95477650	Missense_Mutation	SNP	G	TCGA-EJ-7331-01A-11D-2114-08		95477650	45735781	15	3929											
SFMBT2	57713	broad.mit.edu	37	chr10	7212995	7212997	+	In_Frame_Del	DEL	CTC	CTC	-																															ttgctctccagaaccagtctCtcctcctcctcctgtttcgt																										TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr10:7212995_7212997delCTC	ENST00000361972.4	-	20	2527_2529	c.2437_2439delGAG	c.(2437-2439)del	p.E813del	SFMBT2_ENST00000397167.1_In_Frame_Del_p.E813del	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	813					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						GAACCAGTCTCTCCTCCTCCTCC	0.596													7	273	---	---	---	---						-	7212997	CTC	-	7212995	7	5	77	1	0	1	0	1	0	0	0	0	14212	912	32	0	253	0	SFMBT2	10	7212995	In_Frame_Del	DEL	CTC	TCGA-EJ-7331-01A-11D-2114-08		7212995	128321752	16	3930											
TACC2	10579	broad.mit.edu	37	chr10	123843719	123843719	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagccgtggctaaagaaggAagcagatcacctggtgacag	13	5	13	10	1	1	3	1	1	0	2	1	4	1	4	3	3	2	2	3	3	4	1			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr10:123843719A>T	ENST00000369005.1	+	4	2044	c.1704A>T	c.(1702-1704)ggA>ggT	p.G568G	TACC2_ENST00000358010.1_Intron|TACC2_ENST00000334433.3_Silent_p.G568G|TACC2_ENST00000515603.1_Silent_p.G568G|TACC2_ENST00000515273.1_Silent_p.G568G|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Silent_p.G568G	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	568						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CTAAAGAAGGAAGCAGATCAC	0.592													13	27					0	0	0.004007	0	0	T	123843719	A	T	123843719	2	4	77	1	0	0	0	0	0	0	0	1	15559	233	9	5		5	TACC2	10	123843719	Silent	SNP	A	TCGA-EJ-7331-01A-11D-2114-08	116630724	123843719	11691028	17	3931											
OR2AG2	338755	broad.mit.edu	37	chr11	6789258	6789258	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctagagcgtggaatgtgccaGcagtatgtattttcccagga	10	11	12	8	1	0	1	0	0	0	1	1	3	1	3	2	2	3	3	2	2	4	5			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr11:6789258G>A	ENST00000338569.2	-	1	1028	c.931C>T	c.(931-933)Ctg>Ttg	p.L311L		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GAATGTGCCAGCAGTATGTAT	0.483													3	79					0	0	0.004672	0	0	A	6789258	G	A	6789258	2	1	77	1	0	0	0	0	0	0	0	1	11033	962	34	2		2	OR2AG2	11	6789258	Silent	SNP	G	TCGA-EJ-7331-01A-11D-2114-08		6789258	128217258	18	3932											
PCF11	51585	broad.mit.edu	37	chr11	82877716	82877716	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaactggcaaagttccaagTctgccaaaagatggaaatct	17	8	8	8	0	2	1	0	0	2	1	3	2	3	2	2	2	2	2	2	2	7	1			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr11:82877716T>A	ENST00000298281.4	+	5	2229	c.1777T>A	c.(1777-1779)Tct>Act	p.S593T		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	593					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						AAGTTCCAAGTCTGCCAAAAG	0.363													24	72					0	0	0.008361	0	0	A	82877716	T	A	82877716	3	1	77	1	0	0	0	0	1	0	0	0	11620	1667	58	5	1795	5	PCF11	11	82877716	Missense_Mutation	SNP	T	TCGA-EJ-7331-01A-11D-2114-08	76088458	82877716	52128800	19	3933											
LRP6	4040	broad.mit.edu	37	chr12	12397551	12397551	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttgtagcatcaaccaatcGcaagtcccgtctgtttgcat	10	13	7	11	2	2	0	1	0	1	0	4	0	3	0	2	0	3	5	2	0	4	3			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr12:12397551G>T	ENST00000261349.4	-	2	170	c.94C>A	c.(94-96)Cga>Aga	p.R32R	LRP6_ENST00000543091.1_Silent_p.R32R	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	32	Beta-propeller 1.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	p.R32*(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TCAACCAATCGCAAGTCCCGT	0.413													11	44					0.00244969	0.00353845	0.00245	1	0	T	12397551	G	T	12397551	2	4	77	1	0	0	0	0	0	0	0	1	9007	1095	38	4		4	LRP6	12	12397551	Silent	SNP	G	TCGA-EJ-7331-01A-11D-2114-08		12397551	121454344	20	3934											
MLEC	9761	broad.mit.edu	37	chr12	121125148	121125150	+	In_Frame_Del	DEL	CTG	CTG	-																															ccgctgtggcgctcctgcgaCtgctgctgctgctgctgccg																										TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	3e1ebe7d-89ed-4a54-b352-728fd861dce1	g.chr12:121125148_121125150delCTG	ENST00000228506.3	+	1	477_479	c.49_51delCTG	c.(49-51)del	p.L22del	MLEC_ENST00000412616.2_In_Frame_Del_p.L22del	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN	malectin	22					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						gctcctgcgactgctgctgctgc	0.783													2	4	---	---	---	---						-	121125150	CTG	-	121125148	7	5	77	1	0	1	0	1	0	0	0	0	9661	564	20	0	51	0	MLEC	12	121125148	In_Frame_Del	DEL	CTG	TCGA-EJ-7331-01A-11D-2114-08	108727597	121125148	12726747	21	3935											
CCDC88C	440193	broad.mit.edu	37	chr14	91739301	91739303	+	In_Frame_Del	DEL	CAG	CAG	-																															ctgggagttgctgccactgcCagcagcagcagcaccagcac																										TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr14:91739301_91739303delCAG	ENST00000389857.6	-	30	5839_5841	c.5753_5755delCTG	c.(5752-5757)ggc>g	p.AG1918del	CCDC88C_ENST00000331194.7_In_Frame_Del_p.AG442del	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1918					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CTGCCACTGCCAGCAGCAGCAGC	0.69													2	4	---	---	---	---						-	91739303	CAG	-	91739301	7	5	77	1	0	1	0	1	0	0	0	0	2885	594	21	0	335	0	CCDC88C	14	91739301	In_Frame_Del	DEL	CAG	TCGA-EJ-7331-01A-11D-2114-08		91739301	15610239	22	3936											
KRTAP9-9	81870	broad.mit.edu	37	chr17	39412068	39412068	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccctgctgccgccccgcctGctgtgagaccacctgctgca	4	7	11	19	2	0	1	0	1	0	1	0	2	0	1	7	0	5	4	7	0	0	0			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr17:39412068G>A	ENST00000394008.1	+	1	433	c.431G>A	c.(430-432)tGc>tAc	p.C144Y		NM_030975.2	NP_112237.2	B5MDD6	B5MDD6_HUMAN	keratin associated protein 9-9	144						keratin filament				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CGCCCCGCCTGCTGTGAGACC	0.612													7	251					0	0	0.001984	0	0	A	39412068	G	A	39412068	3	1	77	1	0	0	0	0	1	0	0	0	8616	1319	46	2	433	2	KRTAP9-9	17	39412068	Missense_Mutation	SNP	G	TCGA-EJ-7331-01A-11D-2114-08		39412068	41783142	23	3937											
NKIRAS2	28511	broad.mit.edu	37	chr17	40175835	40175835	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctttgtctacttggccagcaAgatgacgcaaccccagagca	11	8	9	13	1	1	3	0	1	1	2	1	3	1	3	3	1	4	3	3	1	3	3			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr17:40175835A>G	ENST00000307641.5	+	4	1121	c.500A>G	c.(499-501)aAg>aGg	p.K167R	NKIRAS2_ENST00000393881.3_Missense_Mutation_p.K167R|NKIRAS2_ENST00000479407.1_3'UTR|NKIRAS2_ENST00000462043.2_3'UTR|NKIRAS2_ENST00000449471.4_Missense_Mutation_p.K111R|NKIRAS2_ENST00000393880.1_Missense_Mutation_p.K167R|NKIRAS2_ENST00000316082.4_Missense_Mutation_p.K205R|NKIRAS2_ENST00000393884.2_Missense_Mutation_p.K165R|NKIRAS2_ENST00000393885.4_Missense_Mutation_p.K167R	NM_001001349.2	NP_001001349.1	Q9NYR9	KBRS2_HUMAN	NFKB inhibitor interacting Ras-like 2	167	Small GTPase-like.				I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity			large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	9		all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319)				TTGGCCAGCAAGATGACGCAA	0.612													5	71					0	0	0.000602	0	0	G	40175835	A	G	40175835	3	3	77	1	0	0	0	0	1	0	0	0	10492	72	3	3	510	3	NKIRAS2	17	40175835	Missense_Mutation	SNP	A	TCGA-EJ-7331-01A-11D-2114-08	763767	40175835	41019375	24	3938											
BPTF	2186	broad.mit.edu	37	chr17	65942002	65942002	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcccaaggccagccacagtCacaaccccaggtacagtctt	11	7	7	16	0	2	0	1	0	1	0	3	0	3	0	5	2	3	1	5	2	3	3			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr17:65942002C>T	ENST00000321892.4	+	23	7617	c.7556C>T	c.(7555-7557)tCa>tTa	p.S2519L	BPTF_ENST00000424123.3_Missense_Mutation_p.S2380L|BPTF_ENST00000306378.6_Missense_Mutation_p.S2393L|BPTF_ENST00000335221.5_Missense_Mutation_p.S2519L			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2519					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CAGCCACAGTCACAACCCCAG	0.453													5	88					0	0	0.001168	0	0	T	65942002	C	T	65942002	3	4	77	1	0	0	0	0	1	0	0	0	1497	838	29	2	7646	2	BPTF	17	65942002	Missense_Mutation	SNP	C	TCGA-EJ-7331-01A-11D-2114-08	25766167	65942002	15253208	25	3939											
UBE2O	63893	broad.mit.edu	37	chr17	74396560	74396560	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgatgacagagggtgggggGctgacgctgtccgtgccccc	5	7	18	11	2	0	4	0	3	0	1	1	4	1	4	3	4	1	2	3	4	0	0			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr17:74396560G>A	ENST00000319380.7	-	7	1030	c.966C>T	c.(964-966)agC>agT	p.S322S		NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	322							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						AGGGTGGGGGGCTGACGCTGT	0.607													7	35					0	0	0.006214	0	0	A	74396560	G	A	74396560	2	1	77	1	0	0	0	0	0	0	0	1	16929	1194	42	2		2	UBE2O	17	74396560	Silent	SNP	G	TCGA-EJ-7331-01A-11D-2114-08	8454558	74396560	6798650	26	3940											
TRIP10	9322	broad.mit.edu	37	chr19	6750305	6750305	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtcccctcctcccaggcGtggctggcagaagctgaaag	7	7	12	15	1	0	2	0	1	0	1	3	2	3	2	5	3	1	3	5	3	2	0			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr19:6750305G>A	ENST00000600428.1	+	12	1552	c.906G>A	c.(904-906)gcG>gcA	p.A302A	TRIP10_ENST00000596758.1_Silent_p.A410A|TRIP10_ENST00000313285.8_Silent_p.A410A|TRIP10_ENST00000313244.9_Silent_p.A466A|CTD-3128G10.6_ENST00000594056.1_RNA			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	466	Interaction with CDC42.|Interaction with PDE6G (By similarity).				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						CCTCCCAGGCGTGGCTGGCAG	0.667													30	145					0	0	0.004878	0	0	A	6750305	G	A	6750305	2	1	77	1	0	0	0	0	0	0	0	1	16615	1132	40	1		1	TRIP10	19	6750305	Silent	SNP	G	TCGA-EJ-7331-01A-11D-2114-08		6750305	52378678	27	3941											
ZNF846	162993	broad.mit.edu	37	chr19	9868372	9868372	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catattaagatttgtggaacGagcaaatgctttaccgcatt	13	13	8	7	2	0	1	0	0	0	1	0	3	0	2	1	1	4	3	1	1	5	6			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr19:9868372G>A	ENST00000397902.2	-	6	1794	c.1381C>T	c.(1381-1383)Cgt>Tgt	p.R461C	ZNF846_ENST00000588267.1_Intron|ZNF846_ENST00000586293.1_3'UTR|ZNF846_ENST00000592859.1_Intron	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	461					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						TTTGTGGAACGAGCAAATGCT	0.433													13	62					0	0	0.001855	0	0	A	9868372	G	A	9868372	3	1	77	1	0	0	0	0	1	0	0	0	18236	1058	37	1	224	1	ZNF846	19	9868372	Missense_Mutation	SNP	G	TCGA-EJ-7331-01A-11D-2114-08	3118067	9868372	49260611	28	3942											
PIK3R2	5296	broad.mit.edu	37	chr19	18277058	18277058	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagactcaagagaaatgcaGcaaggaatacctggagcgct	15	5	11	10	1	1	2	1	0	0	2	1	5	1	4	2	2	4	3	2	2	5	1			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr19:18277058G>A	ENST00000593731.1	+	12	2065	c.1505G>A	c.(1504-1506)aGc>aAc	p.S502N	PIK3R2_ENST00000222254.7_Missense_Mutation_p.S502N			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	502					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						GAGAAATGCAGCAAGGAATAC	0.562													3	49					0	0	0.004672	0	0	A	18277058	G	A	18277058	3	1	77	1	0	0	0	0	1	0	0	0	11967	971	34	2	1547	2	PIK3R2	19	18277058	Missense_Mutation	SNP	G	TCGA-EJ-7331-01A-11D-2114-08	8408686	18277058	40851925	29	3943											
TRPM4	54795	broad.mit.edu	37	chr19	49700013	49700013	+	Frame_Shift_Del	DEL	G	G	-																															gcgggggcagcctcgccagcGggggccccgggcctggccat																										TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr19:49700013delG	ENST00000252826.5	+	17	2653	c.2527delG	c.(2527-2529)ggfs	p.G844fs	TRPM4_ENST00000427978.2_Intron|TRPM4_ENST00000355712.5_Frame_Shift_Del_p.G490fs	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	844					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CCTCGCCAGCGGGGGCCCCGG	0.697													2	4	---	---	---	---						-	49700013	G	-	49700013	7	5	77	1	0	1	0	1	0	0	0	0	16649	1116	39	0	2593	0	TRPM4	19	49700013	Frame_Shift_Del	DEL	G	TCGA-EJ-7331-01A-11D-2114-08	31422955	49700013	9428970	30	3944											
ZNF761	388561	broad.mit.edu	37	chr19	53958820	53958820	+	RNA	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttcatactggagagaaaccTtacaagtgtaatgagtgtgg	13	11	11	6	0	1	2	1	1	0	1	1	4	1	3	1	2	3	1	1	2	5	4			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr19:53958820T>C	ENST00000454407.1	+	0	1512							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		GAGAGAAACCTTACAAGTGTA	0.408													4	241					0	0	0.000602	0	0	C	53958820	T	C	53958820	1	2	77	0	1	0	0	0	0	0	0	0	18186	1596	56	3		3	ZNF761	19	53958820	RNA	SNP	T	TCGA-EJ-7331-01A-11D-2114-08	4258807	53958820	5170163	31	3945											
ASXL1	171023	broad.mit.edu	37	chr20	31024752	31024752	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggacttgcccttctggaaaTtaccccgagagccagggaag	10	8	12	11	1	1	1	0	0	1	1	1	5	1	4	4	3	3	0	4	3	3	3			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr20:31024752T>G	ENST00000375687.4	+	13	4661	c.4237T>G	c.(4237-4239)Tta>Gta	p.L1413V	ASXL1_ENST00000306058.5_Missense_Mutation_p.L1408V	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	1413					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CTTCTGGAAATTACCCCGAGA	0.542			"F, N, Mis"		"MDS, CMML"								3	162					0	0	0.000248	0	0	G	31024752	T	G	31024752	3	3	77	1	0	0	0	0	1	0	0	0	1065	1490	52	5	4293	5	ASXL1	20	31024752	Missense_Mutation	SNP	T	TCGA-EJ-7331-01A-11D-2114-08		31024752	32000768	32	3946											
EMILIN3	90187	broad.mit.edu	37	chr20	39991280	39991280	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccagcaggctcccccagagtCggtgcagccgtcggtccacg	6	5	13	17	4	0	1	0	0	0	1	4	1	2	1	5	3	3	3	5	3	0	0			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr20:39991280C>T	ENST00000332312.3	-	4	1121	c.929G>A	c.(928-930)cGa>cAa	p.R310Q		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	310						proteinaceous extracellular matrix				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				CCCCCAGAGTCGGTGCAGCCG	0.667													3	19					0	0	0.000248	0	0	T	39991280	C	T	39991280	3	4	77	1	0	0	0	0	1	0	0	0	5123	884	31	1	1375	1	EMILIN3	20	39991280	Missense_Mutation	SNP	C	TCGA-EJ-7331-01A-11D-2114-08	8966528	39991280	23034240	33	3947											
COL18A1	80781	broad.mit.edu	37	chr21	46913428	46913428	+	Frame_Shift_Del	DEL	A	A	-																															attccagggtgagaagggtgAaccgggcagcatcttcagcc																										TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr21:46913428delA	ENST00000359759.4	+	25	3557	c.3536delA	c.(3535-3537)gafs	p.E1179fs	COL18A1_ENST00000400337.2_Frame_Shift_Del_p.E764fs|COL18A1_ENST00000355480.5_Frame_Shift_Del_p.E944fs|COL18A1_ENST00000459895.1_3'UTR			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1179	Triple-helical region 5 (COL5).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GAGAAGGGTGAACCGGGCAGC	0.692													2	4	---	---	---	---						-	46913428	A	-	46913428	7	5	77	1	0	1	0	1	0	0	0	0	3698	246	9	0	3748	0	COL18A1	21	46913428	Frame_Shift_Del	DEL	A	TCGA-EJ-7331-01A-11D-2114-08		46913428	1216467	34	3948											
PARVG	64098	broad.mit.edu	37	chr22	44581708	44581708	+	Frame_Shift_Del	DEL	C	C	-																															gaggaaagaagaaatacctgCcacccacttcccggaaggac																										TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chr22:44581708delC	ENST00000422871.1	+	4	524	c.100delC	c.(100-102)cafs	p.P35fs	PARVG_ENST00000444313.2_Frame_Shift_Del_p.P35fs|PARVG_ENST00000453888.3_3'UTR|PARVG_ENST00000415224.1_Frame_Shift_Del_p.P35fs	NM_001137605.1	NP_001131077.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	35					cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				GAAATACCTGCCACCCACTTC	0.587													10	56	---	---	---	---						-	44581708	C	-	44581708	7	5	77	1	0	1	0	1	0	0	0	0	11517	739	26	0	106	0	PARVG	22	44581708	Frame_Shift_Del	DEL	C	TCGA-EJ-7331-01A-11D-2114-08		44581708	6722858	35	3949											
IL1RAPL1	11141	broad.mit.edu	37	chrX	29972719	29972719	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagagactggggaagaagaaCgttttgcccttgaaatccta	14	9	11	7	1	0	4	0	1	0	3	1	6	1	5	2	2	2	1	2	2	6	4			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chrX:29972719C>T	ENST00000378993.1	+	10	1955	c.1282C>T	c.(1282-1284)Cgt>Tgt	p.R428C	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.R428C	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	428	TIR.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						GGAAGAAGAACGTTTTGCCCT	0.353													23	21					0	0	0.003954	0	0	T	29972719	C	T	29972719	3	4	77	1	0	0	0	0	1	0	0	0	7705	536	19	1	1316	1	IL1RAPL1	23	29972719	Missense_Mutation	SNP	C	TCGA-EJ-7331-01A-11D-2114-08		29972719	125297841	36	3950											
KDM6A	7403	broad.mit.edu	37	chrX	44969495	44969495	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctatgaccaatttacattaGtaagtcaaatcaacatgtga	16	13	5	7	0	3	2	2	2	1	0	3	2	3	2	1	0	2	1	1	0	7	5			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chrX:44969495G>A	ENST00000377967.4	+	28	4217		c.e28+1		KDM6A_ENST00000536777.1_Splice_Site|KDM6A_ENST00000543216.1_Splice_Site|KDM6A_ENST00000382899.4_Splice_Site	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A						histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						ATTTACATTAGTAAGTCAAAT	0.378			"D, N, F, S"		"renal, oesophageal SCC, MM"								28	33					0	0	0.003271	0	0	A	44969495	G	A	44969495	5	1	77	1	0	0	0	0	0	0	1	0	8180	1043	36	2	4287	2	KDM6A	23	44969495	Splice_Site	SNP	G	TCGA-EJ-7331-01A-11D-2114-08	14996776	44969495	110301065	37	3951											
GPKOW	27238	broad.mit.edu	37	chrX	48973489	48973489	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agccagacgaaccatggcccGaacattgtcaggatcaaggc	13	5	11	12	2	2	1	2	0	0	1	2	4	2	2	3	3	3	0	3	3	3	1			TCGA-EJ-7331-01A-11D-2114-08	TCGA-EJ-7331-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	532ff1cc-59ff-4078-a917-5e3934db4cc7	ff40c43c-8061-4654-8af7-8200b006260c	g.chrX:48973489G>A	ENST00000156109.5	-	6	886	c.808C>T	c.(808-810)Cgg>Tgg	p.R270W		NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	270						nucleus	nucleic acid binding			breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						ACCATGGCCCGAACATTGTCA	0.547													16	45					0	0	0.008871	0	0	A	48973489	G	A	48973489	3	1	77	1	0	0	0	0	1	0	0	0	6653	1057	37	1	646	1	GPKOW	23	48973489	Missense_Mutation	SNP	G	TCGA-EJ-7331-01A-11D-2114-08	4003994	48973489	106297071	38	3952											
GABRD	2563	broad.mit.edu	37	chr1	1957026	1957026	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctcctacaaccacaccaacGagaccctgggtctggacagc	11	6	8	16	1	2	1	0	0	2	1	3	3	2	2	4	2	4	0	4	2	3	1			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr1:1957026G>A	ENST00000378585.4	+	4	402	c.319G>A	c.(319-321)Gag>Aag	p.E107K		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	107						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(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CCACACCAACGAGACCCTGGG	0.637													9	87					0	0	0.058154	0	0	A	1957026	G	A	1957026	3	1	78	1	0	0	0	0	1	0	0	0	6204	1059	37	1	333	1	GABRD	1	1957026	Missense_Mutation	SNP	G	TCGA-EJ-7781-01A-11D-2114-08		1957026	247293595	1	3953											
PRAMEF1	65121	broad.mit.edu	37	chr1	12855916	12855916	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccctgaaggacctgctgcGccacaccagtgggctgagca	8	5	13	15	2	0	2	0	2	0	0	0	3	0	3	4	2	3	3	4	2	1	0			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr1:12855916G>A	ENST00000332296.7	+	4	1299	c.1196G>A	c.(1195-1197)cGc>cAc	p.R399H	PRAMEF1_ENST00000400814.3_Missense_Mutation_p.R154H	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	399										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GACCTGCTGCGCCACACCAGT	0.557													7	147					0	0	0.047766	0	0	A	12855916	G	A	12855916	3	1	78	1	0	0	0	0	1	0	0	0	12474	1087	38	1	1206	1	PRAMEF1	1	12855916	Missense_Mutation	SNP	G	TCGA-EJ-7781-01A-11D-2114-08	10898890	12855916	236394705	2	3954											
PRAMEF2	65122	broad.mit.edu	37	chr1	12921405	12921405	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccctgaaggacctgctgcGccacaccagtgggctgagca	8	5	13	15	2	0	2	0	2	0	0	0	3	0	3	4	2	3	3	4	2	1	0	rs143742734	byFrequency	TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr1:12921405G>A	ENST00000240189.2	+	4	1283	c.1196G>A	c.(1195-1197)cGc>cAc	p.R399H		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	399										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GACCTGCTGCGCCACACCAGT	0.557													19	124					0	0	0.049695	0	0	A	12921405	G	A	12921405	3	1	78	1	0	0	0	0	1	0	0	0	12484	1087	38	1	1206	1	PRAMEF2	1	12921405	Missense_Mutation	SNP	G	TCGA-EJ-7781-01A-11D-2114-08	65489	12921405	236329216	3	3955											
HPCA	3208	broad.mit.edu	37	chr1	33354639	33354639	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaatcctcaatgtggatgAgttcaagaagatctacgcca	14	9	10	8	1	3	3	2	1	1	2	4	5	4	5	2	2	1	1	2	2	5	2			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr1:33354639A>G	ENST00000373467.3	+	2	242	c.140A>G	c.(139-141)gAg>gGg	p.E47G	HPCA_ENST00000480118.1_3'UTR	NM_002143.2	NP_002134.2	P84074	HPCA_HUMAN	hippocalcin	47	EF-hand 1.						actin binding|calcium ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				AATGTGGATGAGTTCAAGAAG	0.537													9	79					0	0	0.047766	0	0	G	33354639	A	G	33354639	3	3	78	1	0	0	0	0	1	0	0	0	7370	304	11	3	142	3	HPCA	1	33354639	Missense_Mutation	SNP	A	TCGA-EJ-7781-01A-11D-2114-08	20433234	33354639	215895982	4	3956											
FLG2	388698	broad.mit.edu	37	chr1	152329230	152329230	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctataggactgactacagggGttagactcaggttgaccaca	12	9	11	9	0	1	3	1	2	0	1	1	4	1	4	1	4	1	2	1	4	4	5			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr1:152329230G>C	ENST00000388718.5	-	3	1104	c.1032C>G	c.(1030-1032)aaC>aaG	p.N344K	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	344	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACTACAGGGGTTAGACTCAG	0.502													10	139					0	0	0.080935	0	0	C	152329230	G	C	152329230	3	2	78	1	0	0	0	0	1	0	0	0	5956	1252	44	4	6147	4	FLG2	1	152329230	Missense_Mutation	SNP	G	TCGA-EJ-7781-01A-11D-2114-08	118974591	152329230	96921391	5	3957											
ANKRD45	339416	broad.mit.edu	37	chr1	173593981	173593981	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atatcttccagttgttgtctCtgctcaaaaagctcattaat	11	16	5	9	0	4	0	2	0	2	0	6	0	5	0	1	0	2	4	1	0	4	5			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr1:173593981C>G	ENST00000333279.2	-	5	735	c.675G>C	c.(673-675)caG>caC	p.Q225H		NM_198493.2	NP_940895.1	Q5TZF3	ANR45_HUMAN	ankyrin repeat domain 45	241										NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						GTTGTTGTCTCTGCTCAAAAA	0.393													9	48					0	0	0.047766	0	0	G	173593981	C	G	173593981	3	3	78	1	0	0	0	0	1	0	0	0	667	912	32	4	133	4	ANKRD45	1	173593981	Missense_Mutation	SNP	C	TCGA-EJ-7781-01A-11D-2114-08	21264751	173593981	75656640	6	3958											
REEP1	65055	broad.mit.edu	37	chr2	86459814	86459814	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgtgtttgccgctggcccGcccagaccccggtggtgggg	2	7	17	15	4	0	1	0	0	0	1	0	1	0	1	6	5	1	2	6	5	0	1	rs144874997	byFrequency	TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr2:86459814G>A	ENST00000165698.5	-	6	672	c.529C>T	c.(529-531)Cgg>Tgg	p.R177W	REEP1_ENST00000540790.1_Missense_Mutation_p.R156W|REEP1_ENST00000535845.1_Missense_Mutation_p.R150W|REEP1_ENST00000538924.1_Missense_Mutation_p.R184W|REEP1_ENST00000541910.1_Silent_p.G98G	NM_022912.2	NP_075063.1	Q9H902	REEP1_HUMAN	receptor accessory protein 1	177					cell death|protein insertion into membrane	integral to membrane|mitochondrial membrane	olfactory receptor binding			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	13						CCGCTGGCCCGCCCAGACCCC	0.637													10	52					0	0	0.058154	0	0	A	86459814	G	A	86459814	3	1	78	1	0	0	0	0	1	0	0	0	13256	1086	38	1	145	1	REEP1	2	86459814	Missense_Mutation	SNP	G	TCGA-EJ-7781-01A-11D-2114-08		86459814	156739559	7	3959											
RNF103	7844	broad.mit.edu	37	chr2	86847496	86847496	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgtgtcttccacaagctcaTagaagtgcatttcaccactg	10	13	7	11	0	3	1	2	0	1	1	4	1	4	1	2	0	2	2	2	0	3	4			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr2:86847496T>C	ENST00000237455.4	-	2	1291	c.323A>G	c.(322-324)tAt>tGt	p.Y108C	RNF103-CHMP3_ENST00000604011.1_Missense_Mutation_p.Y30C|RNF103_ENST00000477307.1_5'UTR|CHMP3_ENST00000439940.2_Missense_Mutation_p.Y30C	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	108					central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						CACAAGCTCATAGAAGTGCAT	0.403													11	71					0	0	0.080935	0	0	C	86847496	T	C	86847496	3	2	78	1	0	0	0	0	1	0	0	0	13475	1406	49	3	1746	3	RNF103	2	86847496	Missense_Mutation	SNP	T	TCGA-EJ-7781-01A-11D-2114-08	387682	86847496	156351877	8	3960											
SAP130	79595	broad.mit.edu	37	chr2	128703100	128703100	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacaggatactcctttctgaTtagctatttcctgcagcata	10	14	7	10	0	1	1	0	1	1	0	3	3	3	2	2	1	4	3	2	1	4	6			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr2:128703100T>C	ENST00000357702.5	-	19	3040	c.2909A>G	c.(2908-2910)aAt>aGt	p.N970S	SAP130_ENST00000259235.3_Missense_Mutation_p.N935S|SAP130_ENST00000259234.6_Missense_Mutation_p.N943S	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	935	Interactions with SIN3A and HDAC1.				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TCCTTTCTGATTAGCTATTTC	0.408													4	68					0	0	0.014758	0	0	C	128703100	T	C	128703100	3	2	78	1	0	0	0	0	1	0	0	0	13883	1493	52	3	354	3	SAP130	2	128703100	Missense_Mutation	SNP	T	TCGA-EJ-7781-01A-11D-2114-08	41855604	128703100	114496273	9	3961											
UBXN4	23190	broad.mit.edu	37	chr2	136536538	136536540	+	In_Frame_Del	DEL	TAA	TAA	-																															actgttggcaacacttacggTaatttttcgttagcaaccat																										TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr2:136536538_136536540delTAA	ENST00000272638.9	+	11	1385_1387	c.1074_1076delTAA	c.(1072-1077)ggt>gg	p.GN358del	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	358	UBX.				response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						ACACTTACGGTAATTTTTCGTTA	0.35													9	81	---	---	---	---						-	136536540	TAA	-	136536538	7	5	78	1	0	1	0	1	0	0	0	0	16976	1625	57	0	1116	0	UBXN4	2	136536538	In_Frame_Del	DEL	TAA	TCGA-EJ-7781-01A-11D-2114-08	7833438	136536538	106662835	10	3962											
THSD7B	80731	broad.mit.edu	37	chr2	137814399	137814399	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccgggattgtgtagtatcTgagttcttaccatggtccaa	8	13	10	10	1	2	1	0	1	2	0	3	2	3	2	4	2	1	3	4	2	4	5			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr2:137814399T>G	ENST00000409968.1	+	3	727	c.549T>G	c.(547-549)tcT>tcG	p.S183S	THSD7B_ENST00000543459.1_Silent_p.S42S|THSD7B_ENST00000272643.3_Silent_p.S183S|THSD7B_ENST00000413152.2_Silent_p.S152S					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GTGTAGTATCTGAGTTCTTAC	0.493													13	246					0	0	0.132662	0	0	G	137814399	T	G	137814399	2	3	78	1	0	0	0	0	0	0	0	1	15940	1567	55	5		5	THSD7B	2	137814399	Silent	SNP	T	TCGA-EJ-7781-01A-11D-2114-08	1277861	137814399	105384974	11	3963											
SCN1A	6323	broad.mit.edu	37	chr2	166859166	166859166	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaatttgccagcaaacaaaTttacgcccatgatgctgaaa	16	9	7	9	1	0	3	0	2	0	1	0	3	0	3	2	0	5	2	2	0	5	3			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr2:166859166T>C	ENST00000423058.2	-	21	4117	c.4100A>G	c.(4099-4101)aAt>aGt	p.N1367S	AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.N1339S|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.N1356S|SCN1A_ENST00000303395.4_Missense_Mutation_p.N1367S	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1367			N -> K (in SMEI; dbSNP:rs121918760).			voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AGCAAACAAATTTACGCCCAT	0.388													6	68					0	0	0.02938	0	0	C	166859166	T	C	166859166	3	2	78	1	0	0	0	0	1	0	0	0	13968	1493	52	3	1953	3	SCN1A	2	166859166	Missense_Mutation	SNP	T	TCGA-EJ-7781-01A-11D-2114-08	29044767	166859166	76340207	12	3964											
SCN1A	6323	broad.mit.edu	37	chr2	166900370	166900370	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgactcaggttgctgttgcGtctctctccgtgtcgtcggg	2	14	13	12	4	3	1	1	1	2	0	7	1	3	1	1	2	2	3	1	2	0	2			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr2:166900370G>A	ENST00000423058.2	-	11	1869	c.1852C>T	c.(1852-1854)Cgc>Tgc	p.R618C	AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.R618C|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.R618C|SCN1A_ENST00000303395.4_Missense_Mutation_p.R618C|AC010127.3_ENST00000599041.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	618						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TTGCTGTTGCGTCTCTCTCCG	0.537													24	59					0	0	0.069288	0	0	A	166900370	G	A	166900370	3	1	78	1	0	0	0	0	1	0	0	0	13968	1145	40	1	4241	1	SCN1A	2	166900370	Missense_Mutation	SNP	G	TCGA-EJ-7781-01A-11D-2114-08	41204	166900370	76299003	13	3965											
TTN	7273	broad.mit.edu	37	chr2	179605764	179605764	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcaatttcctgctctgagtCaagtgcttcaactgcgggac	8	12	10	11	1	3	1	2	1	1	0	4	2	4	2	1	1	5	3	1	1	3	2			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr2:179605764C>G	ENST00000589042.1	-	48	12420	c.12196G>C	c.(12196-12198)Gac>Cac	p.D4066H	TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D3749H|TTN_ENST00000359218.5_Missense_Mutation_p.D3828H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D3895H|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D3703H|TTN_ENST00000342992.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3749							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCTCTGAGTCAAGTGCTTCA	0.438													48	132					0	0	0.139131	0	0	G	179605764	C	G	179605764	3	3	78	1	0	0	0	0	1	0	0	0	16797	826	29	4	92593	4	TTN	2	179605764	Missense_Mutation	SNP	C	TCGA-EJ-7781-01A-11D-2114-08	12705394	179605764	63593609	14	3966											
KBTBD12	166348	broad.mit.edu	37	chr3	127642852	127642852	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcatctcatctcccaagtaCggagagggtttaggaactgt	10	12	10	9	1	3	1	2	0	2	1	5	3	3	2	1	3	2	2	1	3	4	4			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr3:127642852C>T	ENST00000405109.1	+	2	1415	c.948C>T	c.(946-948)taC>taT	p.Y316Y	KBTBD12_ENST00000343941.4_Intron|KBTBD12_ENST00000405256.1_Silent_p.Y316Y|KBTBD12_ENST00000407609.3_Intron			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	316								p.Y316Y(2)		endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						CTCCCAAGTACGGAGAGGGTT	0.408													6	74					0	0	0.021553	0	0	T	127642852	C	T	127642852	2	4	78	1	0	0	0	0	0	0	0	1	8035	547	19	1		1	KBTBD12	3	127642852	Silent	SNP	C	TCGA-EJ-7781-01A-11D-2114-08		127642852	70379578	15	3967											
EXOC1	55763	broad.mit.edu	37	chr4	56744213	56744213	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaagagtacagattatggaaAatatgaaggactaacaaagg	21	7	10	3	0	0	3	0	1	0	2	0	5	0	5	0	3	2	1	0	3	9	4			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr4:56744213A>G	ENST00000381295.2	+	9	1553	c.1205A>G	c.(1204-1206)aAa>aGa	p.K402R	EXOC1_ENST00000346134.7_Missense_Mutation_p.K402R|EXOC1_ENST00000349598.6_Missense_Mutation_p.K402R	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	402					exocytosis|protein transport	exocyst	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					GATTATGGAAAATATGAAGGA	0.383													25	66					0	0	0.108266	0	0	G	56744213	A	G	56744213	3	3	78	1	0	0	0	0	1	0	0	0	5328	14	1	3	1235	3	EXOC1	4	56744213	Missense_Mutation	SNP	A	TCGA-EJ-7781-01A-11D-2114-08		56744213	134410063	16	3968											
PDZD2	23037	broad.mit.edu	37	chr5	32091103	32091104	+	Frame_Shift_Ins	INS	-	-	C																															caaaactgagctggagatcaINScccccaggaggtcacctggc																										TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr5:32091103_32091104insC	ENST00000438447.1	+	20	7937_7938	c.7549_7550insC	c.(7549-7551)cccfs	p.P2517fs	PDZD2_ENST00000282493.3_Frame_Shift_Ins_p.P2517fs			O15018	PDZD2_HUMAN	PDZ domain containing 2	2517					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GCTGGAGATCACCCCCAGGAGG	0.614													9	93	---	---	---	---						C	32091104	-	C	32091103	7	5	78	1	0	1	1	0	0	0	0	0	11748	159	6	0	7623	0	PDZD2	5	32091103	Frame_Shift_Ins	INS	-	TCGA-EJ-7781-01A-11D-2114-08		32091103	148824157	17	3969											
PCDHA5	0	broad.mit.edu	37	chr5	140202764	140202764	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgtgaaggagaacaacccGccaggctgccacatcttcac	11	7	9	14	2	2	2	1	1	1	1	3	3	2	2	3	2	3	1	3	2	3	2	rs17844294		TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr5:140202764G>A	ENST00000529859.1	+	1	1404	c.1404G>A	c.(1402-1404)ccG>ccA	p.P468P	PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Silent_p.P468P|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000378126.3_Silent_p.P468P|PCDHA1_ENST00000394633.3_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAACAACCCGCCAGGCTGCC	0.677													26	125					0	0	0.0918	0	0	A	140202764	G	A	140202764	2	1	78	1	0	0	0	0	0	0	0	1	11574	1074	38	1		1	PCDHA5	5	140202764	Silent	SNP	G	TCGA-EJ-7781-01A-11D-2114-08	108111661	140202764	40712496	18	3970											
PCDHA7	0	broad.mit.edu	37	chr5	140214180	140214180	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggcggtgtgcaaattccGtggggatcttctggaggtaa	7	10	16	8	3	2	0	0	0	2	0	3	2	3	2	2	6	1	2	2	6	2	3			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr5:140214180G>A	ENST00000525929.1	+	1	212	c.212G>A	c.(211-213)cGt>cAt	p.R71H	PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.R71H|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCAAATTCCGTGGGGATCTT	0.617													15	247					0	0	0.146539	0	0	A	140214180	G	A	140214180	3	1	78	1	0	0	0	0	1	0	0	0	11576	1145	40	1	214	1	PCDHA7	5	140214180	Missense_Mutation	SNP	G	TCGA-EJ-7781-01A-11D-2114-08	11416	140214180	40701080	19	3971											
PCDHGA2	0	broad.mit.edu	37	chr5	140720528	140720528	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcacgctcaccgtggccGtggccgacaggatccccgac	6	6	12	17	5	2	0	2	0	0	0	3	3	3	1	5	3	0	1	5	3	0	0			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr5:140720528G>A	ENST00000394576.2	+	1	1990	c.1990G>A	c.(1990-1992)Gtg>Atg	p.V664M	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCGTGGCCGTGGCCGACAG	0.677													12	115					0	0	0.080935	0	0	A	140720528	G	A	140720528	3	1	78	1	0	0	0	0	1	0	0	0	11601	1145	40	1	1992	1	PCDHGA2	5	140720528	Missense_Mutation	SNP	G	TCGA-EJ-7781-01A-11D-2114-08	506348	140720528	40194732	20	3972											
FBXO38	81545	broad.mit.edu	37	chr5	147796680	147796680	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaatgccaacatccacgacAacaatcaccatcatccagat	17	6	3	15	1	2	1	2	0	0	1	4	2	4	1	4	0	3	0	4	0	4	0			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr5:147796680A>C	ENST00000340253.5	+	12	1699	c.1531A>C	c.(1531-1533)Aac>Cac	p.N511H	FBXO38_ENST00000394370.3_Missense_Mutation_p.N511H|FBXO38_ENST00000513826.1_Missense_Mutation_p.N511H|FBXO38_ENST00000296701.6_Missense_Mutation_p.N511H			Q6PIJ6	FBX38_HUMAN	F-box protein 38	511						cytoplasm|nucleus			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCCACGACAACAATCACCA	0.473													12	31					0	0	0.080935	0	0	C	147796680	A	C	147796680	3	2	78	1	0	0	0	0	1	0	0	0	5779	130	5	5	1573	5	FBXO38	5	147796680	Missense_Mutation	SNP	A	TCGA-EJ-7781-01A-11D-2114-08	7076152	147796680	33118580	21	3973											
KIAA0319	9856	broad.mit.edu	37	chr6	24596291	24596291	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgcgtctccgctggcaccGcaggactgtctccaacagag	7	7	12	15	3	2	1	0	0	2	1	4	2	2	2	3	2	2	4	3	2	1	0			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr6:24596291G>T	ENST00000535378.1	-	4	1226	c.584C>A	c.(583-585)gCg>gAg	p.A195E	KIAA0319_ENST00000378214.3_Missense_Mutation_p.A204E|KIAA0319_ENST00000430948.2_Missense_Mutation_p.A159E|KIAA0319_ENST00000537886.1_Missense_Mutation_p.A204E|KIAA0319_ENST00000543707.1_Missense_Mutation_p.A204E	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	204					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CGCTGGCACCGCAGGACTGTC	0.622													3	36					0.004672	0.00490856	0.115264	1	0	T	24596291	G	T	24596291	3	4	78	1	0	0	0	0	1	0	0	0	8210	1087	38	4	2683	4	KIAA0319	6	24596291	Missense_Mutation	SNP	G	TCGA-EJ-7781-01A-11D-2114-08		24596291	146518776	22	3974											
PKHD1	5314	broad.mit.edu	37	chr6	51612955	51612955	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaacatggcaccatagtcAaagttcttgaaagccaagaa	16	9	8	8	0	2	2	1	1	1	1	2	2	2	2	2	1	2	3	2	1	6	4			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr6:51612955A>C	ENST00000371117.3	-	58	9734	c.9459T>G	c.(9457-9459)ttT>ttG	p.F3153L	PKHD1_ENST00000340994.4_Missense_Mutation_p.F3153L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3153					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CACCATAGTCAAAGTTCTTGA	0.408													16	209					0	0	0.146539	0	0	C	51612955	A	C	51612955	3	2	78	1	0	0	0	0	1	0	0	0	12019	127	5	5	2844	5	PKHD1	6	51612955	Missense_Mutation	SNP	A	TCGA-EJ-7781-01A-11D-2114-08	27016664	51612955	119502112	23	3975											
FAM83B	222584	broad.mit.edu	37	chr6	54805411	54805411	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gttcctctttagtatttaaaCccactttacctgagcaaaag	12	14	5	10	0	1	1	0	1	1	0	2	1	2	1	3	0	3	3	3	0	7	8			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr6:54805411C>A	ENST00000306858.7	+	5	1758	c.1642C>A	c.(1642-1644)Ccc>Acc	p.P548T		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	548										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					AGTATTTAAACCCACTTTACC	0.423													5	64					1.23904e-05	1.3712e-05	0.014758	1	0	A	54805411	C	A	54805411	3	1	78	1	0	0	0	0	1	0	0	0	5666	507	18	4	1656	4	FAM83B	6	54805411	Missense_Mutation	SNP	C	TCGA-EJ-7781-01A-11D-2114-08	3192456	54805411	116309656	24	3976											
PDE10A	10846	broad.mit.edu	37	chr6	165752808	165752808	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttcttgtctctgtccatcaTaggaataggctgtattccca	8	15	7	11	0	3	0	1	0	2	0	6	1	5	1	2	2	0	2	2	2	4	6			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr6:165752808T>C	ENST00000366882.1	-	21	2261	c.2107A>G	c.(2107-2109)Atg>Gtg	p.M703V	PDE10A_ENST00000539869.2_Missense_Mutation_p.M713V|PDE10A_ENST00000354448.4_Missense_Mutation_p.M703V			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	703					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	CTGTCCATCATAGGAATAGGC	0.353													4	126					0	0	0.150653	0	0	C	165752808	T	C	165752808	3	2	78	1	0	0	0	0	1	0	0	0	11677	1406	49	3	244	3	PDE10A	6	165752808	Missense_Mutation	SNP	T	TCGA-EJ-7781-01A-11D-2114-08	110947397	165752808	5362259	25	3977											
KLHL7	55975	broad.mit.edu	37	chr7	23207656	23207656	+	Splice_Site	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttatgatcctgccacagaaaCgtatgtatctatttaaaatt	14	15	5	7	1	1	2	0	1	1	1	2	2	2	2	2	0	2	2	2	0	7	7			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr7:23207656C>G	ENST00000322231.7	+	10	1803	c.1313_splice	c.e10+1	p.T438_splice	KLHL7_ENST00000339077.4_Splice_Site_p.T460_splice|KLHL7_ENST00000542558.1_Splice_Site_p.T235_splice|KLHL7_ENST00000545443.1_Splice_Site_p.T438_splice|KLHL7_ENST00000539124.1_Splice_Site_p.T384_splice|KLHL7_ENST00000409689.1_Splice_Site_p.T412_splice			Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	460						Golgi apparatus|nucleolus|plasma membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GCCACAGAAACGTATGTATCT	0.368													4	42					0	0	0.021553	0	0	G	23207656	C	G	23207656	5	3	78	1	0	0	0	0	0	0	1	0	8437	550	19	4	1476	4	KLHL7	7	23207656	Splice_Site	SNP	C	TCGA-EJ-7781-01A-11D-2114-08		23207656	135931007	26	3978											
ERLIN2	11160	broad.mit.edu	37	chr8	37601885	37601885	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccaatagtggtggtgtgatGatctactttgacagaattga	11	14	11	5	0	1	5	0	4	1	1	2	5	2	5	1	2	1	0	1	2	4	4			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr8:37601885G>A	ENST00000276461.5	+	5	316	c.249G>A	c.(247-249)atG>atA	p.M83I	ERLIN2_ENST00000518586.1_Missense_Mutation_p.M83I|ERLIN2_ENST00000397228.2_Missense_Mutation_p.M83I|ERLIN2_ENST00000523107.1_Missense_Mutation_p.M83I|ERLIN2_ENST00000519638.1_Missense_Mutation_p.M83I|ERLIN2_ENST00000335171.6_Missense_Mutation_p.M83I|ERLIN2_ENST00000523887.1_Missense_Mutation_p.M83I	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	ER lipid raft associated 2	83					ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding			NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GTGGTGTGATGATCTACTTTG	0.507													18	257					0	0	0.175082	0	0	A	37601885	G	A	37601885	3	1	78	1	0	0	0	0	1	0	0	0	5261	1290	45	2	263	2	ERLIN2	8	37601885	Missense_Mutation	SNP	G	TCGA-EJ-7781-01A-11D-2114-08		37601885	108762137	27	3979											
ERLIN2	11160	broad.mit.edu	37	chr8	37602094	37602094	+	Missense_Mutation	SNP	G	G	A																															ctccttccctctcagtgtatGatatagtgaagaactatact																										TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr8:37602094G>A	ENST00000276461.5	+	6	371	c.304G>A	c.(304-306)Gat>Aat	p.D102N	ERLIN2_ENST00000518586.1_Missense_Mutation_p.D102N|ERLIN2_ENST00000397228.2_Missense_Mutation_p.D102N|ERLIN2_ENST00000523107.1_Missense_Mutation_p.D102N|ERLIN2_ENST00000519638.1_Missense_Mutation_p.D102N|ERLIN2_ENST00000335171.6_Missense_Mutation_p.D102N|ERLIN2_ENST00000523887.1_Missense_Mutation_p.D102N	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	ER lipid raft associated 2	102					ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding			NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			CTCAGTGTATGATATAGTGAA	0.478													11	115					0	0	0.105934	0	0	A	37602094	G	A	37602094	3	1	78	1	0	0	0	0	1	0	0	0	5261	1290	45	2	322	2	ERLIN2	8	37602094	Missense_Mutation	SNP	G	TCGA-EJ-7781-01A-11D-2114-08	209	37602094	108761928	28	3980	20	2									
ERLIN2	11160	broad.mit.edu	37	chr8	37602102	37602102	+	Silent	SNP	G	G	A																															ctctcagtgtatgatatagtGaagaactatactgctgacta																										TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr8:37602102G>A	ENST00000276461.5	+	6	379	c.312G>A	c.(310-312)gtG>gtA	p.V104V	ERLIN2_ENST00000518586.1_Silent_p.V104V|ERLIN2_ENST00000397228.2_Silent_p.V104V|ERLIN2_ENST00000523107.1_Silent_p.V104V|ERLIN2_ENST00000519638.1_Silent_p.V104V|ERLIN2_ENST00000335171.6_Silent_p.V104V|ERLIN2_ENST00000523887.1_Silent_p.V104V	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	ER lipid raft associated 2	104					ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding			NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			ATGATATAGTGAAGAACTATA	0.478													10	120					0	0	0.09319	0	0	A	37602102	G	A	37602102	2	1	78	1	0	0	0	0	0	0	0	1	5261	1277	45	2		2	ERLIN2	8	37602102	Silent	SNP	G	TCGA-EJ-7781-01A-11D-2114-08	8	37602102	108761920	29	3981	20	2									
ERLIN2	11160	broad.mit.edu	37	chr8	37611003	37611003	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccgggagaaggcaaaggcaGatgctgagtgctacactgct	11	6	14	10	1	0	3	0	1	0	2	0	4	0	3	1	3	4	5	1	3	3	1			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr8:37611003G>C	ENST00000276461.5	+	11	842	c.775G>C	c.(775-777)Gat>Cat	p.D259H	ERLIN2_ENST00000519638.1_Missense_Mutation_p.D259H	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	ER lipid raft associated 2	259	Interaction with ERLIN1.				ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding			NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GGCAAAGGCAGATGCTGAGTG	0.498													3	54					0	0	0.150653	0	0	C	37611003	G	C	37611003	3	2	78	1	0	0	0	0	1	0	0	0	5261	942	33	4	852	4	ERLIN2	8	37611003	Missense_Mutation	SNP	G	TCGA-EJ-7781-01A-11D-2114-08	8901	37611003	108753019	30	3982											
VCPIP1	80124	broad.mit.edu	37	chr8	67578194	67578195	+	Frame_Shift_Ins	INS	-	-	A																															ttcaaatgaccatctttcccINSagtgcacttctctgcaggga																										TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr8:67578194_67578195insA	ENST00000310421.4	-	1	1257_1258	c.999_1000insT	c.(997-1002)acggaafs	p.E334fs		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	334	OTU.				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			CCATCTTTCCCAGTGCACTTCT	0.47													13	146	---	---	---	---						A	67578195	-	A	67578194	7	5	78	1	0	1	1	0	0	0	0	0	17201	594	21	0	2680	0	VCPIP1	8	67578194	Frame_Shift_Ins	INS	-	TCGA-EJ-7781-01A-11D-2114-08	29967191	67578194	78785828	31	3983											
ADCY8	114	broad.mit.edu	37	chr8	131916039	131916039	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctgtttccccacgatattAtcaaagggcagttcagggct	9	13	9	10	1	3	0	2	0	1	0	4	1	4	0	2	2	0	4	2	2	3	5			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr8:131916039A>T	ENST00000286355.5	-	7	3982	c.1890T>A	c.(1888-1890)gaT>gaA	p.D630E	ADCY8_ENST00000377928.3_Missense_Mutation_p.D630E	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	630					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CCACGATATTATCAAAGGGCA	0.502										HNSCC(32;0.087)			10	73					0	0	0.058154	0	0	T	131916039	A	T	131916039	3	4	78	1	0	0	0	0	1	0	0	0	299	446	16	5	1913	5	ADCY8	8	131916039	Missense_Mutation	SNP	A	TCGA-EJ-7781-01A-11D-2114-08	64337845	131916039	14447983	32	3984											
DAPK1	1612	broad.mit.edu	37	chr9	90261436	90261436	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atattcaaatactacagttgCtcattaaaagaggctcgaga	16	11	7	7	1	2	2	2	0	0	2	3	3	2	2	0	1	3	3	0	1	6	6			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr9:90261436C>G	ENST00000469640.2	+	13	1567	c.1192C>G	c.(1192-1194)Ctc>Gtc	p.L398V	DAPK1_ENST00000472284.1_Missense_Mutation_p.L398V|DAPK1_ENST00000408954.3_Missense_Mutation_p.L398V|DAPK1_ENST00000358077.5_Missense_Mutation_p.L398V|DAPK1_ENST00000491893.1_Missense_Mutation_p.L398V			P53355	DAPK1_HUMAN	death-associated protein kinase 1	398					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						ACTACAGTTGCTCATTAAAAG	0.343									Chronic Lymphocytic Leukemia, Familial Clustering of				14	58					0	0	0.160694	0	0	G	90261436	C	G	90261436	3	3	78	1	0	0	0	0	1	0	0	0	4259	797	28	4	1238	4	DAPK1	9	90261436	Missense_Mutation	SNP	C	TCGA-EJ-7781-01A-11D-2114-08		90261436	50951995	33	3985											
NOTCH1	4851	broad.mit.edu	37	chr9	139401765	139401765	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agcggcccttaccctgagtgCcccgtgggcaggagcacttg	6	7	14	14	2	0	1	0	1	0	0	0	2	0	2	4	3	4	2	4	3	1	2			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr9:139401765C>T	ENST00000277541.6	-	22	3710	c.3635G>A	c.(3634-3636)gGc>gAc	p.G1212D		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1212	EGF-like 31; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ACCCTGAGTGCCCCGTGGGCA	0.687			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			3	43					0	0	0.115264	0	0	T	139401765	C	T	139401765	3	4	78	1	0	0	0	0	1	0	0	0	10594	739	26	2	4084	2	NOTCH1	9	139401765	Missense_Mutation	SNP	C	TCGA-EJ-7781-01A-11D-2114-08	49140329	139401765	1811666	34	3986											
DIP2C	22982	broad.mit.edu	37	chr10	323440	323440	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccacgttggtcaccaagggaAccaggtccaaggcttcttgt	9	9	11	12	1	2	0	1	0	1	0	3	1	3	1	4	4	1	2	4	4	3	3			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr10:323440A>G	ENST00000280886.6	-	37	4583	c.4496T>C	c.(4495-4497)gTt>gCt	p.V1499A		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1499						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CACCAAGGGAACCAGGTCCAA	0.542													5	40					0	0	0.021553	0	0	G	323440	A	G	323440	3	3	78	1	0	0	0	0	1	0	0	0	4557	43	2	3	178	3	DIP2C	10	323440	Missense_Mutation	SNP	A	TCGA-EJ-7781-01A-11D-2114-08		323440	135211307	35	3987											
ZEB1	6935	broad.mit.edu	37	chr10	31810040	31810040	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agccacctttaaagaacctcTtgtctctcctaaaagcatat	13	12	4	12	0	2	1	0	0	2	1	4	1	3	1	4	0	3	1	4	0	6	5			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr10:31810040T>A	ENST00000446923.2	+	7	2120	c.1729T>A	c.(1729-1731)Ttg>Atg	p.L577M	ZEB1_ENST00000320985.10_Missense_Mutation_p.L593M|ZEB1_ENST00000542815.3_Missense_Mutation_p.L526M|ZEB1_ENST00000361642.5_Missense_Mutation_p.L594M|ZEB1_ENST00000560721.2_Missense_Mutation_p.L573M|ZEB1_ENST00000559858.1_3'UTR	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	593					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AAAGAACCTCTTGTCTCTCCT	0.438													8	84					0	0	0.047766	0	0	A	31810040	T	A	31810040	3	1	78	1	0	0	0	0	1	0	0	0	17681	1606	56	5	1817	5	ZEB1	10	31810040	Missense_Mutation	SNP	T	TCGA-EJ-7781-01A-11D-2114-08	31486600	31810040	103724707	36	3988											
RBP3	5949	broad.mit.edu	37	chr10	48389905	48389905	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggactacccctggaagggCgctgcgcagagtgaggatgg	8	6	18	9	2	0	2	0	1	0	1	0	5	0	5	2	5	2	2	2	5	2	1			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr10:48389905C>T	ENST00000224600.4	-	1	1086	c.973G>A	c.(973-975)Gcc>Acc	p.A325T		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	325	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CCTGGAAGGGCGCTGCGCAGA	0.672													6	43					0	0	0.021553	0	0	T	48389905	C	T	48389905	3	4	78	1	0	0	0	0	1	0	0	0	13209	768	27	1	2786	1	RBP3	10	48389905	Missense_Mutation	SNP	C	TCGA-EJ-7781-01A-11D-2114-08	16579865	48389905	87144842	37	3989											
PLAU	5328	broad.mit.edu	37	chr10	75673797	75673797	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcgctcaaggcttaactccaAcacgcaaggggagatgaagt	13	7	11	10	2	1	2	1	1	0	1	3	3	2	2	1	3	2	3	1	3	5	1			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr10:75673797A>G	ENST00000446342.1	+	7	1171	c.689A>G	c.(688-690)aAc>aGc	p.N230S	C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000372762.4_Missense_Mutation_p.N211S|C10orf55_ENST00000409178.1_Intron|PLAU_ENST00000372764.3_Missense_Mutation_p.N247S	NM_001145031.1	NP_001138503.1	P00749	UROK_HUMAN	plasminogen activator, urokinase	247	Peptidase S1.				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16	Prostate(51;0.0112)				Amiloride(DB00594)|Urokinase(DB00013)	CTTAACTCCAACACGCAAGGG	0.502													6	54					0	0	0.021553	0	0	G	75673797	A	G	75673797	3	3	78	1	0	0	0	0	1	0	0	0	12070	43	2	3	804	3	PLAU	10	75673797	Missense_Mutation	SNP	A	TCGA-EJ-7781-01A-11D-2114-08	27283892	75673797	59860950	38	3990											
TRIM21	6737	broad.mit.edu	37	chr11	4411307	4411307	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgagactgggcacatacccaGcaaagggccttcccatcttt	10	8	9	14	1	1	1	0	0	1	1	2	2	2	1	3	2	2	2	3	2	2	3			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr11:4411307G>A	ENST00000254436.7	-	2	445	c.333C>T	c.(331-333)tgC>tgT	p.C111C	TRIM21_ENST00000543625.1_Silent_p.C111C	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	111					cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		CACATACCCAGCAAAGGGCCT	0.577													3	41					0	0	0.115264	0	0	A	4411307	G	A	4411307	2	1	78	1	0	0	0	0	0	0	0	1	16556	963	34	2		2	TRIM21	11	4411307	Silent	SNP	G	TCGA-EJ-7781-01A-11D-2114-08		4411307	130595209	39	3991											
HBE1	3046	broad.mit.edu	37	chr11	5289795	5289795	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aactccttgccaaagtgagtAgccagaataatcaccatcac	15	8	6	12	0	2	2	2	1	0	1	3	2	3	2	4	0	3	1	4	0	5	3			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr11:5289795A>T	ENST00000380237.1	-	5	692	c.348T>A	c.(346-348)gcT>gcA	p.A116A	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000292896.2_Silent_p.A116A			P02100	HBE_HUMAN	hemoglobin, epsilon 1	116					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAAAGTGAGTAGCCAGAATAA	0.488													19	135					0	0	0.055883	0	0	T	5289795	A	T	5289795	2	4	78	1	0	0	0	0	0	0	0	1	7021	407	15	5		5	HBE1	11	5289795	Silent	SNP	A	TCGA-EJ-7781-01A-11D-2114-08	878488	5289795	129716721	40	3992											
SLC5A12	159963	broad.mit.edu	37	chr11	26743040	26743040	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggatgccccaaagcggtaGacttcagaaggggtccccag	12	5	13	11	1	1	2	1	0	0	2	2	3	2	3	4	4	2	1	4	4	4	2			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr11:26743040G>T	ENST00000396005.3	-	1	531	c.222C>A	c.(220-222)gtC>gtA	p.V74V	SLC5A12_ENST00000280467.6_Silent_p.V74V	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	74					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						CAAAGCGGTAGACTTCAGAAG	0.512													7	74					1.26484e-09	1.43811e-09	0.038147	1	0	T	26743040	G	T	26743040	2	4	78	1	0	0	0	0	0	0	0	1	14719	929	33	4		4	SLC5A12	11	26743040	Silent	SNP	G	TCGA-EJ-7781-01A-11D-2114-08	21453245	26743040	108263476	41	3993											
PTPRJ	5795	broad.mit.edu	37	chr11	48161138	48161138	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcgccaatgcaggctttgaGctggaggtcagcagtggagc	8	7	17	9	1	1	1	1	1	0	0	1	3	1	3	1	5	4	4	1	5	1	1			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr11:48161138G>A	ENST00000418331.2	+	11	2605	c.2253G>A	c.(2251-2253)gaG>gaA	p.E751E		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	751	Fibronectin type-III 8.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						CAGGCTTTGAGCTGGAGGTCA	0.562													5	53					0	0	0.014758	0	0	A	48161138	G	A	48161138	2	1	78	1	0	0	0	0	0	0	0	1	12856	962	34	2		2	PTPRJ	11	48161138	Silent	SNP	G	TCGA-EJ-7781-01A-11D-2114-08	21418098	48161138	86845378	42	3994											
OR5AS1	219447	broad.mit.edu	37	chr11	55798549	55798549	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtaatatttatttcttacTtctgcatcctcatcactgtg	8	19	5	9	0	4	0	2	0	2	0	5	0	5	0	1	1	2	2	1	1	4	7			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr11:55798549T>A	ENST00000313555.1	+	1	655	c.655T>A	c.(655-657)Ttc>Atc	p.F219I		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					TATTTCTTACTTCTGCATCCT	0.438													13	189					0	0	0.11911	0	0	A	55798549	T	A	55798549	3	1	78	1	0	0	0	0	1	0	0	0	11193	1609	56	5	657	5	OR5AS1	11	55798549	Missense_Mutation	SNP	T	TCGA-EJ-7781-01A-11D-2114-08	7637411	55798549	79207967	43	3995											
FAM111A	63901	broad.mit.edu	37	chr11	58919681	58919681	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caggacaaagcatcgactgaAtgtgtcaaattttacattca	15	11	7	8	1	2	1	2	1	0	0	3	3	2	2	0	1	2	1	0	1	4	3			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr11:58919681A>G	ENST00000528737.1	+	5	3358	c.540A>G	c.(538-540)gaA>gaG	p.E180E	FAM111A_ENST00000531147.1_Silent_p.E180E|FAM111A_ENST00000361723.3_Silent_p.E180E|FAM111A_ENST00000533703.1_Silent_p.E180E|FAM111A_ENST00000420244.1_Silent_p.E180E			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	180					proteolysis		serine-type endopeptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				CATCGACTGAATGTGTCAAAT	0.408													16	90					0	0	0.146539	0	0	G	58919681	A	G	58919681	2	3	78	1	0	0	0	0	0	0	0	1	5430	98	4	3		3	FAM111A	11	58919681	Silent	SNP	A	TCGA-EJ-7781-01A-11D-2114-08	3121132	58919681	76086835	44	3996											
GLB1L3	112937	broad.mit.edu	37	chr11	134181019	134181019	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtatccccccgtgagaccGtcgctgtacctcccgctgtg	4	10	11	16	4	0	1	0	1	0	1	3	2	2	1	6	0	1	4	6	0	2	2			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr11:134181019G>A	ENST00000431683.2	+	13	1242	c.1242G>A	c.(1240-1242)ccG>ccA	p.P414P		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	414					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		CCGTGAGACCGTCGCTGTACC	0.622													22	364					0	0	0.116897	0	0	A	134181019	G	A	134181019	2	1	78	1	0	0	0	0	0	0	0	1	6472	1132	40	1		1	GLB1L3	11	134181019	Silent	SNP	G	TCGA-EJ-7781-01A-11D-2114-08	75261338	134181019	825497	45	3997											
KCNA6	3742	broad.mit.edu	37	chr12	4919943	4919943	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccctggggaaatggggaccGggggctcctcctcactcagt	6	7	14	14	1	2	0	2	0	0	0	4	2	4	2	5	6	0	1	5	6	1	0			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr12:4919943G>A	ENST00000433855.1	+	1	1602	c.736G>A	c.(736-738)Ggg>Agg	p.G246R	KCNA6_ENST00000280684.3_Missense_Mutation_p.G246R	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	246						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						AATGGGGACCGGGGGCTCCTC	0.547										HNSCC(72;0.22)			5	113					0	0	0.02938	0	0	A	4919943	G	A	4919943	3	1	78	1	0	0	0	0	1	0	0	0	8051	1116	39	1	738	1	KCNA6	12	4919943	Missense_Mutation	SNP	G	TCGA-EJ-7781-01A-11D-2114-08		4919943	128931952	46	3998											
STAB2	55576	broad.mit.edu	37	chr12	104107521	104107521	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcacgtgcaaagcaggctaCacgggtgatggcattgtgtg	9	9	15	8	2	0	1	0	1	0	0	0	1	0	1	0	3	4	5	0	3	2	2			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr12:104107521C>T	ENST00000388887.2	+	42	4716	c.4512C>T	c.(4510-4512)taC>taT	p.Y1504Y		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1504	EGF-like 12.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AAGCAGGCTACACGGGTGATG	0.517													19	203					0	0	0.069288	0	0	T	104107521	C	T	104107521	2	4	78	1	0	0	0	0	0	0	0	1	15294	489	17	2		2	STAB2	12	104107521	Silent	SNP	C	TCGA-EJ-7781-01A-11D-2114-08	99187578	104107521	29744374	47	3999											
FLT1	2321	broad.mit.edu	37	chr13	28877423	28877423	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcgcttgccttcgctgaCgtgcccacagctggaatggc	5	9	12	15	3	0	1	0	1	0	0	1	2	0	2	3	2	4	3	3	2	1	2			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr13:28877423C>T	ENST00000282397.4	-	30	4149	c.3898G>A	c.(3898-3900)Gtc>Atc	p.V1300I	FLT1_ENST00000540678.1_Missense_Mutation_p.V518I|FLT1_ENST00000543394.1_Missense_Mutation_p.V323I	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1300					cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	CCTTCGCTGACGTGCCCACAG	0.547													5	73					0	0	0.014758	0	0	T	28877423	C	T	28877423	3	4	78	1	0	0	0	0	1	0	0	0	5974	536	19	1	122	1	FLT1	13	28877423	Missense_Mutation	SNP	C	TCGA-EJ-7781-01A-11D-2114-08		28877423	86292455	48	4000											
OR5AU1	390445	broad.mit.edu	37	chr14	21624148	21624148	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttctgaagatgagtcttaTtgagggcatttggctttgca	8	15	11	7	0	2	4	0	3	2	1	2	4	2	4	1	2	1	3	1	2	2	5			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr14:21624148T>C	ENST00000304418.3	-	1	74	c.37A>G	c.(37-39)Ata>Gta	p.I13V		NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU, member 1	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		ATGAGTCTTATTGAGGGCATT	0.448													12	148					0	0	0.080935	0	0	C	21624148	T	C	21624148	3	2	78	1	0	0	0	0	1	0	0	0	11194	1493	52	3	1054	3	OR5AU1	14	21624148	Missense_Mutation	SNP	T	TCGA-EJ-7781-01A-11D-2114-08		21624148	85725392	49	4001											
RNF31	55072	broad.mit.edu	37	chr14	24618082	24618082	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccctcaccacaccctctgtcCcaggtattattggtcctaaa	9	11	5	16	0	2	0	1	0	1	0	4	0	4	0	5	2	0	1	5	2	4	4			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr14:24618082C>A	ENST00000324103.6	+	5	948	c.628C>A	c.(628-630)Cca>Aca	p.P210T	RNF31_ENST00000382687.3_Missense_Mutation_p.P59T|RNF31_ENST00000557878.1_3'UTR|RNF31_ENST00000559275.1_Missense_Mutation_p.P59T	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	210	Polyubiquitin-binding.				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		ACCCTCTGTCCCAGGTATTAT	0.458													16	171					0.000566183	0.000618332	0.160694	1	0	A	24618082	C	A	24618082	3	1	78	1	0	0	0	0	1	0	0	0	13539	623	22	4	646	4	RNF31	14	24618082	Missense_Mutation	SNP	C	TCGA-EJ-7781-01A-11D-2114-08	2993934	24618082	82731458	50	4002											
RHOJ	57381	broad.mit.edu	37	chr14	63671716	63671716	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgatgagctacgccaaCgacgccttcccagaggaata	11	7	10	13	3	0	3	0	2	0	1	1	5	1	4	3	1	4	2	3	1	4	3			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr14:63671716C>T	ENST00000316754.3	+	1	591	c.129C>T	c.(127-129)aaC>aaT	p.N43N	RHOJ_ENST00000557133.1_3'UTR|RHOJ_ENST00000555125.1_Silent_p.N43N	NM_020663.4	NP_065714.1	Q9H4E5	RHOJ_HUMAN	ras homolog family member J	43					actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)		GCTACGCCAACGACGCCTTCC	0.572													7	50					0	0	0.047766	0	0	T	63671716	C	T	63671716	2	4	78	1	0	0	0	0	0	0	0	1	13391	535	19	1		1	RHOJ	14	63671716	Silent	SNP	C	TCGA-EJ-7781-01A-11D-2114-08	39053634	63671716	43677824	51	4003											
SPTB	6710	broad.mit.edu	37	chr14	65246524	65246524	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctccttcctaggggttcCaggaggtccaggaaccgctt	6	11	11	13	1	0	0	0	0	0	0	5	2	5	2	6	5	1	2	6	5	2	5			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr14:65246524C>T	ENST00000389722.3	-	20	4445	c.4392G>A	c.(4390-4392)ctG>ctA	p.L1464L	SPTB_ENST00000556626.1_Silent_p.L1464L|SPTB_ENST00000542895.1_Silent_p.L1464L|SPTB_ENST00000389720.3_Silent_p.L1464L|SPTB_ENST00000389721.5_Silent_p.L1464L	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1464					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CTAGGGGTTCCAGGAGGTCCA	0.582													6	133					0	0	0.021553	0	0	T	65246524	C	T	65246524	2	4	78	1	0	0	0	0	0	0	0	1	15174	581	21	2		2	SPTB	14	65246524	Silent	SNP	C	TCGA-EJ-7781-01A-11D-2114-08	1574808	65246524	42103016	52	4004											
IQGAP1	8826	broad.mit.edu	37	chr15	91040570	91040570	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agacttttatgttacattatCaggtgggtatgcaccagcag	11	13	10	7	0	1	1	1	0	0	1	1	1	1	1	1	2	3	4	1	2	4	5			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr15:91040570C>T	ENST00000268182.5	+	37	4982	c.4858C>T	c.(4858-4860)Cag>Tag	p.Q1620*	IQGAP1_ENST00000560738.1_Nonsense_Mutation_p.Q1048*	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1620	C2.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GTTACATTATCAGGTGGGTAT	0.388													14	29					0	0	0.105934	0	0	T	91040570	C	T	91040570	4	4	78	1	0	0	0	0	0	1	0	0	7858	827	29	2	5004	2	IQGAP1	15	91040570	Nonsense_Mutation	SNP	C	TCGA-EJ-7781-01A-11D-2114-08		91040570	11490822	53	4005											
PKD1	5310	broad.mit.edu	37	chr16	2162937	2162937	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacgttgtagttcacggtgaCgttgctcacgtggttggagg	6	13	15	7	4	2	1	2	1	0	0	2	2	2	2	0	4	2	6	0	4	2	6			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr16:2162937C>T	ENST00000262304.4	-	13	3221	c.3013G>A	c.(3013-3015)Gtc>Atc	p.V1005I	PKD1_ENST00000423118.1_Missense_Mutation_p.V1005I|RP11-304L19.4_ENST00000568795.1_RNA	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1005	PKD 4.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TTCACGGTGACGTTGCTCACG	0.642													4	48					0	0	0.014758	0	0	T	2162937	C	T	2162937	3	4	78	1	0	0	0	0	1	0	0	0	12011	536	19	1	10034	1	PKD1	16	2162937	Missense_Mutation	SNP	C	TCGA-EJ-7781-01A-11D-2114-08		2162937	88191816	54	4006											
TP53	7157	broad.mit.edu	37	chr17	7576890	7576890	+	Frame_Shift_Del	DEL	T	T	-																															ctccatccagtggtttcttcTttggctggggagaggagctg																										TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr17:7576890delT	ENST00000420246.2	-	9	1088	c.956delA	c.(955-957)agfs	p.K321fs	TP53_ENST00000269305.4_Frame_Shift_Del_p.K321fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.K321fs|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Frame_Shift_Del_p.K321fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.K321fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	321	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.		K -> E (in kidney cancer; germline mutation).|K -> R (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.P318fs*15(2)|p.P318fs*21(1)|p.S315fs*22(1)|p.?(1)|p.K319R(1)|p.S314fs*25(1)|p.L308fs*15(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)		TGGTTTCTTCTTTGGCTGGGG	0.468		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)			23	40	---	---	---	---						-	7576890	T	-	7576890	7	5	78	1	0	1	0	1	0	0	0	0	16442	1609	56	0	326	0	TP53	17	7576890	Frame_Shift_Del	DEL	T	TCGA-EJ-7781-01A-11D-2114-08		7576890	73618320	55	4007											
AXIN2	8313	broad.mit.edu	37	chr17	63553974	63553974	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcacactcgccgtggccctCagagttttgctggacaagcc	7	9	10	15	2	2	1	2	0	0	1	3	2	2	2	3	2	2	2	3	2	1	2			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr17:63553974C>G	ENST00000307078.5	-	2	1078	c.765G>C	c.(763-765)ctG>ctC	p.L255L	CTD-2535L24.2_ENST00000577662.1_3'UTR|AXIN2_ENST00000375702.5_Silent_p.L255L	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN	axin 2	255					cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						CCGTGGCCCTCAGAGTTTTGC	0.547									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome				5	98					0	0	0.038147	0	0	G	63553974	C	G	63553974	2	3	78	1	0	0	0	0	0	0	0	1	1235	813	29	4		4	AXIN2	17	63553974	Silent	SNP	C	TCGA-EJ-7781-01A-11D-2114-08	55977084	63553974	17641236	56	4008											
MGAT5B	146664	broad.mit.edu	37	chr17	74928777	74928777	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgtgtccgaggagctcaacGagacggagaagcggctcatc	10	6	14	11	5	2	2	2	0	0	2	5	6	3	3	1	3	3	2	1	3	2	0			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr17:74928777G>A	ENST00000569840.2	+	11	1916	c.1342G>A	c.(1342-1344)Gag>Aag	p.E448K	MGAT5B_ENST00000428789.2_Missense_Mutation_p.E459K|MGAT5B_ENST00000301618.4_Missense_Mutation_p.E448K	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	448						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGAGCTCAACGAGACGGAGAA	0.627													6	93					0	0	0.02938	0	0	A	74928777	G	A	74928777	3	1	78	1	0	0	0	0	1	0	0	0	9599	1059	37	1	1485	1	MGAT5B	17	74928777	Missense_Mutation	SNP	G	TCGA-EJ-7781-01A-11D-2114-08	11374803	74928777	6266433	57	4009											
KANK2	25959	broad.mit.edu	37	chr19	11304613	11304613	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctcgatgtcatccacgtacTtgaggaagtccaggtccagg	9	10	11	11	2	2	1	1	1	1	0	6	3	5	2	3	3	1	1	3	3	2	2			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr19:11304613T>C	ENST00000432929.2	-	4	503	c.143A>G	c.(142-144)aAg>aGg	p.K48R	KANK2_ENST00000586659.1_Missense_Mutation_p.K48R|KANK2_ENST00000355150.5_Missense_Mutation_p.K48R|KANK2_ENST00000589359.1_Missense_Mutation_p.K48R|KANK2_ENST00000589894.1_Missense_Mutation_p.K48R	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	48										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						ATCCACGTACTTGAGGAAGTC	0.692													17	52					0	0	0.160694	0	0	C	11304613	T	C	11304613	3	2	78	1	0	0	0	0	1	0	0	0	8021	1609	56	3	2476	3	KANK2	19	11304613	Missense_Mutation	SNP	T	TCGA-EJ-7781-01A-11D-2114-08		11304613	47824370	58	4010											
ZNF443	10224	broad.mit.edu	37	chr19	12541355	12541355	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catgtacctttaagttatcaTaatgaccgaaggctttccta	12	14	6	9	1	1	1	1	1	0	0	2	2	2	1	3	1	1	3	3	1	6	7			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr19:12541355T>A	ENST00000301547.5	-	4	1828	c.1631A>T	c.(1630-1632)tAt>tTt	p.Y544F	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	544					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						TAAGTTATCATAATGACCGAA	0.398													9	60					0	0	0.069234	0	0	A	12541355	T	A	12541355	3	1	78	1	0	0	0	0	1	0	0	0	17973	1406	49	5	388	5	ZNF443	19	12541355	Missense_Mutation	SNP	T	TCGA-EJ-7781-01A-11D-2114-08	1236742	12541355	46587628	59	4011											
SLC4A11	83959	broad.mit.edu	37	chr20	3214874	3214874	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccagggaggtggccgtctcGttcaggacgatgctggcctg	5	9	16	11	3	2	0	1	0	1	0	4	3	3	2	3	5	1	2	3	5	0	1			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr20:3214874G>A	ENST00000380059.3	-	5	608	c.507C>T	c.(505-507)aaC>aaT	p.N169N	SLC4A11_ENST00000380056.3_Silent_p.N142N|SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000539553.1_Silent_p.N126N	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	142					cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity	p.N142N(1)|p.N169N(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						TGGCCGTCTCGTTCAGGACGA	0.597													17	97					0	0	0.049695	0	0	A	3214874	G	A	3214874	2	1	78	1	0	0	0	0	0	0	0	1	14707	1136	40	1		1	SLC4A11	20	3214874	Silent	SNP	G	TCGA-EJ-7781-01A-11D-2114-08		3214874	59810646	60	4012											
CHGB	1114	broad.mit.edu	37	chr20	5897548	5897548	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccatcacccctgagtgccGccaagtcctgaagacgagta	11	6	9	15	2	1	3	1	2	0	1	2	4	2	3	6	0	1	1	6	0	3	1	rs139177513		TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr20:5897548G>A	ENST00000378961.4	+	3	377	c.173G>A	c.(172-174)cGc>cAc	p.R58H	CHGB_ENST00000488832.1_3'UTR	NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	58						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						CCTGAGTGCCGCCAAGTCCTG	0.552													20	88					0	0	0.055883	0	0	A	5897548	G	A	5897548	3	1	78	1	0	0	0	0	1	0	0	0	3361	1087	38	1	183	1	CHGB	20	5897548	Missense_Mutation	SNP	G	TCGA-EJ-7781-01A-11D-2114-08	2682674	5897548	57127972	61	4013											
PCSK2	5126	broad.mit.edu	37	chr20	17436993	17436993	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctcattatcttcccttccagGcaaccacagatttgtacggc	9	12	6	14	1	2	1	1	0	1	1	4	1	4	1	3	2	2	2	3	2	3	5			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr20:17436993G>A	ENST00000262545.2	+	10	1417	c.1101_splice	c.e10-1	p.A368_splice	PCSK2_ENST00000377899.1_Splice_Site_p.A349_splice|PCSK2_ENST00000536609.1_Splice_Site_p.A333_splice	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	368	Catalytic.				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCCCTTCCAGGCAACCACAGA	0.488													15	180					0	0	0.132662	0	0	A	17436993	G	A	17436993	5	1	78	1	0	0	0	0	0	0	1	0	11648	1217	42	2	1140	2	PCSK2	20	17436993	Splice_Site	SNP	G	TCGA-EJ-7781-01A-11D-2114-08	11539445	17436993	45588527	62	4014											
MN1	4330	broad.mit.edu	37	chr22	28196380	28196380	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttcgcccagcgcgctcataGcaggatccacagggccaggg	8	5	14	14	3	1	0	1	0	0	0	3	1	2	1	3	3	2	3	3	3	1	2			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr22:28196380G>A	ENST00000302326.4	-	1	1106	c.152C>T	c.(151-153)gCt>gTt	p.A51V		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	51							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						CGCGCTCATAGCAGGATCCAC	0.647			T	ETV6	"AML, meningioma"								6	81					0	0	0.02938	0	0	A	28196380	G	A	28196380	3	1	78	1	0	0	0	0	1	0	0	0	9722	971	34	2	3818	2	MN1	22	28196380	Missense_Mutation	SNP	G	TCGA-EJ-7781-01A-11D-2114-08		28196380	23108186	63	4015											
SEC14L3	266629	broad.mit.edu	37	chr22	30866203	30866203	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtggataggtctcaccttgCggagcaaagcctccgacttc	9	9	11	12	2	1	0	1	0	1	0	4	3	2	2	3	3	3	1	3	3	2	3			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr22:30866203C>T	ENST00000215812.4	-	3	260	c.170G>A	c.(169-171)cGc>cAc	p.R57H	SEC14L3_ENST00000401751.1_5'UTR|SEC14L3_ENST00000415957.2_5'UTR|SEC14L3_ENST00000403066.1_5'UTR|SEC14L3_ENST00000402286.1_5'UTR|SEC14L3_ENST00000540910.1_5'UTR|SEC14L3_ENST00000539629.1_5'UTR	NM_174975.4	NP_777635.1	Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	57						integral to membrane|intracellular	lipid binding|transporter activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	TCTCACCTTGCGGAGCAAAGC	0.527													3	33					0	0	0.150653	0	0	T	30866203	C	T	30866203	3	4	78	1	0	0	0	0	1	0	0	0	14037	768	27	1	1072	1	SEC14L3	22	30866203	Missense_Mutation	SNP	C	TCGA-EJ-7781-01A-11D-2114-08	2669823	30866203	20438363	64	4016											
ZC3H7B	23264	broad.mit.edu	37	chr22	41735080	41735080	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccctgttccctcacgttcTggacctgctggcccccctgg	2	10	10	19	1	2	0	1	0	1	0	3	1	3	1	7	3	1	3	7	3	0	2			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chr22:41735080T>G	ENST00000352645.4	+	9	958	c.701T>G	c.(700-702)cTg>cGg	p.L234R	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.L234R	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	250					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						CCTCACGTTCTGGACCTGCTG	0.667													64	133					0	0	0.139131	0	0	G	41735080	T	G	41735080	3	3	78	1	0	0	0	0	1	0	0	0	17632	1580	55	5	731	5	ZC3H7B	22	41735080	Missense_Mutation	SNP	T	TCGA-EJ-7781-01A-11D-2114-08	10868877	41735080	9569486	65	4017											
NHS	4810	broad.mit.edu	37	chrX	17750102	17750102	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcacccagcagtaatgtgAcaacccccaacagccagagg	13	5	8	15	0	1	2	1	1	0	1	1	2	1	2	4	1	4	2	4	1	3	2			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chrX:17750102A>G	ENST00000380060.3	+	8	4749	c.4411A>G	c.(4411-4413)Aca>Gca	p.T1471A	NHS_ENST00000398097.3_Missense_Mutation_p.T1315A	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1471						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CAGTAATGTGACAACCCCCAA	0.493													14	82					0	0	0.132662	0	0	G	17750102	A	G	17750102	3	3	78	1	0	0	0	0	1	0	0	0	10458	275	10	3	4546	3	NHS	23	17750102	Missense_Mutation	SNP	A	TCGA-EJ-7781-01A-11D-2114-08		17750102	137520458	66	4018											
STARD8	9754	broad.mit.edu	37	chrX	67937307	67937307	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcccccagctcgagtgaccGgcccctcctcagccccaccc	5	5	8	23	2	1	1	1	1	0	0	3	2	2	1	9	1	3	1	9	1	0	0			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chrX:67937307G>A	ENST00000252336.6	+	5	683	c.311G>A	c.(310-312)cGg>cAg	p.R104Q	STARD8_ENST00000374599.3_Missense_Mutation_p.R184Q|STARD8_ENST00000374597.3_Missense_Mutation_p.R104Q	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	104					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						TCGAGTGACCGGCCCCTCCTC	0.637													8	26					0	0	0.069234	0	0	A	67937307	G	A	67937307	3	1	78	1	0	0	0	0	1	0	0	0	15319	1116	39	1	573	1	STARD8	23	67937307	Missense_Mutation	SNP	G	TCGA-EJ-7781-01A-11D-2114-08	50187205	67937307	87333253	67	4019											
GABRE	2564	broad.mit.edu	37	chrX	151124292	151124292	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaggcaacatagccaaaccgCctgctcacattgaagaaaat	17	6	7	11	1	1	2	1	1	0	1	1	2	1	2	3	1	4	2	3	1	7	2			TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chrX:151124292C>G	ENST00000370325.1	-	7	878	c.825G>C	c.(823-825)agG>agC	p.R275S	GABRE_ENST00000370328.3_Missense_Mutation_p.R275S|GABRE_ENST00000483564.1_5'UTR			P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	275					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					AGCCAAACCGCCTGCTCACAT	0.488													13	50					0	0	0.132662	0	0	G	151124292	C	G	151124292	3	3	78	1	0	0	0	0	1	0	0	0	6205	738	26	4	707	4	GABRE	23	151124292	Missense_Mutation	SNP	C	TCGA-EJ-7781-01A-11D-2114-08	83186985	151124292	4146268	68	4020											
BRCC3	79184	broad.mit.edu	37	chrX	154305487	154305487	+	Frame_Shift_Del	DEL	T	T	-																															acattcattctgtcatcatcTtacgacgttctgataagagg																										TCGA-EJ-7781-01A-11D-2114-08	TCGA-EJ-7781-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8fe17b0c-48f1-4379-8572-d415746ee01b	9815ad1d-4855-4da4-839c-ffcf705347d3	g.chrX:154305487delT	ENST00000369462.1	+	4	263	c.238delT	c.(238-240)tafs	p.L80fs	MTCP1_ENST00000362018.2_Intron|BRCC3_ENST00000340647.4_Frame_Shift_Del_p.L81fs|BRCC3_ENST00000330045.7_Frame_Shift_Del_p.L80fs|BRCC3_ENST00000399042.1_Frame_Shift_Del_p.L80fs|BRCC3_ENST00000369459.2_Frame_Shift_Del_p.L80fs	NM_024332.3	NP_077308.1	P46736	BRCC3_HUMAN	BRCA1/BRCA2-containing complex, subunit 3	80					double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|positive regulation of DNA repair|response to X-ray	BRCA1-A complex|BRISC complex|nuclear ubiquitin ligase complex	enzyme regulator activity|metal ion binding|metallopeptidase activity|polyubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1)	22	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGTCATCATCTTACGACGTTC	0.433													21	23	---	---	---	---						-	154305487	T	-	154305487	7	5	78	1	0	1	0	1	0	0	0	0	1502	1606	56	0	252	0	BRCC3	23	154305487	Frame_Shift_Del	DEL	T	TCGA-EJ-7781-01A-11D-2114-08	3181195	154305487	965073	69	4021											
ISG15	9636	broad.mit.edu	37	chr1	949846	949846	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggcggcacagagcctggCgggcggagctaagggcctcc	7	3	19	12	3	0	1	0	0	0	1	1	3	1	3	3	7	2	2	3	7	1	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:949846C>T	ENST00000379389.4	+	2	637	c.486C>T	c.(484-486)ggC>ggT	p.G162G		NM_005101.3	NP_005092.1	P05161	ISG15_HUMAN	ISG15 ubiquitin-like modifier	162					cell-cell signaling|interspecies interaction between organisms|ISG15-protein conjugation|negative regulation of type I interferon production|response to virus|type I interferon-mediated signaling pathway	cytosol|extracellular space	protein binding			endometrium(1)|lung(1)|upper_aerodigestive_tract(1)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.05e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.54e-23)|Colorectal(212;5.37e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00238)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		CAGAGCCTGGCGGGCGGAGCT	0.637													12	37					0	0	1	0	0	T	949846	C	T	949846	2	4	79	1	0	0	0	0	0	0	0	1	7897	755	27	1		1	ISG15	1	949846	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08		949846	248300775	1	4022											
MEGF6	1953	broad.mit.edu	37	chr1	3427388	3427388	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cactgagccggtagccggcgTagcagccgcactcgtacccg	7	5	13	16	6	0	1	0	1	0	0	1	1	0	1	4	2	5	5	4	2	3	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:3427388T>C	ENST00000356575.4	-	10	1419	c.1193A>G	c.(1192-1194)tAc>tGc	p.Y398C	MEGF6_ENST00000294599.4_Missense_Mutation_p.Y293C	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	398	EGF-like 7.					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GTAGCCGGCGTAGCAGCCGCA	0.682													4	28					0	0	1	0	0	C	3427388	T	C	3427388	3	2	79	1	0	0	0	0	1	0	0	0	9512	1638	57	3	3544	3	MEGF6	1	3427388	Missense_Mutation	SNP	T	TCGA-EJ-7782-01A-11D-2114-08	2477542	3427388	245823233	2	4023											
ICMT	23463	broad.mit.edu	37	chr1	6294999	6294999	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttagcagcgtgccgcagccGaacacaaaccccaggaaaca	14	3	9	15	3	0	0	0	0	0	0	0	2	0	1	4	1	7	2	4	1	4	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:6294999G>A	ENST00000343813.5	-	2	259	c.231C>T	c.(229-231)ttC>ttT	p.F77F	ICMT_ENST00000362035.3_Silent_p.F77F	NM_012405.3	NP_036537.1	O60725	ICMT_HUMAN	isoprenylcysteine carboxyl methyltransferase	77					protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein C-terminal S-isoprenylcysteine carboxyl O-methyltransferase activity			NS(1)|endometrium(2)	3	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;2.4e-22)|all_lung(118;2.65e-08)|Lung NSC(185;6.45e-07)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000688)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;5.52e-38)|GBM - Glioblastoma multiforme(13;6.51e-32)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;7.08e-08)|COAD - Colon adenocarcinoma(227;8.35e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		TGCCGCAGCCGAACACAAACC	0.507													19	42					0	0	1	0	0	A	6294999	G	A	6294999	2	1	79	1	0	0	0	0	0	0	0	1	7529	1049	37	1		1	ICMT	1	6294999	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	2867611	6294999	242955622	3	4024											
TAS1R1	0	broad.mit.edu	37	chr1	6634741	6634741	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgtgaagcggcagtatccCtctttcctgcgcaccatccc	7	9	9	16	3	1	1	0	1	1	0	4	1	4	1	4	1	3	3	4	1	2	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:6634741C>A	ENST00000333172.6	+	3	742	c.549C>A	c.(547-549)ccC>ccA	p.P183P	TAS1R1_ENST00000328191.4_Silent_p.P183P|TAS1R1_ENST00000351136.3_Intron	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	183					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		GGCAGTATCCCTCTTTCCTGC	0.587													23	34					1.22574e-08	1.28945e-08	1	1	0	A	6634741	C	A	6634741	2	1	79	1	0	0	0	0	0	0	0	1	15619	668	24	4		4	TAS1R1	1	6634741	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	339742	6634741	242615880	4	4025											
CLSTN1	22883	broad.mit.edu	37	chr1	9811693	9811693	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaggacttctccttgaacaCgggcgcgtactcattcacgt	8	11	10	12	4	3	1	2	1	1	0	4	2	3	2	1	2	2	2	1	2	3	5			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:9811693C>T	ENST00000377298.4	-	5	1279	c.487G>A	c.(487-489)Gtg>Atg	p.V163M	CLSTN1_ENST00000361311.4_Missense_Mutation_p.V153M|CLSTN1_ENST00000377288.3_Missense_Mutation_p.V163M	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	163	Cadherin 1.				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		TCCTTGAACACGGGCGCGTAC	0.507													10	40					0	0	1	0	0	T	9811693	C	T	9811693	3	4	79	1	0	0	0	0	1	0	0	0	3584	536	19	1	2518	1	CLSTN1	1	9811693	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	3176952	9811693	239438928	5	4026											
PLOD1	5351	broad.mit.edu	37	chr1	12017970	12017970	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggctgcaccgtgtgtgaCgaaggcttgcgcagcctcaa	9	7	13	12	3	1	1	1	1	0	0	1	2	1	1	2	2	3	4	2	2	2	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:12017970C>T	ENST00000196061.4	+	8	840	c.813C>T	c.(811-813)gaC>gaT	p.D271D	PLOD1_ENST00000485046.1_3'UTR|PLOD1_ENST00000376369.3_Silent_p.D318D	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	271					epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	CCGTGTGTGACGAAGGCTTGC	0.632													29	34					0	0	1	0	0	T	12017970	C	T	12017970	2	4	79	1	0	0	0	0	0	0	0	1	12149	535	19	1		1	PLOD1	1	12017970	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	2206277	12017970	237232651	6	4027											
VPS13D	55187	broad.mit.edu	37	chr1	12460321	12460321	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaatgaggtcatcgagacCggcccagctgtgcaagtcaa	12	6	13	10	2	2	3	2	1	0	2	3	5	2	3	2	2	2	2	2	2	3	0			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:12460321C>T	ENST00000358136.3	+	61	11848	c.11718C>T	c.(11716-11718)acC>acT	p.T3906T	VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000356315.4_Silent_p.T3881T	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3905					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TCATCGAGACCGGCCCAGCTG	0.557													10	31					0	0	1	0	0	T	12460321	C	T	12460321	2	4	79	1	0	0	0	0	0	0	0	1	17252	639	23	1		1	VPS13D	1	12460321	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	442351	12460321	236790300	7	4028											
PRAMEF22	653606	broad.mit.edu	37	chr1	13036655	13036655	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcgcaaactcttcatctccGatggctgtcgttacctgcta	7	14	7	13	3	3	0	1	0	2	0	6	1	3	0	2	1	3	4	2	1	3	4			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:13036655G>A	ENST00000376187.1	+	2	727	c.727G>A	c.(727-729)Gat>Aat	p.D243N	PRAMEF6_ENST00000376192.5_Intron	NM_001100631.1	NP_001094101.1	A3QJZ6	PRA22_HUMAN	PRAME family member 22	243										kidney(1)|large_intestine(2)|lung(1)|skin(1)	5						CTTCATCTCCGATGGCTGTCG	0.478													5	88					0	0	1	0	0	A	13036655	G	A	13036655	3	1	79	1	0	0	0	0	1	0	0	0	12487	1058	37	1	733	1	PRAMEF22	1	13036655	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	576334	13036655	236213966	8	4029											
EPHA2	1969	broad.mit.edu	37	chr1	16458599	16458599	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggggtcgtcctccagcacgCgggacaggccaaagtcagac	9	4	14	14	4	1	1	1	0	0	1	4	2	3	2	3	4	1	1	3	4	1	0			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:16458599C>T	ENST00000358432.5	-	13	2439	c.2285G>A	c.(2284-2286)cGc>cAc	p.R762H		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	762	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	CTCCAGCACGCGGGACAGGCC	0.607													11	67					0	0	1	0	0	T	16458599	C	T	16458599	3	4	79	1	0	0	0	0	1	0	0	0	5195	768	27	1	665	1	EPHA2	1	16458599	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	3421944	16458599	232792022	9	4030											
ARHGEF19	128272	broad.mit.edu	37	chr1	16534048	16534048	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatcgagactggcgccgctcGttggtgctcctggaccccaa	7	8	12	14	4	0	1	0	0	0	1	3	3	1	2	4	3	1	3	4	3	2	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:16534048G>A	ENST00000270747.3	-	5	979	c.843C>T	c.(841-843)aaC>aaT	p.N281N	ARHGEF19_ENST00000421561.1_Silent_p.N281N	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	281					regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		GGCGCCGCTCGTTGGTGCTCC	0.622													7	20					0	0	1	0	0	A	16534048	G	A	16534048	2	1	79	1	0	0	0	0	0	0	0	1	899	1136	40	1		1	ARHGEF19	1	16534048	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	75449	16534048	232716573	10	4031											
ATP13A2	23400	broad.mit.edu	37	chr1	17322515	17322515	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgccccccaggttgatgcGcagtgggtggatgcagaaaa	9	8	14	10	1	0	2	0	1	0	1	0	3	0	3	3	3	3	3	3	3	2	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:17322515G>A	ENST00000452699.1	-	15	1672	c.1483C>T	c.(1483-1485)Cgc>Tgc	p.R495C	RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000341676.5_Missense_Mutation_p.R495C|ATP13A2_ENST00000502860.1_5'UTR|ATP13A2_ENST00000326735.8_Missense_Mutation_p.R500C	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN	ATPase type 13A2	500					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		AGGTTGATGCGCAGTGGGTGG	0.662													4	49					0	0	1	0	0	A	17322515	G	A	17322515	3	1	79	1	0	0	0	0	1	0	0	0	1123	1087	38	1	2340	1	ATP13A2	1	17322515	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	788467	17322515	231928106	11	4032											
TMEM57	55219	broad.mit.edu	37	chr1	25815687	25815687	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaatgcaccgaaaccttacGgaatcggatcagagaactag	16	6	10	9	3	1	2	1	0	0	2	2	6	1	4	2	2	4	1	2	2	6	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:25815687G>A	ENST00000374343.4	+	9	1699	c.1520G>A	c.(1519-1521)cGg>cAg	p.R507Q	TMEM57_ENST00000399763.3_Missense_Mutation_p.R149Q|TMEM57_ENST00000399766.3_Missense_Mutation_p.R280Q	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	507						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		GAAACCTTACGGAATCGGATC	0.448													6	23					0	0	1	0	0	A	25815687	G	A	25815687	3	1	79	1	0	0	0	0	1	0	0	0	16244	1116	39	1	1554	1	TMEM57	1	25815687	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	8493172	25815687	223434934	12	4033											
SMPDL3B	27293	broad.mit.edu	37	chr1	28285052	28285052	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggacgccgcgctgggagctCgagtaccagctgaccgaggc	7	4	17	13	5	0	1	0	1	0	0	1	5	0	3	3	3	3	4	3	3	1	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:28285052C>T	ENST00000373894.3	+	8	1262	c.1071C>T	c.(1069-1071)ctC>ctT	p.L357L	SMPDL3B_ENST00000549094.1_Silent_p.L309L|RP11-460I13.2_ENST00000448015.1_RNA	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN	sphingomyelin phosphodiesterase, acid-like 3B	357					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		GCTGGGAGCTCGAGTACCAGC	0.637													9	34					0	0	1	0	0	T	28285052	C	T	28285052	2	4	79	1	0	0	0	0	0	0	0	1	14863	871	31	1		1	SMPDL3B	1	28285052	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	2469365	28285052	220965569	13	4034											
TRIM62	55223	broad.mit.edu	37	chr1	33612961	33612961	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtccaggaagacacccacCttgtcaagcttgtcccggac	10	8	9	14	1	1	1	1	0	0	1	3	3	3	3	4	2	1	1	4	2	3	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:33612961C>A	ENST00000291416.5	-	5	1478	c.1245G>T	c.(1243-1245)aaG>aaT	p.K415N	TRIM62_ENST00000543586.1_Missense_Mutation_p.K294N	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN	tripartite motif containing 62	415	B30.2/SPRY.					intracellular	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				AGACACCCACCTTGTCAAGCT	0.577													12	50					3.07112e-06	3.19094e-06	1	1	0	A	33612961	C	A	33612961	3	1	79	1	0	0	0	0	1	0	0	0	16598	680	24	4	186	4	TRIM62	1	33612961	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	5327909	33612961	215637660	14	4035											
TRIM62	55223	broad.mit.edu	37	chr1	33625513	33625513	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagccgctcgaaggcctcGccgatagtggtccgcaggct	6	7	14	14	5	0	0	0	0	0	0	3	2	1	0	4	3	2	4	4	3	2	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:33625513G>A	ENST00000291416.5	-	3	770	c.537C>T	c.(535-537)ggC>ggT	p.G179G	TRIM62_ENST00000543586.1_Silent_p.G58G|TRIM62_ENST00000485148.1_5'UTR	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN	tripartite motif containing 62	179						intracellular	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				CGAAGGCCTCGCCGATAGTGG	0.657													5	28					0	0	1	0	0	A	33625513	G	A	33625513	2	1	79	1	0	0	0	0	0	0	0	1	16598	1074	38	1		1	TRIM62	1	33625513	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	12552	33625513	215625108	15	4036											
NASP	4678	broad.mit.edu	37	chr1	46073658	46073658	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagaggcctcagctgtagagGctggatcagaagtctctgaa	11	8	13	9	0	3	4	2	1	1	3	4	5	3	5	1	3	1	3	1	3	3	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:46073658G>A	ENST00000350030.3	+	6	1162	c.1075G>A	c.(1075-1077)Gct>Act	p.A359T	NASP_ENST00000372052.4_Intron|NASP_ENST00000537798.1_Missense_Mutation_p.A295T|NASP_ENST00000402363.3_Missense_Mutation_p.A361T|NASP_ENST00000351223.3_Intron	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	359	Glu-rich (acidic).				blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					AGCTGTAGAGGCTGGATCAGA	0.527													28	81					0	0	1	0	0	A	46073658	G	A	46073658	3	1	79	1	0	0	0	0	1	0	0	0	10220	1203	42	2	1174	2	NASP	1	46073658	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	12448145	46073658	203176963	16	4037											
LRRC41	10489	broad.mit.edu	37	chr1	46746931	46746931	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtgctcgcacgatagcaCgtgtcagctccaggatgggc	8	7	14	12	3	1	0	1	0	0	0	3	2	2	1	1	2	3	5	1	2	1	1	rs150782403		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:46746931C>T	ENST00000343304.6	-	5	1907	c.1622G>A	c.(1621-1623)cGt>cAt	p.R541H	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	541										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CACGATAGCACGTGTCAGCTC	0.637													11	37					0	0	1	0	0	T	46746931	C	T	46746931	3	4	79	1	0	0	0	0	1	0	0	0	9044	536	19	1	840	1	LRRC41	1	46746931	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	673273	46746931	202503690	17	4038											
LRRC41	10489	broad.mit.edu	37	chr1	46751327	46751327	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caccaggcccctgacgggtgCgagcacccttcttccctgca	6	7	10	18	2	1	1	0	1	1	0	2	2	2	1	5	2	3	2	5	2	0	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:46751327C>T	ENST00000343304.6	-	4	1487	c.1202G>A	c.(1201-1203)cGc>cAc	p.R401H	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	401										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CTGACGGGTGCGAGCACCCTT	0.547													32	58					0	0	1	0	0	T	46751327	C	T	46751327	3	4	79	1	0	0	0	0	1	0	0	0	9044	768	27	1	1264	1	LRRC41	1	46751327	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	4396	46751327	202499294	18	4039											
FAM73A	374986	broad.mit.edu	37	chr1	78338708	78338708	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gatcccagatggattttttgCccatttttatgccatttgtg	7	18	8	8	0	0	1	0	0	0	1	1	3	1	2	3	1	2	0	3	1	1	7	rs149790967		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:78338708C>T	ENST00000370791.3	+	15	1615	c.1583C>T	c.(1582-1584)gCc>gTc	p.A528V	FAM73A_ENST00000443751.2_Missense_Mutation_p.A491V	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	528						integral to membrane				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		GGATTTTTTGCCCATTTTTAT	0.388													23	90					0	0	1	0	0	T	78338708	C	T	78338708	3	4	79	1	0	0	0	0	1	0	0	0	5651	739	26	2	1641	2	FAM73A	1	78338708	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	31587381	78338708	170911913	19	4040											
DNAJB4	11080	broad.mit.edu	37	chr1	78479135	78479136	+	Frame_Shift_Ins	INS	-	-	A																															aaattcttaccattgagattINSaaaaaagggtggaaagaagg																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:78479135_78479136insA	ENST00000370763.5	+	2	869_870	c.612_613insA	c.(610-615)ataaaafs	p.IK204fs	GIPC2_ENST00000476882.1_Intron|DNAJB4_ENST00000487931.1_3'UTR	NM_007034.3	NP_008965.2	Q9UDY4	DNJB4_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 4	204					protein folding|response to heat|response to unfolded protein	cytoplasm|plasma membrane	heat shock protein binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						CCATTGAGATTAAAAAAGGGTG	0.356													26	75	---	---	---	---						A	78479136	-	A	78479135	7	5	79	1	0	1	1	0	0	0	0	0	4649	1742	61	0	618	0	DNAJB4	1	78479135	Frame_Shift_Ins	INS	-	TCGA-EJ-7782-01A-11D-2114-08	140427	78479135	170771486	20	4041											
DNASE2B	58511	broad.mit.edu	37	chr1	84880400	84880400	+	Frame_Shift_Del	DEL	A	A	-																															tgccaagtggtgtatttcccAaaagggcaccaaaaatcgct																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:84880400delA	ENST00000370665.3	+	6	968	c.935delA	c.(934-936)cafs	p.Q312fs	DNASE2B_ENST00000370662.3_Frame_Shift_Del_p.Q104fs	NM_021233.2	NP_067056.2	Q8WZ79	DNS2B_HUMAN	deoxyribonuclease II beta	312					DNA metabolic process	lysosome	deoxyribonuclease II activity			endometrium(1)|lung(4)|skin(1)	6				all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)		TGTATTTCCCAAAAGGGCACC	0.408													19	32	---	---	---	---						-	84880400	A	-	84880400	7	5	79	1	0	1	0	1	0	0	0	0	4692	130	5	0	957	0	DNASE2B	1	84880400	Frame_Shift_Del	DEL	A	TCGA-EJ-7782-01A-11D-2114-08	6401265	84880400	164370221	21	4042											
CLCA1	1179	broad.mit.edu	37	chr1	86942145	86942145	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacaggtagggcatttgtcCatgagtgggctcatctacga	9	11	12	9	1	3	1	2	1	1	0	4	2	4	1	1	3	1	3	1	3	2	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:86942145C>T	ENST00000234701.3	+	5	817	c.466C>T	c.(466-468)Cat>Tat	p.H156Y	CLCA1_ENST00000394711.1_Missense_Mutation_p.H156Y			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	156					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		GGCATTTGTCCATGAGTGGGC	0.353													9	28					0	0	1	0	0	T	86942145	C	T	86942145	3	4	79	1	0	0	0	0	1	0	0	0	3480	594	21	2	480	2	CLCA1	1	86942145	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	2061745	86942145	162308476	22	4043											
RPAP2	79871	broad.mit.edu	37	chr1	92789302	92789302	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgtcactgagcagttaggCgattgcaaattagatagtca	13	11	11	6	1	2	2	2	1	0	1	2	4	2	2	0	1	2	3	0	1	4	4			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:92789302C>T	ENST00000370343.3	+	8	934	c.825C>T	c.(823-825)ggC>ggT	p.G275G	RPAP2_ENST00000484158.1_3'UTR	NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	275						integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		AGCAGTTAGGCGATTGCAAAT	0.373													26	84					0	0	1	0	0	T	92789302	C	T	92789302	2	4	79	1	0	0	0	0	0	0	0	1	13594	755	27	1		1	RPAP2	1	92789302	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	5847157	92789302	156461319	23	4044											
MYBPHL	343263	broad.mit.edu	37	chr1	109838900	109838900	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagagctgggtattatagcCggtgactgtagtgcagtcgg	9	10	16	6	2	0	2	0	1	0	1	1	3	0	2	1	3	3	4	1	3	5	4	rs142341673		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:109838900C>T	ENST00000357155.1	-	6	872	c.823G>A	c.(823-825)Ggc>Agc	p.G275S	MYBPHL_ENST00000477962.1_Intron	NM_001010985.2|NM_001265613.1	NP_001010985.2|NP_001252542.1	A2RUH7	MBPHL_HUMAN	myosin binding protein H-like	275	Ig-like C2-type 2.									central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)		GTATTATAGCCGGTGACTGTA	0.592													8	40					0	0	1	0	0	T	109838900	C	T	109838900	3	4	79	1	0	0	0	0	1	0	0	0	10063	652	23	1	253	1	MYBPHL	1	109838900	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	17049598	109838900	139411721	24	4045											
AMPD2	271	broad.mit.edu	37	chr1	110171762	110171762	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaccaagggccagctggccAacttccaggagatgctggag	10	6	14	11	0	0	1	0	0	0	1	1	3	1	2	4	4	4	3	4	4	3	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:110171762A>G	ENST00000256578.3	+	13	2125	c.1765A>G	c.(1765-1767)Aac>Gac	p.N589D	AMPD2_ENST00000358729.4_Missense_Mutation_p.N514D|AMPD2_ENST00000342115.4_Missense_Mutation_p.N508D|AMPD2_ENST00000526301.1_3'UTR|RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000528667.1_Missense_Mutation_p.N589D|AMPD2_ENST00000528454.1_Missense_Mutation_p.N471D|AMPD2_ENST00000393688.3_Missense_Mutation_p.N470D	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	589					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		CCAGCTGGCCAACTTCCAGGA	0.577													13	21					0	0	1	0	0	G	110171762	A	G	110171762	3	3	79	1	0	0	0	0	1	0	0	0	582	130	5	3	1856	3	AMPD2	1	110171762	Missense_Mutation	SNP	A	TCGA-EJ-7782-01A-11D-2114-08	332862	110171762	139078859	25	4046											
ALX3	257	broad.mit.edu	37	chr1	110603475	110603475	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgtggccccccagggtgggGggaaagccatggatggagta	8	6	18	9	0	0	0	0	0	0	0	0	3	0	3	4	7	1	1	4	7	2	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:110603475G>A	ENST00000369792.4	-	4	999	c.912C>T	c.(910-912)ccC>ccT	p.P304P	RP4-773N10.4_ENST00000554749.1_RNA	NM_006492.2	NP_006483.2	O95076	ALX3_HUMAN	ALX homeobox 3	304						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)		CCAGGGTGGGGGGAAAGCCAT	0.617													6	31					0	0	1	0	0	A	110603475	G	A	110603475	2	1	79	1	0	0	0	0	0	0	0	1	553	1219	43	2		2	ALX3	1	110603475	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	431713	110603475	138647146	26	4047											
CAPZA1	829	broad.mit.edu	37	chr1	113197226	113197226	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agatggaggtctgaagtcttGgagagaatcctgtgacagtg	11	10	15	5	0	2	4	0	2	2	2	3	7	3	6	1	3	0	0	1	3	2	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:113197226G>T	ENST00000263168.3	+	5	1031	c.359G>T	c.(358-360)tGg>tTg	p.W120L	CAPZA1_ENST00000476936.1_Intron	NM_006135.2	NP_006126.1	P52907	CAZA1_HUMAN	capping protein (actin filament) muscle Z-line, alpha 1	120					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly	cytosol|extracellular region|F-actin capping protein complex|WASH complex	actin binding			breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	9	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGAAGTCTTGGAGAGAATCC	0.413													9	91					2.17888e-05	2.25002e-05	1	1	0	T	113197226	G	T	113197226	3	4	79	1	0	0	0	0	1	0	0	0	2658	1357	47	4	377	4	CAPZA1	1	113197226	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	2593751	113197226	136053395	27	4048											
PTGFRN	5738	broad.mit.edu	37	chr1	117516856	117516856	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtcctatatttaatgcttCtgtgcattcagacacaccat	11	14	6	10	0	2	1	1	0	1	1	3	1	3	1	2	1	2	2	2	1	3	6			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:117516856C>A	ENST00000393203.2	+	7	2225	c.2078C>A	c.(2077-2079)tCt>tAt	p.S693Y	PTGFRN_ENST00000496699.1_3'UTR	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	693	Ig-like C2-type 6.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		TTTAATGCTTCTGTGCATTCA	0.423													32	61					5.91797e-21	6.45365e-21	1	1	0	A	117516856	C	A	117516856	3	1	79	1	0	0	0	0	1	0	0	0	12800	913	32	4	2104	4	PTGFRN	1	117516856	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	4319630	117516856	131733765	28	4049											
BCL9	607	broad.mit.edu	37	chr1	147090766	147090766	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccagcacccaagcctgccGcacccccacgtcccctggac	8	3	7	23	2	0	0	0	0	0	0	1	1	1	1	8	1	3	2	8	1	1	0			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:147090766G>A	ENST00000234739.3	+	8	1545	c.805G>A	c.(805-807)Gca>Aca	p.A269T		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	269	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CAAGCCTGCCGCACCCCCACG	0.607			T	"IGH@, IGL@"	B-ALL								29	63					0	0	1	0	0	A	147090766	G	A	147090766	3	1	79	1	0	0	0	0	1	0	0	0	1379	1087	38	1	823	1	BCL9	1	147090766	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	29573910	147090766	102159855	29	4050											
TARS2	80222	broad.mit.edu	37	chr1	150469374	150469374	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtataatgcactagtggCgtttatcagggtaaggggac	10	11	15	5	1	1	0	1	0	0	0	1	1	1	1	0	5	1	4	0	5	5	6			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:150469374C>T	ENST00000369064.3	+	9	1044	c.1010C>T	c.(1009-1011)gCg>gTg	p.A337V	TARS2_ENST00000463555.1_Intron|TARS2_ENST00000369054.2_Intron|TARS2_ENST00000438568.2_3'UTR|TARS2_ENST00000606933.1_Intron	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	337					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity	p.A337V(1)		cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	GCACTAGTGGCGTTTATCAGG	0.527													5	32					0	0	1	0	0	T	150469374	C	T	150469374	3	4	79	1	0	0	0	0	1	0	0	0	15617	768	27	1	1044	1	TARS2	1	150469374	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	3378608	150469374	98781247	30	4051											
RPTN	126638	broad.mit.edu	37	chr1	152128424	152128424	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgagaactctgatcttgtGtgtctggctgaccatagtgg	8	13	13	7	0	3	3	0	3	3	1	3	4	3	3	1	2	1	1	1	2	2	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr1:152128424G>A	ENST00000316073.3	-	3	1215	c.1151C>T	c.(1150-1152)aCa>aTa	p.T384I		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	384	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CTGATCTTGTGTGTCTGGCTG	0.473													27	676					0	0	1	0	0	A	152128424	G	A	152128424	3	1	79	1	0	0	0	0	1	0	0	0	13716	1377	48	2	1207	2	RPTN	1	152128424	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	1659050	152128424	97122197	31	4052											
S100A4	6275	broad.mit.edu	37	chr1	153516337	153516337	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tactcttggaagtccacctcGttgtccctgttgctgtccaa	6	14	8	13	1	1	0	0	0	1	0	5	1	4	1	4	1	2	3	4	1	3	4	rs111468775	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:153516337G>A	ENST00000368716.4	-	3	351	c.204C>T	c.(202-204)aaC>aaT	p.N68N	S100A4_ENST00000354332.4_Silent_p.N68N|S100A4_ENST00000368714.1_Silent_p.N68N|S100A4_ENST00000368715.1_Silent_p.N68N|S100A4_ENST00000481009.1_5'UTR	NM_002961.2	NP_002952.1	P26447	S10A4_HUMAN	S100 calcium binding protein A4	68	EF-hand 2.				epithelial to mesenchymal transition|positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus|perinuclear region of cytoplasm	calcium ion binding|RAGE receptor binding			large_intestine(2)|lung(1)|prostate(1)	4	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGTCCACCTCGTTGTCCCTGT	0.483													14	128					0	0	1	0	0	A	153516337	G	A	153516337	2	1	79	1	0	0	0	0	0	0	0	1	13832	1136	40	1		1	S100A4	1	153516337	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	1387913	153516337	95734284	32	4053											
C1orf43	25912	broad.mit.edu	37	chr1	154179947	154179947	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcacagagtactctccaaTgtgttatagttatccttaaa	12	14	6	9	1	2	1	1	0	1	1	4	1	3	1	2	0	1	3	2	0	7	5			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:154179947T>A	ENST00000368521.5	-	7	942	c.744A>T	c.(742-744)acA>acT	p.T248T	C1orf43_ENST00000368519.1_Silent_p.T230T|C1orf43_ENST00000350592.3_Silent_p.T214T|C1orf43_ENST00000483282.1_5'UTR|C1orf43_ENST00000362076.4_Silent_p.T196T	NM_001098616.1	NP_001092086.1	Q9BWL3	CA043_HUMAN	chromosome 1 open reading frame 43	248						integral to membrane	coenzyme binding|oxidoreductase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)					TACTCTCCAATGTGTTATAGT	0.507													29	61					0	0	1	0	0	A	154179947	T	A	154179947	2	1	79	1	0	0	0	0	0	0	0	1	2054	1451	51	5		5	C1orf43	1	154179947	Silent	SNP	T	TCGA-EJ-7782-01A-11D-2114-08	663610	154179947	95070674	33	4054											
LMNA	4000	broad.mit.edu	37	chr1	156104218	156104218	+	Frame_Shift_Del	DEL	A	A	-																															aggcagccctaggtgaggccAagaagcaacttcaggatgag																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:156104218delA	ENST00000368300.4	+	3	750	c.538delA	c.(538-540)agfs	p.K181fs	LMNA_ENST00000368297.1_Frame_Shift_Del_p.K100fs|LMNA_ENST00000473598.2_Frame_Shift_Del_p.K82fs|LMNA_ENST00000347559.2_Frame_Shift_Del_p.K181fs|LMNA_ENST00000368301.2_Frame_Shift_Del_p.K181fs|LMNA_ENST00000392353.3_Frame_Shift_Del_p.K100fs|LMNA_ENST00000368299.3_Frame_Shift_Del_p.K181fs|LMNA_ENST00000361308.4_Frame_Shift_Del_p.K181fs|LMNA_ENST00000448611.2_Frame_Shift_Del_p.K69fs	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C	181	Coil 1B.|Rod.				cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					AGGTGAGGCCAAGAAGCAACT	0.542									Werner syndrome;Hutchinson-Gilford Progeria Syndrome				15	33	---	---	---	---						-	156104218	A	-	156104218	7	5	79	1	0	1	0	1	0	0	0	0	8889	131	5	0	548	0	LMNA	1	156104218	Frame_Shift_Del	DEL	A	TCGA-EJ-7782-01A-11D-2114-08	1924271	156104218	93146403	34	4055											
CCT3	7203	broad.mit.edu	37	chr1	156288708	156288708	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagaatccagcagcacaatgCgagggttcttgatatagcgc	13	8	11	9	2	1	2	0	1	1	1	2	3	2	2	1	1	4	3	1	1	5	4			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:156288708C>T	ENST00000295688.3	-	8	990	c.710G>A	c.(709-711)cGc>cAc	p.R237H	CCT3_ENST00000472765.2_Missense_Mutation_p.R192H|CCT3_ENST00000368259.2_Missense_Mutation_p.R199H|CCT3_ENST00000368261.3_Missense_Mutation_p.R192H	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)	237					'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					CAGCACAATGCGAGGGTTCTT	0.463													16	34					0	0	1	0	0	T	156288708	C	T	156288708	3	4	79	1	0	0	0	0	1	0	0	0	2976	768	27	1	955	1	CCT3	1	156288708	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	184490	156288708	92961913	35	4056											
CCDC19	25790	broad.mit.edu	37	chr1	159860404	159860404	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggctgtcgctctggccctgGgctggggactatgagttcag	4	10	17	10	1	2	1	1	1	1	0	3	2	2	2	1	5	0	4	1	5	1	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:159860404G>C	ENST00000368099.4	-	3	202	c.138C>G	c.(136-138)gcC>gcG	p.A46A	CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000426543.2_5'UTR	NM_012337.2	NP_036469.2	Q9UL16	CCD19_HUMAN	coiled-coil domain containing 19	46						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			TCTGGCCCTGGGCTGGGGACT	0.532													4	55					0	0	1	0	0	C	159860404	G	C	159860404	2	2	79	1	0	0	0	0	0	0	0	1	2814	1219	43	4		4	CCDC19	1	159860404	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	3571696	159860404	89390217	36	4057											
NCSTN	23385	broad.mit.edu	37	chr1	160314573	160314573	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttaaataaaacagctccCtgtgttcgcctgctcaacgc	10	10	6	15	2	1	0	1	0	0	0	3	0	2	0	3	0	4	3	3	0	5	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:160314573C>A	ENST00000368063.1	+	3	367	c.87C>A	c.(85-87)ccC>ccA	p.P29P	NCSTN_ENST00000392212.4_Silent_p.P29P|NCSTN_ENST00000294785.5_Silent_p.P49P|NCSTN_ENST00000535857.1_Silent_p.P49P			Q92542	NICA_HUMAN	nicastrin	49					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AAACAGCTCCCTGTGTTCGCC	0.428													4	23					0.00024832	0.000253838	1	1	0	A	160314573	C	A	160314573	2	1	79	1	0	0	0	0	0	0	0	1	10288	668	24	4		4	NCSTN	1	160314573	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	454169	160314573	88936048	37	4058											
NUF2	83540	broad.mit.edu	37	chr1	163317627	163317627	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagactgaagaaaattcgttCaaaagactgatgattgtgaa	18	10	9	4	1	1	7	1	4	0	3	2	7	1	7	0	0	0	1	0	0	7	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:163317627C>T	ENST00000271452.3	+	12	1302	c.1023C>T	c.(1021-1023)ttC>ttT	p.F341F	NUF2_ENST00000367900.3_Silent_p.F341F|NUF2_ENST00000524800.1_Silent_p.F294F	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	341	Interaction with the N-terminus of NDC80.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					AAAATTCGTTCAAAAGACTGA	0.338													4	34					0	0	1	0	0	T	163317627	C	T	163317627	2	4	79	1	0	0	0	0	0	0	0	1	10795	825	29	2		2	NUF2	1	163317627	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	3003054	163317627	85932994	38	4059											
HMCN1	83872	broad.mit.edu	37	chr1	186009011	186009011	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtttttctaatggattacaGgtaccttcattcatttcttt	9	20	5	7	0	4	0	2	0	2	0	4	1	4	1	1	2	2	2	1	2	3	9			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:186009011G>A	ENST00000271588.4	+	39	6409	c.6180_splice	c.e39+1	p.Q2060_splice	HMCN1_ENST00000367492.2_Splice_Site_p.Q2060_splice	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2060	Ig-like C2-type 18.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATGGATTACAGGTACCTTCAT	0.413													10	31					0	0	1	0	0	A	186009011	G	A	186009011	5	1	79	1	0	0	0	0	0	0	1	0	7261	1014	35	2	6334	2	HMCN1	1	186009011	Splice_Site	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	22691384	186009011	63241610	39	4060											
PRG4	10216	broad.mit.edu	37	chr1	186280171	186280171	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttccttaaattttaggtcatTatttctggatgctaagtcca	10	18	6	7	0	2	0	1	0	1	0	4	1	4	1	2	2	1	1	2	2	5	7			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:186280171T>C	ENST00000445192.2	+	9	3550	c.3505T>C	c.(3505-3507)Tat>Cat	p.Y1169H	PRG4_ENST00000367485.4_Missense_Mutation_p.Y1076H|PRG4_ENST00000367486.3_Missense_Mutation_p.Y1126H|PRG4_ENST00000367484.3_Missense_Mutation_p.Y698H|PRG4_ENST00000367483.4_Missense_Mutation_p.Y1128H	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	1169	Hemopexin-like 1.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						TTTAGGTCATTATTTCTGGAT	0.368													15	40					0	0	1	0	0	C	186280171	T	C	186280171	3	2	79	1	0	0	0	0	1	0	0	0	12533	1754	61	3	3535	3	PRG4	1	186280171	Missense_Mutation	SNP	T	TCGA-EJ-7782-01A-11D-2114-08	271160	186280171	62970450	40	4061											
LAD1	3898	broad.mit.edu	37	chr1	201358366	201358366	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgtggtggagctcaggttgCggtgccgccgcctgcgctcg	2	8	17	14	6	1	0	1	0	0	0	2	1	1	1	4	4	4	3	4	4	0	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:201358366C>T	ENST00000391967.2	-	2	405	c.104G>A	c.(103-105)cGc>cAc	p.R35H	LAD1_ENST00000367313.3_Missense_Mutation_p.R49H	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	35	Poly-Arg.					basement membrane	structural molecule activity	p.R35L(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						GCTCAGGTTGCGGTGCCGCCG	0.657													5	24					0	0	1	0	0	T	201358366	C	T	201358366	3	4	79	1	0	0	0	0	1	0	0	0	8638	768	27	1	1485	1	LAD1	1	201358366	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	15078195	201358366	47892255	41	4062											
PLXNA2	5362	broad.mit.edu	37	chr1	208390533	208390533	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagcccccactagcaaagccGtagatgtagaagatgtcaaa	16	6	9	10	1	1	3	1	0	0	3	1	3	1	3	3	0	3	3	3	0	7	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:208390533G>A	ENST00000367033.3	-	2	1492	c.735C>T	c.(733-735)taC>taT	p.Y245Y		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	245	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TAGCAAAGCCGTAGATGTAGA	0.537													39	124					0	0	1	0	0	A	208390533	G	A	208390533	2	1	79	1	0	0	0	0	0	0	0	1	12168	1140	40	1		1	PLXNA2	1	208390533	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	7032167	208390533	40860088	42	4063											
TP53BP2	7159	broad.mit.edu	37	chr1	223971888	223971888	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaccattcgatttcatcttCgtcttccctgtggatgattg	6	16	7	12	2	3	1	1	1	2	0	6	3	4	2	3	1	0	0	3	1	0	5			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:223971888C>T	ENST00000391878.2	-	18	3673	c.2905G>A	c.(2905-2907)Gaa>Aaa	p.E969K	TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000391879.2_Missense_Mutation_p.E331K|TP53BP2_ENST00000343537.7_Missense_Mutation_p.E1098K	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2	1092	Mediates interaction with APC2.				apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		ATTTCATCTTCGTCTTCCCTG	0.448													32	76					0	0	1	0	0	T	223971888	C	T	223971888	3	4	79	1	0	0	0	0	1	0	0	0	16445	893	31	1	120	1	TP53BP2	1	223971888	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	15581355	223971888	25278733	43	4064											
EPHX1	2052	broad.mit.edu	37	chr1	226016443	226016443	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caggagccatgtggctagaaAtcctcctcacttcagtgctg	9	10	10	12	0	2	1	2	0	0	1	4	2	4	2	3	2	2	2	3	2	2	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:226016443A>G	ENST00000366837.4	+	2	209	c.13A>G	c.(13-15)Atc>Gtc	p.I5V	EPHX1_ENST00000272167.5_Missense_Mutation_p.I5V	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	5					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					GTGGCTAGAAATCCTCCTCAC	0.587													4	19					0	0	1	0	0	G	226016443	A	G	226016443	3	3	79	1	0	0	0	0	1	0	0	0	5207	101	4	3	15	3	EPHX1	1	226016443	Missense_Mutation	SNP	A	TCGA-EJ-7782-01A-11D-2114-08	2044555	226016443	23234178	44	4065											
PYCR2	29920	broad.mit.edu	37	chr1	226109030	226109030	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagacattgtccttaagctgGcatggatgctgctccgagtc	8	11	11	11	1	0	1	0	0	0	1	3	3	2	2	2	2	3	4	2	2	1	2	rs150765933		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:226109030G>A	ENST00000343818.6	-	6	823	c.675C>T	c.(673-675)tgC>tgT	p.C225C	PYCR2_ENST00000478402.1_5'UTR|RP4-559A3.7_ENST00000432920.2_Silent_p.C151C	NM_013328.2	NP_037460.2	Q96C36	P5CR2_HUMAN	pyrroline-5-carboxylate reductase family, member 2	225					proline biosynthetic process	cytoplasm	binding|pyrroline-5-carboxylate reductase activity			kidney(1)|lung(3)	4	Breast(184;0.197)				L-Proline(DB00172)|NADH(DB00157)	CCTTAAGCTGGCATGGATGCT	0.572													12	12					0	0	1	0	0	A	226109030	G	A	226109030	2	1	79	1	0	0	0	0	0	0	0	1	12908	1195	42	2		2	PYCR2	1	226109030	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	92587	226109030	23141591	45	4066											
OBSCN	84033	broad.mit.edu	37	chr1	228475944	228475944	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgtgtgagctgcagatcCgtggcctggccatggtggat	6	10	15	10	1	0	2	0	1	0	1	1	3	1	3	4	4	2	2	4	4	0	0			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:228475944C>T	ENST00000570156.2	+	42	11355	c.11281C>T	c.(11281-11283)Cgt>Tgt	p.R3761C	OBSCN_ENST00000366709.4_Missense_Mutation_p.R451C|OBSCN_ENST00000422127.1_Missense_Mutation_p.R3332C|OBSCN_ENST00000366707.4_Missense_Mutation_p.R451C|OBSCN_ENST00000284548.11_Missense_Mutation_p.R3332C|OBSCN_ENST00000359599.6_Missense_Mutation_p.R2179C	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2797	Ig-like 38.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCTGCAGATCCGTGGCCTGGC	0.607													17	42					0	0	1	0	0	T	228475944	C	T	228475944	3	4	79	1	0	0	0	0	1	0	0	0	10860	652	23	1	10136	1	OBSCN	1	228475944	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	2366914	228475944	20774677	46	4067											
TTC13	79573	broad.mit.edu	37	chr1	231057237	231057237	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atattctaggtatctcatgtTgatcacctgacccctataag	11	14	6	10	0	3	2	2	2	2	0	4	2	3	2	3	1	0	2	3	1	5	7			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:231057237T>C	ENST00000366661.4	-	16	1835	c.1828A>G	c.(1828-1830)Aac>Gac	p.N610D	TTC13_ENST00000366662.4_Missense_Mutation_p.N557D|TTC13_ENST00000414259.1_Missense_Mutation_p.N557D	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	610							binding			central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		TATCTCATGTTGATCACCTGA	0.259													6	47					0	0	1	0	0	C	231057237	T	C	231057237	3	2	79	1	0	0	0	0	1	0	0	0	16742	1812	63	3	786	3	TTC13	1	231057237	Missense_Mutation	SNP	T	TCGA-EJ-7782-01A-11D-2114-08	2581293	231057237	18193384	47	4068											
ARID4B	51742	broad.mit.edu	37	chr1	235416114	235416114	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagtgtcttctcatctccGtcatcaaaaactatgagagg	11	12	7	11	1	6	1	4	1	3	1	8	2	6	1	1	1	1	0	1	1	3	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:235416114G>A	ENST00000264183.3	-	6	782	c.285C>T	c.(283-285)gaC>gaT	p.D95D	ARID4B_ENST00000366603.2_Silent_p.D95D|ARID4B_ENST00000349213.3_Silent_p.D95D	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	95					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TCTCATCTCCGTCATCAAAAA	0.378													12	32					0	0	1	0	0	A	235416114	G	A	235416114	2	1	79	1	0	0	0	0	0	0	0	1	917	1136	40	1		1	ARID4B	1	235416114	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	4358877	235416114	13834507	48	4069											
C1orf101	257044	broad.mit.edu	37	chr1	244724125	244724125	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgaccatagacagggttgaGtatacaggacaccctctgga	12	8	11	10	0	1	3	0	2	1	1	1	5	1	5	2	3	1	2	2	3	3	4			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:244724125G>A	ENST00000366534.4	+	10	1239	c.1185G>A	c.(1183-1185)gaG>gaA	p.E395E	C1orf101_ENST00000366531.3_Silent_p.E244E|C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366533.4_Silent_p.E395E	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	395						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			ACAGGGTTGAGTATACAGGAC	0.368													25	51					0	0	1	0	0	A	244724125	G	A	244724125	2	1	79	1	0	0	0	0	0	0	0	1	1989	1020	36	2		2	C1orf101	1	244724125	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	9308011	244724125	4526496	49	4070											
OR2M2	391194	broad.mit.edu	37	chr1	248343968	248343968	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttattctggctgtcattcaCatgggatctggagagggtcg	7	13	14	7	1	4	1	2	0	2	1	5	3	4	2	0	4	0	2	0	4	1	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:248343968C>T	ENST00000359682.2	+	1	681	c.681C>T	c.(679-681)caC>caT	p.H227H		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CTGTCATTCACATGGGATCTG	0.433													9	167					0	0	1	0	0	T	248343968	C	T	248343968	2	4	79	1	0	0	0	0	0	0	0	1	11058	477	17	2		2	OR2M2	1	248343968	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	3619843	248343968	906653	50	4071											
OR2T27	403239	broad.mit.edu	37	chr1	248813806	248813806	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggatagtgcagagggttgCagatggctacgtagcgatca	11	8	15	7	2	1	2	1	0	0	2	1	4	1	3	0	3	4	5	0	3	3	4			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:248813806C>A	ENST00000344889.3	-	1	379	c.380G>T	c.(379-381)tGc>tTc	p.C127F		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CAGAGGGTTGCAGATGGCTAC	0.542													14	117					9.16793e-09	9.66453e-09	1	1	0	A	248813806	C	A	248813806	3	1	79	1	0	0	0	0	1	0	0	0	11069	710	25	4	576	4	OR2T27	1	248813806	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	469838	248813806	436815	51	4072											
PGBD2	0	broad.mit.edu	37	chr1	249211828	249211828	+	Frame_Shift_Del	DEL	T	T	-																															gttttctgccatatcacataTtttttgacaaggttttcaca																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr1:249211828delT	ENST00000355360.4	+	3	562	c.292delT	c.(292-294)ttfs	p.F99fs	PGBD2_ENST00000539153.1_Frame_Shift_Del_p.F347fs|PGBD2_ENST00000329291.5_Frame_Shift_Del_p.F350fs	NM_001017434.1	NP_001017434.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	350										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			ATATCACATATTTTTTGACAA	0.438													7	144	---	---	---	---						-	249211828	T	-	249211828	7	5	79	1	0	1	0	1	0	0	0	0	11829	1493	52	0	1051	0	PGBD2	1	249211828	Frame_Shift_Del	DEL	T	TCGA-EJ-7782-01A-11D-2114-08	398022	249211828	38793	52	4073											
DNMT3A	1788	broad.mit.edu	37	chr2	25463271	25463271	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catctccctccttgggccgcGcatcatgcaggaggcggtag	6	8	13	14	3	2	0	1	0	1	0	4	1	3	1	3	4	1	3	3	4	1	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:25463271G>A	ENST00000264709.3	-	19	2559	c.2222C>T	c.(2221-2223)gCg>gTg	p.A741V	DNMT3A_ENST00000380746.4_Missense_Mutation_p.A552V|DNMT3A_ENST00000321117.5_Missense_Mutation_p.A741V|DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000402667.1_Missense_Mutation_p.A518V	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	741					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	p.A741V(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTGGGCCGCGCATCATGCAG	0.572			"Mis, F, N, S"		AML								25	45					0	0	1	0	0	A	25463271	G	A	25463271	3	1	79	1	0	0	0	0	1	0	0	0	4703	1087	38	1	536	1	DNMT3A	2	25463271	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08		25463271	217736102	53	4074											
VIT	5212	broad.mit.edu	37	chr2	37035644	37035644	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaacaaacggcttctactcGctccacgtgcagagctggtt	10	9	10	12	3	1	2	0	0	1	2	3	2	2	2	1	2	5	5	1	2	3	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:37035644G>A	ENST00000379242.3	+	15	1721	c.1419G>A	c.(1417-1419)tcG>tcA	p.S473S	VIT_ENST00000379241.3_Silent_p.S436S|VIT_ENST00000401530.1_Silent_p.S437S|VIT_ENST00000497382.1_Silent_p.S127S|VIT_ENST00000404084.1_Silent_p.S410S|VIT_ENST00000389975.3_Silent_p.S458S	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	458	VWFA 1.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				GCTTCTACTCGCTCCACGTGC	0.597													11	15					0	0	1	0	0	A	37035644	G	A	37035644	2	1	79	1	0	0	0	0	0	0	0	1	17231	1074	38	1		1	VIT	2	37035644	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	11572373	37035644	206163729	54	4075											
DHX57	90957	broad.mit.edu	37	chr2	39095333	39095333	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttataatgacctggaagggCgccttgattcactgaagata	12	11	11	7	1	1	4	1	3	0	1	1	5	1	5	2	2	0	1	2	2	5	5			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:39095333C>T	ENST00000295373.6	-	2	341	c.215G>A	c.(214-216)cGc>cAc	p.R72H		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	72							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				CCTGGAAGGGCGCCTTGATTC	0.458													7	57					0	0	1	0	0	T	39095333	C	T	39095333	3	4	79	1	0	0	0	0	1	0	0	0	4541	768	27	1	4037	1	DHX57	2	39095333	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	2059689	39095333	204104040	55	4076											
MSH2	4436	broad.mit.edu	37	chr2	47693894	47693895	+	Frame_Shift_Ins	INS	-	-	A																															aaaaagtccttcgtaacaatINSaaaaactttagtactgtaga																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:47693894_47693895insA	ENST00000406134.1	+	10	1670_1671	c.1608_1609insA	c.(1606-1611)aaaaaafs	p.KK536fs	MSH2_ENST00000543555.1_Frame_Shift_Ins_p.KK470fs|MSH2_ENST00000233146.2_Frame_Shift_Ins_p.KK536fs			P43246	MSH2_HUMAN	mutS homolog 2	536					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.0?(2)|p.?(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTCGTAACAATAAAAACTTTAG	0.342			"D, Mis, N, F, S"		"colorectal, endometrial, ovarian"	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				22	40	---	---	---	---						A	47693895	-	A	47693894	7	5	79	1	0	1	1	0	0	0	0	0	9919	1403	49	0	1646	0	MSH2	2	47693894	Frame_Shift_Ins	INS	-	TCGA-EJ-7782-01A-11D-2114-08	8598561	47693894	195505479	56	4077											
APLF	200558	broad.mit.edu	37	chr2	68717386	68717386	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggtggtcagctgcgaaTcaaaccggtaaatatgttat	12	10	12	7	2	2	0	2	0	0	0	2	1	2	0	1	4	3	4	1	4	6	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:68717386T>C	ENST00000303795.4	+	2	332	c.161T>C	c.(160-162)aTc>aCc	p.I54T		NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	54	FHA-like.				double-strand break repair|single strand break repair	cytosol|nucleus	3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						CAGCTGCGAATCAAACCGGTA	0.368													3	8					0	0	1	0	0	C	68717386	T	C	68717386	3	2	79	1	0	0	0	0	1	0	0	0	772	1435	50	3	167	3	APLF	2	68717386	Missense_Mutation	SNP	T	TCGA-EJ-7782-01A-11D-2114-08	21023492	68717386	174481987	57	4078											
SNRNP200	23020	broad.mit.edu	37	chr2	96955623	96955623	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgaaccagatctagtcggcGctggtccagcaggggatctc	9	8	13	11	2	2	2	0	1	2	1	5	3	3	3	2	4	2	2	2	4	2	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:96955623G>A	ENST00000323853.5	-	21	2931	c.2854C>T	c.(2854-2856)Cgc>Tgc	p.R952C	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	952						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						TCTAGTCGGCGCTGGTCCAGC	0.552													5	73					0	0	1	0	0	A	96955623	G	A	96955623	3	1	79	1	0	0	0	0	1	0	0	0	14906	1087	38	1	3656	1	SNRNP200	2	96955623	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	28238237	96955623	146243750	58	4079											
TMEM131	23505	broad.mit.edu	37	chr2	98418415	98418415	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctatctttgccaccttactCaagttaaacctaaaacaaaa	16	12	2	11	0	3	0	1	0	2	0	3	0	3	0	3	0	4	1	3	0	9	5			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:98418415C>G	ENST00000186436.5	-	25	2889	c.2661G>C	c.(2659-2661)ttG>ttC	p.L887F		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	887						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						CCACCTTACTCAAGTTAAACC	0.299													10	15					0	0	1	0	0	G	98418415	C	G	98418415	3	3	79	1	0	0	0	0	1	0	0	0	16104	825	29	4	3058	4	TMEM131	2	98418415	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	1462792	98418415	144780958	59	4080											
PDCL3	79031	broad.mit.edu	37	chr2	101183001	101183001	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgaatggaatgacatcttaCgcaaaaagggtatcttaccc	14	10	8	9	1	2	2	0	2	2	0	2	3	2	3	1	2	2	2	1	2	7	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:101183001C>T	ENST00000264254.6	+	2	421	c.43C>T	c.(43-45)Cgc>Tgc	p.R15C		NM_024065.4	NP_076970.1	Q9H2J4	PDCL3_HUMAN	phosducin-like 3	15					apoptosis|interspecies interaction between organisms	cytoplasm	protein binding			endometrium(3)|large_intestine(2)|liver(1)|lung(6)	12						TGACATCTTACGCAAAAAGGG	0.517													8	58					0	0	1	0	0	T	101183001	C	T	101183001	3	4	79	1	0	0	0	0	1	0	0	0	11675	536	19	1	49	1	PDCL3	2	101183001	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	2764586	101183001	142016372	60	4081											
ZC3H6	376940	broad.mit.edu	37	chr2	113069447	113069447	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttgccgaagaaaatcaaacGaaaagaacgtgggggaagaa	19	4	12	6	3	1	3	1	0	0	3	1	6	1	4	1	2	3	0	1	2	9	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:113069447G>A	ENST00000409871.1	+	5	1081	c.680G>A	c.(679-681)cGa>cAa	p.R227Q	ZC3H6_ENST00000343936.4_Missense_Mutation_p.R227Q	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	227							nucleic acid binding|zinc ion binding	p.R227Q(1)		central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						AAAATCAAACGAAAAGAACGT	0.368													9	21					0	0	1	0	0	A	113069447	G	A	113069447	3	1	79	1	0	0	0	0	1	0	0	0	17630	1058	37	1	698	1	ZC3H6	2	113069447	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	11886446	113069447	130129926	61	4082											
EPB41L5	57669	broad.mit.edu	37	chr2	120776691	120776691	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttccgtagaacactagggCgtcggtctatgcgtaaacat	10	11	10	10	4	2	1	0	0	2	1	4	1	3	1	1	2	3	2	1	2	6	5			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:120776691C>T	ENST00000263713.5	+	2	245	c.31C>T	c.(31-33)Cgt>Tgt	p.R11C	EPB41L5_ENST00000331393.4_Missense_Mutation_p.R11C|EPB41L5_ENST00000443902.2_Missense_Mutation_p.R11C|EPB41L5_ENST00000452780.1_Missense_Mutation_p.R11C|EPB41L5_ENST00000443124.1_Missense_Mutation_p.R11C	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	11						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						AACACTAGGGCGTCGGTCTAT	0.453													10	124					0	0	1	0	0	T	120776691	C	T	120776691	3	4	79	1	0	0	0	0	1	0	0	0	5185	768	27	1	33	1	EPB41L5	2	120776691	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	7707244	120776691	122422682	62	4083											
GLI2	2736	broad.mit.edu	37	chr2	121708835	121708835	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaggccccctgccctcagcGgcagccctgtcatctctgac	5	7	10	19	1	3	1	2	1	1	0	4	1	3	1	4	2	3	2	4	2	0	0			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:121708835G>A	ENST00000452319.1	+	4	331	c.271G>A	c.(271-273)Ggc>Agc	p.G91S	GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Missense_Mutation_p.G91S			P10070	GLI2_HUMAN	GLI family zinc finger 2	91					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				TGCCCTCAGCGGCAGCCCTGT	0.632													7	115					0	0	1	0	0	A	121708835	G	A	121708835	3	1	79	1	0	0	0	0	1	0	0	0	6480	1116	39	1	281	1	GLI2	2	121708835	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	932144	121708835	121490538	63	4084											
MCM6	4175	broad.mit.edu	37	chr2	136605708	136605708	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggtgtttccacacggatGattgatttattcagtaaccg	10	14	9	8	2	2	2	2	2	0	0	3	3	3	3	2	2	1	2	2	2	2	6			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:136605708G>T	ENST00000264156.2	-	14	2028	c.1968C>A	c.(1966-1968)atC>atA	p.I656I	MCM6_ENST00000492091.1_5'UTR	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	656					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	CCACACGGATGATTGATTTAT	0.393													5	25					0.000602214	0.000614356	1	1	0	T	136605708	G	T	136605708	2	4	79	1	0	0	0	0	0	0	0	1	9441	1280	45	4		4	MCM6	2	136605708	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	14896873	136605708	106593665	64	4085											
ACVR2A	92	broad.mit.edu	37	chr2	148602758	148602758	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agttggcgtttgccgtctttCttatctcctgttcttcaggt	3	19	9	10	2	5	0	1	0	4	0	6	0	5	0	2	2	1	3	2	2	1	6			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:148602758C>G	ENST00000241416.7	+	1	673	c.37C>G	c.(37-39)Ctt>Gtt	p.L13V	ACVR2A_ENST00000404590.1_Missense_Mutation_p.L13V|ACVR2A_ENST00000535787.1_Intron	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	13				L -> V (in Ref. 4; BAA06548).	activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		TGCCGTCTTTCTTATCTCCTG	0.647													14	23					0	0	1	0	0	G	148602758	C	G	148602758	3	3	79	1	0	0	0	0	1	0	0	0	222	913	32	4	39	4	ACVR2A	2	148602758	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	11997050	148602758	94596615	65	4086											
SLC38A11	151258	broad.mit.edu	37	chr2	165809221	165809221	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttatatagtattttacctgtAacatatgaaacccagaataa	17	14	4	6	0	0	2	0	1	0	1	0	2	0	2	2	0	3	2	2	0	10	9			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:165809221A>G	ENST00000303735.4	-	2	387	c.57T>C	c.(55-57)gtT>gtC	p.V19V	SLC38A11_ENST00000409662.1_Silent_p.V19V|SLC38A11_ENST00000409058.1_Intron|SLC38A11_ENST00000409149.3_Silent_p.V19V	NM_173512.2	NP_775783.1	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	19					amino acid transport|sodium ion transport	integral to membrane				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						TTTTACCTGTAACATATGAAA	0.363													5	29					0	0	1	0	0	G	165809221	A	G	165809221	2	3	79	1	0	0	0	0	0	0	0	1	14658	349	13	3		3	SLC38A11	2	165809221	Silent	SNP	A	TCGA-EJ-7782-01A-11D-2114-08	17206463	165809221	77390152	66	4087											
GALNT3	2591	broad.mit.edu	37	chr2	166621492	166621492	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctaagcaacgtggaccacGcttcattatgaaaaactatt	14	12	6	9	2	2	1	1	1	1	0	2	2	2	2	1	1	3	2	1	1	6	6			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:166621492G>A	ENST00000392701.3	-	3	1365	c.590C>T	c.(589-591)gCg>gTg	p.A197V		NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)	197	Catalytic subdomain A.				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						CGTGGACCACGCTTCATTATG	0.423													17	26					0	0	1	0	0	A	166621492	G	A	166621492	3	1	79	1	0	0	0	0	1	0	0	0	6254	1087	38	1	1347	1	GALNT3	2	166621492	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	812271	166621492	76577881	67	4088											
TTN	7273	broad.mit.edu	37	chr2	179440959	179440959	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaagatcaggaacaacgaaCtgagtgattctgagggcggt	13	8	14	6	2	2	5	1	4	1	1	2	7	2	6	0	3	3	0	0	3	4	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:179440959C>T	ENST00000589042.1	-	326	70124	c.69900G>A	c.(69898-69900)caG>caA	p.Q23300Q	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Silent_p.Q20732Q|TTN_ENST00000359218.5_Silent_p.Q14360Q|TTN_ENST00000342175.6_Silent_p.Q14427Q|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000591111.1_Silent_p.Q21659Q|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Silent_p.Q14235Q|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21659	Fibronectin type-III 69.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAACAACGAACTGAGTGATTC	0.468													5	32					0	0	1	0	0	T	179440959	C	T	179440959	2	4	79	1	0	0	0	0	0	0	0	1	16797	564	20	2		2	TTN	2	179440959	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	12819467	179440959	63758414	68	4089											
DNAH7	56171	broad.mit.edu	37	chr2	196729067	196729067	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgctggcgatctaactgacGcatcttatcacatatctctt	9	13	6	13	3	4	1	1	1	3	0	5	2	4	1	1	1	1	2	1	1	3	4			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:196729067G>A	ENST00000312428.6	-	41	7412	c.7312C>T	c.(7312-7314)Cgt>Tgt	p.R2438C		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2438	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R2438C(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCTAACTGACGCATCTTATCA	0.433													5	75					0	0	1	0	0	A	196729067	G	A	196729067	3	1	79	1	0	0	0	0	1	0	0	0	4633	1087	38	1	4862	1	DNAH7	2	196729067	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	17288108	196729067	46470306	69	4090											
PARD3B	117583	broad.mit.edu	37	chr2	206480515	206480515	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaggattcccggcagaagaAccccatgactgcagccgtat	11	6	10	14	2	0	3	0	1	0	2	1	4	1	4	5	2	3	3	5	2	3	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:206480515A>G	ENST00000406610.2	+	23	3803	c.3596A>G	c.(3595-3597)aAc>aGc	p.N1199S	PARD3B_ENST00000488622.1_3'UTR|PARD3B_ENST00000351153.1_Missense_Mutation_p.N1130S|PARD3B_ENST00000349953.3_Missense_Mutation_p.N1098S|PARD3B_ENST00000358768.2_Missense_Mutation_p.N1137S	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	1199					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CGGCAGAAGAACCCCATGACT	0.582													10	41					0	0	1	0	0	G	206480515	A	G	206480515	3	3	79	1	0	0	0	0	1	0	0	0	11491	43	2	3	3686	3	PARD3B	2	206480515	Missense_Mutation	SNP	A	TCGA-EJ-7782-01A-11D-2114-08	9751448	206480515	36718858	70	4091											
INHA	3623	broad.mit.edu	37	chr2	220439863	220439863	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcaactcccctgatgtcctGgccttggtctccctctgctc	3	13	7	18	0	3	1	1	1	2	0	7	1	5	1	5	2	2	1	5	2	1	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:220439863G>A	ENST00000243786.2	+	2	896	c.716G>A	c.(715-717)tGg>tAg	p.W239*		NM_002191.3	NP_002182.1	P05111	INHA_HUMAN	inhibin, alpha	239					cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development	inhibin A complex|inhibin-betaglycan-ActRII complex	cytokine activity|growth factor activity|hormone activity|signal transducer activity			large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CTGATGTCCTGGCCTTGGTCT	0.657													18	45					0	0	1	0	0	A	220439863	G	A	220439863	4	1	79	1	0	0	0	0	0	1	0	0	7784	1357	47	2	722	2	INHA	2	220439863	Nonsense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	13959348	220439863	22759510	71	4092											
SAG	6295	broad.mit.edu	37	chr2	234237188	234237188	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagatgggtccccagcccCgagctgaggcggcctggcag	6	6	16	13	2	0	2	0	2	0	1	1	4	1	2	5	4	2	2	5	4	0	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:234237188C>T	ENST00000409110.1	+	8	807	c.577C>T	c.(577-579)Cga>Tga	p.R193*	SAG_ENST00000449594.2_Nonsense_Mutation_p.R59*	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	193					rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		TCCCCAGCCCCGAGCTGAGGC	0.582													15	45					0	0	1	0	0	T	234237188	C	T	234237188	4	4	79	1	0	0	0	0	0	1	0	0	13860	644	23	1	603	1	SAG	2	234237188	Nonsense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	13797325	234237188	8962185	72	4093											
DGKD	8527	broad.mit.edu	37	chr2	234371288	234371288	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatttgcctggtttcttctaGgggctcaactgcagcttcgt	5	16	10	10	1	3	0	1	0	2	0	4	0	3	0	1	3	4	4	1	3	3	6			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:234371288G>T	ENST00000264057.2	+	26	3105		c.e26-1		DGKD_ENST00000409813.3_Splice_Site	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	GTTTCTTCTAGGGGCTCAACT	0.592													8	113					1.26484e-09	1.33894e-09	1	1	0	T	234371288	G	T	234371288	5	4	79	1	0	0	0	0	0	0	1	0	4495	1014	35	4	3219	4	DGKD	2	234371288	Splice_Site	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	134100	234371288	8828085	73	4094											
KLHL30	377007	broad.mit.edu	37	chr2	239049574	239049574	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagcagcccctacttccatgCcatgtttgcgggtgacttcg	6	11	10	14	2	0	1	0	1	0	0	2	1	1	1	4	1	5	2	4	1	1	4			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:239049574C>T	ENST00000409223.1	+	2	286	c.179C>T	c.(178-180)gCc>gTc	p.A60V	KLHL30_ENST00000305959.4_Missense_Mutation_p.A42V			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	60	BTB.									lung(4)	4		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;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		TACTTCCATGCCATGTTTGCG	0.677													22	47					0	0	1	0	0	T	239049574	C	T	239049574	3	4	79	1	0	0	0	0	1	0	0	0	8427	739	26	2	181	2	KLHL30	2	239049574	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	4678286	239049574	4149799	74	4095											
ANKMY1	51281	broad.mit.edu	37	chr2	241468861	241468861	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcggaaccacagccccacGtcctggctgccatcggggta	7	7	11	16	3	1	0	0	0	1	0	4	1	2	1	5	4	3	2	5	4	2	1	rs147984796		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:241468861G>A	ENST00000391987.1	-	5	645	c.279C>T	c.(277-279)gaC>gaT	p.D93D	ANKMY1_ENST00000405523.3_Intron|ANKMY1_ENST00000272972.3_Silent_p.D93D|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000462004.1_Intron|ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000401804.1_Silent_p.D182D|ANKMY1_ENST00000405002.1_Intron			Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	93							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		ACAGCCCCACGTCCTGGCTGC	0.592													5	36					0	0	1	0	0	A	241468861	G	A	241468861	2	1	79	1	0	0	0	0	0	0	0	1	630	1136	40	1		1	ANKMY1	2	241468861	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	2419287	241468861	1730512	75	4096											
NEU4	129807	broad.mit.edu	37	chr2	242755694	242755694	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcagagcatgggggtccctCgtaccccttcacggacagtg	8	7	13	13	2	1	1	1	0	0	1	3	2	2	2	3	3	3	3	3	3	1	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr2:242755694C>T	ENST00000391969.2	+	3	724	c.13C>T	c.(13-15)Cgt>Tgt	p.R5C	NEU4_ENST00000407683.1_Missense_Mutation_p.R5C|NEU4_ENST00000405370.1_Missense_Mutation_p.R5C|NEU4_ENST00000325935.6_Missense_Mutation_p.R18C|NEU4_ENST00000404257.1_Missense_Mutation_p.R17C	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	5						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		GGGGGTCCCTCGTACCCCTTC	0.701													4	33					0	0	1	0	0	T	242755694	C	T	242755694	3	4	79	1	0	0	0	0	1	0	0	0	10391	884	31	1	58	1	NEU4	2	242755694	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	1286833	242755694	443679	76	4097											
ITPR1	3708	broad.mit.edu	37	chr3	4847908	4847908	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgttgtatctggtgatctGtgccatggggctctttgtcc	3	18	12	8	0	3	1	0	1	3	0	4	1	4	1	2	3	1	3	2	3	1	4			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:4847908G>A	ENST00000302640.8	+	54	7534	c.7184G>A	c.(7183-7185)tGt>tAt	p.C2395Y	ITPR1_ENST00000357086.4_Missense_Mutation_p.C2362Y|ITPR1_ENST00000443694.2_Missense_Mutation_p.C2395Y|ITPR1_ENST00000354582.6_Missense_Mutation_p.C2395Y|ITPR1_ENST00000423119.2_Missense_Mutation_p.C2362Y|ITPR1_ENST00000544951.1_Missense_Mutation_p.C373Y|ITPR1_ENST00000463980.1_3'UTR|ITPR1_ENST00000456211.2_Missense_Mutation_p.C2347Y	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2410					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		CTGGTGATCTGTGCCATGGGG	0.463													12	37					0	0	1	0	0	A	4847908	G	A	4847908	3	1	79	1	0	0	0	0	1	0	0	0	7964	1377	48	2	7439	2	ITPR1	3	4847908	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08		4847908	193174522	77	4098											
BRPF1	7862	broad.mit.edu	37	chr3	9776141	9776141	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggtggacttgcatggccGcgtccaccgcatcagcatct	7	8	13	13	3	2	0	1	0	1	0	3	2	3	2	3	4	2	3	3	4	0	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:9776141G>A	ENST00000383829.2	+	2	721	c.317G>A	c.(316-318)cGc>cAc	p.R106H	BRPF1_ENST00000302054.3_Missense_Mutation_p.R106H|BRPF1_ENST00000457855.1_Missense_Mutation_p.R106H|BRPF1_ENST00000433861.2_Missense_Mutation_p.R106H|BRPF1_ENST00000424362.1_Missense_Mutation_p.R106H	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	106	Interaction with MYST3 and MYST4.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					TTGCATGGCCGCGTCCACCGC	0.597													28	42					0	0	1	0	0	A	9776141	G	A	9776141	3	1	79	1	0	0	0	0	1	0	0	0	1522	1087	38	1	319	1	BRPF1	3	9776141	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	4928233	9776141	188246289	78	4099											
TADA3	10474	broad.mit.edu	37	chr3	9825746	9825746	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcttggtgcggttgtgggCactaagtgccttcagctcag	5	13	13	10	1	3	0	2	0	1	0	3	0	3	0	1	3	3	3	1	3	1	5			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:9825746C>T	ENST00000343450.2	-	8	1619	c.1072G>A	c.(1072-1074)Gcc>Acc	p.A358T	TADA3_ENST00000440161.1_Missense_Mutation_p.A358T|TADA3_ENST00000301964.2_Missense_Mutation_p.A358T	NM_133480.1	NP_597814.1	O75528	TADA3_HUMAN	transcriptional adaptor 3	358					estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						CGGTTGTGGGCACTAAGTGCC	0.627													5	20					0	0	1	0	0	T	9825746	C	T	9825746	3	4	79	1	0	0	0	0	1	0	0	0	15569	710	25	2	238	2	TADA3	3	9825746	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	49605	9825746	188196684	79	4100											
IRAK2	3656	broad.mit.edu	37	chr3	10219597	10219597	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcagggtgtgagcatcaCgcgggagctgctgtggtggt	5	9	20	7	2	1	1	1	1	0	0	1	2	1	2	0	5	4	4	0	5	0	0			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:10219597C>T	ENST00000256458.4	+	2	260	c.170C>T	c.(169-171)aCg>aTg	p.T57M		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	57	Death.				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						GTGAGCATCACGCGGGAGCTG	0.637													16	33					0	0	1	0	0	T	10219597	C	T	10219597	3	4	79	1	0	0	0	0	1	0	0	0	7867	536	19	1	176	1	IRAK2	3	10219597	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	393851	10219597	187802833	80	4101											
ATP2B2	491	broad.mit.edu	37	chr3	10392202	10392202	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagccgtgttgatattgtcGccagtgaccatgcggaccgt	7	10	13	11	5	0	2	0	2	0	0	1	4	0	3	4	1	2	1	4	1	1	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:10392202G>A	ENST00000397077.1	-	14	2636	c.2061C>T	c.(2059-2061)ggC>ggT	p.G687G	ATP2B2_ENST00000343816.4_Silent_p.G718G|ATP2B2_ENST00000352432.4_Silent_p.G732G|ATP2B2_ENST00000383800.4_Silent_p.G687G|ATP2B2_ENST00000360273.2_Silent_p.G732G			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	732					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TGATATTGTCGCCAGTGACCA	0.632													12	27					0	0	1	0	0	A	10392202	G	A	10392202	2	1	79	1	0	0	0	0	0	0	0	1	1139	1074	38	1		1	ATP2B2	3	10392202	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	172605	10392202	187630228	81	4102											
ATP2B2	491	broad.mit.edu	37	chr3	10429962	10429962	+	Splice_Site	DEL	T	T	-																															gcaaggggattaggcttaccTtttttgtctttcttctcttc																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:10429962delT	ENST00000397077.1	-	8	1481	c.907_splice	c.e8+1	p.K302_splice	ATP2B2_ENST00000352432.4_Splice_Site_p.K302_splice|ATP2B2_ENST00000343816.4_Splice_Site_p.K302_splice|ATP2B2_ENST00000383800.4_Splice_Site_p.K302_splice|ATP2B2_ENST00000360273.2_Splice_Site_p.K302_splice			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	302					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	p.A303fs*56(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TAGGCTTACCTTTTTTGTCTT	0.453													48	94	---	---	---	---						-	10429962	T	-	10429962	8	5	79	1	0	1	0	1	0	0	1	0	1139	1623	56	0	2897	0	ATP2B2	3	10429962	Splice_Site	DEL	T	TCGA-EJ-7782-01A-11D-2114-08	37760	10429962	187592468	82	4103											
C3orf20	84077	broad.mit.edu	37	chr3	14746120	14746120	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttctatgatggctcctccttCgtttagtatccttttatttg	5	21	6	9	1	1	1	0	1	1	0	5	1	4	1	3	1	0	3	3	1	4	9			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:14746120C>T	ENST00000253697.3	+	7	1607	c.1155C>T	c.(1153-1155)ttC>ttT	p.F385F	C3orf20_ENST00000412910.1_Silent_p.F263F|C3orf20_ENST00000435614.1_Silent_p.F263F|C3orf20_ENST00000495387.1_3'UTR	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	385						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						GCTCCTCCTTCGTTTAGTATC	0.463													33	99					0	0	1	0	0	T	14746120	C	T	14746120	2	4	79	1	0	0	0	0	0	0	0	1	2227	883	31	1		1	C3orf20	3	14746120	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	4316158	14746120	183276310	83	4104											
TOP2B	7155	broad.mit.edu	37	chr3	25674067	25674067	+	Frame_Shift_Del	DEL	T	T	-																															taataaaaacccatatatggTtttttacctgttgaaaacat																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:25674067delT	ENST00000435706.2	-	10	1322	c.1121delA	c.(1120-1122)acfs	p.N374fs	TOP2B_ENST00000264331.4_Frame_Shift_Del_p.N379fs			Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	379					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						CCATATATGGTTTTTTACCTG	0.299													14	21	---	---	---	---						-	25674067	T	-	25674067	7	5	79	1	0	1	0	1	0	0	0	0	16427	1725	60	0	3852	0	TOP2B	3	25674067	Frame_Shift_Del	DEL	T	TCGA-EJ-7782-01A-11D-2114-08	10927947	25674067	172348363	84	4105											
OSBPL10	114884	broad.mit.edu	37	chr3	31705656	31705656	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgcttctcctccaggtgcCgcttctgctcggtggctgcg	1	13	13	14	3	2	0	0	0	2	0	5	0	3	0	3	3	4	5	3	3	0	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:31705656C>T	ENST00000396556.2	-	11	2287	c.2165G>A	c.(2164-2166)cGg>cAg	p.R722Q	OSBPL10_ENST00000438237.2_Missense_Mutation_p.R658Q	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	722					lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		CTCCAGGTGCCGCTTCTGCTC	0.602													6	66					0	0	1	0	0	T	31705656	C	T	31705656	3	4	79	1	0	0	0	0	1	0	0	0	11322	652	23	1	137	1	OSBPL10	3	31705656	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	6031589	31705656	166316774	85	4106											
VILL	50853	broad.mit.edu	37	chr3	38038579	38038579	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctggcaggtggagctctcCtggaacagctttaataaggg	9	10	13	9	0	2	0	0	0	2	0	3	2	2	2	1	5	3	3	1	5	3	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:38038579C>A	ENST00000283713.6	+	6	728	c.462C>A	c.(460-462)tcC>tcA	p.S154S	VILL_ENST00000465644.1_Intron|VILL_ENST00000383759.2_Silent_p.S154S			O15195	VILL_HUMAN	villin-like	154					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TGGAGCTCTCCTGGAACAGCT	0.542											OREG0015474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	71					2.0095e-06	2.09219e-06	1	1	0	A	38038579	C	A	38038579	2	1	79	1	0	0	0	0	0	0	0	1	17225	668	24	4		4	VILL	3	38038579	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	6332923	38038579	159983851	86	4107											
ACAA1	30	broad.mit.edu	37	chr3	38167143	38167143	+	Frame_Shift_Del	DEL	C	C	-																															ggtgccctaaggccactgcaCcccccagggggttcaccttc																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:38167143delC	ENST00000333167.8	-	11	1284	c.1112delG	c.(1111-1113)gtfs	p.G371fs	ACAA1_ENST00000480865.1_5'UTR|ACAA1_ENST00000301810.7_Frame_Shift_Del_p.G278fs|ACAA1_ENST00000450296.1_Frame_Shift_Del_p.G330fs	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN	acetyl-CoA acyltransferase 1	371					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy	peroxisomal matrix	acetyl-CoA C-acyltransferase activity|protein binding			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		GGCCACTGCACCCCCCAGGGG	0.607													24	60	---	---	---	---						-	38167143	C	-	38167143	7	5	79	1	0	1	0	1	0	0	0	0	104	507	18	0	170	0	ACAA1	3	38167143	Frame_Shift_Del	DEL	C	TCGA-EJ-7782-01A-11D-2114-08	128564	38167143	159855287	87	4108											
MYRIP	25924	broad.mit.edu	37	chr3	40251426	40251426	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagacaccacagaggagaaaCggagaaacaggctgtacgag	17	2	13	9	2	0	4	0	0	0	4	0	7	0	4	1	3	3	2	1	3	3	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:40251426C>T	ENST00000302541.6	+	11	2089	c.1747C>T	c.(1747-1749)Cgg>Tgg	p.R583W	MYRIP_ENST00000539167.1_Missense_Mutation_p.R396W|MYRIP_ENST00000425621.1_Missense_Mutation_p.R583W|MYRIP_ENST00000396217.3_Missense_Mutation_p.R494W|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000444716.1_Missense_Mutation_p.R583W	NM_015460.2	NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	583	Actin-binding.				intracellular protein transport		actin binding|zinc ion binding	p.R583W(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		AGAGGAGAAACGGAGAAACAG	0.478													5	80					0	0	1	0	0	T	40251426	C	T	40251426	3	4	79	1	0	0	0	0	1	0	0	0	10148	527	19	1	1785	1	MYRIP	3	40251426	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	2084283	40251426	157771004	88	4109											
LARS2	23395	broad.mit.edu	37	chr3	45559536	45559536	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctgaggccaggaagctctGggagtacaagaactccgtca	12	6	13	10	1	2	2	1	1	1	1	3	4	3	4	2	3	4	3	2	3	4	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:45559536G>T	ENST00000415258.1	+	17	2327	c.2186G>T	c.(2185-2187)tGg>tTg	p.W729L	LARS2_ENST00000467936.1_3'UTR|LARS2_ENST00000414984.1_Missense_Mutation_p.W686L|LARS2_ENST00000265537.3_Missense_Mutation_p.W729L			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	729					leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	AGGAAGCTCTGGGAGTACAAG	0.517													7	22					0.00198382	0.00201165	1	1	0	T	45559536	G	T	45559536	3	4	79	1	0	0	0	0	1	0	0	0	8674	1357	47	4	2248	4	LARS2	3	45559536	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	5308110	45559536	152462894	89	4110											
COL7A1	1294	broad.mit.edu	37	chr3	48626076	48626076	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgcatgctctgcctacgCgtagtgacaacaatggagac	11	7	11	12	3	1	2	0	1	1	1	1	3	1	2	1	1	5	3	1	1	4	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:48626076C>T	ENST00000328333.8	-	19	2693	c.2587_splice	c.e19+1	p.T862_splice	COL7A1_ENST00000454817.1_Splice_Site_p.T862_splice	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	862	Fibronectin type-III 7.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCTGCCTACGCGTAGTGACAA	0.587													19	30					0	0	1	0	0	T	48626076	C	T	48626076	5	4	79	1	0	0	0	0	0	0	1	0	3727	782	27	1	6648	1	COL7A1	3	48626076	Splice_Site	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	3066540	48626076	149396354	90	4111											
GMPPB	29925	broad.mit.edu	37	chr3	49759676	49759676	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctcaccaccagcacgttGcccacaatgccagggcctga	9	5	10	17	1	1	1	1	1	0	0	1	1	1	1	6	2	3	2	6	2	1	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:49759676G>A	ENST00000480687.1	-	8	872	c.756C>T	c.(754-756)ggC>ggT	p.G252G	GMPPB_ENST00000308388.6_Silent_p.G252G|GMPPB_ENST00000308375.6_Silent_p.G252G|AMIGO3_ENST00000535833.1_5'UTR			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B	252					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCAGCACGTTGCCCACAATGC	0.602													6	46					0	0	1	0	0	A	49759676	G	A	49759676	2	1	79	1	0	0	0	0	0	0	0	1	6537	1306	46	2		2	GMPPB	3	49759676	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	1133600	49759676	148262754	91	4112											
SEMA3B	7869	broad.mit.edu	37	chr3	50312859	50312859	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcgcctgggacggggtcGcgtgcacgcgcttccagccc	4	6	15	16	6	0	0	0	0	0	0	2	1	1	1	3	3	3	2	3	3	0	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:50312859G>A	ENST00000418948.1	+	0	1852							Q13214	SEM3B_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B						axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity			central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GGACGGGGTCGCGTGCACGCG	0.716													5	12					0	0	1	0	0	A	50312859	G	A	50312859	1	1	79	0	1	0	0	0	0	0	0	0	14079	1087	38	1		1	SEMA3B	3	50312859	RNA	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	553183	50312859	147709571	92	4113											
NAT6	24142	broad.mit.edu	37	chr3	50334626	50334626	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggcccagggagtgcaggCgggaggtgcggctgcggggc	5	4	22	10	3	0	0	0	0	0	0	0	2	0	2	1	8	3	2	1	8	0	0			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:50334626C>T	ENST00000443842.1	-	2	1076	c.269G>A	c.(268-270)cGc>cAc	p.R90H	HYAL3_ENST00000336307.1_Intron|HYAL3_ENST00000359051.3_Intron|NAT6_ENST00000354862.4_Missense_Mutation_p.R112H|HYAL3_ENST00000415204.1_Intron|NAT6_ENST00000417393.1_Missense_Mutation_p.R90H|HYAL3_ENST00000513170.1_Intron|HYAL3_ENST00000450982.1_Intron|NAT6_ENST00000443094.2_Missense_Mutation_p.R90H					N-acetyltransferase 6 (GCN5-related)											endometrium(3)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GGAGTGCAGGCGGGAGGTGCG	0.647													4	44					0	0	1	0	0	T	50334626	C	T	50334626	3	4	79	1	0	0	0	0	1	0	0	0	10226	768	27	1	595	1	NAT6	3	50334626	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	21767	50334626	147687804	93	4114											
NISCH	11188	broad.mit.edu	37	chr3	52526219	52526219	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggctggacgatggccgccgCgtccgggacctggaccgagt	5	5	17	14	7	0	0	0	0	0	0	1	5	1	3	5	5	0	1	5	5	0	0			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:52526219C>T	ENST00000345716.4	+	21	4370	c.4236C>T	c.(4234-4236)cgC>cgT	p.R1412R	NISCH_ENST00000479054.1_Silent_p.R1412R	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN	nischarin	1412					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		ATGGCCGCCGCGTCCGGGACC	0.627													18	62					0	0	1	0	0	T	52526219	C	T	52526219	2	4	79	1	0	0	0	0	0	0	0	1	10479	755	27	1		1	NISCH	3	52526219	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	2191593	52526219	145496211	94	4115											
CACNA2D3	55799	broad.mit.edu	37	chr3	54930848	54930848	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctctggtaccgaagagcCgctgagcagattccagggag	9	7	13	12	2	1	3	0	1	1	2	3	5	2	4	4	2	3	3	4	2	2	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:54930848C>T	ENST00000474759.1	+	26	2367	c.2319C>T	c.(2317-2319)gcC>gcT	p.A773A	CACNA2D3_ENST00000415676.2_Silent_p.A773A|CACNA2D3_ENST00000490478.1_Silent_p.A679A|CACNA2D3-AS1_ENST00000471265.1_RNA|CACNA2D3_ENST00000288197.5_Silent_p.A773A	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	773						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		ACCGAAGAGCCGCTGAGCAGA	0.532													22	37					0	0	1	0	0	T	54930848	C	T	54930848	2	4	79	1	0	0	0	0	0	0	0	1	2568	639	23	1		1	CACNA2D3	3	54930848	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	2404629	54930848	143091582	95	4116											
CADPS	8618	broad.mit.edu	37	chr3	62499360	62499360	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagcagaagacaggatgcTcatacatttctctctttttc	11	13	6	11	0	3	2	1	0	2	2	5	3	3	3	1	1	3	2	1	1	3	4			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:62499360T>C	ENST00000283269.9	-	17	2814	c.2603A>G	c.(2602-2604)gAg>gGg	p.E868G	CADPS_ENST00000357948.3_Intron|CADPS_ENST00000383710.4_Intron	NM_183394.2	NP_899631.1	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	865	Interaction with DRD2.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GACAGGATGCTCATACATTTC	0.433													4	7					0	0	1	0	0	C	62499360	T	C	62499360	3	2	79	1	0	0	0	0	1	0	0	0	2588	1551	54	3	1587	3	CADPS	3	62499360	Missense_Mutation	SNP	T	TCGA-EJ-7782-01A-11D-2114-08	7568512	62499360	135523070	96	4117											
PDZRN3	23024	broad.mit.edu	37	chr3	73433999	73433999	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacgggtgctctcgtcggtcCgccccacaccgctgtccttc	3	10	10	18	5	1	0	0	0	1	0	6	0	3	0	5	2	2	2	5	2	1	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:73433999C>T	ENST00000263666.4	-	10	1832	c.1718G>A	c.(1717-1719)cGg>cAg	p.R573Q	PDZRN3_ENST00000462146.2_Missense_Mutation_p.R230Q|PDZRN3_ENST00000479530.1_Missense_Mutation_p.R290Q|PDZRN3_ENST00000466780.1_Missense_Mutation_p.R230Q|PDZRN3_ENST00000535920.1_Missense_Mutation_p.R295Q	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	573							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CTCGTCGGTCCGCCCCACACC	0.597													12	19					0	0	1	0	0	T	73433999	C	T	73433999	3	4	79	1	0	0	0	0	1	0	0	0	11756	652	23	1	1486	1	PDZRN3	3	73433999	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	10934639	73433999	124588431	97	4118											
SENP7	57337	broad.mit.edu	37	chr3	101060605	101060605	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaaggtgtaagtaggcttggCcgcatctgtgtttgagggct	7	12	16	6	1	1	1	0	1	1	0	1	2	1	1	1	4	0	6	1	4	3	4	rs151073689	by1000genomes	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:101060605C>T	ENST00000394095.2	-	15	2178	c.2125G>A	c.(2125-2127)Gcc>Acc	p.A709T	SENP7_ENST00000394091.1_Missense_Mutation_p.A545T|SENP7_ENST00000348610.3_Missense_Mutation_p.A676T|SENP7_ENST00000394094.2_Missense_Mutation_p.A644T|SENP7_ENST00000358203.3_Missense_Mutation_p.A545T|SENP7_ENST00000314261.7_Missense_Mutation_p.A643T	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	709					proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GTAGGCTTGGCCGCATCTGTG	0.443													7	38					0	0	1	0	0	T	101060605	C	T	101060605	3	4	79	1	0	0	0	0	1	0	0	0	14105	739	26	2	1067	2	SENP7	3	101060605	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	27626606	101060605	96961825	98	4119											
ALCAM	214	broad.mit.edu	37	chr3	105260577	105260577	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttccctgatagacaaaaaaaGcatgattgcttcaacagcta	16	10	6	9	0	1	3	1	2	0	1	2	3	2	3	1	0	4	3	1	0	6	5			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:105260577G>A	ENST00000306107.5	+	8	1459	c.959G>A	c.(958-960)aGc>aAc	p.S320N	ALCAM_ENST00000481337.1_3'UTR|ALCAM_ENST00000486979.2_Missense_Mutation_p.S269N|ALCAM_ENST00000389927.4_Intron|ALCAM_ENST00000472644.2_Missense_Mutation_p.S320N	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	320	Ig-like C2-type 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						GACAAAAAAAGCATGATTGCT	0.428													9	74					0	0	1	0	0	A	105260577	G	A	105260577	3	1	79	1	0	0	0	0	1	0	0	0	484	971	34	2	989	2	ALCAM	3	105260577	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	4199972	105260577	92761853	99	4120											
DZIP3	9666	broad.mit.edu	37	chr3	108363248	108363248	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcctaacaaggagttacCgcaatccaaacagtttgact	13	10	6	12	1	0	1	0	1	0	0	3	2	3	2	4	1	3	3	4	1	5	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:108363248C>T	ENST00000361582.3	+	14	1609	c.1379C>T	c.(1378-1380)cCg>cTg	p.P460L	DZIP3_ENST00000463306.1_Missense_Mutation_p.P460L	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	460					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						AAGGAGTTACCGCAATCCAAA	0.418													31	129					0	0	1	0	0	T	108363248	C	T	108363248	3	4	79	1	0	0	0	0	1	0	0	0	4891	652	23	1	1429	1	DZIP3	3	108363248	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	3102671	108363248	89659182	100	4121											
GOLGB1	2804	broad.mit.edu	37	chr3	121437312	121437312	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acggcccaccaaggattcttCgtgttcctcaagcttccttt	7	13	7	14	2	2	0	1	0	1	0	5	1	4	1	4	2	1	2	4	2	2	5			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:121437312C>T	ENST00000393667.3	-	8	918	c.808G>A	c.(808-810)Gaa>Aaa	p.E270K	GOLGB1_ENST00000340645.5_Missense_Mutation_p.E265K	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	265					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		AAGGATTCTTCGTGTTCCTCA	0.433													5	59					0	0	1	0	0	T	121437312	C	T	121437312	3	4	79	1	0	0	0	0	1	0	0	0	6604	893	31	1	9046	1	GOLGB1	3	121437312	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	13074064	121437312	76585118	101	4122											
ROPN1	54763	broad.mit.edu	37	chr3	123699209	123699209	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaaggcgagaaaggagcacGtactcggctgcccactggat	11	6	14	10	3	0	2	0	1	0	1	1	5	0	4	1	4	3	3	1	4	3	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:123699209G>A	ENST00000479867.1	-	2	368	c.120C>T	c.(118-120)taC>taT	p.Y40Y	ROPN1_ENST00000184183.4_Intron|ROPN1_ENST00000495093.1_Silent_p.Y40Y|ROPN1_ENST00000484329.1_Silent_p.Y40Y|ROPN1_ENST00000405845.3_Intron|ROPN1_ENST00000459660.1_Silent_p.Y40Y			Q9HAT0	ROP1A_HUMAN	rhophilin associated tail protein 1	40	RIIa.				signal transduction		cAMP-dependent protein kinase regulator activity			lung(2)|ovary(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.148)		AAAGGAGCACGTACTCGGCTG	0.607													22	38					0	0	1	0	0	A	123699209	G	A	123699209	2	1	79	1	0	0	0	0	0	0	0	1	13575	1160	40	1		1	ROPN1	3	123699209	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	2261897	123699209	74323221	102	4123											
SNX4	8723	broad.mit.edu	37	chr3	125170172	125170172	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgcacatactgatctgcaTgactgcatagcttatgaggg	10	13	10	8	0	1	3	0	3	1	0	1	3	1	3	0	1	5	4	0	1	3	4			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:125170172T>C	ENST00000251775.4	-	13	1306	c.1282A>G	c.(1282-1284)Atg>Gtg	p.M428V	SNX4_ENST00000536067.1_Missense_Mutation_p.M283V	NM_003794.2	NP_003785.1	O95219	SNX4_HUMAN	sorting nexin 4	428					cell communication|endocytic recycling|endocytosis|protein transport	cytoplasmic dynein complex|early endosome membrane	phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1)	11						CTGATCTGCATGACTGCATAG	0.363													19	138					0	0	1	0	0	C	125170172	T	C	125170172	3	2	79	1	0	0	0	0	1	0	0	0	14958	1464	51	3	78	3	SNX4	3	125170172	Missense_Mutation	SNP	T	TCGA-EJ-7782-01A-11D-2114-08	1470963	125170172	72852258	103	4124											
GP9	2815	broad.mit.edu	37	chr3	128780917	128780917	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgaggccctgctgcaggtccGctgtgccagccccagcctcg	4	6	13	18	3	0	0	0	0	0	0	2	1	1	0	6	2	5	3	6	2	0	0			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:128780917G>A	ENST00000307395.4	+	3	557	c.335G>A	c.(334-336)cGc>cAc	p.R112H		NM_000174.3	NP_000165.1	P14770	GPIX_HUMAN	glycoprotein IX (platelet)	112	LRRCT.				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane	protein binding			NS(1)|central_nervous_system(1)|lung(4)	6					Quinine(DB00468)	CTGCAGGTCCGCTGTGCCAGC	0.706													3	13					0	0	1	0	0	A	128780917	G	A	128780917	3	1	79	1	0	0	0	0	1	0	0	0	6625	1087	38	1	337	1	GP9	3	128780917	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	3610745	128780917	69241513	104	4125											
COL6A6	131873	broad.mit.edu	37	chr3	130286065	130286065	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactttgatgcattgaaagAcataagaaaccaagttgttc	15	12	8	6	0	0	5	0	3	0	2	1	5	0	5	1	0	2	3	1	0	4	5			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:130286065A>T	ENST00000358511.6	+	4	1833	c.1802A>T	c.(1801-1803)gAc>gTc	p.D601V	COL6A6_ENST00000453409.2_Missense_Mutation_p.D601V	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	601	Nonhelical region.|VWFA 3.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GCATTGAAAGACATAAGAAAC	0.418													12	36					0	0	1	0	0	T	130286065	A	T	130286065	3	4	79	1	0	0	0	0	1	0	0	0	3726	275	10	5	1816	5	COL6A6	3	130286065	Missense_Mutation	SNP	A	TCGA-EJ-7782-01A-11D-2114-08	1505148	130286065	67736365	105	4126											
CP	1356	broad.mit.edu	37	chr3	148924002	148924002	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgaagatgtctataccagaGggagcatagttccagatgat	13	10	12	6	0	1	5	0	2	1	3	2	6	2	6	2	1	2	2	2	1	4	4			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:148924002G>T	ENST00000264613.6	-	6	1423	c.1161C>A	c.(1159-1161)ccC>ccA	p.P387P		NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	387	F5/8 type A 2.|Plastocyanin-like 3.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	p.P387P(1)		breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	CTATACCAGAGGGAGCATAGT	0.403													27	67					3.28513e-13	3.52177e-13	1	1	0	T	148924002	G	T	148924002	2	4	79	1	0	0	0	0	0	0	0	1	3810	987	35	4		4	CP	3	148924002	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	18637937	148924002	49098428	106	4127											
PFN2	5217	broad.mit.edu	37	chr3	149684332	149684332	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatgccttcttattcaatcCgcctccatggaccccttctt	6	15	5	15	1	3	0	1	0	2	0	5	1	5	1	6	1	1	1	6	1	3	6			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:149684332C>T	ENST00000239940.7	-	3	619	c.367G>A	c.(367-369)Gga>Aga	p.G123R	PFN2_ENST00000452853.2_Intron|PFN2_ENST00000423691.2_Intron|PFN2_ENST00000498307.1_Missense_Mutation_p.G74R|PFN2_ENST00000497148.1_Missense_Mutation_p.G74R|PFN2_ENST00000494827.1_Intron|PFN2_ENST00000490975.1_Missense_Mutation_p.G108R|PFN2_ENST00000489155.1_Missense_Mutation_p.G74R|PFN2_ENST00000481275.1_Missense_Mutation_p.G74R|PFN2_ENST00000475518.1_Missense_Mutation_p.G74R|PFN2_ENST00000481767.1_Intron			P35080	PROF2_HUMAN	profilin 2	123					actin cytoskeleton organization|regulation of actin polymerization or depolymerization	actin cytoskeleton|cytoplasm	actin binding|phosphatidylinositol-4,5-bisphosphate binding	p.G123R(1)		large_intestine(1)|lung(4)|ovary(1)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TTATTCAATCCGCCTCCATGG	0.388													30	377					0	0	1	0	0	T	149684332	C	T	149684332	3	4	79	1	0	0	0	0	1	0	0	0	11816	661	23	1	161	1	PFN2	3	149684332	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	760330	149684332	48338098	107	4128											
TIPARP	25976	broad.mit.edu	37	chr3	156411927	156411927	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaactctatttaccacacaGtctggaaattcttctgtagg	11	14	6	10	0	5	0	1	0	4	0	5	1	5	1	1	2	2	1	1	2	5	6			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:156411927G>A	ENST00000461166.1	+	3	1624	c.1036G>A	c.(1036-1038)Gtc>Atc	p.V346I	TIPARP_ENST00000295924.7_Missense_Mutation_p.V346I|TIPARP_ENST00000542783.1_Missense_Mutation_p.V346I|TIPARP_ENST00000486483.1_Missense_Mutation_p.V346I	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	346	WWE.						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TTACCACACAGTCTGGAAATT	0.383													24	46					0	0	1	0	0	A	156411927	G	A	156411927	3	1	79	1	0	0	0	0	1	0	0	0	15984	1029	36	2	1042	2	TIPARP	3	156411927	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	6727595	156411927	41610503	108	4129											
IL12A	3592	broad.mit.edu	37	chr3	159711354	159711354	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgattattttttcctctaGaatgggagttgcctggcctc	6	17	9	9	0	2	2	0	1	2	1	4	3	3	3	3	2	1	1	3	2	3	6			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:159711354G>A	ENST00000305579.2	+	5	727		c.e5-1		IL12A_ENST00000480787.1_Splice_Site|IL12A_ENST00000466512.1_Splice_Site|CTD-2049J23.2_ENST00000497452.1_RNA	NM_000882.3	NP_000873.2	P29459	IL12A_HUMAN	interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35)						cell cycle arrest|cell migration|defense response to Gram-positive bacterium|immune response|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of cell adhesion|positive regulation of interferon-gamma production|positive regulation of natural killer cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of NK T cell activation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of tyrosine phosphorylation of Stat4 protein|response to lipopolysaccharide|response to UV-B|response to virus	interleukin-12 complex	cytokine activity|growth factor activity|interleukin-12 receptor binding|interleukin-27 binding|protein heterodimerization activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	9			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TTTTCCTCTAGAATGGGAGTT	0.388													8	84					0	0	1	0	0	A	159711354	G	A	159711354	5	1	79	1	0	0	0	0	0	0	1	0	7668	956	33	2	438	2	IL12A	3	159711354	Splice_Site	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	3299427	159711354	38311076	109	4130											
NAALADL2	254827	broad.mit.edu	37	chr3	175520891	175520891	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcatcaaatgagacccttcAagaagccctgtcagaggtgt	12	9	10	10	0	3	3	3	1	0	3	3	4	3	3	2	1	2	1	2	1	3	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:175520891A>G	ENST00000454872.1	+	14	2416	c.2288A>G	c.(2287-2289)cAa>cGa	p.Q763R		NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	763					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		GAGACCCTTCAAGAAGCCCTG	0.433													5	36					0	0	1	0	0	G	175520891	A	G	175520891	3	3	79	1	0	0	0	0	1	0	0	0	10178	130	5	3	2342	3	NAALADL2	3	175520891	Missense_Mutation	SNP	A	TCGA-EJ-7782-01A-11D-2114-08	15809537	175520891	22501539	110	4131											
PIK3CA	5290	broad.mit.edu	37	chr3	178952026	178952026	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacattcgaaagaccctagcCttagataaaactgagcaaga	17	8	7	9	1	0	4	0	1	0	3	1	5	0	4	2	0	4	1	2	0	7	5			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:178952026C>A	ENST00000263967.3	+	21	3238	c.3081C>A	c.(3079-3081)gcC>gcA	p.A1027A		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1027	PI3K/PI4K.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.A1027V(2)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AGACCCTAGCCTTAGATAAAA	0.388		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			14	75					0.000151284	0.000154959	1	1	0	A	178952026	C	A	178952026	2	1	79	1	0	0	0	0	0	0	0	1	11961	668	24	4		4	PIK3CA	3	178952026	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	3431135	178952026	19070404	111	4132											
ABCC5	10057	broad.mit.edu	37	chr3	183667646	183667646	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcgtgatattgtccagaCgcttcagctcccgaatcagg	9	10	10	12	3	2	2	2	1	0	1	4	3	4	2	2	1	2	2	2	1	2	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:183667646C>T	ENST00000334444.6	-	22	3362	c.3122G>A	c.(3121-3123)cGt>cAt	p.R1041H	ABCC5_ENST00000265586.6_Intron	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1041	ABC transmembrane type-1 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			ATTGTCCAGACGCTTCAGCTC	0.562													6	74					0	0	1	0	0	T	183667646	C	T	183667646	3	4	79	1	0	0	0	0	1	0	0	0	56	536	19	1	1227	1	ABCC5	3	183667646	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	4715620	183667646	14354784	112	4133											
C3orf70	285382	broad.mit.edu	37	chr3	184801249	184801249	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcaaaaagtgttcggtgagcGagactgagatctgaatggtg	12	10	14	5	2	2	4	1	3	1	2	3	6	2	4	0	2	1	1	0	2	3	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:184801249G>A	ENST00000335012.2	-	2	489	c.299C>T	c.(298-300)tCg>tTg	p.S100L		NM_001025266.1	NP_001020437.1	A6NLC5	CC070_HUMAN	chromosome 3 open reading frame 70	100										breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1)	13						TTCGGTGAGCGAGACTGAGAT	0.483													7	83					0	0	1	0	0	A	184801249	G	A	184801249	3	1	79	1	0	0	0	0	1	0	0	0	2256	1059	37	1	457	1	C3orf70	3	184801249	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	1133603	184801249	13221181	113	4134											
MASP1	5648	broad.mit.edu	37	chr3	186947661	186947661	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agatcctggccatcagcttcCgggagaacttggggagccca	9	7	13	12	1	1	2	1	0	0	2	3	4	3	3	4	4	3	1	4	4	1	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:186947661C>T	ENST00000337774.5	-	11	1717	c.1328G>A	c.(1327-1329)cGg>cAg	p.R443Q		NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	443					complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CATCAGCTTCCGGGAGAACTT	0.607													9	21					0	0	1	0	0	T	186947661	C	T	186947661	3	4	79	1	0	0	0	0	1	0	0	0	9372	652	23	1	795	1	MASP1	3	186947661	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	2146412	186947661	11074769	114	4135											
LPP	4026	broad.mit.edu	37	chr3	188327517	188327519	+	In_Frame_Del	DEL	CTC	CTC	-																															gaaacgggaaccagggtacaCtcctcctggagcagggaacc																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:188327517_188327519delCTC	ENST00000312675.4	+	6	1244_1246	c.998_1000delCTC	c.(997-1002)act>a	p.TP333del	LPP_ENST00000471917.1_3'UTR|LPP_ENST00000543006.1_In_Frame_Del_p.TP333del|LPP_ENST00000448637.1_In_Frame_Del_p.TP333del	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	333	Pro-rich.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		CCAGGGTACACTCCTCCTGGAGC	0.552			T	"HMGA2, MLL, C12orf9"	"lipoma, leukemia"								17	66	---	---	---	---						-	188327519	CTC	-	188327517	7	5	79	1	0	1	0	1	0	0	0	0	8968	565	20	0	1012	0	LPP	3	188327517	In_Frame_Del	DEL	CTC	TCGA-EJ-7782-01A-11D-2114-08	1379856	188327517	9694913	115	4136											
GP5	2814	broad.mit.edu	37	chr3	194117340	194117341	+	Frame_Shift_Del	DEL	CT	CT	-																															cccattggtttacccaagggCtctctctctgattaattttc																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr3:194117340_194117341delCT	ENST00000401815.1	-	1	1742_1743	c.1671_1672delAG	c.(1669-1674)agccfs	p.RA557fs	GP5_ENST00000323007.3_Frame_Shift_Del_p.RA557fs			P40197	GPV_HUMAN	glycoprotein V (platelet)	557					blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		TACCCAAGGGCTCTCTCTCTGA	0.446													7	198	---	---	---	---						-	194117341	CT	-	194117340	7	5	79	1	0	1	0	1	0	0	0	0	6623	797	28	0	14	0	GP5	3	194117340	Frame_Shift_Del	DEL	CT	TCGA-EJ-7782-01A-11D-2114-08	5789823	194117340	3905090	116	4137											
TMEM128	85013	broad.mit.edu	37	chr4	4239662	4239662	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccataaagcaatgttgaaGctgaaaagaacaagacataa	20	7	8	6	0	0	4	0	2	0	2	0	4	0	4	1	0	4	3	1	0	9	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:4239662G>A	ENST00000254742.2	-	4	913	c.326_splice	c.e4-1	p.C109_splice	TMEM128_ENST00000538516.1_Intron|TMEM128_ENST00000382753.4_Splice_Site_p.C133_splice|TMEM128_ENST00000540397.1_Splice_Site_p.C133_splice	NM_032927.2	NP_116316.1	Q5BJH2	TM128_HUMAN	transmembrane protein 128	133						integral to membrane				endometrium(1)|kidney(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.166)		CAATGTTGAAGCTGAAAAGAA	0.343													8	33					0	0	1	0	0	A	4239662	G	A	4239662	5	1	79	1	0	0	0	0	0	0	1	0	16101	985	34	2	102	2	TMEM128	4	4239662	Splice_Site	SNP	G	TCGA-EJ-7782-01A-11D-2114-08		4239662	186914614	117	4138											
MAN2B2	23324	broad.mit.edu	37	chr4	6610853	6610853	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacagagtaaccgaacggtgCgcgtgacccaggaattcctg	11	6	13	11	4	0	2	0	1	0	1	1	5	1	3	3	2	3	1	3	2	3	2	rs151180999		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:6610853C>T	ENST00000285599.3	+	12	1870	c.1834C>T	c.(1834-1836)Cgc>Tgc	p.R612C	MAN2B2_ENST00000504960.1_3'UTR|MAN2B2_ENST00000504248.1_Missense_Mutation_p.R561C	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	612					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						CCGAACGGTGCGCGTGACCCA	0.572													8	17					0	0	1	0	0	T	6610853	C	T	6610853	3	4	79	1	0	0	0	0	1	0	0	0	9267	768	27	1	1880	1	MAN2B2	4	6610853	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	2371191	6610853	184543423	118	4139											
S100P	6286	broad.mit.edu	37	chr4	6695686	6695686	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaactagagacagccatgggCatgatcatagacgtcttttc	12	10	10	9	1	2	3	1	1	1	2	3	5	2	3	1	1	2	1	1	1	3	4			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:6695686C>T	ENST00000296370.3	+	1	891	c.27C>T	c.(25-27)ggC>ggT	p.G9G	S100P_ENST00000513778.1_Intron	NM_005980.2	NP_005971.1	P25815	S100P_HUMAN	S100 calcium binding protein P	9					endothelial cell migration	cytoplasm|nucleus	calcium ion binding|calcium-dependent protein binding|magnesium ion binding			prostate(1)	1		Myeloproliferative disorder(84;0.0255)		Colorectal(103;0.011)	Cromoglicate(DB01003)	CAGCCATGGGCATGATCATAG	0.587													15	32					0	0	1	0	0	T	6695686	C	T	6695686	2	4	79	1	0	0	0	0	0	0	0	1	13842	697	25	2		2	S100P	4	6695686	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	84833	6695686	184458590	119	4140											
AFAP1	60312	broad.mit.edu	37	chr4	7788025	7788025	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggttagcagatataacacGcctgttcatgaaactgaaag	14	10	10	7	1	1	3	1	2	0	1	1	3	1	3	1	1	3	3	1	1	5	4	rs115544900	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:7788025G>A	ENST00000420658.1	-	12	1698	c.1426C>T	c.(1426-1428)Cgt>Tgt	p.R476C	AFAP1_ENST00000358461.2_Missense_Mutation_p.R476C|AFAP1_ENST00000382543.3_Missense_Mutation_p.R476C|AFAP1_ENST00000360265.4_Missense_Mutation_p.R476C|AFAP1_ENST00000513842.1_5'UTR	NM_001134647.1	NP_001128119.1	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	476						actin cytoskeleton|cytoplasm|focal adhesion	actin binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						GATATAACACGCCTGTTCATG	0.468													6	95					0	0	1	0	0	A	7788025	G	A	7788025	3	1	79	1	0	0	0	0	1	0	0	0	352	1087	38	1	1046	1	AFAP1	4	7788025	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	1092339	7788025	183366251	120	4141											
LGI2	55203	broad.mit.edu	37	chr4	25005192	25005192	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatgaacgaggcgcctgcaCgtaaatctccttaaactttt	12	11	8	10	3	1	1	0	1	1	0	2	3	1	1	2	1	3	2	2	1	6	4			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:25005192C>T	ENST00000382114.4	-	8	1704	c.1519G>A	c.(1519-1521)Gtg>Atg	p.V507M		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	507						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				GGCGCCTGCACGTAAATCTCC	0.408													11	57					0	0	1	0	0	T	25005192	C	T	25005192	3	4	79	1	0	0	0	0	1	0	0	0	8792	536	19	1	122	1	LGI2	4	25005192	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	17217167	25005192	166149084	121	4142											
RFC1	5981	broad.mit.edu	37	chr4	39301676	39301676	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actccagttttgcttactccGgatctggctgtccactaggt	6	14	9	12	1	1	0	0	0	1	0	4	1	4	1	3	3	2	3	3	3	2	4			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:39301676G>A	ENST00000381897.1	-	21	2909	c.2776C>T	c.(2776-2778)Cgg>Tgg	p.R926W	RFC1_ENST00000349703.2_Missense_Mutation_p.R925W	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	926					DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TGCTTACTCCGGATCTGGCTG	0.493													5	41					0	0	1	0	0	A	39301676	G	A	39301676	3	1	79	1	0	0	0	0	1	0	0	0	13296	1115	39	1	690	1	RFC1	4	39301676	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	14296484	39301676	151852600	122	4143											
KCTD8	386617	broad.mit.edu	37	chr4	44450453	44450453	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggccccggggcggcggcggCcgacgcgccgggcgagctgg	2	1	23	15	9	0	0	0	0	0	0	0	2	0	0	4	8	1	1	4	8	0	0			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:44450453C>T	ENST00000360029.3	-	1	371	c.88G>A	c.(88-90)Gcc>Acc	p.A30T		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	30						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						gcggcggcggccgacgcgccg	0.687										HNSCC(17;0.042)			4	4					0	0	1	0	0	T	44450453	C	T	44450453	3	4	79	1	0	0	0	0	1	0	0	0	8159	739	26	2	1341	2	KCTD8	4	44450453	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	5148777	44450453	146703823	123	4144											
SPATA18	132671	broad.mit.edu	37	chr4	52960705	52960705	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttttccagatgtctcgaagtCggagtccttctccaataaga	10	13	8	10	2	2	2	0	0	2	2	7	4	4	3	3	1	0	0	3	1	3	4			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:52960705C>T	ENST00000295213.4	+	12	1950	c.1576C>T	c.(1576-1578)Cgg>Tgg	p.R526W	SPATA18_ENST00000419395.2_Missense_Mutation_p.R494W	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	526					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			GTCTCGAAGTCGGAGTCCTTC	0.348													4	38					0	0	1	0	0	T	52960705	C	T	52960705	3	4	79	1	0	0	0	0	1	0	0	0	15059	875	31	1	1622	1	SPATA18	4	52960705	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	8510252	52960705	138193571	124	4145											
POLR2B	5431	broad.mit.edu	37	chr4	57876617	57876617	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acggcaagctagcaaaaccaAgacagttgcataatacgttg	16	7	9	9	2	0	1	0	0	0	1	0	1	0	1	1	1	5	6	1	1	7	5			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:57876617A>C	ENST00000381227.1	+	12	1908	c.1495A>C	c.(1495-1497)Aga>Cga	p.R499R	POLR2B_ENST00000441246.2_Silent_p.R492R|POLR2B_ENST00000431623.2_Silent_p.R424R|POLR2B_ENST00000510355.1_3'UTR|POLR2B_ENST00000314595.5_Silent_p.R499R			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	499					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					AGCAAAACCAAGACAGTTGCA	0.428													32	58					0	0	1	0	0	C	57876617	A	C	57876617	2	2	79	1	0	0	0	0	0	0	0	1	12263	64	3	5		5	POLR2B	4	57876617	Silent	SNP	A	TCGA-EJ-7782-01A-11D-2114-08	4915912	57876617	133277659	125	4146											
TMPRSS11B	132724	broad.mit.edu	37	chr4	69101871	69101871	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taaaaatctctgatttacctTagtctcaatatctttgctta	12	18	3	8	0	3	1	1	1	3	0	5	1	3	1	1	0	2	1	1	0	8	7			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:69101871T>C	ENST00000332644.5	-	3	399	c.238A>G	c.(238-240)Aag>Gag	p.K80E		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	80	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						TGATTTACCTTAGTCTCAATA	0.284													11	20					0	0	1	0	0	C	69101871	T	C	69101871	3	2	79	1	0	0	0	0	1	0	0	0	16300	1763	61	3	1044	3	TMPRSS11B	4	69101871	Missense_Mutation	SNP	T	TCGA-EJ-7782-01A-11D-2114-08	11225254	69101871	122052405	126	4147											
FGF5	2250	broad.mit.edu	37	chr4	81207548	81207548	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctataatacctatgcctcaGcaatacatagaactgaaaaa	18	9	5	9	0	1	2	1	1	0	1	1	2	1	2	2	0	5	2	2	0	10	6			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:81207548G>T	ENST00000312465.7	+	3	755	c.529G>T	c.(529-531)Gca>Tca	p.A177S	FGF5_ENST00000456523.3_3'UTR|FGF5_ENST00000503413.1_3'UTR	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	177					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						CTATGCCTCAGCAATACATAG	0.453													6	91					0.00198382	0.00201165	1	1	0	T	81207548	G	T	81207548	3	4	79	1	0	0	0	0	1	0	0	0	5888	971	34	4	539	4	FGF5	4	81207548	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	12105677	81207548	109946728	127	4148											
GPRIN3	285513	broad.mit.edu	37	chr4	90169157	90169157	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcgattcccagggactctGcgtccaaggatgcaccatac	9	8	10	14	3	1	0	0	0	1	0	4	3	3	2	3	2	3	1	3	2	2	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:90169157G>C	ENST00000333209.3	-	2	2623	c.2105C>G	c.(2104-2106)gCa>gGa	p.A702G		NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	702										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		CAGGGACTCTGCGTCCAAGGA	0.502													6	35					0	0	1	0	0	C	90169157	G	C	90169157	3	2	79	1	0	0	0	0	1	0	0	0	6772	1319	46	4	229	4	GPRIN3	4	90169157	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	8961609	90169157	100985119	128	4149											
CENPE	1062	broad.mit.edu	37	chr4	104068648	104068648	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttcttgaaatttttcattCaacctgagcctttccatttc	8	19	3	11	0	3	2	2	2	1	0	5	2	4	2	3	0	2	0	3	0	2	7			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:104068648C>T	ENST00000265148.3	-	29	4088	c.3999G>A	c.(3997-3999)ttG>ttA	p.L1333L	CENPE_ENST00000380026.3_Silent_p.L1308L	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1333					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		ATTTTTCATTCAACCTGAGCC	0.373													25	20					0	0	1	0	0	T	104068648	C	T	104068648	2	4	79	1	0	0	0	0	0	0	0	1	3252	825	29	2		2	CENPE	4	104068648	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	13899491	104068648	87085628	129	4150											
NPNT	255743	broad.mit.edu	37	chr4	106858224	106858224	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacaggtgcatgaacacttaCggcagctacaagtgctactg	12	8	10	11	1	0	1	0	1	0	0	0	1	0	1	0	2	7	4	0	2	5	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:106858224C>T	ENST00000379987.2	+	4	540	c.324C>T	c.(322-324)taC>taT	p.Y108Y	NPNT_ENST00000513430.1_3'UTR|NPNT_ENST00000514622.1_Silent_p.Y108Y|NPNT_ENST00000305572.8_Silent_p.Y108Y|NPNT_ENST00000427316.2_Silent_p.Y138Y|NPNT_ENST00000506666.1_Silent_p.Y138Y|NPNT_ENST00000453617.2_Silent_p.Y125Y	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	108	EGF-like 2; calcium-binding (Potential).				cell differentiation	membrane	calcium ion binding			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		TGAACACTTACGGCAGCTACA	0.448													18	16					0	0	1	0	0	T	106858224	C	T	106858224	2	4	79	1	0	0	0	0	0	0	0	1	10638	547	19	1		1	NPNT	4	106858224	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	2789576	106858224	84296052	130	4151											
CCDC109B	55013	broad.mit.edu	37	chr4	110608693	110608693	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaagaatccctgaaacaggCgcgtcattctctctgtttgc	10	12	8	11	2	3	2	1	1	2	1	5	2	4	2	1	1	2	1	1	1	4	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:110608693C>T	ENST00000394650.4	+	8	1089	c.956C>T	c.(955-957)gCg>gTg	p.A319V		NM_017918.4	NP_060388.2	Q9NWR8	C109B_HUMAN	coiled-coil domain containing 109B	319						integral to membrane				breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(1)	9				OV - Ovarian serous cystadenocarcinoma(123;6.65e-06)		CTGAAACAGGCGCGTCATTCT	0.348													9	24					0	0	1	0	0	T	110608693	C	T	110608693	3	4	79	1	0	0	0	0	1	0	0	0	2763	768	27	1	986	1	CCDC109B	4	110608693	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	3750469	110608693	80545583	131	4152											
HHIP	64399	broad.mit.edu	37	chr4	145580838	145580838	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggaggttgtgagtgggctgCggcagcccgttggtgccctg	4	9	19	9	2	0	1	0	1	0	0	0	2	0	2	2	5	3	4	2	5	0	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:145580838C>T	ENST00000296575.3	+	4	1334	c.679C>T	c.(679-681)Cgg>Tgg	p.R227W	HHIP_ENST00000434550.2_Missense_Mutation_p.R227W|HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000511314.1_3'UTR	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	227						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GAGTGGGCTGCGGCAGCCCGT	0.448													12	132					0	0	1	0	0	T	145580838	C	T	145580838	3	4	79	1	0	0	0	0	1	0	0	0	7133	759	27	1	693	1	HHIP	4	145580838	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	34972145	145580838	45573438	132	4153											
OTUD4	54726	broad.mit.edu	37	chr4	146058591	146058591	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcaacaaccatcaagtgtgCtgtcccctatggccatctcc	9	9	8	15	0	2	0	1	0	1	0	4	0	3	0	5	2	3	2	5	2	4	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:146058591C>T	ENST00000454497.2	-	21	3278	c.3141G>A	c.(3139-3141)caG>caA	p.Q1047Q	OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Silent_p.Q1112Q	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	1111							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					ATCAAGTGTGCTGTCCCCTAT	0.433													14	138					0	0	1	0	0	T	146058591	C	T	146058591	2	4	79	1	0	0	0	0	0	0	0	1	11361	796	28	2		2	OTUD4	4	146058591	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	477753	146058591	45095685	133	4154											
NR3C2	0	broad.mit.edu	37	chr4	149002640	149002640	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagcagaattccagcaggTcgctcaccagctgtaacaca	14	6	9	12	1	1	2	1	0	0	2	3	2	2	2	2	1	4	5	2	1	3	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:149002640T>A	ENST00000355292.3	-	9	3184	c.2822A>T	c.(2821-2823)gAc>gTc	p.D941V	NR3C2_ENST00000342437.4_3'UTR|NR3C2_ENST00000512865.1_Missense_Mutation_p.D820V|NR3C2_ENST00000511528.1_Missense_Mutation_p.D941V|NR3C2_ENST00000344721.4_Missense_Mutation_p.D937V|NR3C2_ENST00000358102.3_Missense_Mutation_p.D937V			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	937	Steroid-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	TTCCAGCAGGTCGCTCACCAG	0.572													17	29					0	0	1	0	0	A	149002640	T	A	149002640	3	1	79	1	0	0	0	0	1	0	0	0	10679	1667	58	5	148	5	NR3C2	4	149002640	Missense_Mutation	SNP	T	TCGA-EJ-7782-01A-11D-2114-08	2944049	149002640	42151636	134	4155											
SH3D19	152503	broad.mit.edu	37	chr4	152053535	152053535	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttttcagtggtacctttgtgCctacattaaaaaaacaaaca	15	13	5	8	0	1	0	1	0	0	0	1	0	1	0	2	1	5	1	2	1	7	6			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:152053535C>T	ENST00000409598.4	-	17	3017	c.1849_splice	c.e17-1	p.S617_splice	SH3D19_ENST00000514152.1_Splice_Site_p.S617_splice|SH3D19_ENST00000427414.2_Splice_Site_p.S581_splice|SH3D19_ENST00000304527.4_Splice_Site_p.S640_splice|SH3D19_ENST00000409252.2_Splice_Site_p.S640_splice|SH3D19_ENST00000455740.1_Splice_Site_p.S617_splice|SH3D19_ENST00000424281.1_Splice_Site_p.S581_splice			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	640	SH3 3.				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				TACCTTTGTGCCTACATTAAA	0.408													3	25					0	0	1	0	0	T	152053535	C	T	152053535	5	4	79	1	0	0	0	0	0	0	1	0	14303	753	26	2	469	2	SH3D19	4	152053535	Splice_Site	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	3050895	152053535	39100741	135	4156											
DDX60L	91351	broad.mit.edu	37	chr4	169340497	169340497	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctttccacccatttttggcGatgaggagcaagcaacagga	11	9	10	11	1	0	1	0	1	0	0	1	4	1	3	3	3	3	2	3	3	2	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr4:169340497G>A	ENST00000511577.1	-	19	2813	c.2566C>T	c.(2566-2568)Cgc>Tgc	p.R856C	DDX60L_ENST00000505890.1_Missense_Mutation_p.R856C|DDX60L_ENST00000260184.7_Missense_Mutation_p.R856C			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	856	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CATTTTTGGCGATGAGGAGCA	0.363													5	2					0	0	1	0	0	A	169340497	G	A	169340497	3	1	79	1	0	0	0	0	1	0	0	0	4402	1058	37	1	2634	1	DDX60L	4	169340497	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	17286962	169340497	21813779	136	4157											
SLC12A7	10723	broad.mit.edu	37	chr5	1083970	1083970	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggagccgttgcagaagaggCcccagagcgcggaggtggct	8	4	19	10	3	0	3	0	0	0	3	0	5	0	5	3	5	3	3	3	5	1	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:1083970C>T	ENST00000264930.5	-	8	1062	c.1019G>A	c.(1018-1020)gGc>gAc	p.G340D		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	340					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GCAGAAGAGGCCCCAGAGCGC	0.652													11	23					0	0	1	0	0	T	1083970	C	T	1083970	3	4	79	1	0	0	0	0	1	0	0	0	14443	739	26	2	2300	2	SLC12A7	5	1083970	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08		1083970	179831290	137	4158											
SLC6A3	6531	broad.mit.edu	37	chr5	1422012	1422012	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccctgaggtcttcacgccCttccagaggctgaagtagag	8	10	11	12	1	2	4	1	2	1	2	4	4	4	4	3	2	0	2	3	2	2	4			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:1422012C>A	ENST00000270349.9	-	5	898	c.771G>T	c.(769-771)aaG>aaT	p.K257N	SLC6A3_ENST00000453492.2_Missense_Mutation_p.K257N	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	257					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	TCTTCACGCCCTTCCAGAGGC	0.637													15	56					2.32078e-09	2.4516e-09	1	1	0	A	1422012	C	A	1422012	3	1	79	1	0	0	0	0	1	0	0	0	14740	680	24	4	1135	4	SLC6A3	5	1422012	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	338042	1422012	179493248	138	4159											
ADAMTS16	170690	broad.mit.edu	37	chr5	5239963	5239963	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaattttcgggcactactttCgactacagacggtcctataa	12	12	7	10	3	0	1	0	0	0	1	3	2	1	1	1	2	2	1	1	2	5	7			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:5239963C>T	ENST00000274181.7	+	16	2586	c.2448C>T	c.(2446-2448)ttC>ttT	p.F816F		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	816	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GCACTACTTTCGACTACAGAC	0.517													15	71					0	0	1	0	0	T	5239963	C	T	5239963	2	4	79	1	0	0	0	0	0	0	0	1	260	883	31	1		1	ADAMTS16	5	5239963	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	3817951	5239963	175675297	139	4160											
KIF2A	3796	broad.mit.edu	37	chr5	61677057	61677057	+	Frame_Shift_Del	DEL	T	T	-																															agctattcttgagcaaaaaaTagacattttaactgaactgc																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:61677057delT	ENST00000381103.2	+	20	2437	c.1952delT	c.(1951-1953)aafs	p.I651fs	KIF2A_ENST00000506857.1_Frame_Shift_Del_p.I625fs|KIF2A_ENST00000401507.3_Frame_Shift_Del_p.I671fs|KIF2A_ENST00000407818.3_Frame_Shift_Del_p.I709fs|KIF2A_ENST00000509663.2_Intron	NM_001243952.1	NP_001230881.1	O00139	KIF2A_HUMAN	kinesin heavy chain member 2A	671					blood coagulation|cell differentiation|cell division|microtubule-based movement|mitotic prometaphase|mitotic spindle organization|nervous system development	centrosome|cytosol|microtubule|spindle pole	ATP binding|microtubule motor activity|protein binding			NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	15		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)		GAGCAAAAAATAGACATTTTA	0.348													49	101	---	---	---	---						-	61677057	T	-	61677057	7	5	79	1	0	1	0	1	0	0	0	0	8339	1406	49	0	2204	0	KIF2A	5	61677057	Frame_Shift_Del	DEL	T	TCGA-EJ-7782-01A-11D-2114-08	56437094	61677057	119238203	140	4161											
ADAMTS6	11174	broad.mit.edu	37	chr5	64629882	64629882	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacttacccagtgttccacaGggcttatttttataagtgca	11	14	7	9	0	0	0	0	0	0	0	1	0	1	0	2	1	3	3	2	1	5	7			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:64629882G>T	ENST00000536360.1	-	8	1917	c.1104C>A	c.(1102-1104)ccC>ccA	p.P368P				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	368	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		GTGTTCCACAGGGCTTATTTT	0.264													10	26					1.58986e-06	1.66213e-06	1	1	0	T	64629882	G	T	64629882	2	4	79	1	0	0	0	0	0	0	0	1	269	987	35	4		4	ADAMTS6	5	64629882	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	2952825	64629882	116285378	141	4162											
ENC1	8507	broad.mit.edu	37	chr5	73931034	73931034	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctcggagtggggccaccAtggtccatttgttgattgtg	5	14	13	9	1	1	1	0	1	1	0	3	2	2	2	3	4	0	1	3	4	0	4			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:73931034A>G	ENST00000302351.4	-	2	2407	c.1277T>C	c.(1276-1278)aTg>aCg	p.M426T	ENC1_ENST00000510316.1_Missense_Mutation_p.M353T|ENC1_ENST00000537006.1_Missense_Mutation_p.M426T	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	426					nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		TGGGGCCACCATGGTCCATTT	0.552													20	45					0	0	1	0	0	G	73931034	A	G	73931034	3	3	79	1	0	0	0	0	1	0	0	0	5141	217	8	3	496	3	ENC1	5	73931034	Missense_Mutation	SNP	A	TCGA-EJ-7782-01A-11D-2114-08	9301152	73931034	106984226	142	4163											
GPR98	84059	broad.mit.edu	37	chr5	89979676	89979677	+	Frame_Shift_Ins	INS	-	-	T																															tgatccatatgggatattcaINSttttttctgagaaaaacaga																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:89979676_89979677insT	ENST00000405460.2	+	28	6034_6035	c.5938_5939insT	c.(5938-5940)tttfs	p.F1980fs		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1980					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.S1982fs*2(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGGGATATTCATTTTTTCTGAG	0.401													15	23	---	---	---	---						T	89979677	-	T	89979676	7	5	79	1	0	1	1	0	0	0	0	0	6762	217	8	0	6048	0	GPR98	5	89979676	Frame_Shift_Ins	INS	-	TCGA-EJ-7782-01A-11D-2114-08	16048642	89979676	90935584	143	4164											
CHSY3	337876	broad.mit.edu	37	chr5	129241153	129241153	+	Frame_Shift_Del	DEL	C	C	-																															agttcttttccagccagcagCcccccaacgccggccagccc																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:129241153delC	ENST00000305031.4	+	1	989	c.631delC	c.(631-633)ccfs	p.P212fs	CTC-575N7.1_ENST00000503616.1_RNA|CTC-575N7.1_ENST00000515569.1_RNA	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	212	Pro-rich.					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		CAGCCAGCAGCCCCCCAACGC	0.667													20	17	---	---	---	---						-	129241153	C	-	129241153	7	5	79	1	0	1	0	1	0	0	0	0	3435	739	26	0	633	0	CHSY3	5	129241153	Frame_Shift_Del	DEL	C	TCGA-EJ-7782-01A-11D-2114-08	39261477	129241153	51674107	144	4165											
P4HA2	8974	broad.mit.edu	37	chr5	131544898	131544898	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcaggtagtccacaggcCtctcatagatgccttctggg	8	9	12	12	0	2	1	1	0	2	1	4	1	3	1	3	4	1	2	3	4	2	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:131544898C>A	ENST00000401867.1	-	8	1404	c.836G>T	c.(835-837)aGg>aTg	p.R279M	P4HA2_ENST00000166534.4_Missense_Mutation_p.R279M|P4HA2_ENST00000379100.2_Missense_Mutation_p.R279M|P4HA2_ENST00000379086.1_Missense_Mutation_p.R279M|P4HA2_ENST00000360568.3_Missense_Mutation_p.R279M|P4HA2_ENST00000379104.2_Missense_Mutation_p.R279M			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	279						endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	GTCCACAGGCCTCTCATAGAT	0.512													7	127					0.00307968	0.00311664	1	1	0	A	131544898	C	A	131544898	3	1	79	1	0	0	0	0	1	0	0	0	11404	681	24	4	871	4	P4HA2	5	131544898	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	2303745	131544898	49370362	145	4166											
PCDHA2	0	broad.mit.edu	37	chr5	140176038	140176038	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtcctactcgctggtggagCggcgggtgggcgagcgcgcg	3	7	20	11	7	0	0	0	0	0	0	2	2	1	1	1	5	3	1	1	5	1	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:140176038C>T	ENST00000526136.1	+	1	1489	c.1489C>T	c.(1489-1491)Cgg>Tgg	p.R497W	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.R497W|PCDHA2_ENST00000378132.1_Missense_Mutation_p.R497W	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGTGGAGCGGCGGGTGGG	0.672													7	62					0	0	1	0	0	T	140176038	C	T	140176038	3	4	79	1	0	0	0	0	1	0	0	0	11571	759	27	1	1491	1	PCDHA2	5	140176038	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	8631140	140176038	40739222	146	4167											
PCDHA5	0	broad.mit.edu	37	chr5	140203213	140203213	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccagcgcctggcagtgcgcGcatcccgttccgcgtggggc	3	6	16	16	6	0	0	0	0	0	0	2	0	2	0	4	3	2	3	4	3	0	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:140203213G>A	ENST00000529859.1	+	1	1853	c.1853G>A	c.(1852-1854)cGc>cAc	p.R618H	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.R618H|PCDHA5_ENST00000378126.3_Missense_Mutation_p.R618H	NM_018908.2	NP_061731.1												p.R618H(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCAGTGCGCGCATCCCGTTC	0.652													15	64					0	0	1	0	0	A	140203213	G	A	140203213	3	1	79	1	0	0	0	0	1	0	0	0	11574	1087	38	1	1855	1	PCDHA5	5	140203213	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	27175	140203213	40712047	147	4168											
PCDHA12	0	broad.mit.edu	37	chr5	140256668	140256668	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagttccaggtgagcgcGcgcgacgccggcgtgccgcc	4	5	16	16	8	0	1	0	1	0	0	1	2	1	1	4	2	3	2	4	2	0	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:140256668G>A	ENST00000398631.2	+	1	1611	c.1611G>A	c.(1609-1611)gcG>gcA	p.A537A	PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGAGCGCGCGCGACGCCG	0.687													50	97					0	0	1	0	0	A	140256668	G	A	140256668	2	1	79	1	0	0	0	0	0	0	0	1	11569	1074	38	1		1	PCDHA12	5	140256668	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	53455	140256668	40658592	148	4169											
PCDHB1	0	broad.mit.edu	37	chr5	140431844	140431844	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatggctctttggtggccacGgtgactgccgtggacctaga	7	10	14	10	2	1	2	0	1	1	1	1	3	1	3	3	5	1	1	3	5	2	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:140431844G>A	ENST00000306549.3	+	1	866	c.789G>A	c.(787-789)acG>acA	p.T263T		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		263	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGTGGCCACGGTGACTGCCG	0.532													6	30					0	0	1	0	0	A	140431844	G	A	140431844	2	1	79	1	0	0	0	0	0	0	0	1	11581	1103	39	1		1	PCDHB1	5	140431844	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	175176	140431844	40483416	149	4170											
PCDHGA2	0	broad.mit.edu	37	chr5	140719302	140719302	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cataagcattccggagaataCgctcgtgggcacccggatac	11	7	11	12	4	0	1	0	0	0	1	2	3	1	2	2	3	3	3	2	3	4	4			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:140719302C>T	ENST00000394576.2	+	1	764	c.764C>T	c.(763-765)aCg>aTg	p.T255M	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGGAGAATACGCTCGTGGGC	0.547													13	91					0	0	1	0	0	T	140719302	C	T	140719302	3	4	79	1	0	0	0	0	1	0	0	0	11601	536	19	1	766	1	PCDHGA2	5	140719302	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	287458	140719302	40195958	150	4171											
SPARC	6678	broad.mit.edu	37	chr5	151046004	151046004	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atagttcttctcgaagtcccGggccagcagctccacggggt	7	9	12	13	3	2	0	0	0	2	0	5	1	4	0	3	3	2	3	3	3	2	3	rs150910656		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:151046004G>A	ENST00000231061.4	-	8	965	c.652C>T	c.(652-654)Cgg>Tgg	p.R218W	SPARC_ENST00000537849.1_5'UTR	NM_003118.3	NP_003109.1	P09486	SPRC_HUMAN	secreted protein, acidic, cysteine-rich (osteonectin)	218					ossification|platelet activation|platelet degranulation|signal transduction	basement membrane|extracellular space|platelet alpha granule lumen	calcium ion binding|collagen binding			central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)	Becaplermin(DB00102)	TCGAAGTCCCGGGCCAGCAGC	0.562													11	29					0	0	1	0	0	A	151046004	G	A	151046004	3	1	79	1	0	0	0	0	1	0	0	0	15051	1115	39	1	271	1	SPARC	5	151046004	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	10326702	151046004	29869256	151	4172											
ADRA1B	147	broad.mit.edu	37	chr5	159344293	159344293	+	Frame_Shift_Del	DEL	G	G	-																															tgggcagccgtggatgtcctGtgctgcacagcgtccattct																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:159344293delG	ENST00000306675.3	+	1	504	c.381delG	c.(379-381)ctfs	p.L127fs		NM_000679.3	NP_000670.1	P35368	ADA1B_HUMAN	adrenoceptor alpha 1B	127					cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)	TGGATGTCCTGTGCTGCACAG	0.622													32	38	---	---	---	---						-	159344293	G	-	159344293	7	5	79	1	0	1	0	1	0	0	0	0	334	1364	48	0	383	0	ADRA1B	5	159344293	Frame_Shift_Del	DEL	G	TCGA-EJ-7782-01A-11D-2114-08	8298289	159344293	21570967	152	4173											
DUSP1	1843	broad.mit.edu	37	chr5	172195842	172195842	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtggacagggatggagaCggggaagttgaacacggtgg	11	5	21	4	2	0	2	0	1	0	1	0	7	0	6	0	8	1	1	0	8	2	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:172195842C>T	ENST00000239223.3	-	4	1269	c.1027G>A	c.(1027-1029)Gtc>Atc	p.V343I	RP11-779O18.3_ENST00000523005.1_RNA	NM_004417.3	NP_004408.1	P28562	DUS1_HUMAN	dual specificity phosphatase 1	343	Tyrosine-protein phosphatase.				cell cycle|endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|liver(1)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10	Renal(175;0.000159)|Lung NSC(126;0.00431)|all_lung(126;0.00729)	all_hematologic(541;4.11e-18)|Breast(839;0.00637)|Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.15)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)	GBM - Glioblastoma multiforme(465;0.0103)		GGGATGGAGACGGGGAAGTTG	0.642													7	60					0	0	1	0	0	T	172195842	C	T	172195842	3	4	79	1	0	0	0	0	1	0	0	0	4835	536	19	1	80	1	DUSP1	5	172195842	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	12851549	172195842	8719418	153	4174											
BNIP1	662	broad.mit.edu	37	chr5	172590779	172590779	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgaagaatttaagtccatgtCgggcaccatccagctgggcc	10	9	11	11	1	0	2	0	1	0	1	3	2	2	2	4	2	1	2	4	2	3	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:172590779C>T	ENST00000231668.9	+	7	775	c.671C>T	c.(670-672)tCg>tTg	p.S224L	BNIP1_ENST00000351486.5_Missense_Mutation_p.S181L|BNIP1_ENST00000352523.6_Missense_Mutation_p.S190L|BNIP1_ENST00000393770.4_Missense_Mutation_p.S147L	NM_013979.2	NP_053582.2	Q12981	SEC20_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 1	181					anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport	integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex	protein binding			breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			AAGTCCATGTCGGGCACCATC	0.498													5	57					0	0	1	0	0	T	172590779	C	T	172590779	3	4	79	1	0	0	0	0	1	0	0	0	1475	893	31	1	697	1	BNIP1	5	172590779	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	394937	172590779	8324481	154	4175											
GRK6	2870	broad.mit.edu	37	chr5	176859091	176859091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggagctgagccgctgcgtcGccttcctggatggggtggtg	3	9	18	11	4	0	1	0	1	0	0	2	3	1	3	3	5	3	2	3	5	0	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr5:176859091G>A	ENST00000355472.5	+	3	412	c.244G>A	c.(244-246)Gcc>Acc	p.A82T	GRK6_ENST00000355958.5_Missense_Mutation_p.A82T|GRK6_ENST00000528793.1_Missense_Mutation_p.A82T|GRK6_ENST00000507633.1_Missense_Mutation_p.A82T|GRK6_ENST00000393576.3_Missense_Mutation_p.A82T	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	82	N-terminal.|RGS.				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCGCTGCGTCGCCTTCCTGGA	0.687													23	42					0	0	1	0	0	A	176859091	G	A	176859091	3	1	79	1	0	0	0	0	1	0	0	0	6834	1087	38	1	254	1	GRK6	5	176859091	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	4268312	176859091	4056169	155	4176											
RANBP9	10048	broad.mit.edu	37	chr6	13644861	13644861	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggattttggttctccactccCgcatatagtcttctatatca	8	16	6	11	1	4	0	1	0	3	0	6	1	5	1	2	2	0	2	2	2	4	8			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr6:13644861C>T	ENST00000011619.3	-	6	1086	c.1028G>A	c.(1027-1029)cGg>cAg	p.R343Q	RANBP9_ENST00000539980.1_Missense_Mutation_p.R114Q	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	343					axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding	p.R343L(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			TCTCCACTCCCGCATATAGTC	0.433													23	61					0	0	1	0	0	T	13644861	C	T	13644861	3	4	79	1	0	0	0	0	1	0	0	0	13084	652	23	1	1197	1	RANBP9	6	13644861	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08		13644861	157470206	156	4177											
BTN2A2	10385	broad.mit.edu	37	chr6	26385530	26385530	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggagaatgggatctacCgctgttacttccaagaaggc	11	8	11	11	1	1	2	0	0	1	2	2	4	2	3	3	3	2	2	3	3	5	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr6:26385530C>T	ENST00000356709.4	+	3	493	c.382C>T	c.(382-384)Cgc>Tgc	p.R128C	BTN2A2_ENST00000469230.1_Missense_Mutation_p.R128C|BTN2A2_ENST00000432533.2_Missense_Mutation_p.R128C|BTN2A2_ENST00000416795.2_Missense_Mutation_p.R128C|BTN2A2_ENST00000482536.1_Intron|BTN2A2_ENST00000352867.2_Intron	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	128	Ig-like V-type.				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						TGGGATCTACCGCTGTTACTT	0.517													11	17					0	0	1	0	0	T	26385530	C	T	26385530	3	4	79	1	0	0	0	0	1	0	0	0	1564	652	23	1	388	1	BTN2A2	6	26385530	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	12740669	26385530	144729537	157	4178											
DHX16	8449	broad.mit.edu	37	chr6	30630690	30630690	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttccctagaaatctcacctCattcccaagcttcacaccca	11	10	3	17	0	3	1	3	0	1	1	6	1	5	1	4	0	1	2	4	0	3	4			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr6:30630690C>T	ENST00000376442.3	-	8	1621	c.1426G>A	c.(1426-1428)Gag>Aag	p.E476K		NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	476	Helicase ATP-binding.				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			kidney(2)|ovary(2)	4						AATCTCACCTCATTCCCAAGC	0.587													10	34					0	0	1	0	0	T	30630690	C	T	30630690	3	4	79	1	0	0	0	0	1	0	0	0	4530	835	29	2	1751	2	DHX16	6	30630690	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	4245160	30630690	140484377	158	4179											
FOXP4	116113	broad.mit.edu	37	chr6	41555240	41555240	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcctactgtgctcacatctCggagagacaggtacaggggt	10	8	13	10	1	2	1	1	0	1	1	3	3	2	2	1	4	4	2	1	4	2	2	rs142575732	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr6:41555240C>T	ENST00000373060.1	+	7	1320	c.862C>T	c.(862-864)Cgg>Tgg	p.R288W	FOXP4_ENST00000373063.3_Missense_Mutation_p.R287W|FOXP4_ENST00000373057.3_Missense_Mutation_p.R286W|FOXP4_ENST00000409208.1_Missense_Mutation_p.R288W|FOXP4_ENST00000307972.4_Missense_Mutation_p.R288W	NM_001012426.1|NM_001012427.1	NP_001012426.1|NP_001012427.1	Q8IVH2	FOXP4_HUMAN	forkhead box P4	288					embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					GCTCACATCTCGGAGAGACAG	0.672											OREG0004065	type=REGULATORY REGION|Gene=FOXP4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	6	51					0	0	1	0	0	T	41555240	C	T	41555240	3	4	79	1	0	0	0	0	1	0	0	0	6063	875	31	1	884	1	FOXP4	6	41555240	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	10924550	41555240	129559827	159	4180											
AARS2	57505	broad.mit.edu	37	chr6	44268380	44268380	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaccactcgtgagccccaCgccttgccccccatgtggct	5	7	9	20	2	0	1	0	1	0	0	1	1	0	1	8	1	2	1	8	1	0	1	rs142694525	by1000genomes	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr6:44268380C>T	ENST00000244571.4	-	22	2864	c.2862G>A	c.(2860-2862)gcG>gcA	p.A954A	TMEM151B_ENST00000438774.2_Intron|AARS2_ENST00000491573.1_5'UTR	NM_020745.3	NP_065796.1	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	954					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	GTGAGCCCCACGCCTTGCCCC	0.612													18	42					0	0	1	0	0	T	44268380	C	T	44268380	2	4	79	1	0	0	0	0	0	0	0	1	20	523	19	1		1	AARS2	6	44268380	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	2713140	44268380	126846687	160	4181											
TDRD6	221400	broad.mit.edu	37	chr6	46660414	46660415	+	Frame_Shift_Ins	INS	-	-	A																															tcttaactggtataatccagINSaaaaaaaaatgataagagct																								rs145334816		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr6:46660414_46660415insA	ENST00000544460.1	+	1	4803_4804	c.4549_4550insA	c.(4549-4551)aaafs	p.K1517fs	TDRD6_ENST00000316081.6_Frame_Shift_Ins_p.K1517fs	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1517					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GTATAATCCAGAAAAAAAAATG	0.351													8	90	---	---	---	---						A	46660415	-	A	46660414	7	5	79	1	0	1	1	0	0	0	0	0	15793	943	33	0	4551	0	TDRD6	6	46660414	Frame_Shift_Ins	INS	-	TCGA-EJ-7782-01A-11D-2114-08	2392034	46660414	124454653	161	4182											
CNR1	0	broad.mit.edu	37	chr6	88853864	88853864	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactgcagaatgcaaacaccGtcttaatgagcttgttcatc	12	12	7	10	1	2	2	1	1	1	1	3	2	2	2	1	0	5	4	1	0	4	4			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr6:88853864G>A	ENST00000537554.1	-	2	4692	c.1130C>T	c.(1129-1131)aCg>aTg	p.T377M	CNR1_ENST00000549890.1_Missense_Mutation_p.T377M|CNR1_ENST00000468898.1_Missense_Mutation_p.T344M|CNR1_ENST00000369499.2_Missense_Mutation_p.T377M|CNR1_ENST00000535130.1_Missense_Mutation_p.T377M|CNR1_ENST00000428600.2_Missense_Mutation_p.T377M|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000549716.1_Missense_Mutation_p.T316M|CNR1_ENST00000369501.2_Missense_Mutation_p.T377M	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	377					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding	p.T377M(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	TGCAAACACCGTCTTAATGAG	0.522													7	52					0	0	1	0	0	A	88853864	G	A	88853864	3	1	79	1	0	0	0	0	1	0	0	0	3654	1145	40	1	292	1	CNR1	6	88853864	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	42193450	88853864	82261203	162	4183											
USP45	85015	broad.mit.edu	37	chr6	99885247	99885247	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccactatgccatagagaccgTagagaactttatctcccaca	13	9	6	13	1	1	2	0	0	1	2	2	4	1	2	4	0	2	1	4	0	5	5			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr6:99885247T>C	ENST00000327681.6	-	17	2721	c.2189A>G	c.(2188-2190)tAc>tGc	p.Y730C	USP45_ENST00000369233.2_Missense_Mutation_p.Y682C|USP45_ENST00000392738.2_Missense_Mutation_p.Y410C|USP45_ENST00000500704.2_Missense_Mutation_p.Y730C|USP45_ENST00000539675.1_Missense_Mutation_p.Y23C	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	730					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		ATAGAGACCGTAGAGAACTTT	0.363													15	19					0	0	1	0	0	C	99885247	T	C	99885247	3	2	79	1	0	0	0	0	1	0	0	0	17136	1638	57	3	263	3	USP45	6	99885247	Missense_Mutation	SNP	T	TCGA-EJ-7782-01A-11D-2114-08	11031383	99885247	71229820	163	4184											
LAMA4	3910	broad.mit.edu	37	chr6	112463376	112463376	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtctcggtcagttccggcCgcttcacagggggtttcatg	5	11	13	12	3	4	0	3	0	1	0	6	0	5	0	2	4	0	3	2	4	0	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr6:112463376C>A	ENST00000230538.7	-	20	3009	c.2612G>T	c.(2611-2613)cGg>cTg	p.R871L	LAMA4_ENST00000522006.1_Missense_Mutation_p.R864L|LAMA4_ENST00000389463.4_Missense_Mutation_p.R864L|LAMA4_ENST00000424408.2_Missense_Mutation_p.R864L	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	871	Laminin G-like 1.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CAGTTCCGGCCGCTTCACAGG	0.473													17	38					1.5739e-10	1.67309e-10	1	1	0	A	112463376	C	A	112463376	3	1	79	1	0	0	0	0	1	0	0	0	8647	652	23	4	2939	4	LAMA4	6	112463376	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	12578129	112463376	58651691	164	4185											
AKAP12	9590	broad.mit.edu	37	chr6	151673127	151673127	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccatgaggagaatgaggtcGcatctggtacccagtcaggg	10	8	14	9	1	2	3	1	2	1	1	4	4	3	3	2	4	1	2	2	4	2	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr6:151673127G>A	ENST00000402676.2	+	4	3841	c.3601G>A	c.(3601-3603)Gca>Aca	p.A1201T	AKAP12_ENST00000253332.1_Missense_Mutation_p.A1201T|AKAP12_ENST00000354675.6_Missense_Mutation_p.A1103T|AKAP12_ENST00000359755.5_Missense_Mutation_p.A1096T	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1201					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GAATGAGGTCGCATCTGGTAC	0.532													5	75					0	0	1	0	0	A	151673127	G	A	151673127	3	1	79	1	0	0	0	0	1	0	0	0	445	1087	38	1	3640	1	AKAP12	6	151673127	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	39209751	151673127	19441940	165	4186											
ZBTB2	57621	broad.mit.edu	37	chr6	151686671	151686671	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacattcagtctagtaagacGgtttcttgttcctttttgat	8	18	8	7	1	3	2	1	1	2	1	4	3	4	2	1	1	0	3	1	1	2	8			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr6:151686671G>A	ENST00000325144.4	-	3	1670	c.1530C>T	c.(1528-1530)acC>acT	p.T510T		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	510					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		CTAGTAAGACGGTTTCTTGTT	0.448													25	60					0	0	1	0	0	A	151686671	G	A	151686671	2	1	79	1	0	0	0	0	0	0	0	1	17587	1103	39	1		1	ZBTB2	6	151686671	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	13544	151686671	19428396	166	4187											
CNKSR3	154043	broad.mit.edu	37	chr6	154727613	154727613	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctggaatggaatcgtggCgctgctgtggagatctgagt	7	11	15	8	2	1	2	0	1	1	1	3	5	2	4	1	4	1	2	1	4	2	0			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr6:154727613C>T	ENST00000607772.1	-	13	2087	c.1543G>A	c.(1543-1545)Gcc>Acc	p.A515T	CNKSR3_ENST00000479339.1_Missense_Mutation_p.A435T|CNKSR3_ENST00000433165.2_Missense_Mutation_p.A340T	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	515	DUF1170.				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		GGAATCGTGGCGCTGCTGTGG	0.572													4	60					0	0	1	0	0	T	154727613	C	T	154727613	3	4	79	1	0	0	0	0	1	0	0	0	3631	768	27	1	128	1	CNKSR3	6	154727613	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	3040942	154727613	16387454	167	4188											
TCP1	6950	broad.mit.edu	37	chr6	160209177	160209178	+	Splice_Site	DEL	TG	TG	-																															atcgaagctgcagccataacTgtagacaatcaattaaaaat																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr6:160209177_160209178delTG	ENST00000321394.7	-	2	345		c.e2-2		TCP1_ENST00000544255.1_Intron|TCP1_ENST00000392168.2_Intron|TCP1_ENST00000420894.2_Splice_Site	NM_030752.2	NP_110379.2	P17987	TCPA_HUMAN	t-complex 1						'de novo' posttranslational protein folding|tubulin complex assembly	cell junction|Golgi apparatus	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		CAGCCATAACTGTAGACAATCA	0.371													9	42	---	---	---	---						-	160209178	TG	-	160209177	8	5	79	1	0	1	0	1	0	0	1	0	15769	1594	55	0	1651	0	TCP1	6	160209177	Splice_Site	DEL	TG	TCGA-EJ-7782-01A-11D-2114-08	5481564	160209177	10905890	168	4189											
C6orf118	168090	broad.mit.edu	37	chr6	165715064	165715064	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgccctcctcacctgctgCagctttctctcgtggcccgc	2	11	9	19	2	2	0	1	0	1	0	5	0	3	0	4	1	4	4	4	1	0	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr6:165715064C>T	ENST00000543069.1	-	2	1016	c.435G>A	c.(433-435)ctG>ctA	p.L145L	C6orf118_ENST00000230301.8_Silent_p.L249L			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	249										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		TCACCTGCTGCAGCTTTCTCT	0.607													7	83					0	0	1	0	0	T	165715064	C	T	165715064	2	4	79	1	0	0	0	0	0	0	0	1	2337	697	25	2		2	C6orf118	6	165715064	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	5505887	165715064	5400003	169	4190											
LFNG	3955	broad.mit.edu	37	chr7	2565181	2565181	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcccatccaggccatggagCgggtcagcgagaacaaggtg	10	4	16	11	2	1	1	1	0	0	1	2	3	2	2	3	5	3	0	3	5	2	0	rs143479850	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:2565181C>T	ENST00000222725.5	+	4	735	c.715C>T	c.(715-717)Cgg>Tgg	p.R239W	LFNG_ENST00000359574.3_Missense_Mutation_p.R239W|LFNG_ENST00000338732.3_Missense_Mutation_p.R110W|LFNG_ENST00000402506.1_Missense_Mutation_p.R168W|LFNG_ENST00000402045.1_Missense_Mutation_p.R110W	NM_001040167.1	NP_001035257.1	Q8NES3	LFNG_HUMAN	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	239					organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		GGCCATGGAGCGGGTCAGCGA	0.716													4	10					0	0	1	0	0	T	2565181	C	T	2565181	3	4	79	1	0	0	0	0	1	0	0	0	8776	759	27	1	1005	1	LFNG	7	2565181	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08		2565181	156573482	170	4191											
MIOS	54468	broad.mit.edu	37	chr7	7645694	7645694	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catgctggacatatgcttagTtggttcaggtaatcagcaca	11	12	10	8	0	2	0	2	0	0	0	2	1	2	1	0	3	3	6	0	3	3	5			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:7645694T>C	ENST00000340080.4	+	12	2944	c.2523T>C	c.(2521-2523)agT>agC	p.S841S	MIOS_ENST00000405785.1_Silent_p.S841S	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	841										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ATATGCTTAGTTGGTTCAGGT	0.388													47	89					0	0	1	0	0	C	7645694	T	C	7645694	2	2	79	1	0	0	0	0	0	0	0	1	9637	1722	60	3		3	MIOS	7	7645694	Silent	SNP	T	TCGA-EJ-7782-01A-11D-2114-08	5080513	7645694	151492969	171	4192											
PRPS1L1	221823	broad.mit.edu	37	chr7	18066568	18066568	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggagcaatgcttcatctTctcatcttgaggtatggtat	8	17	9	7	0	4	1	2	1	3	0	5	2	4	2	0	3	2	4	0	3	3	6			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:18066568T>C	ENST00000506618.2	-	1	918	c.838A>G	c.(838-840)Aag>Gag	p.K280E		NM_175886.2	NP_787082.1	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	280					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					TGCTTCATCTTCTCATCTTGA	0.428													46	79					0	0	1	0	0	C	18066568	T	C	18066568	3	2	79	1	0	0	0	0	1	0	0	0	12631	1792	62	3	122	3	PRPS1L1	7	18066568	Missense_Mutation	SNP	T	TCGA-EJ-7782-01A-11D-2114-08	10420874	18066568	141072095	172	4193											
STK31	56164	broad.mit.edu	37	chr7	23826531	23826531	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctgttcaagccaacatgccTttaaattcagaagtaagtaa	15	11	7	8	0	2	1	2	0	0	1	2	1	2	1	2	0	3	4	2	0	7	6			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:23826531T>A	ENST00000354639.3	+	20	2870	c.2406T>A	c.(2404-2406)ccT>ccA	p.P802P	STK31_ENST00000355870.3_Silent_p.P825P|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Silent_p.P802P|STK31_ENST00000433467.2_Silent_p.P825P	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	825	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CCAACATGCCTTTAAATTCAG	0.363													7	89					0	0	1	0	0	A	23826531	T	A	23826531	2	1	79	1	0	0	0	0	0	0	0	1	15352	1596	56	5		5	STK31	7	23826531	Silent	SNP	T	TCGA-EJ-7782-01A-11D-2114-08	5759963	23826531	135312132	173	4194											
CDK13	8621	broad.mit.edu	37	chr7	40102431	40102431	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgtgttttttagtcggccGtatactaacaaggtaattac	10	16	8	7	2	1	0	0	0	1	0	2	0	1	0	1	2	3	3	1	2	7	8	rs145734382	by1000genomes	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:40102431G>A	ENST00000181839.4	+	8	3212	c.2607G>A	c.(2605-2607)ccG>ccA	p.P869P	CDK13_ENST00000484589.1_3'UTR|CDK13_ENST00000340829.5_Silent_p.P869P	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	869	Protein kinase.				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						TTAGTCGGCCGTATACTAACA	0.388													24	207					0	0	1	0	0	A	40102431	G	A	40102431	2	1	79	1	0	0	0	0	0	0	0	1	3151	1132	40	1		1	CDK13	7	40102431	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	16275900	40102431	119036232	174	4195											
C7orf57	136288	broad.mit.edu	37	chr7	48081003	48081003	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	accagcgtcccagatcccagGtctcagcaatttgggagact	10	8	10	13	1	1	2	1	0	1	2	4	3	3	2	3	2	2	1	3	2	1	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:48081003G>T	ENST00000348904.3	+	3	340	c.128G>T	c.(127-129)gGt>gTt	p.G43V	C7orf57_ENST00000539619.1_Missense_Mutation_p.G43V|C7orf57_ENST00000435376.1_5'UTR|C7orf57_ENST00000430738.1_Missense_Mutation_p.G88V|C7orf57_ENST00000420324.1_Missense_Mutation_p.G88V	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN	chromosome 7 open reading frame 57	43										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						CAGATCCCAGGTCTCAGCAAT	0.537													10	27					1.33987e-11	1.43033e-11	1	1	0	T	48081003	G	T	48081003	3	4	79	1	0	0	0	0	1	0	0	0	2420	1261	44	4	134	4	C7orf57	7	48081003	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	7978572	48081003	111057660	175	4196											
TPST1	8460	broad.mit.edu	37	chr7	65705780	65705780	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaagtaaagagaagatccGcctggatgaggctggtgtta	12	9	14	6	1	1	3	1	1	0	2	2	5	2	4	2	3	0	3	2	3	5	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:65705780G>A	ENST00000304842.5	+	2	793	c.368G>A	c.(367-369)cGc>cAc	p.R123H	TPST1_ENST00000480281.1_Intron	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN	tyrosylprotein sulfotransferase 1	123					inflammatory response|peptidyl-tyrosine sulfation	Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						GAGAAGATCCGCCTGGATGAG	0.507													4	56					0	0	1	0	0	A	65705780	G	A	65705780	3	1	79	1	0	0	0	0	1	0	0	0	16488	1087	38	1	370	1	TPST1	7	65705780	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	17624777	65705780	93432883	176	4197											
FZD9	8326	broad.mit.edu	37	chr7	72849235	72849235	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgaccaggaggcgggcGcgctctacgtgatccaggag	7	6	16	12	4	1	2	0	2	1	0	2	4	2	4	3	4	1	1	3	4	1	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:72849235G>A	ENST00000344575.3	+	1	1127	c.898G>A	c.(898-900)Gcg>Acg	p.A300T		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled family receptor 9	300					B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGAGGCGGGCGCGCTCTACGT	0.632													27	43					0	0	1	0	0	A	72849235	G	A	72849235	3	1	79	1	0	0	0	0	1	0	0	0	6172	1087	38	1	900	1	FZD9	7	72849235	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	7143455	72849235	86289428	177	4198											
STAG3L2	0	broad.mit.edu	37	chr7	74301240	74301240	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcctcaatgcagatagcaCggatctcaggaaggacatcc	12	9	9	11	1	2	1	2	0	1	1	5	4	4	4	2	3	2	2	2	3	3	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:74301240C>T	ENST00000423186.1	-	0	499							P0CL84	ST3L2_HUMAN								nucleus	binding			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						GCAGATAGCACGGATCTCAGG	0.458													55	131					0	0	1	0	0	T	74301240	C	T	74301240	1	4	79	0	1	0	0	0	0	0	0	0	15301	536	19	1		1	STAG3L2	7	74301240	RNA	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	1452005	74301240	84837423	178	4199											
DMTF1	9988	broad.mit.edu	37	chr7	86817443	86817444	+	Frame_Shift_Ins	INS	-	-	A																															taaacagttacatgagaaccINSaaaaaaacaacccaacgctt																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:86817443_86817444insA	ENST00000414194.2	+	13	2231_2232	c.439_440insA	c.(439-441)aaafs	p.K147fs	DMTF1_ENST00000413276.2_Intron|DMTF1_ENST00000331242.7_Frame_Shift_Ins_p.K413fs|DMTF1_ENST00000394703.5_Frame_Shift_Ins_p.K413fs|DMTF1_ENST00000432937.2_Frame_Shift_Ins_p.K325fs			Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	413	Interaction with CCND2 (By similarity).|Required for DNA-binding (By similarity).|Required for transcriptional activation (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					ACATGAGAACCAAAAAAACAAC	0.411													17	57	---	---	---	---						A	86817444	-	A	86817443	7	5	79	1	0	1	1	0	0	0	0	0	4620	595	21	0	1279	0	DMTF1	7	86817443	Frame_Shift_Ins	INS	-	TCGA-EJ-7782-01A-11D-2114-08	12516203	86817443	72321220	179	4200											
AKAP9	10142	broad.mit.edu	37	chr7	91712544	91712544	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccaagttagggatcacctcGcagaggcaaaagagaaattg	15	6	12	8	1	1	2	1	0	0	2	2	4	1	3	2	2	0	3	2	2	5	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:91712544G>T	ENST00000359028.2	+	34	8482	c.8257G>T	c.(8257-8259)Gca>Tca	p.A2753S	AKAP9_ENST00000356239.3_Missense_Mutation_p.A2741S|AKAP9_ENST00000358100.2_Missense_Mutation_p.A2753S			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2753	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GGATCACCTCGCAGAGGCAAA	0.368			T	BRAF	papillary thyroid								11	43					3.86212e-05	3.97202e-05	1	1	0	T	91712544	G	T	91712544	3	4	79	1	0	0	0	0	1	0	0	0	456	1087	38	4	8351	4	AKAP9	7	91712544	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	4895101	91712544	67426119	180	4201											
AKAP9	10142	broad.mit.edu	37	chr7	91726086	91726086	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caacagaaacaactactgaaCgaatcccagcaaaaaataga	22	4	5	10	1	0	3	0	1	0	2	1	4	1	3	1	0	6	1	1	0	10	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:91726086C>T	ENST00000359028.2	+	41	10050	c.9825C>T	c.(9823-9825)aaC>aaT	p.N3275N	AKAP9_ENST00000356239.3_Silent_p.N3271N|AKAP9_ENST00000358100.2_Silent_p.N3221N			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3275					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AACTACTGAACGAATCCCAGC	0.383			T	BRAF	papillary thyroid								6	69					0	0	1	0	0	T	91726086	C	T	91726086	2	4	79	1	0	0	0	0	0	0	0	1	456	535	19	1		1	AKAP9	7	91726086	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	13542	91726086	67412577	181	4202											
TFR2	7036	broad.mit.edu	37	chr7	100218565	100218565	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgagcagggctagctgaCgccggaaacggctctcctgg	8	6	16	11	3	1	2	0	2	1	0	2	3	1	3	2	5	3	4	2	5	2	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:100218565C>T	ENST00000462107.1	-	19	2608	c.2321G>A	c.(2320-2322)cGt>cAt	p.R774H	TFR2_ENST00000431692.1_3'UTR|TFR2_ENST00000544242.1_Missense_Mutation_p.R315H|TFR2_ENST00000223051.3_Missense_Mutation_p.R774H			Q9UP52	TFR2_HUMAN	transferrin receptor 2	774					cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GGCTAGCTGACGCCGGAAACG	0.657													10	16					0	0	1	0	0	T	100218565	C	T	100218565	3	4	79	1	0	0	0	0	1	0	0	0	15871	536	19	1	88	1	TFR2	7	100218565	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	8492479	100218565	58920098	182	4203											
GIGYF1	64599	broad.mit.edu	37	chr7	100280926	100280926	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggcttgggagcacccaCgtgcttgcgccgaaacagct	8	7	13	13	3	0	1	0	1	0	0	0	3	0	2	2	2	5	4	2	2	1	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:100280926C>T	ENST00000275732.5	-	18	3403		c.e18+1			NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1											central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GGAGCACCCACGTGCTTGCGC	0.642													30	49					0	0	1	0	0	T	100280926	C	T	100280926	5	4	79	1	0	0	0	0	0	0	1	0	6419	550	19	1	941	1	GIGYF1	7	100280926	Splice_Site	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	62361	100280926	58857737	183	4204											
GIGYF1	64599	broad.mit.edu	37	chr7	100284287	100284287	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaccagggctggcggagcGccagcggtcgccgtctcgcc	4	5	15	17	6	2	0	1	0	1	0	4	1	2	1	4	4	2	1	4	4	0	0			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:100284287G>A	ENST00000275732.5	-	7	1888	c.679C>T	c.(679-681)Cgc>Tgc	p.R227C	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	227										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CTGGCGGAGCGCCAGCGGTCG	0.687													27	47					0	0	1	0	0	A	100284287	G	A	100284287	3	1	79	1	0	0	0	0	1	0	0	0	6419	1087	38	1	2500	1	GIGYF1	7	100284287	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	3361	100284287	58854376	184	4205											
MUC17	140453	broad.mit.edu	37	chr7	100685313	100685313	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaggctagcaccctttcaaCaactcctgttgactccaaca	11	10	6	14	0	1	2	1	2	0	0	3	2	3	2	3	1	4	3	3	1	4	3	rs138135476		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:100685313C>T	ENST00000306151.4	+	3	10680	c.10616C>T	c.(10615-10617)aCa>aTa	p.T3539I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3539	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACCCTTTCAACAACTCCTGTT	0.483													19	386					0	0	1	0	0	T	100685313	C	T	100685313	3	4	79	1	0	0	0	0	1	0	0	0	10022	478	17	2	10626	2	MUC17	7	100685313	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	401026	100685313	58453350	185	4206											
TRIM56	81844	broad.mit.edu	37	chr7	100732487	100732487	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctggaggcaaggccagcCggggcctgcgggcgctggtg	4	6	19	12	3	0	0	0	0	0	0	1	1	1	1	4	7	2	2	4	7	1	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:100732487C>T	ENST00000306085.6	+	3	2191	c.1894C>T	c.(1894-1896)Cgg>Tgg	p.R632W		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	632					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					CAAGGCCAGCCGGGGCCTGCG	0.652													27	48					0	0	1	0	0	T	100732487	C	T	100732487	3	4	79	1	0	0	0	0	1	0	0	0	16591	643	23	1	1896	1	TRIM56	7	100732487	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	47174	100732487	58406176	186	4207											
CUX1	1523	broad.mit.edu	37	chr7	101921226	101921226	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctccccccccaggagaacCgcctggcccagcacaccctc	7	3	7	24	1	0	1	0	0	0	1	2	2	1	1	9	2	2	1	9	2	1	0			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:101921226C>T	ENST00000437600.4	+	18	1916	c.1564C>T	c.(1564-1566)Cgc>Tgc	p.R522C	CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000292538.4_Missense_Mutation_p.R524C|CUX1_ENST00000547394.2_Missense_Mutation_p.R508C|CUX1_ENST00000425244.2_Missense_Mutation_p.R478C|CUX1_ENST00000393824.3_Missense_Mutation_p.R485C	NM_181500.2	NP_852477.1	P39880	CUX1_HUMAN	cut-like homeobox 1	335					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CCAGGAGAACCGCCTGGCCCA	0.642													3	2					0	0	1	0	0	T	101921226	C	T	101921226	3	4	79	1	0	0	0	0	1	0	0	0	4087	652	23	1	5010	1	CUX1	7	101921226	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	1188739	101921226	57217437	187	4208											
DNAJC2	27000	broad.mit.edu	37	chr7	102964991	102964992	+	Frame_Shift_Ins	INS	-	-	T																															tatcaccaagtttaggaacaINSttttttttatttgaccatct																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr7:102964991_102964992insT	ENST00000379263.3	-	6	840_841	c.590_591insA	c.(589-591)agtfs	p.S197fs	PMPCB_ENST00000420236.2_Intron|DNAJC2_ENST00000249270.7_Frame_Shift_Ins_p.S197fs	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	197	ZRF1-UBD.				'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						GTTTAGGAACATTTTTTTTATT	0.238													18	51	---	---	---	---						T	102964992	-	T	102964991	7	5	79	1	0	1	1	0	0	0	0	0	4666	214	8	0	1322	0	DNAJC2	7	102964991	Frame_Shift_Ins	INS	-	TCGA-EJ-7782-01A-11D-2114-08	1043765	102964991	56173672	188	4209											
LAMB1	3912	broad.mit.edu	37	chr7	107592541	107592541	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagctgccaggtattgggCgcacagcggtcacagttctg	7	8	14	12	2	2	0	1	0	1	0	2	0	2	0	2	3	3	4	2	3	1	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:107592541C>T	ENST00000393561.1	-	21	3463	c.3279G>A	c.(3277-3279)gcG>gcA	p.A1093A	LAMB1_ENST00000222399.6_Silent_p.A1069A			P07942	LAMB1_HUMAN	laminin, beta 1	1069	Laminin EGF-like 12.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGGTATTGGGCGCACAGCGGT	0.572													3	11					0	0	1	0	0	T	107592541	C	T	107592541	2	4	79	1	0	0	0	0	0	0	0	1	8649	755	27	1		1	LAMB1	7	107592541	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	4627550	107592541	51546122	189	4210											
LRRN3	54674	broad.mit.edu	37	chr7	110763518	110763518	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcacagaaataccagataaCgccttggttggactggaaaa	15	8	9	9	1	1	2	1	0	0	2	1	4	1	4	2	3	2	1	2	3	5	4	rs146797927		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:110763518C>T	ENST00000451085.1	+	4	1736	c.690C>T	c.(688-690)aaC>aaT	p.N230N	IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000331762.3_Intron|LRRN3_ENST00000308478.5_Silent_p.N230N|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000450877.1_Intron|LRRN3_ENST00000422987.3_Silent_p.N230N	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	230						integral to membrane		p.N230N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		TACCAGATAACGCCTTGGTTG	0.358													7	66					0	0	1	0	0	T	110763518	C	T	110763518	2	4	79	1	0	0	0	0	0	0	0	1	9081	535	19	1		1	LRRN3	7	110763518	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	3170977	110763518	48375145	190	4211											
C7orf60	154743	broad.mit.edu	37	chr7	112579785	112579785	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcgcacgagcagtatttcgGccgccggcccctggctccat	5	8	12	16	5	0	0	0	0	0	0	2	1	1	0	5	3	2	4	5	3	1	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:112579785G>A	ENST00000297145.4	-	1	186	c.21C>T	c.(19-21)ggC>ggT	p.G7G		NM_152556.2	NP_689769.2	Q1RMZ1	CG060_HUMAN	chromosome 7 open reading frame 60	7										breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						CAGTATTTCGGCCGCCGGCCC	0.726													6	9					0	0	1	0	0	A	112579785	G	A	112579785	2	1	79	1	0	0	0	0	0	0	0	1	2423	1190	42	2		2	C7orf60	7	112579785	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	1816267	112579785	46558878	191	4212											
SPAM1	0	broad.mit.edu	37	chr7	123594472	123594472	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctatgtgcgcaatcgagttcGggaagccatcagagtttcca	10	10	11	10	3	1	1	1	0	0	1	4	3	2	2	2	1	2	3	2	1	3	3	rs147745114		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:123594472G>A	ENST00000340011.5	+	3	1205	c.848G>A	c.(847-849)cGg>cAg	p.R283Q	SPAM1_ENST00000439500.1_Missense_Mutation_p.R283Q|SPAM1_ENST00000223028.7_Missense_Mutation_p.R283Q|SPAM1_ENST00000460182.1_Missense_Mutation_p.R283Q|SPAM1_ENST00000402183.2_Missense_Mutation_p.R283Q	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	283					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	AATCGAGTTCGGGAAGCCATC	0.423													27	46					0	0	1	0	0	A	123594472	G	A	123594472	3	1	79	1	0	0	0	0	1	0	0	0	15042	1116	39	1	850	1	SPAM1	7	123594472	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	11014687	123594472	35544191	192	4213											
GCC1	79571	broad.mit.edu	37	chr7	127223060	127223060	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctggcttttcctggccgCaacctgcagcagcctcttca	6	10	8	17	1	2	0	1	0	1	0	3	0	3	0	5	2	4	4	5	2	1	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:127223060C>T	ENST00000321407.2	-	2	1760	c.1336G>A	c.(1336-1338)Gcg>Acg	p.A446T	GCC1_ENST00000497650.1_5'UTR	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	446						Golgi membrane|plasma membrane	protein binding			breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TTCCTGGCCGCAACCTGCAGC	0.557													20	64					0	0	1	0	0	T	127223060	C	T	127223060	3	4	79	1	0	0	0	0	1	0	0	0	6325	710	25	2	995	2	GCC1	7	127223060	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	3628588	127223060	31915603	193	4214											
ZNF777	27153	broad.mit.edu	37	chr7	149133690	149133690	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagttcctctgctgcaccaGcatctgcttcagttcgctga	6	12	9	14	1	3	1	1	1	2	0	5	1	4	1	2	0	4	8	2	0	0	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:149133690G>A	ENST00000247930.4	-	5	1638	c.1315C>T	c.(1315-1317)Ctg>Ttg	p.L439L		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	439	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TGCTGCACCAGCATCTGCTTC	0.657													24	51					0	0	1	0	0	A	149133690	G	A	149133690	2	1	79	1	0	0	0	0	0	0	0	1	18199	962	34	2		2	ZNF777	7	149133690	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	21910630	149133690	10004973	194	4215											
GIMAP8	155038	broad.mit.edu	37	chr7	150174667	150174667	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtgtgggcggcgagtttgTgcttttaacaacaaagaaac	13	10	12	6	2	0	1	0	0	0	1	0	2	0	1	0	2	4	2	0	2	5	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr7:150174667T>G	ENST00000307271.3	+	5	2371	c.1797T>G	c.(1795-1797)tgT>tgG	p.C599W		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	599						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GGCGAGTTTGTGCTTTTAACA	0.473													27	55					0	0	1	0	0	G	150174667	T	G	150174667	3	3	79	1	0	0	0	0	1	0	0	0	6427	1702	59	5	1811	5	GIMAP8	7	150174667	Missense_Mutation	SNP	T	TCGA-EJ-7782-01A-11D-2114-08	1040977	150174667	8963996	195	4216											
SLC7A2	6542	broad.mit.edu	37	chr8	17400870	17400870	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgattccttgcagagccgcgCtgacctttgcccgatgtctg	5	12	11	13	3	1	3	0	2	1	1	2	4	2	3	4	0	3	2	4	0	0	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:17400870C>T	ENST00000470360.1	+	4	259	c.142C>T	c.(142-144)Ctg>Ttg	p.L48L	SLC7A2_ENST00000494857.1_Silent_p.L8L|SLC7A2_ENST00000004531.10_Silent_p.L48L|SLC7A2_ENST00000398090.3_Silent_p.L48L|SLC7A2_ENST00000522656.1_Silent_p.L8L			P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	8					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	CAGAGCCGCGCTGACCTTTGC	0.522													14	13					0	0	1	0	0	T	17400870	C	T	17400870	2	4	79	1	0	0	0	0	0	0	0	1	14752	796	28	2		2	SLC7A2	8	17400870	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08		17400870	128963152	196	4217											
PNMA2	10687	broad.mit.edu	37	chr8	26365435	26365435	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggatggcgcgtttctccacCgctctccggagcagggtttc	4	10	14	13	4	2	0	0	0	2	0	5	2	2	2	3	4	1	4	3	4	0	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:26365435C>T	ENST00000522362.2	-	3	1731	c.837G>A	c.(835-837)gcG>gcA	p.A279A		NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN	paraneoplastic Ma antigen 2	279					apoptosis	nucleolus	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		gtttctccaccgctctccgga	0.602													5	46					0	0	1	0	0	T	26365435	C	T	26365435	2	4	79	1	0	0	0	0	0	0	0	1	12202	639	23	1		1	PNMA2	8	26365435	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	8964565	26365435	119998587	197	4218											
UNC5D	137970	broad.mit.edu	37	chr8	35425622	35425622	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctcccaccatcaggtttgaAggtccgcgaagtgttcatca	9	11	9	12	2	4	1	3	1	1	0	6	2	5	1	3	2	0	2	3	2	2	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:35425622A>G	ENST00000287272.2	+	3	349	c.329A>G	c.(328-330)aAg>aGg	p.K110R	UNC5D_ENST00000420357.1_Missense_Mutation_p.K110R|UNC5D_ENST00000416672.1_Missense_Mutation_p.K110R|UNC5D_ENST00000453357.2_Missense_Mutation_p.K105R|UNC5D_ENST00000404895.2_Missense_Mutation_p.K110R			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	110	Ig-like.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TCAGGTTTGAAGGTCCGCGAA	0.463													11	131					0	0	1	0	0	G	35425622	A	G	35425622	3	3	79	1	0	0	0	0	1	0	0	0	17055	72	3	3	339	3	UNC5D	8	35425622	Missense_Mutation	SNP	A	TCGA-EJ-7782-01A-11D-2114-08	9060187	35425622	110938400	198	4219											
GPR124	25960	broad.mit.edu	37	chr8	37697698	37697698	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctggatgggcgtgaaggcGcgagtgctccataaggagct	8	8	16	9	3	1	1	0	1	1	0	2	4	2	3	1	4	2	2	1	4	2	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:37697698G>A	ENST00000315215.7	+	14	2283	c.1920G>A	c.(1918-1920)gcG>gcA	p.A640A	GPR124_ENST00000412232.2_Silent_p.A857A			Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	857					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GCGTGAAGGCGCGAGTGCTCC	0.632													14	32					0	0	1	0	0	A	37697698	G	A	37697698	2	1	79	1	0	0	0	0	0	0	0	1	6678	1074	38	1		1	GPR124	8	37697698	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	2272076	37697698	108666324	199	4220											
PLAT	5327	broad.mit.edu	37	chr8	42046568	42046568	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttgctggtatatcatctgcGttttttcatctctgcagatc	6	18	8	9	1	4	1	2	0	2	1	6	1	4	1	0	1	3	5	0	1	2	6			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:42046568G>A	ENST00000220809.4	-	4	393	c.137C>T	c.(136-138)aCg>aTg	p.T46M	PLAT_ENST00000524009.1_Missense_Mutation_p.T46M|PLAT_ENST00000429710.2_Missense_Mutation_p.T46M|PLAT_ENST00000519510.1_Missense_Mutation_p.T46M|PLAT_ENST00000352041.3_Intron|PLAT_ENST00000429089.2_Missense_Mutation_p.T46M|PLAT_ENST00000270189.6_Missense_Mutation_p.T46M	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	46	Fibronectin type-I.|Important for binding to annexin A2.				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TATCATCTGCGTTTTTTCATC	0.493													7	130					0	0	1	0	0	A	42046568	G	A	42046568	3	1	79	1	0	0	0	0	1	0	0	0	12069	1145	40	1	1595	1	PLAT	8	42046568	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	4348870	42046568	104317454	200	4221											
POTEA	340441	broad.mit.edu	37	chr8	43147834	43147834	+	RNA	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cgagaagatctgggcaagctCcacagagctgcctggtgggg	9	6	16	10	1	1	3	0	0	1	3	2	4	2	3	2	4	3	3	2	4	2	0			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:43147834C>G	ENST00000522175.2	+	0	209							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGGGCAAGCTCCACAGAGCTG	0.582													17	40					0	0	1	0	0	G	43147834	C	G	43147834	1	3	79	0	1	0	0	0	0	0	0	0	12309	842	30	4		4	POTEA	8	43147834	RNA	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	1101266	43147834	103216188	201	4222											
VCPIP1	80124	broad.mit.edu	37	chr8	67577666	67577666	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaccaaattgttcaagggaaAgctgtaatttttgtcagtcc	13	13	8	7	0	2	0	2	0	0	0	3	1	3	1	2	1	2	3	2	1	5	5			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:67577666A>G	ENST00000310421.4	-	1	1786	c.1528T>C	c.(1528-1530)Ttt>Ctt	p.F510L		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	510					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TTCAAGGGAAAGCTGTAATTT	0.423													65	147					0	0	1	0	0	G	67577666	A	G	67577666	3	3	79	1	0	0	0	0	1	0	0	0	17201	72	3	3	2152	3	VCPIP1	8	67577666	Missense_Mutation	SNP	A	TCGA-EJ-7782-01A-11D-2114-08	24429832	67577666	78786356	202	4223											
SLCO5A1	81796	broad.mit.edu	37	chr8	70744219	70744219	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaggccgtcgttgggggcCgaggcgttcaactcttggat	6	9	15	11	4	2	0	1	0	1	0	3	2	2	1	2	5	1	2	2	5	1	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:70744219C>T	ENST00000260126.3	-	2	1396	c.690G>A	c.(688-690)tcG>tcA	p.S230S	SLCO5A1_ENST00000528658.1_5'UTR|SLCO5A1_ENST00000524945.1_Silent_p.S230S|SLCO5A1_ENST00000530307.1_Silent_p.S230S	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	230						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CGTTGGGGGCCGAGGCGTTCA	0.632													15	24					0	0	1	0	0	T	70744219	C	T	70744219	2	4	79	1	0	0	0	0	0	0	0	1	14786	639	23	1		1	SLCO5A1	8	70744219	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	3166553	70744219	75619803	203	4224											
RGS22	26166	broad.mit.edu	37	chr8	101014478	101014478	+	Frame_Shift_Del	DEL	T	T	-																															ctgttgggtccaaagaaataTtttttattaaggtatttgtt																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:101014478delT	ENST00000360863.6	-	18	2936	c.2742delA	c.(2740-2742)aafs	p.K914fs	RGS22_ENST00000523287.1_Frame_Shift_Del_p.K733fs|RGS22_ENST00000523437.1_Frame_Shift_Del_p.K902fs	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	914	RGS 1.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CAAAGAAATATTTTTTATTAA	0.343													20	31	---	---	---	---						-	101014478	T	-	101014478	7	5	79	1	0	1	0	1	0	0	0	0	13355	1490	52	0	1092	0	RGS22	8	101014478	Frame_Shift_Del	DEL	T	TCGA-EJ-7782-01A-11D-2114-08	30270259	101014478	45349544	204	4225											
PKHD1L1	93035	broad.mit.edu	37	chr8	110412530	110412530	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctacatcaagggtgatgaccGttatgctatttattttagcc	10	15	8	8	1	1	2	1	2	0	0	1	2	1	2	2	1	3	2	2	1	6	7			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:110412530G>A	ENST00000378402.5	+	13	1342	c.1238G>A	c.(1237-1239)cGt>cAt	p.R413H		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	413					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGTGATGACCGTTATGCTATT	0.368										HNSCC(38;0.096)			6	82					0	0	1	0	0	A	110412530	G	A	110412530	3	1	79	1	0	0	0	0	1	0	0	0	12020	1145	40	1	1288	1	PKHD1L1	8	110412530	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	9398052	110412530	35951492	205	4226											
FAM135B	51059	broad.mit.edu	37	chr8	139164500	139164500	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agaagcctggatgccgcttgGcaaacttgtgttactttctg	8	13	11	9	1	1	1	0	0	1	1	1	2	1	2	2	2	4	3	2	2	3	4			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:139164500G>A	ENST00000395297.1	-	13	2388	c.2218C>T	c.(2218-2220)Cca>Tca	p.P740S		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	740										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ATGCCGCTTGGCAAACTTGTG	0.522										HNSCC(54;0.14)			11	31					0	0	1	0	0	A	139164500	G	A	139164500	3	1	79	1	0	0	0	0	1	0	0	0	5480	1203	42	2	2034	2	FAM135B	8	139164500	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	28751970	139164500	7199522	206	4227											
TOP1MT	116447	broad.mit.edu	37	chr8	144406194	144406194	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatgaaatacagggccaccGcccgctgtctcgtcttcatt	8	10	9	14	4	3	1	1	1	2	0	4	2	3	1	3	1	1	1	3	1	2	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:144406194G>T	ENST00000523676.1	-	8	1046	c.641C>A	c.(640-642)gCg>gAg	p.A214E	TOP1MT_ENST00000521193.1_Missense_Mutation_p.A214E|TOP1MT_ENST00000519148.1_Missense_Mutation_p.A214E|TOP1MT_ENST00000329245.4_Missense_Mutation_p.A312E			Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	312					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	CAGGGCCACCGCCCGCTGTCT	0.582													21	46					1.00905e-13	1.08634e-13	1	1	0	T	144406194	G	T	144406194	3	4	79	1	0	0	0	0	1	0	0	0	16425	1087	38	4	902	4	TOP1MT	8	144406194	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	5241694	144406194	1957828	207	4228											
EPPK1	83481	broad.mit.edu	37	chr8	144940628	144940628	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaagccggtggccgcctgcGcctccagcagcaccagggcc	6	3	14	18	4	0	0	0	0	0	0	1	1	1	0	7	3	4	2	7	3	1	0			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:144940628G>A	ENST00000525985.1	-	2	6865	c.6794C>T	c.(6793-6795)gCg>gTg	p.A2265V				P58107	EPIPL_HUMAN	epiplakin 1	2265						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGCCGCCTGCGCCTCCAGCAG	0.726													6	86					0	0	1	0	0	A	144940628	G	A	144940628	3	1	79	1	0	0	0	0	1	0	0	0	5218	1087	38	1	472	1	EPPK1	8	144940628	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	534434	144940628	1423394	208	4229											
EPPK1	83481	broad.mit.edu	37	chr8	144941378	144941378	+	Frame_Shift_Del	DEL	C	C	-																															ggtgctgtgggtcgatgacaCcccccgtggccacctgcacc																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:144941378delC	ENST00000525985.1	-	2	6115	c.6044delG	c.(6043-6045)gtfs	p.G2015fs				P58107	EPIPL_HUMAN	epiplakin 1	2015						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GTCGATGACACCCCCCGTGGC	0.622													9	22	---	---	---	---						-	144941378	C	-	144941378	7	5	79	1	0	1	0	1	0	0	0	0	5218	507	18	0	1222	0	EPPK1	8	144941378	Frame_Shift_Del	DEL	C	TCGA-EJ-7782-01A-11D-2114-08	750	144941378	1422644	209	4230											
PPP1R16A	84988	broad.mit.edu	37	chr8	145722826	145722826	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaggccgctgcccgaaatgaCctggaagaaggtgagtgtgg	10	6	17	8	2	0	3	0	2	0	1	0	6	0	4	3	4	1	1	3	4	3	0			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr8:145722826C>T	ENST00000292539.4	+	2	1166	c.249C>T	c.(247-249)gaC>gaT	p.D83D	CTD-2517M22.14_ENST00000532766.1_RNA|CTD-2517M14.5_ENST00000569326.1_RNA|PPP1R16A_ENST00000435887.1_Silent_p.D83D			Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory subunit 16A	83						plasma membrane	protein binding			NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CCCGAAATGACCTGGAAGAAG	0.662													5	22					0	0	1	0	0	T	145722826	C	T	145722826	2	4	79	1	0	0	0	0	0	0	0	1	12414	506	18	2		2	PPP1R16A	8	145722826	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	781448	145722826	641196	210	4231											
PLAA	9373	broad.mit.edu	37	chr9	26925851	26925851	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaccacaatgtcaccattgtCgagcacacagcagcaccata	15	6	6	14	1	1	0	1	0	0	0	2	1	1	0	3	0	4	3	3	0	3	2	rs138585651	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr9:26925851C>T	ENST00000397292.3	-	6	1258	c.841G>A	c.(841-843)Gac>Aac	p.D281N	PLAA_ENST00000520884.1_Missense_Mutation_p.D281N	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	281					phospholipid metabolic process|signal transduction		phospholipase A2 activator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		TCACCATTGTCGAGCACACAG	0.433													19	77					0	0	1	0	0	T	26925851	C	T	26925851	3	4	79	1	0	0	0	0	1	0	0	0	12059	884	31	1	1582	1	PLAA	9	26925851	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08		26925851	114287580	211	4232											
APBA1	320	broad.mit.edu	37	chr9	72131916	72131916	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgcgccaggcattccccgcGctcctcttcctcctggccga	3	8	10	20	5	1	0	0	0	1	0	5	1	5	0	7	2	0	2	7	2	0	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr9:72131916G>A	ENST00000265381.4	-	2	433	c.211C>T	c.(211-213)Cgc>Tgc	p.R71C		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	71					axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						CATTCCCCGCGCTCCTCTTCC	0.731													4	10					0	0	1	0	0	A	72131916	G	A	72131916	3	1	79	1	0	0	0	0	1	0	0	0	752	1087	38	1	2350	1	APBA1	9	72131916	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	45206065	72131916	69081515	212	4233											
ZNF367	195828	broad.mit.edu	37	chr9	99150564	99150564	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggttggcaagctctatgagCgcgagggctccatgcaggcg	8	7	16	10	3	1	1	0	1	1	0	2	2	2	1	1	4	3	5	1	4	2	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr9:99150564C>T	ENST00000375256.4	-	5	1304	c.1008G>A	c.(1006-1008)gcG>gcA	p.A336A		NM_153695.3	NP_710162.1	Q7RTV3	ZN367_HUMAN	zinc finger protein 367	336					regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(4)|large_intestine(3)|lung(3)|prostate(1)	12		Acute lymphoblastic leukemia(62;0.0167)				GCTCTATGAGCGCGAGGGCTC	0.577													4	36					0	0	1	0	0	T	99150564	C	T	99150564	2	4	79	1	0	0	0	0	0	0	0	1	17928	755	27	1		1	ZNF367	9	99150564	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	27018648	99150564	42062867	213	4234											
ABCA1	19	broad.mit.edu	37	chr9	107555161	107555167	+	Frame_Shift_Del	DEL	AGAGGAG	AGAGGAG	-																															catcttcatcttcatcattcAgaggagatagctttgcattt																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr9:107555161_107555167delAGAGGAG	ENST00000374736.3	-	42	6051_6057	c.5657_5663delCTCCTCT	c.(5656-5664)tgfs	p.SPL1886fs		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1886					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TTCATCATTCAGAGGAGATAGCTTTGC	0.386													21	55	---	---	---	---						-	107555167	AGAGGAG	-	107555161	7	5	79	1	0	1	0	1	0	0	0	0	28	188	7	0	1158	0	ABCA1	9	107555161	Frame_Shift_Del	DEL	AGAGGAG	TCGA-EJ-7782-01A-11D-2114-08	8404597	107555161	33658270	214	4235											
PTPN3	0	broad.mit.edu	37	chr9	112145796	112145796	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagccgccgtggttcatgacGtcggggggatctggccagta	7	8	16	10	4	2	1	1	1	1	0	3	2	2	2	3	5	1	2	3	5	2	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr9:112145796G>A	ENST00000412145.1	-	18	4449	c.1896C>T	c.(1894-1896)gaC>gaT	p.D632D	PTPN3_ENST00000262539.3_Silent_p.D609D|PTPN3_ENST00000446349.1_Silent_p.D587D|PTPN3_ENST00000374541.2_Silent_p.D763D|PTPN3_ENST00000394827.3_Silent_p.D231D	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	763					negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GGTTCATGACGTCGGGGGGAT	0.562													12	46					0	0	1	0	0	A	112145796	G	A	112145796	2	1	79	1	0	0	0	0	0	0	0	1	12841	1136	40	1		1	PTPN3	9	112145796	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	4590635	112145796	29067635	215	4236											
COL27A1	85301	broad.mit.edu	37	chr9	116930357	116930357	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcactctggtgactgcctgCgggcagcgccgggtgcctgt	3	9	16	13	3	2	1	1	1	1	0	2	1	2	1	3	3	4	1	3	3	0	0			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr9:116930357C>T	ENST00000356083.3	+	3	913	c.522C>T	c.(520-522)tgC>tgT	p.C174C		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	174	Laminin G-like.|TSP N-terminal.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TGACTGCCTGCGGGCAGCGCC	0.682													10	27					0	0	1	0	0	T	116930357	C	T	116930357	2	4	79	1	0	0	0	0	0	0	0	1	3708	776	27	1		1	COL27A1	9	116930357	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	4784561	116930357	24283074	216	4237											
COL27A1	85301	broad.mit.edu	37	chr9	117072950	117072950	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggaagcagtaccgcctggAagttggacctgcgtgcttcc	8	8	14	11	2	0	0	0	0	0	0	1	3	1	3	4	3	4	4	4	3	3	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr9:117072950A>G	ENST00000356083.3	+	61	5949	c.5558A>G	c.(5557-5559)gAa>gGa	p.E1853G		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1853	Fibrillar collagen NC1.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TACCGCCTGGAAGTTGGACCT	0.607													11	29					0	0	1	0	0	G	117072950	A	G	117072950	3	3	79	1	0	0	0	0	1	0	0	0	3708	246	9	3	5800	3	COL27A1	9	117072950	Missense_Mutation	SNP	A	TCGA-EJ-7782-01A-11D-2114-08	142593	117072950	24140481	217	4238											
AKNA	80709	broad.mit.edu	37	chr9	117129977	117129977	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcctcgagctgatggccacCctggaatacacaactgctga	10	8	9	14	1	0	2	0	2	0	0	2	4	1	3	3	2	4	2	3	2	3	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr9:117129977C>A	ENST00000307564.4	-	6	1735	c.1573_splice	c.e6-1	p.G525_splice	AKNA_ENST00000312033.3_Splice_Site_p.G525_splice|AKNA_ENST00000374075.5_Splice_Site_p.G444_splice|AKNA_ENST00000374088.3_Splice_Site_p.G525_splice|AKNA_ENST00000223791.3_5'UTR	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	525					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						TGATGGCCACCCTGGAATACA	0.582													18	17					8.28177e-16	8.95422e-16	1	1	0	A	117129977	C	A	117129977	5	1	79	1	0	0	0	0	0	0	1	0	460	637	22	4	2813	4	AKNA	9	117129977	Splice_Site	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	57027	117129977	24083454	218	4239											
TNC	3371	broad.mit.edu	37	chr9	117849133	117849133	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactcattctccacgcatcGtccacggttgtagcaattgt	8	12	8	13	3	2	0	1	0	1	0	5	0	3	0	2	1	1	5	2	1	2	4			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr9:117849133G>A	ENST00000350763.4	-	3	1288	c.877C>T	c.(877-879)Cga>Tga	p.R293*	TNC_ENST00000535648.1_Nonsense_Mutation_p.R293*|TNC_ENST00000423613.2_Nonsense_Mutation_p.R293*|TNC_ENST00000345230.3_Nonsense_Mutation_p.R293*|TNC_ENST00000341037.4_Nonsense_Mutation_p.R293*|TNC_ENST00000537320.1_Nonsense_Mutation_p.R293*|TNC_ENST00000346706.3_Nonsense_Mutation_p.R293*|TNC_ENST00000340094.3_Nonsense_Mutation_p.R293*|TNC_ENST00000542877.1_Nonsense_Mutation_p.R293*	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	293	EGF-like 5.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TCCACGCATCGTCCACGGTTG	0.562													15	74					0	0	1	0	0	A	117849133	G	A	117849133	4	1	79	1	0	0	0	0	0	1	0	0	16330	1153	40	1	5832	1	TNC	9	117849133	Nonsense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	719156	117849133	23364298	219	4240											
RALGPS1	9649	broad.mit.edu	37	chr9	129931001	129931001	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcagaagtacctgaagtcCgtacgctacattgaagagct	12	9	11	9	2	0	4	0	2	0	2	1	4	1	4	2	0	5	5	2	0	6	4			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr9:129931001C>T	ENST00000259351.5	+	10	1059	c.792C>T	c.(790-792)tcC>tcT	p.S264S	RALGPS1_ENST00000373434.1_Silent_p.S264S|RALGPS1_ENST00000424082.2_Silent_p.S264S|RALGPS1_ENST00000394022.3_Silent_p.S264S|RALGPS1_ENST00000373436.1_Silent_p.S264S	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	264	Ras-GEF.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity	p.S264S(2)		kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						ACCTGAAGTCCGTACGCTACA	0.527													9	78					0	0	1	0	0	T	129931001	C	T	129931001	2	4	79	1	0	0	0	0	0	0	0	1	13069	639	23	1		1	RALGPS1	9	129931001	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	12081868	129931001	11282430	220	4241											
CERCAM	51148	broad.mit.edu	37	chr9	131196462	131196462	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acttcagggggcggctggagCggctgatggaggatgtggag	7	7	21	6	2	1	1	1	1	0	0	1	5	1	5	0	8	1	2	0	8	0	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr9:131196462C>T	ENST00000372842.1	+	11	4195	c.1051C>T	c.(1051-1053)Cgg>Tgg	p.R351W	CERCAM_ENST00000372838.4_Missense_Mutation_p.R429W			Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	429					cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						GCGGCTGGAGCGGCTGATGGA	0.632													6	36					0	0	1	0	0	T	131196462	C	T	131196462	3	4	79	1	0	0	0	0	1	0	0	0	3288	759	27	1	1323	1	CERCAM	9	131196462	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	1265461	131196462	10016969	221	4242											
TTF1	7270	broad.mit.edu	37	chr9	135277260	135277260	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tattcctgcagtttcaccatGcaggcccacagcaggccggg	8	8	11	14	1	1	0	1	0	0	0	2	0	2	0	4	3	3	4	4	3	1	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr9:135277260G>A	ENST00000334270.2	-	2	988	c.949C>T	c.(949-951)Cat>Tat	p.H317Y		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	317					negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		GTTTCACCATGCAGGCCCACA	0.493													39	85					0	0	1	0	0	A	135277260	G	A	135277260	3	1	79	1	0	0	0	0	1	0	0	0	16780	1319	46	2	1808	2	TTF1	9	135277260	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	4080798	135277260	5936171	222	4243											
SURF6	6838	broad.mit.edu	37	chr9	136199101	136199101	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggtagttcctcccggtcagCggcgtgaggttccccttcac	4	10	12	15	4	2	1	2	1	0	0	5	1	5	1	4	4	1	3	4	4	1	4			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr9:136199101C>T	ENST00000372022.4	-	5	955	c.690G>A	c.(688-690)ccG>ccA	p.P230P	SURF6_ENST00000468290.1_5'UTR	NM_006753.4	NP_006744.2	O75683	SURF6_HUMAN	surfeit 6	230						granular component	DNA binding|RNA binding			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	12				OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)		TCCCGGTCAGCGGCGTGAGGT	0.672													11	39					0	0	1	0	0	T	136199101	C	T	136199101	2	4	79	1	0	0	0	0	0	0	0	1	15462	755	27	1		1	SURF6	9	136199101	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	921841	136199101	5014330	223	4244											
DBH	1621	broad.mit.edu	37	chr9	136501639	136501639	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccgtgagagccccctcccctAtcacatccccctggacccgg	6	6	8	21	2	1	1	1	1	0	1	3	3	3	2	8	2	1	0	8	2	1	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr9:136501639A>G	ENST00000393056.2	+	1	158	c.146A>G	c.(145-147)tAt>tGt	p.Y49C		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	49					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	CCCCTCCCCTATCACATCCCC	0.642													4	29					0	0	1	0	0	G	136501639	A	G	136501639	3	3	79	1	0	0	0	0	1	0	0	0	4274	449	16	3	148	3	DBH	9	136501639	Missense_Mutation	SNP	A	TCGA-EJ-7782-01A-11D-2114-08	302538	136501639	4711792	224	4245											
KCNT1	57582	broad.mit.edu	37	chr9	138657029	138657029	+	Frame_Shift_Del	DEL	C	C	-																															ctgaacgagttctacgcccaCccccggctccaggtgaggcc																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr9:138657029delC	ENST00000298480.5	+	12	1262	c.1188delC	c.(1186-1188)cafs	p.H396fs	KCNT1_ENST00000488444.2_Frame_Shift_Del_p.H377fs|KCNT1_ENST00000487664.1_Frame_Shift_Del_p.H351fs|KCNT1_ENST00000491806.2_Frame_Shift_Del_p.H363fs|KCNT1_ENST00000490355.2_Frame_Shift_Del_p.H377fs|KCNT1_ENST00000371757.2_Frame_Shift_Del_p.H396fs|KCNT1_ENST00000263604.3_Frame_Shift_Del_p.H377fs|KCNT1_ENST00000486577.2_Frame_Shift_Del_p.H357fs			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	396						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		TCTACGCCCACCCCCGGCTCC	0.642													12	40	---	---	---	---						-	138657029	C	-	138657029	7	5	79	1	0	1	0	1	0	0	0	0	8135	506	18	0	1234	0	KCNT1	9	138657029	Frame_Shift_Del	DEL	C	TCGA-EJ-7782-01A-11D-2114-08	2155390	138657029	2556402	225	4246											
MAMDC4	158056	broad.mit.edu	37	chr9	139748345	139748345	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgaccacaggccgcatcCggggtgacttccgagtgagc	8	6	14	13	3	0	3	0	3	0	0	2	4	2	3	4	3	1	1	4	3	0	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr9:139748345C>T	ENST00000445819.1	+	5	621	c.571C>T	c.(571-573)Cgg>Tgg	p.R191W	MAMDC4_ENST00000317446.2_Missense_Mutation_p.R191W|MAMDC4_ENST00000485732.1_3'UTR			Q6UXC1	AEGP_HUMAN	MAM domain containing 4	191	MAM 1.				protein transport	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		AGGCCGCATCCGGGGTGACTT	0.657													3	17					0	0	1	0	0	T	139748345	C	T	139748345	3	4	79	1	0	0	0	0	1	0	0	0	9254	643	23	1	589	1	MAMDC4	9	139748345	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	1091316	139748345	1465086	226	4247											
WDR37	22884	broad.mit.edu	37	chr10	1149689	1149689	+	Frame_Shift_Del	DEL	G	G	-																															tcgcctccgactggctggttGgggggaagcaggctgtgact																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:1149689delG	ENST00000358220.1	+	10	1018	c.874delG	c.(874-876)ggfs	p.G293fs	WDR37_ENST00000263150.4_Frame_Shift_Del_p.G293fs			Q9Y2I8	WDR37_HUMAN	WD repeat domain 37	293										breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		CTGGCTGGTTGGGGGGAAGCA	0.642													16	45	---	---	---	---						-	1149689	G	-	1149689	7	5	79	1	0	1	0	1	0	0	0	0	17351	1348	47	0	908	0	WDR37	10	1149689	Frame_Shift_Del	DEL	G	TCGA-EJ-7782-01A-11D-2114-08		1149689	134385058	227	4248											
USP6NL	9712	broad.mit.edu	37	chr10	11505706	11505706	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcgtgcctcctgtggggCgccccgctctccctcctgcc	0	10	11	20	3	1	0	0	0	1	0	5	0	3	0	7	2	3	2	7	2	0	0			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:11505706C>T	ENST00000379237.1	-	15	1615	c.1221G>A	c.(1219-1221)gcG>gcA	p.A407A	USP6NL_ENST00000277575.5_Silent_p.A424A	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	407						intracellular	Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						TCCTGTGGGGCGCCCCGCTCT	0.692													7	25					0	0	1	0	0	T	11505706	C	T	11505706	2	4	79	1	0	0	0	0	0	0	0	1	17147	755	27	1		1	USP6NL	10	11505706	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	10356017	11505706	124029041	228	4249											
DCLRE1C	64421	broad.mit.edu	37	chr10	14961816	14961816	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tccgtactttgggaagaccgGcataaaggctttaagctgaa	12	10	11	8	2	0	2	0	1	0	1	1	3	1	3	2	3	2	4	2	3	6	5			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:14961816G>A	ENST00000453695.2	-	13	1161	c.717C>T	c.(715-717)tgC>tgT	p.C239C	DCLRE1C_ENST00000378249.1_Silent_p.C244C|DCLRE1C_ENST00000378289.4_Silent_p.C359C|DCLRE1C_ENST00000378246.2_Silent_p.C244C|DCLRE1C_ENST00000378255.1_Silent_p.C239C|DCLRE1C_ENST00000378278.2_Silent_p.C359C|DCLRE1C_ENST00000396817.2_Silent_p.C239C|DCLRE1C_ENST00000378258.1_Silent_p.C239C|DCLRE1C_ENST00000378242.1_Silent_p.C12C|DCLRE1C_ENST00000492201.1_5'UTR|DCLRE1C_ENST00000378254.1_Silent_p.C239C|DCLRE1C_ENST00000357717.2_Silent_p.C244C	NM_001033855.1	NP_001029027.1	Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	359					DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						GGGAAGACCGGCATAAAGGCT	0.378								Non-homologous end-joining					5	65					0	0	1	0	0	A	14961816	G	A	14961816	2	1	79	1	0	0	0	0	0	0	0	1	4319	1195	42	2		2	DCLRE1C	10	14961816	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	3456110	14961816	120572931	229	4250											
FAM171A1	221061	broad.mit.edu	37	chr10	15254959	15254959	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggcctctcctcccgtttctgCcaggggcttttcttgtcttc	1	16	9	15	1	4	0	0	0	4	0	7	0	5	0	4	3	1	2	4	3	0	5			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:15254959C>T	ENST00000378116.4	-	8	2634	c.2628G>A	c.(2626-2628)tgG>tgA	p.W876*		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	876						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						CCCGTTTCTGCCAGGGGCTTT	0.512													32	72					0	0	1	0	0	T	15254959	C	T	15254959	4	4	79	1	0	0	0	0	0	1	0	0	5520	740	26	2	48	2	FAM171A1	10	15254959	Nonsense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	293143	15254959	120279788	230	4251											
ZNF37A	7587	broad.mit.edu	37	chr10	38407509	38407509	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaatgtgggaaaaccttccGtcagaagtcagccctaattg	12	10	10	9	1	2	2	2	1	0	1	3	3	3	3	3	1	2	0	3	1	5	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:38407509G>A	ENST00000351773.3	+	8	2260	c.1430G>A	c.(1429-1431)cGt>cAt	p.R477H	ZNF37A_ENST00000361085.4_Missense_Mutation_p.R477H	NM_001007094.2	NP_001007095.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	477						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						AAAACCTTCCGTCAGAAGTCA	0.403													29	57					0	0	1	0	0	A	38407509	G	A	38407509	3	1	79	1	0	0	0	0	1	0	0	0	17929	1145	40	1	1444	1	ZNF37A	10	38407509	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	23152550	38407509	97127238	231	4252											
BMS1	9790	broad.mit.edu	37	chr10	43285947	43285947	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttaaaacacaggttctggacGgaagtttacccggtacgaag	13	9	11	8	3	1	0	0	0	1	0	1	3	1	2	1	4	3	3	1	4	6	5			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:43285947G>A	ENST00000374518.4	+	5	687	c.624G>A	c.(622-624)acG>acA	p.T208T		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	208					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GGTTCTGGACGGAAGTTTACC	0.413													24	50					0	0	1	0	0	A	43285947	G	A	43285947	2	1	79	1	0	0	0	0	0	0	0	1	1471	1103	39	1		1	BMS1	10	43285947	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	4878438	43285947	92248800	232	4253											
TET1	80312	broad.mit.edu	37	chr10	70451231	70451231	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggttttgattgagtgtgcccGgcgagagctgcacgctacca	7	10	14	10	3	0	3	0	2	0	1	0	4	0	3	2	2	4	4	2	2	1	4			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:70451231G>A	ENST00000373644.4	+	12	6280	c.6071G>A	c.(6070-6072)cGg>cAg	p.R2024Q		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	2024					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	p.R2024Q(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GAGTGTGCCCGGCGAGAGCTG	0.522													32	56					0	0	1	0	0	A	70451231	G	A	70451231	3	1	79	1	0	0	0	0	1	0	0	0	15828	1116	39	1	6113	1	TET1	10	70451231	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	27165284	70451231	65083516	233	4254											
DDX50	79009	broad.mit.edu	37	chr10	70679687	70679687	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggagggctattattttctgtGagaccaagaagaatgtaact	13	12	11	5	0	1	3	0	1	1	3	1	5	1	4	1	2	1	2	1	2	6	5			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:70679687G>A	ENST00000373585.3	+	8	1296	c.1189G>A	c.(1189-1191)Gag>Aag	p.E397K	DDX50_ENST00000466265.1_3'UTR	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	397	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						TATTTTCTGTGAGACCAAGAA	0.413													16	71					0	0	1	0	0	A	70679687	G	A	70679687	3	1	79	1	0	0	0	0	1	0	0	0	4391	1291	45	2	1219	2	DDX50	10	70679687	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	228456	70679687	64855060	234	4255											
NDST2	8509	broad.mit.edu	37	chr10	75563390	75563390	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcactgtgatgatcttggctCgtggcaggagggcagccccc	6	8	15	12	1	1	2	0	2	1	0	2	3	1	3	2	4	1	4	2	4	0	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:75563390C>T	ENST00000299641.4	-	12	2685	c.1715G>A	c.(1714-1716)cGa>cAa	p.R572Q	NDST2_ENST00000309979.6_Missense_Mutation_p.R695Q	NM_003635.3	NP_003626.1	P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	695	Heparan sulfate N-deacetylase 2.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					GATCTTGGCTCGTGGCAGGAG	0.557													16	97					0	0	1	0	0	T	75563390	C	T	75563390	3	4	79	1	0	0	0	0	1	0	0	0	10303	884	31	1	587	1	NDST2	10	75563390	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	4883703	75563390	59971357	235	4256											
TNKS2	80351	broad.mit.edu	37	chr10	93572757	93572757	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taggttttgggcggaaagacGtagttgaatatttgcttcag	10	14	13	4	2	1	2	1	1	0	1	1	3	1	3	0	3	1	4	0	3	5	8			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:93572757G>A	ENST00000371627.4	+	2	596	c.217G>A	c.(217-219)Gta>Ata	p.V73I		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	73					positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				GCGGAAAGACGTAGTTGAATA	0.383													8	72					0	0	1	0	0	A	93572757	G	A	93572757	3	1	79	1	0	0	0	0	1	0	0	0	16381	1145	40	1	223	1	TNKS2	10	93572757	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	18009367	93572757	41961990	236	4257											
BTAF1	9044	broad.mit.edu	37	chr10	93768864	93768864	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttccttagtggtttgtccGccaacattaacaggccattg	8	13	8	12	1	0	0	0	0	0	0	2	0	2	0	5	2	2	1	5	2	3	5			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:93768864G>A	ENST00000265990.6	+	28	4310	c.4002G>A	c.(4000-4002)ccG>ccA	p.P1334P	BTAF1_ENST00000544642.1_Silent_p.P162P	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1334	Helicase ATP-binding.				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	p.P1334P(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TGGTTTGTCCGCCAACATTAA	0.408													21	47					0	0	1	0	0	A	93768864	G	A	93768864	2	1	79	1	0	0	0	0	0	0	0	1	1538	1074	38	1		1	BTAF1	10	93768864	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	196107	93768864	41765883	237	4258											
PLCE1	51196	broad.mit.edu	37	chr10	96081787	96081787	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtcatcaaagcaccccgcGtcagcactgcacaggatgtc	11	6	9	15	2	3	0	3	0	0	0	4	1	3	1	2	1	3	3	2	1	1	0			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:96081787G>A	ENST00000260766.3	+	30	7106	c.6472G>A	c.(6472-6474)Gtc>Atc	p.V2158I	NOC3L_ENST00000543788.1_Intron|PLCE1_ENST00000371375.1_Missense_Mutation_p.V1850I|PLCE1_ENST00000371380.2_Missense_Mutation_p.V2158I|PLCE1_ENST00000371385.3_Missense_Mutation_p.V1850I	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	2158	Ras-associating 2.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AGCACCCCGCGTCAGCACTGC	0.478													14	23					0	0	1	0	0	A	96081787	G	A	96081787	3	1	79	1	0	0	0	0	1	0	0	0	12082	1145	40	1	6872	1	PLCE1	10	96081787	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	2312923	96081787	39452960	238	4259											
CWF19L1	55280	broad.mit.edu	37	chr10	101995439	101995439	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cataccttccaaactgcaaaGgaaaattctttttaattctg	14	14	4	9	0	2	0	0	0	2	0	3	1	3	1	2	1	3	1	2	1	6	7			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:101995439G>T	ENST00000354105.4	-	13	1543	c.1457C>A	c.(1456-1458)cCt>cAt	p.P486H	CWF19L1_ENST00000478047.1_5'UTR|CWF19L1_ENST00000370379.1_Missense_Mutation_p.P201H	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control (S. pombe)	486							catalytic activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		AAACTGCAAAGGAAAATTCTT	0.363													5	23					1	1	1	1	0	T	101995439	G	T	101995439	3	4	79	1	0	0	0	0	1	0	0	0	4094	1000	35	4	167	4	CWF19L1	10	101995439	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	5913652	101995439	33539308	239	4260											
SEMA4G	57715	broad.mit.edu	37	chr10	102737391	102737391	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccacctcatcccacagacGgagtgctttaaccatgtgcg	9	9	8	15	2	1	1	1	0	0	1	3	2	3	2	4	1	3	1	4	1	1	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:102737391G>A	ENST00000210633.3	+	4	417	c.339G>A	c.(337-339)acG>acA	p.T113T	SEMA4G_ENST00000517724.1_Silent_p.T113T|SEMA4G_ENST00000370250.4_Silent_p.T113T|SEMA4G_ENST00000519756.1_3'UTR			Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	113	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		TCCCACAGACGGAGTGCTTTA	0.572													29	56					0	0	1	0	0	A	102737391	G	A	102737391	2	1	79	1	0	0	0	0	0	0	0	1	14090	1103	39	1		1	SEMA4G	10	102737391	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	741952	102737391	32797356	240	4261											
LDB1	8861	broad.mit.edu	37	chr10	103867967	103867967	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgttaaagctgtcctcgtcGtcaatgccgttggctgcgtc	5	14	11	11	4	1	0	1	0	0	0	5	0	2	0	2	1	3	4	2	1	3	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:103867967G>A	ENST00000361198.5	-	11	1634	c.1011C>T	c.(1009-1011)gaC>gaT	p.D337D	LDB1_ENST00000425280.1_Silent_p.D373D	NM_003893.4	NP_003884.1	Q86U70	LDB1_HUMAN	LIM domain binding 1	373	LIM-binding domain (LID) (By similarity).				histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	nuclear chromatin|protein complex	LIM domain binding|protein homodimerization activity|transcription corepressor activity	p.D373D(1)|p.D337D(1)		breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		TGTCCTCGTCGTCAATGCCGT	0.622													5	67					0	0	1	0	0	A	103867967	G	A	103867967	2	1	79	1	0	0	0	0	0	0	0	1	8734	1136	40	1		1	LDB1	10	103867967	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	1130576	103867967	31666780	241	4262											
EMX2	2018	broad.mit.edu	37	chr10	119303006	119303006	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgttcgccgaggcggtctcGcacccgcccaaccccgccgt	4	6	12	19	7	1	0	0	0	1	0	3	1	1	0	6	2	1	2	6	2	1	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:119303006G>A	ENST00000553456.3	+	1	1052	c.228G>A	c.(226-228)tcG>tcA	p.S76S	EMX2OS_ENST00000551288.1_RNA|EMX2_ENST00000442245.4_Silent_p.S76S	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN	empty spiracles homeobox 2	76						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)		AGGCGGTCTCGCACCCGCCCA	0.726													3	12					0	0	1	0	0	A	119303006	G	A	119303006	2	1	79	1	0	0	0	0	0	0	0	1	5136	1074	38	1		1	EMX2	10	119303006	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	15435039	119303006	16231741	242	4263											
MKI67	4288	broad.mit.edu	37	chr10	129899559	129899559	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacacctcttgacactccgcGttactctctgcacagatttg	8	12	6	15	2	2	2	0	1	2	1	4	2	3	2	2	0	2	2	2	0	1	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:129899559G>A	ENST00000368654.3	-	14	10043	c.9668C>T	c.(9667-9669)aCg>aTg	p.T3223M	MKI67_ENST00000368653.3_Missense_Mutation_p.T2863M	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	3223					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GACACTCCGCGTTACTCTCTG	0.433													7	74					0	0	1	0	0	A	129899559	G	A	129899559	3	1	79	1	0	0	0	0	1	0	0	0	9646	1145	40	1	110	1	MKI67	10	129899559	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	10596553	129899559	5635188	243	4264											
JAKMIP3	282973	broad.mit.edu	37	chr10	133976844	133976844	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcagtggaagcgccaggtCatgagtgagctgcgcgagcg	9	5	18	9	4	1	2	1	2	0	0	1	5	1	3	1	2	5	2	1	2	1	0	rs143722443		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr10:133976844C>A	ENST00000298622.4	+	19	2484	c.2346C>A	c.(2344-2346)gtC>gtA	p.V782V	JAKMIP3_ENST00000477275.1_3'UTR	NM_001105521.2	NP_001098991.1			Janus kinase and microtubule interacting protein 3											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		AGCGCCAGGTCATGAGTGAGC	0.687													3	9					0.004672	0.00471863	1	1	0	A	133976844	C	A	133976844	2	1	79	1	0	0	0	0	0	0	0	1	7986	813	29	4		4	JAKMIP3	10	133976844	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	4077285	133976844	1557903	244	4265											
DUSP8	1850	broad.mit.edu	37	chr11	1578608	1578608	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agccgcattccctgtggcagCgctctctgaggtaggtggtg	5	10	15	11	2	1	1	0	1	1	0	3	1	2	1	2	4	2	4	2	4	1	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:1578608C>T	ENST00000397374.3	-	7	1145	c.1018G>A	c.(1018-1020)Gct>Act	p.A340T	DUSP8_ENST00000331588.4_Missense_Mutation_p.A340T	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN	dual specificity phosphatase 8	340	Pro-rich.|Tyrosine-protein phosphatase.				inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		CCTGTGGCAGCGCTCTCTGAG	0.796													3	5					0	0	1	0	0	T	1578608	C	T	1578608	3	4	79	1	0	0	0	0	1	0	0	0	4857	768	27	1	863	1	DUSP8	11	1578608	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08		1578608	133427908	245	4266											
CARS	833	broad.mit.edu	37	chr11	3028112	3028112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcaagggctcacccaccttCgtggtcttcaaaccgcaccc	9	7	8	17	2	3	0	2	0	1	0	4	0	3	0	4	2	2	3	4	2	2	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:3028112C>T	ENST00000397114.3	-	19	2243	c.1867G>A	c.(1867-1869)Gaa>Aaa	p.E623K	CARS_ENST00000401769.3_Missense_Mutation_p.E646K|CARS_ENST00000397111.5_Missense_Mutation_p.E633K|CARS_ENST00000380525.4_Missense_Mutation_p.E716K|CARS_ENST00000278224.9_Missense_Mutation_p.E633K|CARS_ENST00000470221.2_5'UTR			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	633					cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	CACCCACCTTCGTGGTCTTCA	0.582			T	ALK	ALCL								7	136					0	0	1	0	0	T	3028112	C	T	3028112	3	4	79	1	0	0	0	0	1	0	0	0	2675	893	31	1	377	1	CARS	11	3028112	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	1449504	3028112	131978404	246	4267											
OSBPL5	114879	broad.mit.edu	37	chr11	3122887	3122887	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgcagaagccgtccttccGgttgctgacgtggaaggcag	8	8	15	10	3	0	2	0	1	0	1	2	4	2	3	3	3	3	4	3	3	2	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:3122887G>A	ENST00000263650.7	-	13	1627	c.1468C>T	c.(1468-1470)Cgg>Tgg	p.R490W	OSBPL5_ENST00000389989.3_Missense_Mutation_p.R422W|OSBPL5_ENST00000525498.1_Missense_Mutation_p.R401W|OSBPL5_ENST00000348039.5_Missense_Mutation_p.R422W|OSBPL5_ENST00000542243.1_Missense_Mutation_p.R121W	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	490					cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CCGTCCTTCCGGTTGCTGACG	0.632													10	22					0	0	1	0	0	A	3122887	G	A	3122887	3	1	79	1	0	0	0	0	1	0	0	0	11327	1115	39	1	1211	1	OSBPL5	11	3122887	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	94775	3122887	131883629	247	4268											
DNHD1	144132	broad.mit.edu	37	chr11	6592024	6592024	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccgtgtgggttcctgagTctcgaagaggcgcccagctt	6	9	13	13	3	1	2	0	1	1	1	3	3	2	2	3	2	1	2	3	2	1	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:6592024T>A	ENST00000254579.6	+	42	13846	c.13282T>A	c.(13282-13284)Tct>Act	p.S4428T	DNHD1_ENST00000527990.2_Missense_Mutation_p.S4428T	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4428					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GGTTCCTGAGTCTCGAAGAGG	0.637													12	18					0	0	1	0	0	A	6592024	T	A	6592024	3	1	79	1	0	0	0	0	1	0	0	0	4695	1667	58	5	13449	5	DNHD1	11	6592024	Missense_Mutation	SNP	T	TCGA-EJ-7782-01A-11D-2114-08	3469137	6592024	128414492	248	4269											
SWAP70	23075	broad.mit.edu	37	chr11	9749627	9749627	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgaaaaagggccacagaCggaaaaactggactgaaaga	19	4	12	6	1	0	5	0	3	0	2	0	7	0	7	1	3	1	0	1	3	5	0			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:9749627C>T	ENST00000318950.6	+	5	773	c.670C>T	c.(670-672)Cgg>Tgg	p.R224W	SWAP70_ENST00000447399.2_Missense_Mutation_p.R166W	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN	SWAP switching B-cell complex 70kDa subunit	224	PH.					cytoplasm|lamellipodium|nucleus|plasma membrane	calcium ion binding|DNA binding			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		GGGCCACAGACGGAAAAACTG	0.348													5	55					0	0	1	0	0	T	9749627	C	T	9749627	3	4	79	1	0	0	0	0	1	0	0	0	15481	527	19	1	688	1	SWAP70	11	9749627	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	3157603	9749627	125256889	249	4270											
COPB1	1315	broad.mit.edu	37	chr11	14491076	14491076	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttcccaaatgcaggatagTagccatgagcaacatagcct	13	10	8	10	0	0	1	0	1	0	0	1	2	1	2	3	1	5	3	3	1	5	5			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:14491076T>C	ENST00000249923.3	-	15	2071	c.1771A>G	c.(1771-1773)Act>Gct	p.T591A	COPB1_ENST00000439561.2_Missense_Mutation_p.T591A	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	591					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						TGCAGGATAGTAGCCATGAGC	0.398													5	52					0	0	1	0	0	C	14491076	T	C	14491076	3	2	79	1	0	0	0	0	1	0	0	0	3751	1638	57	3	1122	3	COPB1	11	14491076	Missense_Mutation	SNP	T	TCGA-EJ-7782-01A-11D-2114-08	4741449	14491076	120515440	250	4271											
ABCC8	6833	broad.mit.edu	37	chr11	17428224	17428224	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcggtgcagtctcttggccaCcttcagccctgtccactcca	5	10	9	17	1	2	0	1	0	1	0	5	0	4	0	5	2	2	1	5	2	0	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:17428224C>T	ENST00000302539.4	-	26	3402	c.3277G>A	c.(3277-3279)Gtg>Atg	p.V1093M	ABCC8_ENST00000389817.3_Missense_Mutation_p.V1092M	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1092	ABC transmembrane type-1 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CTCTTGGCCACCTTCAGCCCT	0.607													13	38					0	0	1	0	0	T	17428224	C	T	17428224	3	4	79	1	0	0	0	0	1	0	0	0	58	507	18	2	1527	2	ABCC8	11	17428224	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	2937148	17428224	117578292	251	4272											
KCNC1	3746	broad.mit.edu	37	chr11	17793341	17793341	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcgcaatggcacgcaagtgCgctactaccgggaggccgag	9	6	14	12	5	0	0	0	0	0	0	1	2	0	1	2	3	3	4	2	3	4	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:17793341C>T	ENST00000379472.3	+	2	730	c.700C>T	c.(700-702)Cgc>Tgc	p.R234C	KCNC1_ENST00000265969.6_Missense_Mutation_p.R234C	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	234						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R234C(1)		breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						CACGCAAGTGCGCTACTACCG	0.582													23	83					0	0	1	0	0	T	17793341	C	T	17793341	3	4	79	1	0	0	0	0	1	0	0	0	8058	768	27	1	706	1	KCNC1	11	17793341	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	365117	17793341	117213175	252	4273											
OR5F1	338674	broad.mit.edu	37	chr11	55762087	55762088	+	Frame_Shift_Ins	INS	-	-	T																															actcagtcagtgaggtataaINSttttttctggtcatttatga																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:55762087_55762088insT	ENST00000278409.1	-	1	13_14	c.14_15insA	c.(13-15)atafs	p.I5fs		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	5					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					GTGAGGTATAATTTTTTCTGGT	0.307													16	44	---	---	---	---						T	55762088	-	T	55762087	7	5	79	1	0	1	1	0	0	0	0	0	11205	98	4	0	932	0	OR5F1	11	55762087	Frame_Shift_Ins	INS	-	TCGA-EJ-7782-01A-11D-2114-08	37968746	55762087	79244429	253	4274											
OR8J1	219477	broad.mit.edu	37	chr11	56128471	56128471	+	Frame_Shift_Del	DEL	T	T	-																															acatatgatggcagtcacaaTtttttatgggacattgctat																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:56128471delT	ENST00000303039.3	+	1	781	c.749delT	c.(748-750)atfs	p.I250fs		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					GCAGTCACAATTTTTTATGGG	0.348													8	113	---	---	---	---						-	56128471	T	-	56128471	7	5	79	1	0	1	0	1	0	0	0	0	11288	1493	52	0	751	0	OR8J1	11	56128471	Frame_Shift_Del	DEL	T	TCGA-EJ-7782-01A-11D-2114-08	366384	56128471	78878045	254	4275											
OR5M11	219487	broad.mit.edu	37	chr11	56310191	56310191	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagaaagcttaatgagcggCgggtcagcacagtagaagtg	14	6	14	7	2	1	3	1	1	0	2	1	3	1	3	0	2	3	3	0	2	5	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:56310191C>T	ENST00000528616.2	-	1	566	c.543G>A	c.(541-543)ccG>ccA	p.P181P		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						TAATGAGCGGCGGGTCAGCAC	0.498													6	32					0	0	1	0	0	T	56310191	C	T	56310191	2	4	79	1	0	0	0	0	0	0	0	1	11221	755	27	1		1	OR5M11	11	56310191	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	181720	56310191	78696325	255	4276											
MPEG1	219972	broad.mit.edu	37	chr11	58979029	58979029	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agacgaggagagtgcactttCgatgacactccaggtggttg	10	9	14	8	2	0	3	0	1	0	2	2	6	1	3	1	3	1	2	1	3	0	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:58979029C>T	ENST00000361050.3	-	1	1395	c.1310G>A	c.(1309-1311)cGa>cAa	p.R437Q		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	437						integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				AGTGCACTTTCGATGACACTC	0.532													5	83					0	0	1	0	0	T	58979029	C	T	58979029	3	4	79	1	0	0	0	0	1	0	0	0	9772	884	31	1	844	1	MPEG1	11	58979029	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	2668838	58979029	76027487	256	4277											
DAGLA	747	broad.mit.edu	37	chr11	61495643	61495643	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatgcctactcagaaatcGcctacctctttgcggagttc	9	11	9	12	2	2	1	1	0	1	1	4	3	2	3	3	2	4	1	3	2	3	4			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:61495643G>A	ENST00000257215.5	+	7	771	c.655G>A	c.(655-657)Gcc>Acc	p.A219T		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	219					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CTCAGAAATCGCCTACCTCTT	0.617													5	77					0	0	1	0	0	A	61495643	G	A	61495643	3	1	79	1	0	0	0	0	1	0	0	0	4250	1087	38	1	677	1	DAGLA	11	61495643	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	2516614	61495643	73510873	257	4278											
AHNAK	79026	broad.mit.edu	37	chr11	62301277	62301277	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccgagggcagtctgatcacGgtcttcccagactgggtctc	6	9	12	14	2	4	2	1	1	3	1	6	3	5	2	2	3	0	1	2	3	0	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:62301277G>A	ENST00000378024.4	-	5	886	c.612C>T	c.(610-612)acC>acT	p.T204T	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	204					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GTCTGATCACGGTCTTCCCAG	0.542													15	49					0	0	1	0	0	A	62301277	G	A	62301277	2	1	79	1	0	0	0	0	0	0	0	1	411	1103	39	1		1	AHNAK	11	62301277	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	805634	62301277	72705239	258	4279											
CDC42BPG	55561	broad.mit.edu	37	chr11	64606680	64606680	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggggagatatagtccggcGtccctactgccactgatgaa	10	8	12	11	2	0	3	0	2	0	1	2	4	2	3	3	3	2	0	3	3	4	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:64606680G>A	ENST00000342711.5	-	7	700	c.701C>T	c.(700-702)aCg>aTg	p.T234M		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	234	Protein kinase.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						ATAGTCCGGCGTCCCTACTGC	0.617													6	41					0	0	1	0	0	A	64606680	G	A	64606680	3	1	79	1	0	0	0	0	1	0	0	0	3096	1145	40	1	4078	1	CDC42BPG	11	64606680	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	2305403	64606680	70399836	259	4280											
LTBP3	4054	broad.mit.edu	37	chr11	65307998	65307998	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgtcgtagtagaagccctgcTtgcagtagcactcgtagcca	9	9	11	12	3	0	1	0	0	0	1	2	1	0	1	2	0	5	7	2	0	5	5			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:65307998T>C	ENST00000301873.5	-	22	3333	c.3065A>G	c.(3064-3066)aAg>aGg	p.K1022R	LTBP3_ENST00000530785.1_Missense_Mutation_p.K25R|LTBP3_ENST00000529189.1_Missense_Mutation_p.K25R|LTBP3_ENST00000532932.1_Missense_Mutation_p.K452R|LTBP3_ENST00000536982.1_Missense_Mutation_p.K648R|LTBP3_ENST00000322147.4_Missense_Mutation_p.K1022R	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	1022	EGF-like 10; calcium-binding (Potential).					extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						GAAGCCCTGCTTGCAGTAGCA	0.652											OREG0021080	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	39					0	0	1	0	0	C	65307998	T	C	65307998	3	2	79	1	0	0	0	0	1	0	0	0	9120	1609	56	3	874	3	LTBP3	11	65307998	Missense_Mutation	SNP	T	TCGA-EJ-7782-01A-11D-2114-08	701318	65307998	69698518	260	4281											
MAP3K11	4296	broad.mit.edu	37	chr11	65365835	65365835	+	Frame_Shift_Del	DEL	C	C	-																															gtgccctgcagtcctgggggCccccctggaaggggttggca																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:65365835delC	ENST00000309100.3	-	10	2956	c.2471delG	c.(2470-2472)gcfs	p.G824fs	MAP3K11_ENST00000532507.1_Frame_Shift_Del_p.G240fs|MAP3K11_ENST00000530153.1_Frame_Shift_Del_p.G567fs	NM_002419.3	NP_002410.1	Q16584	M3K11_HUMAN	mitogen-activated protein kinase kinase kinase 11	824	Pro-rich.				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						GTCCTGGGGGCCCCCCTGGAA	0.701													8	11	---	---	---	---						-	65365835	C	-	65365835	7	5	79	1	0	1	0	1	0	0	0	0	9295	739	26	0	76	0	MAP3K11	11	65365835	Frame_Shift_Del	DEL	C	TCGA-EJ-7782-01A-11D-2114-08	57837	65365835	69640681	261	4282											
SNX32	254122	broad.mit.edu	37	chr11	65620113	65620113	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcctaggacctgctgtacCggcggctgcgggcactggcc	4	7	16	14	3	0	0	0	0	0	0	1	1	1	1	4	6	3	4	4	6	2	2	rs140929894		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:65620113C>T	ENST00000308342.6	+	11	1350	c.925C>T	c.(925-927)Cgg>Tgg	p.R309W		NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN	sorting nexin 32	309					cell communication|protein transport		phosphatidylinositol binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		CCTGCTGTACCGGCGGCTGCG	0.697													8	16					0	0	1	0	0	T	65620113	C	T	65620113	3	4	79	1	0	0	0	0	1	0	0	0	14956	643	23	1	967	1	SNX32	11	65620113	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	254278	65620113	69386403	262	4283											
YIF1A	10897	broad.mit.edu	37	chr11	66055105	66055105	+	Frame_Shift_Del	DEL	G	G	-																															aggggcgttgaggtcttgccGggggggcagaggagcatcac																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:66055105delG	ENST00000376901.4	-	4	575	c.391delC	c.(391-393)ggfs	p.R131fs	YIF1A_ENST00000359461.6_Frame_Shift_Del_p.R131fs|YIF1A_ENST00000471387.2_5'UTR	NM_020470.2	NP_065203.2	O95070	YIF1A_HUMAN	Yip1 interacting factor homolog A (S. cerevisiae)	131					protein transport|vesicle-mediated transport	centrosome|endoplasmic reticulum membrane|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	9						AGGTCTTGCCGGGGGGGCAGA	0.622													10	45	---	---	---	---						-	66055105	G	-	66055105	7	5	79	1	0	1	0	1	0	0	0	0	17535	1115	39	0	510	0	YIF1A	11	66055105	Frame_Shift_Del	DEL	G	TCGA-EJ-7782-01A-11D-2114-08	434992	66055105	68951411	263	4284											
MTL5	9633	broad.mit.edu	37	chr11	68506190	68506190	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agccaaagttatttttggtgGtcctggaagagttgatcccg	9	13	12	7	1	0	2	0	1	0	1	2	3	2	3	3	3	1	2	3	3	3	4			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:68506190G>A	ENST00000255087.5	-	6	1078	c.895C>T	c.(895-897)Cca>Tca	p.P299S	MTL5_ENST00000540869.1_5'UTR|MTL5_ENST00000443940.2_3'UTR|MTL5_ENST00000544963.1_Missense_Mutation_p.P299S	NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	299					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			ATTTTTGGTGGTCCTGGAAGA	0.413													4	37					0	0	1	0	0	A	68506190	G	A	68506190	3	1	79	1	0	0	0	0	1	0	0	0	9984	1261	44	2	655	2	MTL5	11	68506190	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	2451085	68506190	66500326	264	4285											
ANO1	55107	broad.mit.edu	37	chr11	70031720	70031720	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagactaccgagagccgccGtggtcggaaaacaagtacga	15	4	12	10	5	0	2	0	0	0	2	1	5	0	3	3	2	4	1	3	2	6	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:70031720G>A	ENST00000355303.5	+	25	2918	c.2613G>A	c.(2611-2613)ccG>ccA	p.P871P	ANO1_ENST00000398543.2_Silent_p.P725P|ANO1_ENST00000531349.1_Silent_p.P580P|ANO1_ENST00000530676.1_Silent_p.P725P|ANO1_ENST00000525494.1_3'UTR|ANO1_ENST00000538023.1_Silent_p.P871P	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	871					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						GAGAGCCGCCGTGGTCGGAAA	0.607													11	34					0	0	1	0	0	A	70031720	G	A	70031720	2	1	79	1	0	0	0	0	0	0	0	1	689	1132	40	1		1	ANO1	11	70031720	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	1525530	70031720	64974796	265	4286											
SHANK2	22941	broad.mit.edu	37	chr11	70331617	70331617	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccttggctggagaaccttgGccatcccaggctgggcactg	6	9	13	13	0	0	1	0	0	0	1	2	2	2	1	4	5	1	3	4	5	1	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:70331617G>A	ENST00000338508.4	-	32	4783	c.4784C>T	c.(4783-4785)gCc>gTc	p.A1595V	SHANK2_ENST00000449833.2_Missense_Mutation_p.A999V|SHANK2_ENST00000423696.2_Missense_Mutation_p.A1215V|SHANK2_ENST00000409161.1_Missense_Mutation_p.A998V			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1215					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GAGAACCTTGGCCATCCCAGG	0.577													4	55					0	0	1	0	0	A	70331617	G	A	70331617	3	1	79	1	0	0	0	0	1	0	0	0	14320	1203	42	2	776	2	SHANK2	11	70331617	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	299897	70331617	64674899	266	4287											
TAF1D	79101	broad.mit.edu	37	chr11	93471453	93471453	+	Frame_Shift_Del	DEL	T	T	-																															gctggtacctcctctttttcTtttttttatatctctttttc																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:93471453delT	ENST00000448108.2	-	3	931	c.281delA	c.(280-282)agfs	p.K96fs		NM_024116.3	NP_077021.1	Q9H5J8	TAF1D_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa	96					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			large_intestine(1)|lung(3)|prostate(1)|skin(2)	7						CCTCTTTTTCTTTTTTTTATA	0.348													7	107	---	---	---	---						-	93471453	T	-	93471453	7	5	79	1	0	1	0	1	0	0	0	0	15579	1609	56	0	571	0	TAF1D	11	93471453	Frame_Shift_Del	DEL	T	TCGA-EJ-7782-01A-11D-2114-08	23139836	93471453	41535063	267	4288											
MMP12	4321	broad.mit.edu	37	chr11	102743846	102743847	+	RNA	INS	-	-	A																															atttttctaagtatctctggINSaaaaaaaaatacattcagca																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr11:102743846_102743847insA	ENST00000532855.1	-	0	199							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	AGTATCTCTGGAAAAAAAAATA	0.332													8	10	---	---	---	---						A	102743847	-	A	102743846	6	5	79	0	1	1	1	0	0	0	0	0	9699	1189	41	0		0	MMP12	11	102743846	RNA	INS	-	TCGA-EJ-7782-01A-11D-2114-08	9272393	102743846	32262670	268	4289											
NPAT	4863	broad.mit.edu	37	chr11	108068119	108068119	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaataaaagtctggcaggtAgaaatgaggttttcttgctg	14	12	11	4	0	2	2	0	1	2	1	2	2	2	2	0	3	1	4	0	3	6	5			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:108068119A>G	ENST00000278612.8	-	2	171	c.66T>C	c.(64-66)tcT>tcC	p.S22S		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	22	Interaction with MIZF.|LisH.|Required for activation of histone gene transcription and interaction with MIZF.			S -> Y (in Ref. 6; AAB02735).	positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TCTGGCAGGTAGAAATGAGGT	0.308													12	65					0	0	1	0	0	G	108068119	A	G	108068119	2	3	79	1	0	0	0	0	0	0	0	1	10613	407	15	3		3	NPAT	11	108068119	Silent	SNP	A	TCGA-EJ-7782-01A-11D-2114-08	5324273	108068119	26938397	269	4290											
PRDM10	56980	broad.mit.edu	37	chr11	129800950	129800950	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcatgtcgtcggctgtcagCgtgctctgggtgggcaccac	4	9	15	13	4	2	0	1	0	1	0	4	0	2	0	1	3	2	4	1	3	0	0			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr11:129800950C>T	ENST00000358825.5	-	11	1722	c.1491G>A	c.(1489-1491)acG>acA	p.T497T	PRDM10_ENST00000360871.3_Silent_p.T497T|PRDM10_ENST00000528746.1_Silent_p.T471T|PRDM10_ENST00000423662.2_Silent_p.T411T|PRDM10_ENST00000526082.1_Silent_p.T411T|PRDM10_ENST00000304538.6_Silent_p.T411T	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	497					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CGGCTGTCAGCGTGCTCTGGG	0.622													14	56					0	0	1	0	0	T	129800950	C	T	129800950	2	4	79	1	0	0	0	0	0	0	0	1	12503	755	27	1		1	PRDM10	11	129800950	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	21732831	129800950	5205566	270	4291											
SLC6A13	6540	broad.mit.edu	37	chr12	346452	346452	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagagatcttcaagacccGccgcctggggagagaagggt	11	6	14	10	2	3	3	2	0	1	3	3	6	3	4	3	3	0	0	3	3	2	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:346452G>A	ENST00000343164.4	-	6	620	c.568C>T	c.(568-570)Cgg>Tgg	p.R190W	SLC6A13_ENST00000445055.2_Missense_Mutation_p.R98W	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	190					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			TTCAAGACCCGCCGCCTGGGG	0.617													18	39					0	0	1	0	0	A	346452	G	A	346452	3	1	79	1	0	0	0	0	1	0	0	0	14731	1086	38	1	1280	1	SLC6A13	12	346452	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08		346452	133505443	271	4292											
DYRK4	8798	broad.mit.edu	37	chr12	4705340	4705340	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcatgatcacattgcctaccGctatgaagttctggagacaa	12	10	9	10	1	2	3	1	2	1	1	2	4	2	3	2	1	2	3	2	1	4	4			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:4705340G>A	ENST00000540757.2	+	5	468	c.308G>A	c.(307-309)cGc>cAc	p.R103H	DYRK4_ENST00000010132.5_Missense_Mutation_p.R103H|DYRK4_ENST00000543431.1_Missense_Mutation_p.R103H	NM_003845.1	NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	103						Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			ATTGCCTACCGCTATGAAGTT	0.552													13	99					0	0	1	0	0	A	4705340	G	A	4705340	3	1	79	1	0	0	0	0	1	0	0	0	4884	1087	38	1	318	1	DYRK4	12	4705340	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	4358888	4705340	129146555	272	4293											
VWF	7450	broad.mit.edu	37	chr12	6135163	6135163	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggttgctgctggtgaggTcattgttctggatgccatca	6	13	15	7	0	3	1	2	1	1	0	3	3	3	3	1	5	3	4	1	5	0	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:6135163T>A	ENST00000261405.5	-	23	3271	c.3017A>T	c.(3016-3018)gAc>gTc	p.D1006V		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	1006	VWFD 3.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GCTGGTGAGGTCATTGTTCTG	0.527													15	47					0	0	1	0	0	A	6135163	T	A	6135163	3	1	79	1	0	0	0	0	1	0	0	0	17306	1667	58	5	5544	5	VWF	12	6135163	Missense_Mutation	SNP	T	TCGA-EJ-7782-01A-11D-2114-08	1429823	6135163	127716732	273	4294											
PPFIBP1	8496	broad.mit.edu	37	chr12	27829391	27829391	+	Frame_Shift_Del	DEL	G	G	-																															cggcagaaagcaggccatttGggacccttcctcccaggccc																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:27829391delG	ENST00000318304.8	+	18	1775	c.1492delG	c.(1492-1494)ggfs	p.G498fs	PPFIBP1_ENST00000228425.6_Frame_Shift_Del_p.G481fs|PPFIBP1_ENST00000537927.1_Frame_Shift_Del_p.G345fs|PPFIBP1_ENST00000542629.1_Frame_Shift_Del_p.G467fs	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	498					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					CAGGCCATTTGGGACCCTTCC	0.552													22	55	---	---	---	---						-	27829391	G	-	27829391	7	5	79	1	0	1	0	1	0	0	0	0	12358	1348	47	0	1545	0	PPFIBP1	12	27829391	Frame_Shift_Del	DEL	G	TCGA-EJ-7782-01A-11D-2114-08	21694228	27829391	106022504	274	4295											
PPFIBP1	8496	broad.mit.edu	37	chr12	27832572	27832572	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatcatgaaactctttggaaAgtaagtaaagcagtaaacaa	19	10	7	5	0	2	1	1	1	1	0	2	2	2	2	0	1	3	4	0	1	9	5			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:27832572A>G	ENST00000318304.8	+	19	2067	c.1784_splice	c.e19+1	p.K595_splice	PPFIBP1_ENST00000542629.1_Splice_Site_p.K564_splice|PPFIBP1_ENST00000537927.1_Splice_Site_p.K442_splice|PPFIBP1_ENST00000228425.6_Splice_Site_p.K589_splice	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	595					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					CTCTTTGGAAAGTAAGTAAAG	0.438													9	68					0	0	1	0	0	G	27832572	A	G	27832572	5	3	79	1	0	0	0	0	0	0	1	0	12358	86	3	3	1878	3	PPFIBP1	12	27832572	Splice_Site	SNP	A	TCGA-EJ-7782-01A-11D-2114-08	3181	27832572	106019323	275	4296											
PPHLN1	51535	broad.mit.edu	37	chr12	42778750	42778750	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctttccatagagtccgtgCgtcctggtgcctcctacaaa	8	11	8	14	2	0	1	0	0	0	1	4	1	4	1	6	1	3	0	6	1	3	3	rs144485658		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:42778750C>T	ENST00000432191.2	+	5	427	c.355C>T	c.(355-357)Cgt>Tgt	p.R119C	PPHLN1_ENST00000395580.3_Missense_Mutation_p.R181C|PPHLN1_ENST00000552761.1_Missense_Mutation_p.R126C|PPHLN1_ENST00000337898.6_Missense_Mutation_p.R119C|PPHLN1_ENST00000449194.2_Intron|PPHLN1_ENST00000549190.1_Missense_Mutation_p.R192C|PPHLN1_ENST00000358314.7_Missense_Mutation_p.R174C|PPHLN1_ENST00000395568.2_Missense_Mutation_p.R174C|PPHLN1_ENST00000317560.9_Intron|PPHLN1_ENST00000256678.8_Intron	NM_001143787.1	NP_001137259.1	Q8NEY8	PPHLN_HUMAN	periphilin 1	174					keratinization	cytoplasm|nucleus		p.R174C(2)		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)		AGAGTCCGTGCGTCCTGGTGC	0.498													12	30					0	0	1	0	0	T	42778750	C	T	42778750	3	4	79	1	0	0	0	0	1	0	0	0	12360	768	27	1	563	1	PPHLN1	12	42778750	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	14946178	42778750	91073145	276	4297											
ARID2	196528	broad.mit.edu	37	chr12	46123836	46123837	+	Frame_Shift_Ins	INS	-	-	A																															tctcccgcaggtcgccttttINSaaaaaaatccctgcggtggg																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:46123836_46123837insA	ENST00000334344.6	+	2	274_275	c.102_103insA	c.(100-105)ttaaaafs	p.LK34fs	ARID2_ENST00000422737.1_5'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	34	ARID.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GGTCGCCTTTTAAAAAAATCCC	0.624			"N, S, F"		hepatocellular carcinoma								7	8	---	---	---	---						A	46123837	-	A	46123836	7	5	79	1	0	1	1	0	0	0	0	0	912	1751	61	0	108	0	ARID2	12	46123836	Frame_Shift_Ins	INS	-	TCGA-EJ-7782-01A-11D-2114-08	3345086	46123836	87728059	277	4298											
ADCY6	112	broad.mit.edu	37	chr12	49169815	49169815	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggaacccagcgcggcatcagCccttccatggagttggcccg	7	6	13	15	3	1	0	1	0	0	0	2	2	2	2	4	4	3	2	4	4	1	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:49169815C>T	ENST00000307885.4	-	8	2431	c.1737G>A	c.(1735-1737)ggG>ggA	p.G579G	ADCY6_ENST00000357869.3_Silent_p.G579G|ADCY6_ENST00000550422.1_Silent_p.G579G|ADCY6_ENST00000552090.1_5'UTR	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	579					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						GCGGCATCAGCCCTTCCATGG	0.647													8	13					0	0	1	0	0	T	49169815	C	T	49169815	2	4	79	1	0	0	0	0	0	0	0	1	297	726	26	2		2	ADCY6	12	49169815	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	3045979	49169815	84682080	278	4299											
RACGAP1	29127	broad.mit.edu	37	chr12	50400278	50400278	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctctacatccacctgattaCgtgcatgcttcagcttaaca	10	13	5	13	1	2	1	1	1	1	0	4	1	3	1	2	0	6	3	2	0	3	4			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:50400278C>T	ENST00000434422.1	-	4	528	c.227G>A	c.(226-228)cGt>cAt	p.R76H	RACGAP1_ENST00000427314.2_Missense_Mutation_p.R76H|RACGAP1_ENST00000551016.1_Missense_Mutation_p.R76H|RACGAP1_ENST00000454520.2_Missense_Mutation_p.R76H|RACGAP1_ENST00000312377.5_Missense_Mutation_p.R76H|RACGAP1_ENST00000547905.1_Missense_Mutation_p.R76H			Q9H0H5	RGAP1_HUMAN	Rac GTPase activating protein 1	76					blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						CACCTGATTACGTGCATGCTT	0.478													37	61					0	0	1	0	0	T	50400278	C	T	50400278	3	4	79	1	0	0	0	0	1	0	0	0	13029	536	19	1	1731	1	RACGAP1	12	50400278	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	1230463	50400278	83451617	279	4300											
SCN8A	6334	broad.mit.edu	37	chr12	52156425	52156425	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaactgagtctagcagacGtggaggggctttcagtgctg	8	10	16	7	1	2	2	1	1	1	1	2	4	2	4	0	4	3	3	0	4	2	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:52156425G>A	ENST00000354534.5	+	15	2687	c.2509G>A	c.(2509-2511)Gtg>Atg	p.V837M	SCN8A_ENST00000550891.1_Missense_Mutation_p.V837M|SCN8A_ENST00000545061.1_Missense_Mutation_p.V837M	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	837					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	TCTAGCAGACGTGGAGGGGCT	0.413													19	56					0	0	1	0	0	A	52156425	G	A	52156425	3	1	79	1	0	0	0	0	1	0	0	0	13978	1145	40	1	2563	1	SCN8A	12	52156425	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	1756147	52156425	81695470	280	4301											
ESYT1	23344	broad.mit.edu	37	chr12	56532267	56532267	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctatccatctatatggagcGggcagaggacctcccggtga	9	8	13	11	2	1	2	0	1	1	1	3	4	3	4	3	4	1	2	3	4	3	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:56532267G>A	ENST00000394048.5	+	22	2681	c.2417G>A	c.(2416-2418)cGg>cAg	p.R806Q	ESYT1_ENST00000267113.4_Missense_Mutation_p.R816Q|ESYT1_ENST00000550878.1_3'UTR|ESYT1_ENST00000541590.1_Missense_Mutation_p.R816Q	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	806	C2 4.					integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						TATATGGAGCGGGCAGAGGAC	0.587													4	21					0	0	1	0	0	A	56532267	G	A	56532267	3	1	79	1	0	0	0	0	1	0	0	0	5292	1116	39	1	2533	1	ESYT1	12	56532267	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	4375842	56532267	77319628	281	4302											
CNPY2	10330	broad.mit.edu	37	chr12	56705008	56705008	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agctcaccgcaaacttgaggGtgccgctaatatctgagtcg	10	9	11	11	3	2	2	1	2	1	0	3	2	2	2	2	1	3	3	2	1	3	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:56705008G>T	ENST00000273308.4	-	4	935	c.395C>A	c.(394-396)aCc>aAc	p.T132N	RP11-977G19.11_ENST00000549860.1_RNA|RP11-977G19.10_ENST00000549318.1_Missense_Mutation_p.T132N|RP11-977G19.11_ENST00000549565.1_RNA	NM_014255.5	NP_055070.1	Q9Y2B0	CNPY2_HUMAN	canopy FGF signaling regulator 2	132	Saposin B-type.					endoplasmic reticulum|integral to plasma membrane	protein binding			large_intestine(2)|lung(2)	4						AAACTTGAGGGTGCCGCTAAT	0.493													51	90					1.00221e-16	1.08824e-16	1	1	0	T	56705008	G	T	56705008	3	4	79	1	0	0	0	0	1	0	0	0	3651	1261	44	4	165	4	CNPY2	12	56705008	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	172741	56705008	77146887	282	4303											
TIMELESS	8914	broad.mit.edu	37	chr12	56815747	56815747	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtggatgatctgcttgcGtgttcgaggaacagtattca	9	13	13	6	2	2	1	1	1	1	0	3	4	2	3	0	3	3	3	0	3	2	4			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:56815747G>A	ENST00000229201.4	-	21	2729	c.2575C>T	c.(2575-2577)Cgc>Tgc	p.R859C	TIMELESS_ENST00000553532.1_Missense_Mutation_p.R860C|TIMELESS_ENST00000554616.1_Missense_Mutation_p.R357C	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	860					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						ATCTGCTTGCGTGTTCGAGGA	0.542													6	85					0	0	1	0	0	A	56815747	G	A	56815747	3	1	79	1	0	0	0	0	1	0	0	0	15964	1145	40	1	1084	1	TIMELESS	12	56815747	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	110739	56815747	77036148	283	4304											
STAT6	6778	broad.mit.edu	37	chr12	57499054	57499054	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acctcaagcccaacaggaatCgaactccagcctggaacttg	13	6	8	14	1	1	0	1	0	0	0	3	3	2	2	4	2	5	0	4	2	5	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:57499054C>T	ENST00000300134.3	-	9	1206	c.881G>A	c.(880-882)cGa>cAa	p.R294Q	STAT6_ENST00000556155.1_Missense_Mutation_p.R294Q|STAT6_ENST00000454075.3_Missense_Mutation_p.R294Q|STAT6_ENST00000537215.2_Missense_Mutation_p.R184Q|STAT6_ENST00000543873.2_Missense_Mutation_p.R294Q|STAT6_ENST00000538913.2_Missense_Mutation_p.R184Q	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	294					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						CAACAGGAATCGAACTCCAGC	0.622													10	33					0	0	1	0	0	T	57499054	C	T	57499054	3	4	79	1	0	0	0	0	1	0	0	0	15326	884	31	1	1718	1	STAT6	12	57499054	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	683307	57499054	76352841	284	4305											
SLC16A7	9194	broad.mit.edu	37	chr12	60098741	60098741	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attcagcaaatattccacacTacctacagtgaaatagcatg	16	10	5	10	0	1	1	1	1	0	0	2	1	2	1	2	0	4	2	2	0	6	6			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:60098741T>C	ENST00000261187.4	+	2	323	c.159T>C	c.(157-159)acT>acC	p.T53T	SLC16A7_ENST00000552024.1_Silent_p.T53T|SLC16A7_ENST00000549588.1_3'UTR|SLC16A7_ENST00000547379.1_Silent_p.T53T|SLC16A7_ENST00000552432.1_Silent_p.T53T|SLC16A7_ENST00000549465.1_Silent_p.T53T|SLC16A7_ENST00000543448.1_5'UTR	NM_001270622.1|NM_001270623.1|NM_004731.3	NP_001257551.1|NP_001257552.1|NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	53						integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	TATTCCACACTACCTACAGTG	0.383													24	46					0	0	1	0	0	C	60098741	T	C	60098741	2	2	79	1	0	0	0	0	0	0	0	1	14468	1509	53	3		3	SLC16A7	12	60098741	Silent	SNP	T	TCGA-EJ-7782-01A-11D-2114-08	2599687	60098741	73753154	285	4306											
SRGAP1	57522	broad.mit.edu	37	chr12	64377821	64377821	+	Frame_Shift_Del	DEL	A	A	-																															gatctgcaagatttcttccgAaaaaaagctgaaattgagac																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:64377821delA	ENST00000355086.3	+	2	686	c.162delA	c.(160-162)cgfs	p.R54fs	SRGAP1_ENST00000357825.3_Frame_Shift_Del_p.R54fs|SRGAP1_ENST00000543397.1_Frame_Shift_Del_p.R14fs	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	54	FCH.				axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		ATTTCTTCCGAAAAAAAGCTG	0.418													18	65	---	---	---	---						-	64377821	A	-	64377821	7	5	79	1	0	1	0	1	0	0	0	0	15201	233	9	0	168	0	SRGAP1	12	64377821	Frame_Shift_Del	DEL	A	TCGA-EJ-7782-01A-11D-2114-08	4279080	64377821	69474074	286	4307											
ZFC3H1	196441	broad.mit.edu	37	chr12	72013161	72013161	+	Frame_Shift_Del	DEL	A	A	-																															aggatgcaataaatttccgcAaaaatggaagaagattatcg																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:72013161delA	ENST00000378743.3	-	27	5436	c.5078delT	c.(5077-5079)tgfs	p.L1693fs		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1693					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						AAATTTCCGCAAAAATGGAAG	0.348													15	21	---	---	---	---						-	72013161	A	-	72013161	7	5	79	1	0	1	0	1	0	0	0	0	17691	131	5	0	927	0	ZFC3H1	12	72013161	Frame_Shift_Del	DEL	A	TCGA-EJ-7782-01A-11D-2114-08	7635340	72013161	61838734	287	4308											
HCFC2	29915	broad.mit.edu	37	chr12	104474531	104474531	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttacttttagaaactatGtcatggtcaaaaccagaaac	15	14	5	7	0	2	2	2	0	0	2	2	2	2	2	1	1	4	0	1	1	7	6			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:104474531G>C	ENST00000229330.4	+	5	794	c.690G>C	c.(688-690)atG>atC	p.M230I		NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	230					regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TAGAAACTATGTCATGGTCAA	0.323													15	17					0	0	1	0	0	C	104474531	G	C	104474531	3	2	79	1	0	0	0	0	1	0	0	0	7034	1377	48	4	708	4	HCFC2	12	104474531	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	32461370	104474531	29377364	288	4309											
ALKBH2	121642	broad.mit.edu	37	chr12	109526137	109526137	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatcattagtaagctcccGtgggccagcggcagcctgac	8	9	11	13	2	2	1	2	1	0	0	3	1	3	1	3	2	3	3	3	2	2	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:109526137G>A	ENST00000440112.2	-	2	463	c.461C>T	c.(460-462)aCg>aTg	p.T154M	ALKBH2_ENST00000343075.3_Silent_p.H220H|ALKBH2_ENST00000429722.2_Silent_p.H220H	NM_001205179.1|NM_001205180.1	NP_001192108.1|NP_001192109.1	Q6NS38	ALKB2_HUMAN	alkB, alkylation repair homolog 2 (E. coli)	0	Fe2OG dioxygenase.				DNA dealkylation involved in DNA repair|oxidative DNA demethylation	nucleoplasm	cytosine C-5 DNA demethylase activity|damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(3)|large_intestine(1)|lung(3)	8					Vitamin C(DB00126)	GTAAGCTCCCGTGGGCCAGCG	0.577								Direct reversal of damage					29	69					0	0	1	0	0	A	109526137	G	A	109526137	3	1	79	1	0	0	0	0	1	0	0	0	523	1136	40	1	129	1	ALKBH2	12	109526137	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	5051606	109526137	24325758	289	4310											
MMAB	326625	broad.mit.edu	37	chr12	109998845	109998845	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctctccagccctcttacCgtctctcggcccggcggcac	3	9	8	21	4	3	0	0	0	3	0	7	0	4	0	5	3	2	1	5	3	1	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:109998845C>T	ENST00000545712.2	-	7	977	c.584_splice	c.e7+1	p.R195_splice	MMAB_ENST00000540016.1_Splice_Site_p.R143_splice|MMAB_ENST00000266839.5_Splice_Site_p.R104_splice	NM_052845.3	NP_443077.1	Q96EY8	MMAB_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblB type	195					cobalamin biosynthetic process	mitochondrion	ATP binding|cob(I)yrinic acid a,c-diamide adenosyltransferase activity			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GCCCTCTTACCGTCTCTCGGC	0.657													6	21					0	0	1	0	0	T	109998845	C	T	109998845	5	4	79	1	0	0	0	0	0	0	1	0	9688	666	23	1	180	1	MMAB	12	109998845	Splice_Site	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	472708	109998845	23853050	290	4311											
PLBD2	196463	broad.mit.edu	37	chr12	113810526	113810526	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtatgaagtcggctactgcGagaggctgaagagcttcctg	10	9	14	8	2	0	4	0	2	0	2	2	5	1	4	1	2	3	4	1	2	4	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:113810526G>A	ENST00000280800.3	+	3	488	c.457G>A	c.(457-459)Gag>Aag	p.E153K	PLBD2_ENST00000545182.2_Missense_Mutation_p.E153K	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	153					lipid catabolic process	lysosomal lumen	hydrolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						CGGCTACTGCGAGAGGCTGAA	0.572													32	72					0	0	1	0	0	A	113810526	G	A	113810526	3	1	79	1	0	0	0	0	1	0	0	0	12074	1059	37	1	467	1	PLBD2	12	113810526	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	3811681	113810526	20041369	291	4312											
MSI1	4440	broad.mit.edu	37	chr12	120791157	120791157	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtataactccggctggcgtaGgttgtggcttggaaacctgg	7	11	15	8	2	0	0	0	0	0	0	1	1	1	1	2	6	2	5	2	6	4	5			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:120791157G>T	ENST00000257552.2	-	10	766	c.678C>A	c.(676-678)acC>acA	p.T226T	MSI1_ENST00000546622.1_5'UTR	NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1	226					nervous system development	cytoplasm|nucleus	nucleotide binding			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGCTGGCGTAGGTTGTGGCTT	0.597													17	51					4.75885e-15	5.13428e-15	1	1	0	T	120791157	G	T	120791157	2	4	79	1	0	0	0	0	0	0	0	1	9924	987	35	4		4	MSI1	12	120791157	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	6980631	120791157	13060738	292	4313											
EIF2B1	1967	broad.mit.edu	37	chr12	124106408	124106408	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcagtgtagtcgacccaCggatgctcctctttgaggtc	6	10	14	11	2	1	1	0	1	1	0	4	3	2	2	2	4	1	3	2	4	1	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:124106408C>T	ENST00000424014.2	-	9	1021	c.813G>A	c.(811-813)ccG>ccA	p.P271P	EIF2B1_ENST00000539951.1_3'UTR	NM_001414.3	NP_001405.1	Q14232	EI2BA_HUMAN	eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa	271					cellular response to stimulus|oligodendrocyte development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex|membrane fraction|plasma membrane	protein binding|translation initiation factor activity			breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		AGTCGACCCACGGATGCTCCT	0.512													4	22					0	0	1	0	0	T	124106408	C	T	124106408	2	4	79	1	0	0	0	0	0	0	0	1	5026	523	19	1		1	EIF2B1	12	124106408	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	3315251	124106408	9745487	293	4314											
EP400	57634	broad.mit.edu	37	chr12	132502815	132502815	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ataaaatcactcgtcacgagGcagagttgctgtctaagaaa	15	9	9	8	2	3	2	2	0	1	2	4	3	3	2	0	1	1	3	0	1	4	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr12:132502815G>A	ENST00000333577.4	+	22	4388	c.4279G>A	c.(4279-4281)Gca>Aca	p.A1427T	EP400_ENST00000389562.2_Missense_Mutation_p.A1390T|EP400_ENST00000330386.6_Missense_Mutation_p.A1391T|EP400_ENST00000389561.2_Missense_Mutation_p.A1391T|EP400_ENST00000332482.4_Missense_Mutation_p.A1354T			Q96L91	EP400_HUMAN	E1A binding protein p400	1427					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TCGTCACGAGGCAGAGTTGCT	0.463													6	42					0	0	1	0	0	A	132502815	G	A	132502815	3	1	79	1	0	0	0	0	1	0	0	0	5177	1203	42	2	4246	2	EP400	12	132502815	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	8396407	132502815	1349080	294	4315											
MPHOSPH8	54737	broad.mit.edu	37	chr13	20235872	20235872	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gacactggtgatgcttgccgCcgccggagggcaggacgacc	7	5	16	13	4	0	1	0	1	0	0	0	5	0	3	4	4	2	2	4	4	0	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr13:20235872C>T	ENST00000361479.5	+	8	1894	c.1826C>T	c.(1825-1827)gCc>gTc	p.A609V	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.A609V	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	609					cell cycle	cytoplasm|nucleus				breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		ATGCTTGCCGCCGCCGGAGGG	0.502													18	120					0	0	1	0	0	T	20235872	C	T	20235872	3	4	79	1	0	0	0	0	1	0	0	0	9776	739	26	2	1856	2	MPHOSPH8	13	20235872	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08		20235872	94934006	295	4316											
PABPC3	5042	broad.mit.edu	37	chr13	25672097	25672097	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttggagattgataattcagaActtctttatatgctcgagtc	11	16	8	6	1	2	3	1	1	1	2	4	5	2	3	0	1	2	1	0	1	4	8			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr13:25672097A>G	ENST00000281589.3	+	1	1798	c.1761A>G	c.(1759-1761)gaA>gaG	p.E587E		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	587	PABC.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		ATAATTCAGAACTTCTTTATA	0.448													6	109					0	0	1	0	0	G	25672097	A	G	25672097	2	3	79	1	0	0	0	0	0	0	0	1	11412	40	2	3		3	PABPC3	13	25672097	Silent	SNP	A	TCGA-EJ-7782-01A-11D-2114-08	5436225	25672097	89497781	296	4317											
MTIF3	219402	broad.mit.edu	37	chr13	28014243	28014243	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtgttcctttgaaccagtcGcaggtctcgctcatccataa	8	12	9	12	2	2	1	1	1	1	0	6	1	4	1	3	2	1	3	3	2	2	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr13:28014243G>A	ENST00000381116.1	-	5	577	c.343C>T	c.(343-345)Cga>Tga	p.R115*	MTIF3_ENST00000381120.3_Nonsense_Mutation_p.R115*|MTIF3_ENST00000405591.2_Nonsense_Mutation_p.R115*|MTIF3_ENST00000431572.2_Nonsense_Mutation_p.R115*|MTIF3_ENST00000461838.1_5'UTR			Q9H2K0	IF3M_HUMAN	mitochondrial translational initiation factor 3	115					regulation of translational initiation|ribosome disassembly	mitochondrion	ribosomal small subunit binding|translation initiation factor activity			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.108)|OV - Ovarian serous cystadenocarcinoma(117;0.157)		TGAACCAGTCGCAGGTCTCGC	0.478													6	76					0	0	1	0	0	A	28014243	G	A	28014243	4	1	79	1	0	0	0	0	0	1	0	0	9983	1095	38	1	505	1	MTIF3	13	28014243	Nonsense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	2342146	28014243	87155635	297	4318											
STARD13	90627	broad.mit.edu	37	chr13	33684168	33684168	+	Frame_Shift_Del	DEL	G	G	-																															acgcggttcaggaccactgaGgggggtgcttccacctccac																								rs34251901	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr13:33684168delG	ENST00000336934.5	-	12	3005	c.2889delC	c.(2887-2889)ccfs	p.P963fs	STARD13_ENST00000255486.4_Frame_Shift_Del_p.P955fs|STARD13_ENST00000399365.3_Frame_Shift_Del_p.P845fs	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	963	START.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GGACCACTGAGGGGGGTGCTT	0.577											OREG0022359	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	27	---	---	---	---						-	33684168	G	-	33684168	7	5	79	1	0	1	0	1	0	0	0	0	15312	987	35	0	464	0	STARD13	13	33684168	Frame_Shift_Del	DEL	G	TCGA-EJ-7782-01A-11D-2114-08	5669925	33684168	81485710	298	4319											
NBEA	26960	broad.mit.edu	37	chr13	35770248	35770248	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgaaaatcctagtgaaacGttgaagcctgcaacatccat	15	9	7	10	1	0	3	0	3	0	0	2	3	2	3	3	0	4	2	3	0	6	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr13:35770248G>A	ENST00000540320.1	+	31	5709	c.5175G>A	c.(5173-5175)acG>acA	p.T1725T	NBEA_ENST00000400445.3_Silent_p.T1725T|NBEA_ENST00000310336.4_Silent_p.T1725T|NBEA_ENST00000379939.2_Silent_p.T1722T			Q8NFP9	NBEA_HUMAN	neurobeachin	1725						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CTAGTGAAACGTTGAAGCCTG	0.413													17	45					0	0	1	0	0	A	35770248	G	A	35770248	2	1	79	1	0	0	0	0	0	0	0	1	10235	1132	40	1		1	NBEA	13	35770248	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	2086080	35770248	79399630	299	4320											
FREM2	341640	broad.mit.edu	37	chr13	39261856	39261856	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggccgcctgagtcccaaGcgcttcccgtgcgactttgg	4	8	13	16	5	0	1	0	1	0	0	2	2	2	1	5	2	2	1	5	2	1	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr13:39261856G>A	ENST00000280481.7	+	1	591	c.375G>A	c.(373-375)aaG>aaA	p.K125K		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	125					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGAGTCCCAAGCGCTTCCCGT	0.697													3	2					0	0	1	0	0	A	39261856	G	A	39261856	2	1	79	1	0	0	0	0	0	0	0	1	6080	962	34	2		2	FREM2	13	39261856	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	3491608	39261856	75908022	300	4321											
GPC6	10082	broad.mit.edu	37	chr13	95034757	95034757	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggacgagagcgtgacagcGggcacgtccaacgaggagga	13	2	17	9	5	0	2	0	1	0	1	1	7	1	5	1	4	3	1	1	4	2	0			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr13:95034757G>A	ENST00000377047.4	+	7	1857	c.1242G>A	c.(1240-1242)gcG>gcA	p.A414A		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	414						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				GCGTGACAGCGGGCACGTCCA	0.532													18	16					0	0	1	0	0	A	95034757	G	A	95034757	2	1	79	1	0	0	0	0	0	0	0	1	6642	1103	39	1		1	GPC6	13	95034757	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	55772901	95034757	20135121	301	4322											
F7	2155	broad.mit.edu	37	chr13	113773158	113773158	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccacatgccacccactacCggggcacgtggtacctgacg	8	5	11	17	3	0	1	0	1	0	0	0	1	0	1	5	3	3	2	5	3	2	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr13:113773158C>T	ENST00000375581.3	+	9	1272	c.1237C>T	c.(1237-1239)Cgg>Tgg	p.R413W	F7_ENST00000346342.3_Missense_Mutation_p.R391W|F7_ENST00000541084.1_Missense_Mutation_p.R344W	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	413	Peptidase S1.		R -> G (in FA7D).|R -> Q (may be associated with decreased susceptibility to myocardial infarction; dbSNP:rs6046).		anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	CACCCACTACCGGGGCACGTG	0.627													3	17					0	0	1	0	0	T	113773158	C	T	113773158	3	4	79	1	0	0	0	0	1	0	0	0	5377	643	23	1	1271	1	F7	13	113773158	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	18738401	113773158	1396720	302	4323											
PCID2	55795	broad.mit.edu	37	chr13	113849441	113849441	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacatgacaggcagagcccTgcagggcaaaaaagtaaaca	18	4	10	9	0	0	2	0	1	0	1	0	2	0	2	1	2	4	4	1	2	6	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr13:113849441T>C	ENST00000375457.2	-	6	899		c.e6-2		PCID2_ENST00000351317.3_Intron|PCID2_ENST00000375479.2_Splice_Site|PCID2_ENST00000246505.5_Splice_Site|PCID2_ENST00000375477.1_Splice_Site|PCID2_ENST00000375459.1_Splice_Site|PCID2_ENST00000337344.4_Splice_Site	NM_001258213.1	NP_001245142.1	Q5JVF3	PCID2_HUMAN	PCI domain containing 2						negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			GGCAGAGCCCTGCAGGGCAAA	0.453													14	26					0	0	1	0	0	C	113849441	T	C	113849441	5	2	79	1	0	0	0	0	0	0	1	0	11626	1594	55	3	928	3	PCID2	13	113849441	Splice_Site	SNP	T	TCGA-EJ-7782-01A-11D-2114-08	76283	113849441	1320437	303	4324											
OR4E2	26686	broad.mit.edu	37	chr14	22133362	22133362	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggactcactgataaccgggtGctggaaatgctgtttttcat	9	13	11	8	1	2	1	2	1	0	0	2	3	2	3	1	3	3	3	1	3	2	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr14:22133362G>A	ENST00000408935.1	+	1	66	c.66G>A	c.(64-66)gtG>gtA	p.V22V		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		ATAACCGGGTGCTGGAAATGC	0.418													37	69					0	0	1	0	0	A	22133362	G	A	22133362	2	1	79	1	0	0	0	0	0	0	0	1	11108	1306	46	2		2	OR4E2	14	22133362	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08		22133362	85216178	304	4325											
REC8	9985	broad.mit.edu	37	chr14	24642164	24642164	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acccccgcagcccggcctgcCgcggccccgcttctccctct	2	6	9	24	5	2	0	0	0	2	0	3	0	2	0	8	2	2	2	8	2	0	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr14:24642164C>T	ENST00000311457.3	+	4	781	c.182C>T	c.(181-183)cCg>cTg	p.P61L	REC8_ENST00000559919.1_Missense_Mutation_p.P61L			O95072	REC8_HUMAN	REC8 meiotic recombination protein	61					mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		CCCGGCCTGCCGCGGCCCCGC	0.602													28	48					0	0	1	0	0	T	24642164	C	T	24642164	3	4	79	1	0	0	0	0	1	0	0	0	13251	652	23	1	192	1	REC8	14	24642164	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	2508802	24642164	82707376	305	4326											
FOXG1	2290	broad.mit.edu	37	chr14	29237390	29237390	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcctcaccttcatggaccGcgccggctccctctactggc	4	8	10	19	4	3	0	2	0	1	0	4	1	4	1	5	4	1	1	5	4	1	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr14:29237390G>A	ENST00000382535.3	+	2	1274	c.905G>A	c.(904-906)cGc>cAc	p.R302H	FOXG1_ENST00000313071.4_Missense_Mutation_p.R302H			P55316	FOXG1_HUMAN	forkhead box G1	302				RAGSLYWPMSPFLSLHHPR -> APAPSTGPCRPSCPCTTP (in Ref. 1; CAA52240 and 2; CAA55038).	axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		TTCATGGACCGCGCCGGCTCC	0.701													23	55					0	0	1	0	0	A	29237390	G	A	29237390	3	1	79	1	0	0	0	0	1	0	0	0	6041	1087	38	1	907	1	FOXG1	14	29237390	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	4595226	29237390	78112150	306	4327											
BAZ1A	11177	broad.mit.edu	37	chr14	35255348	35255348	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ataccctggtgtaactgtggCcatgcagctgccaaagatgc	10	9	11	11	0	0	1	0	0	0	1	0	1	0	1	3	2	6	3	3	2	3	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr14:35255348C>T	ENST00000360310.1	-	13	2157	c.1590G>A	c.(1588-1590)tgG>tgA	p.W530*	BAZ1A_ENST00000382422.2_Nonsense_Mutation_p.W530*|BAZ1A_ENST00000358716.4_Intron	NM_013448.2	NP_038476.2	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	530					chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		GTAACTGTGGCCATGCAGCTG	0.358													5	27					0	0	1	0	0	T	35255348	C	T	35255348	4	4	79	1	0	0	0	0	0	1	0	0	1327	740	26	2	3140	2	BAZ1A	14	35255348	Nonsense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	6017958	35255348	72094192	307	4328											
FOXA1	3169	broad.mit.edu	37	chr14	38061250	38061250	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgttgccggagtccgggtGcagcgtccagtaggagccct	6	8	15	12	3	0	0	0	0	0	0	2	2	2	2	4	3	4	3	4	3	1	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr14:38061250G>A	ENST00000250448.2	-	2	800	c.739C>T	c.(739-741)Cac>Tac	p.H247Y	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Missense_Mutation_p.H214Y	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	247					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		GAGTCCGGGTGCAGCGTCCAG	0.667													12	19					0	0	1	0	0	A	38061250	G	A	38061250	3	1	79	1	0	0	0	0	1	0	0	0	6022	1319	46	2	683	2	FOXA1	14	38061250	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	2805902	38061250	69288290	308	4329											
MDGA2	161357	broad.mit.edu	37	chr14	47504410	47504410	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctagaccaaaggatgattggTttaggtttgccagttacttg	10	14	11	6	0	0	2	0	1	0	1	0	3	0	3	2	3	2	3	2	3	4	7			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr14:47504410T>C	ENST00000426342.1	-	8	1475	c.729A>G	c.(727-729)aaA>aaG	p.K243K	MDGA2_ENST00000357362.3_Silent_p.K243K|MDGA2_ENST00000439988.2_Silent_p.K472K|MDGA2_ENST00000399232.2_Silent_p.K541K	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	472	Ig-like 3.				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						GGATGATTGGTTTAGGTTTGC	0.418													6	121					0	0	1	0	0	C	47504410	T	C	47504410	2	2	79	1	0	0	0	0	0	0	0	1	9457	1722	60	3		3	MDGA2	14	47504410	Silent	SNP	T	TCGA-EJ-7782-01A-11D-2114-08	9443160	47504410	59845130	309	4330											
KLHDC1	122773	broad.mit.edu	37	chr14	50176534	50176534	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggatatgatgacaaaggatAcagcaatcgagtaataattt	18	10	9	4	1	0	2	0	2	0	0	1	5	0	4	0	2	2	2	0	2	6	5			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr14:50176534A>G	ENST00000359332.2	+	3	365	c.275A>G	c.(274-276)tAc>tGc	p.Y92C		NM_172193.2	NP_751943.1	Q8N7A1	KLDC1_HUMAN	kelch domain containing 1	92						cytoplasm				kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	12	all_epithelial(31;0.00244)|Breast(41;0.00964)					GACAAAGGATACAGCAATCGA	0.358													12	32					0	0	1	0	0	G	50176534	A	G	50176534	3	3	79	1	0	0	0	0	1	0	0	0	8397	391	14	3	285	3	KLHDC1	14	50176534	Missense_Mutation	SNP	A	TCGA-EJ-7782-01A-11D-2114-08	2672124	50176534	57173006	310	4331											
AHSA1	10598	broad.mit.edu	37	chr14	77935578	77935578	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacagacctttggctatggcGcacgcttattttagggccag	9	11	11	10	2	0	1	0	0	0	1	0	1	0	1	2	3	1	3	2	3	4	5	rs141659647		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr14:77935578G>A	ENST00000216479.3	+	9	1163	c.1003G>A	c.(1003-1005)Gca>Aca	p.A335T	AHSA1_ENST00000555457.1_3'UTR	NM_012111.2	NP_036243.1	O95433	AHSA1_HUMAN	AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)	335					protein folding|response to stress	cytosol|endoplasmic reticulum	ATPase activator activity|chaperone binding			endometrium(1)|kidney(3)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		TGGCTATGGCGCACGCTTATT	0.587													26	69					0	0	1	0	0	A	77935578	G	A	77935578	3	1	79	1	0	0	0	0	1	0	0	0	415	1087	38	1	1037	1	AHSA1	14	77935578	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	27759044	77935578	29413962	311	4332											
ALKBH1	8846	broad.mit.edu	37	chr14	78140481	78140481	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgtggttcaagaggcggcTgaaacccgacattatcatga	11	9	12	9	3	2	3	2	2	0	1	2	4	2	3	1	3	2	2	1	3	3	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr14:78140481T>C	ENST00000216489.3	-	6	859	c.844A>G	c.(844-846)Agc>Ggc	p.S282G		NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	282	Fe2OG dioxygenase.				DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		AAGAGGCGGCTGAAACCCGAC	0.577													11	22					0	0	1	0	0	C	78140481	T	C	78140481	3	2	79	1	0	0	0	0	1	0	0	0	522	1580	55	3	329	3	ALKBH1	14	78140481	Missense_Mutation	SNP	T	TCGA-EJ-7782-01A-11D-2114-08	204903	78140481	29209059	312	4333											
RIN3	79890	broad.mit.edu	37	chr14	93022190	93022190	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaaaaactgccttcctcacCgccggggcatcagcatcctg	9	7	9	16	3	2	0	2	0	0	0	4	1	4	0	5	2	3	2	5	2	2	1	rs138055945		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr14:93022190C>T	ENST00000216487.7	+	2	298	c.139C>T	c.(139-141)Cgc>Tgc	p.R47C		NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	47					endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				CCTTCCTCACCGCCGGGGCAT	0.587													15	25					0	0	1	0	0	T	93022190	C	T	93022190	3	4	79	1	0	0	0	0	1	0	0	0	13425	652	23	1	145	1	RIN3	14	93022190	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	14881709	93022190	14327350	313	4334											
SERPINA10	51156	broad.mit.edu	37	chr14	94756471	94756471	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggcccagttccaggttgcGggagagggtctctctgagtc	6	9	16	10	1	2	2	0	1	2	1	5	4	3	2	2	4	1	2	2	4	0	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr14:94756471G>A	ENST00000554723.1	-	2	998	c.580C>T	c.(580-582)Cgc>Tgc	p.R194C	SERPINA10_ENST00000393096.1_Missense_Mutation_p.R154C|SERPINA10_ENST00000261994.4_Missense_Mutation_p.R154C|SERPINA10_ENST00000554173.1_Missense_Mutation_p.R154C			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	154					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		TCCAGGTTGCGGGAGAGGGTC	0.517													15	54					0	0	1	0	0	A	94756471	G	A	94756471	3	1	79	1	0	0	0	0	1	0	0	0	14141	1116	39	1	890	1	SERPINA10	14	94756471	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	1734281	94756471	12593069	314	4335											
DICER1	23405	broad.mit.edu	37	chr14	95571440	95571440	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagtgatctgactcccacGccagcatcgctggcagtctg	8	8	12	13	2	2	2	0	2	2	0	4	3	3	3	2	2	1	3	2	2	1	0			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr14:95571440G>A	ENST00000556045.1	-	3	290	c.8C>T	c.(7-9)gCg>gTg	p.A3V	DICER1_ENST00000343455.3_Silent_p.G1079G|DICER1_ENST00000526495.1_Silent_p.G1079G|DICER1_ENST00000393063.1_Silent_p.G1079G|DICER1_ENST00000541352.1_Silent_p.G1079G|DICER1_ENST00000527414.1_Silent_p.G1079G			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	0					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			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)		TGACTCCCACGCCAGCATCGC	0.488			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				30	53					0	0	1	0	0	A	95571440	G	A	95571440	3	1	79	1	0	0	0	0	1	0	0	0	4549	1074	38	1	2563	1	DICER1	14	95571440	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	814969	95571440	11778100	315	4336											
AHNAK2	113146	broad.mit.edu	37	chr14	105409688	105409688	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggccctctgggagtttcaCgtccacttggccagcctgga	5	9	14	13	1	2	0	1	0	1	0	3	2	3	2	4	5	1	1	4	5	0	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr14:105409688C>T	ENST00000333244.5	-	7	12219	c.12100G>A	c.(12100-12102)Gtg>Atg	p.V4034M	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4034						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGAGTTTCACGTCCACTTGG	0.637													12	184					0	0	1	0	0	T	105409688	C	T	105409688	3	4	79	1	0	0	0	0	1	0	0	0	412	536	19	1	5291	1	AHNAK2	14	105409688	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	9838248	105409688	1939852	316	4337											
GABRA5	2558	broad.mit.edu	37	chr15	27193181	27193181	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaacagaccccagcagggaCgtcgaatacaacctcagtct	13	5	10	13	2	2	1	1	0	1	1	3	4	2	3	3	2	4	1	3	2	4	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr15:27193181C>T	ENST00000335625.5	+	11	2078	c.1190C>T	c.(1189-1191)aCg>aTg	p.T397M	GABRA5_ENST00000400081.3_Missense_Mutation_p.T397M|GABRA5_ENST00000355395.5_Missense_Mutation_p.T397M	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	397					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CCAGCAGGGACGTCGAATACA	0.423													4	13					0	0	1	0	0	T	27193181	C	T	27193181	3	4	79	1	0	0	0	0	1	0	0	0	6199	536	19	1	1224	1	GABRA5	15	27193181	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08		27193181	75338211	317	4338											
C15orf56	644809	broad.mit.edu	37	chr15	40544701	40544701	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacttggcaacttctcccgCgctctgggttcgccgccgcg	4	9	11	17	6	2	0	0	0	2	0	4	0	2	0	3	2	1	3	3	2	1	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr15:40544701C>T	ENST00000319503.3	-	2	292	c.271G>A	c.(271-273)Gcg>Acg	p.A91T	RP11-133K1.2_ENST00000558658.1_Intron|PAK6_ENST00000455577.2_Intron|PAK6_ENST00000260404.4_Intron|C15orf56_ENST00000559727.1_3'UTR|PAK6_ENST00000441369.1_Intron|PAK6_ENST00000560346.1_Intron|PAK6_ENST00000453867.1_Intron	NM_001039905.1	NP_001034994.1	Q8N910	CO056_HUMAN	chromosome 15 open reading frame 56	91										lung(1)	1		all_cancers(109;1.62e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;3.4e-09)|all_lung(180;6.88e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.28e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0503)		ACTTCTCCCGCGCTCTGGGTT	0.662													5	14					0	0	1	0	0	T	40544701	C	T	40544701	3	4	79	1	0	0	0	0	1	0	0	0	1810	768	27	1	218	1	C15orf56	15	40544701	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	13351520	40544701	61986691	318	4339											
EHD4	30844	broad.mit.edu	37	chr15	42193022	42193022	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccagatcttgcccaggaCgctgttgggcagcttggagg	6	10	14	11	1	1	1	0	0	1	1	2	3	2	3	2	4	2	4	2	4	0	4			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr15:42193022C>T	ENST00000220325.4	-	6	1530	c.1447G>A	c.(1447-1449)Gtc>Atc	p.V483I		NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	483	EF-hand.|EH.				endocytic recycling|protein homooligomerization	early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		TTGCCCAGGACGCTGTTGGGC	0.567													4	41					0	0	1	0	0	T	42193022	C	T	42193022	3	4	79	1	0	0	0	0	1	0	0	0	5006	536	19	1	182	1	EHD4	15	42193022	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	1648321	42193022	60338370	319	4340											
GALK2	2585	broad.mit.edu	37	chr15	49574217	49574217	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaatctgtgccaagagtgagCgttacattggcactgaagga	13	9	12	7	1	1	3	0	2	1	1	1	4	1	4	1	2	3	2	1	2	4	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr15:49574217C>T	ENST00000327171.3	+	6	737	c.505C>T	c.(505-507)Cgt>Tgt	p.R169C	GALK2_ENST00000560031.1_Missense_Mutation_p.R180C|GALK2_ENST00000543495.1_Missense_Mutation_p.R51C|GALK2_ENST00000559454.1_Missense_Mutation_p.R156C|GALK2_ENST00000396509.2_Missense_Mutation_p.R156C|GALK2_ENST00000561014.1_3'UTR|GALK2_ENST00000544523.1_Missense_Mutation_p.R156C	NM_001001556.1	NP_001001556.1	Q01415	GALK2_HUMAN	galactokinase 2	180					galactose metabolic process	cytoplasm	ATP binding|galactokinase activity|N-acetylgalactosamine kinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		all_lung(180;0.000325)		all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05)		CAAGAGTGAGCGTTACATTGG	0.413													18	45					0	0	1	0	0	T	49574217	C	T	49574217	3	4	79	1	0	0	0	0	1	0	0	0	6244	768	27	1	584	1	GALK2	15	49574217	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	7381195	49574217	52957175	320	4341											
MNS1	55329	broad.mit.edu	37	chr15	56735681	56735681	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcctggtataattcttgtcGcacttgttccaaatcttcac	8	17	5	11	1	3	0	1	0	2	0	6	0	5	0	2	1	0	3	2	1	3	8			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr15:56735681G>A	ENST00000260453.3	-	7	1122	c.958C>T	c.(958-960)Cga>Tga	p.R320*	TEX9_ENST00000537232.1_Intron|TEX9_ENST00000352903.2_Intron	NM_018365.2	NP_060835.1	Q8NEH6	MNS1_HUMAN	meiosis-specific nuclear structural 1	320	Glu-rich.				meiosis					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20				all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)		AATTCTTGTCGCACTTGTTCC	0.294													7	27					0	0	1	0	0	A	56735681	G	A	56735681	4	1	79	1	0	0	0	0	0	1	0	0	9726	1095	38	1	545	1	MNS1	15	56735681	Nonsense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	7161464	56735681	45795711	321	4342											
SLTM	79811	broad.mit.edu	37	chr15	59179240	59179240	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctcccgtaccccgaagcGctgctacgattcccaggggg	6	7	12	16	4	0	0	0	0	0	0	2	2	2	0	4	2	5	4	4	2	3	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr15:59179240G>A	ENST00000380516.2	-	19	2856	c.2769C>T	c.(2767-2769)agC>agT	p.S923S	SLTM_ENST00000536328.1_Silent_p.S492S	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	923					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ACCCCGAAGCGCTGCTACGAT	0.562													4	34					0	0	1	0	0	A	59179240	G	A	59179240	2	1	79	1	0	0	0	0	0	0	0	1	14808	1078	38	1		1	SLTM	15	59179240	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	2443559	59179240	43352152	322	4343											
FBXL22	283807	broad.mit.edu	37	chr15	63889730	63889730	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgacgtgtttgaggaccccGcactctggtccctgctgcac	6	9	11	15	3	1	1	0	1	1	0	2	3	2	2	3	2	2	4	3	2	0	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr15:63889730G>A	ENST00000360587.2	+	1	179	c.139G>A	c.(139-141)Gca>Aca	p.A47T	USP3-AS1_ENST00000558831.1_RNA|USP3-AS1_ENST00000561256.1_RNA|FBXL22_ENST00000539570.3_Missense_Mutation_p.A41T|USP3-AS1_ENST00000561191.1_RNA|USP3-AS1_ENST00000560962.1_RNA|USP3-AS1_ENST00000560622.1_RNA|USP3-AS1_ENST00000559737.1_RNA|FBXL22_ENST00000534939.1_Missense_Mutation_p.A47T	NM_203373.2	NP_976307.2	Q6P050	FXL22_HUMAN	F-box and leucine-rich repeat protein 22	41										lung(4)	4						TGAGGACCCCGCACTCTGGTC	0.622													6	19					0	0	1	0	0	A	63889730	G	A	63889730	3	1	79	1	0	0	0	0	1	0	0	0	5752	1087	38	1	123	1	FBXL22	15	63889730	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	4710490	63889730	38641662	323	4344											
IGDCC3	9543	broad.mit.edu	37	chr15	65622631	65622631	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actccatccccagccctcacCtgtcctctcagatgctcccc	6	9	4	22	0	2	1	2	0	1	1	7	1	6	1	8	0	2	1	8	0	0	0			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr15:65622631C>A	ENST00000327987.4	-	11	2109	c.1858_splice	c.e11+1	p.A620_splice		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	620										breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CAGCCCTCACCTGTCCTCTCA	0.567													9	78					3.09899e-07	3.24656e-07	1	1	0	A	65622631	C	A	65622631	5	1	79	1	0	0	0	0	0	0	1	0	7612	695	24	4	602	4	IGDCC3	15	65622631	Splice_Site	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	1732901	65622631	36908761	324	4345											
ARID3B	10620	broad.mit.edu	37	chr15	74883589	74883589	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggcaaccgcagggagggcCggcggcccagctacagctcc	8	3	15	15	3	0	0	0	0	0	0	1	1	1	1	4	5	4	4	4	5	2	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr15:74883589C>T	ENST00000346246.5	+	6	1210	c.979C>T	c.(979-981)Cgg>Tgg	p.R327W		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	327	Interaction with RB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						CAGGGAGGGCCGGCGGCCCAG	0.612													28	96					0	0	1	0	0	T	74883589	C	T	74883589	3	4	79	1	0	0	0	0	1	0	0	0	914	643	23	1	997	1	ARID3B	15	74883589	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	9260958	74883589	27647803	325	4346											
MAN2C1	4123	broad.mit.edu	37	chr15	75655014	75655014	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagatgaactcagggttcCgctccatgagctgcagggcg	10	7	13	11	2	1	3	1	2	0	1	3	3	3	3	2	2	3	4	2	2	2	1	rs149884810		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr15:75655014C>T	ENST00000565683.1	-	7	877	c.866G>A	c.(865-867)cGg>cAg	p.R289Q	MAN2C1_ENST00000563622.1_Intron|MAN2C1_ENST00000569482.1_Missense_Mutation_p.R289Q|MAN2C1_ENST00000267978.5_Missense_Mutation_p.R289Q	NM_001256494.1	NP_001243423.1	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	289					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						CTCAGGGTTCCGCTCCATGAG	0.622													7	19					0	0	1	0	0	T	75655014	C	T	75655014	3	4	79	1	0	0	0	0	1	0	0	0	9268	652	23	1	2336	1	MAN2C1	15	75655014	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	771425	75655014	26876378	326	4347											
MEX3B	84206	broad.mit.edu	37	chr15	82336338	82336338	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgtggaagcactgccaagCgagctggagctgtcgttgcg	7	9	15	10	3	1	0	0	0	1	0	2	3	1	2	1	2	6	4	1	2	2	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr15:82336338C>T	ENST00000329713.4	-	2	1308	c.873G>A	c.(871-873)tcG>tcA	p.S291S	MEX3B_ENST00000558133.1_3'UTR	NM_032246.3	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	291					protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						CACTGCCAAGCGAGCTGGAGC	0.692													13	41					0	0	1	0	0	T	82336338	C	T	82336338	2	4	79	1	0	0	0	0	0	0	0	1	9560	755	27	1		1	MEX3B	15	82336338	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	6681324	82336338	20195054	327	4348											
CPEB1	64506	broad.mit.edu	37	chr15	83221233	83221233	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acatcacgctaactcacctcCttgcagcgcatccttcggct	8	10	6	17	3	2	0	2	0	0	0	5	0	4	0	3	1	3	4	3	1	1	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr15:83221233C>A	ENST00000563800.1	-	8	3003	c.1278G>T	c.(1276-1278)aaG>aaT	p.K426N	CPEB1_ENST00000398592.2_Missense_Mutation_p.K173N|CPEB1_ENST00000261723.6_Missense_Mutation_p.K402N|CPEB1_ENST00000568757.1_Missense_Mutation_p.K324N|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000568128.1_Missense_Mutation_p.K399N|CPEB1_ENST00000564522.1_Missense_Mutation_p.K324N|CPEB1_ENST00000562019.1_Missense_Mutation_p.K404N|RP11-152F13.10_ENST00000562833.1_Missense_Mutation_p.R134M|CPEB1_ENST00000450751.2_Missense_Mutation_p.K324N|CPEB1_ENST00000423133.2_Missense_Mutation_p.K324N|CPEB1_ENST00000398591.2_Missense_Mutation_p.K329N			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	404	Necessary for stress granule assembly and correct localization in dcp1 bodies.				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			AACTCACCTCCTTGCAGCGCA	0.522													7	27					1.26484e-09	1.33894e-09	1	1	0	A	83221233	C	A	83221233	3	1	79	1	0	0	0	0	1	0	0	0	3823	680	24	4	508	4	CPEB1	15	83221233	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	884895	83221233	19310159	328	4349											
PDE8A	5151	broad.mit.edu	37	chr15	85659319	85659325	+	Frame_Shift_Del	DEL	ATTTTTG	ATTTTTG	-																															aggaatactgggactttgatAtttttgaactggaggctgcc																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr15:85659319_85659325delATTTTTG	ENST00000310298.4	+	17	1756_1762	c.1504_1510delATTTTTG	c.(1504-1512)aafs	p.IFE502fs	PDE8A_ENST00000394553.1_Frame_Shift_Del_p.IFE502fs|PDE8A_ENST00000557957.1_Frame_Shift_Del_p.IFE430fs|PDE8A_ENST00000339708.5_Frame_Shift_Del_p.IFE456fs			O60658	PDE8A_HUMAN	phosphodiesterase 8A	502					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			GGACTTTGATATTTTTGAACTGGAGGC	0.493													22	55	---	---	---	---						-	85659325	ATTTTTG	-	85659319	7	5	79	1	0	1	0	1	0	0	0	0	11700	449	16	0	1566	0	PDE8A	15	85659319	Frame_Shift_Del	DEL	ATTTTTG	TCGA-EJ-7782-01A-11D-2114-08	2438086	85659319	16872073	329	4350											
SEMA4B	10509	broad.mit.edu	37	chr15	90763060	90763060	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacatcaagatcctcctgccGctcagcggcagtcacctgtt	8	10	8	15	2	3	1	3	0	0	1	5	1	5	1	4	1	3	3	4	1	2	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr15:90763060G>A	ENST00000411539.2	+	4	680	c.420G>A	c.(418-420)ccG>ccA	p.P140P	SEMA4B_ENST00000332496.6_Silent_p.P140P|SEMA4B_ENST00000379122.3_Silent_p.P135P	NM_198925.2	NP_945119.1			sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B											NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			TCCTCCTGCCGCTCAGCGGCA	0.622											OREG0023468	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	17					0	0	1	0	0	A	90763060	G	A	90763060	2	1	79	1	0	0	0	0	0	0	0	1	14086	1074	38	1		1	SEMA4B	15	90763060	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	5103741	90763060	11768332	330	4351											
MAN2A2	4122	broad.mit.edu	37	chr15	91456125	91456125	+	Frame_Shift_Del	DEL	C	C	-																															agccctacgtccccaaggagCcccccgtgctgcgtgtcact																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr15:91456125delC	ENST00000360468.3	+	16	2506	c.2488delC	c.(2488-2490)ccfs	p.P831fs	MAN2A2_ENST00000431652.2_Frame_Shift_Del_p.P339fs|MAN2A2_ENST00000430376.2_Frame_Shift_Del_p.P21fs|MAN2A2_ENST00000559717.1_Frame_Shift_Del_p.P831fs	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	831					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CCCCAAGGAGCCCCCCGTGCT	0.572													8	69	---	---	---	---						-	91456125	C	-	91456125	7	5	79	1	0	1	0	1	0	0	0	0	9265	739	26	0	2550	0	MAN2A2	15	91456125	Frame_Shift_Del	DEL	C	TCGA-EJ-7782-01A-11D-2114-08	693065	91456125	11075267	331	4352											
RPUSD1	113000	broad.mit.edu	37	chr16	836359	836359	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagggcactgcagtgcacgCgcagctggtgtgtccggcct	5	7	15	14	3	0	0	0	0	0	0	1	0	1	0	3	3	3	5	3	3	0	0			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:836359C>A	ENST00000561734.1	-	5	773	c.530G>T	c.(529-531)cGc>cTc	p.R177L	RPUSD1_ENST00000565809.1_3'UTR|RPUSD1_ENST00000567114.1_Missense_Mutation_p.R48L|RPUSD1_ENST00000007264.2_Missense_Mutation_p.R177L			Q9UJJ7	RUSD1_HUMAN	RNA pseudouridylate synthase domain containing 1	177					pseudouridine synthesis		pseudouridine synthase activity|RNA binding			endometrium(3)|lung(2)|skin(2)	7		Hepatocellular(780;0.00335)				GCAGTGCACGCGCAGCTGGTG	0.687													6	55					0.0293803	0.0294969	1	1	0	A	836359	C	A	836359	3	1	79	1	0	0	0	0	1	0	0	0	13718	768	27	4	412	4	RPUSD1	16	836359	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08		836359	89518394	332	4353											
PKD1	5310	broad.mit.edu	37	chr16	2143019	2143019	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgctttgcagacggtaggCgtgcccatggcatgaggcat	7	8	16	10	3	0	2	0	1	0	1	0	2	0	2	1	5	2	5	1	5	1	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:2143019C>T	ENST00000262304.4	-	38	11300	c.11092G>A	c.(11092-11094)Gcc>Acc	p.A3698T	PKD1_ENST00000423118.1_Missense_Mutation_p.A3697T|RP11-304L19.1_ENST00000570072.1_RNA	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3698					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AGACGGTAGGCGTGCCCATGG	0.642													11	73					0	0	1	0	0	T	2143019	C	T	2143019	3	4	79	1	0	0	0	0	1	0	0	0	12011	768	27	1	1855	1	PKD1	16	2143019	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	1306660	2143019	88211734	333	4354											
TRAF7	84231	broad.mit.edu	37	chr16	2226330	2226330	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccagggcagtgtcaccgCgctggctgtgtcccggggcc	4	7	15	15	3	2	0	2	0	0	0	3	0	3	0	4	4	0	3	4	4	0	0			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:2226330C>T	ENST00000326181.6	+	20	2075	c.1943C>T	c.(1942-1944)gCg>gTg	p.A648V		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase	648					activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						AGTGTCACCGCGCTGGCTGTG	0.642													6	12					0	0	1	0	0	T	2226330	C	T	2226330	3	4	79	1	0	0	0	0	1	0	0	0	16507	768	27	1	2017	1	TRAF7	16	2226330	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	83311	2226330	88128423	334	4355											
THOC6	79228	broad.mit.edu	37	chr16	3076395	3076395	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagtgcctgagatcaacgCtttgctgctggtccccaagg	8	9	13	11	1	1	1	1	1	0	1	2	3	2	2	3	3	4	3	3	3	3	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:3076395C>A	ENST00000326266.8	+	6	688	c.392C>A	c.(391-393)gCt>gAt	p.A131D	THOC6_ENST00000253952.9_Missense_Mutation_p.A131D|THOC6_ENST00000575576.1_Missense_Mutation_p.A107D|THOC6_ENST00000574549.1_Missense_Mutation_p.A107D	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN	THO complex 6 homolog (Drosophila)	131					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	RNA binding			central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						GAGATCAACGCTTTGCTGCTG	0.542													20	23					1.15919e-05	1.20194e-05	1	1	0	A	3076395	C	A	3076395	3	1	79	1	0	0	0	0	1	0	0	0	15929	797	28	4	414	4	THOC6	16	3076395	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	850065	3076395	87278358	335	4356											
TEKT5	146279	broad.mit.edu	37	chr16	10788424	10788424	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgggaggcctcggccccacGcacctgcagctggttggact	5	6	14	16	3	0	0	0	0	0	0	1	2	0	2	5	5	2	4	5	5	0	1	rs143356838		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:10788424G>A	ENST00000283025.2	-	1	378	c.307C>T	c.(307-309)Cgt>Tgt	p.R103C		NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	103					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						TCGGCCCCACGCACCTGCAGC	0.672													7	78					0	0	1	0	0	A	10788424	G	A	10788424	3	1	79	1	0	0	0	0	1	0	0	0	15815	1087	38	1	1178	1	TEKT5	16	10788424	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	7712029	10788424	79566329	336	4357											
GPRC5B	0	broad.mit.edu	37	chr16	19883185	19883185	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgttctccatataggccCgcggcagctgcacgtcctcc	5	10	9	17	3	1	0	0	0	1	0	4	0	3	0	5	2	2	4	5	2	2	4			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:19883185C>A	ENST00000300571.2	-	2	1174	c.983G>T	c.(982-984)cGg>cTg	p.R328L	GPRC5B_ENST00000569847.1_Missense_Mutation_p.R328L|GPRC5B_ENST00000569479.1_Missense_Mutation_p.R328L|GPRC5B_ENST00000537135.1_Missense_Mutation_p.R354L|GPRC5B_ENST00000535671.1_Missense_Mutation_p.R328L	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, family C, group 5, member B	328										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CATATAGGCCCGCGGCAGCTG	0.607													5	60					3.59834e-05	3.70826e-05	1	1	0	A	19883185	C	A	19883185	3	1	79	1	0	0	0	0	1	0	0	0	6766	652	23	4	240	4	GPRC5B	16	19883185	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	9094761	19883185	70471568	337	4358											
DNAH3	55567	broad.mit.edu	37	chr16	21053359	21053359	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcatttaccttgagattgTcgggcagttcagccctgcca	7	12	11	11	1	1	1	1	1	0	1	2	2	1	1	3	2	3	3	3	2	1	5			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:21053359T>C	ENST00000261383.3	-	32	4627	c.4628A>G	c.(4627-4629)gAc>gGc	p.D1543G	DNAH3_ENST00000415178.1_Missense_Mutation_p.D1543G	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1543	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTTGAGATTGTCGGGCAGTTC	0.517													20	48					0	0	1	0	0	C	21053359	T	C	21053359	3	2	79	1	0	0	0	0	1	0	0	0	4631	1667	58	3	7845	3	DNAH3	16	21053359	Missense_Mutation	SNP	T	TCGA-EJ-7782-01A-11D-2114-08	1170174	21053359	69301394	338	4359											
IL4R	3566	broad.mit.edu	37	chr16	27372111	27372111	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagtgggagaagcggtccCgaggccaggaaccagccaag	12	2	15	12	2	0	1	0	0	0	1	1	4	1	2	4	4	3	0	4	4	3	0			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:27372111C>T	ENST00000395762.2	+	10	1133	c.874C>T	c.(874-876)Cga>Tga	p.R292*	IL4R_ENST00000543915.2_Nonsense_Mutation_p.R292*|IL4R_ENST00000380922.3_Nonsense_Mutation_p.R277*|IL4R_ENST00000170630.2_Nonsense_Mutation_p.R292*|IL4R_ENST00000565915.1_3'UTR	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	292					immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						GAAGCGGTCCCGAGGCCAGGA	0.557													28	65					0	0	1	0	0	T	27372111	C	T	27372111	4	4	79	1	0	0	0	0	0	1	0	0	7742	644	23	1	922	1	IL4R	16	27372111	Nonsense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	6318752	27372111	62982642	339	4360											
TGFB1I1	7041	broad.mit.edu	37	chr16	31485718	31485718	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaaggcttctgccacctcagCcactctggagctggatagac	10	8	10	13	0	3	1	1	0	2	1	3	3	3	3	3	3	3	2	3	3	2	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:31485718C>T	ENST00000394863.3	+	6	591	c.461C>T	c.(460-462)gCc>gTc	p.A154V	TGFB1I1_ENST00000361773.3_Missense_Mutation_p.A137V|TGFB1I1_ENST00000394858.2_Missense_Mutation_p.A137V|TGFB1I1_ENST00000567607.1_Missense_Mutation_p.A137V	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced transcript 1	154	Interaction with PTK2B.|Transcription activation (By similarity).				androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding			lung(8)|upper_aerodigestive_tract(1)	9						GCCACCTCAGCCACTCTGGAG	0.577													4	58					0	0	1	0	0	T	31485718	C	T	31485718	3	4	79	1	0	0	0	0	1	0	0	0	15877	739	26	2	483	2	TGFB1I1	16	31485718	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	4113607	31485718	58869035	340	4361											
ABCC11	85320	broad.mit.edu	37	chr16	48212570	48212570	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctgtctccaagccaatccGggcagtggcctggaagctgg	7	8	13	13	1	2	0	0	0	2	0	4	1	3	1	4	4	2	2	4	4	3	0			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:48212570G>A	ENST00000394747.1	-	23	3635	c.3286C>T	c.(3286-3288)Cgg>Tgg	p.R1096W	ABCC11_ENST00000394748.1_Missense_Mutation_p.R1096W|ABCC11_ENST00000353782.5_Missense_Mutation_p.R1096W|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000356608.2_Missense_Mutation_p.R1096W	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1096	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				AAGCCAATCCGGGCAGTGGCC	0.582													5	55					0	0	1	0	0	A	48212570	G	A	48212570	3	1	79	1	0	0	0	0	1	0	0	0	51	1115	39	1	890	1	ABCC11	16	48212570	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	16726852	48212570	42142183	341	4362											
CDH5	1003	broad.mit.edu	37	chr16	66413286	66413286	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccacatcgggcgcctgcctgGgcctgctggcagtggcagca	5	6	15	15	2	0	0	0	0	0	0	1	0	0	0	4	4	3	4	4	4	0	0			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:66413286G>A	ENST00000341529.3	+	2	194	c.46G>A	c.(46-48)Ggc>Agc	p.G16S	CDH5_ENST00000563425.2_Missense_Mutation_p.G16S	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	16					adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		CGCCTGCCTGGGCCTGCTGGC	0.627													23	59					0	0	1	0	0	A	66413286	G	A	66413286	3	1	79	1	0	0	0	0	1	0	0	0	3135	1232	43	2	48	2	CDH5	16	66413286	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	18200716	66413286	23941467	342	4363											
CMTM1	113540	broad.mit.edu	37	chr16	66600560	66600560	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcaacatctcagcgaagacCgcaccccggaagcaccccgc	11	2	9	19	5	1	1	1	0	1	1	2	3	1	2	5	1	3	3	5	1	3	0			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:66600560C>T	ENST00000379500.2	+	1	211	c.144C>T	c.(142-144)acC>acT	p.T48T	CMTM1_ENST00000332695.7_Intron|CMTM1_ENST00000528324.1_Intron|CMTM1_ENST00000336328.6_Intron|CMTM1_ENST00000533666.1_Intron|CMTM1_ENST00000535705.1_Intron|CKLF-CMTM1_ENST00000527729.1_Intron|CMTM1_ENST00000533953.1_Silent_p.T48T|CMTM1_ENST00000457188.2_Intron|CMTM1_ENST00000328020.6_Silent_p.T48T|CMTM1_ENST00000531885.1_Intron	NM_052999.3|NM_181268.2	NP_443725.3|NP_851785.2	Q8IZ96	CKLF1_HUMAN	CKLF-like MARVEL transmembrane domain containing 1	0	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)		CAGCGAAGACCGCACCCCGGA	0.632													5	55					0	0	1	0	0	T	66600560	C	T	66600560	2	4	79	1	0	0	0	0	0	0	0	1	3605	639	23	1		1	CMTM1	16	66600560	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	187274	66600560	23754193	343	4364											
FHOD1	29109	broad.mit.edu	37	chr16	67264379	67264379	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcacgggccgcctgcggggtGtagcccaggtagagcaggaa	8	5	17	11	3	1	1	1	0	0	1	1	2	1	2	3	5	3	3	3	5	3	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:67264379G>A	ENST00000258201.4	-	19	3136	c.2889C>T	c.(2887-2889)taC>taT	p.Y963Y	FHOD1_ENST00000567687.1_Silent_p.Y542Y	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	963	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		CCTGCGGGGTGTAGCCCAGGT	0.602													13	79					0	0	1	0	0	A	67264379	G	A	67264379	2	1	79	1	0	0	0	0	0	0	0	1	5915	1372	48	2		2	FHOD1	16	67264379	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	663819	67264379	23090374	344	4365											
SLC9A5	6553	broad.mit.edu	37	chr16	67300093	67300093	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gatcatctttgtggctcgtgCcaccagtgaggttctccaag	7	12	11	11	1	3	1	1	1	2	0	5	2	3	1	3	2	1	2	3	2	1	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:67300093C>T	ENST00000299798.11	+	15	2248	c.2183C>T	c.(2182-2184)gCc>gTc	p.A728V		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	728					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		GTGGCTCGTGCCACCAGTGAG	0.557													7	14					0	0	1	0	0	T	67300093	C	T	67300093	3	4	79	1	0	0	0	0	1	0	0	0	14772	739	26	2	2241	2	SLC9A5	16	67300093	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	35714	67300093	23054660	345	4366											
PLEKHG4	25894	broad.mit.edu	37	chr16	67319227	67319227	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tggcagagatggtggccacgGagcgggagtatgtccgggct	7	7	19	8	3	0	1	0	0	0	1	1	4	1	3	2	6	1	3	2	6	1	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:67319227G>A	ENST00000360461.5	+	13	4765	c.2230G>A	c.(2230-2232)Gag>Aag	p.E744K	PLEKHG4_ENST00000379344.3_Missense_Mutation_p.E744K|PLEKHG4_ENST00000450733.1_Missense_Mutation_p.E663K|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.E744K	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	744	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		GGTGGCCACGGAGCGGGAGTA	0.622													22	28					0	0	1	0	0	A	67319227	G	A	67319227	3	1	79	1	0	0	0	0	1	0	0	0	12119	1175	41	2	2280	2	PLEKHG4	16	67319227	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	19134	67319227	23035526	346	4367											
CENPT	80152	broad.mit.edu	37	chr16	67865241	67865241	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	actgtggctgaagaggtgtgGcaaaggtcaggttgagggat	10	9	18	4	0	1	3	1	2	0	1	1	4	1	4	0	6	0	3	0	6	2	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:67865241G>A	ENST00000562787.1	-	10	1129	c.581C>T	c.(580-582)gCc>gTc	p.A194V	CENPT_ENST00000562947.1_5'UTR|CENPT_ENST00000564817.1_Missense_Mutation_p.A194V|CENPT_ENST00000219172.3_Missense_Mutation_p.A194V|CENPT_ENST00000445712.2_Missense_Mutation_p.A91V|CENPT_ENST00000440851.2_Missense_Mutation_p.A194V	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	194					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		AAGAGGTGTGGCAAAGGTCAG	0.617													17	28					0	0	1	0	0	A	67865241	G	A	67865241	3	1	79	1	0	0	0	0	1	0	0	0	3264	1203	42	2	1132	2	CENPT	16	67865241	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	546014	67865241	22489512	347	4368											
CDH1	999	broad.mit.edu	37	chr16	68844157	68844157	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgaggatccaatggagattTtgatcacggtaaccgatcag	12	11	11	7	2	2	3	2	2	0	1	3	6	3	4	2	3	1	1	2	3	2	4			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:68844157T>G	ENST00000261769.5	+	6	936	c.745T>G	c.(745-747)Ttg>Gtg	p.L249V	CDH1_ENST00000422392.2_Missense_Mutation_p.L249V|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	249	Cadherin 1.				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.?(4)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		AATGGAGATTTTGATCACGGT	0.483			"Mis, N, F, S"		"lobular breast, gastric"	gastric			Hereditary Diffuse Gastric Cancer				38	82					0	0	1	0	0	G	68844157	T	G	68844157	3	3	79	1	0	0	0	0	1	0	0	0	3117	1838	64	5	767	5	CDH1	16	68844157	Missense_Mutation	SNP	T	TCGA-EJ-7782-01A-11D-2114-08	978916	68844157	21510596	348	4369											
TERF2	7014	broad.mit.edu	37	chr16	69400909	69400909	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaccgtcagccggggctgAactttcgttttcatcttttc	5	15	8	13	3	4	1	3	1	1	0	6	1	4	1	2	2	2	2	2	2	1	5			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:69400909A>G	ENST00000254942.3	-	7	1157	c.1141T>C	c.(1141-1143)Tca>Cca	p.S381P	TERF2_ENST00000603068.1_Missense_Mutation_p.S339P	NM_005652.3	NP_005643.2	Q15554	TERF2_HUMAN	telomeric repeat binding factor 2	339					age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of transcription, DNA-dependent|telomeric loop formation	Golgi apparatus|nuclear telomere cap complex|nucleoplasm	double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity			NS(2)|breast(1)|large_intestine(3)|lung(1)	7		Ovarian(137;0.101)				GCCGGGGCTGAACTTTCGTTT	0.517													19	31					0	0	1	0	0	G	69400909	A	G	69400909	3	3	79	1	0	0	0	0	1	0	0	0	15821	246	9	3	503	3	TERF2	16	69400909	Missense_Mutation	SNP	A	TCGA-EJ-7782-01A-11D-2114-08	556752	69400909	20953844	349	4370											
VAC14	55697	broad.mit.edu	37	chr16	70820236	70820236	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcacatgcttgatttgcacgGtattgttctgggccacgaac	8	13	10	10	2	2	1	1	1	1	0	2	2	2	1	1	2	3	4	1	2	2	5			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:70820236G>A	ENST00000261776.5	-	2	397	c.137C>T	c.(136-138)aCc>aTc	p.T46I		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	46					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				GATTTGCACGGTATTGTTCTG	0.642													14	34					0	0	1	0	0	A	70820236	G	A	70820236	3	1	79	1	0	0	0	0	1	0	0	0	17171	1261	44	2	2283	2	VAC14	16	70820236	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	1419327	70820236	19534517	350	4371											
HYDIN	54768	broad.mit.edu	37	chr16	70934964	70934964	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgggctgaaagtacaggtgCaggccgtactcagcctcagg	9	7	15	10	1	2	1	2	1	0	0	2	1	2	1	2	4	4	4	2	4	3	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:70934964C>T	ENST00000393567.2	-	53	9141	c.8991G>A	c.(8989-8991)ctG>ctA	p.L2997L		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2997										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGTACAGGTGCAGGCCGTACT	0.547													18	88					0	0	1	0	0	T	70934964	C	T	70934964	2	4	79	1	0	0	0	0	0	0	0	1	7511	697	25	2		2	HYDIN	16	70934964	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	114728	70934964	19419789	351	4372											
ZFHX3	463	broad.mit.edu	37	chr16	72822112	72822113	+	Frame_Shift_Ins	INS	-	-	C																															agtagggagcctggggacagINSccccatcagggcctgcgaca																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:72822112_72822113insC	ENST00000268489.5	-	10	10734_10735	c.10062_10063insG	c.(10060-10065)ggtgtcfs	p.V3355fs	ZFHX3_ENST00000397992.5_Frame_Shift_Ins_p.V2441fs	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3355					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CCTGGGGACAGCCCCATCAGGG	0.624													23	56	---	---	---	---						C	72822113	-	C	72822112	7	5	79	1	0	1	1	0	0	0	0	0	17692	962	34	0	1052	0	ZFHX3	16	72822112	Frame_Shift_Ins	INS	-	TCGA-EJ-7782-01A-11D-2114-08	1887148	72822112	17532641	352	4373											
ATP2C2	9914	broad.mit.edu	37	chr16	84438757	84438757	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacttacacactgggctgtcGgagttctcggtgacgcagcg	7	9	14	11	4	1	1	0	1	1	0	3	3	1	2	0	3	2	3	0	3	1	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:84438757G>A	ENST00000416219.2	+	3	323	c.234G>A	c.(232-234)tcG>tcA	p.S78S	ATP2C2_ENST00000262429.4_Silent_p.S78S			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	78					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						CTGGGCTGTCGGAGTTCTCGG	0.567													13	34					0	0	1	0	0	A	84438757	G	A	84438757	2	1	79	1	0	0	0	0	0	0	0	1	1143	1103	39	1		1	ATP2C2	16	84438757	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	11616645	84438757	5915996	353	4374											
COTL1	23406	broad.mit.edu	37	chr16	84600556	84600556	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgatcacaaactccttagcGaaattctgcaagaacaaagg	16	8	7	10	1	2	2	1	1	1	1	3	3	3	2	1	1	4	1	1	1	6	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:84600556G>A	ENST00000262428.4	-	4	486	c.324C>T	c.(322-324)ttC>ttT	p.F108F	COTL1_ENST00000564057.1_Silent_p.F39F|COTL1_ENST00000567278.1_5'UTR	NM_021149.2	NP_066972.1	Q14019	COTL1_HUMAN	coactosin-like 1 (Dictyostelium)	108	ADF-H.					cytoplasm|cytoskeleton	actin binding|enzyme binding	p.F108F(1)		endometrium(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	6						ACTCCTTAGCGAAATTCTGCA	0.512													12	36					0	0	1	0	0	A	84600556	G	A	84600556	2	1	79	1	0	0	0	0	0	0	0	1	3784	1049	37	1		1	COTL1	16	84600556	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	161799	84600556	5754197	354	4375											
KLHL36	79786	broad.mit.edu	37	chr16	84690912	84690912	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagcggcttgatgccttcAtcgatggcttcatcctgaac	8	12	9	12	2	3	2	3	2	0	0	5	3	4	2	2	2	3	2	2	2	2	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr16:84690912A>G	ENST00000564996.1	+	3	640	c.499A>G	c.(499-501)Atc>Gtc	p.I167V	KLHL36_ENST00000258157.5_Missense_Mutation_p.I167V	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	167	BACK.									endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TGATGCCTTCATCGATGGCTT	0.567													8	49					0	0	1	0	0	G	84690912	A	G	84690912	3	3	79	1	0	0	0	0	1	0	0	0	8432	217	8	3	505	3	KLHL36	16	84690912	Missense_Mutation	SNP	A	TCGA-EJ-7782-01A-11D-2114-08	90356	84690912	5663841	355	4376											
GEMIN4	50628	broad.mit.edu	37	chr17	650298	650298	+	Frame_Shift_Del	DEL	C	C	-																															gagcacggcctgcaactcctCcccccactcccgcagcaggt																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:650298delC	ENST00000576778.1	-	1	2293	c.952delG	c.(952-954)agfs	p.E319fs	GEMIN4_ENST00000437269.1_3'UTR|GEMIN4_ENST00000319004.5_Frame_Shift_Del_p.E330fs			P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	330					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding	p.E329fs*24(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TGCAACTCCTCCCCCCACTCC	0.627													11	82	---	---	---	---						-	650298	C	-	650298	7	5	79	1	0	1	0	1	0	0	0	0	6372	864	30	0	2195	0	GEMIN4	17	650298	Frame_Shift_Del	DEL	C	TCGA-EJ-7782-01A-11D-2114-08		650298	80544912	356	4377											
SCARF1	8578	broad.mit.edu	37	chr17	1543259	1543259	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcccctgtcacagtatcacaGgacccctgaacacaggtggg	10	7	10	14	0	2	1	2	1	0	0	3	2	3	2	4	3	1	1	4	3	2	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:1543259G>T	ENST00000263071.4	-	6	1135	c.1086C>A	c.(1084-1086)tcC>tcA	p.S362S	SCARF1_ENST00000348987.3_Intron|SCARF1_ENST00000571272.1_Silent_p.S362S	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	362	EGF-like 6.				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CAGTATCACAGGACCCCTGAA	0.642													7	35					2.7689e-08	2.90677e-08	1	1	0	T	1543259	G	T	1543259	2	4	79	1	0	0	0	0	0	0	0	1	13936	987	35	4		4	SCARF1	17	1543259	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	892961	1543259	79651951	357	4378											
HIC1	3090	broad.mit.edu	37	chr17	1961548	1961548	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctacccatgcaccatctgcGggaagaagttcacgcagcgt	10	7	10	14	3	2	1	1	0	1	1	2	2	2	2	3	1	4	3	3	1	3	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:1961548G>A	ENST00000399849.2	+	2	1724	c.1564G>A	c.(1564-1566)Ggg>Agg	p.G522R	HIC1_ENST00000322941.3_Missense_Mutation_p.G541R	NM_006497.3	NP_006488.2	Q14526	HIC1_HUMAN	hypermethylated in cancer 1	541					multicellular organismal development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)|lung(1)|prostate(1)	3				READ - Rectum adenocarcinoma(1115;0.236)		CACCATCTGCGGGAAGAAGTT	0.682													6	13					0	0	1	0	0	A	1961548	G	A	1961548	3	1	79	1	0	0	0	0	1	0	0	0	7142	1116	39	1	1627	1	HIC1	17	1961548	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	418289	1961548	79233662	358	4379											
OR3A1	4994	broad.mit.edu	37	chr17	3195143	3195143	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caaccacagtgaggtgggagCcacatgtggagaaggctttc	11	7	14	9	0	0	2	0	1	0	1	1	4	0	3	2	4	2	1	2	4	2	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:3195143C>T	ENST00000323404.1	-	1	733	c.734G>A	c.(733-735)gGc>gAc	p.G245D	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						GAGGTGGGAGCCACATGTGGA	0.493													23	53					0	0	1	0	0	T	3195143	C	T	3195143	3	4	79	1	0	0	0	0	1	0	0	0	11085	739	26	2	217	2	OR3A1	17	3195143	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	1233595	3195143	78000067	359	4380											
PFN1	5216	broad.mit.edu	37	chr17	4850039	4850041	+	In_Frame_Del	DEL	TTC	TTC	-																															agtcccggatcaccgaacatTtctggcccccaagtgtcagc																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:4850039_4850041delTTC	ENST00000225655.5	-	2	826_828	c.207_209delGAA	c.(205-210)caa>ca	p.QK69del	PFN1_ENST00000574872.1_In_Frame_Del_p.QK33del	NM_005022.3	NP_005013.1	P07737	PROF1_HUMAN	profilin 1	69					actin cytoskeleton organization|platelet activation|platelet degranulation	actin cytoskeleton|cytoplasm	actin binding|proline-rich region binding			NS(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5						CACCGAACATTTCTGGCCCCCAA	0.562													22	67	---	---	---	---						-	4850041	TTC	-	4850039	7	5	79	1	0	1	0	1	0	0	0	0	11815	1841	64	0	221	0	PFN1	17	4850039	In_Frame_Del	DEL	TTC	TCGA-EJ-7782-01A-11D-2114-08	1654896	4850039	76345171	360	4381											
NEURL4	84461	broad.mit.edu	37	chr17	7224437	7224437	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgcagcctcttactcccagGccatgctcctcgccctcgtc	4	10	7	20	2	1	0	0	0	1	0	6	0	3	0	5	1	4	2	5	1	1	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:7224437G>A	ENST00000399464.2	-	20	3369	c.3354C>T	c.(3352-3354)ggC>ggT	p.G1118G	NEURL4_ENST00000570460.1_Silent_p.G1094G|NEURL4_ENST00000315614.7_Silent_p.G1116G	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TTACTCCCAGGCCATGCTCCT	0.612													4	45					0	0	1	0	0	A	7224437	G	A	7224437	2	1	79	1	0	0	0	0	0	0	0	1	10394	1190	42	2		2	NEURL4	17	7224437	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	2374398	7224437	73970773	361	4382											
RCVRN	5957	broad.mit.edu	37	chr17	9804388	9804388	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtctggaaggagcttcacGtcctcgggagtgatcatttt	7	13	12	9	3	3	1	2	1	1	0	6	4	4	4	1	3	1	1	1	3	1	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:9804388G>A	ENST00000226193.5	-	2	851	c.411C>T	c.(409-411)gaC>gaT	p.D137D	RCVRN_ENST00000570909.2_Silent_p.D6D	NM_002903.2	NP_002894.1	P35243	RECO_HUMAN	recoverin	137					visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	12						GGAGCTTCACGTCCTCGGGAG	0.453													12	24					0	0	1	0	0	A	9804388	G	A	9804388	2	1	79	1	0	0	0	0	0	0	0	1	13238	1136	40	1		1	RCVRN	17	9804388	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	2579951	9804388	71390822	362	4383											
MYH2	4620	broad.mit.edu	37	chr17	10448739	10448739	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcctggcgctttttgcctcgGtaggctgtcaccacctcggg	3	12	12	14	3	1	0	1	0	0	0	4	0	2	0	4	4	1	3	4	4	1	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:10448739G>A	ENST00000245503.5	-	5	813	c.429C>T	c.(427-429)taC>taT	p.Y143Y	MYH2_ENST00000532183.1_Silent_p.Y143Y|MYH2_ENST00000397183.2_Silent_p.Y143Y|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	143	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TTTTGCCTCGGTAGGCTGTCA	0.522													43	88					0	0	1	0	0	A	10448739	G	A	10448739	2	1	79	1	0	0	0	0	0	0	0	1	10083	1256	44	2		2	MYH2	17	10448739	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	644351	10448739	70746471	363	4384											
ZNF286A	57335	broad.mit.edu	37	chr17	15619621	15619621	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accataagcatgatgtatacTggaaaagcttcaatcagaaa	18	9	7	7	0	2	2	2	1	0	1	2	3	2	3	1	1	3	3	1	1	7	4			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:15619621T>G	ENST00000464847.2	+	5	1136	c.583T>G	c.(583-585)Tgg>Ggg	p.W195G	ZNF286A_ENST00000472486.1_3'UTR|ZNF286A_ENST00000421016.1_Missense_Mutation_p.W195G|ZNF286A_ENST00000413242.2_Missense_Mutation_p.W195G|ZNF286A_ENST00000395894.2_3'UTR|ZNF286A_ENST00000581529.1_3'UTR|ZNF286A_ENST00000583566.1_Missense_Mutation_p.W195G|ZNF286A_ENST00000593105.1_Missense_Mutation_p.W185G|ZNF286A_ENST00000585171.1_Intron			Q9HBT8	Z286A_HUMAN	zinc finger protein 286A	195					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		TGATGTATACTGGAAAAGCTT	0.378													4	60					0	0	1	0	0	G	15619621	T	G	15619621	3	3	79	1	0	0	0	0	1	0	0	0	17881	1580	55	5	601	5	ZNF286A	17	15619621	Missense_Mutation	SNP	T	TCGA-EJ-7782-01A-11D-2114-08	5170882	15619621	65575589	364	4385											
NCOR1	9611	broad.mit.edu	37	chr17	15965099	15965099	+	Frame_Shift_Del	DEL	G	G	-																															tgttttggacacatccatctGgggtgcagaagctgcagcat																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:15965099delG	ENST00000268712.3	-	37	5754	c.5497delC	c.(5497-5499)agfs	p.Q1833fs	NCOR1_ENST00000395851.1_Frame_Shift_Del_p.Q1849fs|NCOR1_ENST00000395857.3_Frame_Shift_Del_p.Q417fs	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1833	Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		ACATCCATCTGGGGTGCAGAA	0.532													17	56	---	---	---	---						-	15965099	G	-	15965099	7	5	79	1	0	1	0	1	0	0	0	0	10282	1357	47	0	1865	0	NCOR1	17	15965099	Frame_Shift_Del	DEL	G	TCGA-EJ-7782-01A-11D-2114-08	345478	15965099	65230111	365	4386											
KSR1	8844	broad.mit.edu	37	chr17	25944348	25944348	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtcggcctgctgggctttcGacctgcaggagagacccagc	6	8	14	13	2	0	1	0	0	0	1	2	4	0	2	3	3	3	3	3	3	0	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:25944348G>A	ENST00000398988.3	+	21	2621	c.2176G>A	c.(2176-2178)Gac>Aac	p.D726N	KSR1_ENST00000268763.6_Missense_Mutation_p.D726N|KSR1_ENST00000582410.1_Missense_Mutation_p.D77N|KSR1_ENST00000509603.2_Missense_Mutation_p.D841N|KSR1_ENST00000319524.6_Missense_Mutation_p.D863N	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	861	Protein kinase.				Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CTGGGCTTTCGACCTGCAGGA	0.607													4	17					0	0	1	0	0	A	25944348	G	A	25944348	3	1	79	1	0	0	0	0	1	0	0	0	8620	1058	37	1	2242	1	KSR1	17	25944348	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	9979249	25944348	55250862	366	4387											
RFFL	117584	broad.mit.edu	37	chr17	33344575	33344575	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcagcaggtactctggccacGctctccaggtagacgggttc	7	9	12	13	2	3	1	1	0	2	1	5	1	3	1	2	4	2	5	2	4	2	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:33344575G>A	ENST00000315249.7	-	4	864	c.642C>T	c.(640-642)agC>agT	p.S214S	RFFL_ENST00000378516.2_Silent_p.S214S|RFFL_ENST00000268850.7_Intron|RFFL_ENST00000584655.1_Intron|RFFL_ENST00000447669.2_Silent_p.S214S|RFFL_ENST00000415395.2_Silent_p.S214S|RFFL_ENST00000413582.2_Silent_p.S214S|RFFL_ENST00000394597.2_Silent_p.S214S|RAD51L3-RFFL_ENST00000593039.1_Intron			Q8WZ73	RFFL_HUMAN	ring finger and FYVE-like domain containing E3 ubiquitin protein ligase	214					apoptosis	membrane	ligase activity|zinc ion binding			kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		CTCTGGCCACGCTCTCCAGGT	0.527													4	7					0	0	1	0	0	A	33344575	G	A	33344575	2	1	79	1	0	0	0	0	0	0	0	1	13302	1078	38	1		1	RFFL	17	33344575	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	7400227	33344575	47850635	367	4388											
PIGW	284098	broad.mit.edu	37	chr17	34893859	34893859	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctattaaatgccaaccgCgaaggaataatctctaccct	13	10	7	11	2	2	0	0	0	2	0	3	2	2	1	3	2	3	0	3	2	8	4			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:34893859C>T	ENST00000592983.1	+	2	1489	c.909C>T	c.(907-909)cgC>cgT	p.R303R	MYO19_ENST00000590081.1_Intron|PIGW_ENST00000328396.2_Silent_p.R303R			Q7Z7B1	PIGW_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class W	303					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	O-acyltransferase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ATGCCAACCGCGAAGGAATAA	0.428													19	60					0	0	1	0	0	T	34893859	C	T	34893859	2	4	79	1	0	0	0	0	0	0	0	1	11950	755	27	1		1	PIGW	17	34893859	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	1549284	34893859	46301351	368	4389											
CACNB1	782	broad.mit.edu	37	chr17	37331578	37331579	+	Frame_Shift_Del	DEL	AT	AT	-																															ttgtcggtcagctcttcctcAtagtcttcttcctcgtcctc																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:37331578_37331579delAT	ENST00000394303.3	-	14	1871_1872	c.1664_1665delAT	c.(1663-1665)tfs	p.Y555fs	RP5-906A24.2_ENST00000579256.1_RNA	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	555					axon guidance	voltage-gated calcium channel complex				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)	GCTCTTCCTCATAGTCTTCTTC	0.649											OREG0024371	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	204	---	---	---	---						-	37331579	AT	-	37331578	7	5	79	1	0	1	0	1	0	0	0	0	2570	224	8	0	135	0	CACNB1	17	37331578	Frame_Shift_Del	DEL	AT	TCGA-EJ-7782-01A-11D-2114-08	2437719	37331578	43863632	369	4390											
KRT31	3881	broad.mit.edu	37	chr17	39551745	39551745	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accattgctccacttccctgCggttggtttccaccagggcc	5	11	9	16	1	0	0	0	0	0	0	3	0	3	0	6	3	2	3	6	3	0	4			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:39551745C>T	ENST00000251645.2	-	4	771	c.719G>A	c.(718-720)cGc>cAc	p.R240H		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	240	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				CACTTCCCTGCGGTTGGTTTC	0.632													23	57					0	0	1	0	0	T	39551745	C	T	39551745	3	4	79	1	0	0	0	0	1	0	0	0	8510	768	27	1	547	1	KRT31	17	39551745	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	2220167	39551745	41643465	370	4391											
PLEKHM1	9842	broad.mit.edu	37	chr17	43515294	43515294	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcccttcttcaccacaGcctggcagctctggtggaag	7	8	12	14	0	3	0	1	0	2	0	3	1	3	1	3	4	3	3	3	4	1	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:43515294G>A	ENST00000430334.3	-	12	3234	c.3101C>T	c.(3100-3102)gCt>gTt	p.A1034V	PLEKHM1_ENST00000580404.1_5'UTR|PLEKHM1_ENST00000421073.2_Missense_Mutation_p.A945V	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	1034					intracellular signal transduction	cytoplasm	metal ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					CTTCACCACAGCCTGGCAGCT	0.647													4	22					0	0	1	0	0	A	43515294	G	A	43515294	3	1	79	1	0	0	0	0	1	0	0	0	12128	971	34	2	73	2	PLEKHM1	17	43515294	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	3963549	43515294	37679916	371	4392											
COPZ2	51226	broad.mit.edu	37	chr17	46111238	46111238	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggacacttactctcagtccGgctggtcttgttgaagacat	8	12	11	10	1	2	2	1	1	2	1	4	3	3	3	1	3	1	2	1	3	2	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:46111238G>A	ENST00000006101.4	-	4	252	c.253C>T	c.(253-255)Cgg>Tgg	p.R85W	COPZ2_ENST00000584666.1_5'UTR	NM_016429.2	NP_057513.1	Q9P299	COPZ2_HUMAN	coatomer protein complex, subunit zeta 2	87					intracellular protein transport|vesicle-mediated transport	cis-Golgi network|COPI vesicle coat				lung(3)|upper_aerodigestive_tract(1)	4						CTCTCAGTCCGGCTGGTCTTG	0.483													3	13					0	0	1	0	0	A	46111238	G	A	46111238	3	1	79	1	0	0	0	0	1	0	0	0	3765	1115	39	1	401	1	COPZ2	17	46111238	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	2595944	46111238	35083972	372	4393											
SPOP	8405	broad.mit.edu	37	chr17	47677762	47677762	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggattgcttcaggcgtttgCgtgggggtcccagaaaaggg	8	9	17	7	2	1	1	1	0	0	1	2	2	2	2	1	5	2	2	1	5	2	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:47677762C>T	ENST00000393331.3	-	12	1573	c.1103G>A	c.(1102-1104)cGc>cAc	p.R368H	SPOP_ENST00000393328.2_Missense_Mutation_p.R368H|SPOP_ENST00000347630.2_Missense_Mutation_p.R368H|SPOP_ENST00000504102.1_Missense_Mutation_p.R368H|SPOP_ENST00000503676.1_Missense_Mutation_p.R368H	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	368					mRNA processing	nucleus	protein binding			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CAGGCGTTTGCGTGGGGGTCC	0.542										Prostate(2;0.17)			10	162					0	0	1	0	0	T	47677762	C	T	47677762	3	4	79	1	0	0	0	0	1	0	0	0	15140	768	27	1	25	1	SPOP	17	47677762	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	1566524	47677762	33517448	373	4394											
SPOP	8405	broad.mit.edu	37	chr17	47696426	47696426	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctacggatgaatttcttgaAtccccagtctttgccttgca	8	15	7	11	1	3	2	0	2	3	0	4	3	4	3	3	1	3	1	3	1	3	5			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:47696426A>C	ENST00000393331.3	-	7	867	c.397T>G	c.(397-399)Ttc>Gtc	p.F133V	SPOP_ENST00000393328.2_Missense_Mutation_p.F133V|SPOP_ENST00000347630.2_Missense_Mutation_p.F133V|SPOP_ENST00000504102.1_Missense_Mutation_p.F133V|SPOP_ENST00000503676.1_Missense_Mutation_p.F133V	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	133	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.F133V(4)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						AATTTCTTGAATCCCCAGTCT	0.448										Prostate(2;0.17)			35	68					0	0	1	0	0	C	47696426	A	C	47696426	3	2	79	1	0	0	0	0	1	0	0	0	15140	101	4	5	751	5	SPOP	17	47696426	Missense_Mutation	SNP	A	TCGA-EJ-7782-01A-11D-2114-08	18664	47696426	33498784	374	4395											
XYLT2	64132	broad.mit.edu	37	chr17	48437450	48437450	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcggaggaggctgcccagcGgcacacacagctcacaggcc	9	2	14	16	3	1	0	1	0	0	0	1	2	1	2	2	5	3	3	2	5	0	0	rs150470450		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:48437450G>A	ENST00000017003.2	+	11	2445	c.2396G>A	c.(2395-2397)cGg>cAg	p.R799Q	XYLT2_ENST00000507602.1_Intron	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	799					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					GCTGCCCAGCGGCACACACAG	0.652													5	11					0	0	1	0	0	A	48437450	G	A	48437450	3	1	79	1	0	0	0	0	1	0	0	0	17524	1116	39	1	2438	1	XYLT2	17	48437450	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	741024	48437450	32757760	375	4396											
CACNA1G	8913	broad.mit.edu	37	chr17	48703836	48703836	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caaccccacctgggcacagaCccctctaaccttgggggcca	9	5	9	18	0	1	1	0	0	1	1	1	1	1	1	7	3	2	1	7	3	2	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr17:48703836C>T	ENST00000352832.5	+	34	6849	c.6477C>T	c.(6475-6477)gaC>gaT	p.D2159D	CACNA1G_ENST00000502264.1_Silent_p.D2215D|CACNA1G_ENST00000510366.1_Silent_p.D2141D|CACNA1G_ENST00000442258.2_Silent_p.D2152D|CACNA1G_ENST00000354983.4_Silent_p.D2252D|CACNA1G_ENST00000510115.1_Silent_p.D2207D|CACNA1G_ENST00000515165.1_Silent_p.D2193D|CACNA1G_ENST00000507896.1_Silent_p.D2103D|CACNA1G_ENST00000514717.1_Silent_p.D2136D|CACNA1G_ENST00000429973.2_Silent_p.D2175D|CACNA1G_ENST00000507510.2_Silent_p.D2241D|CACNA1G_ENST00000514181.1_Silent_p.D2168D|CACNA1G_ENST00000507609.1_Silent_p.D2186D|CACNA1G_ENST00000507336.1_Silent_p.D2275D|CACNA1G_ENST00000514079.1_Silent_p.D2200D|CACNA1G_ENST00000513689.2_Silent_p.D2196D|CACNA1G_ENST00000505165.1_Silent_p.D2114D|CACNA1G_ENST00000515765.1_Silent_p.D2230D|CACNA1G_ENST00000360761.4_Silent_p.D2170D|CACNA1G_ENST00000358244.5_Silent_p.D2080D|CACNA1G_ENST00000503485.1_Silent_p.D2159D|CACNA1G_ENST00000513964.1_Silent_p.D2148D|CACNA1G_ENST00000512389.1_Silent_p.D2182D|CACNA1G_ENST00000359106.5_Silent_p.D2286D|CACNA1G_ENST00000515411.1_Silent_p.D2223D	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	2286					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TGGGCACAGACCCCTCTAACC	0.657											OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	9					0	0	1	0	0	T	48703836	C	T	48703836	2	4	79	1	0	0	0	0	0	0	0	1	2562	506	18	2		2	CACNA1G	17	48703836	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	266386	48703836	32491374	376	4397											
AKAP1	8165	broad.mit.edu	37	chr17	55183676	55183676	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagctggcaaaggacgatgCggcgccagcacccccagtcg	10	3	14	14	4	0	1	0	0	0	1	1	3	0	2	3	3	3	3	3	3	1	0			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:55183676C>T	ENST00000337714.3	+	2	1084	c.851C>T	c.(850-852)gCg>gTg	p.A284V	AKAP1_ENST00000571629.1_Missense_Mutation_p.A284V|AKAP1_ENST00000314126.3_Missense_Mutation_p.A284V|AKAP1_ENST00000572557.1_Missense_Mutation_p.A284V|AKAP1_ENST00000539273.1_Missense_Mutation_p.A284V	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	284					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					AAGGACGATGCGGCGCCAGCA	0.582													16	71					0	0	1	0	0	T	55183676	C	T	55183676	3	4	79	1	0	0	0	0	1	0	0	0	442	768	27	1	853	1	AKAP1	17	55183676	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	6479840	55183676	26011534	377	4398											
RNF43	54894	broad.mit.edu	37	chr17	56435189	56435189	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttttcctctgtgggtgtcGggcagagaggctggattttt	4	15	14	8	1	1	1	0	0	1	1	3	3	2	2	2	4	0	2	2	4	0	4			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:56435189G>A	ENST00000584437.1	-	8	3903	c.1948C>T	c.(1948-1950)Cga>Tga	p.R650*	RNF43_ENST00000407977.2_Nonsense_Mutation_p.R650*|RNF43_ENST00000577625.1_Nonsense_Mutation_p.R523*|RNF43_ENST00000577716.1_Nonsense_Mutation_p.R650*|RNF43_ENST00000583753.1_Nonsense_Mutation_p.R609*|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000500597.2_Nonsense_Mutation_p.R609*|RNF43_ENST00000581868.1_Nonsense_Mutation_p.R523*			Q68DV7	RNF43_HUMAN	ring finger protein 43	650	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.R650*(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGTGGGTGTCGGGCAGAGAGG	0.637													32	72					0	0	1	0	0	A	56435189	G	A	56435189	4	1	79	1	0	0	0	0	0	1	0	0	13547	1124	39	1	411	1	RNF43	17	56435189	Nonsense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	1251513	56435189	24760021	378	4399											
LIMD2	80774	broad.mit.edu	37	chr17	61776417	61776417	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaccgtgctgctgccgcCgcctttggcgtcctgaggga	3	9	14	15	4	0	1	0	1	0	0	1	2	1	2	5	2	4	3	5	2	0	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:61776417C>T	ENST00000259006.3	-	3	213	c.55G>A	c.(55-57)Ggc>Agc	p.G19S	LIMD2_ENST00000583211.1_5'UTR|LIMD2_ENST00000578993.1_Missense_Mutation_p.G19S|LIMD2_ENST00000578061.1_Missense_Mutation_p.G19S|LIMD2_ENST00000582055.1_5'UTR|LIMD2_ENST00000578402.1_Missense_Mutation_p.G19S	NM_030576.3	NP_085053.1	Q9BT23	LIMD2_HUMAN	LIM domain containing 2	19							zinc ion binding			kidney(1)|lung(2)	3						CTGCTGCCGCCGCCTTTGGCG	0.736													3	16					0	0	1	0	0	T	61776417	C	T	61776417	3	4	79	1	0	0	0	0	1	0	0	0	8839	652	23	1	340	1	LIMD2	17	61776417	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	5341228	61776417	19418793	379	4400											
POLG2	11232	broad.mit.edu	37	chr17	62492847	62492847	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaagctgctgcttgcttccActtaggaaatgccttctctg	7	14	8	12	0	1	0	0	0	1	0	3	1	2	1	2	1	5	4	2	1	3	5			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:62492847A>G	ENST00000539111.2	-	1	307	c.240T>C	c.(238-240)agT>agC	p.S80S		NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	polymerase (DNA directed), gamma 2, accessory subunit	80					DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			GCTTGCTTCCACTTAGGAAAT	0.612													22	62					0	0	1	0	0	G	62492847	A	G	62492847	2	3	79	1	0	0	0	0	0	0	0	1	12249	156	6	3		3	POLG2	17	62492847	Silent	SNP	A	TCGA-EJ-7782-01A-11D-2114-08	716430	62492847	18702363	380	4401											
FDXR	2232	broad.mit.edu	37	chr17	72860461	72860461	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtcagccgcttcctcgggcGggggacctctgtcagcaacg	5	7	14	15	5	3	0	2	0	1	0	5	1	4	1	3	3	3	2	3	3	1	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:72860461G>A	ENST00000455107.2	-	10	1095	c.679C>T	c.(679-681)Cgc>Tgc	p.R227C	FDXR_ENST00000582944.1_Missense_Mutation_p.R263C|FDXR_ENST00000544854.1_Missense_Mutation_p.R219C|FDXR_ENST00000442102.2_Missense_Mutation_p.R314C|FDXR_ENST00000413947.2_Missense_Mutation_p.R302C|FDXR_ENST00000420580.2_Missense_Mutation_p.R231C|FDXR_ENST00000581530.1_Missense_Mutation_p.R277C|FDXR_ENST00000293195.5_Missense_Mutation_p.R271C|FDXR_ENST00000583917.1_Missense_Mutation_p.R243C			P22570	ADRO_HUMAN	ferredoxin reductase	271					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)					TTCCTCGGGCGGGGGACCTCT	0.687											OREG0024720	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	22					0	0	1	0	0	A	72860461	G	A	72860461	3	1	79	1	0	0	0	0	1	0	0	0	5840	1116	39	1	680	1	FDXR	17	72860461	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	10367614	72860461	8334749	381	4402											
ATP5H	10476	broad.mit.edu	37	chr17	73035039	73035039	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcaattttataaattctcAattggttggtgaggccaata	13	15	7	6	0	2	1	2	1	1	0	3	1	2	1	1	3	0	1	1	3	7	7			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:73035039A>G	ENST00000301587.4	-	6	521	c.474T>C	c.(472-474)atT>atC	p.I158I	KCTD2_ENST00000584767.1_Intron|KCTD2_ENST00000581589.1_Intron|ATP5H_ENST00000344546.4_Silent_p.I134I	NM_006356.2	NP_006347.1	O75947	ATP5H_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d	158					ATP catabolic process|respiratory electron transport chain	mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity			lung(1)|skin(1)	2	all_lung(278;0.226)					ATAAATTCTCAATTGGTTGGT	0.368													17	42					0	0	1	0	0	G	73035039	A	G	73035039	2	3	79	1	0	0	0	0	0	0	0	1	1155	126	5	3		3	ATP5H	17	73035039	Silent	SNP	A	TCGA-EJ-7782-01A-11D-2114-08	174578	73035039	8160171	382	4403											
EVPL	2125	broad.mit.edu	37	chr17	74013981	74013981	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgggttggccaggtctgAgccagatggagctgggggca	6	8	19	8	0	1	2	0	1	1	1	1	3	1	3	2	6	2	3	2	6	0	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:74013981A>C	ENST00000301607.3	-	14	1802	c.1549T>G	c.(1549-1551)Tca>Gca	p.S517A	EVPL_ENST00000586740.1_Missense_Mutation_p.S539A	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	517	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GCCAGGTCTGAGCCAGATGGA	0.657													10	19					0	0	1	0	0	C	74013981	A	C	74013981	3	2	79	1	0	0	0	0	1	0	0	0	5320	304	11	5	4588	5	EVPL	17	74013981	Missense_Mutation	SNP	A	TCGA-EJ-7782-01A-11D-2114-08	978942	74013981	7181229	383	4404											
RHBDF2	79651	broad.mit.edu	37	chr17	74467835	74467835	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacagccacagcacgagggcGgcgaagaggccggcaaaggc	12	1	16	12	4	0	1	0	0	0	1	0	3	0	1	2	5	3	2	2	5	3	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:74467835G>A	ENST00000591885.1	-	19	2914	c.2364C>T	c.(2362-2364)gcC>gcT	p.A788A	RHBDF2_ENST00000389760.4_Silent_p.A788A|RHBDF2_ENST00000313080.4_Silent_p.A817A			Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	817					negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						GCACGAGGGCGGCGAAGAGGC	0.612													3	8					0	0	1	0	0	A	74467835	G	A	74467835	2	1	79	1	0	0	0	0	0	0	0	1	13370	1103	39	1		1	RHBDF2	17	74467835	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	453854	74467835	6727375	384	4405											
ENGASE	64772	broad.mit.edu	37	chr17	77079175	77079177	+	In_Frame_Del	DEL	AGA	AGA	-																															ctgggtgtatgagtgtctggAgaagaaggatttcttccaga																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:77079175_77079177delAGA	ENST00000579016.1	+	8	1112_1114	c.1112_1114delAGA	c.(1111-1116)gag>g	p.EK371del	ENGASE_ENST00000584568.1_3'UTR	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	371	BRCT.					cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						GAGTGTCTGGAGAAGAAGGATTT	0.562											OREG0024792	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	67	---	---	---	---						-	77079177	AGA	-	77079175	7	5	79	1	0	1	0	1	0	0	0	0	5146	304	11	0	1142	0	ENGASE	17	77079175	In_Frame_Del	DEL	AGA	TCGA-EJ-7782-01A-11D-2114-08	2611340	77079175	4116035	385	4406											
SLC38A10	124565	broad.mit.edu	37	chr17	79225307	79225307	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccttaccctccagctggctgGccgcctggtttccacccgct	3	10	9	19	2	0	0	0	0	0	0	2	0	2	0	7	3	2	4	7	3	1	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:79225307G>A	ENST00000374759.3	-	14	2434	c.2051C>T	c.(2050-2052)gCc>gTc	p.A684V	SLC38A10_ENST00000288439.5_Missense_Mutation_p.A684V	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	684					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CAGCTGGCTGGCCGCCTGGTT	0.736													3	12					0	0	1	0	0	A	79225307	G	A	79225307	3	1	79	1	0	0	0	0	1	0	0	0	14657	1203	42	2	1598	2	SLC38A10	17	79225307	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	2146132	79225307	1969903	386	4407											
DUS1L	64118	broad.mit.edu	37	chr17	80016030	80016030	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgacttcggagaagccaccTggtgttccaggtgctgctgg	7	10	14	10	1	0	2	0	1	0	1	2	3	1	2	3	4	3	3	3	4	1	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:80016030T>G	ENST00000354321.7	-	13	1868	c.1383A>C	c.(1381-1383)ccA>ccC	p.P461P	DUS1L_ENST00000306796.5_Silent_p.P461P			Q6P1R4	DUS1L_HUMAN	dihydrouridine synthase 1-like (S. cerevisiae)	461					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			AGAAGCCACCTGGTGTTCCAG	0.582													12	39					0	0	1	0	0	G	80016030	T	G	80016030	2	3	79	1	0	0	0	0	0	0	0	1	4831	1567	55	5		5	DUS1L	17	80016030	Silent	SNP	T	TCGA-EJ-7782-01A-11D-2114-08	790723	80016030	1179180	387	4408											
ZNF750	79755	broad.mit.edu	37	chr17	80788498	80788498	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgaccggggaaggcaggcctCggagcctgggtgttacaggg	7	5	19	10	3	0	0	0	0	0	0	1	3	0	2	3	7	2	2	3	7	2	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr17:80788498C>T	ENST00000269394.3	-	3	2525	c.1692G>A	c.(1690-1692)ccG>ccA	p.P564P	ZNF750_ENST00000572562.1_Silent_p.P165P|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000397466.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	564						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGGCAGGCCTCGGAGCCTGGG	0.627													14	75					0	0	1	0	0	T	80788498	C	T	80788498	2	4	79	1	0	0	0	0	0	0	0	1	18182	871	31	1		1	ZNF750	17	80788498	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	772468	80788498	406712	388	4409											
MYL12B	103910	broad.mit.edu	37	chr18	3272921	3272921	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagcaaaaaggcaaagaccAagaccaccaagaagcgccct	18	1	9	13	2	0	3	0	0	0	3	0	4	0	3	4	1	2	2	4	1	6	0			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr18:3272921A>G	ENST00000581193.1	+	2	408	c.25A>G	c.(25-27)Aag>Gag	p.K9E	MYL12B_ENST00000400175.5_Missense_Mutation_p.K9E|MYL12B_ENST00000237500.5_Missense_Mutation_p.K9E|MYL12B_ENST00000584539.1_Missense_Mutation_p.K9E	NM_001144945.1	NP_001138417.1	O14950	ML12B_HUMAN	myosin, light chain 12B, regulatory	9					axon guidance|muscle contraction	cytosol|myosin complex	calcium ion binding			breast(1)|large_intestine(1)|lung(2)	4						GGCAAAGACCAAGACCACCAA	0.388													29	73					0	0	1	0	0	G	3272921	A	G	3272921	3	3	79	1	0	0	0	0	1	0	0	0	10094	131	5	3	27	3	MYL12B	18	3272921	Missense_Mutation	SNP	A	TCGA-EJ-7782-01A-11D-2114-08		3272921	74804327	389	4410											
CABLES1	91768	broad.mit.edu	37	chr18	20768869	20768869	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaggagaacgcccctctcCggaggtaattttctgtttca	8	13	10	10	2	3	2	1	1	2	1	4	4	3	3	3	3	1	2	3	3	2	5			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr18:20768869C>T	ENST00000256925.7	+	2	913	c.913C>T	c.(913-915)Cgg>Tgg	p.R305W	CABLES1_ENST00000400473.2_5'UTR|CABLES1_ENST00000420687.2_Missense_Mutation_p.R40W|CABLES1_ENST00000585061.1_3'UTR	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1	305	Interacts with CDK3 (By similarity).				blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CGCCCCTCTCCGGAGGTAATT	0.398													5	15					0	0	1	0	0	T	20768869	C	T	20768869	3	4	79	1	0	0	0	0	1	0	0	0	2547	643	23	1	973	1	CABLES1	18	20768869	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	17495948	20768869	57308379	390	4411											
SLC14A2	8170	broad.mit.edu	37	chr18	43248313	43248313	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaccctccctctcctgccaGgtcggccatcgctgcaggat	5	9	10	17	2	1	1	0	1	1	0	5	2	2	2	5	3	2	2	5	3	0	0			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr18:43248313G>A	ENST00000255226.6	+	15	2723		c.e15-1		SLC14A2_ENST00000589658.1_Splice_Site|SLC14A2_ENST00000586448.1_Splice_Site	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2							apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCTCCTGCCAGGTCGGCCATC	0.562													13	21					0	0	1	0	0	A	43248313	G	A	43248313	5	1	79	1	0	0	0	0	0	0	1	0	14452	1014	35	2	1961	2	SLC14A2	18	43248313	Splice_Site	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	22479444	43248313	34828935	391	4412											
ZCCHC2	54877	broad.mit.edu	37	chr18	60241837	60241837	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccacccggaagcctgagcatCgcatcaccaaacactgcctt	11	6	7	17	2	1	1	1	1	0	0	2	2	1	2	5	1	4	2	5	1	2	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr18:60241837C>T	ENST00000269499.5	+	13	2941	c.2523C>T	c.(2521-2523)atC>atT	p.I841I	ZCCHC2_ENST00000586834.1_Silent_p.I520I	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	841					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						GCCTGAGCATCGCATCACCAA	0.507													25	47					0	0	1	0	0	T	60241837	C	T	60241837	2	4	79	1	0	0	0	0	0	0	0	1	17645	874	31	1		1	ZCCHC2	18	60241837	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	16993524	60241837	17835411	392	4413											
TMX3	54495	broad.mit.edu	37	chr18	66344197	66344197	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcttttctaatacatcCttgggctcctgcactgtagg	6	17	7	11	0	3	0	0	0	3	0	5	0	5	0	2	2	2	3	2	2	3	8			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr18:66344197C>A	ENST00000299608.2	-	16	1654	c.1338G>T	c.(1336-1338)aaG>aaT	p.K446N		NM_019022.3	NP_061895.3	Q96JJ7	TMX3_HUMAN	thioredoxin-related transmembrane protein 3	446					cell redox homeostasis|glycerol ether metabolic process	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						CTAATACATCCTTGGGCTCCT	0.353													7	74					2.0095e-06	2.09219e-06	1	1	0	A	66344197	C	A	66344197	3	1	79	1	0	0	0	0	1	0	0	0	16328	680	24	4	30	4	TMX3	18	66344197	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	6102360	66344197	11733051	393	4414											
GPX4	2879	broad.mit.edu	37	chr19	1106407	1106407	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtctctccacagttcctcatCgacaagaacggctgcgtggt	8	10	10	13	3	2	1	1	0	1	1	6	2	4	1	2	2	2	2	2	2	2	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:1106407C>T	ENST00000589115.1	+	5	521	c.485C>T	c.(484-486)tCg>tTg	p.S162L	GPX4_ENST00000354171.8_Silent_p.I170I			P36969	GPX4_HUMAN	glutathione peroxidase 4	0					multicellular organismal development|phospholipid metabolic process		glutathione peroxidase activity|phospholipid-hydroperoxide glutathione peroxidase activity			endometrium(1)|kidney(2)	3		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Glutathione(DB00143)	AGTTCCTCATCGACAAGAACG	0.652													10	36					0	0	1	0	0	T	1106407	C	T	1106407	3	4	79	1	0	0	0	0	1	0	0	0	6783	876	31	1	753	1	GPX4	19	1106407	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08		1106407	58022576	394	4415											
CIRBP	1153	broad.mit.edu	37	chr19	1271165	1271165	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgaaagacagggagaccCagagatctcggggatttggg	11	8	16	6	1	1	4	0	1	1	3	2	7	1	5	1	4	0	0	1	4	1	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:1271165C>T	ENST00000589710.1	+	3	277	c.130C>T	c.(130-132)Cag>Tag	p.Q44*	CIRBP_ENST00000588090.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000587896.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000587323.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000586773.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000589235.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000591935.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000444172.2_Intron|CIRBP_ENST00000585630.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000586472.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000320936.5_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000589660.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000413636.2_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000589686.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000588230.1_Nonsense_Mutation_p.Q44*|CIRBP_ENST00000588030.1_Nonsense_Mutation_p.Q44*			Q14011	CIRBP_HUMAN	cold inducible RNA binding protein	44	RRM.				mRNA stabilization|positive regulation of translation|response to cold|response to UV|stress granule assembly	nucleoplasm|stress granule	mRNA 3'-UTR binding|nucleotide binding|protein binding|SSU rRNA binding|translation repressor activity			endometrium(1)|large_intestine(1)|lung(3)	5		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000332)|all_lung(49;0.000498)|Breast(49;0.0014)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGGAGACCCAGAGATCTCG	0.567													19	43					0	0	1	0	0	T	1271165	C	T	1271165	4	4	79	1	0	0	0	0	0	1	0	0	3455	595	21	2	136	2	CIRBP	19	1271165	Nonsense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	164758	1271165	57857818	395	4416											
PCSK4	54760	broad.mit.edu	37	chr19	1482438	1482438	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgctgtcatgtcctcggccGtcccatagagcagcagcgtg	6	8	13	14	4	1	1	1	0	0	1	4	1	3	1	3	1	3	3	3	1	1	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:1482438G>A	ENST00000300954.5	-	14	1794	c.1733C>T	c.(1732-1734)aCg>aTg	p.T578M		NM_017573.3	NP_060043.2	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	578					proteolysis	integral to membrane	serine-type endopeptidase activity			cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCCTCGGCCGTCCCATAGAG	0.682													13	18					0	0	1	0	0	A	1482438	G	A	1482438	3	1	79	1	0	0	0	0	1	0	0	0	11649	1145	40	1	542	1	PCSK4	19	1482438	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	211273	1482438	57646545	396	4417											
DOT1L	84444	broad.mit.edu	37	chr19	2222180	2222180	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttcctgcctctcccgcccaCcagctctcctccagtccccg	3	9	5	24	2	2	0	0	0	2	0	7	0	5	0	9	0	2	1	9	0	0	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:2222180C>T	ENST00000398665.3	+	24	3048	c.3012C>T	c.(3010-3012)caC>caT	p.H1004H		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1004						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCCGCCCACCAGCTCTCCT	0.701													12	16					0	0	1	0	0	T	2222180	C	T	2222180	2	4	79	1	0	0	0	0	0	0	0	1	4736	506	18	2		2	DOT1L	19	2222180	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	739742	2222180	56906803	397	4418											
MUC16	94025	broad.mit.edu	37	chr19	9058758	9058758	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccagaggagccaggcattGttgtggaaaccatgttgtct	9	11	13	8	0	1	1	0	0	1	1	1	3	1	3	3	3	3	3	3	3	1	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:9058758G>C	ENST00000397910.4	-	3	28891	c.28688C>G	c.(28687-28689)aCa>aGa	p.T9563R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9565	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCCAGGCATTGTTGTGGAAAC	0.493													31	34					0	0	1	0	0	C	9058758	G	C	9058758	3	2	79	1	0	0	0	0	1	0	0	0	10021	1377	48	4	15163	4	MUC16	19	9058758	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	6836578	9058758	50070225	398	4419											
ICAM3	3385	broad.mit.edu	37	chr19	10446010	10446011	+	Frame_Shift_Ins	INS	-	-	G																															accggggggccacgaggcgcINSgggggggtcacgggcaggac																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:10446010_10446011insG	ENST00000589261.1	-	4	969_970	c.437_438insC	c.(436-438)ccgfs	p.P146fs	ICAM3_ENST00000160262.5_Frame_Shift_Ins_p.P223fs			P32942	ICAM3_HUMAN	intercellular adhesion molecule 3	223	Ig-like C2-type 2.				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			CCACGAGGCGCGGGGGGGTCAC	0.649													9	18	---	---	---	---						G	10446011	-	G	10446010	7	5	79	1	0	1	1	0	0	0	0	0	7525	755	27	0	990	0	ICAM3	19	10446010	Frame_Shift_Ins	INS	-	TCGA-EJ-7782-01A-11D-2114-08	1387252	10446010	48682973	399	4420											
PDE4A	5141	broad.mit.edu	37	chr19	10578250	10578250	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catttggggaggacacatccGcactcccagctcctggtggc	7	8	12	14	1	0	0	0	0	0	0	3	2	3	2	3	5	1	2	3	5	0	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:10578250G>A	ENST00000380702.2	+	16	2548	c.2548G>A	c.(2548-2550)Gca>Aca	p.A850T	PDE4A_ENST00000440014.2_Missense_Mutation_p.A811T|PDE4A_ENST00000352831.6_Missense_Mutation_p.A872T|PDE4A_ENST00000344979.3_Missense_Mutation_p.A633T|PDE4A_ENST00000293683.5_Missense_Mutation_p.A846T|PDE4A_ENST00000592685.1_Missense_Mutation_p.A850T			P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	872					signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	GGACACATCCGCACTCCCAGC	0.677													5	52					0	0	1	0	0	A	10578250	G	A	10578250	3	1	79	1	0	0	0	0	1	0	0	0	11686	1087	38	1	3129	1	PDE4A	19	10578250	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	132240	10578250	48550733	400	4421											
ZNF44	51710	broad.mit.edu	37	chr19	12383898	12383898	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atactgtgcatttatgagggCcatctccagtgtgtgccatc	8	13	10	10	0	1	1	0	1	1	0	3	1	1	1	3	1	3	1	3	1	2	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:12383898C>T	ENST00000356109.5	-	5	1434	c.1316G>A	c.(1315-1317)gGc>gAc	p.G439D	ZNF44_ENST00000355684.5_Missense_Mutation_p.G391D	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	439					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		TTTATGAGGGCCATCTCCAGT	0.428													31	68					0	0	1	0	0	T	12383898	C	T	12383898	3	4	79	1	0	0	0	0	1	0	0	0	17969	739	26	2	679	2	ZNF44	19	12383898	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	1805648	12383898	46745085	401	4422											
CACNA1A	773	broad.mit.edu	37	chr19	13325397	13325397	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctccttccgcagctcagcGtccatctgctgtttgtcggc	4	13	9	15	3	3	0	1	0	2	0	7	0	5	0	3	1	3	4	3	1	0	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:13325397G>A	ENST00000360228.5	-	39	5756	c.5757C>T	c.(5755-5757)gaC>gaT	p.D1919D	CACNA1A_ENST00000573710.2_Silent_p.D1920D	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1920					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GCAGCTCAGCGTCCATCTGCT	0.582													9	14					0	0	1	0	0	A	13325397	G	A	13325397	2	1	79	1	0	0	0	0	0	0	0	1	2556	1136	40	1		1	CACNA1A	19	13325397	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	941499	13325397	45803586	402	4423											
CC2D1A	54862	broad.mit.edu	37	chr19	14020732	14020732	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgagttcttggctttggtcGggggccagcccccagccctg	3	10	14	14	1	1	1	0	1	1	0	2	1	1	1	4	4	2	2	4	4	0	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:14020732G>A	ENST00000318003.7	+	2	398	c.157G>A	c.(157-159)Ggg>Agg	p.G53R	CC2D1A_ENST00000589606.1_Missense_Mutation_p.G53R	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	53					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			GGCTTTGGTCGGGGGCCAGCC	0.577													11	30					0	0	1	0	0	A	14020732	G	A	14020732	3	1	79	1	0	0	0	0	1	0	0	0	2744	1116	39	1	163	1	CC2D1A	19	14020732	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	695335	14020732	45108251	403	4424											
DCAF15	90379	broad.mit.edu	37	chr19	14070466	14070466	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgcaacctgcggcccatgcGggagcggactgctgtccagg	6	5	15	15	4	0	0	0	0	0	0	1	2	1	2	4	4	5	2	4	4	1	0			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:14070466G>A	ENST00000254337.6	+	8	1313	c.1292G>A	c.(1291-1293)cGg>cAg	p.R431Q		NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	431										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						CGGCCCATGCGGGAGCGGACT	0.692											OREG0025301	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	52					0	0	1	0	0	A	14070466	G	A	14070466	3	1	79	1	0	0	0	0	1	0	0	0	4291	1116	39	1	1322	1	DCAF15	19	14070466	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	49734	14070466	45058517	404	4425											
CD97	976	broad.mit.edu	37	chr19	14517970	14517970	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcggagcttggtgctgaccTatgtgtttaccatcctcaac	8	13	9	11	1	1	1	1	1	0	0	3	2	2	2	3	2	4	3	3	2	3	4			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:14517970T>C	ENST00000242786.5	+	18	2385	c.2305T>C	c.(2305-2307)Tat>Cat	p.Y769H	CD97_ENST00000358600.3_Missense_Mutation_p.Y676H|CD97_ENST00000357355.3_Missense_Mutation_p.Y720H|CTC-548K16.5_ENST00000590626.1_RNA	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	769					cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GGTGCTGACCTATGTGTTTAC	0.617													9	86					0	0	1	0	0	C	14517970	T	C	14517970	3	2	79	1	0	0	0	0	1	0	0	0	3071	1522	53	3	2375	3	CD97	19	14517970	Missense_Mutation	SNP	T	TCGA-EJ-7782-01A-11D-2114-08	447504	14517970	44611013	405	4426											
ILVBL	10994	broad.mit.edu	37	chr19	15233586	15233587	+	Frame_Shift_Del	DEL	CG	CG	-																															catgaagtaggggtacagcaCgtcaacgggcagctccacaa																								rs114838237	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:15233586_15233587delCG	ENST00000263383.3	-	6	772_773	c.633_634delCG	c.(631-636)gatgfs	p.DV211fs	ILVBL_ENST00000531635.1_5'UTR|ILVBL_ENST00000534378.1_Frame_Shift_Del_p.DV104fs	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	211						integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						GGGTACAGCACGTCAACGGGCA	0.629													28	37	---	---	---	---						-	15233587	CG	-	15233586	7	5	79	1	0	1	0	1	0	0	0	0	7759	536	19	0	1308	0	ILVBL	19	15233586	Frame_Shift_Del	DEL	CG	TCGA-EJ-7782-01A-11D-2114-08	715616	15233586	43895397	406	4427											
C19orf44	84167	broad.mit.edu	37	chr19	16625316	16625316	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagctgggtcagccctgaccGcttacagcccggccgtgctg	5	7	14	15	3	1	1	1	1	0	0	1	2	1	1	4	2	5	3	4	2	1	1	rs111870653		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:16625316G>A	ENST00000221671.3	+	7	1900	c.1744G>A	c.(1744-1746)Gct>Act	p.A582T	CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Missense_Mutation_p.A550T	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	582										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						AGCCCTGACCGCTTACAGCCC	0.672													4	12					0	0	1	0	0	A	16625316	G	A	16625316	3	1	79	1	0	0	0	0	1	0	0	0	1939	1087	38	1	1766	1	C19orf44	19	16625316	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	1391730	16625316	42503667	407	4428											
MYO9B	4650	broad.mit.edu	37	chr19	17305687	17305687	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgggagaagcgtgagtcgCgtcggcaaagagggctggag	9	4	20	8	5	0	3	0	1	0	2	2	5	0	4	1	4	1	2	1	4	2	0			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:17305687C>T	ENST00000595618.1	+	22	3603	c.3451C>T	c.(3451-3453)Cgt>Tgt	p.R1151C	MYO9B_ENST00000594824.1_Missense_Mutation_p.R1151C|MYO9B_ENST00000397274.2_Missense_Mutation_p.R1151C	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	1151	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GCGTGAGTCGCGTCGGCAAAG	0.592													19	35					0	0	1	0	0	T	17305687	C	T	17305687	3	4	79	1	0	0	0	0	1	0	0	0	10133	768	27	1	3533	1	MYO9B	19	17305687	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	680371	17305687	41823296	408	4429											
GMIP	51291	broad.mit.edu	37	chr19	19748735	19748735	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggatgggcctcacccgcctCagcacttcatccccctgaaa	8	7	9	17	1	3	1	3	1	0	0	4	2	4	2	5	2	1	1	5	2	1	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:19748735C>A	ENST00000203556.4	-	10	1058	c.921G>T	c.(919-921)ctG>ctT	p.L307L	GMIP_ENST00000587238.1_Silent_p.L307L|GMIP_ENST00000445806.2_Silent_p.L307L	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	307					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TCACCCGCCTCAGCACTTCAT	0.672													8	15					2.17888e-05	2.25002e-05	1	1	0	A	19748735	C	A	19748735	2	1	79	1	0	0	0	0	0	0	0	1	6533	813	29	4		4	GMIP	19	19748735	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	2443048	19748735	39380248	409	4430											
GPATCH1	55094	broad.mit.edu	37	chr19	33608948	33608948	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aacatcatctgtggctcacgGtatgtcagtatttcagactc	10	13	8	10	1	5	1	4	0	1	1	6	1	5	1	0	2	1	3	0	2	3	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:33608948G>A	ENST00000170564.2	+	16	2727		c.e16+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)					GTGGCTCACGGTATGTCAGTA	0.478													7	20					0	0	1	0	0	A	33608948	G	A	33608948	5	1	79	1	0	0	0	0	0	0	1	0	6630	1275	44	2	2476	2	GPATCH1	19	33608948	Splice_Site	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	13860213	33608948	25520035	410	4431											
LRP3	4037	broad.mit.edu	37	chr19	33697253	33697253	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcaagctctactcactgcGcacgcaggaatacaggtggg	10	8	11	12	2	3	0	2	0	1	0	3	1	3	1	0	3	4	3	0	3	4	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:33697253G>A	ENST00000253193.7	+	5	1779	c.1577G>A	c.(1576-1578)cGc>cAc	p.R526H		NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	526					receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					TACTCACTGCGCACGCAGGAA	0.657													8	17					0	0	1	0	0	A	33697253	G	A	33697253	3	1	79	1	0	0	0	0	1	0	0	0	9003	1087	38	1	1595	1	LRP3	19	33697253	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	88305	33697253	25431730	411	4432											
APLP1	333	broad.mit.edu	37	chr19	36363411	36363411	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaccccgaggcccacagacGgtgtggatatttactttggc	8	9	11	13	2	0	1	0	0	0	1	0	3	0	2	4	4	1	0	4	4	2	4			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:36363411G>A	ENST00000221891.4	+	7	1069	c.877G>A	c.(877-879)Ggt>Agt	p.G293S	APLP1_ENST00000537454.2_Missense_Mutation_p.G254S|APLP1_ENST00000586861.1_Missense_Mutation_p.G287S	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	293					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCCCACAGACGGTGTGGATAT	0.567													26	87					0	0	1	0	0	A	36363411	G	A	36363411	3	1	79	1	0	0	0	0	1	0	0	0	775	1116	39	1	903	1	APLP1	19	36363411	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	2666158	36363411	22765572	412	4433											
RYR1	6261	broad.mit.edu	37	chr19	38937375	38937375	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctgtgtgcactcatgcccGctccctctggaggctggagc	5	9	13	14	1	2	0	1	0	1	0	3	2	3	2	2	3	4	4	2	3	0	0			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:38937375G>A	ENST00000355481.4	+	9	898	c.767G>A	c.(766-768)cGc>cAc	p.R256H	RYR1_ENST00000359596.3_Missense_Mutation_p.R256H|RYR1_ENST00000360985.3_Missense_Mutation_p.R256H	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	256	MIR 3.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	ACTCATGCCCGCTCCCTCTGG	0.602													15	36					0	0	1	0	0	A	38937375	G	A	38937375	3	1	79	1	0	0	0	0	1	0	0	0	13820	1087	38	1	801	1	RYR1	19	38937375	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	2573964	38937375	20191608	413	4434											
PAF1	54623	broad.mit.edu	37	chr19	39879989	39879989	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagatgtactctgtctttcGcatccatggcaccaccttcg	7	12	9	13	2	2	1	0	0	2	1	5	2	3	1	3	2	1	3	3	2	1	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:39879989G>A	ENST00000221265.3	-	6	724	c.394C>T	c.(394-396)Cga>Tga	p.R132*	PAF1_ENST00000221266.7_Nonsense_Mutation_p.R122*|PAF1_ENST00000595564.1_Nonsense_Mutation_p.R122*	NM_019088.3	NP_061961.2	Q8N7H5	PAF1_HUMAN	Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae)	132					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2)	17	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			TCTGTCTTTCGCATCCATGGC	0.542													22	54					0	0	1	0	0	A	39879989	G	A	39879989	4	1	79	1	0	0	0	0	0	1	0	0	11430	1095	38	1	1237	1	PAF1	19	39879989	Nonsense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	942614	39879989	19248994	414	4435											
DYRK1B	9149	broad.mit.edu	37	chr19	40316612	40316612	+	Frame_Shift_Del	DEL	G	G	-																															acgaccaaggtatcggggctGggggggtaactgggccccgg																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	3ae50f27-7130-4dc6-ad2b-02b347a3f517	g.chr19:40316612delG	ENST00000593685.1	-	11	2101	c.1633delC	c.(1633-1635)agfs	p.Q545fs	DYRK1B_ENST00000323039.5_Frame_Shift_Del_p.Q545fs|DYRK1B_ENST00000430012.2_Frame_Shift_Del_p.Q505fs|DYRK1B_ENST00000597639.1_Frame_Shift_Del_p.Q517fs|DYRK1B_ENST00000348817.3_Frame_Shift_Del_p.Q517fs			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	545					positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			TATCGGGGCTGGGGGGGTAAC	0.692													10	45	---	---	---	---						-	40316612	G	-	40316612	7	5	79	1	0	1	0	1	0	0	0	0	4881	1357	47	0	260	0	DYRK1B	19	40316612	Frame_Shift_Del	DEL	G	TCGA-EJ-7782-01A-11D-2114-08	436623	40316612	18812371	415	4436											
AXL	558	broad.mit.edu	37	chr19	41744449	41744449	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtgcattggcaagagcccCgggcgcccctgcagggtacc	6	6	14	15	3	0	1	0	0	0	1	1	1	0	1	5	3	4	4	5	3	2	2	rs143593613		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:41744449C>T	ENST00000301178.4	+	8	1259	c.1069C>T	c.(1069-1071)Cgg>Tgg	p.R357W	AXL_ENST00000593513.1_Missense_Mutation_p.R89W|AXL_ENST00000359092.3_Missense_Mutation_p.R357W	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	357	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GCAAGAGCCCCGGGCGCCCCT	0.647													14	14					0	0	1	0	0	T	41744449	C	T	41744449	3	4	79	1	0	0	0	0	1	0	0	0	1236	643	23	1	1099	1	AXL	19	41744449	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	1427837	41744449	17384534	416	4437											
ZNF224	7767	broad.mit.edu	37	chr19	44611289	44611289	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atacgtgtgataagagctttCgtcagagatcagcacttaat	13	12	9	7	2	2	3	2	1	0	2	3	4	2	3	0	0	3	2	0	0	3	4			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:44611289C>T	ENST00000336976.6	+	6	1230	c.976C>T	c.(976-978)Cgt>Tgt	p.R326C	AC084219.4_ENST00000592946.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	326					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				TAAGAGCTTTCGTCAGAGATC	0.433													17	136					0	0	1	0	0	T	44611289	C	T	44611289	3	4	79	1	0	0	0	0	1	0	0	0	17836	884	31	1	990	1	ZNF224	19	44611289	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	2866840	44611289	14517694	417	4438											
MARK4	57787	broad.mit.edu	37	chr19	45805663	45805664	+	Frame_Shift_Ins	INS	-	-	C																															ttgggatcaaacggaaaccgINSccccccggctgctccgattc																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:45805663_45805664insC	ENST00000300843.4	+	18	2331_2332	c.2034_2035insC	c.(2032-2037)ccccccfs	p.PP678fs	MARK4_ENST00000262891.4_Frame_Shift_Ins_p.P652fs	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	0					microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		AACGGAAACCGCCCCCCGGCTG	0.639													42	132	---	---	---	---						C	45805664	-	C	45805663	7	5	79	1	0	1	1	0	0	0	0	0	9365	1074	38	0	2104	0	MARK4	19	45805663	Frame_Shift_Ins	INS	-	TCGA-EJ-7782-01A-11D-2114-08	1194374	45805663	13323320	418	4439											
CCDC8	83987	broad.mit.edu	37	chr19	46914607	46914607	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccggcgcttgcaaaaccaCgaaaagcgtccaggggtctg	10	6	12	13	4	1	0	0	0	1	0	3	1	3	0	3	3	3	2	3	3	4	1	rs34235823		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:46914607C>T	ENST00000307522.3	-	1	2234	c.1461G>A	c.(1459-1461)tcG>tcA	p.S487S		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	487						plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		TGCAAAACCACGAAAAGCGTC	0.627													4	52					0	0	1	0	0	T	46914607	C	T	46914607	2	4	79	1	0	0	0	0	0	0	0	1	2873	523	19	1		1	CCDC8	19	46914607	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	1108944	46914607	12214376	419	4440											
PTGIR	0	broad.mit.edu	37	chr19	47127100	47127100	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcggggcccgtccagctgcGcgtagaggtaggggtggctc	5	6	19	11	4	0	1	0	0	0	1	2	1	1	1	2	6	3	4	2	6	2	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:47127100G>A	ENST00000291294.2	-	2	516	c.383C>T	c.(382-384)gCg>gTg	p.A128V	PTGIR_ENST00000598865.1_Intron|PTGIR_ENST00000594275.1_Intron|PTGIR_ENST00000597185.1_Intron|PTGIR_ENST00000596260.1_Missense_Mutation_p.A128V	NM_000960.3	NP_000951.1	P43119	PI2R_HUMAN	prostaglandin I2 (prostacyclin) receptor (IP)	128					cell-cell signaling|G-protein signaling, coupled to cyclic nucleotide second messenger|platelet activation	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Epoprostenol(DB01240)|Iloprost(DB01088)|Misoprostol(DB00929)	GTCCAGCTGCGCGTAGAGGTA	0.692													9	10					0	0	1	0	0	A	47127100	G	A	47127100	3	1	79	1	0	0	0	0	1	0	0	0	12801	1087	38	1	785	1	PTGIR	19	47127100	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	212493	47127100	12001883	420	4441											
DHX34	9704	broad.mit.edu	37	chr19	47884519	47884519	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcctgcatgcgcccctcaCgcccctggagcgcatcgccc	4	6	11	20	4	1	0	1	0	0	0	2	1	1	1	6	2	3	2	6	2	0	0			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:47884519C>T	ENST00000328771.4	+	16	3585	c.3236C>T	c.(3235-3237)aCg>aTg	p.T1079M		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	1079						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		GCGCCCCTCACGCCCCTGGAG	0.672													7	42					0	0	1	0	0	T	47884519	C	T	47884519	3	4	79	1	0	0	0	0	1	0	0	0	4535	536	19	1	3294	1	DHX34	19	47884519	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	757419	47884519	11244464	421	4442											
LMTK3	114783	broad.mit.edu	37	chr19	49012151	49012151	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaacttgcgttgctccagggGccccgcgctggctcggagct	4	8	15	14	4	0	0	0	0	0	0	2	2	1	1	3	4	4	5	3	4	1	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:49012151G>T	ENST00000600059.1	-	5	741	c.514C>A	c.(514-516)Ccc>Acc	p.P172T	LMTK3_ENST00000270238.3_Missense_Mutation_p.P201T					lemur tyrosine kinase 3											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		TGCTCCAGGGGCCCCGCGCTG	0.597													19	32					1.37522e-17	1.49648e-17	1	1	0	T	49012151	G	T	49012151	3	4	79	1	0	0	0	0	1	0	0	0	8901	1203	42	4	3912	4	LMTK3	19	49012151	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	1127632	49012151	10116832	422	4443											
SPHK2	56848	broad.mit.edu	37	chr19	49132872	49132872	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtccgcagctgggctacGccgcggcccgtgccttccgc	2	7	14	18	6	0	0	0	0	0	0	2	0	2	0	5	2	3	4	5	2	1	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:49132872G>A	ENST00000443164.1	+	5	2698	c.1993G>A	c.(1993-1995)Gcc>Acc	p.A665T	SPHK2_ENST00000600537.1_Missense_Mutation_p.A544T|SPHK2_ENST00000599748.1_Missense_Mutation_p.A567T|SPHK2_ENST00000598088.1_Missense_Mutation_p.A603T|SPHK2_ENST00000245222.4_Missense_Mutation_p.A603T|SPHK2_ENST00000599029.1_Missense_Mutation_p.A567T|SPHK2_ENST00000340932.3_Missense_Mutation_p.A565T			Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	603					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		GCTGGGCTACGCCGCGGCCCG	0.682													3	7					0	0	1	0	0	A	49132872	G	A	49132872	3	1	79	1	0	0	0	0	1	0	0	0	15103	1087	38	1	1829	1	SPHK2	19	49132872	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	120721	49132872	9996111	423	4444											
CGB5	93659	broad.mit.edu	37	chr19	49548414	49548414	+	Frame_Shift_Del	DEL	G	G	-																															gccgcagcaccactgactgcGggggtcccaaggaccacccc																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:49548414delG	ENST00000301408.6	+	3	687	c.361delG	c.(361-363)ggfs	p.G122fs	CGB1_ENST00000391869.3_Intron	NM_033043.1	NP_149032.1	P01233	CGHB_HUMAN	chorionic gonadotropin, beta polypeptide 5	122					apoptosis|cell-cell signaling|cellular nitrogen compound metabolic process|female gamete generation|hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity			ovary(1)|pancreas(1)	2		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	Choriogonadotropin alfa(DB00097)	CACTGACTGCGGGGGTCCCAA	0.672													9	16	---	---	---	---						-	49548414	G	-	49548414	7	5	79	1	0	1	0	1	0	0	0	0	3321	1116	39	0	371	0	CGB5	19	49548414	Frame_Shift_Del	DEL	G	TCGA-EJ-7782-01A-11D-2114-08	415542	49548414	9580569	424	4445											
TRPM4	54795	broad.mit.edu	37	chr19	49714069	49714069	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagggacaagcgggagagcgActccgagcgtctgaagcgca	11	4	16	10	5	1	2	0	1	1	1	2	6	2	3	1	2	4	1	1	2	3	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:49714069A>G	ENST00000252826.5	+	22	3557	c.3431A>G	c.(3430-3432)gAc>gGc	p.D1144G	TRPM4_ENST00000355712.5_Missense_Mutation_p.D790G|TRPM4_ENST00000427978.2_Missense_Mutation_p.D999G	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	1144	Calmodulin-binding.				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CGGGAGAGCGACTCCGAGCGT	0.612													3	14					0	0	1	0	0	G	49714069	A	G	49714069	3	3	79	1	0	0	0	0	1	0	0	0	16649	275	10	3	3517	3	TRPM4	19	49714069	Missense_Mutation	SNP	A	TCGA-EJ-7782-01A-11D-2114-08	165655	49714069	9414914	425	4446											
AP2A1	160	broad.mit.edu	37	chr19	50302915	50302915	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gacgtcagcgtgcggcagcgGgcggctgacctcctctacgc	5	6	15	15	6	2	1	1	1	1	0	3	2	3	1	2	3	4	2	2	3	1	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:50302915G>T	ENST00000354293.5	+	10	1330	c.1164G>T	c.(1162-1164)cgG>cgT	p.R388R	AP2A1_ENST00000359032.5_Silent_p.R388R	NM_130787.2	NP_570603.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	388					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		TGCGGCAGCGGGCGGCTGACC	0.652													5	56					0.014758	0.014846	1	1	0	T	50302915	G	T	50302915	2	4	79	1	0	0	0	0	0	0	0	1	735	1219	43	4		4	AP2A1	19	50302915	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	588846	50302915	8826068	426	4447											
ZNF616	90317	broad.mit.edu	37	chr19	52618188	52618188	+	Frame_Shift_Del	DEL	T	T	-																															cactcattacatttataaggTtttttgccagaatgaattct																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:52618188delT	ENST00000600228.1	-	4	2490	c.2229delA	c.(2227-2229)aafs	p.K743fs	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	743					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P744fs*3(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		ATTTATAAGGTTTTTTGCCAG	0.393													11	85	---	---	---	---						-	52618188	T	-	52618188	7	5	79	1	0	1	0	1	0	0	0	0	18098	1722	60	0	120	0	ZNF616	19	52618188	Frame_Shift_Del	DEL	T	TCGA-EJ-7782-01A-11D-2114-08	2315273	52618188	6510795	427	4448											
ZNF71	58491	broad.mit.edu	37	chr19	57133248	57133248	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggcaaggccttcagccagcGcatgaacctcactgtgcacc	9	6	10	16	2	2	1	2	1	0	0	2	1	2	1	4	2	4	3	4	2	2	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:57133248G>A	ENST00000328070.6	+	3	827	c.593G>A	c.(592-594)cGc>cAc	p.R198H		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	198						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		TTCAGCCAGCGCATGAACCTC	0.637													19	41					0	0	1	0	0	A	57133248	G	A	57133248	3	1	79	1	0	0	0	0	1	0	0	0	18170	1087	38	1	595	1	ZNF71	19	57133248	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	4515060	57133248	1995735	428	4449											
ZNF772	400720	broad.mit.edu	37	chr19	57985397	57985397	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attgtgaggggcatggtgctCgaaaatgcttgagctggcta	9	11	15	6	1	0	2	0	2	0	0	1	3	0	2	0	4	3	5	0	4	3	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr19:57985397C>T	ENST00000343280.4	-	5	975	c.715G>A	c.(715-717)Gag>Aag	p.E239K	ZNF772_ENST00000427512.2_Missense_Mutation_p.E127K|AC004076.9_ENST00000596831.1_Intron|ZNF772_ENST00000356584.3_Missense_Mutation_p.E198K|ZNF772_ENST00000425074.3_3'UTR|ZNF772_ENST00000600175.1_Intron|ZNF772_ENST00000601768.1_Intron|AC004076.9_ENST00000415705.3_Intron	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN	zinc finger protein 772	239					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)		GCATGGTGCTCGAAAATGCTT	0.498													4	47					0	0	1	0	0	T	57985397	C	T	57985397	3	4	79	1	0	0	0	0	1	0	0	0	18194	893	31	1	758	1	ZNF772	19	57985397	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	852149	57985397	1143586	429	4450											
NSFL1C	55968	broad.mit.edu	37	chr20	1445045	1445045	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaatgtcttcatcccctccGtcctcataaaagctcgctag	10	11	5	15	2	3	0	2	0	1	0	7	0	6	0	4	0	1	2	4	0	4	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr20:1445045G>A	ENST00000216879.4	-	2	999	c.132C>T	c.(130-132)gaC>gaT	p.D44D	NSFL1C_ENST00000353088.2_Silent_p.D44D|RP4-776F14.3_ENST00000553571.1_RNA|NSFL1C_ENST00000476071.1_Silent_p.D44D|NSFL1C_ENST00000381658.4_Intron|NSFL1C_ENST00000350991.4_Silent_p.D44D	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	44						chromosome|Golgi stack|nucleus	lipid binding|protein binding			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						CATCCCCTCCGTCCTCATAAA	0.522													28	73					0	0	1	0	0	A	1445045	G	A	1445045	2	1	79	1	0	0	0	0	0	0	0	1	10720	1136	40	1		1	NSFL1C	20	1445045	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08		1445045	61580475	430	4451											
ADRA1D	146	broad.mit.edu	37	chr20	4202253	4202253	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcggccacctcgtgtgggaCgcctagggacacagcctcca	7	6	12	16	3	0	0	0	0	0	0	3	2	1	2	5	3	1	0	5	3	1	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr20:4202253C>T	ENST00000379453.4	-	2	1752	c.1636G>A	c.(1636-1638)Gtc>Atc	p.V546I		NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN	adrenoceptor alpha 1D	546				KPPSAFREWRLLGPFRRPTTQLRAKVSSLSHKIRAGGAQRA EAACAQRSEVEAVSLGVPHEVAEGATCQAYELADYSNLRET DI -> SHPAPSASGGCWGRSGDPRPSCAPKSPACRTRSPP GARSAQRQRAPSAQRWRLCP (in Ref. 1).	cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation	integral to plasma membrane	alpha1-adrenergic receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)	TCGTGTGGGACGCCTAGGGAC	0.667													3	23					0	0	1	0	0	T	4202253	C	T	4202253	3	4	79	1	0	0	0	0	1	0	0	0	335	536	19	1	86	1	ADRA1D	20	4202253	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	2757208	4202253	58823267	431	4452											
KIF16B	55614	broad.mit.edu	37	chr20	16359674	16359674	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctggactccaaaatctcCttttcctttttcctcacttt	6	19	2	14	0	3	0	1	0	2	0	8	1	6	1	4	1	0	0	4	1	2	5			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr20:16359674C>A	ENST00000354981.2	-	19	3130	c.2973G>T	c.(2971-2973)aaG>aaT	p.K991N	KIF16B_ENST00000355755.3_Missense_Mutation_p.K991N|KIF16B_ENST00000408042.1_Missense_Mutation_p.K991N|KIF16B_ENST00000378003.2_Missense_Mutation_p.K217N	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	991	Glu-rich.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CCAAAATCTCCTTTTCCTTTT	0.547													31	78					1.75199e-13	1.88218e-13	1	1	0	A	16359674	C	A	16359674	3	1	79	1	0	0	0	0	1	0	0	0	8320	680	24	4	1012	4	KIF16B	20	16359674	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	12157421	16359674	46665846	432	4453											
OVOL2	58495	broad.mit.edu	37	chr20	18005394	18005394	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttgagaaacgagctgccCggatgggcactgttcacgtg	8	11	13	9	3	1	1	1	1	0	1	1	4	1	2	1	2	3	3	1	2	1	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr20:18005394C>T	ENST00000278780.6	-	4	956	c.714G>A	c.(712-714)ccG>ccA	p.P238P	OVOL2_ENST00000483661.1_5'UTR	NM_021220.2	NP_067043.2	Q9BRP0	OVOL2_HUMAN	ovo-like zinc finger 2	238					negative regulation of keratinocyte differentiation|negative regulation of Notch signaling pathway|negative regulation of transcription by competitive promoter binding|regulation of cell cycle|regulation of keratinocyte proliferation|transcription, DNA-dependent	nucleus	DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)	6						ACGAGCTGCCCGGATGGGCAC	0.582													11	24					0	0	1	0	0	T	18005394	C	T	18005394	2	4	79	1	0	0	0	0	0	0	0	1	11374	639	23	1		1	OVOL2	20	18005394	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	1645720	18005394	45020126	433	4454											
NANP	140838	broad.mit.edu	37	chr20	25596622	25596622	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagcaggtaactctagcacaGaagaaaccatgtaatgcgga	16	6	11	8	1	1	2	0	0	1	2	1	4	1	3	1	2	5	4	1	2	5	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr20:25596622G>A	ENST00000304788.3	-	2	912	c.686C>T	c.(685-687)tCt>tTt	p.S229F		NM_152667.2	NP_689880.1	Q8TBE9	NANP_HUMAN	N-acetylneuraminic acid phosphatase	229					N-acetylneuraminate biosynthetic process		N-acylneuraminate-9-phosphatase activity|phosphoglycolate phosphatase activity			endometrium(2)|lung(2)|prostate(1)	5						CTCTAGCACAGAAGAAACCAT	0.408													14	63					0	0	1	0	0	A	25596622	G	A	25596622	3	1	79	1	0	0	0	0	1	0	0	0	10202	942	33	2	64	2	NANP	20	25596622	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	7591228	25596622	37428898	434	4455											
CSE1L	1434	broad.mit.edu	37	chr20	47706243	47706243	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcaagcattcttagaacGcggttcaaacacaatagcaa	15	10	6	10	2	4	1	2	0	2	1	4	1	4	1	0	1	4	3	0	1	7	5			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr20:47706243G>A	ENST00000262982.2	+	19	2264	c.2141G>A	c.(2140-2142)cGc>cAc	p.R714H	CSE1L_ENST00000542325.1_Missense_Mutation_p.R497H|CSE1L_ENST00000396192.3_Missense_Mutation_p.R658H	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	714					apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			TTCTTAGAACGCGGTTCAAAC	0.418													16	43					0	0	1	0	0	A	47706243	G	A	47706243	3	1	79	1	0	0	0	0	1	0	0	0	3955	1087	38	1	2211	1	CSE1L	20	47706243	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	22109621	47706243	15319277	435	4456											
CTCFL	140690	broad.mit.edu	37	chr20	56099037	56099037	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agggtcaggatgtacttctcGctctcctccgagggggccag	6	9	14	12	2	3	0	1	0	2	0	6	2	4	1	3	4	1	2	3	4	1	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr20:56099037G>A	ENST00000426658.2	-	1	886	c.225C>T	c.(223-225)agC>agT	p.S75S	CTCFL_ENST00000423479.2_Silent_p.S75S|CTCFL_ENST00000422869.2_Silent_p.S75S|CTCFL_ENST00000429804.2_Silent_p.S75S|CTCFL_ENST00000422109.2_Silent_p.S75S|CTCFL_ENST00000433949.2_Silent_p.S75S|CTCFL_ENST00000371196.2_Silent_p.S75S|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000432255.2_Silent_p.S75S|CTCFL_ENST00000243914.3_Silent_p.S75S			Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	75					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			TGTACTTCTCGCTCTCCTCCG	0.597													52	88					0	0	1	0	0	A	56099037	G	A	56099037	2	1	79	1	0	0	0	0	0	0	0	1	4025	1078	38	1		1	CTCFL	20	56099037	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	8392794	56099037	6926483	436	4457											
NTSR1	4923	broad.mit.edu	37	chr20	61391477	61391477	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcgtctctgccaacttccGccacatcttcctggccacac	6	10	5	20	2	2	0	0	0	2	0	6	0	4	0	6	1	2	0	6	1	1	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr20:61391477G>A	ENST00000370501.3	+	4	1486	c.1115G>A	c.(1114-1116)cGc>cAc	p.R372H	NTSR1_ENST00000482259.1_3'UTR	NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	372						endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled	p.R372L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			GCCAACTTCCGCCACATCTTC	0.587													6	113					0	0	1	0	0	A	61391477	G	A	61391477	3	1	79	1	0	0	0	0	1	0	0	0	10758	1087	38	1	1129	1	NTSR1	20	61391477	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	5292440	61391477	1634043	437	4458											
PCMTD2	55251	broad.mit.edu	37	chr20	62904703	62904703	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaacacccccaggtttaaacGaaggagagttcgccgccgtc	11	6	11	13	4	0	1	0	0	0	1	2	4	0	1	4	2	2	2	4	2	4	3	rs139861996	by1000genomes	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr20:62904703G>A	ENST00000308824.6	+	6	963	c.836G>A	c.(835-837)cGa>cAa	p.R279Q	PCMTD2_ENST00000369758.3_Missense_Mutation_p.R252Q|PCMTD2_ENST00000299468.7_Intron|PCMTD2_ENST00000266078.6_Missense_Mutation_p.R55Q	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2	279	Poly-Arg.					cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AGGTTTAAACGAAGGAGAGTT	0.473													22	69					0	0	1	0	0	A	62904703	G	A	62904703	3	1	79	1	0	0	0	0	1	0	0	0	11634	1058	37	1	854	1	PCMTD2	20	62904703	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	1513226	62904703	120817	438	4459											
B3GALT5	10317	broad.mit.edu	37	chr21	41033216	41033216	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catacattaaactggaagacGtgtttgtggggctctgcctc	9	12	11	9	1	1	1	0	0	1	1	2	2	1	2	1	3	3	2	1	3	4	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr21:41033216G>A	ENST00000380620.3	+	5	1322	c.730G>A	c.(730-732)Gtg>Atg	p.V244M	B3GALT5_ENST00000343118.4_Missense_Mutation_p.V244M|B3GALT5_ENST00000380618.1_Missense_Mutation_p.V244M|AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000398714.2_Missense_Mutation_p.V244M			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5	244					protein glycosylation	endoplasmic reticulum|Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				ACTGGAAGACGTGTTTGTGGG	0.557													26	56					0	0	1	0	0	A	41033216	G	A	41033216	3	1	79	1	0	0	0	0	1	0	0	0	1248	1145	40	1	732	1	B3GALT5	21	41033216	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08		41033216	7096679	439	4460											
MCM3AP	8888	broad.mit.edu	37	chr21	47665033	47665033	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggccaatcccgtcttcgaCgtactgaatgagagtctggc	9	10	11	11	3	2	2	0	2	2	1	4	4	3	2	2	2	1	1	2	2	3	2	rs17183248	byFrequency	TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr21:47665033C>T	ENST00000397708.1	-	24	4980	c.4726G>A	c.(4726-4728)Gtc>Atc	p.V1576I	MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.V1576I|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1576			V -> I (in dbSNP:rs17183248).		DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	p.V1576I(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CCGTCTTCGACGTACTGAATG	0.542													20	36					0	0	1	0	0	T	47665033	C	T	47665033	3	4	79	1	0	0	0	0	1	0	0	0	9438	536	19	1	1240	1	MCM3AP	21	47665033	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	6631817	47665033	464862	440	4461											
CLTCL1	8218	broad.mit.edu	37	chr22	19226837	19226837	+	Frame_Shift_Del	DEL	A	A	-																															tcattctgtgcctctggaggAaaaaacacatctactgcttt																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr22:19226837delA	ENST00000263200.10	-	5	828	c.756delT	c.(754-756)ttfs	p.F252fs	CLTCL1_ENST00000353891.5_Frame_Shift_Del_p.F252fs|CLTCL1_ENST00000427926.1_Frame_Shift_Del_p.F252fs	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	252	Globular terminal domain.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					CCTCTGGAGGAAAAAACACAT	0.428			T	?	ALCL								42	97	---	---	---	---						-	19226837	A	-	19226837	7	5	79	1	0	1	0	1	0	0	0	0	3590	243	9	0	4278	0	CLTCL1	22	19226837	Frame_Shift_Del	DEL	A	TCGA-EJ-7782-01A-11D-2114-08		19226837	32077729	441	4462											
MED15	51586	broad.mit.edu	37	chr22	20939447	20939447	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgatgagcggcagagcatccCcagtgtgctccagggtgagg	8	7	16	10	1	0	4	0	3	0	1	2	4	2	4	3	3	3	3	3	3	0	0			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr22:20939447C>T	ENST00000263205.7	+	16	2093	c.2024C>T	c.(2023-2025)cCc>cTc	p.P675L	MED15_ENST00000382974.2_Missense_Mutation_p.P564L|MED15_ENST00000542773.1_3'UTR|MED15_ENST00000541476.1_Missense_Mutation_p.P609L|MED15_ENST00000406969.1_Missense_Mutation_p.P609L|MED15_ENST00000292733.7_Missense_Mutation_p.P635L|MED15_ENST00000425759.2_Missense_Mutation_p.P524L	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	675					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			CAGAGCATCCCCAGTGTGCTC	0.642													19	27					0	0	1	0	0	T	20939447	C	T	20939447	3	4	79	1	0	0	0	0	1	0	0	0	9483	623	22	2	2086	2	MED15	22	20939447	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	1712610	20939447	30365119	442	4463											
MAPK1	5594	broad.mit.edu	37	chr22	22153339	22153339	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctggagccctgtaccaacGtgtggccacatattctgtca	8	12	9	12	1	3	0	1	0	2	0	3	1	3	1	3	2	3	1	3	2	3	4			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr22:22153339G>A	ENST00000215832.6	-	4	759	c.571C>T	c.(571-573)Cgt>Tgt	p.R191C	MAPK1_ENST00000398822.3_Missense_Mutation_p.R191C|MAPK1_ENST00000544786.1_Missense_Mutation_p.R191C	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	191	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleoplasm	ATP binding|DNA binding|MAP kinase activity|phosphatase binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)	CTGTACCAACGTGTGGCCACA	0.428													12	38					0	0	1	0	0	A	22153339	G	A	22153339	3	1	79	1	0	0	0	0	1	0	0	0	9321	1145	40	1	531	1	MAPK1	22	22153339	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	1213892	22153339	29151227	443	4464											
GNAZ	2781	broad.mit.edu	37	chr22	23438097	23438099	+	In_Frame_Del	DEL	TCA	TCA	-																															ctgcaaggagtacaagccccTcatcatctacaatgccatcg																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr22:23438097_23438099delTCA	ENST00000248996.4	+	2	881_883	c.215_217delTCA	c.(214-219)ctc>c	p.LI72del	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	72						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		TACAAGCCCCTCATCATCTACAA	0.606													17	160	---	---	---	---						-	23438099	TCA	-	23438097	7	5	79	1	0	1	0	1	0	0	0	0	6556	1551	54	0	217	0	GNAZ	22	23438097	In_Frame_Del	DEL	TCA	TCGA-EJ-7782-01A-11D-2114-08	1284758	23438097	27866469	444	4465											
MTMR3	8897	broad.mit.edu	37	chr22	30416462	30416462	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagagactgaaaacagggcCtcagagcagcccccaggtct	12	4	11	14	0	2	3	1	1	1	2	2	4	2	3	4	2	3	1	4	2	2	0			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr22:30416462C>A	ENST00000333027.3	+	17	3142	c.2814C>A	c.(2812-2814)gcC>gcA	p.A938A	MTMR3_ENST00000406629.1_Silent_p.A938A|MTMR3_ENST00000351488.3_Silent_p.A938A|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000401950.2_Silent_p.A938A|MTMR3_ENST00000323630.5_Silent_p.A802A	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	938					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			AAAACAGGGCCTCAGAGCAGC	0.587													20	47					1.56452e-12	1.67368e-12	1	1	0	A	30416462	C	A	30416462	2	1	79	1	0	0	0	0	0	0	0	1	9993	668	24	4		4	MTMR3	22	30416462	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	6978365	30416462	20888104	445	4466											
RNF215	200312	broad.mit.edu	37	chr22	30776081	30776081	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaagtagtccaggcacacCgcacaggtctcagcacccgg	11	4	11	15	2	1	1	1	0	1	1	3	1	2	1	3	3	1	4	3	3	2	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr22:30776081C>T	ENST00000382363.3	-	7	1052	c.978G>A	c.(976-978)gcG>gcA	p.A326A		NM_001017981.1	NP_001017981.1	Q9Y6U7	RN215_HUMAN	ring finger protein 215	326						integral to membrane	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)	6						CCAGGCACACCGCACAGGTCT	0.647													5	72					0	0	1	0	0	T	30776081	C	T	30776081	2	4	79	1	0	0	0	0	0	0	0	1	13531	639	23	1		1	RNF215	22	30776081	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	359619	30776081	20528485	446	4467											
RNF215	200312	broad.mit.edu	37	chr22	30776149	30776149	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccggcagcgccgtgtctTgagggatgccagtctccgca	6	7	14	14	4	2	1	0	1	2	0	3	2	2	2	4	2	3	2	4	2	0	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr22:30776149T>C	ENST00000382363.3	-	7	984	c.910A>G	c.(910-912)Aag>Gag	p.K304E		NM_001017981.1	NP_001017981.1	Q9Y6U7	RN215_HUMAN	ring finger protein 215	304						integral to membrane	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)	6						CGCCGTGTCTTGAGGGATGCC	0.657													10	65					0	0	1	0	0	C	30776149	T	C	30776149	3	2	79	1	0	0	0	0	1	0	0	0	13531	1821	63	3	235	3	RNF215	22	30776149	Missense_Mutation	SNP	T	TCGA-EJ-7782-01A-11D-2114-08	68	30776149	20528417	447	4468											
GAL3ST1	9514	broad.mit.edu	37	chr22	30951602	30951602	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attgaagccgttggggtcgtAgtagcgatccgggtcttgca	7	11	15	8	4	1	1	0	1	1	0	3	2	2	1	2	3	3	4	2	3	3	5			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr22:30951602A>G	ENST00000402321.1	-	3	927	c.610T>C	c.(610-612)Tac>Cac	p.Y204H	GAL3ST1_ENST00000443111.2_Missense_Mutation_p.Y204H|GAL3ST1_ENST00000338911.5_Missense_Mutation_p.Y204H|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.Y204H|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.Y204H|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.Y204H|GAL3ST1_ENST00000406361.1_Missense_Mutation_p.Y204H			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	204					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						TTGGGGTCGTAGTAGCGATCC	0.627													6	67					0	0	1	0	0	G	30951602	A	G	30951602	3	3	79	1	0	0	0	0	1	0	0	0	6237	420	15	3	665	3	GAL3ST1	22	30951602	Missense_Mutation	SNP	A	TCGA-EJ-7782-01A-11D-2114-08	175453	30951602	20352964	448	4469											
IL2RB	0	broad.mit.edu	37	chr22	37524301	37524301	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagcgtcagggacctcctcCccagcctctcgcagcaccag	7	5	9	20	2	2	0	1	0	1	0	5	1	4	1	7	1	3	2	7	1	0	0			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr22:37524301C>T	ENST00000216223.5	-	10	1689	c.1491G>A	c.(1489-1491)ggG>ggA	p.G497G		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	497					interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GGACCTCCTCCCCAGCCTCTC	0.692													6	15					0	0	1	0	0	T	37524301	C	T	37524301	2	4	79	1	0	0	0	0	0	0	0	1	7731	610	22	2		2	IL2RB	22	37524301	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	6572699	37524301	13780265	449	4470											
TAB1	10454	broad.mit.edu	37	chr22	39814776	39814776	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atgcaaatcgacagtggatgGgttgcaggtgacacagctga	12	8	14	7	1	0	2	0	2	0	0	1	4	0	3	0	3	3	4	0	3	1	1			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr22:39814776G>T	ENST00000216160.6	+	6	652	c.590G>T	c.(589-591)gGg>gTg	p.G197V	TAB1_ENST00000331454.3_Missense_Mutation_p.G197V	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	197	PP2C-like.				activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						ACAGTGGATGGGTTGCAGGTG	0.527													12	39					0.000151284	0.000154959	1	1	0	T	39814776	G	T	39814776	3	4	79	1	0	0	0	0	1	0	0	0	15552	1232	43	4	612	4	TAB1	22	39814776	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	2290475	39814776	11489790	450	4471											
WBP2NL	164684	broad.mit.edu	37	chr22	42423017	42423017	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccacctctcggatatggagcCccacctctcggatatggagc	8	8	10	15	2	2	0	0	0	2	0	4	4	2	4	5	4	2	0	5	4	2	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr22:42423017C>A	ENST00000328823.9	+	6	793	c.762C>A	c.(760-762)gcC>gcA	p.A254A	WBP2NL_ENST00000543212.1_Silent_p.A180A	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like	254	10 X 7 AA tandem repeat of Y-G-X-P-P-X-G.|Gly-rich.				egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding			breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						GATATGGAGCCCCACCTCTCG	0.597													9	187					0.000673444	0.000685639	1	1	0	A	42423017	C	A	42423017	2	1	79	1	0	0	0	0	0	0	0	1	17320	610	22	4		4	WBP2NL	22	42423017	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	2608241	42423017	8881549	451	4472											
EFCAB6	64800	broad.mit.edu	37	chr22	44063044	44063044	+	Frame_Shift_Del	DEL	T	T	-																															ttgctgaagtcaagaaatcgTtttttgaatgccgggtcctg																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr22:44063044delT	ENST00000262726.7	-	17	2176	c.1923delA	c.(1921-1923)aafs	p.K641fs	EFCAB6_ENST00000396231.2_Frame_Shift_Del_p.K489fs	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	641	EF-hand 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CAAGAAATCGTTTTTTGAATG	0.408													14	79	---	---	---	---						-	44063044	T	-	44063044	7	5	79	1	0	1	0	1	0	0	0	0	4965	1722	60	0	2646	0	EFCAB6	22	44063044	Frame_Shift_Del	DEL	T	TCGA-EJ-7782-01A-11D-2114-08	1640027	44063044	7241522	452	4473											
GTSE1	51512	broad.mit.edu	37	chr22	46725429	46725429	+	Frame_Shift_Del	DEL	A	A	-																															caaacactccagacatgaatAaaaatgtggccaaaccttca																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chr22:46725429delA	ENST00000454366.1	+	11	2313	c.2101delA	c.(2101-2103)aafs	p.K701fs		NM_016426.6	NP_057510.4	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	682					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		AGACATGAATAAAAATGTGGC	0.517													23	59	---	---	---	---						-	46725429	A	-	46725429	7	5	79	1	0	1	0	1	0	0	0	0	6926	363	13	0	2139	0	GTSE1	22	46725429	Frame_Shift_Del	DEL	A	TCGA-EJ-7782-01A-11D-2114-08	2662385	46725429	4579137	453	4474											
ARSF	416	broad.mit.edu	37	chrX	3002368	3002368	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgggtttgactactactatgGcatgccgttcactctcgttg	6	15	10	10	2	2	1	1	1	1	0	3	1	2	1	1	2	3	4	1	2	3	6			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:3002368G>A	ENST00000381127.1	+	6	712	c.491G>A	c.(490-492)gGc>gAc	p.G164D	ARSF_ENST00000359361.2_Missense_Mutation_p.G164D|ARSF_ENST00000537104.1_Missense_Mutation_p.G164D	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	164						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TACTACTATGGCATGCCGTTC	0.517													4	35					0	0	1	0	0	A	3002368	G	A	3002368	3	1	79	1	0	0	0	0	1	0	0	0	990	1203	42	2	509	2	ARSF	23	3002368	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08		3002368	152268192	454	4475											
MXRA5	25878	broad.mit.edu	37	chrX	3228603	3228604	+	Frame_Shift_Ins	INS	-	-	G																															ccgtgatcttctcgctgatcINSgggtcgtggaagatgggttt																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:3228603_3228604insG	ENST00000217939.6	-	7	7794_7795	c.7640_7641insC	c.(7639-7641)catfs	p.H2547fs		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2547	Ig-like C2-type 10.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TCTCGCTGATCGGGTCGTGGAA	0.634													11	5	---	---	---	---						G	3228604	-	G	3228603	7	5	79	1	0	1	1	0	0	0	0	0	10051	871	31	0	849	0	MXRA5	23	3228603	Frame_Shift_Ins	INS	-	TCGA-EJ-7782-01A-11D-2114-08	226235	3228603	152041957	455	4476											
RAB9A	9367	broad.mit.edu	37	chrX	13727114	13727114	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tacagaggttctgactgctgCctgcttacttttagtgtcga	7	15	10	9	1	1	2	0	1	1	1	2	3	1	2	1	1	5	3	1	1	3	5			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:13727114C>T	ENST00000464506.1	+	3	528	c.249C>T	c.(247-249)tgC>tgT	p.C83C	RAB9A_ENST00000243325.5_3'UTR	NM_001195328.1|NM_004251.4	NP_001182257.1|NP_004242.1	P51151	RAB9A_HUMAN	RAB9A, member RAS oncogene family	83					protein transport|small GTPase mediated signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome|lysosome|plasma membrane	GDP binding|GTP binding|GTPase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						CTGACTGCTGCCTGCTTACTT	0.438													15	80					0	0	1	0	0	T	13727114	C	T	13727114	2	4	79	1	0	0	0	0	0	0	0	1	13010	747	26	2		2	RAB9A	23	13727114	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	10498511	13727114	141543446	456	4477											
GPR64	10149	broad.mit.edu	37	chrX	19037719	19037719	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatgtttgttacataccaCtgaagcttttccaactcttc	10	15	5	11	0	1	1	0	1	1	0	3	1	2	1	2	0	5	4	2	0	4	6			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:19037719C>T	ENST00000379878.3	-	14	901	c.660G>A	c.(658-660)caG>caA	p.Q220Q	GPR64_ENST00000379869.3_Silent_p.Q236Q|GPR64_ENST00000379873.2_Silent_p.Q236Q|GPR64_ENST00000340581.3_Silent_p.Q206Q|GPR64_ENST00000357991.3_Silent_p.Q233Q|GPR64_ENST00000356606.4_Silent_p.Q222Q|GPR64_ENST00000357544.3_Silent_p.Q206Q|GPR64_ENST00000379876.1_Silent_p.Q212Q|GPR64_ENST00000354791.3_Silent_p.Q220Q|GPR64_ENST00000360279.4_Silent_p.Q214Q	NM_001184833.1	NP_001171762.1	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	236					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					TTACATACCACTGAAGCTTTT	0.398													8	15					0	0	1	0	0	T	19037719	C	T	19037719	2	4	79	1	0	0	0	0	0	0	0	1	6745	564	20	2		2	GPR64	23	19037719	Silent	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	5310605	19037719	136232841	457	4478											
APOO	79135	broad.mit.edu	37	chrX	23876823	23876823	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctaatcccatgaaaccaggcGgatacactagcttctttatt	12	12	6	11	1	1	1	0	1	1	0	2	2	2	2	2	2	3	1	2	2	5	7			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:23876823G>A	ENST00000379226.4	-	6	647	c.416C>T	c.(415-417)cCg>cTg	p.P139L	APOO_ENST00000379220.3_Missense_Mutation_p.P120L	NM_024122.4	NP_077027.1	Q9BUR5	APOO_HUMAN	apolipoprotein O	139					lipid transport	high-density lipoprotein particle|integral to membrane|low-density lipoprotein particle|very-low-density lipoprotein particle				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|prostate(1)	9						GAAACCAGGCGGATACACTAG	0.403													13	4					0	0	1	0	0	A	23876823	G	A	23876823	3	1	79	1	0	0	0	0	1	0	0	0	810	1116	39	1	192	1	APOO	23	23876823	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	4839104	23876823	131393737	458	4479											
PRRG1	5638	broad.mit.edu	37	chrX	37312611	37312611	+	Frame_Shift_Del	DEL	C	C	-																															accttaatattatcaccccaCcccccccaccagatgaagtg																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:37312611delC	ENST00000542554.1	+	5	666	c.394delC	c.(394-396)ccfs	p.P135fs	PRRG1_ENST00000449135.2_Frame_Shift_Del_p.P135fs|TM4SF2_ENST00000465127.1_Intron|PRRG1_ENST00000378628.4_Frame_Shift_Del_p.P135fs|PRRG1_ENST00000491253.1_3'UTR|PRRG1_ENST00000543642.1_Frame_Shift_Del_p.P135fs	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN	proline rich Gla (G-carboxyglutamic acid) 1	135	Poly-Pro.					extracellular region|integral to plasma membrane	calcium ion binding	p.P135fs*3(1)|p.P134fs*19(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						TATCACCCCACCCCCCCCACC	0.488													9	58	---	---	---	---						-	37312611	C	-	37312611	7	5	79	1	0	1	0	1	0	0	0	0	12655	507	18	0	486	0	PRRG1	23	37312611	Frame_Shift_Del	DEL	C	TCGA-EJ-7782-01A-11D-2114-08	13435788	37312611	117957949	459	4480											
SRPX	8406	broad.mit.edu	37	chrX	38020284	38020284	+	Frame_Shift_Del	DEL	G	G	-																															cttctggaaagttggagcctGgggggaggccttttagaatg																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:38020284delG	ENST00000378533.3	-	6	783	c.677delC	c.(676-678)cafs	p.P226fs	SRPX_ENST00000544439.1_Frame_Shift_Del_p.P206fs|SRPX_ENST00000538295.1_Frame_Shift_Del_p.P226fs|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000343800.6_Frame_Shift_Del_p.P213fs|SRPX_ENST00000432886.2_Frame_Shift_Del_p.P167fs	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	226	HYR.				cell adhesion	cell surface|membrane				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						GTTGGAGCCTGGGGGGAGGCC	0.433													30	18	---	---	---	---						-	38020284	G	-	38020284	7	5	79	1	0	1	0	1	0	0	0	0	15220	1348	47	0	737	0	SRPX	23	38020284	Frame_Shift_Del	DEL	G	TCGA-EJ-7782-01A-11D-2114-08	707673	38020284	117250276	460	4481											
PHF16	0	broad.mit.edu	37	chrX	46887491	46887491	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttctgtgataagtgtaacGtctgtgtgcatcaggttagt	8	16	12	5	1	3	1	1	1	2	0	3	1	3	1	0	1	2	4	0	1	3	4			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:46887491G>A	ENST00000218343.4	+	6	971	c.673G>A	c.(673-675)Gtc>Atc	p.V225I	PHF16_ENST00000397189.1_Missense_Mutation_p.V225I	NM_014735.3	NP_055550.1	Q92613	JADE3_HUMAN		225					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						TAAGTGTAACGTCTGTGTGCA	0.488													21	4					0	0	1	0	0	A	46887491	G	A	46887491	3	1	79	1	0	0	0	0	1	0	0	0	11875	1145	40	1	691	1	PHF16	23	46887491	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	8867207	46887491	108383069	461	4482											
ZNF41	7592	broad.mit.edu	37	chrX	47315344	47315344	+	Frame_Shift_Del	DEL	C	C	-																															acagctctgatgtggggcttCcccctccagcatccatggcc																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:47315344delC	ENST00000377065.4	-	4	910	c.271delG	c.(271-273)aafs	p.E91fs	ZNF41_ENST00000313116.7_Frame_Shift_Del_p.E91fs|ZNF41_ENST00000397050.2_Frame_Shift_Del_p.E101fs|ZNF41_ENST00000465311.1_5'UTR	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	133	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				TGTGGGGCTTCCCCCTCCAGC	0.532													15	5	---	---	---	---						-	47315344	C	-	47315344	7	5	79	1	0	1	0	1	0	0	0	0	17946	864	30	0	2076	0	ZNF41	23	47315344	Frame_Shift_Del	DEL	C	TCGA-EJ-7782-01A-11D-2114-08	427853	47315344	107955216	462	4483											
MAGED1	9500	broad.mit.edu	37	chrX	51639838	51639838	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggccaaaccccattgtctggCccggccctgttgtctggccg	4	9	12	16	2	2	0	0	0	2	0	2	0	2	0	6	4	1	1	6	4	1	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:51639838C>T	ENST00000375695.2	+	5	1408	c.1255C>T	c.(1255-1257)Ccc>Tcc	p.P419S	MAGED1_ENST00000375722.1_Missense_Mutation_p.P363S|MAGED1_ENST00000326587.7_Missense_Mutation_p.P363S|MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375772.3_Missense_Mutation_p.P363S	NM_001005333.1	NP_001005333.1	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	363	22 X 6 AA tandem repeats of W-[PQ]-X-P-X- X.|Pro-rich.				apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					CATTGTCTGGCCCGGCCCTGT	0.617										Multiple Myeloma(10;0.10)			9	11					0	0	1	0	0	T	51639838	C	T	51639838	3	4	79	1	0	0	0	0	1	0	0	0	9233	739	26	2	1269	2	MAGED1	23	51639838	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	4324494	51639838	103630722	463	4484											
STARD8	9754	broad.mit.edu	37	chrX	67937675	67937675	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acgttcctggggaccacaaaCcaggcacattccctcgctcc	9	7	8	17	2	0	0	0	0	0	0	4	1	3	1	5	3	1	3	5	3	1	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:67937675C>T	ENST00000252336.6	+	5	1051	c.679C>T	c.(679-681)Cca>Tca	p.P227S	STARD8_ENST00000374597.3_Missense_Mutation_p.P227S|STARD8_ENST00000374599.3_Missense_Mutation_p.P307S	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	227					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						GGACCACAAACCAGGCACATT	0.647													3	11					0	0	1	0	0	T	67937675	C	T	67937675	3	4	79	1	0	0	0	0	1	0	0	0	15319	507	18	2	941	2	STARD8	23	67937675	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	16297837	67937675	87332885	464	4485											
NONO	4841	broad.mit.edu	37	chrX	70516423	70516423	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttcttccagatttcctcGtcctgtgactgtggagccca	5	15	8	13	1	2	2	0	1	2	1	6	3	5	3	4	1	1	0	4	1	0	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:70516423G>A	ENST00000535149.1	+	4	1035	c.392G>A	c.(391-393)cGt>cAt	p.R131H	NONO_ENST00000373841.1_Missense_Mutation_p.R220H|NONO_ENST00000276079.8_Missense_Mutation_p.R220H|NONO_ENST00000490044.1_3'UTR|NONO_ENST00000373856.3_Missense_Mutation_p.R220H	NM_001145410.1	NP_001138882.1	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	220	DBHS.|RRM 1.				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					AGATTTCCTCGTCCTGTGACT	0.438			T	TFE3	papillary renal cancer								7	2					0	0	1	0	0	A	70516423	G	A	70516423	3	1	79	1	0	0	0	0	1	0	0	0	10581	1145	40	1	673	1	NONO	23	70516423	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	2578748	70516423	84754137	465	4486											
TAF1	6872	broad.mit.edu	37	chrX	70613199	70613199	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatgtggtgcgcacaatgTcaacagaacaggctcgttct	10	11	11	9	2	2	2	1	1	1	1	3	2	2	2	0	2	3	3	0	2	3	2			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:70613199T>C	ENST00000449580.1	+	21	3148	c.3097T>C	c.(3097-3099)Tca>Cca	p.S1033P	TAF1_ENST00000423759.1_Missense_Mutation_p.S1054P|TAF1_ENST00000276072.3_Missense_Mutation_p.S1054P|TAF1_ENST00000373790.4_Missense_Mutation_p.S1033P			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1033					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GCGCACAATGTCAACAGAACA	0.453													28	6					0	0	1	0	0	C	70613199	T	C	70613199	3	2	79	1	0	0	0	0	1	0	0	0	15570	1667	58	3	3242	3	TAF1	23	70613199	Missense_Mutation	SNP	T	TCGA-EJ-7782-01A-11D-2114-08	96776	70613199	84657361	466	4487											
ACRC	93953	broad.mit.edu	37	chrX	70823665	70823665	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgatgattcggaagctcccGacgacaatagtgatgattcg	11	10	12	8	4	0	4	0	4	0	0	3	7	1	5	1	1	1	1	1	1	3	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:70823665G>A	ENST00000373695.1	+	7	1075	c.538G>A	c.(538-540)Gac>Aac	p.D180N	ACRC_ENST00000373696.3_Missense_Mutation_p.D180N			Q96QF7	ACRC_HUMAN	acidic repeat containing	180	Asp/Ser-rich.					nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					GGAAGCTCCCGACGACAATAG	0.498													119	60					0	0	1	0	0	A	70823665	G	A	70823665	3	1	79	1	0	0	0	0	1	0	0	0	171	1058	37	1	564	1	ACRC	23	70823665	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	210466	70823665	84446895	467	4488											
BCORL1	63035	broad.mit.edu	37	chrX	129148510	129148510	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaagatgcccagtggcaccGagcagcaaacagaagggact	14	3	12	12	1	0	2	0	0	0	2	0	4	0	3	3	2	4	3	3	2	3	0			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:129148510G>A	ENST00000540052.1	+	3	1806	c.1762G>A	c.(1762-1764)Gag>Aag	p.E588K	BCORL1_ENST00000218147.7_Missense_Mutation_p.E588K|BCORL1_ENST00000359304.2_Missense_Mutation_p.E588K|BCORL1_ENST00000303743.5_Missense_Mutation_p.E588K	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	588	Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CAGTGGCACCGAGCAGCAAAC	0.612													35	11					0	0	1	0	0	A	129148510	G	A	129148510	3	1	79	1	0	0	0	0	1	0	0	0	1385	1059	37	1	1772	1	BCORL1	23	129148510	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	58324845	129148510	26122050	468	4489											
USP26	83844	broad.mit.edu	37	chrX	132160413	132160413	+	Frame_Shift_Del	DEL	T	T	-																															cctttaaagactgtctggccTtttttttgttcagactcctt																										TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:132160413delT	ENST00000511190.1	-	6	2305	c.1836delA	c.(1834-1836)aafs	p.K612fs	USP26_ENST00000406273.1_Frame_Shift_Del_p.K612fs|USP26_ENST00000370832.1_Frame_Shift_Del_p.K612fs	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	612					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	p.K611fs*4(1)|p.K612fs*6(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					CTGTCTGGCCTTTTTTTTGTT	0.413													16	15	---	---	---	---						-	132160413	T	-	132160413	7	5	79	1	0	1	0	1	0	0	0	0	17117	1606	56	0	908	0	USP26	23	132160413	Frame_Shift_Del	DEL	T	TCGA-EJ-7782-01A-11D-2114-08	3011903	132160413	23110147	469	4490											
ZNF75D	7626	broad.mit.edu	37	chrX	134427900	134427900	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtccggttgcttcatgataaCggaagctccagaagtgcctg	9	10	12	10	2	1	2	1	1	0	1	3	3	3	3	3	2	4	3	3	2	3	3	rs148068840		TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:134427900C>T	ENST00000370766.3	-	3	2876	c.167G>A	c.(166-168)cGt>cAt	p.R56H	ZNF75D_ENST00000494295.1_Intron|ZNF75D_ENST00000370764.1_Missense_Mutation_p.R56H	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	56	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						TTCATGATAACGGAAGCTCCA	0.478													4	54					0	0	1	0	0	T	134427900	C	T	134427900	3	4	79	1	0	0	0	0	1	0	0	0	18184	536	19	1	1385	1	ZNF75D	23	134427900	Missense_Mutation	SNP	C	TCGA-EJ-7782-01A-11D-2114-08	2267487	134427900	20842660	470	4491											
GPR112	139378	broad.mit.edu	37	chrX	135429592	135429592	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catatcgtgtacacacaccaGtgtccatccagttggtgact	10	11	8	12	1	0	1	0	1	0	0	3	1	2	1	3	1	1	2	3	1	2	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:135429592G>A	ENST00000394143.1	+	6	4018	c.3727G>A	c.(3727-3729)Gtg>Atg	p.V1243M	GPR112_ENST00000412101.1_Missense_Mutation_p.V1038M|GPR112_ENST00000370652.1_Missense_Mutation_p.V1243M|GPR112_ENST00000287534.4_Missense_Mutation_p.V1180M|GPR112_ENST00000394141.1_Missense_Mutation_p.V1038M	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1243					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ACACACACCAGTGTCCATCCA	0.458													7	72					0	0	1	0	0	A	135429592	G	A	135429592	3	1	79	1	0	0	0	0	1	0	0	0	6669	1029	36	2	3737	2	GPR112	23	135429592	Missense_Mutation	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	1001692	135429592	19840968	471	4492											
SLITRK4	139065	broad.mit.edu	37	chrX	142716669	142716669	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ataaacacattggaatccctGctagggaataattcatccag	15	10	7	9	0	1	0	1	0	0	0	3	2	3	2	2	2	2	1	2	2	6	5			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:142716669G>A	ENST00000381779.4	-	2	2481	c.2256C>T	c.(2254-2256)agC>agT	p.S752S	SLITRK4_ENST00000356928.1_Silent_p.S752S|SLITRK4_ENST00000338017.4_Silent_p.S752S	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	752						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TGGAATCCCTGCTAGGGAATA	0.383													17	63					0	0	1	0	0	A	142716669	G	A	142716669	2	1	79	1	0	0	0	0	0	0	0	1	14799	1310	46	2		2	SLITRK4	23	142716669	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	7287077	142716669	12553891	472	4493											
RAB39B	116442	broad.mit.edu	37	chrX	154490316	154490316	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatgcagcagccagtttctcGgcctcgtggcgagtcacttg	6	11	12	12	3	2	0	1	0	1	0	4	1	2	0	2	2	3	3	2	2	1	3			TCGA-EJ-7782-01A-11D-2114-08	TCGA-EJ-7782-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e0c2ed-204a-4bd3-b9fa-441029d8780d	c0c289a5-6e6d-434b-834d-6d462e5108c6	g.chrX:154490316G>A	ENST00000369454.3	-	2	714	c.414C>T	c.(412-414)gcC>gcT	p.A138A		NM_171998.2	NP_741995.1	Q96DA2	RB39B_HUMAN	RAB39B, member RAS oncogene family	138					protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport	Golgi apparatus|plasma membrane	GTP binding	p.A138A(2)		breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCAGTTTCTCGGCCTCGTGGC	0.488													48	26					0	0	1	0	0	A	154490316	G	A	154490316	2	1	79	1	0	0	0	0	0	0	0	1	12982	1103	39	1		1	RAB39B	23	154490316	Silent	SNP	G	TCGA-EJ-7782-01A-11D-2114-08	11773647	154490316	780244	473	4494											
NBPF3	84224	broad.mit.edu	37	chr1	21806573	21806573	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagctgctggatgagaaagAgcctgaagtcttgcaggact	11	8	15	7	0	1	3	0	2	1	2	1	7	1	6	1	3	4	3	1	3	2	1			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr1:21806573A>G	ENST00000318220.6	+	14	2118	c.1070A>G	c.(1069-1071)gAg>gGg	p.E357G	NBPF3_ENST00000454000.2_Missense_Mutation_p.E343G|NBPF3_ENST00000342104.5_Missense_Mutation_p.E401G|NBPF3_ENST00000318249.5_Missense_Mutation_p.E413G			Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	413	NBPF 2.					cytoplasm		p.E413G(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GATGAGAAAGAGCCTGAAGTC	0.463													3	43					0	0	0.115264	0	0	G	21806573	A	G	21806573	3	3	80	1	0	0	0	0	1	0	0	0	10245	304	11	3	1276	3	NBPF3	1	21806573	Missense_Mutation	SNP	A	TCGA-EJ-7783-01A-11D-2114-08		21806573	227444048	1	4495											
AHDC1	27245	broad.mit.edu	37	chr1	27874814	27874814	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccgccccgtccacctcgCggctgccggggcccagtgct	3	5	12	21	5	0	0	0	0	0	0	2	0	1	0	8	3	2	2	8	3	0	0			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr1:27874814C>T	ENST00000374011.2	-	6	4781	c.3813G>A	c.(3811-3813)ccG>ccA	p.P1271P	AHDC1_ENST00000482400.2_Intron|AHDC1_ENST00000247087.5_Silent_p.P1271P	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1271							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GTCCACCTCGCGGCTGCCGGG	0.677													29	105					0	0	0.769981	0	0	T	27874814	C	T	27874814	2	4	80	1	0	0	0	0	0	0	0	1	409	755	27	1		1	AHDC1	1	27874814	Silent	SNP	C	TCGA-EJ-7783-01A-11D-2114-08	6068241	27874814	221375807	2	4496											
FAF1	11124	broad.mit.edu	37	chr1	51253785	51253785	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcctggatggcattacaggtCgaaacgctgaagaagaagag	14	6	14	7	2	0	4	0	1	0	3	1	6	0	5	1	3	2	2	1	3	5	1			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr1:51253785C>T	ENST00000396153.2	-	4	705	c.254G>A	c.(253-255)cGa>cAa	p.R85Q	FAF1_ENST00000371778.4_Missense_Mutation_p.R85Q	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	85					apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity	p.0?(3)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		CATTACAGGTCGAAACGCTGA	0.458													15	46					0	0	0.539581	0	0	T	51253785	C	T	51253785	3	4	80	1	0	0	0	0	1	0	0	0	5400	884	31	1	1762	1	FAF1	1	51253785	Missense_Mutation	SNP	C	TCGA-EJ-7783-01A-11D-2114-08	23378971	51253785	197996836	3	4497											
FNDC7	163479	broad.mit.edu	37	chr1	109276138	109276138	+	Frame_Shift_Del	DEL	A	A	-																															ttgaagcttactttctgtccAaaaaaaatatattcaggtaa																										TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr1:109276138delA	ENST00000370017.3	+	10	2401	c.2124delA	c.(2122-2124)ccfs	p.P708fs	FNDC7_ENST00000271311.2_Frame_Shift_Del_p.P709fs	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	709	Fibronectin type-III 8.					extracellular region		p.I478fs*4(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		CTTTCTGTCCAAAAAAAATAT	0.363													7	89	---	---	---	---						-	109276138	A	-	109276138	7	5	80	1	0	1	0	1	0	0	0	0	6006	117	5	0	2162	0	FNDC7	1	109276138	Frame_Shift_Del	DEL	A	TCGA-EJ-7783-01A-11D-2114-08	58022353	109276138	139974483	4	4498											
CELSR2	1952	broad.mit.edu	37	chr1	109803759	109803759	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgctggtgggcggtttcAagtgcgattgcccatctgga	6	11	14	10	2	2	0	1	0	1	0	2	2	2	1	2	4	3	2	2	4	1	2			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr1:109803759A>G	ENST00000271332.3	+	3	4115	c.4054A>G	c.(4054-4056)Aag>Gag	p.K1352E		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1352	EGF-like 3; calcium-binding.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GGGCGGTTTCAAGTGCGATTG	0.627													34	130					0	0	0.819951	0	0	G	109803759	A	G	109803759	3	3	80	1	0	0	0	0	1	0	0	0	3244	131	5	3	4064	3	CELSR2	1	109803759	Missense_Mutation	SNP	A	TCGA-EJ-7783-01A-11D-2114-08	527621	109803759	139446862	5	4499											
CSDE1	7812	broad.mit.edu	37	chr1	115262240	115262240	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcgctgcacttgccagtgcGctgattaagaatcactgaga	10	9	12	10	2	1	3	1	2	0	2	1	4	1	3	1	1	3	3	1	1	2	2			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr1:115262240G>A	ENST00000438362.2	-	18	2692	c.2314C>T	c.(2314-2316)Cgc>Tgc	p.R772C	CSDE1_ENST00000369530.1_Missense_Mutation_p.R741C|CSDE1_ENST00000358528.4_Missense_Mutation_p.R726C|CSDE1_ENST00000261443.5_Missense_Mutation_p.R695C|CSDE1_ENST00000534699.1_Missense_Mutation_p.R726C|CSDE1_ENST00000530886.1_Missense_Mutation_p.R596C|CSDE1_ENST00000339438.6_Missense_Mutation_p.R695C	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	726					male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGCCAGTGCGCTGATTAAGA	0.453													7	101					0	0	0.307466	0	0	A	115262240	G	A	115262240	3	1	80	1	0	0	0	0	1	0	0	0	3954	1087	38	1	232	1	CSDE1	1	115262240	Missense_Mutation	SNP	G	TCGA-EJ-7783-01A-11D-2114-08	5458481	115262240	133988381	6	4500											
KIAA1614	57710	broad.mit.edu	37	chr1	180885314	180885314	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaagacagggagtggaacAgccagccccgtggaggggac	11	2	16	12	1	0	1	0	0	0	1	0	5	0	5	4	5	3	0	4	5	2	0			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr1:180885314A>G	ENST00000367588.4	+	2	130	c.75A>G	c.(73-75)acA>acG	p.T25T		NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	25										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GGAGTGGAACAGCCAGCCCCG	0.617													11	52					0	0	0.435327	0	0	G	180885314	A	G	180885314	2	3	80	1	0	0	0	0	0	0	0	1	8290	175	7	3		3	KIAA1614	1	180885314	Silent	SNP	A	TCGA-EJ-7783-01A-11D-2114-08	65623074	180885314	68365307	7	4501											
ZFP36L2	678	broad.mit.edu	37	chr2	43451740	43451742	+	In_Frame_Del	DEL	CTG	CTG	-																															tgcgcggggggcgccaggccCtgctgctgctgctgctgctg																										TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr2:43451740_43451742delCTG	ENST00000282388.3	-	2	1494_1496	c.1201_1203delCAG	c.(1201-1203)del	p.Q401del	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	401	Poly-Gln.				cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				gcgccaggccctgctgctgctgc	0.764													3	6	---	---	---	---						-	43451742	CTG	-	43451740	7	5	80	1	0	1	0	1	0	0	0	0	17705	680	24	0	285	0	ZFP36L2	2	43451740	In_Frame_Del	DEL	CTG	TCGA-EJ-7783-01A-11D-2114-08		43451740	199747633	8	4502											
BCL6	604	broad.mit.edu	37	chr3	187447232	187447232	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acccttccggttcaggggtgCattggggggctcgaaatgca	7	9	15	10	2	1	0	1	0	0	0	3	1	2	0	2	6	2	4	2	6	1	3			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr3:187447232C>T	ENST00000406870.2	-	5	1327	c.961G>A	c.(961-963)Gca>Aca	p.A321T	RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.A321T|RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000450123.2_Missense_Mutation_p.A321T	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	321					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		TTCAGGGGTGCATTGGGGGGC	0.572			"T, Mis"	"IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"	"NHL, CLL"								8	131					0	0	0.307466	0	0	T	187447232	C	T	187447232	3	4	80	1	0	0	0	0	1	0	0	0	1374	710	25	2	1183	2	BCL6	3	187447232	Missense_Mutation	SNP	C	TCGA-EJ-7783-01A-11D-2114-08		187447232	10575198	9	4503											
TMEM192	201931	broad.mit.edu	37	chr4	166009709	166009709	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatacaatctgccaggctctGggaaggagtgctgcatgcac	10	8	13	10	0	2	0	0	0	2	0	2	3	2	2	1	3	5	4	1	3	3	1			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr4:166009709G>A	ENST00000306480.5	-	4	630	c.485C>T	c.(484-486)cCa>cTa	p.P162L	TMEM192_ENST00000506087.1_Missense_Mutation_p.P158L	NM_001100389.1	NP_001093859.1	Q8IY95	TM192_HUMAN	transmembrane protein 192	162						Golgi apparatus|integral to membrane|late endosome|lysosomal membrane|nucleus				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0926)		GCCAGGCTCTGGGAAGGAGTG	0.453													4	27					0	0	0.217242	0	0	A	166009709	G	A	166009709	3	1	80	1	0	0	0	0	1	0	0	0	16175	1348	47	2	342	2	TMEM192	4	166009709	Missense_Mutation	SNP	G	TCGA-EJ-7783-01A-11D-2114-08		166009709	25144567	10	4504											
TTC37	9652	broad.mit.edu	37	chr5	94848278	94848278	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctctgttgcttttatcttgCaatgttgtgcagacccaata	8	17	7	9	0	2	1	0	0	2	1	3	1	2	1	1	0	3	5	1	0	4	6			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr5:94848278C>T	ENST00000358746.2	-	28	3121	c.2823G>A	c.(2821-2823)ttG>ttA	p.L941L	TTC37_ENST00000515176.1_5'UTR	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	941							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						TTTTATCTTGCAATGTTGTGC	0.358													12	84					0	0	0.479597	0	0	T	94848278	C	T	94848278	2	4	80	1	0	0	0	0	0	0	0	1	16767	709	25	2		2	TTC37	5	94848278	Silent	SNP	C	TCGA-EJ-7783-01A-11D-2114-08		94848278	86066982	11	4505											
ADAMTS19	171019	broad.mit.edu	37	chr5	129037257	129037257	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgagggccaggactgcatgaCcgtgtgggaggcgggagtgt	7	7	20	7	2	0	2	0	2	0	0	0	5	0	5	2	5	1	1	2	5	0	0			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr5:129037257C>A	ENST00000274487.4	+	20	3258	c.3113C>A	c.(3112-3114)aCc>aAc	p.T1038N	CTC-575N7.1_ENST00000503616.1_RNA|ADAMTS19_ENST00000509467.1_3'UTR	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1038					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GACTGCATGACCGTGTGGGAG	0.567													14	85					2.4624e-09	2.9754e-09	0.575678	1	0	A	129037257	C	A	129037257	3	1	80	1	0	0	0	0	1	0	0	0	263	507	18	4	3191	4	ADAMTS19	5	129037257	Missense_Mutation	SNP	C	TCGA-EJ-7783-01A-11D-2114-08	34188979	129037257	51878003	12	4506											
SLC22A4	6583	broad.mit.edu	37	chr5	131630515	131630515	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcaacaacagtgtcccgcTgcggctgcgggacggccgcg	6	4	16	15	7	0	0	0	0	0	0	1	1	1	1	2	3	4	3	2	3	2	0			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr5:131630515T>A	ENST00000200652.3	+	1	380	c.206T>A	c.(205-207)cTg>cAg	p.L69Q	P4HA2_ENST00000471826.1_Intron	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	69					body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	AGTGTCCCGCTGCGGCTGCGG	0.726													8	15					0	0	0.361761	0	0	A	131630515	T	A	131630515	3	1	80	1	0	0	0	0	1	0	0	0	14511	1580	55	5	208	5	SLC22A4	5	131630515	Missense_Mutation	SNP	T	TCGA-EJ-7783-01A-11D-2114-08	2593258	131630515	49284745	13	4507											
PCDHA6	0	broad.mit.edu	37	chr5	140208013	140208013	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggaggtgatcgtggacaggCcgctgcaggttttccatgtg	6	11	16	8	2	0	1	0	1	0	0	2	3	1	3	2	5	1	3	2	5	0	2			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr5:140208013C>A	ENST00000529310.1	+	1	451	c.337C>A	c.(337-339)Ccg>Acg	p.P113T	PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.P113T|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGGACAGGCCGCTGCAGGT	0.562													22	218					1.17739e-12	1.45295e-12	0.693898	1	0	A	140208013	C	A	140208013	3	1	80	1	0	0	0	0	1	0	0	0	11575	739	26	4	339	4	PCDHA6	5	140208013	Missense_Mutation	SNP	C	TCGA-EJ-7783-01A-11D-2114-08	8577498	140208013	40707247	14	4508											
PCDHB4	0	broad.mit.edu	37	chr5	140501672	140501672	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggttcgcctcgagcctattcGttattctgtgttggaggaaa	7	14	12	8	3	1	0	0	0	1	0	4	3	1	2	2	3	1	3	2	3	3	6			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr5:140501672G>A	ENST00000194152.1	+	1	92	c.92G>A	c.(91-93)cGt>cAt	p.R31H		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		31					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGCCTATTCGTTATTCTGTG	0.527													5	73					0	0	0.217242	0	0	A	140501672	G	A	140501672	3	1	80	1	0	0	0	0	1	0	0	0	11591	1145	40	1	94	1	PCDHB4	5	140501672	Missense_Mutation	SNP	G	TCGA-EJ-7783-01A-11D-2114-08	293659	140501672	40413588	15	4509											
TCOF1	6949	broad.mit.edu	37	chr5	149755039	149755039	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccaggtggggaagtgggaGgaggactcagagagcagtag	11	4	20	6	0	1	1	1	0	0	1	1	6	1	5	1	6	1	2	1	6	2	1			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr5:149755039G>A	ENST00000451292.1	+	11	1734	c.1626G>A	c.(1624-1626)gaG>gaA	p.E542E	TCOF1_ENST00000513346.1_Silent_p.E542E|TCOF1_ENST00000323668.7_Silent_p.E465E|TCOF1_ENST00000377797.3_Silent_p.E542E|TCOF1_ENST00000504761.2_Silent_p.E542E|TCOF1_ENST00000445265.2_Silent_p.E465E|TCOF1_ENST00000439160.2_Silent_p.E542E|TCOF1_ENST00000394269.3_Silent_p.E542E			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	542					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGAAGTGGGAGGAGGACTCAG	0.662													9	45					0	0	0.361761	0	0	A	149755039	G	A	149755039	2	1	80	1	0	0	0	0	0	0	0	1	15768	991	35	2		2	TCOF1	5	149755039	Silent	SNP	G	TCGA-EJ-7783-01A-11D-2114-08	9253367	149755039	31160221	16	4510											
TRIM31	11074	broad.mit.edu	37	chr6	30071498	30071498	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgactttcccagcagacgAggcccgaaacagggagtggg	11	5	15	10	2	0	2	0	1	0	1	1	5	1	3	2	3	2	1	2	3	1	1			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr6:30071498A>C	ENST00000376734.3	-	9	1218	c.1093T>G	c.(1093-1095)Tcg>Gcg	p.S365A	TRIM31_ENST00000540829.1_Missense_Mutation_p.S365A	NM_007028.3	NP_008959.3	Q9BZY9	TRI31_HUMAN	tripartite motif containing 31	365						mitochondrion	ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						CCAGCAGACGAGGCCCGAAAC	0.527													14	139					0	0	0.539581	0	0	C	30071498	A	C	30071498	3	2	80	1	0	0	0	0	1	0	0	0	16566	304	11	5	188	5	TRIM31	6	30071498	Missense_Mutation	SNP	A	TCGA-EJ-7783-01A-11D-2114-08		30071498	141043569	17	4511											
MAP3K5	4217	broad.mit.edu	37	chr6	136990479	136990479	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagctgccaggaggaggacCgcataattaattcctgactg	11	8	11	11	1	0	1	0	1	0	0	1	4	1	4	4	3	2	2	4	3	2	3			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr6:136990479C>A	ENST00000359015.4	-	8	1668	c.1308G>T	c.(1306-1308)gcG>gcT	p.A436A		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	436					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		GGAGGAGGACCGCATAATTAA	0.378													28	109					2.47511e-08	2.87112e-08	0.729181	1	0	A	136990479	C	A	136990479	2	1	80	1	0	0	0	0	0	0	0	1	9303	639	23	4		4	MAP3K5	6	136990479	Silent	SNP	C	TCGA-EJ-7783-01A-11D-2114-08	106918981	136990479	34124588	18	4512											
TBX20	57057	broad.mit.edu	37	chr7	35242247	35242247	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagaaccctggatggggtgaGgaatgggtgttgctatggat	9	10	18	4	0	0	2	0	1	0	1	0	6	0	5	1	6	2	2	1	6	3	2			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr7:35242247G>A	ENST00000408931.3	-	8	1665	c.1139C>T	c.(1138-1140)cCt>cTt	p.P380L		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	380						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						GATGGGGTGAGGAATGGGTGT	0.562													7	66					0	0	0.307466	0	0	A	35242247	G	A	35242247	3	1	80	1	0	0	0	0	1	0	0	0	15716	1000	35	2	207	2	TBX20	7	35242247	Missense_Mutation	SNP	G	TCGA-EJ-7783-01A-11D-2114-08		35242247	123896416	19	4513											
ABCA13	154664	broad.mit.edu	37	chr7	48390275	48390275	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agatgtttaaccatgcaggcGctggacgcttccgtttcttg	7	13	11	10	3	1	1	0	0	1	1	2	2	2	2	2	2	2	5	2	2	1	5			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr7:48390275G>A	ENST00000435803.1	+	30	10264	c.10240G>A	c.(10240-10242)Gct>Act	p.A3414T		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3414					transport	integral to membrane	ATP binding|ATPase activity	p.A3359T(1)|p.A3414T(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CCATGCAGGCGCTGGACGCTT	0.522													19	100					0	0	0.592651	0	0	A	48390275	G	A	48390275	3	1	80	1	0	0	0	0	1	0	0	0	31	1087	38	1	10187	1	ABCA13	7	48390275	Missense_Mutation	SNP	G	TCGA-EJ-7783-01A-11D-2114-08	13148028	48390275	110748388	20	4514											
PGM5	5239	broad.mit.edu	37	chr9	70993145	70993145	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgattattggacagaatggcAtcttgtcgacacctgcggtc	9	12	11	9	2	1	2	0	1	1	1	3	4	1	3	1	3	1	1	1	3	2	3			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	c95e112d-dcf8-4bf7-b49b-bedc196d7cbf	g.chr9:70993145A>G	ENST00000396396.1	+	2	521	c.292A>G	c.(292-294)Atc>Gtc	p.I98V	PGM5_ENST00000396392.1_Missense_Mutation_p.I98V|PGM5_ENST00000604870.2_3'UTR	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	98					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity	p.I98V(3)		endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						ACAGAATGGCATCTTGTCGAC	0.478													4	64					0	0	0.217242	0	0	G	70993145	A	G	70993145	3	3	80	1	0	0	0	0	1	0	0	0	11849	217	8	3	298	3	PGM5	9	70993145	Missense_Mutation	SNP	A	TCGA-EJ-7783-01A-11D-2114-08		70993145	70220286	21	4515											
DHTKD1	55526	broad.mit.edu	37	chr10	12148384	12148384	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagatcatctttgacacatTcatctctggaggttggtgtc	8	14	9	10	0	4	2	2	1	2	1	6	3	4	3	1	3	0	1	1	3	0	3			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr10:12148384T>G	ENST00000263035.4	+	11	2098	c.2036T>G	c.(2035-2037)tTc>tGc	p.F679C		NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	679					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			TTTGACACATTCATCTCTGGA	0.537													13	196					0	0	0.520397	0	0	G	12148384	T	G	12148384	3	3	80	1	0	0	0	0	1	0	0	0	4528	1783	62	5	2078	5	DHTKD1	10	12148384	Missense_Mutation	SNP	T	TCGA-EJ-7783-01A-11D-2114-08		12148384	123386363	22	4516											
NT5C2	22978	broad.mit.edu	37	chr10	104849590	104849590	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgaaatccactgatgtgcGgttccgggtggcaagaggag	9	10	15	7	2	0	3	0	2	0	1	2	4	2	4	2	4	1	2	2	4	2	2			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr10:104849590G>A	ENST00000343289.5	-	18	1612	c.1525C>T	c.(1525-1527)Cgc>Tgc	p.R509C	NT5C2_ENST00000404739.3_Missense_Mutation_p.R509C|NT5C2_ENST00000369857.4_5'UTR|NT5C2_ENST00000423468.2_Missense_Mutation_p.R480C	NM_001134373.2|NM_012229.4	NP_001127845.1|NP_036361.1	P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II	509					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	ACTGATGTGCGGTTCCGGGTG	0.507													5	73					0	0	0.248553	0	0	A	104849590	G	A	104849590	3	1	80	1	0	0	0	0	1	0	0	0	10735	1116	39	1	164	1	NT5C2	10	104849590	Missense_Mutation	SNP	G	TCGA-EJ-7783-01A-11D-2114-08	92701206	104849590	30685157	23	4517											
SH3PXD2A	9644	broad.mit.edu	37	chr10	105361687	105361687	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctccagaacctccatggaCaccccctcctggaagcctgc	8	7	7	19	0	1	1	0	0	1	1	4	3	3	3	7	2	3	0	7	2	2	0	rs146300680		TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr10:105361687C>A	ENST00000369774.4	-	15	3564	c.3288G>T	c.(3286-3288)gtG>gtT	p.V1096V	SH3PXD2A_ENST00000540321.1_Silent_p.V963V|SH3PXD2A_ENST00000355946.2_Silent_p.V1068V|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000538130.1_Silent_p.V931V			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	1096	SH3 5.				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		CCTCCATGGACACCCCCTCCT	0.537													22	105					1.96895e-08	2.33059e-08	0.639603	1	0	A	105361687	C	A	105361687	2	1	80	1	0	0	0	0	0	0	0	1	14311	465	17	4		4	SH3PXD2A	10	105361687	Silent	SNP	C	TCGA-EJ-7783-01A-11D-2114-08	512097	105361687	30173060	24	4518											
FAT3	120114	broad.mit.edu	37	chr11	92086069	92086069	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcataaatgaacatgcccCaacaatccatgtagtcactc	14	8	6	13	1	1	1	1	1	0	0	3	1	2	1	3	0	3	2	3	0	6	2			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr11:92086069C>T	ENST00000298047.6	+	1	808	c.791C>T	c.(790-792)cCa>cTa	p.P264L	FAT3_ENST00000409404.2_Missense_Mutation_p.P264L|FAT3_ENST00000525166.1_Missense_Mutation_p.P114L|FAT3_ENST00000541502.1_Missense_Mutation_p.P264L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	264	Cadherin 2.|Cadherin 3.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GAACATGCCCCAACAATCCAT	0.443										TCGA Ovarian(4;0.039)			18	109					0	0	0.592651	0	0	T	92086069	C	T	92086069	3	4	80	1	0	0	0	0	1	0	0	0	5724	594	21	2	793	2	FAT3	11	92086069	Missense_Mutation	SNP	C	TCGA-EJ-7783-01A-11D-2114-08		92086069	42920447	25	4519											
ATM	472	broad.mit.edu	37	chr11	108121643	108121643	+	Frame_Shift_Del	DEL	G	G	-																															gtcagatttattaaaactctGgaataaaatttggtgtatta																										TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr11:108121643delG	ENST00000278616.4	+	10	1836	c.1451delG	c.(1450-1452)tgfs	p.W484fs	ATM_ENST00000452508.2_Frame_Shift_Del_p.W484fs	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	484					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TTAAAACTCTGGAATAAAATT	0.373			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			15	54	---	---	---	---						-	108121643	G	-	108121643	7	5	80	1	0	1	0	1	0	0	0	0	1108	1357	47	0	1485	0	ATM	11	108121643	Frame_Shift_Del	DEL	G	TCGA-EJ-7783-01A-11D-2114-08	16035574	108121643	26884873	26	4520											
SYT1	6857	broad.mit.edu	37	chr12	79611355	79611355	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgcctgtcaccactgtcgCgactgttctgccaagcaacg	7	8	9	17	4	2	0	1	0	1	0	3	1	2	0	4	0	3	2	4	0	2	1			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr12:79611355C>T	ENST00000261205.4	+	4	713	c.56C>T	c.(55-57)gCg>gTg	p.A19V	SYT1_ENST00000393240.3_Missense_Mutation_p.A19V|SYT1_ENST00000457153.2_Missense_Mutation_p.A19V|SYT1_ENST00000552744.1_Missense_Mutation_p.A19V	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	19					detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						ACCACTGTCGCGACTGTTCTG	0.527													11	62					0	0	0.38729	0	0	T	79611355	C	T	79611355	3	4	80	1	0	0	0	0	1	0	0	0	15522	768	27	1	58	1	SYT1	12	79611355	Missense_Mutation	SNP	C	TCGA-EJ-7783-01A-11D-2114-08		79611355	54240540	27	4521											
TMEM116	89894	broad.mit.edu	37	chr12	112369540	112369540	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtctgggtatctgcatcaCgccgagcctcctgctttagt	5	13	11	12	2	3	0	1	0	2	0	4	1	4	0	3	1	3	3	3	1	2	3			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr12:112369540C>T	ENST00000354825.3	-	13	1278	c.623G>A	c.(622-624)cGt>cAt	p.R208H	TMEM116_ENST00000552374.2_Missense_Mutation_p.R300H|TMEM116_ENST00000550831.3_Missense_Mutation_p.R208H|TMEM116_ENST00000549537.2_Missense_Mutation_p.R114H|TMEM116_ENST00000355445.3_Missense_Mutation_p.R265H|TMEM116_ENST00000437003.2_Missense_Mutation_p.R208H			Q8NCL8	TM116_HUMAN	transmembrane protein 116	208						integral to membrane				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)	8						ATCTGCATCACGCCGAGCCTC	0.493													5	100					0	0	0.248553	0	0	T	112369540	C	T	112369540	3	4	80	1	0	0	0	0	1	0	0	0	16090	536	19	1	118	1	TMEM116	12	112369540	Missense_Mutation	SNP	C	TCGA-EJ-7783-01A-11D-2114-08	32758185	112369540	21482355	28	4522											
FREM2	341640	broad.mit.edu	37	chr13	39265996	39265996	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgatgaagtgaaaatggaCagttttgagtttcaagtcac	14	12	11	4	0	2	4	2	4	0	0	2	6	2	5	0	1	0	2	0	1	4	3			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr13:39265996C>A	ENST00000280481.7	+	1	4731	c.4515C>A	c.(4513-4515)gaC>gaA	p.D1505E		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1505					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGAAAATGGACAGTTTTGAGT	0.468													4	111					0.014758	0.0164608	0.184627	1	0	A	39265996	C	A	39265996	3	1	80	1	0	0	0	0	1	0	0	0	6080	477	17	4	4517	4	FREM2	13	39265996	Missense_Mutation	SNP	C	TCGA-EJ-7783-01A-11D-2114-08		39265996	75903882	29	4523											
PCDH9	5101	broad.mit.edu	37	chr13	67801779	67801779	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttacagaggtacctacgggaGcattctctggaatatgcacc	11	10	10	10	1	1	1	0	0	1	1	2	3	1	3	2	3	5	3	2	3	5	5			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr13:67801779G>A	ENST00000544246.1	-	2	1485	c.794C>T	c.(793-795)gCt>gTt	p.A265V	PCDH9_ENST00000377861.3_Missense_Mutation_p.A265V|PCDH9_ENST00000377865.2_Missense_Mutation_p.A265V|PCDH9_ENST00000328454.5_Missense_Mutation_p.A265V|PCDH9_ENST00000456367.1_Missense_Mutation_p.A265V	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	265	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		ACCTACGGGAGCATTCTCTGG	0.483													13	81					0	0	0.500413	0	0	A	67801779	G	A	67801779	3	1	80	1	0	0	0	0	1	0	0	0	11565	971	34	2	2935	2	PCDH9	13	67801779	Missense_Mutation	SNP	G	TCGA-EJ-7783-01A-11D-2114-08	28535783	67801779	47368099	30	4524											
ZIC5	85416	broad.mit.edu	37	chr13	100622668	100622670	+	In_Frame_Del	DEL	GGC	GGC	-																															cgccgccggccgggggcggtGgcggcggcggcggcggcggc																								rs71114653		TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr13:100622668_100622670delGGC	ENST00000267294.4	-	1	1493_1495	c.1260_1262delGCC	c.(1258-1263)cca>cc	p.PP422del		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	422	Pro-rich.				cell differentiation	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					cgggggcggtggcggcggcggcg	0.724													3	3	---	---	---	---						-	100622670	GGC	-	100622668	7	5	80	1	0	1	0	1	0	0	0	0	17740	1348	47	0	737	0	ZIC5	13	100622668	In_Frame_Del	DEL	GGC	TCGA-EJ-7783-01A-11D-2114-08	32820889	100622668	14547210	31	4525											
KCNH5	27133	broad.mit.edu	37	chr14	63453899	63453899	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcaatcgggcaaatttcGtccaaccttaaaaataagga	15	10	8	8	2	1	0	1	0	0	0	4	1	2	1	2	2	1	1	2	2	7	3			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr14:63453899G>A	ENST00000322893.7	-	5	708	c.440C>T	c.(439-441)aCg>aTg	p.T147M	KCNH5_ENST00000394964.2_Missense_Mutation_p.T89M|KCNH5_ENST00000420622.2_Missense_Mutation_p.T147M|KCNH5_ENST00000394968.1_Missense_Mutation_p.T89M	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	147					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	p.T147M(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GGCAAATTTCGTCCAACCTTA	0.383													12	40					0	0	0.435327	0	0	A	63453899	G	A	63453899	3	1	80	1	0	0	0	0	1	0	0	0	8079	1145	40	1	2588	1	KCNH5	14	63453899	Missense_Mutation	SNP	G	TCGA-EJ-7783-01A-11D-2114-08		63453899	43895641	32	4526											
EIF5	1983	broad.mit.edu	37	chr14	103807368	103807368	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagacaacaaggatgacgaCatcgatattgatgccattta	15	10	8	8	2	1	3	1	2	0	1	2	6	1	4	1	1	2	0	1	1	4	4			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr14:103807368C>T	ENST00000216554.3	+	12	1951	c.1275C>T	c.(1273-1275)gaC>gaT	p.D425D	EIF5_ENST00000558506.1_Silent_p.D425D|EIF5_ENST00000392715.2_Silent_p.D425D	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	425	Asp-rich (acidic).				regulation of translational initiation|RNA metabolic process	cytosol	GTP binding|GTPase activity|translation initiation factor activity	p.D425fs*>5(1)		breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			AGGATGACGACATCGATATTG	0.398													6	80					0	0	0.27861	0	0	T	103807368	C	T	103807368	2	4	80	1	0	0	0	0	0	0	0	1	5068	477	17	2		2	EIF5	14	103807368	Silent	SNP	C	TCGA-EJ-7783-01A-11D-2114-08	40353469	103807368	3542172	33	4527											
ISLR	3671	broad.mit.edu	37	chr15	74467874	74467874	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgccgctgagccgcctgccGccactgccatgctcggcgcc	4	5	12	20	6	0	1	0	1	0	0	1	1	0	1	7	1	4	2	7	1	0	0			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr15:74467874G>A	ENST00000249842.3	+	2	1032	c.675G>A	c.(673-675)ccG>ccA	p.P225P	RP11-665J16.1_ENST00000561647.1_RNA|ISLR_ENST00000395118.1_Silent_p.P225P	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	225	LRRCT.				cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						GCCGCCTGCCGCCACTGCCAT	0.657													7	56					0	0	0.307466	0	0	A	74467874	G	A	74467874	2	1	80	1	0	0	0	0	0	0	0	1	7902	1074	38	1		1	ISLR	15	74467874	Silent	SNP	G	TCGA-EJ-7783-01A-11D-2114-08		74467874	28063518	34	4528											
WDR90	197335	broad.mit.edu	37	chr16	703785	703785	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttctctgcggggttggcaaGgaccaccacgggaggacggt	7	7	16	11	3	1	0	0	0	1	0	2	3	1	3	2	7	1	2	2	7	1	2			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr16:703785G>A	ENST00000549091.1	+	13	1511	c.1419G>A	c.(1417-1419)aaG>aaA	p.K473K	WDR90_ENST00000293879.4_Silent_p.K473K	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	473										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GGGTTGGCAAGGACCACCACG	0.642													3	77					0	0	0.115264	0	0	A	703785	G	A	703785	2	1	80	1	0	0	0	0	0	0	0	1	17397	991	35	2		2	WDR90	16	703785	Silent	SNP	G	TCGA-EJ-7783-01A-11D-2114-08		703785	89650968	35	4529											
SEPHS2	22928	broad.mit.edu	37	chr16	30456579	30456579	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgtagaggtcactcagcacgTtggcacaagctatgcgcccc	9	7	11	14	3	2	1	2	0	0	1	2	1	2	1	2	2	3	5	2	2	3	3			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr16:30456579T>A	ENST00000478753.2	-	1	923	c.470A>T	c.(469-471)aAc>aTc	p.N157I	SEPHS2_ENST00000500504.2_Missense_Mutation_p.N157I|SEPHS2_ENST00000542752.1_Missense_Mutation_p.N100I			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	157					selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						ACTCAGCACGTTGGCACAAGC	0.542													16	92					0	0	0.539581	0	0	A	30456579	T	A	30456579	3	1	80	1	0	0	0	0	1	0	0	0	14109	1725	60	5	880	5	SEPHS2	16	30456579	Missense_Mutation	SNP	T	TCGA-EJ-7783-01A-11D-2114-08	29752794	30456579	59898174	36	4530											
MAP2K4	6416	broad.mit.edu	37	chr17	12032526	12032526	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatcaactaacacaagtcgTgaaaggagatcctccgcagc	14	7	9	11	2	1	3	1	2	0	1	4	4	3	3	2	1	3	1	2	1	4	1			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr17:12032526T>A	ENST00000415385.3	+	10	1048	c.995T>A	c.(994-996)gTg>gAg	p.V332E	MAP2K4_ENST00000353533.5_Missense_Mutation_p.V321E			P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	321	Protein kinase.				cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.0?(10)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		ACACAAGTCGTGAAAGGAGAT	0.413			"D, Mis, N"		"pancreatic, breast, colorectal"								14	62					0	0	0.457914	0	0	A	12032526	T	A	12032526	3	1	80	1	0	0	0	0	1	0	0	0	9289	1696	59	5	996	5	MAP2K4	17	12032526	Missense_Mutation	SNP	T	TCGA-EJ-7783-01A-11D-2114-08		12032526	69162684	37	4531											
GAST	2520	broad.mit.edu	37	chr17	39871695	39871695	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctttgcagacgagatgcagCgactgtgtgtgtatgtgctg	7	12	14	8	2	0	2	0	0	0	2	0	4	0	2	1	0	4	4	1	0	1	2			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr17:39871695C>T	ENST00000329402.3	+	2	74	c.7C>T	c.(7-9)Cga>Tga	p.R3*	JUP_ENST00000540235.1_Intron	NM_000805.4	NP_000796.1	P01350	GAST_HUMAN	gastrin	3			R -> P (in dbSNP:rs34309618).			extracellular region	hormone activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7		Breast(137;0.000307)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			CGAGATGCAGCGACTGTGTGT	0.592													42	342					0	0	0.870114	0	0	T	39871695	C	T	39871695	4	4	80	1	0	0	0	0	0	1	0	0	6292	760	27	1	9	1	GAST	17	39871695	Nonsense_Mutation	SNP	C	TCGA-EJ-7783-01A-11D-2114-08	27839169	39871695	41323515	38	4532											
ELP2	55250	broad.mit.edu	37	chr18	33739979	33739979	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggcctgaagttcaaaaactGtaagttaaactgtatttagc	14	13	8	6	0	1	1	1	1	0	0	1	1	1	1	1	1	3	4	1	1	8	6			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr18:33739979G>T	ENST00000358232.6	+	16	1751		c.e16+1		ELP2_ENST00000351393.6_Splice_Site|ELP2_ENST00000542050.1_Intron|ELP2_ENST00000423854.2_Splice_Site|ELP2_ENST00000350494.6_Splice_Site|ELP2_ENST00000442325.2_Splice_Site|ELP2_ENST00000542824.1_Splice_Site	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2						regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						TTCAAAAACTGTAAGTTAAAC	0.383													5	55					0.307466	0.324237	0.307466	1	0	T	33739979	G	T	33739979	5	4	80	1	0	0	0	0	0	0	1	0	5108	1391	48	4	1751	4	ELP2	18	33739979	Splice_Site	SNP	G	TCGA-EJ-7783-01A-11D-2114-08		33739979	44337269	39	4533											
TXNL1	9352	broad.mit.edu	37	chr18	54278306	54278306	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcttgttgtttcctcttcaCcttgattcgactgaacaaat	8	18	5	10	1	3	2	1	2	2	0	5	3	4	2	2	0	1	2	2	0	2	7			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr18:54278306C>T	ENST00000217515.6	-	7	962	c.758G>A	c.(757-759)gGt>gAt	p.G253D	TXNL1_ENST00000590954.1_Missense_Mutation_p.G253D|TXNL1_ENST00000540155.1_Missense_Mutation_p.G130D	NM_004786.2	NP_004777.1	O43396	TXNL1_HUMAN	thioredoxin-like 1	253	PITH.				cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	cytoplasm	electron carrier activity|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211)		TTCCTCTTCACCTTGATTCGA	0.294													9	41					0	0	0.361761	0	0	T	54278306	C	T	54278306	3	4	80	1	0	0	0	0	1	0	0	0	16866	507	18	2	119	2	TXNL1	18	54278306	Missense_Mutation	SNP	C	TCGA-EJ-7783-01A-11D-2114-08	20538327	54278306	23798942	40	4534											
FAM187B	148109	broad.mit.edu	37	chr19	35718888	35718888	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atggatcctaagggacagtcGagccacacaaattctgtctt	12	10	9	10	1	2	0	0	0	2	0	4	3	3	2	2	2	1	0	2	2	2	3			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr19:35718888G>A	ENST00000324675.3	-	1	744	c.696C>T	c.(694-696)ctC>ctT	p.L232L		NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	232						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						AGGGACAGTCGAGCCACACAA	0.502													6	21					0	0	0.248553	0	0	A	35718888	G	A	35718888	2	1	80	1	0	0	0	0	0	0	0	1	5544	1045	37	1		1	FAM187B	19	35718888	Silent	SNP	G	TCGA-EJ-7783-01A-11D-2114-08		35718888	23410095	41	4535											
CYP2B6	1555	broad.mit.edu	37	chr19	41512860	41512860	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtccattaccgccaacatcAtctgctccatcgtctttgga	9	12	6	14	2	3	0	1	0	2	0	6	1	5	1	4	1	3	1	4	1	2	2			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr19:41512860A>G	ENST00000324071.4	+	4	542	c.535A>G	c.(535-537)Atc>Gtc	p.I179V	CYP2B6_ENST00000330446.5_Intron|CYP2B6_ENST00000593831.1_Intron|CYP2B6_ENST00000598834.1_3'UTR	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	179					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	CGCCAACATCATCTGCTCCAT	0.498													3	42					0	0	0.115264	0	0	G	41512860	A	G	41512860	3	3	80	1	0	0	0	0	1	0	0	0	4187	217	8	3	549	3	CYP2B6	19	41512860	Missense_Mutation	SNP	A	TCGA-EJ-7783-01A-11D-2114-08	5793972	41512860	17616123	42	4536											
PRKCG	5582	broad.mit.edu	37	chr19	54395835	54395835	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgggaccggacctcccgcaaCgacttcatgggggccatgtc	7	7	13	14	3	1	0	1	0	0	0	3	3	2	2	4	4	1	1	4	4	1	1			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr19:54395835C>T	ENST00000263431.3	+	7	1041	c.759C>T	c.(757-759)aaC>aaT	p.N253N	PRKCG_ENST00000540413.1_Silent_p.N253N|PRKCG_ENST00000536044.1_Silent_p.N253N|PRKCG_ENST00000542049.1_Silent_p.N140N	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	253	C2.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		CCTCCCGCAACGACTTCATGG	0.672													8	37					0	0	0.361761	0	0	T	54395835	C	T	54395835	2	4	80	1	0	0	0	0	0	0	0	1	12564	535	19	1		1	PRKCG	19	54395835	Silent	SNP	C	TCGA-EJ-7783-01A-11D-2114-08	12882975	54395835	4733148	43	4537											
SULF2	55959	broad.mit.edu	37	chr20	46301041	46301041	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccgtagtacttgggcaCgaggttggagagggctctgc	6	9	16	10	2	1	1	0	0	1	1	1	3	1	1	1	4	3	5	1	4	2	4	rs140635355		TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr20:46301041C>T	ENST00000359930.4	-	11	2328	c.1477G>A	c.(1477-1479)Gtg>Atg	p.V493M	SULF2_ENST00000484875.1_Missense_Mutation_p.V493M|SULF2_ENST00000467815.1_Missense_Mutation_p.V493M|SULF2_ENST00000361612.4_Missense_Mutation_p.V493M	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	493					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						TACTTGGGCACGAGGTTGGAG	0.627													28	80					0	0	0.769981	0	0	T	46301041	C	T	46301041	3	4	80	1	0	0	0	0	1	0	0	0	15427	536	19	1	1179	1	SULF2	20	46301041	Missense_Mutation	SNP	C	TCGA-EJ-7783-01A-11D-2114-08		46301041	16724479	44	4538											
SNAI1	6615	broad.mit.edu	37	chr20	48600754	48600754	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccttcaactgcaaatactGcaacaaggaatacctcagcc	14	7	7	13	0	2	0	2	0	0	0	2	1	2	1	3	2	7	2	3	2	7	3			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr20:48600754G>T	ENST00000244050.2	+	2	537	c.476G>T	c.(475-477)tGc>tTc	p.C159F		NM_005985.3	NP_005976.2	O95863	SNAI1_HUMAN	snail family zinc finger 1	159					epithelial to mesenchymal transition|mesoderm formation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	kinase binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)	17			BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			TGCAAATACTGCAACAAGGAA	0.602													3	34					0.115264	0.126138	0.115264	1	0	T	48600754	G	T	48600754	3	4	80	1	0	0	0	0	1	0	0	0	14880	1319	46	4	482	4	SNAI1	20	48600754	Missense_Mutation	SNP	G	TCGA-EJ-7783-01A-11D-2114-08	2299713	48600754	14424766	45	4539											
CARD10	29775	broad.mit.edu	37	chr22	37888774	37888774	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcagacaccagtagcggccGcaccaaactgtagggtctga	11	5	13	12	2	1	2	0	1	1	1	1	2	1	2	3	3	2	4	3	3	3	2			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr22:37888774G>A	ENST00000403299.1	-	18	2728	c.2512C>T	c.(2512-2514)Cgg>Tgg	p.R838W	CARD10_ENST00000406271.3_Missense_Mutation_p.R552W|CARD10_ENST00000251973.5_Missense_Mutation_p.R838W			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	838					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity	p.R838W(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					AGTAGCGGCCGCACCAAACTG	0.657													3	49					0	0	0.115264	0	0	A	37888774	G	A	37888774	3	1	80	1	0	0	0	0	1	0	0	0	2662	1086	38	1	602	1	CARD10	22	37888774	Missense_Mutation	SNP	G	TCGA-EJ-7783-01A-11D-2114-08		37888774	13415792	46	4540											
TCF20	6942	broad.mit.edu	37	chr22	42609619	42609619	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtctggggggttcattctGagcaccttgtgccggtgagg	5	11	17	8	1	3	2	1	2	2	0	3	3	3	2	2	5	2	2	2	5	0	3			TCGA-EJ-7783-01A-11D-2114-08	TCGA-EJ-7783-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9221a776-a241-48a2-b486-98902a8628f8	2ef588a2-879b-49c7-b880-227f72467804	g.chr22:42609619G>T	ENST00000359486.3	-	1	1829	c.1693C>A	c.(1693-1695)Cag>Aag	p.Q565K	TCF20_ENST00000335626.4_Missense_Mutation_p.Q565K	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	565					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GGTTCATTCTGAGCACCTTGT	0.582													4	66					0.150653	0.161813	0.150653	1	0	T	42609619	G	T	42609619	3	4	80	1	0	0	0	0	1	0	0	0	15750	1299	45	4	4227	4	TCF20	22	42609619	Missense_Mutation	SNP	G	TCGA-EJ-7783-01A-11D-2114-08	4720845	42609619	8694947	47	4541											
MMACHC	25974	broad.mit.edu	37	chr1	45974618	45974618	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgaccgtatcgccctactcGaaggcttcaatttccactgg	8	11	8	14	3	1	1	1	1	0	0	4	2	2	1	3	2	1	2	3	2	4	4			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr1:45974618G>A	ENST00000401061.4	+	4	860	c.580G>A	c.(580-582)Gaa>Aaa	p.E194K		NM_015506.2	NP_056321.2	Q9Y4U1	MMAC_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria	194							cobalamin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8	Acute lymphoblastic leukemia(166;0.155)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CGCCCTACTCGAAGGCTTCAA	0.562													11	138					0	0	0.411799	0	0	A	45974618	G	A	45974618	3	1	81	1	0	0	0	0	1	0	0	0	9689	1059	37	1	594	1	MMACHC	1	45974618	Missense_Mutation	SNP	G	TCGA-EJ-7784-01A-11D-2114-08		45974618	203276003	1	4542											
EFCAB7	84455	broad.mit.edu	37	chr1	64022884	64022884	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaattgagaacaagtggtgaGaaatgtgatgaagatgcttg	15	10	14	2	0	0	5	0	4	0	3	0	8	0	5	0	1	2	1	0	1	5	2			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr1:64022884G>A	ENST00000371088.4	+	10	1560	c.1314G>A	c.(1312-1314)gaG>gaA	p.E438E	EFCAB7_ENST00000461039.1_3'UTR	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	438	EF-hand 3.						calcium ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						CAAGTGGTGAGAAATGTGATG	0.318													3	37					0	0	0.150653	0	0	A	64022884	G	A	64022884	2	1	81	1	0	0	0	0	0	0	0	1	4966	933	33	2		2	EFCAB7	1	64022884	Silent	SNP	G	TCGA-EJ-7784-01A-11D-2114-08	18048266	64022884	185227737	2	4543											
DNASE2B	58511	broad.mit.edu	37	chr1	84880355	84880356	+	Frame_Shift_Ins	INS	-	-	T																															attaaattatcacgacactcINSttatttcagttcttatcaag																										TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr1:84880355_84880356insT	ENST00000370665.3	+	6	923_924	c.890_891insT	c.(889-891)ttafs	p.L297fs	DNASE2B_ENST00000370662.3_Frame_Shift_Ins_p.L89fs	NM_021233.2	NP_067056.2	Q8WZ79	DNS2B_HUMAN	deoxyribonuclease II beta	297					DNA metabolic process	lysosome	deoxyribonuclease II activity			endometrium(1)|lung(4)|skin(1)	6				all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)		TCACGACACTCTTATTTCAGTT	0.406													18	54	---	---	---	---						T	84880356	-	T	84880355	7	5	81	1	0	1	1	0	0	0	0	0	4692	913	32	0	912	0	DNASE2B	1	84880355	Frame_Shift_Ins	INS	-	TCGA-EJ-7784-01A-11D-2114-08	20857471	84880355	164370266	3	4544											
KPRP	448834	broad.mit.edu	37	chr1	152733398	152733398	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcactacgtccaacaccgcGgccagttccccttcctcgcc	7	7	7	20	4	0	0	0	0	0	0	4	0	3	0	7	1	3	2	7	1	2	3			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr1:152733398G>A	ENST00000368773.1	+	2	1392	c.1334G>A	c.(1333-1335)cGg>cAg	p.R445Q	KPRP_ENST00000606109.1_Missense_Mutation_p.R445Q	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	445	Pro-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAACACCGCGGCCAGTTCCC	0.582													78	157					0	0	0.870114	0	0	A	152733398	G	A	152733398	3	1	81	1	0	0	0	0	1	0	0	0	8479	1116	39	1	1336	1	KPRP	1	152733398	Missense_Mutation	SNP	G	TCGA-EJ-7784-01A-11D-2114-08	67853043	152733398	96517223	4	4545											
DENND4B	9909	broad.mit.edu	37	chr1	153907309	153907309	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgttgCtgctgctgctgctgttgccg	0	15	14	12	1	0	0	0	0	0	0	0	0	0	0	1	0	11	12	1	0	0	2			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr1:153907309C>T	ENST00000361217.4	-	18	3118	c.2700G>A	c.(2698-2700)caG>caA	p.Q900Q		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	900	Gln-rich.							p.Q788Q(1)|p.Q900Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			gctgctgttgctgctgctgct	0.642													4	75					0	0	0.217242	0	0	T	153907309	C	T	153907309	2	4	81	1	0	0	0	0	0	0	0	1	4462	796	28	2		2	DENND4B	1	153907309	Silent	SNP	C	TCGA-EJ-7784-01A-11D-2114-08	1173911	153907309	95343312	5	4546											
OR10K1	391109	broad.mit.edu	37	chr1	158436009	158436009	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatcctagtctcctacatcCgcatcatctctgccattcta	8	15	3	15	1	4	0	1	0	3	0	8	0	6	0	4	0	2	1	4	0	4	5			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr1:158436009C>T	ENST00000289451.2	+	1	738	c.658C>T	c.(658-660)Cgc>Tgc	p.R220C		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					CTCCTACATCCGCATCATCTC	0.478													21	82					0	0	0.639603	0	0	T	158436009	C	T	158436009	3	4	81	1	0	0	0	0	1	0	0	0	10961	652	23	1	660	1	OR10K1	1	158436009	Missense_Mutation	SNP	C	TCGA-EJ-7784-01A-11D-2114-08	4528700	158436009	90814612	6	4547											
PRG4	10216	broad.mit.edu	37	chr1	186276370	186276370	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaccactcccaaggagcctGcacccaccaccaccaaggag	12	2	7	20	0	0	0	0	0	0	0	1	2	1	2	8	2	2	1	8	2	2	0			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr1:186276370G>A	ENST00000445192.2	+	7	1564	c.1519G>A	c.(1519-1521)Gca>Aca	p.A507T	PRG4_ENST00000367485.4_Missense_Mutation_p.A414T|PRG4_ENST00000367486.3_Missense_Mutation_p.A464T|PRG4_ENST00000367483.4_Missense_Mutation_p.A466T|PRG4_ENST00000367484.3_Intron	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	507	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CAAGGAGCCTGCACCCACCAC	0.652													4	124					0	0	0.150653	0	0	A	186276370	G	A	186276370	3	1	81	1	0	0	0	0	1	0	0	0	12533	1319	46	2	1541	2	PRG4	1	186276370	Missense_Mutation	SNP	G	TCGA-EJ-7784-01A-11D-2114-08	27840361	186276370	62974251	7	4548											
MIA3	375056	broad.mit.edu	37	chr1	222835673	222835673	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagggtactcgatgaaggcaAggtaaatgcacccattttga	13	9	11	8	1	0	2	0	2	0	0	1	3	0	2	1	3	2	4	1	3	5	4			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr1:222835673A>G	ENST00000344922.5	+	26	5286	c.5262_splice	c.e26+1	p.K1754_splice	MIA3_ENST00000344441.6_Splice_Site_p.K1754_splice|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000340535.7_Splice_Site_p.K632_splice	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1754	Pro-rich.			K -> R (in Ref. 2; BAH12416).	exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		GATGAAGGCAAGGTAAATGCA	0.428													4	236					0	0	0.184627	0	0	G	222835673	A	G	222835673	5	3	81	1	0	0	0	0	0	0	1	0	9614	86	3	3	5363	3	MIA3	1	222835673	Splice_Site	SNP	A	TCGA-EJ-7784-01A-11D-2114-08	36559303	222835673	26414948	8	4549											
DISP1	84976	broad.mit.edu	37	chr1	223163994	223163994	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccctgatagccgactggccGgtggtggtcttgggcatgtg	4	10	17	10	2	1	1	0	1	1	0	1	2	1	1	3	5	1	1	3	5	1	2	rs139326650		TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr1:223163994G>A	ENST00000284476.6	+	4	731	c.567G>A	c.(565-567)ccG>ccA	p.P189P	DISP1_ENST00000495684.1_3'UTR	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	189					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		CCGACTGGCCGGTGGTGGTCT	0.493													4	188					0	0	0.184627	0	0	A	223163994	G	A	223163994	2	1	81	1	0	0	0	0	0	0	0	1	4567	1103	39	1		1	DISP1	1	223163994	Silent	SNP	G	TCGA-EJ-7784-01A-11D-2114-08	328321	223163994	26086627	9	4550											
RYR2	6262	broad.mit.edu	37	chr1	237754210	237754210	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctagtgcccgatcgtgttGacaaagacaaagaagctact	14	9	9	9	2	1	3	0	1	1	2	2	4	1	3	1	0	3	2	1	0	5	3			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr1:237754210G>T	ENST00000366574.2	+	31	4395	c.4078G>T	c.(4078-4080)Gac>Tac	p.D1360Y	RYR2_ENST00000542537.1_Missense_Mutation_p.D1344Y|RYR2_ENST00000360064.6_Missense_Mutation_p.D1358Y	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1360	4 X approximate repeats.|B30.2/SPRY 3.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CGATCGTGTTGACAAAGACAA	0.423													18	41					2.35188e-11	2.72818e-11	0.539581	1	0	T	237754210	G	T	237754210	3	4	81	1	0	0	0	0	1	0	0	0	13821	1290	45	4	4200	4	RYR2	1	237754210	Missense_Mutation	SNP	G	TCGA-EJ-7784-01A-11D-2114-08	14590216	237754210	11496411	10	4551											
OR2T12	127064	broad.mit.edu	37	chr1	248458842	248458842	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctggtgtggttaaagagtccTaggagaataaaatctggggt	12	11	14	4	0	1	2	0	0	1	2	2	3	2	2	1	5	0	1	1	5	6	3			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr1:248458842T>C	ENST00000317996.1	-	1	38	c.39A>G	c.(37-39)ctA>ctG	p.L13L		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L13L(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			TAAAGAGTCCTAGGAGAATAA	0.448													5	190					0	0	0.248553	0	0	C	248458842	T	C	248458842	2	2	81	1	0	0	0	0	0	0	0	1	11067	1509	53	3		3	OR2T12	1	248458842	Silent	SNP	T	TCGA-EJ-7784-01A-11D-2114-08	10704632	248458842	791779	11	4552											
SOX11	6664	broad.mit.edu	37	chr2	5833182	5833182	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggctgcggctcaagcacaTggccgactaccccgactaca	9	5	11	16	4	1	0	1	0	0	0	1	2	1	0	3	3	4	3	3	3	3	2			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr2:5833182T>A	ENST00000322002.3	+	1	384	c.329T>A	c.(328-330)aTg>aAg	p.M110K		NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	110					cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		CTCAAGCACATGGCCGACTAC	0.642													3	45					0	0	0.115264	0	0	A	5833182	T	A	5833182	3	1	81	1	0	0	0	0	1	0	0	0	14996	1464	51	5	331	5	SOX11	2	5833182	Missense_Mutation	SNP	T	TCGA-EJ-7784-01A-11D-2114-08		5833182	237366191	12	4553											
MRPL19	9801	broad.mit.edu	37	chr2	75879653	75879653	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttttgaatttgtaggaagTattcttcgtgttactacagc	9	18	8	6	1	2	1	0	1	2	0	3	2	2	2	0	1	3	3	0	1	6	9			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr2:75879653T>C	ENST00000393909.2	+	4	370	c.345T>C	c.(343-345)agT>agC	p.S115S	MRPL19_ENST00000358788.6_Silent_p.S115S|MRPL19_ENST00000409374.1_Silent_p.S115S	NM_014763.3	NP_055578.2	P49406	RM19_HUMAN	mitochondrial ribosomal protein L19	115					translation	mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome			kidney(1)|large_intestine(1)|lung(6)	8						TTGTAGGAAGTATTCTTCGTG	0.383													62	61					0	0	0.870114	0	0	C	75879653	T	C	75879653	2	2	81	1	0	0	0	0	0	0	0	1	9833	1635	57	3		3	MRPL19	2	75879653	Silent	SNP	T	TCGA-EJ-7784-01A-11D-2114-08	70046471	75879653	167319720	13	4554											
NEB	4703	broad.mit.edu	37	chr2	152521933	152521933	+	Frame_Shift_Del	DEL	G	G	-																															cttcagcttctcggggtgctGgcgatacttcttctcactaa																										TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr2:152521933delG	ENST00000427231.2	-	42	5354	c.5152delC	c.(5152-5154)agfs	p.Q1718fs	NEB_ENST00000172853.10_Frame_Shift_Del_p.Q1718fs|NEB_ENST00000603639.1_Frame_Shift_Del_p.Q1718fs|NEB_ENST00000409198.1_Frame_Shift_Del_p.Q1718fs|NEB_ENST00000604864.1_Frame_Shift_Del_p.Q1718fs|NEB_ENST00000397345.3_Frame_Shift_Del_p.Q1718fs	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	1718					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCGGGGTGCTGGCGATACTTC	0.493													21	16	---	---	---	---						-	152521933	G	-	152521933	7	5	81	1	0	1	0	1	0	0	0	0	10349	1357	47	0	21098	0	NEB	2	152521933	Frame_Shift_Del	DEL	G	TCGA-EJ-7784-01A-11D-2114-08	76642280	152521933	90677440	14	4555											
PLA2R1	0	broad.mit.edu	37	chr2	160824131	160824132	+	Frame_Shift_Ins	INS	-	-	T																															ttttctctatgagccaaaccINSttttttcgcttacagatact																										TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr2:160824131_160824132insT	ENST00000283243.7	-	20	3028_3029	c.2822_2823insA	c.(2821-2823)agtfs	p.S941fs	PLA2R1_ENST00000392771.1_Frame_Shift_Ins_p.S941fs	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	941					endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						TGAGCCAAACCTTTTTTCGCTT	0.391													29	22	---	---	---	---						T	160824132	-	T	160824131	7	5	81	1	0	1	1	0	0	0	0	0	12058	680	24	0	1620	0	PLA2R1	2	160824131	Frame_Shift_Ins	INS	-	TCGA-EJ-7784-01A-11D-2114-08	8302198	160824131	82375242	15	4556											
CXCR2	3579	broad.mit.edu	37	chr2	218999837	218999837	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccctgaccttgcccatctggGccgcctccaaggtgaatggc	6	8	11	16	1	1	2	0	2	1	0	2	2	2	2	6	3	1	0	6	3	2	1			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr2:218999837G>C	ENST00000318507.2	+	3	740	c.313G>C	c.(313-315)Gcc>Ccc	p.A105P		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	105					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						GCCCATCTGGGCCGCCTCCAA	0.552													52	86					0	0	0.870114	0	0	C	218999837	G	C	218999837	3	2	81	1	0	0	0	0	1	0	0	0	4114	1203	42	4	315	4	CXCR2	2	218999837	Missense_Mutation	SNP	G	TCGA-EJ-7784-01A-11D-2114-08	58175706	218999837	24199536	16	4557											
PASK	23178	broad.mit.edu	37	chr2	242080067	242080067	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggacacactgccccgcggttCggacgggtccgtgtgctcag	5	7	15	14	5	1	0	1	0	0	0	3	2	2	2	3	4	2	2	3	4	0	1			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr2:242080067C>T	ENST00000403638.3	-	3	389	c.298G>A	c.(298-300)Gaa>Aaa	p.E100K	PASK_ENST00000234040.4_Missense_Mutation_p.E100K|PASK_ENST00000358649.4_Missense_Mutation_p.E100K|PASK_ENST00000544142.1_Intron|PASK_ENST00000405260.1_Missense_Mutation_p.E100K|PASK_ENST00000539818.1_Intron	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	100					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	p.E100K(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CCCCGCGGTTCGGACGGGTCC	0.597													8	78					0	0	0.335167	0	0	T	242080067	C	T	242080067	3	4	81	1	0	0	0	0	1	0	0	0	11519	893	31	1	3737	1	PASK	2	242080067	Missense_Mutation	SNP	C	TCGA-EJ-7784-01A-11D-2114-08	23080230	242080067	1119306	17	4558											
TRAK1	22906	broad.mit.edu	37	chr3	42242450	42242450	+	Frame_Shift_Del	DEL	C	C	-																															cctgtccagctgcgtcagcaCcccccggtccagcttctacg																										TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr3:42242450delC	ENST00000327628.5	+	12	1731	c.1331delC	c.(1330-1332)acfs	p.T444fs	TRAK1_ENST00000341421.3_Frame_Shift_Del_p.T386fs|TRAK1_ENST00000449246.1_Frame_Shift_Del_p.T370fs|TRAK1_ENST00000396175.1_Frame_Shift_Del_p.T386fs|TRAK1_ENST00000487159.1_3'UTR	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	444	Interaction with HGS.				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						TGCGTCAGCACCCCCCGGTCC	0.592													7	289	---	---	---	---						-	42242450	C	-	42242450	7	5	81	1	0	1	0	1	0	0	0	0	16510	507	18	0	1493	0	TRAK1	3	42242450	Frame_Shift_Del	DEL	C	TCGA-EJ-7784-01A-11D-2114-08		42242450	155779980	18	4559											
DNAH1	25981	broad.mit.edu	37	chr3	52402841	52402841	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggtacatgttcgatgggccGgtggatgccatctggattga	7	12	15	7	2	1	1	0	1	1	0	2	4	1	3	2	5	2	2	2	5	1	3			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr3:52402841G>A	ENST00000420323.2	+	37	6111	c.5850G>A	c.(5848-5850)ccG>ccA	p.P1950P		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1950	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCGATGGGCCGGTGGATGCCA	0.572													4	241					0	0	0.150653	0	0	A	52402841	G	A	52402841	2	1	81	1	0	0	0	0	0	0	0	1	4625	1103	39	1		1	DNAH1	3	52402841	Silent	SNP	G	TCGA-EJ-7784-01A-11D-2114-08	10160391	52402841	145619589	19	4560											
WNT5A	7474	broad.mit.edu	37	chr3	55508372	55508372	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acgcggcactcaccctgcggCcggcctcgttgttgtgcagg	4	8	14	15	5	1	0	1	0	0	0	2	0	1	0	3	4	2	4	3	4	0	2			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr3:55508372C>T	ENST00000474267.1	-	5	1198	c.677G>A	c.(676-678)gGc>gAc	p.G226D	WNT5A_ENST00000264634.4_Missense_Mutation_p.G226D|WNT5A_ENST00000497027.1_Missense_Mutation_p.G211D			P41221	WNT5A_HUMAN	wingless-type MMTV integration site family, member 5A	226					activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		CACCCTGCGGCCGGCCTCGTT	0.672													7	46					0	0	0.335167	0	0	T	55508372	C	T	55508372	3	4	81	1	0	0	0	0	1	0	0	0	17451	739	26	2	473	2	WNT5A	3	55508372	Missense_Mutation	SNP	C	TCGA-EJ-7784-01A-11D-2114-08	3105531	55508372	142514058	20	4561											
FSTL1	11167	broad.mit.edu	37	chr3	120130764	120130764	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggcaggcatctcgatgcaGttcacagtggttgaggtagg	9	9	16	7	1	2	1	1	1	1	0	3	3	2	1	0	5	1	6	0	5	1	3			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr3:120130764G>A	ENST00000295633.3	-	4	591	c.235C>T	c.(235-237)Ctg>Ttg	p.L79L	FSTL1_ENST00000424703.2_Silent_p.L44L	NM_007085.4	NP_009016.1	Q12841	FSTL1_HUMAN	follistatin-like 1	79	Kazal-like.				BMP signaling pathway	extracellular space	calcium ion binding|heparin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		TCTCGATGCAGTTCACAGTGG	0.493													4	157					0	0	0.184627	0	0	A	120130764	G	A	120130764	2	1	81	1	0	0	0	0	0	0	0	1	6112	1020	36	2		2	FSTL1	3	120130764	Silent	SNP	G	TCGA-EJ-7784-01A-11D-2114-08	64622392	120130764	77891666	21	4562											
IGSF10	285313	broad.mit.edu	37	chr3	151163868	151163868	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acttgagtctttgcttataaTactaggaagcatagggttaa	13	14	9	5	0	1	1	0	1	1	0	1	2	1	2	0	2	3	3	0	2	7	8			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr3:151163868T>C	ENST00000282466.3	-	4	3900	c.3901A>G	c.(3901-3903)Att>Gtt	p.I1301V		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1301					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTGCTTATAATACTAGGAAGC	0.443													86	94					0	0	0.870114	0	0	C	151163868	T	C	151163868	3	2	81	1	0	0	0	0	1	0	0	0	7641	1406	49	3	4030	3	IGSF10	3	151163868	Missense_Mutation	SNP	T	TCGA-EJ-7784-01A-11D-2114-08	31033104	151163868	46858562	22	4563											
MECOM	2122	broad.mit.edu	37	chr3	168834358	168834358	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccaaaaaatccacctgcCgcaaaatggttcttgccctc	11	9	7	14	1	1	0	0	0	1	0	3	0	2	0	5	2	2	2	5	2	5	2			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr3:168834358C>G	ENST00000464456.1	-	7	1938	c.738G>C	c.(736-738)gcG>gcC	p.A246A	MECOM_ENST00000494292.1_Silent_p.A434A|MECOM_ENST00000460814.1_Silent_p.A246A|MECOM_ENST00000433243.2_Silent_p.A247A|MECOM_ENST00000472280.1_Silent_p.A247A|MECOM_ENST00000468789.1_Silent_p.A246A|MECOM_ENST00000264674.3_Silent_p.A311A|MECOM_ENST00000392736.3_Silent_p.A246A	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						ATCCACCTGCCGCAAAATGGT	0.468													12	159					0	0	0.411799	0	0	G	168834358	C	G	168834358	2	3	81	1	0	0	0	0	0	0	0	1	9472	639	23	4		4	MECOM	3	168834358	Silent	SNP	C	TCGA-EJ-7784-01A-11D-2114-08	17670490	168834358	29188072	23	4564											
DNAJB11	51726	broad.mit.edu	37	chr3	186299282	186299282	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgacccaggaggtggtctgCgacgaatgccctaatgtcaa	11	8	12	10	2	2	1	1	1	1	0	2	4	2	2	2	3	2	0	2	3	3	1			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr3:186299282C>T	ENST00000439351.1	+	6	1508	c.579C>T	c.(577-579)tgC>tgT	p.C193C	DNAJB11_ENST00000265028.3_Silent_p.C193C			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	193					protein folding	endoplasmic reticulum lumen	heat shock protein binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		AGGTGGTCTGCGACGAATGCC	0.502													8	89					0	0	0.335167	0	0	T	186299282	C	T	186299282	2	4	81	1	0	0	0	0	0	0	0	1	4643	776	27	1		1	DNAJB11	3	186299282	Silent	SNP	C	TCGA-EJ-7784-01A-11D-2114-08	17464924	186299282	11723148	24	4565											
OTOP1	133060	broad.mit.edu	37	chr4	4199531	4199531	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaacatgatgagtgccgactCgctcttggtcttggagcgcc	7	10	13	11	3	2	2	0	2	2	0	3	5	2	3	2	2	3	1	2	2	1	2			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr4:4199531C>T	ENST00000296358.4	-	5	1054	c.1030G>A	c.(1030-1032)Gag>Aag	p.E344K		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	344					biomineral tissue development	extracellular space|integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AGTGCCGACTCGCTCTTGGTC	0.577													32	62					0	0	0.853193	0	0	T	4199531	C	T	4199531	3	4	81	1	0	0	0	0	1	0	0	0	11352	893	31	1	816	1	OTOP1	4	4199531	Missense_Mutation	SNP	C	TCGA-EJ-7784-01A-11D-2114-08		4199531	186954745	25	4566											
ENOPH1	58478	broad.mit.edu	37	chr4	83376002	83376002	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctacggagggagatattCttgaggtaggttacctagtt	10	14	12	5	1	2	2	0	1	2	1	2	4	2	3	1	4	2	3	1	4	5	9			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr4:83376002C>A	ENST00000273920.3	+	4	785	c.517C>A	c.(517-519)Ctt>Att	p.L173I	ENOPH1_ENST00000509635.1_Missense_Mutation_p.L85I	NM_021204.3	NP_067027.1	Q9UHY7	ENOPH_HUMAN	enolase-phosphatase 1	173					L-methionine salvage from methylthioadenosine	cytoplasm|nucleus	2,3-diketo-5-methylthiopentyl-1-phosphate enolase activity|2-hydroxy-3-keto-5-methylthiopentenyl-1-phosphate phosphatase activity|acireductone synthase activity|magnesium ion binding|phosphoglycolate phosphatase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|skin(1)	13						GGGAGATATTCTTGAGGTAGG	0.398													4	176					0.150653	0.15984	0.150653	1	0	A	83376002	C	A	83376002	3	1	81	1	0	0	0	0	1	0	0	0	5152	913	32	4	531	4	ENOPH1	4	83376002	Missense_Mutation	SNP	C	TCGA-EJ-7784-01A-11D-2114-08	79176471	83376002	107778274	26	4567											
METTL14	57721	broad.mit.edu	37	chr4	119631282	119631282	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgagagacttcgaccaaaatCgcctcctcccaaatctaaat	14	9	5	13	2	1	2	0	1	1	1	5	4	3	2	4	0	0	0	4	0	5	2			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr4:119631282C>T	ENST00000388822.4	+	11	1363	c.1196C>T	c.(1195-1197)tCg>tTg	p.S399L	METTL14_ENST00000506780.1_Missense_Mutation_p.S361L			Q9HCE5	MTL14_HUMAN	methyltransferase like 14	399						nucleus	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						CGACCAAAATCGCCTCCTCCC	0.458													28	48					0	0	0.740014	0	0	T	119631282	C	T	119631282	3	4	81	1	0	0	0	0	1	0	0	0	9548	893	31	1	1238	1	METTL14	4	119631282	Missense_Mutation	SNP	C	TCGA-EJ-7784-01A-11D-2114-08	36255280	119631282	71522994	27	4568											
XRCC4	7518	broad.mit.edu	37	chr5	82499425	82499425	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagactgatctttataagcgGtttattctggtgttgaatga	10	16	11	4	1	2	4	0	3	2	1	2	5	2	4	0	2	1	2	0	2	4	7			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr5:82499425G>T	ENST00000282268.3	+	5	712	c.537G>T	c.(535-537)cgG>cgT	p.R179R	XRCC4_ENST00000511817.1_Silent_p.R179R|XRCC4_ENST00000338635.6_Silent_p.R179R|XRCC4_ENST00000509268.1_3'UTR|XRCC4_ENST00000396027.4_Silent_p.R179R	NM_003401.3|NM_022406.2|NM_022550.2	NP_003392.1|NP_071801.1|NP_072044.1	Q13426	XRCC4_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 4	179					DNA ligation involved in DNA repair|double-strand break repair via nonhomologous end joining|initiation of viral infection|positive regulation of ligase activity|provirus integration|response to X-ray	cytosol|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|nucleoplasm	DNA binding|protein C-terminus binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(2)|skin(3)	17		Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034)		OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28)		TTTATAAGCGGTTTATTCTGG	0.313								Non-homologous end-joining					10	83					4.68919e-08	5.29817e-08	0.361761	1	0	T	82499425	G	T	82499425	2	4	81	1	0	0	0	0	0	0	0	1	17515	1248	44	4		4	XRCC4	5	82499425	Silent	SNP	G	TCGA-EJ-7784-01A-11D-2114-08		82499425	98415835	28	4569											
ANKHD1	54882	broad.mit.edu	37	chr5	139887388	139887388	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggactgggagtaaactaggTatttctcccctgatgttggc	9	12	12	8	0	1	1	0	1	1	0	2	3	1	3	2	4	1	3	2	4	4	5			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr5:139887388T>A	ENST00000297183.6	+	20	3694	c.3570T>A	c.(3568-3570)ggT>ggA	p.G1190G	ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.G1190G|ANKHD1_ENST00000360839.2_Silent_p.G1190G	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTAAACTAGGTATTTCTCCCC	0.368													6	111					0	0	0.27861	0	0	A	139887388	T	A	139887388	2	1	81	1	0	0	0	0	0	0	0	1	624	1625	57	5		5	ANKHD1	5	139887388	Silent	SNP	T	TCGA-EJ-7784-01A-11D-2114-08	57387963	139887388	41027872	29	4570											
ATP10B	23120	broad.mit.edu	37	chr5	159992485	159992485	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggtcagtgaactctgggatCggcgatggctgctcctcttt	5	13	13	10	2	3	1	1	1	2	0	5	3	4	2	1	4	2	2	1	4	1	1			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr5:159992485C>T	ENST00000327245.5	-	26	5207	c.4361G>A	c.(4360-4362)cGa>cAa	p.R1454Q		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1454					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACTCTGGGATCGGCGATGGCT	0.532													4	165					0	0	0.184627	0	0	T	159992485	C	T	159992485	3	4	81	1	0	0	0	0	1	0	0	0	1116	884	31	1	28	1	ATP10B	5	159992485	Missense_Mutation	SNP	C	TCGA-EJ-7784-01A-11D-2114-08	20105097	159992485	20922775	30	4571											
MYLK4	340156	broad.mit.edu	37	chr6	2689172	2689172	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacgatgatcaaatggggccGgaggagccgggatgtcaact	11	7	15	8	3	2	1	2	1	0	0	2	5	2	4	2	5	3	0	2	5	3	1			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr6:2689172G>A	ENST00000274643.7	-	4	596	c.254C>T	c.(253-255)cCg>cTg	p.P85L	MYLK4_ENST00000268446.5_Missense_Mutation_p.P85L	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	85							ATP binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				AAATGGGGCCGGAGGAGCCGG	0.502													4	148					0	0	0.184627	0	0	A	2689172	G	A	2689172	3	1	81	1	0	0	0	0	1	0	0	0	10107	1116	39	1	948	1	MYLK4	6	2689172	Missense_Mutation	SNP	G	TCGA-EJ-7784-01A-11D-2114-08		2689172	168425895	31	4572											
C6orf62	81688	broad.mit.edu	37	chr6	24714586	24714586	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catcagattctttccacctaGaaaacaggagacagacgatt	15	9	7	10	1	2	4	1	0	1	4	3	6	3	4	2	1	1	0	2	1	3	4			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr6:24714586G>C	ENST00000378119.4	-	3	2556	c.389C>G	c.(388-390)tCt>tGt	p.S130C	C6orf62_ENST00000378102.3_Missense_Mutation_p.S101C|C6orf62_ENST00000540769.1_Missense_Mutation_p.S72C	NM_030939.4	NP_112201.1	Q9GZU0	CF062_HUMAN	chromosome 6 open reading frame 62	130						intracellular				endometrium(2)|kidney(3)|large_intestine(2)|lung(3)	10						TTTCCACCTAGAAAACAGGAG	0.343													15	81					0	0	0.539581	0	0	C	24714586	G	C	24714586	3	2	81	1	0	0	0	0	1	0	0	0	2383	942	33	4	312	4	C6orf62	6	24714586	Missense_Mutation	SNP	G	TCGA-EJ-7784-01A-11D-2114-08	22025414	24714586	146400481	32	4573											
PACSIN1	0	broad.mit.edu	37	chr6	34498308	34498308	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagaaggcagagggagtggcGctgaccaatgccactggggc	11	4	17	9	1	0	3	0	1	0	2	0	4	0	4	2	5	1	2	2	5	3	0			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr6:34498308G>A	ENST00000538621.1	+	8	1226	c.981G>A	c.(979-981)gcG>gcA	p.A327A	PACSIN1_ENST00000374043.2_Silent_p.A285A|PACSIN1_ENST00000244458.2_Silent_p.A327A	NM_001199583.1	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	327					endocytosis		protein kinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						AGGGAGTGGCGCTGACCAATG	0.637													3	25					0	0	0.115264	0	0	A	34498308	G	A	34498308	2	1	81	1	0	0	0	0	0	0	0	1	11421	1074	38	1		1	PACSIN1	6	34498308	Silent	SNP	G	TCGA-EJ-7784-01A-11D-2114-08	9783722	34498308	136616759	33	4574											
DNAH8	1769	broad.mit.edu	37	chr6	38875871	38875872	+	Frame_Shift_Ins	INS	-	-	A																															tcaagatcaaggaagaacttINSacatgttgttctctgctttt																										TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr6:38875871_38875872insA	ENST00000359357.3	+	62	9091_9092	c.8837_8838insA	c.(8836-8838)tcafs	p.S2946fs	DNAH8_ENST00000441566.1_Frame_Shift_Ins_p.S2910fs|DNAH8_ENST00000449981.2_Frame_Shift_Ins_p.S3163fs					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGGAAGAACTTACATGTTGTTC	0.356													7	39	---	---	---	---						A	38875872	-	A	38875871	7	5	81	1	0	1	1	0	0	0	0	0	4634	1764	61	0	9075	0	DNAH8	6	38875871	Frame_Shift_Ins	INS	-	TCGA-EJ-7784-01A-11D-2114-08	4377563	38875871	132239196	34	4575											
ZNF292	23036	broad.mit.edu	37	chr6	87966666	87966666	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccaggtcgagggatgtactCgaacctataattcttcacag	11	10	10	10	2	2	0	1	0	1	0	4	3	2	1	2	2	2	1	2	2	4	5			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr6:87966666C>T	ENST00000369577.3	+	8	3362	c.3319C>T	c.(3319-3321)Cga>Tga	p.R1107*	ZNF292_ENST00000339907.4_Nonsense_Mutation_p.R1102*	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1107					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GGGATGTACTCGAACCTATAA	0.443													5	47					0	0	0.184627	0	0	T	87966666	C	T	87966666	4	4	81	1	0	0	0	0	0	1	0	0	17883	876	31	1	3349	1	ZNF292	6	87966666	Nonsense_Mutation	SNP	C	TCGA-EJ-7784-01A-11D-2114-08	49090795	87966666	83148401	35	4576											
MARCKS	4082	broad.mit.edu	37	chr6	114181209	114181210	+	Frame_Shift_Ins	INS	-	-	A																															cgcccagcaacgagaccccgINSaaaaaaaaaaagaagcgctt																										TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr6:114181209_114181210insA	ENST00000368635.4	+	2	834_835	c.453_454insA	c.(451-456)ccaaaafs	p.PK151fs		NM_002356.5	NP_002347.5	P29966	MARCS_HUMAN	myristoylated alanine-rich protein kinase C substrate	151					energy reserve metabolic process|regulation of insulin secretion	actin cytoskeleton|plasma membrane	actin filament binding|calmodulin binding	p.K155fs*12(1)		breast(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(87;7.65e-05)|all_epithelial(87;0.000296)|all_hematologic(75;0.0172)|Colorectal(196;0.0317)|all_lung(197;0.198)		Epithelial(106;1.59e-07)|all cancers(137;9.85e-07)|OV - Ovarian serous cystadenocarcinoma(136;0.000322)		ACGAGACCCCGAAAAAAAAAAA	0.614													8	22	---	---	---	---						A	114181210	-	A	114181209	7	5	81	1	0	1	1	0	0	0	0	0	9359	1045	37	0	459	0	MARCKS	6	114181209	Frame_Shift_Ins	INS	-	TCGA-EJ-7784-01A-11D-2114-08	26214543	114181209	56933858	36	4577											
ACTL6B	51412	broad.mit.edu	37	chr7	100246363	100246363	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagccccaccttgctgcagaAcgtagccgtcatgtactgga	10	8	10	13	2	1	1	1	0	0	1	1	2	1	2	4	1	6	4	4	1	4	3			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr7:100246363A>T	ENST00000160382.5	-	6	657	c.551T>A	c.(550-552)gTt>gAt	p.V184D		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	184					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TTGCTGCAGAACGTAGCCGTC	0.627													5	86					0	0	0.248553	0	0	T	100246363	A	T	100246363	3	4	81	1	0	0	0	0	1	0	0	0	199	43	2	5	765	5	ACTL6B	7	100246363	Missense_Mutation	SNP	A	TCGA-EJ-7784-01A-11D-2114-08		100246363	58892300	37	4578											
ZAN	7455	broad.mit.edu	37	chr7	100350487	100350487	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caccatctccacggaaaaacCcaccatccccacggaaaaac	16	3	4	18	2	1	0	0	0	1	0	3	2	2	2	6	2	2	0	6	2	4	0			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr7:100350487C>T	ENST00000542585.1	+	0	2907				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACGGAAAAACCCACCATCCCC	0.502													5	129					0	0	0.217242	0	0	T	100350487	C	T	100350487	1	4	81	0	1	0	0	0	0	0	0	0	17573	623	22	2		2	ZAN	7	100350487	RNA	SNP	C	TCGA-EJ-7784-01A-11D-2114-08	104124	100350487	58788176	38	4579											
FLNC	2318	broad.mit.edu	37	chr7	128475497	128475497	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaagatgatgaggatgcccGcaaacagacgcccaagcagc	14	4	12	11	2	0	5	0	3	0	2	0	6	0	6	2	1	4	2	2	1	3	0			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr7:128475497G>A	ENST00000325888.8	+	2	731	c.470G>A	c.(469-471)cGc>cAc	p.R157H	FLNC_ENST00000346177.6_Missense_Mutation_p.R157H	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	157	Actin-binding.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GAGGATGCCCGCAAACAGACG	0.582													4	162					0	0	0.150653	0	0	A	128475497	G	A	128475497	3	1	81	1	0	0	0	0	1	0	0	0	5968	1087	38	1	476	1	FLNC	7	128475497	Missense_Mutation	SNP	G	TCGA-EJ-7784-01A-11D-2114-08	28125010	128475497	30663166	39	4580											
SSPO	23145	broad.mit.edu	37	chr7	149489766	149489766	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggagctccaacaacccccGcccctccggccgaggtcgcc	6	3	10	22	5	0	0	0	0	0	0	3	2	2	1	9	3	3	1	9	3	2	0			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr7:149489766G>A	ENST00000378016.2	+	0	5822							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AACAACCCCCGCCCCTCCGGC	0.697													29	29					0	0	0.740014	0	0	A	149489766	G	A	149489766	1	1	81	0	1	0	0	0	0	0	0	0	15245	1087	38	1		1	SSPO	7	149489766	RNA	SNP	G	TCGA-EJ-7784-01A-11D-2114-08	21014269	149489766	9648897	40	4581											
CSMD1	64478	broad.mit.edu	37	chr8	2807750	2807753	+	Splice_Site	DEL	TACA	TACA	-																															acagaccttacacatgtactTacataaccatctagtcccca																										TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr8:2807750_2807753delTACA	ENST00000520002.1	-	68	10872_10873	c.10317_splice	c.e68+1	p.Y3439_splice	CSMD1_ENST00000602723.1_Splice_Site_p.Y3262_splice|CSMD1_ENST00000400186.3_Splice_Site_p.Y3262_splice|CSMD1_ENST00000602557.1_Splice_Site_p.Y3439_splice|CSMD1_ENST00000542608.1_Splice_Site_p.Y3261_splice|CSMD1_ENST00000537824.1_Splice_Site_p.Y3438_splice			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3439						integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CACATGTACTTACATAACCATCTA	0.441													11	151	---	---	---	---						-	2807753	TACA	-	2807750	8	5	81	1	0	1	0	1	0	0	1	0	3969	1769	61	0		0	CSMD1	8	2807750	Splice_Site	DEL	TACA	TCGA-EJ-7784-01A-11D-2114-08		2807750	143556272	41	4582											
FBXO16	157574	broad.mit.edu	37	chr8	28304698	28304698	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caatacttaccattgattgtGcttttcttagcctagttctg	8	18	6	9	0	2	1	0	1	2	0	2	1	2	1	2	0	4	2	2	0	5	9			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr8:28304698G>A	ENST00000380254.2	-	7	981	c.833C>T	c.(832-834)gCa>gTa	p.A278V	FBXO16_ENST00000346498.2_Missense_Mutation_p.A266V|FBXO16_ENST00000518734.1_Missense_Mutation_p.A266V	NM_001258211.1|NM_172366.3	NP_001245140.1|NP_758954.1	Q8IX29	FBX16_HUMAN	F-box protein 16	278										large_intestine(2)|ovary(1)	3		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)		CATTGATTGTGCTTTTCTTAG	0.318													10	127					0	0	0.411799	0	0	A	28304698	G	A	28304698	3	1	81	1	0	0	0	0	1	0	0	0	5762	1319	46	2	57	2	FBXO16	8	28304698	Missense_Mutation	SNP	G	TCGA-EJ-7784-01A-11D-2114-08	25496948	28304698	118059324	42	4583											
ACTL7B	10880	broad.mit.edu	37	chr9	111617256	111617256	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcccaggcaggcagctgTgagctccgggaggcccggct	5	4	18	14	3	0	1	0	1	0	0	1	2	1	2	3	6	2	5	3	6	0	0			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr9:111617256T>C	ENST00000374667.3	-	1	1983	c.955A>G	c.(955-957)Aca>Gca	p.T319A		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	319						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CAGGCAGCTGTGAGCTCCGGG	0.652													15	62					0	0	0.479597	0	0	C	111617256	T	C	111617256	3	2	81	1	0	0	0	0	1	0	0	0	201	1696	59	3	296	3	ACTL7B	9	111617256	Missense_Mutation	SNP	T	TCGA-EJ-7784-01A-11D-2114-08		111617256	29596175	43	4584											
LPAR1	1902	broad.mit.edu	37	chr9	113704388	113704388	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcaagatgctttccacttcGgttataaaagaaggcaatgg	13	10	11	7	1	0	2	0	0	0	2	2	2	1	2	1	4	1	4	1	4	6	4			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr9:113704388G>A	ENST00000374431.3	-	4	489	c.106C>T	c.(106-108)Cga>Tga	p.R36*	LPAR1_ENST00000358883.4_Nonsense_Mutation_p.R36*|LPAR1_ENST00000541779.1_Nonsense_Mutation_p.R37*|LPAR1_ENST00000538760.1_Nonsense_Mutation_p.R37*|LPAR1_ENST00000374430.2_Nonsense_Mutation_p.R36*	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	36					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						TTTCCACTTCGGTTATAAAAG	0.418													4	108					0	0	0.217242	0	0	A	113704388	G	A	113704388	4	1	81	1	0	0	0	0	0	1	0	0	8949	1124	39	1	996	1	LPAR1	9	113704388	Nonsense_Mutation	SNP	G	TCGA-EJ-7784-01A-11D-2114-08	2087132	113704388	27509043	44	4585											
PTGS1	5742	broad.mit.edu	37	chr9	125154663	125154663	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccggagtactggaagccgaGcacatttggcggcgaggtgg	8	7	17	9	4	0	0	0	0	0	0	1	4	1	2	2	6	3	2	2	6	2	2			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr9:125154663G>A	ENST00000362012.2	+	11	1645	c.1640G>A	c.(1639-1641)aGc>aAc	p.S547N	PTGS1_ENST00000223423.4_Missense_Mutation_p.S510N|PTGS1_ENST00000540753.1_Missense_Mutation_p.S485N|PTGS1_ENST00000373698.5_Missense_Mutation_p.S438N	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	547					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	TGGAAGCCGAGCACATTTGGC	0.527													9	138					0	0	0.38729	0	0	A	125154663	G	A	125154663	3	1	81	1	0	0	0	0	1	0	0	0	12805	971	34	2	1682	2	PTGS1	9	125154663	Missense_Mutation	SNP	G	TCGA-EJ-7784-01A-11D-2114-08	11450275	125154663	16058768	45	4586											
ZDHHC16	84287	broad.mit.edu	37	chr10	99212187	99212187	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagggcaggaatgatatcGccaccgtctccatctgtaag	11	8	10	12	2	2	1	0	1	2	0	4	2	2	2	3	2	0	2	3	2	3	2	rs151287328		TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr10:99212187G>A	ENST00000393760.1	+	5	803	c.454G>A	c.(454-456)Gcc>Acc	p.A152T	ZDHHC16_ENST00000370846.4_Missense_Mutation_p.A152T|ZDHHC16_ENST00000352634.4_Missense_Mutation_p.A152T|ZDHHC16_ENST00000495735.1_3'UTR|ZDHHC16_ENST00000345745.5_Missense_Mutation_p.A87T|ZDHHC16_ENST00000370842.2_Missense_Mutation_p.A152T|ZDHHC16_ENST00000370854.3_Missense_Mutation_p.A152T|ZDHHC16_ENST00000353979.3_Missense_Mutation_p.A152T	NM_198046.1	NP_932163.1	Q969W1	ZDH16_HUMAN	zinc finger, DHHC-type containing 16	152					apoptosis	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	14		Colorectal(252;0.0846)		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)		GAATGATATCGCCACCGTCTC	0.532													16	87					0	0	0.608945	0	0	A	99212187	G	A	99212187	3	1	81	1	0	0	0	0	1	0	0	0	17664	1087	38	1	464	1	ZDHHC16	10	99212187	Missense_Mutation	SNP	G	TCGA-EJ-7784-01A-11D-2114-08		99212187	36322560	46	4587											
CRY2	1408	broad.mit.edu	37	chr11	45869058	45869058	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcatggcggcgactgtggCgacggcggcagctgtggccc	5	6	18	12	5	1	0	1	0	0	0	1	2	1	0	1	6	1	2	1	6	0	0			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr11:45869058C>G	ENST00000443527.2	+	1	102	c.80C>G	c.(79-81)gCg>gGg	p.A27G	CRY2_ENST00000417225.2_Intron|CRY2_ENST00000473199.1_3'UTR	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome 2 (photolyase-like)	6	DNA photolyase.				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						gcgactgtggcgacggcggca	0.721													4	10					0	0	0.184627	0	0	G	45869058	C	G	45869058	3	3	81	1	0	0	0	0	1	0	0	0	3927	768	27	4	118	4	CRY2	11	45869058	Missense_Mutation	SNP	C	TCGA-EJ-7784-01A-11D-2114-08		45869058	89137458	47	4588											
OR5D16	390144	broad.mit.edu	37	chr11	55607137	55607137	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagatgttaaggatgcaatcCgaaaaataatcaatacaaaa	22	8	6	5	1	1	1	1	0	0	1	2	3	2	2	1	1	2	2	1	1	10	3			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr11:55607137C>T	ENST00000378396.1	+	1	910	c.910C>T	c.(910-912)Cga>Tga	p.R304*		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				GGATGCAATCCGAAAAATAAT	0.333													8	38					0	0	0.335167	0	0	T	55607137	C	T	55607137	4	4	81	1	0	0	0	0	0	1	0	0	11203	644	23	1	912	1	OR5D16	11	55607137	Nonsense_Mutation	SNP	C	TCGA-EJ-7784-01A-11D-2114-08	9738079	55607137	79399379	48	4589											
ATM	472	broad.mit.edu	37	chr11	108164131	108164131	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttagatccttttcctgaccAtgttgtttttaaggatttgc	7	20	7	7	0	0	2	0	1	0	1	2	3	2	3	3	1	1	2	3	1	2	9			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr11:108164131A>T	ENST00000278616.4	+	31	5088	c.4703A>T	c.(4702-4704)cAt>cTt	p.H1568L	ATM_ENST00000452508.2_Missense_Mutation_p.H1568L	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	1568					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TTTCCTGACCATGTTGTTTTT	0.308			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			8	102					0	0	0.307466	0	0	T	108164131	A	T	108164131	3	4	81	1	0	0	0	0	1	0	0	0	1108	217	8	5	4821	5	ATM	11	108164131	Missense_Mutation	SNP	A	TCGA-EJ-7784-01A-11D-2114-08	52556994	108164131	26842385	49	4590											
BUD13	84811	broad.mit.edu	37	chr11	116629027	116629027	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctcatctctctctgagtccTtttctgctttcctcctttgc	2	19	5	15	0	4	1	1	1	3	0	9	1	7	1	3	0	2	2	3	0	0	4			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr11:116629027T>C	ENST00000260210.4	-	7	1480	c.1457A>G	c.(1456-1458)aAg>aGg	p.K486R	BUD13_ENST00000375445.3_Missense_Mutation_p.K352R	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	486										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		CTCTGAGTCCTTTTCTGCTTT	0.443													3	193					0	0	0.115264	0	0	C	116629027	T	C	116629027	3	2	81	1	0	0	0	0	1	0	0	0	1576	1609	56	3	418	3	BUD13	11	116629027	Missense_Mutation	SNP	T	TCGA-EJ-7784-01A-11D-2114-08	8464896	116629027	18377489	50	4591											
MLF2	8079	broad.mit.edu	37	chr12	6858044	6858044	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaggcccctccgcccttcGtcccccagcccctgaggact	4	6	11	20	2	0	1	0	1	0	0	3	3	2	3	8	3	1	0	8	3	0	1			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr12:6858044G>A	ENST00000203630.5	-	8	1308	c.664C>T	c.(664-666)Cga>Tga	p.R222*	MLF2_ENST00000539187.1_Nonsense_Mutation_p.R222*|MLF2_ENST00000435120.1_Nonsense_Mutation_p.R222*|MLF2_ENST00000542154.1_Nonsense_Mutation_p.R222*			Q15773	MLF2_HUMAN	myeloid leukemia factor 2	222					defense response	cytoplasm|nucleus	protein binding			kidney(2)|large_intestine(3)|lung(4)	9						TCCGCCCTTCGTCCCCCAGCC	0.711													6	35					0	0	0.217242	0	0	A	6858044	G	A	6858044	4	1	81	1	0	0	0	0	0	1	0	0	9664	1153	40	1	86	1	MLF2	12	6858044	Nonsense_Mutation	SNP	G	TCGA-EJ-7784-01A-11D-2114-08		6858044	126993851	51	4592											
PRB2	653247	broad.mit.edu	37	chr12	11546771	11546771	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gttgcctccttgtgggggtgGtccttgtggctttcctggag	1	15	16	9	0	0	0	0	0	0	0	3	1	3	1	4	5	1	2	4	5	0	4			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr12:11546771G>C	ENST00000389362.4	-	3	276	c.241C>G	c.(241-243)Cca>Gca	p.P81A	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2									p.P81A(1)|p.P60A(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGTGGGGGTGGTCCTTGTGGC	0.612													6	409					0	0	0.27861	0	0	C	11546771	G	C	11546771	3	2	81	1	0	0	0	0	1	0	0	0	12495	1261	44	4	1013	4	PRB2	12	11546771	Missense_Mutation	SNP	G	TCGA-EJ-7784-01A-11D-2114-08	4688727	11546771	122305124	52	4593											
TRAFD1	10906	broad.mit.edu	37	chr12	112572542	112572542	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctttggtctatttccgtagCaaaaaagaaattcctgtgtt	11	16	7	7	1	2	1	0	0	2	1	4	1	4	1	2	1	1	3	2	1	6	6			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr12:112572542C>A	ENST00000257604.5	+	3	665	c.47_splice	c.e3-1	p.C16_splice	TRAFD1_ENST00000412615.2_Splice_Site_p.C16_splice	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	16					negative regulation of innate immune response	intracellular	protein binding|zinc ion binding			kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						ATTTCCGTAGCAAAAAAGAAA	0.393													4	105					0.00909568	0.00989155	0.150653	1	0	A	112572542	C	A	112572542	5	1	81	1	0	0	0	0	0	0	1	0	16508	724	25	4	54	4	TRAFD1	12	112572542	Splice_Site	SNP	C	TCGA-EJ-7784-01A-11D-2114-08	101025771	112572542	21279353	53	4594											
EP400	57634	broad.mit.edu	37	chr12	132547141	132547141	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcaacaGcagcagcagcaacagacgac	16	0	11	14	1	0	1	0	0	0	1	0	2	0	1	0	0	11	9	0	0	2	0			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr12:132547141G>A	ENST00000333577.4	+	48	8446	c.8337G>A	c.(8335-8337)caG>caA	p.Q2779Q	EP400_ENST00000330386.6_Silent_p.Q2662Q|EP400_ENST00000389561.2_Silent_p.Q2743Q|EP400_ENST00000389562.2_Silent_p.Q2742Q|EP400_ENST00000332482.4_Silent_p.Q2706Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2779	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2742Q(2)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacagcagcagcagc	0.597													3	46					0	0	0.150653	0	0	A	132547141	G	A	132547141	2	1	81	1	0	0	0	0	0	0	0	1	5177	962	34	2		2	EP400	12	132547141	Silent	SNP	G	TCGA-EJ-7784-01A-11D-2114-08	19974599	132547141	1304754	54	4595											
LATS2	26524	broad.mit.edu	37	chr13	21562482	21562483	+	In_Frame_Ins	INS	-	-	GGGGCG																															cgtccaagccctccgcagccINSggggcgggggcgggggcggg																								rs56252009		TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr13:21562482_21562483insGGGGCG	ENST00000382592.4	-	4	1841_1842	c.1436_1437insCGCCCC	c.(1435-1437)cgc>cCGCCCCgc	p.478_479insPP	LATS2_ENST00000542899.1_In_Frame_Ins_p.478_479insPP	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	478					cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.P473_A480delPAPAPAPA(2)|p.P479_A480insGR(1)		breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CCTCCGCAgccggggcgggggc	0.787													6	5	---	---	---	---						GGGGCG	21562483	-	GGGGCG	21562482	7	5	81	1	0	1	1	0	0	0	0	0	8686	639	23	0	1849	0	LATS2	13	21562482	In_Frame_Ins	INS	-	TCGA-EJ-7784-01A-11D-2114-08		21562482	93607396	55	4596											
SUPT16H	11198	broad.mit.edu	37	chr14	21829070	21829070	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatttgggcgaatgtatagaTctttcagtttcggattactc	9	17	9	6	2	2	1	1	0	1	1	4	3	2	2	0	2	1	2	0	2	5	7			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr14:21829070T>A	ENST00000216297.2	-	17	2329	c.1991A>T	c.(1990-1992)gAt>gTt	p.D664V		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	664					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		AATGTATAGATCTTTCAGTTT	0.418													7	55					0	0	0.27861	0	0	A	21829070	T	A	21829070	3	1	81	1	0	0	0	0	1	0	0	0	15452	1435	50	5	1192	5	SUPT16H	14	21829070	Missense_Mutation	SNP	T	TCGA-EJ-7784-01A-11D-2114-08		21829070	85520470	56	4597											
LRP10	26020	broad.mit.edu	37	chr14	23344794	23344794	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggatatacacacctagccTcagtctcccacccccagtcc	9	8	5	19	0	2	0	1	0	1	0	4	1	3	1	6	1	2	0	6	1	3	3			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr14:23344794T>C	ENST00000359591.4	+	5	1328	c.637T>C	c.(637-639)Tca>Cca	p.S213P	LRP10_ENST00000546834.1_Missense_Mutation_p.S213P	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	213	CUB 2.				endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		ACACCTAGCCTCAGTCTCCCA	0.627													3	189					0	0	0.150653	0	0	C	23344794	T	C	23344794	3	2	81	1	0	0	0	0	1	0	0	0	8997	1551	54	3	655	3	LRP10	14	23344794	Missense_Mutation	SNP	T	TCGA-EJ-7784-01A-11D-2114-08	1515724	23344794	84004746	57	4598											
UBR1	197131	broad.mit.edu	37	chr15	43242542	43242542	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggctttaccttcaaccaggaCcactcggcattctctgattc	8	12	7	14	1	2	1	1	1	1	0	5	2	2	2	3	3	2	2	3	3	2	5			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr15:43242542C>G	ENST00000290650.4	-	46	5104	c.5026G>C	c.(5026-5028)Gtc>Ctc	p.V1676L	UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1676					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		TCAACCAGGACCACTCGGCAT	0.403													4	94					0	0	0.217242	0	0	G	43242542	C	G	43242542	3	3	81	1	0	0	0	0	1	0	0	0	16962	507	18	4	231	4	UBR1	15	43242542	Missense_Mutation	SNP	C	TCGA-EJ-7784-01A-11D-2114-08		43242542	59288850	58	4599											
ATP8B4	79895	broad.mit.edu	37	chr15	50212487	50212487	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatagcccagctattcgttCatccctctcttctgtggcag	7	14	7	13	1	3	0	1	0	2	0	6	0	4	0	2	1	2	3	2	1	3	6			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr15:50212487C>A	ENST00000284509.6	-	18	2020	c.1879G>T	c.(1879-1881)Gaa>Taa	p.E627*	ATP8B4_ENST00000559829.1_Nonsense_Mutation_p.E627*	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	627					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		GCTATTCGTTCATCCCTCTCT	0.413													4	176					0.014758	0.0158512	0.184627	1	0	A	50212487	C	A	50212487	4	1	81	1	0	0	0	0	0	1	0	0	1195	835	29	4	1743	4	ATP8B4	15	50212487	Nonsense_Mutation	SNP	C	TCGA-EJ-7784-01A-11D-2114-08	6969945	50212487	52318905	59	4600											
ITGA11	22801	broad.mit.edu	37	chr15	68620499	68620499	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagaggaaggcggccaggCaggtggcatccctgccactg	9	4	16	12	1	0	1	0	0	0	1	1	2	1	2	3	6	2	3	3	6	1	0			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr15:68620499C>A	ENST00000423218.2	-	16	2098	c.2003G>T	c.(2002-2004)tGc>tTc	p.C668F	ITGA11_ENST00000315757.7_Missense_Mutation_p.C668F			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	668					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity	p.C668F(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	GGCGGCCAGGCAGGTGGCATC	0.577													5	68					4.096e-09	4.68884e-09	0.217242	1	0	A	68620499	C	A	68620499	3	1	81	1	0	0	0	0	1	0	0	0	7918	710	25	4	1623	4	ITGA11	15	68620499	Missense_Mutation	SNP	C	TCGA-EJ-7784-01A-11D-2114-08	18408012	68620499	33910893	60	4601											
PDE8A	5151	broad.mit.edu	37	chr15	85525510	85525510	+	Frame_Shift_Del	DEL	G	G	-																															ctcccgcagggccagaagacGgccgccttgccccggacccg																										TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr15:85525510delG	ENST00000310298.4	+	2	369	c.117delG	c.(115-117)acfs	p.T39fs	PDE8A_ENST00000394553.1_Frame_Shift_Del_p.T39fs|PDE8A_ENST00000557957.1_Intron|PDE8A_ENST00000339708.5_Frame_Shift_Del_p.T39fs			O60658	PDE8A_HUMAN	phosphodiesterase 8A	39					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			GCCAGAAGACGGCCGCCTTGC	0.766													2	4	---	---	---	---						-	85525510	G	-	85525510	7	5	81	1	0	1	0	1	0	0	0	0	11700	1103	39	0	119	0	PDE8A	15	85525510	Frame_Shift_Del	DEL	G	TCGA-EJ-7784-01A-11D-2114-08	16905011	85525510	17005882	61	4602											
PKD1	5310	broad.mit.edu	37	chr16	2165391	2165391	+	Frame_Shift_Del	DEL	G	G	-																															ccacacaccgagtactgcgcGgggggccccgcgggaacgga																										TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr16:2165391delG	ENST00000262304.4	-	10	2293	c.2085delC	c.(2083-2085)ccfs	p.P695fs	PKD1_ENST00000423118.1_Frame_Shift_Del_p.P695fs	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	695					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AGTACTGCGCGGGGGGCCCCG	0.677													2	4	---	---	---	---						-	2165391	G	-	2165391	7	5	81	1	0	1	0	1	0	0	0	0	12011	1103	39	0	10974	0	PKD1	16	2165391	Frame_Shift_Del	DEL	G	TCGA-EJ-7784-01A-11D-2114-08		2165391	88189362	62	4603											
MEFV	4210	broad.mit.edu	37	chr16	3306386	3306386	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggacctgcagggtgagctGcacggcgtactcttccccat	7	8	12	14	2	1	1	0	1	1	0	2	2	2	2	3	3	4	4	3	3	1	2			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr16:3306386G>A	ENST00000219596.1	-	1	241	c.202C>T	c.(202-204)Cag>Tag	p.Q68*	MEFV_ENST00000536379.1_Nonsense_Mutation_p.Q68*|MEFV_ENST00000339854.4_Nonsense_Mutation_p.Q68*|MEFV_ENST00000541159.1_Nonsense_Mutation_p.Q68*	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	68	DAPIN.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	AGGGTGAGCTGCACGGCGTAC	0.657													4	123					0	0	0.217242	0	0	A	3306386	G	A	3306386	4	1	81	1	0	0	0	0	0	1	0	0	9509	1328	46	2	2183	2	MEFV	16	3306386	Nonsense_Mutation	SNP	G	TCGA-EJ-7784-01A-11D-2114-08	1140995	3306386	87048367	63	4604											
ZNF597	146434	broad.mit.edu	37	chr16	3487540	3487540	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggcttgccttcctctccTgttgataaaaacaaaagaaa	14	11	6	10	0	2	2	1	1	1	1	4	2	3	2	3	1	2	2	3	1	6	4			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr16:3487540T>G	ENST00000301744.4	-	4	396		c.e4-2		LA16c-306E5.2_ENST00000575785.1_RNA	NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN	zinc finger protein 597						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						CTTCCTCTCCTGTTGATAAAA	0.418													13	31					0	0	0.457914	0	0	G	3487540	T	G	3487540	5	3	81	1	0	0	0	0	0	0	1	0	18084	1594	55	5	1119	5	ZNF597	16	3487540	Splice_Site	SNP	T	TCGA-EJ-7784-01A-11D-2114-08	181154	3487540	86867213	64	4605											
TSNAXIP1	55815	broad.mit.edu	37	chr16	67859051	67859051	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgccaggtgaccaaactGaggaagaacttggctgagga	12	8	13	8	0	1	4	0	3	1	1	1	6	1	6	2	4	3	1	2	4	3	2			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr16:67859051G>T	ENST00000388833.3	+	7	905	c.528G>T	c.(526-528)ctG>ctT	p.L176L	TSNAXIP1_ENST00000562321.1_3'UTR|TSNAXIP1_ENST00000561639.1_Silent_p.L230L|TSNAXIP1_ENST00000415766.3_Silent_p.L161L	NM_018430.2	NP_060900.2	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein 1	176					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		TGACCAAACTGAGGAAGAACT	0.607													5	72					0.00116845	0.00128677	0.217242	1	0	T	67859051	G	T	67859051	2	4	81	1	0	0	0	0	0	0	0	1	16693	1277	45	4		4	TSNAXIP1	16	67859051	Silent	SNP	G	TCGA-EJ-7784-01A-11D-2114-08	64371511	67859051	22495702	65	4606											
TUSC5	286753	broad.mit.edu	37	chr17	1183623	1183623	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attacctcatcctggccgtcGtcgcctgcttctgccccgtc	3	12	8	18	4	2	0	1	0	1	0	6	0	3	0	6	1	3	1	6	1	1	2			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr17:1183623G>A	ENST00000333813.3	+	1	667	c.328G>A	c.(328-330)Gtc>Atc	p.V110I		NM_172367.2	NP_758955.2	Q8IXB3	TUSC5_HUMAN	tumor suppressor candidate 5	110					response to biotic stimulus	integral to membrane				endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCTGGCCGTCGTCGCCTGCTT	0.632													10	127					0	0	0.335167	0	0	A	1183623	G	A	1183623	3	1	81	1	0	0	0	0	1	0	0	0	16841	1145	40	1	330	1	TUSC5	17	1183623	Missense_Mutation	SNP	G	TCGA-EJ-7784-01A-11D-2114-08		1183623	80011587	66	4607											
MYH10	4628	broad.mit.edu	37	chr17	8397110	8397110	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cctggcctcctcctcctcctCctgctgctcctgaagactgt	3	12	7	19	0	0	2	0	1	0	1	6	2	6	2	8	1	2	2	8	1	1	0			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	53036395-5404-42c1-8e8b-8991d627f33f	g.chr17:8397110C>G	ENST00000360416.3	-	32	4288	c.4150G>C	c.(4150-4152)Gag>Cag	p.E1384Q	MYH10_ENST00000269243.4_Missense_Mutation_p.E1353Q|MYH10_ENST00000396239.1_Missense_Mutation_p.E1374Q|MYH10_ENST00000379980.4_Missense_Mutation_p.E1369Q	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1353					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TCCTCCTCCTCCTGCTGCTCC	0.587													3	64					0	0	0.150653	0	0	G	8397110	C	G	8397110	3	3	81	1	0	0	0	0	1	0	0	0	10078	864	30	4	1921	4	MYH10	17	8397110	Missense_Mutation	SNP	C	TCGA-EJ-7784-01A-11D-2114-08	7213487	8397110	72798100	67	4608											
DNAH9	1770	broad.mit.edu	37	chr17	11535997	11535997	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcaagcttttgatgatgcaCctggcttggagcatgccttt	7	15	10	9	0	1	2	1	2	0	0	1	3	1	3	2	2	4	4	2	2	1	5			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr17:11535997C>A	ENST00000262442.3	+	8	1680	c.1612C>A	c.(1612-1614)Cct>Act	p.P538T	DNAH9_ENST00000454412.2_Missense_Mutation_p.P538T	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	538	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGATGATGCACCTGGCTTGGA	0.458													47	78					1.56989e-16	1.84569e-16	0.870114	1	0	A	11535997	C	A	11535997	3	1	81	1	0	0	0	0	1	0	0	0	4635	507	18	4	1642	4	DNAH9	17	11535997	Missense_Mutation	SNP	C	TCGA-EJ-7784-01A-11D-2114-08	3138887	11535997	69659213	68	4609											
CDK12	51755	broad.mit.edu	37	chr17	37687433	37687433	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctatggggagctggggccagGaaccactggggccagcagct	8	5	17	11	0	0	0	0	0	0	0	0	2	0	2	3	7	4	3	3	7	2	1			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr17:37687433G>A	ENST00000447079.4	+	14	4370	c.4337G>A	c.(4336-4338)gGa>gAa	p.G1446E	CDK12_ENST00000430627.2_Missense_Mutation_p.G1437E	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1446					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						CTGGGGCCAGGAACCACTGGG	0.577			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)			35	70					0	0	0.827153	0	0	A	37687433	G	A	37687433	3	1	81	1	0	0	0	0	1	0	0	0	3150	1174	41	2	4391	2	CDK12	17	37687433	Missense_Mutation	SNP	G	TCGA-EJ-7784-01A-11D-2114-08	26151436	37687433	43507777	69	4610											
DUS3L	56931	broad.mit.edu	37	chr19	5788166	5788166	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgaagcgcttgcagatccGtcggaagggcaggttcccac	8	6	13	14	4	0	1	0	0	0	1	3	3	2	2	3	3	2	4	3	3	2	2			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr19:5788166G>A	ENST00000309061.7	-	5	1060	c.964C>T	c.(964-966)Cgg>Tgg	p.R322W	DUS3L_ENST00000320699.8_Missense_Mutation_p.R80W	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	322					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						TTGCAGATCCGTCGGAAGGGC	0.612													7	51					0	0	0.307466	0	0	A	5788166	G	A	5788166	3	1	81	1	0	0	0	0	1	0	0	0	4833	1144	40	1	1024	1	DUS3L	19	5788166	Missense_Mutation	SNP	G	TCGA-EJ-7784-01A-11D-2114-08		5788166	53340817	70	4611											
MED26	9441	broad.mit.edu	37	chr19	16688032	16688032	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccaggcggctgccctctggGcctgcatgcccactgccatc	4	8	11	18	1	1	0	0	0	1	0	3	0	2	0	5	3	4	2	5	3	0	0			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr19:16688032G>T	ENST00000263390.3	-	3	871	c.609C>A	c.(607-609)ggC>ggA	p.G203G	CTD-3222D19.2_ENST00000409035.1_Silent_p.G211G	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN	mediator complex subunit 26	203					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						TGCCCTCTGGGCCTGCATGCC	0.672													10	143					6.40141e-05	7.14004e-05	0.38729	1	0	T	16688032	G	T	16688032	2	4	81	1	0	0	0	0	0	0	0	1	9494	1190	42	4		4	MED26	19	16688032	Silent	SNP	G	TCGA-EJ-7784-01A-11D-2114-08	10899866	16688032	42440951	71	4612											
TSKS	60385	broad.mit.edu	37	chr19	50245231	50245231	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactagtgaggtcagtgctcGgtccagcagctgctgcaggg	7	8	15	11	1	1	1	1	1	0	0	3	1	2	1	1	3	5	5	1	3	1	1			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr19:50245231G>A	ENST00000246801.3	-	9	1490	c.1408C>T	c.(1408-1410)Cga>Tga	p.R470*	TSKS_ENST00000358830.3_Nonsense_Mutation_p.R270*	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	470							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		GTCAGTGCTCGGTCCAGCAGC	0.612													3	65					0	0	0.150653	0	0	A	50245231	G	A	50245231	4	1	81	1	0	0	0	0	0	1	0	0	16687	1124	39	1	382	1	TSKS	19	50245231	Nonsense_Mutation	SNP	G	TCGA-EJ-7784-01A-11D-2114-08	33557199	50245231	8883752	72	4613											
CHRNA4	1137	broad.mit.edu	37	chr20	61981681	61981681	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aattgtccttgaccacggacGgccgcttcatgaggagcagg	9	8	13	11	3	1	2	1	2	0	0	2	4	2	4	3	4	1	2	3	4	1	3			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr20:61981681G>A	ENST00000370263.4	-	5	1303	c.1082C>T	c.(1081-1083)cCg>cTg	p.P361L	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	361					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.P361L(3)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	GACCACGGACGGCCGCTTCAT	0.662													3	47					0	0	0.115264	0	0	A	61981681	G	A	61981681	3	1	81	1	0	0	0	0	1	0	0	0	3407	1116	39	1	809	1	CHRNA4	20	61981681	Missense_Mutation	SNP	G	TCGA-EJ-7784-01A-11D-2114-08		61981681	1043839	73	4614											
GSTT1	2952	broad.mit.edu	37	chr22	24381723	24381723	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgtcaaggtgaagtccccGtccttcaaggctggcacctt	7	10	10	14	2	2	1	2	1	0	0	5	1	5	1	5	3	0	2	5	3	3	2			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chr22:24381723G>A	ENST00000248935.5	-	2	229	c.177C>T	c.(175-177)gaC>gaT	p.D59D	GSTT1_ENST00000439996.2_Intron	NM_000853.2	NP_000844.2	P30711	GSTT1_HUMAN	glutathione S-transferase theta 1	59	GST N-terminal.				glutathione metabolic process	cytosol|soluble fraction	glutathione peroxidase activity|glutathione transferase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)	6					Glutathione(DB00143)	TGAAGTCCCCGTCCTTCAAGG	0.562									Myelodysplasia and Acute Myeloid Leukemia (AML), Familial				4	114					0	0	0.150653	0	0	A	24381723	G	A	24381723	2	1	81	1	0	0	0	0	0	0	0	1	6886	1136	40	1		1	GSTT1	22	24381723	Silent	SNP	G	TCGA-EJ-7784-01A-11D-2114-08		24381723	26922843	74	4615											
FAM47A	158724	broad.mit.edu	37	chrX	34150304	34150304	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgcctgtgcttgcacttcGcgaagcacttggaaggccgt	6	9	14	12	4	0	0	0	0	0	0	1	2	0	1	2	3	3	3	2	3	2	3			TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chrX:34150304G>A	ENST00000346193.3	-	1	143	c.92C>T	c.(91-93)gCg>gTg	p.A31V		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	31										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CTTGCACTTCGCGAAGCACTT	0.612													19	31					0	0	0.575678	0	0	A	34150304	G	A	34150304	3	1	81	1	0	0	0	0	1	0	0	0	5605	1087	38	1	2287	1	FAM47A	23	34150304	Missense_Mutation	SNP	G	TCGA-EJ-7784-01A-11D-2114-08		34150304	121120256	75	4616											
SHROOM4	57477	broad.mit.edu	37	chrX	50350702	50350704	+	In_Frame_Del	DEL	TCT	TCT	-																															cctctgcctcctcctcctccTcttcctcttcctcttcttct																										TCGA-EJ-7784-01A-11D-2114-08	TCGA-EJ-7784-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5987d460-eb7f-49e5-b817-f5032359575a	b330d9da-504a-4dfe-b696-ceebe0369ede	g.chrX:50350702_50350704delTCT	ENST00000376020.2	-	6	3463_3465	c.3438_3440delAGA	c.(3436-3441)gag>ga	p.EE1150del	SHROOM4_ENST00000289292.7_In_Frame_Del_p.EE1150del|SHROOM4_ENST00000460112.3_In_Frame_Del_p.EE1034del	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	1150	Glu-rich.				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					ctcctcctcctcttcctcttcct	0.557													2	4	---	---	---	---						-	50350704	TCT	-	50350702	7	5	81	1	0	1	0	1	0	0	0	0	14351	1551	54	0	1057	0	SHROOM4	23	50350702	In_Frame_Del	DEL	TCT	TCGA-EJ-7784-01A-11D-2114-08	16200398	50350702	104919858	76	4617											
EIF4G3	8672	broad.mit.edu	37	chr1	21205816	21205816	+	Splice_Site	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actccttcctctcttcttacCgttactagacatcgacacat	9	14	3	15	2	2	1	0	0	2	1	6	2	4	1	3	0	2	1	3	0	3	5			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr1:21205816C>G	ENST00000602326.1	-	18	3055	c.2472_splice	c.e18+1	p.T824_splice	EIF4G3_ENST00000374937.3_Splice_Site_p.T824_splice|EIF4G3_ENST00000536266.1_Splice_Site_p.T422_splice|EIF4G3_ENST00000264211.8_Splice_Site_p.T818_splice|EIF4G3_ENST00000537738.1_Splice_Site_p.T308_splice|EIF4G3_ENST00000400422.1_Splice_Site_p.T818_splice|EIF4G3_ENST00000374935.3_Splice_Site_p.T538_splice	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	818	MIF4G.|eIF3/EIF4A-binding (By similarity).				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	p.T824T(1)|p.T818T(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		CTCTTCTTACCGTTACTAGAC	0.443													15	70					0	0	0.479597	0	0	G	21205816	C	G	21205816	5	3	82	1	0	0	0	0	0	0	1	0	5066	666	23	4	2375	4	EIF4G3	1	21205816	Splice_Site	SNP	C	TCGA-EJ-7785-01A-11D-2114-08		21205816	228044805	1	4618											
NCDN	23154	broad.mit.edu	37	chr1	36028872	36028872	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagatcctgatcaaggaaggGgccccctcgcttctgtgcaa	9	8	12	12	1	2	2	1	1	1	1	4	4	3	3	3	3	1	2	3	3	3	1			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr1:36028872G>T	ENST00000373243.2	+	5	1838	c.1455G>T	c.(1453-1455)ggG>ggT	p.G485G	NCDN_ENST00000356090.4_Silent_p.G485G|NCDN_ENST00000373253.3_Silent_p.G468G	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	485					neuron projection development	cytosol|dendrite|neuronal cell body				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TCAAGGAAGGGGCCCCCTCGC	0.627													13	48					4.93089e-13	5.678e-13	0.457914	1	0	T	36028872	G	T	36028872	2	4	82	1	0	0	0	0	0	0	0	1	10261	1219	43	4		4	NCDN	1	36028872	Silent	SNP	G	TCGA-EJ-7785-01A-11D-2114-08	14823056	36028872	213221749	2	4619											
ZNF142	7701	broad.mit.edu	37	chr2	219507559	219507559	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcaagagctgcaggggatgCggccaatgcctgtgtgtcgg	7	7	18	9	2	0	1	0	0	0	1	1	2	0	2	2	5	4	3	2	5	2	0			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr2:219507559C>T	ENST00000411696.2	-	7	4459	c.3680G>A	c.(3679-3681)cGc>cAc	p.R1227H	ZNF142_ENST00000449707.1_Missense_Mutation_p.R1227H			P52746	ZN142_HUMAN	zinc finger protein 142	1227					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GCAGGGGATGCGGCCAATGCC	0.577													23	140					0	0	0.654019	0	0	T	219507559	C	T	219507559	3	4	82	1	0	0	0	0	1	0	0	0	17789	768	27	1	1395	1	ZNF142	2	219507559	Missense_Mutation	SNP	C	TCGA-EJ-7785-01A-11D-2114-08		219507559	23691814	3	4620											
MYEOV2	150678	broad.mit.edu	37	chr2	241066272	241066272	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctctgcatctggtaaacAttagcgcctccgccccctgc	6	11	8	16	2	2	0	0	0	2	0	4	0	3	0	4	1	4	3	4	1	3	3	rs142104600		TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr2:241066272A>G	ENST00000307266.3	-	5	466	c.467T>C	c.(466-468)aTg>aCg	p.M156T		NM_138336.1	NP_612209.1	Q8WXC6	MYOV2_HUMAN	myeloma overexpressed 2	0										breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		TCTGGTAAACATTAGCGCCTC	0.537													4	117					0	0	0.150653	0	0	G	241066272	A	G	241066272	3	3	82	1	0	0	0	0	1	0	0	0	10074	217	8	3	295	3	MYEOV2	2	241066272	Missense_Mutation	SNP	A	TCGA-EJ-7785-01A-11D-2114-08	21558713	241066272	2133101	4	4621											
CCDC66	285331	broad.mit.edu	37	chr3	56627995	56627995	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccgttctatgactgctcTcttggacccagctcagattg	6	14	8	13	1	4	2	1	1	3	1	6	3	4	3	2	1	2	3	2	1	1	4			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr3:56627995T>A	ENST00000394672.3	+	10	1413	c.1343T>A	c.(1342-1344)cTc>cAc	p.L448H	CCDC66_ENST00000326595.7_Missense_Mutation_p.L414H|CCDC66_ENST00000436465.2_Missense_Mutation_p.L448H	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	448										breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		ATGACTGCTCTCTTGGACCCA	0.373													18	76					0	0	0.575678	0	0	A	56627995	T	A	56627995	3	1	82	1	0	0	0	0	1	0	0	0	2858	1551	54	5	1381	5	CCDC66	3	56627995	Missense_Mutation	SNP	T	TCGA-EJ-7785-01A-11D-2114-08		56627995	141394435	5	4622											
KDR	3791	broad.mit.edu	37	chr4	55946268	55946268	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agtgatatccggactggtagCcgcttgtctggtttgagcct	6	13	13	9	2	1	2	0	2	1	0	2	3	2	3	3	3	2	3	3	3	2	4			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr4:55946268C>T	ENST00000263923.4	-	30	4206	c.3911G>A	c.(3910-3912)gGc>gAc	p.G1304D	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1304					angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	GGACTGGTAGCCGCTTGTCTG	0.507			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)			5	111					0	0	0.248553	0	0	T	55946268	C	T	55946268	3	4	82	1	0	0	0	0	1	0	0	0	8182	739	26	2	163	2	KDR	4	55946268	Missense_Mutation	SNP	C	TCGA-EJ-7785-01A-11D-2114-08		55946268	135208008	6	4623											
FAM8A1	51439	broad.mit.edu	37	chr6	17605181	17605181	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatataatagaagaaatagAtgaagacacatcaatggaag	21	9	8	3	0	1	5	1	1	0	4	1	6	1	6	0	1	0	0	0	1	10	5			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr6:17605181A>G	ENST00000259963.3	+	3	933	c.878A>G	c.(877-879)gAt>gGt	p.D293G		NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	293	RDD.					integral to membrane				endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			GAAGAAATAGATGAAGACACA	0.323													8	33					0	0	0.27861	0	0	G	17605181	A	G	17605181	3	3	82	1	0	0	0	0	1	0	0	0	5680	333	12	3	888	3	FAM8A1	6	17605181	Missense_Mutation	SNP	A	TCGA-EJ-7785-01A-11D-2114-08		17605181	153509886	7	4624											
LAMA2	3908	broad.mit.edu	37	chr6	129824263	129824263	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attgagttggaagtaagaacCgaagctgaatccggcttgct	12	10	12	7	2	0	3	0	2	0	1	1	5	1	4	2	2	3	5	2	2	5	4	rs142445491		TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr6:129824263C>T	ENST00000421865.2	+	60	8434	c.8385C>T	c.(8383-8385)acC>acT	p.T2795T		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2795	Laminin G-like 4.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AAGTAAGAACCGAAGCTGAAT	0.403													13	80					0	0	0.500413	0	0	T	129824263	C	T	129824263	2	4	82	1	0	0	0	0	0	0	0	1	8645	639	23	1		1	LAMA2	6	129824263	Silent	SNP	C	TCGA-EJ-7785-01A-11D-2114-08	112219082	129824263	41290804	8	4625											
MUC17	140453	broad.mit.edu	37	chr7	100681501	100681501	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaactgctgaaggtaccagCataccaacttcaactcttag	14	9	6	12	0	2	1	1	1	1	0	2	1	2	1	2	1	7	3	2	1	7	4			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr7:100681501C>T	ENST00000306151.4	+	3	6868	c.6804C>T	c.(6802-6804)agC>agT	p.S2268S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2268	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AAGGTACCAGCATACCAACTT	0.488													42	270					0	0	0.840704	0	0	T	100681501	C	T	100681501	2	4	82	1	0	0	0	0	0	0	0	1	10022	709	25	2		2	MUC17	7	100681501	Silent	SNP	C	TCGA-EJ-7785-01A-11D-2114-08		100681501	58457162	9	4626											
LAMB1	3912	broad.mit.edu	37	chr7	107580636	107580636	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagctcggcaatgatcacatCccagagagcaaagcactggt	13	6	10	12	1	1	2	1	1	0	1	3	3	2	2	1	2	3	4	1	2	2	0			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr7:107580636C>T	ENST00000393561.1	-	23	3815	c.3631G>A	c.(3631-3633)Gat>Aat	p.D1211N	LAMB1_ENST00000222399.6_Missense_Mutation_p.D1187N			P07942	LAMB1_HUMAN	laminin, beta 1	1187	Domain II.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATGATCACATCCCAGAGAGCA	0.572													11	94					0	0	0.361761	0	0	T	107580636	C	T	107580636	3	4	82	1	0	0	0	0	1	0	0	0	8649	855	30	2	1841	2	LAMB1	7	107580636	Missense_Mutation	SNP	C	TCGA-EJ-7785-01A-11D-2114-08	6899135	107580636	51558027	10	4627											
PDE6C	5146	broad.mit.edu	37	chr10	95405746	95405746	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tccattagcaagacttcatgGttcttctattttggagaggc	9	15	9	8	0	3	2	1	0	2	2	4	3	4	2	1	3	1	2	1	3	3	7			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr10:95405746G>C	ENST00000371447.3	+	15	2015	c.1877G>C	c.(1876-1878)gGt>gCt	p.G626A		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	626					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				AGACTTCATGGTTCTTCTATT	0.403													8	37					0	0	0.335167	0	0	C	95405746	G	C	95405746	3	2	82	1	0	0	0	0	1	0	0	0	11694	1261	44	4	1935	4	PDE6C	10	95405746	Missense_Mutation	SNP	G	TCGA-EJ-7785-01A-11D-2114-08		95405746	40129001	11	4628											
CORO1B	57175	broad.mit.edu	37	chr11	67205932	67205932	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccttgaccagcgccctcaggGcccgcagctcctgcatcacc	6	6	9	20	2	2	1	2	1	0	0	3	1	3	1	6	1	3	3	6	1	0	1			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr11:67205932G>T	ENST00000393893.1	-	12	1488	c.1385C>A	c.(1384-1386)gCc>gAc	p.A462D	CORO1B_ENST00000341356.5_Missense_Mutation_p.A462D|CORO1B_ENST00000539724.1_5'UTR	NM_001018070.2	NP_001018080.1	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	462					actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CGCCCTCAGGGCCCGCAGCTC	0.682													7	59					2.7689e-08	3.09465e-08	0.248553	1	0	T	67205932	G	T	67205932	3	4	82	1	0	0	0	0	1	0	0	0	3777	1203	42	4	88	4	CORO1B	11	67205932	Missense_Mutation	SNP	G	TCGA-EJ-7785-01A-11D-2114-08		67205932	67800584	12	4629											
ZIC5	85416	broad.mit.edu	37	chr13	100617974	100617974	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctcgaatcttgcagtagtagGgcttgtcactggtgtggaca	8	12	13	8	1	2	0	1	0	1	0	3	2	2	1	0	3	1	4	0	3	3	4			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr13:100617974G>C	ENST00000267294.4	-	2	1882	c.1649C>G	c.(1648-1650)cCc>cGc	p.P550R		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	550					cell differentiation	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GCAGTAGTAGGGCTTGTCACT	0.493													19	81					0	0	0.539581	0	0	C	100617974	G	C	100617974	3	2	82	1	0	0	0	0	1	0	0	0	17740	1232	43	4	346	4	ZIC5	13	100617974	Missense_Mutation	SNP	G	TCGA-EJ-7785-01A-11D-2114-08		100617974	14551904	13	4630											
ADCY4	196883	broad.mit.edu	37	chr14	24792632	24792632	+	Frame_Shift_Del	DEL	G	G	-																															acacattgggagcttggaaaGggcagtctgatgatgttggg																										TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr14:24792632delG	ENST00000310677.4	-	18	2188	c.2075delC	c.(2074-2076)ctfs	p.P692fs	ADCY4_ENST00000396747.3_Frame_Shift_Del_p.P385fs|ADCY4_ENST00000554068.2_Frame_Shift_Del_p.P692fs|ADCY4_ENST00000418030.2_Frame_Shift_Del_p.P692fs	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	692					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		AGCTTGGAAAGGGCAGTCTGA	0.542													2	4	---	---	---	---						-	24792632	G	-	24792632	7	5	82	1	0	1	0	1	0	0	0	0	295	1000	35	0	1194	0	ADCY4	14	24792632	Frame_Shift_Del	DEL	G	TCGA-EJ-7785-01A-11D-2114-08		24792632	82556908	14	4631											
SPTBN5	51332	broad.mit.edu	37	chr15	42162706	42162706	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagggtggtctcggtgtctcGgagcgcgtggcctcgggcct	2	9	19	11	5	2	0	0	0	2	0	5	2	2	1	2	6	1	0	2	6	0	0			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr15:42162706G>A	ENST00000320955.6	-	30	5727	c.5500C>T	c.(5500-5502)Cga>Tga	p.R1834*		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1834					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)		TCGGTGTCTCGGAGCGCGTGG	0.662													7	43					0	0	0.335167	0	0	A	42162706	G	A	42162706	4	1	82	1	0	0	0	0	0	1	0	0	15178	1124	39	1	5680	1	SPTBN5	15	42162706	Nonsense_Mutation	SNP	G	TCGA-EJ-7785-01A-11D-2114-08		42162706	60368686	15	4632											
CYP19A1	0	broad.mit.edu	37	chr15	51507372	51507372	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agacatggtgtcaggagctgCgatcagcatttccaatatgc	11	10	11	9	1	2	1	2	0	0	1	3	3	3	2	1	2	4	2	1	2	2	2			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr15:51507372C>T	ENST00000396402.1	-	8	1069	c.916G>A	c.(916-918)Gca>Aca	p.A306T	CYP19A1_ENST00000260433.2_Missense_Mutation_p.A306T|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000396404.4_Missense_Mutation_p.A306T|CYP19A1_ENST00000559878.1_Missense_Mutation_p.A306T	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	306					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	TCAGGAGCTGCGATCAGCATT	0.403													17	40					0	0	0.557998	0	0	T	51507372	C	T	51507372	3	4	82	1	0	0	0	0	1	0	0	0	4171	768	27	1	607	1	CYP19A1	15	51507372	Missense_Mutation	SNP	C	TCGA-EJ-7785-01A-11D-2114-08	9344666	51507372	51024020	16	4633											
TMEM132E	124842	broad.mit.edu	37	chr17	32957047	32957047	+	Frame_Shift_Del	DEL	G	G	-																															gacacagagatcatcaacacGgccattctgactggccggac																										TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr17:32957047delG	ENST00000321639.5	+	6	1417	c.1089delG	c.(1087-1089)acfs	p.T363fs		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	363						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		TCATCAACACGGCCATTCTGA	0.602													9	46	---	---	---	---						-	32957047	G	-	32957047	7	5	82	1	0	1	0	1	0	0	0	0	16108	1103	39	0	1111	0	TMEM132E	17	32957047	Frame_Shift_Del	DEL	G	TCGA-EJ-7785-01A-11D-2114-08		32957047	48238163	17	4634											
ANKFN1	162282	broad.mit.edu	37	chr17	54558083	54558083	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgaatctatggaaagtgtGgatcatacttctgactgccc	10	13	9	9	0	4	2	1	2	3	0	4	4	4	4	1	2	2	0	1	2	4	3			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr17:54558083G>A	ENST00000566473.2	+	16	2004	c.2004G>A	c.(2002-2004)gtG>gtA	p.V668V	ANKFN1_ENST00000318698.2_Silent_p.V668V			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	668										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						TGGAAAGTGTGGATCATACTT	0.413													13	116					0	0	0.435327	0	0	A	54558083	G	A	54558083	2	1	82	1	0	0	0	0	0	0	0	1	621	1335	47	2		2	ANKFN1	17	54558083	Silent	SNP	G	TCGA-EJ-7785-01A-11D-2114-08	21601036	54558083	26637127	18	4635											
CLTC	1213	broad.mit.edu	37	chr17	57733350	57733350	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgttactgcacctcatgaaGccacagctggaataattgga	12	11	9	9	0	1	1	1	1	0	0	1	3	1	3	2	2	4	3	2	2	4	4			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr17:57733350G>A	ENST00000269122.3	+	6	1205	c.931G>A	c.(931-933)Gcc>Acc	p.A311T	CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Missense_Mutation_p.A311T	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	311	Globular terminal domain.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity	p.A311S(1)	CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					ACCTCATGAAGCCACAGCTGG	0.378			T	"ALK, TFE3"	"ALCL, renal "								15	51					0	0	0.479597	0	0	A	57733350	G	A	57733350	3	1	82	1	0	0	0	0	1	0	0	0	3589	971	34	2	953	2	CLTC	17	57733350	Missense_Mutation	SNP	G	TCGA-EJ-7785-01A-11D-2114-08	3175267	57733350	23461860	19	4636											
GEMIN7	0	broad.mit.edu	37	chr19	45593388	45593388	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacaatgcaaactccagtgAacattcccgtgcctgtgctc	11	9	8	13	1	0	2	0	1	0	1	3	2	2	2	3	0	5	2	3	0	3	1			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr19:45593388A>G	ENST00000270257.4	+	3	263	c.16A>G	c.(16-18)Aac>Gac	p.N6D	GEMIN7_ENST00000591607.1_Missense_Mutation_p.N6D|CTB-179K24.3_ENST00000586556.1_RNA|GEMIN7_ENST00000391951.2_Missense_Mutation_p.N6D|CTB-179K24.4_ENST00000586744.1_RNA|GEMIN7_ENST00000591747.1_Missense_Mutation_p.N6D	NM_001007269.1|NM_001007270.1|NM_024707.2	NP_001007270.1|NP_001007271.1|NP_078983.1	Q9H840	GEMI7_HUMAN	gem (nuclear organelle) associated protein 7	6					ncRNA metabolic process|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding			endometrium(1)|kidney(1)|lung(4)|ovary(1)	7		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0131)		AACTCCAGTGAACATTCCCGT	0.577													35	134					0	0	0.827153	0	0	G	45593388	A	G	45593388	3	3	82	1	0	0	0	0	1	0	0	0	6375	246	9	3	18	3	GEMIN7	19	45593388	Missense_Mutation	SNP	A	TCGA-EJ-7785-01A-11D-2114-08		45593388	13535595	20	4637											
NECAB3	63941	broad.mit.edu	37	chr20	32245753	32245753	+	Frame_Shift_Del	DEL	A	A	-																															gggtccaccgcatacctgggAagaacacagtggtgagggtg																										TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr20:32245753delA	ENST00000246190.6	-	11	1212	c.1157delT	c.(1156-1158)tcfs	p.F386fs	NECAB3_ENST00000375238.4_Frame_Shift_Del_p.F352fs|NECAB3_ENST00000606525.1_5'UTR	NM_031232.3	NP_112509.3	Q96P71	NECA3_HUMAN	N-terminal EF-hand calcium binding protein 3	386					antibiotic biosynthetic process|protein metabolic process|protein secretion|regulation of amyloid precursor protein biosynthetic process	endoplasmic reticulum membrane|Golgi cis cisterna|nucleus	calcium ion binding|oxidoreductase activity|protein binding			large_intestine(3)|lung(5)|skin(2)	10						CATACCTGGGAAGAACACAGT	0.682													2	4	---	---	---	---						-	32245753	A	-	32245753	7	5	82	1	0	1	0	1	0	0	0	0	10353	246	9	0	41	0	NECAB3	20	32245753	Frame_Shift_Del	DEL	A	TCGA-EJ-7785-01A-11D-2114-08		32245753	30779767	21	4638											
EPB41L1	2036	broad.mit.edu	37	chr20	34766592	34766592	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagatcaagaagcagatccGgagtgagtggcttgttgtgt	10	10	16	5	1	1	4	1	1	0	3	2	6	2	5	1	3	1	3	1	3	2	2			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr20:34766592G>A	ENST00000338074.2	+	5	649	c.488G>A	c.(487-489)cGg>cAg	p.R163Q	EPB41L1_ENST00000373946.3_Missense_Mutation_p.R132Q|EPB41L1_ENST00000373950.2_Missense_Mutation_p.R66Q|EPB41L1_ENST00000441639.1_Missense_Mutation_p.R101Q|EPB41L1_ENST00000202028.5_Missense_Mutation_p.R101Q|EPB41L1_ENST00000373941.1_Missense_Mutation_p.R163Q	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	163	FERM.				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					AAGCAGATCCGGAGTGAGTGG	0.537													30	123					0	0	0.804634	0	0	A	34766592	G	A	34766592	3	1	82	1	0	0	0	0	1	0	0	0	5180	1116	39	1	502	1	EPB41L1	20	34766592	Missense_Mutation	SNP	G	TCGA-EJ-7785-01A-11D-2114-08	2520839	34766592	28258928	22	4639											
KCNB1	3745	broad.mit.edu	37	chr20	48098569	48098569	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgtagggtctcggcctcaCgcttgagctcctcgttcatc	4	11	10	16	4	3	1	2	1	1	0	7	1	4	1	3	2	1	4	3	2	1	3			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr20:48098569C>T	ENST00000371741.4	-	1	615	c.449G>A	c.(448-450)cGt>cAt	p.R150H		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	150					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CTCGGCCTCACGCTTGAGCTC	0.577													7	97					0	0	0.248553	0	0	T	48098569	C	T	48098569	3	4	82	1	0	0	0	0	1	0	0	0	8056	536	19	1	2135	1	KCNB1	20	48098569	Missense_Mutation	SNP	C	TCGA-EJ-7785-01A-11D-2114-08	13331977	48098569	14926951	23	4640											
CRYBB3	1417	broad.mit.edu	37	chr22	25599797	25599797	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggagaagggggattatcctCgctgggatgcctggtccaac	8	9	15	9	1	0	1	0	0	0	1	3	4	2	3	3	5	2	1	3	5	3	1			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chr22:25599797C>T	ENST00000215855.2	+	4	342	c.262C>T	c.(262-264)Cgc>Tgc	p.R88C	CRYBB3_ENST00000404334.1_Missense_Mutation_p.R88C	NM_004076.3	NP_004067.1	P26998	CRBB3_HUMAN	crystallin, beta B3	88	Beta/gamma crystallin 'Greek key' 2.				visual perception		protein binding|structural constituent of eye lens			large_intestine(2)|lung(2)|prostate(1)	5						GGATTATCCTCGCTGGGATGC	0.577													33	193					0	0	0.812448	0	0	T	25599797	C	T	25599797	3	4	82	1	0	0	0	0	1	0	0	0	3935	884	31	1	272	1	CRYBB3	22	25599797	Missense_Mutation	SNP	C	TCGA-EJ-7785-01A-11D-2114-08		25599797	25704769	24	4641											
SSX5	6758	broad.mit.edu	37	chrX	48054234	48054234	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acatagatgattttctccgaGgctttcatcttttcccactc	8	16	5	12	1	3	2	1	1	2	1	6	3	4	2	2	1	0	1	2	1	1	6			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chrX:48054234G>A	ENST00000311798.1	-	4	301	c.249C>T	c.(247-249)gcC>gcT	p.A83A	SSX5_ENST00000347757.1_Silent_p.A42A|SSX5_ENST00000376923.1_Silent_p.A42A	NM_021015.3	NP_066295.3	O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5	42	KRAB-related.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						TTTTCTCCGAGGCTTTCATCT	0.388													14	30					0	0	0.500413	0	0	A	48054234	G	A	48054234	2	1	82	1	0	0	0	0	0	0	0	1	15264	987	35	2		2	SSX5	23	48054234	Silent	SNP	G	TCGA-EJ-7785-01A-11D-2114-08		48054234	107216326	25	4642											
ZXDB	158586	broad.mit.edu	37	chrX	57619097	57619097	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgctcctgcccagcagcccGggtgtctgatcgccccgcaa	5	6	11	19	4	1	1	0	1	1	0	3	1	2	1	6	1	3	3	6	1	1	0			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chrX:57619097G>A	ENST00000374888.1	+	1	829	c.616G>A	c.(616-618)Ggg>Agg	p.G206R		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	206					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.G206R(2)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						CCAGCAGCCCGGGTGTCTGAT	0.711													3	12					0	0	0.150653	0	0	A	57619097	G	A	57619097	3	1	82	1	0	0	0	0	1	0	0	0	18291	1116	39	1	618	1	ZXDB	23	57619097	Missense_Mutation	SNP	G	TCGA-EJ-7785-01A-11D-2114-08	9564863	57619097	97651463	26	4643											
GPR112	139378	broad.mit.edu	37	chrX	135485423	135485423	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaatcccggctatcatggtgGcaatcacagtcagtgtgaaa	12	9	11	9	1	3	1	3	1	0	0	4	2	4	1	1	3	0	2	1	3	4	1			TCGA-EJ-7785-01A-11D-2114-08	TCGA-EJ-7785-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b2182a4-8ac1-4d66-be12-cdd906a100a2	f10f7adf-7754-44c5-97cf-66a7b5138f24	g.chrX:135485423G>A	ENST00000394143.1	+	22	8887	c.8596G>A	c.(8596-8598)Gca>Aca	p.A2866T	GPR112_ENST00000370652.1_Missense_Mutation_p.A2866T|GPR112_ENST00000287534.4_Missense_Mutation_p.A2619T|GPR112_ENST00000412101.1_Missense_Mutation_p.A2661T|GPR112_ENST00000394141.1_Missense_Mutation_p.A2661T	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2866					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A2866T(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TATCATGGTGGCAATCACAGT	0.488													3	24					0	0	0.150653	0	0	A	135485423	G	A	135485423	3	1	82	1	0	0	0	0	1	0	0	0	6669	1203	42	2	8670	2	GPR112	23	135485423	Missense_Mutation	SNP	G	TCGA-EJ-7785-01A-11D-2114-08	77866326	135485423	19785137	27	4644											
PADI3	51702	broad.mit.edu	37	chr1	17599863	17599863	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagctgggctacgttcaggCgccgcacaagaccctcccgg	7	5	14	15	4	1	1	1	0	0	1	2	2	2	2	3	4	2	4	3	4	2	2			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr1:17599863C>T	ENST00000375460.3	+	10	1116	c.1076C>T	c.(1075-1077)gCg>gTg	p.A359V		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	359					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TACGTTCAGGCGCCGCACAAG	0.602													4	71					0	0	1	0	0	T	17599863	C	T	17599863	3	4	83	1	0	0	0	0	1	0	0	0	11426	768	27	1	1114	1	PADI3	1	17599863	Missense_Mutation	SNP	C	TCGA-EJ-7786-01A-11D-2114-08		17599863	231650758	1	4645											
KIF17	57576	broad.mit.edu	37	chr1	21040007	21040007	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acatcttcattgtagatctcCaggtaggaggcccggaccag	10	9	11	11	1	3	1	1	0	2	1	4	3	3	3	3	4	0	2	3	4	2	4			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr1:21040007C>G	ENST00000247986.2	-	3	730	c.420G>C	c.(418-420)ctG>ctC	p.L140L	KIF17_ENST00000400463.3_Silent_p.L140L|KIF17_ENST00000375044.1_Silent_p.L40L			Q9P2E2	KIF17_HUMAN	kinesin family member 17	140	Kinesin-motor.				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TGTAGATCTCCAGGTAGGAGG	0.582													3	43					0	0	1	0	0	G	21040007	C	G	21040007	2	3	83	1	0	0	0	0	0	0	0	1	8321	581	21	4		4	KIF17	1	21040007	Silent	SNP	C	TCGA-EJ-7786-01A-11D-2114-08	3440144	21040007	228210614	2	4646											
USP33	23032	broad.mit.edu	37	chr1	78194272	78194272	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgaaaatctacatccgactgGctcttgtcttcttccattgt	8	16	6	11	1	4	1	0	1	4	0	6	2	6	1	2	1	1	1	2	1	3	5			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr1:78194272G>A	ENST00000370793.1	-	11	1282	c.936C>T	c.(934-936)agC>agT	p.S312S	USP33_ENST00000370794.3_Silent_p.S281S|USP33_ENST00000370792.3_Silent_p.S312S|USP33_ENST00000357428.1_Silent_p.S312S	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	312					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						CATCCGACTGGCTCTTGTCTT	0.378													9	86					0	0	1	0	0	A	78194272	G	A	78194272	2	1	83	1	0	0	0	0	0	0	0	1	17124	1194	42	2		2	USP33	1	78194272	Silent	SNP	G	TCGA-EJ-7786-01A-11D-2114-08	57154265	78194272	171056349	3	4647											
COL11A1	1301	broad.mit.edu	37	chr1	103427811	103427811	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tccctgagataccttgaggaCctggatcaccctaaagaata	13	9	8	11	0	1	3	1	2	0	2	2	6	2	5	4	2	1	0	4	2	5	4			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr1:103427811C>A	ENST00000358392.2	-	40	3388	c.3071G>T	c.(3070-3072)gGt>gTt	p.G1024V	COL11A1_ENST00000512756.1_Missense_Mutation_p.G896V|COL11A1_ENST00000353414.4_Missense_Mutation_p.G973V|COL11A1_ENST00000370096.3_Missense_Mutation_p.G1012V	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1012	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	p.G1012V(1)|p.G1024V(1)		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)		ACCTTGAGGACCTGGATCACC	0.388													5	81					0.184627	0.192894	1	1	0	A	103427811	C	A	103427811	3	1	83	1	0	0	0	0	1	0	0	0	3690	507	18	4	2497	4	COL11A1	1	103427811	Missense_Mutation	SNP	C	TCGA-EJ-7786-01A-11D-2114-08	25233539	103427811	145822810	4	4648											
AMPD1	270	broad.mit.edu	37	chr1	115223006	115223006	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cattaggatagacgtaaactAcaccgtccttcattttgagg	12	12	8	9	2	1	2	1	1	0	1	2	3	2	3	2	2	2	1	2	2	5	7			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr1:115223006A>G	ENST00000369538.3	-	5	775	c.728T>C	c.(727-729)gTa>gCa	p.V243A	AMPD1_ENST00000520113.2_Missense_Mutation_p.V247A|AMPD1_ENST00000353928.6_Missense_Mutation_p.V214A	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	214					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	GACGTAAACTACACCGTCCTT	0.443													30	101					0	0	1	0	0	G	115223006	A	G	115223006	3	3	83	1	0	0	0	0	1	0	0	0	581	391	14	3	1646	3	AMPD1	1	115223006	Missense_Mutation	SNP	A	TCGA-EJ-7786-01A-11D-2114-08	11795195	115223006	134027615	5	4649											
C1orf189	388701	broad.mit.edu	37	chr1	154173060	154173060	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtgagtatgtgaatttcGccacctgctccaggtacaga	11	10	10	10	1	0	3	0	2	0	1	2	3	1	3	3	1	2	3	3	1	3	3			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr1:154173060G>A	ENST00000368525.3	-	3	104	c.79C>T	c.(79-81)Cga>Tga	p.R27*		NM_001010979.1	NP_001010979.1	Q5VU69	CA189_HUMAN	chromosome 1 open reading frame 189	27										kidney(1)|large_intestine(3)|lung(1)|skin(2)	7	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					TGTGAATTTCGCCACCTGCTC	0.483													4	213					0	0	1	0	0	A	154173060	G	A	154173060	4	1	83	1	0	0	0	0	0	1	0	0	2035	1095	38	1	234	1	C1orf189	1	154173060	Nonsense_Mutation	SNP	G	TCGA-EJ-7786-01A-11D-2114-08	38950054	154173060	95077561	6	4650											
HMCN1	83872	broad.mit.edu	37	chr1	185953341	185953341	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgtgcgcagtgatgggaGcctccatattgaaagagttc	10	10	12	9	1	0	3	0	2	0	1	2	4	1	4	2	1	2	2	2	1	2	3	rs145551718		TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr1:185953341G>A	ENST00000271588.4	+	19	3060	c.2831G>A	c.(2830-2832)aGc>aAc	p.S944N	HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Missense_Mutation_p.S944N	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	944	Ig-like C2-type 6.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGTGATGGGAGCCTCCATATT	0.388													3	58					0	0	1	0	0	A	185953341	G	A	185953341	3	1	83	1	0	0	0	0	1	0	0	0	7261	971	34	2	2905	2	HMCN1	1	185953341	Missense_Mutation	SNP	G	TCGA-EJ-7786-01A-11D-2114-08	31780281	185953341	63297280	7	4651											
AVPR1B	553	broad.mit.edu	37	chr1	206224447	206224447	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaaaccttgctcatggatTctgggcctctgtgggatgcc	7	11	12	11	0	3	0	1	0	2	0	3	2	3	2	3	3	4	2	3	3	1	2			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr1:206224447T>C	ENST00000367126.4	+	1	472	c.7T>C	c.(7-9)Tct>Cct	p.S3P		NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	3					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	GCTCATGGATTCTGGGCCTCT	0.607													20	445					0	0	1	0	0	C	206224447	T	C	206224447	3	2	83	1	0	0	0	0	1	0	0	0	1230	1783	62	3	9	3	AVPR1B	1	206224447	Missense_Mutation	SNP	T	TCGA-EJ-7786-01A-11D-2114-08	20271106	206224447	43026174	8	4652											
ATP6V1C2	245973	broad.mit.edu	37	chr2	10914947	10914947	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaaggaagggggccttttCactgtgactctgtttcgaaa	10	11	12	8	1	2	1	1	1	1	0	3	4	2	2	1	3	0	1	1	3	3	3			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr2:10914947C>A	ENST00000381661.3	+	9	781	c.672C>A	c.(670-672)ttC>ttA	p.F224L	ATP6V1C2_ENST00000272238.4_Missense_Mutation_p.F224L	NM_144583.3	NP_653184.2	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	224					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		GGGGCCTTTTCACTGTGACTC	0.517													4	194					0.014758	0.0158932	1	1	0	A	10914947	C	A	10914947	3	1	83	1	0	0	0	0	1	0	0	0	1179	825	29	4	702	4	ATP6V1C2	2	10914947	Missense_Mutation	SNP	C	TCGA-EJ-7786-01A-11D-2114-08		10914947	232284426	9	4653											
IWS1	55677	broad.mit.edu	37	chr2	128262415	128262415	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaaacttttttctgtccAtatggctgtctgaatggaag	9	16	10	6	0	2	2	0	2	2	0	3	3	3	3	1	2	1	1	1	2	4	4			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr2:128262415A>G	ENST00000295321.4	-	3	1323	c.1064T>C	c.(1063-1065)aTg>aCg	p.M355T	AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000455721.2_Missense_Mutation_p.M362T	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	355	Glu-rich.				transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		TTTTCTGTCCATATGGCTGTC	0.423													24	142					0	0	1	0	0	G	128262415	A	G	128262415	3	3	83	1	0	0	0	0	1	0	0	0	7975	217	8	3	1443	3	IWS1	2	128262415	Missense_Mutation	SNP	A	TCGA-EJ-7786-01A-11D-2114-08	117347468	128262415	114936958	10	4654											
KCNH7	90134	broad.mit.edu	37	chr2	163279882	163279882	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattggtgtaagtccatgcGtgctggaaatattcttcaag	10	13	10	8	1	2	0	1	0	1	0	3	1	3	1	2	2	2	2	2	2	4	5			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr2:163279882G>A	ENST00000332142.5	-	9	2217	c.2118C>T	c.(2116-2118)caC>caT	p.H706H	KCNH7_ENST00000328032.4_Silent_p.H699H	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	706					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	AAGTCCATGCGTGCTGGAAAT	0.443													7	244					0	0	1	0	0	A	163279882	G	A	163279882	2	1	83	1	0	0	0	0	0	0	0	1	8081	1136	40	1		1	KCNH7	2	163279882	Silent	SNP	G	TCGA-EJ-7786-01A-11D-2114-08	35017467	163279882	79919491	11	4655											
BSN	8927	broad.mit.edu	37	chr3	49697949	49697949	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccacccaacagcctggtcCgcaaggtgaagcggacactg	10	5	12	14	2	0	1	0	1	0	0	1	2	1	2	4	3	4	1	4	3	3	0			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr3:49697949C>T	ENST00000296452.4	+	6	8785	c.8671C>T	c.(8671-8673)Cgc>Tgc	p.R2891C		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2891					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CAGCCTGGTCCGCAAGGTGAA	0.657													6	178					0	0	1	0	0	T	49697949	C	T	49697949	3	4	83	1	0	0	0	0	1	0	0	0	1532	652	23	1	8693	1	BSN	3	49697949	Missense_Mutation	SNP	C	TCGA-EJ-7786-01A-11D-2114-08		49697949	148324481	12	4656											
P2RY14	9934	broad.mit.edu	37	chr3	150932018	150932018	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgcaatgaagaccatacaGtacagcacaggaatgatctg	15	7	9	10	0	1	3	0	2	1	1	1	4	1	4	2	1	4	3	2	1	5	2			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr3:150932018G>A	ENST00000309170.3	-	3	399	c.87C>T	c.(85-87)taC>taT	p.Y29Y	MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron|P2RY14_ENST00000424796.2_Silent_p.Y29Y	NM_001081455.1|NM_014879.3	NP_001074924.1|NP_055694.3	Q15391	P2Y14_HUMAN	purinergic receptor P2Y, G-protein coupled, 14	29						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled|UDP-activated nucleotide receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGACCATACAGTACAGCACAG	0.438													4	139					0	0	1	0	0	A	150932018	G	A	150932018	2	1	83	1	0	0	0	0	0	0	0	1	11398	1024	36	2		2	P2RY14	3	150932018	Silent	SNP	G	TCGA-EJ-7786-01A-11D-2114-08	101234069	150932018	47090412	13	4657											
PLK4	0	broad.mit.edu	37	chr4	128818021	128818021	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggttgtgcaggcaggagtGtcttctatcagttatacctc	7	15	11	8	0	3	0	1	0	2	0	4	1	3	1	1	3	2	4	1	3	3	6			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr4:128818021G>T	ENST00000270861.5	+	15	3043	c.2769G>T	c.(2767-2769)gtG>gtT	p.V923V	PLK4_ENST00000513090.1_Silent_p.V891V|PLK4_ENST00000507249.1_Silent_p.V862V|PLK4_ENST00000515069.1_Silent_p.V845V|PLK4_ENST00000514379.1_Silent_p.V882V	NM_014264.4	NP_055079.3	O00444	PLK4_HUMAN	polo-like kinase 4	923	POLO box.				G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						AGGCAGGAGTGTCTTCTATCA	0.403													5	94					0.014758	0.0158932	1	1	0	T	128818021	G	T	128818021	2	4	83	1	0	0	0	0	0	0	0	1	12146	1364	48	4		4	PLK4	4	128818021	Silent	SNP	G	TCGA-EJ-7786-01A-11D-2114-08		128818021	62336255	14	4658											
TGFBI	7045	broad.mit.edu	37	chr5	135392372	135392372	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agcatgctggtagctgccatCcagtctgcaggactgacgga	9	8	13	11	1	1	1	0	1	1	0	2	3	2	3	2	3	5	5	2	3	1	1			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr5:135392372C>A	ENST00000442011.2	+	12	1727	c.1566C>A	c.(1564-1566)atC>atA	p.I522I	TGFBI_ENST00000305126.8_Silent_p.I522I	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	522	FAS1 4.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TAGCTGCCATCCAGTCTGCAG	0.502													23	81					6.38683e-12	7.4513e-12	1	1	0	A	135392372	C	A	135392372	2	1	83	1	0	0	0	0	0	0	0	1	15880	845	30	4		4	TGFBI	5	135392372	Silent	SNP	C	TCGA-EJ-7786-01A-11D-2114-08		135392372	45522888	15	4659											
SH3TC2	79628	broad.mit.edu	37	chr5	148418008	148418008	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtagaaattcagttcatccTtttctcctggctcataaccc	9	14	6	12	0	4	1	3	0	1	1	6	1	5	1	3	2	1	3	3	2	3	6			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr5:148418008T>C	ENST00000515425.1	-	8	952	c.851A>G	c.(850-852)aAg>aGg	p.K284R	SH3TC2_ENST00000538184.1_5'UTR|SH3TC2_ENST00000512049.1_Missense_Mutation_p.K277R|SH3TC2_ENST00000394358.2_Missense_Mutation_p.K169R	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	284	SH3.						binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGTTCATCCTTTTCTCCTGG	0.483													3	198					0	0	1	0	0	C	148418008	T	C	148418008	3	2	83	1	0	0	0	0	1	0	0	0	14317	1609	56	3	3055	3	SH3TC2	5	148418008	Missense_Mutation	SNP	T	TCGA-EJ-7786-01A-11D-2114-08	13025636	148418008	32497252	16	4660											
PPT2	9374	broad.mit.edu	37	chr6	32130687	32130687	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacagcctggcactccaaccGtaccctttatgagacctgca	10	8	7	16	1	0	1	0	1	0	1	1	2	1	1	5	1	4	3	5	1	3	3			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr6:32130687G>A	ENST00000324816.6	+	9	1437	c.869G>A	c.(868-870)cGt>cAt	p.R290H	PPT2_ENST00000395523.1_Missense_Mutation_p.R290H|PPT2_ENST00000445576.2_Intron|PPT2-EGFL8_ENST00000422437.1_Intron|PPT2_ENST00000375143.2_Missense_Mutation_p.R290H|PPT2_ENST00000361568.2_Missense_Mutation_p.R296H|PPT2-EGFL8_ENST00000453656.2_Intron|PPT2_ENST00000437001.2_Intron|PPT2_ENST00000375137.2_Missense_Mutation_p.R290H			Q9UMR5	PPT2_HUMAN	palmitoyl-protein thioesterase 2	290					protein modification process	lysosome	palmitoyl-(protein) hydrolase activity	p.R296H(1)		NS(1)|endometrium(2)|large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	17						CACTCCAACCGTACCCTTTAT	0.552													4	240					0	0	1	0	0	A	32130687	G	A	32130687	3	1	83	1	0	0	0	0	1	0	0	0	12461	1145	40	1	921	1	PPT2	6	32130687	Missense_Mutation	SNP	G	TCGA-EJ-7786-01A-11D-2114-08		32130687	138984380	17	4661											
MCM3	4172	broad.mit.edu	37	chr6	52137119	52137119	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggcggtgtctgagctcaTgctatcctggctgcgcaggc	4	10	14	13	2	2	1	1	1	1	0	3	1	3	1	2	4	3	4	2	4	1	1			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr6:52137119T>G	ENST00000596288.1	-	12	1969	c.1942A>C	c.(1942-1944)Atg>Ctg	p.M648L	MCM3_ENST00000229854.7_Missense_Mutation_p.M603L|MCM3_ENST00000419835.2_Missense_Mutation_p.M557L	NM_002388.4	NP_002379.3	P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	603					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					TCTGAGCTCATGCTATCCTGG	0.567													5	79					0	0	1	0	0	G	52137119	T	G	52137119	3	3	83	1	0	0	0	0	1	0	0	0	9437	1464	51	5	643	5	MCM3	6	52137119	Missense_Mutation	SNP	T	TCGA-EJ-7786-01A-11D-2114-08	20006432	52137119	118977948	18	4662											
LMBRD1	55788	broad.mit.edu	37	chr6	70447838	70447838	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccccatttcacttactgtgTaagttatagctgccaacatt	10	15	5	11	0	1	0	1	0	0	0	2	0	2	0	3	0	4	3	3	0	5	6			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr6:70447838T>C	ENST00000370577.3	-	7	861	c.632A>G	c.(631-633)tAc>tGc	p.Y211C	LMBRD1_ENST00000370570.1_Missense_Mutation_p.Y138C	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	211					interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						ACTTACTGTGTAAGTTATAGC	0.284													3	27					0	0	1	0	0	C	70447838	T	C	70447838	3	2	83	1	0	0	0	0	1	0	0	0	8883	1638	57	3	1030	3	LMBRD1	6	70447838	Missense_Mutation	SNP	T	TCGA-EJ-7786-01A-11D-2114-08	18310719	70447838	100667229	19	4663											
ARID1B	57492	broad.mit.edu	37	chr6	157528683	157528683	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgtccatggcgcttttatcGaaccttgcccaaggggacgc	8	10	11	12	3	0	0	0	0	0	0	2	2	1	1	3	3	2	1	3	3	3	3			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr6:157528683G>A	ENST00000346085.5	+	20	6409	c.6408G>A	c.(6406-6408)tcG>tcA	p.S2136S	ARID1B_ENST00000367148.1_Silent_p.S2176S|ARID1B_ENST00000350026.5_Silent_p.S2123S|ARID1B_ENST00000275248.4_Silent_p.S2118S	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	2123					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CGCTTTTATCGAACCTTGCCC	0.488													4	167					0	0	1	0	0	A	157528683	G	A	157528683	2	1	83	1	0	0	0	0	0	0	0	1	911	1045	37	1		1	ARID1B	6	157528683	Silent	SNP	G	TCGA-EJ-7786-01A-11D-2114-08	87080845	157528683	13586384	20	4664											
SEMA3D	223117	broad.mit.edu	37	chr7	84671533	84671533	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatcacttccaggaattgaGcaaatcagtctggccttaag	12	10	8	11	0	3	1	2	1	1	0	4	2	4	2	3	2	1	1	3	2	3	3			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr7:84671533G>C	ENST00000284136.6	-	8	973	c.930C>G	c.(928-930)tgC>tgG	p.C310W		NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	310	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						CAGGAATTGAGCAAATCAGTC	0.378													10	293					0	0	1	0	0	C	84671533	G	C	84671533	3	2	83	1	0	0	0	0	1	0	0	0	14081	963	34	4	1443	4	SEMA3D	7	84671533	Missense_Mutation	SNP	G	TCGA-EJ-7786-01A-11D-2114-08		84671533	74467130	21	4665											
DLX6	1750	broad.mit.edu	37	chr7	96635389	96635391	+	In_Frame_Del	DEL	CAG	CAG	-																															agcagcagcagcagcagcaaCagcagcagcagcagcagcag																								rs35478952		TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr7:96635389_96635391delCAG	ENST00000518156.2	+	1	530_532	c.100_102delCAG	c.(100-102)del	p.Q44del	DLX6_ENST00000007660.5_Intron|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000430027.2_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000430404.2_RNA			P56179	DLX6_HUMAN	distal-less homeobox 6	0					nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					gcagcagcaacagcagcagcagc	0.68													3	4	---	---	---	---						-	96635391	CAG	-	96635389	7	5	83	1	0	1	0	1	0	0	0	0	4603	479	17	0	102	0	DLX6	7	96635389	In_Frame_Del	DEL	CAG	TCGA-EJ-7786-01A-11D-2114-08	11963856	96635389	62503274	22	4666											
SOHLH1	402381	broad.mit.edu	37	chr9	138588485	138588485	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agggggcagcccaccccgcaCctggcacagccccaacagtg	9	2	12	18	1	0	0	0	0	0	0	0	0	0	0	6	3	3	3	6	3	1	0			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr9:138588485C>A	ENST00000298466.5	-	5	694	c.634G>T	c.(634-636)Gtg>Ttg	p.V212L	SOHLH1_ENST00000425225.1_Missense_Mutation_p.V212L	NM_001012415.2	NP_001012415.2	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 1	212					cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		CCACCCCGCACCTGGCACAGC	0.672													11	28					3.07112e-06	3.46739e-06	1	1	0	A	138588485	C	A	138588485	3	1	83	1	0	0	0	0	1	0	0	0	14977	507	18	4	586	4	SOHLH1	9	138588485	Missense_Mutation	SNP	C	TCGA-EJ-7786-01A-11D-2114-08		138588485	2624946	23	4667											
CCKBR	887	broad.mit.edu	37	chr11	6281223	6281223	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggccgggggcttccctgtGccgcccgggggcgcctctcc	0	6	17	18	5	1	0	0	0	1	0	3	0	2	0	6	5	1	1	6	5	0	1			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr11:6281223G>C	ENST00000525462.1	+	1	68	c.65G>C	c.(64-66)tGc>tCc	p.C22S	CCKBR_ENST00000525014.1_Missense_Mutation_p.C22S|CCKBR_ENST00000531712.1_Missense_Mutation_p.C22S|CCKBR_ENST00000334619.2_Missense_Mutation_p.C22S|CCKBR_ENST00000532715.1_Missense_Mutation_p.C22S			P32239	GASR_HUMAN	cholecystokinin B receptor	22					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	GCTTCCCTGTGCCGCCCGGGG	0.716													3	10					0	0	1	0	0	C	6281223	G	C	6281223	3	2	83	1	0	0	0	0	1	0	0	0	2901	1319	46	4	67	4	CCKBR	11	6281223	Missense_Mutation	SNP	G	TCGA-EJ-7786-01A-11D-2114-08		6281223	128725293	24	4668											
ZNF215	7762	broad.mit.edu	37	chr11	6977519	6977519	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaagcaaaggcctgcacaagCaataaatgtggaaaggcctt	16	6	11	8	0	0	0	0	0	0	0	0	2	0	1	2	3	3	3	2	3	7	2			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr11:6977519C>T	ENST00000278319.5	+	7	1899	c.1311C>T	c.(1309-1311)agC>agT	p.S437S	ZNF215_ENST00000529903.1_Intron|ZNF215_ENST00000414517.2_Silent_p.S437S	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	437					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		CCTGCACAAGCAATAAATGTG	0.378													4	55					0	0	1	0	0	T	6977519	C	T	6977519	2	4	83	1	0	0	0	0	0	0	0	1	17829	709	25	2		2	ZNF215	11	6977519	Silent	SNP	C	TCGA-EJ-7786-01A-11D-2114-08	696296	6977519	128028997	25	4669											
DCDC1	341019	broad.mit.edu	37	chr11	30938460	30938461	+	Frame_Shift_Del	DEL	CC	CC	-																															attttcaaagagccctttttCcgttttctttggaagactgt																										TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr11:30938460_30938461delCC	ENST00000597505.1	-	24	3407_3408	c.3408_3409delGG	c.(3406-3411)acaafs	p.TE1136fs	DCDC1_ENST00000339794.5_Frame_Shift_Del_p.TE215fs|DCDC1_ENST00000406071.2_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					AGCCCTTTTTCCGTTTTCTTTG	0.416													8	44	---	---	---	---						-	30938461	CC	-	30938460	7	5	83	1	0	1	0	1	0	0	0	0	4307	870	30	0		0	DCDC1	11	30938460	Frame_Shift_Del	DEL	CC	TCGA-EJ-7786-01A-11D-2114-08	23960941	30938460	104068056	26	4670											
OR8H2	390151	broad.mit.edu	37	chr11	55873014	55873014	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acgtggtttccatgagcagaTtgcatttctacgactcaaac	11	12	8	10	2	2	2	1	1	1	1	3	3	3	2	1	1	4	3	1	1	2	4			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr11:55873014T>A	ENST00000313503.1	+	1	496	c.496T>A	c.(496-498)Ttg>Atg	p.L166M		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CATGAGCAGATTGCATTTCTA	0.428										HNSCC(53;0.14)			8	215					0	0	1	0	0	A	55873014	T	A	55873014	3	1	83	1	0	0	0	0	1	0	0	0	11285	1490	52	5	498	5	OR8H2	11	55873014	Missense_Mutation	SNP	T	TCGA-EJ-7786-01A-11D-2114-08	24934554	55873014	79133502	27	4671											
SHANK2	22941	broad.mit.edu	37	chr11	70336436	70336436	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcccagaaacggggctttTgggctcccaggaacagtggg	9	7	15	10	1	0	1	0	0	0	1	1	2	1	2	2	5	3	2	2	5	2	2			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr11:70336436T>G	ENST00000338508.4	-	30	2498	c.2499A>C	c.(2497-2499)ccA>ccC	p.P833P	SHANK2_ENST00000449833.2_Silent_p.P237P|SHANK2_ENST00000449116.2_Silent_p.P234P|SHANK2_ENST00000409161.1_Silent_p.P236P|SHANK2_ENST00000357171.3_Silent_p.P244P|SHANK2_ENST00000423696.2_Silent_p.P453P|SHANK2_ENST00000409530.1_Silent_p.P243P			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	453					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			ACGGGGCTTTTGGGCTCCCAG	0.587													3	96					0	0	1	0	0	G	70336436	T	G	70336436	2	3	83	1	0	0	0	0	0	0	0	1	14320	1799	63	5		5	SHANK2	11	70336436	Silent	SNP	T	TCGA-EJ-7786-01A-11D-2114-08	14463422	70336436	64670080	28	4672											
CDKN1B	1027	broad.mit.edu	37	chr12	12871144	12871145	+	Frame_Shift_Ins	INS	-	-	CT																															ttaattggggctccggctaaINSctctgaggacacgcatttgg																										TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr12:12871144_12871145insCT	ENST00000228872.4	+	1	1087_1088	c.371_372insCT	c.(370-372)atcfs	p.I124fs	CDKN1B_ENST00000477087.1_Intron|CDKN1B_ENST00000396340.1_Frame_Shift_Ins_p.I124fs	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)	124					autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		GCTCCGGCTAACTCTGAGGACA	0.653													16	42	---	---	---	---						CT	12871145	-	CT	12871144	7	5	83	1	0	1	1	0	0	0	0	0	3181	43	2	0	373	0	CDKN1B	12	12871144	Frame_Shift_Ins	INS	-	TCGA-EJ-7786-01A-11D-2114-08		12871144	120980751	29	4673											
OR6C65	403282	broad.mit.edu	37	chr12	55794777	55794777	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggttttctcattattttTccccccgtgattatgggcct	4	18	8	11	1	1	1	1	1	1	0	3	1	2	1	4	2	0	2	4	2	2	6			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr12:55794777T>C	ENST00000379665.2	+	1	564	c.465T>C	c.(463-465)ttT>ttC	p.F155F		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						TCATTATTTTTCCCCCCGTGA	0.438													4	151					0	0	1	0	0	C	55794777	T	C	55794777	2	2	83	1	0	0	0	0	0	0	0	1	11242	1780	62	3		3	OR6C65	12	55794777	Silent	SNP	T	TCGA-EJ-7786-01A-11D-2114-08	42923633	55794777	78057118	30	4674											
ACADS	35	broad.mit.edu	37	chr12	121176678	121176678	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccggctgctgacctggcGcgctgccatgctgaaggata	6	8	14	13	3	0	2	0	2	0	0	0	3	0	3	3	3	4	4	3	3	2	1			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr12:121176678G>A	ENST00000242592.4	+	8	1140	c.989G>A	c.(988-990)cGc>cAc	p.R330H	ACADS_ENST00000411593.2_Missense_Mutation_p.R326H	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain	330						mitochondrial matrix	butyryl-CoA dehydrogenase activity	p.R330H(2)		central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			NADH(DB00157)	CTGACCTGGCGCGCTGCCATG	0.642													4	96					0	0	1	0	0	A	121176678	G	A	121176678	3	1	83	1	0	0	0	0	1	0	0	0	114	1087	38	1	1019	1	ACADS	12	121176678	Missense_Mutation	SNP	G	TCGA-EJ-7786-01A-11D-2114-08	65381901	121176678	12675217	31	4675											
HPD	3242	broad.mit.edu	37	chr12	122292680	122292680	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctcccgcatgattttggCgccccgttcccgtgctttct	2	13	11	15	4	1	1	0	1	1	0	3	1	3	1	4	2	1	4	4	2	0	4			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr12:122292680C>T	ENST00000543163.1	-	8	671	c.226G>A	c.(226-228)Gcc>Acc	p.A76T	HPD_ENST00000289004.4_Missense_Mutation_p.A115T	NM_001171993.1	NP_001165464.1	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	115					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	ATGATTTTGGCGCCCCGTTCC	0.602													6	96					0	0	1	0	0	T	122292680	C	T	122292680	3	4	83	1	0	0	0	0	1	0	0	0	7373	768	27	1	870	1	HPD	12	122292680	Missense_Mutation	SNP	C	TCGA-EJ-7786-01A-11D-2114-08	1116002	122292680	11559215	32	4676											
IRS2	8660	broad.mit.edu	37	chr13	110436062	110436062	+	Frame_Shift_Del	DEL	G	G	-																															ctgcggagaagaagtcgggcGgggtgcccgtggtgaccgcg																										TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr13:110436062delG	ENST00000375856.3	-	1	2853	c.2339delC	c.(2338-2340)cgfs	p.P781fs		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	781					fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			GAAGTCGGGCGGGGTGCCCGT	0.692													2	4	---	---	---	---						-	110436062	G	-	110436062	7	5	83	1	0	1	0	1	0	0	0	0	7885	1116	39	0	1685	0	IRS2	13	110436062	Frame_Shift_Del	DEL	G	TCGA-EJ-7786-01A-11D-2114-08		110436062	4733816	33	4677											
PRMT5	10419	broad.mit.edu	37	chr14	23395506	23395506	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcagccccaatttcaagagCtacatgaggcaaaagaaaaa	18	6	8	9	0	2	3	2	1	0	2	2	3	2	3	2	1	3	2	2	1	7	2			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr14:23395506C>G	ENST00000324366.8	-	7	837		c.e7-1		PRMT5_ENST00000397440.4_Intron|PRMT5_ENST00000553641.1_Splice_Site|PRMT5_ENST00000553897.1_Splice_Site|PRMT5_ENST00000216350.8_Splice_Site|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5_ENST00000397441.2_Splice_Site|PRMT5-AS1_ENST00000599580.1_RNA|PRMT5_ENST00000538452.1_Splice_Site	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5						cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		ATTTCAAGAGCTACATGAGGC	0.473													3	57					0	0	1	0	0	G	23395506	C	G	23395506	5	3	83	1	0	0	0	0	0	0	1	0	12591	811	28	4	1344	4	PRMT5	14	23395506	Splice_Site	SNP	C	TCGA-EJ-7786-01A-11D-2114-08		23395506	83954034	34	4678											
MDGA2	161357	broad.mit.edu	37	chr14	47530529	47530529	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatgctacacatgtgtacGtcccaaaatccgtgaatttt	12	12	8	9	2	0	2	0	1	0	1	2	3	2	2	2	0	3	2	2	0	5	4			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr14:47530529G>A	ENST00000426342.1	-	7	1300	c.554C>T	c.(553-555)aCg>aTg	p.T185M	MDGA2_ENST00000439988.2_Missense_Mutation_p.T414M|MDGA2_ENST00000357362.3_Missense_Mutation_p.T185M|MDGA2_ENST00000399232.2_Missense_Mutation_p.T483M	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	414	Ig-like 2.				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						ACATGTGTACGTCCCAAAATC	0.408													6	182					0	0	1	0	0	A	47530529	G	A	47530529	3	1	83	1	0	0	0	0	1	0	0	0	9457	1145	40	1	1673	1	MDGA2	14	47530529	Missense_Mutation	SNP	G	TCGA-EJ-7786-01A-11D-2114-08	24135023	47530529	59819011	35	4679											
MOAP1	64112	broad.mit.edu	37	chr14	93649914	93649914	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catcgacagtaattaaaggaTtgtttatcttgaggacacga	14	12	9	6	2	1	1	0	1	1	0	2	5	1	3	0	2	0	2	0	2	4	6			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr14:93649914T>C	ENST00000556883.1	-	2	1158	c.674A>G	c.(673-675)aAt>aGt	p.N225S	MOAP1_ENST00000298894.4_Missense_Mutation_p.N225S			Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1	225					activation of caspase activity|apoptotic nuclear change	cytoplasm	protein homodimerization activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		aattaaaggattgtttatctt	0.453													29	95					0	0	1	0	0	C	93649914	T	C	93649914	3	2	83	1	0	0	0	0	1	0	0	0	9729	1493	52	3	385	3	MOAP1	14	93649914	Missense_Mutation	SNP	T	TCGA-EJ-7786-01A-11D-2114-08	46119385	93649914	13699626	36	4680											
THBS1	7057	broad.mit.edu	37	chr15	39874483	39874483	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccgactggtgaagggccccGacccttccagcccagctttc	6	7	11	17	2	0	1	0	1	0	0	2	3	1	1	6	2	2	1	6	2	1	2			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr15:39874483G>A	ENST00000260356.5	+	3	322	c.157G>A	c.(157-159)Gac>Aac	p.D53N		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	53	Heparin-binding.|TSP N-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	GAAGGGCCCCGACCCTTCCAG	0.607													3	35					0	0	1	0	0	A	39874483	G	A	39874483	3	1	83	1	0	0	0	0	1	0	0	0	15913	1058	37	1	163	1	THBS1	15	39874483	Missense_Mutation	SNP	G	TCGA-EJ-7786-01A-11D-2114-08		39874483	62656909	37	4681											
TP53BP1	7158	broad.mit.edu	37	chr15	43748185	43748186	+	Frame_Shift_Ins	INS	-	-	T																															tagctgctttgcattagccaINStttttgagtcttctgttaat																										TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr15:43748185_43748186insT	ENST00000263801.3	-	12	2857_2858	c.2605_2606insA	c.(2605-2607)ggcfs	p.G869fs	TP53BP1_ENST00000382039.3_Frame_Shift_Ins_p.G874fs|TP53BP1_ENST00000382044.4_Frame_Shift_Ins_p.G874fs|TP53BP1_ENST00000450115.2_Frame_Shift_Ins_p.G874fs|TP53BP1_ENST00000605155.1_5'UTR	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	869					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TGCATTAGCCATTTTTGAGTCT	0.47								Other conserved DNA damage response genes					7	189	---	---	---	---						T	43748186	-	T	43748185	7	5	83	1	0	1	1	0	0	0	0	0	16444	217	8	0	3380	0	TP53BP1	15	43748185	Frame_Shift_Ins	INS	-	TCGA-EJ-7786-01A-11D-2114-08	3873702	43748185	58783207	38	4682											
IGDCC3	9543	broad.mit.edu	37	chr15	65622153	65622153	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgacgatgcctgtggtggaCgtctggttggcggcctcctc	4	11	15	11	3	1	1	0	1	1	0	3	3	2	2	3	5	1	1	3	5	0	1			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr15:65622153C>T	ENST00000327987.4	-	12	2159	c.1908G>A	c.(1906-1908)acG>acA	p.T636T		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	636										breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CTGTGGTGGACGTCTGGTTGG	0.617													4	74					0	0	1	0	0	T	65622153	C	T	65622153	2	4	83	1	0	0	0	0	0	0	0	1	7612	523	19	1		1	IGDCC3	15	65622153	Silent	SNP	C	TCGA-EJ-7786-01A-11D-2114-08	21873968	65622153	36909239	39	4683											
BNC1	646	broad.mit.edu	37	chr15	83926322	83926322	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgcatttgtggagctgccGgaggtgcacagttttgtagt	6	15	14	6	1	0	0	0	0	0	0	0	2	0	2	1	3	4	5	1	3	1	5	rs138921537		TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr15:83926322G>A	ENST00000345382.2	-	5	2942	c.2857C>T	c.(2857-2859)Cgg>Tgg	p.R953W	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.R946W	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	953					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						TGGAGCTGCCGGAGGTGCACA	0.507													4	71					0	0	1	0	0	A	83926322	G	A	83926322	3	1	83	1	0	0	0	0	1	0	0	0	1473	1115	39	1	131	1	BNC1	15	83926322	Missense_Mutation	SNP	G	TCGA-EJ-7786-01A-11D-2114-08	18304169	83926322	18605070	40	4684											
CHD2	1106	broad.mit.edu	37	chr15	93485179	93485179	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagattcaagactgggaaagAaaggaggtatgtgtatttgg	14	11	14	2	0	1	3	1	0	0	3	1	5	1	5	0	4	0	2	0	4	6	5			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr15:93485179A>G	ENST00000394196.4	+	8	1888	c.820A>G	c.(820-822)Aaa>Gaa	p.K274E	CHD2_ENST00000420239.2_Missense_Mutation_p.K274E|CHD2_ENST00000557381.1_Missense_Mutation_p.K274E|CHD2_ENST00000536619.1_Missense_Mutation_p.K287E	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	274	Chromo 1.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			ACTGGGAAAGAAAGGAGGTAT	0.328													3	97					0	0	1	0	0	G	93485179	A	G	93485179	3	3	83	1	0	0	0	0	1	0	0	0	3347	247	9	3	846	3	CHD2	15	93485179	Missense_Mutation	SNP	A	TCGA-EJ-7786-01A-11D-2114-08	9558857	93485179	9046213	41	4685											
SEPT1	1731	broad.mit.edu	37	chr16	30393855	30393855	+	Frame_Shift_Del	DEL	G	G	-																															taaggactcaccatgactccGccagccatcactgcacctgc																										TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr16:30393855delG	ENST00000321367.3	-	2	180	c.135delC	c.(133-135)ggfs	p.G46fs	SEPT1_ENST00000571393.1_5'UTR|SEPT1_ENST00000605106.1_Frame_Shift_Del_p.G4fs	NM_052838.4	NP_443070.5	Q8WYJ6	SEPT1_HUMAN	septin 1	0					cell cycle|cell division	microtubule organizing center|septin complex	GTP binding|protein binding			breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			CCATGACTCCGCCAGCCATCA	0.642													2	4	---	---	---	---						-	30393855	G	-	30393855	7	5	83	1	0	1	0	1	0	0	0	0	14113	1102	38	0		0	SEPT1	16	30393855	Frame_Shift_Del	DEL	G	TCGA-EJ-7786-01A-11D-2114-08		30393855	59960898	42	4686											
PARD6A	50855	broad.mit.edu	37	chr16	67694962	67694962	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggcccggccgcagaggacTccggcgcgcagtcccgatag	7	4	15	15	6	0	1	0	0	0	1	2	3	2	2	4	4	0	2	4	4	1	1			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr16:67694962T>C	ENST00000458121.2	+	1	112	c.21T>C	c.(19-21)acT>acC	p.T7T	PARD6A_ENST00000602551.1_Silent_p.T7T|PARD6A_ENST00000219255.3_Silent_p.T7T	NM_001037281.1|NM_016948.2	NP_001032358.1|NP_058644.1	Q9NPB6	PAR6A_HUMAN	par-6 family cell polarity regulator alpha	7	Interaction with PRKCI and PRKCZ.				cell cycle|cell division|cell-cell junction maintenance|tight junction assembly|viral reproduction	cytosol|nucleus|ruffle|tight junction	GTP-dependent protein binding|Rho GTPase binding|transcription factor binding			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CGCAGAGGACTCCGGCGCGCA	0.751													4	49					0	0	1	0	0	C	67694962	T	C	67694962	2	2	83	1	0	0	0	0	0	0	0	1	11492	1538	54	3		3	PARD6A	16	67694962	Silent	SNP	T	TCGA-EJ-7786-01A-11D-2114-08	37301107	67694962	22659791	43	4687											
PDPR	55066	broad.mit.edu	37	chr16	70154579	70154579	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctgtggcctatcacctcTccaaaatggggtggaaggat	9	11	11	10	0	3	0	1	0	2	0	4	2	3	2	3	5	0	0	3	5	4	2			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr16:70154579T>G	ENST00000288050.4	+	3	1141	c.184T>G	c.(184-186)Tcc>Gcc	p.S62A	PDPR_ENST00000398122.3_Intron|PDPR_ENST00000568530.1_Missense_Mutation_p.S62A	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	62					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		CTATCACCTCTCCAAAATGGG	0.557													4	96					0	0	1	0	0	G	70154579	T	G	70154579	3	3	83	1	0	0	0	0	1	0	0	0	11736	1551	54	5	186	5	PDPR	16	70154579	Missense_Mutation	SNP	T	TCGA-EJ-7786-01A-11D-2114-08	2459617	70154579	20200174	44	4688											
C17orf97	400566	broad.mit.edu	37	chr17	263584	263584	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccctcaagggtttccacaCtgaccccgaggccctcaagg	8	6	11	16	1	2	1	2	1	0	0	3	2	3	1	5	4	0	1	5	4	2	1	rs71369083		TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	97074d76-15e5-4923-86f7-3beea8480bf7	g.chr17:263584C>T	ENST00000360127.6	+	2	966	c.950C>T	c.(949-951)aCt>aTt	p.T317I	AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	347	20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.									breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						GGTTTCCACACTGACCCCGAG	0.687													4	52					0	0	1	0	0	T	263584	C	T	263584	3	4	83	1	0	0	0	0	1	0	0	0	1903	565	20	2		2	C17orf97	17	263584	Missense_Mutation	SNP	C	TCGA-EJ-7786-01A-11D-2114-08		263584	80931626	45	4689											
MYH13	8735	broad.mit.edu	37	chr17	10216634	10216634	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcaggtcacagtcgtggCgggaggactgcagggcgtgc	7	5	19	10	3	1	0	1	0	0	0	2	2	1	2	0	5	3	3	0	5	0	0			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr17:10216634C>T	ENST00000418404.3	-	29	4185	c.4022G>A	c.(4021-4023)cGc>cAc	p.R1341H	MYH13_ENST00000570743.1_Missense_Mutation_p.R1341H|MYH13_ENST00000252172.4_Missense_Mutation_p.R1341H			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1341					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						ACAGTCGTGGCGGGAGGACTG	0.572													6	126					0	0	1	0	0	T	10216634	C	T	10216634	3	4	83	1	0	0	0	0	1	0	0	0	10080	768	27	1	1842	1	MYH13	17	10216634	Missense_Mutation	SNP	C	TCGA-EJ-7786-01A-11D-2114-08	9953050	10216634	70978576	46	4690											
SLC39A6	25800	broad.mit.edu	37	chr18	33706784	33706784	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaattattttctccatagcGgtagaaaagctgttgtagat	13	14	9	5	1	1	3	0	0	1	3	2	3	1	3	1	1	2	4	1	1	7	7			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr18:33706784G>T	ENST00000269187.5	-	2	400	c.187C>A	c.(187-189)Cgc>Agc	p.R63S	SLC39A6_ENST00000590986.1_Missense_Mutation_p.R63S|SLC39A6_ENST00000440549.2_Intron	NM_012319.3	NP_036451.3	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	63						integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						TCTCCATAGCGGTAGAAAAGC	0.373													3	98					1	1	1	1	0	T	33706784	G	T	33706784	3	4	83	1	0	0	0	0	1	0	0	0	14677	1116	39	4	2128	4	SLC39A6	18	33706784	Missense_Mutation	SNP	G	TCGA-EJ-7786-01A-11D-2114-08		33706784	44370464	47	4691											
FZR1	51343	broad.mit.edu	37	chr19	3527681	3527681	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cccgcaagatctccaagatcCccttcaaggtgctggacgcg	9	7	10	15	3	2	2	1	0	1	2	4	3	3	3	4	2	1	2	4	2	3	1			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr19:3527681C>G	ENST00000441788.2	+	7	759	c.523C>G	c.(523-525)Ccc>Gcc	p.P175A	FZR1_ENST00000395095.3_Missense_Mutation_p.P175A|FZR1_ENST00000313639.8_Intron	NM_016263.3	NP_057347.2	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	175					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding			endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCAAGATCCCCTTCAAGGT	0.642													4	55					0	0	1	0	0	G	3527681	C	G	3527681	3	3	83	1	0	0	0	0	1	0	0	0	6173	623	22	4	545	4	FZR1	19	3527681	Missense_Mutation	SNP	C	TCGA-EJ-7786-01A-11D-2114-08		3527681	55601302	48	4692											
EMR2	30817	broad.mit.edu	37	chr19	14877064	14877064	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaccttcacagacggtattgTttgggccattgggggacccc	7	10	13	11	1	1	1	1	0	0	1	1	3	1	2	4	4	0	2	4	4	1	5			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr19:14877064T>A	ENST00000315576.3	-	7	1068	c.617A>T	c.(616-618)aAc>aTc	p.N206I	EMR2_ENST00000601345.1_Missense_Mutation_p.N206I|EMR2_ENST00000392967.2_Missense_Mutation_p.N206I|EMR2_ENST00000594076.1_Intron|EMR2_ENST00000596991.2_Missense_Mutation_p.N206I|EMR2_ENST00000346057.1_Intron|EMR2_ENST00000595839.1_Intron|EMR2_ENST00000353876.1_Intron|EMR2_ENST00000594294.1_Intron|EMR2_ENST00000392965.3_Missense_Mutation_p.N206I|EMR2_ENST00000353005.1_Intron|EMR2_ENST00000392964.3_Intron	NM_013447.2	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	206	EGF-like 4; calcium-binding (Potential).				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						GACGGTATTGTTTGGGCCATT	0.592													12	185					0	0	1	0	0	A	14877064	T	A	14877064	3	1	83	1	0	0	0	0	1	0	0	0	5133	1725	60	5	1914	5	EMR2	19	14877064	Missense_Mutation	SNP	T	TCGA-EJ-7786-01A-11D-2114-08	11349383	14877064	44251919	49	4693											
ITGB2	3689	broad.mit.edu	37	chr21	46320321	46320321	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcgcccagcttcccgtcgcCcgcgaaatggaagccgtcat	7	6	12	16	6	1	0	1	0	0	0	3	2	2	1	4	2	2	1	4	2	2	1			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr21:46320321C>A	ENST00000397850.2	-	8	1263	c.811G>T	c.(811-813)Ggc>Tgc	p.G271C	ITGB2_ENST00000397857.1_Missense_Mutation_p.G271C|ITGB2_ENST00000397854.3_Missense_Mutation_p.G214C|ITGB2_ENST00000355153.4_Missense_Mutation_p.G271C|ITGB2_ENST00000397852.1_Missense_Mutation_p.G271C|ITGB2_ENST00000302347.5_Missense_Mutation_p.G271C			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	271	VWFA.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	TTCCCGTCGCCCGCGAAATGG	0.622													15	52					2.32078e-09	2.6632e-09	1	1	0	A	46320321	C	A	46320321	3	1	83	1	0	0	0	0	1	0	0	0	7938	623	22	4	1538	4	ITGB2	21	46320321	Missense_Mutation	SNP	C	TCGA-EJ-7786-01A-11D-2114-08		46320321	1809574	50	4694											
APOBEC3B	9582	broad.mit.edu	37	chr22	39385568	39385568	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtggagcgcctggacaatGgcacctgggtcctgatggac	8	7	16	10	1	0	1	0	1	0	0	1	4	1	4	3	6	1	1	3	6	1	0			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chr22:39385568G>A	ENST00000402182.3	+	5	731	c.676G>A	c.(676-678)Ggc>Agc	p.G226S	APOBEC3B_ENST00000407298.3_Missense_Mutation_p.G226S|APOBEC3B_ENST00000333467.3_Missense_Mutation_p.G226S			Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	226					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					CCTGGACAATGGCACCTGGGT	0.562													13	28					0	0	1	0	0	A	39385568	G	A	39385568	3	1	83	1	0	0	0	0	1	0	0	0	787	1348	47	2	694	2	APOBEC3B	22	39385568	Missense_Mutation	SNP	G	TCGA-EJ-7786-01A-11D-2114-08		39385568	11918998	51	4695											
GLRA2	2742	broad.mit.edu	37	chrX	14627241	14627241	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttttggataaatatggatGcagcccctgccagggtcgca	9	10	11	11	1	0	0	0	0	0	0	1	2	0	2	4	3	3	2	4	3	3	4			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chrX:14627241G>A	ENST00000218075.4	+	7	1374	c.844G>A	c.(844-846)Gca>Aca	p.A282T	GLRA2_ENST00000355020.4_Missense_Mutation_p.A282T|GLRA2_ENST00000443437.2_Missense_Mutation_p.A193T	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	282					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	AAATATGGATGCAGCCCCTGC	0.478													4	75					0	0	1	0	0	A	14627241	G	A	14627241	3	1	83	1	0	0	0	0	1	0	0	0	6497	1319	46	2	942	2	GLRA2	23	14627241	Missense_Mutation	SNP	G	TCGA-EJ-7786-01A-11D-2114-08		14627241	140643319	52	4696											
GRIA3	2892	broad.mit.edu	37	chrX	122616696	122616696	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caatgtggcaggcgttttctAtatacttgtcggaggtctgg	7	14	13	7	2	2	0	0	0	2	0	3	1	2	1	0	5	1	2	0	5	4	6			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chrX:122616696A>C	ENST00000264357.5	+	15	2778	c.2486A>C	c.(2485-2487)tAt>tCt	p.Y829S	GRIA3_ENST00000371251.1_Missense_Mutation_p.Y829S|GRIA3_ENST00000371256.5_Missense_Mutation_p.Y829S|GRIA3_ENST00000542149.1_3'UTR	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	829					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	GGCGTTTTCTATATACTTGTC	0.468													9	54					0	0	1	0	0	C	122616696	A	C	122616696	3	2	83	1	0	0	0	0	1	0	0	0	6810	449	16	5	2663	5	GRIA3	23	122616696	Missense_Mutation	SNP	A	TCGA-EJ-7786-01A-11D-2114-08	107989455	122616696	32653864	53	4697											
MST4	0	broad.mit.edu	37	chrX	131188793	131188793	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaatcatagaccttgaggaAgccgaagatgaaatagaaga	20	6	10	5	1	1	6	1	2	0	4	1	8	1	7	2	1	1	0	2	1	8	3			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chrX:131188793A>G	ENST00000394334.2	+	3	430	c.177A>G	c.(175-177)gaA>gaG	p.E59E	MST4_ENST00000481105.1_Silent_p.E59E|MST4_ENST00000354719.6_Silent_p.E59E|MST4_ENST00000394335.2_Intron|MST4_ENST00000496850.1_Silent_p.E59E	NM_016542.3	NP_057626.2	Q9P289	MST4_HUMAN		59	Protein kinase.				cellular component disassembly involved in apoptosis|regulation of apoptosis	cytosol|Golgi membrane	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					ACCTTGAGGAAGCCGAAGATG	0.373													23	20					0	0	1	0	0	G	131188793	A	G	131188793	2	3	83	1	0	0	0	0	0	0	0	1	9940	69	3	3		3	MST4	23	131188793	Silent	SNP	A	TCGA-EJ-7786-01A-11D-2114-08	8572097	131188793	24081767	54	4698											
SRPK3	26576	broad.mit.edu	37	chrX	153046771	153046771	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttctgggctccgacgacgagGaacaggaagaccccaaagac	13	4	12	12	3	1	2	0	0	1	2	2	7	2	4	3	3	1	1	3	3	3	1			TCGA-EJ-7786-01A-11D-2114-08	TCGA-EJ-7786-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090a3fe0-0591-40bd-80fc-485baf11cc56	8d1ae986-87cd-496a-956f-5dfe60cea2e7	g.chrX:153046771G>T	ENST00000489426.1	+	8	2727	c.361G>T	c.(361-363)Gaa>Taa	p.E121*	SRPK3_ENST00000370104.1_Nonsense_Mutation_p.E54*|SRPK3_ENST00000370101.3_Nonsense_Mutation_p.E54*|SRPK3_ENST00000393786.3_Nonsense_Mutation_p.E54*|SRPK3_ENST00000370100.1_Nonsense_Mutation_p.E12*|SRPK3_ENST00000370108.3_Nonsense_Mutation_p.E54*			Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3	54	Protein kinase.				cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CGACGACGAGGAACAGGAAGA	0.667													3	15					1	1	1	1	0	T	153046771	G	T	153046771	4	4	83	1	0	0	0	0	0	1	0	0	15217	1175	41	4	166	4	SRPK3	23	153046771	Nonsense_Mutation	SNP	G	TCGA-EJ-7786-01A-11D-2114-08	21857978	153046771	2223789	55	4699											
NPHP4	261734	broad.mit.edu	37	chr1	5964711	5964711	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccatctctgctcacaggcacGaggatgtgggtcagggcgcc	7	7	14	13	2	3	0	2	0	1	0	4	2	3	1	2	4	1	2	2	4	0	0			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr1:5964711G>A	ENST00000378156.4	-	16	2374	c.2109C>T	c.(2107-2109)ctC>ctT	p.L703L	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	703					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		TCACAGGCACGAGGATGTGGG	0.572													22	43					0	0	0.706142	0	0	A	5964711	G	A	5964711	2	1	84	1	0	0	0	0	0	0	0	1	10628	1045	37	1		1	NPHP4	1	5964711	Silent	SNP	G	TCGA-EJ-7788-01A-11D-2114-08		5964711	243285910	1	4700											
CFH	3075	broad.mit.edu	37	chr1	196684882	196684882	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttacaatggttggtctgAtttacccatatgttatggta	9	17	10	5	0	1	1	0	1	1	0	1	1	1	1	1	4	2	4	1	4	6	7			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr1:196684882A>G	ENST00000367429.4	+	11	1919	c.1679A>G	c.(1678-1680)gAt>gGt	p.D560G		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	560	Sushi 9.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GGTTGGTCTGATTTACCCATA	0.328													15	137					0	0	0.539581	0	0	G	196684882	A	G	196684882	3	3	84	1	0	0	0	0	1	0	0	0	3305	333	12	3	1739	3	CFH	1	196684882	Missense_Mutation	SNP	A	TCGA-EJ-7788-01A-11D-2114-08	190720171	196684882	52565739	2	4701											
MEMO1	51072	broad.mit.edu	37	chr2	32145945	32145945	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcacatcgagagaggggcaCatgatgagaaggcccaagga	14	4	15	8	1	0	3	0	2	0	2	1	7	0	4	1	4	1	2	1	4	2	0			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr2:32145945C>A	ENST00000295065.4	-	4	556	c.247G>T	c.(247-249)Gtg>Ttg	p.V83L	MEMO1_ENST00000490459.1_5'UTR|DPY30_ENST00000446765.1_5'UTR|MEMO1_ENST00000379383.3_Missense_Mutation_p.V86L|MEMO1_ENST00000404530.1_Missense_Mutation_p.V83L|MEMO1_ENST00000426310.2_Missense_Mutation_p.V60L	NM_015955.2	NP_057039.1	Q9Y316	MEMO1_HUMAN	mediator of cell motility 1	83					regulation of microtubule-based process	cytosol|nucleus				NS(1)|breast(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	17	Acute lymphoblastic leukemia(172;0.155)					GAGAGGGGCACATGATGAGAA	0.373													31	69					1.90571e-15	2.29999e-15	0.796494	1	0	A	32145945	C	A	32145945	3	1	84	1	0	0	0	0	1	0	0	0	9521	478	17	4	670	4	MEMO1	2	32145945	Missense_Mutation	SNP	C	TCGA-EJ-7788-01A-11D-2114-08		32145945	211053428	3	4702											
HEATR5B	54497	broad.mit.edu	37	chr2	37280709	37280709	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgctggcggacacctttaGcttgtttaacacattcagca	9	12	8	12	1	1	0	1	0	0	0	1	1	1	1	2	2	4	4	2	2	2	6			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr2:37280709G>A	ENST00000233099.5	-	17	2536	c.2441C>T	c.(2440-2442)gCt>gTt	p.A814V	HEATR5B_ENST00000354531.2_Missense_Mutation_p.A814V	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	814							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GACACCTTTAGCTTGTTTAAC	0.318													12	36					0	0	0.457914	0	0	A	37280709	G	A	37280709	3	1	84	1	0	0	0	0	1	0	0	0	7073	971	34	2	3854	2	HEATR5B	2	37280709	Missense_Mutation	SNP	G	TCGA-EJ-7788-01A-11D-2114-08	5134764	37280709	205918664	4	4703											
AAK1	22848	broad.mit.edu	37	chr2	69741780	69741780	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgttgctgctgctgctgctgCtggtagaaattctgcattag	6	15	12	8	0	1	1	0	0	1	1	1	1	1	1	0	1	7	9	0	1	3	4			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr2:69741780C>G	ENST00000409085.4	-	13	1975	c.1599G>C	c.(1597-1599)caG>caC	p.Q533H	AAK1_ENST00000409068.1_Missense_Mutation_p.Q533H|AAK1_ENST00000406297.3_Missense_Mutation_p.Q533H	NM_014911.3	NP_055726.3	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	533	Gln-rich.		Q -> H.			coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						gctgctgctgctgGTAGAAAT	0.532													3	31					0	0	0.115264	0	0	G	69741780	C	G	69741780	3	3	84	1	0	0	0	0	1	0	0	0	16	796	28	4	1326	4	AAK1	2	69741780	Missense_Mutation	SNP	C	TCGA-EJ-7788-01A-11D-2114-08	32461071	69741780	173457593	5	4704											
DNAH1	25981	broad.mit.edu	37	chr3	52430809	52430809	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgaatatgatgacatcccctAcaaggtgggcctggggcaga	11	7	13	10	1	0	3	0	2	0	1	1	4	1	3	3	4	1	1	3	4	4	2			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr3:52430809A>T	ENST00000420323.2	+	72	11867	c.11606A>T	c.(11605-11607)tAc>tTc	p.Y3869F		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3934	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GACATCCCCTACAAGGTGGGC	0.597													80	197					0	0	0.870114	0	0	T	52430809	A	T	52430809	3	4	84	1	0	0	0	0	1	0	0	0	4625	391	14	5	11888	5	DNAH1	3	52430809	Missense_Mutation	SNP	A	TCGA-EJ-7788-01A-11D-2114-08		52430809	145591621	6	4705											
TMF1	7110	broad.mit.edu	37	chr3	69075248	69075248	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aacagaaaatggcttgcgttCcttagggagtaaaaaaaatt	17	10	9	5	1	0	1	0	0	0	1	1	2	1	2	1	2	2	3	1	2	8	5			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr3:69075248C>A	ENST00000543976.1	-	14	3013	c.2766_splice	c.e14-1	p.E923_splice	CTD-2013N24.2_ENST00000596732.1_RNA|TMF1_ENST00000489370.1_5'UTR|CTD-2013N24.2_ENST00000601511.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000597366.1_RNA|CTD-2013N24.2_ENST00000599467.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|TMF1_ENST00000398559.2_Splice_Site_p.E920_splice|CTD-2013N24.2_ENST00000595925.1_RNA	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN	TATA element modulatory factor 1	920					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		GGCTTGCGTTCCTTAGGGAGT	0.388													3	40					0.150653	0.152837	0.150653	1	0	A	69075248	C	A	69075248	5	1	84	1	0	0	0	0	0	0	1	0	16288	869	30	4	539	4	TMF1	3	69075248	Splice_Site	SNP	C	TCGA-EJ-7788-01A-11D-2114-08	16644439	69075248	128947182	7	4706											
UMPS	7372	broad.mit.edu	37	chr3	124449418	124449418	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgaagagcgggctttccTcccccatctacatcgatctg	7	11	9	14	2	2	2	0	1	2	1	5	3	4	2	3	1	3	2	3	1	2	2			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr3:124449418T>C	ENST00000232607.2	+	1	206	c.100T>C	c.(100-102)Tcc>Ccc	p.S34P	UMPS_ENST00000413078.2_5'UTR|UMPS_ENST00000536109.1_5'UTR|UMPS_ENST00000538242.1_5'UTR	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN	uridine monophosphate synthetase	34	OPRTase.				'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process	cytosol|nucleus	orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)		CGGGCTTTCCTCCCCCATCTA	0.602													3	98					0	0	0.150653	0	0	C	124449418	T	C	124449418	3	2	84	1	0	0	0	0	1	0	0	0	17041	1551	54	3	102	3	UMPS	3	124449418	Missense_Mutation	SNP	T	TCGA-EJ-7788-01A-11D-2114-08	55374170	124449418	73573012	8	4707											
LPP	4026	broad.mit.edu	37	chr3	188327155	188327155	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcccagcctcctacaccacGgcctccacttcttcaaggcc	7	8	6	20	1	2	0	1	0	1	0	5	0	5	0	7	2	2	0	7	2	2	3			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr3:188327155G>T	ENST00000312675.4	+	6	882	c.636G>T	c.(634-636)acG>acT	p.T212T	LPP_ENST00000448637.1_Silent_p.T212T|LPP_ENST00000471917.1_3'UTR|LPP_ENST00000543006.1_Silent_p.T212T	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	212	Pro-rich.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		CCTACACCACGGCCTCCACTT	0.562			T	"HMGA2, MLL, C12orf9"	"lipoma, leukemia"								40	70					3.43241e-23	4.21525e-23	0.847076	1	0	T	188327155	G	T	188327155	2	4	84	1	0	0	0	0	0	0	0	1	8968	1103	39	4		4	LPP	3	188327155	Silent	SNP	G	TCGA-EJ-7788-01A-11D-2114-08	63877737	188327155	9695275	9	4708											
ADAM29	11086	broad.mit.edu	37	chr4	175897613	175897613	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtacaccacaccgtagtTgtgcaattgttactttcatg	9	15	8	9	1	1	0	1	0	0	0	1	0	1	0	2	0	3	5	2	0	4	6			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr4:175897613T>C	ENST00000359240.3	+	5	1607	c.937T>C	c.(937-939)Tgt>Cgt	p.C313R	ADAM29_ENST00000445694.1_Missense_Mutation_p.C313R|ADAM29_ENST00000404450.4_Missense_Mutation_p.C313R|ADAM29_ENST00000514159.1_Missense_Mutation_p.C313R	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	313	Peptidase M12B.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		ACACCGTAGTTGTGCAATTGT	0.418													40	90					0	0	0.834066	0	0	C	175897613	T	C	175897613	3	2	84	1	0	0	0	0	1	0	0	0	246	1812	63	3	939	3	ADAM29	4	175897613	Missense_Mutation	SNP	T	TCGA-EJ-7788-01A-11D-2114-08		175897613	15256663	10	4709											
CSF1R	1436	broad.mit.edu	37	chr5	149452922	149452922	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcaggctggtggtcagaaaAgggtcccaggtaggtccagt	9	8	15	9	0	2	1	2	0	0	1	4	1	4	1	2	6	0	2	2	6	3	1			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr5:149452922A>G	ENST00000286301.3	-	7	1315	c.1024T>C	c.(1024-1026)Ttt>Ctt	p.F342L	CSF1R_ENST00000543093.1_Intron	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	342	Ig-like C2-type 4.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	TGGTCAGAAAAGGGTCCCAGG	0.567													4	254					0	0	0.217242	0	0	G	149452922	A	G	149452922	3	3	84	1	0	0	0	0	1	0	0	0	3957	72	3	3	1958	3	CSF1R	5	149452922	Missense_Mutation	SNP	A	TCGA-EJ-7788-01A-11D-2114-08		149452922	31462338	11	4710											
PTK7	0	broad.mit.edu	37	chr6	43097526	43097526	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaagctgagatccagccacaGacccaggtcacacttcgttg	11	7	10	13	1	1	2	1	1	0	2	3	4	2	2	3	1	2	2	3	1	1	2			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr6:43097526G>C	ENST00000230419.4	+	3	650	c.429G>C	c.(427-429)caG>caC	p.Q143H	PTK7_ENST00000481273.1_Missense_Mutation_p.Q151H|PTK7_ENST00000471863.1_Missense_Mutation_p.Q143H|PTK7_ENST00000352931.2_Missense_Mutation_p.Q143H|PTK7_ENST00000349241.2_Missense_Mutation_p.Q143H|PTK7_ENST00000345201.2_Missense_Mutation_p.Q143H	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	143	Ig-like C2-type 2.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			TCCAGCCACAGACCCAGGTCA	0.592											OREG0017449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	78					0	0	0.769981	0	0	C	43097526	G	C	43097526	3	2	84	1	0	0	0	0	1	0	0	0	12815	933	33	4	439	4	PTK7	6	43097526	Missense_Mutation	SNP	G	TCGA-EJ-7788-01A-11D-2114-08		43097526	128017541	12	4711											
SERINC1	57515	broad.mit.edu	37	chr6	122779772	122779772	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agttacagtggagttgtttcCactaggacagcatcggcata	11	11	11	8	1	0	0	0	0	0	0	2	2	1	2	1	3	2	5	1	3	3	5			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr6:122779772C>T	ENST00000368454.1	-	4	423	c.94G>A	c.(94-96)Gga>Aga	p.G32R	SERINC1_ENST00000339697.3_Missense_Mutation_p.G32R			Q9NRX5	SERC1_HUMAN	serine incorporator 1	32					phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	L-serine transmembrane transporter activity|protein binding			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1)	13				GBM - Glioblastoma multiforme(226;0.126)		GAGTTGTTTCCACTAGGACAG	0.373													53	108					0	0	0.870114	0	0	T	122779772	C	T	122779772	3	4	84	1	0	0	0	0	1	0	0	0	14133	603	21	2	1303	2	SERINC1	6	122779772	Missense_Mutation	SNP	C	TCGA-EJ-7788-01A-11D-2114-08	79682246	122779772	48335295	13	4712											
ADCYAP1R1	117	broad.mit.edu	37	chr7	31126590	31126590	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgtgtgacagtgtgggctaCgctgagactctactttgatg	7	13	14	7	1	1	3	0	3	1	1	1	4	1	3	0	1	2	2	0	1	2	3			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr7:31126590C>T	ENST00000304166.4	+	11	1146	c.857C>T	c.(856-858)aCg>aTg	p.T286M	ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.T286M|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.T265M|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.T286M	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	286					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						GTGTGGGCTACGCTGAGACTC	0.512													56	94					0	0	0.870114	0	0	T	31126590	C	T	31126590	3	4	84	1	0	0	0	0	1	0	0	0	302	536	19	1	895	1	ADCYAP1R1	7	31126590	Missense_Mutation	SNP	C	TCGA-EJ-7788-01A-11D-2114-08		31126590	128012073	14	4713											
DPP6	1804	broad.mit.edu	37	chr7	154379675	154379675	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagccatgcacctgcagccCtcaggcagcactgtccattg	8	7	10	16	0	1	0	1	0	0	0	2	0	2	0	4	1	5	5	4	1	0	1			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr7:154379675C>T	ENST00000406326.1	+	6	1346	c.943C>T	c.(943-945)Ctc>Ttc	p.L315F	DPP6_ENST00000404039.1_Intron|DPP6_ENST00000377770.3_Intron|DPP6_ENST00000332007.3_Intron|DPP6_ENST00000427557.1_Intron			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	0					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			ACCTGCAGCCCTCAGGCAGCA	0.587													69	112					0	0	0.870114	0	0	T	154379675	C	T	154379675	3	4	84	1	0	0	0	0	1	0	0	0	4756	696	24	2		2	DPP6	7	154379675	Missense_Mutation	SNP	C	TCGA-EJ-7788-01A-11D-2114-08	123253085	154379675	4758988	15	4714											
DAPK1	1612	broad.mit.edu	37	chr9	90252885	90252885	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtggcgagctgtttgacttCttagctgaaaaggaatcttt	9	14	12	6	1	2	2	0	2	2	0	2	4	2	3	0	3	2	3	0	3	4	4			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr9:90252885C>T	ENST00000469640.2	+	4	687	c.312C>T	c.(310-312)ttC>ttT	p.F104F	DAPK1_ENST00000358077.5_Silent_p.F104F|DAPK1_ENST00000491893.1_Silent_p.F104F|DAPK1_ENST00000472284.1_Silent_p.F104F|DAPK1_ENST00000408954.3_Silent_p.F104F			P53355	DAPK1_HUMAN	death-associated protein kinase 1	104	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						TGTTTGACTTCTTAGCTGAAA	0.418									Chronic Lymphocytic Leukemia, Familial Clustering of				8	93					0	0	0.361761	0	0	T	90252885	C	T	90252885	2	4	84	1	0	0	0	0	0	0	0	1	4259	912	32	2		2	DAPK1	9	90252885	Silent	SNP	C	TCGA-EJ-7788-01A-11D-2114-08		90252885	50960546	16	4715											
DDX31	64794	broad.mit.edu	37	chr9	135522235	135522235	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttctgaaggatgaaggccGctaggcagacaagcctcagt	12	8	12	9	1	2	3	1	2	1	1	2	4	2	4	2	3	1	2	2	3	4	2			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr9:135522235G>A	ENST00000372159.3	-	12	1644	c.1493C>T	c.(1492-1494)gCg>gTg	p.A498V	DDX31_ENST00000372153.1_Missense_Mutation_p.A498V|DDX31_ENST00000438527.3_Missense_Mutation_p.A369V|DDX31_ENST00000310532.2_Missense_Mutation_p.A498V	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	498	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		GATGAAGGCCGCTAGGCAGAC	0.532													4	134					0	0	0.248553	0	0	A	135522235	G	A	135522235	3	1	84	1	0	0	0	0	1	0	0	0	4379	1087	38	1	1105	1	DDX31	9	135522235	Missense_Mutation	SNP	G	TCGA-EJ-7788-01A-11D-2114-08	45269350	135522235	5691196	17	4716											
MRGPRD	116512	broad.mit.edu	37	chr11	68747555	68747555	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttccagctcgggctcctcgcGaagcgcctgttggagcacag	6	8	13	14	4	0	0	0	0	0	0	4	2	2	1	3	2	3	4	3	2	1	2			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr11:68747555G>A	ENST00000309106.3	-	1	900	c.901C>T	c.(901-903)Cgc>Tgc	p.R301C		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	301						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GGCTCCTCGCGAAGCGCCTGT	0.677													14	33					0	0	0.557998	0	0	A	68747555	G	A	68747555	3	1	84	1	0	0	0	0	1	0	0	0	9812	1058	37	1	67	1	MRGPRD	11	68747555	Missense_Mutation	SNP	G	TCGA-EJ-7788-01A-11D-2114-08		68747555	66258961	18	4717											
GDPD5	81544	broad.mit.edu	37	chr11	75150998	75150998	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccacatgagacagtactcGtccgggggctgtggacagac	10	6	13	12	2	0	2	0	1	0	2	2	4	1	3	2	3	1	2	2	3	1	1			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr11:75150998G>A	ENST00000526177.1	-	11	2946	c.1068C>T	c.(1066-1068)gaC>gaT	p.D356D	GDPD5_ENST00000533805.1_Silent_p.D249D|GDPD5_ENST00000529721.1_Silent_p.D494D|GDPD5_ENST00000376282.3_Silent_p.D375D|GDPD5_ENST00000336898.3_Silent_p.D494D|GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000533784.1_Silent_p.D375D			Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	494	GDPD.				glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						GACAGTACTCGTCCGGGGGCT	0.602													35	62					0	0	0.779181	0	0	A	75150998	G	A	75150998	2	1	84	1	0	0	0	0	0	0	0	1	6369	1136	40	1		1	GDPD5	11	75150998	Silent	SNP	G	TCGA-EJ-7788-01A-11D-2114-08	6403443	75150998	59855518	19	4718											
DLG2	1740	broad.mit.edu	37	chr11	83243769	83243769	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccctttcgaatcaatcacTccaggtttggcattaaactt	11	13	5	12	1	2	0	2	0	0	0	4	1	3	0	3	2	1	2	3	2	4	4			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr11:83243769T>C	ENST00000398309.2	-	16	2330	c.1860A>G	c.(1858-1860)ggA>ggG	p.G620G	DLG2_ENST00000404783.3_Silent_p.G102G|DLG2_ENST00000531015.1_Silent_p.G587G|DLG2_ENST00000376104.2_Silent_p.G725G|DLG2_ENST00000418306.2_Silent_p.G517G|DLG2_ENST00000280241.8_Silent_p.G659G|DLG2_ENST00000530800.1_Silent_p.G129G|DLG2_ENST00000426717.2_Silent_p.G102G|DLG2_ENST00000543673.1_Silent_p.G725G|DLG2_ENST00000376106.3_Silent_p.G102G|DLG2_ENST00000537455.1_Silent_p.G374G|DLG2_ENST00000532653.1_Silent_p.G620G|DLG2_ENST00000330014.6_Silent_p.G559G|DLG2_ENST00000398304.1_Silent_p.G102G|DLG2_ENST00000524982.1_Silent_p.G620G	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	620						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				AATCAATCACTCCAGGTTTGG	0.398													40	57					0	0	0.870114	0	0	C	83243769	T	C	83243769	2	2	84	1	0	0	0	0	0	0	0	1	4583	1538	54	3		3	DLG2	11	83243769	Silent	SNP	T	TCGA-EJ-7788-01A-11D-2114-08	8092771	83243769	51762747	20	4719											
TYR	7299	broad.mit.edu	37	chr11	89028439	89028439	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcagggcttgtgagcttgCtgtgtcgtcacaagagaaag	9	10	15	7	1	1	2	1	1	0	1	2	3	1	2	0	2	2	4	0	2	2	2			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr11:89028439C>T	ENST00000263321.5	+	5	1997	c.1495C>T	c.(1495-1497)Ctg>Ttg	p.L499L		NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	499					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	TGTGAGCTTGCTGTGTCGTCA	0.537													8	24					0	0	0.335167	0	0	T	89028439	C	T	89028439	2	4	84	1	0	0	0	0	0	0	0	1	16875	796	28	2		2	TYR	11	89028439	Silent	SNP	C	TCGA-EJ-7788-01A-11D-2114-08	5784670	89028439	45978077	21	4720											
CYP27B1	1594	broad.mit.edu	37	chr12	58158697	58158697	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctgcctctcgccgctccAcgtgcctctgagctgcgtgg	2	10	11	18	4	3	1	0	1	3	0	5	1	4	1	5	1	4	2	5	1	0	0			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr12:58158697A>G	ENST00000228606.4	-	5	1012	c.803T>C	c.(802-804)gTg>gCg	p.V268A		NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	268					bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)	TCGCCGCTCCACGTGCCTCTG	0.607													41	84					0	0	0.870114	0	0	G	58158697	A	G	58158697	3	3	84	1	0	0	0	0	1	0	0	0	4182	159	6	3	743	3	CYP27B1	12	58158697	Missense_Mutation	SNP	A	TCGA-EJ-7788-01A-11D-2114-08		58158697	75693198	22	4721											
POSTN	10631	broad.mit.edu	37	chr13	38158190	38158190	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagcctaattgggccacaaGatccgtgaaggtggtttgct	10	10	12	9	1	0	2	0	1	0	1	1	2	1	2	3	3	2	2	3	3	4	3			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr13:38158190G>T	ENST00000379747.4	-	9	1276	c.1159C>A	c.(1159-1161)Ctt>Att	p.L387I	POSTN_ENST00000541179.1_Missense_Mutation_p.L387I|POSTN_ENST00000541481.1_Missense_Mutation_p.L387I|POSTN_ENST00000379743.4_Missense_Mutation_p.L387I|POSTN_ENST00000379742.4_Missense_Mutation_p.L387I|POSTN_ENST00000379749.4_Missense_Mutation_p.L387I	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	387	FAS1 3.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TGGGCCACAAGATCCGTGAAG	0.438													12	34					7.03913e-09	8.07769e-09	0.411799	1	0	T	38158190	G	T	38158190	3	4	84	1	0	0	0	0	1	0	0	0	12307	942	33	4	1411	4	POSTN	13	38158190	Missense_Mutation	SNP	G	TCGA-EJ-7788-01A-11D-2114-08		38158190	77011688	23	4722											
CEBPE	1053	broad.mit.edu	37	chr14	23587880	23587880	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgccacttggtactgcaGgggattgtagctgcctcggc	5	11	15	10	1	0	0	0	0	0	0	1	1	0	1	2	4	5	4	2	4	2	4			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr14:23587880G>A	ENST00000206513.5	-	1	945	c.421C>T	c.(421-423)Ctg>Ttg	p.L141L		NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN	CCAAT/enhancer binding protein (C/EBP), epsilon	141						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		TGGTACTGCAGGGGATTGTAG	0.677													15	21					0	0	0.539581	0	0	A	23587880	G	A	23587880	2	1	84	1	0	0	0	0	0	0	0	1	3224	991	35	2		2	CEBPE	14	23587880	Silent	SNP	G	TCGA-EJ-7788-01A-11D-2114-08		23587880	83761660	24	4723											
TPM1	7168	broad.mit.edu	37	chr15	63336341	63336341	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctggagctggcagagaaaaAggccaccgatgtaagtgcac	13	5	14	9	1	0	1	0	0	0	1	0	4	0	2	2	3	2	5	2	3	3	1			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr15:63336341A>G	ENST00000357980.4	+	3	435	c.356A>G	c.(355-357)aAg>aGg	p.K119R	TPM1_ENST00000559397.1_Intron|TPM1_ENST00000560445.1_Intron|TPM1_ENST00000403994.3_Missense_Mutation_p.K77R|TPM1_ENST00000358278.3_Missense_Mutation_p.K77R|TPM1_ENST00000288398.6_Missense_Mutation_p.K77R|TPM1_ENST00000267996.7_Intron|TPM1_ENST00000559556.1_Missense_Mutation_p.K77R			P09493	TPM1_HUMAN	tropomyosin 1 (alpha)	77					cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing	bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber	actin binding|structural constituent of cytoskeleton|structural constituent of muscle			endometrium(1)|large_intestine(1)|lung(2)	4						GCAGAGAAAAAGGCCACCGAT	0.542													3	78					0	0	0.150653	0	0	G	63336341	A	G	63336341	3	3	84	1	0	0	0	0	1	0	0	0	16466	72	3	3	366	3	TPM1	15	63336341	Missense_Mutation	SNP	A	TCGA-EJ-7788-01A-11D-2114-08		63336341	39195051	25	4724											
ACAN	176	broad.mit.edu	37	chr15	89391173	89391173	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcccccggaccccatgcGtgggtgacaaggacagcagc	9	4	14	14	2	0	2	0	2	0	0	0	4	0	4	4	3	4	1	4	3	1	0	rs62640041		TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr15:89391173G>A	ENST00000439576.2	+	9	2010	c.1636G>A	c.(1636-1638)Gtg>Atg	p.V546M	ACAN_ENST00000352105.7_Missense_Mutation_p.V546M|ACAN_ENST00000561243.1_Missense_Mutation_p.V546M|ACAN_ENST00000558207.1_Missense_Mutation_p.V546M|ACAN_ENST00000559004.1_Missense_Mutation_p.V546M	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	546					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GACCCCATGCGTGGGTGACAA	0.592													10	76					0	0	0.411799	0	0	A	89391173	G	A	89391173	3	1	84	1	0	0	0	0	1	0	0	0	117	1145	40	1	1666	1	ACAN	15	89391173	Missense_Mutation	SNP	G	TCGA-EJ-7788-01A-11D-2114-08	26054832	89391173	13140219	26	4725											
CRAMP1L	57585	broad.mit.edu	37	chr16	1709961	1709961	+	Silent	SNP	G	G	A																															cagtcgatgacgcccccaggGaaggtggtgaccgtcagctc																										TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr16:1709961G>A	ENST00000397412.3	+	11	2409	c.2310G>A	c.(2308-2310)ggG>ggA	p.G770G	CRAMP1L_ENST00000293925.5_Silent_p.G770G|CRAMP1L_ENST00000262317.4_Silent_p.G148G|CRAMP1L_ENST00000436138.3_Silent_p.G767G|LA16c-431H6.6_ENST00000454337.1_3'UTR			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	770						nucleus	DNA binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						CGCCCCCAGGGAAGGTGGTGA	0.637													18	35					0	0	0.639603	0	0	A	1709961	G	A	1709961	2	1	84	1	0	0	0	0	0	0	0	1	3869	1161	41	2		2	CRAMP1L	16	1709961	Silent	SNP	G	TCGA-EJ-7788-01A-11D-2114-08		1709961	88644792	27	4726	21	2									
CRAMP1L	57585	broad.mit.edu	37	chr16	1709962	1709962	+	Missense_Mutation	SNP	A	A	G																															agtcgatgacgcccccagggAaggtggtgaccgtcagctct																										TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr16:1709962A>G	ENST00000397412.3	+	11	2410	c.2311A>G	c.(2311-2313)Aag>Gag	p.K771E	CRAMP1L_ENST00000293925.5_Missense_Mutation_p.K771E|CRAMP1L_ENST00000262317.4_Missense_Mutation_p.K149E|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.K768E|LA16c-431H6.6_ENST00000454337.1_3'UTR			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	771						nucleus	DNA binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						GCCCCCAGGGAAGGTGGTGAC	0.637													18	34					0	0	0.654019	0	0	G	1709962	A	G	1709962	3	3	84	1	0	0	0	0	1	0	0	0	3869	247	9	3	2349	3	CRAMP1L	16	1709962	Missense_Mutation	SNP	A	TCGA-EJ-7788-01A-11D-2114-08	1	1709962	88644791	28	4727	21	2									
CBLN1	869	broad.mit.edu	37	chr16	49314902	49314902	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagatccctttgcgcggggCgatgaaagtgctgcgttctg	6	11	15	9	4	1	2	0	1	1	1	2	3	2	2	1	2	3	3	1	2	2	3			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr16:49314902C>A	ENST00000219197.6	-	2	681	c.316G>T	c.(316-318)Gcc>Tcc	p.A106S	CBLN1_ENST00000536749.1_Missense_Mutation_p.A106S	NM_004352.3	NP_004343.1	P23435	CBLN1_HUMAN	cerebellin 1 precursor	106	C1q.|Necessary for interaction with CBLN3, and homotrimerization (By similarity).				nervous system development|synaptic transmission	cell junction|extracellular region|synapse				breast(1)|kidney(3)|large_intestine(2)|lung(3)	9		all_cancers(37;0.0766)|all_lung(18;0.24)				TTGCGCGGGGCGATGAAAGTG	0.542													30	57					1.45844e-13	1.73035e-13	0.769981	1	0	A	49314902	C	A	49314902	3	1	84	1	0	0	0	0	1	0	0	0	2722	768	27	4	273	4	CBLN1	16	49314902	Missense_Mutation	SNP	C	TCGA-EJ-7788-01A-11D-2114-08	47604940	49314902	41039851	29	4728											
FOXC2	2303	broad.mit.edu	37	chr16	86601138	86601138	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccaccaccagcccgcggCgcctaaggacctggtgaagc	9	3	11	18	3	0	1	0	1	0	0	0	2	0	2	7	3	2	0	7	3	2	1			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr16:86601138C>T	ENST00000320354.4	+	1	282	c.197C>T	c.(196-198)gCg>gTg	p.A66V	RP11-463O9.5_ENST00000563280.1_RNA	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	66					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						CAGCCCGCGGCGCCTAAGGAC	0.657									Late-onset Hereditary Lymphedema				21	48					0	0	0.667858	0	0	T	86601138	C	T	86601138	3	4	84	1	0	0	0	0	1	0	0	0	6028	768	27	1	199	1	FOXC2	16	86601138	Missense_Mutation	SNP	C	TCGA-EJ-7788-01A-11D-2114-08	37286236	86601138	3753615	30	4729											
RALBP1	10928	broad.mit.edu	37	chr18	9522268	9522268	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtttgctgaagcagtatttgCgagaccttccagagaatttg	10	13	11	7	1	0	3	0	1	0	2	1	5	1	3	2	0	3	4	2	0	3	5			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr18:9522268C>T	ENST00000019317.4	+	4	1037	c.814C>T	c.(814-816)Cga>Tga	p.R272*	RALBP1_ENST00000383432.3_Nonsense_Mutation_p.R272*			Q15311	RBP1_HUMAN	ralA binding protein 1	272	Rho-GAP.				chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14						GCAGTATTTGCGAGACCTTCC	0.483													9	68					0	0	0.335167	0	0	T	9522268	C	T	9522268	4	4	84	1	0	0	0	0	0	1	0	0	13064	760	27	1	824	1	RALBP1	18	9522268	Nonsense_Mutation	SNP	C	TCGA-EJ-7788-01A-11D-2114-08		9522268	68554980	31	4730											
KRI1	65095	broad.mit.edu	37	chr19	10670558	10670558	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctgtttcttcagaaacagCtccccttcgtctgaggagtc	7	13	8	13	1	3	2	1	1	2	1	7	3	5	3	3	1	2	2	3	1	1	3			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr19:10670558C>T	ENST00000312962.6	-	10	892	c.873G>A	c.(871-873)gaG>gaA	p.E291E	KRI1_ENST00000361821.5_Silent_p.E287E	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	291	Glu-rich.									NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			TCAGAAACAGCTCCCCTTCGT	0.592													11	27					0	0	0.361761	0	0	T	10670558	C	T	10670558	2	4	84	1	0	0	0	0	0	0	0	1	8487	796	28	2		2	KRI1	19	10670558	Silent	SNP	C	TCGA-EJ-7788-01A-11D-2114-08		10670558	48458425	32	4731											
MED26	9441	broad.mit.edu	37	chr19	16688490	16688490	+	Frame_Shift_Del	DEL	T	T	-																															gatgagcttcccaagtcgtgTttcctacaaccagagggaga																										TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr19:16688490delT	ENST00000263390.3	-	3	413	c.151delA	c.(151-153)cafs	p.T51fs	CTC-429P9.4_ENST00000593962.1_5'UTR|CTD-3222D19.2_ENST00000409035.1_Frame_Shift_Del_p.T59fs	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN	mediator complex subunit 26	51	TFIIS N-terminal.				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						CCAAGTCGTGTTTCCTACAAC	0.537													23	44	---	---	---	---						-	16688490	T	-	16688490	7	5	84	1	0	1	0	1	0	0	0	0	9494	1725	60	0	1655	0	MED26	19	16688490	Frame_Shift_Del	DEL	T	TCGA-EJ-7788-01A-11D-2114-08	6017932	16688490	42440493	33	4732											
ZNF615	284370	broad.mit.edu	37	chr19	52498074	52498074	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtgatgctgcagaggatcAtcaattttcctgatttctag	11	14	9	7	0	3	3	2	2	1	1	4	4	4	4	1	1	2	2	1	1	3	4			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr19:52498074A>T	ENST00000602063.1	-	6	604	c.255T>A	c.(253-255)gaT>gaA	p.D85E	ZNF615_ENST00000391795.3_Missense_Mutation_p.D90E|ZNF615_ENST00000376716.5_Missense_Mutation_p.D85E|ZNF615_ENST00000598071.1_Missense_Mutation_p.D96E|ZNF615_ENST00000594083.1_Missense_Mutation_p.D96E			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	85					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		GCAGAGGATCATCAATTTTCC	0.328													6	37					0	0	0.27861	0	0	T	52498074	A	T	52498074	3	4	84	1	0	0	0	0	1	0	0	0	18097	214	8	5	1944	5	ZNF615	19	52498074	Missense_Mutation	SNP	A	TCGA-EJ-7788-01A-11D-2114-08	35809584	52498074	6630909	34	4733											
STK35	140901	broad.mit.edu	37	chr20	2097968	2097968	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagctgctaacccacaggacCggcctgatgcctttgaactt	9	10	9	13	1	0	2	0	2	0	0	0	3	0	3	4	2	5	2	4	2	3	4			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr20:2097968C>T	ENST00000381482.3	+	3	1820	c.1549C>T	c.(1549-1551)Cgg>Tgg	p.R517W	STK35_ENST00000246032.3_Missense_Mutation_p.R384W|STK35_ENST00000400064.3_Intron			Q8TDR2	STK35_HUMAN	serine/threonine kinase 35	517	Protein kinase.					cytoplasm|nucleolus	ATP binding|protein serine/threonine kinase activity			large_intestine(2)|liver(2)|lung(6)|ovary(1)|prostate(2)	13						CCCACAGGACCGGCCTGATGC	0.473													14	93					0	0	0.520397	0	0	T	2097968	C	T	2097968	3	4	84	1	0	0	0	0	1	0	0	0	15357	643	23	1	1559	1	STK35	20	2097968	Missense_Mutation	SNP	C	TCGA-EJ-7788-01A-11D-2114-08		2097968	60927552	35	4734											
HAO1	54363	broad.mit.edu	37	chr20	7894923	7894923	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccatcttctctgcctgccGcactagcttcttggtgactt	4	14	8	15	1	3	1	0	1	3	0	4	1	3	1	3	1	3	2	3	1	1	5			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr20:7894923G>A	ENST00000378789.3	-	3	484	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	145	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TCTGCCTGCCGCACTAGCTTC	0.517													23	67					0	0	0.654019	0	0	A	7894923	G	A	7894923	3	1	84	1	0	0	0	0	1	0	0	0	6992	1086	38	1	703	1	HAO1	20	7894923	Missense_Mutation	SNP	G	TCGA-EJ-7788-01A-11D-2114-08	5796955	7894923	55130597	36	4735											
ATP9A	10079	broad.mit.edu	37	chr20	50244193	50244193	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttctttgccaccacgagcacCcgcagcccttctcgggccat	6	9	8	18	3	2	0	0	0	2	0	3	1	2	0	5	1	3	2	5	1	0	3			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr20:50244193C>A	ENST00000338821.5	-	17	2055	c.1791G>T	c.(1789-1791)cgG>cgT	p.R597R	ATP9A_ENST00000402822.1_Silent_p.R476R|ATP9A_ENST00000311637.5_Silent_p.R461R	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	597					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CCACGAGCACCCGCAGCCCTT	0.567													104	264					4.64173e-58	5.90766e-58	0.870114	1	0	A	50244193	C	A	50244193	2	1	84	1	0	0	0	0	0	0	0	1	1196	610	22	4		4	ATP9A	20	50244193	Silent	SNP	C	TCGA-EJ-7788-01A-11D-2114-08	42349270	50244193	12781327	37	4736											
CYP24A1	0	broad.mit.edu	37	chr20	52779274	52779274	+	Silent	SNP	C	C	T																															accgtttccaccgcagccagCtggagctctgtgacagcagc																										TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr20:52779274C>T	ENST00000216862.3	-	7	1365	c.972G>A	c.(970-972)caG>caA	p.Q324Q	CYP24A1_ENST00000395955.3_Silent_p.Q324Q|CYP24A1_ENST00000395954.3_Silent_p.Q182Q	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	324					hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	CCGCAGCCAGCTGGAGCTCTG	0.418													8	59					0	0	0.307466	0	0	T	52779274	C	T	52779274	2	4	84	1	0	0	0	0	0	0	0	1	4177	796	28	2		2	CYP24A1	20	52779274	Silent	SNP	C	TCGA-EJ-7788-01A-11D-2114-08	2535081	52779274	10246246	38	4737	22	2									
CYP24A1	0	broad.mit.edu	37	chr20	52779277	52779277	+	Silent	SNP	G	G	T																															gtttccaccgcagccagctgGagctctgtgacagcagcata																										TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr20:52779277G>T	ENST00000216862.3	-	7	1362	c.969C>A	c.(967-969)ctC>ctA	p.L323L	CYP24A1_ENST00000395955.3_Silent_p.L323L|CYP24A1_ENST00000395954.3_Silent_p.L181L	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	323					hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	CAGCCAGCTGGAGCTCTGTGA	0.418													9	59					7.48243e-07	8.4479e-07	0.335167	1	0	T	52779277	G	T	52779277	2	4	84	1	0	0	0	0	0	0	0	1	4177	1161	41	4		4	CYP24A1	20	52779277	Silent	SNP	G	TCGA-EJ-7788-01A-11D-2114-08	3	52779277	10246243	39	4738	22	2									
TOP3B	8940	broad.mit.edu	37	chr22	22324625	22324625	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggtccagctcctggcgagCatccactgagagcgcctcgt	7	7	12	15	3	0	1	0	1	0	1	4	3	3	1	4	2	3	2	4	2	0	0			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chr22:22324625C>T	ENST00000398793.2	-	6	972	c.538G>A	c.(538-540)Gct>Act	p.A180T	TOP3B_ENST00000413067.2_Intron|TOP3B_ENST00000357179.5_Missense_Mutation_p.A180T	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	180					DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		TCCTGGCGAGCATCCACTGAG	0.622													7	72					0	0	0.307466	0	0	T	22324625	C	T	22324625	3	4	84	1	0	0	0	0	1	0	0	0	16429	710	25	2	2102	2	TOP3B	22	22324625	Missense_Mutation	SNP	C	TCGA-EJ-7788-01A-11D-2114-08		22324625	28979941	40	4739											
MAGEB6	158809	broad.mit.edu	37	chrX	26212431	26212431	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcttcacccactggctcGcctgatgcaggtgtttcagg	6	10	13	12	1	2	1	2	1	0	0	3	2	2	2	2	4	2	4	2	4	0	2			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chrX:26212431G>T	ENST00000379034.1	+	2	617	c.468G>T	c.(466-468)tcG>tcT	p.S156S		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	156	Ser-rich.							p.S156S(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CCACTGGCTCGCCTGATGCAG	0.507													3	34					0.115264	0.118654	0.115264	1	0	T	26212431	G	T	26212431	2	4	84	1	0	0	0	0	0	0	0	1	9229	1074	38	4		4	MAGEB6	23	26212431	Silent	SNP	G	TCGA-EJ-7788-01A-11D-2114-08		26212431	129058129	41	4740											
GK	2710	broad.mit.edu	37	chrX	30737631	30737631	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attgggagcccagcgcaagaGggtaagtattgaaaatatgg	14	8	14	5	1	0	2	0	1	0	1	0	3	0	3	1	3	2	3	1	3	6	5			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chrX:30737631G>C	ENST00000378943.3	+	14	1311	c.1133_splice	c.e14+1	p.G378_splice	RP11-242C19.2_ENST00000497961.1_RNA|GK_ENST00000427190.1_Splice_Site_p.G179_splice|GK-AS1_ENST00000464659.1_RNA|GK_ENST00000378945.3_Splice_Site_p.G378_splice|GK_ENST00000378946.3_Splice_Site_p.G384_splice	NM_001128127.2	NP_001121599.1	P32189	GLPK_HUMAN	glycerol kinase	384					glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity			central_nervous_system(1)|large_intestine(3)	4						CAGCGCAAGAGGGTAAGTATT	0.353													29	15					0	0	0.804634	0	0	C	30737631	G	C	30737631	5	2	84	1	0	0	0	0	0	0	1	0	6462	1014	35	4	1208	4	GK	23	30737631	Splice_Site	SNP	G	TCGA-EJ-7788-01A-11D-2114-08	4525200	30737631	124532929	42	4741											
SHROOM4	57477	broad.mit.edu	37	chrX	50350672	50350674	+	In_Frame_Del	DEL	TCT	TCT	-																															aatactggggtggcagctccTcttcctcctcctctgcctcc																								rs3747282	byFrequency	TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chrX:50350672_50350674delTCT	ENST00000376020.2	-	6	3493_3495	c.3468_3470delAGA	c.(3466-3471)gag>ga	p.EE1156del	SHROOM4_ENST00000460112.3_In_Frame_Del_p.EE1040del|SHROOM4_ENST00000289292.7_In_Frame_Del_p.EE1156del	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	1156	Glu-rich.				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	p.E1156E(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					TGGCAGctcctcttcctcctcct	0.557													4	7	---	---	---	---						-	50350674	TCT	-	50350672	7	5	84	1	0	1	0	1	0	0	0	0	14351	1551	54	0	1027	0	SHROOM4	23	50350672	In_Frame_Del	DEL	TCT	TCGA-EJ-7788-01A-11D-2114-08	19613041	50350672	104919888	43	4742											
MAGEC3	139081	broad.mit.edu	37	chrX	140983190	140983190	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttagacctggccaatcctCaaggtaagggccctaaggga	11	8	11	11	0	2	1	1	0	1	1	3	2	3	2	4	4	0	1	4	4	5	3			TCGA-EJ-7788-01A-11D-2114-08	TCGA-EJ-7788-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea80f854-fec4-4811-9bec-038808522568	8dc89778-02e1-41c1-9b74-554f60f86c4d	g.chrX:140983190C>A	ENST00000298296.1	+	5	1045	c.1045C>A	c.(1045-1047)Caa>Aaa	p.Q349K	MAGEC3_ENST00000544766.1_5'UTR|MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000448920.1_Missense_Mutation_p.Q101K|MAGEC3_ENST00000443323.2_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	349	MAGE 1.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GGCCAATCCTCAAGGTAAGGG	0.577													45	27					8.72198e-27	1.09025e-26	0.870114	1	0	A	140983190	C	A	140983190	3	1	84	1	0	0	0	0	1	0	0	0	9232	827	29	4	1063	4	MAGEC3	23	140983190	Missense_Mutation	SNP	C	TCGA-EJ-7788-01A-11D-2114-08	90632518	140983190	14287370	44	4743											
NFYC	4802	broad.mit.edu	37	chr1	41204550	41204550	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggatttggtggtactagcaGcagtgatgcccagcaaagcc	11	8	13	9	0	0	1	0	1	0	0	0	2	0	2	2	3	6	4	2	3	3	3			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr1:41204550G>A	ENST00000372652.1	+	2	303	c.35G>A	c.(34-36)aGc>aAc	p.S12N	NFYC_ENST00000447388.3_Missense_Mutation_p.S12N|NFYC_ENST00000440226.3_Missense_Mutation_p.S12N|NFYC_ENST00000372651.1_Missense_Mutation_p.S12N|NFYC_ENST00000372653.1_Missense_Mutation_p.S12N|NFYC_ENST00000372654.1_Missense_Mutation_p.S12N|NFYC_ENST00000308733.5_Missense_Mutation_p.S12N|NFYC_ENST00000427410.2_Missense_Mutation_p.S12N|NFYC_ENST00000456393.2_Missense_Mutation_p.S12N|NFYC_ENST00000425457.2_Missense_Mutation_p.S12N			Q13952	NFYC_HUMAN	nuclear transcription factor Y, gamma	12					protein folding|regulation of transcription from RNA polymerase II promoter	CCAAT-binding factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)			GGTACTAGCAGCAGTGATGCC	0.418													3	65					0	0	1	0	0	A	41204550	G	A	41204550	3	1	85	1	0	0	0	0	1	0	0	0	10438	971	34	2	37	2	NFYC	1	41204550	Missense_Mutation	SNP	G	TCGA-EJ-7789-01A-11D-2114-08		41204550	208046071	1	4744											
DOCK7	85440	broad.mit.edu	37	chr1	62941378	62941378	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcccattaatggacttacCtcttctttatgagtgacatt	9	17	6	9	0	2	2	0	2	2	0	2	3	2	3	2	1	2	0	2	1	3	7			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr1:62941378C>G	ENST00000251157.5	-	45	5961	c.5928_splice	c.e45+1	p.E1976_splice	DOCK7_ENST00000340370.5_Splice_Site_p.E1956_splice|DOCK7_ENST00000489185.1_5'UTR	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1987	DHR-2.				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						ATGGACTTACCTCTTCTTTAT	0.378													48	72					0	0	1	0	0	G	62941378	C	G	62941378	5	3	85	1	0	0	0	0	0	0	1	0	4719	695	24	4	481	4	DOCK7	1	62941378	Splice_Site	SNP	C	TCGA-EJ-7789-01A-11D-2114-08	21736828	62941378	186309243	2	4745											
GTF2B	2959	broad.mit.edu	37	chr1	89319013	89319013	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgtaacatcagcaacaccAgcaatatctccaatttctaa	16	11	3	11	0	3	0	1	0	2	0	4	0	3	0	2	0	4	3	2	0	6	5			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr1:89319013A>T	ENST00000370500.5	-	7	952	c.834T>A	c.(832-834)gcT>gcA	p.A278A		NM_001514.5	NP_001505.1	Q00403	TF2B_HUMAN	general transcription factor IIB	278					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	thyroid hormone receptor binding|translation initiation factor activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10		Lung NSC(277;0.123)		all cancers(265;0.0131)|Epithelial(280;0.0255)		CAGCAACACCAGCAATATCTC	0.398													49	59					0	0	1	0	0	T	89319013	A	T	89319013	2	4	85	1	0	0	0	0	0	0	0	1	6896	175	7	5		5	GTF2B	1	89319013	Silent	SNP	A	TCGA-EJ-7789-01A-11D-2114-08	26377635	89319013	159931608	3	4746											
OR2L2	26246	broad.mit.edu	37	chr1	248201938	248201938	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggcctatgatcgttatgtGgccatttgctttcctctcca	6	16	8	11	1	1	1	0	1	1	0	4	1	2	1	4	2	1	2	4	2	2	4			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr1:248201938G>T	ENST00000366479.2	+	1	465	c.369G>T	c.(367-369)gtG>gtT	p.V123V	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			ATCGTTATGTGGCCATTTGCT	0.438													57	62					2.3441e-25	3.1677e-25	1	1	0	T	248201938	G	T	248201938	2	4	85	1	0	0	0	0	0	0	0	1	11055	1335	47	4		4	OR2L2	1	248201938	Silent	SNP	G	TCGA-EJ-7789-01A-11D-2114-08	158882925	248201938	1048683	4	4747											
APOB	338	broad.mit.edu	37	chr2	21231311	21231311	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtttgagagttgtgcatttGcttgaaaatcaaaattgaga	13	14	11	3	0	1	3	1	3	0	2	1	5	1	3	0	1	2	4	0	1	4	5			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr2:21231311G>T	ENST00000233242.1	-	26	8556	c.8429C>A	c.(8428-8430)gCa>gAa	p.A2810E		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2810					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTGTGCATTTGCTTGAAAATC	0.453													42	115					2.47872e-24	3.26148e-24	1	1	0	T	21231311	G	T	21231311	3	4	85	1	0	0	0	0	1	0	0	0	782	1319	46	4	5278	4	APOB	2	21231311	Missense_Mutation	SNP	G	TCGA-EJ-7789-01A-11D-2114-08		21231311	221968062	5	4748											
POMC	5443	broad.mit.edu	37	chr2	25384212	25384212	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcccggagtcgctggccaGtcagctccctcttgaactcc	5	9	9	18	2	2	1	1	1	1	0	6	2	5	2	5	2	2	2	5	2	1	1			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr2:25384212G>A	ENST00000405623.1	-	3	997	c.542C>T	c.(541-543)aCt>aTt	p.T181I	POMC_ENST00000395826.2_Missense_Mutation_p.T181I|POMC_ENST00000264708.3_Missense_Mutation_p.T181I|POMC_ENST00000380794.1_Missense_Mutation_p.T181I			P01189	COLI_HUMAN	proopiomelanocortin	181					cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)	TCGCTGGCCAGTCAGCTCCCT	0.711													3	10					0	0	1	0	0	A	25384212	G	A	25384212	3	1	85	1	0	0	0	0	1	0	0	0	12290	1029	36	2	265	2	POMC	2	25384212	Missense_Mutation	SNP	G	TCGA-EJ-7789-01A-11D-2114-08	4152901	25384212	217815161	6	4749											
CNTN3	5067	broad.mit.edu	37	chr3	74474079	74474079	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tactcctcattttggttttaAaattttcaagatctgatttg	10	20	5	6	0	3	2	2	1	1	1	4	2	4	2	1	1	1	1	1	1	4	8			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr3:74474079A>T	ENST00000263665.6	-	4	398	c.371T>A	c.(370-372)tTt>tAt	p.F124Y		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	124	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TTTGGTTTTAAAATTTTCAAG	0.398													8	11					0	0	1	0	0	T	74474079	A	T	74474079	3	4	85	1	0	0	0	0	1	0	0	0	3665	14	1	5	2791	5	CNTN3	3	74474079	Missense_Mutation	SNP	A	TCGA-EJ-7789-01A-11D-2114-08		74474079	123548351	7	4750											
C3orf79	152118	broad.mit.edu	37	chr3	153202433	153202433	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcagttgccatcttctgcctActcctgagctttcatccaag	7	14	6	14	0	4	1	2	1	2	0	6	1	6	1	4	0	4	2	4	0	2	4			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr3:153202433A>C	ENST00000446603.2	+	1	150	c.88A>C	c.(88-90)Act>Cct	p.T30P	RP11-23D24.2_ENST00000493214.2_RNA	NM_001101337.1	NP_001094807.1	P0CE67	CC079_HUMAN	chromosome 3 open reading frame 79	30										endometrium(1)|large_intestine(3)	4						TCTTCTGCCTACTCCTGAGCT	0.433													124	154					0	0	1	0	0	C	153202433	A	C	153202433	3	2	85	1	0	0	0	0	1	0	0	0	2261	391	14	5	90	5	C3orf79	3	153202433	Missense_Mutation	SNP	A	TCGA-EJ-7789-01A-11D-2114-08	78728354	153202433	44819997	8	4751											
ELOVL6	79071	broad.mit.edu	37	chr4	110972803	110972803	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatagtcatgaaccaaccTcccccggcaaccatgtcttt	10	11	5	15	1	3	1	2	1	1	0	4	1	4	1	5	1	3	1	5	1	4	3			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr4:110972803T>C	ENST00000394607.3	-	5	652	c.489A>G	c.(487-489)ggA>ggG	p.G163G	ELOVL6_ENST00000302274.3_Silent_p.G163G			Q9H5J4	ELOV6_HUMAN	ELOVL fatty acid elongase 6	163					fatty acid elongation, saturated fatty acid|long-chain fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process		fatty acid elongase activity|protein binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	8				OV - Ovarian serous cystadenocarcinoma(123;0.00462)		TGAACCAACCTCCCCCGGCAA	0.517													3	53					0	0	1	0	0	C	110972803	T	C	110972803	2	2	85	1	0	0	0	0	0	0	0	1	5106	1538	54	3		3	ELOVL6	4	110972803	Silent	SNP	T	TCGA-EJ-7789-01A-11D-2114-08		110972803	80181473	9	4752											
DNAH5	1767	broad.mit.edu	37	chr5	13700941	13700941	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacttcattgcaaagcaccaTattgtccagagcccagcctt	11	10	7	13	0	1	1	1	0	0	1	2	2	2	1	4	0	4	2	4	0	2	5			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr5:13700941T>C	ENST00000265104.4	-	78	13635	c.13531A>G	c.(13531-13533)Atg>Gtg	p.M4511V		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4511					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAAAGCACCATATTGTCCAGA	0.463									Kartagener syndrome				138	70					0	0	1	0	0	C	13700941	T	C	13700941	3	2	85	1	0	0	0	0	1	0	0	0	4632	1406	49	3	351	3	DNAH5	5	13700941	Missense_Mutation	SNP	T	TCGA-EJ-7789-01A-11D-2114-08		13700941	167214319	10	4753											
ADRA1B	147	broad.mit.edu	37	chr5	159344742	159344742	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagggccacaaccccaggaGttccatagctgtcaaacttt	12	8	8	13	0	1	0	1	0	0	0	2	1	2	1	4	2	3	2	4	2	4	3			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr5:159344742G>A	ENST00000306675.3	+	1	953	c.830G>A	c.(829-831)aGt>aAt	p.S277N		NM_000679.3	NP_000670.1	P35368	ADA1B_HUMAN	adrenoceptor alpha 1B	277					cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)	AACCCCAGGAGTTCCATAGCT	0.502													3	118					0	0	1	0	0	A	159344742	G	A	159344742	3	1	85	1	0	0	0	0	1	0	0	0	334	1029	36	2	832	2	ADRA1B	5	159344742	Missense_Mutation	SNP	G	TCGA-EJ-7789-01A-11D-2114-08	145643801	159344742	21570518	11	4754											
SYCP2L	221711	broad.mit.edu	37	chr6	10928671	10928671	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccgttcggggtccctgacttCccgcaacaacctgtgagtac	7	9	10	15	3	0	2	0	2	0	0	3	2	2	2	4	2	3	3	4	2	3	3			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr6:10928671C>T	ENST00000283141.6	+	18	1772	c.1476C>T	c.(1474-1476)ttC>ttT	p.F492F	RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	492						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			tccctgacttcccgcaacaAC	0.498													24	25					0	0	1	0	0	T	10928671	C	T	10928671	2	4	85	1	0	0	0	0	0	0	0	1	15490	854	30	2		2	SYCP2L	6	10928671	Silent	SNP	C	TCGA-EJ-7789-01A-11D-2114-08		10928671	160186396	12	4755											
HLA-DRA	3122	broad.mit.edu	37	chr6	32411650	32411650	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcatcatcaagggattgcGcaaaagcaatgcagcagaac	15	7	9	10	1	3	1	3	0	0	1	3	2	3	2	0	1	5	4	0	1	5	2			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr6:32411650G>A	ENST00000395388.2	+	4	837	c.728G>A	c.(727-729)cGc>cAc	p.R243H	HLA-DRA_ENST00000374982.5_Missense_Mutation_p.R218H	NM_019111.4	NP_061984.2	P01903	DRA_HUMAN	major histocompatibility complex, class II, DR alpha	243					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						AAGGGATTGCGCAAAAGCAAT	0.537									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of				39	46					0	0	1	0	0	A	32411650	G	A	32411650	3	1	85	1	0	0	0	0	1	0	0	0	7248	1087	38	1	742	1	HLA-DRA	6	32411650	Missense_Mutation	SNP	G	TCGA-EJ-7789-01A-11D-2114-08	21482979	32411650	138703417	13	4756											
FTSJD2	0	broad.mit.edu	37	chr6	37426394	37426394	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttgcctttgcagaagccaCtggtgaaggaccgggaagct	10	8	13	10	1	0	2	0	1	0	1	0	4	0	4	3	3	4	2	3	3	3	2			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr6:37426394C>T	ENST00000373451.4	+	9	948	c.784C>T	c.(784-786)Ctg>Ttg	p.L262L		NM_015050.2	NP_055865.1	Q8N1G2	MTR1_HUMAN		262					mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2)	31						GCAGAAGCCACTGGTGAAGGA	0.522													13	22					0	0	1	0	0	T	37426394	C	T	37426394	2	4	85	1	0	0	0	0	0	0	0	1	6126	564	20	2		2	FTSJD2	6	37426394	Silent	SNP	C	TCGA-EJ-7789-01A-11D-2114-08	5014744	37426394	133688673	14	4757											
SDK1	221935	broad.mit.edu	37	chr7	3990593	3990593	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaccatggccccaaccattGtggttcccccgggcaacaga	11	6	9	15	1	0	1	0	0	0	1	1	1	1	1	6	3	3	2	6	3	3	2			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr7:3990593G>T	ENST00000404826.2	+	6	1025	c.886G>T	c.(886-888)Gtg>Ttg	p.V296L	SDK1_ENST00000389531.3_Missense_Mutation_p.V296L	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	296	Ig-like C2-type 3.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCCAACCATTGTGGTTCCCCC	0.552													30	49					2.42023e-17	3.10286e-17	1	1	0	T	3990593	G	T	3990593	3	4	85	1	0	0	0	0	1	0	0	0	14022	1377	48	4	908	4	SDK1	7	3990593	Missense_Mutation	SNP	G	TCGA-EJ-7789-01A-11D-2114-08		3990593	155148070	15	4758											
POM121L12	285877	broad.mit.edu	37	chr7	53104151	53104151	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtccagcccgccccatccGccatctgggacttctgggag	5	8	12	16	2	2	0	0	0	2	0	4	2	4	2	6	3	1	0	6	3	0	1			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr7:53104151G>A	ENST00000408890.4	+	1	803	c.787G>A	c.(787-789)Gcc>Acc	p.A263T		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	263										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CGCCCCATCCGCCATCTGGGA	0.662													53	34					0	0	1	0	0	A	53104151	G	A	53104151	3	1	85	1	0	0	0	0	1	0	0	0	12289	1087	38	1	789	1	POM121L12	7	53104151	Missense_Mutation	SNP	G	TCGA-EJ-7789-01A-11D-2114-08	49113558	53104151	106034512	16	4759											
KRIT1	889	broad.mit.edu	37	chr7	91870306	91870306	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttaaaaaagaagtttcctaCctctgataccctggtttgca	12	14	6	9	0	1	2	0	1	1	1	2	2	2	2	3	1	3	3	3	1	6	6			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr7:91870306C>T	ENST00000394507.1	-	6	1046		c.e6+1		KRIT1_ENST00000412043.2_Splice_Site|KRIT1_ENST00000340022.2_Splice_Site|KRIT1_ENST00000394505.2_Splice_Site|KRIT1_ENST00000394503.2_Splice_Site	NM_194456.1	NP_919438.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing						angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AAGTTTCCTACCTCTGATACC	0.318													28	67					0	0	1	0	0	T	91870306	C	T	91870306	5	4	85	1	0	0	0	0	0	0	1	0	8488	521	18	2	2007	2	KRIT1	7	91870306	Splice_Site	SNP	C	TCGA-EJ-7789-01A-11D-2114-08	38766155	91870306	67268357	17	4760											
TAS2R38	5726	broad.mit.edu	37	chr7	141672537	141672537	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcggctcttaccttcaggCtgctctgagcccagagcaga	7	9	12	13	1	3	3	1	1	2	2	4	3	3	3	2	3	4	4	2	3	1	2			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr7:141672537C>G	ENST00000547270.1	-	1	1036	c.953G>C	c.(952-954)aGc>aCc	p.S318T		NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	318					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					TACCTTCAGGCTGCTCTGAGC	0.507													8	86					0	0	1	0	0	G	141672537	C	G	141672537	3	3	85	1	0	0	0	0	1	0	0	0	15632	797	28	4	52	4	TAS2R38	7	141672537	Missense_Mutation	SNP	C	TCGA-EJ-7789-01A-11D-2114-08	49802231	141672537	17466126	18	4761											
SSPO	23145	broad.mit.edu	37	chr7	149527482	149527483	+	RNA	INS	-	-	C																															tcagtcacctcctcctctgtINSccccccccacagtcccctca																										TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr7:149527482_149527483insC	ENST00000378016.2	+	0	15142							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			tcctcctctgtccccccccaca	0.634													2	4	---	---	---	---						C	149527483	-	C	149527482	6	5	85	0	1	1	1	0	0	0	0	0	15245	1682	58	0		0	SSPO	7	149527482	RNA	INS	-	TCGA-EJ-7789-01A-11D-2114-08	7854945	149527482	9611181	19	4762											
EPPK1	83481	broad.mit.edu	37	chr8	144945742	144945743	+	In_Frame_Ins	INS	-	-	AAGGTGACCCTG																															cggtgtccctcagcccagaaINSaaggtgaccctggcagtggc																										TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	6ec93e5e-92dc-4e51-95f2-a74eee00cf98	g.chr8:144945742_144945743insAAGGTGACCCTG	ENST00000525985.1	-	2	1750_1751	c.1679_1680insCAGGGTCACCTT	c.(1678-1680)ttc>tCAGGGTCACCTTtc	p.559_560insSGSP				P58107	EPIPL_HUMAN	epiplakin 1	559						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCAGCCCAGAAAAGGTGACCCT	0.639													9	20	---	---	---	---						AAGGTGACCCTG	144945743	-	AAGGTGACCCTG	144945742	7	5	85	1	0	1	1	0	0	0	0	0	5218	11	1	0	5586	0	EPPK1	8	144945742	In_Frame_Ins	INS	-	TCGA-EJ-7789-01A-11D-2114-08		144945742	1418280	20	4763											
KIF24	347240	broad.mit.edu	37	chr9	34255095	34255095	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagccagctggctcatcagcGtctcctccttgaagccgagc	8	8	10	15	2	3	1	2	1	1	0	5	2	4	1	4	1	5	2	4	1	2	1			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr9:34255095G>A	ENST00000379166.2	-	12	4060	c.3941C>T	c.(3940-3942)aCg>aTg	p.T1314M	KIF24_ENST00000379174.3_Missense_Mutation_p.T1180M|KIF24_ENST00000345050.2_Missense_Mutation_p.T1180M|KIF24_ENST00000402558.2_Missense_Mutation_p.T1314M	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	kinesin family member 24	1314					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			GCTCATCAGCGTCTCCTCCTT	0.527													3	15					0	0	1	0	0	A	34255095	G	A	34255095	3	1	85	1	0	0	0	0	1	0	0	0	8334	1145	40	1	173	1	KIF24	9	34255095	Missense_Mutation	SNP	G	TCGA-EJ-7789-01A-11D-2114-08		34255095	106958336	21	4764											
EXD3	54932	broad.mit.edu	37	chr9	140267454	140267454	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agatgctggccagtggtgccGcaaggctgggggggctctca	6	7	18	10	1	1	1	1	0	1	1	2	1	1	1	2	6	2	4	2	6	1	0			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr9:140267454G>A	ENST00000340951.4	-	5	560	c.365C>T	c.(364-366)gCg>gTg	p.A122V	EXD3_ENST00000479452.1_Missense_Mutation_p.A122V|EXD3_ENST00000475006.1_5'UTR|EXD3_ENST00000342129.4_5'UTR	NM_017820.3	NP_060290.3	Q8N9H8	MUT7_HUMAN	exonuclease 3'-5' domain containing 3	122					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						CAGTGGTGCCGCAAGGCTGGG	0.637													5	129					0	0	1	0	0	A	140267454	G	A	140267454	3	1	85	1	0	0	0	0	1	0	0	0	5326	1087	38	1	2337	1	EXD3	9	140267454	Missense_Mutation	SNP	G	TCGA-EJ-7789-01A-11D-2114-08	106012359	140267454	945977	22	4765											
PYROXD2	84795	broad.mit.edu	37	chr10	100150769	100150769	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgtggtgtgcctcttaccaTtgatcttggtgacaggcgac	7	13	12	9	1	2	2	0	2	2	0	2	3	2	2	2	3	2	0	2	3	1	3			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr10:100150769T>C	ENST00000370575.4	-	11	1181	c.1133A>G	c.(1132-1134)aAt>aGt	p.N378S	PYROXD2_ENST00000483923.1_5'UTR	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	378							oxidoreductase activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						CCTCTTACCATTGATCTTGGT	0.547													10	166					0	0	1	0	0	C	100150769	T	C	100150769	3	2	85	1	0	0	0	0	1	0	0	0	12919	1493	52	3	636	3	PYROXD2	10	100150769	Missense_Mutation	SNP	T	TCGA-EJ-7789-01A-11D-2114-08		100150769	35383978	23	4766											
NAV2	89797	broad.mit.edu	37	chr11	19735327	19735327	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccatcctgcacgtgccccCggcccgggcgggcccccagc	3	3	13	22	4	0	0	0	0	0	0	1	0	1	0	7	3	3	1	7	3	0	0			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr11:19735327C>A	ENST00000396085.1	+	1	447	c.86C>A	c.(85-87)cCg>cAg	p.P29Q	NAV2_ENST00000349880.4_Missense_Mutation_p.P29Q|NAV2_ENST00000396087.3_Missense_Mutation_p.P29Q|NAV2_ENST00000360655.4_Intron	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	29						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CACGTgcccccggcccgggcg	0.657													9	16					0.000274275	0.000311676	1	1	0	A	19735327	C	A	19735327	3	1	85	1	0	0	0	0	1	0	0	0	10232	652	23	4	167	4	NAV2	11	19735327	Missense_Mutation	SNP	C	TCGA-EJ-7789-01A-11D-2114-08		19735327	115271189	24	4767											
FNBP4	23360	broad.mit.edu	37	chr11	47758292	47758292	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgaattttcagcaccaattGctgtaaaaaaaacatgtaaa	18	11	5	7	0	1	1	1	1	0	0	1	1	1	1	1	0	3	4	1	0	8	5			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr11:47758292G>C	ENST00000263773.5	-	9	1469	c.1456_splice	c.e9-1	p.A486_splice	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	486										NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						AGCACCAATTGCTGTAAAAAA	0.303													3	0					0	0	1	0	0	C	47758292	G	C	47758292	5	2	85	1	0	0	0	0	0	0	1	0	6000	1333	46	4	1632	4	FNBP4	11	47758292	Splice_Site	SNP	G	TCGA-EJ-7789-01A-11D-2114-08	28022965	47758292	87248224	25	4768											
SSH3	54961	broad.mit.edu	37	chr11	67079329	67079329	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtgagacaggccagcgtgCatgacagtggagaggagggc	10	5	19	7	1	0	3	0	2	0	2	0	6	0	4	1	5	2	1	1	5	0	0			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr11:67079329C>T	ENST00000308127.4	+	14	2129	c.1951C>T	c.(1951-1953)Cat>Tat	p.H651Y	SSH3_ENST00000376757.5_3'UTR|SSH3_ENST00000308298.7_Missense_Mutation_p.H386Y	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	651					regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GGCCAGCGTGCATGACAGTGG	0.637													37	47					0	0	1	0	0	T	67079329	C	T	67079329	3	4	85	1	0	0	0	0	1	0	0	0	15242	710	25	2	2005	2	SSH3	11	67079329	Missense_Mutation	SNP	C	TCGA-EJ-7789-01A-11D-2114-08	19321037	67079329	67927187	26	4769											
FOXA1	3169	broad.mit.edu	37	chr14	38061229	38061229	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caagtagcagccgttctcgaAcatgttgccggagtccgggt	8	9	13	11	4	1	0	0	0	1	0	3	2	2	1	3	2	4	4	3	2	3	3			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr14:38061229A>C	ENST00000250448.2	-	2	821	c.760T>G	c.(760-762)Ttc>Gtc	p.F254V	FOXA1_ENST00000540786.1_Missense_Mutation_p.F221V|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	254					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		CCGTTCTCGAACATGTTGCCG	0.692													10	16					0	0	1	0	0	C	38061229	A	C	38061229	3	2	85	1	0	0	0	0	1	0	0	0	6022	43	2	5	662	5	FOXA1	14	38061229	Missense_Mutation	SNP	A	TCGA-EJ-7789-01A-11D-2114-08		38061229	69288311	27	4770											
APBA2	321	broad.mit.edu	37	chr15	29393810	29393810	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcccgacaggaaaccatGatggaccacgccttgcgtac	10	6	9	16	3	0	1	0	1	0	0	1	4	1	3	5	2	3	1	5	2	2	2			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr15:29393810G>T	ENST00000558402.1	+	11	1946	c.1347G>T	c.(1345-1347)atG>atT	p.M449I	APBA2_ENST00000558259.1_Missense_Mutation_p.M449I|APBA2_ENST00000411764.1_Missense_Mutation_p.M437I|APBA2_ENST00000561069.1_Missense_Mutation_p.M449I|APBA2_ENST00000558330.1_Missense_Mutation_p.M437I			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	449	PID.				nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		AGGAAACCATGATGGACCACG	0.577													3	26					1	1	1	1	0	T	29393810	G	T	29393810	3	4	85	1	0	0	0	0	1	0	0	0	753	1290	45	4	1373	4	APBA2	15	29393810	Missense_Mutation	SNP	G	TCGA-EJ-7789-01A-11D-2114-08		29393810	73137582	28	4771											
INO80	54617	broad.mit.edu	37	chr15	41272519	41272519	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaggttcttgggattcccagGaacattatttcccttgctca	8	14	9	10	0	2	0	1	0	1	0	4	3	4	2	2	3	2	2	2	3	2	6			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr15:41272519G>T	ENST00000361937.3	-	36	4997	c.4573C>A	c.(4573-4575)Cct>Act	p.P1525T	INO80_ENST00000401393.3_Missense_Mutation_p.P1525T			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1525	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GGATTCCCAGGAACATTATTT	0.557													29	43					5.61819e-17	6.85145e-17	1	1	0	T	41272519	G	T	41272519	3	4	85	1	0	0	0	0	1	0	0	0	7790	1174	41	4	101	4	INO80	15	41272519	Missense_Mutation	SNP	G	TCGA-EJ-7789-01A-11D-2114-08	11878709	41272519	61258873	29	4772											
LCMT2	9836	broad.mit.edu	37	chr15	43620821	43620821	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatctgatactcagagctcaAtcctgtagtcaaattgatca	14	12	6	9	0	5	3	4	2	1	1	6	3	6	3	1	0	2	2	1	0	5	3			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr15:43620821A>G	ENST00000305641.5	-	1	1982	c.1867T>C	c.(1867-1869)Ttg>Ctg	p.L623L	LCMT2_ENST00000567039.1_3'UTR|LCMT2_ENST00000544735.1_Silent_p.L202L	NM_014793.4	NP_055608.2	O60294	LCMT2_HUMAN	leucine carboxyl methyltransferase 2	623					tRNA processing		methyltransferase activity|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	TCAGAGCTCAATCCTGTAGTC	0.443													42	34					0	0	1	0	0	G	43620821	A	G	43620821	2	3	85	1	0	0	0	0	0	0	0	1	8718	98	4	3		3	LCMT2	15	43620821	Silent	SNP	A	TCGA-EJ-7789-01A-11D-2114-08	2348302	43620821	58910571	30	4773											
VPS33B	26276	broad.mit.edu	37	chr15	91549633	91549633	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgagtagcaccttcaggCtcttgtcagaggatgtgact	9	12	11	9	0	3	3	2	2	1	1	3	4	3	4	1	2	1	3	1	2	1	4			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr15:91549633C>A	ENST00000333371.3	-	11	1174	c.821G>T	c.(820-822)aGc>aTc	p.S274I	VPS33B_ENST00000535843.1_Missense_Mutation_p.S183I|VPS33B_ENST00000535906.1_Missense_Mutation_p.S247I	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)	274					cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					CACCTTCAGGCTCTTGTCAGA	0.562													4	106					1	1	1	1	0	A	91549633	C	A	91549633	3	1	85	1	0	0	0	0	1	0	0	0	17262	797	28	4	1084	4	VPS33B	15	91549633	Missense_Mutation	SNP	C	TCGA-EJ-7789-01A-11D-2114-08	47928812	91549633	10981759	31	4774											
ACSM2B	348158	broad.mit.edu	37	chr16	20570613	20570613	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggcactcggggcagcaTcactgccacacgatccccac	9	5	9	18	2	2	0	2	0	0	0	4	1	3	0	3	3	2	3	3	3	0	0			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	6ec93e5e-92dc-4e51-95f2-a74eee00cf98	g.chr16:20570613T>C	ENST00000329697.6	-	3	502	c.334A>G	c.(334-336)Atg>Gtg	p.M112V	ACSM2B_ENST00000414188.2_Missense_Mutation_p.M112V|ACSM2B_ENST00000567001.1_Missense_Mutation_p.M112V|ACSM2B_ENST00000565232.1_Missense_Mutation_p.M112V|ACSM2B_ENST00000565322.1_Missense_Mutation_p.M33V	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	112					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CGGGGCAGCATCACTGCCACA	0.552													3	19					0	0	1	0	0	C	20570613	T	C	20570613	3	2	85	1	0	0	0	0	1	0	0	0	184	1435	50	3	1447	3	ACSM2B	16	20570613	Missense_Mutation	SNP	T	TCGA-EJ-7789-01A-11D-2114-08		20570613	69784140	32	4775											
CSNK2A2	1459	broad.mit.edu	37	chr16	58198010	58198010	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagaccactggaaagcacagCattgtctgcacaaggctggg	12	6	13	10	0	1	1	0	0	1	1	1	3	1	2	1	3	3	4	1	3	2	1			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr16:58198010C>A	ENST00000262506.3	-	11	1201	c.1018G>T	c.(1018-1020)Gct>Tct	p.A340S	CSNK2A2_ENST00000566813.1_5'UTR	NM_001896.2	NP_001887.1	P19784	CSK22_HUMAN	casein kinase 2, alpha prime polypeptide	340					axon guidance|Wnt receptor signaling pathway	cytosol|nucleus	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			central_nervous_system(1)	1						GAAAGCACAGCATTGTCTGCA	0.527													3	40					1	1	1	1	0	A	58198010	C	A	58198010	3	1	85	1	0	0	0	0	1	0	0	0	3983	710	25	4	38	4	CSNK2A2	16	58198010	Missense_Mutation	SNP	C	TCGA-EJ-7789-01A-11D-2114-08	37627397	58198010	32156743	33	4776											
C16orf3	750	broad.mit.edu	37	chr16	90095609	90095609	+	Missense_Mutation	SNP	C	C	T																															gcaggctatggggcagcctaCggggcaggctacggggcagg																								rs76322535		TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr16:90095609C>T	ENST00000408886.2	-	1	700	c.142G>A	c.(142-144)Gta>Ata	p.V48I	GAS8_ENST00000540721.1_Intron|GAS8_ENST00000536122.1_Intron|GAS8_ENST00000268699.4_Intron	NM_001214.3	NP_001205.3	O95177	CP003_HUMAN	chromosome 16 open reading frame 3	48			Missing (in short isoform).							large_intestine(1)|lung(2)|prostate(1)	4		all_cancers(9;9.01e-08)|Hepatocellular(780;0.000325)|Lung NSC(15;0.0104)|all_lung(18;0.0239)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		gggcagcctacggggcaggct	0.672													3	8					0	0	1	0	0	T	90095609	C	T	90095609	3	4	85	1	0	0	0	0	1	0	0	0	1819	536	19	1	215	1	C16orf3	16	90095609	Missense_Mutation	SNP	C	TCGA-EJ-7789-01A-11D-2114-08	31897599	90095609	259144	34	4777	23	2									
C16orf3	750	broad.mit.edu	37	chr16	90095617	90095617	+	Missense_Mutation	SNP	G	G	C																															tggggcagcctacggggcagGctacggggcaggcccttgca																										TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr16:90095617G>C	ENST00000408886.2	-	1	692	c.134C>G	c.(133-135)gCc>gGc	p.A45G	GAS8_ENST00000540721.1_Intron|GAS8_ENST00000536122.1_Intron|GAS8_ENST00000268699.4_Intron	NM_001214.3	NP_001205.3	O95177	CP003_HUMAN	chromosome 16 open reading frame 3	45										large_intestine(1)|lung(2)|prostate(1)	4		all_cancers(9;9.01e-08)|Hepatocellular(780;0.000325)|Lung NSC(15;0.0104)|all_lung(18;0.0239)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		tacggggcaggctacggggca	0.677													3	9					0	0	1	0	0	C	90095617	G	C	90095617	3	2	85	1	0	0	0	0	1	0	0	0	1819	1203	42	4	223	4	C16orf3	16	90095617	Missense_Mutation	SNP	G	TCGA-EJ-7789-01A-11D-2114-08	8	90095617	259136	35	4778	23	2									
NETO1	81832	broad.mit.edu	37	chr18	70461444	70461444	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cataatttgtatagactccaCaattccttcggaaccgccca	12	11	5	13	2	0	1	0	0	0	1	3	2	2	2	4	1	1	1	4	1	5	6			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr18:70461444C>A	ENST00000327305.6	-	6	1204	c.547G>T	c.(547-549)Gtg>Ttg	p.V183L	NETO1_ENST00000299430.2_Missense_Mutation_p.V182L|NETO1_ENST00000583169.1_Missense_Mutation_p.V183L	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	183	CUB 2.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		ATAGACTCCACAATTCCTTCG	0.433													3	58					1	1	1	1	0	A	70461444	C	A	70461444	3	1	85	1	0	0	0	0	1	0	0	0	10386	478	17	4	1074	4	NETO1	18	70461444	Missense_Mutation	SNP	C	TCGA-EJ-7789-01A-11D-2114-08		70461444	7615804	36	4779											
MUC16	94025	broad.mit.edu	37	chr19	9057080	9057080	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccttggatggctccgagtgGattgaaacagaggaatatag	12	9	14	6	1	0	2	0	1	0	1	1	6	1	5	2	4	1	1	2	4	4	4			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr19:9057080G>T	ENST00000397910.4	-	3	30569	c.30366C>A	c.(30364-30366)atC>atA	p.I10122I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10124	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCTCCGAGTGGATTGAAACAG	0.463													15	32					2.62699e-14	3.12737e-14	1	1	0	T	9057080	G	T	9057080	2	4	85	1	0	0	0	0	0	0	0	1	10021	1164	41	4		4	MUC16	19	9057080	Silent	SNP	G	TCGA-EJ-7789-01A-11D-2114-08		9057080	50071903	37	4780											
ZNF439	90594	broad.mit.edu	37	chr19	11978582	11978582	+	Frame_Shift_Del	DEL	A	A	-																															cagtttatatcttatccatgAaagaactcacactggagaga																										TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr19:11978582delA	ENST00000304030.2	+	3	898	c.698delA	c.(697-699)gafs	p.E233fs	ZNF439_ENST00000592534.1_Intron|ZNF439_ENST00000455282.1_Frame_Shift_Del_p.E97fs	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						CTTATCCATGAAAGAACTCAC	0.373													46	53	---	---	---	---						-	11978582	A	-	11978582	7	5	85	1	0	1	0	1	0	0	0	0	17968	246	9	0	708	0	ZNF439	19	11978582	Frame_Shift_Del	DEL	A	TCGA-EJ-7789-01A-11D-2114-08	2921502	11978582	47150401	38	4781											
NOTCH3	4854	broad.mit.edu	37	chr19	15276765	15276765	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgccagtacggtcagtccGtgccccaagctgagccccct	6	7	10	18	3	1	1	1	1	0	0	3	1	2	1	6	1	4	2	6	1	2	1			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr19:15276765G>A	ENST00000263388.2	-	30	5575	c.5500C>T	c.(5500-5502)Cgg>Tgg	p.R1834W		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1834					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CGGTCAGTCCGTGCCCCAAGC	0.612													17	17					0	0	1	0	0	A	15276765	G	A	15276765	3	1	85	1	0	0	0	0	1	0	0	0	10597	1144	40	1	1481	1	NOTCH3	19	15276765	Missense_Mutation	SNP	G	TCGA-EJ-7789-01A-11D-2114-08	3298183	15276765	43852218	39	4782											
TGFB1	7040	broad.mit.edu	37	chr19	41858655	41858655	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggcgtagtagtcggcctcagGctcgggctccggttctgcac	4	9	15	13	4	2	0	1	0	1	0	5	0	3	0	2	5	1	6	2	5	2	3			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr19:41858655G>T	ENST00000221930.5	-	1	1161	c.295C>A	c.(295-297)Cct>Act	p.P99T	TMEM91_ENST00000539627.1_Intron	NM_000660.4	NP_000651.3	P01137	TGFB1_HUMAN	transforming growth factor, beta 1	99					active induction of host immune response by virus|ATP biosynthetic process|cell cycle arrest|cell growth|cell-cell junction organization|chondrocyte differentiation|connective tissue replacement involved in inflammatory response wound healing|epidermal growth factor receptor signaling pathway|evasion of host defenses by virus|hemopoietic progenitor cell differentiation|induction of apoptosis|lymph node development|mitotic cell cycle G1/S transition checkpoint|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of cell-cell adhesion|negative regulation of DNA replication|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|negative regulation of macrophage cytokine production|negative regulation of mitotic cell cycle|negative regulation of protein phosphorylation|ossification involved in bone remodeling|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of collagen biosynthetic process|positive regulation of epithelial to mesenchymal transition|positive regulation of fibroblast migration|positive regulation of interleukin-17 production|positive regulation of isotype switching to IgA isotypes|positive regulation of MAP kinase activity|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein dephosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|protein export from nucleus|protein import into nucleus, translocation|receptor catabolic process|regulation of DNA binding|regulation of striated muscle tissue development|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|response to estradiol stimulus|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway|viral infectious cycle	extracellular space|Golgi lumen|nucleus|platelet alpha granule lumen|proteinaceous extracellular matrix	growth factor activity|type II transforming growth factor beta receptor binding			endometrium(1)|large_intestine(2)|lung(4)|skin(1)	8					Hyaluronidase(DB00070)	TCGGCCTCAGGCTCGGGCTCC	0.731											OREG0025483	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	24					1.99824e-07	2.32353e-07	1	1	0	T	41858655	G	T	41858655	3	4	85	1	0	0	0	0	1	0	0	0	15876	1203	42	4	905	4	TGFB1	19	41858655	Missense_Mutation	SNP	G	TCGA-EJ-7789-01A-11D-2114-08	26581890	41858655	17270328	40	4783											
ZNF226	7769	broad.mit.edu	37	chr19	44681615	44681616	+	Frame_Shift_Del	DEL	AA	AA	-																															acaaatgtgatgtgtgtggtAaagtcttcagtcggtcttca																										TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr19:44681615_44681616delAA	ENST00000590089.1	+	7	2567_2568	c.2200_2201delAA	c.(2200-2202)afs	p.K734fs	ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000454662.2_Frame_Shift_Del_p.K734fs|ZNF226_ENST00000337433.5_Frame_Shift_Del_p.K734fs			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	734					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				TGTGTGTGGTAAAGTCTTCAGT	0.45													38	99	---	---	---	---						-	44681616	AA	-	44681615	7	5	85	1	0	1	0	1	0	0	0	0	17838	363	13	0	2268	0	ZNF226	19	44681615	Frame_Shift_Del	DEL	AA	TCGA-EJ-7789-01A-11D-2114-08	2822960	44681615	14447368	41	4784											
ACTR5	79913	broad.mit.edu	37	chr20	37400382	37400382	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccatccgcctgccgaagcagGcctcccgctcctcagatgcc	6	6	9	20	3	1	1	1	0	0	1	4	2	4	1	8	1	3	2	8	1	1	0			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chr20:37400382G>A	ENST00000243903.4	+	9	1784	c.1747G>A	c.(1747-1749)Gcc>Acc	p.A583T		NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)	583					DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair	cytoplasm|Ino80 complex	ATP binding|protein binding			kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				GCCGAAGCAGGCCTCCCGCTC	0.587													19	13					0	0	1	0	0	A	37400382	G	A	37400382	3	1	85	1	0	0	0	0	1	0	0	0	214	1203	42	2	1781	2	ACTR5	20	37400382	Missense_Mutation	SNP	G	TCGA-EJ-7789-01A-11D-2114-08		37400382	25625138	42	4785											
CCT8	10694	broad.mit.edu	37	chr21	30440001	30440001	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcatatgagaagccattacaAtcatttttgcagcaggatgc	13	11	9	8	0	1	1	1	1	0	1	1	3	1	2	1	1	5	3	1	1	4	4			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	6ec93e5e-92dc-4e51-95f2-a74eee00cf98	g.chr21:30440001A>G	ENST00000286788.4	-	4	463	c.257T>C	c.(256-258)aTt>aCt	p.I86T	CCT8_ENST00000540844.1_Missense_Mutation_p.I13T|CCT8_ENST00000470450.1_5'UTR|CCT8_ENST00000542732.1_Missense_Mutation_p.I67T	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)	86					'de novo' posttranslational protein folding	aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center	ATP binding|ATPase activity, coupled|unfolded protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						AGCCATTACAATCATTTTTGC	0.368													5	87					0	0	1	0	0	G	30440001	A	G	30440001	3	3	85	1	0	0	0	0	1	0	0	0	2982	101	4	3	1437	3	CCT8	21	30440001	Missense_Mutation	SNP	A	TCGA-EJ-7789-01A-11D-2114-08		30440001	17689894	43	4786											
SRPX	8406	broad.mit.edu	37	chrX	38016273	38016273	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgttctgacacccacattgAcgttcatggctgtaatcaga	10	11	8	12	2	3	3	2	2	1	1	3	3	3	3	2	1	0	4	2	1	1	4			TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chrX:38016273A>T	ENST00000378533.3	-	8	1071	c.965T>A	c.(964-966)gTc>gAc	p.V322D	SRPX_ENST00000544439.1_Missense_Mutation_p.V302D|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000343800.6_Missense_Mutation_p.V309D|SRPX_ENST00000538295.1_Missense_Mutation_p.V322D|SRPX_ENST00000432886.2_Missense_Mutation_p.V263D|SRPX_ENST00000479015.1_5'UTR	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	322					cell adhesion	cell surface|membrane				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						ACCCACATTGACGTTCATGGC	0.478													7	30					0	0	1	0	0	T	38016273	A	T	38016273	3	4	85	1	0	0	0	0	1	0	0	0	15220	275	10	5	441	5	SRPX	23	38016273	Missense_Mutation	SNP	A	TCGA-EJ-7789-01A-11D-2114-08		38016273	117254287	44	4787											
FAM120C	54954	broad.mit.edu	37	chrX	54209302	54209303	+	In_Frame_Ins	INS	-	-	GGCGGC																															gggccccgggcagctgagggINSggcggcggcggcggcagcgg																										TCGA-EJ-7789-01A-11D-2114-08	TCGA-EJ-7789-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d415be01-5bb2-4be0-9a02-9c70e461faa3	316e21f4-9c3d-41d4-aafd-5fb3c3743ba2	g.chrX:54209302_54209303insGGCGGC	ENST00000375180.2	-	1	385_386	c.329_330insGCCGCC	c.(328-330)ccc>cGCCGCCcc	p.109_110insRR	FAM120C_ENST00000328235.4_In_Frame_Ins_p.109_110insRR|FAM120C_ENST00000477084.1_In_Frame_Ins_p.109_110insRR	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	109										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GCAGCTGAGGGGGCGGCGGCGG	0.748													4	2	---	---	---	---						GGCGGC	54209303	-	GGCGGC	54209302	7	5	85	1	0	1	1	0	0	0	0	0	5449	1219	43	0	3046	0	FAM120C	23	54209302	In_Frame_Ins	INS	-	TCGA-EJ-7789-01A-11D-2114-08	16193029	54209302	101061258	45	4788											
HTR1D	3352	broad.mit.edu	37	chr1	23520101	23520101	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	accgagggaatgtagaaggcCccacaggtggagtagatggt	12	6	16	7	1	0	2	0	0	0	2	0	5	0	4	3	5	0	2	3	5	4	2			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr1:23520101C>T	ENST00000374619.1	-	1	1121	c.612G>A	c.(610-612)ggG>ggA	p.G204G	HTR1D_ENST00000314113.3_Silent_p.G204G	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	204					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	TGTAGAAGGCCCCACAGGTGG	0.592													3	59					0	0	0.115264	0	0	T	23520101	C	T	23520101	2	4	86	1	0	0	0	0	0	0	0	1	7482	610	22	2		2	HTR1D	1	23520101	Silent	SNP	C	TCGA-EJ-7791-01A-11D-2114-08		23520101	225730520	1	4789											
RXRG	6258	broad.mit.edu	37	chr1	165370516	165370516	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggctcaggtgatctgcagcGgggtctccaacatctccatg	7	9	13	12	1	4	1	1	1	3	0	6	1	4	1	2	4	3	2	2	4	1	0			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr1:165370516G>A	ENST00000359842.5	-	10	1678	c.1376C>T	c.(1375-1377)cCg>cTg	p.P459L		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	459	Ligand-binding (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	GATCTGCAGCGGGGTCTCCAA	0.607													9	161					0	0	0.335167	0	0	A	165370516	G	A	165370516	3	1	86	1	0	0	0	0	1	0	0	0	13817	1116	39	1	19	1	RXRG	1	165370516	Missense_Mutation	SNP	G	TCGA-EJ-7791-01A-11D-2114-08	141850415	165370516	83880105	2	4790											
B3GALT2	8707	broad.mit.edu	37	chr1	193150383	193150383	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtaactccttgtggtgacaGgtctgtgttattagagttag	8	16	12	5	0	1	2	0	1	1	1	2	2	2	2	1	2	1	3	1	2	4	5			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr1:193150383G>C	ENST00000367434.4	-	2	1065	c.310C>G	c.(310-312)Ctg>Gtg	p.L104V	CDC73_ENST00000367435.3_Intron	NM_003783.3	NP_003774.1	O43825	B3GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2	104					protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	16						TGTGGTGACAGGTCTGTGTTA	0.418													12	94					0	0	0.435327	0	0	C	193150383	G	C	193150383	3	2	86	1	0	0	0	0	1	0	0	0	1246	991	35	4	962	4	B3GALT2	1	193150383	Missense_Mutation	SNP	G	TCGA-EJ-7791-01A-11D-2114-08	27779867	193150383	56100238	3	4791											
GDF7	151449	broad.mit.edu	37	chr2	20870506	20870507	+	Frame_Shift_Ins	INS	-	-	C																															cgccaccgtcgtgaaccgcgINSccccccccgcgcgttctgcc																										TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr2:20870506_20870507insC	ENST00000272224.3	+	2	1250_1251	c.674_675insC	c.(673-675)cccfs	p.P225fs		NM_182828.2	NP_878248.2	Q7Z4P5	GDF7_HUMAN	growth differentiation factor 7	225					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|cervix(1)|endometrium(2)|lung(1)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGTGAACCGCGCCCCCCCCGCG	0.752													2	4	---	---	---	---						C	20870507	-	C	20870506	7	5	86	1	0	1	1	0	0	0	0	0	6360	1087	38	0	680	0	GDF7	2	20870506	Frame_Shift_Ins	INS	-	TCGA-EJ-7791-01A-11D-2114-08		20870506	222328867	4	4792											
HSPD1	3329	broad.mit.edu	37	chr2	198353198	198353198	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttttcattcacttcaacAtcacttgtcccaccaaccta	10	15	1	15	0	5	0	4	0	1	0	6	0	6	0	3	0	2	0	3	0	3	7			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr2:198353198A>G	ENST00000388968.3	-	10	1500	c.1233T>C	c.(1231-1233)gaT>gaC	p.D411D	HSPD1_ENST00000345042.2_Silent_p.D411D	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	411					'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			TCACTTCAACATCACTTGTCC	0.413													8	112					0	0	0.307466	0	0	G	198353198	A	G	198353198	2	3	86	1	0	0	0	0	0	0	0	1	7472	214	8	3		3	HSPD1	2	198353198	Silent	SNP	A	TCGA-EJ-7791-01A-11D-2114-08	177482692	198353198	44846175	5	4793											
SCN10A	6336	broad.mit.edu	37	chr3	38835295	38835295	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgatcagttctgctgggagCtcaccatagaacttgggcag	9	9	12	11	1	3	1	2	0	1	1	3	3	3	2	2	2	3	4	2	2	2	3			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr3:38835295C>T	ENST00000449082.2	-	1	206	c.207G>A	c.(205-207)gaG>gaA	p.E69E		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	69					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CTGCTGGGAGCTCACCATAGA	0.552													19	177					0	0	0.539581	0	0	T	38835295	C	T	38835295	2	4	86	1	0	0	0	0	0	0	0	1	13966	796	28	2		2	SCN10A	3	38835295	Silent	SNP	C	TCGA-EJ-7791-01A-11D-2114-08		38835295	159187135	6	4794											
TBCCD1	55171	broad.mit.edu	37	chr3	186276229	186276229	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attatgacaattagatttttCagtcaggtcaggagactgag	13	13	10	5	0	3	4	3	2	0	2	3	5	3	4	0	2	0	0	0	2	3	4			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr3:186276229C>T	ENST00000424280.1	-	3	948	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K	TBCCD1_ENST00000446782.1_Missense_Mutation_p.E61K|TBCCD1_ENST00000338733.5_Missense_Mutation_p.E157K	NM_001134415.1	NP_001127887.1	Q9NVR7	TBCC1_HUMAN	TBCC domain containing 1	157					cell morphogenesis|maintenance of centrosome location|maintenance of Golgi location|regulation of cell migration|regulation of cell shape	spindle pole centrosome	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		TTAGATTTTTCAGTCAGGTCA	0.383													13	140					0	0	0.500413	0	0	T	186276229	C	T	186276229	3	4	86	1	0	0	0	0	1	0	0	0	15692	835	29	2	1224	2	TBCCD1	3	186276229	Missense_Mutation	SNP	C	TCGA-EJ-7791-01A-11D-2114-08	147440934	186276229	11746201	7	4795											
AASDH	132949	broad.mit.edu	37	chr4	57244445	57244445	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agatccatgtgttcttctgcTttttcttcattgacatgctc	6	19	6	10	0	4	2	1	1	3	1	6	2	5	2	1	0	2	3	1	0	0	6			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr4:57244445T>G	ENST00000205214.6	-	4	717	c.537A>C	c.(535-537)aaA>aaC	p.K179N	AASDH_ENST00000434343.2_Intron|AASDH_ENST00000502617.1_Missense_Mutation_p.K179N|AASDH_ENST00000602986.1_Missense_Mutation_p.K26N|AASDH_ENST00000451613.1_Missense_Mutation_p.K179N|AASDH_ENST00000510762.1_5'UTR|AASDH_ENST00000513376.1_Missense_Mutation_p.K79N	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	179					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				GTTCTTCTGCTTTTTCTTCAT	0.368													4	58					0	0	0.150653	0	0	G	57244445	T	G	57244445	3	3	86	1	0	0	0	0	1	0	0	0	22	1606	56	5	2807	5	AASDH	4	57244445	Missense_Mutation	SNP	T	TCGA-EJ-7791-01A-11D-2114-08		57244445	133909831	8	4796											
NPY2R	4887	broad.mit.edu	37	chr4	156136067	156136067	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgccaatccccttctctatGgctggatgaacagcaactac	10	11	7	13	0	1	1	0	1	1	0	3	2	2	2	3	2	5	2	3	2	5	4			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr4:156136067G>T	ENST00000329476.3	+	2	1465	c.976G>T	c.(976-978)Ggc>Tgc	p.G326C	NPY2R_ENST00000506608.1_Missense_Mutation_p.G326C	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	326					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				CCTTCTCTATGGCTGGATGAA	0.522													13	111					2.27111e-07	2.76792e-07	0.411799	1	0	T	156136067	G	T	156136067	3	4	86	1	0	0	0	0	1	0	0	0	10657	1348	47	4	978	4	NPY2R	4	156136067	Missense_Mutation	SNP	G	TCGA-EJ-7791-01A-11D-2114-08	98891622	156136067	35018209	9	4797											
HCRTR2	3062	broad.mit.edu	37	chr6	55128601	55128601	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcttatctgcaaatatttcGcaaactctggtgtcgacagg	10	12	10	9	2	2	0	0	0	2	0	4	1	2	0	0	3	2	3	0	3	4	3			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr6:55128601G>A	ENST00000370862.3	+	4	1079	c.743G>A	c.(742-744)cGc>cAc	p.R248H		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	248					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CAAATATTTCGCAAACTCTGG	0.368													3	27					0	0	0.115264	0	0	A	55128601	G	A	55128601	3	1	86	1	0	0	0	0	1	0	0	0	7043	1087	38	1	757	1	HCRTR2	6	55128601	Missense_Mutation	SNP	G	TCGA-EJ-7791-01A-11D-2114-08		55128601	115986466	10	4798											
CREB5	9586	broad.mit.edu	37	chr7	28527795	28527795	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttccctctgatccttcagatTtatgaggaatccaagatgaa	12	13	7	9	0	2	5	1	3	1	2	5	6	5	6	3	1	0	0	3	1	4	4			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr7:28527795T>C	ENST00000357727.2	+	2	396	c.6T>C	c.(4-6)atT>atC	p.I2I	CREB5_ENST00000396299.2_Intron|CREB5_ENST00000396300.2_5'UTR	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	2					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						TCCTTCAGATTTATGAGGAAT	0.507													4	94					0	0	0.184627	0	0	C	28527795	T	C	28527795	2	2	86	1	0	0	0	0	0	0	0	1	3883	1829	64	3		3	CREB5	7	28527795	Silent	SNP	T	TCGA-EJ-7791-01A-11D-2114-08		28527795	130610868	11	4799											
CLCN1	1180	broad.mit.edu	37	chr7	143013473	143013473	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcaggcccccgccacaacgtCcaccccacacaggtaaagtg	11	3	9	18	2	0	0	0	0	0	0	1	0	1	0	6	2	1	2	6	2	3	1			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr7:143013473C>A	ENST00000343257.2	+	1	255	c.168C>A	c.(166-168)gtC>gtA	p.V56V		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	56					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GCCACAACGTCCACCCCACAC	0.577													5	65					0.00448238	0.00499465	0.307466	1	0	A	143013473	C	A	143013473	2	1	86	1	0	0	0	0	0	0	0	1	3485	842	30	4		4	CLCN1	7	143013473	Silent	SNP	C	TCGA-EJ-7791-01A-11D-2114-08	114485678	143013473	16125190	12	4800											
UBR5	51366	broad.mit.edu	37	chr8	103298847	103298847	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcaggaacactgcttgctccTaaaatttttatttttaaaac	13	15	5	8	0	0	0	0	0	0	0	1	1	1	1	1	1	4	3	1	1	6	8			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr8:103298847T>C	ENST00000520539.1	-	38	5564		c.e38-2		UBR5_ENST00000220959.4_Splice_Site|UBR5_ENST00000521922.1_Splice_Site	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5						cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TGCTTGCTCCTAAAATTTTTA	0.333													2	14					0	0	0.115264	0	0	C	103298847	T	C	103298847	5	2	86	1	0	0	0	0	0	0	1	0	16966	1536	53	3	3531	3	UBR5	8	103298847	Splice_Site	SNP	T	TCGA-EJ-7791-01A-11D-2114-08		103298847	43065175	13	4801											
DDX31	64794	broad.mit.edu	37	chr9	135537842	135537842	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacctgtggagttctggaaTgtcagggttgtttttaaaca	10	15	11	5	0	2	0	1	0	1	0	2	2	2	2	1	3	2	3	1	3	4	6			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr9:135537842T>C	ENST00000372159.3	-	2	782	c.631A>G	c.(631-633)Att>Gtt	p.I211V	DDX31_ENST00000544003.1_Missense_Mutation_p.I115V|DDX31_ENST00000438527.3_Missense_Mutation_p.I82V|DDX31_ENST00000372153.1_Missense_Mutation_p.I211V|DDX31_ENST00000480876.1_5'UTR|DDX31_ENST00000310532.2_Missense_Mutation_p.I211V	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	211						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		AGTTCTGGAATGTCAGGGTTG	0.428													14	73					0	0	0.479597	0	0	C	135537842	T	C	135537842	3	2	86	1	0	0	0	0	1	0	0	0	4379	1464	51	3	2007	3	DDX31	9	135537842	Missense_Mutation	SNP	T	TCGA-EJ-7791-01A-11D-2114-08		135537842	5675589	14	4802											
PTEN	5728	broad.mit.edu	37	chr10	89720811	89720812	+	Frame_Shift_Ins	INS	-	-	A																															tatctagtacttactttaacINSaaaaaatgatcttgacaaag																								rs121913291		TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr10:89720811_89720812insA	ENST00000371953.3	+	8	2319_2320	c.962_963insA	c.(961-963)aaafs	p.K321fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	321	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.T321fs*23(9)|p.T321fs*3(7)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.N323fs*2(2)|p.T319_K332del(1)|p.T321fs*22(1)|p.G165_*404del(1)|p.L316fs*1(1)|p.W274_F341del(1)|p.V317_K322del(1)|p.T321fs*6(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CTTACTTTAACAAAAAATGATC	0.327	N323fs*2(MFE319_ENDOMETRIUM)|N323fs*2(RL952_ENDOMETRIUM)|N323fs*2(SKUT1_SOFT_TISSUE)	31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			15	108	---	---	---	---						A	89720812	-	A	89720811	7	5	86	1	0	1	1	0	0	0	0	0	12787	478	17	0	992	0	PTEN	10	89720811	Frame_Shift_Ins	INS	-	TCGA-EJ-7791-01A-11D-2114-08		89720811	45813936	15	4803											
NAALAD2	10003	broad.mit.edu	37	chr11	89880613	89880613	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagccaagttggttcattatGatgtcctcttatcttacccc	8	15	6	12	0	3	1	1	1	2	0	4	1	4	1	4	1	2	2	4	1	4	5			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr11:89880613G>A	ENST00000534061.1	+	3	540	c.310G>A	c.(310-312)Gat>Aat	p.D104N	NAALAD2_ENST00000375944.3_Missense_Mutation_p.D104N|NAALAD2_ENST00000321955.4_Missense_Mutation_p.D104N|NAALAD2_ENST00000525171.1_Missense_Mutation_p.D104N	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	104					proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GGTTCATTATGATGTCCTCTT	0.373													4	60					0	0	0.184627	0	0	A	89880613	G	A	89880613	3	1	86	1	0	0	0	0	1	0	0	0	10176	1290	45	2	320	2	NAALAD2	11	89880613	Missense_Mutation	SNP	G	TCGA-EJ-7791-01A-11D-2114-08		89880613	45125903	16	4804											
CD163	9332	broad.mit.edu	37	chr12	7640092	7640092	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctgaccatttccttttccaAaacgtgctcctcctggggta	7	14	7	13	1	1	1	0	1	1	0	5	1	5	1	5	2	2	2	5	2	3	4			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr12:7640092A>C	ENST00000359156.4	-	8	2115	c.1913T>G	c.(1912-1914)tTt>tGt	p.F638C	CD163_ENST00000396620.3_Missense_Mutation_p.F671C|CD163_ENST00000432237.2_Missense_Mutation_p.F638C|CD163_ENST00000541972.1_Missense_Mutation_p.F626C	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	638	SRCR 6.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TCCTTTTCCAAAACGTGCTCC	0.488													11	103					0	0	0.361761	0	0	C	7640092	A	C	7640092	3	2	86	1	0	0	0	0	1	0	0	0	2989	14	1	5	1593	5	CD163	12	7640092	Missense_Mutation	SNP	A	TCGA-EJ-7791-01A-11D-2114-08		7640092	126211803	17	4805											
TM9SF1	10548	broad.mit.edu	37	chr14	24661453	24661453	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccggtagaagtggctggaCacgtagccagagatgcagca	11	6	15	9	2	0	2	0	0	0	2	0	4	0	3	2	3	4	5	2	3	3	2			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr14:24661453C>T	ENST00000556387.1	-	8	1737	c.1704G>A	c.(1702-1704)gtG>gtA	p.V568V	TM9SF1_ENST00000396854.4_Silent_p.V359V|TM9SF1_ENST00000524835.1_Silent_p.V272V|TM9SF1_ENST00000261789.4_Silent_p.V359V|TM9SF1_ENST00000530611.1_Silent_p.V568V|TM9SF1_ENST00000528669.1_Silent_p.V359V			O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1	359					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		AGTGGCTGGACACGTAGCCAG	0.547													11	156					0	0	0.361761	0	0	T	24661453	C	T	24661453	2	4	86	1	0	0	0	0	0	0	0	1	16037	465	17	2		2	TM9SF1	14	24661453	Silent	SNP	C	TCGA-EJ-7791-01A-11D-2114-08		24661453	82688087	18	4806											
ZNF770	54989	broad.mit.edu	37	chr15	35274087	35274087	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgttcatgtctttttaagtGagctgactgtctaaaagatt	10	17	8	6	0	3	3	1	2	2	1	3	3	3	3	0	0	1	2	0	0	3	6			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr15:35274087G>C	ENST00000356321.4	-	3	1893	c.1549C>G	c.(1549-1551)Cac>Gac	p.H517D		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	517					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		CTTTTTAAGTGAGCTGACTGT	0.343													3	50					0	0	0.115264	0	0	C	35274087	G	C	35274087	3	2	86	1	0	0	0	0	1	0	0	0	18193	1290	45	4	530	4	ZNF770	15	35274087	Missense_Mutation	SNP	G	TCGA-EJ-7791-01A-11D-2114-08		35274087	67257305	19	4807											
LTK	4058	broad.mit.edu	37	chr15	41804906	41804906	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acctccgccgtgcacttacaGatactggccagggcccggca	8	6	11	16	3	0	1	0	0	0	1	1	1	1	1	5	3	3	2	5	3	2	2			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr15:41804906G>A	ENST00000263800.6	-	3	454	c.359_splice	c.e3+1	p.L120_splice	LTK_ENST00000453182.2_Splice_Site_p.L120_splice|LTK_ENST00000355166.5_Splice_Site_p.L120_splice|LTK_ENST00000561619.1_Intron	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	120					apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		TGCACTTACAGATACTGGCCA	0.667										TSP Lung(18;0.14)			4	16					0	0	0.150653	0	0	A	41804906	G	A	41804906	5	1	86	1	0	0	0	0	0	0	1	0	9125	956	33	2	2308	2	LTK	15	41804906	Splice_Site	SNP	G	TCGA-EJ-7791-01A-11D-2114-08	6530819	41804906	60726486	20	4808											
FANCA	2175	broad.mit.edu	37	chr16	89813241	89813241	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgagggagcatctcacccTgaagaagtgggcagtgatgt	10	8	15	8	0	1	4	1	3	1	1	2	5	1	5	1	2	1	3	1	2	2	0			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr16:89813241T>C	ENST00000389301.3	-	34	3436	c.3406A>G	c.(3406-3408)Agg>Ggg	p.R1136G	FANCA_ENST00000568369.1_Missense_Mutation_p.R1136G	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	1136					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		CATCTCACCCTGAAGAAGTGG	0.547			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				2	5					0	0	0.115264	0	0	C	89813241	T	C	89813241	3	2	86	1	0	0	0	0	1	0	0	0	5695	1579	55	3	1001	3	FANCA	16	89813241	Missense_Mutation	SNP	T	TCGA-EJ-7791-01A-11D-2114-08		89813241	541512	21	4809											
NWD1	284434	broad.mit.edu	37	chr19	16861005	16861005	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caaggaggacgctgagcccgGtgcacacagatttgctctgg	9	7	14	11	2	1	2	0	1	1	1	1	4	1	4	1	4	3	3	1	4	1	1			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr19:16861005G>C	ENST00000524140.2	+	6	1970	c.1552G>C	c.(1552-1554)Gtg>Ctg	p.V518L	NWD1_ENST00000549814.1_Missense_Mutation_p.V518L|NWD1_ENST00000379808.3_Missense_Mutation_p.V518L|NWD1_ENST00000552788.1_Missense_Mutation_p.V518L|NWD1_ENST00000523826.1_Missense_Mutation_p.V312L|NWD1_ENST00000339803.6_Missense_Mutation_p.V383L	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	518	NACHT.						ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GCTGAGCCCGGTGCACACAGA	0.632													4	101					0	0	0.150653	0	0	C	16861005	G	C	16861005	3	2	86	1	0	0	0	0	1	0	0	0	10829	1261	44	4	1153	4	NWD1	19	16861005	Missense_Mutation	SNP	G	TCGA-EJ-7791-01A-11D-2114-08		16861005	42267978	22	4810											
KLHL26	55295	broad.mit.edu	37	chr19	18778497	18778497	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgttcaccggcggcatgcGggaggcaagccaggacgtca	9	5	15	12	4	2	0	2	0	0	0	2	2	2	2	2	5	2	3	2	5	1	1			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chr19:18778497G>A	ENST00000300976.4	+	3	380	c.290G>A	c.(289-291)cGg>cAg	p.R97Q	KLHL26_ENST00000599006.1_Missense_Mutation_p.R97Q|KLHL26_ENST00000596843.1_3'UTR	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	97	BTB.									breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						GGCGGCATGCGGGAGGCAAGC	0.642													6	132					0	0	0.248553	0	0	A	18778497	G	A	18778497	3	1	86	1	0	0	0	0	1	0	0	0	8424	1116	39	1	300	1	KLHL26	19	18778497	Missense_Mutation	SNP	G	TCGA-EJ-7791-01A-11D-2114-08	1917492	18778497	40350486	23	4811											
L1CAM	3897	broad.mit.edu	37	chrX	153135088	153135088	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggatcagggcgccacgcTgaatccggtacttctggtct	7	10	12	12	3	4	1	2	1	2	0	5	2	5	2	2	4	1	2	2	4	2	2			TCGA-EJ-7791-01A-11D-2114-08	TCGA-EJ-7791-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d32f41fb-0744-4a62-81f6-0260c4920049	9ac76378-8ea0-4911-b4f2-043db4179a44	g.chrX:153135088T>C	ENST00000370060.1	-	11	1343	c.1154A>G	c.(1153-1155)cAg>cGg	p.Q385R	L1CAM_ENST00000361699.4_Missense_Mutation_p.Q385R|L1CAM_ENST00000543994.1_Missense_Mutation_p.Q387R|L1CAM_ENST00000538883.1_Missense_Mutation_p.Q387R|L1CAM_ENST00000361981.3_Missense_Mutation_p.Q380R|L1CAM_ENST00000370057.3_Missense_Mutation_p.Q385R|L1CAM_ENST00000370055.1_Missense_Mutation_p.Q380R	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	385	Ig-like C2-type 4.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCGCCACGCTGAATCCGGTA	0.632													3	9					0	0	0.115264	0	0	C	153135088	T	C	153135088	3	2	86	1	0	0	0	0	1	0	0	0	8627	1580	55	3	2695	3	L1CAM	23	153135088	Missense_Mutation	SNP	T	TCGA-EJ-7791-01A-11D-2114-08		153135088	2135472	24	4812											
RNF207	388591	broad.mit.edu	37	chr1	6270283	6270283	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggcagcccccctcccccagCcaatacgaagagaaggacaa	14	2	9	16	1	0	1	0	0	0	1	1	4	1	2	6	2	3	1	6	2	5	1			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr1:6270283C>G	ENST00000377939.4	+	9	928	c.800_splice	c.e9-1	p.S267_splice	RNF207_ENST00000377948.2_Splice_Site_p.S40_splice	NM_207396.2	NP_997279.2	Q6ZRF8	RN207_HUMAN	ring finger protein 207	267						intracellular	zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2)	16	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		CCTCCCCCAGCCAATACGAAG	0.667													16	44					0	0	0.038395	0	0	G	6270283	C	G	6270283	5	3	87	1	0	0	0	0	0	0	1	0	13526	753	26	4	831	4	RNF207	1	6270283	Splice_Site	SNP	C	TCGA-EJ-7792-01A-11D-2114-08		6270283	242980338	1	4813											
ZNF197	10168	broad.mit.edu	37	chr3	44684197	44684197	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcattctgaagaagagcctCattctgcaccagagaatcca	13	10	7	11	0	4	4	2	1	2	3	5	5	5	4	3	0	2	1	3	0	3	3			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr3:44684197C>T	ENST00000396058.1	+	5	1742	c.1575C>T	c.(1573-1575)ctC>ctT	p.L525L	ZNF197_ENST00000383744.4_Intron|ZNF197_ENST00000383745.2_Intron|RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000344387.4_Silent_p.L525L			O14709	ZN197_HUMAN	zinc finger protein 197	525					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		AGAAGAGCCTCATTCTGCACC	0.423													17	101					0	0	0.038395	0	0	T	44684197	C	T	44684197	2	4	87	1	0	0	0	0	0	0	0	1	17817	813	29	2		2	ZNF197	3	44684197	Silent	SNP	C	TCGA-EJ-7792-01A-11D-2114-08		44684197	153338233	2	4814											
QARS	5859	broad.mit.edu	37	chr3	49140801	49140801	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtccacttcattcttgaTcattttgccatctgcccact	7	16	4	14	0	4	1	2	1	2	0	5	1	5	1	3	0	2	0	3	0	0	5			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr3:49140801T>C	ENST00000306125.6	-	5	830	c.493A>G	c.(493-495)Atc>Gtc	p.I165V	QARS_ENST00000414533.1_Missense_Mutation_p.I154V|QARS_ENST00000420147.2_Missense_Mutation_p.I183V			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	165					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	TCATTCTTGATCATTTTGCCA	0.507													14	84					0	0	0.043863	0	0	C	49140801	T	C	49140801	3	2	87	1	0	0	0	0	1	0	0	0	12923	1435	50	3	1914	3	QARS	3	49140801	Missense_Mutation	SNP	T	TCGA-EJ-7792-01A-11D-2114-08	4456604	49140801	148881629	3	4815											
NOP16	51491	broad.mit.edu	37	chr5	175815433	175815433	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccggaaccccagccccctcaCcattcgatccgcggcgctgc	6	5	9	21	5	1	0	1	0	0	0	3	2	2	1	7	2	3	1	7	2	1	1			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr5:175815433C>G	ENST00000389158.5	-	1	543		c.e1+1		NOP16_ENST00000510123.1_Splice_Site|NOP16_ENST00000509257.1_Splice_Site|NOP16_ENST00000507413.1_Splice_Site			Q9Y3C1	NOP16_HUMAN	NOP16 nucleolar protein							nucleolus				central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	8						AGCCCCCTCACCATTCGATCC	0.642													20	88					0	0	0.062417	0	0	G	175815433	C	G	175815433	5	3	87	1	0	0	0	0	0	0	1	0	10584	521	18	4	447	4	NOP16	5	175815433	Splice_Site	SNP	C	TCGA-EJ-7792-01A-11D-2114-08		175815433	5099827	4	4816											
HDGFL1	154150	broad.mit.edu	37	chr6	22570346	22570347	+	In_Frame_Ins	INS	-	-	GGC																															agggcggcggaagcggagagINSggcggcggcggcggcggcgg																										TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	1ea92c16-9376-49ef-9a3a-8a7f75a9eb1c	g.chr6:22570346_22570347insGGC	ENST00000510882.2	+	1	552_553	c.542_543insGGC	c.(541-543)agc>aGGCgc	p.181_181S>RR	HDGFL1_ENST00000230012.3_In_Frame_Ins_p.181_181S>RR			Q5TGJ6	HDGL1_HUMAN	hepatoma derived growth factor-like 1	181	Ala-rich.|Glu-rich.									kidney(1)|large_intestine(3)|lung(7)	11	Ovarian(93;0.163)					gaagcggagagggcggcggcgg	0.767													4	2	---	---	---	---						GGC	22570347	-	GGC	22570346	7	5	87	1	0	1	1	0	0	0	0	0	7060	1000	35	0	544	0	HDGFL1	6	22570346	In_Frame_Ins	INS	-	TCGA-EJ-7792-01A-11D-2114-08		22570346	148544721	5	4817											
COL12A1	1303	broad.mit.edu	37	chr6	75860932	75860932	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtgactcaaaatctgccaCattgtatgcatgggtatcat	12	12	9	8	0	3	1	2	1	1	0	3	2	3	1	1	1	2	3	1	1	4	3			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr6:75860932C>T	ENST00000322507.8	-	21	4381	c.4072G>A	c.(4072-4074)Gtg>Atg	p.V1358M	COL12A1_ENST00000416123.2_Missense_Mutation_p.V1358M|COL12A1_ENST00000345356.6_Missense_Mutation_p.V194M|COL12A1_ENST00000483888.2_Missense_Mutation_p.V1358M	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1358	VWFA 3.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AAATCTGCCACATTGTATGCA	0.363													25	82					0	0	0.034045	0	0	T	75860932	C	T	75860932	3	4	87	1	0	0	0	0	1	0	0	0	3692	478	17	2	5303	2	COL12A1	6	75860932	Missense_Mutation	SNP	C	TCGA-EJ-7792-01A-11D-2114-08	53290586	75860932	95254135	6	4818											
XKR5	389610	broad.mit.edu	37	chr8	6673270	6673270	+	RNA	DEL	A	A	-																															ctaccctttgagcccattgtAaaaaaaaaaaatacgttggg																										TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	1ea92c16-9376-49ef-9a3a-8a7f75a9eb1c	g.chr8:6673270delA	ENST00000518724.1	-	0	1071							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		AGCCCATTGTAAAAAAAAAAA	0.502											OREG0018511	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	4	---	---	---	---						-	6673270	A	-	6673270	6	5	87	0	1	1	0	1	0	0	0	0	17494	377	13	0		0	XKR5	8	6673270	RNA	DEL	A	TCGA-EJ-7792-01A-11D-2114-08		6673270	139690752	7	4819											
RP1	6101	broad.mit.edu	37	chr8	55542393	55542393	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acaaaatcttattgataatgCcattggtgatatatttgatc	14	16	6	5	0	1	3	0	3	1	0	2	3	1	3	1	1	1	0	1	1	6	7			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr8:55542393C>T	ENST00000220676.1	+	4	6099	c.5951C>T	c.(5950-5952)gCc>gTc	p.A1984V		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1984					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ATTGATAATGCCATTGGTGAT	0.308													6	19					0	0	0.021553	0	0	T	55542393	C	T	55542393	3	4	87	1	0	0	0	0	1	0	0	0	13584	739	26	2	5961	2	RP1	8	55542393	Missense_Mutation	SNP	C	TCGA-EJ-7792-01A-11D-2114-08	48869123	55542393	90821629	8	4820											
MLLT3	4300	broad.mit.edu	37	chr9	20448194	20448194	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagcttttcacagcggaggTgattcactggtggatggcct	7	13	13	8	1	2	1	2	1	0	0	2	3	2	3	1	5	2	1	1	5	1	4			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr9:20448194T>C	ENST00000380338.4	-	4	633	c.347A>G	c.(346-348)cAc>cGc	p.H116R	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_Intron|MLLT3_ENST00000429426.2_Missense_Mutation_p.H113R	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	116					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		ACAGCGGAGGTGATTCACTGG	0.438			T	MLL	ALL								25	109					0	0	0.099896	0	0	C	20448194	T	C	20448194	3	2	87	1	0	0	0	0	1	0	0	0	9676	1696	59	3	1391	3	MLLT3	9	20448194	Missense_Mutation	SNP	T	TCGA-EJ-7792-01A-11D-2114-08		20448194	120765237	9	4821											
PTPN3	0	broad.mit.edu	37	chr9	112168897	112168897	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttaggaatgcaggtgtccGcctgggtggtggggaaaagc	8	8	18	7	1	0	0	0	0	0	0	1	2	1	2	2	6	2	2	2	6	4	1			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr9:112168897G>A	ENST00000412145.1	-	13	3797	c.1242_splice	c.e13-1	p.A415_splice	PTPN3_ENST00000446349.1_Splice_Site_p.A370_splice|PTPN3_ENST00000394827.3_Splice_Site_p.A14_splice|PTPN3_ENST00000374541.2_Splice_Site_p.A546_splice|PTPN3_ENST00000262539.3_Splice_Site_p.A392_splice	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	546					negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GCAGGTGTCCGCCTGGGTGGT	0.527													23	92					0	0	0.076483	0	0	A	112168897	G	A	112168897	5	1	87	1	0	0	0	0	0	0	1	0	12841	1101	38	1	1140	1	PTPN3	9	112168897	Splice_Site	SNP	G	TCGA-EJ-7792-01A-11D-2114-08	91720703	112168897	29044534	10	4822											
TCN1	6947	broad.mit.edu	37	chr11	59620777	59620777	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgatatagggcccccatgagCgctcctccattgtgaaactg	9	10	10	12	1	0	3	0	3	0	0	2	3	2	3	4	1	2	1	4	1	3	3			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr11:59620777C>T	ENST00000257264.3	-	8	1243	c.1139G>A	c.(1138-1140)cGc>cAc	p.R380H		NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	380					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCCCCATGAGCGCTCCTCCAT	0.458													22	100					0	0	0.055883	0	0	T	59620777	C	T	59620777	3	4	87	1	0	0	0	0	1	0	0	0	15766	768	27	1	170	1	TCN1	11	59620777	Missense_Mutation	SNP	C	TCGA-EJ-7792-01A-11D-2114-08		59620777	75385739	11	4823											
CMKLR1	1240	broad.mit.edu	37	chr12	108686570	108686570	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgatgatcaccagaccattgCccagaatcccgaggaagcag	13	6	10	12	1	1	4	1	2	0	2	2	6	2	5	4	1	2	1	4	1	2	1			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr12:108686570C>T	ENST00000312143.7	-	3	533	c.170G>A	c.(169-171)gGc>gAc	p.G57D	CMKLR1_ENST00000552995.1_Missense_Mutation_p.G55D|CMKLR1_ENST00000412676.1_Missense_Mutation_p.G57D|CMKLR1_ENST00000550402.1_Missense_Mutation_p.G57D|CMKLR1_ENST00000397688.2_Missense_Mutation_p.G55D	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	57					chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						CAGACCATTGCCCAGAATCCC	0.517													7	56					0	0	0.038147	0	0	T	108686570	C	T	108686570	3	4	87	1	0	0	0	0	1	0	0	0	3602	739	26	2	955	2	CMKLR1	12	108686570	Missense_Mutation	SNP	C	TCGA-EJ-7792-01A-11D-2114-08		108686570	25165325	12	4824											
OR11H6	122748	broad.mit.edu	37	chr14	20692287	20692287	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcagttatggcttatgatcGgtacctggccatctgtcgtc	7	14	10	10	2	2	1	1	1	1	0	5	1	2	1	2	3	1	3	2	3	3	3	rs146448571		TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr14:20692287G>A	ENST00000315519.2	+	1	497	c.419G>A	c.(418-420)cGg>cAg	p.R140Q		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R140Q(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		GCTTATGATCGGTACCTGGCC	0.428													6	83					0	0	0.02938	0	0	A	20692287	G	A	20692287	3	1	87	1	0	0	0	0	1	0	0	0	10977	1116	39	1	421	1	OR11H6	14	20692287	Missense_Mutation	SNP	G	TCGA-EJ-7792-01A-11D-2114-08		20692287	86657253	13	4825											
ITPK1	3705	broad.mit.edu	37	chr14	93412807	93412807	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccggatgacctcgtcgctcGgccgctcgaacacgccctcg	5	6	11	19	8	0	1	0	1	0	0	5	3	0	2	4	2	1	2	4	2	1	0			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr14:93412807G>C	ENST00000267615.6	-	10	943	c.770C>G	c.(769-771)cCg>cGg	p.P257R	ITPK1_ENST00000556603.2_Missense_Mutation_p.P257R|ITPK1_ENST00000556954.1_5'UTR|ITPK1_ENST00000354313.3_Missense_Mutation_p.P257R|ITPK1_ENST00000555495.1_Missense_Mutation_p.P138R			Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase	257	ATP-grasp.				blood coagulation|inositol trisphosphate metabolic process|signal transduction	cytosol	ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		CTCGTCGCTCGGCCGCTCGAA	0.627													10	46					0	0	0.069234	0	0	C	93412807	G	C	93412807	3	2	87	1	0	0	0	0	1	0	0	0	7960	1116	39	4	530	4	ITPK1	14	93412807	Missense_Mutation	SNP	G	TCGA-EJ-7792-01A-11D-2114-08	72720520	93412807	13936733	14	4826											
MOAP1	64112	broad.mit.edu	37	chr14	93649656	93649656	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggccatcctctggcagattaAgctctctgcgaattgttttg	7	14	10	10	1	2	1	0	0	2	1	4	2	3	1	2	2	2	3	2	2	2	4			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr14:93649656A>C	ENST00000556883.1	-	2	1416	c.932T>G	c.(931-933)cTt>cGt	p.L311R	MOAP1_ENST00000298894.4_Missense_Mutation_p.L311R			Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1	311					activation of caspase activity|apoptotic nuclear change	cytoplasm	protein homodimerization activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		tggcagattaagctctctgcg	0.517													16	97					0	0	0.038395	0	0	C	93649656	A	C	93649656	3	2	87	1	0	0	0	0	1	0	0	0	9729	72	3	5	127	5	MOAP1	14	93649656	Missense_Mutation	SNP	A	TCGA-EJ-7792-01A-11D-2114-08	236849	93649656	13699884	15	4827											
TRIP10	9322	broad.mit.edu	37	chr19	6743805	6743805	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcagcgcttcaaccgagaCcaagcccacttctatttttc	9	11	6	15	2	2	1	1	0	1	1	3	2	2	1	3	0	4	2	3	0	3	5			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr19:6743805C>T	ENST00000600428.1	+	7	922	c.276C>T	c.(274-276)gaC>gaT	p.D92D	TRIP10_ENST00000313285.8_Silent_p.D200D|TRIP10_ENST00000596758.1_Silent_p.D200D|TRIP10_ENST00000313244.9_Silent_p.D200D			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	200	Induction of membrane tubulation.|Required for podosome formation and interaction with AKAP9 and microtubules.|Required for translocation to the plasma membrane in response to insulin (By similarity).				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						TCAACCGAGACCAAGCCCACT	0.507													19	72					0	0	0.055883	0	0	T	6743805	C	T	6743805	2	4	87	1	0	0	0	0	0	0	0	1	16615	506	18	2		2	TRIP10	19	6743805	Silent	SNP	C	TCGA-EJ-7792-01A-11D-2114-08		6743805	52385178	16	4828											
BACE2	25825	broad.mit.edu	37	chr21	42615330	42615330	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtggaattgaaccaagtttgTataaaggagacatctggtat	14	12	11	4	0	1	2	0	1	1	1	1	4	1	3	1	3	1	3	1	3	7	5			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr21:42615330T>A	ENST00000330333.6	+	5	1238	c.775T>A	c.(775-777)Tat>Aat	p.Y259N	BACE2_ENST00000466122.1_3'UTR|BACE2_ENST00000347667.4_Missense_Mutation_p.Y259N|BACE2_ENST00000328735.6_Missense_Mutation_p.Y259N	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2	259					membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				ACCAAGTTTGTATAAAGGAGA	0.388													8	39					0	0	0.047766	0	0	A	42615330	T	A	42615330	3	1	87	1	0	0	0	0	1	0	0	0	1280	1638	57	5	793	5	BACE2	21	42615330	Missense_Mutation	SNP	T	TCGA-EJ-7792-01A-11D-2114-08		42615330	5514565	17	4829											
DGCR8	54487	broad.mit.edu	37	chr22	20082238	20082238	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcttttttttcatagccCgagctacactggaaatcctc	8	14	7	12	1	2	0	1	0	1	0	4	2	3	1	2	2	3	2	2	2	3	6			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr22:20082238C>T	ENST00000351989.3	+	9	2137	c.1708C>T	c.(1708-1710)Cga>Tga	p.R570*	DGCR8_ENST00000383024.2_Nonsense_Mutation_p.R537*|DGCR8_ENST00000407755.1_Nonsense_Mutation_p.R537*	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	570	DRBM 1.|Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					TTTCATAGCCCGAGCTACACT	0.542													17	89					0	0	0.043863	0	0	T	20082238	C	T	20082238	4	4	87	1	0	0	0	0	0	1	0	0	4492	644	23	1	1738	1	DGCR8	22	20082238	Nonsense_Mutation	SNP	C	TCGA-EJ-7792-01A-11D-2114-08		20082238	31222328	18	4830											
CLCN4	0	broad.mit.edu	37	chrX	10176202	10176202	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgtctcgttctcttttatGtggaataccacacgccctgg	6	13	9	13	3	2	0	0	0	2	0	4	1	2	1	3	2	1	1	3	2	3	4			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chrX:10176202G>A	ENST00000380833.4	+	9	1352	c.961G>A	c.(961-963)Gtg>Atg	p.V321M	CLCN4_ENST00000421085.2_Missense_Mutation_p.V227M|CLCN4_ENST00000380829.1_Missense_Mutation_p.V321M	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	321						early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TCTCTTTTATGTGGAATACCA	0.542													37	60					0	0	0.086207	0	0	A	10176202	G	A	10176202	3	1	87	1	0	0	0	0	1	0	0	0	3488	1377	48	2	987	2	CLCN4	23	10176202	Missense_Mutation	SNP	G	TCGA-EJ-7792-01A-11D-2114-08		10176202	145094358	19	4831											
OR2M3	127062	broad.mit.edu	37	chr1	248366998	248366998	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatagtaatgattgttttccCtgttgcaatcatcattgctt	9	19	6	7	0	2	1	2	1	0	0	3	1	3	1	1	0	2	5	1	0	4	9			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr1:248366998C>T	ENST00000456743.1	+	1	667	c.629C>T	c.(628-630)cCt>cTt	p.P210L		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATTGTTTTCCCTGTTGCAATC	0.418													49	351					0	0	1	0	0	T	248366998	C	T	248366998	3	4	88	1	0	0	0	0	1	0	0	0	11059	681	24	2	631	2	OR2M3	1	248366998	Missense_Mutation	SNP	C	TCGA-EJ-7793-01A-31D-2260-08		248366998	883623	1	4832											
OR2T4	127074	broad.mit.edu	37	chr1	248524908	248524908	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacatcacctggatggccaGccacactggatggtcggatt	10	8	11	12	1	1	0	1	0	0	0	2	3	1	3	3	5	2	0	3	5	1	1	rs140989725		TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr1:248524908G>A	ENST00000366475.1	+	1	26	c.26G>A	c.(25-27)aGc>aAc	p.S9N		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGGATGGCCAGCCACACTGGA	0.483													3	70					0	0	1	0	0	A	248524908	G	A	248524908	3	1	88	1	0	0	0	0	1	0	0	0	11075	971	34	2	28	2	OR2T4	1	248524908	Missense_Mutation	SNP	G	TCGA-EJ-7793-01A-31D-2260-08	157910	248524908	725713	2	4833			1	13		2	2	30	N	G_A	2.248272e-05
OR2T4	127074	broad.mit.edu	37	chr1	248524937	248524937	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggtcggatttcatcctgAtgggactcttcagacaatcc	9	12	10	10	1	3	2	2	1	1	1	6	5	5	4	2	3	0	0	2	3	1	2			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr1:248524937A>T	ENST00000366475.1	+	1	55	c.55A>T	c.(55-57)Atg>Ttg	p.M19L		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTTCATCCTGATGGGACTCTT	0.488													3	84					0	0	1	0	0	T	248524937	A	T	248524937	3	4	88	1	0	0	0	0	1	0	0	0	11075	333	12	5	57	5	OR2T4	1	248524937	Missense_Mutation	SNP	A	TCGA-EJ-7793-01A-31D-2260-08	29	248524937	725684	3	4834			1	13		2	2	30	N	G_A	2.248272e-05
MORC1	27136	broad.mit.edu	37	chr3	108819312	108819312	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaacttcaaggttgacagcCgttttttggatcgtccaaag	10	13	10	8	2	1	2	1	2	0	0	3	3	2	3	2	2	2	2	2	2	3	5			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr3:108819312C>T	ENST00000232603.5	-	5	348	c.266G>A	c.(265-267)cGg>cAg	p.R89Q	MORC1_ENST00000483760.1_Missense_Mutation_p.R89Q	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	89					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						GGTTGACAGCCGTTTTTTGGA	0.398													3	147					0	0	1	0	0	T	108819312	C	T	108819312	3	4	88	1	0	0	0	0	1	0	0	0	9750	652	23	1	2784	1	MORC1	3	108819312	Missense_Mutation	SNP	C	TCGA-EJ-7793-01A-31D-2260-08		108819312	89203118	4	4835											
RNF8	9025	broad.mit.edu	37	chr6	37336290	37336290	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtttggctgaacagagcgCgtctggaacctttaagggtc	8	11	14	8	2	1	2	0	1	1	1	2	3	1	3	1	3	3	2	1	3	3	3			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr6:37336290C>T	ENST00000373479.4	+	3	464	c.271C>T	c.(271-273)Cgt>Tgt	p.R91C	RNF8_ENST00000479516.1_3'UTR|RNF8_ENST00000469731.1_Missense_Mutation_p.R91C	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	91	FHA.				cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						GAACAGAGCGCGTCTGGAACC	0.423													3	139					0	0	1	0	0	T	37336290	C	T	37336290	3	4	88	1	0	0	0	0	1	0	0	0	13552	768	27	1	281	1	RNF8	6	37336290	Missense_Mutation	SNP	C	TCGA-EJ-7793-01A-31D-2260-08		37336290	133778777	5	4836											
COL12A1	1303	broad.mit.edu	37	chr6	75855959	75855959	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctgactacaggcactggCacttccaaaacagaaaagca	16	5	9	11	0	0	2	0	1	0	1	1	2	1	2	1	3	3	4	1	3	5	2			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr6:75855959C>A	ENST00000322507.8	-	24	4728	c.4417_splice	c.e24-1	p.L1473_splice	COL12A1_ENST00000483888.2_Splice_Site_p.L1473_splice|COL12A1_ENST00000345356.6_Splice_Site_p.L309_splice|COL12A1_ENST00000416123.2_Splice_Site_p.L1473_splice	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1473					cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CAGGCACTGGCACTTCCAAAA	0.418													4	26					0.150653	0.159784	1	1	0	A	75855959	C	A	75855959	5	1	88	1	0	0	0	0	0	0	1	0	3692	724	25	4	4944	4	COL12A1	6	75855959	Splice_Site	SNP	C	TCGA-EJ-7793-01A-31D-2260-08	38519669	75855959	95259108	6	4837											
CACNA2D1	781	broad.mit.edu	37	chr7	81591292	81591292	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggtttgttcagtaatgcAgctctgcttggacagggagg	7	12	15	7	0	2	0	1	0	1	0	2	2	2	2	0	4	3	6	0	4	1	4			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr7:81591292A>C	ENST00000356860.3	-	36	3222	c.2884T>G	c.(2884-2886)Tgc>Ggc	p.C962G	CACNA2D1_ENST00000356253.5_Missense_Mutation_p.C974G|CACNA2D1_ENST00000535308.1_Missense_Mutation_p.C174G	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	974						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	TCAGTAATGCAGCTCTGCTTG	0.448													10	57					0	0	1	0	0	C	81591292	A	C	81591292	3	2	88	1	0	0	0	0	1	0	0	0	2566	188	7	5	407	5	CACNA2D1	7	81591292	Missense_Mutation	SNP	A	TCGA-EJ-7793-01A-31D-2260-08		81591292	77547371	7	4838											
RP1L1	94137	broad.mit.edu	37	chr8	10480104	10480104	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcagaccccaacagcctaccTttttcccgctggtcgtgtac	7	11	7	16	2	1	1	1	0	0	1	3	1	2	1	5	1	4	2	5	1	3	4			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr8:10480104T>C	ENST00000382483.3	-	2	831	c.609_splice	c.e2+1	p.K203_splice	RP1L1_ENST00000329335.3_5'UTR	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	203					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		ACAGCCTACCTTTTTCCCGCT	0.483													3	175					0	0	1	0	0	C	10480104	T	C	10480104	5	2	88	1	0	0	0	0	0	0	1	0	13585	1623	56	3	6606	3	RP1L1	8	10480104	Splice_Site	SNP	T	TCGA-EJ-7793-01A-31D-2260-08		10480104	135883918	8	4839											
MMP16	4325	broad.mit.edu	37	chr8	89128877	89128877	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatttttccttgggtcagcCggaggaatagagcggtgtgg	7	12	15	7	2	2	1	2	0	0	1	3	3	3	3	2	5	2	0	2	5	2	4			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr8:89128877C>T	ENST00000286614.6	-	6	1223	c.942G>A	c.(940-942)ccG>ccA	p.P314P	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	314					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	p.P314P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						TTGGGTCAGCCGGAGGAATAG	0.537													22	179					0	0	1	0	0	T	89128877	C	T	89128877	2	4	88	1	0	0	0	0	0	0	0	1	9703	639	23	1		1	MMP16	8	89128877	Silent	SNP	C	TCGA-EJ-7793-01A-31D-2260-08	78648773	89128877	57235145	9	4840											
CDHR1	92211	broad.mit.edu	37	chr10	85972118	85972118	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccccctcagtttggaaagagCgttcagaagaagacgatggt	12	8	12	9	2	2	4	2	0	0	4	2	6	2	5	2	2	1	2	2	2	3	2			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr10:85972118C>T	ENST00000372117.3	+	15	1840	c.1737C>T	c.(1735-1737)agC>agT	p.S579S	CDHR1_ENST00000440770.2_Silent_p.S283S|CDHR1_ENST00000332904.3_Silent_p.S579S	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	579	Cadherin 6.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						TTGGAAAGAGCGTTCAGAAGA	0.517													3	118					0	0	1	0	0	T	85972118	C	T	85972118	2	4	88	1	0	0	0	0	0	0	0	1	3140	767	27	1		1	CDHR1	10	85972118	Silent	SNP	C	TCGA-EJ-7793-01A-31D-2260-08		85972118	49562629	10	4841											
KIF11	3832	broad.mit.edu	37	chr10	94405250	94405250	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggttgaagaatctgtgaaaCactctgataaactcaatggc	14	11	9	7	0	3	4	1	3	2	1	3	4	3	4	0	2	2	1	0	2	6	2			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr10:94405250C>T	ENST00000260731.3	+	18	2488	c.2398C>T	c.(2398-2400)Cac>Tac	p.H800Y		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	800					blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATCTGTGAAACACTCTGATAA	0.353													4	46					0	0	1	0	0	T	94405250	C	T	94405250	3	4	88	1	0	0	0	0	1	0	0	0	8314	478	17	2	2468	2	KIF11	10	94405250	Missense_Mutation	SNP	C	TCGA-EJ-7793-01A-31D-2260-08	8433132	94405250	41129497	11	4842											
ST5	6764	broad.mit.edu	37	chr11	8752316	8752316	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgggcgacgcctctcggCgaccttcccatgctgatatc	5	10	10	16	4	1	1	0	1	1	0	5	3	3	1	4	2	1	1	4	2	1	2			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr11:8752316C>T	ENST00000534127.1	-	6	906	c.521G>A	c.(520-522)cGc>cAc	p.R174H	ST5_ENST00000313726.6_Missense_Mutation_p.R174H|ST5_ENST00000357665.1_Missense_Mutation_p.R174H|ST5_ENST00000526757.1_Intron|ST5_ENST00000530438.1_Intron	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	174					positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		CGCCTCTCGGCGACCTTCCCA	0.706													3	67					0	0	1	0	0	T	8752316	C	T	8752316	3	4	88	1	0	0	0	0	1	0	0	0	15276	768	27	1	2964	1	ST5	11	8752316	Missense_Mutation	SNP	C	TCGA-EJ-7793-01A-31D-2260-08		8752316	126254200	12	4843											
YARS2	51067	broad.mit.edu	37	chr12	32903753	32903753	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctggctctttgacatgcaGctgcatgatatgatcaatct	9	15	8	9	0	4	3	1	3	3	0	4	3	4	3	0	1	3	4	0	1	2	3			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr12:32903753G>A	ENST00000324868.8	-	3	1030	c.1003C>T	c.(1003-1005)Ctg>Ttg	p.L335L		NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	335					tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	TTGACATGCAGCTGCATGATA	0.428													3	74					0	0	1	0	0	A	32903753	G	A	32903753	2	1	88	1	0	0	0	0	0	0	0	1	17528	962	34	2		2	YARS2	12	32903753	Silent	SNP	G	TCGA-EJ-7793-01A-31D-2260-08		32903753	100948142	13	4844											
OR4K14	122740	broad.mit.edu	37	chr14	20482441	20482441	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cattgaaaagtcacccgtcgGttttgcagtttcttcatagc	9	14	8	10	2	3	1	2	1	1	0	4	1	3	1	1	1	2	3	1	1	3	6			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr14:20482441G>C	ENST00000305045.2	-	1	911	c.912C>G	c.(910-912)aaC>aaG	p.N304K		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TCACCCGTCGGTTTTGCAGTT	0.358													5	142					0	0	1	0	0	C	20482441	G	C	20482441	3	2	88	1	0	0	0	0	1	0	0	0	11117	1252	44	4	23	4	OR4K14	14	20482441	Missense_Mutation	SNP	G	TCGA-EJ-7793-01A-31D-2260-08		20482441	86867099	14	4845											
CATSPER2	117155	broad.mit.edu	37	chr15	43924399	43924399	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgccctaactccatacctGcaaactcttgtaacttctta	11	13	3	14	0	2	0	0	0	2	0	3	0	3	0	3	0	6	2	3	0	5	6			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr15:43924399G>C	ENST00000396879.1	-	13	1665	c.1553C>G	c.(1552-1554)gCa>gGa	p.A518G	CATSPER2_ENST00000381761.1_Missense_Mutation_p.A524G|CATSPER2_ENST00000355438.2_3'UTR|STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000354127.4_Missense_Mutation_p.A518G|CATSPER2_ENST00000321596.5_Missense_Mutation_p.A520G			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	520					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		CTCCATACCTGCAAACTCTTG	0.453													3	77					0	0	1	0	0	C	43924399	G	C	43924399	3	2	88	1	0	0	0	0	1	0	0	0	2706	1319	46	4	41	4	CATSPER2	15	43924399	Missense_Mutation	SNP	G	TCGA-EJ-7793-01A-31D-2260-08		43924399	58606993	15	4846											
USP50	373509	broad.mit.edu	37	chr15	50833426	50833426	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagcatctctgagtagaTcctttctcatatgatcttct	8	16	6	11	0	4	3	1	2	4	1	7	3	5	3	1	0	2	3	1	0	2	4			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr15:50833426T>C	ENST00000532404.1	-	4	653	c.480A>G	c.(478-480)ggA>ggG	p.G160G	USP50_ENST00000530218.1_Intron	NM_203494.4	NP_987090.2	E9PP86	E9PP86_HUMAN	ubiquitin specific peptidase 50	160					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(5)	13				all cancers(107;0.000519)|GBM - Glioblastoma multiforme(94;0.00288)		TCTGAGTAGATCCTTTCTCAT	0.393													3	75					0	0	1	0	0	C	50833426	T	C	50833426	2	2	88	1	0	0	0	0	0	0	0	1	17142	1422	50	3		3	USP50	15	50833426	Silent	SNP	T	TCGA-EJ-7793-01A-31D-2260-08	6909027	50833426	51697966	16	4847											
CANT1	124583	broad.mit.edu	37	chr17	76993313	76993313	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgacagggtcaggtagcccTttttcaggtaactgaaccag	10	10	11	10	0	2	2	2	2	0	0	2	2	2	2	2	3	3	2	2	3	3	4			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr17:76993313T>C	ENST00000302345.2	-	2	886	c.392A>G	c.(391-393)aAg>aGg	p.K131R	CANT1_ENST00000392446.5_Missense_Mutation_p.K131R|CANT1_ENST00000591773.1_Missense_Mutation_p.K131R	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	131					positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			CAGGTAGCCCTTTTTCAGGTA	0.577			T	ETV4	prostate								5	377					0	0	1	0	0	C	76993313	T	C	76993313	3	2	88	1	0	0	0	0	1	0	0	0	2635	1609	56	3	825	3	CANT1	17	76993313	Missense_Mutation	SNP	T	TCGA-EJ-7793-01A-31D-2260-08		76993313	4201897	17	4848											
WDR83	84292	broad.mit.edu	37	chr19	12780686	12780686	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggactgcgggcagggggcaGtgcgagccgtacgatttaat	8	8	17	8	4	0	0	0	0	0	0	0	3	0	1	1	4	4	3	1	4	2	3			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr19:12780686G>A	ENST00000418543.3	+	3	431	c.82G>A	c.(82-84)Gtg>Atg	p.V28M	WDR83OS_ENST00000596731.1_5'UTR|WDR83_ENST00000242796.4_Missense_Mutation_p.V28M	NM_001099737.2	NP_001093207.1	Q9BRX9	WDR83_HUMAN	WD repeat domain 83	28					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytoplasm				breast(2)|large_intestine(1)|lung(1)	4						GCAGGGGGCAGTGCGAGCCGT	0.637													3	137					0	0	1	0	0	A	12780686	G	A	12780686	3	1	88	1	0	0	0	0	1	0	0	0	17392	1029	36	2	84	2	WDR83	19	12780686	Missense_Mutation	SNP	G	TCGA-EJ-7793-01A-31D-2260-08		12780686	46348297	18	4849											
SSBP4	170463	broad.mit.edu	37	chr19	18543390	18543390	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccaggagttcgtggcccGtgggccagccccagtggaaa	7	5	16	13	2	0	0	0	0	0	0	1	2	0	2	5	5	1	1	5	5	1	1			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr19:18543390G>A	ENST00000270061.6	+	11	946	c.726G>A	c.(724-726)ccG>ccA	p.P242P	SSBP4_ENST00000348495.5_Silent_p.P220P	NM_032627.4	NP_116016.1	Q9BWG4	SSBP4_HUMAN	single stranded DNA binding protein 4	242	Pro-rich.					nucleus	single-stranded DNA binding			endometrium(2)|kidney(1)|skin(1)	4						TTCGTGGCCCGTGGGCCAGCC	0.667													3	116					0	0	1	0	0	A	18543390	G	A	18543390	2	1	88	1	0	0	0	0	0	0	0	1	15238	1132	40	1		1	SSBP4	19	18543390	Silent	SNP	G	TCGA-EJ-7793-01A-31D-2260-08	5762704	18543390	40585593	19	4850											
PPFIA3	8541	broad.mit.edu	37	chr19	49646094	49646094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctgcctggtatgtggccGcctgccgggccaatgtcaag	5	9	14	13	2	1	0	1	0	0	0	1	0	1	0	6	3	3	1	6	3	3	1			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr19:49646094G>A	ENST00000334186.4	+	21	2927	c.2578G>A	c.(2578-2580)Gcc>Acc	p.A860T	PPFIA3_ENST00000602351.1_Missense_Mutation_p.A860T	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	860	SAM 1.					cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		GTATGTGGCCGCCTGCCGGGC	0.627													3	159					0	0	1	0	0	A	49646094	G	A	49646094	3	1	88	1	0	0	0	0	1	0	0	0	12356	1087	38	1	2656	1	PPFIA3	19	49646094	Missense_Mutation	SNP	G	TCGA-EJ-7793-01A-31D-2260-08	31102704	49646094	9482889	20	4851											
TRPM4	54795	broad.mit.edu	37	chr19	49671826	49671826	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctagggctcgttccctgcgaGgtaccggtggcgcggtgacc	4	8	16	13	5	0	1	0	1	0	0	2	2	1	1	3	5	2	3	3	5	2	3			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr19:49671826G>A	ENST00000252826.5	+	6	755	c.629G>A	c.(628-630)aGg>aAg	p.R210K	TRPM4_ENST00000427978.2_Missense_Mutation_p.R210K|TRPM4_ENST00000355712.5_5'UTR	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	210					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		TTCCCTGCGAGGTACCGGTGG	0.647													3	94					0	0	1	0	0	A	49671826	G	A	49671826	3	1	88	1	0	0	0	0	1	0	0	0	16649	1000	35	2	651	2	TRPM4	19	49671826	Missense_Mutation	SNP	G	TCGA-EJ-7793-01A-31D-2260-08	25732	49671826	9457157	21	4852											
BAGE2	85319	broad.mit.edu	37	chr21	11085495	11085497	+	RNA	DEL	AAA	AAA	-																															ccaccaccaccatcaccactAaaaccacgaccaccaccacc																								rs79040424		TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr21:11085495_11085497delAAA	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)		catcaccactaaaaccacgacca	0.567													3	6	---	---	---	---						-	11085497	AAA	-	11085495	6	5	88	0	1	1	0	1	0	0	0	0	1290	377	13	0		0	BAGE2	21	11085495	RNA	DEL	AAA	TCGA-EJ-7793-01A-31D-2260-08		11085495	37044400	22	4853											
SON	6651	broad.mit.edu	37	chr21	34931659	34931659	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttaaactcagtgaacccAaacctatttttttcaatctg	12	15	3	11	0	3	1	2	1	1	0	3	1	3	1	3	0	3	0	3	0	6	6			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr21:34931659A>C	ENST00000356577.4	+	5	6920	c.6445A>C	c.(6445-6447)Aaa>Caa	p.K2149Q	SON_ENST00000381692.2_Missense_Mutation_p.K177Q|SON_ENST00000290239.6_Missense_Mutation_p.K2149Q|SON_ENST00000300278.4_Missense_Mutation_p.K2149Q	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	2149					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						CAGTGAACCCAAACCTATTTT	0.323													12	95					0	0	1	0	0	C	34931659	A	C	34931659	3	2	88	1	0	0	0	0	1	0	0	0	14980	131	5	5	6463	5	SON	21	34931659	Missense_Mutation	SNP	A	TCGA-EJ-7793-01A-31D-2260-08	23846164	34931659	13198236	23	4854											
TMPRSS2	0	broad.mit.edu	37	chr21	42843813	42843813	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtcataatttggatgagaaAtcactttttctacttggtat	12	17	7	5	0	3	1	2	1	1	1	3	3	3	2	0	2	1	1	0	2	4	7			TCGA-EJ-7793-01A-31D-2260-08	TCGA-EJ-7793-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9667b442-1eb3-4431-bece-f53abb42e5e6	9e145950-4c73-4ca2-a9a7-1e915b9268ec	g.chr21:42843813A>T	ENST00000398585.3	-	10	1166	c.1106T>A	c.(1105-1107)aTt>aAt	p.I369N	TMPRSS2_ENST00000458356.1_Missense_Mutation_p.I332N|TMPRSS2_ENST00000332149.5_Missense_Mutation_p.I332N	NM_001135099.1	NP_001128571.1	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	332	Peptidase S1.				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				TGGATGAGAAATCACTTTTTC	0.458			T	"ERG, ETV1, ETV4, ETV5"	prostate								3	56					0	0	1	0	0	T	42843813	A	T	42843813	3	4	88	1	0	0	0	0	1	0	0	0	16307	101	4	5	503	5	TMPRSS2	21	42843813	Missense_Mutation	SNP	A	TCGA-EJ-7793-01A-31D-2260-08	7912154	42843813	5286082	24	4855											
DPYD	1806	broad.mit.edu	37	chr1	97564055	97564055	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taatttttaccttgatggtaGgaataggccttttggggata	10	16	11	4	0	0	1	0	1	0	0	0	3	0	3	2	5	1	1	2	5	6	10			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr1:97564055G>A	ENST00000370192.3	-	21	2856	c.2756C>T	c.(2755-2757)cCt>cTt	p.P919L	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	919					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	CTTGATGGTAGGAATAGGCCT	0.299													3	121					0	0	1	0	0	A	97564055	G	A	97564055	3	1	89	1	0	0	0	0	1	0	0	0	4771	1000	35	2	333	2	DPYD	1	97564055	Missense_Mutation	SNP	G	TCGA-EJ-7794-01A-11D-2114-08		97564055	151686566	1	4856											
UCK2	7371	broad.mit.edu	37	chr1	165872479	165872479	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gattttatctcagtacattaCgttcgtcaagcctgcctttg	8	16	7	10	2	2	0	2	0	1	0	4	1	2	0	2	0	4	2	2	0	4	6	rs36009659	byFrequency	TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr1:165872479C>A	ENST00000367879.4	+	5	863	c.560C>A	c.(559-561)aCg>aAg	p.T187K	UCK2_ENST00000372212.4_3'UTR|UCK2_ENST00000479872.1_3'UTR	NM_012474.4	NP_036606.2	Q9BZX2	UCK2_HUMAN	uridine-cytidine kinase 2	187					pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					CAGTACATTACGTTCGTCAAG	0.383													3	120					1	1	1	1	0	A	165872479	C	A	165872479	3	1	89	1	0	0	0	0	1	0	0	0	16984	536	19	4	578	4	UCK2	1	165872479	Missense_Mutation	SNP	C	TCGA-EJ-7794-01A-11D-2114-08	68308424	165872479	83378142	2	4857											
KCNH7	90134	broad.mit.edu	37	chr2	163253255	163253255	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagttaacatatacctttgCgctctcatgccttaggttga	10	14	7	10	1	1	1	1	1	1	0	2	1	1	1	2	1	4	3	2	1	4	6			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	beb230fc-309d-4188-850b-011d77acbf13	g.chr2:163253255C>T	ENST00000332142.5	-	11	2707	c.2608G>A	c.(2608-2610)Gca>Aca	p.A870T		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	870					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TATACCTTTGCGCTCTCATGC	0.338													4	33					0	0	1	0	0	T	163253255	C	T	163253255	3	4	89	1	0	0	0	0	1	0	0	0	8081	768	27	1	1006	1	KCNH7	2	163253255	Missense_Mutation	SNP	C	TCGA-EJ-7794-01A-11D-2114-08		163253255	79946118	3	4858											
SCN2A	6326	broad.mit.edu	37	chr2	166229841	166229841	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccactgagagctttgtcccGgtttgaaggaatgagggtaa	10	10	14	7	1	0	3	0	3	0	1	1	5	1	4	2	3	1	3	2	3	3	3	rs121917753		TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr2:166229841G>A	ENST00000375437.2	+	21	4246	c.3956G>A	c.(3955-3957)cGg>cAg	p.R1319Q	SCN2A_ENST00000283256.6_Missense_Mutation_p.R1319Q|SCN2A_ENST00000375427.2_Missense_Mutation_p.R1319Q|SCN2A_ENST00000357398.3_Missense_Mutation_p.R1319Q	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1319			R -> Q (in BFIC3).		myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GCTTTGTCCCGGTTTGAAGGA	0.433													11	52					0	0	1	0	0	A	166229841	G	A	166229841	3	1	89	1	0	0	0	0	1	0	0	0	13970	1116	39	1	4130	1	SCN2A	2	166229841	Missense_Mutation	SNP	G	TCGA-EJ-7794-01A-11D-2114-08	2976586	166229841	76969532	4	4859											
TTN	7273	broad.mit.edu	37	chr2	179637910	179637910	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccttcatcatctttcatcAtatttagaactgtcaattta	11	19	2	9	0	6	1	5	0	1	1	7	1	7	1	1	0	1	0	1	0	5	8			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr2:179637910A>G	ENST00000589042.1	-	33	8005	c.7781T>C	c.(7780-7782)aTg>aCg	p.M2594T	TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.M2594T|TTN_ENST00000460472.2_Missense_Mutation_p.M2548T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.M2594T|TTN_ENST00000342175.6_Missense_Mutation_p.M2548T|TTN_ENST00000342992.6_Missense_Mutation_p.M2594T|TTN_ENST00000359218.5_Missense_Mutation_p.M2548T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2328							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCTTTCATCATATTTAGAAC	0.313													5	54					0	0	1	0	0	G	179637910	A	G	179637910	3	3	89	1	0	0	0	0	1	0	0	0	16797	217	8	3	103527	3	TTN	2	179637910	Missense_Mutation	SNP	A	TCGA-EJ-7794-01A-11D-2114-08	13408069	179637910	63561463	5	4860											
FBLN2	2199	broad.mit.edu	37	chr3	13612699	13612701	+	In_Frame_Del	DEL	GAG	GAG	-																															aggacagtgaggaggaagaaGaggaggaggaggagagagag																										TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr3:13612699_13612701delGAG	ENST00000404922.3	+	2	963_965	c.844_846delGAG	c.(844-846)del	p.E286del	FBLN2_ENST00000492059.1_In_Frame_Del_p.E286del|FBLN2_ENST00000535798.1_In_Frame_Del_p.E312del|FBLN2_ENST00000295760.7_In_Frame_Del_p.E286del	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	286	N.|Subdomain NB (Cys-free).					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			ggaggaagaagaggaggaggagg	0.655													2	4	---	---	---	---						-	13612701	GAG	-	13612699	7	5	89	1	0	1	0	1	0	0	0	0	5732	943	33	0		0	FBLN2	3	13612699	In_Frame_Del	DEL	GAG	TCGA-EJ-7794-01A-11D-2114-08		13612699	184409731	6	4861											
ZBTB47	92999	broad.mit.edu	37	chr3	42700747	42700749	+	In_Frame_Del	DEL	GGA	GGA	-																															gaaggtggtggcagtggacgGgaggaggaggaggaggaaga																										TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr3:42700747_42700749delGGA	ENST00000232974.6	+	2	1181_1183	c.900_902delGGA	c.(898-903)cgg>cg	p.RE300del	ZBTB47_ENST00000457842.3_5'UTR|ZBTB47_ENST00000505904.1_Intron			Q9UFB7	ZBT47_HUMAN	zinc finger and BTB domain containing 47	26					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.216)		gcagtggacgggaggaggaggag	0.626													2	4	---	---	---	---						-	42700749	GGA	-	42700747	7	5	89	1	0	1	0	1	0	0	0	0	17607	1219	43	0	902	0	ZBTB47	3	42700747	In_Frame_Del	DEL	GGA	TCGA-EJ-7794-01A-11D-2114-08	29088048	42700747	155321683	7	4862											
MAEA	10296	broad.mit.edu	37	chr4	1316275	1316275	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgccatgacaacaagtcccGgctccggaagatgaaggtgc	11	6	13	11	2	0	3	0	2	0	1	2	4	2	4	3	3	3	1	3	3	4	0			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr4:1316275G>A	ENST00000303400.4	+	4	626	c.563G>A	c.(562-564)cGg>cAg	p.R188Q	MAEA_ENST00000264750.6_Intron|MAEA_ENST00000514708.1_Intron|MAEA_ENST00000510794.1_Missense_Mutation_p.R187Q|MAEA_ENST00000505839.1_Missense_Mutation_p.R140Q|MAEA_ENST00000505177.2_Missense_Mutation_p.R188Q|MAEA_ENST00000452175.2_Missense_Mutation_p.R109Q	NM_001017405.1	NP_001017405.1	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher	188	CTLH.				cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)			AACAAGTCCCGGCTCCGGAAG	0.652													3	80					0	0	1	0	0	A	1316275	G	A	1316275	3	1	89	1	0	0	0	0	1	0	0	0	9199	1116	39	1	577	1	MAEA	4	1316275	Missense_Mutation	SNP	G	TCGA-EJ-7794-01A-11D-2114-08		1316275	189838001	8	4863											
MAN2A1	4124	broad.mit.edu	37	chr5	109124684	109124684	+	Frame_Shift_Del	DEL	T	T	-																															agataattggaaattctgcaTttcttcttattttgaaggac																										TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr5:109124684delT	ENST00000261483.4	+	11	2862	c.1810delT	c.(1810-1812)ttfs	p.F604fs		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	604					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		AAATTCTGCATTTCTTCTTAT	0.303													15	59	---	---	---	---						-	109124684	T	-	109124684	7	5	89	1	0	1	0	1	0	0	0	0	9264	1493	52	0	1852	0	MAN2A1	5	109124684	Frame_Shift_Del	DEL	T	TCGA-EJ-7794-01A-11D-2114-08		109124684	71790576	9	4864											
MAN1A1	4121	broad.mit.edu	37	chr6	119611907	119611907	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacaaagcgtatatttacttCaaagacagaaatttcagcat	18	11	5	7	1	2	2	2	0	0	2	2	2	2	2	0	0	4	2	0	0	7	6			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr6:119611907C>T	ENST00000368468.3	-	5	1279	c.838G>A	c.(838-840)Gaa>Aaa	p.E280K	MAN1A1_ENST00000368466.2_Missense_Mutation_p.E303K	NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	280					post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		ATATTTACTTCAAAGACAGAA	0.299													9	68					0	0	1	0	0	T	119611907	C	T	119611907	3	4	89	1	0	0	0	0	1	0	0	0	9260	835	29	2	1159	2	MAN1A1	6	119611907	Missense_Mutation	SNP	C	TCGA-EJ-7794-01A-11D-2114-08		119611907	51503160	10	4865											
LAMA2	3908	broad.mit.edu	37	chr6	129762070	129762072	+	In_Frame_Del	DEL	GAA	GAA	-																															caccagaacctcgatggcctGaagaagaattacaataaact																										TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr6:129762070_129762072delGAA	ENST00000421865.2	+	43	6244_6246	c.6195_6197delGAA	c.(6193-6198)ctg>ct	p.LK2065del		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2065	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TCGATGGCCTGAAGAAGAATTAC	0.438													7	38	---	---	---	---						-	129762072	GAA	-	129762070	7	5	89	1	0	1	0	1	0	0	0	0	8645	1277	45	0	6365	0	LAMA2	6	129762070	In_Frame_Del	DEL	GAA	TCGA-EJ-7794-01A-11D-2114-08	10150163	129762070	41352997	11	4866											
MEPCE	56257	broad.mit.edu	37	chr7	100028454	100028454	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccggggacagcaccaccaGcagcagcaggcagccggagg	11	0	15	15	2	0	0	0	0	0	0	0	2	0	2	4	5	5	5	4	5	0	0			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr7:100028454G>C	ENST00000310512.2	+	1	1201	c.813G>C	c.(811-813)caG>caC	p.Q271H	MEPCE_ENST00000414441.1_5'UTR	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	271							methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGCACCACCAGCAGCAGCAGG	0.647													4	221					0	0	1	0	0	C	100028454	G	C	100028454	3	2	89	1	0	0	0	0	1	0	0	0	9527	962	34	4	815	4	MEPCE	7	100028454	Missense_Mutation	SNP	G	TCGA-EJ-7794-01A-11D-2114-08		100028454	59110209	12	4867											
PTPRZ1	5803	broad.mit.edu	37	chr7	121651647	121651647	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacaagttacttcagctacCgagagtgataaggtgccctt	11	10	9	11	1	1	2	1	1	0	1	1	3	1	2	3	1	4	2	3	1	4	5	rs147331896		TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr7:121651647C>T	ENST00000393386.2	+	12	2958	c.2547C>T	c.(2545-2547)acC>acT	p.T849T	PTPRZ1_ENST00000483028.1_Intron|PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	849					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CTTCAGCTACCGAGAGTGATA	0.478													16	109					0	0	1	0	0	T	121651647	C	T	121651647	2	4	89	1	0	0	0	0	0	0	0	1	12866	639	23	1		1	PTPRZ1	7	121651647	Silent	SNP	C	TCGA-EJ-7794-01A-11D-2114-08	21623193	121651647	37487016	13	4868											
TRIM24	8805	broad.mit.edu	37	chr7	138145410	138145410	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccgagagtcggcagggcccGgactcggagcgcggcggcga	6	2	20	13	8	0	1	0	0	0	1	2	5	0	3	2	6	1	1	2	6	0	0			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr7:138145410G>A	ENST00000343526.4	+	1	332	c.117G>A	c.(115-117)ccG>ccA	p.P39P	TRIM24_ENST00000415680.2_Silent_p.P39P			O15164	TIF1A_HUMAN	tripartite motif containing 24	39					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						GGCAGGGCCCGGACTCGGAGC	0.766													2	5					0	0	1	0	0	A	138145410	G	A	138145410	2	1	89	1	0	0	0	0	0	0	0	1	16559	1103	39	1		1	TRIM24	7	138145410	Silent	SNP	G	TCGA-EJ-7794-01A-11D-2114-08	16493763	138145410	20993253	14	4869											
TNFRSF10B	8795	broad.mit.edu	37	chr8	22880193	22880193	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagaatcacacttaggacatGgcagagtctgcattaccttc	12	10	9	10	0	2	2	1	0	1	2	3	4	2	3	1	2	2	2	1	2	3	3			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr8:22880193G>T	ENST00000276431.4	-	9	1598	c.1314C>A	c.(1312-1314)gcC>gcA	p.A438A	TNFRSF10B_ENST00000542226.1_Silent_p.A258A|TNFRSF10B_ENST00000347739.3_Silent_p.A409A	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN	tumor necrosis factor receptor superfamily, member 10b	438					activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade	plasma membrane	caspase activator activity|receptor activity|TRAIL binding			NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		CTTAGGACATGGCAGAGTCTG	0.478													3	41					1	1	1	1	0	T	22880193	G	T	22880193	2	4	89	1	0	0	0	0	0	0	0	1	16341	1335	47	4		4	TNFRSF10B	8	22880193	Silent	SNP	G	TCGA-EJ-7794-01A-11D-2114-08		22880193	123483829	15	4870											
FIBCD1	84929	broad.mit.edu	37	chr9	133779562	133779562	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcataggaggcgtgcgcaccGcgcaggtactgcccattgag	8	6	15	12	4	0	1	0	1	0	0	0	2	0	2	2	3	3	4	2	3	2	3			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr9:133779562G>A	ENST00000372338.4	-	7	1517	c.1275C>T	c.(1273-1275)cgC>cgT	p.R425R	FIBCD1_ENST00000372337.2_Silent_p.R267R|FIBCD1_ENST00000448616.1_Silent_p.R425R|FIBCD1_ENST00000253018.4_Intron	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	425	Fibrinogen C-terminal.				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		CGTGCGCACCGCGCAGGTACT	0.627													21	88					0	0	1	0	0	A	133779562	G	A	133779562	2	1	89	1	0	0	0	0	0	0	0	1	5917	1074	38	1		1	FIBCD1	9	133779562	Silent	SNP	G	TCGA-EJ-7794-01A-11D-2114-08		133779562	7433869	16	4871											
GBF1	8729	broad.mit.edu	37	chr10	104136749	104136749	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atatgacagcaaagggaaccGcttcaagaagaaatccaaag	19	5	9	8	1	1	3	1	1	0	2	2	4	2	4	2	1	2	2	2	1	7	2			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr10:104136749G>A	ENST00000369983.3	+	33	4603	c.4343G>A	c.(4342-4344)cGc>cAc	p.R1448H		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1448					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		AAAGGGAACCGCTTCAAGAAG	0.517													4	109					0	0	1	0	0	A	104136749	G	A	104136749	3	1	89	1	0	0	0	0	1	0	0	0	6311	1087	38	1	4469	1	GBF1	10	104136749	Missense_Mutation	SNP	G	TCGA-EJ-7794-01A-11D-2114-08		104136749	31397998	17	4872											
STK32C	282974	broad.mit.edu	37	chr10	134040390	134040390	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctcggagaactgcacgtTctgctgcaggtggtagcgca	7	9	14	11	3	1	1	0	0	1	1	3	2	2	1	1	3	5	6	1	3	2	2			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr10:134040390T>C	ENST00000368622.1	-	4	583	c.202A>G	c.(202-204)Aac>Gac	p.N68D	STK32C_ENST00000368625.4_Missense_Mutation_p.N198D			Q86UX6	ST32C_HUMAN	serine/threonine kinase 32C	185							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)		AACTGCACGTTCTGCTGCAGG	0.612													7	65					0	0	1	0	0	C	134040390	T	C	134040390	3	2	89	1	0	0	0	0	1	0	0	0	15355	1783	62	3	943	3	STK32C	10	134040390	Missense_Mutation	SNP	T	TCGA-EJ-7794-01A-11D-2114-08	29903641	134040390	1494357	18	4873											
PTPRO	5800	broad.mit.edu	37	chr12	15742395	15742395	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acattcttttgcagtgctggCgtgggacggacaggaacatt	9	11	13	8	2	1	0	0	0	1	0	1	3	1	3	0	4	3	2	0	4	1	4			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr12:15742395C>T	ENST00000281171.4	+	25	3747	c.3417C>T	c.(3415-3417)ggC>ggT	p.G1139G	PTPRO_ENST00000542557.1_Silent_p.G300G|PTPRO_ENST00000445537.2_Silent_p.G328G|PTPRO_ENST00000544244.1_Silent_p.G300G|PTPRO_ENST00000348962.2_Silent_p.G1111G|PTPRO_ENST00000442921.2_Silent_p.G328G	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	1139	Substrate binding (By similarity).|Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				GCAGTGCTGGCGTGGGACGGA	0.453													7	160					0	0	1	0	0	T	15742395	C	T	15742395	2	4	89	1	0	0	0	0	0	0	0	1	12861	755	27	1		1	PTPRO	12	15742395	Silent	SNP	C	TCGA-EJ-7794-01A-11D-2114-08		15742395	118109500	19	4874											
USP15	9958	broad.mit.edu	37	chr12	62777707	62777707	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctttcctattagatggattAcatgaggatttgaatagaat	13	15	9	4	0	0	4	0	2	0	2	1	6	1	6	1	2	1	1	1	2	6	6			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr12:62777707A>C	ENST00000280377.5	+	10	1234	c.1176A>C	c.(1174-1176)ttA>ttC	p.L392F	USP15_ENST00000353364.3_Missense_Mutation_p.L363F|USP15_ENST00000393654.3_Missense_Mutation_p.L367F	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	392					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		TAGATGGATTACATGAGGATT	0.368													10	42					0	0	1	0	0	C	62777707	A	C	62777707	3	2	89	1	0	0	0	0	1	0	0	0	17106	388	14	5	1123	5	USP15	12	62777707	Missense_Mutation	SNP	A	TCGA-EJ-7794-01A-11D-2114-08	47035312	62777707	71074188	20	4875											
ANO4	121601	broad.mit.edu	37	chr12	101381393	101381393	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacaaggagacactgccaGacctggaggagaatgactgc	13	5	14	9	0	0	4	0	1	0	3	0	8	0	6	2	4	2	0	2	4	2	0			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr12:101381393G>T	ENST00000392979.3	+	7	935	c.574G>T	c.(574-576)Gac>Tac	p.D192Y	ANO4_ENST00000392977.3_Missense_Mutation_p.D227Y|ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000538618.1_3'UTR	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	227						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GACACTGCCAGACCTGGAGGA	0.498										HNSCC(74;0.22)	OREG0022059	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	151					4.16121e-05	4.71604e-05	1	1	0	T	101381393	G	T	101381393	3	4	89	1	0	0	0	0	1	0	0	0	693	942	33	4	596	4	ANO4	12	101381393	Missense_Mutation	SNP	G	TCGA-EJ-7794-01A-11D-2114-08	38603686	101381393	32470502	21	4876											
TBC1D2B	23102	broad.mit.edu	37	chr15	78317633	78317633	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caggtctttctttaactgttCcagctcttcctgctggctct	4	17	7	13	0	4	0	0	0	4	0	6	0	6	0	2	2	3	4	2	2	1	5			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr15:78317633C>T	ENST00000409931.3	-	5	1125	c.1054G>A	c.(1054-1056)Gaa>Aaa	p.E352K	TBC1D2B_ENST00000300584.3_Missense_Mutation_p.E352K			Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	352						intracellular	protein binding|Rab GTPase activator activity			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						TTTAACTGTTCCAGCTCTTCC	0.547													9	76					0	0	1	0	0	T	78317633	C	T	78317633	3	4	89	1	0	0	0	0	1	0	0	0	15676	864	30	2	1873	2	TBC1D2B	15	78317633	Missense_Mutation	SNP	C	TCGA-EJ-7794-01A-11D-2114-08		78317633	24213759	22	4877											
RAI1	10743	broad.mit.edu	37	chr17	17697096	17697096	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccgcctcagctatgaccaGcagcagcagcagcagcagca	11	3	12	15	1	1	1	1	1	0	0	1	1	1	1	3	1	8	8	3	1	1	1	rs113303801		TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr17:17697096G>C	ENST00000353383.1	+	3	1303	c.834G>C	c.(832-834)caG>caC	p.Q278H	RAI1_ENST00000261641.6_Missense_Mutation_p.Q278H	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	278	Gln-rich.|Poly-Gln.					cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GCTATGACcagcagcagcagc	0.637													3	40					0	0	1	0	0	C	17697096	G	C	17697096	3	2	89	1	0	0	0	0	1	0	0	0	13059	962	34	4	836	4	RAI1	17	17697096	Missense_Mutation	SNP	G	TCGA-EJ-7794-01A-11D-2114-08		17697096	63498114	23	4878											
SUPT6H	6830	broad.mit.edu	37	chr17	27022376	27022376	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctgtggatctaggtgggaAtgactgttcactgccgcatc	7	13	12	9	1	3	1	1	1	2	0	4	3	3	3	1	3	1	2	1	3	2	3			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr17:27022376A>G	ENST00000314616.6	+	29	4064	c.3781A>G	c.(3781-3783)Atg>Gtg	p.M1261V	SUPT6H_ENST00000347486.4_Missense_Mutation_p.M1261V	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1261	S1 motif.				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					ctaGGTGGGAATGACTGTTCA	0.488													10	29					0	0	1	0	0	G	27022376	A	G	27022376	3	3	89	1	0	0	0	0	1	0	0	0	15456	101	4	3	3891	3	SUPT6H	17	27022376	Missense_Mutation	SNP	A	TCGA-EJ-7794-01A-11D-2114-08	9325280	27022376	54172834	24	4879											
SYMPK	8189	broad.mit.edu	37	chr19	46334800	46334800	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgctctctgtcttcaccacCttctcctccttgggctcctc	3	14	5	19	1	4	0	1	0	3	0	9	0	6	0	5	1	0	2	5	1	0	3			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr19:46334800C>T	ENST00000245934.7	-	12	1684	c.1440G>A	c.(1438-1440)aaG>aaA	p.K480K		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	480					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		TCTTCACCACCTTCTCCTCCT	0.622													3	17					0	0	1	0	0	T	46334800	C	T	46334800	2	4	89	1	0	0	0	0	0	0	0	1	15496	680	24	2		2	SYMPK	19	46334800	Silent	SNP	C	TCGA-EJ-7794-01A-11D-2114-08		46334800	12794183	25	4880											
ZNF616	90317	broad.mit.edu	37	chr19	52618945	52618945	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attcattgcatttgtaaggtTtctctccagtatgaattctc	9	18	6	8	0	3	1	1	1	2	0	6	1	4	1	1	1	1	4	1	1	3	7			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr19:52618945T>C	ENST00000600228.1	-	4	1733	c.1472A>G	c.(1471-1473)aAa>aGa	p.K491R	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	491					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		TTTGTAAGGTTTCTCTCCAGT	0.403													3	105					0	0	1	0	0	C	52618945	T	C	52618945	3	2	89	1	0	0	0	0	1	0	0	0	18098	1841	64	3	877	3	ZNF616	19	52618945	Missense_Mutation	SNP	T	TCGA-EJ-7794-01A-11D-2114-08	6284145	52618945	6510038	26	4881											
OSCAR	126014	broad.mit.edu	37	chr19	54598563	54598563	+	Frame_Shift_Del	DEL	C	C	-																															cgcgcccagggagatgaggaCcagcccggccagccccaggc																										TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr19:54598563delC	ENST00000358375.4	-	5	760	c.715delG	c.(715-717)tcfs	p.V239fs	OSCAR_ENST00000351806.4_Frame_Shift_Del_p.V228fs|OSCAR_ENST00000284648.6_3'UTR|OSCAR_ENST00000356532.3_Frame_Shift_Del_p.V243fs|OSCAR_ENST00000359649.4_3'UTR|OSCAR_ENST00000391761.1_3'UTR	NM_133169.3	NP_573399.1	Q8IYS5	OSCAR_HUMAN	osteoclast associated, immunoglobulin-like receptor	0						extracellular region|integral to membrane|plasma membrane	receptor activity			large_intestine(1)|skin(1)	2	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)					GAGATGAGGACCAGCCCGGCC	0.697													4	8	---	---	---	---						-	54598563	C	-	54598563	7	5	89	1	0	1	0	1	0	0	0	0	11332	507	18	0	80	0	OSCAR	19	54598563	Frame_Shift_Del	DEL	C	TCGA-EJ-7794-01A-11D-2114-08	1979618	54598563	4530420	27	4882											
PTPRA	0	broad.mit.edu	37	chr20	3005196	3005196	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aactggaagtgacctctctaGaaacccacctgcagaaaatt	15	8	7	11	0	1	3	0	1	1	2	2	4	1	4	3	1	3	1	3	1	6	2			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr20:3005196G>A	ENST00000216877.6	+	16	1916	c.1516G>A	c.(1516-1518)Gaa>Aaa	p.E506K	PTPRA_ENST00000356147.3_Missense_Mutation_p.E506K|PTPRA_ENST00000380393.3_Missense_Mutation_p.E515K|PTPRA_ENST00000318266.5_Missense_Mutation_p.E506K|PTPRA_ENST00000358719.4_Missense_Mutation_p.E371K|PTPRA_ENST00000425918.2_Missense_Mutation_p.E526K|PTPRA_ENST00000399903.2_Missense_Mutation_p.E515K	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	515					axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GACCTCTCTAGAAACCCACCT	0.433													15	116					0	0	1	0	0	A	3005196	G	A	3005196	3	1	89	1	0	0	0	0	1	0	0	0	12847	943	33	2	1597	2	PTPRA	20	3005196	Missense_Mutation	SNP	G	TCGA-EJ-7794-01A-11D-2114-08		3005196	60020324	28	4883											
ATP9A	10079	broad.mit.edu	37	chr20	50307319	50307319	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gttgtgaatgtcaatatttgGctcttctgcgtacacatacg	9	15	9	8	2	3	1	1	1	2	0	3	1	3	1	0	1	3	3	0	1	5	6			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr20:50307319G>A	ENST00000338821.5	-	8	946	c.682C>T	c.(682-684)Cca>Tca	p.P228S	ATP9A_ENST00000311637.5_Intron|ATP9A_ENST00000402822.1_Intron	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	228					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCAATATTTGGCTCTTCTGCG	0.463													6	155					0	0	1	0	0	A	50307319	G	A	50307319	3	1	89	1	0	0	0	0	1	0	0	0	1196	1203	42	2	2545	2	ATP9A	20	50307319	Missense_Mutation	SNP	G	TCGA-EJ-7794-01A-11D-2114-08	47302123	50307319	12718201	29	4884											
NPHP4	261734	broad.mit.edu	37	chr1	5934619	5934619	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcgcaggtagagctgggggGccaggctgccacgcaggtgg	6	4	21	10	2	0	1	0	0	0	1	0	1	0	1	2	8	2	5	2	8	1	1			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr1:5934619G>A	ENST00000378156.4	-	22	3408	c.3143C>T	c.(3142-3144)gCc>gTc	p.A1048V	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	1048					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		GAGCTGGGGGGCCAGGCTGCC	0.652													4	19					0	0	1	0	0	A	5934619	G	A	5934619	3	1	90	1	0	0	0	0	1	0	0	0	10628	1203	42	2	1173	2	NPHP4	1	5934619	Missense_Mutation	SNP	G	TCGA-EJ-7797-01A-11D-2260-08		5934619	243316002	1	4885											
CTNNBIP1	56998	broad.mit.edu	37	chr1	9931303	9931303	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgttgaccacccctgcataGgtgcgcaggaactcctcctc	7	9	9	16	1	0	1	0	1	0	0	3	2	2	2	5	2	3	3	5	2	2	2			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr1:9931303G>A	ENST00000377263.1	-	5	440	c.129C>T	c.(127-129)acC>acT	p.T43T	CTNNBIP1_ENST00000400904.3_Silent_p.T43T|CTNNBIP1_ENST00000537447.1_Silent_p.T43T|CTNNBIP1_ENST00000377258.1_Silent_p.T43T|CTNNBIP1_ENST00000377256.1_Silent_p.T43T	NM_001012329.1|NM_020248.2	NP_001012329.1|NP_064633.1	Q9NSA3	CNBP1_HUMAN	catenin, beta interacting protein 1	43					anterior/posterior pattern formation|branching involved in ureteric bud morphogenesis|negative regulation of mesenchymal cell proliferation|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell proliferation|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway|positive regulation of monocyte differentiation|positive regulation of osteoblast differentiation|regulation of vascular permeability involved in acute inflammatory response|Wnt receptor signaling pathway	Axin-APC-beta-catenin-GSK3B complex|cytosol|nucleus	armadillo repeat domain binding|beta-catenin binding			cervix(1)|large_intestine(1)|lung(1)	3		all_lung(284;1.82e-05)|Lung NSC(185;3.08e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;7.32e-08)|COAD - Colon adenocarcinoma(227;1.73e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000912)|KIRC - Kidney renal clear cell carcinoma(229;0.00112)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		CCCCTGCATAGGTGCGCAGGA	0.647													2	8					0	0	1	0	0	A	9931303	G	A	9931303	2	1	90	1	0	0	0	0	0	0	0	1	4041	987	35	2		2	CTNNBIP1	1	9931303	Silent	SNP	G	TCGA-EJ-7797-01A-11D-2260-08	3996684	9931303	239319318	2	4886											
SERBP1	26135	broad.mit.edu	37	chr1	67895763	67895763	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggttcttgcggtctttctggGactccttgcgcagctgtttg	2	16	13	10	2	3	0	0	0	3	0	4	1	4	1	1	3	3	4	1	3	0	5			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr1:67895763G>A	ENST00000370994.4	-	1	335	c.221C>T	c.(220-222)tCc>tTc	p.S74F	SERBP1_ENST00000370990.5_Missense_Mutation_p.S74F|SERBP1_ENST00000370995.2_Missense_Mutation_p.S74F|SERBP1_ENST00000361219.6_Missense_Mutation_p.S74F	NM_001018067.1|NM_001018068.1|NM_001018069.1|NM_015640.3	NP_001018077.1|NP_001018078.1|NP_001018079.1|NP_056455.3	Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1	74					regulation of mRNA stability	nucleus|perinuclear region of cytoplasm	mRNA 3'-UTR binding|protein binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						GTCTTTCTGGGACTCCTTGCG	0.667													14	86					0	0	1	0	0	A	67895763	G	A	67895763	3	1	90	1	0	0	0	0	1	0	0	0	14129	1174	41	2	1037	2	SERBP1	1	67895763	Missense_Mutation	SNP	G	TCGA-EJ-7797-01A-11D-2260-08	57964460	67895763	181354858	3	4887											
ABCA4	24	broad.mit.edu	37	chr1	94526101	94526101	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catttggcttaccatgatgaAtatcgtcaggaggaagatgc	12	11	11	7	1	1	3	1	2	0	1	2	5	1	5	1	3	2	1	1	3	4	3			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr1:94526101A>G	ENST00000370225.3	-	14	2238	c.2152T>C	c.(2152-2154)Ttc>Ctc	p.F718L	ABCA4_ENST00000535735.1_Missense_Mutation_p.F718L	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	718					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		ACCATGATGAATATCGTCAGG	0.468													9	54					0	0	1	0	0	G	94526101	A	G	94526101	3	3	90	1	0	0	0	0	1	0	0	0	34	101	4	3	4817	3	ABCA4	1	94526101	Missense_Mutation	SNP	A	TCGA-EJ-7797-01A-11D-2260-08	26630338	94526101	154724520	4	4888											
OR10J1	26476	broad.mit.edu	37	chr1	159410278	159410278	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agattgcttcagttgagggcCggaagaaggcttttgccacc	9	10	13	9	1	1	3	1	1	0	2	1	4	1	4	3	3	2	3	3	3	2	5			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr1:159410278C>T	ENST00000423932.3	+	1	767	c.730C>T	c.(730-732)Cgg>Tgg	p.R244W	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	244					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					AGTTGAGGGCCGGAAGAAGGC	0.478													7	57					0	0	1	0	0	T	159410278	C	T	159410278	3	4	90	1	0	0	0	0	1	0	0	0	10958	643	23	1	732	1	OR10J1	1	159410278	Missense_Mutation	SNP	C	TCGA-EJ-7797-01A-11D-2260-08	64884177	159410278	89840343	5	4889											
PRKD3	23683	broad.mit.edu	37	chr2	37516516	37516516	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctcttcactgggaagggCtacatattcaggctgtaggg	9	11	12	9	0	3	0	2	0	1	0	3	1	3	1	1	4	2	3	1	4	5	6			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr2:37516516C>A	ENST00000379066.1	-	5	1462	c.700G>T	c.(700-702)Gcc>Tcc	p.A234S	PRKD3_ENST00000234179.2_Missense_Mutation_p.A234S			O94806	KPCD3_HUMAN	protein kinase D3	234					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				CTGGGAAGGGCTACATATTCA	0.418													3	68					1	1	1	1	0	A	37516516	C	A	37516516	3	1	90	1	0	0	0	0	1	0	0	0	12572	797	28	4	2032	4	PRKD3	2	37516516	Missense_Mutation	SNP	C	TCGA-EJ-7797-01A-11D-2260-08		37516516	205682857	6	4890											
DHX57	90957	broad.mit.edu	37	chr2	39053767	39053767	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttagttactcctgcaggagGttttacaaacacagcctgct	10	12	8	11	0	0	0	0	0	0	0	1	1	1	1	2	2	6	4	2	2	4	4			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr2:39053767G>C	ENST00000295373.6	-	15	2830	c.2704C>G	c.(2704-2706)Cct>Gct	p.P902A		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	902	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				CCTGCAGGAGGTTTTACAAAC	0.383													3	55					0	0	1	0	0	C	39053767	G	C	39053767	3	2	90	1	0	0	0	0	1	0	0	0	4541	1261	44	4	1496	4	DHX57	2	39053767	Missense_Mutation	SNP	G	TCGA-EJ-7797-01A-11D-2260-08	1537251	39053767	204145606	7	4891											
THNSL2	55258	broad.mit.edu	37	chr2	88484958	88484958	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccccactcagcggtggccGtgaactaccattaccagcag	9	6	10	16	2	1	1	1	1	0	0	1	1	1	1	5	2	5	1	5	2	3	2	rs144146961	by1000genomes	TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr2:88484958G>A	ENST00000324166.5	+	7	2880	c.1189G>A	c.(1189-1191)Gtg>Atg	p.V397M	THNSL2_ENST00000358591.2_Missense_Mutation_p.V397M|THNSL2_ENST00000449349.1_Intron|THNSL2_ENST00000343544.4_Intron|THNSL2_ENST00000496844.1_Intron|THNSL2_ENST00000377254.3_Intron|THNSL2_ENST00000402102.1_Intron	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	397					threonine biosynthetic process		threonine synthase activity			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						AGCGGTGGCCGTGAACTACCA	0.587													3	19					0	0	1	0	0	A	88484958	G	A	88484958	3	1	90	1	0	0	0	0	1	0	0	0	15923	1145	40	1	1215	1	THNSL2	2	88484958	Missense_Mutation	SNP	G	TCGA-EJ-7797-01A-11D-2260-08	49431191	88484958	154714415	8	4892											
TTN	7273	broad.mit.edu	37	chr2	179592402	179592402	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcttagaagcatccactgAgtagagatttaagaagctag	15	10	10	6	0	1	4	0	1	1	3	2	5	2	4	1	0	2	3	1	0	6	5			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr2:179592402A>C	ENST00000589042.1	-	68	20127	c.19903T>G	c.(19903-19905)Tca>Gca	p.S6635A	TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.S6318A|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S5391A|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6318	Ig-like 48.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCATCCACTGAGTAGAGATTT	0.403													13	220					0	0	1	0	0	C	179592402	A	C	179592402	3	2	90	1	0	0	0	0	1	0	0	0	16797	304	11	5	84806	5	TTN	2	179592402	Missense_Mutation	SNP	A	TCGA-EJ-7797-01A-11D-2260-08	91107444	179592402	63606971	9	4893											
PLCL1	5334	broad.mit.edu	37	chr2	198950517	198950517	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagatacacggaattccagCggattgttcggaacaaagaa	16	7	11	7	3	0	2	0	0	0	2	2	6	1	5	1	3	3	1	1	3	5	4			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr2:198950517C>T	ENST00000428675.1	+	2	2674	c.2276C>T	c.(2275-2277)gCg>gTg	p.A759V	PLCL1_ENST00000437704.2_Missense_Mutation_p.A661V	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	759	C2.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GGAATTCCAGCGGATTGTTCG	0.418													10	52					0	0	1	0	0	T	198950517	C	T	198950517	3	4	90	1	0	0	0	0	1	0	0	0	12087	768	27	1	2282	1	PLCL1	2	198950517	Missense_Mutation	SNP	C	TCGA-EJ-7797-01A-11D-2260-08	19358115	198950517	44248856	10	4894											
WNT6	7475	broad.mit.edu	37	chr2	219735816	219735816	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcacggcggctggccgggCggcaggccgagttgtgccag	5	4	20	12	5	0	0	0	0	0	0	0	1	0	0	3	7	1	4	3	7	0	1			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr2:219735816C>T	ENST00000233948.3	+	2	365	c.148C>T	c.(148-150)Cgg>Tgg	p.R50W	WNT6_ENST00000486233.1_Intron	NM_006522.3	NP_006513.1	Q9Y6F9	WNT6_HUMAN	wingless-type MMTV integration site family, member 6	50					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			large_intestine(1)|ovary(2)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTGGCCGGGCGGCAGGCCGA	0.667													6	123					0	0	1	0	0	T	219735816	C	T	219735816	3	4	90	1	0	0	0	0	1	0	0	0	17453	759	27	1	154	1	WNT6	2	219735816	Missense_Mutation	SNP	C	TCGA-EJ-7797-01A-11D-2260-08	20785299	219735816	23463557	11	4895											
CNOT10	25904	broad.mit.edu	37	chr3	32800949	32800949	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccttcccttttgtgttataGgtgctccatacttgcttgca	5	17	7	12	0	0	0	0	0	0	0	2	0	2	0	3	1	4	4	3	1	3	8			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr3:32800949G>C	ENST00000328834.5	+	14	1911		c.e14-1		CNOT10_ENST00000454516.2_Splice_Site|CNOT10_ENST00000331889.6_Splice_Site|CNOT10_ENST00000538368.1_Splice_Site	NM_015442.2	NP_056257.1	Q9H9A5	CNOTA_HUMAN	CCR4-NOT transcription complex, subunit 10						nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						TTGTGTTATAGGTGCTCCATA	0.428													18	491					0	0	1	0	0	C	32800949	G	C	32800949	5	2	90	1	0	0	0	0	0	0	1	0	3641	1014	35	4	1649	4	CNOT10	3	32800949	Splice_Site	SNP	G	TCGA-EJ-7797-01A-11D-2260-08		32800949	165221481	12	4896											
FOXP1	27086	broad.mit.edu	37	chr3	71096126	71096126	+	Nonsense_Mutation	SNP	G	G	A																															ttgaaggggaagggcaggctGcccgggctgaattgtcagaa																										TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr3:71096126G>A	ENST00000318789.4	-	10	1156	c.631C>T	c.(631-633)Cag>Tag	p.Q211*	FOXP1_ENST00000468577.1_Nonsense_Mutation_p.Q211*|FOXP1_ENST00000472382.1_5'UTR|FOXP1_ENST00000493089.1_Nonsense_Mutation_p.Q211*|FOXP1_ENST00000475937.1_Nonsense_Mutation_p.Q211*|FOXP1_ENST00000498215.1_Nonsense_Mutation_p.Q211*|FOXP1_ENST00000484350.1_Nonsense_Mutation_p.Q135*|FOXP1_ENST00000491238.1_Nonsense_Mutation_p.Q213*	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	211	Gln-rich.			GQP -> ARA (in Ref. 1; AAK69408).	cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		AGGGCAGGCTGCCCGGGCTGA	0.532			T	PAX5	ALL								24	262					0	0	1	0	0	A	71096126	G	A	71096126	4	1	90	1	0	0	0	0	0	1	0	0	6060	1328	46	2	1450	2	FOXP1	3	71096126	Nonsense_Mutation	SNP	G	TCGA-EJ-7797-01A-11D-2260-08	38295177	71096126	126926304	13	4897	24	2									
FOXP1	27086	broad.mit.edu	37	chr3	71096127	71096127	+	Silent	SNP	C	C	A																															tgaaggggaagggcaggctgCccgggctgaattgtcagaag																										TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr3:71096127C>A	ENST00000318789.4	-	10	1155	c.630G>T	c.(628-630)ggG>ggT	p.G210G	FOXP1_ENST00000468577.1_Silent_p.G210G|FOXP1_ENST00000472382.1_5'UTR|FOXP1_ENST00000493089.1_Silent_p.G210G|FOXP1_ENST00000475937.1_Silent_p.G210G|FOXP1_ENST00000498215.1_Silent_p.G210G|FOXP1_ENST00000484350.1_Silent_p.G134G|FOXP1_ENST00000491238.1_Silent_p.G212G	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	210	Gln-rich.			GQP -> ARA (in Ref. 1; AAK69408).	cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		GGGCAGGCTGCCCGGGCTGAA	0.532			T	PAX5	ALL								25	258					2.48779e-11	2.95426e-11	1	1	0	A	71096127	C	A	71096127	2	1	90	1	0	0	0	0	0	0	0	1	6060	726	26	4		4	FOXP1	3	71096127	Silent	SNP	C	TCGA-EJ-7797-01A-11D-2260-08	1	71096127	126926303	14	4898	24	2									
EVC	2121	broad.mit.edu	37	chr4	5735120	5735120	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tacagccttcacttaaaagaCctgctgcatttggacacggc	11	10	8	12	1	1	1	1	0	0	1	1	2	1	2	2	2	4	2	2	2	3	4			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr4:5735120C>T	ENST00000382674.2	+	5	844	c.660C>T	c.(658-660)gaC>gaT	p.D220D	EVC_ENST00000264956.6_Silent_p.D220D|EVC_ENST00000509451.1_Silent_p.D220D			P57679	EVC_HUMAN	Ellis van Creveld syndrome	220					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				ACTTAAAAGACCTGCTGCATT	0.468													63	281					0	0	1	0	0	T	5735120	C	T	5735120	2	4	90	1	0	0	0	0	0	0	0	1	5313	506	18	2		2	EVC	4	5735120	Silent	SNP	C	TCGA-EJ-7797-01A-11D-2260-08		5735120	185419156	15	4899											
PPM1K	152926	broad.mit.edu	37	chr4	89183862	89183862	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagtactgttatcctcaGtaccgtactgtattgcctgc	7	14	8	12	1	1	0	1	0	0	0	2	0	2	0	3	0	6	6	3	0	5	6			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr4:89183862G>A	ENST00000295908.6	-	7	1393	c.1004C>T	c.(1003-1005)aCt>aTt	p.T335I		NM_152542.3	NP_689755.3	Q8N3J5	PPM1K_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1K	335	PP2C-like.				protein dephosphorylation	mitochondrial matrix|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000192)		GTTATCCTCAGTACCGTACTG	0.423													10	39					0	0	1	0	0	A	89183862	G	A	89183862	3	1	90	1	0	0	0	0	1	0	0	0	12392	1029	36	2	118	2	PPM1K	4	89183862	Missense_Mutation	SNP	G	TCGA-EJ-7797-01A-11D-2260-08	83448742	89183862	101970414	16	4900											
ATOH1	474	broad.mit.edu	37	chr4	94750937	94750937	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgcgggagggtactcggTgcagctggacgctctgcact	5	10	15	11	3	2	0	0	0	2	0	3	2	2	2	0	4	5	5	0	4	1	2			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr4:94750937T>A	ENST00000306011.3	+	1	896	c.860T>A	c.(859-861)gTg>gAg	p.V287E		NM_005172.1	NP_005163.1	Q92858	ATOH1_HUMAN	atonal homolog 1 (Drosophila)	287					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		GGGTACTCGGTGCAGCTGGAC	0.647													7	89					0	0	1	0	0	A	94750937	T	A	94750937	3	1	90	1	0	0	0	0	1	0	0	0	1111	1696	59	5	862	5	ATOH1	4	94750937	Missense_Mutation	SNP	T	TCGA-EJ-7797-01A-11D-2260-08	5567075	94750937	96403339	17	4901											
DKK2	27123	broad.mit.edu	37	chr4	107956655	107956655	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggagttgagtttggcccGcgaactgccgatctgtgagc	7	10	15	9	3	1	2	0	2	1	0	1	6	1	3	2	2	3	2	2	2	1	2			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr4:107956655G>A	ENST00000285311.3	-	1	799	c.94C>T	c.(94-96)Cgg>Tgg	p.R32W	DKK2_ENST00000513208.1_Intron|DKK2_ENST00000510463.1_Intron	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	32					multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		AGTTTGGCCCGCGAACTGCCG	0.637													4	169					0	0	1	0	0	A	107956655	G	A	107956655	3	1	90	1	0	0	0	0	1	0	0	0	4573	1086	38	1	701	1	DKK2	4	107956655	Missense_Mutation	SNP	G	TCGA-EJ-7797-01A-11D-2260-08	13205718	107956655	83197621	18	4902											
FAT4	79633	broad.mit.edu	37	chr4	126242060	126242060	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgagttgactgtaaaagcCaatgatcaagctgtgccaat	13	12	9	7	0	1	3	1	3	0	0	1	3	1	3	2	0	3	3	2	0	5	3			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr4:126242060C>G	ENST00000394329.3	+	1	4507	c.4494C>G	c.(4492-4494)gcC>gcG	p.A1498A		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1498	Cadherin 14.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTGTAAAAGCCAATGATCAAG	0.383													22	99					0	0	1	0	0	G	126242060	C	G	126242060	2	3	90	1	0	0	0	0	0	0	0	1	5725	581	21	4		4	FAT4	4	126242060	Silent	SNP	C	TCGA-EJ-7797-01A-11D-2260-08	18285405	126242060	64912216	19	4903											
TNXB	7148	broad.mit.edu	37	chr6	32010244	32010244	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccacccaccagccagccgccCccatcagtctccatgtcgca	8	5	6	22	2	2	0	1	0	1	0	4	0	2	0	8	0	2	1	8	0	0	0	rs149810124	byFrequency	TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr6:32010244C>G	ENST00000375244.3	-	40	12399	c.12198G>C	c.(12196-12198)ggG>ggC	p.G4066G	TNXB_ENST00000375247.2_Silent_p.G4064G|TNXB_ENST00000451343.1_Silent_p.G495G			P22105	TENX_HUMAN	tenascin XB	4111	Fibrinogen C-terminal.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCCAGCCGCCCCCATCAGTCT	0.652													5	71					0	0	1	0	0	G	32010244	C	G	32010244	2	3	90	1	0	0	0	0	0	0	0	1	16406	610	22	4		4	TNXB	6	32010244	Silent	SNP	C	TCGA-EJ-7797-01A-11D-2260-08		32010244	139104823	20	4904											
POM121	9883	broad.mit.edu	37	chr7	72409217	72409217	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggagaggccagcaaagaaaaTaaggtacttggcattctcct	14	8	11	8	0	1	2	0	0	1	2	2	3	1	2	2	4	2	3	2	4	5	4			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr7:72409217T>G	ENST00000395270.1	+	9	1610	c.569T>G	c.(568-570)aTa>aGa	p.I190R	POM121_ENST00000358357.3_Missense_Mutation_p.I190R|POM121_ENST00000446813.1_Missense_Mutation_p.I190R|POM121_ENST00000257622.4_Missense_Mutation_p.I190R|POM121_ENST00000434423.2_Missense_Mutation_p.I455R	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	455	Pore side (Potential).|Pro-rich.|Required for targeting to the nucleus and nuclear pore complex.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				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)				GCAAAGAAAATAAGGTACTTG	0.537													14	111					0	0	1	0	0	G	72409217	T	G	72409217	3	3	90	1	0	0	0	0	1	0	0	0	12287	1406	49	5	587	5	POM121	7	72409217	Missense_Mutation	SNP	T	TCGA-EJ-7797-01A-11D-2260-08		72409217	86729446	21	4905											
LMTK2	22853	broad.mit.edu	37	chr7	97736519	97736521	+	In_Frame_Del	DEL	GCT	GCT	-																															ccgccggcgttgcggcggagGctgctgctgctgctgctggt																										TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr7:97736519_97736521delGCT	ENST00000297293.5	+	1	323_325	c.30_32delGCT	c.(28-33)agg>ag	p.RL10del		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	10					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TGCGGCGGAGGCTGCTGCTGCTG	0.764													2	4	---	---	---	---						-	97736521	GCT	-	97736519	7	5	90	1	0	1	0	1	0	0	0	0	8900	1194	42	0	32	0	LMTK2	7	97736519	In_Frame_Del	DEL	GCT	TCGA-EJ-7797-01A-11D-2260-08	25327302	97736519	61402144	22	4906											
DPP6	1804	broad.mit.edu	37	chr7	154677383	154677383	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacctacatcctcccagcaaAgggagaaaatcaaggccaga	16	4	8	13	0	1	2	1	0	0	2	3	3	3	2	4	2	2	1	4	2	5	1			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr7:154677383A>G	ENST00000404039.1	+	22	2569	c.1982A>G	c.(1981-1983)aAg>aGg	p.K661R	DPP6_ENST00000332007.3_Missense_Mutation_p.K663R|DPP6_ENST00000427557.1_Missense_Mutation_p.K618R|DPP6_ENST00000377770.3_Missense_Mutation_p.K725R	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	725					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CTCCCAGCAAAGGGAGAAAAT	0.517													2	8					0	0	1	0	0	G	154677383	A	G	154677383	3	3	90	1	0	0	0	0	1	0	0	0	4756	72	3	3	2376	3	DPP6	7	154677383	Missense_Mutation	SNP	A	TCGA-EJ-7797-01A-11D-2260-08	56940864	154677383	4461280	23	4907											
DCAF4L2	138009	broad.mit.edu	37	chr8	88885088	88885088	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcggaagcccccgaggCgagaagagaaggccacactg	11	3	13	14	3	0	2	0	0	0	2	2	6	1	3	4	3	1	0	4	3	3	0			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr8:88885088C>T	ENST00000319675.3	-	1	1208	c.1112G>A	c.(1111-1113)cGc>cAc	p.R371H		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	371								p.R371H(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GCCCCCGAGGCGAGAAGAGAA	0.592													17	39					0	0	1	0	0	T	88885088	C	T	88885088	3	4	90	1	0	0	0	0	1	0	0	0	4296	768	27	1	79	1	DCAF4L2	8	88885088	Missense_Mutation	SNP	C	TCGA-EJ-7797-01A-11D-2260-08		88885088	57478934	24	4908											
ZBTB6	10773	broad.mit.edu	37	chr9	125673324	125673324	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccatgtgtcctcggatgtgtCggttgagatttttcttctgt	4	18	11	8	2	2	1	0	1	2	1	5	3	3	2	2	2	0	1	2	2	0	4			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr9:125673324C>T	ENST00000373659.3	-	2	1116	c.1028G>A	c.(1027-1029)cGa>cAa	p.R343Q		NM_006626.5	NP_006617.1	Q15916	ZBTB6_HUMAN	zinc finger and BTB domain containing 6	343					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	11						TCGGATGTGTCGGTTGAGATT	0.413													12	67					0	0	1	0	0	T	125673324	C	T	125673324	3	4	90	1	0	0	0	0	1	0	0	0	17611	884	31	1	250	1	ZBTB6	9	125673324	Missense_Mutation	SNP	C	TCGA-EJ-7797-01A-11D-2260-08		125673324	15540107	25	4909											
DPP7	29952	broad.mit.edu	37	chr9	140007905	140007905	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcgcccccgccaccaggtGgggatacttcatcctcaggt	7	7	11	16	2	2	0	2	0	0	0	3	1	3	1	5	4	2	0	5	4	1	2			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr9:140007905G>A	ENST00000371579.2	-	5	533	c.529C>T	c.(529-531)Cac>Tac	p.H177Y		NM_013379.2	NP_037511.2	Q9UHL4	DPP2_HUMAN	dipeptidyl-peptidase 7	177						cytoplasmic membrane-bounded vesicle|extracellular region|lysosome	aminopeptidase activity|protein binding|serine-type peptidase activity			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633)		GCCACCAGGTGGGGATACTTC	0.642													3	37					0	0	1	0	0	A	140007905	G	A	140007905	3	1	90	1	0	0	0	0	1	0	0	0	4757	1348	47	2	985	2	DPP7	9	140007905	Missense_Mutation	SNP	G	TCGA-EJ-7797-01A-11D-2260-08	14334581	140007905	1205526	26	4910											
ELOVL3	83401	broad.mit.edu	37	chr10	103986390	103986390	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtccaaggacatgaggcccTttttcgaggagtattggtga	9	12	13	7	1	0	2	0	2	0	0	2	5	1	4	2	4	0	1	2	4	2	4			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr10:103986390T>C	ENST00000370005.3	+	1	306	c.85T>C	c.(85-87)Ttt>Ctt	p.F29L		NM_152310.1	NP_689523.1	Q9HB03	ELOV3_HUMAN	ELOVL fatty acid elongase 3	29					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1)	16		Colorectal(252;0.207)		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)		CATGAGGCCCTTTTTCGAGGA	0.532													3	69					0	0	1	0	0	C	103986390	T	C	103986390	3	2	90	1	0	0	0	0	1	0	0	0	5103	1609	56	3	87	3	ELOVL3	10	103986390	Missense_Mutation	SNP	T	TCGA-EJ-7797-01A-11D-2260-08		103986390	31548357	27	4911											
PAMR1	25891	broad.mit.edu	37	chr11	35515710	35515710	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagggatggtataacccaCgacttccctctttccggggc	8	9	11	13	2	1	0	0	0	1	0	3	2	3	1	3	4	1	2	3	4	3	4			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr11:35515710C>T	ENST00000378880.2	-	2	629	c.184G>A	c.(184-186)Gtg>Atg	p.V62M	PAMR1_ENST00000278360.3_Missense_Mutation_p.V62M|PAMR1_ENST00000534803.1_5'UTR|PAMR1_ENST00000532848.1_Missense_Mutation_p.V22M|PAMR1_ENST00000378878.3_Missense_Mutation_p.V62M	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	62	Cys-rich.				proteolysis	extracellular region	serine-type endopeptidase activity	p.V62M(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						GTATAACCCACGACTTCCCTC	0.522													3	125					0	0	1	0	0	T	35515710	C	T	35515710	3	4	90	1	0	0	0	0	1	0	0	0	11460	536	19	1	2073	1	PAMR1	11	35515710	Missense_Mutation	SNP	C	TCGA-EJ-7797-01A-11D-2260-08		35515710	99490806	28	4912											
TMX2	51075	broad.mit.edu	37	chr11	57506220	57506220	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actgccaatcatttgcccctAtctatgctgacctctccctt	7	14	4	16	0	3	1	1	1	2	0	4	1	3	1	5	0	3	1	5	0	3	4			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr11:57506220A>G	ENST00000278422.4	+	5	538	c.526A>G	c.(526-528)Atc>Gtc	p.I176V	TMX2_ENST00000378312.4_Missense_Mutation_p.I138V|TMX2-CTNND1_ENST00000528395.1_Intron	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	176	Thioredoxin.				cell redox homeostasis	integral to membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						ATTTGCCCCTATCTATGCTGA	0.473													32	155					0	0	1	0	0	G	57506220	A	G	57506220	3	3	90	1	0	0	0	0	1	0	0	0	16327	449	16	3	544	3	TMX2	11	57506220	Missense_Mutation	SNP	A	TCGA-EJ-7797-01A-11D-2260-08	21990510	57506220	77500296	29	4913											
FAT3	120114	broad.mit.edu	37	chr11	92088411	92088411	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccacactccctatttcccaGactttgctgttgttggatct	6	16	6	13	0	1	1	0	0	1	1	4	2	4	2	3	1	1	3	3	1	1	5			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr11:92088411G>A	ENST00000298047.6	+	1	3150	c.3133G>A	c.(3133-3135)Gac>Aac	p.D1045N	FAT3_ENST00000525166.1_Missense_Mutation_p.D895N|FAT3_ENST00000541502.1_Missense_Mutation_p.D1045N|FAT3_ENST00000409404.2_Missense_Mutation_p.D1045N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1045	Cadherin 10.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTATTTCCCAGACTTTGCTGT	0.498										TCGA Ovarian(4;0.039)			4	53					0	0	1	0	0	A	92088411	G	A	92088411	3	1	90	1	0	0	0	0	1	0	0	0	5724	942	33	2	3135	2	FAT3	11	92088411	Missense_Mutation	SNP	G	TCGA-EJ-7797-01A-11D-2260-08	34582191	92088411	42918105	30	4914											
FOLR4	390243	broad.mit.edu	37	chr11	94040719	94040719	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgagcgacggaacagtgggcGgtgtctccagaagtggtttg	8	9	17	7	3	1	2	0	1	1	1	2	4	1	3	1	4	2	1	1	4	2	1			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr11:94040719G>A	ENST00000440961.2	+	4	637	c.593G>A	c.(592-594)cGg>cAg	p.R198Q		NM_001199206.1	NP_001186135.1	A6ND01	FOLR4_HUMAN	folate receptor 4, delta (putative)	205						extracellular region	folic acid binding|receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						AACAGTGGGCGGTGTCTCCAG	0.602													4	150					0	0	1	0	0	A	94040719	G	A	94040719	3	1	90	1	0	0	0	0	1	0	0	0	6017	1116	39	1	607	1	FOLR4	11	94040719	Missense_Mutation	SNP	G	TCGA-EJ-7797-01A-11D-2260-08	1952308	94040719	40965797	31	4915											
KCNA5	3741	broad.mit.edu	37	chr12	5155075	5155075	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccctagagaagtgtaacGtcaaggccaagagcaacgtg	13	5	12	11	2	1	2	1	0	0	2	1	3	1	2	3	1	3	2	3	1	6	2			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr12:5155075G>A	ENST00000252321.3	+	1	1991	c.1762G>A	c.(1762-1764)Gtc>Atc	p.V588I		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	588						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						GAAGTGTAACGTCAAGGCCAA	0.592													3	27					0	0	1	0	0	A	5155075	G	A	5155075	3	1	90	1	0	0	0	0	1	0	0	0	8050	1145	40	1	1764	1	KCNA5	12	5155075	Missense_Mutation	SNP	G	TCGA-EJ-7797-01A-11D-2260-08		5155075	128696820	32	4916											
JAG2	3714	broad.mit.edu	37	chr14	105615582	105615582	+	Frame_Shift_Del	DEL	A	A	-																															aaagtcatcagggcaggcgcAgtaatagtcaccctccaggt																										TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr14:105615582delA	ENST00000331782.3	-	13	2081	c.1678delT	c.(1678-1680)gcfs	p.C560fs	JAG2_ENST00000347004.2_Frame_Shift_Del_p.C522fs	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	560	EGF-like 9.				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		GGGCAGGCGCAGTAATAGTCA	0.662													62	334	---	---	---	---						-	105615582	A	-	105615582	7	5	90	1	0	1	0	1	0	0	0	0	7979	188	7	0	2094	0	JAG2	14	105615582	Frame_Shift_Del	DEL	A	TCGA-EJ-7797-01A-11D-2260-08		105615582	1733958	33	4917											
FMN1	342184	broad.mit.edu	37	chr15	33261113	33261114	+	Frame_Shift_Ins	INS	-	-	G																															tggggcaggggagttaggaaINSgtgggggtgggggtgggggt																										TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr15:33261113_33261114insG	ENST00000334528.9	-	4	2118_2119	c.2119_2120insC	c.(2119-2121)tccfs	p.S707fs	FMN1_ENST00000559047.1_Frame_Shift_Ins_p.S930fs|FMN1_ENST00000561249.1_Frame_Shift_Ins_p.S832fs	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN	formin 1	930	Mediates interaction with alpha-catenin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		GGAGTTAGGAAgtgggggtggg	0.663													3	6	---	---	---	---						G	33261114	-	G	33261113	7	5	90	1	0	1	1	0	0	0	0	0	5982	72	3	0	1526	0	FMN1	15	33261113	Frame_Shift_Ins	INS	-	TCGA-EJ-7797-01A-11D-2260-08		33261113	69270279	34	4918											
MAPKBP1	23005	broad.mit.edu	37	chr15	42105829	42105829	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcccacagaccacagtggCccactgcatctctgtgagcc	8	7	9	17	0	1	2	0	1	1	1	2	2	1	2	4	1	3	1	4	1	0	0			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr15:42105829C>A	ENST00000457542.2	+	9	1116	c.830C>A	c.(829-831)gCc>gAc	p.A277D	MAPKBP1_ENST00000514566.1_Missense_Mutation_p.A277D|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.A283D|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.A165D|MAPKBP1_ENST00000221214.6_Intron	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	283										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		ACCACAGTGGCCCACTGCATC	0.582													7	110					1.6384e-10	1.90589e-10	1	1	0	A	42105829	C	A	42105829	3	1	90	1	0	0	0	0	1	0	0	0	9342	739	26	4	882	4	MAPKBP1	15	42105829	Missense_Mutation	SNP	C	TCGA-EJ-7797-01A-11D-2260-08	8844716	42105829	60425563	35	4919											
NUDT16L1	84309	broad.mit.edu	37	chr16	4744195	4744195	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacgctggagcagctgcacGccgtggagatcagcgcggtg	7	6	17	11	5	1	2	1	1	0	1	1	4	1	3	1	3	4	4	1	3	0	0			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr16:4744195G>T	ENST00000405142.1	+	2	379	c.370G>T	c.(370-372)Gcc>Tcc	p.A124S	NUDT16L1_ENST00000586536.1_Missense_Mutation_p.A124S|NUDT16L1_ENST00000586252.1_Missense_Mutation_p.A124S|NUDT16L1_ENST00000304301.6_Missense_Mutation_p.A124S			Q9BRJ7	SDOS_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 16-like 1	124	Interaction with PXN (By similarity).					cytoplasm	hydrolase activity			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4						GCAGCTGCACGCCGTGGAGAT	0.761													4	3					0.00909568	0.00942643	1	1	0	T	4744195	G	T	4744195	3	4	90	1	0	0	0	0	1	0	0	0	10781	1087	38	4	376	4	NUDT16L1	16	4744195	Missense_Mutation	SNP	G	TCGA-EJ-7797-01A-11D-2260-08		4744195	85610558	36	4920											
THAP11	57215	broad.mit.edu	37	chr16	67876808	67876808	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcaacagcagcaacaGcagcagcagcagcaacagca	17	0	10	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	10	0	0	3	0			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr16:67876808G>A	ENST00000303596.1	+	1	596	c.351G>A	c.(349-351)caG>caA	p.Q117Q	CENPT_ENST00000562787.1_Intron	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN	THAP domain containing 11	117	Gln-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|identical protein binding|metal ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		agcagcaacagcagcagcagc	0.667													5	94					0	0	1	0	0	A	67876808	G	A	67876808	2	1	90	1	0	0	0	0	0	0	0	1	15903	962	34	2		2	THAP11	16	67876808	Silent	SNP	G	TCGA-EJ-7797-01A-11D-2260-08	63132613	67876808	22477945	37	4921											
SLC12A4	6560	broad.mit.edu	37	chr16	67988583	67988583	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccccaggatgtacatggctGctgcgaatgttgttcccagg	7	10	12	12	1	0	0	0	0	0	0	1	2	1	1	3	3	3	5	3	3	2	3			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr16:67988583G>C	ENST00000422611.2	-	5	683	c.644C>G	c.(643-645)gCa>gGa	p.A215G	SLC12A4_ENST00000576616.1_Missense_Mutation_p.A213G|SLC12A4_ENST00000541864.2_Missense_Mutation_p.A182G|SLC12A4_ENST00000572037.1_Missense_Mutation_p.A165G|SLC12A4_ENST00000316341.3_Missense_Mutation_p.A213G|SLC12A4_ENST00000537830.2_Missense_Mutation_p.A207G|SLC12A4_ENST00000572010.1_5'UTR|SLC12A4_ENST00000338335.3_Missense_Mutation_p.A213G	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	213					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GTACATGGCTGCTGCGAATGT	0.562													5	86					0	0	1	0	0	C	67988583	G	C	67988583	3	2	90	1	0	0	0	0	1	0	0	0	14440	1319	46	4	2695	4	SLC12A4	16	67988583	Missense_Mutation	SNP	G	TCGA-EJ-7797-01A-11D-2260-08	111775	67988583	22366170	38	4922											
LRRC59	55379	broad.mit.edu	37	chr17	48460506	48460508	+	In_Frame_Del	DEL	AGC	AGC	-																															gccctcccgccacaccaaatAgcagcagcagcagcagcagc																										TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr17:48460506_48460508delAGC	ENST00000225972.7	-	7	1000_1002	c.765_767delGCT	c.(763-768)cta>ct	p.LL255del		NM_018509.3	NP_060979.2	Q96AG4	LRC59_HUMAN	leucine rich repeat containing 59	255	Poly-Leu.					endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial nucleoid	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			CACACCAAATagcagcagcagca	0.606													2	4	---	---	---	---						-	48460508	AGC	-	48460506	7	5	90	1	0	1	0	1	0	0	0	0	9060	420	15	0	160	0	LRRC59	17	48460506	In_Frame_Del	DEL	AGC	TCGA-EJ-7797-01A-11D-2260-08		48460506	32734704	39	4923											
EPB41L3	23136	broad.mit.edu	37	chr18	5395133	5395133	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caattcttgtctctgaaatgCcccctttcacagtctgcaag	9	13	6	13	0	4	1	1	1	3	0	5	1	4	1	2	0	2	1	2	0	3	3			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr18:5395133C>T	ENST00000341928.2	-	21	3426	c.3086G>A	c.(3085-3087)gGc>gAc	p.G1029D	EPB41L3_ENST00000540638.2_Missense_Mutation_p.G807D|EPB41L3_ENST00000544123.1_Missense_Mutation_p.G860D|EPB41L3_ENST00000400111.3_Missense_Mutation_p.G807D|EPB41L3_ENST00000342933.3_Missense_Mutation_p.G1029D|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000542146.1_Missense_Mutation_p.G334D|EPB41L3_ENST00000427684.2_Missense_Mutation_p.G326D	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	1029	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CTCTGAAATGCCCCCTTTCAC	0.478													3	91					0	0	1	0	0	T	5395133	C	T	5395133	3	4	90	1	0	0	0	0	1	0	0	0	5182	739	26	2	185	2	EPB41L3	18	5395133	Missense_Mutation	SNP	C	TCGA-EJ-7797-01A-11D-2260-08		5395133	72682115	40	4924											
EPB41L3	23136	broad.mit.edu	37	chr18	5419867	5419867	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgttgtggcgtactggccaGtaccaacctctgcagcagac	8	10	11	12	1	1	1	0	0	1	1	1	1	1	1	3	2	5	5	3	2	3	4			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr18:5419867G>A	ENST00000341928.2	-	12	1689	c.1349C>T	c.(1348-1350)aCt>aTt	p.T450I	EPB41L3_ENST00000540638.2_Missense_Mutation_p.T468I|EPB41L3_ENST00000544123.1_Missense_Mutation_p.T468I|EPB41L3_ENST00000400111.3_Missense_Mutation_p.T468I|EPB41L3_ENST00000342933.3_Missense_Mutation_p.T450I|EPB41L3_ENST00000542652.2_5'UTR	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	450	Hydrophilic.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GTACTGGCCAGTACCAACCTC	0.438													3	117					0	0	1	0	0	A	5419867	G	A	5419867	3	1	90	1	0	0	0	0	1	0	0	0	5182	1029	36	2	1958	2	EPB41L3	18	5419867	Missense_Mutation	SNP	G	TCGA-EJ-7797-01A-11D-2260-08	24734	5419867	72657381	41	4925											
LAMA3	3909	broad.mit.edu	37	chr18	21492720	21492720	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaaatctggagtcgaagtcCgactgccaaatgacctggaa	13	8	11	9	2	1	1	0	1	1	0	3	5	2	3	3	2	1	1	3	2	5	1			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr18:21492720C>T	ENST00000313654.9	+	56	7445	c.7204C>T	c.(7204-7206)Cga>Tga	p.R2402*	LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Nonsense_Mutation_p.R737*|LAMA3_ENST00000399516.3_Nonsense_Mutation_p.R2346*|LAMA3_ENST00000269217.6_Nonsense_Mutation_p.R793*	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2402	Laminin G-like 1.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGTCGAAGTCCGACTGCCAAA	0.443													8	86					0	0	1	0	0	T	21492720	C	T	21492720	4	4	90	1	0	0	0	0	0	1	0	0	8646	644	23	1	7601	1	LAMA3	18	21492720	Nonsense_Mutation	SNP	C	TCGA-EJ-7797-01A-11D-2260-08	16072853	21492720	56584528	42	4926											
HPN	3249	broad.mit.edu	37	chr19	35556886	35556886	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctggcccagaagccaggcGtctacaccaaagtcagtgac	11	5	10	15	1	2	2	1	1	1	1	2	2	2	2	4	2	2	0	4	2	3	1			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr19:35556886G>A	ENST00000262626.2	+	12	1990	c.1165G>A	c.(1165-1167)Gtc>Atc	p.V389I	HPN_ENST00000392226.1_Missense_Mutation_p.V389I|HPN-AS1_ENST00000392227.2_RNA|HPN_ENST00000597419.1_Missense_Mutation_p.V231I	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	389	Peptidase S1.				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	GAAGCCAGGCGTCTACACCAA	0.587													4	169					0	0	1	0	0	A	35556886	G	A	35556886	3	1	90	1	0	0	0	0	1	0	0	0	7377	1145	40	1	1207	1	HPN	19	35556886	Missense_Mutation	SNP	G	TCGA-EJ-7797-01A-11D-2260-08		35556886	23572097	43	4927											
ZNF610	162963	broad.mit.edu	37	chr19	52868989	52868989	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaagcaatgcagaaaacaagCctattaaaaatcaacttgga	20	7	7	7	0	1	1	1	0	0	1	1	3	1	2	1	1	5	2	1	1	10	3			TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr19:52868989C>A	ENST00000601151.1	+	5	681	c.229C>A	c.(229-231)Cct>Act	p.P77T	ZNF610_ENST00000321287.8_Missense_Mutation_p.P120T|ZNF610_ENST00000403906.3_Missense_Mutation_p.P120T|ZNF610_ENST00000327920.8_Missense_Mutation_p.P120T	NM_001161427.1	NP_001154899.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	120	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		AGAAAACAAGCCTATTAAAAA	0.403													5	148					3.59834e-05	3.94433e-05	1	1	0	A	52868989	C	A	52868989	3	1	90	1	0	0	0	0	1	0	0	0	18093	739	26	4	372	4	ZNF610	19	52868989	Missense_Mutation	SNP	C	TCGA-EJ-7797-01A-11D-2260-08	17312103	52868989	6259994	44	4928											
COL18A1	80781	broad.mit.edu	37	chr21	46911183	46911183	+	Frame_Shift_Del	DEL	C	C	-																															gggcagccgggcctccctggCccccccggacccccgggacc																										TCGA-EJ-7797-01A-11D-2260-08	TCGA-EJ-7797-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4637e5f8-e2cb-48ac-8f87-ef89e3c37574	c5de444a-73e7-4ab5-a966-7865d0d139ec	g.chr21:46911183delC	ENST00000359759.4	+	21	3378	c.3357delC	c.(3355-3357)ggfs	p.G1119fs	COL18A1_ENST00000400337.2_Frame_Shift_Del_p.G704fs|COL18A1_ENST00000355480.5_Frame_Shift_Del_p.G884fs			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1119	Triple-helical region 4 (COL4).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GCCTCCCTGGCCCCCCCGGAC	0.692													8	89	---	---	---	---						-	46911183	C	-	46911183	7	5	90	1	0	1	0	1	0	0	0	0	3698	726	26	0	3553	0	COL18A1	21	46911183	Frame_Shift_Del	DEL	C	TCGA-EJ-7797-01A-11D-2260-08		46911183	1218712	45	4929											
MACF1	23499	broad.mit.edu	37	chr1	39907713	39907717	+	Frame_Shift_Del	DEL	AAATG	AAATG	-																															aatactgttaaagatcagttAaatgaaatgaaggtttgtat																										TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr1:39907713_39907717delAAATG	ENST00000564288.1	+	75	19539_19543	c.18762_18766delAAATG	c.(18760-18768)ttaafs	p.LNE6254fs	MACF1_ENST00000372915.3_Frame_Shift_Del_p.LNE6153fs|MACF1_ENST00000545844.1_Frame_Shift_Del_p.LNE4195fs|MACF1_ENST00000567887.1_Frame_Shift_Del_p.LNE6291fs|MACF1_ENST00000539005.1_Frame_Shift_Del_p.LNE4065fs|MACF1_ENST00000317713.7_Frame_Shift_Del_p.LNE4195fs|MACF1_ENST00000361689.2_Frame_Shift_Del_p.LNE4195fs|MACF1_ENST00000289893.4_Frame_Shift_Del_p.LNE4697fs			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6263					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AAGATCAGTTAAATGAAATGAAGGT	0.356													14	64	---	---	---	---						-	39907717	AAATG	-	39907713	7	5	91	1	0	1	0	1	0	0	0	0	9190	359	13	0	19018	0	MACF1	1	39907713	Frame_Shift_Del	DEL	AAATG	TCGA-EJ-8468-01A-21D-2395-08		39907713	209342908	1	4930											
GBP4	115361	broad.mit.edu	37	chr1	89652043	89652043	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgttttagcagcctttcAtgctctctgagaaggttttc	6	18	9	8	0	2	1	1	1	1	1	4	2	2	1	1	1	3	4	1	1	2	6			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr1:89652043A>T	ENST00000355754.6	-	10	1777	c.1680T>A	c.(1678-1680)caT>caA	p.H560Q		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	560						cytoplasm	GTP binding|GTPase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		GCAGCCTTTCATGCTCTCTGA	0.478													19	78					0	0	1	0	0	T	89652043	A	T	89652043	3	4	91	1	0	0	0	0	1	0	0	0	6316	214	8	5	250	5	GBP4	1	89652043	Missense_Mutation	SNP	A	TCGA-EJ-8468-01A-21D-2395-08	49744330	89652043	159598578	2	4931											
HMCN1	83872	broad.mit.edu	37	chr1	186136032	186136032	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcgctgtgtggtccgttgtGgaagtggctttcgaagaacc	7	12	14	8	3	0	1	0	0	0	1	3	3	1	2	2	3	1	3	2	3	3	2			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr1:186136032G>A	ENST00000271588.4	+	100	15761	c.15532G>A	c.(15532-15534)Gga>Aga	p.G5178R	HMCN1_ENST00000367492.2_Missense_Mutation_p.G5178R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5178	EGF-like 2; calcium-binding (Potential).				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GGTCCGTTGTGGAAGTGGCTT	0.453													17	57					0	0	1	0	0	A	186136032	G	A	186136032	3	1	91	1	0	0	0	0	1	0	0	0	7261	1349	47	2	15930	2	HMCN1	1	186136032	Missense_Mutation	SNP	G	TCGA-EJ-8468-01A-21D-2395-08	96483989	186136032	63114589	3	4932											
TMEM169	92691	broad.mit.edu	37	chr2	216964862	216964862	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccatgtggtcctctggaCgctgatctgcctgcctgtgg	3	11	13	14	1	2	1	0	1	2	0	3	2	3	2	5	3	2	1	5	3	0	0			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr2:216964862C>T	ENST00000454545.1	+	4	817	c.491C>T	c.(490-492)aCg>aTg	p.T164M	TMEM169_ENST00000406027.2_Missense_Mutation_p.T164M|TMEM169_ENST00000437356.2_Missense_Mutation_p.T164M|TMEM169_ENST00000295658.4_Missense_Mutation_p.T164M	NM_001142310.1	NP_001135782.1	Q96HH4	TM169_HUMAN	transmembrane protein 169	164						integral to membrane				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)	13		Renal(323;0.0651)		Epithelial(149;6.44e-06)|all cancers(144;0.000398)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTCCTCTGGACGCTGATCTGC	0.502													8	101					0	0	1	0	0	T	216964862	C	T	216964862	3	4	91	1	0	0	0	0	1	0	0	0	16144	536	19	1	497	1	TMEM169	2	216964862	Missense_Mutation	SNP	C	TCGA-EJ-8468-01A-21D-2395-08		216964862	26234511	4	4933											
ALPI	248	broad.mit.edu	37	chr2	233323610	233323610	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcggcggtgcccctgtcGtccgagacccacggaggcga	6	4	16	15	6	0	1	0	0	0	1	2	4	1	2	4	5	1	0	4	5	0	0			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr2:233323610G>A	ENST00000295463.3	+	11	1418	c.1341G>A	c.(1339-1341)tcG>tcA	p.S447S		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	447					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		TGCCCCTGTCGTCCGAGACCC	0.692													4	15					0	0	1	0	0	A	233323610	G	A	233323610	2	1	91	1	0	0	0	0	0	0	0	1	539	1132	40	1		1	ALPI	2	233323610	Silent	SNP	G	TCGA-EJ-8468-01A-21D-2395-08	16358748	233323610	9875763	5	4934											
NAALADL2	254827	broad.mit.edu	37	chr3	175165149	175165149	+	Frame_Shift_Del	DEL	T	T	-																															agcgtgtagctctctagagcTtccaaataatggtaaagtat																										TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr3:175165149delT	ENST00000454872.1	+	6	1351	c.1223delT	c.(1222-1224)ctfs	p.L408fs	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	408					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		TCTCTAGAGCTTCCAAATAAT	0.368													2	4	---	---	---	---						-	175165149	T	-	175165149	7	5	91	1	0	1	0	1	0	0	0	0	10178	1609	56	0	1245	0	NAALADL2	3	175165149	Frame_Shift_Del	DEL	T	TCGA-EJ-8468-01A-21D-2395-08		175165149	22857281	6	4935											
UGT2B28	54490	broad.mit.edu	37	chr4	70146412	70146412	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagcttccattctttttgAtcccaatgacgcattcactc	8	16	4	13	1	3	2	2	2	1	0	6	2	5	2	2	0	1	2	2	0	1	6			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr4:70146412A>G	ENST00000335568.5	+	1	196	c.194A>G	c.(193-195)gAt>gGt	p.D65G	UGT2B28_ENST00000511240.1_Missense_Mutation_p.D65G	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	65					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	ATTCTTTTTGATCCCAATGAC	0.383													2	4					0	0	1	0	0	G	70146412	A	G	70146412	3	3	91	1	0	0	0	0	1	0	0	0	17020	333	12	3	196	3	UGT2B28	4	70146412	Missense_Mutation	SNP	A	TCGA-EJ-8468-01A-21D-2395-08		70146412	121007864	7	4936											
TRPC3	7222	broad.mit.edu	37	chr4	122824123	122824123	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaatgattttggactaggaaCtagactgaaaggtggaggta	15	10	13	3	0	0	3	0	2	0	1	0	6	0	6	0	5	1	1	0	5	6	5			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr4:122824123C>A	ENST00000264811.5	-	8	2546	c.2128G>T	c.(2128-2130)Gtt>Ttt	p.V710F	TRPC3_ENST00000379645.3_Missense_Mutation_p.V783F|TRPC3_ENST00000513531.1_Missense_Mutation_p.V655F	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	698					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GGACTAGGAACTAGACTGAAA	0.378													13	56					0.00010058	0.000105609	1	1	0	A	122824123	C	A	122824123	3	1	91	1	0	0	0	0	1	0	0	0	16640	565	20	4	434	4	TRPC3	4	122824123	Missense_Mutation	SNP	C	TCGA-EJ-8468-01A-21D-2395-08	52677711	122824123	68330153	8	4937											
CHD1	1105	broad.mit.edu	37	chr5	98205472	98205473	+	Frame_Shift_Ins	INS	-	-	AT																															cttactttatcatcatcttcINSatcagacttctctgaaggca																										TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr5:98205472_98205473insAT	ENST00000284049.3	-	29	4241_4242	c.4092_4093insAT	c.(4090-4095)gaaagafs	p.R1365fs	CHD1_ENST00000511067.1_5'UTR	NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1365					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TCATCATCTTCATCAGACTTCT	0.317													18	22	---	---	---	---						AT	98205473	-	AT	98205472	7	5	91	1	0	1	1	0	0	0	0	0	3345	835	29	0	1067	0	CHD1	5	98205472	Frame_Shift_Ins	INS	-	TCGA-EJ-8468-01A-21D-2395-08		98205472	82709788	9	4938											
VARS2	57176	broad.mit.edu	37	chr6	30884980	30884980	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactggtcatgtgctttaagAtcagccatctcggacattga	11	12	9	9	1	3	2	2	1	1	1	4	3	3	3	1	2	3	1	1	2	2	3			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr6:30884980A>T	ENST00000321897.5	+	8	1484	c.852A>T	c.(850-852)agA>agT	p.R284S	VARS2_ENST00000416670.2_Missense_Mutation_p.R284S|VARS2_ENST00000542001.1_Missense_Mutation_p.R144S|VARS2_ENST00000541562.1_Missense_Mutation_p.R314S			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	284					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						GTGCTTTAAGATCAGCCATCT	0.537													46	96					0	0	1	0	0	T	30884980	A	T	30884980	3	4	91	1	0	0	0	0	1	0	0	0	17184	330	12	5	976	5	VARS2	6	30884980	Missense_Mutation	SNP	A	TCGA-EJ-8468-01A-21D-2395-08		30884980	140230087	10	4939											
KCNS2	3788	broad.mit.edu	37	chr8	99440249	99440249	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgtgtcggaggctaacgtCgaggacggggagatccgcat	9	6	17	9	6	0	1	0	0	0	1	3	6	1	3	1	5	1	2	1	5	1	1			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr8:99440249C>A	ENST00000287042.4	+	2	392	c.42C>A	c.(40-42)gtC>gtA	p.V14V	KCNS2_ENST00000521839.1_Silent_p.V14V	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	14						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			AGGCTAACGTCGAGGACGGGG	0.716													4	14					0.00024832	0.000254377	1	1	0	A	99440249	C	A	99440249	2	1	91	1	0	0	0	0	0	0	0	1	8133	871	31	4		4	KCNS2	8	99440249	Silent	SNP	C	TCGA-EJ-8468-01A-21D-2395-08		99440249	46923773	11	4940											
CSMD3	114788	broad.mit.edu	37	chr8	113308118	113308118	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctgttgacatatcctcactGaagaaccaatcaatcgaaaa	16	9	5	11	1	2	3	2	2	0	1	4	4	3	3	3	0	1	1	3	0	7	2			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr8:113308118G>A	ENST00000297405.5	-	54	8802	c.8558C>T	c.(8557-8559)tCa>tTa	p.S2853L	CSMD3_ENST00000352409.3_Missense_Mutation_p.S2783L|CSMD3_ENST00000343508.3_Missense_Mutation_p.S2813L|CSMD3_ENST00000455883.2_Missense_Mutation_p.S2684L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2853	Sushi 18.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TATCCTCACTGAAGAACCAAT	0.408										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			8	21					0	0	1	0	0	A	113308118	G	A	113308118	3	1	91	1	0	0	0	0	1	0	0	0	3971	1294	45	2	2637	2	CSMD3	8	113308118	Missense_Mutation	SNP	G	TCGA-EJ-8468-01A-21D-2395-08	13867869	113308118	33055904	12	4941											
LINGO2	158038	broad.mit.edu	37	chr9	27948977	27948977	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctttccctcggctccacaCaaaaaggagaagaaaacaaa	17	5	7	12	1	0	2	0	0	0	2	3	3	2	2	3	2	1	1	3	2	6	1			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr9:27948977C>T	ENST00000379992.2	-	6	2142	c.1693G>A	c.(1693-1695)Gtg>Atg	p.V565M	LINGO2_ENST00000308675.3_Missense_Mutation_p.V565M	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	565						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		CGGCTCCACACAAAAAGGAGA	0.453													6	67					0	0	1	0	0	T	27948977	C	T	27948977	3	4	91	1	0	0	0	0	1	0	0	0	8856	478	17	2	131	2	LINGO2	9	27948977	Missense_Mutation	SNP	C	TCGA-EJ-8468-01A-21D-2395-08		27948977	113264454	13	4942											
HOXC4	3221	broad.mit.edu	37	chr12	54448666	54448666	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ataacggaggggaacccaagCgctcgaggacagcctatacc	13	4	12	12	3	0	0	0	0	0	0	1	4	0	3	3	4	5	1	3	4	5	3			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr12:54448666C>T	ENST00000430889.2	+	2	518	c.472C>T	c.(472-474)Cgc>Tgc	p.R158C	HOXC4_ENST00000303406.4_Missense_Mutation_p.R158C	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN	homeobox C4	158			R -> L (in dbSNP:rs11835301).			nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						GGAACCCAAGCGCTCGAGGAC	0.577													5	32					0	0	1	0	0	T	54448666	C	T	54448666	3	4	91	1	0	0	0	0	1	0	0	0	7354	768	27	1	478	1	HOXC4	12	54448666	Missense_Mutation	SNP	C	TCGA-EJ-8468-01A-21D-2395-08		54448666	79403229	14	4943											
FOXA1	3169	broad.mit.edu	37	chr14	38061623	38061623	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcccaggccattcatggaGgccgcctgctgcgcacccat	6	6	13	16	2	1	0	1	0	0	0	1	1	1	1	5	4	2	2	5	4	0	1			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr14:38061623G>A	ENST00000250448.2	-	2	427	c.366C>T	c.(364-366)gcC>gcT	p.A122A	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Silent_p.A89A	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	122					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		CATTCATGGAGGCCGCCTGCT	0.746													7	8					0	0	1	0	0	A	38061623	G	A	38061623	2	1	91	1	0	0	0	0	0	0	0	1	6022	987	35	2		2	FOXA1	14	38061623	Silent	SNP	G	TCGA-EJ-8468-01A-21D-2395-08		38061623	69287917	15	4944											
MAP1A	4130	broad.mit.edu	37	chr15	43821147	43821147	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggaccactgggggcccatgCcctgtgactgatgagacacc	8	6	14	13	0	0	3	0	3	0	1	0	5	0	4	4	3	1	0	4	3	0	0			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr15:43821147C>A	ENST00000382031.1	+	5	8221	c.8190C>A	c.(8188-8190)tgC>tgA	p.C2730*	MAP1A_ENST00000300231.5_Nonsense_Mutation_p.C2492*|MAP1A_ENST00000399453.1_Nonsense_Mutation_p.C2492*			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2492						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GGGGCCCATGCCCTGTGACTG	0.597													24	65					1.10923e-09	1.2941e-09	1	1	0	A	43821147	C	A	43821147	4	1	91	1	0	0	0	0	0	1	0	0	9277	747	26	4	7478	4	MAP1A	15	43821147	Nonsense_Mutation	SNP	C	TCGA-EJ-8468-01A-21D-2395-08		43821147	58710245	16	4945											
RBPMS2	348093	broad.mit.edu	37	chr15	65041629	65041629	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgttctccacctactcaCgttcagcgcattcttggccg	6	12	7	16	3	4	0	2	0	2	0	5	0	4	0	4	1	2	3	4	1	1	5			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr15:65041629C>T	ENST00000300069.4	-	4	535		c.e4+1		RBPMS2_ENST00000560606.1_Splice_Site	NM_194272.1	NP_919248.1	Q6ZRY4	RBPS2_HUMAN	RNA binding protein with multiple splicing 2								nucleic acid binding|nucleotide binding			breast(1)|large_intestine(3)|lung(3)|prostate(1)	8						CACCTACTCACGTTCAGCGCA	0.517													18	68					0	0	1	0	0	T	65041629	C	T	65041629	5	4	91	1	0	0	0	0	0	0	1	0	13216	550	19	1	377	1	RBPMS2	15	65041629	Splice_Site	SNP	C	TCGA-EJ-8468-01A-21D-2395-08	21220482	65041629	37489763	17	4946											
THSD4	79875	broad.mit.edu	37	chr15	71535425	71535425	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctatcggcagtacaagctgtGcaacaccaacgtgagtacac	13	7	9	12	2	0	1	0	1	0	0	1	1	0	1	1	1	6	5	1	1	6	3			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr15:71535425G>T	ENST00000355327.3	+	5	1036	c.902G>T	c.(901-903)tGc>tTc	p.C301F	THSD4_ENST00000261862.6_Missense_Mutation_p.C301F			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	301	TSP type-1 1.					proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TACAAGCTGTGCAACACCAAC	0.542													10	39					2.17888e-05	2.34648e-05	1	1	0	T	71535425	G	T	71535425	3	4	91	1	0	0	0	0	1	0	0	0	15938	1319	46	4	916	4	THSD4	15	71535425	Missense_Mutation	SNP	G	TCGA-EJ-8468-01A-21D-2395-08	6493796	71535425	30995967	18	4947											
ACSBG1	23205	broad.mit.edu	37	chr15	78471897	78471897	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcctcgagcctcacctgtaCagccggtagttgtagggact	8	9	12	12	2	1	0	1	0	0	0	2	2	1	1	4	2	4	4	4	2	3	4			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr15:78471897C>G	ENST00000258873.4	-	10	1684	c.1479G>C	c.(1477-1479)ctG>ctC	p.L493L	ACSBG1_ENST00000560817.1_Silent_p.L251L|ACSBG1_ENST00000541759.1_Silent_p.L251L	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	493					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						CTCACCTGTACAGCCGGTAGT	0.597													9	24					0	0	1	0	0	G	78471897	C	G	78471897	2	3	91	1	0	0	0	0	0	0	0	1	173	465	17	4		4	ACSBG1	15	78471897	Silent	SNP	C	TCGA-EJ-8468-01A-21D-2395-08	6936472	78471897	24059495	19	4948											
ZFPM1	161882	broad.mit.edu	37	chr16	88598619	88598619	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gccccagcgccagctccctgGagatccacatgcgcagccac	8	4	10	19	2	0	1	0	0	0	1	2	2	2	1	6	1	4	2	6	1	0	0			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr16:88598619G>A	ENST00000319555.3	+	7	1244	c.922G>A	c.(922-924)Gag>Aag	p.E308K		NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	308					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|transcription factor binding|zinc ion binding			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		CAGCTCCCTGGAGATCCACAT	0.706													12	31					0	0	1	0	0	A	88598619	G	A	88598619	3	1	91	1	0	0	0	0	1	0	0	0	17715	1175	41	2	948	2	ZFPM1	16	88598619	Missense_Mutation	SNP	G	TCGA-EJ-8468-01A-21D-2395-08		88598619	1756134	20	4949											
SPOP	8405	broad.mit.edu	37	chr17	47696425	47696425	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctacggatgaatttcttgAatccccagtctttgccttgc	7	15	7	12	1	3	2	0	2	3	0	4	3	4	3	3	1	3	0	3	1	3	5			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr17:47696425A>G	ENST00000393331.3	-	7	868	c.398T>C	c.(397-399)tTc>tCc	p.F133S	SPOP_ENST00000504102.1_Missense_Mutation_p.F133S|SPOP_ENST00000503676.1_Missense_Mutation_p.F133S|SPOP_ENST00000393328.2_Missense_Mutation_p.F133S|SPOP_ENST00000347630.2_Missense_Mutation_p.F133S	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	133	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.F133C(3)|p.F133S(2)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						GAATTTCTTGAATCCCCAGTC	0.448										Prostate(2;0.17)			43	95					0	0	1	0	0	G	47696425	A	G	47696425	3	3	91	1	0	0	0	0	1	0	0	0	15140	246	9	3	750	3	SPOP	17	47696425	Missense_Mutation	SNP	A	TCGA-EJ-8468-01A-21D-2395-08		47696425	33498785	21	4950											
APPBP2	10513	broad.mit.edu	37	chr17	58529353	58529353	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctacttcataatcttcttgAccaagaagttgttctttaat	11	17	5	8	0	4	2	1	1	3	1	4	2	4	2	1	0	1	3	1	0	5	9			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr17:58529353A>G	ENST00000083182.3	-	12	1679	c.1392T>C	c.(1390-1392)ggT>ggC	p.G464G		NM_006380.2	NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2	464					intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			AATCTTCTTGACCAAGAAGTT	0.323													4	61					0	0	1	0	0	G	58529353	A	G	58529353	2	3	91	1	0	0	0	0	0	0	0	1	813	262	10	3		3	APPBP2	17	58529353	Silent	SNP	A	TCGA-EJ-8468-01A-21D-2395-08	10832928	58529353	22665857	22	4951											
TANC2	26115	broad.mit.edu	37	chr17	61432335	61432335	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcagttctcatctcaagacCctcagtcaagggtcctatct	9	12	6	14	0	6	1	5	0	3	1	9	1	7	1	2	1	0	1	2	1	3	2			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr17:61432335C>A	ENST00000424789.2	+	12	1948	c.1944C>A	c.(1942-1944)acC>acA	p.T648T	TANC2_ENST00000389520.4_Silent_p.T648T	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	648							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						ATCTCAAGACCCTCAGTCAAG	0.398													33	110					5.09552e-08	5.7841e-08	1	1	0	A	61432335	C	A	61432335	2	1	91	1	0	0	0	0	0	0	0	1	15602	610	22	4		4	TANC2	17	61432335	Silent	SNP	C	TCGA-EJ-8468-01A-21D-2395-08	2902982	61432335	19762875	23	4952											
ZNF559	84527	broad.mit.edu	37	chr19	9453237	9453237	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aactcttcacatcttactgtAcatatgagaactcacactgg	13	12	5	11	0	4	1	2	1	2	1	4	2	4	1	0	1	4	1	0	1	5	4			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr19:9453237A>G	ENST00000393883.2	+	6	1758	c.1110A>G	c.(1108-1110)gtA>gtG	p.V370V	ZNF177_ENST00000605471.1_Intron|ZNF177_ENST00000602738.1_Intron|ZNF177_ENST00000602856.1_Intron|ZNF559_ENST00000587557.1_Silent_p.V434V|ZNF559_ENST00000317221.7_3'UTR|ZNF559_ENST00000603380.1_Silent_p.V370V|ZNF559_ENST00000586255.1_Intron|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000538743.1_Silent_p.V290V|ZNF177_ENST00000446085.4_Intron	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	370					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						ATCTTACTGTACATATGAGAA	0.388													4	44					0	0	1	0	0	G	9453237	A	G	9453237	2	3	91	1	0	0	0	0	0	0	0	1	18047	378	14	3		3	ZNF559	19	9453237	Silent	SNP	A	TCGA-EJ-8468-01A-21D-2395-08		9453237	49675746	24	4953											
ZNF799	90576	broad.mit.edu	37	chr19	12501393	12501393	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttttccagtgagtcttttTatgtctatgcaaggaactga	9	18	8	6	0	2	2	0	2	2	0	3	3	3	3	1	1	2	1	1	1	4	7			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr19:12501393T>C	ENST00000419318.1	-	4	2472	c.1723A>G	c.(1723-1725)Aaa>Gaa	p.K575E	ZNF799_ENST00000430385.3_Missense_Mutation_p.K607E|CTD-3105H18.14_ENST00000435033.1_Intron			Q96GE5	ZN799_HUMAN	zinc finger protein 799	607					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TGAGTCTTTTTATGTCTATGC	0.398													31	91					0	0	1	0	0	C	12501393	T	C	12501393	3	2	91	1	0	0	0	0	1	0	0	0	18215	1763	61	3	116	3	ZNF799	19	12501393	Missense_Mutation	SNP	T	TCGA-EJ-8468-01A-21D-2395-08	3048156	12501393	46627590	25	4954											
EMR2	30817	broad.mit.edu	37	chr19	14877173	14877173	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtggcatgggttttgtcCggaggtgcattcattcacat	6	14	13	8	1	2	0	2	0	0	0	3	1	3	1	1	4	1	4	1	4	0	4			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr19:14877173C>T	ENST00000315576.3	-	7	959	c.508G>A	c.(508-510)Gga>Aga	p.G170R	EMR2_ENST00000595839.1_Intron|EMR2_ENST00000594294.1_Intron|EMR2_ENST00000392965.3_Missense_Mutation_p.G170R|EMR2_ENST00000601345.1_Missense_Mutation_p.G170R|EMR2_ENST00000392967.2_Missense_Mutation_p.G170R|EMR2_ENST00000346057.1_Intron|EMR2_ENST00000353005.1_Intron|EMR2_ENST00000392964.3_Intron|EMR2_ENST00000594076.1_Intron|EMR2_ENST00000596991.2_Missense_Mutation_p.G170R|EMR2_ENST00000353876.1_Intron	NM_013447.2	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	170	EGF-like 4; calcium-binding (Potential).				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						GGGTTTTGTCCGGAGGTGCAT	0.622													20	64					0	0	1	0	0	T	14877173	C	T	14877173	3	4	91	1	0	0	0	0	1	0	0	0	5133	661	23	1	2023	1	EMR2	19	14877173	Missense_Mutation	SNP	C	TCGA-EJ-8468-01A-21D-2395-08	2375780	14877173	44251810	26	4955											
MYO9B	4650	broad.mit.edu	37	chr19	17311626	17311626	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcaagtacctggacgagttCctgctcaacaaggtgggatc	10	9	11	11	1	2	0	2	0	0	0	4	3	3	2	2	3	3	3	2	3	4	2			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr19:17311626C>A	ENST00000595618.1	+	26	4703	c.4551C>A	c.(4549-4551)ttC>ttA	p.F1517L	MYO9B_ENST00000397274.2_Missense_Mutation_p.F1517L|MYO9B_ENST00000594824.1_Missense_Mutation_p.F1517L	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	1517	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						TGGACGAGTTCCTGCTCAACA	0.552													20	53					1.15919e-05	1.28121e-05	1	1	0	A	17311626	C	A	17311626	3	1	91	1	0	0	0	0	1	0	0	0	10133	854	30	4	4649	4	MYO9B	19	17311626	Missense_Mutation	SNP	C	TCGA-EJ-8468-01A-21D-2395-08	2434453	17311626	41817357	27	4956											
ZNF208	7757	broad.mit.edu	37	chr19	22155727	22155727	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccataaggtttgaggaccaGttgaaagctttgccacattc	11	12	9	9	0	0	2	0	2	0	0	2	3	1	3	3	2	2	3	3	2	2	5			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr19:22155727G>C	ENST00000397126.4	-	4	2257	c.2109C>G	c.(2107-2109)aaC>aaG	p.N703K	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTGAGGACCAGTTGAAAGCTT	0.378													9	42					0	0	1	0	0	C	22155727	G	C	22155727	3	2	91	1	0	0	0	0	1	0	0	0	17824	1020	36	4	1737	4	ZNF208	19	22155727	Missense_Mutation	SNP	G	TCGA-EJ-8468-01A-21D-2395-08	4844101	22155727	36973256	28	4957											
ZC3H4	23211	broad.mit.edu	37	chr19	47570989	47570989	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcccttctggaggcgggggtCccccagcccactgctgctca	4	8	12	17	1	2	0	1	0	1	0	4	1	4	1	4	4	3	2	4	4	0	1			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr19:47570989C>A	ENST00000253048.5	-	15	2573	c.2536G>T	c.(2536-2538)Gac>Tac	p.D846Y	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	846							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		AGGCGGGGGTCCCCCAGCCCA	0.682													6	13					0.0215528	0.0215528	1	1	0	A	47570989	C	A	47570989	3	1	91	1	0	0	0	0	1	0	0	0	17629	855	30	4	1379	4	ZC3H4	19	47570989	Missense_Mutation	SNP	C	TCGA-EJ-8468-01A-21D-2395-08	25415262	47570989	11557994	29	4958											
MTMR3	8897	broad.mit.edu	37	chr22	30416351	30416351	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtggggtctgtggtgcatagGacttcccttggcagcactct	5	12	14	10	0	2	0	0	0	2	0	3	1	3	1	1	5	2	3	1	5	1	3			TCGA-EJ-8468-01A-21D-2395-08	TCGA-EJ-8468-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3dfed002-b5bd-4fb8-abad-1fcd74db1b68	dc7c3b1b-f5f0-414c-8b07-2338277264c3	g.chr22:30416351G>A	ENST00000333027.3	+	17	3031	c.2703G>A	c.(2701-2703)agG>agA	p.R901R	MTMR3_ENST00000401950.2_Silent_p.R901R|MTMR3_ENST00000351488.3_Silent_p.R901R|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000406629.1_Silent_p.R901R|MTMR3_ENST00000323630.5_Silent_p.R765R	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	901					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			TGGTGCATAGGACTTCCCTTG	0.562													17	51					0	0	1	0	0	A	30416351	G	A	30416351	2	1	91	1	0	0	0	0	0	0	0	1	9993	1165	41	2		2	MTMR3	22	30416351	Silent	SNP	G	TCGA-EJ-8468-01A-21D-2395-08		30416351	20888215	30	4959											
PI4KB	5298	broad.mit.edu	37	chr1	151278805	151278805	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtggtgtcaaagttttcaCattcaaggacttccacataa	12	13	8	8	0	3	0	3	0	0	0	4	1	4	1	1	3	0	1	1	3	3	5			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr1:151278805C>A	ENST00000368875.2	-	6	1833	c.1253G>T	c.(1252-1254)tGt>tTt	p.C418F	PI4KB_ENST00000529142.1_Missense_Mutation_p.C74F|PI4KB_ENST00000368872.1_Missense_Mutation_p.C391F|PI4KB_ENST00000271657.5_Missense_Mutation_p.C418F|PI4KB_ENST00000368873.1_Missense_Mutation_p.C406F|PI4KB_ENST00000368874.4_Missense_Mutation_p.C391F	NM_002651.2	NP_002642.1	Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	406					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AAAGTTTTCACATTCAAGGAC	0.493													4	93					0.00024832	0.000268186	0.150653	1	0	A	151278805	C	A	151278805	3	1	92	1	0	0	0	0	1	0	0	0	11922	478	17	4	1265	4	PI4KB	1	151278805	Missense_Mutation	SNP	C	TCGA-EJ-8469-01A-11D-2395-08		151278805	97971816	1	4960											
RPTN	126638	broad.mit.edu	37	chr1	152128689	152128689	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttgtctgtccgtctgacCgtagtgggaactctggcctt	4	14	12	11	2	4	1	0	1	4	0	5	2	5	2	3	2	1	1	3	2	2	3			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr1:152128689C>T	ENST00000316073.3	-	3	950	c.886G>A	c.(886-888)Ggt>Agt	p.G296S		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	296	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TCCGTCTGACCGTAGTGGGAA	0.498													7	981					0	0	0.184627	0	0	T	152128689	C	T	152128689	3	4	92	1	0	0	0	0	1	0	0	0	13716	652	23	1	1472	1	RPTN	1	152128689	Missense_Mutation	SNP	C	TCGA-EJ-8469-01A-11D-2395-08	849884	152128689	97121932	2	4961											
PRG4	10216	broad.mit.edu	37	chr1	186276640	186276640	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaacctgcacccaccaccAccaagaagcctgcacccacc	13	2	6	20	0	0	1	0	0	0	1	0	2	0	2	8	1	4	2	8	1	3	0			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr1:186276640A>C	ENST00000445192.2	+	7	1834	c.1789A>C	c.(1789-1791)Acc>Ccc	p.T597P	PRG4_ENST00000367483.4_Missense_Mutation_p.T556P|PRG4_ENST00000367486.3_Missense_Mutation_p.T554P|PRG4_ENST00000367485.4_Missense_Mutation_p.T504P|PRG4_ENST00000367484.3_Intron	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	597	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	p.T597P(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACCCACCACCACCAAGAAGCC	0.652													8	197					0	0	0.654019	0	0	C	186276640	A	C	186276640	3	2	92	1	0	0	0	0	1	0	0	0	12533	159	6	5	1811	5	PRG4	1	186276640	Missense_Mutation	SNP	A	TCGA-EJ-8469-01A-11D-2395-08	34147951	186276640	62973981	3	4962											
SOX13	9580	broad.mit.edu	37	chr1	204082093	204082093	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctggccctggatggcgttgGcaccatggtgaactgcacca	7	8	14	12	1	0	1	0	1	0	0	0	2	0	2	3	5	2	4	3	5	1	1			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr1:204082093G>A	ENST00000367204.1	+	2	159	c.50G>A	c.(49-51)gGc>gAc	p.G17D	SOX13_ENST00000367203.4_3'UTR	NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	17					anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			GATGGCGTTGGCACCATGGTG	0.612													4	88					0	0	0.150653	0	0	A	204082093	G	A	204082093	3	1	92	1	0	0	0	0	1	0	0	0	14998	1203	42	2	52	2	SOX13	1	204082093	Missense_Mutation	SNP	G	TCGA-EJ-8469-01A-11D-2395-08	17805453	204082093	45168528	4	4963											
ADCY3	109	broad.mit.edu	37	chr2	25046161	25046161	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctctcctctgtgtagaagtCagcaaagttgggcagggagg	9	9	15	8	0	3	1	1	0	2	1	4	2	3	2	1	3	1	5	1	3	3	2			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr2:25046161C>T	ENST00000260600.5	-	17	3651	c.2800G>A	c.(2800-2802)Gac>Aac	p.D934N	ADCY3_ENST00000405392.1_Missense_Mutation_p.D521N	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	934					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GTGTAGAAGTCAGCAAAGTTG	0.473													4	103					0	0	0.150653	0	0	T	25046161	C	T	25046161	3	4	92	1	0	0	0	0	1	0	0	0	294	826	29	2	654	2	ADCY3	2	25046161	Missense_Mutation	SNP	C	TCGA-EJ-8469-01A-11D-2395-08		25046161	218153212	5	4964											
EIF2AK3	9451	broad.mit.edu	37	chr2	88913315	88913315	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccactgctttttaccatgaTtttcaggatccaaggcagca	10	12	7	12	0	1	1	1	1	0	0	2	2	2	2	3	2	3	3	3	2	2	5			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr2:88913315T>C	ENST00000303236.3	-	2	666	c.365A>G	c.(364-366)aAt>aGt	p.N122S	EIF2AK3_ENST00000419748.1_5'UTR	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	122					activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						TTTACCATGATTTTCAGGATC	0.358													94	128					0	0	0.870114	0	0	C	88913315	T	C	88913315	3	2	92	1	0	0	0	0	1	0	0	0	5024	1493	52	3	3049	3	EIF2AK3	2	88913315	Missense_Mutation	SNP	T	TCGA-EJ-8469-01A-11D-2395-08	63867154	88913315	154286058	6	4965											
ZAP70	7535	broad.mit.edu	37	chr2	98351892	98351892	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagatggctgggggcgggcCgctgcacaagttcctggtcg	5	7	19	10	3	0	1	0	0	0	1	2	2	1	1	2	6	1	4	2	6	1	1			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr2:98351892C>T	ENST00000264972.5	+	10	1477	c.1262C>T	c.(1261-1263)cCg>cTg	p.P421L	ZAP70_ENST00000451498.2_Missense_Mutation_p.P114L|ZAP70_ENST00000442208.1_Missense_Mutation_p.P295L|ZAP70_ENST00000463643.1_3'UTR	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	421	Protein kinase.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity	p.P421Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						GGGGGCGGGCCGCTGCACAAG	0.682													5	206					0	0	0.217242	0	0	T	98351892	C	T	98351892	3	4	92	1	0	0	0	0	1	0	0	0	17574	652	23	1	1292	1	ZAP70	2	98351892	Missense_Mutation	SNP	C	TCGA-EJ-8469-01A-11D-2395-08	9438577	98351892	144847481	7	4966											
TTN	7273	broad.mit.edu	37	chr2	179592350	179592350	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagtacaagagtcgctaccaAcatcattggtaacatggcaa	15	9	8	9	1	1	1	1	0	0	1	2	1	1	1	1	2	4	4	1	2	7	5			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr2:179592350A>G	ENST00000589042.1	-	68	20179	c.19955T>C	c.(19954-19956)gTt>gCt	p.V6652A	TTN_ENST00000342992.6_Missense_Mutation_p.V5408A|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.V6335A|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6335	Ig-like 48.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCGCTACCAACATCATTGGT	0.408													180	296					0	0	0.870114	0	0	G	179592350	A	G	179592350	3	3	92	1	0	0	0	0	1	0	0	0	16797	43	2	3	84754	3	TTN	2	179592350	Missense_Mutation	SNP	A	TCGA-EJ-8469-01A-11D-2395-08	81240458	179592350	63607023	8	4967											
AGFG1	3267	broad.mit.edu	37	chr2	228388627	228388627	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caacactgcacttaaataagGgcacacctagtcaggtgagt	14	8	9	10	0	1	1	1	1	0	0	1	1	1	1	1	2	2	2	1	2	5	3			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr2:228388627G>A	ENST00000310078.7	+	4	786	c.526G>A	c.(526-528)Ggc>Agc	p.G176S	AGFG1_ENST00000409171.1_Missense_Mutation_p.G176S|AGFG1_ENST00000409315.1_Missense_Mutation_p.G176S|AGFG1_ENST00000486932.1_3'UTR|AGFG1_ENST00000409979.2_Missense_Mutation_p.G176S|AGFG1_ENST00000373671.3_Missense_Mutation_p.G176S	NM_001135188.1|NM_004504.4	NP_001128660.1|NP_004495.2	P52594	AGFG1_HUMAN	ArfGAP with FG repeats 1	176					cell differentiation|mRNA export from nucleus|multicellular organismal development|regulation of ARF GTPase activity|spermatogenesis	cytoplasmic membrane-bounded vesicle|Golgi apparatus|nuclear pore	ARF GTPase activator activity|DNA binding|protein binding|RNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						CTTAAATAAGGGCACACCTAG	0.433													23	173					0	0	0.654019	0	0	A	228388627	G	A	228388627	3	1	92	1	0	0	0	0	1	0	0	0	377	1232	43	2	540	2	AGFG1	2	228388627	Missense_Mutation	SNP	G	TCGA-EJ-8469-01A-11D-2395-08	48796277	228388627	14810746	9	4968											
ITGA9	3680	broad.mit.edu	37	chr3	37512575	37512575	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggctgtgtttaagtgccGtgttcacaccaaccctgacc	7	11	11	12	1	1	1	1	1	0	0	1	1	1	1	4	2	2	3	4	2	2	3			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr3:37512575G>A	ENST00000264741.5	+	2	519	c.263G>A	c.(262-264)cGt>cAt	p.R88H	ITGA9_ENST00000422441.1_Missense_Mutation_p.R88H	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	88					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		TTTAAGTGCCGTGTTCACACC	0.532													77	124					0	0	0.870114	0	0	A	37512575	G	A	37512575	3	1	92	1	0	0	0	0	1	0	0	0	7927	1145	40	1	269	1	ITGA9	3	37512575	Missense_Mutation	SNP	G	TCGA-EJ-8469-01A-11D-2395-08		37512575	160509855	10	4969											
PTPRG	5793	broad.mit.edu	37	chr3	62142813	62142813	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctgggcagctattatcggtAcacaggttccttgaccacac	9	10	9	13	1	0	1	0	1	0	0	2	1	1	1	3	3	2	4	3	3	3	5			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr3:62142813A>G	ENST00000474889.1	+	7	1132	c.755A>G	c.(754-756)tAc>tGc	p.Y252C	PTPRG_ENST00000295874.10_Missense_Mutation_p.Y252C	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	252	Alpha-carbonic anhydrase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		TATTATCGGTACACAGGTTCC	0.512													7	162					0	0	0.248553	0	0	G	62142813	A	G	62142813	3	3	92	1	0	0	0	0	1	0	0	0	12854	391	14	3	781	3	PTPRG	3	62142813	Missense_Mutation	SNP	A	TCGA-EJ-8469-01A-11D-2395-08	24630238	62142813	135879617	11	4970											
PIK3CA	5290	broad.mit.edu	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcctctctctgaaatcactGagcaggagaaagattttcta	13	12	7	9	0	4	4	1	2	3	2	6	5	5	4	1	1	1	1	1	1	3	3	rs104886003		TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			4	116					0	0	0.184627	0	0	A	178936091	G	A	178936091	3	1	92	1	0	0	0	0	1	0	0	0	11961	1291	45	2	1667	2	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-EJ-8469-01A-11D-2395-08	116793278	178936091	19086339	12	4971											
ABCC5	10057	broad.mit.edu	37	chr3	183667864	183667864	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cccacacagaagaacaccagGataacgttctggatgaacat	16	6	8	11	1	1	3	0	1	1	2	1	5	1	5	2	2	3	1	2	2	4	2			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr3:183667864G>A	ENST00000334444.6	-	21	3234	c.2994C>T	c.(2992-2994)atC>atT	p.I998I	ABCC5_ENST00000265586.6_Silent_p.I998I	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	998	ABC transmembrane type-1 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			AGAACACCAGGATAACGTTCT	0.507													22	51					0	0	0.654019	0	0	A	183667864	G	A	183667864	2	1	92	1	0	0	0	0	0	0	0	1	56	1164	41	2		2	ABCC5	3	183667864	Silent	SNP	G	TCGA-EJ-8469-01A-11D-2395-08	4731773	183667864	14354566	13	4972											
ZFYVE28	57732	broad.mit.edu	37	chr4	2306052	2306052	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctgaggcgcctcgtgagccGaggggctcccagcatgcagc	6	5	15	15	3	0	2	0	2	0	0	2	3	1	2	4	3	4	3	4	3	0	0	rs117669252	byFrequency	TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr4:2306052G>A	ENST00000290974.2	-	8	2354	c.2015C>T	c.(2014-2016)tCg>tTg	p.S672L	RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.S602L|ZFYVE28_ENST00000511071.1_Missense_Mutation_p.S642L	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	672			S -> P (in dbSNP:rs661301).		negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	p.S672L(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						CTCGTGAGCCGAGGGGCTCCC	0.667													125	100					0	0	0.870114	0	0	A	2306052	G	A	2306052	3	1	92	1	0	0	0	0	1	0	0	0	17728	1059	37	1	672	1	ZFYVE28	4	2306052	Missense_Mutation	SNP	G	TCGA-EJ-8469-01A-11D-2395-08		2306052	188848224	14	4973											
CFI	3426	broad.mit.edu	37	chr4	110662159	110662159	+	Frame_Shift_Del	DEL	C	C	-																															ctctggttttccacagttttCcccccaactcacaacacccc																								rs7437875	byFrequency	TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr4:110662159delC	ENST00000394634.2	-	13	1849	c.1642delG	c.(1642-1644)aafs	p.E548fs	CFI_ENST00000512148.1_Frame_Shift_Del_p.E541fs|CFI_ENST00000394635.3_Frame_Shift_Del_p.E556fs	NM_000204.3	NP_000195.2	P05156	CFAI_HUMAN	complement factor I	548	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		CCACAGTTTTCCCCCCAACTC	0.463													7	746	---	---	---	---						-	110662159	C	-	110662159	7	5	92	1	0	1	0	1	0	0	0	0	3311	864	30	0	113	0	CFI	4	110662159	Frame_Shift_Del	DEL	C	TCGA-EJ-8469-01A-11D-2395-08	108356107	110662159	80492117	15	4974											
SV2C	22987	broad.mit.edu	37	chr5	75490817	75490817	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcagacaaagtgggaaggaaAcagtctcttctgatttgcat	13	10	11	7	0	2	2	0	1	2	1	3	4	2	4	0	2	2	2	0	2	3	2			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr5:75490817A>G	ENST00000502798.2	+	3	1096	c.654A>G	c.(652-654)aaA>aaG	p.K218K	SV2C_ENST00000322285.7_Silent_p.K218K	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	218					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		TGGGAAGGAAACAGTCTCTTC	0.468													149	249					0	0	0.870114	0	0	G	75490817	A	G	75490817	2	3	92	1	0	0	0	0	0	0	0	1	15475	40	2	3		3	SV2C	5	75490817	Silent	SNP	A	TCGA-EJ-8469-01A-11D-2395-08		75490817	105424443	16	4975											
PCDHA9	0	broad.mit.edu	37	chr5	140229647	140229647	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggtgtacgcgctgcagccgTtggaccacgaggagctggag	8	6	17	10	4	0	0	0	0	0	0	0	4	0	3	2	4	4	5	2	4	1	2			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr5:140229647T>C	ENST00000378122.3	+	1	2291	c.1567T>C	c.(1567-1569)Ttg>Ctg	p.L523L	PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Silent_p.L523L	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGCAGCCGTTGGACCACGA	0.682													7	365					0	0	0.38729	0	0	C	140229647	T	C	140229647	2	2	92	1	0	0	0	0	0	0	0	1	11578	1722	60	3		3	PCDHA9	5	140229647	Silent	SNP	T	TCGA-EJ-8469-01A-11D-2395-08	64738830	140229647	40685613	17	4976											
PCDHGC5	0	broad.mit.edu	37	chr5	140869501	140869501	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacccttatctctgtcatcGtgctggacatcaatgataat	10	13	6	12	1	3	1	2	1	1	0	5	2	3	2	2	1	1	1	2	1	3	2			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr5:140869501G>A	ENST00000252087.1	+	1	694	c.694G>A	c.(694-696)Gtg>Atg	p.V232M	PCDHGB7_ENST00000398594.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN		232	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTGTCATCGTGCTGGACAT	0.557													102	154					0	0	0.870114	0	0	A	140869501	G	A	140869501	3	1	92	1	0	0	0	0	1	0	0	0	11618	1145	40	1	696	1	PCDHGC5	5	140869501	Missense_Mutation	SNP	G	TCGA-EJ-8469-01A-11D-2395-08	639854	140869501	40045759	18	4977											
PROP1	5626	broad.mit.edu	37	chr5	177419761	177419761	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggggagcatgggagggggTggggggcagggcagatggcc	7	3	26	5	0	0	1	0	0	0	1	0	3	0	3	1	10	1	3	1	10	0	0			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr5:177419761T>G	ENST00000308304.2	-	3	938	c.630A>C	c.(628-630)ccA>ccC	p.P210P		NM_006261.4	NP_006252.3	O75360	PROP1_HUMAN	PROP paired-like homeobox 1	210					central nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(9)|stomach(1)	13	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGGAGGGGGTGGGGGGCAGG	0.637													5	15					0	0	0.479597	0	0	G	177419761	T	G	177419761	2	3	92	1	0	0	0	0	0	0	0	1	12609	1683	59	5		5	PROP1	5	177419761	Silent	SNP	T	TCGA-EJ-8469-01A-11D-2395-08	36550260	177419761	3495499	19	4978											
DSE	29940	broad.mit.edu	37	chr6	116757925	116757925	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagatactgtcccgagtccGgaacacagctagctttagga	11	8	11	11	2	0	1	0	0	0	1	2	4	2	3	2	2	4	3	2	2	4	4			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr6:116757925G>A	ENST00000331677.3	+	7	2738	c.2294G>A	c.(2293-2295)cGg>cAg	p.R765Q	DSE_ENST00000452085.3_Missense_Mutation_p.R765Q|DSE_ENST00000537543.1_Missense_Mutation_p.R784Q|DSE_ENST00000359564.2_Missense_Mutation_p.R765Q			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	765					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		TCCCGAGTCCGGAACACAGCT	0.478													7	173					0	0	0.307466	0	0	A	116757925	G	A	116757925	3	1	92	1	0	0	0	0	1	0	0	0	4800	1116	39	1	2312	1	DSE	6	116757925	Missense_Mutation	SNP	G	TCGA-EJ-8469-01A-11D-2395-08		116757925	54357142	20	4979											
TMEM184A	202915	broad.mit.edu	37	chr7	1586662	1586663	+	In_Frame_Ins	INS	-	-	GCC																															ctcccgccggagccgccgctINSggggtgggtgccgggcctgg																								rs3837151	by1000genomes	TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr7:1586662_1586663insGCC	ENST00000297477.5	-	9	1483_1484	c.1167_1168insGGC	c.(1165-1170)ccgcgg>ccGGCgcgg	p.389_390PR>PAR		NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	389						integral to membrane				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GAGCCGCCGCTGGGGTGGGTGC	0.703													21	46	---	---	---	---						GCC	1586663	-	GCC	1586662	7	5	92	1	0	1	1	0	0	0	0	0	16164	1580	55	0	77	0	TMEM184A	7	1586662	In_Frame_Ins	INS	-	TCGA-EJ-8469-01A-11D-2395-08		1586662	157552001	21	4980											
MUC17	140453	broad.mit.edu	37	chr7	100678305	100678305	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agccagttcacctcctccaaCtgctgaagttaccagcatgc	10	9	7	15	0	1	1	1	1	0	0	3	1	3	1	5	0	6	4	5	0	3	2			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr7:100678305C>T	ENST00000306151.4	+	3	3672	c.3608C>T	c.(3607-3609)aCt>aTt	p.T1203I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1203	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCTCCTCCAACTGCTGAAGTT	0.517													19	626					0	0	0.575678	0	0	T	100678305	C	T	100678305	3	4	92	1	0	0	0	0	1	0	0	0	10022	565	20	2	3618	2	MUC17	7	100678305	Missense_Mutation	SNP	C	TCGA-EJ-8469-01A-11D-2395-08	99091643	100678305	58460358	22	4981											
SOX7	83595	broad.mit.edu	37	chr8	10584117	10584117	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgtgctgcaggcgcagccGctccgcctcgtccacgtacg	5	7	12	17	6	0	0	0	0	0	0	3	0	2	0	4	1	4	5	4	1	1	1			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr8:10584117G>A	ENST00000304501.1	-	2	376	c.298C>T	c.(298-300)Cgg>Tgg	p.R100W	SOX7_ENST00000554914.1_Missense_Mutation_p.R152W|SOX7_ENST00000553390.1_Missense_Mutation_p.R152W	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	100					endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		AGGCGCAGCCGCTCCGCCTCG	0.647													50	21					0	0	0.870114	0	0	A	10584117	G	A	10584117	3	1	92	1	0	0	0	0	1	0	0	0	15010	1086	38	1	872	1	SOX7	8	10584117	Missense_Mutation	SNP	G	TCGA-EJ-8469-01A-11D-2395-08		10584117	135779905	23	4982											
ENPP2	0	broad.mit.edu	37	chr8	120608106	120608106	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttgtcctgacgagtttccGcagcataatgatccatccta	9	13	7	12	2	0	2	0	2	0	0	4	3	4	2	4	0	1	3	4	0	2	4	rs142695308		TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr8:120608106G>A	ENST00000259486.6	-	12	1158	c.1109C>T	c.(1108-1110)gCg>gTg	p.A370V	ENPP2_ENST00000427067.2_Intron|ENPP2_ENST00000075322.6_Intron|ENPP2_ENST00000522826.1_Intron	NM_006209.4	NP_006200.3	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	324					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	p.A370V(1)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ACGAGTTTCCGCAGCATAATG	0.443													19	540					0	0	0.639603	0	0	A	120608106	G	A	120608106	3	1	92	1	0	0	0	0	1	0	0	0	5158	1087	38	1	1777	1	ENPP2	8	120608106	Missense_Mutation	SNP	G	TCGA-EJ-8469-01A-11D-2395-08	110023989	120608106	25755916	24	4983											
ZFAT	57623	broad.mit.edu	37	chr8	135614479	135614479	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaggcagaagctctggtTgatggaactggtgaagacca	12	7	15	7	0	1	4	0	2	1	2	1	6	1	6	1	5	2	3	1	5	3	1			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr8:135614479T>C	ENST00000520727.1	-	7	1746	c.1447A>G	c.(1447-1449)Aac>Gac	p.N483D	ZFAT_ENST00000520214.1_Missense_Mutation_p.N483D|ZFAT_ENST00000523399.1_Missense_Mutation_p.N433D|ZFAT_ENST00000520356.1_Missense_Mutation_p.N483D|ZFAT_ENST00000377838.3_Missense_Mutation_p.N495D|ZFAT_ENST00000429442.2_Missense_Mutation_p.N483D	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	495					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			AAGCTCTGGTTGATGGAACTG	0.607													4	118					0	0	0.150653	0	0	C	135614479	T	C	135614479	3	2	92	1	0	0	0	0	1	0	0	0	17690	1812	63	3	2292	3	ZFAT	8	135614479	Missense_Mutation	SNP	T	TCGA-EJ-8469-01A-11D-2395-08	15006373	135614479	10749543	25	4984											
TOP1MT	116447	broad.mit.edu	37	chr8	144398199	144398199	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agattctgcatcgacttctcGaacgtactgggggttgctcg	7	12	12	10	4	2	1	0	0	2	1	5	3	2	1	0	2	4	4	0	2	2	4			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr8:144398199G>A	ENST00000523676.1	-	12	1539	c.1134C>T	c.(1132-1134)ttC>ttT	p.F378F	TOP1MT_ENST00000521193.1_Silent_p.F378F|TOP1MT_ENST00000519148.1_Silent_p.F378F|TOP1MT_ENST00000329245.4_Silent_p.F476F			Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	476					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	TCGACTTCTCGAACGTACTGG	0.607													7	380					0	0	0.27861	0	0	A	144398199	G	A	144398199	2	1	92	1	0	0	0	0	0	0	0	1	16425	1049	37	1		1	TOP1MT	8	144398199	Silent	SNP	G	TCGA-EJ-8469-01A-11D-2395-08	8783720	144398199	1965823	26	4985											
RECQL4	9401	broad.mit.edu	37	chr8	145741718	145741718	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggctcctcgttccatctcCgcttctcgcctccactgctg	3	12	8	18	3	2	0	0	0	2	0	8	0	5	0	5	1	1	4	5	1	0	2			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr8:145741718C>T	ENST00000428558.2	-	5	826	c.785G>A	c.(784-786)cGg>cAg	p.R262Q	RECQL4_ENST00000532237.1_5'UTR	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4	262					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GTTCCATCTCCGCTTCTCGCC	0.672			"N, F, S"			"osteosarcoma, skin basal and sqamous cell"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				8	85					0	0	0.307466	0	0	T	145741718	C	T	145741718	3	4	92	1	0	0	0	0	1	0	0	0	13254	652	23	1	2910	1	RECQL4	8	145741718	Missense_Mutation	SNP	C	TCGA-EJ-8469-01A-11D-2395-08	1343519	145741718	622304	27	4986											
SPINK4	27290	broad.mit.edu	37	chr9	33246623	33246623	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcttccacagcccatctgtGaacacatggtagagtctcca	10	10	7	14	0	3	2	0	1	3	1	5	2	4	2	3	1	2	1	3	1	2	2			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr9:33246623G>A	ENST00000379725.1	+	4	303	c.181G>A	c.(181-183)Gaa>Aaa	p.E61K	SPINK4_ENST00000379723.1_Missense_Mutation_p.E61K|SPINK4_ENST00000379721.3_Missense_Mutation_p.E38K			O60575	ISK4_HUMAN	serine peptidase inhibitor, Kazal type 4	38	Kazal-like.					extracellular region	serine-type endopeptidase inhibitor activity			lung(1)	1			LUSC - Lung squamous cell carcinoma(29;0.00506)			GCCCATCTGTGAACACATGGT	0.577													6	139					0	0	0.248553	0	0	A	33246623	G	A	33246623	3	1	92	1	0	0	0	0	1	0	0	0	15117	1291	45	2	122	2	SPINK4	9	33246623	Missense_Mutation	SNP	G	TCGA-EJ-8469-01A-11D-2395-08		33246623	107966808	28	4987											
HSD17B3	3293	broad.mit.edu	37	chr9	99013718	99013718	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctggatttcatccggtgcGttcaggaaatggcttgggag	8	11	14	8	2	2	0	2	0	0	0	3	3	3	3	2	5	1	2	2	5	1	3	rs115684579	by1000genomes	TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr9:99013718G>A	ENST00000375263.3	-	5	482	c.435C>T	c.(433-435)aaC>aaT	p.N145N	HSD17B3_ENST00000375262.2_Silent_p.N145N	NM_000197.1	NP_000188.1	P37058	DHB3_HUMAN	hydroxysteroid (17-beta) dehydrogenase 3	145					androgen biosynthetic process|male genitalia development	endoplasmic reticulum membrane|microsome	binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)			NADH(DB00157)	CATCCGGTGCGTTCAGGAAAT	0.478													41	53					0	0	0.870114	0	0	A	99013718	G	A	99013718	2	1	92	1	0	0	0	0	0	0	0	1	7426	1136	40	1		1	HSD17B3	9	99013718	Silent	SNP	G	TCGA-EJ-8469-01A-11D-2395-08	65767095	99013718	42199713	29	4988											
CDC14B	8555	broad.mit.edu	37	chr9	99285902	99285902	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgctgaggcccaatcaccGagccaggtctgcagatcctg	8	7	12	14	1	2	2	1	1	1	1	3	3	3	2	4	2	3	3	4	2	1	0			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr9:99285902G>A	ENST00000375241.1	-	10	1503	c.1052C>T	c.(1051-1053)tCg>tTg	p.S351L	CDC14B_ENST00000463569.1_Missense_Mutation_p.S351L|CDC14B_ENST00000375242.3_Missense_Mutation_p.S314L|CDC14B_ENST00000375236.1_Missense_Mutation_p.S351L|CDC14B_ENST00000265659.2_Missense_Mutation_p.S351L|CDC14B_ENST00000375240.3_Missense_Mutation_p.S351L	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	351	B.				activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				CCCAATCACCGAGCCAGGTCT	0.537													13	136					0	0	0.457914	0	0	A	99285902	G	A	99285902	3	1	92	1	0	0	0	0	1	0	0	0	3079	1059	37	1	464	1	CDC14B	9	99285902	Missense_Mutation	SNP	G	TCGA-EJ-8469-01A-11D-2395-08	272184	99285902	41927529	30	4989											
ZFP37	7539	broad.mit.edu	37	chr9	115805120	115805120	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttttctccagtgtgggatCgctgatgtataacaagctgt	8	15	11	7	1	1	1	0	1	1	0	3	2	1	2	1	1	2	4	1	1	3	4			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr9:115805120C>A	ENST00000374227.3	-	4	1805	c.1778G>T	c.(1777-1779)cGa>cTa	p.R593L	ZFP37_ENST00000553380.1_Missense_Mutation_p.R608L|ZFP37_ENST00000555206.1_Missense_Mutation_p.R594L			Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	593						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						AGTGTGGGATCGCTGATGTAT	0.368													4	150					0.150653	0.154467	0.150653	1	0	A	115805120	C	A	115805120	3	1	92	1	0	0	0	0	1	0	0	0	17706	884	31	4	118	4	ZFP37	9	115805120	Missense_Mutation	SNP	C	TCGA-EJ-8469-01A-11D-2395-08	16519218	115805120	25408311	31	4990											
PRKCQ	5588	broad.mit.edu	37	chr10	6498712	6498712	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acatgttctccttgcacattCcaaaatccgcgatcttgata	11	13	5	12	2	2	1	0	1	2	0	5	2	4	1	3	0	1	2	3	0	3	5			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr10:6498712C>A	ENST00000263125.5	-	15	1670	c.1571G>T	c.(1570-1572)gGa>gTa	p.G524V	PRKCQ_ENST00000397176.2_Missense_Mutation_p.G524V|PRKCQ_ENST00000539722.1_Missense_Mutation_p.G399V	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	524	Protein kinase.				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						CTTGCACATTCCAAAATCCGC	0.443													34	59					4.65686e-17	5.38866e-17	0.788014	1	0	A	6498712	C	A	6498712	3	1	92	1	0	0	0	0	1	0	0	0	12567	855	30	4	565	4	PRKCQ	10	6498712	Missense_Mutation	SNP	C	TCGA-EJ-8469-01A-11D-2395-08		6498712	129036035	32	4991											
BMS1	9790	broad.mit.edu	37	chr10	43288455	43288455	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtttcctcccagacccttgcGctcttcctgaacaacaaaag	10	10	6	15	1	1	2	0	1	1	1	4	2	4	2	4	0	3	2	4	0	4	3			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr10:43288455G>A	ENST00000374518.4	+	8	1015	c.952G>A	c.(952-954)Gct>Act	p.A318T		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	318					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AGACCCTTGCGCTCTTCCTGA	0.498													6	287					0	0	0.217242	0	0	A	43288455	G	A	43288455	3	1	92	1	0	0	0	0	1	0	0	0	1471	1087	38	1	978	1	BMS1	10	43288455	Missense_Mutation	SNP	G	TCGA-EJ-8469-01A-11D-2395-08	36789743	43288455	92246292	33	4992											
PRF1	5551	broad.mit.edu	37	chr10	72358622	72358624	+	In_Frame_Del	DEL	CTT	CTT	-																															aaggaggccgtcatcttgtgCttcttcttcttctcctcaca																										TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr10:72358622_72358624delCTT	ENST00000441259.1	-	3	1013_1015	c.853_855delAAG	c.(853-855)del	p.K285del	PRF1_ENST00000373209.2_In_Frame_Del_p.K285del	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	285	MACPF.		Missing (in FHL2).		apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						TCATCTTGTGCTTCTTCTTCTTC	0.591			M			"various leukaemia, lymphoma"	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				9	221	---	---	---	---						-	72358624	CTT	-	72358622	7	5	92	1	0	1	0	1	0	0	0	0	12530	796	28	0	816	0	PRF1	10	72358622	In_Frame_Del	DEL	CTT	TCGA-EJ-8469-01A-11D-2395-08	29070167	72358622	63176125	34	4993											
FAS	355	broad.mit.edu	37	chr10	90768708	90768708	+	Frame_Shift_Del	DEL	T	T	-																															agtgcagatgtaaaccaaacTttttttgtaactctactgta																										TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr10:90768708delT	ENST00000355740.2	+	4	617	c.397delT	c.(397-399)ttfs	p.F134fs	FAS_ENST00000357339.2_Frame_Shift_Del_p.F134fs|FAS_ENST00000313771.5_3'UTR|FAS_ENST00000355279.2_Frame_Shift_Del_p.F134fs|FAS_ENST00000352159.4_Frame_Shift_Del_p.F134fs	NM_000043.4|NM_152871.2|NM_152872.2	NP_000034.1|NP_690610.1|NP_690611.1	P25445	TNR6_HUMAN	Fas cell surface death receptor	134					activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death	cytosol|extracellular region|integral to membrane|soluble fraction	identical protein binding|kinase binding			breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)		TAAACCAAACTTTTTTTGTAA	0.368													7	831	---	---	---	---						-	90768708	T	-	90768708	7	5	92	1	0	1	0	1	0	0	0	0	5714	1609	56	0	411	0	FAS	10	90768708	Frame_Shift_Del	DEL	T	TCGA-EJ-8469-01A-11D-2395-08	18410086	90768708	44766039	35	4994											
AHNAK	79026	broad.mit.edu	37	chr11	62299465	62299466	+	Frame_Shift_Ins	INS	-	-	A																															ctttgatgttcatctcaggcINSatcttaaacttgggcccttt																										TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr11:62299465_62299466insA	ENST00000378024.4	-	5	2697_2698	c.2423_2424insT	c.(2422-2424)accfs	p.T808fs	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	808					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCATCTCAGGCATCTTAAACTT	0.46													16	429	---	---	---	---						A	62299466	-	A	62299465	7	5	92	1	0	1	1	0	0	0	0	0	411	710	25	0	15368	0	AHNAK	11	62299465	Frame_Shift_Ins	INS	-	TCGA-EJ-8469-01A-11D-2395-08		62299465	72707051	36	4995											
PC	5091	broad.mit.edu	37	chr11	66616483	66616483	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagtctccatcttcatggCactgagcacacacaggggct	10	8	9	14	0	3	1	1	1	2	0	4	1	3	1	1	3	1	3	1	3	0	1			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr11:66616483C>A	ENST00000393960.1	-	23	3705	c.3424G>T	c.(3424-3426)Gcc>Tcc	p.A1142S	PC_ENST00000393958.2_Missense_Mutation_p.A1142S|PC_ENST00000393955.2_Missense_Mutation_p.A1142S|PC_ENST00000528224.1_5'UTR|PC_ENST00000529047.1_Missense_Mutation_p.A262S	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	1142	Biotinyl-binding.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	ATCTTCATGGCACTGAGCACA	0.592													5	211					0.014758	0.0153256	0.184627	1	0	A	66616483	C	A	66616483	3	1	92	1	0	0	0	0	1	0	0	0	11544	710	25	4	116	4	PC	11	66616483	Missense_Mutation	SNP	C	TCGA-EJ-8469-01A-11D-2395-08	4317018	66616483	68390033	37	4996											
FAT3	120114	broad.mit.edu	37	chr11	92086739	92086739	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgaatgaaagtgtcccagtGggaaccagcgttctaacagt	12	9	12	8	1	1	2	0	2	1	0	2	3	2	3	2	1	3	1	2	1	4	2			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr11:92086739G>A	ENST00000298047.6	+	1	1478	c.1461G>A	c.(1459-1461)gtG>gtA	p.V487V	FAT3_ENST00000541502.1_Silent_p.V487V|FAT3_ENST00000409404.2_Silent_p.V487V|FAT3_ENST00000525166.1_Silent_p.V337V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	487	Cadherin 5.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTGTCCCAGTGGGAACCAGCG	0.418										TCGA Ovarian(4;0.039)			19	43					0	0	0.557998	0	0	A	92086739	G	A	92086739	2	1	92	1	0	0	0	0	0	0	0	1	5724	1335	47	2		2	FAT3	11	92086739	Silent	SNP	G	TCGA-EJ-8469-01A-11D-2395-08	25470256	92086739	42919777	38	4997											
ABCC9	10060	broad.mit.edu	37	chr12	22065906	22065906	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagtaaatcagccagatagCggaatgtgctactaagtaga	15	8	10	8	1	1	2	1	0	0	2	1	3	1	3	2	1	4	3	2	1	7	5			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr12:22065906C>T	ENST00000261200.4	-	6	910	c.911G>A	c.(910-912)cGc>cAc	p.R304H	ABCC9_ENST00000261201.4_Missense_Mutation_p.R304H|ABCC9_ENST00000345162.2_Missense_Mutation_p.R304H	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	304	ABC transmembrane type-1 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AGCCAGATAGCGGAATGTGCT	0.423													47	91					0	0	0.870114	0	0	T	22065906	C	T	22065906	3	4	92	1	0	0	0	0	1	0	0	0	59	768	27	1	4012	1	ABCC9	12	22065906	Missense_Mutation	SNP	C	TCGA-EJ-8469-01A-11D-2395-08		22065906	111785989	39	4998											
HNF1A	6927	broad.mit.edu	37	chr12	121435350	121435350	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctgaccaccctgcagccCgtccagttctcccagccgct	6	7	8	20	2	1	1	0	1	1	0	3	1	2	1	7	0	4	3	7	0	0	1			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr12:121435350C>T	ENST00000257555.6	+	7	1609	c.1383C>T	c.(1381-1383)ccC>ccT	p.P461P	HNF1A_ENST00000544413.1_Silent_p.P461P|HNF1A_ENST00000538626.1_Silent_p.P43P|HNF1A_ENST00000541395.1_Silent_p.P461P|HNF1A_ENST00000402929.1_3'UTR|HNF1A_ENST00000400024.2_Silent_p.P461P			P20823	HNF1A_HUMAN	HNF1 homeobox A	461					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCCTGCAGCCCGTCCAGTTCT	0.652									Hepatic Adenoma, Familial Clustering of				27	43					0	0	0.693898	0	0	T	121435350	C	T	121435350	2	4	92	1	0	0	0	0	0	0	0	1	7292	639	23	1		1	HNF1A	12	121435350	Silent	SNP	C	TCGA-EJ-8469-01A-11D-2395-08	99369444	121435350	12416545	40	4999											
EFS	0	broad.mit.edu	37	chr14	23828664	23828664	+	Silent	SNP	T	T	G																															ccataaccaggcaggcggggTgggggtgggggcagaggccg																										TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr14:23828664T>G	ENST00000216733.3	-	4	1630	c.1023A>C	c.(1021-1023)ccA>ccC	p.P341P	EFS_ENST00000429593.2_Silent_p.P172P|EFS_ENST00000351354.3_Silent_p.P248P	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	341	Pro-rich.				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		GCAGGCGGGGTGGGGGTGGGG	0.697													12	63					0	0	0.608945	0	0	G	23828664	T	G	23828664	2	3	92	1	0	0	0	0	0	0	0	1	4985	1683	59	5		5	EFS	14	23828664	Silent	SNP	T	TCGA-EJ-8469-01A-11D-2395-08		23828664	83520876	41	5000	25	2									
EFS	0	broad.mit.edu	37	chr14	23828670	23828670	+	Silent	SNP	T	T	G																															ccaggcaggcggggtgggggTgggggcagaggccggtcctg																										TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr14:23828670T>G	ENST00000216733.3	-	4	1624	c.1017A>C	c.(1015-1017)ccA>ccC	p.P339P	EFS_ENST00000429593.2_Silent_p.P170P|EFS_ENST00000351354.3_Silent_p.P246P	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	339	Pro-rich.				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		GGGGTGGGGGTGGGGGCAGAG	0.697													11	60					0	0	0.557998	0	0	G	23828670	T	G	23828670	2	3	92	1	0	0	0	0	0	0	0	1	4985	1683	59	5		5	EFS	14	23828670	Silent	SNP	T	TCGA-EJ-8469-01A-11D-2395-08	6	23828670	83520870	42	5001	25	2									
NYNRIN	57523	broad.mit.edu	37	chr14	24877239	24877239	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggctccctgatggtgggCgggctgactgagtctttcat	4	12	14	11	1	2	3	1	3	1	0	3	3	3	3	2	4	0	2	2	4	0	1			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr14:24877239C>T	ENST00000382554.3	+	3	681	c.363C>T	c.(361-363)ggC>ggT	p.G121G		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	121					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TGATGGTGGGCGGGCTGACTG	0.667													5	127					0	0	0.248553	0	0	T	24877239	C	T	24877239	2	4	92	1	0	0	0	0	0	0	0	1	10844	755	27	1		1	NYNRIN	14	24877239	Silent	SNP	C	TCGA-EJ-8469-01A-11D-2395-08	1048569	24877239	82472301	43	5002											
FBN1	2200	broad.mit.edu	37	chr15	48788406	48788407	+	Frame_Shift_Ins	INS	-	-	A																															cacaaaggagactgttcagtINSacacattcattaatatctgc																										TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr15:48788406_48788407insA	ENST00000316623.5	-	20	2764_2765	c.2309_2310insT	c.(2308-2310)gctfs	p.A770fs		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	770	EGF-like 12; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GACTGTTCAGTACACATTCATT	0.351													76	101	---	---	---	---						A	48788407	-	A	48788406	7	5	92	1	0	1	1	0	0	0	0	0	5735	1625	57	0	6493	0	FBN1	15	48788406	Frame_Shift_Ins	INS	-	TCGA-EJ-8469-01A-11D-2395-08		48788406	53742986	44	5003											
IFT140	9742	broad.mit.edu	37	chr16	1576790	1576790	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcgccatgttctcccagaCggcctcactgtgggcagacg	6	7	13	15	4	2	2	1	0	1	2	3	2	2	2	3	2	0	2	3	2	0	1			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr16:1576790C>A	ENST00000426508.2	-	20	2770	c.2407G>T	c.(2407-2409)Gtc>Ttc	p.V803F	IFT140_ENST00000361339.5_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	803										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				TTCTCCCAGACGGCCTCACTG	0.692													3	46					0.000602214	0.000641834	0.184627	1	0	A	1576790	C	A	1576790	3	1	92	1	0	0	0	0	1	0	0	0	7600	536	19	4	2029	4	IFT140	16	1576790	Missense_Mutation	SNP	C	TCGA-EJ-8469-01A-11D-2395-08		1576790	88777963	45	5004											
KIAA0430	9665	broad.mit.edu	37	chr16	15729982	15729984	+	In_Frame_Del	DEL	CCA	CCA	-																															tactggtacctccgctaccgCcaccaccaccaccaaaacgc																										TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr16:15729982_15729984delCCA	ENST00000396368.3	-	3	566_568	c.360_362delTGG	c.(358-363)ggc>gg	p.GG120del	KIAA0430_ENST00000344181.3_5'UTR|KIAA0430_ENST00000551742.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000548025.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000602337.1_In_Frame_Del_p.GG120del|KIAA0430_ENST00000540441.2_In_Frame_Del_p.GG120del	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	119	Poly-Gly.					peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TCCGCTACCGCCACCACCACCAC	0.532													7	419	---	---	---	---						-	15729984	CCA	-	15729982	7	5	92	1	0	1	0	1	0	0	0	0	8219	739	26	0	4969	0	KIAA0430	16	15729982	In_Frame_Del	DEL	CCA	TCGA-EJ-8469-01A-11D-2395-08	14153192	15729982	74624771	46	5005											
HIC1	3090	broad.mit.edu	37	chr17	1960405	1960407	+	In_Frame_Del	DEL	GGC	GGC	-																															gcaagtactgccacctgcggGgcggcggcggcggcggcggc																										TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr17:1960405_1960407delGGC	ENST00000399849.2	+	2	581_583	c.421_423delGGC	c.(421-423)del	p.G148del	HIC1_ENST00000322941.3_In_Frame_Del_p.G167del	NM_006497.3	NP_006488.2	Q14526	HIC1_HUMAN	hypermethylated in cancer 1	167					multicellular organismal development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)|lung(1)|prostate(1)	3				READ - Rectum adenocarcinoma(1115;0.236)		CCACCTGCGGggcggcggcggcg	0.764													6	8	---	---	---	---						-	1960407	GGC	-	1960405	7	5	92	1	0	1	0	1	0	0	0	0	7142	1232	43	0	484	0	HIC1	17	1960405	In_Frame_Del	DEL	GGC	TCGA-EJ-8469-01A-11D-2395-08		1960405	79234805	47	5006											
KIAA0753	9851	broad.mit.edu	37	chr17	6503779	6503779	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaagtgggtggcagaaacaCtatttagaaataaaattgaa	18	10	9	4	0	0	3	0	1	0	2	0	3	0	3	0	2	1	1	0	2	8	6			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr17:6503779C>T	ENST00000361413.3	-	13	2368		c.e13-1		KIAA0753_ENST00000572370.1_Splice_Site|KIAA0753_ENST00000542606.1_Splice_Site|KIAA0753_ENST00000575027.1_Splice_Site|KIAA0753_ENST00000589033.1_Splice_Site	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753							centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		GGCAGAAACACTATTTAGAAA	0.383													46	90					0	0	0.870114	0	0	T	6503779	C	T	6503779	5	4	92	1	0	0	0	0	0	0	1	0	8233	579	20	2	922	2	KIAA0753	17	6503779	Splice_Site	SNP	C	TCGA-EJ-8469-01A-11D-2395-08	4543374	6503779	74691431	48	5007											
GGNBP2	79893	broad.mit.edu	37	chr17	34912923	34912923	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attttctttccctctttcagCgacatggtatgcttaagcaa	9	16	6	10	1	3	0	1	0	2	0	4	1	4	0	1	1	3	3	1	1	3	6			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr17:34912923C>T	ENST00000304718.4	+	4	491	c.174_splice	c.e4-1	p.R59_splice		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	59					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		CCTCTTTCAGCGACATGGTAT	0.423													6	179					0	0	0.217242	0	0	T	34912923	C	T	34912923	5	4	92	1	0	0	0	0	0	0	1	0	6401	782	27	1	185	1	GGNBP2	17	34912923	Splice_Site	SNP	C	TCGA-EJ-8469-01A-11D-2395-08	28409144	34912923	46282287	49	5008											
SLC4A1	6521	broad.mit.edu	37	chr17	42340029	42340029	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctcctccatctgggactcGgggatgtctgggtcttcata	5	12	13	11	1	4	0	1	0	3	0	7	2	6	2	2	5	0	1	2	5	1	2	rs56387601		TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr17:42340029G>A	ENST00000262418.6	-	3	236	c.81C>T	c.(79-81)ccC>ccT	p.P27P	AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	27			P -> H (in dbSNP:rs55777403).		bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		TCTGGGACTCGGGGATGTCTG	0.597													11	27					0	0	0.38729	0	0	A	42340029	G	A	42340029	2	1	92	1	0	0	0	0	0	0	0	1	14705	1103	39	1		1	SLC4A1	17	42340029	Silent	SNP	G	TCGA-EJ-8469-01A-11D-2395-08	7427106	42340029	38855181	50	5009											
GRB2	0	broad.mit.edu	37	chr17	73317762	73317762	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcacctgttctatgtccCgcaggaatatctgctggttt	6	14	11	10	1	2	0	0	0	2	0	3	1	3	1	2	3	1	5	2	3	3	4			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr17:73317762C>T	ENST00000392562.1	-	5	1228	c.446G>A	c.(445-447)cGg>cAg	p.R149Q	GRB2_ENST00000392563.1_Missense_Mutation_p.R108Q|GRB2_ENST00000392564.1_Missense_Mutation_p.R149Q|GRB2_ENST00000578961.1_Intron|GRB2_ENST00000316615.5_Missense_Mutation_p.R108Q|GRB2_ENST00000462266.1_5'UTR|GRB2_ENST00000316804.5_Missense_Mutation_p.R149Q			P62993	GRB2_HUMAN	growth factor receptor-bound protein 2	149	SH2.				axon guidance|blood coagulation|cell junction assembly|cell-cell signaling|cellular response to ionizing radiation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|receptor internalization|signal transduction in response to DNA damage|T cell costimulation	cytosol|Golgi apparatus	epidermal growth factor receptor binding|insulin receptor substrate binding|SH3/SH2 adaptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	17	all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222)		all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185)		Pegademase bovine(DB00061)	TTCTATGTCCCGCAGGAATAT	0.463													8	96					0	0	0.27861	0	0	T	73317762	C	T	73317762	3	4	92	1	0	0	0	0	1	0	0	0	6799	652	23	1	215	1	GRB2	17	73317762	Missense_Mutation	SNP	C	TCGA-EJ-8469-01A-11D-2395-08	30977733	73317762	7877448	51	5010											
DNAH17	8632	broad.mit.edu	37	chr17	76563191	76563191	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgaggaggttcccacgcaCgcccccaagctcgattttct	7	8	9	17	4	1	0	0	0	1	0	3	3	2	1	4	2	1	3	4	2	1	3			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr17:76563191C>T	ENST00000389840.5	-	10	1466	c.1342G>A	c.(1342-1344)Gtg>Atg	p.V448M	DNAH17_ENST00000585328.1_Missense_Mutation_p.V448M					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TTCCCACGCACGCCCCCAAGC	0.488													15	13					0	0	0.479597	0	0	T	76563191	C	T	76563191	3	4	92	1	0	0	0	0	1	0	0	0	4629	536	19	1	12334	1	DNAH17	17	76563191	Missense_Mutation	SNP	C	TCGA-EJ-8469-01A-11D-2395-08	3245429	76563191	4632019	52	5011											
HGS	9146	broad.mit.edu	37	chr17	79657219	79657219	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatctctccagggcacgtCtttccagaattcaaagagag	11	11	8	11	1	4	2	2	0	2	2	7	3	6	2	2	1	0	1	2	1	2	3			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr17:79657219C>A	ENST00000329138.4	+	6	558	c.423C>A	c.(421-423)gtC>gtA	p.V141V		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	141	VHS.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			CAGGGCACGTCTTTCCAGAAT	0.607													14	146					1.3612e-06	1.53135e-06	0.479597	1	0	A	79657219	C	A	79657219	2	1	92	1	0	0	0	0	0	0	0	1	7128	900	32	4		4	HGS	17	79657219	Silent	SNP	C	TCGA-EJ-8469-01A-11D-2395-08	3094028	79657219	1537991	53	5012											
FBN3	84467	broad.mit.edu	37	chr19	8191671	8191671	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaggagccggccaggttcCgacagacgccactcacacac	10	5	11	15	3	1	1	1	0	0	1	2	3	2	2	4	3	1	2	4	3	1	2			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr19:8191671C>T	ENST00000600128.1	-	19	2756	c.2342G>A	c.(2341-2343)cGg>cAg	p.R781Q	FBN3_ENST00000601739.1_Missense_Mutation_p.R781Q|FBN3_ENST00000270509.2_Missense_Mutation_p.R781Q			Q75N90	FBN3_HUMAN	fibrillin 3	781	EGF-like 10; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGCCAGGTTCCGACAGACGCC	0.662													4	110					0	0	0.150653	0	0	T	8191671	C	T	8191671	3	4	92	1	0	0	0	0	1	0	0	0	5737	652	23	1	6271	1	FBN3	19	8191671	Missense_Mutation	SNP	C	TCGA-EJ-8469-01A-11D-2395-08		8191671	50937312	54	5013											
ECSIT	51295	broad.mit.edu	37	chr19	11618821	11618821	+	Frame_Shift_Del	DEL	G	G	-																															cttacctacgatgtggggctGggggggatctgctgcacctg																										TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr19:11618821delG	ENST00000270517.7	-	5	916	c.781delC	c.(781-783)agfs	p.Q261fs	ECSIT_ENST00000588998.1_Frame_Shift_Del_p.Q47fs|ECSIT_ENST00000591104.1_Frame_Shift_Del_p.Q261fs|ECSIT_ENST00000592312.1_Frame_Shift_Del_p.Q145fs|ECSIT_ENST00000591352.1_5'UTR|ECSIT_ENST00000417981.2_Frame_Shift_Del_p.Q47fs|ECSIT_ENST00000252440.7_Frame_Shift_Del_p.Q261fs	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN	ECSIT signalling integrator	261					innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						ATGTGGGGCTGGGGGGGATCT	0.582													7	266	---	---	---	---						-	11618821	G	-	11618821	7	5	92	1	0	1	0	1	0	0	0	0	4926	1357	47	0	530	0	ECSIT	19	11618821	Frame_Shift_Del	DEL	G	TCGA-EJ-8469-01A-11D-2395-08	3427150	11618821	47510162	55	5014											
ZNF709	163051	broad.mit.edu	37	chr19	12575498	12575498	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggtttctctccagtgtgaGttctttcatgcattcgaaag	7	15	11	8	1	3	1	1	1	2	0	6	2	4	1	1	2	1	3	1	2	1	4			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr19:12575498G>A	ENST00000397732.3	-	4	1409	c.1238C>T	c.(1237-1239)aCt>aTt	p.T413I	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T413I(2)		large_intestine(3)|upper_aerodigestive_tract(3)	6						TCCAGTGTGAGTTCTTTCATG	0.418													5	232					0	0	0.217242	0	0	A	12575498	G	A	12575498	3	1	92	1	0	0	0	0	1	0	0	0	18169	1029	36	2	691	2	ZNF709	19	12575498	Missense_Mutation	SNP	G	TCGA-EJ-8469-01A-11D-2395-08	956677	12575498	46553485	56	5015											
TPM4	7171	broad.mit.edu	37	chr19	16204531	16204531	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttgcagagagaacggttgCaaaactggaaaagacaattg	17	8	11	5	1	0	3	0	0	0	3	0	5	0	4	0	2	4	3	0	2	6	3			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr19:16204531C>G	ENST00000300933.4	+	7	892	c.632C>G	c.(631-633)gCa>gGa	p.A211G	TPM4_ENST00000538887.1_Missense_Mutation_p.A247G|TPM4_ENST00000591645.1_3'UTR|TPM4_ENST00000344824.6_Missense_Mutation_p.A247G	NM_003290.2	NP_003281.1	P67936	TPM4_HUMAN	tropomyosin 4	211					cellular component movement|muscle filament sliding|response to oxidative stress	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding|calcium ion binding|structural constituent of muscle		TPM4/ALK(12)	breast(1)|large_intestine(3)	4						AGAACGGTTGCAAAACTGGAA	0.483			T	ALK	ALCL								5	196					0	0	0.217242	0	0	G	16204531	C	G	16204531	3	3	92	1	0	0	0	0	1	0	0	0	16469	710	25	4	906	4	TPM4	19	16204531	Missense_Mutation	SNP	C	TCGA-EJ-8469-01A-11D-2395-08	3629033	16204531	42924452	57	5016											
CATSPERG	57828	broad.mit.edu	37	chr19	38852407	38852407	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggcgcggccgccgcgcgTcctggagcgctcgggcttcc	1	5	17	18	9	0	0	0	0	0	0	3	1	2	1	5	4	1	2	5	4	0	1			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr19:38852407T>G	ENST00000409235.3	+	17	2115	c.2000T>G	c.(1999-2001)gTc>gGc	p.V667G	CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Missense_Mutation_p.V627G	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	667					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						CCGCCGCGCGTCCTGGAGCGC	0.667													5	24					0	0	0.184627	0	0	G	38852407	T	G	38852407	3	3	92	1	0	0	0	0	1	0	0	0	2710	1667	58	5	2062	5	CATSPERG	19	38852407	Missense_Mutation	SNP	T	TCGA-EJ-8469-01A-11D-2395-08	22647876	38852407	20276576	58	5017											
HIF3A	64344	broad.mit.edu	37	chr19	46825111	46825111	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctggccgctgacccccgccGtttctgcagccctgacctcc	3	8	9	21	3	1	2	0	2	1	0	2	2	2	2	8	1	2	3	8	1	0	1			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr19:46825111G>A	ENST00000339613.2	+	10	1310	c.1055G>A	c.(1054-1056)cGt>cAt	p.R352H	HIF3A_ENST00000244303.6_Missense_Mutation_p.R339H|HIF3A_ENST00000472815.1_Missense_Mutation_p.R339H|HIF3A_ENST00000420102.2_Missense_Mutation_p.R357H|HIF3A_ENST00000377670.4_Missense_Mutation_p.R408H|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000600383.1_Missense_Mutation_p.R339H|HIF3A_ENST00000300862.3_Missense_Mutation_p.R406H			Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	408					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		GACCCCCGCCGTTTCTGCAGC	0.692													18	99					0	0	0.681144	0	0	A	46825111	G	A	46825111	3	1	92	1	0	0	0	0	1	0	0	0	7146	1145	40	1	1285	1	HIF3A	19	46825111	Missense_Mutation	SNP	G	TCGA-EJ-8469-01A-11D-2395-08	7972704	46825111	12303872	59	5018											
CPXM1	56265	broad.mit.edu	37	chr20	2774864	2774864	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtccccttagccgctccAggcgcctgcgaaggtccggg	4	8	13	16	4	1	0	0	0	1	0	4	1	4	0	6	3	2	1	6	3	2	1			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr20:2774864A>G	ENST00000380605.2	-	14	2241	c.2177T>C	c.(2176-2178)cTg>cCg	p.L726P		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	726					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						TAGCCGCTCCAGGCGCCTGCG	0.627													7	137					0	0	0.248553	0	0	G	2774864	A	G	2774864	3	3	92	1	0	0	0	0	1	0	0	0	3860	188	7	3	31	3	CPXM1	20	2774864	Missense_Mutation	SNP	A	TCGA-EJ-8469-01A-11D-2395-08		2774864	60250656	60	5019											
TRIOBP	11078	broad.mit.edu	37	chr22	38121845	38121845	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccagacacatcagatgcCgagcatcagtgtcagtcccc	10	7	8	16	1	3	2	3	0	0	2	5	3	5	2	4	0	2	1	4	0	0	0			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chr22:38121845C>T	ENST00000406386.3	+	7	3537	c.3282C>T	c.(3280-3282)gcC>gcT	p.A1094A	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1094					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CATCAGATGCCGAGCATCAGT	0.652													6	279					0	0	0.248553	0	0	T	38121845	C	T	38121845	2	4	92	1	0	0	0	0	0	0	0	1	16614	639	23	1		1	TRIOBP	22	38121845	Silent	SNP	C	TCGA-EJ-8469-01A-11D-2395-08		38121845	13182721	61	5020											
NAP1L2	4674	broad.mit.edu	37	chrX	72433664	72433666	+	In_Frame_Del	DEL	TCC	TCC	-																															ctccagtagcctcaatgtcgTcctcctcctcctcctcctcc																										TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chrX:72433664_72433666delTCC	ENST00000373517.3	-	1	1018_1020	c.663_665delGGA	c.(661-666)gac>ga	p.ED221del	NAP1L2_ENST00000536638.1_In_Frame_Del_p.ED79del	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	221	Glu-rich (acidic).				nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					CTCAATGTCGtcctcctcctcct	0.424													7	61	---	---	---	---						-	72433666	TCC	-	72433664	7	5	92	1	0	1	0	1	0	0	0	0	10205	1667	58	0	721	0	NAP1L2	23	72433664	In_Frame_Del	DEL	TCC	TCGA-EJ-8469-01A-11D-2395-08		72433664	82836896	62	5021											
KLHL4	0	broad.mit.edu	37	chrX	86887270	86887270	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggctacatattggcaccaTgaatggccgtaggcttcaat	10	12	10	9	1	1	1	1	1	0	0	1	1	1	1	2	4	1	4	2	4	5	6			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chrX:86887270T>C	ENST00000373119.4	+	7	1530	c.1385T>C	c.(1384-1386)aTg>aCg	p.M462T	KLHL4_ENST00000373114.4_Missense_Mutation_p.M462T	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	462						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						ATTGGCACCATGAATGGCCGT	0.393													3	43					0	0	0.115264	0	0	C	86887270	T	C	86887270	3	2	92	1	0	0	0	0	1	0	0	0	8434	1464	51	3	1411	3	KLHL4	23	86887270	Missense_Mutation	SNP	T	TCGA-EJ-8469-01A-11D-2395-08	14453606	86887270	68383290	63	5022											
CLDN2	9075	broad.mit.edu	37	chrX	106171821	106171821	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagagtggcggtagcaggTggagtctttttcatccttgg	7	12	15	7	1	2	1	1	0	1	1	3	3	3	2	1	5	1	2	1	5	1	4			TCGA-EJ-8469-01A-11D-2395-08	TCGA-EJ-8469-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4f80437-b585-4146-b6e0-9e8e44fef3da	77d692db-a5c0-4d14-926a-d2f81943505a	g.chrX:106171821T>G	ENST00000541806.1	+	2	882	c.363T>G	c.(361-363)ggT>ggG	p.G121G	CLDN2_ENST00000336803.1_Silent_p.G121G|CLDN2_ENST00000540876.1_Silent_p.G121G	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN	claudin 2	121					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						CGGTAGCAGGTGGAGTCTTTT	0.542													4	72					0	0	0.624587	0	0	G	106171821	T	G	106171821	2	3	92	1	0	0	0	0	0	0	0	1	3504	1683	59	5		5	CLDN2	23	106171821	Silent	SNP	T	TCGA-EJ-8469-01A-11D-2395-08	19284551	106171821	49098739	64	5023											
PARS2	25973	broad.mit.edu	37	chr1	55224347	55224347	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgggaggcaattaaggccGtaatggcttcctcgtgagtt	8	12	13	8	2	1	1	0	1	1	0	3	2	2	2	2	4	0	4	2	4	3	4			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr1:55224347G>A	ENST00000371279.3	-	2	570	c.488C>T	c.(487-489)aCg>aTg	p.T163M		NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN	prolyl-tRNA synthetase 2, mitochondrial (putative)	163					prolyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|proline-tRNA ligase activity			breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15					L-Proline(DB00172)	AATTAAGGCCGTAATGGCTTC	0.532													5	388					0	0	1	0	0	A	55224347	G	A	55224347	3	1	93	1	0	0	0	0	1	0	0	0	11514	1145	40	1	943	1	PARS2	1	55224347	Missense_Mutation	SNP	G	TCGA-EJ-8470-01A-11D-2395-08		55224347	194026274	1	5024											
CRNN	49860	broad.mit.edu	37	chr1	152382519	152382519	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccctgcctgtatctgagTgtgtcctcctgtcacagcct	5	13	9	14	0	2	2	1	2	1	0	4	2	4	2	5	0	2	1	5	0	1	1			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr1:152382519T>C	ENST00000271835.3	-	3	1101	c.1039A>G	c.(1039-1041)Act>Gct	p.T347A	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	347	Gln-rich.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTATCTGAGTGTGTCCTCCT	0.592													5	383					0	0	1	0	0	C	152382519	T	C	152382519	3	2	93	1	0	0	0	0	1	0	0	0	3915	1696	59	3	452	3	CRNN	1	152382519	Missense_Mutation	SNP	T	TCGA-EJ-8470-01A-11D-2395-08	97158172	152382519	96868102	2	5025											
NIF3L1	60491	broad.mit.edu	37	chr2	201756971	201756971	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatcttccgacccatgaagcGcataacctggaacacatgga	13	8	8	12	2	1	1	0	1	1	0	2	4	2	3	3	2	3	1	3	2	4	3			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr2:201756971G>A	ENST00000409020.1	+	2	599	c.305G>A	c.(304-306)cGc>cAc	p.R102H	NIF3L1_ENST00000359683.4_Missense_Mutation_p.R75H|NIF3L1_ENST00000409588.1_Missense_Mutation_p.R102H|NIF3L1_ENST00000416651.1_Missense_Mutation_p.R102H|NIF3L1_ENST00000409357.1_Missense_Mutation_p.R102H			Q9GZT8	NIF3L_HUMAN	NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae)	102					positive regulation of transcription, DNA-dependent		transcription factor binding	p.R102H(1)|p.R75H(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(2)	13						CCCATGAAGCGCATAACCTGG	0.547													4	195					0	0	1	0	0	A	201756971	G	A	201756971	3	1	93	1	0	0	0	0	1	0	0	0	10463	1087	38	1	307	1	NIF3L1	2	201756971	Missense_Mutation	SNP	G	TCGA-EJ-8470-01A-11D-2395-08		201756971	41442402	3	5026											
RAPH1	65059	broad.mit.edu	37	chr2	204305685	204305685	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggatcttcagtggaggaggcGgggcactgaactgtggaagg	9	7	19	6	1	2	1	1	1	1	0	2	5	2	5	0	8	1	1	0	8	2	1			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr2:204305685G>A	ENST00000319170.5	-	14	2527	c.2228C>T	c.(2227-2229)cCg>cTg	p.P743L	RAPH1_ENST00000457812.1_Intron|RAPH1_ENST00000374493.3_Missense_Mutation_p.P795L	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	743					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGGAGGAGGCGGGGCACTGAA	0.642													23	199					0	0	1	0	0	A	204305685	G	A	204305685	3	1	93	1	0	0	0	0	1	0	0	0	13102	1116	39	1	1528	1	RAPH1	2	204305685	Missense_Mutation	SNP	G	TCGA-EJ-8470-01A-11D-2395-08	2548714	204305685	38893688	4	5027											
SP100	6672	broad.mit.edu	37	chr2	231368925	231368925	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagaattcccaaagatgaaaAtattaattttaaacaatctg	20	12	4	5	0	1	3	0	1	1	2	2	3	2	3	1	0	1	0	1	0	10	5			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr2:231368925A>G	ENST00000264052.5	+	21	2145	c.1790A>G	c.(1789-1791)aAt>aGt	p.N597S	SP100_ENST00000340126.4_Missense_Mutation_p.N597S|SP100_ENST00000409112.1_Missense_Mutation_p.N597S	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	597	SAND.				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AAAGATGAAAATATTAATTTT	0.408													5	139					0	0	1	0	0	G	231368925	A	G	231368925	3	3	93	1	0	0	0	0	1	0	0	0	15014	101	4	3	1872	3	SP100	2	231368925	Missense_Mutation	SNP	A	TCGA-EJ-8470-01A-11D-2395-08	27063240	231368925	11830448	5	5028											
DNAH1	25981	broad.mit.edu	37	chr3	52420237	52420237	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacagaggagatcaaagccaAtgagaaggccaagaaggcac	18	2	13	8	0	1	4	1	1	0	4	1	7	1	4	2	3	1	1	2	3	5	0			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr3:52420237A>G	ENST00000420323.2	+	55	8948	c.8687A>G	c.(8686-8688)aAt>aGt	p.N2896S		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2896	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ATCAAAGCCAATGAGAAGGCC	0.597													9	54					0	0	1	0	0	G	52420237	A	G	52420237	3	3	93	1	0	0	0	0	1	0	0	0	4625	101	4	3	8901	3	DNAH1	3	52420237	Missense_Mutation	SNP	A	TCGA-EJ-8470-01A-11D-2395-08		52420237	145602193	6	5029											
GABRB1	2560	broad.mit.edu	37	chr4	47427733	47427733	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcagcaccctggaaatcCggaatgagacgagtggctcg	10	7	12	12	3	1	1	1	1	0	1	4	5	3	3	3	3	1	2	3	3	2	0			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr4:47427733C>T	ENST00000295454.3	+	9	1415	c.1123C>T	c.(1123-1125)Cgg>Tgg	p.R375W	GABRB1_ENST00000538619.1_Missense_Mutation_p.R305W	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	375					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(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CCTGGAAATCCGGAATGAGAC	0.562													8	166					0	0	1	0	0	T	47427733	C	T	47427733	3	4	93	1	0	0	0	0	1	0	0	0	6201	643	23	1	1157	1	GABRB1	4	47427733	Missense_Mutation	SNP	C	TCGA-EJ-8470-01A-11D-2395-08		47427733	143726543	7	5030											
PCDHA12	0	broad.mit.edu	37	chr5	140256667	140256667	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcagttccaggtgagcgCgcgcgacgccggcgtgccgc	4	5	17	15	8	0	1	0	1	0	0	1	2	1	1	3	2	3	3	3	2	0	1			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr5:140256667C>T	ENST00000398631.2	+	1	1610	c.1610C>T	c.(1609-1611)gCg>gTg	p.A537V	PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGTGAGCGCGCGCGACGCC	0.687													7	336					0	0	1	0	0	T	140256667	C	T	140256667	3	4	93	1	0	0	0	0	1	0	0	0	11569	768	27	1	1612	1	PCDHA12	5	140256667	Missense_Mutation	SNP	C	TCGA-EJ-8470-01A-11D-2395-08		140256667	40658593	8	5031											
PCDHB6	0	broad.mit.edu	37	chr5	140531282	140531282	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagagactcaggcatcaacGcccaggtcacctactcgctg	11	6	9	15	2	3	1	3	0	0	1	4	2	3	1	2	2	2	2	2	2	2	1			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr5:140531282G>A	ENST00000231136.1	+	1	1444	c.1444G>A	c.(1444-1446)Gcc>Acc	p.A482T	PCDHB6_ENST00000543635.1_Missense_Mutation_p.A346T	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		482	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGCATCAACGCCCAGGTCAC	0.642													14	529					0	0	1	0	0	A	140531282	G	A	140531282	3	1	93	1	0	0	0	0	1	0	0	0	11593	1087	38	1	1446	1	PCDHB6	5	140531282	Missense_Mutation	SNP	G	TCGA-EJ-8470-01A-11D-2395-08	274615	140531282	40383978	9	5032											
PCDHB16	0	broad.mit.edu	37	chr5	140563584	140563584	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagagactcaggcaccaacGcccaggtcacctactcgctg	11	5	9	16	2	2	1	2	0	0	1	3	2	2	1	3	2	2	2	3	2	2	1			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr5:140563584G>A	ENST00000361016.2	+	1	2605	c.1450G>A	c.(1450-1452)Gcc>Acc	p.A484T		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		484	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.A484T(1)		breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGCACCAACGCCCAGGTCAC	0.652													82	349					0	0	1	0	0	A	140563584	G	A	140563584	3	1	93	1	0	0	0	0	1	0	0	0	11588	1087	38	1	1452	1	PCDHB16	5	140563584	Missense_Mutation	SNP	G	TCGA-EJ-8470-01A-11D-2395-08	32302	140563584	40351676	10	5033											
ZNF165	7718	broad.mit.edu	37	chr6	28057219	28057219	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accttagtcaacaccagagaAttcacatgagggaaaaccta	17	7	7	10	0	2	2	2	1	0	1	2	4	2	3	3	1	2	0	3	1	6	3			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr6:28057219A>C	ENST00000377325.1	+	4	1985	c.1429A>C	c.(1429-1431)Att>Ctt	p.I477L		NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	477					viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ACACCAGAGAATTCACATGAG	0.333													30	67					0	0	1	0	0	C	28057219	A	C	28057219	3	2	93	1	0	0	0	0	1	0	0	0	17798	101	4	5	1439	5	ZNF165	6	28057219	Missense_Mutation	SNP	A	TCGA-EJ-8470-01A-11D-2395-08		28057219	143057848	11	5034											
NCR2	9436	broad.mit.edu	37	chr6	41304075	41304075	+	Frame_Shift_Del	DEL	G	G	-																															accatgactgatctgagagaGgaagactcaggacattactg																										TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr6:41304075delG	ENST00000373083.4	+	2	525	c.303delG	c.(301-303)gafs	p.E102fs	NCR2_ENST00000373086.3_Frame_Shift_Del_p.E102fs|NCR2_ENST00000373089.5_Frame_Shift_Del_p.E102fs	NM_001199510.1	NP_001186439.1	O95944	NCTR2_HUMAN	natural cytotoxicity triggering receptor 2	102	Ig-like.				cellular defense response	integral to plasma membrane	transmembrane receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14	Ovarian(28;0.0327)|Colorectal(47;0.196)					ATCTGAGAGAGGAAGACTCAG	0.517													7	189	---	---	---	---						-	41304075	G	-	41304075	7	5	93	1	0	1	0	1	0	0	0	0	10285	991	35	0	309	0	NCR2	6	41304075	Frame_Shift_Del	DEL	G	TCGA-EJ-8470-01A-11D-2395-08	13246856	41304075	129810992	12	5035											
FOXP2	93986	broad.mit.edu	37	chr7	114299484	114299484	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acttatgcaactctcataagGcaggtaagtagaaggaaaat	17	9	9	6	0	1	1	1	0	1	1	2	2	1	2	0	3	2	4	0	3	8	4			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr7:114299484G>C	ENST00000408937.3	+	13	1991	c.1617G>C	c.(1615-1617)agG>agC	p.R539S	FOXP2_ENST00000350908.4_Missense_Mutation_p.R514S|FOXP2_ENST00000393491.3_Intron|FOXP2_ENST00000403559.4_Missense_Mutation_p.R531S|FOXP2_ENST00000393498.2_Missense_Mutation_p.R493S|FOXP2_ENST00000393494.2_Missense_Mutation_p.R514S|FOXP2_ENST00000393489.3_Missense_Mutation_p.R422S|FOXP2_ENST00000393500.3_3'UTR	NM_001172766.2|NM_014491.3|NM_148898.3	NP_001166237.1|NP_055306.1|NP_683696.2	O15409	FOXP2_HUMAN	forkhead box P2	514					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						CTCTCATAAGGCAGGTAAGTA	0.303													27	98					0	0	1	0	0	C	114299484	G	C	114299484	3	2	93	1	0	0	0	0	1	0	0	0	6061	1194	42	4	1751	4	FOXP2	7	114299484	Missense_Mutation	SNP	G	TCGA-EJ-8470-01A-11D-2395-08		114299484	44839179	13	5036											
CLDN23	137075	broad.mit.edu	37	chr8	8560665	8560665	+	Frame_Shift_Del	DEL	C	C	-																															gcttccccatgccgcggccgCggcccaaggcctacaccaac																										TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr8:8560665delC	ENST00000519106.1	+	1	1218	c.757delC	c.(757-759)ggfs	p.R253fs		NM_194284.2	NP_919260.2	Q96B33	CLD23_HUMAN	claudin 23	253					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(2)	2		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.071)|READ - Rectum adenocarcinoma(644;0.238)		GCCGCGGCCGCGGCCCAAGGC	0.706													3	6	---	---	---	---						-	8560665	C	-	8560665	7	5	93	1	0	1	0	1	0	0	0	0	3507	759	27	0	759	0	CLDN23	8	8560665	Frame_Shift_Del	DEL	C	TCGA-EJ-8470-01A-11D-2395-08		8560665	137803357	14	5037											
UTP23	84294	broad.mit.edu	37	chr8	117783946	117783946	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ataagtggtcccaatcctctTagttgtttgaagaaaaagaa	15	12	8	6	0	1	3	0	1	1	2	3	3	3	3	2	1	0	2	2	1	7	4			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr8:117783946T>A	ENST00000309822.2	+	3	716	c.615T>A	c.(613-615)ctT>ctA	p.L205L	UTP23_ENST00000357148.3_Intron|UTP23_ENST00000517820.1_Intron|UTP23_ENST00000520733.1_Intron	NM_032334.2	NP_115710.2	Q9BRU9	UTP23_HUMAN	UTP23, small subunit (SSU) processome component, homolog (yeast)	205					rRNA processing	nucleolus				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	12						CCAATCCTCTTAGTTGTTTGA	0.358													21	90					0	0	1	0	0	A	117783946	T	A	117783946	2	1	93	1	0	0	0	0	0	0	0	1	17160	1741	61	5		5	UTP23	8	117783946	Silent	SNP	T	TCGA-EJ-8470-01A-11D-2395-08	109223281	117783946	28580076	15	5038											
FKBP15	23307	broad.mit.edu	37	chr9	115962194	115962194	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctgccacaatgaggtcctggGagagcactgcatccagggaa	11	6	13	11	0	0	2	0	1	0	1	2	4	2	3	3	3	3	2	3	3	2	0			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr9:115962194G>C	ENST00000238256.3	-	7	665	c.548C>G	c.(547-549)tCc>tGc	p.S183C		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	183					endocytosis|protein folding	axon|early endosome	actin binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						GAGGTCCTGGGAGAGCACTGC	0.488													12	34					0	0	1	0	0	C	115962194	G	C	115962194	3	2	93	1	0	0	0	0	1	0	0	0	5938	1174	41	4	3199	4	FKBP15	9	115962194	Missense_Mutation	SNP	G	TCGA-EJ-8470-01A-11D-2395-08		115962194	25251237	16	5039											
DBH	1621	broad.mit.edu	37	chr9	136508616	136508616	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcccccgagatggacagcGtcccccacttcagcgggccc	6	4	12	19	4	1	1	1	0	0	1	2	3	2	2	5	2	2	0	5	2	0	1			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr9:136508616G>A	ENST00000393056.2	+	4	838	c.826G>A	c.(826-828)Gtc>Atc	p.V276I		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	276					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding	p.V276I(1)		central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	GATGGACAGCGTCCCCCACTT	0.657													36	141					0	0	1	0	0	A	136508616	G	A	136508616	3	1	93	1	0	0	0	0	1	0	0	0	4274	1145	40	1	840	1	DBH	9	136508616	Missense_Mutation	SNP	G	TCGA-EJ-8470-01A-11D-2395-08	20546422	136508616	4704815	17	5040											
ANXA7	310	broad.mit.edu	37	chr10	75139867	75139867	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgttaaagcaagattcatcGgtccctagtctcccctcacc	10	11	6	14	1	3	1	2	0	1	1	6	1	4	1	4	1	1	2	4	1	4	3	rs138551538		TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr10:75139867G>A	ENST00000372921.4	-	10	1067	c.1011C>T	c.(1009-1011)acC>acT	p.T337T	ANXA7_ENST00000535178.1_Silent_p.T207T	NM_001156.3	NP_001147.1	P20073	ANXA7_HUMAN	annexin A7	359							calcium ion binding|calcium-dependent phospholipid binding|calcium-dependent protein binding	p.T359T(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26	Prostate(51;0.0119)					AAGATTCATCGGTCCCTAGTC	0.458													52	434					0	0	1	0	0	A	75139867	G	A	75139867	2	1	93	1	0	0	0	0	0	0	0	1	717	1103	39	1		1	ANXA7	10	75139867	Silent	SNP	G	TCGA-EJ-8470-01A-11D-2395-08		75139867	60394880	18	5041											
ZNF503	84858	broad.mit.edu	37	chr10	77161101	77161106	+	In_Frame_Del	DEL	CCGCCT	CCGCCT	-																															tccaggcagggtctgcaccgCcgcctccgcctccgccgccg																								rs72126859		TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr10:77161101_77161106delCCGCCT	ENST00000372524.4	-	1	558_563	c.72_77delAGGCGG	c.(70-78)ggc>gg	p.GGG24del	ZNF503_ENST00000535216.1_In_Frame_Del_p.GGG24del	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN	zinc finger protein 503	24	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					GTCTGCAccgccgcctccgcctccgc	0.718													3	5	---	---	---	---						-	77161106	CCGCCT	-	77161101	7	5	93	1	0	1	0	1	0	0	0	0	18008	739	26	0	1871	0	ZNF503	10	77161101	In_Frame_Del	DEL	CCGCCT	TCGA-EJ-8470-01A-11D-2395-08	2021234	77161101	58373646	19	5042											
SLC25A28	81894	broad.mit.edu	37	chr10	101373523	101373523	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttttaacttttcgtagcaGgcaaaataaagggcgtgggc	11	13	11	6	2	0	0	0	0	0	0	1	0	0	0	0	3	2	3	0	3	6	7			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr10:101373523G>A	ENST00000370495.4	-	2	478	c.450C>T	c.(448-450)gcC>gcT	p.A150A	SLC25A28_ENST00000496035.1_5'UTR	NM_031212.3	NP_112489.3	Q96A46	MFRN2_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 28	150					ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane				endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|stomach(1)	11		Colorectal(252;0.234)		Epithelial(162;2.57e-10)|all cancers(201;2.01e-08)		TTTCGTAGCAGGCAAAATAAA	0.532													16	68					0	0	1	0	0	A	101373523	G	A	101373523	2	1	93	1	0	0	0	0	0	0	0	1	14546	987	35	2		2	SLC25A28	10	101373523	Silent	SNP	G	TCGA-EJ-8470-01A-11D-2395-08	24212422	101373523	34161224	20	5043											
BTBD10	84280	broad.mit.edu	37	chr11	13443342	13443342	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actagcaccatgtagactcaTtttggtgtggtcaactcctc	9	13	8	11	0	2	1	2	0	0	1	4	1	3	1	2	2	2	2	2	2	3	4			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr11:13443342T>C	ENST00000278174.5	-	3	390	c.145A>G	c.(145-147)Atg>Gtg	p.M49V	BTBD10_ENST00000532261.1_5'UTR|BTBD10_ENST00000528120.1_Start_Codon_SNP_p.M1V|BTBD10_ENST00000530907.1_Missense_Mutation_p.M57V	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10	49						nucleus				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		TGTAGACTCATTTTGGTGTGG	0.408													12	68					0	0	1	0	0	C	13443342	T	C	13443342	3	2	93	1	0	0	0	0	1	0	0	0	1540	1493	52	3	1310	3	BTBD10	11	13443342	Missense_Mutation	SNP	T	TCGA-EJ-8470-01A-11D-2395-08		13443342	121563174	21	5044											
CNTN1	1272	broad.mit.edu	37	chr12	41316217	41316217	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcagaagcactgaagcaacCctgagctttggatgtaagta	13	9	11	8	0	1	3	1	2	0	1	1	4	1	4	1	1	4	5	1	1	5	3			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr12:41316217C>A	ENST00000551295.2	+	5	504	c.387C>A	c.(385-387)acC>acA	p.T129T	CNTN1_ENST00000547849.1_Silent_p.T129T|CNTN1_ENST00000547702.1_Silent_p.T129T|CNTN1_ENST00000360099.3_Silent_p.T129T|CNTN1_ENST00000347616.1_Silent_p.T129T|CNTN1_ENST00000348761.2_Silent_p.T118T	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	129	Ig-like C2-type 1.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CTGAAGCAACCCTGAGCTTTG	0.398													4	87					0.184627	0.18832	1	1	0	A	41316217	C	A	41316217	2	1	93	1	0	0	0	0	0	0	0	1	3663	610	22	4		4	CNTN1	12	41316217	Silent	SNP	C	TCGA-EJ-8470-01A-11D-2395-08		41316217	92535678	22	5045											
AMIGO2	347902	broad.mit.edu	37	chr12	47472525	47472525	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tttgcaaacgatactggaatCcactcagaatccagaagccc	14	8	7	12	1	1	2	1	0	0	2	3	4	3	3	3	1	4	1	3	1	5	2	rs147425809		TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr12:47472525C>T	ENST00000266581.4	-	2	727	c.261G>A	c.(259-261)tgG>tgA	p.W87*	AMIGO2_ENST00000321382.3_Nonsense_Mutation_p.W87*|AMIGO2_ENST00000550413.1_Nonsense_Mutation_p.W87*|AMIGO2_ENST00000429635.1_Nonsense_Mutation_p.W87*	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN	adhesion molecule with Ig-like domain 2	87					heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					ATACTGGAATCCACTCAGAAT	0.438													33	137					0	0	1	0	0	T	47472525	C	T	47472525	4	4	93	1	0	0	0	0	0	1	0	0	572	856	30	2	1311	2	AMIGO2	12	47472525	Nonsense_Mutation	SNP	C	TCGA-EJ-8470-01A-11D-2395-08	6156308	47472525	86379370	23	5046											
FLT1	2321	broad.mit.edu	37	chr13	28919605	28919605	+	Frame_Shift_Del	DEL	G	G	-																															tttcatttttcggataaagaGggttaataggagccagaaga																										TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr13:28919605delG	ENST00000282397.4	-	16	2583	c.2332delC	c.(2332-2334)tcfs	p.L778fs	FLT1_ENST00000540678.1_5'UTR	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	778					cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	CGGATAAAGAGGGTTAATAGG	0.413													12	29	---	---	---	---						-	28919605	G	-	28919605	7	5	93	1	0	1	0	1	0	0	0	0	5974	1000	35	0	1744	0	FLT1	13	28919605	Frame_Shift_Del	DEL	G	TCGA-EJ-8470-01A-11D-2395-08		28919605	86250273	24	5047											
ANKS3	124401	broad.mit.edu	37	chr16	4780010	4780010	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cactccttcaccacttcataCtggccaatggaagcagctgt	10	10	7	14	0	2	0	2	0	0	0	3	1	3	1	3	2	3	2	3	2	3	3	rs148767427		TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr16:4780010C>T	ENST00000304283.4	-	3	435	c.141G>A	c.(139-141)caG>caA	p.Q47Q	ANKS3_ENST00000446014.2_5'UTR|ANKS3_ENST00000585773.1_Intron|ANKS3_ENST00000592711.1_Silent_p.Q47Q|ANKS3_ENST00000450067.2_5'UTR	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	47										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						CCACTTCATACTGGCCAATGG	0.577													40	361					0	0	1	0	0	T	4780010	C	T	4780010	2	4	93	1	0	0	0	0	0	0	0	1	684	564	20	2		2	ANKS3	16	4780010	Silent	SNP	C	TCGA-EJ-8470-01A-11D-2395-08		4780010	85574743	25	5048											
DNAH3	55567	broad.mit.edu	37	chr16	20952769	20952769	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggacggtattcatggattCttcatagaccacggggtaca	11	11	11	8	2	3	1	2	0	1	1	3	3	3	3	1	5	1	2	1	5	4	7			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr16:20952769C>A	ENST00000261383.3	-	59	11607	c.11608G>T	c.(11608-11610)Gaa>Taa	p.E3870*	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3870					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TTCATGGATTCTTCATAGACC	0.488													144	473					1.70343e-82	1.8099e-82	1	1	0	A	20952769	C	A	20952769	4	1	93	1	0	0	0	0	0	1	0	0	4631	922	32	4	757	4	DNAH3	16	20952769	Nonsense_Mutation	SNP	C	TCGA-EJ-8470-01A-11D-2395-08	16172759	20952769	69401984	26	5049											
ACLY	47	broad.mit.edu	37	chr17	40025296	40025296	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaacagctacaatgctcacCgagtaaaggacccacagttt	16	7	7	11	1	1	0	1	0	0	0	1	2	1	1	2	1	4	4	2	1	6	3			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr17:40025296C>A	ENST00000352035.2	-	27	3264	c.3134_splice	c.e27+1	p.R1045_splice	ACLY_ENST00000353196.1_Splice_Site_p.R1035_splice|ACLY_ENST00000588779.1_5'UTR|ACLY_ENST00000393896.2_Splice_Site_p.R1035_splice|ACLY_ENST00000537919.1_Splice_Site_p.R774_splice|ACLY_ENST00000590151.1_Splice_Site_p.R1045_splice	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	1045					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity	p.R1045L(1)	NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				CAATGCTCACCGAGTAAAGGA	0.358													5	485					1	1	1	1	0	A	40025296	C	A	40025296	5	1	93	1	0	0	0	0	0	0	1	0	143	666	23	4	183	4	ACLY	17	40025296	Splice_Site	SNP	C	TCGA-EJ-8470-01A-11D-2395-08		40025296	41169914	27	5050											
NFE2L1	4779	broad.mit.edu	37	chr17	46136011	46136011	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accctttggggggtctgttaGatgaagctatgttggatgag	8	13	15	5	0	1	3	0	2	1	1	1	4	1	4	1	4	1	3	1	4	3	4			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr17:46136011G>C	ENST00000362042.3	+	6	1943	c.1327G>C	c.(1327-1329)Gat>Cat	p.D443H	NFE2L1_ENST00000361665.3_Missense_Mutation_p.D432H|NFE2L1_ENST00000357480.5_Missense_Mutation_p.D413H|NFE2L1_ENST00000582155.1_Missense_Mutation_p.D255H|NFE2L1_ENST00000585291.1_Missense_Mutation_p.D413H|NFE2L1_ENST00000583378.1_Missense_Mutation_p.D244H|NFE2L1_ENST00000536222.1_Missense_Mutation_p.D287H	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	443					anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGGTCTGTTAGATGAAGCTAT	0.547													37	118					0	0	1	0	0	C	46136011	G	C	46136011	3	2	93	1	0	0	0	0	1	0	0	0	10414	942	33	4	1345	4	NFE2L1	17	46136011	Missense_Mutation	SNP	G	TCGA-EJ-8470-01A-11D-2395-08	6110715	46136011	35059199	28	5051											
GNA13	10672	broad.mit.edu	37	chr17	63049844	63049844	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcatcaaccagcaccctcaTacctttgtttaaaaagaaga	16	9	5	11	0	2	2	2	0	0	2	2	2	2	2	3	0	4	3	3	0	6	4			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr17:63049844T>C	ENST00000439174.2	-	2	531	c.286A>G	c.(286-288)Atg>Gtg	p.M96V	GNA13_ENST00000541118.1_Start_Codon_SNP_p.M1V	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	96					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						AGCACCCTCATACCTTTGTTT	0.363													26	104					0	0	1	0	0	C	63049844	T	C	63049844	3	2	93	1	0	0	0	0	1	0	0	0	6543	1406	49	3	859	3	GNA13	17	63049844	Missense_Mutation	SNP	T	TCGA-EJ-8470-01A-11D-2395-08	16913833	63049844	18145366	29	5052											
MC5R	4161	broad.mit.edu	37	chr18	13826202	13826202	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggtacgtcaccatcttctaCgccctgcgctaccaccacat	9	9	6	17	3	3	0	1	0	2	0	3	0	3	0	4	1	4	2	4	1	3	4			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr18:13826202C>T	ENST00000324750.3	+	1	660	c.438C>T	c.(436-438)taC>taT	p.Y146Y		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	146					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						CCATCTTCTACGCCCTGCGCT	0.557													10	276					0	0	1	0	0	T	13826202	C	T	13826202	2	4	93	1	0	0	0	0	0	0	0	1	9417	547	19	1		1	MC5R	18	13826202	Silent	SNP	C	TCGA-EJ-8470-01A-11D-2395-08		13826202	64251046	30	5053											
VAV1	7409	broad.mit.edu	37	chr19	6822285	6822285	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgtggagaatgaggaggCggaaggcgacgagatctatg	11	6	18	6	4	1	3	0	1	1	2	1	8	1	5	0	5	1	0	0	5	3	1			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr19:6822285C>T	ENST00000304076.2	+	5	597	c.503C>T	c.(502-504)gCg>gTg	p.A168V	VAV1_ENST00000539284.1_Missense_Mutation_p.A103V|VAV1_ENST00000599806.1_Missense_Mutation_p.A113V|VAV1_ENST00000596764.1_Missense_Mutation_p.A168V|VAV1_ENST00000602142.1_Missense_Mutation_p.A168V	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	168					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						AATGAGGAGGCGGAAGGCGAC	0.647													3	22					0	0	1	0	0	T	6822285	C	T	6822285	3	4	93	1	0	0	0	0	1	0	0	0	17191	768	27	1	521	1	VAV1	19	6822285	Missense_Mutation	SNP	C	TCGA-EJ-8470-01A-11D-2395-08		6822285	52306698	31	5054											
SLC1A6	6511	broad.mit.edu	37	chr19	15073138	15073138	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcctggttaccaccctcGtgctgtactgcgtcttgaac	5	13	10	13	2	1	1	0	1	1	0	3	1	2	1	3	2	5	3	3	2	3	3			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr19:15073138G>A	ENST00000598504.1	-	8	1970	c.611C>T	c.(610-612)aCg>aTg	p.T204M	SLC1A6_ENST00000544886.2_Missense_Mutation_p.T204M|SLC1A6_ENST00000430939.2_Missense_Mutation_p.T140M|SLC1A6_ENST00000221742.3_Missense_Mutation_p.T204M|SLC1A6_ENST00000600144.1_Missense_Mutation_p.T204M	NM_001272087.1	NP_001259016.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	204					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.T204M(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	TACCACCCTCGTGCTGTACTG	0.532													33	117					0	0	1	0	0	A	15073138	G	A	15073138	3	1	93	1	0	0	0	0	1	0	0	0	14491	1145	40	1	1103	1	SLC1A6	19	15073138	Missense_Mutation	SNP	G	TCGA-EJ-8470-01A-11D-2395-08	8250853	15073138	44055845	32	5055											
PDCD5	9141	broad.mit.edu	37	chr19	33077770	33077770	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctggttctcctaggtatcaGaacaaggtttaatagaaatc	13	13	8	7	0	3	2	1	0	2	2	5	2	3	2	1	3	1	3	1	3	7	6			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr19:33077770G>C	ENST00000590247.1	+	5	459	c.265G>C	c.(265-267)Gaa>Caa	p.E89Q	PDCD5_ENST00000379316.3_Intron|PDCD5_ENST00000592786.1_Missense_Mutation_p.R58T|PDCD5_ENST00000586035.1_Missense_Mutation_p.E51Q	NM_004708.3	NP_004699.1	O14737	PDCD5_HUMAN	programmed cell death 5	89					apoptosis|induction of apoptosis	cytoplasm|nucleus	DNA binding			breast(1)|large_intestine(2)|lung(1)|ovary(1)	5	Esophageal squamous(110;0.137)					CTAGGTATCAGAACAAGGTTT	0.343													23	94					0	0	1	0	0	C	33077770	G	C	33077770	3	2	93	1	0	0	0	0	1	0	0	0	11669	943	33	4	283	4	PDCD5	19	33077770	Missense_Mutation	SNP	G	TCGA-EJ-8470-01A-11D-2395-08	18004632	33077770	26051213	33	5056											
PNPLA5	150379	broad.mit.edu	37	chr22	44285287	44285287	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggaagctgaagttgaagacGttcagctcatgcaggttggg	10	10	15	6	1	2	3	2	2	0	1	2	4	2	4	0	3	3	6	0	3	3	3			TCGA-EJ-8470-01A-11D-2395-08	TCGA-EJ-8470-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5303fe3d-a1df-4e49-9fe3-94d7daf30ab1	7dccc1c4-8cb2-47b1-8383-93623cc51068	g.chr22:44285287G>T	ENST00000216177.4	-	4	756	c.624C>A	c.(622-624)aaC>aaA	p.N208K	PNPLA5_ENST00000597664.1_Missense_Mutation_p.N208K|PNPLA5_ENST00000593866.1_Missense_Mutation_p.N94K|PNPLA5_ENST00000381198.2_Missense_Mutation_p.N94K	NM_138814.3	NP_620169.1	Q7Z6Z6	PLPL5_HUMAN	patatin-like phospholipase domain containing 5	208					lipid catabolic process		hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	16		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				AGTTGAAGACGTTCAGCTCAT	0.577													5	280					0.184627	0.18832	1	1	0	T	44285287	G	T	44285287	3	4	93	1	0	0	0	0	1	0	0	0	12216	1136	40	4	689	4	PNPLA5	22	44285287	Missense_Mutation	SNP	G	TCGA-EJ-8470-01A-11D-2395-08		44285287	7019279	34	5057											
IL23R	149233	broad.mit.edu	37	chr1	67724721	67724721	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttgtctcctgtttggggatCgtgaatgaggagttgccatc	6	15	13	7	1	1	2	0	2	1	0	4	4	1	4	2	3	1	2	2	3	1	3			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr1:67724721C>T	ENST00000347310.5	+	11	1971	c.1800C>T	c.(1798-1800)atC>atT	p.I600I	IL23R_ENST00000371002.1_3'UTR|IL23R_ENST00000473881.1_3'UTR|IL23R_ENST00000395227.1_Silent_p.I345I	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	600					inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						GTTTGGGGATCGTGAATGAGG	0.403													63	68					0	0	0.870114	0	0	T	67724721	C	T	67724721	2	4	94	1	0	0	0	0	0	0	0	1	7720	874	31	1		1	IL23R	1	67724721	Silent	SNP	C	TCGA-EJ-8472-01A-11D-2395-08		67724721	181525900	1	5058											
HFM1	164045	broad.mit.edu	37	chr1	91818698	91818698	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgatgataagcagcaccatCttttaagatatctgtaatag	15	13	7	6	0	2	3	0	2	2	1	2	3	2	3	1	0	2	3	1	0	5	6			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr1:91818698C>G	ENST00000370425.3	-	15	1839	c.1741G>C	c.(1741-1743)Gat>Cat	p.D581H	HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Missense_Mutation_p.D260H	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	581	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		GCAGCACCATCTTTTAAGATA	0.313													22	71					0	0	0.654019	0	0	G	91818698	C	G	91818698	3	3	94	1	0	0	0	0	1	0	0	0	7124	913	32	4	2666	4	HFM1	1	91818698	Missense_Mutation	SNP	C	TCGA-EJ-8472-01A-11D-2395-08	24093977	91818698	157431923	2	5059											
ALG14	199857	broad.mit.edu	37	chr1	95538408	95538409	+	Frame_Shift_Ins	INS	-	-	C																															tattcgcaggattaggaaaaINSccgccacagctcctgcggcc																								rs138237877	by1000genomes	TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	ddf88d8d-b8d4-4f66-964b-5350018c056a	g.chr1:95538408_95538409insC	ENST00000370205.4	-	1	92_93	c.46_47insG	c.(46-48)tttfs	p.F16fs	ALG14_ENST00000495856.1_5'UTR	NM_144988.3	NP_659425.1	Q96F25	ALG14_HUMAN	ALG14, UDP-N-acetylglucosaminyltransferase subunit	16					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity	p.V16G(1)		endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	6		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.0615)|Epithelial(280;0.139)		GATTAGGAAAACCGCCACAGCT	0.569													7	158	---	---	---	---						C	95538409	-	C	95538408	7	5	94	1	0	1	1	0	0	0	0	0	513	43	2	0	619	0	ALG14	1	95538408	Frame_Shift_Ins	INS	-	TCGA-EJ-8472-01A-11D-2395-08	3719710	95538408	153712213	3	5060											
ARNT	0	broad.mit.edu	37	chr1	150789283	150789283	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgaaattctctgccggccGgggggtaggagggaatgtgt	7	9	17	8	2	1	1	0	1	1	0	2	3	1	3	3	6	1	1	3	6	3	2			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr1:150789283G>A	ENST00000358595.5	-	18	1983	c.1783C>T	c.(1783-1785)Cgg>Tgg	p.R595W	ARNT_ENST00000354396.2_Missense_Mutation_p.R595W|ARNT_ENST00000515192.1_Missense_Mutation_p.R581W|ARNT_ENST00000505755.1_Missense_Mutation_p.R580W	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	595					positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCTGCCGGCCGGGGGGTAGGA	0.527			T	ETV6	AML								52	95					0	0	0.870114	0	0	A	150789283	G	A	150789283	3	1	94	1	0	0	0	0	1	0	0	0	964	1115	39	1	606	1	ARNT	1	150789283	Missense_Mutation	SNP	G	TCGA-EJ-8472-01A-11D-2395-08	55250875	150789283	98461338	4	5061											
SDHC	6391	broad.mit.edu	37	chr1	161326467	161326467	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctacttggttttctcctcagGggtctctctttttggcatgt	3	19	9	10	0	4	0	1	0	3	0	6	0	4	0	1	4	1	2	1	4	1	6			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr1:161326467G>A	ENST00000367975.2	+	5	391	c.241_splice	c.e5-1	p.G81_splice	SDHC_ENST00000432287.2_Splice_Site_p.G47_splice|SDHC_ENST00000513009.1_Intron|SDHC_ENST00000342751.4_Intron|SDHC_ENST00000392169.2_Splice_Site_p.G28_splice|SDHC_ENST00000470743.2_Splice_Site	NM_003001.3	NP_002992.1	Q99643	C560_HUMAN	succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa	81					respiratory electron transport chain|transport|tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain complex II|plasma membrane succinate dehydrogenase complex	electron carrier activity|heme binding|succinate dehydrogenase activity			urinary_tract(1)	1	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Succinic acid(DB00139)	TTCTCCTCAGGGGTCTCTCTT	0.468			"Mis, N, F"			"paraganglioma, pheochromocytoma"			Familial Paragangliomas;Carney-Stratakis syndrome				59	139					0	0	0.870114	0	0	A	161326467	G	A	161326467	5	1	94	1	0	0	0	0	0	0	1	0	14020	1246	43	2	260	2	SDHC	1	161326467	Splice_Site	SNP	G	TCGA-EJ-8472-01A-11D-2395-08	10537184	161326467	87924154	5	5062											
CAMK1G	57172	broad.mit.edu	37	chr1	209781259	209781259	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggattgctggtccatcGgcgtcatcacctacatattg	7	13	10	11	2	2	0	2	0	0	0	4	1	3	1	2	3	2	1	2	3	2	4			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr1:209781259G>A	ENST00000009105.1	+	7	861	c.616G>A	c.(616-618)Ggc>Agc	p.G206S	CAMK1G_ENST00000361322.2_Missense_Mutation_p.G206S|CAMK1G_ENST00000494990.1_3'UTR			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	206	Protein kinase.					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		CTGGTCCATCGGCGTCATCAC	0.582													61	127					0	0	0.870114	0	0	A	209781259	G	A	209781259	3	1	94	1	0	0	0	0	1	0	0	0	2616	1116	39	1	638	1	CAMK1G	1	209781259	Missense_Mutation	SNP	G	TCGA-EJ-8472-01A-11D-2395-08	48454792	209781259	39469362	6	5063											
SUSD4	55061	broad.mit.edu	37	chr1	223396921	223396921	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacgggagcatgacgggcaCgccgtctaccaccacaaagt	11	4	13	13	4	1	1	0	1	1	0	1	3	1	3	3	3	2	2	3	3	2	1			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr1:223396921C>T	ENST00000343846.3	-	7	1747	c.1114G>A	c.(1114-1116)Gtg>Atg	p.V372M	SUSD4_ENST00000454695.2_Missense_Mutation_p.V212M|SUSD4_ENST00000366878.4_Missense_Mutation_p.V372M|SUSD4_ENST00000478605.1_Intron			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	372						integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		ATGACGGGCACGCCGTCTACC	0.617													12	29					0	0	0.411799	0	0	T	223396921	C	T	223396921	3	4	94	1	0	0	0	0	1	0	0	0	15466	536	19	1	366	1	SUSD4	1	223396921	Missense_Mutation	SNP	C	TCGA-EJ-8472-01A-11D-2395-08	13615662	223396921	25853700	7	5064											
RYR2	6262	broad.mit.edu	37	chr1	237947932	237947932	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgttttcagaggctttttccGcatcatttgcagcctgctgc	5	15	9	12	2	2	1	2	0	0	1	3	1	3	1	2	1	4	5	2	1	0	5			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr1:237947932G>A	ENST00000366574.2	+	90	13237	c.12920G>A	c.(12919-12921)cGc>cAc	p.R4307H	RYR2_ENST00000360064.6_Missense_Mutation_p.R4313H|RYR2_ENST00000542537.1_Missense_Mutation_p.R4291H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4307					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.R4305L(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGCTTTTTCCGCATCATTTGC	0.502													48	71					0	0	0.870114	0	0	A	237947932	G	A	237947932	3	1	94	1	0	0	0	0	1	0	0	0	13821	1087	38	1	13278	1	RYR2	1	237947932	Missense_Mutation	SNP	G	TCGA-EJ-8472-01A-11D-2395-08	14551011	237947932	11302689	8	5065											
OR1C1	26188	broad.mit.edu	37	chr1	247921334	247921334	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taatgtaaggggtggcaaatCgccacatatctatcatacgc	13	10	9	9	2	2	0	1	0	1	0	3	0	2	0	1	3	1	2	1	3	6	5			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr1:247921334C>T	ENST00000408896.2	-	1	648	c.375G>A	c.(373-375)gcG>gcA	p.A125A		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A125A(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GGTGGCAAATCGCCACATATC	0.507													35	56					0	0	0.812448	0	0	T	247921334	C	T	247921334	2	4	94	1	0	0	0	0	0	0	0	1	11000	871	31	1		1	OR1C1	1	247921334	Silent	SNP	C	TCGA-EJ-8472-01A-11D-2395-08	9973402	247921334	1329287	9	5066											
TTN	7273	broad.mit.edu	37	chr2	179593776	179593776	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcatcttcatcaagaatcTgatcatcctttagccaggtt	11	15	5	10	0	6	2	4	1	2	1	7	2	7	2	2	1	1	1	2	1	4	5			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr2:179593776T>C	ENST00000589042.1	-	65	19213	c.18989A>G	c.(18988-18990)cAg>cGg	p.Q6330R	TTN_ENST00000342992.6_Missense_Mutation_p.Q5086R|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.Q6013R|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6013	Ig-like 44.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCAAGAATCTGATCATCCTT	0.398													19	37					0	0	0.539581	0	0	C	179593776	T	C	179593776	3	2	94	1	0	0	0	0	1	0	0	0	16797	1580	55	3	85732	3	TTN	2	179593776	Missense_Mutation	SNP	T	TCGA-EJ-8472-01A-11D-2395-08		179593776	63605597	10	5067											
KIF1A	547	broad.mit.edu	37	chr2	241725861	241725861	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagtgggtgctccctcacgcGaaggttgcccttgttcttgg	4	12	13	12	2	2	0	1	0	1	0	3	1	3	0	2	3	2	3	2	3	1	4			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr2:241725861G>A	ENST00000498729.2	-	6	745	c.499C>T	c.(499-501)Cgc>Tgc	p.R167C	KIF1A_ENST00000320389.7_Missense_Mutation_p.R167C	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	167	Kinesin-motor.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TCCCTCACGCGAAGGTTGCCC	0.607													32	111					0	0	0.760397	0	0	A	241725861	G	A	241725861	3	1	94	1	0	0	0	0	1	0	0	0	8325	1058	37	1	4741	1	KIF1A	2	241725861	Missense_Mutation	SNP	G	TCGA-EJ-8472-01A-11D-2395-08	62132085	241725861	1473512	11	5068											
C3orf62	375341	broad.mit.edu	37	chr3	49314298	49314298	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaagcgaccatgtctttatgTaatgcattggaaatgcacag	14	11	9	7	1	1	0	0	0	1	0	1	2	1	1	1	1	3	3	1	1	4	4			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr3:49314298T>C	ENST00000343010.3	-	1	1044	c.8A>G	c.(7-9)tAc>tGc	p.Y3C		NM_198562.2	NP_940964.1	Q6ZUJ4	CC062_HUMAN	chromosome 3 open reading frame 62	3										breast(1)|kidney(1)|large_intestine(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGTCTTTATGTAATGCATTGG	0.443													14	60					0	0	0.479597	0	0	C	49314298	T	C	49314298	3	2	94	1	0	0	0	0	1	0	0	0	2252	1638	57	3	807	3	C3orf62	3	49314298	Missense_Mutation	SNP	T	TCGA-EJ-8472-01A-11D-2395-08		49314298	148708132	12	5069											
GPR87	0	broad.mit.edu	37	chr3	151012286	151012286	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaccctgatgctctggttatGttttcgctttcggcttgact	5	17	9	10	2	1	2	0	2	1	0	3	2	1	2	1	2	2	5	1	2	2	5			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr3:151012286G>A	ENST00000260843.4	-	3	1212	c.748C>T	c.(748-750)Cat>Tat	p.H250Y	MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	250						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTCTGGTTATGTTTTCGCTTT	0.438													85	141					0	0	0.870114	0	0	A	151012286	G	A	151012286	3	1	94	1	0	0	0	0	1	0	0	0	6756	1377	48	2	332	2	GPR87	3	151012286	Missense_Mutation	SNP	G	TCGA-EJ-8472-01A-11D-2395-08	101697988	151012286	47010144	13	5070											
CNOT6L	246175	broad.mit.edu	37	chr4	78641727	78641727	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttctcaaccagccattgaGgatctaaaggccccaggaca	12	8	9	12	0	2	1	1	1	2	0	3	3	2	3	4	3	2	1	4	3	3	3			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr4:78641727G>A	ENST00000504123.1	-	12	1656	c.1526C>T	c.(1525-1527)cCt>cTt	p.P509L	CNOT6L_ENST00000264903.4_Missense_Mutation_p.P509L			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	509					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						CAGCCATTGAGGATCTAAAGG	0.468													107	168					0	0	0.870114	0	0	A	78641727	G	A	78641727	3	1	94	1	0	0	0	0	1	0	0	0	3646	1000	35	2	145	2	CNOT6L	4	78641727	Missense_Mutation	SNP	G	TCGA-EJ-8472-01A-11D-2395-08		78641727	112512549	14	5071											
PDZD2	23037	broad.mit.edu	37	chr5	32090268	32090268	+	Frame_Shift_Del	DEL	C	C	-																															cattttggacgggagggtcaCcccccacacagcctgggtcg																										TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr5:32090268delC	ENST00000438447.1	+	20	7102	c.6714delC	c.(6712-6714)cafs	p.H2238fs	PDZD2_ENST00000282493.3_Frame_Shift_Del_p.H2238fs			O15018	PDZD2_HUMAN	PDZ domain containing 2	2238					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GGGAGGGTCACCCCCCACACA	0.637													8	701	---	---	---	---						-	32090268	C	-	32090268	7	5	94	1	0	1	0	1	0	0	0	0	11748	506	18	0	6788	0	PDZD2	5	32090268	Frame_Shift_Del	DEL	C	TCGA-EJ-8472-01A-11D-2395-08		32090268	148824992	15	5072											
SNCAIP	9627	broad.mit.edu	37	chr5	121776374	121776374	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgcaagaacagggcatctcGttggatgaagtagaccagga	14	7	13	7	1	1	3	0	1	1	2	2	5	1	5	1	3	2	4	1	3	4	2			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr5:121776374G>A	ENST00000261367.7	+	9	2916	c.1488G>A	c.(1486-1488)tcG>tcA	p.S496S	SNCAIP_ENST00000379536.2_Silent_p.S389S|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000379538.3_Silent_p.S83S|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000379533.2_Silent_p.S496S|SNCAIP_ENST00000261368.8_Silent_p.S449S|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000414317.2_Silent_p.S51S|CTC-210G5.1_ENST00000510972.1_RNA|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000542191.1_Silent_p.S7S|SNCAIP_ENST00000503116.2_Silent_p.S496S			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	449					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		AGGGCATCTCGTTGGATGAAG	0.448													69	110					0	0	0.870114	0	0	A	121776374	G	A	121776374	2	1	94	1	0	0	0	0	0	0	0	1	14895	1132	40	1		1	SNCAIP	5	121776374	Silent	SNP	G	TCGA-EJ-8472-01A-11D-2395-08	89686106	121776374	59138886	16	5073											
ZNF608	57507	broad.mit.edu	37	chr5	123984772	123984772	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcagcagacctcgctctcttCcctctgccccggccccctct	3	9	7	22	2	3	1	0	0	3	1	6	1	4	1	6	1	2	3	6	1	0	1			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr5:123984772C>A	ENST00000306315.5	-	4	1740	c.1305G>T	c.(1303-1305)ggG>ggT	p.G435G	ZNF608_ENST00000504926.1_Silent_p.G8G	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	435						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TCGCTCTCTTCCCTCTGCCCC	0.572													36	75					4.11147e-13	4.71315e-13	0.788014	1	0	A	123984772	C	A	123984772	2	1	94	1	0	0	0	0	0	0	0	1	18091	842	30	4		4	ZNF608	5	123984772	Silent	SNP	C	TCGA-EJ-8472-01A-11D-2395-08	2208398	123984772	56930488	17	5074											
PHF15	0	broad.mit.edu	37	chr5	133914648	133914649	+	Frame_Shift_Ins	INS	-	-	C																															catcctagccacccctgaaaINSgccccccgccactggcccct																										TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-11A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	ddf88d8d-b8d4-4f66-964b-5350018c056a	g.chr5:133914648_133914649insC	ENST00000395003.1	+	11	2193_2194	c.2014_2015insC	c.(2014-2016)cccfs	p.P672fs	PHF15_ENST00000402835.1_3'UTR|PHF15_ENST00000361895.2_Frame_Shift_Ins_p.P673fs|PHF15_ENST00000282605.4_Frame_Shift_Ins_p.P716fs	NM_015288.4	NP_056103.4	Q9NQC1	JADE2_HUMAN		672	Pro-rich.				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CACCCCTGAAAGCCCCCCGCCA	0.649													8	271	---	---	---	---						C	133914649	-	C	133914648	7	5	94	1	0	1	1	0	0	0	0	0	11874	72	3	0	2052	0	PHF15	5	133914648	Frame_Shift_Ins	INS	-	TCGA-EJ-8472-01A-11D-2395-08	9929876	133914648	47000612	18	5075											
PCDHB3	0	broad.mit.edu	37	chr5	140482022	140482022	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggcggtggacggcgactcgGgccagaacgcctggctgtcg	5	6	18	12	6	0	1	0	0	0	1	2	3	0	2	2	6	1	1	2	6	1	0			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr5:140482022G>T	ENST00000231130.2	+	1	1789	c.1789G>T	c.(1789-1791)Ggc>Tgc	p.G597C		NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		597	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGCGACTCGGGCCAGAACGC	0.721													34	131					1.61572e-30	1.92251e-30	0.853193	1	0	T	140482022	G	T	140482022	3	4	94	1	0	0	0	0	1	0	0	0	11590	1232	43	4	1791	4	PCDHB3	5	140482022	Missense_Mutation	SNP	G	TCGA-EJ-8472-01A-11D-2395-08	6567374	140482022	40433238	19	5076											
FAF2	23197	broad.mit.edu	37	chr5	175933901	175933901	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccctacgctacaggaggccGgactcagccacacagaagtt	11	5	10	15	2	1	1	1	0	0	1	1	3	1	3	4	3	3	2	4	3	3	3			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr5:175933901G>T	ENST00000261942.6	+	11	1341	c.1288G>T	c.(1288-1290)Gga>Tga	p.G430*		NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN	Fas associated factor family member 2	430	UBX.				response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding			breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						ACAGGAGGCCGGACTCAGCCA	0.512													4	183					0.00909568	0.00960667	0.150653	1	0	T	175933901	G	T	175933901	4	4	94	1	0	0	0	0	0	1	0	0	5401	1117	39	4	1330	4	FAF2	5	175933901	Nonsense_Mutation	SNP	G	TCGA-EJ-8472-01A-11D-2395-08	35451879	175933901	4981359	20	5077											
UNC5A	90249	broad.mit.edu	37	chr5	176306459	176306459	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taggcggggtgccgactggcGgactctggcccagaaactcc	7	6	15	13	3	1	1	0	0	1	1	2	3	2	2	3	6	2	0	3	6	2	1			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr5:176306459G>A	ENST00000329542.4	+	14	2607	c.2333G>A	c.(2332-2334)cGg>cAg	p.R778Q	UNC5A_ENST00000261961.3_Missense_Mutation_p.R738Q	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	778	Death.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCGACTGGCGGACTCTGGCC	0.677													83	142					0	0	0.870114	0	0	A	176306459	G	A	176306459	3	1	94	1	0	0	0	0	1	0	0	0	17051	1116	39	1	2387	1	UNC5A	5	176306459	Missense_Mutation	SNP	G	TCGA-EJ-8472-01A-11D-2395-08	372558	176306459	4608801	21	5078											
RREB1	6239	broad.mit.edu	37	chr6	7229901	7229901	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggtggtggccacctccacGcccccgcctctcatcaacgc	6	6	9	20	4	2	0	2	0	1	0	4	0	3	0	6	3	1	0	6	3	1	0			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr6:7229901G>C	ENST00000379938.2	+	10	2106	c.1569G>C	c.(1567-1569)acG>acC	p.T523T	RREB1_ENST00000334984.6_Silent_p.T523T|RREB1_ENST00000349384.6_Silent_p.T523T|RREB1_ENST00000379933.3_Silent_p.T523T	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	523	Pro-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCACCTCCACGCCCCCGCCTC	0.687													10	104					0	0	0.870114	0	0	C	7229901	G	C	7229901	2	2	94	1	0	0	0	0	0	0	0	1	13731	1074	38	4		4	RREB1	6	7229901	Silent	SNP	G	TCGA-EJ-8472-01A-11D-2395-08		7229901	163885166	22	5079											
HSPA1L	0	broad.mit.edu	37	chr6	31778497	31778497	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtggggatggtggagttgCgctttatcagggcagtcatc	6	12	17	6	1	2	0	2	0	0	0	3	2	2	2	0	6	1	3	0	6	1	3			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr6:31778497C>T	ENST00000375654.4	-	2	1442	c.1253G>A	c.(1252-1254)cGc>cAc	p.R418H	HSPA1L_ENST00000417199.3_Missense_Mutation_p.R418H	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	418					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GGTGGAGTTGCGCTTTATCAG	0.602													37	154					0	0	0.827153	0	0	T	31778497	C	T	31778497	3	4	94	1	0	0	0	0	1	0	0	0	7453	768	27	1	676	1	HSPA1L	6	31778497	Missense_Mutation	SNP	C	TCGA-EJ-8472-01A-11D-2395-08	24548596	31778497	139336570	23	5080											
ROS1	6098	broad.mit.edu	37	chr6	117630054	117630054	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctggataaggctgatgacCaagagttaaaatctcccaaa	16	8	9	8	0	1	3	0	2	1	1	2	4	1	4	2	2	1	3	2	2	5	2			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr6:117630054C>T	ENST00000368508.3	-	41	6670	c.6472G>A	c.(6472-6474)Ggt>Agt	p.G2158S	ROS1_ENST00000368507.3_Missense_Mutation_p.G2152S	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	2158	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GGCTGATGACCAAGAGTTAAA	0.383			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								16	88					0	0	0.520397	0	0	T	117630054	C	T	117630054	3	4	94	1	0	0	0	0	1	0	0	0	13583	594	21	2	583	2	ROS1	6	117630054	Missense_Mutation	SNP	C	TCGA-EJ-8472-01A-11D-2395-08	85851557	117630054	53485013	24	5081											
C6orf70	0	broad.mit.edu	37	chr6	170175420	170175420	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgctgcctttccccgaaGaactcactcggcaagccgtc	7	9	8	17	3	2	1	1	0	1	1	5	2	3	1	4	1	4	2	4	1	3	1			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr6:170175420G>T	ENST00000588451.1	+	13	1477	c.964G>T	c.(964-966)Gaa>Taa	p.E322*	C6orf70_ENST00000392095.4_Nonsense_Mutation_p.E332*|C6orf70_ENST00000418781.3_Nonsense_Mutation_p.E458*|C6orf70_ENST00000366773.3_Nonsense_Mutation_p.E458*|C6orf70_ENST00000366772.2_Nonsense_Mutation_p.E458*			Q5T6L9	CF070_HUMAN		458						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1)	20		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)		TTTCCCCGAAGAACTCACTCG	0.502													16	34					1.50039e-11	1.65926e-11	0.608945	1	0	T	170175420	G	T	170175420	4	4	94	1	0	0	0	0	0	1	0	0	2385	943	33	4	1426	4	C6orf70	6	170175420	Nonsense_Mutation	SNP	G	TCGA-EJ-8472-01A-11D-2395-08	52545366	170175420	939647	25	5082											
PIK3CG	5294	broad.mit.edu	37	chr7	106509435	106509435	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accaccgtttcctcctgcgcCgtggagaatacgtcctccac	7	9	8	17	4	0	1	0	0	0	1	4	2	4	1	7	1	2	1	7	1	2	2	rs138344795	byFrequency	TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr7:106509435C>T	ENST00000359195.3	+	2	1739	c.1429C>T	c.(1429-1431)Cgt>Tgt	p.R477C	PIK3CG_ENST00000440650.2_Missense_Mutation_p.R477C|PIK3CG_ENST00000496166.1_Missense_Mutation_p.R477C	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	477					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CCTCCTGCGCCGTGGAGAATA	0.517													69	110					0	0	0.870114	0	0	T	106509435	C	T	106509435	3	4	94	1	0	0	0	0	1	0	0	0	11964	652	23	1	1431	1	PIK3CG	7	106509435	Missense_Mutation	SNP	C	TCGA-EJ-8472-01A-11D-2395-08		106509435	52629228	26	5083											
SSPO	23145	broad.mit.edu	37	chr7	149525648	149525652	+	RNA	DEL	ACAAA	ACAAA	-																															aaaaaacaaaacaaaacaatAcaaaacaaaacaaaacaaaa																										TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr7:149525648_149525652delACAAA	ENST00000378016.2	+	0	14985							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			acaaaacaatacaaaacaaaacaaa	0.502													2	4	---	---	---	---						-	149525652	ACAAA	-	149525648	6	5	94	0	1	1	0	1	0	0	0	0	15245	406	14	0		0	SSPO	7	149525648	RNA	DEL	ACAAA	TCGA-EJ-8472-01A-11D-2395-08	43016213	149525648	9613015	27	5084											
HTRA4	203100	broad.mit.edu	37	chr8	38834065	38834065	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggagacaggttacttcacgGcagcaggcttgttcctgtgt	7	12	13	9	1	1	1	1	0	0	1	2	2	2	1	1	4	2	5	1	4	1	4			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr8:38834065G>A	ENST00000302495.4	+	3	678	c.578G>A	c.(577-579)gGc>gAc	p.G193D		NM_153692.3	NP_710159.1	P83105	HTRA4_HUMAN	HtrA serine peptidase 4	193					proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			TTACTTCACGGCAGCAGGCTT	0.473													29	24					0	0	0.740014	0	0	A	38834065	G	A	38834065	3	1	94	1	0	0	0	0	1	0	0	0	7500	1203	42	2	588	2	HTRA4	8	38834065	Missense_Mutation	SNP	G	TCGA-EJ-8472-01A-11D-2395-08		38834065	107529957	28	5085											
VCPIP1	80124	broad.mit.edu	37	chr8	67578649	67578649	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaggcttccggagcggtccTtgccatagcccacagtgtta	7	9	13	12	2	0	0	0	0	0	0	2	2	2	2	4	4	3	2	4	4	2	4	rs147256539		TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr8:67578649T>C	ENST00000310421.4	-	1	803	c.545A>G	c.(544-546)aAg>aGg	p.K182R		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	182					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			GGAGCGGTCCTTGCCATAGCC	0.547													91	132					0	0	0.870114	0	0	C	67578649	T	C	67578649	3	2	94	1	0	0	0	0	1	0	0	0	17201	1609	56	3	3135	3	VCPIP1	8	67578649	Missense_Mutation	SNP	T	TCGA-EJ-8472-01A-11D-2395-08	28744584	67578649	78785373	29	5086											
ARFGEF1	10565	broad.mit.edu	37	chr8	68123726	68123726	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaataactcacttgctgtaGatttaattttgctgacttct	11	17	6	7	0	2	2	1	1	1	1	2	3	2	2	0	0	3	3	0	0	4	8			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr8:68123726G>A	ENST00000262215.3	-	34	5200	c.4811C>T	c.(4810-4812)tCt>tTt	p.S1604F	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.S1058F|ARFGEF1_ENST00000518230.1_Missense_Mutation_p.S442F	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1604					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			ACTTGCTGTAGATTTAATTTT	0.313													18	36					0	0	0.592651	0	0	A	68123726	G	A	68123726	3	1	94	1	0	0	0	0	1	0	0	0	849	942	33	2	762	2	ARFGEF1	8	68123726	Missense_Mutation	SNP	G	TCGA-EJ-8472-01A-11D-2395-08	545077	68123726	78240296	30	5087											
PKHD1L1	93035	broad.mit.edu	37	chr8	110420309	110420309	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcttggttatgaagtagtTgaagggaataatgtcacact	12	13	11	5	0	1	2	1	2	0	0	1	3	1	3	0	2	1	4	0	2	6	5			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr8:110420309T>A	ENST00000378402.5	+	18	1949	c.1845T>A	c.(1843-1845)gtT>gtA	p.V615V		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	615					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATGAAGTAGTTGAAGGGAATA	0.348										HNSCC(38;0.096)			35	44					0	0	0.819951	0	0	A	110420309	T	A	110420309	2	1	94	1	0	0	0	0	0	0	0	1	12020	1799	63	5		5	PKHD1L1	8	110420309	Silent	SNP	T	TCGA-EJ-8472-01A-11D-2395-08	42296583	110420309	35943713	31	5088											
CYP11B1	0	broad.mit.edu	37	chr8	143960861	143960861	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccagcacgtgctgcactcCttccccatcttccaaaggat	9	9	7	16	1	1	0	0	0	1	0	4	2	4	1	5	1	3	3	5	1	1	2			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr8:143960861C>T	ENST00000377675.3	-	2	281	c.275G>A	c.(274-276)aGg>aAg	p.R92K	CYP11B1_ENST00000292427.4_Intron|CYP11B1_ENST00000517471.1_Intron			P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	80					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	TGCTGCACTCCTTCCCCATCT	0.647									Familial Hyperaldosteronism type I				27	42					0	0	0.693898	0	0	T	143960861	C	T	143960861	3	4	94	1	0	0	0	0	1	0	0	0	4168	696	24	2		2	CYP11B1	8	143960861	Missense_Mutation	SNP	C	TCGA-EJ-8472-01A-11D-2395-08	33540552	143960861	2403161	32	5089											
IFNA16	3449	broad.mit.edu	37	chr9	21216869	21216869	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagagtgattctttgaaagtAtttcctcacagccaggatgg	12	12	10	7	0	2	3	1	2	1	1	3	4	3	4	2	2	1	1	2	2	3	4			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr9:21216869A>G	ENST00000380216.1	-	1	441	c.436T>C	c.(436-438)Tac>Cac	p.Y146H		NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN	interferon, alpha 16	146					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		CTTTGAAAGTATTTCCTCACA	0.463													192	273					0	0	0.870114	0	0	G	21216869	A	G	21216869	3	3	94	1	0	0	0	0	1	0	0	0	7579	449	16	3	137	3	IFNA16	9	21216869	Missense_Mutation	SNP	A	TCGA-EJ-8472-01A-11D-2395-08		21216869	119996562	33	5090											
SUSD1	64420	broad.mit.edu	37	chr9	114840902	114840902	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attgtagttggtacccggacGtaggtccaagcacacctcgg	9	9	12	11	3	0	0	0	0	0	0	2	1	1	1	3	4	2	5	3	4	4	5			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr9:114840902G>A	ENST00000374270.3	-	12	1841	c.1669C>T	c.(1669-1671)Cgt>Tgt	p.R557C	SUSD1_ENST00000374263.3_Missense_Mutation_p.R557C|SUSD1_ENST00000374264.2_Missense_Mutation_p.R557C	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	557						integral to membrane	calcium ion binding		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GTACCCGGACGTAGGTCCAAG	0.498													51	143					0	0	0.870114	0	0	A	114840902	G	A	114840902	3	1	94	1	0	0	0	0	1	0	0	0	15463	1145	40	1	598	1	SUSD1	9	114840902	Missense_Mutation	SNP	G	TCGA-EJ-8472-01A-11D-2395-08	93624033	114840902	26372529	34	5091											
CYP2C8	1558	broad.mit.edu	37	chr10	96827286	96827286	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagaaatatgtgcacctacCaagtcctttagtaattcttt	13	14	5	9	0	1	1	0	0	1	1	2	1	2	1	3	0	2	2	3	0	6	7			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr10:96827286C>A	ENST00000371270.3	-	2	425	c.331_splice	c.e2+1	p.G111_splice	CYP2C8_ENST00000535898.1_Intron|CYP2C8_ENST00000539050.1_5'UTR	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	111					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	GTGCACCTACCAAGTCCTTTA	0.448													21	173					1.50039e-11	1.65926e-11	0.608945	1	0	A	96827286	C	A	96827286	5	1	94	1	0	0	0	0	0	0	1	0	4190	608	21	4	1173	4	CYP2C8	10	96827286	Splice_Site	SNP	C	TCGA-EJ-8472-01A-11D-2395-08		96827286	38707461	35	5092											
HPS6	79803	broad.mit.edu	37	chr10	103826538	103826538	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcacattccgggcacctcAggctctggcctccatcctcc	6	8	8	19	1	2	0	1	0	1	0	6	0	6	0	6	3	1	3	6	3	0	1			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr10:103826538A>C	ENST00000299238.5	+	1	1392	c.1307A>C	c.(1306-1308)cAg>cCg	p.Q436P		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	436						cytosol|early endosome membrane|endoplasmic reticulum|microsome				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		CGGGCACCTCAGGCTCTGGCC	0.622									Hermansky-Pudlak syndrome				24	125					0	0	0.639603	0	0	C	103826538	A	C	103826538	3	2	94	1	0	0	0	0	1	0	0	0	7384	188	7	5	1309	5	HPS6	10	103826538	Missense_Mutation	SNP	A	TCGA-EJ-8472-01A-11D-2395-08	6999252	103826538	31708209	36	5093											
GSTO2	119391	broad.mit.edu	37	chr10	106035064	106035064	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccctattctcacaggaccCgcctcgtcctcaaggccaaa	9	7	7	18	2	2	0	2	0	1	0	5	1	3	1	6	2	0	0	6	2	3	2			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr10:106035064C>A	ENST00000450629.2	+	3	743	c.115C>A	c.(115-117)Cgc>Agc	p.R39S	GSTO2_ENST00000477078.2_Intron|GSTO2_ENST00000429569.2_Missense_Mutation_p.R11S|GSTO2_ENST00000338595.2_Missense_Mutation_p.R39S|GSTO2_ENST00000401888.2_Missense_Mutation_p.R39S|GSTO2_ENST00000369707.1_Missense_Mutation_p.R11S	NM_001191013.1	NP_001177942.1	Q9H4Y5	GSTO2_HUMAN	glutathione S-transferase omega 2	39	GST N-terminal.				water-soluble vitamin metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.178)		Epithelial(162;1.14e-09)|all cancers(201;3.89e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0155)	Glutathione(DB00143)	TCACAGGACCCGCCTCGTCCT	0.622											OREG0020515	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	101					0.217242	0.224404	0.217242	1	0	A	106035064	C	A	106035064	3	1	94	1	0	0	0	0	1	0	0	0	6884	652	23	4	121	4	GSTO2	10	106035064	Missense_Mutation	SNP	C	TCGA-EJ-8472-01A-11D-2395-08	2208526	106035064	29499683	37	5094											
MUC5B	727897	broad.mit.edu	37	chr11	1264675	1264675	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tagggaccacccacacacccCcagtgccgaacaccatggcc	11	3	8	19	1	0	0	0	0	0	0	0	2	0	1	7	2	2	0	7	2	2	1			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr11:1264675C>A	ENST00000447027.1	+	31	6632	c.6574C>A	c.(6574-6576)Cca>Aca	p.P2192T	MUC5B_ENST00000529681.1_Missense_Mutation_p.P2189T|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2189	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCACACACCCCCAGTGCCGAA	0.667													16	7					3.51602e-12	3.98199e-12	0.575678	1	0	A	1264675	C	A	1264675	3	1	94	1	0	0	0	0	1	0	0	0	10027	623	22	4	6696	4	MUC5B	11	1264675	Missense_Mutation	SNP	C	TCGA-EJ-8472-01A-11D-2395-08		1264675	133741841	38	5095											
ARL2	402	broad.mit.edu	37	chr11	64787952	64787952	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggacctgcctggagcactgtCctctaacgccatccgcgagg	7	7	12	15	3	1	0	0	0	1	0	3	3	3	2	5	3	3	1	5	3	1	1			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr11:64787952C>T	ENST00000246747.4	+	4	496	c.401C>T	c.(400-402)tCc>tTc	p.S134F	ARL2_ENST00000529384.1_Missense_Mutation_p.S134F|SNX15_ENST00000301886.3_Intron|ARL2_ENST00000533729.1_Intron	NM_001667.3	NP_001658.2	P36404	ARL2_HUMAN	ADP-ribosylation factor-like 2	134					cell cycle|centrosome organization|maintenance of protein location in nucleus|negative regulation of GTPase activity|positive regulation of cell-substrate adhesion|positive regulation of microtubule polymerization|small GTPase mediated signal transduction|tight junction assembly|tubulin complex assembly	centrosome|lateral plasma membrane|mitochondrial intermembrane space|nucleus	GTP binding|GTPase activity|GTPase inhibitor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	5						GGAGCACTGTCCTCTAACGCC	0.532													8	22					0	0	0.411799	0	0	T	64787952	C	T	64787952	3	4	94	1	0	0	0	0	1	0	0	0	932	855	30	2	415	2	ARL2	11	64787952	Missense_Mutation	SNP	C	TCGA-EJ-8472-01A-11D-2395-08	63523277	64787952	70218564	39	5096											
CD248	57124	broad.mit.edu	37	chr11	66084381	66084381	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccaggaaggtgcggcgccGtgggaagagagcgtagcagc	9	4	18	10	4	0	1	0	0	0	1	1	4	1	3	2	4	4	2	2	4	3	1			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr11:66084381G>A	ENST00000311330.3	-	1	134	c.118C>T	c.(118-120)Cgg>Tgg	p.R40W	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	40	C-type lectin.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	GTGCGGCGCCGTGGGAAGAGA	0.766													16	23					0	0	0.608945	0	0	A	66084381	G	A	66084381	3	1	94	1	0	0	0	0	1	0	0	0	3011	1144	40	1	2159	1	CD248	11	66084381	Missense_Mutation	SNP	G	TCGA-EJ-8472-01A-11D-2395-08	1296429	66084381	68922135	40	5097											
KRTAP5-7	440050	broad.mit.edu	37	chr11	71238615	71238615	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaggggggctgtggttcttGtggctgctcccagtgcagct	4	12	16	9	0	1	0	0	0	1	0	2	0	2	0	1	5	3	6	1	5	1	3			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr11:71238615G>A	ENST00000398536.4	+	1	303	c.269G>A	c.(268-270)tGt>tAt	p.C90Y		NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	90	7 X 4 AA repeats of C-C-X-P.					keratin filament				breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						TGTGGTTCTTGTGgctgctcc	0.647													6	459					0	0	0.335167	0	0	A	71238615	G	A	71238615	3	1	94	1	0	0	0	0	1	0	0	0	8605	1377	48	2	271	2	KRTAP5-7	11	71238615	Missense_Mutation	SNP	G	TCGA-EJ-8472-01A-11D-2395-08	5154234	71238615	63767901	41	5098											
ADAMTS15	170689	broad.mit.edu	37	chr11	130340830	130340830	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctagcctccggaaagagctTccgggaggagcagtgtgagg	9	6	16	10	2	0	2	0	1	0	1	2	5	2	5	4	4	3	2	4	4	2	2			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr11:130340830T>C	ENST00000299164.2	+	6	1736	c.1736T>C	c.(1735-1737)tTc>tCc	p.F579S		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	579	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		GGAAAGAGCTTCCGGGAGGAG	0.612													95	231					0	0	0.870114	0	0	C	130340830	T	C	130340830	3	2	94	1	0	0	0	0	1	0	0	0	259	1783	62	3	1758	3	ADAMTS15	11	130340830	Missense_Mutation	SNP	T	TCGA-EJ-8472-01A-11D-2395-08	59102215	130340830	4665686	42	5099											
GCN1L1	10985	broad.mit.edu	37	chr12	120602289	120602289	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcaccgccaccagagcccGgtggtactgcctgcaagcac	9	4	12	16	2	0	1	0	0	0	1	0	2	0	1	5	2	6	4	5	2	2	1			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr12:120602289G>A	ENST00000300648.6	-	18	1711	c.1699C>T	c.(1699-1701)Cgg>Tgg	p.R567W		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	567					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACCAGAGCCCGGTGGTACTGC	0.632													53	87					0	0	0.870114	0	0	A	120602289	G	A	120602289	3	1	94	1	0	0	0	0	1	0	0	0	6339	1115	39	1	6480	1	GCN1L1	12	120602289	Missense_Mutation	SNP	G	TCGA-EJ-8472-01A-11D-2395-08		120602289	13249606	43	5100											
COG6	57511	broad.mit.edu	37	chr13	40239254	40239254	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagcaaaggaacagactcaaGatttaatagtaaaaaccact	20	7	6	8	0	1	2	1	0	0	2	1	3	1	3	1	1	3	2	1	1	8	4			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr13:40239254G>A	ENST00000416691.1	+	4	491	c.391G>A	c.(391-393)Gat>Aat	p.D131N	COG6_ENST00000455146.3_Missense_Mutation_p.D131N	NM_001145079.1	NP_001138551.1	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6	131					protein transport	Golgi membrane|Golgi transport complex				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		ACAGACTCAAGATTTAATAGT	0.274													42	44					0	0	0.870114	0	0	A	40239254	G	A	40239254	3	1	94	1	0	0	0	0	1	0	0	0	3685	942	33	2	405	2	COG6	13	40239254	Missense_Mutation	SNP	G	TCGA-EJ-8472-01A-11D-2395-08		40239254	74930624	44	5101											
DEGS2	123099	broad.mit.edu	37	chr14	100613165	100613165	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agggccccagggagtcctcaAacacaaaatcccagagcacc	14	3	9	15	0	1	1	1	0	0	1	3	2	3	2	5	2	2	1	5	2	3	0			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr14:100613165A>G	ENST00000305631.5	-	3	1480	c.905T>C	c.(904-906)tTt>tCt	p.F302S	DEGS2_ENST00000553834.1_Silent_p.V54V	NM_206918.2	NP_996801.2	Q6QHC5	DEGS2_HUMAN	delta(4)-desaturase, sphingolipid 2	302					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	sphingosine hydroxylase activity			breast(1)|lung(6)|skin(1)	8		Melanoma(154;0.212)				GGAGTCCTCAAACACAAAATC	0.632													59	108					0	0	0.870114	0	0	G	100613165	A	G	100613165	3	3	94	1	0	0	0	0	1	0	0	0	4451	14	1	3	70	3	DEGS2	14	100613165	Missense_Mutation	SNP	A	TCGA-EJ-8472-01A-11D-2395-08		100613165	6736375	45	5102											
UNC13C	440279	broad.mit.edu	37	chr15	54306249	54306249	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atacttgtgtactttgaaacCcctcaacaaagggattctgt	12	13	7	9	0	2	1	1	1	1	0	2	2	2	2	2	1	4	1	2	1	5	5			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr15:54306249C>G	ENST00000545554.1	+	1	1149	c.1149C>G	c.(1147-1149)acC>acG	p.T383T	UNC13C_ENST00000260323.11_Silent_p.T383T|UNC13C_ENST00000537900.1_Silent_p.T383T			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	383					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ACTTTGAAACCCCTCAACAAA	0.388													14	89					0	0	0.435327	0	0	G	54306249	C	G	54306249	2	3	94	1	0	0	0	0	0	0	0	1	17046	610	22	4		4	UNC13C	15	54306249	Silent	SNP	C	TCGA-EJ-8472-01A-11D-2395-08		54306249	48225143	46	5103											
MEF2A	0	broad.mit.edu	37	chr15	100230590	100230590	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagtaggaaaccagatcttcGagttgtcatccccccttcaa	11	10	7	13	1	3	1	2	0	1	1	5	3	4	2	4	1	1	2	4	1	3	4			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr15:100230590G>A	ENST00000354410.5	+	8	1450	c.821G>A	c.(820-822)cGa>cAa	p.R274Q	MEF2A_ENST00000558812.1_Missense_Mutation_p.R204Q|MEF2A_ENST00000449277.2_Missense_Mutation_p.R204Q|MEF2A_ENST00000338042.6_Missense_Mutation_p.R272Q|MEF2A_ENST00000453228.2_Missense_Mutation_p.R272Q|MEF2A_ENST00000557942.1_Missense_Mutation_p.R272Q|MEF2A_ENST00000557785.1_Missense_Mutation_p.R272Q	NM_005587.2	NP_005578.2	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	274	Required for interaction with MAPKs.				apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|ventricular cardiac myofibril development	nuclear chromatin|nucleoplasm	activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			CCAGATCTTCGAGTTGTCATC	0.433													22	25					0	0	0.667858	0	0	A	100230590	G	A	100230590	3	1	94	1	0	0	0	0	1	0	0	0	9505	1058	37	1	979	1	MEF2A	15	100230590	Missense_Mutation	SNP	G	TCGA-EJ-8472-01A-11D-2395-08	45924341	100230590	2300802	47	5104											
SALL1	6299	broad.mit.edu	37	chr16	51173983	51173983	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcattttcaaggcgctctggCagctgagaacccggtggcag	8	8	14	11	2	2	1	1	1	1	1	2	2	2	1	1	4	2	5	1	4	2	2			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr16:51173983C>G	ENST00000440970.1	-	2	2290	c.1859G>C	c.(1858-1860)tGc>tCc	p.C620S	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.C717S	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	717					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GGCGCTCTGGCAGCTGAGAAC	0.517													50	86					0	0	0.870114	0	0	G	51173983	C	G	51173983	3	3	94	1	0	0	0	0	1	0	0	0	13862	710	25	4	1832	4	SALL1	16	51173983	Missense_Mutation	SNP	C	TCGA-EJ-8472-01A-11D-2395-08		51173983	39180770	48	5105											
CHST6	4166	broad.mit.edu	37	chr16	75513511	75513511	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggtccacacgtgccacgcGggctccattaggtagaagac	9	7	13	12	3	0	2	0	0	0	2	2	2	2	2	3	3	1	2	3	3	3	2			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr16:75513511G>A	ENST00000332272.4	-	3	395	c.216C>T	c.(214-216)ccC>ccT	p.P72P	CHST6_ENST00000390664.2_Silent_p.P72P|RP11-77K12.4_ENST00000530512.3_RNA	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	72			P -> S (in MCD).		keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CGTGCCACGCGGGCTCCATTA	0.667													22	19					0	0	0.639603	0	0	A	75513511	G	A	75513511	2	1	94	1	0	0	0	0	0	0	0	1	3430	1103	39	1		1	CHST6	16	75513511	Silent	SNP	G	TCGA-EJ-8472-01A-11D-2395-08	24339528	75513511	14841242	49	5106											
TP53	7157	broad.mit.edu	37	chr17	7578253	7578253	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aatactccacacgcaaatttCcttccactcggataagatgc	13	10	5	13	2	0	1	0	0	0	1	4	2	3	2	3	1	2	1	3	1	4	4			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr17:7578253C>A	ENST00000420246.2	-	6	728	c.596G>T	c.(595-597)gGa>gTa	p.G199V	TP53_ENST00000455263.2_Missense_Mutation_p.G199V|TP53_ENST00000413465.2_Missense_Mutation_p.G199V|TP53_ENST00000445888.2_Missense_Mutation_p.G199V|TP53_ENST00000359597.4_Missense_Mutation_p.G199V|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.G199V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	199	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		G -> A (in a sporadic cancer; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G199E(11)|p.G199V(11)|p.0?(8)|p.?(5)|p.G106V(2)|p.G67V(2)|p.E198_L201>V(1)|p.N200fs*4(1)|p.E198fs*7(1)|p.G199A(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.G199fs*48(1)|p.G199fs*42(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)		ACGCAAATTTCCTTCCACTCG	0.542		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			27	53					4.74835e-14	5.51044e-14	0.750413	1	0	A	7578253	C	A	7578253	3	1	94	1	0	0	0	0	1	0	0	0	16442	855	30	4	698	4	TP53	17	7578253	Missense_Mutation	SNP	C	TCGA-EJ-8472-01A-11D-2395-08		7578253	73616957	50	5107											
TP53	7157	broad.mit.edu	37	chr17	7578461	7578461	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagatggccatggcgcggaCgcgggtgccgggcgggggtg	4	5	23	9	6	0	1	0	0	0	1	0	2	0	2	2	7	1	1	2	7	1	1	rs121912654		TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr17:7578461C>A	ENST00000420246.2	-	5	601	c.469G>T	c.(469-471)Gtc>Ttc	p.V157F	TP53_ENST00000455263.2_Missense_Mutation_p.V157F|TP53_ENST00000413465.2_Missense_Mutation_p.V157F|TP53_ENST00000445888.2_Missense_Mutation_p.V157F|TP53_ENST00000359597.4_Missense_Mutation_p.V157F|TP53_ENST00000269305.4_Missense_Mutation_p.V157F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	157	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V157F(161)|p.V157I(10)|p.0?(8)|p.V157L(6)|p.V64F(6)|p.V25F(6)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157fs*24(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156_V157del(1)|p.R156_V157insV(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.D148fs*23(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.V157fs*25(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)		ATGGCGCGGACGCGGGTGCCG	0.617		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)			46	73					2.55665e-31	3.08109e-31	0.870114	1	0	A	7578461	C	A	7578461	3	1	94	1	0	0	0	0	1	0	0	0	16442	536	19	4	829	4	TP53	17	7578461	Missense_Mutation	SNP	C	TCGA-EJ-8472-01A-11D-2395-08	208	7578461	73616749	51	5108											
ARHGEF15	22899	broad.mit.edu	37	chr17	8215726	8215726	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtccccccacccaagccGtctgggtcaccctgcacgcc	6	5	8	22	2	2	0	1	0	1	0	3	0	3	0	8	1	2	1	8	1	1	0			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr17:8215726G>A	ENST00000361926.3	+	2	479	c.369G>A	c.(367-369)ccG>ccA	p.P123P	ARHGEF15_ENST00000421050.1_Silent_p.P123P	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	123	Pro-rich.				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CACCCAAGCCGTCTGGGTCAC	0.682													21	271					0	0	0.592651	0	0	A	8215726	G	A	8215726	2	1	94	1	0	0	0	0	0	0	0	1	895	1132	40	1		1	ARHGEF15	17	8215726	Silent	SNP	G	TCGA-EJ-8472-01A-11D-2395-08	637265	8215726	72979484	52	5109											
FEM1A	55527	broad.mit.edu	37	chr19	4792977	4792977	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaccgacccggatgagatgCgcatgcaggccctgttgatc	8	8	12	13	3	1	2	1	2	0	1	2	5	1	3	3	2	2	3	3	2	0	1			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr19:4792977C>T	ENST00000269856.3	+	1	1250	c.1111C>T	c.(1111-1113)Cgc>Tgc	p.R371C	AC005523.2_ENST00000601192.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	371					regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GGATGAGATGCGCATGCAGGC	0.632													61	61					0	0	0.870114	0	0	T	4792977	C	T	4792977	3	4	94	1	0	0	0	0	1	0	0	0	5842	768	27	1	1113	1	FEM1A	19	4792977	Missense_Mutation	SNP	C	TCGA-EJ-8472-01A-11D-2395-08		4792977	54336006	53	5110											
CYP2F1	1572	broad.mit.edu	37	chr19	41626275	41626275	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgccttctccagtggggatCgatggaaggtcctgagacag	8	9	14	10	2	1	1	0	1	1	1	5	5	2	3	3	4	0	0	3	4	1	1			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr19:41626275C>T	ENST00000331105.2	+	4	430	c.358C>T	c.(358-360)Cga>Tga	p.R120*		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	120					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.R120*(1)		central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						CAGTGGGGATCGATGGAAGGT	0.562													63	111					0	0	0.870114	0	0	T	41626275	C	T	41626275	4	4	94	1	0	0	0	0	0	1	0	0	4194	876	31	1	368	1	CYP2F1	19	41626275	Nonsense_Mutation	SNP	C	TCGA-EJ-8472-01A-11D-2395-08	36833298	41626275	17502708	54	5111											
MEGF8	1954	broad.mit.edu	37	chr19	42865114	42865114	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtaaccagtctggggcctgCacctggtgccatggggcctg	5	9	15	12	0	1	0	0	0	1	0	1	0	1	0	5	5	3	2	5	5	1	1			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr19:42865114C>G	ENST00000334370.4	+	31	6110	c.5475C>G	c.(5473-5475)tgC>tgG	p.C1825W	MEGF8_ENST00000251268.6_Missense_Mutation_p.C1892W	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1892						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CTGGGGCCTGCACCTGGTGCC	0.672													39	67					0	0	0.840704	0	0	G	42865114	C	G	42865114	3	3	94	1	0	0	0	0	1	0	0	0	9513	718	25	4	5597	4	MEGF8	19	42865114	Missense_Mutation	SNP	C	TCGA-EJ-8472-01A-11D-2395-08	1238839	42865114	16263869	55	5112											
PLCB4	5332	broad.mit.edu	37	chr20	9360791	9360791	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgagatgtatgaacctgatGaagatttgaagaaaaaaggt	17	11	11	2	0	0	7	0	5	0	3	0	8	0	7	1	1	1	1	1	1	7	3			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr20:9360791G>A	ENST00000378501.2	+	10	850	c.835G>A	c.(835-837)Gaa>Aaa	p.E279K	PLCB4_ENST00000378493.1_Missense_Mutation_p.E279K|PLCB4_ENST00000378473.3_Missense_Mutation_p.E279K|PLCB4_ENST00000278655.4_Missense_Mutation_p.E279K|PLCB4_ENST00000414679.2_Missense_Mutation_p.E279K|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Missense_Mutation_p.E279K	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	279					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TGAACCTGATGAAGATTTGAA	0.299													16	44					0	0	0.557998	0	0	A	9360791	G	A	9360791	3	1	94	1	0	0	0	0	1	0	0	0	12078	1291	45	2	873	2	PLCB4	20	9360791	Missense_Mutation	SNP	G	TCGA-EJ-8472-01A-11D-2395-08		9360791	53664729	56	5113											
BAGE2	85319	broad.mit.edu	37	chr21	11085940	11085942	+	RNA	DEL	CAC	CAC	-																															accaccaccaccaccaccatCaccaccaccaccaccatcaa																										TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chr21:11085940_11085942delCAC	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)		ccaccaccatcaccaccaccacc	0.532													2	4	---	---	---	---						-	11085942	CAC	-	11085940	6	5	94	0	1	1	0	1	0	0	0	0	1290	841	29	0		0	BAGE2	21	11085940	RNA	DEL	CAC	TCGA-EJ-8472-01A-11D-2395-08		11085940	37043955	57	5114											
CXorf22	170063	broad.mit.edu	37	chrX	36007559	36007559	+	Frame_Shift_Del	DEL	T	T	-																															cgcgttgaagctaaaatgtgTtgcacatgtaattattttcc																										TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chrX:36007559delT	ENST00000297866.5	+	16	2903	c.2837delT	c.(2836-2838)gtfs	p.V946fs		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	946										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						CTAAAATGTGTTGCACATGTA	0.363													38	14	---	---	---	---						-	36007559	T	-	36007559	7	5	94	1	0	1	0	1	0	0	0	0	4125	1725	60	0	2899	0	CXorf22	23	36007559	Frame_Shift_Del	DEL	T	TCGA-EJ-8472-01A-11D-2395-08		36007559	119263001	58	5115											
HTR2C	3358	broad.mit.edu	37	chrX	113965913	113965913	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggcagtaagcatggaaaaGaaactgcacaatgccaccaa	18	5	9	9	0	0	1	0	0	0	1	0	2	0	2	2	2	4	4	2	2	6	1			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chrX:113965913G>A	ENST00000276198.1	+	4	974	c.246G>A	c.(244-246)aaG>aaA	p.K82K	HTR2C_ENST00000371950.3_Silent_p.K82K|HTR2C_ENST00000371951.1_Silent_p.K82K	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	82					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	p.K82N(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	GCATGGAAAAGAAACTGCACA	0.448													36	68					0	0	0.788014	0	0	A	113965913	G	A	113965913	2	1	94	1	0	0	0	0	0	0	0	1	7487	933	33	2		2	HTR2C	23	113965913	Silent	SNP	G	TCGA-EJ-8472-01A-11D-2395-08	77958354	113965913	41304647	59	5116											
SLITRK2	84631	broad.mit.edu	37	chrX	144906346	144906346	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caagacagaatcaataaaacCgttttatatggaactcccag	17	9	6	9	1	1	2	1	0	0	2	2	3	2	3	2	1	2	1	2	1	8	4			TCGA-EJ-8472-01A-11D-2395-08	TCGA-EJ-8472-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88471574-de05-44b5-a205-0a9a7a09c8a7	67774a5a-071c-4f47-93de-783d4e514308	g.chrX:144906346C>T	ENST00000370490.1	+	1	6658	c.2403C>T	c.(2401-2403)acC>acT	p.T801T	SLITRK2_ENST00000413937.2_Silent_p.T801T|SLITRK2_ENST00000447897.2_Silent_p.T801T|SLITRK2_ENST00000434188.2_Silent_p.T801T|SLITRK2_ENST00000428560.2_Silent_p.T801T			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	801						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TCAATAAAACCGTTTTATATG	0.468													7	153					0	0	0.27861	0	0	T	144906346	C	T	144906346	2	4	94	1	0	0	0	0	0	0	0	1	14797	639	23	1		1	SLITRK2	23	144906346	Silent	SNP	C	TCGA-EJ-8472-01A-11D-2395-08	30940433	144906346	10364214	60	5117											
ARHGEF19	128272	broad.mit.edu	37	chr1	16534595	16534595	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cactcgggtggacccagacaActccaccctgggctcctctg	7	7	10	17	1	1	1	0	0	1	1	4	2	3	2	4	3	1	1	4	3	1	0			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr1:16534595A>G	ENST00000270747.3	-	3	674	c.538T>C	c.(538-540)Ttg>Ctg	p.L180L	ARHGEF19_ENST00000421561.1_Silent_p.L180L	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	180					regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		GACCCAGACAACTCCACCCTG	0.667													4	100					0	0	1	0	0	G	16534595	A	G	16534595	2	3	95	1	0	0	0	0	0	0	0	1	899	40	2	3		3	ARHGEF19	1	16534595	Silent	SNP	A	TCGA-EJ-8474-01A-11D-2395-08		16534595	232716026	1	5118											
PTPRU	10076	broad.mit.edu	37	chr1	29644362	29644362	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatggacgtcctgccgcccGaccgctgcctgcccttcctc	3	8	10	20	4	0	0	0	0	0	0	3	2	2	1	7	1	3	2	7	1	0	1			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr1:29644362G>T	ENST00000356870.3	+	26	3744	c.3634G>T	c.(3634-3636)Gac>Tac	p.D1212Y	PTPRU_ENST00000345512.3_Missense_Mutation_p.D1216Y|PTPRU_ENST00000460170.2_Missense_Mutation_p.D1212Y|PTPRU_ENST00000428026.2_Missense_Mutation_p.D1203Y|PTPRU_ENST00000373779.3_Missense_Mutation_p.D1206Y|PTPRU_ENST00000323874.8_Missense_Mutation_p.D1212Y	NM_133177.3	NP_573438.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1216	Tyrosine-protein phosphatase 2.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CCTGCCGCCCGACCGCTGCCT	0.637													17	90					1.99824e-07	2.15901e-07	1	1	0	T	29644362	G	T	29644362	3	4	95	1	0	0	0	0	1	0	0	0	12865	1058	37	4	3770	4	PTPRU	1	29644362	Missense_Mutation	SNP	G	TCGA-EJ-8474-01A-11D-2395-08	13109767	29644362	219606259	2	5119											
BEST4	266675	broad.mit.edu	37	chr1	45253307	45253307	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgtagatgcttcccctcCagcggagaagcaggccagag	9	7	13	12	1	0	3	0	0	0	3	2	4	2	3	4	2	3	4	4	2	2	3			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr1:45253307C>T	ENST00000372207.3	-	1	70	c.71G>A	c.(70-72)tGg>tAg	p.W24*		NM_153274.2	NP_695006.1	Q8NFU0	BEST4_HUMAN	bestrophin 4	24						chloride channel complex|plasma membrane	chloride channel activity			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)					GCTTCCCCTCCAGCGGAGAAG	0.572													26	215					0	0	1	0	0	T	45253307	C	T	45253307	4	4	95	1	0	0	0	0	0	1	0	0	1405	595	21	2	1386	2	BEST4	1	45253307	Nonsense_Mutation	SNP	C	TCGA-EJ-8474-01A-11D-2395-08	15608945	45253307	203997314	3	5120											
KANK4	163782	broad.mit.edu	37	chr1	62739197	62739197	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgctgggggagtctttctgtCgctgccccacagaaagcctc	6	10	12	13	1	2	1	0	0	2	1	4	2	2	2	3	2	3	2	3	2	1	1			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr1:62739197C>T	ENST00000371153.4	-	3	1957	c.1579G>A	c.(1579-1581)Gac>Aac	p.D527N	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	527										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GTCTTTCTGTCGCTGCCCCAC	0.602													28	74					0	0	1	0	0	T	62739197	C	T	62739197	3	4	95	1	0	0	0	0	1	0	0	0	8023	884	31	1	1440	1	KANK4	1	62739197	Missense_Mutation	SNP	C	TCGA-EJ-8474-01A-11D-2395-08	17485890	62739197	186511424	4	5121											
EVI5	7813	broad.mit.edu	37	chr1	92979385	92979385	+	Frame_Shift_Del	DEL	C	C	-																															cgtgcaaaggaaaaccaacaCcagtttcctgtaaggaatta																								rs146602523		TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr1:92979385delC	ENST00000370331.1	-	18	2270	c.2261delG	c.(2260-2262)gtfs	p.G754fs	EVI5_ENST00000543509.1_Frame_Shift_Del_p.G765fs|EVI5_ENST00000540033.1_Frame_Shift_Del_p.G754fs	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	754	Interaction with AURKB and INCENP.|Targeting to the centrosomes.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		AAAACCAACACCAGTTTCCTG	0.433													36	79	---	---	---	---						-	92979385	C	-	92979385	7	5	95	1	0	1	0	1	0	0	0	0	5317	507	18	0	175	0	EVI5	1	92979385	Frame_Shift_Del	DEL	C	TCGA-EJ-8474-01A-11D-2395-08	30240188	92979385	156271236	5	5122											
MAGI3	260425	broad.mit.edu	37	chr1	114201721	114201721	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gttattcctcataaaattggCcgagtcatagaaggaagtcc	13	11	9	8	1	2	1	2	0	0	1	4	3	4	2	3	2	0	1	3	2	6	5			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr1:114201721C>T	ENST00000369615.1	+	16	2711	c.2649C>T	c.(2647-2649)ggC>ggT	p.G883G	MAGI3_ENST00000307546.9_Silent_p.G883G|MAGI3_ENST00000369617.4_Silent_p.G908G|MAGI3_ENST00000369611.4_Silent_p.G883G	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	908	Interaction with LPAR2 and GRIN2B.|PDZ 5.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATAAAATTGGCCGAGTCATAG	0.378													4	111					0	0	1	0	0	T	114201721	C	T	114201721	2	4	95	1	0	0	0	0	0	0	0	1	9242	726	26	2		2	MAGI3	1	114201721	Silent	SNP	C	TCGA-EJ-8474-01A-11D-2395-08	21222336	114201721	135048900	6	5123											
SPRR1A	6698	broad.mit.edu	37	chr1	152957847	152957847	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccaccccaaggtgcctgaGccctgccaccccaaagtgcc	8	5	9	19	0	0	1	0	1	0	0	0	1	0	1	9	1	5	0	9	1	2	0			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr1:152957847G>T	ENST00000307122.2	+	2	205	c.141G>T	c.(139-141)gaG>gaT	p.E47D	SPRR1A_ENST00000368762.1_Missense_Mutation_p.E47D	NM_001199828.1|NM_005987.3	NP_001186757.1|NP_005978.2	P35321	SPR1A_HUMAN	small proline-rich protein 1A	47	6 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(2)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)	7	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGGTGCCTGAGCCCTGCCACC	0.642													21	250					2.4624e-09	2.69146e-09	1	1	0	T	152957847	G	T	152957847	3	4	95	1	0	0	0	0	1	0	0	0	15151	962	34	4	143	4	SPRR1A	1	152957847	Missense_Mutation	SNP	G	TCGA-EJ-8474-01A-11D-2395-08	38756126	152957847	96292774	7	5124											
SHC1	6464	broad.mit.edu	37	chr1	154941890	154941890	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgttgaagtccagggcaCgcattgactggaggacctcc	8	8	15	10	1	0	2	0	2	0	0	2	4	2	4	3	4	0	3	3	4	1	2			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr1:154941890C>T	ENST00000448116.2	-	2	750	c.530G>A	c.(529-531)cGt>cAt	p.R177H	SHC1_ENST00000368445.5_Missense_Mutation_p.R177H|SHC1_ENST00000368449.4_Intron|SHC1_ENST00000606391.1_Intron|SHC1_ENST00000368453.4_Missense_Mutation_p.R67H|SHC1_ENST00000368450.1_Missense_Mutation_p.R67H	NM_001130040.1	NP_001123512.1	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	177	PID.				activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GTCCAGGGCACGCATTGACTG	0.602													6	35					0	0	1	0	0	T	154941890	C	T	154941890	3	4	95	1	0	0	0	0	1	0	0	0	14325	536	19	1	1268	1	SHC1	1	154941890	Missense_Mutation	SNP	C	TCGA-EJ-8474-01A-11D-2395-08	1984043	154941890	94308731	8	5125											
FCRL3	115352	broad.mit.edu	37	chr1	157666077	157666077	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttcaatcagctgccctccGgtgggccggatctctagatt	6	11	10	14	2	3	1	2	0	1	1	5	2	4	2	4	3	2	1	4	3	2	3			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr1:157666077G>A	ENST00000368184.3	-	7	1176	c.885C>T	c.(883-885)acC>acT	p.T295T	FCRL3_ENST00000368186.5_Silent_p.T295T|FCRL3_ENST00000473231.1_5'UTR|RP11-367J7.3_ENST00000453692.1_RNA	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	295	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity	p.T295T(1)		autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GCTGCCCTCCGGTGGGCCGGA	0.517													16	157					0	0	1	0	0	A	157666077	G	A	157666077	2	1	95	1	0	0	0	0	0	0	0	1	5829	1103	39	1		1	FCRL3	1	157666077	Silent	SNP	G	TCGA-EJ-8474-01A-11D-2395-08	2724187	157666077	91584544	9	5126											
OR6N2	81442	broad.mit.edu	37	chr1	158746588	158746588	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attgaccattggtgttagtaCggagtaaactatagcaagtg	13	12	11	5	1	0	1	0	1	0	0	0	2	0	2	1	2	3	4	1	2	7	7			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr1:158746588C>T	ENST00000339258.1	-	1	837	c.838G>A	c.(838-840)Gta>Ata	p.V280I		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V280I(1)		endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					GGTGTTAGTACGGAGTAAACT	0.423													8	117					0	0	1	0	0	T	158746588	C	T	158746588	3	4	95	1	0	0	0	0	1	0	0	0	11254	536	19	1	118	1	OR6N2	1	158746588	Missense_Mutation	SNP	C	TCGA-EJ-8474-01A-11D-2395-08	1080511	158746588	90504033	10	5127											
SLAMF6	114836	broad.mit.edu	37	chr1	160466146	160466146	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccccagaatcccgttcacCatcaatggggttaagctgct	9	10	8	14	1	2	1	2	0	0	1	4	1	4	1	4	2	2	4	4	2	3	2			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr1:160466146C>T	ENST00000368059.3	-	2	156	c.87G>A	c.(85-87)atG>atA	p.M29I	SLAMF6_ENST00000368057.3_Missense_Mutation_p.M29I|SLAMF6_ENST00000368055.1_Intron	NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4	NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1	Q96DU3	SLAF6_HUMAN	SLAM family member 6	29						integral to membrane|plasma membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			TCCCGTTCACCATCAATGGGG	0.458													8	283					0	0	1	0	0	T	160466146	C	T	160466146	3	4	95	1	0	0	0	0	1	0	0	0	14423	594	21	2	939	2	SLAMF6	1	160466146	Missense_Mutation	SNP	C	TCGA-EJ-8474-01A-11D-2395-08	1719558	160466146	88784475	11	5128											
OSR1	130497	broad.mit.edu	37	chr2	19553372	19553372	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actttggagaaagaagagcgCggcaagtgcatggccgggta	12	6	16	7	3	0	3	0	0	0	3	0	4	0	3	1	4	2	3	1	4	4	2			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr2:19553372C>T	ENST00000536433.1	-	1	3305	c.195G>A	c.(193-195)ccG>ccA	p.P65P	OSR1_ENST00000272223.2_Silent_p.P65P			Q8TAX0	OSR1_HUMAN	odd-skipped related transciption factor 1	65					chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development	nucleolus	nucleic acid binding|zinc ion binding			breast(1)|large_intestine(2)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				AAGAAGAGCGCGGCAAGTGCA	0.612													5	57					0	0	1	0	0	T	19553372	C	T	19553372	2	4	95	1	0	0	0	0	0	0	0	1	11340	755	27	1		1	OSR1	2	19553372	Silent	SNP	C	TCGA-EJ-8474-01A-11D-2395-08		19553372	223646001	12	5129											
DPYSL5	56896	broad.mit.edu	37	chr2	27169828	27169828	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagcttcagctcggatcctcGctcctcccggaggcaggtcg	5	8	13	15	4	1	0	1	0	0	0	7	3	4	2	3	4	2	4	3	4	0	1			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr2:27169828G>A	ENST00000288699.6	+	13	1818	c.1660G>A	c.(1660-1662)Gct>Act	p.A554T	DPYSL5_ENST00000401478.1_Missense_Mutation_p.A554T	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	554					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCGGATCCTCGCTCCTCCCGG	0.617													10	37					0	0	1	0	0	A	27169828	G	A	27169828	3	1	95	1	0	0	0	0	1	0	0	0	4776	1087	38	1	1706	1	DPYSL5	2	27169828	Missense_Mutation	SNP	G	TCGA-EJ-8474-01A-11D-2395-08	7616456	27169828	216029545	13	5130											
KCNH7	90134	broad.mit.edu	37	chr2	163291905	163291905	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcctaaggaatccaaccatCcgattttgtcagtcaggtaa	12	11	8	10	1	2	0	2	0	0	0	5	2	5	1	4	2	1	1	4	2	4	4	rs149070457		TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr2:163291905C>A	ENST00000332142.5	-	8	1856	c.1757G>T	c.(1756-1758)gGa>gTa	p.G586V	KCNH7_ENST00000328032.4_Missense_Mutation_p.G579V	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	586					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	p.G586E(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	ATCCAACCATCCGATTTTGTC	0.433													5	136					0.184627	0.184627	1	1	0	A	163291905	C	A	163291905	3	1	95	1	0	0	0	0	1	0	0	0	8081	855	30	4	1935	4	KCNH7	2	163291905	Missense_Mutation	SNP	C	TCGA-EJ-8474-01A-11D-2395-08	136122077	163291905	79907468	14	5131											
SCN9A	6335	broad.mit.edu	37	chr2	167133601	167133601	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccactctccacacagcacGcggaacacaatcaggaagga	15	4	8	14	2	2	0	1	0	1	0	4	3	3	3	2	3	2	1	2	3	3	0	rs142070305	by1000genomes	TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr2:167133601G>A	ENST00000303354.6	-	16	3109	c.2769C>T	c.(2767-2769)cgC>cgT	p.R923R	SCN9A_ENST00000375387.4_Silent_p.R923R|SCN9A_ENST00000409672.1_Silent_p.R911R|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409435.1_Silent_p.R922R			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	922						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CACACAGCACGCGGAACACAA	0.483													28	276					0	0	1	0	0	A	167133601	G	A	167133601	2	1	95	1	0	0	0	0	0	0	0	1	13979	1074	38	1		1	SCN9A	2	167133601	Silent	SNP	G	TCGA-EJ-8474-01A-11D-2395-08	3841696	167133601	76065772	15	5132											
ADAM23	8745	broad.mit.edu	37	chr2	207435477	207435477	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttagctatttgagcccaCggaatgtggaaatggatacg	11	12	11	7	2	1	1	0	1	1	0	1	4	1	4	1	3	3	1	1	3	5	5			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr2:207435477C>T	ENST00000264377.3	+	16	1836	c.1508C>T	c.(1507-1509)aCg>aTg	p.T503M	ADAM23_ENST00000374415.3_Missense_Mutation_p.T503M|ADAM23_ENST00000374416.1_Missense_Mutation_p.T503M	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	503	Disintegrin.				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		TTTGAGCCCACGGAATGTGGA	0.418													7	51					0	0	1	0	0	T	207435477	C	T	207435477	3	4	95	1	0	0	0	0	1	0	0	0	244	536	19	1	1570	1	ADAM23	2	207435477	Missense_Mutation	SNP	C	TCGA-EJ-8474-01A-11D-2395-08	40301876	207435477	35763896	16	5133											
PID1	55022	broad.mit.edu	37	chr2	229890607	229890607	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggcggtgcagtaggcgatgCgggccacctggaaggtatcc	7	6	17	11	4	0	0	0	0	0	0	1	2	1	1	3	6	2	3	3	6	3	2			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr2:229890607C>T	ENST00000392054.3	-	4	827	c.488G>A	c.(487-489)cGc>cAc	p.R163H	PID1_ENST00000482518.2_Intron|PID1_ENST00000354069.6_Missense_Mutation_p.R165H|PID1_ENST00000409462.1_Missense_Mutation_p.R83H|PID1_ENST00000392055.3_Missense_Mutation_p.R132H	NM_017933.4	NP_060403.3	Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	165	PID.					cytoplasm				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		GTAGGCGATGCGGGCCACCTG	0.582													6	145					0	0	1	0	0	T	229890607	C	T	229890607	3	4	95	1	0	0	0	0	1	0	0	0	11930	768	27	1	262	1	PID1	2	229890607	Missense_Mutation	SNP	C	TCGA-EJ-8474-01A-11D-2395-08	22455130	229890607	13308766	17	5134											
SCN11A	11280	broad.mit.edu	37	chr3	38962717	38962717	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaccagcttcttcacagagcGtagcaaggcccccacgatga	11	6	10	14	2	2	2	1	1	1	1	2	4	2	2	3	1	3	3	3	1	2	3			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr3:38962717G>A	ENST00000302328.3	-	6	940	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C	SCN11A_ENST00000444237.2_Missense_Mutation_p.R248C|SCN11A_ENST00000456224.3_Missense_Mutation_p.R248C|SCN11A_ENST00000450244.1_Missense_Mutation_p.R248C	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	248					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TTCACAGAGCGTAGCAAGGCC	0.537													8	221					0	0	1	0	0	A	38962717	G	A	38962717	3	1	95	1	0	0	0	0	1	0	0	0	13967	1145	40	1	4717	1	SCN11A	3	38962717	Missense_Mutation	SNP	G	TCGA-EJ-8474-01A-11D-2395-08		38962717	159059713	18	5135											
ZNF35	7584	broad.mit.edu	37	chr3	44700525	44700525	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggacaaaagccttttacgTgtagcgtgtgtgggaaagga	11	11	14	5	2	0	0	0	0	0	0	0	3	0	3	1	3	3	1	1	3	5	4			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr3:44700525T>C	ENST00000396056.2	+	4	905	c.670T>C	c.(670-672)Tgt>Cgt	p.C224R	RP11-944L7.4_ENST00000457331.1_RNA|ZNF35_ENST00000296092.3_3'UTR|ZNF35_ENST00000542250.1_Missense_Mutation_p.C64R	NM_003420.3	NP_003411.3	P13682	ZNF35_HUMAN	zinc finger protein 35	224					cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		GCCTTTTACGTGTAGCGTGTG	0.428													7	131					0	0	1	0	0	C	44700525	T	C	44700525	3	2	95	1	0	0	0	0	1	0	0	0	17919	1696	59	3	680	3	ZNF35	3	44700525	Missense_Mutation	SNP	T	TCGA-EJ-8474-01A-11D-2395-08	5737808	44700525	153321905	19	5136											
TLR9	54106	broad.mit.edu	37	chr3	52255490	52255490	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccagcaggaagctggcgcGcaagagaccactgacccggt	10	3	15	13	3	0	2	0	1	0	1	0	4	0	3	3	4	2	3	3	4	2	0			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr3:52255490G>A	ENST00000597542.1	-	9	3871	c.2914C>T	c.(2914-2916)Cgc>Tgc	p.R972C	TLR9_ENST00000360658.2_Missense_Mutation_p.R948C|TLR9_ENST00000494383.1_Missense_Mutation_p.A1101V			Q9NR96	TLR9_HUMAN	toll-like receptor 9	948	TIR.				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	AAGCTGGCGCGCAAGAGACCA	0.662													4	110					0	0	1	0	0	A	52255490	G	A	52255490	3	1	95	1	0	0	0	0	1	0	0	0	16018	1087	38	1	260	1	TLR9	3	52255490	Missense_Mutation	SNP	G	TCGA-EJ-8474-01A-11D-2395-08	7554965	52255490	145766940	20	5137											
EPHA3	2042	broad.mit.edu	37	chr3	89259294	89259294	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttacaaagattgacaccatTgcagctgatgaaagtttcac	14	12	7	8	0	1	4	1	3	0	1	1	4	1	4	1	0	3	3	1	0	3	5			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr3:89259294T>G	ENST00000336596.2	+	3	663	c.438T>G	c.(436-438)atT>atG	p.I146M	EPHA3_ENST00000452448.2_Missense_Mutation_p.I146M|EPHA3_ENST00000494014.1_Missense_Mutation_p.I146M	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	146						extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TTGACACCATTGCAGCTGATG	0.418										TSP Lung(6;0.00050)			10	207					0	0	1	0	0	G	89259294	T	G	89259294	3	3	95	1	0	0	0	0	1	0	0	0	5196	1800	63	5	448	5	EPHA3	3	89259294	Missense_Mutation	SNP	T	TCGA-EJ-8474-01A-11D-2395-08	37003804	89259294	108763136	21	5138											
MYLK	4638	broad.mit.edu	37	chr3	123456319	123456319	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcatcttggttgactccatgGatttccagaacctgcatgcc	8	13	8	12	0	2	2	1	1	1	1	4	3	4	3	4	2	3	2	4	2	1	3			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr3:123456319G>T	ENST00000360772.3	-	9	1038	c.660C>A	c.(658-660)atC>atA	p.I220I	MYLK_ENST00000360304.3_Silent_p.I220I|MYLK_ENST00000346322.5_Silent_p.I220I|MYLK_ENST00000475616.1_Silent_p.I220I|MYLK_ENST00000359169.1_Silent_p.I220I			Q15746	MYLK_HUMAN	myosin light chain kinase	220	Ig-like C2-type 2.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TGACTCCATGGATTTCCAGAA	0.547													9	218					1.04858e-14	1.17341e-14	1	1	0	T	123456319	G	T	123456319	2	4	95	1	0	0	0	0	0	0	0	1	10104	1164	41	4		4	MYLK	3	123456319	Silent	SNP	G	TCGA-EJ-8474-01A-11D-2395-08	34197025	123456319	74566111	22	5139											
MYL5	4636	broad.mit.edu	37	chr4	673714	673714	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtaacaggcaagaccaacGtcaaggacgacgagctggac	14	4	12	11	3	1	1	1	0	0	1	1	5	1	3	1	3	3	3	1	3	4	1			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr4:673714G>A	ENST00000506838.1	+	5	2600	c.76G>A	c.(76-78)Gtc>Atc	p.V26I	MYL5_ENST00000511290.1_Missense_Mutation_p.V26I|MYL5_ENST00000505477.1_Missense_Mutation_p.V26I|MYL5_ENST00000400159.2_Missense_Mutation_p.V67I			Q02045	MYL5_HUMAN	myosin, light chain 5, regulatory	67					regulation of muscle contraction	muscle myosin complex	calcium ion binding|structural constituent of muscle			endometrium(1)|kidney(1)|lung(1)	3						CAAGACCAACGTCAAGGACGA	0.607													37	58					0	0	1	0	0	A	673714	G	A	673714	3	1	95	1	0	0	0	0	1	0	0	0	10098	1145	40	1	213	1	MYL5	4	673714	Missense_Mutation	SNP	G	TCGA-EJ-8474-01A-11D-2395-08		673714	190480562	23	5140											
TMPRSS11F	389208	broad.mit.edu	37	chr4	68938119	68938119	+	Frame_Shift_Del	DEL	T	T	-																															ttgatataaagccttttcaaTttttttcttgatttgttcag																										TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr4:68938119delT	ENST00000356291.2	-	5	495	c.436delA	c.(436-438)ttfs	p.I146fs	RP11-453E17.1_ENST00000511571.1_RNA|RP11-453E17.1_ENST00000500538.2_RNA|RP11-453E17.1_ENST00000499180.2_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	146	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						GCCTTTTCAATTTTTTTCTTG	0.313													20	43	---	---	---	---						-	68938119	T	-	68938119	7	5	95	1	0	1	0	1	0	0	0	0	16303	1493	52	0	904	0	TMPRSS11F	4	68938119	Frame_Shift_Del	DEL	T	TCGA-EJ-8474-01A-11D-2395-08	68264405	68938119	122216157	24	5141											
BMP2K	55589	broad.mit.edu	37	chr4	79792152	79792152	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcaacagcagcagcagcagCagcagcagcagcaccaccac	15	0	10	16	0	0	0	0	0	0	0	0	0	0	0	2	0	11	10	2	0	1	0			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr4:79792152C>T	ENST00000335016.5	+	11	1613	c.1447C>T	c.(1447-1449)Cag>Tag	p.Q483*	BMP2K_ENST00000502871.1_Nonsense_Mutation_p.Q483*	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	483	Gln/His-rich.			Missing (in Ref. 2; CAB70863).		nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						gcagcagcagcagcagcagca	0.507													6	62					0	0	1	0	0	T	79792152	C	T	79792152	4	4	95	1	0	0	0	0	0	1	0	0	1459	711	25	2	1489	2	BMP2K	4	79792152	Nonsense_Mutation	SNP	C	TCGA-EJ-8474-01A-11D-2395-08	10854033	79792152	111362124	25	5142											
HNRNPD	3184	broad.mit.edu	37	chr4	83280638	83280638	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cactaccttatctacactctCcgattctttaaatagcacaa	13	13	2	13	1	3	0	0	0	3	0	4	1	3	0	2	0	3	1	2	0	7	7			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr4:83280638C>A	ENST00000313899.7	-	3	722	c.445G>T	c.(445-447)Gag>Tag	p.E149*	HNRNPD_ENST00000353341.4_Nonsense_Mutation_p.E149*|HNRNPD_ENST00000543098.1_Nonsense_Mutation_p.E97*|HNRNPD_ENST00000541060.1_Intron|HNRNPD_ENST00000352301.4_Nonsense_Mutation_p.E130*	NM_031370.2	NP_112738.1	Q14103	HNRPD_HUMAN	heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)	149	RRM 1.				nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|RNA catabolic process|transcription, DNA-dependent	cytosol|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|telomeric DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						TCTACACTCTCCGATTCTTTA	0.358													11	96					4.3838e-07	4.6827e-07	1	1	0	A	83280638	C	A	83280638	4	1	95	1	0	0	0	0	0	1	0	0	7305	864	30	4	646	4	HNRNPD	4	83280638	Nonsense_Mutation	SNP	C	TCGA-EJ-8474-01A-11D-2395-08	3488486	83280638	107873638	26	5143											
TNF	7124	broad.mit.edu	37	chr6	31544556	31544556	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcttcaggatcatcttctcGaaccccgagtgacaagcctg	9	10	8	14	2	5	1	2	1	3	0	6	4	5	2	3	1	2	0	3	1	2	2			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr6:31544556G>A	ENST00000449264.2	+	3	420	c.245G>A	c.(244-246)cGa>cAa	p.R82Q		NM_000594.3	NP_000585.2	P01375	TNFA_HUMAN	tumor necrosis factor	82					activation of caspase activity|activation of MAPK activity|activation of MAPKKK activity|anti-apoptosis|cellular response to nicotine|chronic inflammatory response to antigenic stimulus|embryonic digestive tract development|induction of apoptosis via death domain receptors|induction of necroptosis by extracellular signals|leukocyte tethering or rolling|necrotic cell death|negative regulation of branching involved in lung morphogenesis|negative regulation of cytokine secretion involved in immune response|negative regulation of fat cell differentiation|negative regulation of interleukin-6 production|negative regulation of lipid catabolic process|negative regulation of lipid storage|negative regulation of viral genome replication|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of chemokine biosynthetic process|positive regulation of chemokine production|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of fever generation|positive regulation of heterotypic cell-cell adhesion|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of membrane protein ectodomain proteolysis|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of NFAT protein import into nucleus|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of podosome assembly|positive regulation of protein complex disassembly|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|receptor biosynthetic process|regulation of insulin secretion|response to glucocorticoid stimulus|response to salt stress|response to virus|sequestering of triglyceride|transformed cell apoptosis|tumor necrosis factor-mediated signaling pathway	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane raft|phagocytic cup|recycling endosome	cytokine activity|identical protein binding|protease binding|transcription regulatory region DNA binding|tumor necrosis factor receptor binding			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(3)	8		Ovarian(999;0.00556)			Adalimumab(DB00051)|Adenosine(DB00640)|Amrinone(DB01427)|Atorvastatin(DB01076)|Chloroquine(DB00608)|Clenbuterol(DB01407)|Etanercept(DB00005)|Glucosamine(DB01296)|Infliximab(DB00065)|Naltrexone(DB00704)|Pranlukast(DB01411)|Procaterol(DB01366)|Saquinavir(DB01232)|Simvastatin(DB00641)|Thalidomide(DB01041)	TCATCTTCTCGAACCCCGAGT	0.502									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				16	201					0	0	1	0	0	A	31544556	G	A	31544556	3	1	95	1	0	0	0	0	1	0	0	0	16331	1058	37	1	255	1	TNF	6	31544556	Missense_Mutation	SNP	G	TCGA-EJ-8474-01A-11D-2395-08		31544556	139570511	27	5144											
OPN5	221391	broad.mit.edu	37	chr6	47776029	47776029	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctacttgcaaaatctgcagCgatgtacaatcccatcattt	12	12	5	12	1	2	0	1	0	1	0	3	1	3	0	2	0	5	3	2	0	5	4			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr6:47776029C>T	ENST00000489301.2	+	5	981	c.896C>T	c.(895-897)gCg>gTg	p.A299V	OPN5_ENST00000371211.2_Missense_Mutation_p.A299V|OPN5_ENST00000393699.2_Missense_Mutation_p.A299V|OPN5_ENST00000244799.4_3'UTR			Q6U736	OPN5_HUMAN	opsin 5	299					phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						AAATCTGCAGCGATGTACAAT	0.453													58	129					0	0	1	0	0	T	47776029	C	T	47776029	3	4	95	1	0	0	0	0	1	0	0	0	10931	768	27	1	914	1	OPN5	6	47776029	Missense_Mutation	SNP	C	TCGA-EJ-8474-01A-11D-2395-08	16231473	47776029	123339038	28	5145											
EYS	346007	broad.mit.edu	37	chr6	66115187	66115187	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcataagtataagcagaactGctatttgggcaaattcctct	13	13	7	8	0	2	1	1	0	1	1	3	1	3	1	1	1	3	4	1	1	6	6			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr6:66115187G>A	ENST00000503581.1	-	6	1473	c.936C>T	c.(934-936)agC>agT	p.S312S	EYS_ENST00000370621.3_Silent_p.S312S|EYS_ENST00000393380.2_Silent_p.S312S|EYS_ENST00000370616.2_Silent_p.S312S|EYS_ENST00000370618.3_Silent_p.S312S|EYS_ENST00000342421.5_Silent_p.S312S	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	312					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						AAGCAGAACTGCTATTTGGGC	0.378													10	131					0	0	1	0	0	A	66115187	G	A	66115187	2	1	95	1	0	0	0	0	0	0	0	1	5360	1310	46	2		2	EYS	6	66115187	Silent	SNP	G	TCGA-EJ-8474-01A-11D-2395-08	18339158	66115187	104999880	29	5146											
CLVS2	134829	broad.mit.edu	37	chr6	123369870	123369870	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcctgaaggagaaaactcGgaaaagggtattcttttctt	12	14	9	6	1	2	2	0	1	2	1	4	4	3	3	1	3	1	1	1	3	6	6			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr6:123369870G>A	ENST00000275162.4	+	4	2003	c.668G>A	c.(667-669)cGg>cAg	p.R223Q	CLVS2_ENST00000368438.1_Missense_Mutation_p.R77Q	NM_001010852.2	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	223	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						GAGAAAACTCGGAAAAGGGTA	0.378													4	81					0	0	1	0	0	A	123369870	G	A	123369870	3	1	95	1	0	0	0	0	1	0	0	0	3595	1116	39	1	678	1	CLVS2	6	123369870	Missense_Mutation	SNP	G	TCGA-EJ-8474-01A-11D-2395-08	57254683	123369870	47745197	30	5147											
THEMIS	387357	broad.mit.edu	37	chr6	128134734	128134734	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgatctctaggtcataggccGttgggaactccctcggtcgc	6	10	12	13	4	2	0	1	0	1	0	6	2	3	1	2	4	1	1	2	4	3	3			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr6:128134734G>A	ENST00000368250.1	-	5	1313	c.815C>T	c.(814-816)aCg>aTg	p.T272M	THEMIS_ENST00000537166.1_Missense_Mutation_p.T316M|THEMIS_ENST00000368248.2_Missense_Mutation_p.T351M|THEMIS_ENST00000543064.1_Missense_Mutation_p.T351M			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	351	CABIT 2.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						GTCATAGGCCGTTGGGAACTC	0.473													16	144					0	0	1	0	0	A	128134734	G	A	128134734	3	1	95	1	0	0	0	0	1	0	0	0	15920	1145	40	1	1006	1	THEMIS	6	128134734	Missense_Mutation	SNP	G	TCGA-EJ-8474-01A-11D-2395-08	4764864	128134734	42980333	31	5148											
NPC1L1	29881	broad.mit.edu	37	chr7	44579425	44579425	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaagggcagagccatacaCgccacacatggtgcccacag	13	3	11	14	1	0	1	0	0	0	1	0	1	0	1	3	2	3	2	3	2	2	1	rs146842539		TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr7:44579425C>T	ENST00000289547.4	-	2	626	c.571G>A	c.(571-573)Gtg>Atg	p.V191M	NPC1L1_ENST00000423141.1_Missense_Mutation_p.V191M|NPC1L1_ENST00000546276.1_Missense_Mutation_p.V191M|NPC1L1_ENST00000381160.3_Missense_Mutation_p.V191M	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	191					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GAGCCATACACGCCACACATG	0.612													5	98					0	0	1	0	0	T	44579425	C	T	44579425	3	4	95	1	0	0	0	0	1	0	0	0	10618	536	19	1	3584	1	NPC1L1	7	44579425	Missense_Mutation	SNP	C	TCGA-EJ-8474-01A-11D-2395-08		44579425	114559238	32	5149											
AKAP9	10142	broad.mit.edu	37	chr7	91667795	91667795	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtctagaatatctgggggAaaagaaaatactgcatcatc	15	10	9	7	0	3	2	1	0	2	2	4	3	3	3	0	2	2	1	0	2	8	3			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr7:91667795A>G	ENST00000359028.2	+	18	4662	c.4437A>G	c.(4435-4437)ggA>ggG	p.G1479G	AKAP9_ENST00000356239.3_Silent_p.G1467G|AKAP9_ENST00000358100.2_Silent_p.G1479G			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1479					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TATCTGGGGGAAAAGAAAATA	0.318			T	BRAF	papillary thyroid								4	63					0	0	1	0	0	G	91667795	A	G	91667795	2	3	95	1	0	0	0	0	0	0	0	1	456	233	9	3		3	AKAP9	7	91667795	Silent	SNP	A	TCGA-EJ-8474-01A-11D-2395-08	47088370	91667795	67470868	33	5150											
PPP1R3A	5506	broad.mit.edu	37	chr7	113518488	113518488	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgttttctttgataattCttgaacctgcctaagatctc	8	18	6	9	0	4	3	0	2	4	1	5	3	4	3	2	0	2	1	2	0	3	7			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr7:113518488C>A	ENST00000284601.3	-	4	2727	c.2659G>T	c.(2659-2661)Gaa>Taa	p.E887*		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	887					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTTGATAATTCTTGAACCTGC	0.363													5	96					0.184627	0.184627	1	1	0	A	113518488	C	A	113518488	4	1	95	1	0	0	0	0	0	1	0	0	12420	922	32	4	713	4	PPP1R3A	7	113518488	Nonsense_Mutation	SNP	C	TCGA-EJ-8474-01A-11D-2395-08	21850693	113518488	45620175	34	5151											
OR2A14	135941	broad.mit.edu	37	chr7	143826812	143826812	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcatctttgcagcctgcGtgttcatcctggtggggcca	4	13	13	11	1	3	0	2	0	1	0	4	0	4	0	3	4	3	2	3	4	0	2			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr7:143826812G>A	ENST00000408899.2	+	1	662	c.607G>A	c.(607-609)Gtg>Atg	p.V203M		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					TGCAGCCTGCGTGTTCATCCT	0.577													41	356					0	0	1	0	0	A	143826812	G	A	143826812	3	1	95	1	0	0	0	0	1	0	0	0	11024	1145	40	1	609	1	OR2A14	7	143826812	Missense_Mutation	SNP	G	TCGA-EJ-8474-01A-11D-2395-08	30308324	143826812	15311851	35	5152											
INTS10	55174	broad.mit.edu	37	chr8	19682476	19682476	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacagcatacagccatctctCttccaaggttggtttacaaa	13	11	6	11	0	2	0	0	0	2	0	4	0	3	0	2	2	5	3	2	2	5	5			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr8:19682476C>T	ENST00000397977.3	+	8	1397	c.999C>T	c.(997-999)ctC>ctT	p.L333L		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	333					snRNA processing	integrator complex	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		AGCCATCTCTCTTCCAAGGTT	0.398													3	52					0	0	1	0	0	T	19682476	C	T	19682476	2	4	95	1	0	0	0	0	0	0	0	1	7820	900	32	2		2	INTS10	8	19682476	Silent	SNP	C	TCGA-EJ-8474-01A-11D-2395-08		19682476	126681546	36	5153											
WWP1	11059	broad.mit.edu	37	chr8	87423858	87423858	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaaatgccttgtctccaaaTtgcactagtactactgttga	12	13	7	9	0	1	1	0	1	1	0	2	2	1	1	2	0	4	3	2	0	6	6			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr8:87423858T>G	ENST00000517970.1	+	9	1123	c.816T>G	c.(814-816)aaT>aaG	p.N272K	WWP1_ENST00000349423.2_Missense_Mutation_p.N54K|WWP1_ENST00000341922.2_Missense_Mutation_p.N142K|WWP1_ENST00000265428.4_Missense_Mutation_p.N272K	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	272					central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						TGTCTCCAAATTGCACTAGTA	0.413													30	55					0	0	1	0	0	G	87423858	T	G	87423858	3	3	95	1	0	0	0	0	1	0	0	0	17475	1490	52	5	842	5	WWP1	8	87423858	Missense_Mutation	SNP	T	TCGA-EJ-8474-01A-11D-2395-08	67741382	87423858	58940164	37	5154											
MMP16	4325	broad.mit.edu	37	chr8	89180005	89180005	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtgccaaaaatcctccctctCcatcaaagggagagctgtcc	11	8	8	14	0	2	1	1	0	1	1	6	2	5	1	5	1	2	1	5	1	3	0			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr8:89180005C>T	ENST00000286614.6	-	4	883	c.602G>A	c.(601-603)gGa>gAa	p.G201E	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	201					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						TCCTCCCTCTCCATCAAAGGG	0.443													36	75					0	0	1	0	0	T	89180005	C	T	89180005	3	4	95	1	0	0	0	0	1	0	0	0	9703	855	30	2	1405	2	MMP16	8	89180005	Missense_Mutation	SNP	C	TCGA-EJ-8474-01A-11D-2395-08	1756147	89180005	57184017	38	5155											
TG	7038	broad.mit.edu	37	chr8	133925308	133925308	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagagagagccttggtgggCaaggatctccttgggcgctt	8	9	15	9	1	1	2	0	0	1	2	2	4	1	3	2	4	1	2	2	4	1	3			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr8:133925308C>T	ENST00000220616.4	+	20	4216	c.4176C>T	c.(4174-4176)ggC>ggT	p.G1392G	TG_ENST00000377869.1_Silent_p.G1392G	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1392					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CCTTGGTGGGCAAGGATCTCC	0.557													27	43					0	0	1	0	0	T	133925308	C	T	133925308	2	4	95	1	0	0	0	0	0	0	0	1	15873	697	25	2		2	TG	8	133925308	Silent	SNP	C	TCGA-EJ-8474-01A-11D-2395-08	44745303	133925308	12438714	39	5156											
ARHGAP39	80728	broad.mit.edu	37	chr8	145773444	145773444	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcgaccgctggggagagccGgcctggtagcccccgccagc	5	3	17	16	4	0	1	0	0	0	1	0	3	0	1	6	5	3	2	6	5	1	1			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr8:145773444G>A	ENST00000276826.5	-	4	1227	c.1026C>T	c.(1024-1026)gcC>gcT	p.A342A	ARHGAP39_ENST00000377307.2_Silent_p.A342A|ARHGAP39_ENST00000540274.1_Silent_p.A342A			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	342	Pro-rich.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GGGGAGAGCCGGCCTGGTAGC	0.706													7	63					0	0	1	0	0	A	145773444	G	A	145773444	2	1	95	1	0	0	0	0	0	0	0	1	881	1103	39	1		1	ARHGAP39	8	145773444	Silent	SNP	G	TCGA-EJ-8474-01A-11D-2395-08	11848136	145773444	590578	40	5157											
ANXA11	311	broad.mit.edu	37	chr10	81917453	81917453	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttatactctgatctgatgtCcaggaggtcggtctcgctgc	6	13	11	11	2	3	2	0	2	3	0	6	3	4	3	1	3	2	1	1	3	2	2			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr10:81917453C>A	ENST00000438331.1	-	16	1884	c.1402G>T	c.(1402-1404)Gac>Tac	p.D468Y	ANXA11_ENST00000372231.3_Missense_Mutation_p.D468Y|ANXA11_ENST00000422982.3_Missense_Mutation_p.D468Y|ANXA11_ENST00000360615.4_Missense_Mutation_p.D468Y|ANXA11_ENST00000265447.4_Missense_Mutation_p.D468Y|ANXA11_ENST00000537102.1_Missense_Mutation_p.D435Y|ANXA11_ENST00000535999.1_Missense_Mutation_p.D468Y	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	468					cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			GATCTGATGTCCAGGAGGTCG	0.577													7	93					0.0293803	0.030019	1	1	0	A	81917453	C	A	81917453	3	1	95	1	0	0	0	0	1	0	0	0	710	855	30	4	123	4	ANXA11	10	81917453	Missense_Mutation	SNP	C	TCGA-EJ-8474-01A-11D-2395-08		81917453	53617294	41	5158											
TRIM5	85363	broad.mit.edu	37	chr11	5686409	5686409	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcacatacccccaggatcCaagcagttttcttggacacg	11	8	8	14	1	1	0	0	0	1	0	2	2	2	2	3	2	3	3	3	2	2	4			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr11:5686409C>T	ENST00000305836.5	-	8	1414	c.1112G>A	c.(1111-1113)tGg>tAg	p.W371*	TRIM5_ENST00000396853.4_Intron|TRIM5_ENST00000396855.3_Intron|TRIM5_ENST00000380034.3_Nonsense_Mutation_p.W371*|TRIM5_ENST00000380027.1_Intron|TRIM5_ENST00000483835.1_5'UTR|TRIM5_ENST00000396847.3_3'UTR			Q9C035	TRIM5_HUMAN	tripartite motif containing 5	371	B30.2/SPRY.				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		CCCCAGGATCCAAGCAGTTTT	0.403													7	210					0	0	1	0	0	T	5686409	C	T	5686409	4	4	95	1	0	0	0	0	0	1	0	0	16586	595	21	2	463	2	TRIM5	11	5686409	Nonsense_Mutation	SNP	C	TCGA-EJ-8474-01A-11D-2395-08		5686409	129320107	42	5159											
OR56A1	120796	broad.mit.edu	37	chr11	6048227	6048227	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcactgccgccccctctgcTttgaatctaagcacagctct	7	12	6	16	1	4	1	1	1	3	0	4	1	4	1	3	0	4	3	3	0	2	3			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr11:6048227T>C	ENST00000316650.5	-	1	744	c.708A>G	c.(706-708)aaA>aaG	p.K236K		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCCCTCTGCTTTGAATCTAA	0.488													37	51					0	0	1	0	0	C	6048227	T	C	6048227	2	2	95	1	0	0	0	0	0	0	0	1	11181	1606	56	3		3	OR56A1	11	6048227	Silent	SNP	T	TCGA-EJ-8474-01A-11D-2395-08	361818	6048227	128958289	43	5160											
MUC15	143662	broad.mit.edu	37	chr11	26586841	26586841	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtttgtggtaagccatcCacttggttccactatcaagg	9	13	9	10	0	1	0	1	0	0	0	3	0	3	0	3	3	1	3	3	3	3	5			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr11:26586841C>T	ENST00000436318.2	-	2	779	c.646G>A	c.(646-648)Gga>Aga	p.G216R	MUC15_ENST00000529533.1_Missense_Mutation_p.G216R|MUC15_ENST00000281268.8_Missense_Mutation_p.G216R|ANO3_ENST00000256737.3_Intron|MUC15_ENST00000455601.2_Missense_Mutation_p.G189R|MUC15_ENST00000527569.1_Missense_Mutation_p.G216R|ANO3_ENST00000537978.1_Intron|ANO3_ENST00000531568.1_Intron|ANO3_ENST00000525139.1_Intron			Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	189						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						GTAAGCCATCCACTTGGTTCC	0.413													7	107					0	0	1	0	0	T	26586841	C	T	26586841	3	4	95	1	0	0	0	0	1	0	0	0	10020	603	21	2	451	2	MUC15	11	26586841	Missense_Mutation	SNP	C	TCGA-EJ-8474-01A-11D-2395-08	20538614	26586841	108419675	44	5161											
SLC5A12	159963	broad.mit.edu	37	chr11	26702725	26702725	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggccccaatggccaccCaaaatgacaaggtgattcca	14	6	9	12	0	0	3	0	3	0	0	1	3	1	3	5	3	0	0	5	3	5	1			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr11:26702725C>A	ENST00000396005.3	-	12	1661	c.1352G>T	c.(1351-1353)tGg>tTg	p.W451L		NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	451					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						AATGGCCACCCAAAATGACAA	0.448													3	35					0.004672	0.00482602	1	1	0	A	26702725	C	A	26702725	3	1	95	1	0	0	0	0	1	0	0	0	14719	595	21	4	520	4	SLC5A12	11	26702725	Missense_Mutation	SNP	C	TCGA-EJ-8474-01A-11D-2395-08	115884	26702725	108303791	45	5162											
CAPRIN2	65981	broad.mit.edu	37	chr12	30867973	30867973	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctctaacagatccccggctaTtgacaaatggctgagtaggt	11	10	10	10	1	1	3	0	2	1	1	2	3	2	3	2	3	1	3	2	3	4	4			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr12:30867973T>A	ENST00000251071.5	-	15	3320	c.2570A>T	c.(2569-2571)aAt>aTt	p.N857I	CAPRIN2_ENST00000298892.5_Missense_Mutation_p.N807I|CAPRIN2_ENST00000395805.2_Missense_Mutation_p.N801I|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.N856I|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.N523I	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	857					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TCCCCGGCTATTGACAAATGG	0.438													4	135					0	0	1	0	0	A	30867973	T	A	30867973	3	1	95	1	0	0	0	0	1	0	0	0	2654	1493	52	5	829	5	CAPRIN2	12	30867973	Missense_Mutation	SNP	T	TCGA-EJ-8474-01A-11D-2395-08		30867973	102983922	46	5163											
ABCC4	10257	broad.mit.edu	37	chr13	95862991	95862991	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gacagcagattgactatctgGcctgtggttgtcttccccat	7	13	10	11	0	2	2	0	1	2	1	3	3	3	2	3	2	1	2	3	2	1	4			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr13:95862991G>C	ENST00000376887.4	-	5	690	c.576C>G	c.(574-576)ggC>ggG	p.G192G	ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000536256.1_Silent_p.G117G|ABCC4_ENST00000431522.1_Silent_p.G192G|ABCC4_ENST00000412704.1_Silent_p.G192G	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	192	ABC transmembrane type-1 1.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	TGACTATCTGGCCTGTGGTTG	0.438													6	42					0	0	1	0	0	C	95862991	G	C	95862991	2	2	95	1	0	0	0	0	0	0	0	1	55	1190	42	4		4	ABCC4	13	95862991	Silent	SNP	G	TCGA-EJ-8474-01A-11D-2395-08		95862991	19306887	47	5164											
DLST	1743	broad.mit.edu	37	chr14	75367846	75367846	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatggaggcgtttttggctcGctctttggaacacccattat	8	14	10	9	2	1	0	0	0	1	0	2	2	1	2	1	4	1	3	1	4	3	4			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr14:75367846G>A	ENST00000334220.4	+	14	1198	c.1137G>A	c.(1135-1137)tcG>tcA	p.S379S	DLST_ENST00000334212.6_Silent_p.S293S	NM_001933.4	NP_001924.2	P36957	ODO2_HUMAN	dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)	379					lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	dihydrolipoyllysine-residue succinyltransferase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00698)		TTTTTGGCTCGCTCTTTGGAA	0.488													9	118					0	0	1	0	0	A	75367846	G	A	75367846	2	1	95	1	0	0	0	0	0	0	0	1	4597	1074	38	1		1	DLST	14	75367846	Silent	SNP	G	TCGA-EJ-8474-01A-11D-2395-08		75367846	31981694	48	5165											
AHNAK2	113146	broad.mit.edu	37	chr14	105407424	105407424	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tattttgtaagtgtaacatcCtcacagggagagagaataga	15	11	10	5	0	1	3	1	0	0	3	2	5	2	3	1	1	1	2	1	1	5	6			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr14:105407424C>G	ENST00000333244.5	-	7	14483	c.14364G>C	c.(14362-14364)gaG>gaC	p.E4788D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4788						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GTGTAACATCCTCACAGGGAG	0.498													36	80					0	0	1	0	0	G	105407424	C	G	105407424	3	3	95	1	0	0	0	0	1	0	0	0	412	680	24	4	3027	4	AHNAK2	14	105407424	Missense_Mutation	SNP	C	TCGA-EJ-8474-01A-11D-2395-08	30039578	105407424	1942116	49	5166											
TPSB2	64499	broad.mit.edu	37	chr16	1278552	1278552	+	RNA	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cactcaggacggggcagggaAggtgtggggggcagtcgcca	8	4	20	9	2	1	0	1	0	0	0	2	2	1	2	1	8	0	2	1	8	1	0			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr16:1278552A>T	ENST00000430512.2	-	0	974				TPSB2_ENST00000339687.6_RNA	NM_024164.5	NP_077078.5	P20231	TRYB2_HUMAN	tryptase beta 2 (gene/pseudogene)						proteolysis	extracellular region	protein binding|serine-type endopeptidase activity			lung(1)|upper_aerodigestive_tract(1)	2		Hepatocellular(780;0.00369)				GGGGCAGGGAAGGTGTGGGGG	0.647													8	10					0	0	1	0	0	T	1278552	A	T	1278552	1	4	95	0	1	0	0	0	0	0	0	0	16485	87	3	5		5	TPSB2	16	1278552	RNA	SNP	A	TCGA-EJ-8474-01A-11D-2395-08		1278552	89076201	50	5167											
SEC14L5	9717	broad.mit.edu	37	chr16	5038194	5038194	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcgtgcagacaaacatcttGaactggaaggagaggacgct	13	8	12	8	2	1	3	0	1	1	2	2	6	1	5	0	3	3	2	0	3	3	2			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr16:5038194G>A	ENST00000251170.7	+	4	438	c.258G>A	c.(256-258)ttG>ttA	p.L86L		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	86	PRELI/MSF1.					integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						CAAACATCTTGAACTGGAAGG	0.622													18	35					0	0	1	0	0	A	5038194	G	A	5038194	2	1	95	1	0	0	0	0	0	0	0	1	14039	1281	45	2		2	SEC14L5	16	5038194	Silent	SNP	G	TCGA-EJ-8474-01A-11D-2395-08	3759642	5038194	85316559	51	5168											
FHOD1	29109	broad.mit.edu	37	chr16	67264087	67264087	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcactgctactgggacagaGgggttgctgggggcttcccc	5	9	15	12	0	1	1	1	0	0	1	2	2	2	2	2	5	3	4	2	5	1	3			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr16:67264087G>A	ENST00000258201.4	-	20	3343	c.3096C>T	c.(3094-3096)ccC>ccT	p.P1032P	FHOD1_ENST00000567687.1_Silent_p.P611P	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	1032					actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		CTGGGACAGAGGGGTTGCTGG	0.597													53	103					0	0	1	0	0	A	67264087	G	A	67264087	2	1	95	1	0	0	0	0	0	0	0	1	5915	987	35	2		2	FHOD1	16	67264087	Silent	SNP	G	TCGA-EJ-8474-01A-11D-2395-08	62225893	67264087	23090666	52	5169											
MYH13	8735	broad.mit.edu	37	chr17	10216500	10216500	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcctccagctcctctgtgcGctgaatggcgtccgtctcgt	3	12	10	16	4	2	1	0	1	2	0	7	1	6	1	4	1	2	2	4	1	1	0			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr17:10216500G>A	ENST00000418404.3	-	29	4319	c.4156C>T	c.(4156-4158)Cgc>Tgc	p.R1386C	MYH13_ENST00000570743.1_Missense_Mutation_p.R1386C|MYH13_ENST00000252172.4_Missense_Mutation_p.R1386C			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1386					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCCTCTGTGCGCTGAATGGCG	0.617													9	274					0	0	1	0	0	A	10216500	G	A	10216500	3	1	95	1	0	0	0	0	1	0	0	0	10080	1087	38	1	1708	1	MYH13	17	10216500	Missense_Mutation	SNP	G	TCGA-EJ-8474-01A-11D-2395-08		10216500	70978710	53	5170											
MYH2	4620	broad.mit.edu	37	chr17	10432357	10432357	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctttggcccgggaggcccGctctgcctcgatttcctcct	2	12	11	16	3	1	0	0	0	1	0	4	2	3	1	5	3	2	2	5	3	0	2			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr17:10432357G>A	ENST00000245503.5	-	27	3778	c.3394C>T	c.(3394-3396)Cgg>Tgg	p.R1132W	CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R1132W|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1132					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CGGGAGGCCCGCTCTGCCTCG	0.602													52	107					0	0	1	0	0	A	10432357	G	A	10432357	3	1	95	1	0	0	0	0	1	0	0	0	10083	1086	38	1	2487	1	MYH2	17	10432357	Missense_Mutation	SNP	G	TCGA-EJ-8474-01A-11D-2395-08	215857	10432357	70762853	54	5171											
LPO	0	broad.mit.edu	37	chr17	56343598	56343598	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatgatgactggagagctgcGcaacaagcttttccagccaa	13	8	10	10	1	0	3	0	2	0	1	1	4	1	3	2	1	5	3	2	1	4	2	rs144914036	byFrequency	TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr17:56343598G>A	ENST00000262290.4	+	11	1920	c.1604G>A	c.(1603-1605)cGc>cAc	p.R535H	LPO_ENST00000543544.1_Missense_Mutation_p.R476H|LPO_ENST00000582328.1_Missense_Mutation_p.R452H|LPO_ENST00000421678.2_Missense_Mutation_p.R452H	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	535					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.R535H(1)		breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						GGAGAGCTGCGCAACAAGCTT	0.547													6	70					0	0	1	0	0	A	56343598	G	A	56343598	3	1	95	1	0	0	0	0	1	0	0	0	8967	1087	38	1	1642	1	LPO	17	56343598	Missense_Mutation	SNP	G	TCGA-EJ-8474-01A-11D-2395-08	45911241	56343598	24851612	55	5172											
LIPG	9388	broad.mit.edu	37	chr18	47108803	47108803	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaattgagcccaccttttacGtcaccctttatggcactaat	11	13	5	12	1	1	1	1	1	0	0	1	1	1	1	3	1	2	1	3	1	4	6			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr18:47108803G>A	ENST00000261292.4	+	7	1386	c.1108G>A	c.(1108-1110)Gtc>Atc	p.V370I	LIPG_ENST00000427224.2_Missense_Mutation_p.V296I	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	370	PLAT.				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						CACCTTTTACGTCACCCTTTA	0.448													9	91					0	0	1	0	0	A	47108803	G	A	47108803	3	1	95	1	0	0	0	0	1	0	0	0	8864	1145	40	1	1134	1	LIPG	18	47108803	Missense_Mutation	SNP	G	TCGA-EJ-8474-01A-11D-2395-08		47108803	30968445	56	5173											
PLIN5	440503	broad.mit.edu	37	chr19	4529255	4529255	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggccaccacgtccttggctGaggtcaccacctggaaggaa	9	7	12	13	1	1	1	1	1	0	0	2	3	2	3	5	5	0	1	5	5	2	1			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr19:4529255G>A	ENST00000381848.3	-	5	430	c.350C>T	c.(349-351)tCa>tTa	p.S117L	CTB-50L17.14_ENST00000586020.1_3'UTR	NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	117						lipid particle				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						GTCCTTGGCTGAGGTCACCAC	0.667													9	137					0	0	1	0	0	A	4529255	G	A	4529255	3	1	95	1	0	0	0	0	1	0	0	0	12141	1294	45	2	1057	2	PLIN5	19	4529255	Missense_Mutation	SNP	G	TCGA-EJ-8474-01A-11D-2395-08		4529255	54599728	57	5174											
CACNA1A	773	broad.mit.edu	37	chr19	13423557	13423557	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtacatttttataaacatttCggacataaagagtcctaaga	16	13	6	6	1	0	2	0	0	0	2	2	3	1	3	1	1	2	1	1	1	7	8			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr19:13423557C>T	ENST00000360228.5	-	12	1593	c.1594G>A	c.(1594-1596)Gaa>Aaa	p.E532K	CACNA1A_ENST00000573710.2_Missense_Mutation_p.E533K	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	533					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	p.E533K(2)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	ATAAACATTTCGGACATAAAG	0.458													4	64					0	0	1	0	0	T	13423557	C	T	13423557	3	4	95	1	0	0	0	0	1	0	0	0	2556	893	31	1	6181	1	CACNA1A	19	13423557	Missense_Mutation	SNP	C	TCGA-EJ-8474-01A-11D-2395-08	8894302	13423557	45705426	58	5175											
ANKRD27	84079	broad.mit.edu	37	chr19	33122333	33122333	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acaggcagtcggtgggagacGaagtcatctgagagagtaag	13	6	16	6	2	2	3	1	1	1	2	3	6	2	3	0	3	0	2	0	3	2	1			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr19:33122333G>A	ENST00000306065.4	-	13	1342	c.1184C>T	c.(1183-1185)tCg>tTg	p.S395L		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	395					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity	p.S395L(1)		breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					GGTGGGAGACGAAGTCATCTG	0.478													23	104					0	0	1	0	0	A	33122333	G	A	33122333	3	1	95	1	0	0	0	0	1	0	0	0	651	1059	37	1	2036	1	ANKRD27	19	33122333	Missense_Mutation	SNP	G	TCGA-EJ-8474-01A-11D-2395-08	19698776	33122333	26006650	59	5176											
GGN	199720	broad.mit.edu	37	chr19	38876987	38876987	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcttcctgtgcccctcgagaAacctctcccaaggggcgagc	7	7	11	16	2	1	1	0	0	1	1	4	3	2	1	5	2	3	1	5	2	2	1			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr19:38876987A>G	ENST00000334928.6	-	3	1047	c.915T>C	c.(913-915)gtT>gtC	p.V305V	AC005789.9_ENST00000585411.1_RNA|GGN_ENST00000591809.1_Intron	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	305	Interaction with GGNBP1 (By similarity).|Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCCCTCGAGAAACCTCTCCCA	0.697													4	39					0	0	1	0	0	G	38876987	A	G	38876987	2	3	95	1	0	0	0	0	0	0	0	1	6400	1	1	3		3	GGN	19	38876987	Silent	SNP	A	TCGA-EJ-8474-01A-11D-2395-08	5754654	38876987	20251996	60	5177											
NOVA2	4858	broad.mit.edu	37	chr19	46457064	46457064	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctctgtcggggttcatcgTggtttggggttgaaggatgt	4	14	18	5	2	2	1	1	1	1	0	4	2	2	2	0	7	0	4	0	7	1	3			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr19:46457064T>A	ENST00000263257.5	-	3	564	c.370A>T	c.(370-372)Acg>Tcg	p.T124S		NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	124						nucleus	RNA binding			endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		GGGTTCATCGTGGTTTGGGGT	0.527													61	144					0	0	1	0	0	A	46457064	T	A	46457064	3	1	95	1	0	0	0	0	1	0	0	0	10602	1696	59	5	1116	5	NOVA2	19	46457064	Missense_Mutation	SNP	T	TCGA-EJ-8474-01A-11D-2395-08	7580077	46457064	12671919	61	5178											
CHD6	0	broad.mit.edu	37	chr20	40192693	40192693	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgggttctgaacacaagcGttgtgggatttgggcaactt	8	13	13	7	1	2	1	0	1	2	0	2	2	2	2	0	3	3	3	0	3	3	4			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr20:40192693G>A	ENST00000373222.3	-	2	133	c.95C>T	c.(94-96)aCg>aTg	p.T32M	CHD6_ENST00000373233.3_Intron|CHD6_ENST00000309279.7_Intron			Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2343					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				gaacacaagcgttgtgggatt	0.408													10	29					0	0	1	0	0	A	40192693	G	A	40192693	3	1	95	1	0	0	0	0	1	0	0	0	3351	1160	40	1		1	CHD6	20	40192693	Missense_Mutation	SNP	G	TCGA-EJ-8474-01A-11D-2395-08		40192693	22832827	62	5179											
TRPM2	7226	broad.mit.edu	37	chr21	45846600	45846600	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagaggaaggacgcggccGccatggaccccatgggagag	11	2	17	11	3	0	2	0	0	0	2	0	7	0	5	4	5	0	0	4	5	1	0			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr21:45846600G>A	ENST00000397928.1	+	26	4298	c.3853G>A	c.(3853-3855)Gcc>Acc	p.A1285T	TRPM2_ENST00000300481.9_Missense_Mutation_p.A1265T|TRPM2_ENST00000300482.5_Missense_Mutation_p.A1285T|TRPM2_ENST00000397932.2_Missense_Mutation_p.A1335T|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1285						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GGACGCGGCCGCCATGGACCC	0.592													6	141					0	0	1	0	0	A	45846600	G	A	45846600	3	1	95	1	0	0	0	0	1	0	0	0	16647	1087	38	1	3955	1	TRPM2	21	45846600	Missense_Mutation	SNP	G	TCGA-EJ-8474-01A-11D-2395-08		45846600	2283295	63	5180											
PPARA	5465	broad.mit.edu	37	chr22	46611177	46611177	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acatcgaatgtagaatctgcGgggacaaggcctcaggctat	12	8	12	9	2	2	1	1	0	1	1	3	3	2	2	1	4	1	2	1	4	5	2			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr22:46611177G>A	ENST00000396000.2	+	4	581	c.316G>A	c.(316-318)Ggg>Agg	p.G106R	PPARA_ENST00000407236.1_Missense_Mutation_p.G106R|PPARA_ENST00000402126.1_Missense_Mutation_p.G106R|PPARA_ENST00000434345.2_Missense_Mutation_p.G106R|PPARA_ENST00000262735.5_Missense_Mutation_p.G106R			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	106					fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)	TAGAATCTGCGGGGACAAGGC	0.592													4	52					0	0	1	0	0	A	46611177	G	A	46611177	3	1	95	1	0	0	0	0	1	0	0	0	12342	1116	39	1	322	1	PPARA	22	46611177	Missense_Mutation	SNP	G	TCGA-EJ-8474-01A-11D-2395-08		46611177	4693389	64	5181											
CERK	64781	broad.mit.edu	37	chr22	47095220	47095220	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgagttacctgaaaagtcGtatctggcaagacccaacca	13	9	8	11	1	2	3	0	2	2	1	3	3	2	3	3	1	2	3	3	1	6	2			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chr22:47095220G>A	ENST00000216264.8	-	8	1045	c.933C>T	c.(931-933)taC>taT	p.Y311Y	CERK_ENST00000541677.1_Silent_p.Y113Y	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase	311					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process	integral to membrane of membrane fraction|membrane|nucleus	ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CTGAAAAGTCGTATCTGGCAA	0.552													17	127					0	0	1	0	0	A	47095220	G	A	47095220	2	1	95	1	0	0	0	0	0	0	0	1	3289	1140	40	1		1	CERK	22	47095220	Silent	SNP	G	TCGA-EJ-8474-01A-11D-2395-08	484043	47095220	4209346	65	5182											
CSF2RA	0	broad.mit.edu	37	chrX	1401455	1401455	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacccctcatttgaccaggTcagcggctgaccaccatcct	8	9	8	16	1	2	3	2	3	0	0	3	3	3	3	6	2	1	1	6	2	0	1			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chrX:1401455T>G	ENST00000432318.2	+	3	296		c.e3+2		CSF2RA_ENST00000361536.3_Intron|CSF2RA_ENST00000381509.3_Intron|CSF2RA_ENST00000501036.2_Intron|CSF2RA_ENST00000381524.3_Intron|CSF2RA_ENST00000381529.3_Intron|CSF2RA_ENST00000355805.2_Intron|CSF2RA_ENST00000355432.3_Intron	NM_001161529.1	NP_001155001.1	P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)							extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TTTGACCAGGTCAGCGGCTGA	0.557													18	34					0	0	1	0	0	G	1401455	T	G	1401455	5	3	95	1	0	0	0	0	0	0	1	0	3959	1681	58	5		5	CSF2RA	23	1401455	Splice_Site	SNP	T	TCGA-EJ-8474-01A-11D-2395-08		1401455	153869105	66	5183											
FAM47C	442444	broad.mit.edu	37	chrX	37026830	37026830	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacagccagcacggaaggCgttcgtagaggaagtggaag	13	4	16	8	3	0	1	0	0	0	1	1	4	0	4	1	4	3	4	1	4	4	2			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chrX:37026830C>T	ENST00000358047.3	+	1	399	c.347C>T	c.(346-348)gCg>gTg	p.A116V		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	116										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GCACGGAAGGCGTTCGTAGAG	0.547													22	77					0	0	1	0	0	T	37026830	C	T	37026830	3	4	95	1	0	0	0	0	1	0	0	0	5607	768	27	1	349	1	FAM47C	23	37026830	Missense_Mutation	SNP	C	TCGA-EJ-8474-01A-11D-2395-08	35625375	37026830	118243730	67	5184											
PCDH11Y	83259	broad.mit.edu	37	chrY	4925416	4925416	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atatcaattccagagaactcGgctataaactctaaatatac	17	11	4	9	1	2	1	1	0	1	1	4	2	3	1	1	1	3	1	1	1	10	7			TCGA-EJ-8474-01A-11D-2395-08	TCGA-EJ-8474-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed362be8-54d4-4532-9d4a-ad760592aef1	ce43974e-70a9-4f22-9686-f0462c597acb	g.chrY:4925416G>A	ENST00000333703.4	+	4	1032	c.519G>A	c.(517-519)tcG>tcA	p.S173S	PCDH11Y_ENST00000215473.6_Silent_p.S184S|PCDH11Y_ENST00000362095.5_Silent_p.S184S	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	184	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CAGAGAACTCGGCTATAAACT	0.363													5	45					0	0	1	0	0	A	4925416	G	A	4925416	2	1	95	1	0	0	0	0	0	0	0	1	11556	1103	39	1		1	PCDH11Y	24	4925416	Silent	SNP	G	TCGA-EJ-8474-01A-11D-2395-08		4925416	54448150	68	5185											
ATXN7	6314	broad.mit.edu	37	chr3	63981655	63981655	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttggttcactcttcctcCtcctcttcctcctcctcctc	1	17	3	20	0	3	0	1	0	2	0	11	0	10	0	7	1	0	2	7	1	0	4			TCGA-EJ-A46B-01A-31D-A257-08	TCGA-EJ-A46B-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71680fa7-bf45-4381-828f-0cc1f73a13c6	94207d64-f627-4ce4-b463-6ea128d2ad79	g.chr3:63981655C>T	ENST00000398590.3	+	12	2710	c.2157C>T	c.(2155-2157)tcC>tcT	p.S719S	ATXN7_ENST00000538065.1_Silent_p.S719S|ATXN7_ENST00000484332.1_Silent_p.S574S|ATXN7_ENST00000487717.1_Silent_p.S719S|ATXN7_ENST00000295900.6_Silent_p.S719S	NM_001177387.1	NP_001170858.1	O15265	ATX7_HUMAN	ataxin 7	719	Poly-Ser.|Ser-rich.				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		Actcttcctcctcctcttcct	0.498													4	70					0	0	1	0	0	T	63981655	C	T	63981655	2	4	96	1	0	0	0	0	0	0	0	1	1213	668	24	2		2	ATXN7	3	63981655	Silent	SNP	C	TCGA-EJ-A46B-01A-31D-A257-08		63981655	134040775	1	5186											
LMOD2	442721	broad.mit.edu	37	chr7	123301995	123301997	+	In_Frame_Del	DEL	GAG	GAG	-																															tttctgaggaagtgtatacaGaggaggaggaggaggagtcc																										TCGA-EJ-A46B-01A-31D-A257-08	TCGA-EJ-A46B-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71680fa7-bf45-4381-828f-0cc1f73a13c6	94207d64-f627-4ce4-b463-6ea128d2ad79	g.chr7:123301995_123301997delGAG	ENST00000458573.2	+	2	512_514	c.355_357delGAG	c.(355-357)del	p.E124del	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	124	Glu-rich.					cytoskeleton	actin binding|tropomyosin binding										AGTGTATACAgaggaggaggagg	0.409													2	4	---	---	---	---						-	123301997	GAG	-	123301995	7	5	96	1	0	1	0	1	0	0	0	0	8898	943	33	0	361	0	LMOD2	7	123301995	In_Frame_Del	DEL	GAG	TCGA-EJ-A46B-01A-31D-A257-08		123301995	35836668	2	5187											
MFGE8	4240	broad.mit.edu	37	chr15	89453043	89453043	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtctcacagtggttgcccGcgtagcccttaaggcacgtg	6	10	12	13	4	1	0	1	0	1	0	3	0	1	0	2	2	2	3	2	2	2	3	rs34449331	byFrequency	TCGA-EJ-A46B-01A-31D-A257-08	TCGA-EJ-A46B-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71680fa7-bf45-4381-828f-0cc1f73a13c6	94207d64-f627-4ce4-b463-6ea128d2ad79	g.chr15:89453043G>A	ENST00000539437.1	-	3	297	c.161C>T	c.(160-162)gCg>gTg	p.A54V	MFGE8_ENST00000566497.1_Missense_Mutation_p.A62V|MFGE8_ENST00000268150.8_Missense_Mutation_p.A62V|MFGE8_ENST00000268151.7_Missense_Mutation_p.A62V|MFGE8_ENST00000542878.1_Intron|MFGE8_ENST00000559997.1_Intron			Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein	62	EGF-like.				angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization					breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					GTGGTTGCCCGCGTAGCCCTT	0.557													5	130					0	0	1	0	0	A	89453043	G	A	89453043	3	1	96	1	0	0	0	0	1	0	0	0	9570	1087	38	1	1006	1	MFGE8	15	89453043	Missense_Mutation	SNP	G	TCGA-EJ-A46B-01A-31D-A257-08		89453043	13078349	3	5188											
TELO2	9894	broad.mit.edu	37	chr16	1550606	1550606	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcgtgaagtgccgcctggAcagtagcctgccccccgtgc	5	6	15	15	3	0	1	0	1	0	0	0	2	0	2	6	2	4	1	6	2	2	1			TCGA-EJ-A46B-01A-31D-A257-08	TCGA-EJ-A46B-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71680fa7-bf45-4381-828f-0cc1f73a13c6	94207d64-f627-4ce4-b463-6ea128d2ad79	g.chr16:1550606A>G	ENST00000262319.6	+	9	1466	c.1187A>G	c.(1186-1188)gAc>gGc	p.D396G		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	396						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				TGCCGCCTGGACAGTAGCCTG	0.701													3	26					0	0	1	0	0	G	1550606	A	G	1550606	3	3	96	1	0	0	0	0	1	0	0	0	15816	275	10	3	1217	3	TELO2	16	1550606	Missense_Mutation	SNP	A	TCGA-EJ-A46B-01A-31D-A257-08		1550606	88804147	4	5189											
ANXA4	307	broad.mit.edu	37	chr2	70045734	70045734	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttgttattgtctgcagtgtTtgatgaatacaaaaggatat	12	17	9	3	0	1	2	0	2	1	0	1	3	1	3	0	1	2	3	0	1	6	6			TCGA-EJ-A46D-01A-21D-A257-08	TCGA-EJ-A46D-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bfa7723-1fe3-42f2-8575-70305679ac12	35d8332c-f08f-40f6-9484-3b17a3081894	g.chr2:70045734T>G	ENST00000394295.4	+	10	880	c.632T>G	c.(631-633)tTt>tGt	p.F211C	ANXA4_ENST00000409920.1_Missense_Mutation_p.F189C|ANXA4_ENST00000536030.1_Missense_Mutation_p.F127C	NM_001153.3	NP_001144.1	P09525	ANXA4_HUMAN	annexin A4	209					anti-apoptosis|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11						TCTGCAGTGTTTGATGAATAC	0.333													6	76					0	0	1	0	0	G	70045734	T	G	70045734	3	3	97	1	0	0	0	0	1	0	0	0	714	1841	64	5	666	5	ANXA4	2	70045734	Missense_Mutation	SNP	T	TCGA-EJ-A46D-01A-21D-A257-08		70045734	173153639	1	5190											
UGT1A8	0	broad.mit.edu	37	chr2	234527191	234527191	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtggtatcaactgccatcagGgaaagccattgcctatggta	11	10	11	9	0	2	0	2	0	0	0	2	1	2	1	3	3	4	2	3	3	5	4			TCGA-EJ-A46D-01A-21D-A257-08	TCGA-EJ-A46D-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bfa7723-1fe3-42f2-8575-70305679ac12	35d8332c-f08f-40f6-9484-3b17a3081894	g.chr2:234527191G>T	ENST00000373450.4	+	1	901	c.838G>T	c.(838-840)Gga>Tga	p.G280*		NM_019076.4	NP_061949.3														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008)		CTGCCATCAGGGAAAGCCATT	0.403													13	270					7.93312e-07	9.31279e-07	1	1	0	T	234527191	G	T	234527191	4	4	97	1	0	0	0	0	0	1	0	0	17011	1233	43	4	840	4	UGT1A8	2	234527191	Nonsense_Mutation	SNP	G	TCGA-EJ-A46D-01A-21D-A257-08	164481457	234527191	8672182	2	5191											
SLC6A20	54716	broad.mit.edu	37	chr3	45812921	45812921	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atctgggtggctgcattgatCcaggccttggggttggccag	5	11	16	9	0	1	1	0	1	1	0	2	1	2	1	3	6	1	3	3	6	0	3			TCGA-EJ-A46D-01A-21D-A257-08	TCGA-EJ-A46D-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bfa7723-1fe3-42f2-8575-70305679ac12	35d8332c-f08f-40f6-9484-3b17a3081894	g.chr3:45812921C>A	ENST00000358525.4	-	6	838	c.723G>T	c.(721-723)tgG>tgT	p.W241C	SLC6A20_ENST00000353278.4_Missense_Mutation_p.W204C|SLC6A20_ENST00000456124.2_Missense_Mutation_p.W241C	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	241					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		CTGCATTGATCCAGGCCTTGG	0.587													4	45					0.014758	0.0166027	1	1	0	A	45812921	C	A	45812921	3	1	97	1	0	0	0	0	1	0	0	0	14739	856	30	4	1079	4	SLC6A20	3	45812921	Missense_Mutation	SNP	C	TCGA-EJ-A46D-01A-21D-A257-08		45812921	152209509	3	5192											
RBM6	10180	broad.mit.edu	37	chr3	50005401	50005401	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaggggccggggcacttaTgatttagattttagaggccg	8	12	14	7	2	1	3	1	1	0	2	1	3	1	3	2	5	0	1	2	5	3	6			TCGA-EJ-A46D-01A-21D-A257-08	TCGA-EJ-A46D-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bfa7723-1fe3-42f2-8575-70305679ac12	35d8332c-f08f-40f6-9484-3b17a3081894	g.chr3:50005401T>C	ENST00000443081.1	+	3	1066	c.147T>C	c.(145-147)taT>taC	p.Y49Y	RBM6_ENST00000266022.4_Silent_p.Y181Y|RBM6_ENST00000539992.1_Intron|RBM6_ENST00000422955.1_Intron|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000441115.1_Intron			P78332	RBM6_HUMAN	RNA binding motif protein 6	181					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		GGGGCACTTATGATTTAGATT	0.498													6	53					0	0	1	0	0	C	50005401	T	C	50005401	2	2	97	1	0	0	0	0	0	0	0	1	13196	1471	51	3		3	RBM6	3	50005401	Silent	SNP	T	TCGA-EJ-A46D-01A-21D-A257-08	4192480	50005401	148017029	4	5193											
WDFY3	23001	broad.mit.edu	37	chr4	85758212	85758212	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttaaccagggtggaaggcActgacattgttgtcatgcag	11	11	12	7	0	1	1	1	1	0	0	1	2	1	2	1	3	2	3	1	3	2	4			TCGA-EJ-A46D-01A-21D-A257-08	TCGA-EJ-A46D-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bfa7723-1fe3-42f2-8575-70305679ac12	35d8332c-f08f-40f6-9484-3b17a3081894	g.chr4:85758212A>G	ENST00000322366.6	-	7	853	c.446T>C	c.(445-447)gTg>gCg	p.V149A	WDFY3_ENST00000295888.4_Missense_Mutation_p.V149A			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	149						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GGTGGAAGGCACTGACATTGT	0.413													6	45					0	0	1	0	0	G	85758212	A	G	85758212	3	3	97	1	0	0	0	0	1	0	0	0	17330	159	6	3	10425	3	WDFY3	4	85758212	Missense_Mutation	SNP	A	TCGA-EJ-A46D-01A-21D-A257-08		85758212	105396064	5	5194											
PEX6	5190	broad.mit.edu	37	chr6	42946850	42946851	+	Frame_Shift_Ins	INS	-	-	G																															ccaacgggggtgtctcggtcINSggaaagggctccaggacccg																										TCGA-EJ-A46D-01A-21D-A257-08	TCGA-EJ-A46D-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bfa7723-1fe3-42f2-8575-70305679ac12	35d8332c-f08f-40f6-9484-3b17a3081894	g.chr6:42946850_42946851insG	ENST00000304611.8	-	1	107_108	c.38_39insC	c.(37-39)cacfs	p.H13fs	PEX6_ENST00000244546.4_Frame_Shift_Ins_p.H13fs	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	13					protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			GTGTCTCGGTCGGAAAGGGCTC	0.708													2	4	---	---	---	---						G	42946851	-	G	42946850	7	5	97	1	0	1	1	0	0	0	0	0	11798	871	31	0	2971	0	PEX6	6	42946850	Frame_Shift_Ins	INS	-	TCGA-EJ-A46D-01A-21D-A257-08		42946850	128168217	6	5195											
HTR1E	3354	broad.mit.edu	37	chr6	87726042	87726042	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtggccgactttctgacGtggctcggttatgtgaattc	7	13	13	8	3	1	2	0	2	1	0	3	4	1	2	1	3	0	2	1	3	3	3	rs141247281	byFrequency	TCGA-EJ-A46D-01A-21D-A257-08	TCGA-EJ-A46D-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bfa7723-1fe3-42f2-8575-70305679ac12	35d8332c-f08f-40f6-9484-3b17a3081894	g.chr6:87726042G>A	ENST00000305344.4	+	2	1693	c.990G>A	c.(988-990)acG>acA	p.T330T	HTR1E_ENST00000369584.1_Silent_p.T330T	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	330					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	ACTTTCTGACGTGGCTCGGTT	0.448													14	147					0	0	1	0	0	A	87726042	G	A	87726042	2	1	97	1	0	0	0	0	0	0	0	1	7483	1132	40	1		1	HTR1E	6	87726042	Silent	SNP	G	TCGA-EJ-A46D-01A-21D-A257-08	44779192	87726042	83389025	7	5196											
COQ3	51805	broad.mit.edu	37	chr6	99817564	99817564	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctttaaaacaaactcagcaGaggctgggtgttcctggacc	11	9	10	11	0	1	1	1	0	0	1	2	2	2	2	3	3	3	3	3	3	3	3			TCGA-EJ-A46D-01A-21D-A257-08	TCGA-EJ-A46D-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bfa7723-1fe3-42f2-8575-70305679ac12	35d8332c-f08f-40f6-9484-3b17a3081894	g.chr6:99817564G>A	ENST00000254759.3	-	7	1046	c.1022C>T	c.(1021-1023)tCt>tTt	p.S341F	COQ3_ENST00000369242.1_Missense_Mutation_p.S113F|COQ3_ENST00000369240.1_Missense_Mutation_p.S113F	NM_017421.3	NP_059117.3	Q9NZJ6	COQ3_HUMAN	coenzyme Q3 methyltransferase	341					glycerol metabolic process|ubiquinone biosynthetic process	mitochondrial matrix	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity|3-demethylubiquinone-9 3-O-methyltransferase activity|hexaprenyldihydroxybenzoate methyltransferase activity			cervix(1)|lung(5)|upper_aerodigestive_tract(2)	8		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0625)		AAACTCAGCAGAGGCTGGGTG	0.453													21	151					0	0	1	0	0	A	99817564	G	A	99817564	3	1	97	1	0	0	0	0	1	0	0	0	3769	942	33	2	91	2	COQ3	6	99817564	Missense_Mutation	SNP	G	TCGA-EJ-A46D-01A-21D-A257-08	12091522	99817564	71297503	8	5197											
PEX3	8504	broad.mit.edu	37	chr6	143780272	143780272	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agaaaatcagagaaatacagGaaagggaggctgcagaatac	20	4	12	5	0	1	3	1	0	0	3	1	6	1	5	0	3	3	2	0	3	7	2			TCGA-EJ-A46D-01A-21D-A257-08	TCGA-EJ-A46D-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bfa7723-1fe3-42f2-8575-70305679ac12	35d8332c-f08f-40f6-9484-3b17a3081894	g.chr6:143780272G>T	ENST00000367591.4	+	2	187	c.124G>T	c.(124-126)Gaa>Taa	p.E42*		NM_003630.2	NP_003621.1	P56589	PEX3_HUMAN	peroxisomal biogenesis factor 3	42	Targeting to peroxisomes.				protein import into peroxisome membrane|transmembrane transport	integral to peroxisomal membrane	protein binding			endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)		AGAAATACAGGAAAGGGAGGC	0.348													6	62					5.9392e-07	7.28902e-07	1	1	0	T	143780272	G	T	143780272	4	4	97	1	0	0	0	0	0	1	0	0	11795	1175	41	4	130	4	PEX3	6	143780272	Nonsense_Mutation	SNP	G	TCGA-EJ-A46D-01A-21D-A257-08	43962708	143780272	27334795	9	5198											
VLDLR	7436	broad.mit.edu	37	chr9	2643402	2643402	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtccctggagcagtgtggcCgtcagccagtcatacacacc	9	7	11	14	1	2	0	2	0	0	0	3	1	3	1	4	2	3	1	4	2	1	1			TCGA-EJ-A46D-01A-21D-A257-08	TCGA-EJ-A46D-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bfa7723-1fe3-42f2-8575-70305679ac12	35d8332c-f08f-40f6-9484-3b17a3081894	g.chr9:2643402C>T	ENST00000382100.2	+	5	1047	c.691C>T	c.(691-693)Cgt>Tgt	p.R231C	VLDLR_ENST00000382099.2_Missense_Mutation_p.R231C	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	231	LDL-receptor class A 5.				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		GCAGTGTGGCCGTCAGCCAGT	0.582													6	41					0	0	1	0	0	T	2643402	C	T	2643402	3	4	97	1	0	0	0	0	1	0	0	0	17234	652	23	1	709	1	VLDLR	9	2643402	Missense_Mutation	SNP	C	TCGA-EJ-A46D-01A-21D-A257-08		2643402	138570029	10	5199											
ABTB2	25841	broad.mit.edu	37	chr11	34186310	34186310	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccatgccgtgggcctccagCatgctgaggagggggtcggc	5	6	17	13	2	0	1	0	1	0	0	2	2	1	2	4	5	3	2	4	5	0	0			TCGA-EJ-A46D-01A-21D-A257-08	TCGA-EJ-A46D-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bfa7723-1fe3-42f2-8575-70305679ac12	35d8332c-f08f-40f6-9484-3b17a3081894	g.chr11:34186310C>A	ENST00000435224.2	-	9	2335	c.1911G>T	c.(1909-1911)atG>atT	p.M637I	ABTB2_ENST00000298992.2_Missense_Mutation_p.M451I	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	451							DNA binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				GGGCCTCCAGCATGCTGAGGA	0.627													3	34					0.115264	0.119697	1	1	0	A	34186310	C	A	34186310	3	1	97	1	0	0	0	0	1	0	0	0	103	710	25	4	1202	4	ABTB2	11	34186310	Missense_Mutation	SNP	C	TCGA-EJ-A46D-01A-21D-A257-08		34186310	100820206	11	5200											
FBN1	2200	broad.mit.edu	37	chr15	48766566	48766566	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgggttccattggaacattCgtccagatcttatagaaaaa	14	12	8	7	1	1	2	0	0	1	2	4	3	3	3	2	2	1	1	2	2	5	5			TCGA-EJ-A46D-01A-21D-A257-08	TCGA-EJ-A46D-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bfa7723-1fe3-42f2-8575-70305679ac12	35d8332c-f08f-40f6-9484-3b17a3081894	g.chr15:48766566C>T	ENST00000316623.5	-	34	4551	c.4096G>A	c.(4096-4098)Gaa>Aaa	p.E1366K		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	1366	EGF-like 23; calcium-binding.		E -> K (in MFS).		heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TTGGAACATTCGTCCAGATCT	0.358													3	28					0	0	1	0	0	T	48766566	C	T	48766566	3	4	97	1	0	0	0	0	1	0	0	0	5735	893	31	1	4651	1	FBN1	15	48766566	Missense_Mutation	SNP	C	TCGA-EJ-A46D-01A-21D-A257-08		48766566	53764826	12	5201											
PRX	57716	broad.mit.edu	37	chr19	40901385	40901385	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatggcaaatttggatacCttcagcttggtagctcgccc	9	11	11	10	1	1	1	1	0	0	1	2	3	1	2	2	3	3	4	2	3	3	5			TCGA-EJ-A46D-01A-21D-A257-08	TCGA-EJ-A46D-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bfa7723-1fe3-42f2-8575-70305679ac12	35d8332c-f08f-40f6-9484-3b17a3081894	g.chr19:40901385C>T	ENST00000324001.7	-	7	3144	c.2874G>A	c.(2872-2874)aaG>aaA	p.K958K	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	958					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ATTTGGATACCTTCAGCTTGG	0.607													13	130					0	0	1	0	0	T	40901385	C	T	40901385	2	4	97	1	0	0	0	0	0	0	0	1	12691	680	24	2		2	PRX	19	40901385	Silent	SNP	C	TCGA-EJ-A46D-01A-21D-A257-08		40901385	18227598	13	5202											
DDX27	55661	broad.mit.edu	37	chr20	47852689	47852689	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtttgtgactgtttctaggcGttttaaggatgaacagattg	9	16	12	4	1	1	3	0	2	1	1	1	4	1	4	0	2	1	3	0	2	3	6			TCGA-EJ-A46D-01A-21D-A257-08	TCGA-EJ-A46D-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bfa7723-1fe3-42f2-8575-70305679ac12	35d8332c-f08f-40f6-9484-3b17a3081894	g.chr20:47852689G>T	ENST00000371764.4	+	13	1532	c.1523G>T	c.(1522-1524)cGt>cTt	p.R508L	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	508	Helicase C-terminal.					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GTTTCTAGGCGTTTTAAGGAT	0.498													6	78					0.0293803	0.0317308	1	1	0	T	47852689	G	T	47852689	3	4	97	1	0	0	0	0	1	0	0	0	4377	1145	40	4	1573	4	DDX27	20	47852689	Missense_Mutation	SNP	G	TCGA-EJ-A46D-01A-21D-A257-08		47852689	15172831	14	5203											
KRTAP19-3	337970	broad.mit.edu	37	chr21	31864115	31864115	+	Frame_Shift_Del	DEL	C	C	-																															ctccgaagccagagccatatCcatagcctccaaagccagag																										TCGA-EJ-A46D-01A-21D-A257-08	TCGA-EJ-A46D-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bfa7723-1fe3-42f2-8575-70305679ac12	35d8332c-f08f-40f6-9484-3b17a3081894	g.chr21:31864115delC	ENST00000334063.4	-	1	160	c.161delG	c.(160-162)gafs	p.G54fs		NM_181609.3	NP_853640.1	Q7Z4W3	KR193_HUMAN	keratin associated protein 19-3	54						intermediate filament				large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	9						AGAGCCATATCCATAGCCTCC	0.537													8	343	---	---	---	---						-	31864115	C	-	31864115	7	5	97	1	0	1	0	1	0	0	0	0	8573	855	30	0	88	0	KRTAP19-3	21	31864115	Frame_Shift_Del	DEL	C	TCGA-EJ-A46D-01A-21D-A257-08		31864115	16265780	15	5204											
SERPIND1	3053	broad.mit.edu	37	chr22	21141285	21141285	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtcgaccgcccctttcttttCctcatctacgagcatcgcac	6	12	6	17	4	3	0	1	0	2	0	6	2	4	0	4	0	2	2	4	0	1	4			TCGA-EJ-A46D-01A-21D-A257-08	TCGA-EJ-A46D-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bfa7723-1fe3-42f2-8575-70305679ac12	35d8332c-f08f-40f6-9484-3b17a3081894	g.chr22:21141285C>G	ENST00000215727.5	+	5	1714	c.1431C>G	c.(1429-1431)ttC>ttG	p.F477L	PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000255882.6_Intron|SERPIND1_ENST00000406799.1_Missense_Mutation_p.F477L	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	477					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	CCTTTCTTTTCCTCATCTACG	0.592													11	78					0	0	1	0	0	G	21141285	C	G	21141285	3	3	97	1	0	0	0	0	1	0	0	0	14164	854	30	4	1445	4	SERPIND1	22	21141285	Missense_Mutation	SNP	C	TCGA-EJ-A46D-01A-21D-A257-08		21141285	30163281	16	5205											
FLNB	2317	broad.mit.edu	37	chr3	58062900	58062900	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgatgccaagaagcagacGccaaagcagaggctgctggg	13	4	15	9	1	0	4	0	1	0	3	0	5	0	4	2	2	4	4	2	2	3	0			TCGA-EJ-A46E-01A-31D-A257-08	TCGA-EJ-A46E-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3471f90f-e293-45d1-a6cf-4927be485fd9	757ae720-46cc-4388-a24f-5c8ab52e12f4	g.chr3:58062900G>A	ENST00000357272.4	+	2	585	c.420G>A	c.(418-420)acG>acA	p.T140T	FLNB_ENST00000429972.2_Silent_p.T140T|FLNB_ENST00000358537.3_Silent_p.T140T|FLNB_ENST00000490882.1_Silent_p.T140T|FLNB_ENST00000348383.5_Silent_p.T140T|FLNB_ENST00000295956.4_Silent_p.T140T			O75369	FLNB_HUMAN	filamin B, beta	140	Actin-binding.|CH 2.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		AGAAGCAGACGCCAAAGCAGA	0.557													4	76					0	0	1	0	0	A	58062900	G	A	58062900	2	1	98	1	0	0	0	0	0	0	0	1	5967	1074	38	1		1	FLNB	3	58062900	Silent	SNP	G	TCGA-EJ-A46E-01A-31D-A257-08		58062900	139959530	1	5206											
STEAP2	261729	broad.mit.edu	37	chr7	89856643	89856643	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agctgcttatcaactttattAcggcaccaagtataggagat	13	12	8	8	1	1	1	1	0	0	1	1	2	1	1	1	2	4	4	1	2	7	6	rs138124501	byFrequency	TCGA-EJ-A46E-01A-31D-A257-08	TCGA-EJ-A46E-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3471f90f-e293-45d1-a6cf-4927be485fd9	757ae720-46cc-4388-a24f-5c8ab52e12f4	g.chr7:89856643A>G	ENST00000287908.3	+	3	1244	c.851A>G	c.(850-852)tAc>tGc	p.Y284C	STEAP2_ENST00000394632.1_Missense_Mutation_p.Y284C|STEAP2_ENST00000394629.2_Missense_Mutation_p.Y284C|STEAP2_ENST00000394621.2_Missense_Mutation_p.Y284C|STEAP2_ENST00000394622.2_Missense_Mutation_p.Y284C|STEAP2_ENST00000394626.1_Missense_Mutation_p.Y284C|STEAP2_ENST00000402625.2_Missense_Mutation_p.Y284C	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	284	Ferric oxidoreductase.				electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					CAACTTTATTACGGCACCAAG	0.408													8	85					0	0	1	0	0	G	89856643	A	G	89856643	3	3	98	1	0	0	0	0	1	0	0	0	15334	391	14	3	857	3	STEAP2	7	89856643	Missense_Mutation	SNP	A	TCGA-EJ-A46E-01A-31D-A257-08		89856643	69282020	2	5207											
SAMD9L	219285	broad.mit.edu	37	chr7	92764069	92764069	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaattatccagtgagtctcGgtttcctatgagaagtttaa	11	15	9	6	1	1	3	0	3	1	1	4	4	3	3	2	1	0	2	2	1	5	5	rs150070697	byFrequency	TCGA-EJ-A46E-01A-31D-A257-08	TCGA-EJ-A46E-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3471f90f-e293-45d1-a6cf-4927be485fd9	757ae720-46cc-4388-a24f-5c8ab52e12f4	g.chr7:92764069G>A	ENST00000318238.4	-	5	2432	c.1216C>T	c.(1216-1218)Cga>Tga	p.R406*	SAMD9L_ENST00000411955.1_Nonsense_Mutation_p.R406*|SAMD9L_ENST00000437805.1_Nonsense_Mutation_p.R406*	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	406										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AGTGAGTCTCGGTTTCCTATG	0.353													13	174					0	0	1	0	0	A	92764069	G	A	92764069	4	1	98	1	0	0	0	0	0	1	0	0	13879	1124	39	1	3542	1	SAMD9L	7	92764069	Nonsense_Mutation	SNP	G	TCGA-EJ-A46E-01A-31D-A257-08	2907426	92764069	66374594	3	5208											
SYT13	57586	broad.mit.edu	37	chr11	45274253	45274253	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgtagcagtcacagcctcCgtcgtggttgctggtcacag	7	9	13	12	3	2	0	2	0	0	0	4	1	3	0	2	2	3	4	2	2	1	2			TCGA-EJ-A46E-01A-31D-A257-08	TCGA-EJ-A46E-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3471f90f-e293-45d1-a6cf-4927be485fd9	757ae720-46cc-4388-a24f-5c8ab52e12f4	g.chr11:45274253C>T	ENST00000020926.3	-	4	676	c.565G>A	c.(565-567)Gga>Aga	p.G189R		NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	189	C2 1.					transport vesicle				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						TCACAGCCTCCGTCGTGGTTG	0.602											OREG0020928	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	79					0	0	1	0	0	T	45274253	C	T	45274253	3	4	98	1	0	0	0	0	1	0	0	0	15526	661	23	1	727	1	SYT13	11	45274253	Missense_Mutation	SNP	C	TCGA-EJ-A46E-01A-31D-A257-08		45274253	89732263	4	5209											
OR4A5	81318	broad.mit.edu	37	chr11	51411634	51411634	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttgaaacaggtctaacataTatgaaaatacagggtacaaa	19	10	7	5	0	1	2	0	2	1	0	1	2	1	2	0	2	4	1	0	2	9	6	rs143887524	byFrequency	TCGA-EJ-A46E-01A-31D-A257-08	TCGA-EJ-A46E-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3471f90f-e293-45d1-a6cf-4927be485fd9	757ae720-46cc-4388-a24f-5c8ab52e12f4	g.chr11:51411634T>C	ENST00000319760.6	-	1	814	c.762A>G	c.(760-762)atA>atG	p.I254M		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	254					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				GTCTAACATATATGAAAATAC	0.388													4	80					0	0	1	0	0	C	51411634	T	C	51411634	3	2	98	1	0	0	0	0	1	0	0	0	11091	1396	49	3	189	3	OR4A5	11	51411634	Missense_Mutation	SNP	T	TCGA-EJ-A46E-01A-31D-A257-08	6137381	51411634	83594882	5	5210											
CASC5	57082	broad.mit.edu	37	chr15	40917081	40917081	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcaaactcatgtcaatgctgGagaagcaccagatcctgtaa	14	9	8	10	0	3	2	3	0	0	2	4	3	4	2	2	1	3	3	2	1	4	1			TCGA-EJ-A46E-01A-31D-A257-08	TCGA-EJ-A46E-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3471f90f-e293-45d1-a6cf-4927be485fd9	757ae720-46cc-4388-a24f-5c8ab52e12f4	g.chr15:40917081G>A	ENST00000346991.5	+	11	5087	c.4697G>A	c.(4696-4698)gGa>gAa	p.G1566E	CASC5_ENST00000399668.2_Missense_Mutation_p.G1540E			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1566					acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		GTCAATGCTGGAGAAGCACCA	0.343													4	38					0	0	1	0	0	A	40917081	G	A	40917081	3	1	98	1	0	0	0	0	1	0	0	0	2681	1174	41	2	4735	2	CASC5	15	40917081	Missense_Mutation	SNP	G	TCGA-EJ-A46E-01A-31D-A257-08		40917081	61614311	6	5211											
FGF16	8823	broad.mit.edu	37	chrX	76711785	76711785	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagaagaaactcacacgtgaAtgtgttttccgggaacagtt	13	10	10	8	2	1	3	1	1	0	2	2	4	2	4	1	1	2	2	1	1	4	3			TCGA-EJ-A46E-01A-31D-A257-08	TCGA-EJ-A46E-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3471f90f-e293-45d1-a6cf-4927be485fd9	757ae720-46cc-4388-a24f-5c8ab52e12f4	g.chrX:76711785A>T	ENST00000439435.1	+	2	122	c.122A>T	c.(121-123)aAt>aTt	p.N41I				O43320	FGF16_HUMAN	fibroblast growth factor 16	0					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|metabolic process|organ morphogenesis|response to temperature stimulus	extracellular space	growth factor activity			NS(1)|breast(1)|lung(2)	4						TCACACGTGAATGTGTTTTCC	0.423													4	70					0	0	1	0	0	T	76711785	A	T	76711785	3	4	98	1	0	0	0	0	1	0	0	0	5877	98	4	5	129	5	FGF16	23	76711785	Missense_Mutation	SNP	A	TCGA-EJ-A46E-01A-31D-A257-08		76711785	78558775	7	5212											
SRPX2	27286	broad.mit.edu	37	chrX	99917332	99917332	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcggtgcaatgcctgccaaGccgtcgttggtctggaactg	6	10	14	11	3	1	0	0	0	1	0	3	1	1	1	3	3	5	2	3	3	3	1			TCGA-EJ-A46E-01A-31D-A257-08	TCGA-EJ-A46E-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3471f90f-e293-45d1-a6cf-4927be485fd9	757ae720-46cc-4388-a24f-5c8ab52e12f4	g.chrX:99917332G>A	ENST00000373004.3	+	4	751	c.323G>A	c.(322-324)aGc>aAc	p.S108N		NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	108	Sushi 1.				angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						TGCCTGCCAAGCCGTCGTTGG	0.557													6	91					0	0	1	0	0	A	99917332	G	A	99917332	3	1	98	1	0	0	0	0	1	0	0	0	15221	971	34	2	333	2	SRPX2	23	99917332	Missense_Mutation	SNP	G	TCGA-EJ-A46E-01A-31D-A257-08	23205547	99917332	55353228	8	5213											
CLSPN	63967	broad.mit.edu	37	chr1	36226432	36226432	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgttgtctgctcagaacCtttactatggtgatcactgt	8	15	8	10	0	3	2	2	1	1	1	3	2	3	2	2	1	3	2	2	1	3	4	rs114727604	byFrequency	TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr1:36226432C>T	ENST00000251195.5	-	8	1186	c.1090G>A	c.(1090-1092)Ggt>Agt	p.G364S	CLSPN_ENST00000373220.3_Missense_Mutation_p.G364S|CLSPN_ENST00000520551.1_Missense_Mutation_p.G364S|CLSPN_ENST00000318121.3_Missense_Mutation_p.G364S			Q9HAW4	CLSPN_HUMAN	claspin	364					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TGCTCAGAACCTTTACTATGG	0.388													35	45					0	0	1	0	0	T	36226432	C	T	36226432	3	4	99	1	0	0	0	0	1	0	0	0	3583	681	24	2	3001	2	CLSPN	1	36226432	Missense_Mutation	SNP	C	TCGA-EJ-A46F-01A-31D-A257-08		36226432	213024189	1	5214											
FLG	2312	broad.mit.edu	37	chr1	152282410	152282410	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catgacgagtgcctgattgtCtggagctctctgcagagtgc	7	11	13	10	1	2	3	0	2	2	1	3	5	2	4	1	1	4	2	1	1	0	1			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr1:152282410C>T	ENST00000368799.1	-	3	4987	c.4952G>A	c.(4951-4953)aGa>aAa	p.R1651K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1651	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCTGATTGTCTGGAGCTCTC	0.552									Ichthyosis				160	209					0	0	1	0	0	T	152282410	C	T	152282410	3	4	99	1	0	0	0	0	1	0	0	0	5955	913	32	2	7237	2	FLG	1	152282410	Missense_Mutation	SNP	C	TCGA-EJ-A46F-01A-31D-A257-08	116055978	152282410	96968211	2	5215											
SHC1	6464	broad.mit.edu	37	chr1	154938797	154938797	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccatccaagcaacttaccaAtgtagctcccaagtggctgg	11	9	8	13	0	0	0	0	0	0	0	3	0	3	0	4	2	4	4	4	2	6	2	rs77859168	by1000genomes	TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr1:154938797A>G	ENST00000448116.2	-	8	1400	c.1180T>C	c.(1180-1182)Ttg>Ctg	p.L394L	SHC1_ENST00000368453.4_Silent_p.L284L|SHC1_ENST00000368445.5_Silent_p.L394L|SHC1_ENST00000368450.1_Silent_p.L284L|SHC1_ENST00000606391.1_Silent_p.L195L|SHC1_ENST00000368449.4_Silent_p.L165L	NM_001130040.1	NP_001123512.1	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	394	CH1.				activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CAACTTACCAATGTAGCTCCC	0.607													3	43					0	0	1	0	0	G	154938797	A	G	154938797	2	3	99	1	0	0	0	0	0	0	0	1	14325	98	4	3		3	SHC1	1	154938797	Silent	SNP	A	TCGA-EJ-A46F-01A-31D-A257-08	2656387	154938797	94311824	3	5216											
CFH	3075	broad.mit.edu	37	chr1	196709884	196709884	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggcctgcaattgcaaaatGcttaggagaaaaatggtctc	13	10	11	7	0	1	1	0	0	1	1	2	2	1	1	1	3	3	3	1	3	6	2			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr1:196709884G>T	ENST00000367429.4	+	18	3158	c.2918G>T	c.(2917-2919)tGc>tTc	p.C973F		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	973	Sushi 16.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ATTGCAAAATGCTTAGGAGAA	0.358													33	33					1.60099e-16	1.70014e-16	1	1	0	T	196709884	G	T	196709884	3	4	99	1	0	0	0	0	1	0	0	0	3305	1319	46	4	3006	4	CFH	1	196709884	Missense_Mutation	SNP	G	TCGA-EJ-A46F-01A-31D-A257-08	41771087	196709884	52540737	4	5217											
MYBPH	4608	broad.mit.edu	37	chr1	203138381	203138381	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagggcctggcccctcacCttgggtgaagctcggacact	8	7	12	14	1	1	1	1	1	0	0	2	2	1	2	4	4	2	1	4	4	2	1			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr1:203138381C>T	ENST00000255416.4	-	8	1287	c.1230_splice	c.e8+1	p.K410_splice		NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	myosin binding protein H	410	Ig-like C2-type 2.			RASPKP -> ELHQA (in Ref. 1; AAA36339).	cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle			endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		GGCCCCTCACCTTGGGTGAAG	0.647													11	18					0	0	1	0	0	T	203138381	C	T	203138381	5	4	99	1	0	0	0	0	0	0	1	0	10062	695	24	2	215	2	MYBPH	1	203138381	Splice_Site	SNP	C	TCGA-EJ-A46F-01A-31D-A257-08	6428497	203138381	46112240	5	5218											
DOCK10	55619	broad.mit.edu	37	chr2	225684223	225684223	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accatcttaaacacatacccTcggtccataaatgtaaagca	16	9	4	12	1	1	0	0	0	1	0	3	0	2	0	3	1	3	2	3	1	7	4			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr2:225684223T>G	ENST00000409592.3	-	29	3302	c.3189A>C	c.(3187-3189)cgA>cgC	p.R1063R	DOCK10_ENST00000258390.7_Silent_p.R1069R			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1069							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		ACACATACCCTCGGTCCATAA	0.318													6	83					0	0	1	0	0	G	225684223	T	G	225684223	2	3	99	1	0	0	0	0	0	0	0	1	4712	1538	54	5		5	DOCK10	2	225684223	Silent	SNP	T	TCGA-EJ-A46F-01A-31D-A257-08		225684223	17515150	6	5219											
SP100	6672	broad.mit.edu	37	chr2	231375862	231375862	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatactggaatctcacaacaAtaccttagttgacccttgtg	13	12	6	10	0	1	1	1	1	1	0	2	2	1	2	2	1	3	1	2	1	7	5			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr2:231375862A>G	ENST00000264052.5	+	24	2430	c.2075A>G	c.(2074-2076)aAt>aGt	p.N692S	SP100_ENST00000340126.4_Missense_Mutation_p.N692S	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	692					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TCTCACAACAATACCTTAGTT	0.383													17	41					0	0	1	0	0	G	231375862	A	G	231375862	3	3	99	1	0	0	0	0	1	0	0	0	15014	101	4	3	2169	3	SP100	2	231375862	Missense_Mutation	SNP	A	TCGA-EJ-A46F-01A-31D-A257-08	5691639	231375862	11823511	7	5220											
PTX3	5806	broad.mit.edu	37	chr3	157154782	157154782	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagtgttggccgagaactcGgatgattatgatctcatgta	10	12	12	7	2	1	3	1	2	1	1	3	5	1	4	1	2	1	3	1	2	3	3			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr3:157154782G>A	ENST00000295927.3	+	1	205	c.60G>A	c.(58-60)tcG>tcA	p.S20S	VEPH1_ENST00000392832.2_Intron|VEPH1_ENST00000392833.2_Intron|VEPH1_ENST00000362010.2_Intron|VEPH1_ENST00000543418.1_Intron	NM_002852.3	NP_002843.2	P26022	PTX3_HUMAN	pentraxin 3, long	20					inflammatory response	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)	10			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			CCGAGAACTCGGATGATTATG	0.468													64	60					0	0	1	0	0	A	157154782	G	A	157154782	2	1	99	1	0	0	0	0	0	0	0	1	12874	1103	39	1		1	PTX3	3	157154782	Silent	SNP	G	TCGA-EJ-A46F-01A-31D-A257-08		157154782	40867648	8	5221											
MCTP1	79772	broad.mit.edu	37	chr5	94353187	94353187	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttccagcagtgtttattattTtctggaaaacacgaaatata	14	15	6	6	1	1	0	0	0	1	0	2	2	2	1	1	1	2	2	1	1	7	8			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr5:94353187T>A	ENST00000515393.1	-	2	721	c.720_splice	c.e2-1	p.K241_splice	MCTP1_ENST00000505208.1_Splice_Site_p.K20_splice|MCTP1_ENST00000312216.8_Splice_Site_p.K20_splice|MCTP1_ENST00000429576.2_Splice_Site_p.K20_splice	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	241					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		GTTTATTATTTTCTGGAAAAC	0.343													27	22					0	0	1	0	0	A	94353187	T	A	94353187	5	1	99	1	0	0	0	0	0	0	1	0	9450	1855	64	5	2365	5	MCTP1	5	94353187	Splice_Site	SNP	T	TCGA-EJ-A46F-01A-31D-A257-08		94353187	86562073	9	5222											
FAM81B	153643	broad.mit.edu	37	chr5	94782294	94782294	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cactttcaagtaatctgtacGaagaagttgagaataataaa	18	11	7	5	1	2	2	1	1	1	2	2	4	2	2	0	0	1	3	0	0	9	6			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr5:94782294G>A	ENST00000283357.5	+	8	968	c.922G>A	c.(922-924)Gaa>Aaa	p.E308K		NM_152548.2	NP_689761.2	Q96LP2	FA81B_HUMAN	family with sequence similarity 81, member B	308										central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		TAATCTGTACGAAGAAGTTGA	0.279													9	20					0	0	1	0	0	A	94782294	G	A	94782294	3	1	99	1	0	0	0	0	1	0	0	0	5661	1059	37	1	952	1	FAM81B	5	94782294	Missense_Mutation	SNP	G	TCGA-EJ-A46F-01A-31D-A257-08	429107	94782294	86132966	10	5223											
RAPGEF6	51735	broad.mit.edu	37	chr5	130857100	130857102	+	In_Frame_Del	DEL	AAC	AAC	-																															tacctgatagatatcagataAactgctgcttccagagtcac																										TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr5:130857100_130857102delAAC	ENST00000509018.1	-	7	813_815	c.608_610delGTT	c.(607-612)ata>a	p.SL203del	RAPGEF6_ENST00000308008.6_In_Frame_Del_p.SL203del|RAPGEF6_ENST00000510071.1_In_Frame_Del_p.SL203del|RAPGEF6_ENST00000307984.5_In_Frame_Del_p.SL203del|FNIP1_ENST00000514667.1_In_Frame_Del_p.SL253del|RAPGEF6_ENST00000296859.6_In_Frame_Del_p.SL203del|RAPGEF6_ENST00000507093.1_In_Frame_Del_p.SL203del	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	203					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		ATATCAGATAAACTGCTGCTTCC	0.404													33	58	---	---	---	---						-	130857102	AAC	-	130857100	7	5	99	1	0	1	0	1	0	0	0	0	13100	11	1	0	4769	0	RAPGEF6	5	130857100	In_Frame_Del	DEL	AAC	TCGA-EJ-A46F-01A-31D-A257-08	36074806	130857100	50058160	11	5224											
RGL2	5863	broad.mit.edu	37	chr6	33263944	33263944	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtccacccgggaccggagaTtgcggatgaggtcagcgctg	7	6	17	11	4	1	2	1	1	0	1	2	5	2	4	3	5	2	1	3	5	0	1	rs115737063	by1000genomes	TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr6:33263944T>C	ENST00000497454.1	-	6	1124	c.629A>G	c.(628-630)aAt>aGt	p.N210S	RGL2_ENST00000437840.2_5'UTR|RGL2_ENST00000444031.2_Missense_Mutation_p.N128S|PFDN6_ENST00000463584.1_Intron	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	210	N-terminal Ras-GEF.				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						GGACCGGAGATTGCGGATGAG	0.662													8	223					0	0	1	0	0	C	33263944	T	C	33263944	3	2	99	1	0	0	0	0	1	0	0	0	13329	1493	52	3	1756	3	RGL2	6	33263944	Missense_Mutation	SNP	T	TCGA-EJ-A46F-01A-31D-A257-08		33263944	137851123	12	5225											
SYNE1	23345	broad.mit.edu	37	chr6	152728304	152728304	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caggcttactctcagcctatCcatgttttcttcaagtttct	7	17	5	12	0	4	0	2	0	3	0	6	0	5	0	2	1	2	3	2	1	3	6			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr6:152728304C>T	ENST00000367255.5	-	45	7169	c.6568G>A	c.(6568-6570)Gat>Aat	p.D2190N	SYNE1_ENST00000265368.4_Missense_Mutation_p.D2190N|SYNE1_ENST00000423061.1_Missense_Mutation_p.D2197N|SYNE1_ENST00000448038.1_Missense_Mutation_p.D2197N|SYNE1_ENST00000341594.5_Missense_Mutation_p.D2227N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2190					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTCAGCCTATCCATGTTTTCT	0.443										HNSCC(10;0.0054)			25	16					0	0	1	0	0	T	152728304	C	T	152728304	3	4	99	1	0	0	0	0	1	0	0	0	15502	855	30	2	20306	2	SYNE1	6	152728304	Missense_Mutation	SNP	C	TCGA-EJ-A46F-01A-31D-A257-08	119464360	152728304	18386763	13	5226											
MUC17	140453	broad.mit.edu	37	chr7	100683805	100683805	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actgctgaaggtaccggcatAccaatctcaactcctagtga	12	9	8	12	1	1	2	1	2	1	0	3	2	2	2	3	2	4	3	3	2	6	3			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr7:100683805A>T	ENST00000306151.4	+	3	9172	c.9108A>T	c.(9106-9108)atA>atT	p.I3036I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3036	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTACCGGCATACCAATCTCAA	0.507													242	223					0	0	1	0	0	T	100683805	A	T	100683805	2	4	99	1	0	0	0	0	0	0	0	1	10022	381	14	5		5	MUC17	7	100683805	Silent	SNP	A	TCGA-EJ-A46F-01A-31D-A257-08		100683805	58454858	14	5227											
DOCK4	9732	broad.mit.edu	37	chr7	111503618	111503618	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaaagagctcagaaacacAgccttaaaaagaagaagaca	21	3	10	7	0	1	5	1	0	0	5	1	6	1	6	1	1	3	1	1	1	7	1			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr7:111503618A>T	ENST00000428084.1	-	23	2555	c.2283T>A	c.(2281-2283)gcT>gcA	p.A761A	DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000437633.1_Silent_p.A761A			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	761					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TCAGAAACACAGCCTTAAAAA	0.468													6	12					0	0	1	0	0	T	111503618	A	T	111503618	2	4	99	1	0	0	0	0	0	0	0	1	4716	175	7	5		5	DOCK4	7	111503618	Silent	SNP	A	TCGA-EJ-A46F-01A-31D-A257-08	10819813	111503618	47635045	15	5228											
DPYS	1807	broad.mit.edu	37	chr8	105393494	105393494	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactctggatttcagtgtggCgacttctcccttatagggtg	6	14	11	10	1	3	0	1	0	2	0	4	2	3	1	1	3	0	0	1	3	2	4			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr8:105393494C>T	ENST00000351513.2	-	9	1624	c.1492G>A	c.(1492-1494)Gcc>Acc	p.A498T	DPYS_ENST00000521601.1_5'UTR	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	498					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TTCAGTGTGGCGACTTCTCCC	0.488													40	83					0	0	1	0	0	T	105393494	C	T	105393494	3	4	99	1	0	0	0	0	1	0	0	0	4772	768	27	1	71	1	DPYS	8	105393494	Missense_Mutation	SNP	C	TCGA-EJ-A46F-01A-31D-A257-08		105393494	40970528	16	5229											
ZFAT	57623	broad.mit.edu	37	chr8	135612748	135612748	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgagtagtcacagccatcGgtgggacacttcagcaagat	11	9	12	9	1	2	2	2	1	0	1	3	3	2	3	1	2	2	3	1	2	2	3	rs144002982	by1000genomes	TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr8:135612748G>A	ENST00000520727.1	-	8	2669	c.2370C>T	c.(2368-2370)acC>acT	p.T790T	ZFAT-AS1_ENST00000505776.1_RNA|ZFAT_ENST00000377838.3_Silent_p.T802T|ZFAT_ENST00000429442.2_Silent_p.T790T|ZFAT_ENST00000523399.1_Silent_p.T740T|ZFAT_ENST00000520214.1_Silent_p.T790T|ZFAT_ENST00000520356.1_Silent_p.T790T	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	802					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			CACAGCCATCGGTGGGACACT	0.448													17	231					0	0	1	0	0	A	135612748	G	A	135612748	2	1	99	1	0	0	0	0	0	0	0	1	17690	1103	39	1		1	ZFAT	8	135612748	Silent	SNP	G	TCGA-EJ-A46F-01A-31D-A257-08	30219254	135612748	10751274	17	5230											
CUBN	8029	broad.mit.edu	37	chr10	16882353	16882353	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtgagtcctgaagctgtaaGtaattctgcgtgcagtcttg	8	13	13	7	1	2	2	0	2	2	0	3	2	3	2	1	1	3	4	1	1	3	4			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr10:16882353G>C	ENST00000377833.4	-	62	10073	c.10008C>G	c.(10006-10008)taC>taG	p.Y3336*		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3336	CUB 25.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAAGCTGTAAGTAATTCTGCG	0.443													4	71					0	0	1	0	0	C	16882353	G	C	16882353	4	2	99	1	0	0	0	0	0	1	0	0	4074	1024	36	4	887	4	CUBN	10	16882353	Nonsense_Mutation	SNP	G	TCGA-EJ-A46F-01A-31D-A257-08		16882353	118652394	18	5231											
ARID5B	84159	broad.mit.edu	37	chr10	63810670	63810670	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaatcttaaaggcagaccaCgcaaaaagaaaccatgccca	19	4	6	12	1	1	2	0	0	1	2	1	2	1	2	3	1	2	2	3	1	6	1			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr10:63810670C>T	ENST00000279873.7	+	5	1167	c.757C>T	c.(757-759)Cgc>Tgc	p.R253C	ARID5B_ENST00000309334.5_Missense_Mutation_p.R10C	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	253					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					AGGCAGACCACGCAAAAAGAA	0.398													22	44					0	0	1	0	0	T	63810670	C	T	63810670	3	4	99	1	0	0	0	0	1	0	0	0	919	536	19	1	775	1	ARID5B	10	63810670	Missense_Mutation	SNP	C	TCGA-EJ-A46F-01A-31D-A257-08	46928317	63810670	71724077	19	5232											
CSRP3	8048	broad.mit.edu	37	chr11	19213897	19213897	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactcactgcagtggaaacaCgtcttgtggaaactccttcc	11	10	8	12	1	2	0	1	0	1	0	4	2	4	2	2	2	4	1	2	2	3	2	rs147549410		TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr11:19213897C>T	ENST00000533783.1	-	3	339	c.99G>A	c.(97-99)acG>acA	p.T33T	CSRP3_ENST00000265968.3_Silent_p.T33T	NM_003476.4	NP_003467.1	P50461	CSRP3_HUMAN	cysteine and glycine-rich protein 3 (cardiac LIM protein)	33	LIM zinc-binding 1.				cell differentiation|skeletal muscle tissue development	cytoskeleton|nucleus	protein binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10						AGTGGAAACACGTCTTGTGGA	0.517													3	47					0	0	1	0	0	T	19213897	C	T	19213897	2	4	99	1	0	0	0	0	0	0	0	1	3994	523	19	1		1	CSRP3	11	19213897	Silent	SNP	C	TCGA-EJ-A46F-01A-31D-A257-08		19213897	115792619	20	5233											
FAM89B	23625	broad.mit.edu	37	chr11	65340909	65340909	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtcaatccaggactacaaaCacctgtgccaagacctgagc	14	6	8	13	0	1	2	1	1	0	1	2	3	2	3	4	1	4	0	4	1	4	1			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr11:65340909C>A	ENST00000316409.2	+	2	649	c.328C>A	c.(328-330)Cac>Aac	p.H110N	FAM89B_ENST00000449319.2_Missense_Mutation_p.T126K|FAM89B_ENST00000530349.1_Missense_Mutation_p.H123N	NM_001098784.1|NM_001098785.1|NM_152832.2	NP_001092254.1|NP_001092255.1|NP_690045.1	Q8N5H3	FA89B_HUMAN	family with sequence similarity 89, member B	110										large_intestine(1)|urinary_tract(2)	3						GGACTACAAACACCTGTGCCA	0.612													3	30					1	1	1	1	0	A	65340909	C	A	65340909	3	1	99	1	0	0	0	0	1	0	0	0	5679	478	17	4	383	4	FAM89B	11	65340909	Missense_Mutation	SNP	C	TCGA-EJ-A46F-01A-31D-A257-08	46127012	65340909	69665607	21	5234											
GAB2	9846	broad.mit.edu	37	chr11	77930359	77930359	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctctgaggactgccgcaCgtctgtccactcctgcatgg	6	9	12	14	2	2	1	0	1	2	0	4	2	4	2	3	3	2	3	3	3	0	0			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr11:77930359C>T	ENST00000361507.4	-	10	2075	c.1990G>A	c.(1990-1992)Gtg>Atg	p.V664M	GAB2_ENST00000340149.2_Missense_Mutation_p.V626M	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	664					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			GACTGCCGCACGTCTGTCCAC	0.592													39	37					0	0	1	0	0	T	77930359	C	T	77930359	3	4	99	1	0	0	0	0	1	0	0	0	6184	536	19	1	44	1	GAB2	11	77930359	Missense_Mutation	SNP	C	TCGA-EJ-A46F-01A-31D-A257-08	12589450	77930359	57076157	22	5235											
CCDC84	338657	broad.mit.edu	37	chr11	118868962	118868962	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaccttcttctgtggtcgcGggcacgtttacagccgcaag	7	10	12	12	4	2	1	0	0	2	1	3	1	2	1	2	2	2	3	2	2	2	4			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr11:118868962G>C	ENST00000334418.1	+	1	111	c.55G>C	c.(55-57)Ggg>Cgg	p.G19R		NM_198489.1	NP_940891.1	Q86UT8	CCD84_HUMAN	coiled-coil domain containing 84	19										breast(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		CTGTGGTCGCGGGCACGTTTA	0.672													4	4					0	0	1	0	0	C	118868962	G	C	118868962	3	2	99	1	0	0	0	0	1	0	0	0	2878	1116	39	4	57	4	CCDC84	11	118868962	Missense_Mutation	SNP	G	TCGA-EJ-A46F-01A-31D-A257-08	40938603	118868962	16137554	23	5236											
ITPR2	3709	broad.mit.edu	37	chr12	26580952	26580952	+	Frame_Shift_Del	DEL	A	A	-																															tacccacaggcttggagaagAaaaacagcatagatgtgcag																										TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr12:26580952delA	ENST00000381340.3	-	49	7255	c.6839delT	c.(6838-6840)tcfs	p.F2281fs		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2281					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					CTTGGAGAAGAAAAACAGCAT	0.393													17	27	---	---	---	---						-	26580952	A	-	26580952	7	5	99	1	0	1	0	1	0	0	0	0	7965	246	9	0	1302	0	ITPR2	12	26580952	Frame_Shift_Del	DEL	A	TCGA-EJ-A46F-01A-31D-A257-08		26580952	107270943	24	5237											
TMEM132B	114795	broad.mit.edu	37	chr12	125834175	125834175	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggagccattcttcatctaccGagccaggacaccccctatta	10	9	7	15	1	3	0	1	0	2	0	3	3	3	2	5	2	3	0	5	2	3	5			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr12:125834175G>A	ENST00000299308.3	+	2	238	c.230G>A	c.(229-231)cGa>cAa	p.R77Q	TMEM132B_ENST00000418253.2_3'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	77						integral to membrane		p.R77Q(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TTCATCTACCGAGCCAGGACA	0.507													23	136					0	0	1	0	0	A	125834175	G	A	125834175	3	1	99	1	0	0	0	0	1	0	0	0	16106	1058	37	1	236	1	TMEM132B	12	125834175	Missense_Mutation	SNP	G	TCGA-EJ-A46F-01A-31D-A257-08	99253223	125834175	8017720	25	5238											
SACS	26278	broad.mit.edu	37	chr13	23912525	23912525	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctcactcagggaaaacttCagagcctctcctgtgtccat	9	11	7	14	0	4	1	3	0	2	1	7	2	5	2	3	1	2	0	3	1	2	1			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr13:23912525C>T	ENST00000382298.3	-	10	6078	c.5490G>A	c.(5488-5490)ctG>ctA	p.L1830L	SACS_ENST00000402364.1_Silent_p.L1080L|SACS_ENST00000382292.3_Silent_p.L1830L	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	1830					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GGGAAAACTTCAGAGCCTCTC	0.488													60	76					0	0	1	0	0	T	23912525	C	T	23912525	2	4	99	1	0	0	0	0	0	0	0	1	13856	813	29	2		2	SACS	13	23912525	Silent	SNP	C	TCGA-EJ-A46F-01A-31D-A257-08		23912525	91257353	26	5239											
LRFN5	145581	broad.mit.edu	37	chr14	42356737	42356737	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agagtcctggagggacaaagGgcaacactgaggtgcaaagc	14	4	15	8	0	0	2	0	1	0	1	1	4	1	4	1	4	3	2	1	4	3	0			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr14:42356737G>A	ENST00000554171.1	+	5	3341	c.909G>A	c.(907-909)agG>agA	p.R303R	LRFN5_ENST00000554120.1_Silent_p.R303R|LRFN5_ENST00000298119.4_Silent_p.R303R			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	303	Ig-like.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		AGGGACAAAGGGCAACACTGA	0.483										HNSCC(30;0.082)			42	44					0	0	1	0	0	A	42356737	G	A	42356737	2	1	99	1	0	0	0	0	0	0	0	1	8986	1223	43	2		2	LRFN5	14	42356737	Silent	SNP	G	TCGA-EJ-A46F-01A-31D-A257-08		42356737	64992803	27	5240											
IL27	246778	broad.mit.edu	37	chr16	28511176	28511178	+	In_Frame_Del	DEL	CTC	CTC	-																															cctgggagcagccccttcctCtcctcctcctcctcctcctc																										TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr16:28511176_28511178delCTC	ENST00000356897.1	-	5	548_550	c.526_528delGAG	c.(526-528)del	p.E176del		NM_145659.3	NP_663634.2	Q8NEV9	IL27A_HUMAN	interleukin 27	176	Glu-rich.				inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation	extracellular space	cytokine activity|interleukin-27 receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	10						GCCCCTtcctctcctcctcctcc	0.685													3	3	---	---	---	---						-	28511178	CTC	-	28511176	7	5	99	1	0	1	0	1	0	0	0	0	7724	912	32	0	207	0	IL27	16	28511176	In_Frame_Del	DEL	CTC	TCGA-EJ-A46F-01A-31D-A257-08		28511176	61843577	28	5241											
EIF4A1	1973	broad.mit.edu	37	chr17	7480916	7480916	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggacacactatgtgacttGtatgaaaccctgaccatcac	12	10	7	12	0	1	3	1	3	0	0	1	4	1	4	2	1	1	1	2	1	3	3			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr17:7480916G>C	ENST00000293831.8	+	8	814	c.798G>C	c.(796-798)ttG>ttC	p.L266F	EIF4A1_ENST00000582746.1_Missense_Mutation_p.L266F|EIF4A1_ENST00000577269.1_Missense_Mutation_p.L266F|SENP3-EIF4A1_ENST00000579777.1_RNA	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1	266	Helicase C-terminal.				nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						TATGTGACTTGTATGAAACCC	0.532													59	11					0	0	1	0	0	C	7480916	G	C	7480916	3	2	99	1	0	0	0	0	1	0	0	0	5052	1368	48	4	828	4	EIF4A1	17	7480916	Missense_Mutation	SNP	G	TCGA-EJ-A46F-01A-31D-A257-08		7480916	73714294	29	5242											
PMP22	5376	broad.mit.edu	37	chr17	15134175	15134175	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttctttgtctgctttctgTtttcccttcctcccttccct	0	23	3	15	0	3	0	0	0	3	0	7	0	7	0	4	0	1	2	4	0	0	8	rs13422	by1000genomes	TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr17:15134175T>G	ENST00000494511.1	-	3	529	c.363A>C	c.(361-363)aaA>aaC	p.K121N	PMP22_ENST00000395936.1_3'UTR|PMP22_ENST00000395938.2_3'UTR|PMP22_ENST00000312280.3_3'UTR			Q01453	PMP22_HUMAN	peripheral myelin protein 22	0					peripheral nervous system development|synaptic transmission	integral to membrane				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8				UCEC - Uterine corpus endometrioid carcinoma (92;0.0884)|BRCA - Breast invasive adenocarcinoma(8;4.92e-06)		CTGCTTTCTGTTTTCCCTTCC	0.498													3	34					0	0	1	0	0	G	15134175	T	G	15134175	3	3	99	1	0	0	0	0	1	0	0	0	12187	1740	60	5		5	PMP22	17	15134175	Missense_Mutation	SNP	T	TCGA-EJ-A46F-01A-31D-A257-08	7653259	15134175	66061035	30	5243											
DLX4	0	broad.mit.edu	37	chr17	48050406	48050406	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccccctcgctccctcctcGccccctacaccgtgttgtgc	3	10	6	22	3	0	0	0	0	0	0	4	0	2	0	7	0	3	2	7	0	2	3			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr17:48050406G>A	ENST00000411890.2	+	1	277	c.37G>A	c.(37-39)Gcc>Acc	p.A13T	DLX4_ENST00000503410.1_Intron|DLX4_ENST00000240306.3_Intron	NM_001934.3	NP_001925.2	Q92988	DLX4_HUMAN	distal-less homeobox 4	80				MTSLPCPLPGRDASKAVFPDLAPVPSVAAAYPLGLSPTTAA SPNLSYSRPYGHLLSYPYTEPANPGDSYLSCQQPAALSQPL CGPAEHPQELEA -> GGSLSLPPEPLCARCPTKEGAAPRR PGFWGSLETQAATVWRGRHGHFSCRVRLSRGAARYSRRGQG KPGVTISAARLVFKVLSAGPLTHPAGRSRRLPRGHRLKPLS IALSLCLQCPSSVISRPRLSPGPSLSAPPYPKLAPPPVAEL RPPTAGAAVPWLWPSARFLPRVTGPIRVGAPLGAELRLVSP GAVNVGVETLHAE (in Ref. 9).	multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3)	10						CTCCCTCCTCGCCCCCTACAC	0.632													39	34					0	0	1	0	0	A	48050406	G	A	48050406	3	1	99	1	0	0	0	0	1	0	0	0	4601	1087	38	1	326	1	DLX4	17	48050406	Missense_Mutation	SNP	G	TCGA-EJ-A46F-01A-31D-A257-08	32916231	48050406	33144804	31	5244											
BTBD2	55643	broad.mit.edu	37	chr19	1986928	1986928	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgagccgtcgcagctgaaGcccgtgtcgttctggcccaa	6	8	13	14	4	1	2	0	2	1	0	3	2	1	2	3	1	3	4	3	1	2	1			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr19:1986928G>A	ENST00000255608.4	-	8	1333	c.1317C>T	c.(1315-1317)ggC>ggT	p.G439G		NM_017797.3	NP_060267.2	Q9BX70	BTBD2_HUMAN	BTB (POZ) domain containing 2	439						cytoplasmic mRNA processing body	protein binding			endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCAGCTGAAGCCCGTGTCGT	0.637													45	10					0	0	1	0	0	A	1986928	G	A	1986928	2	1	99	1	0	0	0	0	0	0	0	1	1546	958	34	2		2	BTBD2	19	1986928	Silent	SNP	G	TCGA-EJ-A46F-01A-31D-A257-08		1986928	57142055	32	5245											
MUC16	94025	broad.mit.edu	37	chr19	9058119	9058119	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgaactggttttaggctctGagcttgtatccaacacttct	9	15	8	9	0	2	2	0	2	2	0	3	2	3	2	1	2	3	4	1	2	4	5			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr19:9058119G>C	ENST00000397910.4	-	3	29530	c.29327C>G	c.(29326-29328)tCa>tGa	p.S9776*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9778	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTTAGGCTCTGAGCTTGTATC	0.468													10	32					0	0	1	0	0	C	9058119	G	C	9058119	4	2	99	1	0	0	0	0	0	1	0	0	10021	1294	45	4	14524	4	MUC16	19	9058119	Nonsense_Mutation	SNP	G	TCGA-EJ-A46F-01A-31D-A257-08	7071191	9058119	50070864	33	5246											
RASAL3	64926	broad.mit.edu	37	chr19	15574887	15574887	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctggctccggcggtgggtTcttatgcctcccccagaggg	3	10	15	13	2	2	1	0	0	2	1	4	1	4	1	4	5	1	2	4	5	1	2			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr19:15574887T>C	ENST00000343625.6	-	2	363	c.283A>G	c.(283-285)Aac>Gac	p.N95D		NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	95					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						GGCGGTGGGTTCTTATGCCTC	0.672													7	19					0	0	1	0	0	C	15574887	T	C	15574887	3	2	99	1	0	0	0	0	1	0	0	0	13117	1783	62	3	2820	3	RASAL3	19	15574887	Missense_Mutation	SNP	T	TCGA-EJ-A46F-01A-31D-A257-08	6516768	15574887	43554096	34	5247											
SLC5A5	6528	broad.mit.edu	37	chr19	17999206	17999206	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccatctcctatctctattaCggtgccctgggcacgctgac	6	11	9	15	2	2	1	0	1	2	0	4	1	2	1	3	2	2	2	3	2	3	3	rs121909177		TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr19:17999206C>T	ENST00000222248.3	+	13	1940	c.1593C>T	c.(1591-1593)taC>taT	p.Y531Y		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	531					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						ATCTCTATTACGGTGCCCTGG	0.572													53	78					0	0	1	0	0	T	17999206	C	T	17999206	2	4	99	1	0	0	0	0	0	0	0	1	14723	547	19	1		1	SLC5A5	19	17999206	Silent	SNP	C	TCGA-EJ-A46F-01A-31D-A257-08	2424319	17999206	41129777	35	5248											
SPTBN4	57731	broad.mit.edu	37	chr19	40996148	40996148	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtctggaccatcatcctgcGcttccaggtgaccctcgagt	6	10	11	14	2	2	1	1	1	1	0	5	3	4	2	4	3	1	1	4	3	0	1			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr19:40996148G>A	ENST00000352632.3	+	4	574	c.488G>A	c.(487-489)cGc>cAc	p.R163H	SPTBN4_ENST00000598249.1_Missense_Mutation_p.R163H|SPTBN4_ENST00000595535.1_Missense_Mutation_p.R163H|SPTBN4_ENST00000344104.3_Missense_Mutation_p.R163H|SPTBN4_ENST00000338932.3_Missense_Mutation_p.R163H			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	163	Actin-binding.|CH 1.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ATCATCCTGCGCTTCCAGGTG	0.577													18	20					0	0	1	0	0	A	40996148	G	A	40996148	3	1	99	1	0	0	0	0	1	0	0	0	15177	1087	38	1	498	1	SPTBN4	19	40996148	Missense_Mutation	SNP	G	TCGA-EJ-A46F-01A-31D-A257-08	22996942	40996148	18132835	36	5249											
PLTP	5360	broad.mit.edu	37	chr20	44538242	44538242	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatccgtccagcgggatccCgggagagctccagaccagtg	8	6	13	14	3	1	2	1	0	0	2	5	4	5	3	5	2	2	1	5	2	0	0			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr20:44538242C>T	ENST00000477313.1	-	4	992	c.398G>A	c.(397-399)cGg>cAg	p.R133Q	PLTP_ENST00000420868.2_Intron|PLTP_ENST00000372420.1_Missense_Mutation_p.R45Q|PLTP_ENST00000372431.3_Missense_Mutation_p.R133Q|PLTP_ENST00000354050.4_Intron|PLTP_ENST00000542937.1_Missense_Mutation_p.R153Q			P55058	PLTP_HUMAN	phospholipid transfer protein	133					cellular lipid metabolic process|lipid transport	extracellular region	lipid binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				AGCGGGATCCCGGGAGAGCTC	0.597													7	138					0	0	1	0	0	T	44538242	C	T	44538242	3	4	99	1	0	0	0	0	1	0	0	0	12162	652	23	1	1131	1	PLTP	20	44538242	Missense_Mutation	SNP	C	TCGA-EJ-A46F-01A-31D-A257-08		44538242	18487278	37	5250											
TOP3B	8940	broad.mit.edu	37	chr22	22322019	22322019	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catgtttaaaaacatctgtgCgatctcccggtcaaacactc	12	11	6	12	2	3	0	1	0	2	0	5	1	3	0	1	1	3	1	1	1	4	2			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr22:22322019C>A	ENST00000398793.2	-	8	1242	c.808G>T	c.(808-810)Gca>Tca	p.A270S	TOP3B_ENST00000357179.5_Missense_Mutation_p.A270S|TOP3B_ENST00000413067.2_5'UTR	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	270					DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		AACATCTGTGCGATCTCCCGG	0.507													32	46					1.61788e-16	1.70014e-16	1	1	0	A	22322019	C	A	22322019	3	1	99	1	0	0	0	0	1	0	0	0	16429	768	27	4	1824	4	TOP3B	22	22322019	Missense_Mutation	SNP	C	TCGA-EJ-A46F-01A-31D-A257-08		22322019	28982547	38	5251											
SEZ6L	23544	broad.mit.edu	37	chr22	26761444	26761444	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccctcaccttcatgtgctaCgaaggctttgagctcatggg	7	12	10	12	1	3	1	3	1	0	0	4	2	4	1	2	2	3	3	2	2	2	3	rs146313552	byFrequency	TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr22:26761444C>T	ENST00000529632.2	+	13	2902	c.2706C>T	c.(2704-2706)taC>taT	p.Y902Y	SEZ6L_ENST00000411842.2_Silent_p.Y99Y|SEZ6L_ENST00000402979.1_Silent_p.Y675Y|SEZ6L_ENST00000360929.3_Silent_p.Y838Y|SEZ6L_ENST00000343706.4_Intron|SEZ6L_ENST00000494013.1_3'UTR|SEZ6L_ENST00000404234.3_Silent_p.Y902Y|SEZ6L_ENST00000248933.6_Silent_p.Y902Y|SEZ6L_ENST00000403121.1_Intron	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	902	Sushi 5.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TCATGTGCTACGAAGGCTTTG	0.552													11	88					0	0	1	0	0	T	26761444	C	T	26761444	2	4	99	1	0	0	0	0	0	0	0	1	14197	547	19	1		1	SEZ6L	22	26761444	Silent	SNP	C	TCGA-EJ-A46F-01A-31D-A257-08	4439425	26761444	24543122	39	5252											
MTMR3	8897	broad.mit.edu	37	chr22	30409441	30409441	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actcggatgatctgaatgaaCgttgcccagtgtttctgcag	9	12	11	9	2	2	3	0	3	2	0	3	4	2	4	1	1	3	3	1	1	2	2			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chr22:30409441C>T	ENST00000333027.3	+	14	1742	c.1414C>T	c.(1414-1416)Cgt>Tgt	p.R472C	MTMR3_ENST00000401950.2_Missense_Mutation_p.R472C|MTMR3_ENST00000351488.3_Missense_Mutation_p.R472C|MTMR3_ENST00000323630.5_Missense_Mutation_p.R336C|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000406629.1_Missense_Mutation_p.R472C	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	472	Myotubularin phosphatase.				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			TCTGAATGAACGTTGCCCAGT	0.473													19	155					0	0	1	0	0	T	30409441	C	T	30409441	3	4	99	1	0	0	0	0	1	0	0	0	9993	536	19	1	1460	1	MTMR3	22	30409441	Missense_Mutation	SNP	C	TCGA-EJ-A46F-01A-31D-A257-08	3647997	30409441	20895125	40	5253											
MPP1	4354	broad.mit.edu	37	chrX	154020488	154020488	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgtcccttgacctgggCagggctacctggggcaggag	5	8	15	13	0	0	1	0	1	0	0	2	2	2	2	4	5	1	3	4	5	1	2			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chrX:154020488C>T	ENST00000413259.3	-	3	477	c.85G>A	c.(85-87)Gcc>Acc	p.A29T	MPP1_ENST00000369534.3_Missense_Mutation_p.A59T|MPP1_ENST00000462825.1_Intron|MPP1_ENST00000393531.1_Missense_Mutation_p.A59T	NM_001166462.1	NP_001159934.1	Q00013	EM55_HUMAN	membrane protein, palmitoylated 1, 55kDa	59					regulation of neutrophil chemotaxis|signal transduction	integral to plasma membrane|membrane fraction|stereocilium	guanylate kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TTGACCTGGGCAGGGCTACCT	0.542													7	52					0	0	1	0	0	T	154020488	C	T	154020488	3	4	99	1	0	0	0	0	1	0	0	0	9782	710	25	2	1269	2	MPP1	23	154020488	Missense_Mutation	SNP	C	TCGA-EJ-A46F-01A-31D-A257-08		154020488	1250072	41	5254											
FUNDC2	65991	broad.mit.edu	37	chrX	154282921	154282921	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taactgggggatttttcggaGgctttctgcttggcatggca	6	14	14	7	1	1	0	0	0	1	0	2	2	1	2	0	6	2	4	0	6	1	5			TCGA-EJ-A46F-01A-31D-A257-08	TCGA-EJ-A46F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6d5463-8229-4c14-b625-910f36daf247	a3cec60f-0430-4c8a-b14c-1fec64f3e1ac	g.chrX:154282921G>C	ENST00000369498.3	+	5	798	c.544G>C	c.(544-546)Ggc>Cgc	p.G182R	FUNDC2_ENST00000484175.1_3'UTR	NM_023934.3	NP_076423.2	Q9BWH2	FUND2_HUMAN	FUN14 domain containing 2	182						mitochondrion				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ATTTTTCGGAGGCTTTCTGCT	0.428													4	86					0	0	1	0	0	C	154282921	G	C	154282921	3	2	99	1	0	0	0	0	1	0	0	0	6133	1000	35	4	562	4	FUNDC2	23	154282921	Missense_Mutation	SNP	G	TCGA-EJ-A46F-01A-31D-A257-08	262433	154282921	987639	42	5255											
UBXN10	127733	broad.mit.edu	37	chr1	20517520	20517520	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaagacgagacgggcaccAtgaagacaagtgaagaagat	18	3	12	8	2	0	7	0	2	0	5	0	8	0	7	2	1	0	1	2	1	5	0			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr1:20517520A>G	ENST00000375099.3	+	2	550	c.466A>G	c.(466-468)Atg>Gtg	p.M156V		NM_152376.3	NP_689589.1	Q96LJ8	UBX10_HUMAN	UBX domain protein 10	156										endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						GACGGGCACCATGAAGACAAG	0.527													17	21					0	0	1	0	0	G	20517520	A	G	20517520	3	3	100	1	0	0	0	0	1	0	0	0	16972	217	8	3	468	3	UBXN10	1	20517520	Missense_Mutation	SNP	A	TCGA-EJ-A46G-01A-31D-A26M-08		20517520	228733101	1	5256											
TCHH	7062	broad.mit.edu	37	chr1	152082220	152082220	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctggcgccttctcttctccGgttcctctctcagcagctgc	2	13	8	18	2	4	0	1	0	3	0	8	0	5	0	4	2	3	3	4	2	0	3	rs113946258		TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr1:152082220G>C	ENST00000368804.1	-	2	3472	c.3473C>G	c.(3472-3474)cCg>cGg	p.P1158R		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1158	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTCTTCTCCGGTTCCTCTCT	0.592													3	32					0	0	1	0	0	C	152082220	G	C	152082220	3	2	100	1	0	0	0	0	1	0	0	0	15760	1116	39	4	2362	4	TCHH	1	152082220	Missense_Mutation	SNP	G	TCGA-EJ-A46G-01A-31D-A26M-08	131564700	152082220	97168401	2	5257											
VANGL2	57216	broad.mit.edu	37	chr1	160389317	160389317	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgtggtcctgctggagctgCgccagctccagcctcagttc	4	9	12	16	2	1	0	1	0	0	0	4	1	3	1	5	2	5	4	5	2	0	1			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr1:160389317C>T	ENST00000368061.2	+	4	1192	c.718C>T	c.(718-720)Cgc>Tgc	p.R240C	VANGL2_ENST00000483408.1_3'UTR	NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	240					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCTGGAGCTGCGCCAGCTCCA	0.657													20	26					0	0	1	0	0	T	160389317	C	T	160389317	3	4	100	1	0	0	0	0	1	0	0	0	17180	768	27	1	728	1	VANGL2	1	160389317	Missense_Mutation	SNP	C	TCGA-EJ-A46G-01A-31D-A26M-08	8307097	160389317	88861304	3	5258											
VANGL2	57216	broad.mit.edu	37	chr1	160394001	160394001	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taccttcggaccaccaagcaGcagccctaccacaccatgga	12	5	7	17	1	0	0	0	0	0	0	1	2	0	2	6	2	5	2	6	2	3	3			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr1:160394001G>A	ENST00000368061.2	+	7	1707	c.1233G>A	c.(1231-1233)caG>caA	p.Q411Q		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	411					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCACCAAGCAGCAGCCCTACC	0.592													20	39					0	0	1	0	0	A	160394001	G	A	160394001	2	1	100	1	0	0	0	0	0	0	0	1	17180	962	34	2		2	VANGL2	1	160394001	Silent	SNP	G	TCGA-EJ-A46G-01A-31D-A26M-08	4684	160394001	88856620	4	5259											
ADAMTS4	9507	broad.mit.edu	37	chr1	161166338	161166338	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atggcctgcggtgctgactgGggcctcacctgacgggtaaa	7	8	15	11	2	1	2	1	2	0	0	1	2	1	2	3	5	2	2	3	5	2	1	rs143383079	by1000genomes	TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr1:161166338G>C	ENST00000367995.3	-	2	1391	c.966C>G	c.(964-966)ccC>ccG	p.P322P	ADAMTS4_ENST00000367996.4_Intron			O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	0	Peptidase M12B.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GTGCTGACTGGGGCCTCACCT	0.557													4	62					0	0	1	0	0	C	161166338	G	C	161166338	2	2	100	1	0	0	0	0	0	0	0	1	267	1247	43	4		4	ADAMTS4	1	161166338	Silent	SNP	G	TCGA-EJ-A46G-01A-31D-A26M-08	772337	161166338	88084283	5	5260											
CNTN2	6900	broad.mit.edu	37	chr1	205027445	205027445	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcctggcctccaacccagtgGgcaccgttgtcagcagggag	7	6	14	14	1	1	0	1	0	0	0	2	1	2	1	5	3	2	3	5	3	1	1			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr1:205027445G>T	ENST00000331830.4	+	4	636	c.352G>T	c.(352-354)Ggc>Tgc	p.G118C		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	118	Ig-like C2-type 1.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CAACCCAGTGGGCACCGTTGT	0.642													3	39					6.4e-05	7.24819e-05	1	1	0	T	205027445	G	T	205027445	3	4	100	1	0	0	0	0	1	0	0	0	3664	1232	43	4	362	4	CNTN2	1	205027445	Missense_Mutation	SNP	G	TCGA-EJ-A46G-01A-31D-A26M-08	43861107	205027445	44223176	6	5261											
USH2A	7399	broad.mit.edu	37	chr1	216462740	216462740	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagtaatccttgcacagcTcacagttccttcctgcatca	12	11	5	13	0	2	0	2	0	0	0	5	0	5	0	3	0	3	5	3	0	3	4			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr1:216462740T>A	ENST00000366943.2	-	11	2239	c.1853A>T	c.(1852-1854)gAg>gTg	p.E618V	USH2A_ENST00000307340.3_Missense_Mutation_p.E618V|USH2A_ENST00000366942.3_Missense_Mutation_p.E618V			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	618	Laminin EGF-like 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTTGCACAGCTCACAGTTCCT	0.403										HNSCC(13;0.011)			6	45					0	0	1	0	0	A	216462740	T	A	216462740	3	1	100	1	0	0	0	0	1	0	0	0	17096	1551	54	5	14017	5	USH2A	1	216462740	Missense_Mutation	SNP	T	TCGA-EJ-A46G-01A-31D-A26M-08	11435295	216462740	32787881	7	5262											
INPP4A	3631	broad.mit.edu	37	chr2	99182212	99182212	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctccgcagacatgctgccCgtcatcacaggaaatcggta	10	7	10	14	3	2	1	2	0	0	1	4	2	3	2	3	2	2	3	3	2	2	1			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr2:99182212C>T	ENST00000074304.5	+	21	2670	c.2277C>T	c.(2275-2277)ccC>ccT	p.P759P	INPP4A_ENST00000409540.3_Silent_p.P720P|INPP4A_ENST00000409463.1_Silent_p.P88P|INPP4A_ENST00000545415.1_Silent_p.P720P|INPP4A_ENST00000409016.3_Silent_p.P720P|INPP4A_ENST00000409851.3_Silent_p.P754P|INPP4A_ENST00000523221.1_Silent_p.P759P	NM_001134224.1	NP_001127696.1	Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	759					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						ACATGCTGCCCGTCATCACAG	0.483													16	47					0	0	1	0	0	T	99182212	C	T	99182212	2	4	100	1	0	0	0	0	0	0	0	1	7796	639	23	1		1	INPP4A	2	99182212	Silent	SNP	C	TCGA-EJ-A46G-01A-31D-A26M-08		99182212	144017161	8	5263											
TANC1	85461	broad.mit.edu	37	chr2	160050845	160050845	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aataatgccccaatcctgtgCgtccagtctcaccttggcca	9	10	7	15	1	1	0	1	0	1	0	4	0	3	0	6	1	2	0	6	1	3	2			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr2:160050845C>T	ENST00000263635.6	+	17	3057	c.2820C>T	c.(2818-2820)tgC>tgT	p.C940C	TANC1_ENST00000454300.1_Silent_p.C834C	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	940						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CAATCCTGTGCGTCCAGTCTC	0.552													12	27					0	0	1	0	0	T	160050845	C	T	160050845	2	4	100	1	0	0	0	0	0	0	0	1	15601	776	27	1		1	TANC1	2	160050845	Silent	SNP	C	TCGA-EJ-A46G-01A-31D-A26M-08	60868633	160050845	83148528	9	5264											
TTN	7273	broad.mit.edu	37	chr2	179399093	179399093	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgttttaatgttctgataacTttagtactgactctttctat	9	21	5	6	0	3	2	0	2	3	0	3	2	3	2	0	0	2	3	0	0	5	9			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr2:179399093T>C	ENST00000589042.1	-	358	102473	c.102249A>G	c.(102247-102249)aaA>aaG	p.K34083K	TTN_ENST00000359218.5_Silent_p.K25143K|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000342992.6_Silent_p.K31515K|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000460472.2_Silent_p.K25018K|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.K25210K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000591111.1_Silent_p.K32442K|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32442	Ig-like 151.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTGATAACTTTAGTACTGA	0.473													21	18					0	0	1	0	0	C	179399093	T	C	179399093	2	2	100	1	0	0	0	0	0	0	0	1	16797	1606	56	3		3	TTN	2	179399093	Silent	SNP	T	TCGA-EJ-A46G-01A-31D-A26M-08	19348248	179399093	63800280	10	5265											
COL3A1	1281	broad.mit.edu	37	chr2	189859302	189859302	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggtgccaaaggagagccCggaccacgtggtgaacgcgt	11	5	15	10	4	0	2	0	1	0	1	0	4	0	3	3	4	3	0	3	4	3	0			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr2:189859302C>T	ENST00000304636.3	+	19	1499	c.1329C>T	c.(1327-1329)ccC>ccT	p.P443P	COL3A1_ENST00000317840.5_Silent_p.P443P	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	443	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	AAGGAGAGCCCGGACCACGTG	0.398													10	42					0	0	1	0	0	T	189859302	C	T	189859302	2	4	100	1	0	0	0	0	0	0	0	1	3711	639	23	1		1	COL3A1	2	189859302	Silent	SNP	C	TCGA-EJ-A46G-01A-31D-A26M-08	10460209	189859302	53340071	11	5266											
IRS1	3667	broad.mit.edu	37	chr2	227662463	227662463	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacatggtgccttcgccgTcactggaggcgcggacacgg	6	6	17	12	5	1	0	1	0	0	0	2	3	1	3	2	6	1	0	2	6	0	1			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr2:227662463T>A	ENST00000305123.4	-	1	2012	c.992A>T	c.(991-993)gAc>gTc	p.D331V		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	331	Ser-rich.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GCCTTCGCCGTCACTGGAGGC	0.716											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	162					0	0	1	0	0	A	227662463	T	A	227662463	3	1	100	1	0	0	0	0	1	0	0	0	7884	1667	58	5	2740	5	IRS1	2	227662463	Missense_Mutation	SNP	T	TCGA-EJ-A46G-01A-31D-A26M-08	37803161	227662463	15536910	12	5267											
VHL	7428	broad.mit.edu	37	chr3	10191575	10191575	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctctacgaagatctggaaGaccacccaaatgtgcagaaa	15	6	9	11	2	2	3	0	0	2	3	2	5	2	4	2	1	2	2	2	1	5	1			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr3:10191575G>T	ENST00000256474.2	+	3	1408	c.568G>T	c.(568-570)Gac>Tac	p.D190Y	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Missense_Mutation_p.D149Y	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	190					anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	p.E189fs*12(2)|p.D190fs*12(1)|p.D187_N193del(1)|p.D190fs*>25(1)|p.Y185fs*11(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		AGATCTGGAAGACCACCCAAA	0.502		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia				7	17					5.18039e-06	5.9385e-06	1	1	0	T	10191575	G	T	10191575	3	4	100	1	0	0	0	0	1	0	0	0	17222	942	33	4	578	4	VHL	3	10191575	Missense_Mutation	SNP	G	TCGA-EJ-A46G-01A-31D-A26M-08		10191575	187830855	13	5268											
NUP210	23225	broad.mit.edu	37	chr3	13393391	13393391	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aagcttaccatggcgacaccCctggcctcctggtaggccac	8	7	10	16	1	0	0	0	0	0	0	1	1	1	0	6	4	2	2	6	4	3	2			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr3:13393391C>T	ENST00000254508.5	-	20	2905	c.2823G>A	c.(2821-2823)agG>agA	p.R941R		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	941					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TGGCGACACCCCTGGCCTCCT	0.532													4	56					0	0	1	0	0	T	13393391	C	T	13393391	2	4	100	1	0	0	0	0	0	0	0	1	10808	622	22	2		2	NUP210	3	13393391	Silent	SNP	C	TCGA-EJ-A46G-01A-31D-A26M-08	3201816	13393391	184629039	14	5269											
SCAP	22937	broad.mit.edu	37	chr3	47455419	47455419	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagttgcagacaatggcagcGttgtccagcaccaggatctg	11	8	12	10	1	1	1	0	0	1	1	2	2	2	2	2	2	3	5	2	2	2	2	rs112830289	byFrequency	TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr3:47455419G>A	ENST00000265565.5	-	23	4177	c.3765C>T	c.(3763-3765)aaC>aaT	p.N1255N	SCAP_ENST00000441517.2_Silent_p.N999N|SCAP_ENST00000545718.1_Silent_p.N862N	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	1255	Interaction with SREBF2 (By similarity).				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CAATGGCAGCGTTGTCCAGCA	0.592													7	211					0	0	1	0	0	A	47455419	G	A	47455419	2	1	100	1	0	0	0	0	0	0	0	1	13930	1136	40	1		1	SCAP	3	47455419	Silent	SNP	G	TCGA-EJ-A46G-01A-31D-A26M-08	34062028	47455419	150567011	15	5270											
TRAIP	10293	broad.mit.edu	37	chr3	49881269	49881269	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcatctcggccttgcccaAggcctgctgcagagatacca	9	7	10	15	1	1	1	0	0	1	1	2	2	1	1	4	2	5	3	4	2	2	2			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr3:49881269A>T	ENST00000331456.2	-	5	486	c.373T>A	c.(373-375)Ttg>Atg	p.L125M	TRAIP_ENST00000469027.1_Intron	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	125					cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCCTTGCCCAAGGCCTGCTGC	0.537													30	64					0	0	1	0	0	T	49881269	A	T	49881269	3	4	100	1	0	0	0	0	1	0	0	0	16509	69	3	5	1080	5	TRAIP	3	49881269	Missense_Mutation	SNP	A	TCGA-EJ-A46G-01A-31D-A26M-08	2425850	49881269	148141161	16	5271											
IFT122	55764	broad.mit.edu	37	chr3	129168739	129168739	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgacatcgcatttaagcctGatggaactcaactgattttg	12	13	8	8	1	1	3	1	3	0	0	2	4	1	4	1	1	3	1	1	1	3	4			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr3:129168739G>T	ENST00000296266.3	+	2	259	c.67G>T	c.(67-69)Gat>Tat	p.D23Y	IFT122_ENST00000507564.1_Missense_Mutation_p.D23Y|IFT122_ENST00000431818.2_5'UTR|IFT122_ENST00000504021.1_Missense_Mutation_p.D23Y|IFT122_ENST00000349441.2_Missense_Mutation_p.D23Y|IFT122_ENST00000348417.2_Missense_Mutation_p.D23Y|IFT122_ENST00000347300.2_Missense_Mutation_p.D23Y|IFT122_ENST00000440957.2_5'UTR	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	23					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						ATTTAAGCCTGATGGAACTCA	0.408													5	75					0.00116845	0.00126246	1	1	0	T	129168739	G	T	129168739	3	4	100	1	0	0	0	0	1	0	0	0	7599	1290	45	4	73	4	IFT122	3	129168739	Missense_Mutation	SNP	G	TCGA-EJ-A46G-01A-31D-A26M-08	79287470	129168739	68853691	17	5272											
COL6A6	131873	broad.mit.edu	37	chr3	130284217	130284217	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caccgagattcagaagacaaCgtgacaaaagcagctgttaa	17	6	9	9	2	1	4	1	1	0	3	1	5	1	4	1	0	3	3	1	0	5	2			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr3:130284217C>T	ENST00000358511.6	+	3	1072	c.1041C>T	c.(1039-1041)aaC>aaT	p.N347N	COL6A6_ENST00000453409.2_Silent_p.N347N	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	347	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CAGAAGACAACGTGACAAAAG	0.557													14	165					0	0	1	0	0	T	130284217	C	T	130284217	2	4	100	1	0	0	0	0	0	0	0	1	3726	535	19	1		1	COL6A6	3	130284217	Silent	SNP	C	TCGA-EJ-A46G-01A-31D-A26M-08	1115478	130284217	67738213	18	5273											
MSL2	55167	broad.mit.edu	37	chr3	135913890	135913890	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtaaacgccttggggtctccGgggtcgtagttgagcactag	7	10	15	9	3	1	1	0	1	1	0	3	1	1	1	2	4	2	4	2	4	4	5			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr3:135913890G>T	ENST00000309993.2	-	1	798	c.66C>A	c.(64-66)ccC>ccA	p.P22P		NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	22					histone H4-K16 acetylation	MSL complex	zinc ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						TGGGGTCTCCGGGGTCGTAGT	0.527													70	131					2.10328e-26	2.63612e-26	1	1	0	T	135913890	G	T	135913890	2	4	100	1	0	0	0	0	0	0	0	1	9927	1103	39	4		4	MSL2	3	135913890	Silent	SNP	G	TCGA-EJ-A46G-01A-31D-A26M-08	5629673	135913890	62108540	19	5274											
LEKR1	389170	broad.mit.edu	37	chr3	156746095	156746095	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatgattcagtttcagaaaaCttgaggaaggaaatggaaca	18	9	10	4	0	2	3	2	2	0	1	2	6	2	6	0	3	2	1	0	3	6	3			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr3:156746095C>G	ENST00000470811.1	+	13	1995	c.660C>G	c.(658-660)aaC>aaG	p.N220K	LEKR1_ENST00000356539.4_Missense_Mutation_p.N524K			D3DNK7	D3DNK7_HUMAN	leucine, glutamate and lysine rich 1	105										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TTTCAGAAAACTTGAGGAAGG	0.358													11	13					0	0	1	0	0	G	156746095	C	G	156746095	3	3	100	1	0	0	0	0	1	0	0	0	8756	564	20	4	1614	4	LEKR1	3	156746095	Missense_Mutation	SNP	C	TCGA-EJ-A46G-01A-31D-A26M-08	20832205	156746095	41276335	20	5275											
LRRC15	131578	broad.mit.edu	37	chr3	194081183	194081183	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gccggaggacctggaggttgCccaggtgctggaagaccctg	7	6	17	11	1	0	1	0	0	0	1	0	5	0	5	4	6	2	2	4	6	1	1			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr3:194081183C>T	ENST00000347624.3	-	2	675	c.590G>A	c.(589-591)gGc>gAc	p.G197D	LRRC15_ENST00000439944.2_Missense_Mutation_p.G203D|LRRC15_ENST00000428839.1_Missense_Mutation_p.G203D	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	197						integral to membrane				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		CTGGAGGTTGCCCAGGTGCTG	0.572													68	112					0	0	1	0	0	T	194081183	C	T	194081183	3	4	100	1	0	0	0	0	1	0	0	0	9015	739	26	2	1159	2	LRRC15	3	194081183	Missense_Mutation	SNP	C	TCGA-EJ-A46G-01A-31D-A26M-08	37335088	194081183	3941247	21	5276											
ATP10D	57205	broad.mit.edu	37	chr4	47527619	47527619	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccagtaggatagaatgtGaaagcccaaacaatgacctc	15	9	8	9	0	0	3	0	2	0	1	2	4	1	4	3	1	2	1	3	1	6	3			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr4:47527619G>T	ENST00000273859.3	+	5	1005	c.736G>T	c.(736-738)Gaa>Taa	p.E246*	ATP10D_ENST00000504445.1_Nonsense_Mutation_p.E246*	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	246					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						GATAGAATGTGAAAGCCCAAA	0.363													5	23					5.9392e-07	6.97856e-07	1	1	0	T	47527619	G	T	47527619	4	4	100	1	0	0	0	0	0	1	0	0	1117	1291	45	4	750	4	ATP10D	4	47527619	Nonsense_Mutation	SNP	G	TCGA-EJ-A46G-01A-31D-A26M-08		47527619	143626657	22	5277											
NNT	23530	broad.mit.edu	37	chr5	43645506	43645506	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaccgaaaaatattcctcaAggtgccccagtaaaacagaa	18	6	6	11	1	1	1	1	0	0	1	2	2	2	1	4	1	2	1	4	1	7	3			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr5:43645506A>C	ENST00000264663.5	+	10	1559	c.1338A>C	c.(1336-1338)caA>caC	p.Q446H	NNT_ENST00000344920.4_Missense_Mutation_p.Q446H|NNT_ENST00000512996.2_Missense_Mutation_p.Q315H	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	446					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	ATATTCCTCAAGGTGCCCCAG	0.403													4	51					0	0	1	0	0	C	43645506	A	C	43645506	3	2	100	1	0	0	0	0	1	0	0	0	10557	69	3	5	1372	5	NNT	5	43645506	Missense_Mutation	SNP	A	TCGA-EJ-A46G-01A-31D-A26M-08		43645506	137269754	23	5278											
CKMT2	1160	broad.mit.edu	37	chr5	80554973	80554973	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagaacgaggctgggagtTcatgtggaatgagcgcctag	11	7	15	8	2	1	2	1	1	0	1	1	5	1	4	2	3	2	2	2	3	4	2			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr5:80554973T>C	ENST00000424301.2	+	9	1152	c.914T>C	c.(913-915)tTc>tCc	p.F305S	CKMT2_ENST00000254035.4_Missense_Mutation_p.F305S|CTC-281B15.1_ENST00000512287.1_RNA|CTC-281B15.1_ENST00000500148.2_RNA|CTC-281B15.1_ENST00000505295.1_RNA|CTC-281B15.1_ENST00000511495.1_RNA|CTC-281B15.1_ENST00000503483.2_RNA|CTC-281B15.1_ENST00000501927.2_RNA|CTC-281B15.1_ENST00000502041.2_RNA|CKMT2_ENST00000437669.1_Missense_Mutation_p.F305S	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)	305	Phosphagen kinase C-terminal.				creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	GGCTGGGAGTTCATGTGGAAT	0.473													48	59					0	0	1	0	0	C	80554973	T	C	80554973	3	2	100	1	0	0	0	0	1	0	0	0	3474	1783	62	3	940	3	CKMT2	5	80554973	Missense_Mutation	SNP	T	TCGA-EJ-A46G-01A-31D-A26M-08	36909467	80554973	100360287	24	5279											
NUDT12	83594	broad.mit.edu	37	chr5	102888022	102888022	+	Frame_Shift_Del	DEL	T	T	-																															aatcattaaggaggaaggcaTtggccatggttgacaagcaa																										TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr5:102888022delT	ENST00000230792.2	-	6	1270	c.1174delA	c.(1174-1176)tgfs	p.M392fs	NUDT12_ENST00000507423.1_Frame_Shift_Del_p.M374fs	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	392	Nudix hydrolase.					nucleus|peroxisome	metal ion binding|NAD+ diphosphatase activity			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		GAGGAAGGCATTGGCCATGGT	0.423													12	22	---	---	---	---						-	102888022	T	-	102888022	7	5	100	1	0	1	0	1	0	0	0	0	10776	1493	52	0	222	0	NUDT12	5	102888022	Frame_Shift_Del	DEL	T	TCGA-EJ-A46G-01A-31D-A26M-08	22333049	102888022	78027238	25	5280											
MYLIP	29116	broad.mit.edu	37	chr6	16146916	16146916	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcccgtctgcaggtcgcgTgtggagcatgtccagcacgt	5	10	14	12	4	1	0	0	0	1	0	4	1	3	1	2	2	3	3	2	2	0	0			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr6:16146916T>A	ENST00000349606.4	+	6	1233	c.729T>A	c.(727-729)cgT>cgA	p.R243R	MYLIP_ENST00000356840.3_Silent_p.R424R			Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	424	FERM.				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			GCAGGTCGCGTGTGGAGCATG	0.532													3	8					0	0	1	0	0	A	16146916	T	A	16146916	2	1	100	1	0	0	0	0	0	0	0	1	10103	1683	59	5		5	MYLIP	6	16146916	Silent	SNP	T	TCGA-EJ-A46G-01A-31D-A26M-08		16146916	154968151	26	5281											
CFB	629	broad.mit.edu	37	chr6	31911054	31911054	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggggaacatgtcagcaaaCgcctctgaccaggagaggac	12	5	14	10	1	2	2	1	1	1	1	2	5	2	4	2	4	3	1	2	4	2	0	rs138221333	byFrequency	TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr6:31911054C>T	ENST00000556679.1	+	8	1009	c.954C>T	c.(952-954)aaC>aaT	p.N318N	C2_ENST00000469372.1_Silent_p.N225N|CFB_ENST00000456570.1_Silent_p.N318N|CFB_ENST00000477310.1_Silent_p.N242N|C2_ENST00000452323.2_Silent_p.N257N|C2_ENST00000299367.5_Silent_p.N471N|C2_ENST00000442278.2_Silent_p.N339N			P00751	CFAB_HUMAN	complement factor B	486	VWFA.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						TGTCAGCAAACGCCTCTGACC	0.577													23	26					0	0	1	0	0	T	31911054	C	T	31911054	2	4	100	1	0	0	0	0	0	0	0	1	3300	535	19	1		1	CFB	6	31911054	Silent	SNP	C	TCGA-EJ-A46G-01A-31D-A26M-08	15764138	31911054	139204013	27	5282											
GPR110	266977	broad.mit.edu	37	chr6	46977705	46977705	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttggaaacgggtagaatgTtccccagagtcaacgaggcc	11	9	12	9	2	1	2	1	0	0	2	2	4	2	3	3	3	2	2	3	3	4	4			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr6:46977705T>A	ENST00000371253.2	-	11	1681	c.1466A>T	c.(1465-1467)aAc>aTc	p.N489I	GPR110_ENST00000283297.5_Missense_Mutation_p.N292I|GPR110_ENST00000449332.2_5'UTR	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	489					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						GGGTAGAATGTTCCCCAGAGT	0.413													12	17					0	0	1	0	0	A	46977705	T	A	46977705	3	1	100	1	0	0	0	0	1	0	0	0	6667	1725	60	5	1286	5	GPR110	6	46977705	Missense_Mutation	SNP	T	TCGA-EJ-A46G-01A-31D-A26M-08	15066651	46977705	124137362	28	5283											
SESN1	27244	broad.mit.edu	37	chr6	109322526	109322526	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgacgataatgtaggggtaAcggcccatccatttgcagta	11	10	12	8	2	0	1	0	1	0	0	1	2	1	1	2	3	2	4	2	3	4	5			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr6:109322526A>C	ENST00000436639.2	-	3	1256	c.511T>G	c.(511-513)Tta>Gta	p.L171V	SESN1_ENST00000356644.7_Missense_Mutation_p.L112V|SESN1_ENST00000302071.2_Missense_Mutation_p.L46V	NM_014454.2	NP_055269.1	Q9Y6P5	SESN1_HUMAN	sestrin 1	112					cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus	nucleus				cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)		TGTAGGGGTAACGGCCCATCC	0.348													9	22					0	0	1	0	0	C	109322526	A	C	109322526	3	2	100	1	0	0	0	0	1	0	0	0	14178	40	2	5	1176	5	SESN1	6	109322526	Missense_Mutation	SNP	A	TCGA-EJ-A46G-01A-31D-A26M-08	62344821	109322526	61792541	29	5284											
KPNA5	3841	broad.mit.edu	37	chr6	117045527	117045527	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atattgtgactggtgatgatAttcaaacacaggtgagttca	13	13	10	5	0	2	4	2	4	0	0	2	4	2	4	0	2	1	1	0	2	3	5			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr6:117045527A>G	ENST00000368564.1	+	10	1136	c.988A>G	c.(988-990)Att>Gtt	p.I330V	KPNA5_ENST00000356348.1_Missense_Mutation_p.I330V			O15131	IMA5_HUMAN	karyopherin alpha 5 (importin alpha 6)	327	NLS binding site (minor) (By similarity).				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity			breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		TGGTGATGATATTCAAACACA	0.279													12	8					0	0	1	0	0	G	117045527	A	G	117045527	3	3	100	1	0	0	0	0	1	0	0	0	8476	449	16	3	1026	3	KPNA5	6	117045527	Missense_Mutation	SNP	A	TCGA-EJ-A46G-01A-31D-A26M-08	7723001	117045527	54069540	30	5285											
EPB41L2	2037	broad.mit.edu	37	chr6	131184804	131184804	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatcaatatctccatctcCtgtgatcacaatgcgtttct	10	15	5	11	1	5	2	2	2	3	0	7	2	5	2	2	0	1	1	2	0	3	2			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr6:131184804C>T	ENST00000337057.3	-	18	3065	c.2884G>A	c.(2884-2886)Gga>Aga	p.G962R	EPB41L2_ENST00000368128.2_Missense_Mutation_p.G962R|EPB41L2_ENST00000525271.1_Missense_Mutation_p.G630R|EPB41L2_ENST00000531410.1_Missense_Mutation_p.G83R|EPB41L2_ENST00000524581.1_Missense_Mutation_p.G340R|EPB41L2_ENST00000527659.1_Missense_Mutation_p.G768R|EPB41L2_ENST00000527411.1_Missense_Mutation_p.G892R|EPB41L2_ENST00000528282.1_Missense_Mutation_p.G704R|EPB41L2_ENST00000525193.1_Missense_Mutation_p.G663R|EPB41L2_ENST00000445890.2_Missense_Mutation_p.G704R|EPB41L2_ENST00000530757.1_Missense_Mutation_p.G158R|EPB41L2_ENST00000530481.1_Missense_Mutation_p.G809R|EPB41L2_ENST00000392427.3_Missense_Mutation_p.G630R|EPB41L2_ENST00000529208.1_Missense_Mutation_p.G892R	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	962	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TCTCCATCTCCTGTGATCACA	0.363													7	23					0	0	1	0	0	T	131184804	C	T	131184804	3	4	100	1	0	0	0	0	1	0	0	0	5181	690	24	2	141	2	EPB41L2	6	131184804	Missense_Mutation	SNP	C	TCGA-EJ-A46G-01A-31D-A26M-08	14139277	131184804	39930263	31	5286											
SLC39A14	23516	broad.mit.edu	37	chr8	22275306	22275306	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgccaactggatttttgcGctagctggaggaatgttctt	7	15	11	8	1	2	0	0	0	2	0	2	3	2	3	1	3	4	3	1	3	3	5	rs113562598		TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr8:22275306G>A	ENST00000359741.5	+	8	1465	c.1290G>A	c.(1288-1290)gcG>gcA	p.A430A	SLC39A14_ENST00000289952.5_Silent_p.A430A|SLC39A14_ENST00000240095.6_Silent_p.A430A|SLC39A14_ENST00000381237.1_Silent_p.A430A	NM_015359.4	NP_056174.2	Q15043	S39AE_HUMAN	solute carrier family 39 (zinc transporter), member 14	430						endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane	zinc ion transmembrane transporter activity			NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		GGATTTTTGCGCTAGCTGGAG	0.512													3	36					0	0	1	0	0	A	22275306	G	A	22275306	2	1	100	1	0	0	0	0	0	0	0	1	14672	1074	38	1		1	SLC39A14	8	22275306	Silent	SNP	G	TCGA-EJ-A46G-01A-31D-A26M-08		22275306	124088716	32	5287											
CHRNA6	8973	broad.mit.edu	37	chr8	42611140	42611140	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttgtggcaagctcatttGatttgtgacaatggaagcat	10	14	11	6	0	1	2	1	2	0	0	1	3	1	3	0	2	3	4	0	2	3	3			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr8:42611140G>T	ENST00000276410.2	-	5	1557	c.1202C>A	c.(1201-1203)tCa>tAa	p.S401*	CHRNA6_ENST00000534622.1_Nonsense_Mutation_p.S386*	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	401						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)			AAGCTCATTTGATTTGTGACA	0.488													21	26					3.5997e-14	4.39444e-14	1	1	0	T	42611140	G	T	42611140	4	4	100	1	0	0	0	0	0	1	0	0	3409	1294	45	4	290	4	CHRNA6	8	42611140	Nonsense_Mutation	SNP	G	TCGA-EJ-A46G-01A-31D-A26M-08	20335834	42611140	103752882	33	5288											
PRKDC	5591	broad.mit.edu	37	chr8	48691160	48691160	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcagagcgtgagagctggCgaagtgggagcggagcgcca	10	5	18	8	4	1	2	1	1	0	2	1	6	1	4	1	3	4	1	1	3	2	1			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr8:48691160C>T	ENST00000314191.2	-	84	11766	c.11710G>A	c.(11710-11712)Gcc>Acc	p.A3904T	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.A3873T	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3905	PI3K/PI4K.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TGAGAGCTGGCGAAGTGGGAG	0.572								Non-homologous end-joining					7	11					0	0	1	0	0	T	48691160	C	T	48691160	3	4	100	1	0	0	0	0	1	0	0	0	12573	768	27	1	689	1	PRKDC	8	48691160	Missense_Mutation	SNP	C	TCGA-EJ-A46G-01A-31D-A26M-08	6080020	48691160	97672862	34	5289											
CLVS1	157807	broad.mit.edu	37	chr8	62212502	62212502	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagactatagagaaagctcGcctggaactgaatgaaaacc	17	6	10	8	1	0	4	0	2	0	2	1	7	0	5	2	1	3	1	2	1	7	2			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr8:62212502G>A	ENST00000519846.1	+	3	588	c.116G>A	c.(115-117)cGc>cAc	p.R39H	CLVS1_ENST00000325897.4_Missense_Mutation_p.R39H|CLVS1_ENST00000518592.1_Intron			Q8IUQ0	CLVS1_HUMAN	clavesin 1	39					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						GAGAAAGCTCGCCTGGAACTG	0.433													12	31					0	0	1	0	0	A	62212502	G	A	62212502	3	1	100	1	0	0	0	0	1	0	0	0	3594	1087	38	1	118	1	CLVS1	8	62212502	Missense_Mutation	SNP	G	TCGA-EJ-A46G-01A-31D-A26M-08	13521342	62212502	84151520	35	5290											
ZFHX4	79776	broad.mit.edu	37	chr8	77617577	77617577	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctagtttagtagtgaacacCccaattacctctgtctccct	9	14	5	13	0	3	1	0	1	3	0	4	1	3	1	4	0	2	2	4	0	6	5			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr8:77617577C>A	ENST00000521891.2	+	2	1702	c.1254C>A	c.(1252-1254)acC>acA	p.T418T	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Silent_p.T418T|ZFHX4_ENST00000455469.2_Silent_p.T418T|ZFHX4_ENST00000518282.1_Silent_p.T418T	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	418						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TAGTGAACACCCCAATTACCT	0.522										HNSCC(33;0.089)			9	20					0.361761	0.365651	1	1	0	A	77617577	C	A	77617577	2	1	100	1	0	0	0	0	0	0	0	1	17693	610	22	4		4	ZFHX4	8	77617577	Silent	SNP	C	TCGA-EJ-A46G-01A-31D-A26M-08	15405075	77617577	68746445	36	5291											
ADCY8	114	broad.mit.edu	37	chr8	132051761	132051761	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgaagagcgtgaagagcacGtagcctatgccgtcgcccag	10	5	14	12	5	0	3	0	1	0	2	1	4	0	3	3	0	4	2	3	0	4	2			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr8:132051761G>A	ENST00000286355.5	-	1	2911	c.819C>T	c.(817-819)taC>taT	p.Y273Y	ADCY8_ENST00000377928.3_Silent_p.Y273Y	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	273					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TGAAGAGCACGTAGCCTATGC	0.672										HNSCC(32;0.087)			13	45					0	0	1	0	0	A	132051761	G	A	132051761	2	1	100	1	0	0	0	0	0	0	0	1	299	1140	40	1		1	ADCY8	8	132051761	Silent	SNP	G	TCGA-EJ-A46G-01A-31D-A26M-08	54434184	132051761	14312261	37	5292											
OR1K1	0	broad.mit.edu	37	chr9	125562551	125562551	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggactcattgtggctgccatCcaggccagtccagcccttca	7	9	10	15	0	2	0	2	0	0	0	4	1	4	1	5	3	2	1	5	3	0	2			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr9:125562551C>G	ENST00000277309.2	+	1	182	c.150C>G	c.(148-150)atC>atG	p.I50M		NM_080859.1	NP_543135.1	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K, member 1	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						TGGCTGCCATCCAGGCCAGTC	0.572													7	44					0	0	1	0	0	G	125562551	C	G	125562551	3	3	100	1	0	0	0	0	1	0	0	0	11010	845	30	4	152	4	OR1K1	9	125562551	Missense_Mutation	SNP	C	TCGA-EJ-A46G-01A-31D-A26M-08		125562551	15650880	38	5293											
OR52M1	119772	broad.mit.edu	37	chr11	4566999	4566999	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagttgccttgacatgtggCgacagcagggtcaataatgt	10	11	13	7	1	1	1	1	1	0	0	1	2	1	1	1	2	2	3	1	2	3	4			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr11:4566999C>T	ENST00000360213.1	+	1	579	c.579C>T	c.(577-579)ggC>ggT	p.G193G		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGACATGTGGCGACAGCAGGG	0.512													40	63					0	0	1	0	0	T	4566999	C	T	4566999	2	4	100	1	0	0	0	0	0	0	0	1	11174	755	27	1		1	OR52M1	11	4566999	Silent	SNP	C	TCGA-EJ-A46G-01A-31D-A26M-08		4566999	130439517	39	5294											
MMP26	56547	broad.mit.edu	37	chr11	5009509	5009509	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgccgttccagtgccccctgCtgcagaccataaaggatggg	8	7	12	14	2	0	1	0	0	0	1	1	2	1	2	5	2	3	3	5	2	2	2			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr11:5009509C>A	ENST00000380390.1	+	2	284	c.68C>A	c.(67-69)gCt>gAt	p.A23D	MMP26_ENST00000300762.1_Missense_Mutation_p.A23D|MMP26_ENST00000477339.1_3'UTR			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	23					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		GTGCCCCCTGCTGCAGACCAT	0.488													34	45					5.43694e-19	6.72463e-19	1	1	0	A	5009509	C	A	5009509	3	1	100	1	0	0	0	0	1	0	0	0	9712	797	28	4	70	4	MMP26	11	5009509	Missense_Mutation	SNP	C	TCGA-EJ-A46G-01A-31D-A26M-08	442510	5009509	129997007	40	5295											
OR52A5	390054	broad.mit.edu	37	chr11	5153061	5153061	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggatatgaatatatggtggtAtgtgtgaaccaaacctgtgt	12	13	12	4	0	0	2	0	2	0	0	0	3	0	3	2	3	2	1	2	3	7	4			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr11:5153061A>G	ENST00000307388.1	-	1	811	c.812T>C	c.(811-813)aTa>aCa	p.I271T		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		ATATGGTGGTATGTGTGAACC	0.408													10	36					0	0	1	0	0	G	5153061	A	G	5153061	3	3	100	1	0	0	0	0	1	0	0	0	11158	449	16	3	141	3	OR52A5	11	5153061	Missense_Mutation	SNP	A	TCGA-EJ-A46G-01A-31D-A26M-08	143552	5153061	129853455	41	5296											
OR4C13	283092	broad.mit.edu	37	chr11	49974168	49974168	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctttttcctggcctatctctCctttattgatgcctgctatt	4	20	5	12	0	1	1	0	1	1	0	4	1	3	1	4	1	2	1	4	1	3	8			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr11:49974168C>T	ENST00000555099.1	+	1	226	c.194C>T	c.(193-195)tCc>tTc	p.S65F		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						GCCTATCTCTCCTTTATTGAT	0.428													15	126					0	0	1	0	0	T	49974168	C	T	49974168	3	4	100	1	0	0	0	0	1	0	0	0	11095	855	30	2	196	2	OR4C13	11	49974168	Missense_Mutation	SNP	C	TCGA-EJ-A46G-01A-31D-A26M-08	44821107	49974168	85032348	42	5297											
SPTBN2	6712	broad.mit.edu	37	chr11	66466498	66466498	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggaaatgctgctgctcccGgttgtcccgaagacggccca	8	7	12	14	3	0	1	0	0	0	1	2	3	2	2	3	3	3	4	3	3	2	1			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr11:66466498G>A	ENST00000533211.1	-	19	4163	c.3832C>T	c.(3832-3834)Cgg>Tgg	p.R1278W	SPTBN2_ENST00000529997.1_Missense_Mutation_p.R1278W|SPTBN2_ENST00000309996.2_Missense_Mutation_p.R1278W			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1278					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TGCTGCTCCCGGTTGTCCCGA	0.537													25	31					0	0	1	0	0	A	66466498	G	A	66466498	3	1	100	1	0	0	0	0	1	0	0	0	15176	1115	39	1	3420	1	SPTBN2	11	66466498	Missense_Mutation	SNP	G	TCGA-EJ-A46G-01A-31D-A26M-08	16492330	66466498	68540018	43	5298											
SSH3	54961	broad.mit.edu	37	chr11	67074410	67074410	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggatgagacggtcctcctGggcgtggatttccctgacag	7	9	14	11	2	0	2	0	2	0	1	3	5	3	4	3	4	0	0	3	4	0	1			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr11:67074410G>T	ENST00000308127.4	+	4	619	c.441G>T	c.(439-441)ctG>ctT	p.L147L	SSH3_ENST00000376757.5_Silent_p.L147L|SSH3_ENST00000308298.7_Silent_p.L147L|SSH3_ENST00000532181.1_3'UTR	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	147					regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CGGTCCTCCTGGGCGTGGATT	0.632													20	67					8.34094e-07	9.6796e-07	1	1	0	T	67074410	G	T	67074410	2	4	100	1	0	0	0	0	0	0	0	1	15242	1335	47	4		4	SSH3	11	67074410	Silent	SNP	G	TCGA-EJ-A46G-01A-31D-A26M-08	607912	67074410	67932106	44	5299											
CLEC12B	387837	broad.mit.edu	37	chr12	10165411	10165411	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctccatctcccatttggcGtcatgctgctctgggtctgg	4	13	11	13	1	4	0	1	0	3	0	6	0	5	0	2	3	3	3	2	3	0	1			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr12:10165411G>A	ENST00000396502.1	+	2	247	c.119G>A	c.(118-120)cGt>cAt	p.R40H	CLEC1B_ENST00000428126.2_Intron|CLEC12B_ENST00000338896.5_Missense_Mutation_p.R40H	NM_205852.2	NP_995324.2	Q2HXU8	CL12B_HUMAN	C-type lectin domain family 12, member B	40						integral to membrane|plasma membrane	receptor activity|sugar binding			central_nervous_system(2)|large_intestine(2)|lung(5)	9						CCCATTTGGCGTCATGCTGCT	0.458													14	32					0	0	1	0	0	A	10165411	G	A	10165411	3	1	100	1	0	0	0	0	1	0	0	0	3521	1145	40	1	125	1	CLEC12B	12	10165411	Missense_Mutation	SNP	G	TCGA-EJ-A46G-01A-31D-A26M-08		10165411	123686484	45	5300											
KRT7	3855	broad.mit.edu	37	chr12	52629059	52629059	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggcccagattgctggccttCggggtcagcttgaggcactg	6	9	15	11	1	1	2	1	1	0	1	2	2	1	2	2	5	2	3	2	5	0	3			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr12:52629059C>T	ENST00000331817.5	+	2	628	c.445C>T	c.(445-447)Cgg>Tgg	p.R149W		NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7	149	Coil 1B.|Rod.				cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)		TGCTGGCCTTCGGGGTCAGCT	0.612													5	69					0	0	1	0	0	T	52629059	C	T	52629059	3	4	100	1	0	0	0	0	1	0	0	0	8526	875	31	1	451	1	KRT7	12	52629059	Missense_Mutation	SNP	C	TCGA-EJ-A46G-01A-31D-A26M-08	42463648	52629059	81222836	46	5301											
KRT79	338785	broad.mit.edu	37	chr12	53216897	53216897	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtagtcacgcagcagccGtgtcaggtcctccttggcct	5	10	12	14	2	2	0	2	0	0	0	4	0	4	0	4	3	2	3	4	3	1	2			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr12:53216897G>A	ENST00000330553.5	-	7	1304	c.1270C>T	c.(1270-1272)Cgg>Tgg	p.R424W		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	424	Coil 2.|Rod.					keratin filament	structural molecule activity	p.R424W(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CGCAGCAGCCGTGTCAGGTCC	0.612													16	81					0	0	1	0	0	A	53216897	G	A	53216897	3	1	100	1	0	0	0	0	1	0	0	0	8535	1144	40	1	349	1	KRT79	12	53216897	Missense_Mutation	SNP	G	TCGA-EJ-A46G-01A-31D-A26M-08	587838	53216897	80634998	47	5302											
LRIG3	121227	broad.mit.edu	37	chr12	59281622	59281622	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaatcagcaatgtagctgActctgttgttcccaatgtgc	10	12	8	11	0	2	1	1	1	1	0	3	1	3	1	1	0	3	5	1	0	4	3			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr12:59281622A>C	ENST00000320743.3	-	8	1326	c.1040T>G	c.(1039-1041)gTc>gGc	p.V347G	LRIG3_ENST00000379141.4_Missense_Mutation_p.V287G	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	347						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			AATGTAGCTGACTCTGTTGTT	0.413			T	ROS1	NSCLC								18	32					0	0	1	0	0	C	59281622	A	C	59281622	3	2	100	1	0	0	0	0	1	0	0	0	8991	275	10	5	2367	5	LRIG3	12	59281622	Missense_Mutation	SNP	A	TCGA-EJ-A46G-01A-31D-A26M-08	6064725	59281622	74570273	48	5303											
FREM2	341640	broad.mit.edu	37	chr13	39451252	39451252	+	Splice_Site	SNP	A	A	G																															gaacttttacctttggttttAggtcagtgatccagtggctg																										TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr13:39451252A>G	ENST00000280481.7	+	21	8760		c.e21-1			NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2						cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CTTTGGTTTTAGGTCAGTGAT	0.433													6	71					0	0	1	0	0	G	39451252	A	G	39451252	5	3	100	1	0	0	0	0	0	0	1	0	6080	434	15	3	8625	3	FREM2	13	39451252	Splice_Site	SNP	A	TCGA-EJ-A46G-01A-31D-A26M-08		39451252	75718626	49	5304	26	2									
FREM2	341640	broad.mit.edu	37	chr13	39451253	39451253	+	Splice_Site	SNP	G	G	T																															aacttttacctttggttttaGgtcagtgatccagtggctgc																										TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr13:39451253G>T	ENST00000280481.7	+	21	8760		c.e21-1			NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2						cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TTTGGTTTTAGGTCAGTGATC	0.438													6	71					0.217242	0.221965	1	1	0	T	39451253	G	T	39451253	5	4	100	1	0	0	0	0	0	0	1	0	6080	1014	35	4	8626	4	FREM2	13	39451253	Splice_Site	SNP	G	TCGA-EJ-A46G-01A-31D-A26M-08	1	39451253	75718625	50	5305	26	2									
PLEKHG3	26030	broad.mit.edu	37	chr14	65208858	65208858	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcctctcccactgaggggCgcagcccggcccacctggcc	4	5	12	20	2	1	1	0	1	1	0	3	1	2	1	6	4	1	2	6	4	0	0			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr14:65208858C>T	ENST00000247226.7	+	14	2763	c.2455C>T	c.(2455-2457)Cgc>Tgc	p.R819C	PLEKHG3_ENST00000471182.2_Missense_Mutation_p.R408C|PLEKHG3_ENST00000394691.1_Missense_Mutation_p.R875C|PLEKHG3_ENST00000484731.2_Missense_Mutation_p.R380C|PLEKHG3_ENST00000492928.1_Intron	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	875					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		CACTGAGGGGCGCAGCCCGGC	0.667													12	16					0	0	1	0	0	T	65208858	C	T	65208858	3	4	100	1	0	0	0	0	1	0	0	0	12118	768	27	1	2505	1	PLEKHG3	14	65208858	Missense_Mutation	SNP	C	TCGA-EJ-A46G-01A-31D-A26M-08		65208858	42140682	51	5306											
ATP10A	57194	broad.mit.edu	37	chr15	26026298	26026298	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgtccgcagggaagatttcGttgcagcgaagacgcacaaa	13	7	12	9	4	0	2	0	0	0	2	2	4	1	3	1	1	2	4	1	1	3	2	rs145190957	byFrequency	TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr15:26026298G>A	ENST00000356865.6	-	2	633	c.522C>T	c.(520-522)aaC>aaT	p.N174N		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	174					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GGAAGATTTCGTTGCAGCGAA	0.498													4	41					0	0	1	0	0	A	26026298	G	A	26026298	2	1	100	1	0	0	0	0	0	0	0	1	1115	1136	40	1		1	ATP10A	15	26026298	Silent	SNP	G	TCGA-EJ-A46G-01A-31D-A26M-08		26026298	76505094	52	5307											
ZSCAN10	84891	broad.mit.edu	37	chr16	3142301	3142301	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacggggacaactcttgccaGcattacaactaaaatcctgt	13	9	7	12	1	1	0	0	0	1	0	2	1	2	1	2	2	5	1	2	2	5	3			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr16:3142301G>A	ENST00000252463.2	-	2	335	c.248C>T	c.(247-249)gCt>gTt	p.A83V	ZSCAN10_ENST00000572548.1_Intron|ZSCAN10_ENST00000538082.2_Intron|ZSCAN10_ENST00000575108.1_5'UTR	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	83					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						ACTCTTGCCAGCATTACAACT	0.547													15	48					0	0	1	0	0	A	3142301	G	A	3142301	3	1	100	1	0	0	0	0	1	0	0	0	18269	971	34	2	1945	2	ZSCAN10	16	3142301	Missense_Mutation	SNP	G	TCGA-EJ-A46G-01A-31D-A26M-08		3142301	87212452	53	5308											
ZNF668	79759	broad.mit.edu	37	chr16	31072622	31072622	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcactgggtgcaggggaaggGccggagctccgggtgtgagc	6	5	21	9	2	0	1	0	1	0	0	1	3	1	3	2	6	3	3	2	6	1	0			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr16:31072622G>T	ENST00000538906.1	-	3	2411	c.1627C>A	c.(1627-1629)Ccc>Acc	p.P543T	ZNF668_ENST00000394983.2_Missense_Mutation_p.P543T|ZNF668_ENST00000535577.1_Missense_Mutation_p.P543T|ZNF668_ENST00000300849.4_Missense_Mutation_p.P543T|ZNF668_ENST00000539836.3_Missense_Mutation_p.P566T|ZNF668_ENST00000426488.2_Missense_Mutation_p.P566T	NM_001172668.1	NP_001166139.1	Q96K58	ZN668_HUMAN	zinc finger protein 668	543					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						CAGGGGAAGGGCCGGAGCTCC	0.657													44	39					6.07928e-31	7.72232e-31	1	1	0	T	31072622	G	T	31072622	3	4	100	1	0	0	0	0	1	0	0	0	18132	1203	42	4	236	4	ZNF668	16	31072622	Missense_Mutation	SNP	G	TCGA-EJ-A46G-01A-31D-A26M-08	27930321	31072622	59282131	54	5309											
AMFR	267	broad.mit.edu	37	chr16	56398015	56398015	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtccagtggcacacgctcGgtctggacacggggcaggaa	9	5	16	11	3	1	0	0	0	1	0	3	2	2	2	1	7	0	3	1	7	1	0			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr16:56398015G>A	ENST00000290649.5	-	13	1812	c.1602C>T	c.(1600-1602)acC>acT	p.T534T		NM_001144.5	NP_001135.3	Q9UKV5	AMFR2_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	534					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						GCACACGCTCGGTCTGGACAC	0.637													9	13					0	0	1	0	0	A	56398015	G	A	56398015	2	1	100	1	0	0	0	0	0	0	0	1	567	1103	39	1		1	AMFR	16	56398015	Silent	SNP	G	TCGA-EJ-A46G-01A-31D-A26M-08	25325393	56398015	33956738	55	5310											
TMEM107	84314	broad.mit.edu	37	chr17	8079029	8079029	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggtggctgaagggagtcctGatagaagtgggtcgtgtggg	8	9	20	4	1	0	3	0	2	0	1	2	4	1	4	1	5	0	1	1	5	3	1	rs8064449	by1000genomes	TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr17:8079029G>C	ENST00000532998.1	-	3	388	c.302C>G	c.(301-303)tCa>tGa	p.S101*	TMEM107_ENST00000316425.5_Intron|TMEM107_ENST00000437139.2_Intron|TMEM107_ENST00000431792.2_Intron|TMEM107_ENST00000449985.2_Intron|TMEM107_ENST00000533070.1_Intron			Q6UX40	TM107_HUMAN	transmembrane protein 107	0						integral to membrane				large_intestine(1)|lung(4)|ovary(1)	6						AGGGAGTCCTGATAGAAGTGG	0.512													3	36					0	0	1	0	0	C	8079029	G	C	8079029	4	2	100	1	0	0	0	0	0	1	0	0	16083	1305	45	4		4	TMEM107	17	8079029	Nonsense_Mutation	SNP	G	TCGA-EJ-A46G-01A-31D-A26M-08		8079029	73116181	56	5311											
CDK12	51755	broad.mit.edu	37	chr17	37619348	37619349	+	Frame_Shift_Ins	INS	-	-	T																															tttcctgagcaagcggtctcINStgagtcggagtccactcccc																										TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr17:37619348_37619349insT	ENST00000447079.4	+	1	1057_1058	c.1024_1025insT	c.(1024-1026)gagfs	p.E342fs	CDK12_ENST00000430627.2_Frame_Shift_Ins_p.E342fs	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	342					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						CAAGCGGTCTCTGAGTCGGAGT	0.554			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)			14	60	---	---	---	---						T	37619349	-	T	37619348	7	5	100	1	0	1	1	0	0	0	0	0	3150	912	32	0	1026	0	CDK12	17	37619348	Frame_Shift_Ins	INS	-	TCGA-EJ-A46G-01A-31D-A26M-08	29540319	37619348	43575862	57	5312											
CDK12	51755	broad.mit.edu	37	chr17	37657655	37657655	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acaaaaagaatttcctgcatCgggatattaagtgttctaac	15	12	7	7	1	1	1	0	0	1	1	3	2	2	2	1	1	2	2	1	1	6	5			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr17:37657655C>T	ENST00000447079.4	+	6	2605	c.2572C>T	c.(2572-2574)Cgg>Tgg	p.R858W	CDK12_ENST00000430627.2_Missense_Mutation_p.R858W	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	858	Protein kinase.				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						TTTCCTGCATCGGGATATTAA	0.363			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)			19	17					0	0	1	0	0	T	37657655	C	T	37657655	3	4	100	1	0	0	0	0	1	0	0	0	3150	875	31	1	2594	1	CDK12	17	37657655	Missense_Mutation	SNP	C	TCGA-EJ-A46G-01A-31D-A26M-08	38307	37657655	43537555	58	5313											
KRT33A	3883	broad.mit.edu	37	chr17	39506782	39506782	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gttctccagctccgcgttgtCccgctccagctgacgcacct	4	10	9	18	4	1	1	0	1	1	0	5	1	4	1	5	0	2	6	5	0	0	2	rs148752041	byFrequency	TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr17:39506782C>G	ENST00000007735.3	-	1	282	c.238G>C	c.(238-240)Gac>Cac	p.D80H		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	80	Coil 1A.|Rod.					intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				TCCGCGTTGTCCCGCTCCAGC	0.597													4	68					0	0	1	0	0	G	39506782	C	G	39506782	3	3	100	1	0	0	0	0	1	0	0	0	8512	855	30	4	1004	4	KRT33A	17	39506782	Missense_Mutation	SNP	C	TCGA-EJ-A46G-01A-31D-A26M-08	1849127	39506782	41688428	59	5314											
KPNB1	3837	broad.mit.edu	37	chr17	45754426	45754426	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttagtgggagacttgtgccGtgccctgcaatccaacatca	9	10	10	12	1	1	1	1	0	0	1	2	2	2	1	3	1	4	1	3	1	3	2			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr17:45754426G>T	ENST00000290158.4	+	17	2443	c.2036G>T	c.(2035-2037)cGt>cTt	p.R679L	KPNB1_ENST00000540627.1_Missense_Mutation_p.R534L|KPNB1_ENST00000537679.1_Missense_Mutation_p.R463L|KPNB1_ENST00000535458.2_Missense_Mutation_p.R534L	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	679					DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding			breast(1)|ovary(1)|pancreas(1)|skin(1)	4						GACTTGTGCCGTGCCCTGCAA	0.468													4	57					0.150653	0.157349	1	1	0	T	45754426	G	T	45754426	3	4	100	1	0	0	0	0	1	0	0	0	8478	1145	40	4	2102	4	KPNB1	17	45754426	Missense_Mutation	SNP	G	TCGA-EJ-A46G-01A-31D-A26M-08	6247644	45754426	35440784	60	5315											
TMEM92	162461	broad.mit.edu	37	chr17	48356274	48356274	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacagcccagtggattgcCgggggcccctggaactgccc	7	5	14	15	1	0	1	0	0	0	1	0	3	0	3	5	4	4	0	5	4	1	1	rs143844371		TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr17:48356274C>T	ENST00000300433.3	+	5	393	c.283C>T	c.(283-285)Cgg>Tgg	p.R95W	TMEM92_ENST00000511882.1_3'UTR|TMEM92_ENST00000507382.1_Missense_Mutation_p.R95W	NM_001168215.1	NP_001161687.1	Q6UXU6	TMM92_HUMAN	transmembrane protein 92	95	Pro-rich.					integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	7						AGTGGATTGCCGGGGGCCCCT	0.617													18	27					0	0	1	0	0	T	48356274	C	T	48356274	3	4	100	1	0	0	0	0	1	0	0	0	16281	643	23	1	297	1	TMEM92	17	48356274	Missense_Mutation	SNP	C	TCGA-EJ-A46G-01A-31D-A26M-08	2601848	48356274	32838936	61	5316											
MGAT5B	146664	broad.mit.edu	37	chr17	74922812	74922812	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcagttcatgaccatgtttCgtgagtgccccacagggcag	9	9	12	11	1	1	2	1	2	0	0	2	2	1	2	3	1	2	4	3	1	0	2			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr17:74922812C>T	ENST00000569840.2	+	10	1865	c.1291_splice	c.e10+1	p.P431_splice	MGAT5B_ENST00000301618.4_Splice_Site_p.P431_splice|MGAT5B_ENST00000428789.2_Splice_Site_p.P442_splice	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	431						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GACCATGTTTCGTGAGTGCCC	0.622													56	41					0	0	1	0	0	T	74922812	C	T	74922812	5	4	100	1	0	0	0	0	0	0	1	0	9599	898	31	1	1430	1	MGAT5B	17	74922812	Splice_Site	SNP	C	TCGA-EJ-A46G-01A-31D-A26M-08	26566538	74922812	6272398	62	5317											
B4GALT6	9331	broad.mit.edu	37	chr18	29218612	29218612	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaagtattctcacctgttCaatgacataaaacgcaaatt	17	11	5	8	1	2	1	2	1	1	0	3	2	2	1	1	0	1	3	1	0	7	5			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr18:29218612C>A	ENST00000306851.5	-	5	879	c.583G>T	c.(583-585)Gaa>Taa	p.E195*	B4GALT6_ENST00000383131.3_Intron|B4GALT6_ENST00000237019.7_Nonsense_Mutation_p.E156*	NM_004775.3	NP_004766.2	Q9UBX8	B4GT6_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6	195					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(6)|pancreas(1)	20			OV - Ovarian serous cystadenocarcinoma(10;0.00791)			CTCACCTGTTCAATGACATAA	0.348													18	43					2.4624e-09	2.9675e-09	1	1	0	A	29218612	C	A	29218612	4	1	100	1	0	0	0	0	0	1	0	0	1273	835	29	4	585	4	B4GALT6	18	29218612	Nonsense_Mutation	SNP	C	TCGA-EJ-A46G-01A-31D-A26M-08		29218612	48858636	63	5318											
CCDC94	55702	broad.mit.edu	37	chr19	4267640	4267640	+	Missense_Mutation	SNP	A	A	G																															ggccccaaagcccaagaggaAggtggaggtctgggagcaga																										TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr19:4267640A>G	ENST00000262962.7	+	7	796	c.728A>G	c.(727-729)aAg>aGg	p.K243R		NM_018074.4	NP_060544.2	Q9BW85	CCD94_HUMAN	coiled-coil domain containing 94	243										NS(1)|endometrium(1)|lung(2)|ovary(1)|stomach(2)	7				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0348)|STAD - Stomach adenocarcinoma(1328;0.183)		CCCAAGAGGAAGGTGGAGGTC	0.682											OREG0025164	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	36					0	0	1	0	0	G	4267640	A	G	4267640	3	3	100	1	0	0	0	0	1	0	0	0	2893	72	3	3	754	3	CCDC94	19	4267640	Missense_Mutation	SNP	A	TCGA-EJ-A46G-01A-31D-A26M-08		4267640	54861343	64	5319	27	2									
CCDC94	55702	broad.mit.edu	37	chr19	4267641	4267641	+	Missense_Mutation	SNP	G	G	T																															gccccaaagcccaagaggaaGgtggaggtctgggagcagag																										TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr19:4267641G>T	ENST00000262962.7	+	7	797	c.729G>T	c.(727-729)aaG>aaT	p.K243N		NM_018074.4	NP_060544.2	Q9BW85	CCD94_HUMAN	coiled-coil domain containing 94	243										NS(1)|endometrium(1)|lung(2)|ovary(1)|stomach(2)	7				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0348)|STAD - Stomach adenocarcinoma(1328;0.183)		CCAAGAGGAAGGTGGAGGTCT	0.682											OREG0025164	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	36					0.000602214	0.000658234	1	1	0	T	4267641	G	T	4267641	3	4	100	1	0	0	0	0	1	0	0	0	2893	991	35	4	755	4	CCDC94	19	4267641	Missense_Mutation	SNP	G	TCGA-EJ-A46G-01A-31D-A26M-08	1	4267641	54861342	65	5320	27	2									
KEAP1	9817	broad.mit.edu	37	chr19	10602517	10602517	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacctgcaggtccgccaacCggagccaggtgccgtcactg	7	5	13	16	3	1	0	1	0	0	0	2	1	2	1	6	3	4	2	6	3	1	0			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr19:10602517C>A	ENST00000171111.5	-	3	1608	c.1061G>T	c.(1060-1062)cGg>cTg	p.R354L	KEAP1_ENST00000393623.2_Missense_Mutation_p.R354L	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	354					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			GTCCGCCAACCGGAGCCAGGT	0.706													3	9					0.115264	0.12174	1	1	0	A	10602517	C	A	10602517	3	1	100	1	0	0	0	0	1	0	0	0	8184	652	23	4	829	4	KEAP1	19	10602517	Missense_Mutation	SNP	C	TCGA-EJ-A46G-01A-31D-A26M-08	6334876	10602517	48526466	66	5321											
TMEM205	374882	broad.mit.edu	37	chr19	11453691	11453691	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacctccccacccaggcctcGctccttctccacggtttgca	5	10	6	20	2	1	0	0	0	1	0	5	0	3	0	7	2	2	3	7	2	1	3			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr19:11453691G>T	ENST00000354882.5	-	3	796	c.370C>A	c.(370-372)Cga>Aga	p.R124R	TMEM205_ENST00000586590.1_Silent_p.R124R|TMEM205_ENST00000588560.1_Silent_p.R124R|TMEM205_ENST00000589555.1_Silent_p.R124R|TMEM205_ENST00000587948.1_Silent_p.R124R|TMEM205_ENST00000586218.1_Silent_p.R63R|TMEM205_ENST00000447337.1_Silent_p.R124R|RAB3D_ENST00000589655.1_Intron|TMEM205_ENST00000593256.2_Silent_p.R124R|TMEM205_ENST00000586956.1_Silent_p.R124R			Q6UW68	TM205_HUMAN	transmembrane protein 205	124						integral to membrane				endometrium(1)|lung(1)	2						CCCAGGCCTCGCTCCTTCTCC	0.647													22	31					7.41877e-09	8.8274e-09	1	1	0	T	11453691	G	T	11453691	2	4	100	1	0	0	0	0	0	0	0	1	16190	1095	38	4		4	TMEM205	19	11453691	Silent	SNP	G	TCGA-EJ-A46G-01A-31D-A26M-08	851174	11453691	47675292	67	5322											
ZNF223	7766	broad.mit.edu	37	chr19	44564693	44564693	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcccagaggaagctgtatcGagatgtgatgctggagaact	11	9	14	7	1	0	4	0	1	0	3	1	7	0	5	1	2	4	3	1	2	3	1			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr19:44564693G>A	ENST00000591793.1	+	5	514	c.431G>A	c.(430-432)cGa>cAa	p.R144Q	ZNF223_ENST00000588518.1_Intron|ZNF223_ENST00000585552.1_Missense_Mutation_p.R34Q|ZNF223_ENST00000434772.3_Missense_Mutation_p.R34Q			Q9UK11	ZN223_HUMAN	zinc finger protein 223	34					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				AAGCTGTATCGAGATGTGATG	0.532													45	109					0	0	1	0	0	A	44564693	G	A	44564693	3	1	100	1	0	0	0	0	1	0	0	0	17835	1058	37	1	107	1	ZNF223	19	44564693	Missense_Mutation	SNP	G	TCGA-EJ-A46G-01A-31D-A26M-08	33111002	44564693	14564290	68	5323											
DIDO1	11083	broad.mit.edu	37	chr20	61525242	61525242	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggccggacactgtgacggtGgtgaccaccccgctcccaca	7	5	12	17	4	0	2	0	2	0	0	1	3	1	3	5	4	0	1	5	4	0	0			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr20:61525242G>A	ENST00000266070.4	-	12	3202	c.2877C>T	c.(2875-2877)acC>acT	p.T959T	DIDO1_ENST00000395335.2_Silent_p.T959T|DIDO1_ENST00000395340.1_Silent_p.T959T|DIDO1_ENST00000395343.1_Silent_p.T959T	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	959					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CTGTGACGGTGGTGACCACCC	0.682													21	31					0	0	1	0	0	A	61525242	G	A	61525242	2	1	100	1	0	0	0	0	0	0	0	1	4550	1335	47	2		2	DIDO1	20	61525242	Silent	SNP	G	TCGA-EJ-A46G-01A-31D-A26M-08		61525242	1500278	69	5324											
SF3A1	10291	broad.mit.edu	37	chr22	30737773	30737773	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atcctcctcatcagactcgaCctccatctcaacttcctcac	9	11	2	19	1	4	1	4	0	1	1	10	2	8	1	5	0	1	0	5	0	1	1			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chr22:30737773C>A	ENST00000439242.1	-	7	915	c.784G>T	c.(784-786)Gtc>Ttc	p.V262F	SF3A1_ENST00000215793.7_Missense_Mutation_p.V327F	NM_001005409.1	NP_001005409.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	327	Poly-Glu.				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						TCAGACTCGACCTCCATCTCA	0.562													5	84					0.184627	0.190714	1	1	0	A	30737773	C	A	30737773	3	1	100	1	0	0	0	0	1	0	0	0	14200	507	18	4	1442	4	SF3A1	22	30737773	Missense_Mutation	SNP	C	TCGA-EJ-A46G-01A-31D-A26M-08		30737773	20566793	70	5325											
SPANXN1	494118	broad.mit.edu	37	chrX	144337212	144337212	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcaggagacaccaaacaggGacttagcccccgaaccgagt	13	4	11	13	2	0	1	0	0	0	1	0	5	0	2	4	2	4	1	4	2	3	1			TCGA-EJ-A46G-01A-31D-A26M-08	TCGA-EJ-A46G-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8bc5e0ab-5177-49f7-8b17-e7782996202d	4f11c4f9-f9a5-424a-b0cb-8bf2f444e04a	g.chrX:144337212G>T	ENST00000370493.3	+	2	856	c.97G>T	c.(97-99)Gac>Tac	p.D33Y		NM_001009614.2	NP_001009614.1	Q5VSR9	SPXN1_HUMAN	SPANX family, member N1	33										endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					ACCAAACAGGGACTTAGCCCC	0.413													5	26					0.014758	0.0157642	1	1	0	T	144337212	G	T	144337212	3	4	100	1	0	0	0	0	1	0	0	0	15046	1174	41	4	103	4	SPANXN1	23	144337212	Missense_Mutation	SNP	G	TCGA-EJ-A46G-01A-31D-A26M-08		144337212	10933348	71	5326											
FOXB2	442425	broad.mit.edu	37	chr9	79635214	79635214	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcagcagccgtctcaccccgGcaagatgcaggaggcggcgg	8	4	15	14	4	2	1	2	0	1	1	3	2	2	2	3	5	3	3	3	5	1	0			TCGA-EJ-A46H-01A-31D-A26M-08	TCGA-EJ-A46H-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e768ca-262b-4887-831d-be38e2fbded6	4a1b4f8f-a455-4055-bc01-504f65df35b8	g.chr9:79635214G>A	ENST00000376708.1	+	1	644	c.644G>A	c.(643-645)gGc>gAc	p.G215D		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	215					brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|lung(8)|ovary(1)	10						TCTCACCCCGGCAAGATGCAG	0.761													3	20					0	0	1	0	0	A	79635214	G	A	79635214	3	1	101	1	0	0	0	0	1	0	0	0	6026	1203	42	2	646	2	FOXB2	9	79635214	Missense_Mutation	SNP	G	TCGA-EJ-A46H-01A-31D-A26M-08		79635214	61578217	1	5327											
UVRAG	7405	broad.mit.edu	37	chr11	75827023	75827023	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcaaacccttcccaaccTgaaaaacttcatggagcatg	13	7	8	13	1	1	1	1	1	0	0	2	2	2	2	3	2	4	2	3	2	4	2			TCGA-EJ-A46H-01A-31D-A26M-08	TCGA-EJ-A46H-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32e768ca-262b-4887-831d-be38e2fbded6	4a1b4f8f-a455-4055-bc01-504f65df35b8	g.chr11:75827023T>C	ENST00000356136.3	+	14	1602	c.1361T>C	c.(1360-1362)cTg>cCg	p.L454P	UVRAG_ENST00000531818.1_Missense_Mutation_p.L82P|UVRAG_ENST00000532130.1_Missense_Mutation_p.L82P|UVRAG_ENST00000539288.1_Missense_Mutation_p.L82P|UVRAG_ENST00000538870.1_5'UTR|UVRAG_ENST00000533454.1_Missense_Mutation_p.L82P|UVRAG_ENST00000528420.1_Missense_Mutation_p.L353P	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	454					DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						CTTCCCAACCTGAAAAACTTC	0.393													3	24					0	0	1	0	0	C	75827023	T	C	75827023	3	2	101	1	0	0	0	0	1	0	0	0	17168	1580	55	3	1415	3	UVRAG	11	75827023	Missense_Mutation	SNP	T	TCGA-EJ-A46H-01A-31D-A26M-08		75827023	59179493	2	5328											
KCNA3	3738	broad.mit.edu	37	chr1	111217214	111217214	+	Frame_Shift_Del	DEL	G	G	-																															cgccacagccgccttgaggcGgggcccctccaccatcggcc																										TCGA-EJ-A46I-01A-12D-A26M-08	TCGA-EJ-A46I-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8cf1bbc-43e5-41b0-a9c7-bd58e88a2e8e	c0472d02-3ce9-46a1-a7af-29b75e27cb95	g.chr1:111217214delG	ENST00000369769.2	-	1	441	c.218delC	c.(217-219)cgfs	p.P74fs		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	74						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)		GCCTTGAGGCGGGGCCCCTCC	0.781													3	6	---	---	---	---						-	111217214	G	-	111217214	7	5	102	1	0	1	0	1	0	0	0	0	8048	1116	39	0	1513	0	KCNA3	1	111217214	Frame_Shift_Del	DEL	G	TCGA-EJ-A46I-01A-12D-A26M-08		111217214	138033407	1	5329											
NBPF15	284565	broad.mit.edu	37	chr1	148594507	148594507	+	Frame_Shift_Del	DEL	A	A	-																															acaacctgactcattccagcActacagaagtgtgttttact																										TCGA-EJ-A46I-01A-12D-A26M-08	TCGA-EJ-A46I-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8cf1bbc-43e5-41b0-a9c7-bd58e88a2e8e	c0472d02-3ce9-46a1-a7af-29b75e27cb95	g.chr1:148594507delA	ENST00000442702.2	+	21	2947	c.1880delA	c.(1879-1881)ccfs	p.H627fs	NBPF15_ENST00000369187.3_Frame_Shift_Del_p.H627fs	NM_001170755.1	NP_001164226.1	Q8N660	NBPFF_HUMAN	neuroblastoma breakpoint family, member 15	627	NBPF 6.					cytoplasm				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12	all_hematologic(923;0.032)					TCATTCCAGCACTACAGAAGT	0.443													7	318	---	---	---	---						-	148594507	A	-	148594507	7	5	102	1	0	1	0	1	0	0	0	0	10243	159	6	0	1938	0	NBPF15	1	148594507	Frame_Shift_Del	DEL	A	TCGA-EJ-A46I-01A-12D-A26M-08	37377293	148594507	100656114	2	5330											
ATP2B2	491	broad.mit.edu	37	chr3	10413688	10413688	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtggcattgcccatggtCtcacaggcatccaggtggcg	6	9	14	12	1	1	0	1	0	1	0	3	0	2	0	2	5	1	3	2	5	0	1			TCGA-EJ-A46I-01A-12D-A26M-08	TCGA-EJ-A46I-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8cf1bbc-43e5-41b0-a9c7-bd58e88a2e8e	c0472d02-3ce9-46a1-a7af-29b75e27cb95	g.chr3:10413688C>A	ENST00000397077.1	-	11	1904	c.1329G>T	c.(1327-1329)gaG>gaT	p.E443D	ATP2B2_ENST00000383800.4_Missense_Mutation_p.E443D|ATP2B2_ENST00000360273.2_Missense_Mutation_p.E488D|ATP2B2_ENST00000352432.4_Missense_Mutation_p.E488D|ATP2B2_ENST00000343816.4_Missense_Mutation_p.E474D			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	488					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TGCCCATGGTCTCACAGGCAT	0.572													6	67					2.0095e-06	2.53371e-06	1	1	0	A	10413688	C	A	10413688	3	1	102	1	0	0	0	0	1	0	0	0	1139	912	32	4	2315	4	ATP2B2	3	10413688	Missense_Mutation	SNP	C	TCGA-EJ-A46I-01A-12D-A26M-08		10413688	187608742	3	5331											
UTP15	84135	broad.mit.edu	37	chr5	72865483	72865483	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgctagcaaacttaatcCggatctctttataacaggtt	12	14	7	8	1	1	0	0	0	1	0	3	1	2	1	1	2	4	3	1	2	5	6			TCGA-EJ-A46I-01A-12D-A26M-08	TCGA-EJ-A46I-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8cf1bbc-43e5-41b0-a9c7-bd58e88a2e8e	c0472d02-3ce9-46a1-a7af-29b75e27cb95	g.chr5:72865483C>T	ENST00000296792.4	+	5	785	c.530C>T	c.(529-531)cCg>cTg	p.P177L	UTP15_ENST00000543251.1_5'UTR|UTP15_ENST00000508491.1_Missense_Mutation_p.P158L	NM_032175.2	NP_115551.2	Q8TED0	UTP15_HUMAN	UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae)	177					rRNA processing	cytoplasm|nucleolus				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	15		Lung NSC(167;0.00405)|Ovarian(174;0.0129)		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)		AAACTTAATCCGGATCTCTTT	0.373													4	32					0	0	1	0	0	T	72865483	C	T	72865483	3	4	102	1	0	0	0	0	1	0	0	0	17157	652	23	1	544	1	UTP15	5	72865483	Missense_Mutation	SNP	C	TCGA-EJ-A46I-01A-12D-A26M-08		72865483	108049777	4	5332											
ZDHHC14	79683	broad.mit.edu	37	chr6	158093924	158093924	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcccgcccacaccgcccGcctccatgcccaacctcgcc	5	4	8	24	4	0	0	0	0	0	0	2	0	1	0	9	1	2	0	9	1	1	0			TCGA-EJ-A46I-01A-12D-A26M-08	TCGA-EJ-A46I-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8cf1bbc-43e5-41b0-a9c7-bd58e88a2e8e	c0472d02-3ce9-46a1-a7af-29b75e27cb95	g.chr6:158093924G>A	ENST00000359775.5	+	9	2126	c.1237G>A	c.(1237-1239)Gcc>Acc	p.A413T	ZDHHC14_ENST00000341375.8_3'UTR|ZDHHC14_ENST00000414563.2_Missense_Mutation_p.A398T			Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14	413						integral to membrane	acyltransferase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		CACACCGCCCGCCTCCATGCC	0.721													3	14					0	0	1	0	0	A	158093924	G	A	158093924	3	1	102	1	0	0	0	0	1	0	0	0	17662	1087	38	1	1271	1	ZDHHC14	6	158093924	Missense_Mutation	SNP	G	TCGA-EJ-A46I-01A-12D-A26M-08		158093924	13021143	5	5333											
XPO4	64328	broad.mit.edu	37	chr13	21417934	21417934	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactcttttgcagttaccaTggaattccatgctcaatcca	12	13	5	11	0	2	0	1	0	1	0	4	1	4	1	3	1	4	3	3	1	4	4			TCGA-EJ-A46I-01A-12D-A26M-08	TCGA-EJ-A46I-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8cf1bbc-43e5-41b0-a9c7-bd58e88a2e8e	c0472d02-3ce9-46a1-a7af-29b75e27cb95	g.chr13:21417934T>A	ENST00000400602.2	-	5	583	c.548A>T	c.(547-549)cAt>cTt	p.H183L	XPO4_ENST00000255305.6_Missense_Mutation_p.H183L	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN	exportin 4	183					protein transport	cytoplasm|nucleus	protein binding			breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		GCAGTTACCATGGAATTCCAT	0.338													6	27					0	0	1	0	0	A	21417934	T	A	21417934	3	1	102	1	0	0	0	0	1	0	0	0	17506	1464	51	5	2983	5	XPO4	13	21417934	Missense_Mutation	SNP	T	TCGA-EJ-A46I-01A-12D-A26M-08		21417934	93751944	6	5334											
RYR3	6263	broad.mit.edu	37	chr15	33941374	33941374	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgtacagtgaaaagtttgaCctgaataaaaactgcacagt	16	11	8	6	0	0	3	0	3	0	0	0	3	0	3	1	0	3	3	1	0	7	4			TCGA-EJ-A46I-01A-12D-A26M-08	TCGA-EJ-A46I-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8cf1bbc-43e5-41b0-a9c7-bd58e88a2e8e	c0472d02-3ce9-46a1-a7af-29b75e27cb95	g.chr15:33941374C>T	ENST00000389232.4	+	31	4150	c.4080C>T	c.(4078-4080)gaC>gaT	p.D1360D	RYR3_ENST00000415757.3_Silent_p.D1360D	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1360	4 X approximate repeats.|B30.2/SPRY 3.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AAAAGTTTGACCTGAATAAAA	0.532													6	102					0	0	1	0	0	T	33941374	C	T	33941374	2	4	102	1	0	0	0	0	0	0	0	1	13822	506	18	2		2	RYR3	15	33941374	Silent	SNP	C	TCGA-EJ-A46I-01A-12D-A26M-08		33941374	68590018	7	5335											
DTNA	1837	broad.mit.edu	37	chr18	32418795	32418795	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caacatgctccggaacaaccCctcatggttagtgcaggttt	10	10	9	12	1	1	0	1	0	0	0	2	1	2	1	3	3	5	4	3	3	4	2			TCGA-EJ-A46I-01A-12D-A26M-08	TCGA-EJ-A46I-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8cf1bbc-43e5-41b0-a9c7-bd58e88a2e8e	c0472d02-3ce9-46a1-a7af-29b75e27cb95	g.chr18:32418795C>A	ENST00000444659.1	+	12	1260	c.1259C>A	c.(1258-1260)cCc>cAc	p.P420H	DTNA_ENST00000399097.3_Intron|DTNA_ENST00000598334.1_Intron|DTNA_ENST00000597674.1_Intron|DTNA_ENST00000598774.1_Intron|DTNA_ENST00000598142.1_Intron|DTNA_ENST00000556414.3_Intron|DTNA_ENST00000599844.1_Intron|DTNA_ENST00000597599.1_Intron|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000348997.5_Missense_Mutation_p.P417H|DTNA_ENST00000283365.9_Intron|DTNA_ENST00000269192.7_Missense_Mutation_p.P129H|DTNA_ENST00000399113.3_Missense_Mutation_p.P420H|DTNA_ENST00000595022.1_Intron|DTNA_ENST00000399121.5_Intron|DTNA_ENST00000269190.7_Missense_Mutation_p.P421H|DTNA_ENST00000269191.6_Missense_Mutation_p.P420H|DTNA_ENST00000591182.1_Intron|DTNA_ENST00000601125.1_Intron	NM_001390.4	NP_001381.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	420	Syntrophin-binding region.				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						CGGAACAACCCCTCATGGTTA	0.512													4	32					0.150653	0.156034	1	1	0	A	32418795	C	A	32418795	3	1	102	1	0	0	0	0	1	0	0	0	4814	623	22	4	1340	4	DTNA	18	32418795	Missense_Mutation	SNP	C	TCGA-EJ-A46I-01A-12D-A26M-08		32418795	45658453	8	5336											
MBD3	53615	broad.mit.edu	37	chr19	1585131	1585131	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catcagcatcttgcccgtgcGgaagtcgaaggtgctcaggt	8	9	13	11	3	3	0	2	0	1	0	4	2	3	1	1	3	4	2	1	3	2	1			TCGA-EJ-A46I-01A-12D-A26M-08	TCGA-EJ-A46I-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8cf1bbc-43e5-41b0-a9c7-bd58e88a2e8e	c0472d02-3ce9-46a1-a7af-29b75e27cb95	g.chr19:1585131G>T	ENST00000590550.2	-	1	398	c.25C>A	c.(25-27)Cgc>Agc	p.R9S	MBD3_ENST00000585967.1_5'UTR|MBD3_ENST00000592012.1_Missense_Mutation_p.R33S|MBD3_ENST00000434436.3_Missense_Mutation_p.R65S|MBD3_ENST00000156825.1_Missense_Mutation_p.R65S			O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	65	MBD.				transcription, DNA-dependent	NuRD complex	DNA binding|protein binding			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGCCCGTGCGGAAGTCGAAG	0.657													3	23					1	1	1	1	0	T	1585131	G	T	1585131	3	4	102	1	0	0	0	0	1	0	0	0	9394	1116	39	4	702	4	MBD3	19	1585131	Missense_Mutation	SNP	G	TCGA-EJ-A46I-01A-12D-A26M-08		1585131	57543852	9	5337											
FUT3	2525	broad.mit.edu	37	chr19	5844672	5844672	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggatcaggagggtggggCgggtgggagtggtgtcctgt	5	8	23	5	1	1	0	1	0	0	0	2	3	2	3	1	8	0	1	1	8	0	0	rs148881389	byFrequency	TCGA-EJ-A46I-01A-12D-A26M-08	TCGA-EJ-A46I-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8cf1bbc-43e5-41b0-a9c7-bd58e88a2e8e	c0472d02-3ce9-46a1-a7af-29b75e27cb95	g.chr19:5844672C>G	ENST00000303225.6	-	3	813	c.179G>C	c.(178-180)cGc>cCc	p.R60P	FUT3_ENST00000458379.2_Missense_Mutation_p.R60P|FUT3_ENST00000589620.1_Missense_Mutation_p.R60P|FUT3_ENST00000589918.1_Missense_Mutation_p.R60P	NM_000149.3	NP_000140.1	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	60					protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						GAGGGTGGGGCGGGTGGGAGT	0.632													9	29					0	0	1	0	0	G	5844672	C	G	5844672	3	3	102	1	0	0	0	0	1	0	0	0	6140	768	27	4	910	4	FUT3	19	5844672	Missense_Mutation	SNP	C	TCGA-EJ-A46I-01A-12D-A26M-08	4259541	5844672	53284311	10	5338											
ZNF331	55422	broad.mit.edu	37	chr19	54080131	54080131	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtcaatcagatgatcatcaAttatgtcaaaagacctgcta	15	12	6	8	0	5	3	5	1	0	2	5	3	5	3	1	0	1	1	1	0	6	2			TCGA-EJ-A46I-01A-12D-A26M-08	TCGA-EJ-A46I-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8cf1bbc-43e5-41b0-a9c7-bd58e88a2e8e	c0472d02-3ce9-46a1-a7af-29b75e27cb95	g.chr19:54080131A>T	ENST00000253144.9	+	7	1650	c.317A>T	c.(316-318)aAt>aTt	p.N106I	ZNF331_ENST00000511154.1_Missense_Mutation_p.N106I|ZNF331_ENST00000513265.1_Intron|ZNF331_ENST00000411977.2_Missense_Mutation_p.N106I|ZNF331_ENST00000511593.2_Missense_Mutation_p.N106I|ZNF331_ENST00000513999.1_Missense_Mutation_p.N106I|ZNF331_ENST00000449416.1_Missense_Mutation_p.N106I|ZNF331_ENST00000512387.1_Missense_Mutation_p.N106I	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	106					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		ATGATCATCAATTATGTCAAA	0.453			T	?	follicular thyroid adenoma								4	48					0	0	1	0	0	T	54080131	A	T	54080131	3	4	102	1	0	0	0	0	1	0	0	0	17906	101	4	5	327	5	ZNF331	19	54080131	Missense_Mutation	SNP	A	TCGA-EJ-A46I-01A-12D-A26M-08	48235459	54080131	5048852	11	5339											
RPL11	6135	broad.mit.edu	37	chr1	24019112	24019112	+	Frame_Shift_Del	DEL	A	A	-																															gttgcagcaggatcaaggtgAaaaggagaaccccatgcggg																										TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr1:24019112delA	ENST00000374550.3	+	2	65	c.20delA	c.(19-21)gafs	p.E7fs	RPL11_ENST00000482370.1_3'UTR	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN	ribosomal protein L11	7					endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		GATCAAGGTGAAAAGGAGAAC	0.502													20	123	---	---	---	---						-	24019112	A	-	24019112	7	5	103	1	0	1	0	1	0	0	0	0	13609	246	9	0	26	0	RPL11	1	24019112	Frame_Shift_Del	DEL	A	TCGA-EJ-A65B-01A-12D-A30E-08		24019112	225231509	1	5340											
PKN2	5586	broad.mit.edu	37	chr1	89206770	89206770	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agaaattggatgatatcaagGatcgaattaagagagaaata	20	9	10	2	1	1	4	1	1	0	3	2	8	1	6	0	2	0	0	0	2	7	4			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr1:89206770G>A	ENST00000370521.3	+	2	507	c.148G>A	c.(148-150)Gat>Aat	p.D50N	PKN2_ENST00000316005.7_Missense_Mutation_p.D50N|PKN2_ENST00000370513.5_Missense_Mutation_p.D50N|PKN2_ENST00000370505.3_Intron	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	50					signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		TGATATCAAGGATCGAATTAA	0.368													9	60					0	0	1	0	0	A	89206770	G	A	89206770	3	1	103	1	0	0	0	0	1	0	0	0	12028	1174	41	2	154	2	PKN2	1	89206770	Missense_Mutation	SNP	G	TCGA-EJ-A65B-01A-12D-A30E-08	65187658	89206770	160043851	2	5341											
IGSF3	3321	broad.mit.edu	37	chr1	117122291	117122291	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtcgtcgtcgtcgtcgtcCtcctcctcctcctcctccct	0	14	6	21	6	0	0	0	0	0	0	13	0	7	0	7	0	0	0	7	0	0	0			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr1:117122291C>G	ENST00000369486.3	-	10	3822	c.3057G>C	c.(3055-3057)gaG>gaC	p.E1019D	IGSF3_ENST00000369483.1_Missense_Mutation_p.E1039D|IGSF3_ENST00000318837.6_Missense_Mutation_p.E1039D	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	1019	Ig-like C2-type 8.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		cgtcgtcgtcctcctcctcct	0.637													3	44					0	0	1	0	0	G	117122291	C	G	117122291	3	3	103	1	0	0	0	0	1	0	0	0	7645	680	24	4	535	4	IGSF3	1	117122291	Missense_Mutation	SNP	C	TCGA-EJ-A65B-01A-12D-A30E-08	27915521	117122291	132128330	3	5342											
FAM5B	0	broad.mit.edu	37	chr1	177247905	177247905	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatcgccagcctcgcttcCgcctgcccaaggagaggtga	7	6	12	16	3	0	2	0	1	0	1	3	3	1	2	6	2	2	1	6	2	1	1	rs146557924		TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr1:177247905C>T	ENST00000361539.4	+	7	1531	c.1219C>T	c.(1219-1221)Cgc>Tgc	p.R407C	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		407						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						GCCTCGCTTCCGCCTGCCCAA	0.612													4	125					0	0	1	0	0	T	177247905	C	T	177247905	3	4	103	1	0	0	0	0	1	0	0	0	5628	652	23	1	1241	1	FAM5B	1	177247905	Missense_Mutation	SNP	C	TCGA-EJ-A65B-01A-12D-A30E-08	60125614	177247905	72002716	4	5343											
B3GALNT2	148789	broad.mit.edu	37	chr1	235647823	235647823	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actgaacgcttcaatttcctGattcaaaactaagtaatgag	15	12	6	8	1	2	3	2	3	0	0	3	3	3	3	1	0	2	2	1	0	6	5			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr1:235647823G>A	ENST00000366600.3	-	4	598	c.370C>T	c.(370-372)Cag>Tag	p.Q124*	B3GALNT2_ENST00000313984.3_Nonsense_Mutation_p.Q165*|B3GALNT2_ENST00000478199.1_5'UTR	NM_152490.2	NP_689703.1	Q8NCR0	B3GL2_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 2	124					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	OV - Ovarian serous cystadenocarcinoma(106;0.000117)			TCAATTTCCTGATTCAAAACT	0.413													8	188					0	0	1	0	0	A	235647823	G	A	235647823	4	1	103	1	0	0	0	0	0	1	0	0	1244	1299	45	2	1168	2	B3GALNT2	1	235647823	Nonsense_Mutation	SNP	G	TCGA-EJ-A65B-01A-12D-A30E-08	58399918	235647823	13602798	5	5344											
ASPRV1	151516	broad.mit.edu	37	chr2	70187960	70187960	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcattgtggtcctggagcacAtcagtgccaatgatggcttc	8	11	12	10	0	1	1	1	1	0	0	3	2	2	2	2	3	2	3	2	3	1	2			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr2:70187960A>T	ENST00000320256.4	-	1	1437	c.861T>A	c.(859-861)gaT>gaA	p.D287E		NM_152792.2	NP_690005.2	Q53RT3	APRV1_HUMAN	aspartic peptidase, retroviral-like 1	287	Peptidase A2.				protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						CCTGGAGCACATCAGTGCCAA	0.567													27	147					0	0	1	0	0	T	70187960	A	T	70187960	3	4	103	1	0	0	0	0	1	0	0	0	1057	214	8	5	174	5	ASPRV1	2	70187960	Missense_Mutation	SNP	A	TCGA-EJ-A65B-01A-12D-A30E-08		70187960	173011413	6	5345											
AFF3	3899	broad.mit.edu	37	chr2	100209992	100209992	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	actgcccccgttggcagcggCctccttcagcctctgatcat	5	10	9	17	2	3	1	2	1	1	0	4	1	4	1	5	2	3	2	5	2	0	2			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr2:100209992C>A	ENST00000317233.4	-	14	2366	c.2131G>T	c.(2131-2133)Gcc>Tcc	p.A711S	AFF3_ENST00000356421.2_Missense_Mutation_p.A736S|AFF3_ENST00000409579.1_Missense_Mutation_p.A736S|AFF3_ENST00000409236.1_Missense_Mutation_p.A711S	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	711					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TTGGCAGCGGCCTCCTTCAGC	0.632													14	142					4.14922e-12	4.70777e-12	1	1	0	A	100209992	C	A	100209992	3	1	103	1	0	0	0	0	1	0	0	0	357	739	26	4	1593	4	AFF3	2	100209992	Missense_Mutation	SNP	C	TCGA-EJ-A65B-01A-12D-A30E-08	30022032	100209992	142989381	7	5346											
TTN	7273	broad.mit.edu	37	chr2	179428058	179428058	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tacaacatagcctttaacagGtgcgccaccatcataaattg	14	10	6	11	1	1	0	1	0	0	0	1	0	1	0	3	1	5	0	3	1	6	6			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr2:179428058G>T	ENST00000589042.1	-	326	83025	c.82801C>A	c.(82801-82803)Cct>Act	p.P27601T	TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P25033T|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P18661T|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P25960T|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P18536T|TTN_ENST00000342175.6_Missense_Mutation_p.P18728T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25960	Fibronectin type-III 101.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTTTAACAGGTGCGCCACCA	0.493													9	70					1.12685e-05	1.25442e-05	1	1	0	T	179428058	G	T	179428058	3	4	103	1	0	0	0	0	1	0	0	0	16797	1261	44	4	25326	4	TTN	2	179428058	Missense_Mutation	SNP	G	TCGA-EJ-A65B-01A-12D-A30E-08	79218066	179428058	63771315	8	5347											
RAD18	56852	broad.mit.edu	37	chr3	8944154	8944154	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagcaattttcttgtatcCttttctagcctgatccacca	8	16	4	13	0	2	1	0	1	2	0	5	1	5	1	5	0	2	2	5	0	3	7			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr3:8944154C>T	ENST00000264926.2	-	10	1194	c.1078G>A	c.(1078-1080)Gga>Aga	p.G360R		NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN	RAD18 homolog (S. cerevisiae)	360					DNA repair	nucleus|replication fork	damaged DNA binding|ligase activity|ubiquitin protein ligase binding|Y-form DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		TTCTTGTATCCTTTTCTAGCC	0.343								Rad6 pathway					5	55					0	0	1	0	0	T	8944154	C	T	8944154	3	4	103	1	0	0	0	0	1	0	0	0	13032	690	24	2	425	2	RAD18	3	8944154	Missense_Mutation	SNP	C	TCGA-EJ-A65B-01A-12D-A30E-08		8944154	189078276	9	5348											
MLH1	4292	broad.mit.edu	37	chr3	37035090	37035090	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacgagacagtggtgaacCgcatcgcggcgggggaagtt	9	6	18	8	5	0	2	0	1	0	1	1	5	0	4	1	5	1	2	1	5	2	1			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr3:37035090C>T	ENST00000231790.2	+	1	268	c.52C>T	c.(52-54)Cgc>Tgc	p.R18C		NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	18			R -> C (in HNPCC2).		mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						AGTGGTGAACCGCATCGCGGC	0.567		1	"D, Mis, N, F, S"		"colorectal, endometrial, ovarian, CNS"	"colorectal, endometrial, ovarian, CNS"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				17	120					0	0	1	0	0	T	37035090	C	T	37035090	3	4	103	1	0	0	0	0	1	0	0	0	9665	652	23	1	54	1	MLH1	3	37035090	Missense_Mutation	SNP	C	TCGA-EJ-A65B-01A-12D-A30E-08	28090936	37035090	160987340	10	5349											
GOLGA4	2803	broad.mit.edu	37	chr3	37369279	37369281	+	In_Frame_Del	DEL	AAG	AAG	-																															agcaagaattggaaatactaAagaaagaatatgatcaagaa																										TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr3:37369279_37369281delAAG	ENST00000361924.2	+	14	6276_6278	c.5902_5904delAAG	c.(5902-5904)del	p.K1969del	GOLGA4_ENST00000356847.4_In_Frame_Del_p.K1991del|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1969	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GGAAATACTAAAGAAAGAATATG	0.355													9	103	---	---	---	---						-	37369281	AAG	-	37369279	7	5	103	1	0	1	0	1	0	0	0	0	6597	15	1	0	6026	0	GOLGA4	3	37369279	In_Frame_Del	DEL	AAG	TCGA-EJ-A65B-01A-12D-A30E-08	334189	37369279	160653151	11	5350											
LARS2	23395	broad.mit.edu	37	chr3	45527196	45527196	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attttcagattgcctcacgcCtgtaatggctgtgaacatgc	9	13	9	10	1	2	2	2	1	0	1	2	2	2	2	2	1	3	2	2	1	2	4			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr3:45527196C>T	ENST00000415258.1	+	10	1172	c.1031C>T	c.(1030-1032)cCt>cTt	p.P344L	LARS2-AS1_ENST00000442534.2_RNA|LARS2_ENST00000414984.1_Missense_Mutation_p.P301L|LARS2_ENST00000265537.3_Missense_Mutation_p.P344L			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	344					leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	TGCCTCACGCCTGTAATGGCT	0.453													12	198					0	0	1	0	0	T	45527196	C	T	45527196	3	4	103	1	0	0	0	0	1	0	0	0	8674	681	24	2	1065	2	LARS2	3	45527196	Missense_Mutation	SNP	C	TCGA-EJ-A65B-01A-12D-A30E-08	8157917	45527196	152495234	12	5351											
EVC2	132884	broad.mit.edu	37	chr4	5576482	5576482	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctagcacgacactgttcTgttgttcctctctcaaactg	7	15	6	13	1	4	0	1	0	3	0	6	1	5	0	1	0	2	4	1	0	2	5			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr4:5576482T>C	ENST00000310917.2	-	19	3781	c.3050A>G	c.(3049-3051)cAg>cGg	p.Q1017R	EVC2_ENST00000344938.1_Missense_Mutation_p.Q1097R|EVC2_ENST00000344408.5_Missense_Mutation_p.Q1097R	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	1097						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						GACACTGTTCTGTTGTTCCTC	0.408													16	76					0	0	1	0	0	C	5576482	T	C	5576482	3	2	103	1	0	0	0	0	1	0	0	0	5314	1580	55	3	652	3	EVC2	4	5576482	Missense_Mutation	SNP	T	TCGA-EJ-A65B-01A-12D-A30E-08		5576482	185577794	13	5352											
ANKRD55	79722	broad.mit.edu	37	chr5	55472007	55472007	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggccaggcataaacttgtgCggccataagcatcctgcatg	10	9	11	11	1	0	0	0	0	0	0	1	0	1	0	3	3	4	3	3	3	3	3			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr5:55472007C>T	ENST00000341048.4	-	4	435	c.284G>A	c.(283-285)cGc>cAc	p.R95H	ANKRD55_ENST00000504958.2_Missense_Mutation_p.R95H|ANKRD55_ENST00000513241.2_Missense_Mutation_p.R66H	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	94										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				TAAACTTGTGCGGCCATAAGC	0.542													5	184					0	0	1	0	0	T	55472007	C	T	55472007	3	4	103	1	0	0	0	0	1	0	0	0	675	768	27	1	1596	1	ANKRD55	5	55472007	Missense_Mutation	SNP	C	TCGA-EJ-A65B-01A-12D-A30E-08		55472007	125443253	14	5353											
RAD17	5884	broad.mit.edu	37	chr5	68689274	68689274	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatggaaattgatgatattGtgagagccagtgaatttctg	12	14	11	4	0	2	4	1	4	1	1	2	6	2	5	1	1	1	0	1	1	3	4			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr5:68689274G>T	ENST00000509734.1	+	14	2080	c.1402G>T	c.(1402-1404)Gtg>Ttg	p.V468L	RAD17_ENST00000354868.5_Missense_Mutation_p.V457L|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000358030.2_Missense_Mutation_p.V292L|RAD17_ENST00000521422.1_Missense_Mutation_p.V292L|RAD17_ENST00000345306.6_Missense_Mutation_p.V457L|RAD17_ENST00000305138.4_Missense_Mutation_p.V457L|RAD17_ENST00000282891.6_Missense_Mutation_p.V371L|RAD17_ENST00000361732.2_Missense_Mutation_p.V457L|RAD17_ENST00000380774.3_Missense_Mutation_p.V468L|RAD17_ENST00000354312.3_Missense_Mutation_p.V457L			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	468	Interaction with MCM7.				cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		TGATGATATTGTGAGAGCCAG	0.328								Other conserved DNA damage response genes					5	54					3.59834e-05	3.93152e-05	1	1	0	T	68689274	G	T	68689274	3	4	103	1	0	0	0	0	1	0	0	0	13031	1377	48	4	1461	4	RAD17	5	68689274	Missense_Mutation	SNP	G	TCGA-EJ-A65B-01A-12D-A30E-08	13217267	68689274	112225986	15	5354											
PCDHB2	0	broad.mit.edu	37	chr5	140475929	140475929	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acggccacctgttcgctctcCagtcgctggactacgaggcc	6	8	11	16	4	1	0	0	0	1	0	4	2	1	1	4	3	1	3	4	3	1	2			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr5:140475929C>A	ENST00000194155.4	+	1	1703	c.1555C>A	c.(1555-1557)Cag>Aag	p.Q519K		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		519	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTCGCTCTCCAGTCGCTGGA	0.716													5	285					0.184627	0.191105	1	1	0	A	140475929	C	A	140475929	3	1	103	1	0	0	0	0	1	0	0	0	11589	595	21	4	1557	4	PCDHB2	5	140475929	Missense_Mutation	SNP	C	TCGA-EJ-A65B-01A-12D-A30E-08	71786655	140475929	40439331	16	5355											
FAM50B	26240	broad.mit.edu	37	chr6	3850337	3850337	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccagcacctggaggagcagCggctgcagcaggagcggcag	9	2	18	12	2	0	0	0	0	0	0	0	3	0	3	2	5	6	6	2	5	0	0			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr6:3850337C>T	ENST00000380274.1	+	1	718	c.292C>T	c.(292-294)Cgg>Tgg	p.R98W	FAM50B_ENST00000380272.3_Missense_Mutation_p.R98W			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	98						nucleus				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				GGAGGagcagcggctgcagca	0.687													3	32					0	0	1	0	0	T	3850337	C	T	3850337	3	4	103	1	0	0	0	0	1	0	0	0	5614	759	27	1	294	1	FAM50B	6	3850337	Missense_Mutation	SNP	C	TCGA-EJ-A65B-01A-12D-A30E-08		3850337	167264730	17	5356											
FBXO30	84085	broad.mit.edu	37	chr6	146125919	146125919	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagtccagcatgaatgtcAccatgcacattcttaaagtg	12	12	8	9	0	2	2	1	2	1	0	3	2	3	2	2	0	2	2	2	0	3	3			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr6:146125919A>C	ENST00000237281.4	-	2	1789	c.1623T>G	c.(1621-1623)ggT>ggG	p.G541G		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	541							ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		CATGAATGTCACCATGCACAT	0.423													14	116					0	0	1	0	0	C	146125919	A	C	146125919	2	2	103	1	0	0	0	0	0	0	0	1	5773	146	6	5		5	FBXO30	6	146125919	Silent	SNP	A	TCGA-EJ-A65B-01A-12D-A30E-08	142275582	146125919	24989148	18	5357											
ADCYAP1R1	117	broad.mit.edu	37	chr7	31126609	31126609	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgctgagactctactttgaTgacacagggttagtacatgc	11	11	10	9	1	1	3	0	3	1	1	1	4	1	3	0	1	3	3	0	1	3	4			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr7:31126609T>G	ENST00000304166.4	+	11	1165	c.876T>G	c.(874-876)gaT>gaG	p.D292E	ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.D292E|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.D271E|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.D292E	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	292					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						TCTACTTTGATGACACAGGGT	0.512													20	135					0	0	1	0	0	G	31126609	T	G	31126609	3	3	103	1	0	0	0	0	1	0	0	0	302	1461	51	5	914	5	ADCYAP1R1	7	31126609	Missense_Mutation	SNP	T	TCGA-EJ-A65B-01A-12D-A30E-08		31126609	128012054	19	5358											
POM121	9883	broad.mit.edu	37	chr7	72398976	72398976	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atttgagcccctggtggccaAtggagtccccgcttcttttg	5	13	11	12	1	1	1	0	1	1	0	2	2	2	2	5	3	1	1	5	3	1	4	rs147859349		TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr7:72398976A>G	ENST00000395270.1	+	7	1322	c.281A>G	c.(280-282)aAt>aGt	p.N94S	POM121_ENST00000446813.1_Missense_Mutation_p.N94S|POM121_ENST00000257622.4_Missense_Mutation_p.N94S|POM121_ENST00000434423.2_Missense_Mutation_p.N359S|POM121_ENST00000358357.3_Missense_Mutation_p.N94S	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	359	Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				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)				CTGGTGGCCAATGGAGTCCCC	0.468													6	285					0	0	1	0	0	G	72398976	A	G	72398976	3	3	103	1	0	0	0	0	1	0	0	0	12287	101	4	3	291	3	POM121	7	72398976	Missense_Mutation	SNP	A	TCGA-EJ-A65B-01A-12D-A30E-08	41272367	72398976	86739687	20	5359											
MUC17	140453	broad.mit.edu	37	chr7	100683986	100683986	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgaaggtaccagcatgccaAtctcaacttatagtgaagga	14	9	9	9	0	1	2	1	2	1	0	2	3	1	3	2	2	4	2	2	2	7	3			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr7:100683986A>T	ENST00000306151.4	+	3	9353	c.9289A>T	c.(9289-9291)Atc>Ttc	p.I3097F		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3097	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGCATGCCAATCTCAACTTA	0.488													6	701					0	0	1	0	0	T	100683986	A	T	100683986	3	4	103	1	0	0	0	0	1	0	0	0	10022	101	4	5	9299	5	MUC17	7	100683986	Missense_Mutation	SNP	A	TCGA-EJ-A65B-01A-12D-A30E-08	28285010	100683986	58454677	21	5360											
TAS2R38	5726	broad.mit.edu	37	chr7	141672669	141672669	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcacccctattttgtcgCgccacagaatcagtaggggc	9	9	9	14	2	2	1	2	0	0	1	3	1	2	1	4	2	0	1	4	2	3	4	rs139085046	byFrequency	TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr7:141672669C>T	ENST00000547270.1	-	1	904	c.821G>A	c.(820-822)cGc>cAc	p.R274H		NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	274					sensory perception of taste	integral to membrane	G-protein coupled receptor activity	p.R274H(1)		NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					TATTTTGTCGCGCCACAGAAT	0.502													7	98					0	0	1	0	0	T	141672669	C	T	141672669	3	4	103	1	0	0	0	0	1	0	0	0	15632	768	27	1	184	1	TAS2R38	7	141672669	Missense_Mutation	SNP	C	TCGA-EJ-A65B-01A-12D-A30E-08	40988683	141672669	17465994	22	5361											
SVEP1	79987	broad.mit.edu	37	chr9	113170553	113170553	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tccattggggatttcctcagGttggggacattctactggaa	8	13	12	8	0	2	0	1	0	1	0	4	3	4	3	2	6	1	1	2	6	2	5			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr9:113170553G>T	ENST00000401783.2	-	38	7663	c.7327C>A	c.(7327-7329)Cct>Act	p.P2443T	SVEP1_ENST00000374469.1_Missense_Mutation_p.P2420T|SVEP1_ENST00000297826.5_Missense_Mutation_p.P369T	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2443	Sushi 18.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ATTTCCTCAGGTTGGGGACAT	0.498													4	61					0.00024832	0.00026638	1	1	0	T	113170553	G	T	113170553	3	4	103	1	0	0	0	0	1	0	0	0	15476	1261	44	4	3432	4	SVEP1	9	113170553	Missense_Mutation	SNP	G	TCGA-EJ-A65B-01A-12D-A30E-08		113170553	28042878	23	5362											
ZCCHC24	219654	broad.mit.edu	37	chr10	81154106	81154106	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccaggagttcccgctcaTccattttctcttgcacttgg	5	13	9	14	1	2	0	1	0	1	0	5	1	4	1	3	3	1	3	3	3	0	5			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr10:81154106T>C	ENST00000372336.3	-	3	724	c.538A>G	c.(538-540)Atg>Gtg	p.M180V	RP11-342M3.5_ENST00000438554.2_RNA|ZCCHC24_ENST00000372333.3_Missense_Mutation_p.D120G	NM_153367.3	NP_699198.2	Q8N2G6	ZCH24_HUMAN	zinc finger, CCHC domain containing 24	180							nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)	9						TTCCCGCTCATCCATTTTCTC	0.592													9	151					0	0	1	0	0	C	81154106	T	C	81154106	3	2	103	1	0	0	0	0	1	0	0	0	17646	1435	50	3	195	3	ZCCHC24	10	81154106	Missense_Mutation	SNP	T	TCGA-EJ-A65B-01A-12D-A30E-08		81154106	54380641	24	5363											
NEURL	0	broad.mit.edu	37	chr10	105330664	105330664	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttccccgtcacttctcacCgatgccaccacaagcagaag	10	7	6	18	2	2	1	2	0	1	1	4	2	3	1	6	0	2	1	6	0	2	2			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr10:105330664C>A	ENST00000369780.4	+	2	530	c.121C>A	c.(121-123)Cga>Aga	p.R41R	NEURL_ENST00000369777.2_Silent_p.R24R	NM_004210.4	NP_004201.3	O76050	NEU1A_HUMAN		41					nervous system development	perinuclear region of cytoplasm	zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		CACTTCTCACCGATGCCACCA	0.647													5	339					0.217242	0.220988	1	1	0	A	105330664	C	A	105330664	2	1	103	1	0	0	0	0	0	0	0	1	10392	644	23	4		4	NEURL	10	105330664	Silent	SNP	C	TCGA-EJ-A65B-01A-12D-A30E-08	24176558	105330664	30204083	25	5364											
CKAP5	9793	broad.mit.edu	37	chr11	46798996	46798996	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagttaggtttaccttgctgTctccaaggactgtgatgata	9	14	11	7	0	1	2	0	2	1	0	2	4	1	3	2	2	2	3	2	2	4	5			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr11:46798996T>C	ENST00000529230.1	-	23	2901	c.2855A>G	c.(2854-2856)gAc>gGc	p.D952G	CKAP5_ENST00000354558.3_Missense_Mutation_p.D952G|CKAP5_ENST00000415402.1_Missense_Mutation_p.D952G|CKAP5_ENST00000312055.5_Missense_Mutation_p.D952G			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	952					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TACCTTGCTGTCTCCAAGGAC	0.403													3	26					0	0	1	0	0	C	46798996	T	C	46798996	3	2	103	1	0	0	0	0	1	0	0	0	3468	1667	58	3	3331	3	CKAP5	11	46798996	Missense_Mutation	SNP	T	TCGA-EJ-A65B-01A-12D-A30E-08		46798996	88207520	26	5365											
OR4A15	81328	broad.mit.edu	37	chr11	55135606	55135606	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcatggccagccagtccCtgggttcccccatgtacttt	6	11	8	16	0	1	0	1	0	0	0	3	0	3	0	6	2	2	2	6	2	1	3			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr11:55135606C>G	ENST00000314706.3	+	1	247	c.247C>G	c.(247-249)Ctg>Gtg	p.L83V		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CAGCCAGTCCCTGGGTTCCCC	0.423													28	142					0	0	1	0	0	G	55135606	C	G	55135606	3	3	103	1	0	0	0	0	1	0	0	0	11088	680	24	4	249	4	OR4A15	11	55135606	Missense_Mutation	SNP	C	TCGA-EJ-A65B-01A-12D-A30E-08	8336610	55135606	79870910	27	5366											
SNX32	254122	broad.mit.edu	37	chr11	65618619	65618619	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcgggccgaccgcgtcatgCgcgcccacaagtgtacgcag	7	5	14	15	7	1	0	1	0	0	0	1	1	1	0	3	1	3	2	3	1	2	1	rs147615662	byFrequency	TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr11:65618619C>T	ENST00000308342.6	+	7	1122	c.697C>T	c.(697-699)Cgc>Tgc	p.R233C		NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN	sorting nexin 32	233					cell communication|protein transport		phosphatidylinositol binding	p.R233C(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		CCGCGTCATGCGCGCCCACAA	0.632											OREG0021087	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	273					0	0	1	0	0	T	65618619	C	T	65618619	3	4	103	1	0	0	0	0	1	0	0	0	14956	768	27	1	723	1	SNX32	11	65618619	Missense_Mutation	SNP	C	TCGA-EJ-A65B-01A-12D-A30E-08	10483013	65618619	69387897	28	5367											
PPFIA1	8500	broad.mit.edu	37	chr11	70221156	70221156	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgaaaccttcgacttcaGtgcactggcactgctgttac	10	11	9	11	1	1	2	1	1	0	1	2	3	1	2	1	1	4	4	1	1	2	3			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr11:70221156G>T	ENST00000253925.7	+	24	3487	c.3272G>T	c.(3271-3273)aGt>aTt	p.S1091I	AP000487.5_ENST00000530690.1_RNA|PPFIA1_ENST00000530548.1_3'UTR|PPFIA1_ENST00000389547.3_Missense_Mutation_p.S1091I|AP000487.5_ENST00000500185.2_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	1091	SAM 3.				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TTCGACTTCAGTGCACTGGCA	0.483													4	26					0.00909568	0.00958295	1	1	0	T	70221156	G	T	70221156	3	4	103	1	0	0	0	0	1	0	0	0	12354	1029	36	4	3362	4	PPFIA1	11	70221156	Missense_Mutation	SNP	G	TCGA-EJ-A65B-01A-12D-A30E-08	4602537	70221156	64785360	29	5368											
LRRK2	120892	broad.mit.edu	37	chr12	40689228	40689228	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgtttgtttttgacaaaaGggtcatcaaaacttcaatcc	12	16	6	7	0	3	1	3	1	0	0	4	1	4	1	1	1	1	2	1	1	5	5			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr12:40689228G>A	ENST00000298910.7	+	23	2936		c.e23-1		LRRK2_ENST00000343742.2_Splice_Site	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2						activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTTGACAAAAGGGTCATCAAA	0.343													11	43					0	0	1	0	0	A	40689228	G	A	40689228	5	1	103	1	0	0	0	0	0	0	1	0	9078	1014	35	2	2968	2	LRRK2	12	40689228	Splice_Site	SNP	G	TCGA-EJ-A65B-01A-12D-A30E-08		40689228	93162667	30	5369											
CCDC59	29080	broad.mit.edu	37	chr12	82746933	82746933	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgtaggaacaaaatgtttaAcatttttcttgtattttttg	11	20	6	4	0	1	0	0	0	1	0	1	1	1	1	0	1	2	3	0	1	6	10			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr12:82746933A>G	ENST00000256151.7	-	4	1134	c.723T>C	c.(721-723)tgT>tgC	p.C241C	CCDC59_ENST00000548126.1_5'UTR	NM_014167.4	NP_054886.2	Q9P031	TAP26_HUMAN	coiled-coil domain containing 59	241					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)	5						AAAATGTTTAACATTTTTCTT	0.343													7	51					0	0	1	0	0	G	82746933	A	G	82746933	2	3	103	1	0	0	0	0	0	0	0	1	2849	41	2	3		3	CCDC59	12	82746933	Silent	SNP	A	TCGA-EJ-A65B-01A-12D-A30E-08	42057705	82746933	51104962	31	5370											
FZD10	11211	broad.mit.edu	37	chr12	130648265	130648265	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggcccgcttccgctaccccGagcgccccatcatcttcctc	4	8	7	22	5	2	0	1	0	1	0	5	1	4	0	7	1	2	2	7	1	1	3			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr12:130648265G>A	ENST00000539839.1	+	1	1262	c.680G>A	c.(679-681)cGa>cAa	p.R227Q	FZD10_ENST00000229030.4_Missense_Mutation_p.E260K	NM_007197.3	NP_009128.1	Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	0					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CCGCTACCCCGAGCGCCCCAT	0.662													12	174					0	0	1	0	0	A	130648265	G	A	130648265	3	1	103	1	0	0	0	0	1	0	0	0	6164	1059	37	1	780	1	FZD10	12	130648265	Missense_Mutation	SNP	G	TCGA-EJ-A65B-01A-12D-A30E-08	47901332	130648265	3203630	32	5371											
PCDH8	5100	broad.mit.edu	37	chr13	53421430	53421430	+	Frame_Shift_Del	DEL	C	C	-																															ccggcgagctagcgtccgctCccccgagtgcagcggcggcg																										TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr13:53421430delC	ENST00000377942.3	-	1	1345	c.1142delG	c.(1141-1143)gafs	p.G381fs	PCDH8_ENST00000338862.4_Frame_Shift_Del_p.G381fs	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	381					cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		AGCGTCCGCTCCCCCGAGTGC	0.766													2	4	---	---	---	---						-	53421430	C	-	53421430	7	5	103	1	0	1	0	1	0	0	0	0	11564	855	30	0	2082	0	PCDH8	13	53421430	Frame_Shift_Del	DEL	C	TCGA-EJ-A65B-01A-12D-A30E-08		53421430	61748448	33	5372											
LRRC16B	90668	broad.mit.edu	37	chr14	24530760	24530760	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttatgccctgtggccatgCgggtggccgagggacacaac	8	7	15	11	2	0	0	0	0	0	0	0	2	0	1	3	4	3	1	3	4	2	1			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr14:24530760C>T	ENST00000342740.5	+	27	2513	c.2359C>T	c.(2359-2361)Cgg>Tgg	p.R787W	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	787								p.R787W(3)		breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		TGTGGCCATGCGGGTGGCCGA	0.612													4	45					0	0	1	0	0	T	24530760	C	T	24530760	3	4	103	1	0	0	0	0	1	0	0	0	9017	759	27	1	2465	1	LRRC16B	14	24530760	Missense_Mutation	SNP	C	TCGA-EJ-A65B-01A-12D-A30E-08		24530760	82818780	34	5373											
MAP1A	4130	broad.mit.edu	37	chr15	43817087	43817087	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcagaaagatgaggtgctcaGatatcctgaccgaagcctct	12	9	10	10	1	3	5	2	2	1	3	4	6	4	5	3	1	2	1	3	1	3	1			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr15:43817087G>C	ENST00000382031.1	+	5	4161	c.4130G>C	c.(4129-4131)aGa>aCa	p.R1377T	MAP1A_ENST00000399453.1_Missense_Mutation_p.R1139T|MAP1A_ENST00000300231.5_Missense_Mutation_p.R1139T			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1139						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GAGGTGCTCAGATATCCTGAC	0.567													12	118					0	0	1	0	0	C	43817087	G	C	43817087	3	2	103	1	0	0	0	0	1	0	0	0	9277	942	33	4	3418	4	MAP1A	15	43817087	Missense_Mutation	SNP	G	TCGA-EJ-A65B-01A-12D-A30E-08		43817087	58714305	35	5374											
ANXA2	302	broad.mit.edu	37	chr15	60656720	60656720	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaatggtgacctcatccaCacctatggaaatacaagttg	14	9	8	10	0	1	1	1	1	0	0	2	3	2	2	3	2	1	1	3	2	5	3			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr15:60656720C>T	ENST00000396024.3	-	5	310	c.151G>A	c.(151-153)Gtg>Atg	p.V51M	ANXA2_ENST00000332680.4_Missense_Mutation_p.V69M|ANXA2_ENST00000557937.1_5'UTR|ANXA2_ENST00000451270.2_Missense_Mutation_p.V51M|ANXA2_ENST00000421017.2_Missense_Mutation_p.V51M	NM_001136015.2	NP_001129487.1	P07355	ANXA2_HUMAN	annexin A2	51					angiogenesis|positive regulation of vesicle fusion|skeletal system development	basement membrane|melanosome|midbody|soluble fraction	calcium ion binding|calcium-dependent phospholipid binding|cytoskeletal protein binding|phospholipase inhibitor activity			kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9					Alteplase(DB00009)|Anistreplase(DB00029)|Tenecteplase(DB00031)	ACCTCATCCACACCTATGGAA	0.408													6	54					0	0	1	0	0	T	60656720	C	T	60656720	3	4	103	1	0	0	0	0	1	0	0	0	712	478	17	2	908	2	ANXA2	15	60656720	Missense_Mutation	SNP	C	TCGA-EJ-A65B-01A-12D-A30E-08	16839633	60656720	41874672	36	5375											
ABCC6	368	broad.mit.edu	37	chr16	16256866	16256866	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacctgtcagccaccagtcGcgggaaactgatcctctggc	8	8	10	15	2	2	1	1	1	1	0	4	2	3	2	4	2	3	0	4	2	2	1	rs72653744		TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr16:16256866G>A	ENST00000205557.7	-	24	3519	c.3490C>T	c.(3490-3492)Cga>Tga	p.R1164*		NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	1164	ABC transmembrane type-1 2.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.R1164*(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		GCCACCAGTCGCGGGAAACTG	0.547													33	239					0	0	1	0	0	A	16256866	G	A	16256866	4	1	103	1	0	0	0	0	0	1	0	0	57	1095	38	1	1053	1	ABCC6	16	16256866	Nonsense_Mutation	SNP	G	TCGA-EJ-A65B-01A-12D-A30E-08		16256866	74097887	37	5376											
BCAR1	9564	broad.mit.edu	37	chr16	75271144	75271144	+	Frame_Shift_Del	DEL	C	C	-																															acatcatagatgtcctgtggCcccggggccagcaggtgtcg																										TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr16:75271144delC	ENST00000546196.1	-	3	2297	c.645delG	c.(643-645)ggfs	p.G215fs	BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000418647.3_Frame_Shift_Del_p.G290fs|BCAR1_ENST00000542031.2_Frame_Shift_Del_p.G242fs|BCAR1_ENST00000420641.3_Frame_Shift_Del_p.G262fs|BCAR1_ENST00000535626.2_Frame_Shift_Del_p.G96fs|BCAR1_ENST00000538440.2_Frame_Shift_Del_p.G244fs|BCAR1_ENST00000162330.5_Frame_Shift_Del_p.G244fs|BCAR1_ENST00000393420.6_Frame_Shift_Del_p.G244fs|BCAR1_ENST00000393422.2_Frame_Shift_Del_p.G262fs			P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	244	Substrate for kinases (By similarity).				actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		TGTCCTGTGGCCCCGGGGCCA	0.697													2	4	---	---	---	---						-	75271144	C	-	75271144	7	5	103	1	0	1	0	1	0	0	0	0	1346	726	26	0	1954	0	BCAR1	16	75271144	Frame_Shift_Del	DEL	C	TCGA-EJ-A65B-01A-12D-A30E-08	59014278	75271144	15083609	38	5377											
SLC4A1	6521	broad.mit.edu	37	chr17	42335164	42335164	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgacactcccatctggttccGggtcttttctcctgtgggta	4	14	10	13	2	3	0	0	0	3	0	6	1	5	0	3	3	0	2	3	3	1	4			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr17:42335164G>A	ENST00000262418.6	-	12	1449	c.1294C>T	c.(1294-1296)Cgg>Tgg	p.R432W		NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	432	Membrane (anion exchange).		R -> W (in ELO antigen).		bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		ATCTGGTTCCGGGTCTTTTCT	0.587													8	83					0	0	1	0	0	A	42335164	G	A	42335164	3	1	103	1	0	0	0	0	1	0	0	0	14705	1115	39	1	1477	1	SLC4A1	17	42335164	Missense_Mutation	SNP	G	TCGA-EJ-A65B-01A-12D-A30E-08		42335164	38860046	39	5378											
RNF213	57674	broad.mit.edu	37	chr17	78314067	78314067	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcctacctggcaggtcactAccgggtcccgaagcagaccc	9	5	11	16	2	1	1	1	0	0	1	2	2	2	1	5	3	4	2	5	3	3	2			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr17:78314067A>G	ENST00000582970.1	+	26	6043	c.5900A>G	c.(5899-5901)tAc>tGc	p.Y1967C	RNF213_ENST00000336301.6_Missense_Mutation_p.Y40C|RNF213_ENST00000508628.2_Missense_Mutation_p.Y2016C	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GCAGGTCACTACCGGGTCCCG	0.642													4	60					0	0	1	0	0	G	78314067	A	G	78314067	3	3	103	1	0	0	0	0	1	0	0	0	13529	391	14	3	6317	3	RNF213	17	78314067	Missense_Mutation	SNP	A	TCGA-EJ-A65B-01A-12D-A30E-08	35978903	78314067	2881143	40	5379											
ZNF99	7652	broad.mit.edu	37	chr19	22941275	22941275	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attcttcacatttgtagggtTtctctccagtatgaattatc	9	18	6	8	0	3	1	1	1	2	0	6	1	4	1	1	1	0	3	1	1	4	7			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr19:22941275T>C	ENST00000397104.3	-	5	1162	c.1163A>G	c.(1162-1164)aAa>aGa	p.K388R	ZNF99_ENST00000596209.1_Missense_Mutation_p.K479R					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TTTGTAGGGTTTCTCTCCAGT	0.353													5	35					0	0	1	0	0	C	22941275	T	C	22941275	3	2	103	1	0	0	0	0	1	0	0	0	18246	1841	64	3	1961	3	ZNF99	19	22941275	Missense_Mutation	SNP	T	TCGA-EJ-A65B-01A-12D-A30E-08		22941275	36187708	41	5380											
SIRT2	22933	broad.mit.edu	37	chr19	39379731	39379731	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcgcatccgcctacctgcGtgtagcagcgcaggagtagc	7	7	13	14	4	0	0	0	0	0	0	2	1	1	1	3	1	5	6	3	1	3	3			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr19:39379731G>A	ENST00000249396.7	-	8	798	c.497C>T	c.(496-498)aCg>aTg	p.T166M	SIRT2_ENST00000392081.2_Missense_Mutation_p.T129M|SIRT2_ENST00000358931.5_Missense_Mutation_p.T166M	NM_012237.3	NP_036369.2	Q8IXJ6	SIRT2_HUMAN	sirtuin 2	166	Deacetylase sirtuin-type.				cell division|chromatin silencing at rDNA|chromatin silencing at telomere|mitosis|negative regulation of striated muscle tissue development|protein ADP-ribosylation|regulation of exit from mitosis|regulation of phosphorylation|response to redox state	chromatin silencing complex|cytoplasm|microtubule	histone acetyltransferase binding|histone deacetylase binding|NAD+ binding|NAD-dependent histone deacetylase activity|transcription factor binding|tubulin deacetylase activity|ubiquitin binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)			GCCTACCTGCGTGTAGCAGCG	0.622													6	108					0	0	1	0	0	A	39379731	G	A	39379731	3	1	103	1	0	0	0	0	1	0	0	0	14393	1145	40	1	708	1	SIRT2	19	39379731	Missense_Mutation	SNP	G	TCGA-EJ-A65B-01A-12D-A30E-08	16438456	39379731	19749252	42	5381											
VN1R1	57191	broad.mit.edu	37	chr19	57966837	57966837	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagagtgttttccttgtccTgcaggcaaaacagaactgag	13	10	10	8	0	0	3	0	1	0	2	2	3	2	3	2	1	3	3	2	1	4	3			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr19:57966837T>C	ENST00000321039.3	-	1	1017	c.1018A>G	c.(1018-1020)Agg>Ggg	p.R340G	AC004076.9_ENST00000596831.1_Intron|AC004076.9_ENST00000415705.3_5'UTR	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	340					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		TTCCTTGTCCTGCAGGCAAAA	0.428													7	96					0	0	1	0	0	C	57966837	T	C	57966837	3	2	103	1	0	0	0	0	1	0	0	0	17238	1579	55	3	47	3	VN1R1	19	57966837	Missense_Mutation	SNP	T	TCGA-EJ-A65B-01A-12D-A30E-08	18587106	57966837	1162146	43	5382			1	14		2	2	28	N	T_G	4.099183e-05
VN1R1	57191	broad.mit.edu	37	chr19	57966864	57966864	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaacagaactgagagatatGagtatcactcatgatgagga	18	8	10	5	0	2	6	2	4	0	2	2	8	2	7	0	1	2	1	0	1	5	2			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chr19:57966864G>A	ENST00000321039.3	-	1	990	c.991C>T	c.(991-993)Cat>Tat	p.H331Y	AC004076.9_ENST00000596831.1_Intron|AC004076.9_ENST00000415705.3_5'UTR	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	331					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		TGAGAGATATGAGTATCACTC	0.458													6	117					0	0	1	0	0	A	57966864	G	A	57966864	3	1	103	1	0	0	0	0	1	0	0	0	17238	1290	45	2	74	2	VN1R1	19	57966864	Missense_Mutation	SNP	G	TCGA-EJ-A65B-01A-12D-A30E-08	27	57966864	1162119	44	5383			1	14		2	2	28	N	T_G	4.099183e-05
PRKX	5613	broad.mit.edu	37	chrX	3573441	3573441	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tagaggaagcgctcgtcatgCcacgtccagaacctgcgggg	9	6	14	12	4	1	2	1	0	0	2	3	3	2	3	3	3	4	1	3	3	3	1			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chrX:3573441C>T	ENST00000262848.5	-	3	702	c.348G>A	c.(346-348)tgG>tgA	p.W116*	PRKX_ENST00000425240.1_5'UTR	NM_005044.4	NP_005035.1	P51817	PRKX_HUMAN	protein kinase, X-linked	116	Protein kinase.						ATP binding|cAMP-dependent protein kinase activity			kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(2)	12		all_lung(23;0.000396)|Lung NSC(23;0.00123)				GCTCGTCATGCCACGTCCAGA	0.662													3	27					0	0	1	0	0	T	3573441	C	T	3573441	4	4	103	1	0	0	0	0	0	1	0	0	12579	740	26	2	752	2	PRKX	23	3573441	Nonsense_Mutation	SNP	C	TCGA-EJ-A65B-01A-12D-A30E-08		3573441	151697119	45	5384											
BCOR	54880	broad.mit.edu	37	chrX	39911629	39911629	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaatttcttaaggacatcCgaaagcagtagccagtttcg	12	12	8	9	2	2	0	1	0	1	0	4	2	3	1	2	1	2	3	2	1	4	5			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chrX:39911629C>T	ENST00000342274.4	-	15	5261	c.4899G>A	c.(4897-4899)tcG>tcA	p.S1633S	BCOR_ENST00000378444.4_Silent_p.S1667S|BCOR_ENST00000397354.3_Silent_p.S1633S|BCOR_ENST00000378455.4_Silent_p.S1615S|BCOR_ENST00000378463.1_Silent_p.S510S	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1667					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TAAGGACATCCGAAAGCAGTA	0.403			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						3	37					0	0	1	0	0	T	39911629	C	T	39911629	2	4	103	1	0	0	0	0	0	0	0	1	1384	639	23	1		1	BCOR	23	39911629	Silent	SNP	C	TCGA-EJ-A65B-01A-12D-A30E-08	36338188	39911629	115358931	46	5385											
SMARCA1	6594	broad.mit.edu	37	chrX	128599549	128599549	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	atctaaactggggagcatttCgtacacactgtcttaattct	11	14	7	9	1	3	0	0	0	3	0	4	1	3	1	0	2	3	2	0	2	4	5			TCGA-EJ-A65B-01A-12D-A30E-08	TCGA-EJ-A65B-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf03c931-271d-477f-ba45-74d7d52ae213	8beb42cb-e084-42a5-89a2-8cf1f0810a67	g.chrX:128599549C>G	ENST00000371122.4	-	23	3107	c.2978G>C	c.(2977-2979)cGa>cCa	p.R993P	SMARCA1_ENST00000371123.1_Missense_Mutation_p.R981P|SMARCA1_ENST00000371121.3_Missense_Mutation_p.R981P	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	993	SANT 2.				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						GGGAGCATTTCGTACACACTG	0.338													21	48					0	0	1	0	0	G	128599549	C	G	128599549	3	3	103	1	0	0	0	0	1	0	0	0	14822	884	31	4	194	4	SMARCA1	23	128599549	Missense_Mutation	SNP	C	TCGA-EJ-A65B-01A-12D-A30E-08	88687920	128599549	26671011	47	5386											
CA6	765	broad.mit.edu	37	chr1	9011714	9011714	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcttcccaaggggcttgcagCggctcccgcctcccaatttc	5	9	10	17	2	0	0	0	0	0	0	4	0	3	0	4	3	2	4	4	3	2	3			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr1:9011714C>T	ENST00000319474.2	+	3	516	c.492C>T	c.(490-492)agC>agT	p.S164S	CA6_ENST00000377443.2_Intron|CA6_ENST00000476083.1_Intron|CA6_ENST00000377442.2_Intron|CA6_ENST00000377436.3_Intron			P23280	CAH6_HUMAN	carbonic anhydrase VI	43					one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)		GGGCTTGCAGCGGCTCCCGCC	0.577													17	26					0	0	1	0	0	T	9011714	C	T	9011714	2	4	104	1	0	0	0	0	0	0	0	1	2539	783	27	1		1	CA6	1	9011714	Silent	SNP	C	TCGA-EJ-A65D-01A-11D-A30E-08		9011714	240238907	1	5387											
CASZ1	54897	broad.mit.edu	37	chr1	10713951	10713952	+	Frame_Shift_Ins	INS	-	-	CTGGACTCCT																															agtcaacaaggtcgtcgttgINSctggactcctcgtgctccgt																										TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr1:10713951_10713952insCTGGACTCCT	ENST00000377022.3	-	11	2479_2480	c.2162_2163insAGGAGTCCAG	c.(2161-2163)aaafs	p.-721fs	RP4-734G22.3_ENST00000606802.1_RNA|CASZ1_ENST00000344008.5_Frame_Shift_Ins_p.-721fs	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GGTCGTCGTTGCTGGACTCCTC	0.683													14	75	---	---	---	---						CTGGACTCCT	10713952	-	CTGGACTCCT	10713951	7	5	104	1	0	1	1	0	0	0	0	0	2703	1310	46	0	3164	0	CASZ1	1	10713951	Frame_Shift_Ins	INS	-	TCGA-EJ-A65D-01A-11D-A30E-08	1702237	10713951	238536670	2	5388											
HNRNPCL1	343069	broad.mit.edu	37	chr1	12907828	12907828	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccaagtcaaaagaggagccGtacatctccgctgctgatcg	11	8	10	12	3	2	2	1	1	1	1	5	3	3	3	3	1	3	3	3	1	4	1			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr1:12907828G>A	ENST00000317869.6	-	2	540	c.315C>T	c.(313-315)taC>taT	p.Y105Y		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						AAGAGGAGCCGTACATCTCCG	0.493													45	104					0	0	1	0	0	A	12907828	G	A	12907828	2	1	104	1	0	0	0	0	0	0	0	1	7304	1140	40	1		1	HNRNPCL1	1	12907828	Silent	SNP	G	TCGA-EJ-A65D-01A-11D-A30E-08	2193877	12907828	236342793	3	5389											
TOE1	114034	broad.mit.edu	37	chr1	45808866	45808866	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggcgacggcgacgacgtaGggaaaaacggaagagggctt	12	3	18	8	7	0	1	0	0	0	1	0	6	0	3	0	5	1	2	0	5	4	2			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr1:45808866G>C	ENST00000372090.5	+	8	1608	c.1025G>C	c.(1024-1026)aGg>aCg	p.R342T	TOE1_ENST00000539779.1_Missense_Mutation_p.R262T|TOE1_ENST00000495703.1_3'UTR	NM_025077.3	NP_079353.3	Q96GM8	TOE1_HUMAN	target of EGR1, member 1 (nuclear)	342						nuclear speck|nucleolus	nucleic acid binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11	Acute lymphoblastic leukemia(166;0.155)					CGACGACGTAGGGAAAAACGG	0.562													124	119					0	0	1	0	0	C	45808866	G	C	45808866	3	2	104	1	0	0	0	0	1	0	0	0	16409	1000	35	4	1055	4	TOE1	1	45808866	Missense_Mutation	SNP	G	TCGA-EJ-A65D-01A-11D-A30E-08	32901038	45808866	203441755	4	5390											
NTRK1	4914	broad.mit.edu	37	chr1	156848943	156848943	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgatgccaagctgctggCtggtggggaggatgtggctc	6	9	17	9	0	0	1	0	1	0	0	1	3	0	3	2	6	3	4	2	6	1	0			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr1:156848943C>T	ENST00000368196.3	+	14	1937	c.1817C>T	c.(1816-1818)gCt>gTt	p.A606V	NTRK1_ENST00000524377.1_Missense_Mutation_p.A612V|NTRK1_ENST00000392302.2_Missense_Mutation_p.A576V|NTRK1_ENST00000358660.3_Missense_Mutation_p.A609V	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	612	Protein kinase.				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	AAGCTGCTGGCTGGTGGGGAG	0.637			T	"TPM3, TPR, TFG"	papillary thyroid					TSP Lung(10;0.080)			14	31					0	0	1	0	0	T	156848943	C	T	156848943	3	4	104	1	0	0	0	0	1	0	0	0	10754	797	28	2	2023	2	NTRK1	1	156848943	Missense_Mutation	SNP	C	TCGA-EJ-A65D-01A-11D-A30E-08	111040077	156848943	92401678	5	5391											
PLD5	200150	broad.mit.edu	37	chr1	242383349	242383349	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacacgtgctgtttgtccaCgatccagaaggaggactgca	11	9	11	10	2	0	1	0	0	0	1	2	4	2	3	2	2	3	3	2	2	2	2			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr1:242383349C>T	ENST00000442594.2	-	6	909	c.400G>A	c.(400-402)Gtg>Atg	p.V134M	PLD5_ENST00000536534.1_Missense_Mutation_p.V226M|PLD5_ENST00000427495.1_Missense_Mutation_p.V164M	NM_152666.2	NP_689879.2	Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	226						integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			TGTTTGTCCACGATCCAGAAG	0.527													4	76					0	0	1	0	0	T	242383349	C	T	242383349	3	4	104	1	0	0	0	0	1	0	0	0	12097	536	19	1	958	1	PLD5	1	242383349	Missense_Mutation	SNP	C	TCGA-EJ-A65D-01A-11D-A30E-08	85534406	242383349	6867272	6	5392											
EIF4E2	9470	broad.mit.edu	37	chr2	233431668	233431668	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttggggaggagatctgtgggGctgtggtgtctgtccgcttt	3	14	18	6	1	2	1	0	0	2	1	3	3	3	2	1	6	0	2	1	6	0	2			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr2:233431668G>C	ENST00000409514.1	+	5	547	c.505G>C	c.(505-507)Gct>Cct	p.A169P	EIF4E2_ENST00000409322.1_Missense_Mutation_p.A124P|EIF4E2_ENST00000409495.1_Missense_Mutation_p.A169P|EIF4E2_ENST00000258416.3_Missense_Mutation_p.A169P|EIF4E2_ENST00000409394.1_Missense_Mutation_p.A124P|EIF4E2_ENST00000409098.1_Missense_Mutation_p.A169P|EIF4E2_ENST00000409167.3_Missense_Mutation_p.A124P			O60573	IF4E2_HUMAN	eukaryotic translation initiation factor 4E family member 2	169					regulation of translation	cytoplasm|mRNA cap binding complex	RNA cap binding|translation initiation factor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;2.3e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000912)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GATCTGTGGGGCTGTGGTGTC	0.552													6	66					0	0	1	0	0	C	233431668	G	C	233431668	3	2	104	1	0	0	0	0	1	0	0	0	5058	1203	42	4	523	4	EIF4E2	2	233431668	Missense_Mutation	SNP	G	TCGA-EJ-A65D-01A-11D-A30E-08		233431668	9767705	7	5393											
XIRP1	165904	broad.mit.edu	37	chr3	39227360	39227360	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcccccaggctcctcccGccctggcccagtactctgac	5	6	9	21	1	1	1	0	1	1	0	3	1	3	1	6	2	2	3	6	2	1	1			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr3:39227360G>A	ENST00000340369.3	-	2	3805	c.3577C>T	c.(3577-3579)Cgg>Tgg	p.R1193W	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1193							actin binding	p.R1193W(1)		breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GGCTCCTCCCGCCCTGGCCCA	0.677													5	52					0	0	1	0	0	A	39227360	G	A	39227360	3	1	104	1	0	0	0	0	1	0	0	0	17489	1086	38	1	1958	1	XIRP1	3	39227360	Missense_Mutation	SNP	G	TCGA-EJ-A65D-01A-11D-A30E-08		39227360	158795070	8	5394											
CTNNB1	1499	broad.mit.edu	37	chr3	41266124	41266124	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaatccattctggtgccactAccacagctccttctctgagt	8	12	7	14	0	2	1	0	1	2	0	5	2	4	1	4	1	3	1	4	1	2	3	rs121913412		TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr3:41266124A>G	ENST00000349496.5	+	3	401	c.121A>G	c.(121-123)Acc>Gcc	p.T41A	CTNNB1_ENST00000405570.1_Missense_Mutation_p.T41A|CTNNB1_ENST00000396185.3_Missense_Mutation_p.T41A|CTNNB1_ENST00000453024.1_Missense_Mutation_p.T34A|CTNNB1_ENST00000396183.3_Missense_Mutation_p.T41A	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	41			T -> A (in hepatoblastoma and hepatocellular carcinoma; also in a desmoid tumor; strongly reduces phosphorylation and degradation; abolishes phosphorylation on Ser-33 and Ser-37 and enhances transactivation of target genes).|T -> I (in PTR, hepatocellular carcinoma and ovarian cancer).		adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.T41A(550)|p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.T41P(6)|p.Q28_H134del(5)|p.?(4)|p.W25_I140del(3)|p.T41S(3)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.T40_L46del(1)|p.A20_N141del(1)|p.T41_N51del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.I35_T41del(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.A39_T42del(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	TGGTGCCACTACCACAGCTCC	0.507	T41A(CCK81_LARGE_INTESTINE)	15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of				16	39					0	0	1	0	0	G	41266124	A	G	41266124	3	3	104	1	0	0	0	0	1	0	0	0	4040	391	14	3	127	3	CTNNB1	3	41266124	Missense_Mutation	SNP	A	TCGA-EJ-A65D-01A-11D-A30E-08	2038764	41266124	156756306	9	5395											
TRAK1	22906	broad.mit.edu	37	chr3	42230557	42230557	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tccagaattactttcatttgGattctcttcaaaagaagctg	12	15	6	8	0	3	2	2	0	1	2	5	3	4	3	1	1	2	1	1	1	5	5			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr3:42230557G>A	ENST00000327628.5	+	6	1031	c.631G>A	c.(631-633)Gat>Aat	p.D211N	TRAK1_ENST00000341421.3_Missense_Mutation_p.D153N|TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000396175.1_Missense_Mutation_p.D153N|TRAK1_ENST00000449246.1_Missense_Mutation_p.D137N	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	211	HAP1 N-terminal.				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CTTTCATTTGGATTCTCTTCA	0.498													5	44					0	0	1	0	0	A	42230557	G	A	42230557	3	1	104	1	0	0	0	0	1	0	0	0	16510	1174	41	2	769	2	TRAK1	3	42230557	Missense_Mutation	SNP	G	TCGA-EJ-A65D-01A-11D-A30E-08	964433	42230557	155791873	10	5396											
PROS1	5627	broad.mit.edu	37	chr3	93646150	93646150	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttctttattgcacagttcttCgatgcattctctttcaagat	8	19	5	9	1	4	1	1	0	3	1	6	2	4	1	0	0	2	3	0	0	2	8			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr3:93646150C>T	ENST00000394236.3	-	2	494	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K	PROS1_ENST00000407433.1_5'UTR	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	60	Gla.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	CACAGTTCTTCGATGCATTCT	0.408													32	36					0	0	1	0	0	T	93646150	C	T	93646150	3	4	104	1	0	0	0	0	1	0	0	0	12610	893	31	1	1908	1	PROS1	3	93646150	Missense_Mutation	SNP	C	TCGA-EJ-A65D-01A-11D-A30E-08	51415593	93646150	104376280	11	5397											
STXBP5L	9515	broad.mit.edu	37	chr3	120969598	120969598	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atggatcaataaaattttggGatgcttctgcaagtaagttt	13	15	9	4	0	2	0	1	0	1	0	2	2	2	2	0	2	2	4	0	2	5	6			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr3:120969598G>A	ENST00000273666.6	+	15	1700	c.1429G>A	c.(1429-1431)Gat>Aat	p.D477N	STXBP5L_ENST00000472879.1_Missense_Mutation_p.D477N|STXBP5L_ENST00000497029.1_Missense_Mutation_p.D477N|STXBP5L_ENST00000471454.1_Missense_Mutation_p.D477N|STXBP5L_ENST00000492541.1_Missense_Mutation_p.D477N	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	477					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AAAATTTTGGGATGCTTCTGC	0.289													9	9					0	0	1	0	0	A	120969598	G	A	120969598	3	1	104	1	0	0	0	0	1	0	0	0	15413	1174	41	2	1483	2	STXBP5L	3	120969598	Missense_Mutation	SNP	G	TCGA-EJ-A65D-01A-11D-A30E-08	27323448	120969598	77052832	12	5398											
PIK3CA	5290	broad.mit.edu	37	chr3	178916876	178916876	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attttttgatgaaacaagacGactttgtgaccttcggcttt	10	16	8	7	2	0	4	0	3	0	1	1	5	0	4	1	1	1	1	1	1	2	6	rs121913287		TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr3:178916876G>A	ENST00000263967.3	+	2	420	c.263G>A	c.(262-264)cGa>cAa	p.R88Q		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	88	PI3K-ABD.		R -> Q (in cancer; may disrupt the interaction between the PI3K-ABD domain and the N-terminal lobe of PI3K/PI4K kinase domain possibly affecting the conformation of the kinase domain).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.R88Q(53)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GAAACAAGACGACTTTGTGAC	0.363	R88Q(JHUEM1_ENDOMETRIUM)|R88Q(SKUT1_SOFT_TISSUE)|R88Q(SNGM_ENDOMETRIUM)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			53	58					0	0	1	0	0	A	178916876	G	A	178916876	3	1	104	1	0	0	0	0	1	0	0	0	11961	1058	37	1	265	1	PIK3CA	3	178916876	Missense_Mutation	SNP	G	TCGA-EJ-A65D-01A-11D-A30E-08	57947278	178916876	19105554	13	5399											
CCDC39	339829	broad.mit.edu	37	chr3	180359980	180359980	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttaaaagattgtcctctaTcatcaaatcctatcaacgta	14	15	3	9	1	4	1	3	0	1	1	6	1	6	1	2	0	1	1	2	0	7	6			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr3:180359980T>A	ENST00000273654.4	-	19	2546	c.1927A>T	c.(1927-1929)Ata>Tta	p.I643L	CCDC39_ENST00000442201.2_Missense_Mutation_p.I559L			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	559					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TTGTCCTCTATCATCAAATCC	0.279													7	14					0	0	1	0	0	A	180359980	T	A	180359980	3	1	104	1	0	0	0	0	1	0	0	0	2830	1435	50	5	1182	5	CCDC39	3	180359980	Missense_Mutation	SNP	T	TCGA-EJ-A65D-01A-11D-A30E-08	1443104	180359980	17662450	14	5400											
PCDHB6	0	broad.mit.edu	37	chr5	140531513	140531513	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaacgacaactcgcccttcGtgttgtacccgctgcagaac	9	8	8	16	4	0	1	0	0	0	1	2	2	0	1	3	0	5	4	3	0	4	3			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr5:140531513G>A	ENST00000231136.1	+	1	1675	c.1675G>A	c.(1675-1677)Gtg>Atg	p.V559M	PCDHB6_ENST00000543635.1_Missense_Mutation_p.V423M	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		559	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.V559M(1)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCGCCCTTCGTGTTGTACCC	0.721													96	79					0	0	1	0	0	A	140531513	G	A	140531513	3	1	104	1	0	0	0	0	1	0	0	0	11593	1145	40	1	1677	1	PCDHB6	5	140531513	Missense_Mutation	SNP	G	TCGA-EJ-A65D-01A-11D-A30E-08		140531513	40383747	15	5401											
SIM1	6492	broad.mit.edu	37	chr6	100895289	100895289	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtcacctgtcccttcaccaGcactgacggagagacaggag	10	6	12	13	1	2	2	2	1	0	1	3	5	3	4	3	3	1	1	3	3	0	1			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr6:100895289G>T	ENST00000369208.3	-	9	1635	c.853C>A	c.(853-855)Ctg>Atg	p.L285M	SIM1_ENST00000262901.4_Missense_Mutation_p.L285M			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	285	PAS 2.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CCCTTCACCAGCACTGACGGA	0.597													7	46					5.18039e-06	5.26673e-06	1	1	0	T	100895289	G	T	100895289	3	4	104	1	0	0	0	0	1	0	0	0	14378	962	34	4	1463	4	SIM1	6	100895289	Missense_Mutation	SNP	G	TCGA-EJ-A65D-01A-11D-A30E-08		100895289	70219778	16	5402											
PCLO	27445	broad.mit.edu	37	chr7	82544135	82544135	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggcttgatccaaactgatcCctggtgtctgcagatattgg	8	13	11	9	0	1	3	0	2	1	1	3	3	3	3	2	3	2	2	2	3	2	3			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr7:82544135C>T	ENST00000423517.2	-	7	13504	c.13167G>A	c.(13165-13167)agG>agA	p.R4389R	PCLO_ENST00000333891.8_Silent_p.R4389R|PCLO_ENST00000437081.1_Silent_p.R1109R	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4320					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						CAAACTGATCCCTGGTGTCTG	0.522													27	33					0	0	1	0	0	T	82544135	C	T	82544135	2	4	104	1	0	0	0	0	0	0	0	1	11630	622	22	2		2	PCLO	7	82544135	Silent	SNP	C	TCGA-EJ-A65D-01A-11D-A30E-08		82544135	76594528	17	5403											
ZAN	7455	broad.mit.edu	37	chr7	100345610	100345611	+	RNA	INS	-	-	AA																															ggcaatagagcaagactctgINSaaaaaaaaaaaaaaagaaag																								rs71686325		TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr7:100345610_100345611insAA	ENST00000542585.1	+	0	1171				ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			gcaagactctgaaaaaaaaaaa	0.505													3	3	---	---	---	---						AA	100345611	-	AA	100345610	6	5	104	0	1	1	1	0	0	0	0	0	17573	1305	45	0		0	ZAN	7	100345610	RNA	INS	-	TCGA-EJ-A65D-01A-11D-A30E-08	17801475	100345610	58793053	18	5404											
ADCY8	114	broad.mit.edu	37	chr8	131861907	131861907	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcaaagatgatgacgttccGggccaaataggtctcattaa	13	10	10	8	2	1	3	1	2	1	1	3	3	2	3	2	2	1	2	2	2	4	3			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr8:131861907G>A	ENST00000286355.5	-	10	4445	c.2353C>T	c.(2353-2355)Cgg>Tgg	p.R785W	ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	785					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			ATGACGTTCCGGGCCAAATAG	0.468										HNSCC(32;0.087)			22	52					0	0	1	0	0	A	131861907	G	A	131861907	3	1	104	1	0	0	0	0	1	0	0	0	299	1115	39	1	1438	1	ADCY8	8	131861907	Missense_Mutation	SNP	G	TCGA-EJ-A65D-01A-11D-A30E-08		131861907	14502115	19	5405											
OR5C1	392391	broad.mit.edu	37	chr9	125551979	125551979	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagccgtggccatgatgtaCgggacactcattttcatgta	10	11	10	10	2	2	1	2	1	0	0	2	2	2	2	2	2	2	2	2	2	2	4			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr9:125551979C>T	ENST00000373680.2	+	1	830	c.768C>T	c.(766-768)taC>taT	p.Y256Y		NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C, member 1	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						CCATGATGTACGGGACACTCA	0.602													4	124					0	0	1	0	0	T	125551979	C	T	125551979	2	4	104	1	0	0	0	0	0	0	0	1	11200	547	19	1		1	OR5C1	9	125551979	Silent	SNP	C	TCGA-EJ-A65D-01A-11D-A30E-08		125551979	15661452	20	5406											
DHTKD1	55526	broad.mit.edu	37	chr10	12131124	12131124	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccatgtgacaatgttgcccaAtccctcgcacctggaggccg	8	8	10	15	2	0	1	0	1	0	0	2	2	1	2	5	2	1	2	5	2	2	1			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr10:12131124A>G	ENST00000263035.4	+	5	919	c.857A>G	c.(856-858)aAt>aGt	p.N286S	DHTKD1_ENST00000465617.1_Intron	NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	286					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			ATGTTGCCCAATCCCTCGCAC	0.602													58	77					0	0	1	0	0	G	12131124	A	G	12131124	3	3	104	1	0	0	0	0	1	0	0	0	4528	101	4	3	875	3	DHTKD1	10	12131124	Missense_Mutation	SNP	A	TCGA-EJ-A65D-01A-11D-A30E-08		12131124	123403623	21	5407											
PRKG1	5592	broad.mit.edu	37	chr10	52834614	52834614	+	Frame_Shift_Del	DEL	C	C	-																															gagcccaccgccttcgacatCcaggatctcagccatgtgac																										TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr10:52834614delC	ENST00000373980.4	+	1	681	c.264delC	c.(262-264)atfs	p.I88fs	PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373985.1_Intron	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	74	Dimerization.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		CCTTCGACATCCAGGATCTCA	0.687													13	25	---	---	---	---						-	52834614	C	-	52834614	7	5	104	1	0	1	0	1	0	0	0	0	12574	845	30	0	536	0	PRKG1	10	52834614	Frame_Shift_Del	DEL	C	TCGA-EJ-A65D-01A-11D-A30E-08	40703490	52834614	82700133	22	5408											
PCDH15	65217	broad.mit.edu	37	chr10	55996666	55996666	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caatggcttggattggtggcGtaacaataatggggttcagt	10	12	14	5	1	1	0	1	0	0	0	1	1	1	1	0	6	1	3	0	6	4	5			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr10:55996666G>A	ENST00000373965.2	-	9	1296	c.902C>T	c.(901-903)aCg>aTg	p.T301M	PCDH15_ENST00000373957.3_Missense_Mutation_p.T279M|PCDH15_ENST00000395440.1_Missense_Mutation_p.T301M|PCDH15_ENST00000373955.1_Missense_Mutation_p.T301M|PCDH15_ENST00000395445.1_Missense_Mutation_p.T301M|PCDH15_ENST00000437009.1_Missense_Mutation_p.T301M|PCDH15_ENST00000395433.1_Missense_Mutation_p.T279M|PCDH15_ENST00000361849.3_Missense_Mutation_p.T301M|PCDH15_ENST00000320301.6_Missense_Mutation_p.T301M|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.T301M|PCDH15_ENST00000395432.2_Missense_Mutation_p.T264M|PCDH15_ENST00000395446.1_Missense_Mutation_p.T301M|PCDH15_ENST00000414778.1_Missense_Mutation_p.T306M|PCDH15_ENST00000395442.1_Missense_Mutation_p.T301M|PCDH15_ENST00000395430.1_Missense_Mutation_p.T301M	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	301	Cadherin 3.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.T306M(2)|p.T301M(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GATTGGTGGCGTAACAATAAT	0.403										HNSCC(58;0.16)			61	70					0	0	1	0	0	A	55996666	G	A	55996666	3	1	104	1	0	0	0	0	1	0	0	0	11558	1145	40	1	6709	1	PCDH15	10	55996666	Missense_Mutation	SNP	G	TCGA-EJ-A65D-01A-11D-A30E-08	3162052	55996666	79538081	23	5409											
PTEN	5728	broad.mit.edu	37	chr10	89653846	89653846	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttgaaggcgtatacaggaaCaatattgatgatgtagtaag	15	11	11	4	1	0	3	0	3	0	0	0	4	0	4	0	2	2	3	0	2	8	7			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr10:89653846C>A	ENST00000371953.3	+	2	1501	c.144C>A	c.(142-144)aaC>aaA	p.N48K		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	48	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(8)|p.Y27fs*1(2)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TATACAGGAACAATATTGATG	0.289		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			4	81					0.217242	0.217242	1	1	0	A	89653846	C	A	89653846	3	1	104	1	0	0	0	0	1	0	0	0	12787	477	17	4	150	4	PTEN	10	89653846	Missense_Mutation	SNP	C	TCGA-EJ-A65D-01A-11D-A30E-08	33657180	89653846	45880901	24	5410											
MUC5B	727897	broad.mit.edu	37	chr11	1263453	1263453	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accaccaccagccagggcacGacccgctgtcaaccgaagtg	11	3	10	17	3	1	0	1	0	0	0	1	2	1	0	6	1	2	2	6	1	2	0			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr11:1263453G>A	ENST00000447027.1	+	31	5410	c.5352G>A	c.(5350-5352)acG>acA	p.T1784T	MUC5B_ENST00000529681.1_Silent_p.T1781T			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1781	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCCAGGGCACGACCCGCTGTC	0.582													7	85					0	0	1	0	0	A	1263453	G	A	1263453	2	1	104	1	0	0	0	0	0	0	0	1	10027	1045	37	1		1	MUC5B	11	1263453	Silent	SNP	G	TCGA-EJ-A65D-01A-11D-A30E-08		1263453	133743063	25	5411											
OR51Q1	390061	broad.mit.edu	37	chr11	5444079	5444079	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtggatcctctgctcattGtgatctcctatacacttatt	7	17	6	11	1	3	1	1	1	2	0	6	2	4	2	2	1	2	1	2	1	3	5			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr11:5444079G>T	ENST00000300778.4	+	1	739	c.649G>T	c.(649-651)Gtg>Ttg	p.V217L	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTGCTCATTGTGATCTCCTA	0.493													7	168					2.0095e-06	2.07762e-06	1	1	0	T	5444079	G	T	5444079	3	4	104	1	0	0	0	0	1	0	0	0	11152	1377	48	4	651	4	OR51Q1	11	5444079	Missense_Mutation	SNP	G	TCGA-EJ-A65D-01A-11D-A30E-08	4180626	5444079	129562437	26	5412											
CD163L1	283316	broad.mit.edu	37	chr12	7531634	7531634	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtctgtttccactcccatcGtatacaatcccagagagagg	11	10	8	12	1	1	2	0	0	1	2	5	3	4	2	3	1	1	2	3	1	3	3			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr12:7531634G>A	ENST00000313599.3	-	9	2368	c.2311C>T	c.(2311-2313)Cga>Tga	p.R771*	CD163L1_ENST00000544331.1_5'UTR|CD163L1_ENST00000396630.1_Nonsense_Mutation_p.R771*|CD163L1_ENST00000416109.2_Nonsense_Mutation_p.R781*			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	771	SRCR 7.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	p.R771*(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CACTCCCATCGTATACAATCC	0.408													61	57					0	0	1	0	0	A	7531634	G	A	7531634	4	1	104	1	0	0	0	0	0	1	0	0	2990	1153	40	1	2094	1	CD163L1	12	7531634	Nonsense_Mutation	SNP	G	TCGA-EJ-A65D-01A-11D-A30E-08		7531634	126320261	27	5413											
ITGA7	3679	broad.mit.edu	37	chr12	56092320	56092320	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accccccagctcttcttggcGctcaaagaagtagggggcac	9	7	11	14	1	3	1	1	0	2	1	3	1	3	1	3	3	1	4	3	3	3	3			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr12:56092320G>A	ENST00000257880.7	-	8	1390	c.1171C>T	c.(1171-1173)Cgc>Tgc	p.R391C	ITGA7_ENST00000347027.6_Missense_Mutation_p.R347C|ITGA7_ENST00000257879.6_Missense_Mutation_p.R347C|ITGA7_ENST00000394229.2_Missense_Mutation_p.R347C|ITGA7_ENST00000555728.1_Missense_Mutation_p.R391C|ITGA7_ENST00000394230.2_Missense_Mutation_p.R351C|ITGA7_ENST00000553804.1_Missense_Mutation_p.R351C|ITGA7_ENST00000452168.2_Missense_Mutation_p.R254C			Q13683	ITA7_HUMAN	integrin, alpha 7	391					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TCTTCTTGGCGCTCAAAGAAG	0.612													47	62					0	0	1	0	0	A	56092320	G	A	56092320	3	1	104	1	0	0	0	0	1	0	0	0	7925	1087	38	1	2450	1	ITGA7	12	56092320	Missense_Mutation	SNP	G	TCGA-EJ-A65D-01A-11D-A30E-08	48560686	56092320	77759575	28	5414											
ZC3H10	84872	broad.mit.edu	37	chr12	56515289	56515289	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcattgcccagactcacactActctcagcagccaggctcta	10	8	7	16	0	3	1	2	0	2	1	4	1	3	1	2	1	4	3	2	1	2	3			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr12:56515289A>G	ENST00000257940.2	+	3	1219	c.943A>G	c.(943-945)Act>Gct	p.T315A	RP11-603J24.5_ENST00000550947.1_RNA|RP11-603J24.5_ENST00000549438.1_RNA	NM_032786.1	NP_116175.1	Q96K80	ZC3HA_HUMAN	zinc finger CCCH-type containing 10	315							nucleic acid binding|zinc ion binding			breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	11			OV - Ovarian serous cystadenocarcinoma(18;0.12)			GACTCACACTACTCTCAGCAG	0.597													26	26					0	0	1	0	0	G	56515289	A	G	56515289	3	3	104	1	0	0	0	0	1	0	0	0	17618	391	14	3	945	3	ZC3H10	12	56515289	Missense_Mutation	SNP	A	TCGA-EJ-A65D-01A-11D-A30E-08	422969	56515289	77336606	29	5415											
PSPC1	55269	broad.mit.edu	37	chr13	20325485	20325485	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccagtttctctttggcttctCtgatgtttctatcaacctgc	5	18	6	12	0	4	1	1	1	3	0	6	1	4	1	2	1	2	3	2	1	2	5			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr13:20325485C>T	ENST00000338910.4	-	4	1052	c.893G>A	c.(892-894)aGa>aAa	p.R298K		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	298	Sufficient for paraspeckles localization.|Sufficient for perinucleolar caps localization and interaction with NONO.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		TTTGGCTTCTCTGATGTTTCT	0.418													11	210					0	0	1	0	0	T	20325485	C	T	20325485	3	4	104	1	0	0	0	0	1	0	0	0	12765	913	32	2	702	2	PSPC1	13	20325485	Missense_Mutation	SNP	C	TCGA-EJ-A65D-01A-11D-A30E-08		20325485	94844393	30	5416											
WDR72	256764	broad.mit.edu	37	chr15	53889439	53889439	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatgtgttgttgaacttcCgccaagagaacagcttgtat	10	14	9	8	1	1	2	1	1	0	1	2	3	2	2	2	0	3	4	2	0	4	6			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr15:53889439C>T	ENST00000396328.1	-	18	3224	c.2985G>A	c.(2983-2985)gcG>gcA	p.A995A	WDR72_ENST00000559418.1_Silent_p.A1005A|WDR72_ENST00000557913.1_Silent_p.A992A|WDR72_ENST00000360509.5_Silent_p.A995A	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	995										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		GTTGAACTTCCGCCAAGAGAA	0.378													72	106					0	0	1	0	0	T	53889439	C	T	53889439	2	4	104	1	0	0	0	0	0	0	0	1	17382	639	23	1		1	WDR72	15	53889439	Silent	SNP	C	TCGA-EJ-A65D-01A-11D-A30E-08		53889439	48641953	31	5417											
UNC13C	440279	broad.mit.edu	37	chr15	54804028	54804028	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaatccatgggagggaaggaGgtgggtatctttttctccta	9	12	14	6	0	2	0	0	0	2	0	4	4	3	3	2	5	0	1	2	5	4	4			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr15:54804028G>A	ENST00000545554.1	+	23	5457	c.5457_splice	c.e23+1	p.E1819_splice	UNC13C_ENST00000260323.11_Splice_Site_p.E1819_splice|UNC13C_ENST00000537900.1_Splice_Site_p.E1817_splice			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1819					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GAGGGAAGGAGGTGGGTATCT	0.353													7	8					0	0	1	0	0	A	54804028	G	A	54804028	5	1	104	1	0	0	0	0	0	0	1	0	17046	1014	35	2	5543	2	UNC13C	15	54804028	Splice_Site	SNP	G	TCGA-EJ-A65D-01A-11D-A30E-08	914589	54804028	47727364	32	5418											
KREMEN2	79412	broad.mit.edu	37	chr16	3014524	3014524	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatccttggttgagagcgatGgggacacaagccctgcaggg	9	8	15	9	1	0	1	0	1	0	1	1	4	1	2	2	4	3	2	2	4	2	3			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr16:3014524G>A	ENST00000572045.1	+	1	308	c.3G>A	c.(1-3)atG>atA	p.M1I	KREMEN2_ENST00000575769.1_Start_Codon_SNP_p.M1I|KREMEN2_ENST00000575885.1_Start_Codon_SNP_p.M1I|KREMEN2_ENST00000571007.1_Start_Codon_SNP_p.M1I|KREMEN2_ENST00000319500.6_Start_Codon_SNP_p.M1I|KREMEN2_ENST00000303746.5_Start_Codon_SNP_p.M1I	NM_172229.2	NP_757384.1	Q8NCW0	KREM2_HUMAN	kringle containing transmembrane protein 2	1					Wnt receptor signaling pathway	integral to membrane				central_nervous_system(2)|endometrium(1)|large_intestine(1)	4						TGAGAGCGATGGGGACACAAG	0.687													36	54					0	0	1	0	0	A	3014524	G	A	3014524	1	1	104	1	0	0	0	0	0	0	0	0	8486	1348	47	2		2	KREMEN2	16	3014524	Translation_Start_Site	SNP	G	TCGA-EJ-A65D-01A-11D-A30E-08		3014524	87340229	33	5419											
PRPF8	10594	broad.mit.edu	37	chr17	1560049	1560049	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcctcagctgtcttccactTagccaacttaaaagcaagag	12	10	6	13	0	2	1	1	0	1	1	4	1	4	1	3	0	4	2	3	0	5	3			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr17:1560049T>C	ENST00000572621.1	-	34	5777	c.5512A>G	c.(5512-5514)Aag>Gag	p.K1838E	PRPF8_ENST00000304992.6_Missense_Mutation_p.K1838E			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1838	Involved in interaction with pre-mRNA 5' splice site.					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GTCTTCCACTTAGCCAACTTA	0.483													4	29					0	0	1	0	0	C	1560049	T	C	1560049	3	2	104	1	0	0	0	0	1	0	0	0	12627	1763	61	3	1531	3	PRPF8	17	1560049	Missense_Mutation	SNP	T	TCGA-EJ-A65D-01A-11D-A30E-08		1560049	79635161	34	5420											
TNFRSF13B	23495	broad.mit.edu	37	chr17	16843774	16843774	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacaggcagagccccagcGtgctgtagaccagggccacc	10	3	12	16	1	0	2	0	0	0	2	0	2	0	2	5	2	3	3	5	2	1	1			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr17:16843774G>A	ENST00000437538.2	-	3	367	c.359C>T	c.(358-360)aCg>aTg	p.T120M	TNFRSF13B_ENST00000579315.1_Intron|TNFRSF13B_ENST00000583789.1_Missense_Mutation_p.T120M|TNFRSF13B_ENST00000261652.2_Missense_Mutation_p.T166M			O14836	TR13B_HUMAN	tumor necrosis factor receptor superfamily, member 13B	166					cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						GAGCCCCAGCGTGCTGTAGAC	0.642									IgA Deficiency, Selective				25	31					0	0	1	0	0	A	16843774	G	A	16843774	3	1	104	1	0	0	0	0	1	0	0	0	16347	1145	40	1	392	1	TNFRSF13B	17	16843774	Missense_Mutation	SNP	G	TCGA-EJ-A65D-01A-11D-A30E-08	15283725	16843774	64351436	35	5421											
ACACA	31	broad.mit.edu	37	chr17	35470086	35470086	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaggagtcaatcaccaccCaggagccaccccgcagctca	11	4	10	16	1	3	0	3	0	0	0	3	3	3	3	5	3	2	2	5	3	1	0			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr17:35470086C>A	ENST00000353139.5	-	51	6870	c.6389G>T	c.(6388-6390)tGg>tTg	p.W2130L	ACACA_ENST00000361253.5_Missense_Mutation_p.W219L|ACACA_ENST00000394406.2_Missense_Mutation_p.W2093L|ACACA_ENST00000360679.3_Missense_Mutation_p.W2035L|ACACA_ENST00000335166.5_Missense_Mutation_p.W2015L	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	2093	Carboxyltransferase.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	AATCACCACCCAGGAGCCACC	0.557													26	42					5.45024e-15	6.04481e-15	1	1	0	A	35470086	C	A	35470086	3	1	104	1	0	0	0	0	1	0	0	0	106	595	21	4	786	4	ACACA	17	35470086	Missense_Mutation	SNP	C	TCGA-EJ-A65D-01A-11D-A30E-08	18626312	35470086	45725124	36	5422											
KRT39	390792	broad.mit.edu	37	chr17	39119985	39119985	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cattcaggatctgcttgaggCcattggcatctgactctacc	8	12	9	12	0	4	2	1	2	3	0	4	3	4	3	2	3	2	2	2	3	1	4			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr17:39119985C>T	ENST00000355612.2	-	3	637	c.602G>A	c.(601-603)gGc>gAc	p.G201D	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	201	Coil 1B.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				CTGCTTGAGGCCATTGGCATC	0.502													4	101					0	0	1	0	0	T	39119985	C	T	39119985	3	4	104	1	0	0	0	0	1	0	0	0	8519	739	26	2	893	2	KRT39	17	39119985	Missense_Mutation	SNP	C	TCGA-EJ-A65D-01A-11D-A30E-08	3649899	39119985	42075225	37	5423											
PCYT2	5833	broad.mit.edu	37	chr17	79865686	79865686	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttggttaccagcagcatgCggcccacgaggtctgtggtg	6	10	14	11	2	1	0	0	0	1	0	1	1	1	0	2	4	4	3	2	4	1	2			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr17:79865686C>T	ENST00000538936.2	-	5	563	c.455G>A	c.(454-456)cGc>cAc	p.R152H	PCYT2_ENST00000570388.1_Missense_Mutation_p.R74H|PCYT2_ENST00000570391.1_Missense_Mutation_p.R120H|PCYT2_ENST00000538721.2_Missense_Mutation_p.R152H|PCYT2_ENST00000571105.1_Missense_Mutation_p.R152H|PCYT2_ENST00000331285.3_Missense_Mutation_p.R74H	NM_001256435.1|NM_002861.3	NP_001243364.1|NP_002852.1	Q99447	PCY2_HUMAN	phosphate cytidylyltransferase 2, ethanolamine	152	Catalytic 1 (Potential).				phospholipid biosynthetic process		ethanolamine-phosphate cytidylyltransferase activity			breast(2)|endometrium(1)|lung(4)|ovary(1)	8	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CAGCAGCATGCGGCCCACGAG	0.652													4	61					0	0	1	0	0	T	79865686	C	T	79865686	3	4	104	1	0	0	0	0	1	0	0	0	11659	768	27	1	808	1	PCYT2	17	79865686	Missense_Mutation	SNP	C	TCGA-EJ-A65D-01A-11D-A30E-08	40745701	79865686	1329524	38	5424											
DLGAP1	9229	broad.mit.edu	37	chr18	3879237	3879237	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgagcgtggaggaccaggCgctcttcttcagcagcgggg	6	7	18	10	3	3	1	1	1	2	0	3	3	3	3	1	6	3	2	1	6	0	2	rs113585667		TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr18:3879237C>T	ENST00000315677.3	-	4	1427	c.832G>A	c.(832-834)Gcc>Acc	p.A278T	DLGAP1_ENST00000515196.2_Missense_Mutation_p.A278T|DLGAP1_ENST00000581527.1_Missense_Mutation_p.A278T|DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000584874.1_Missense_Mutation_p.A278T	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	278					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GAGGACCAGGCGCTCTTCTTC	0.652													43	44					0	0	1	0	0	T	3879237	C	T	3879237	3	4	104	1	0	0	0	0	1	0	0	0	4587	768	27	1	2196	1	DLGAP1	18	3879237	Missense_Mutation	SNP	C	TCGA-EJ-A65D-01A-11D-A30E-08		3879237	74198011	39	5425											
GSK3A	2931	broad.mit.edu	37	chr19	42738561	42738561	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctctggggcccggtagtagCgagaacagatgtaggagaca	11	6	16	8	2	1	3	0	0	1	3	1	5	1	3	1	4	2	4	1	4	4	3			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr19:42738561C>T	ENST00000398249.4	-	5	2315	c.602G>A	c.(601-603)cGc>cAc	p.R201H	GSK3A_ENST00000222330.3_Missense_Mutation_p.R283H			P49840	GSK3A_HUMAN	glycogen synthase kinase 3 alpha	283	Protein kinase.				insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of insulin receptor signaling pathway|negative regulation of transferase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process	beta-catenin destruction complex|cytosol	ATP binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|tau-protein kinase activity			endometrium(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	19		Prostate(69;0.00682)				CCGGTAGTAGCGAGAACAGAT	0.587													5	91					0	0	1	0	0	T	42738561	C	T	42738561	3	4	104	1	0	0	0	0	1	0	0	0	6864	768	27	1	627	1	GSK3A	19	42738561	Missense_Mutation	SNP	C	TCGA-EJ-A65D-01A-11D-A30E-08		42738561	16390422	40	5426											
INPP5J	27124	broad.mit.edu	37	chr22	31530082	31530082	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggttccctgggcttgccctaCggccctcatcccgtgaacgc	4	9	11	17	3	1	1	1	1	0	0	3	1	3	1	4	3	3	2	4	3	2	3			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chr22:31530082C>T	ENST00000331075.5	+	13	2747	c.2698C>T	c.(2698-2700)Cgg>Tgg	p.R900W	INPP5J_ENST00000402238.1_Missense_Mutation_p.R239W|INPP5J_ENST00000400294.2_Missense_Mutation_p.R533W|INPP5J_ENST00000401755.1_Missense_Mutation_p.R265W|INPP5J_ENST00000412277.2_Missense_Mutation_p.R833W|INPP5J_ENST00000405300.1_Missense_Mutation_p.R533W|INPP5J_ENST00000404390.3_Missense_Mutation_p.R532W|INPP5J_ENST00000404453.1_Missense_Mutation_p.R265W			Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	900	Ser-rich.					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						GCTTGCCCTACGGCCCTCATC	0.692													4	4					0	0	1	0	0	T	31530082	C	T	31530082	3	4	104	1	0	0	0	0	1	0	0	0	7803	527	19	1	1644	1	INPP5J	22	31530082	Missense_Mutation	SNP	C	TCGA-EJ-A65D-01A-11D-A30E-08		31530082	19774484	41	5427											
CACNA1F	778	broad.mit.edu	37	chrX	49069198	49069198	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgagaagcttgaccagccGcataactcggaagaggcgaa	14	5	12	10	3	0	3	0	2	0	2	1	6	0	4	2	2	3	2	2	2	4	2			TCGA-EJ-A65D-01A-11D-A30E-08	TCGA-EJ-A65D-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	955a7101-36b0-4d1d-bd5b-0ab6e3adba5b	aa7b8960-9246-483f-a43b-9366501ee804	g.chrX:49069198G>A	ENST00000376265.2	-	33	3965	c.3904C>T	c.(3904-3906)Cgg>Tgg	p.R1302W	CACNA1F_ENST00000323022.5_Missense_Mutation_p.R1291W|CACNA1F_ENST00000376251.1_Missense_Mutation_p.R1237W	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1302					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	TTGACCAGCCGCATAACTCGG	0.522													3	8					0	0	1	0	0	A	49069198	G	A	49069198	3	1	104	1	0	0	0	0	1	0	0	0	2561	1086	38	1	2093	1	CACNA1F	23	49069198	Missense_Mutation	SNP	G	TCGA-EJ-A65D-01A-11D-A30E-08		49069198	106201362	42	5428											
GNB1	2782	broad.mit.edu	37	chr1	1722002	1722002	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgtgtccggtaaacgtggtCgtctgctggccggtctcgat	4	12	15	10	5	2	0	0	0	2	0	5	1	3	0	2	4	2	2	2	4	2	1			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr1:1722002C>T	ENST00000378609.4	-	9	862	c.531G>A	c.(529-531)acG>acA	p.T177T		NM_002074.3	NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1	177					cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|GTPase binding|signal transducer activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		TAAACGTGGTCGTCTGCTGGC	0.542													12	35					0	0	1	0	0	T	1722002	C	T	1722002	2	4	105	1	0	0	0	0	0	0	0	1	6557	871	31	1		1	GNB1	1	1722002	Silent	SNP	C	TCGA-EJ-A65E-01A-11D-A29Q-08		1722002	247528619	1	5429											
KANK4	163782	broad.mit.edu	37	chr1	62718880	62718880	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggtccacattgcagacGcctgcaagagaagcaatggg	12	7	13	9	1	0	3	0	1	0	2	1	4	1	3	2	2	3	3	2	2	3	1	rs148060294	byFrequency	TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr1:62718880G>T	ENST00000371153.4	-	8	2919	c.2539_splice	c.e8-1	p.G847_splice	KANK4_ENST00000354381.3_Splice_Site_p.G219_splice|KANK4_ENST00000317477.4_5'UTR|KANK4_ENST00000371150.1_Splice_Site_p.G203_splice	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	847										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						CATTGCAGACGCCTGCAAGAG	0.537													5	64					0.014758	0.0151224	1	1	0	T	62718880	G	T	62718880	5	4	105	1	0	0	0	0	0	0	1	0	8023	1101	38	4	458	4	KANK4	1	62718880	Splice_Site	SNP	G	TCGA-EJ-A65E-01A-11D-A29Q-08	60996878	62718880	186531741	2	5430											
ADORA3	140	broad.mit.edu	37	chr1	112042634	112042634	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggatggcagaccacacaagCtttgaggatcaaaaggtagg	14	6	14	7	0	1	2	1	1	0	1	1	4	1	4	1	5	1	3	1	5	4	2			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr1:112042634C>A	ENST00000241356.4	-	2	1300	c.895G>T	c.(895-897)Gct>Tct	p.A299S	ADORA3_ENST00000369717.4_Intron|ADORA3_ENST00000369716.4_Intron	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor	299					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled	p.A299T(1)		NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	ACCACACAAGCTTTGAGGATC	0.438													23	35					1.87028e-06	2.01602e-06	1	1	0	A	112042634	C	A	112042634	3	1	105	1	0	0	0	0	1	0	0	0	328	797	28	4	779	4	ADORA3	1	112042634	Missense_Mutation	SNP	C	TCGA-EJ-A65E-01A-11D-A29Q-08	49323754	112042634	137207987	3	5431											
TXNIP	10628	broad.mit.edu	37	chr1	145441198	145441198	+	Missense_Mutation	SNP	C	C	T																															tttaggtggatccctgcatcCtcaacaacaatgtgcagtga																										TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr1:145441198C>T	ENST00000369317.4	+	8	1490	c.1156C>T	c.(1156-1158)Ctc>Ttc	p.L386F	TXNIP_ENST00000475171.1_3'UTR	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	386					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCCCTGCATCCTCAACAACAA	0.393													15	24					0	0	1	0	0	T	145441198	C	T	145441198	3	4	105	1	0	0	0	0	1	0	0	0	16865	681	24	2	1186	2	TXNIP	1	145441198	Missense_Mutation	SNP	C	TCGA-EJ-A65E-01A-11D-A29Q-08	33398564	145441198	103809423	4	5432	28	2									
TXNIP	10628	broad.mit.edu	37	chr1	145441200	145441200	+	Silent	SNP	C	C	T																															taggtggatccctgcatcctCaacaacaatgtgcagtgagc																										TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr1:145441200C>T	ENST00000369317.4	+	8	1492	c.1158C>T	c.(1156-1158)ctC>ctT	p.L386L	TXNIP_ENST00000475171.1_3'UTR	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	386					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding	p.N389delN(1)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCTGCATCCTCAACAACAATG	0.393													14	24					0	0	1	0	0	T	145441200	C	T	145441200	2	4	105	1	0	0	0	0	0	0	0	1	16865	813	29	2		2	TXNIP	1	145441200	Silent	SNP	C	TCGA-EJ-A65E-01A-11D-A29Q-08	2	145441200	103809421	5	5433	28	2									
OR10J3	441911	broad.mit.edu	37	chr1	159283812	159283812	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cataggagataaagaccaggCccataggtagaacaaggaca	18	4	11	8	0	0	3	0	0	0	3	0	5	0	4	2	4	1	1	2	4	7	4			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr1:159283812C>G	ENST00000332217.5	-	1	637	c.638G>C	c.(637-639)gGc>gCc	p.G213A		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					AAAGACCAGGCCCATAGGTAG	0.502													44	81					0	0	1	0	0	G	159283812	C	G	159283812	3	3	105	1	0	0	0	0	1	0	0	0	10959	739	26	4	353	4	OR10J3	1	159283812	Missense_Mutation	SNP	C	TCGA-EJ-A65E-01A-11D-A29Q-08	13842612	159283812	89966809	6	5434											
GPA33	10223	broad.mit.edu	37	chr1	167024285	167024285	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcagtagatgatgatgccaAtgataatgagggctgcaacc	14	8	12	7	0	0	5	0	4	0	1	0	5	0	5	2	1	4	4	2	1	4	2			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr1:167024285A>G	ENST00000367868.3	-	6	1098	c.755T>C	c.(754-756)aTt>aCt	p.I252T	GPA33_ENST00000527955.1_5'UTR|RP11-102C16.3_ENST00000417644.1_RNA	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN	glycoprotein A33 (transmembrane)	252						integral to plasma membrane	receptor activity			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						GATGATGCCAATGATAATGAG	0.582													34	74					0	0	1	0	0	G	167024285	A	G	167024285	3	3	105	1	0	0	0	0	1	0	0	0	6626	101	4	3	212	3	GPA33	1	167024285	Missense_Mutation	SNP	A	TCGA-EJ-A65E-01A-11D-A29Q-08	7740473	167024285	82226336	7	5435											
SLC26A9	115019	broad.mit.edu	37	chr1	205897957	205897957	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggccacctggactcacccGcgttggatttctcccacgat	6	10	10	15	3	2	0	1	0	1	0	3	3	2	2	4	3	0	1	4	3	0	2			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr1:205897957G>A	ENST00000367135.3	-	8	1064	c.951C>T	c.(949-951)cgC>cgT	p.R317R	SLC26A9_ENST00000340781.4_Silent_p.R317R|SLC26A9_ENST00000367134.2_Silent_p.R317R	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	317						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			GGACTCACCCGCGTTGGATTT	0.577													15	39					0	0	1	0	0	A	205897957	G	A	205897957	2	1	105	1	0	0	0	0	0	0	0	1	14579	1074	38	1		1	SLC26A9	1	205897957	Silent	SNP	G	TCGA-EJ-A65E-01A-11D-A29Q-08	38873672	205897957	43352664	8	5436											
OTOF	9381	broad.mit.edu	37	chr2	26717923	26717923	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcccaccagctgccgggcctCgatcaccgtgatgctgacct	6	7	11	17	3	1	2	1	2	0	0	2	3	1	2	6	1	3	2	6	1	0	0			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr2:26717923C>T	ENST00000272371.2	-	9	910	c.784G>A	c.(784-786)Gag>Aag	p.E262K	OTOF_ENST00000403946.3_Missense_Mutation_p.E262K	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	262	C2 1.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCCGGGCCTCGATCACCGTG	0.632													10	49					0	0	1	0	0	T	26717923	C	T	26717923	3	4	105	1	0	0	0	0	1	0	0	0	11350	893	31	1	5690	1	OTOF	2	26717923	Missense_Mutation	SNP	C	TCGA-EJ-A65E-01A-11D-A29Q-08		26717923	216481450	9	5437											
THADA	63892	broad.mit.edu	37	chr2	43625211	43625211	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtattaggaatgtgatctaTcataacaaatgggaccaagg	15	10	11	5	0	2	1	1	1	1	0	2	3	2	3	1	4	1	1	1	4	7	4			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr2:43625211T>C	ENST00000405006.4	-	29	4477	c.4126A>G	c.(4126-4128)Ata>Gta	p.I1376V	THADA_ENST00000485353.1_5'UTR|THADA_ENST00000415080.2_Missense_Mutation_p.I1057V|THADA_ENST00000405975.2_Missense_Mutation_p.I1376V|THADA_ENST00000330266.7_Intron	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1376							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				ATGTGATCTATCATAACAAAT	0.478													32	75					0	0	1	0	0	C	43625211	T	C	43625211	3	2	105	1	0	0	0	0	1	0	0	0	15900	1435	50	3	1775	3	THADA	2	43625211	Missense_Mutation	SNP	T	TCGA-EJ-A65E-01A-11D-A29Q-08	16907288	43625211	199574162	10	5438											
SLC4A10	57282	broad.mit.edu	37	chr2	162804174	162804174	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtctgtgatcctgttcttTtccacagttactctgtcagc	5	17	8	11	0	4	1	1	1	3	0	6	1	6	1	2	1	2	2	2	1	1	4			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr2:162804174T>C	ENST00000375514.5	+	17	2432	c.2145T>C	c.(2143-2145)ttT>ttC	p.F715F	SLC4A10_ENST00000415876.2_Silent_p.F704F|SLC4A10_ENST00000446997.1_Silent_p.F734F|SLC4A10_ENST00000272716.5_Silent_p.F704F|SLC4A10_ENST00000421911.1_Silent_p.F734F	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	734					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TCCTGTTCTTTTCCACAGTTA	0.413													31	88					0	0	1	0	0	C	162804174	T	C	162804174	2	2	105	1	0	0	0	0	0	0	0	1	14706	1838	64	3		3	SLC4A10	2	162804174	Silent	SNP	T	TCGA-EJ-A65E-01A-11D-A29Q-08	119178963	162804174	80395199	11	5439											
TMEM45A	55076	broad.mit.edu	37	chr3	100287665	100287665	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctttttgttctaaattacaGattggatttgtcctgtatcc	8	19	7	7	0	1	1	0	0	1	1	3	2	3	2	2	1	1	3	2	1	4	8			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr3:100287665G>C	ENST00000403410.1	+	7	1256		c.e7-1		TMEM45A_ENST00000323523.4_Splice_Site			Q9NWC5	TM45A_HUMAN	transmembrane protein 45A							integral to membrane				breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)	11						CTAAATTACAGATTGGATTTG	0.348													13	47					0	0	1	0	0	C	100287665	G	C	100287665	5	2	105	1	0	0	0	0	0	0	1	0	16229	956	33	4	602	4	TMEM45A	3	100287665	Splice_Site	SNP	G	TCGA-EJ-A65E-01A-11D-A29Q-08		100287665	97734765	12	5440											
DIRC2	84925	broad.mit.edu	37	chr3	122552285	122552285	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcggagaagcgtttgtagAttattaaggtaaatatactg	14	14	10	3	2	0	2	0	0	0	2	1	3	0	2	0	2	2	3	0	2	9	8			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr3:122552285A>C	ENST00000261038.5	+	4	1223	c.825A>C	c.(823-825)agA>agC	p.R275S		NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	275					transport	integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		GCGTTTGTAGATTATTAAGGT	0.398													30	55					0	0	1	0	0	C	122552285	A	C	122552285	3	2	105	1	0	0	0	0	1	0	0	0	4562	330	12	5	839	5	DIRC2	3	122552285	Missense_Mutation	SNP	A	TCGA-EJ-A65E-01A-11D-A29Q-08	22264620	122552285	75470145	13	5441											
SLC22A7	10864	broad.mit.edu	37	chr6	43267187	43267187	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtccactttcttcttcgcCggtgtgctggtgggggctgt	1	14	15	11	3	2	0	0	0	2	0	4	0	3	0	2	4	1	2	2	4	0	3			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr6:43267187C>T	ENST00000372585.5	+	3	554	c.459C>T	c.(457-459)gcC>gcT	p.A153A	SLC22A7_ENST00000372574.3_Silent_p.A151A|SLC22A7_ENST00000487175.1_3'UTR|SLC22A7_ENST00000372589.3_Silent_p.A151A	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	153						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			TCTTCTTCGCCGGTGTGCTGG	0.562													28	61					0	0	1	0	0	T	43267187	C	T	43267187	2	4	105	1	0	0	0	0	0	0	0	1	14514	639	23	1		1	SLC22A7	6	43267187	Silent	SNP	C	TCGA-EJ-A65E-01A-11D-A29Q-08		43267187	127847880	14	5442											
SYNE1	23345	broad.mit.edu	37	chr6	152647580	152647580	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggctgtggagctcctccagGttactatggaactgatcctc	8	11	11	11	0	0	1	0	1	0	0	4	3	3	3	3	4	3	3	3	4	3	2			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr6:152647580G>A	ENST00000367255.5	-	79	15745	c.15144C>T	c.(15142-15144)aaC>aaT	p.N5048N	SYNE1_ENST00000265368.4_Silent_p.N5048N|SYNE1_ENST00000448038.1_Silent_p.N4977N|SYNE1_ENST00000423061.1_Silent_p.N4977N|SYNE1_ENST00000341594.5_Silent_p.N4795N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5048					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCTCCTCCAGGTTACTATGGA	0.512										HNSCC(10;0.0054)			19	42					0	0	1	0	0	A	152647580	G	A	152647580	2	1	105	1	0	0	0	0	0	0	0	1	15502	1252	44	2		2	SYNE1	6	152647580	Silent	SNP	G	TCGA-EJ-A65E-01A-11D-A29Q-08	109380393	152647580	18467487	15	5443											
SYNJ2	8871	broad.mit.edu	37	chr6	158510938	158510938	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaaccaccaatgcccaggAggcagaagcagcaatccggt	15	3	10	13	1	0	1	0	0	0	1	1	2	1	2	4	3	4	3	4	3	5	0			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr6:158510938A>T	ENST00000355585.4	+	25	3599	c.3524A>T	c.(3523-3525)gAg>gTg	p.E1175V	SYNJ2_ENST00000367121.3_Missense_Mutation_p.E1175V|SYNJ2_ENST00000367122.2_Missense_Mutation_p.E1130V|SYNJ2_ENST00000367112.1_Missense_Mutation_p.E260V	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1175							nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		AATGCCCAGGAGGCAGAAGCA	0.493													3	15					0	0	1	0	0	T	158510938	A	T	158510938	3	4	105	1	0	0	0	0	1	0	0	0	15510	304	11	5	3622	5	SYNJ2	6	158510938	Missense_Mutation	SNP	A	TCGA-EJ-A65E-01A-11D-A29Q-08	5863358	158510938	12604129	16	5444											
RELN	5649	broad.mit.edu	37	chr7	103341383	103341383	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctctagctgaatccagtcCgcagagttattcttggcata	9	14	8	10	1	2	2	0	1	2	1	5	2	4	2	2	1	1	4	2	1	4	6			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr7:103341383C>T	ENST00000428762.1	-	9	1035	c.876G>A	c.(874-876)gcG>gcA	p.A292A	RELN_ENST00000343529.5_Silent_p.A292A|RELN_ENST00000424685.2_Silent_p.A292A	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	292					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GAATCCAGTCCGCAGAGTTAT	0.358													12	58					0	0	1	0	0	T	103341383	C	T	103341383	2	4	105	1	0	0	0	0	0	0	0	1	13272	639	23	1		1	RELN	7	103341383	Silent	SNP	C	TCGA-EJ-A65E-01A-11D-A29Q-08		103341383	55797280	17	5445											
BRAF	673	broad.mit.edu	37	chr7	140481402	140481402	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	actttcccttgtagactgttCcaaatgatccagatccaatt	11	14	5	11	0	0	3	0	1	0	2	4	3	4	3	4	0	0	2	4	0	3	5	rs121913358		TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr7:140481402C>G	ENST00000288602.6	-	11	1466	c.1406G>C	c.(1405-1407)gGa>gCa	p.G469A		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	469	Protein kinase.		G -> A (in NHL; also in a lung adenocarcinoma sample; somatic mutation; elevated kinase activity; efficiently induces cell transformation).|G -> E (in CFC syndrome and colon cancer).|G -> R (in NHL).|G -> V (in a colorectal adenocarcinoma sample; somatic mutation).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.G469A(19)|p.G469V(13)|p.G469S(5)|p.G469E(5)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	GTAGACTGTTCCAAATGATCC	0.373	G469A(NCIH1395_LUNG)|G469A(NCIH1755_LUNG)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				23	84					0	0	1	0	0	G	140481402	C	G	140481402	3	3	105	1	0	0	0	0	1	0	0	0	1498	855	30	4	926	4	BRAF	7	140481402	Missense_Mutation	SNP	C	TCGA-EJ-A65E-01A-11D-A29Q-08	37140019	140481402	18657261	18	5446											
PTPRN2	5799	broad.mit.edu	37	chr7	158380277	158380277	+	Frame_Shift_Del	DEL	G	G	-																															ccccgggagctgccggccgcGggggacggacgaaggggcgg																										TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr7:158380277delG	ENST00000389413.3	-	1	188	c.85delC	c.(85-87)gcfs	p.R29fs	PTPRN2_ENST00000389418.4_Frame_Shift_Del_p.R29fs|PTPRN2_ENST00000409483.1_Frame_Shift_Del_p.R29fs|PTPRN2_ENST00000389416.4_Frame_Shift_Del_p.R29fs	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	29						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TGCCGGCCGCGGGGGACGGAC	0.761													2	4	---	---	---	---						-	158380277	G	-	158380277	7	5	105	1	0	1	0	1	0	0	0	0	12860	1116	39	0	3054	0	PTPRN2	7	158380277	Frame_Shift_Del	DEL	G	TCGA-EJ-A65E-01A-11D-A29Q-08	17898875	158380277	758386	19	5447											
ZNF485	220992	broad.mit.edu	37	chr10	44104101	44104101	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtggctgtggcctttaccCggattgagtggagacacctg	7	11	14	9	1	0	2	0	1	0	1	0	4	0	3	3	4	1	1	3	4	1	3	rs45545532	by1000genomes	TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr10:44104101C>T	ENST00000361807.3	+	3	258	c.64C>T	c.(64-66)Cgg>Tgg	p.R22W	ZNF485_ENST00000374437.2_Intron|ZNF485_ENST00000374435.3_Missense_Mutation_p.R22W	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	22	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						GGCCTTTACCCGGATTGAGTG	0.562													4	31					0	0	1	0	0	T	44104101	C	T	44104101	3	4	105	1	0	0	0	0	1	0	0	0	17995	643	23	1	70	1	ZNF485	10	44104101	Missense_Mutation	SNP	C	TCGA-EJ-A65E-01A-11D-A29Q-08		44104101	91430646	20	5448											
P4HA1	5033	broad.mit.edu	37	chr10	74813264	74813264	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgttccatccacagttccGtatggtaataatctgcttct	8	16	6	11	1	2	0	0	0	2	0	5	0	5	0	3	1	1	5	3	1	3	7			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr10:74813264G>C	ENST00000412021.2	-	7	881	c.548C>G	c.(547-549)aCg>aGg	p.T183R	P4HA1_ENST00000373008.2_Missense_Mutation_p.T183R|P4HA1_ENST00000307116.2_Missense_Mutation_p.T183R|P4HA1_ENST00000394890.2_Missense_Mutation_p.T183R|P4HA1_ENST00000440381.1_Missense_Mutation_p.T183R|P4HA1_ENST00000263556.3_Missense_Mutation_p.T183R	NM_001142595.1	NP_001136067.1	P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	183						endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CCACAGTTCCGTATGGTAATA	0.403													11	88					0	0	1	0	0	C	74813264	G	C	74813264	3	2	105	1	0	0	0	0	1	0	0	0	11403	1145	40	4	1171	4	P4HA1	10	74813264	Missense_Mutation	SNP	G	TCGA-EJ-A65E-01A-11D-A29Q-08	30709163	74813264	60721483	21	5449											
OR51F2	119694	broad.mit.edu	37	chr11	4842772	4842772	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctcctatatgttgttgccGtctctggaaatagcatgatc	8	15	9	9	1	2	1	0	1	2	0	5	2	2	2	2	1	2	3	2	1	4	5	rs147733457	byFrequency	TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr11:4842772G>A	ENST00000322110.5	+	1	222	c.157G>A	c.(157-159)Gtc>Atc	p.V53I	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V53I(1)		breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGTTGTTGCCGTCTCTGGAAA	0.493													11	240					0	0	1	0	0	A	4842772	G	A	4842772	3	1	105	1	0	0	0	0	1	0	0	0	11145	1145	40	1	159	1	OR51F2	11	4842772	Missense_Mutation	SNP	G	TCGA-EJ-A65E-01A-11D-A29Q-08		4842772	130163744	22	5450											
LRRC55	219527	broad.mit.edu	37	chr11	56949994	56949994	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcctcatgcagctccgagaCctggacctcagttatggggg	7	8	14	12	1	2	1	2	0	0	1	3	3	3	2	4	4	2	3	4	4	1	1			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr11:56949994C>T	ENST00000497933.1	+	1	774	c.627C>T	c.(625-627)gaC>gaT	p.D209D		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	179	LRRCT.					integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						AGCTCCGAGACCTGGACCTCA	0.652													27	58					0	0	1	0	0	T	56949994	C	T	56949994	2	4	105	1	0	0	0	0	0	0	0	1	9056	506	18	2		2	LRRC55	11	56949994	Silent	SNP	C	TCGA-EJ-A65E-01A-11D-A29Q-08	52107222	56949994	78056522	23	5451											
PPP1CA	5499	broad.mit.edu	37	chr11	67167115	67167115	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagtgaaggttttccacagtTtgatgttgtagcgtctcttg	7	16	11	7	1	1	2	0	2	1	0	3	2	2	2	1	1	1	4	1	1	2	6			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr11:67167115T>A	ENST00000376745.4	-	4	588	c.440A>T	c.(439-441)aAa>aTa	p.K147I	PPP1CA_ENST00000532446.1_5'UTR|PPP1CA_ENST00000358239.4_Missense_Mutation_p.K103I|PPP1CA_ENST00000312989.7_Missense_Mutation_p.K158I	NM_001008709.1|NM_002708.3	NP_001008709.1|NP_002699.1	P62136	PP1A_HUMAN	protein phosphatase 1, catalytic subunit, alpha isozyme	147					cell cycle|cell division|glycogen metabolic process|protein dephosphorylation|triglyceride catabolic process	cytosol|MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|protein binding|protein phosphatase type 1 regulator activity|protein serine/threonine phosphatase activity			breast(1)|lung(2)|pancreas(1)|urinary_tract(3)	7			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			TTTCCACAGTTTGATGTTGTA	0.607													5	31					0	0	1	0	0	A	67167115	T	A	67167115	3	1	105	1	0	0	0	0	1	0	0	0	12398	1841	64	5	568	5	PPP1CA	11	67167115	Missense_Mutation	SNP	T	TCGA-EJ-A65E-01A-11D-A29Q-08	10217121	67167115	67839401	24	5452											
PPP2R1B	5519	broad.mit.edu	37	chr11	111625227	111625227	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ataaagtcaggtttacctttAtataaggcagaatttgattc	14	15	7	5	0	1	2	1	1	0	1	2	2	1	2	1	2	1	2	1	2	7	9			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr11:111625227A>C	ENST00000527614.1	-	8	1090	c.1025T>G	c.(1024-1026)aTa>aGa	p.I342R	PPP2R1B_ENST00000393055.2_Missense_Mutation_p.I215R|PPP2R1B_ENST00000341980.6_Missense_Mutation_p.I342R|PPP2R1B_ENST00000426998.2_Missense_Mutation_p.I278R|PPP2R1B_ENST00000427203.2_Missense_Mutation_p.I181R|PPP2R1B_ENST00000311129.5_Missense_Mutation_p.I342R	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	342							protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		GTTTACCTTTATATAAGGCAG	0.294													11	18					0	0	1	0	0	C	111625227	A	C	111625227	3	2	105	1	0	0	0	0	1	0	0	0	12432	449	16	5	1035	5	PPP2R1B	11	111625227	Missense_Mutation	SNP	A	TCGA-EJ-A65E-01A-11D-A29Q-08	44458112	111625227	23381289	25	5453											
C2CD2L	9854	broad.mit.edu	37	chr11	118986790	118986790	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcactaagctcatcttcCgccggaggcctaggcagaag	9	6	13	13	3	2	1	1	0	1	1	3	2	3	2	3	4	1	3	3	4	3	3			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr11:118986790C>T	ENST00000336702.3	+	14	2307	c.1948C>T	c.(1948-1950)Cgc>Tgc	p.R650C	C2CD2L_ENST00000528586.1_3'UTR	NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN	C2CD2-like	649						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						GCTCATCTTCCGCCGGAGGCC	0.637													8	42					0	0	1	0	0	T	118986790	C	T	118986790	3	4	105	1	0	0	0	0	1	0	0	0	2167	652	23	1	2002	1	C2CD2L	11	118986790	Missense_Mutation	SNP	C	TCGA-EJ-A65E-01A-11D-A29Q-08	7361563	118986790	16019726	26	5454											
LRTM2	0	broad.mit.edu	37	chr12	1943629	1943629	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccaagcccggggctgagccGgagccggagcccagcacagc	8	1	15	17	3	0	1	0	1	0	0	0	3	0	3	5	4	6	2	5	4	1	0			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr12:1943629G>A	ENST00000543818.1	+	5	1697	c.855G>A	c.(853-855)ccG>ccA	p.P285P	CACNA2D4_ENST00000585732.1_Intron|LRTM2_ENST00000543730.1_3'UTR|CACNA2D4_ENST00000382722.5_Intron|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000586184.1_Intron|LRTM2_ENST00000299194.1_Silent_p.P285P|CACNA2D4_ENST00000585708.1_Intron|LRTM2_ENST00000535041.1_Silent_p.P285P	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	285						integral to membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			GGGCTGAGCCGGAGCCGGAGC	0.672													24	49					0	0	1	0	0	A	1943629	G	A	1943629	2	1	105	1	0	0	0	0	0	0	0	1	9090	1103	39	1		1	LRTM2	12	1943629	Silent	SNP	G	TCGA-EJ-A65E-01A-11D-A29Q-08		1943629	131908266	27	5455											
SLC4A8	9498	broad.mit.edu	37	chr12	51882523	51882523	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atggattattaatcccattgGccccaatccctggtggactg	9	12	9	11	0	0	0	0	0	0	0	2	2	2	2	4	4	0	0	4	4	3	3			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr12:51882523G>T	ENST00000453097.2	+	18	2544	c.2327G>T	c.(2326-2328)gGc>gTc	p.G776V	SLC4A8_ENST00000358657.3_Missense_Mutation_p.G803V	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	776					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		AATCCCATTGGCCCCAATCCC	0.393													27	73					6.12954e-19	6.78335e-19	1	1	0	T	51882523	G	T	51882523	3	4	105	1	0	0	0	0	1	0	0	0	14714	1203	42	4	2397	4	SLC4A8	12	51882523	Missense_Mutation	SNP	G	TCGA-EJ-A65E-01A-11D-A29Q-08	49938894	51882523	81969372	28	5456											
USP30	84749	broad.mit.edu	37	chr12	109523652	109523652	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagcctgcaggaggtcctGtcctccagcgcctacctgct	5	8	11	17	1	0	0	0	0	0	0	3	1	3	1	7	2	5	2	7	2	1	1			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr12:109523652G>T	ENST00000257548.5	+	13	1563	c.1470G>T	c.(1468-1470)ctG>ctT	p.L490L	USP30_ENST00000392784.2_Silent_p.L459L	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	490					ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						AGGAGGTCCTGTCCTCCAGCG	0.597													5	34					0.000602214	0.000640818	1	1	0	T	109523652	G	T	109523652	2	4	105	1	0	0	0	0	0	0	0	1	17121	1364	48	4		4	USP30	12	109523652	Silent	SNP	G	TCGA-EJ-A65E-01A-11D-A29Q-08	57641129	109523652	24328243	29	5457											
PDS5B	23047	broad.mit.edu	37	chr13	33226030	33226030	+	Frame_Shift_Del	DEL	T	T	-																															gctttacatcttgcttcagaTttttttctcaagcatcctga																										TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr13:33226030delT	ENST00000315596.10	+	3	384	c.198delT	c.(196-198)gafs	p.D66fs		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	66					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		TTGCTTCAGATTTTTTTCTCA	0.383													32	82	---	---	---	---						-	33226030	T	-	33226030	7	5	105	1	0	1	0	1	0	0	0	0	11739	1490	52	0	204	0	PDS5B	13	33226030	Frame_Shift_Del	DEL	T	TCGA-EJ-A65E-01A-11D-A29Q-08		33226030	81943848	30	5458											
TRPC4	7223	broad.mit.edu	37	chr13	38211582	38211582	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgaatcagggtggttaaatCaaaaaggctgaaattctttt	15	13	9	4	0	3	2	2	2	1	0	3	2	3	2	0	3	0	2	0	3	6	4			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr13:38211582C>G	ENST00000379705.3	-	11	3249	c.2392G>C	c.(2392-2394)Gat>Cat	p.D798H	TRPC4_ENST00000379679.1_Missense_Mutation_p.D625H|TRPC4_ENST00000338947.5_Missense_Mutation_p.D625H|TRPC4_ENST00000355779.2_Intron|TRPC4_ENST00000358477.2_Intron|TRPC4_ENST00000379681.3_Missense_Mutation_p.D803H|TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000447043.1_Intron|TRPC4_ENST00000379673.2_Intron			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	798	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		GTGGTTAAATCAAAAAGGCTG	0.463													22	50					0	0	1	0	0	G	38211582	C	G	38211582	3	3	105	1	0	0	0	0	1	0	0	0	16641	826	29	4	545	4	TRPC4	13	38211582	Missense_Mutation	SNP	C	TCGA-EJ-A65E-01A-11D-A29Q-08	4985552	38211582	76958296	31	5459											
RBM25	58517	broad.mit.edu	37	chr14	73581030	73581030	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caccccagagcattttagatGatgttgccatggtaagttag	11	12	10	8	0	0	3	0	1	0	2	0	3	0	3	3	1	2	4	3	1	3	5			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr14:73581030G>A	ENST00000261973.7	+	18	2713	c.2428G>A	c.(2428-2430)Gat>Aat	p.D810N	RBM25_ENST00000527432.1_Missense_Mutation_p.D810N|RBM25_ENST00000532483.1_3'UTR	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	810	PWI.				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		CATTTTAGATGATGTTGCCAT	0.259													19	50					0	0	1	0	0	A	73581030	G	A	73581030	3	1	105	1	0	0	0	0	1	0	0	0	13177	1290	45	2	2494	2	RBM25	14	73581030	Missense_Mutation	SNP	G	TCGA-EJ-A65E-01A-11D-A29Q-08		73581030	33768510	32	5460											
FBN1	2200	broad.mit.edu	37	chr15	48777609	48777609	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggcattagtgcaaatcccGgctgacagctacattcatag	12	9	9	11	1	1	1	1	1	0	0	2	1	2	1	1	2	3	4	1	2	4	4			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr15:48777609G>A	ENST00000316623.5	-	30	4129	c.3674C>T	c.(3673-3675)cCg>cTg	p.P1225L		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	1225	EGF-like 19; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TGCAAATCCCGGCTGACAGCT	0.428													15	55					0	0	1	0	0	A	48777609	G	A	48777609	3	1	105	1	0	0	0	0	1	0	0	0	5735	1116	39	1	5089	1	FBN1	15	48777609	Missense_Mutation	SNP	G	TCGA-EJ-A65E-01A-11D-A29Q-08		48777609	53753783	33	5461											
ONECUT1	3175	broad.mit.edu	37	chr15	53081960	53081960	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggggggcaggtggctgccgCggtgcgccacggagctgcgc	3	4	21	13	6	0	0	0	0	0	0	0	1	0	1	2	7	4	3	2	7	0	0			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr15:53081960C>T	ENST00000305901.5	-	1	249	c.122G>A	c.(121-123)cGc>cAc	p.R41H	ONECUT1_ENST00000561401.2_Intron	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	41					endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		GTGGCTGCCGCGGTGCGCCAC	0.771													5	19					0	0	1	0	0	T	53081960	C	T	53081960	3	4	105	1	0	0	0	0	1	0	0	0	10916	768	27	1	1283	1	ONECUT1	15	53081960	Missense_Mutation	SNP	C	TCGA-EJ-A65E-01A-11D-A29Q-08	4304351	53081960	49449432	34	5462											
HEATR3	55027	broad.mit.edu	37	chr16	50136206	50136206	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttgaagttaccaccaaaGatccttcccttgtggtagca	10	12	8	11	0	0	2	0	1	0	1	2	2	2	2	4	1	3	4	4	1	4	5			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr16:50136206G>T	ENST00000299192.7	+	14	1971	c.1780G>T	c.(1780-1782)Gat>Tat	p.D594Y	HEATR3_ENST00000285767.4_Missense_Mutation_p.D508Y|RP11-429P3.5_ENST00000566770.1_RNA	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	594							binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						TACCACCAAAGATCCTTCCCT	0.398													32	79					1.74807e-11	1.90908e-11	1	1	0	T	50136206	G	T	50136206	3	4	105	1	0	0	0	0	1	0	0	0	7070	942	33	4	1834	4	HEATR3	16	50136206	Missense_Mutation	SNP	G	TCGA-EJ-A65E-01A-11D-A29Q-08		50136206	40218547	35	5463											
NUFIP2	57532	broad.mit.edu	37	chr17	27614574	27614574	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcttggttttaattcctgcTttcccaaaggtgttggcctt	5	19	8	9	0	1	0	0	0	1	0	3	0	3	0	3	3	1	3	3	3	2	8			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr17:27614574T>A	ENST00000225388.4	-	2	496	c.438A>T	c.(436-438)aaA>aaT	p.K146N	NUFIP2_ENST00000579665.1_Intron	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	146						nucleus|polysomal ribosome	protein binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			TAATTCCTGCTTTCCCAAAGG	0.408													14	78					0	0	1	0	0	A	27614574	T	A	27614574	3	1	105	1	0	0	0	0	1	0	0	0	10797	1606	56	5	1661	5	NUFIP2	17	27614574	Missense_Mutation	SNP	T	TCGA-EJ-A65E-01A-11D-A29Q-08		27614574	53580636	36	5464											
SPOP	8405	broad.mit.edu	37	chr17	47696644	47696644	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attcaggatggagaatttgaAttttgcccgaacttcactct	11	14	8	8	1	3	2	2	1	1	1	3	5	3	3	1	2	2	0	1	2	3	5			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr17:47696644A>C	ENST00000393331.3	-	6	774	c.304T>G	c.(304-306)Ttc>Gtc	p.F102V	SPOP_ENST00000503676.1_Missense_Mutation_p.F102V|SPOP_ENST00000504102.1_Missense_Mutation_p.F102V|SPOP_ENST00000393328.2_Missense_Mutation_p.F102V|SPOP_ENST00000347630.2_Missense_Mutation_p.F102V	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	102	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						GAGAATTTGAATTTTGCCCGA	0.408										Prostate(2;0.17)			24	46					0	0	1	0	0	C	47696644	A	C	47696644	3	2	105	1	0	0	0	0	1	0	0	0	15140	101	4	5	848	5	SPOP	17	47696644	Missense_Mutation	SNP	A	TCGA-EJ-A65E-01A-11D-A29Q-08	20082070	47696644	33498566	37	5465											
DSG1	1828	broad.mit.edu	37	chr18	28934953	28934953	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagtaatccaaccaacttccGgcatgataggtagtctgagt	12	10	10	9	1	1	2	0	2	1	0	3	3	3	2	3	2	2	3	3	2	5	4			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr18:28934953G>A	ENST00000257192.4	+	15	3006	c.2794G>A	c.(2794-2796)Ggc>Agc	p.G932S	RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|DSG1_ENST00000462981.2_Missense_Mutation_p.G291S	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	932					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			ACCAACTTCCGGCATGATAGG	0.468													65	165					0	0	1	0	0	A	28934953	G	A	28934953	3	1	105	1	0	0	0	0	1	0	0	0	4802	1116	39	1	2852	1	DSG1	18	28934953	Missense_Mutation	SNP	G	TCGA-EJ-A65E-01A-11D-A29Q-08		28934953	49142295	38	5466											
PPFIA3	8541	broad.mit.edu	37	chr19	49653359	49653359	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagacttctgggagttcccgGgcagacggcgtttcggtccg	5	9	15	12	5	1	2	0	0	1	2	4	3	3	3	2	4	0	3	2	4	0	3			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr19:49653359G>C	ENST00000334186.4	+	29	3898	c.3549G>C	c.(3547-3549)cgG>cgC	p.R1183R	PPFIA3_ENST00000602351.1_Silent_p.R1174R	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	1183						cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		GGAGTTCCCGGGCAGACGGCG	0.652													4	17					0	0	1	0	0	C	49653359	G	C	49653359	2	2	105	1	0	0	0	0	0	0	0	1	12356	1219	43	4		4	PPFIA3	19	49653359	Silent	SNP	G	TCGA-EJ-A65E-01A-11D-A29Q-08		49653359	9475624	39	5467											
RASSF2	9770	broad.mit.edu	37	chr20	4771182	4771182	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtcctcacattgccacggCgacgcaccccaacatcactg	9	6	8	18	4	2	0	2	0	0	0	3	1	3	0	4	1	2	1	4	1	1	1	rs145831009	byFrequency	TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr20:4771182C>T	ENST00000379400.3	-	7	647	c.452G>A	c.(451-453)cGc>cAc	p.R151H	RASSF2_ENST00000379376.2_Missense_Mutation_p.R151H|RASSF2_ENST00000478553.1_5'UTR	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	151					cell cycle|signal transduction	nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						ATTGCCACGGCGACGCACCCC	0.592													8	18					0	0	1	0	0	T	4771182	C	T	4771182	3	4	105	1	0	0	0	0	1	0	0	0	13138	768	27	1	552	1	RASSF2	20	4771182	Missense_Mutation	SNP	C	TCGA-EJ-A65E-01A-11D-A29Q-08		4771182	58254338	40	5468											
LAMA5	3911	broad.mit.edu	37	chr20	60887332	60887332	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacgttcgagagcgccaggCgaaggaagccgtggccatgg	9	4	16	12	5	0	1	0	0	0	1	1	4	0	2	4	4	2	1	4	4	2	1			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr20:60887332C>T	ENST00000252999.3	-	69	9467	c.9401G>A	c.(9400-9402)cGc>cAc	p.R3134H		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3134	Laminin G-like 3.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAGCGCCAGGCGAAGGAAGCC	0.682													3	24					0	0	1	0	0	T	60887332	C	T	60887332	3	4	105	1	0	0	0	0	1	0	0	0	8648	768	27	1	1734	1	LAMA5	20	60887332	Missense_Mutation	SNP	C	TCGA-EJ-A65E-01A-11D-A29Q-08	56116150	60887332	2138188	41	5469											
DSCAM	1826	broad.mit.edu	37	chr21	41551004	41551004	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaaacatctttggttctctGagcagaatcccaggagtctt	10	12	10	9	0	3	2	0	1	3	1	5	4	4	4	1	3	2	2	1	3	2	3			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr21:41551004G>A	ENST00000400454.1	-	15	3274	c.2797C>T	c.(2797-2799)Cag>Tag	p.Q933*		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	933	Fibronectin type-III 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TTGGTTCTCTGAGCAGAATCC	0.448													14	35					0	0	1	0	0	A	41551004	G	A	41551004	4	1	105	1	0	0	0	0	0	1	0	0	4794	1299	45	2	3317	2	DSCAM	21	41551004	Nonsense_Mutation	SNP	G	TCGA-EJ-A65E-01A-11D-A29Q-08		41551004	6578891	42	5470											
SGSM3	27352	broad.mit.edu	37	chr22	40805725	40805725	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agggcgtccgggacatgctgGtgaagcaccacctcttcagc	8	7	13	13	2	2	1	1	1	1	0	3	2	3	2	3	3	3	2	3	3	1	1			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chr22:40805725G>C	ENST00000248929.9	+	22	2401	c.2212G>C	c.(2212-2214)Gtg>Ctg	p.V738L		NM_015705.4	NP_056520.2	Q96HU1	SGSM3_HUMAN	small G protein signaling modulator 3	738					cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						GGACATGCTGGTGAAGCACCA	0.667													35	92					0	0	1	0	0	C	40805725	G	C	40805725	3	2	105	1	0	0	0	0	1	0	0	0	14278	1261	44	4	2294	4	SGSM3	22	40805725	Missense_Mutation	SNP	G	TCGA-EJ-A65E-01A-11D-A29Q-08		40805725	10498841	43	5471											
CYBB	1536	broad.mit.edu	37	chrX	37660566	37660566	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctgtgagaggttggtgcggTtttggcgatctcaacagaag	8	12	15	6	2	2	2	1	1	2	2	3	4	2	2	0	4	2	2	0	4	2	3			TCGA-EJ-A65E-01A-11D-A29Q-08	TCGA-EJ-A65E-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	914ddd96-a9b1-469b-8114-ed57c1184729	dcb67253-4e94-409e-a5cf-5a86196c1877	g.chrX:37660566T>A	ENST00000378588.4	+	8	929	c.862T>A	c.(862-864)Ttt>Att	p.F288I	CYBB_ENST00000536160.1_Missense_Mutation_p.F21I|CYBB_ENST00000545017.1_Missense_Mutation_p.F256I|TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000492288.1_3'UTR	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	288	FAD-binding FR-type.				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						GTTGGTGCGGTTTTGGCGATC	0.408													61	42					0	0	1	0	0	A	37660566	T	A	37660566	3	1	105	1	0	0	0	0	1	0	0	0	4156	1725	60	5	892	5	CYBB	23	37660566	Missense_Mutation	SNP	T	TCGA-EJ-A65E-01A-11D-A29Q-08		37660566	117609994	44	5472											
COL11A1	1301	broad.mit.edu	37	chr1	103480069	103480069	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagtttatcctgtcttacccGagcctgctgaagaatagctt	10	13	8	10	1	1	2	0	1	1	1	2	3	2	2	3	0	4	3	3	0	6	5			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr1:103480069G>A	ENST00000358392.2	-	13	1923	c.1606C>T	c.(1606-1608)Cgg>Tgg	p.R536W	COL11A1_ENST00000512756.1_Missense_Mutation_p.R408W|COL11A1_ENST00000353414.4_Missense_Mutation_p.R485W|COL11A1_ENST00000370096.3_Missense_Mutation_p.R524W	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	524	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)		TGTCTTACCCGAGCCTGCTGA	0.418													14	44					0	0	1	0	0	A	103480069	G	A	103480069	3	1	106	1	0	0	0	0	1	0	0	0	3690	1057	37	1	4070	1	COL11A1	1	103480069	Missense_Mutation	SNP	G	TCGA-EJ-A65F-01A-21D-A30X-08		103480069	145770552	1	5473											
HIPK1	204851	broad.mit.edu	37	chr1	114499303	114499303	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttggcagagaaggcagacCgaagagaatacattgatctg	14	8	13	6	1	1	4	0	1	1	3	1	7	1	4	1	2	1	3	1	2	4	3			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr1:114499303C>T	ENST00000369558.1	+	6	1694	c.1462C>T	c.(1462-1464)Cga>Tga	p.R488*	HIPK1_ENST00000340480.4_Nonsense_Mutation_p.R114*|HIPK1_ENST00000369553.1_Nonsense_Mutation_p.R94*|HIPK1_ENST00000369554.2_Nonsense_Mutation_p.R488*|HIPK1_ENST00000369555.2_Nonsense_Mutation_p.R488*|HIPK1_ENST00000369559.4_Nonsense_Mutation_p.R488*|HIPK1_ENST00000426820.2_Nonsense_Mutation_p.R488*|HIPK1_ENST00000406344.1_Nonsense_Mutation_p.R94*|HIPK1_ENST00000369561.4_Nonsense_Mutation_p.R488*			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	488	Protein kinase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAAGGCAGACCGAAGAGAATA	0.383													8	47					0	0	1	0	0	T	114499303	C	T	114499303	4	4	106	1	0	0	0	0	0	1	0	0	7157	644	23	1	1498	1	HIPK1	1	114499303	Nonsense_Mutation	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08	11019234	114499303	134751318	2	5474											
NUP210L	91181	broad.mit.edu	37	chr1	154067630	154067630	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccacttccacaggatttaaAgcctgatgatatttaaagaa	15	11	7	8	0	0	3	0	2	0	1	1	4	1	4	3	1	1	0	3	1	6	6			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr1:154067630A>T	ENST00000368559.3	-	15	2039	c.1968T>A	c.(1966-1968)gcT>gcA	p.A656A	NUP210L_ENST00000271854.3_Silent_p.A656A	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	656						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CAGGATTTAAAGCCTGATGAT	0.393													16	26					0	0	1	0	0	T	154067630	A	T	154067630	2	4	106	1	0	0	0	0	0	0	0	1	10809	59	3	5		5	NUP210L	1	154067630	Silent	SNP	A	TCGA-EJ-A65F-01A-21D-A30X-08	39568327	154067630	95182991	3	5475											
ATP2B4	493	broad.mit.edu	37	chr1	203690539	203690539	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctttatccttgtctttgcggGtgagccactttgggggtggg	3	15	15	8	1	1	1	0	1	1	0	2	1	2	1	2	4	2	0	2	4	1	5			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr1:203690539G>A	ENST00000357681.5	+	17	3935		c.e17+1		ATP2B4_ENST00000341360.2_Splice_Site|ATP2B4_ENST00000367219.3_Splice_Site|ATP2B4_ENST00000367218.3_Splice_Site|ATP2B4_ENST00000391954.2_Splice_Site	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4						ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GTCTTTGCGGGTGAGCCACTT	0.517													10	70					0	0	1	0	0	A	203690539	G	A	203690539	5	1	106	1	0	0	0	0	0	0	1	0	1141	1275	44	2	2875	2	ATP2B4	1	203690539	Splice_Site	SNP	G	TCGA-EJ-A65F-01A-21D-A30X-08	49622909	203690539	45560082	4	5476											
CTSE	1510	broad.mit.edu	37	chr1	206318331	206318331	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcccctcaggaggcatcCgtccctcaagaagaagctgc	9	6	12	14	1	2	2	2	0	0	2	4	3	4	3	4	3	3	2	4	3	3	0			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr1:206318331C>T	ENST00000361052.3	+	2	207	c.89C>T	c.(88-90)cCg>cTg	p.P30L	CTSE_ENST00000432969.2_Intron|CTSE_ENST00000360218.2_Missense_Mutation_p.P30L|CTSE_ENST00000358184.2_Missense_Mutation_p.P30L			P14091	CATE_HUMAN	cathepsin E	30					antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			AGGAGGCATCCGTCCCTCAAG	0.557													3	38					0	0	1	0	0	T	206318331	C	T	206318331	3	4	106	1	0	0	0	0	1	0	0	0	4057	652	23	1	95	1	CTSE	1	206318331	Missense_Mutation	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08	2627792	206318331	42932290	5	5477											
MAPKAPK2	9261	broad.mit.edu	37	chr1	206858781	206858781	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tacaaggtcaccagccaggtCctggggctgggcatcaacgg	9	6	14	12	1	2	0	2	0	0	0	3	0	3	0	3	6	3	2	3	6	3	1			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr1:206858781C>G	ENST00000367103.3	+	1	400	c.207C>G	c.(205-207)gtC>gtG	p.V69V	MAPKAPK2_ENST00000294981.4_Silent_p.V69V	NM_004759.4|NM_032960.3	NP_004750.1|NP_116584.2	P49137	MAPK2_HUMAN	mitogen-activated protein kinase-activated protein kinase 2	69	Protein kinase.				activation of MAPK activity|hormone biosynthetic process|innate immune response|leukotriene biosynthetic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|prostanoid metabolic process|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			CCAGCCAGGTCCTGGGGCTGG	0.607													27	26					0	0	1	0	0	G	206858781	C	G	206858781	2	3	106	1	0	0	0	0	0	0	0	1	9339	842	30	4		4	MAPKAPK2	1	206858781	Silent	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08	540450	206858781	42391840	6	5478											
FCAMR	83953	broad.mit.edu	37	chr1	207133070	207133070	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcaatagaaccagagccatAagcataaacagggccagcat	17	5	9	10	0	0	2	0	0	0	2	0	2	0	2	3	1	6	3	3	1	6	3			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr1:207133070A>G	ENST00000400962.3	-	7	1141	c.725T>C	c.(724-726)tTa>tCa	p.L242S	FCAMR_ENST00000324852.4_Silent_p.L509L|FCAMR_ENST00000450945.2_Missense_Mutation_p.L242S|FCAMR_ENST00000486178.1_5'UTR	NM_001122979.2|NM_032029.4	NP_001116451.1|NP_114418.2	Q8WWV6	FCAMR_HUMAN	Fc receptor, IgA, IgM, high affinity	383						integral to membrane|plasma membrane	receptor activity			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						CCAGAGCCATAAGCATAAACA	0.522													105	107					0	0	1	0	0	G	207133070	A	G	207133070	3	3	106	1	0	0	0	0	1	0	0	0	5805	372	13	3	214	3	FCAMR	1	207133070	Missense_Mutation	SNP	A	TCGA-EJ-A65F-01A-21D-A30X-08	274289	207133070	42117551	7	5479											
ENAH	55740	broad.mit.edu	37	chr1	225699534	225699534	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggtgtacttgttgaagaggCcttagaagttacaggctctg	10	12	13	6	0	1	3	0	1	1	2	1	3	1	3	1	3	2	4	1	3	5	5			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr1:225699534C>A	ENST00000366844.2	-	10	1901	c.1450G>T	c.(1450-1452)Gcc>Tcc	p.A484S	ENAH_ENST00000284563.6_Missense_Mutation_p.A731S|ENAH_ENST00000366843.2_Missense_Mutation_p.A484S	NM_001008493.1	NP_001008493.1	Q8N8S7	ENAH_HUMAN	enabled homolog (Drosophila)	484	EVH2.				axon guidance|intracellular transport|T cell receptor signaling pathway	cytosol|filopodium|focal adhesion|lamellipodium|synapse	actin binding|SH3 domain binding|WW domain binding			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		GTTGAAGAGGCCTTAGAAGTT	0.323													5	17					0.000602214	0.000641067	1	1	0	A	225699534	C	A	225699534	3	1	106	1	0	0	0	0	1	0	0	0	5139	739	26	4	349	4	ENAH	1	225699534	Missense_Mutation	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08	18566464	225699534	23551087	8	5480											
NRBP1	29959	broad.mit.edu	37	chr2	27662756	27662756	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttgcggcccactgcattgtgGgacaccaacgtgagtcgtct	7	10	12	12	3	1	1	0	1	1	0	2	2	1	2	2	2	3	1	2	2	1	2			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr2:27662756G>C	ENST00000233557.3	+	12	1859	c.1027G>C	c.(1027-1029)Gga>Cga	p.G343R	NRBP1_ENST00000379863.3_Missense_Mutation_p.G351R|NRBP1_ENST00000379852.3_Missense_Mutation_p.G343R			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	343					ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					CTGCATTGTGGGACACCAACG	0.517													4	86					0	0	1	0	0	C	27662756	G	C	27662756	3	2	106	1	0	0	0	0	1	0	0	0	10690	1233	43	4	1065	4	NRBP1	2	27662756	Missense_Mutation	SNP	G	TCGA-EJ-A65F-01A-21D-A30X-08		27662756	215536617	9	5481											
CTNNA2	1496	broad.mit.edu	37	chr2	80136846	80136846	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctgcacgcgagacgacCggcgcgagaggatcgtggcg	7	4	16	14	8	0	2	0	0	0	2	2	6	1	3	3	3	1	1	3	3	0	0			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr2:80136846C>T	ENST00000466387.1	+	11	1703	c.979C>T	c.(979-981)Cgg>Tgg	p.R327W	CTNNA2_ENST00000540488.1_Missense_Mutation_p.R327W|CTNNA2_ENST00000496558.1_Missense_Mutation_p.R327W|CTNNA2_ENST00000541047.1_Missense_Mutation_p.R327W|CTNNA2_ENST00000402739.4_Missense_Mutation_p.R327W|CTNNA2_ENST00000361291.4_Missense_Mutation_p.R361W			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	327					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GCGAGACGACCGGCGCGAGAG	0.637													25	90					0	0	1	0	0	T	80136846	C	T	80136846	3	4	106	1	0	0	0	0	1	0	0	0	4037	643	23	1		1	CTNNA2	2	80136846	Missense_Mutation	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08	52474090	80136846	163062527	10	5482											
LIPT1	51601	broad.mit.edu	37	chr2	99779276	99779276	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttagtataaatacttcctttCatgtgttatatgaacagtca	13	17	5	6	0	2	1	2	1	0	0	3	1	3	1	1	0	2	2	1	0	8	8			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr2:99779276C>T	ENST00000393477.3	+	4	1208	c.856C>T	c.(856-858)Cat>Tat	p.H286Y	MRPL30_ENST00000410042.1_Intron|LIPT1_ENST00000393471.2_Missense_Mutation_p.H286Y|LIPT1_ENST00000393473.2_Missense_Mutation_p.H286Y|LIPT1_ENST00000393474.3_Missense_Mutation_p.H286Y|LIPT1_ENST00000340066.1_Missense_Mutation_p.H286Y	NM_145197.2	NP_660198.1	Q9Y234	LIPT_HUMAN	lipoyltransferase 1	286					lipid metabolic process|protein lipoylation	mitochondrion	acyltransferase activity			large_intestine(6)|lung(1)	7					Lipoic Acid(DB00166)	TACTTCCTTTCATGTGTTATA	0.328													5	36					0	0	1	0	0	T	99779276	C	T	99779276	3	4	106	1	0	0	0	0	1	0	0	0	8870	826	29	2	858	2	LIPT1	2	99779276	Missense_Mutation	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08	19642430	99779276	143420097	11	5483											
GLI2	2736	broad.mit.edu	37	chr2	121748220	121748220	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgctcaccagcctcgccgAggagagcaagttcctgaaca	11	6	10	14	2	1	2	1	1	0	1	3	4	2	2	4	1	4	3	4	1	2	1			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr2:121748220A>T	ENST00000452319.1	+	14	4790	c.4730A>T	c.(4729-4731)gAg>gTg	p.E1577V	GLI2_ENST00000361492.4_Missense_Mutation_p.E1577V			P10070	GLI2_HUMAN	GLI family zinc finger 2	1577					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				AGCCTCGCCGAGGAGAGCAAG	0.637													25	48					0	0	1	0	0	T	121748220	A	T	121748220	3	4	106	1	0	0	0	0	1	0	0	0	6480	304	11	5	4780	5	GLI2	2	121748220	Missense_Mutation	SNP	A	TCGA-EJ-A65F-01A-21D-A30X-08	21968944	121748220	121451153	12	5484											
NEB	4703	broad.mit.edu	37	chr2	152486104	152486104	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacgatggggatggcgtcActtcgcaagtcgtagccttt	7	10	13	11	4	1	0	1	0	0	0	3	2	1	1	2	3	1	2	2	3	2	3			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr2:152486104A>T	ENST00000397345.3	-	68	9982	c.9780T>A	c.(9778-9780)agT>agA	p.S3260R	NEB_ENST00000172853.10_Missense_Mutation_p.S3017R|NEB_ENST00000603639.1_Missense_Mutation_p.S3260R|NEB_ENST00000604864.1_Missense_Mutation_p.S3260R|NEB_ENST00000409198.1_Missense_Mutation_p.S3017R|NEB_ENST00000427231.2_Missense_Mutation_p.S3260R	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	3260					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGATGGCGTCACTTCGCAAGT	0.453													19	54					0	0	1	0	0	T	152486104	A	T	152486104	3	4	106	1	0	0	0	0	1	0	0	0	10349	156	6	5	16366	5	NEB	2	152486104	Missense_Mutation	SNP	A	TCGA-EJ-A65F-01A-21D-A30X-08	30737884	152486104	90713269	13	5485											
CCDC148	130940	broad.mit.edu	37	chr2	159166039	159166039	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcacaagcctcagtgagtGtcagcacagccttctgtata	10	11	9	11	0	3	1	2	1	1	0	3	1	3	1	2	0	4	3	2	0	3	4			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr2:159166039G>T	ENST00000283233.5	-	9	1329	c.1016C>A	c.(1015-1017)aCa>aAa	p.T339K	CCDC148_ENST00000536771.1_Missense_Mutation_p.T253K|CCDC148_ENST00000409187.1_Missense_Mutation_p.T348K	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	339										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						CTCAGTGAGTGTCAGCACAGC	0.383													17	20					1.02788e-11	1.14338e-11	1	1	0	T	159166039	G	T	159166039	3	4	106	1	0	0	0	0	1	0	0	0	2800	1377	48	4	835	4	CCDC148	2	159166039	Missense_Mutation	SNP	G	TCGA-EJ-A65F-01A-21D-A30X-08	6679935	159166039	84033334	14	5486											
BAZ2B	29994	broad.mit.edu	37	chr2	160181377	160181377	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atccataggcttcttaataaCtttcttataaccaggaacaa	15	13	4	9	0	2	0	0	0	2	0	3	1	3	1	2	2	3	1	2	2	7	7			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr2:160181377C>T	ENST00000392783.2	-	36	6793	c.6298G>A	c.(6298-6300)Gtt>Att	p.V2100I	BAZ2B_ENST00000392782.1_Missense_Mutation_p.V2064I|BAZ2B_ENST00000343439.5_Missense_Mutation_p.V2000I|BAZ2B_ENST00000355831.2_Missense_Mutation_p.V2066I	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	2100	Bromo.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TTCTTAATAACTTTCTTATAA	0.318													20	22					0	0	1	0	0	T	160181377	C	T	160181377	3	4	106	1	0	0	0	0	1	0	0	0	1330	565	20	2	216	2	BAZ2B	2	160181377	Missense_Mutation	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08	1015338	160181377	83017996	15	5487											
GALNT3	2591	broad.mit.edu	37	chr2	166621453	166621453	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcagtattgcaggtgaagaaTagagcacactgtggacagtt	13	9	13	6	0	0	3	0	1	0	2	0	4	0	4	0	2	2	5	0	2	4	4			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr2:166621453T>G	ENST00000392701.3	-	3	1404	c.629A>C	c.(628-630)tAt>tCt	p.Y210S		NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)	210	Catalytic subdomain A.				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						AGGTGAAGAATAGAGCACACT	0.428													31	62					0	0	1	0	0	G	166621453	T	G	166621453	3	3	106	1	0	0	0	0	1	0	0	0	6254	1406	49	5	1308	5	GALNT3	2	166621453	Missense_Mutation	SNP	T	TCGA-EJ-A65F-01A-21D-A30X-08	6440076	166621453	76577920	16	5488											
TTN	7273	broad.mit.edu	37	chr2	179428723	179428723	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttccgcagtaactccagtaActttcagaggcccttcagga	10	11	8	12	1	2	1	2	0	0	1	4	2	4	2	3	2	2	3	3	2	2	5			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr2:179428723A>C	ENST00000589042.1	-	326	82360	c.82136T>G	c.(82135-82137)gTt>gGt	p.V27379G	TTN_ENST00000359218.5_Missense_Mutation_p.V18439G|TTN_ENST00000460472.2_Missense_Mutation_p.V18314G|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V25738G|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V24811G|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V18506G|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25738	Fibronectin type-III 99.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACTCCAGTAACTTTCAGAGG	0.438													20	73					0	0	1	0	0	C	179428723	A	C	179428723	3	2	106	1	0	0	0	0	1	0	0	0	16797	43	2	5	25991	5	TTN	2	179428723	Missense_Mutation	SNP	A	TCGA-EJ-A65F-01A-21D-A30X-08	12807270	179428723	63770650	17	5489											
DNAH7	56171	broad.mit.edu	37	chr2	196756423	196756423	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgacagcaaggaccccatCagaccattcatgggacactg	13	6	9	13	0	2	2	2	1	0	1	2	4	2	4	3	2	1	1	3	2	1	1			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr2:196756423C>A	ENST00000312428.6	-	31	5102	c.5002G>T	c.(5002-5004)Gat>Tat	p.D1668Y		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1668	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AGGACCCCATCAGACCATTCA	0.378													4	43					0.00909568	0.00928322	1	1	0	A	196756423	C	A	196756423	3	1	106	1	0	0	0	0	1	0	0	0	4633	826	29	4	7212	4	DNAH7	2	196756423	Missense_Mutation	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08	17327700	196756423	46442950	18	5490											
LRRC3B	116135	broad.mit.edu	37	chr3	26751671	26751671	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatgagacagcccacaacGtgatctgtaaaacgtccgtg	13	8	9	11	3	2	2	1	2	1	1	3	3	3	2	2	0	3	1	2	0	3	1			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr3:26751671G>C	ENST00000396641.2	+	2	1100	c.508G>C	c.(508-510)Gtg>Ctg	p.V170L	LRRC3B_ENST00000456208.2_Missense_Mutation_p.V170L|LRRC3B_ENST00000417744.1_Missense_Mutation_p.V170L	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	170	LRRCT.					integral to membrane		p.V170M(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						AGCCCACAACGTGATCTGTAA	0.517													7	20					0	0	1	0	0	C	26751671	G	C	26751671	3	2	106	1	0	0	0	0	1	0	0	0	9041	1145	40	4	510	4	LRRC3B	3	26751671	Missense_Mutation	SNP	G	TCGA-EJ-A65F-01A-21D-A30X-08		26751671	171270759	19	5491											
CACNA2D3	55799	broad.mit.edu	37	chr3	54919587	54919587	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaagcgattaagctctaccTaaaaggcaaagaacctctgc	16	7	8	10	1	2	2	0	0	2	2	2	3	2	2	2	1	5	2	2	1	7	3			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr3:54919587T>A	ENST00000474759.1	+	23	2078	c.2030T>A	c.(2029-2031)cTa>cAa	p.L677Q	CACNA2D3-AS1_ENST00000471265.1_RNA|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.L677Q|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.L677Q|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.L583Q	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	677						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		AAGCTCTACCTAAAAGGCAAA	0.473													10	12					0	0	1	0	0	A	54919587	T	A	54919587	3	1	106	1	0	0	0	0	1	0	0	0	2568	1522	53	5	2120	5	CACNA2D3	3	54919587	Missense_Mutation	SNP	T	TCGA-EJ-A65F-01A-21D-A30X-08	28167916	54919587	143102843	20	5492											
CAMK2N2	94032	broad.mit.edu	37	chr3	183979033	183979033	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctcggggtctgcgccgaagCggcccatcttgtcttcgctg	3	10	13	15	5	3	0	0	0	3	0	5	1	3	0	3	3	2	1	3	3	1	2			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr3:183979033C>A	ENST00000296238.3	-	1	218	c.41G>T	c.(40-42)cGc>cTc	p.R14L	ECE2_ENST00000402825.3_Intron|EIF2B5_ENST00000444495.1_Intron	NM_033259.2	NP_150284.1	Q96S95	CK2N2_HUMAN	calcium/calmodulin-dependent protein kinase II inhibitor 2	14						cytosol|nucleus	protein kinase inhibitor activity					all_cancers(143;1.09e-10)|Ovarian(172;0.0339)		Epithelial(37;2.51e-33)|OV - Ovarian serous cystadenocarcinoma(80;5.69e-22)			TGCGCCGAAGCGGCCCATCTT	0.736													3	23					0.004672	0.00486872	1	1	0	A	183979033	C	A	183979033	3	1	106	1	0	0	0	0	1	0	0	0	2622	768	27	4	206	4	CAMK2N2	3	183979033	Missense_Mutation	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08	129059446	183979033	14043397	21	5493											
GP5	2814	broad.mit.edu	37	chr3	194117793	194117793	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagccggggcagagccccaaAcacgtcgccaggcagggtct	9	3	14	15	3	1	1	0	0	1	1	2	1	1	1	4	4	3	2	4	4	1	0			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr3:194117793A>C	ENST00000401815.1	-	1	1290	c.1219T>G	c.(1219-1221)Ttt>Gtt	p.F407V	GP5_ENST00000323007.3_Missense_Mutation_p.F407V			P40197	GPV_HUMAN	glycoprotein V (platelet)	407					blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		AGAGCCCCAAACACGTCGCCA	0.697													4	7					0	0	1	0	0	C	194117793	A	C	194117793	3	2	106	1	0	0	0	0	1	0	0	0	6623	43	2	5	467	5	GP5	3	194117793	Missense_Mutation	SNP	A	TCGA-EJ-A65F-01A-21D-A30X-08	10138760	194117793	3904637	22	5494											
TACR3	6870	broad.mit.edu	37	chr4	104577479	104577479	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caatgggaaacagtacaccaGtataatgacgataatatggt	17	9	9	6	1	0	1	0	1	0	0	0	3	0	2	1	2	2	2	1	2	7	5			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr4:104577479G>A	ENST00000304883.2	-	3	900	c.760C>T	c.(760-762)Ctg>Ttg	p.L254L		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	254						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		CAGTACACCAGTATAATGACG	0.378													24	46					0	0	1	0	0	A	104577479	G	A	104577479	2	1	106	1	0	0	0	0	0	0	0	1	15564	1020	36	2		2	TACR3	4	104577479	Silent	SNP	G	TCGA-EJ-A65F-01A-21D-A30X-08		104577479	86576797	23	5495											
IL21	59067	broad.mit.edu	37	chr4	123534028	123534028	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttggagaagtgatttgaatCtttctaggaattctttgggt	9	18	11	3	0	3	3	0	2	3	1	3	5	3	4	0	3	0	0	0	3	4	6			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr4:123534028C>T	ENST00000264497.3	-	4	473	c.416G>A	c.(415-417)aGa>aAa	p.R139K		NM_001207006.2|NM_021803.3	NP_001193935.1|NP_068575.1	Q9HBE4	IL21_HUMAN	interleukin 21	132					cell maturation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|positive regulation of T cell proliferation|signal transduction	extracellular space	cytokine activity|interleukin-2 receptor binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						TGATTTGAATCTTTCTAGGAA	0.313													11	12					0	0	1	0	0	T	123534028	C	T	123534028	3	4	106	1	0	0	0	0	1	0	0	0	7714	913	32	2	80	2	IL21	4	123534028	Missense_Mutation	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08	18956549	123534028	67620248	24	5496											
KLHL2	11275	broad.mit.edu	37	chr4	166238998	166238998	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagtttgtgcagttaatggtCtgttatatgttgttggaggg	7	17	15	2	0	1	0	0	0	1	0	1	2	1	1	0	3	1	6	0	3	3	6			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr4:166238998C>G	ENST00000226725.6	+	14	1889	c.1630C>G	c.(1630-1632)Ctg>Gtg	p.L544V	KLHL2_ENST00000421009.2_Missense_Mutation_p.L447V|KLHL2_ENST00000514860.1_Missense_Mutation_p.L548V|KLHL2_ENST00000506761.1_Missense_Mutation_p.L378V|KLHL2_ENST00000538127.1_Missense_Mutation_p.L456V|KLHL2_ENST00000509028.1_3'UTR	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	544					intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		AGTTAATGGTCTGTTATATGT	0.348													4	82					0	0	1	0	0	G	166238998	C	G	166238998	3	3	106	1	0	0	0	0	1	0	0	0	8417	912	32	4	1726	4	KLHL2	4	166238998	Missense_Mutation	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08	42704970	166238998	24915278	25	5497											
IQGAP2	10788	broad.mit.edu	37	chr5	76003079	76003079	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	taatgaaaatgtttgataagGttaaagtgaatgtaaacctt	17	14	8	2	0	0	3	0	3	0	0	0	3	0	3	1	1	1	3	1	1	9	6			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr5:76003079G>C	ENST00000274364.6	+	36	4966	c.4669G>C	c.(4669-4671)Gtt>Ctt	p.V1557L	IQGAP2_ENST00000508410.1_3'UTR|IQGAP2_ENST00000502745.1_Missense_Mutation_p.V1053L|IQGAP2_ENST00000396234.3_Missense_Mutation_p.V1053L|CTD-2384B11.2_ENST00000507514.1_RNA|IQGAP2_ENST00000379730.3_Missense_Mutation_p.V1059L	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1557					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		GTTTGATAAGGTTAAAGTGAA	0.323													13	23					0	0	1	0	0	C	76003079	G	C	76003079	3	2	106	1	0	0	0	0	1	0	0	0	7859	1261	44	4	4811	4	IQGAP2	5	76003079	Missense_Mutation	SNP	G	TCGA-EJ-A65F-01A-21D-A30X-08		76003079	104912181	26	5498											
CHD1	1105	broad.mit.edu	37	chr5	98230355	98230355	+	Frame_Shift_Del	DEL	T	T	-																															aatatattaaattttaaccgTttggtctgatgatgcgtcca																										TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr5:98230355delT	ENST00000284049.3	-	12	1895	c.1746delA	c.(1744-1746)aafs	p.K582fs		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	582	Helicase ATP-binding.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	ATTTTAACCGTTTGGTCTGAT	0.259													2	4	---	---	---	---						-	98230355	T	-	98230355	7	5	106	1	0	1	0	1	0	0	0	0	3345	1722	60	0	3482	0	CHD1	5	98230355	Frame_Shift_Del	DEL	T	TCGA-EJ-A65F-01A-21D-A30X-08	22227276	98230355	82684905	27	5499											
CYFIP2	26999	broad.mit.edu	37	chr5	156734848	156734848	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgccaagaagagaattaatcTtagcaaaattgataaattct	18	12	6	5	0	2	3	0	1	2	2	2	4	2	3	1	0	2	1	1	0	9	5			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr5:156734848T>G	ENST00000347377.6	+	9	1306	c.875T>G	c.(874-876)cTt>cGt	p.L292R	CYFIP2_ENST00000541131.1_Missense_Mutation_p.L217R|CYFIP2_ENST00000522463.1_Missense_Mutation_p.L96R|CYFIP2_ENST00000377576.3_Missense_Mutation_p.L292R|CYFIP2_ENST00000521420.1_Missense_Mutation_p.L266R|CYFIP2_ENST00000318218.6_Missense_Mutation_p.L292R|CYFIP2_ENST00000442283.2_5'UTR	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	292					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGAATTAATCTTAGCAAAATT	0.463													3	11					0	0	1	0	0	G	156734848	T	G	156734848	3	3	106	1	0	0	0	0	1	0	0	0	4161	1609	56	5	905	5	CYFIP2	5	156734848	Missense_Mutation	SNP	T	TCGA-EJ-A65F-01A-21D-A30X-08	58504493	156734848	24180412	28	5500											
CDYL	9425	broad.mit.edu	37	chr6	4935754	4935754	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaactctcggcaggtacaTctccgttcatggatgcatta	10	12	8	11	2	4	0	2	0	2	0	6	1	4	1	1	3	3	4	1	3	3	3			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr6:4935754T>C	ENST00000328908.5	+	5	990	c.859T>C	c.(859-861)Tct>Cct	p.S287P	CDYL_ENST00000449732.2_Missense_Mutation_p.S101P|CDYL_ENST00000397588.3_Missense_Mutation_p.S233P|CDYL_ENST00000343762.5_Missense_Mutation_p.S101P|CDYL_ENST00000472453.1_3'UTR			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	287					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		GGCAGGTACATCTCCGTTCAT	0.438													19	58					0	0	1	0	0	C	4935754	T	C	4935754	3	2	106	1	0	0	0	0	1	0	0	0	3207	1435	50	3	707	3	CDYL	6	4935754	Missense_Mutation	SNP	T	TCGA-EJ-A65F-01A-21D-A30X-08		4935754	166179313	29	5501											
DSP	1832	broad.mit.edu	37	chr6	7583503	7583503	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggaagaagtcagtggaagAagttgcttctgaaatccagc	13	8	14	6	0	2	3	1	1	1	2	3	5	3	5	1	3	2	2	1	3	5	2			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr6:7583503A>G	ENST00000379802.3	+	24	6349	c.6008A>G	c.(6007-6009)gAa>gGa	p.E2003G	DSP_ENST00000418664.2_Missense_Mutation_p.E1404G	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2003	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TCAGTGGAAGAAGTTGCTTCT	0.478													25	36					0	0	1	0	0	G	7583503	A	G	7583503	3	3	106	1	0	0	0	0	1	0	0	0	4807	246	9	3	6102	3	DSP	6	7583503	Missense_Mutation	SNP	A	TCGA-EJ-A65F-01A-21D-A30X-08	2647749	7583503	163531564	30	5502											
EPHA7	2045	broad.mit.edu	37	chr6	93953242	93953242	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaccaaccagtgtgatccCtaaactcatcacatccctga	13	9	5	14	0	2	3	2	3	0	0	4	3	4	3	4	0	2	0	4	0	3	1			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr6:93953242C>T	ENST00000369303.4	-	17	3083	c.2899G>A	c.(2899-2901)Ggg>Agg	p.G967R		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	967	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		AGTGTGATCCCTAAACTCATC	0.353													8	67					0	0	1	0	0	T	93953242	C	T	93953242	3	4	106	1	0	0	0	0	1	0	0	0	5200	681	24	2	101	2	EPHA7	6	93953242	Missense_Mutation	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08	86369739	93953242	77161825	31	5503											
NOD1	10392	broad.mit.edu	37	chr7	30475683	30475683	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttcctccttctgtggagatgCcgttggacgcaagactagga	8	11	12	10	2	1	2	0	0	1	2	3	5	3	4	3	3	1	2	3	3	2	4			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr7:30475683C>T	ENST00000222823.4	-	11	3077	c.2552G>A	c.(2551-2553)gGc>gAc	p.G851D		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	851					activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						TGTGGAGATGCCGTTGGACGC	0.458													3	41					0	0	1	0	0	T	30475683	C	T	30475683	3	4	106	1	0	0	0	0	1	0	0	0	10563	739	26	2	325	2	NOD1	7	30475683	Missense_Mutation	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08		30475683	128662980	32	5504											
FAM188B	84182	broad.mit.edu	37	chr7	30821758	30821758	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gatgctcagagactacactgGtaaatatatatgacctttca	14	12	7	8	0	2	2	2	1	0	1	2	4	2	2	1	1	2	2	1	1	6	6			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr7:30821758G>C	ENST00000265299.6	+	3	426	c.349G>C	c.(349-351)Gta>Cta	p.V117L	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	117										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GACTACACTGGTAAATATATA	0.373													19	48					0	0	1	0	0	C	30821758	G	C	30821758	3	2	106	1	0	0	0	0	1	0	0	0	5546	1261	44	4	359	4	FAM188B	7	30821758	Missense_Mutation	SNP	G	TCGA-EJ-A65F-01A-21D-A30X-08	346075	30821758	128316905	33	5505											
MRPL15	29088	broad.mit.edu	37	chr8	55059977	55059977	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgttccattctttcttcgtGgacaacccattccaaaaaga	11	13	5	12	1	2	1	0	0	2	1	5	2	4	2	3	1	1	1	3	1	3	5			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr8:55059977G>T	ENST00000260102.4	+	5	663	c.589G>T	c.(589-591)Gga>Tga	p.G197*		NM_014175.3	NP_054894.1	Q9P015	RM15_HUMAN	mitochondrial ribosomal protein L15	197					translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)			CTTTCTTCGTGGACAACCCAT	0.388													3	60					1	1	1	1	0	T	55059977	G	T	55059977	4	4	106	1	0	0	0	0	0	1	0	0	9829	1349	47	4	607	4	MRPL15	8	55059977	Nonsense_Mutation	SNP	G	TCGA-EJ-A65F-01A-21D-A30X-08		55059977	91304045	34	5506											
CHD7	55636	broad.mit.edu	37	chr8	61734470	61734470	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaactaatgtccagggagcCggaaacagagcgtgtggtaa	14	6	14	7	2	0	1	0	0	0	1	1	4	1	3	2	3	4	1	2	3	4	2			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr8:61734470C>T	ENST00000423902.2	+	10	3298	c.2819C>T	c.(2818-2820)cCg>cTg	p.P940L	CHD7_ENST00000524602.1_Intron|CHD7_ENST00000525508.1_Missense_Mutation_p.P940L	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	940	Chromo 2.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TCCAGGGAGCCGGAAACAGAG	0.443													6	14					0	0	1	0	0	T	61734470	C	T	61734470	3	4	106	1	0	0	0	0	1	0	0	0	3352	652	23	1	2853	1	CHD7	8	61734470	Missense_Mutation	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08	6674493	61734470	84629552	35	5507											
SLCO5A1	81796	broad.mit.edu	37	chr8	70585422	70585422	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacccaacgaatttgaggccGgcagccaaaccaaaatacac	17	4	7	13	2	0	1	0	1	0	0	0	2	0	1	4	2	5	1	4	2	7	2			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr8:70585422G>A	ENST00000260126.3	-	10	2935	c.2229C>T	c.(2227-2229)gcC>gcT	p.A743A	SLCO5A1_ENST00000524945.1_3'UTR|SLCO5A1_ENST00000530307.1_Silent_p.A688A	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	743						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			ATTTGAGGCCGGCAGCCAAAC	0.488													41	101					0	0	1	0	0	A	70585422	G	A	70585422	2	1	106	1	0	0	0	0	0	0	0	1	14786	1103	39	1		1	SLCO5A1	8	70585422	Silent	SNP	G	TCGA-EJ-A65F-01A-21D-A30X-08	8850952	70585422	75778600	36	5508											
KCNV1	27012	broad.mit.edu	37	chr8	110980473	110980473	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttggtaagcttctttagggcTtcacgctgtctaacagctgc	7	14	10	10	1	3	0	1	0	2	0	3	0	3	0	0	2	4	5	0	2	3	7			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr8:110980473T>A	ENST00000524391.1	-	4	2379	c.1347A>T	c.(1345-1347)gaA>gaT	p.E449D	KCNV1_ENST00000297404.1_Missense_Mutation_p.E449D			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	449						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			TCTTTAGGGCTTCACGCTGTC	0.438													13	69					0	0	1	0	0	A	110980473	T	A	110980473	3	1	106	1	0	0	0	0	1	0	0	0	8138	1606	56	5	159	5	KCNV1	8	110980473	Missense_Mutation	SNP	T	TCGA-EJ-A65F-01A-21D-A30X-08	40395051	110980473	35383549	37	5509											
FAM83A	84985	broad.mit.edu	37	chr8	124195408	124195408	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctccctacagtccggcacCtacttccctgtggcctcaga	7	9	8	17	1	1	1	1	0	0	1	4	1	4	1	5	2	3	2	5	2	2	3			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr8:124195408C>A	ENST00000518448.1	+	2	2326	c.312C>A	c.(310-312)acC>acA	p.T104T	FAM83A_ENST00000522648.1_Silent_p.T104T|FAM83A_ENST00000318462.6_Silent_p.T104T|FAM83A_ENST00000546351.1_Silent_p.T104T|FAM83A_ENST00000536633.1_Silent_p.T104T|FAM83A_ENST00000276699.6_Silent_p.T104T			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	104										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			AGTCCGGCACCTACTTCCCTG	0.662													33	130					2.47316e-13	2.7823e-13	1	1	0	A	124195408	C	A	124195408	2	1	106	1	0	0	0	0	0	0	0	1	5665	668	24	4		4	FAM83A	8	124195408	Silent	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08	13214935	124195408	22168614	38	5510											
OC90	729330	broad.mit.edu	37	chr8	133036907	133036907	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acaggctgctggctgcccagGgcacccgagtctgcttgggg	5	7	16	13	1	1	0	0	0	1	0	1	1	1	0	2	5	3	5	2	5	0	1			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr8:133036907G>T	ENST00000262283.5	-	18	1990	c.1891C>A	c.(1891-1893)Cct>Act	p.P631T	OC90_ENST00000603859.1_Missense_Mutation_p.P419T|OC90_ENST00000443356.2_Missense_Mutation_p.P435T|OC90_ENST00000254627.3_Missense_Mutation_p.P419T			Q02509	OC90_HUMAN	otoconin 90	435					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			GGCTGCCCAGGGCACCCGAGT	0.632													13	27					1.05317e-09	1.15849e-09	1	1	0	T	133036907	G	T	133036907	3	4	106	1	0	0	0	0	1	0	0	0	10862	1232	43	4	182	4	OC90	8	133036907	Missense_Mutation	SNP	G	TCGA-EJ-A65F-01A-21D-A30X-08	8841499	133036907	13327115	39	5511											
BNC2	54796	broad.mit.edu	37	chr9	16419581	16419581	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaagggagggctgcgacgaGtccaggcccatgtcatcgag	9	6	15	11	3	1	0	1	0	0	0	3	4	2	1	2	3	1	1	2	3	1	1			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr9:16419581G>C	ENST00000380672.4	-	7	2763	c.2706C>G	c.(2704-2706)gaC>gaG	p.D902E	BNC2_ENST00000380667.2_Missense_Mutation_p.D835E|BNC2_ENST00000545497.1_Missense_Mutation_p.D807E	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	902					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		GCTGCGACGAGTCCAGGCCCA	0.532													36	61					0	0	1	0	0	C	16419581	G	C	16419581	3	2	106	1	0	0	0	0	1	0	0	0	1474	1020	36	4	597	4	BNC2	9	16419581	Missense_Mutation	SNP	G	TCGA-EJ-A65F-01A-21D-A30X-08		16419581	124793850	40	5512											
UNC13B	10497	broad.mit.edu	37	chr9	35382355	35382355	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggtgctgtgtttttcaggCactttgcatgtttatcatcc	5	17	10	9	1	2	0	2	0	0	0	3	0	3	0	1	2	2	5	1	2	1	5			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr9:35382355C>G	ENST00000378495.3	+	20	2632	c.2408_splice	c.e20-1	p.H804_splice	UNC13B_ENST00000378496.4_Splice_Site_p.H804_splice|UNC13B_ENST00000396787.1_Splice_Site_p.H816_splice	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	804					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GTTTTTCAGGCACTTTGCATG	0.488													19	54					0	0	1	0	0	G	35382355	C	G	35382355	5	3	106	1	0	0	0	0	0	0	1	0	17045	724	25	4	2488	4	UNC13B	9	35382355	Splice_Site	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08	18962774	35382355	105831076	41	5513											
FRMPD1	22844	broad.mit.edu	37	chr9	37740677	37740677	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccagtgtctccccggccagcTacctgagtgacagttccgag	7	8	11	15	2	1	2	0	2	1	0	3	3	2	2	6	1	2	2	6	1	1	2			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr9:37740677T>A	ENST00000539465.1	+	15	2745	c.2152T>A	c.(2152-2154)Tac>Aac	p.Y718N	FRMPD1_ENST00000536622.1_Missense_Mutation_p.Y540N|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.Y718N|FRMPD1_ENST00000541302.1_Missense_Mutation_p.Y587N			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	718						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CCCGGCCAGCTACCTGAGTGA	0.637													16	17					0	0	1	0	0	A	37740677	T	A	37740677	3	1	106	1	0	0	0	0	1	0	0	0	6092	1522	53	5	2206	5	FRMPD1	9	37740677	Missense_Mutation	SNP	T	TCGA-EJ-A65F-01A-21D-A30X-08	2358322	37740677	103472754	42	5514											
GRIN3A	116443	broad.mit.edu	37	chr9	104432660	104432660	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agagccacaaaaatccccagCcacattgtccagtggagtgg	13	6	10	12	0	0	1	0	0	0	1	2	2	2	2	5	2	2	0	5	2	2	1			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr9:104432660C>T	ENST00000361820.3	-	3	2634	c.2034G>A	c.(2032-2034)tgG>tgA	p.W678*		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	678					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	AAATCCCCAGCCACATTGTCC	0.522													34	108					0	0	1	0	0	T	104432660	C	T	104432660	4	4	106	1	0	0	0	0	0	1	0	0	6824	740	26	2	1341	2	GRIN3A	9	104432660	Nonsense_Mutation	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08	66691983	104432660	36780771	43	5515											
AMBP	259	broad.mit.edu	37	chr9	116825038	116825054	+	Splice_Site	DEL	TCTGCGGGGGAGAGAAA	TCTGCGGGGGAGAGAAA	-																															tagcacagccctccggactcTctgcgggggagagaaagaga																										TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr9:116825038_116825054delTCTGCGGGGGAGAGAAA	ENST00000265132.3	-	7	866	c.603_splice	c.e7-1	p.202_splice		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	202					cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	CTCCGGACTCTCTGCGGGGGAGAGAAAGAGAAGAAGC	0.498													7	63	---	---	---	---						-	116825054	TCTGCGGGGGAGAGAAA	-	116825038	8	5	106	1	0	1	0	1	0	0	1	0	560	1565	54	0	470	0	AMBP	9	116825038	Splice_Site	DEL	TCTGCGGGGGAGAGAAA	TCGA-EJ-A65F-01A-21D-A30X-08	12392378	116825038	24388393	44	5516											
PSMD5	5711	broad.mit.edu	37	chr9	123586854	123586854	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctacaccaatcatagtgggGtcctgactttctatcatttc	9	14	7	11	0	3	1	2	1	1	0	5	1	4	1	2	2	1	1	2	2	4	5			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr9:123586854G>C	ENST00000210313.3	-	7	998	c.924C>G	c.(922-924)gaC>gaG	p.D308E	PSMD5_ENST00000373904.5_Missense_Mutation_p.D265E	NM_001270427.1|NM_005047.3	NP_001257356.1|NP_005038.1	Q16401	PSMD5_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 5	308					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)	10						TCATAGTGGGGTCCTGACTTT	0.418													8	112					0	0	1	0	0	C	123586854	G	C	123586854	3	2	106	1	0	0	0	0	1	0	0	0	12750	1252	44	4	606	4	PSMD5	9	123586854	Missense_Mutation	SNP	G	TCGA-EJ-A65F-01A-21D-A30X-08	6761816	123586854	17626577	45	5517											
RABGAP1	23637	broad.mit.edu	37	chr9	125751730	125751730	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcagaatacacgtcttcCggtgtgaaatacaagaagct	13	11	8	9	2	3	3	1	1	2	2	4	3	4	3	1	1	3	1	1	1	6	4			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr9:125751730C>T	ENST00000373647.4	+	5	879	c.745C>T	c.(745-747)Cgg>Tgg	p.R249W		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	249	PID.				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						ACACGTCTTCCGGTGTGAAAT	0.418													14	45					0	0	1	0	0	T	125751730	C	T	125751730	3	4	106	1	0	0	0	0	1	0	0	0	13016	643	23	1	759	1	RABGAP1	9	125751730	Missense_Mutation	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08	2164876	125751730	15461701	46	5518											
PPP2R4	5524	broad.mit.edu	37	chr9	131885404	131885404	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagaagctgaccttcgagtAcagagtctccgaggtaggcc	11	7	13	10	2	1	3	0	1	1	2	3	6	1	3	3	2	2	3	3	2	4	3			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr9:131885404A>G	ENST00000337738.1	+	3	470	c.203A>G	c.(202-204)tAc>tGc	p.Y68C	PPP2R4_ENST00000347048.4_Intron|PPP2R4_ENST00000355007.3_Missense_Mutation_p.Y68C|PPP2R4_ENST00000393370.2_Missense_Mutation_p.Y68C|PPP2R4_ENST00000357197.4_Intron|PPP2R4_ENST00000348141.5_Missense_Mutation_p.Y74C|PPP2R4_ENST00000358994.4_Missense_Mutation_p.Y68C|PPP2R4_ENST00000452489.2_Missense_Mutation_p.Y68C	NM_178001.2	NP_821068.1	Q15257	PTPA_HUMAN	protein phosphatase 2A activator, regulatory subunit 4	68					ATP catabolic process|negative regulation of phosphoprotein phosphatase activity|negative regulation of protein dephosphorylation|positive regulation of apoptosis|positive regulation of phosphoprotein phosphatase activity|positive regulation of protein dephosphorylation	calcium channel complex|cytoplasm|nucleus|protein phosphatase type 2A complex|soluble fraction	ATP binding|peptidyl-prolyl cis-trans isomerase activity|protein heterodimerization activity|protein homodimerization activity|protein phosphatase 2A binding|protein phosphatase type 2A regulator activity|protein tyrosine phosphatase activator activity|receptor binding			breast(3)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12		Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		ACCTTCGAGTACAGAGTCTCC	0.532													4	168					0	0	1	0	0	G	131885404	A	G	131885404	3	3	106	1	0	0	0	0	1	0	0	0	12440	391	14	3	213	3	PPP2R4	9	131885404	Missense_Mutation	SNP	A	TCGA-EJ-A65F-01A-21D-A30X-08	6133674	131885404	9328027	47	5519											
FAM178A	0	broad.mit.edu	37	chr10	102684617	102684618	+	Frame_Shift_Ins	INS	-	-	TA																															agtgatgaggaagaggaaacINSattaaagtcactggaagaaa																										TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr10:102684617_102684618insTA	ENST00000238961.3	+	5	2007_2008	c.1859_1860insTA	c.(1858-1860)attfs	p.I620fs	FAM178A_ENST00000370269.3_Frame_Shift_Ins_p.I620fs|FAM178A_ENST00000370271.3_Frame_Shift_Ins_p.I620fs	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	620																	GAAGAGGAAACATTAAAGTCAC	0.416													31	77	---	---	---	---						TA	102684618	-	TA	102684617	7	5	106	1	0	1	1	0	0	0	0	0	5533	478	17	0	1877	0	FAM178A	10	102684617	Frame_Shift_Ins	INS	-	TCGA-EJ-A65F-01A-21D-A30X-08		102684617	32850130	48	5520											
TACC2	10579	broad.mit.edu	37	chr10	123970866	123970866	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagatgaaaaagacacccgAgaaacttgacaacactcctg	19	5	7	10	1	0	5	0	2	0	3	1	6	1	5	2	0	2	0	2	0	5	1			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr10:123970866A>T	ENST00000369005.1	+	9	7266	c.6926A>T	c.(6925-6927)gAg>gTg	p.E2309V	TACC2_ENST00000369004.3_Missense_Mutation_p.E387V|TACC2_ENST00000260733.3_Missense_Mutation_p.E387V|TACC2_ENST00000369000.1_Missense_Mutation_p.E13V|TACC2_ENST00000368999.1_Missense_Mutation_p.E387V|TACC2_ENST00000358010.1_Missense_Mutation_p.E455V|TACC2_ENST00000369001.1_Missense_Mutation_p.E13V|TACC2_ENST00000453444.2_Missense_Mutation_p.E2313V|TACC2_ENST00000515603.1_Missense_Mutation_p.E2264V|TACC2_ENST00000515273.1_Missense_Mutation_p.E2313V|TACC2_ENST00000513429.1_Missense_Mutation_p.E455V|TACC2_ENST00000360561.3_Missense_Mutation_p.E387V|TACC2_ENST00000334433.3_Missense_Mutation_p.E2309V	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2309						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AAGACACCCGAGAAACTTGAC	0.493													40	74					0	0	1	0	0	T	123970866	A	T	123970866	3	4	106	1	0	0	0	0	1	0	0	0	15559	304	11	5	7028	5	TACC2	10	123970866	Missense_Mutation	SNP	A	TCGA-EJ-A65F-01A-21D-A30X-08	21286249	123970866	11563881	49	5521											
ADAM12	8038	broad.mit.edu	37	chr10	127730776	127730776	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggccctggccgcgctccctGttggactctgcagcttcctg	2	11	12	16	2	1	0	0	0	1	0	3	1	3	1	4	3	2	4	4	3	0	2			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr10:127730776G>A	ENST00000368676.4	-	19	2451	c.2142C>T	c.(2140-2142)aaC>aaT	p.N714N	ADAM12_ENST00000368679.4_Intron	NM_021641.3	NP_067673.2	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	0					cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CGCGCTCCCTGTTGGACTCTG	0.562													5	41					0	0	1	0	0	A	127730776	G	A	127730776	2	1	106	1	0	0	0	0	0	0	0	1	235	1368	48	2		2	ADAM12	10	127730776	Silent	SNP	G	TCGA-EJ-A65F-01A-21D-A30X-08	3759910	127730776	7803971	50	5522											
OR56A4	120793	broad.mit.edu	37	chr11	6024110	6024110	+	Frame_Shift_Del	DEL	A	A	-																															tagctcccatggccaggaggAagagaaggctgaggggcaga																										TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr11:6024110delA	ENST00000330728.4	-	1	314	c.269delT	c.(268-270)tcfs	p.F90fs		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCCAGGAGGAAGAGAAGGCT	0.592													17	38	---	---	---	---						-	6024110	A	-	6024110	7	5	106	1	0	1	0	1	0	0	0	0	11183	246	9	0	830	0	OR56A4	11	6024110	Frame_Shift_Del	DEL	A	TCGA-EJ-A65F-01A-21D-A30X-08		6024110	128982406	51	5523											
SPON1	10418	broad.mit.edu	37	chr11	13984532	13984532	+	RNA	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccctggccgcggcgctGgccttctccgacgagaccct	3	7	12	19	5	1	1	0	0	1	1	2	3	1	1	6	3	1	1	6	3	0	1			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr11:13984532G>C	ENST00000310358.7	+	0	619							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		CCGCGGCGCTGGCCTTCTCCG	0.706													6	14					0	0	1	0	0	C	13984532	G	C	13984532	1	2	106	0	1	0	0	0	0	0	0	0	15138	1335	47	4		4	SPON1	11	13984532	RNA	SNP	G	TCGA-EJ-A65F-01A-21D-A30X-08	7960422	13984532	121021984	52	5524											
MRGPRX1	259249	broad.mit.edu	37	chr11	18955439	18955439	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccttcatccacctcagacGcgtcctgcagagccctctgg	7	8	8	18	2	3	2	2	0	1	2	5	2	5	2	5	1	2	1	5	1	0	1			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr11:18955439G>A	ENST00000302797.3	-	1	1117	c.893C>T	c.(892-894)gCg>gTg	p.A298V		NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	298				AS -> TP (in Ref. 2; AAL86880).	acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CACCTCAGACGCGTCCTGCAG	0.562													21	36					0	0	1	0	0	A	18955439	G	A	18955439	3	1	106	1	0	0	0	0	1	0	0	0	9815	1087	38	1	79	1	MRGPRX1	11	18955439	Missense_Mutation	SNP	G	TCGA-EJ-A65F-01A-21D-A30X-08	4970907	18955439	116051077	53	5525											
LRP4	4038	broad.mit.edu	37	chr11	46917845	46917845	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctgcccaatgcagcgccCattccaacacaggaactggt	10	7	8	16	1	1	0	0	0	1	0	2	1	2	1	4	2	5	1	4	2	3	1			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr11:46917845C>G	ENST00000378623.1	-	9	1206	c.964G>C	c.(964-966)Ggg>Cgg	p.G322R		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	322	LDL-receptor class A 8.				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		ATGCAGCGCCCATTCCAACAC	0.577													33	67					0	0	1	0	0	G	46917845	C	G	46917845	3	3	106	1	0	0	0	0	1	0	0	0	9004	594	21	4	4873	4	LRP4	11	46917845	Missense_Mutation	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08	27962406	46917845	88088671	54	5526											
LRMP	4033	broad.mit.edu	37	chr12	25260815	25260815	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagaaaggctaataaggccCtctggctctctattgcattc	10	12	8	11	0	3	1	1	0	2	1	5	1	3	1	1	3	1	3	1	3	4	5			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr12:25260815C>T	ENST00000354454.3	+	21	2150	c.1321C>T	c.(1321-1323)Ctc>Ttc	p.L441F	LRMP_ENST00000548766.1_Missense_Mutation_p.L441F|LRMP_ENST00000547044.1_Missense_Mutation_p.L441F	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	497					vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					TAATAAGGCCCTCTGGCTCTC	0.438													19	71					0	0	1	0	0	T	25260815	C	T	25260815	3	4	106	1	0	0	0	0	1	0	0	0	8995	681	24	2	1387	2	LRMP	12	25260815	Missense_Mutation	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08		25260815	108591080	55	5527											
PLXNC1	10154	broad.mit.edu	37	chr12	94637768	94637768	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttgatgtaattgacaacttAatcatttcacatgaattaaa	16	16	4	5	0	2	3	2	3	0	0	2	3	2	3	0	0	1	1	0	0	6	6			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr12:94637768A>T	ENST00000258526.4	+	12	2604	c.2355A>T	c.(2353-2355)ttA>ttT	p.L785F		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	785					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TTGACAACTTAATCATTTCAC	0.328													18	24					0	0	1	0	0	T	94637768	A	T	94637768	3	4	106	1	0	0	0	0	1	0	0	0	12174	359	13	5	2401	5	PLXNC1	12	94637768	Missense_Mutation	SNP	A	TCGA-EJ-A65F-01A-21D-A30X-08	69376953	94637768	39214127	56	5528											
IQCD	115811	broad.mit.edu	37	chr12	113645503	113645503	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggggttgctgagcaagagtcTaaggacgttcttggtggagt	8	11	17	5	1	2	2	0	1	2	1	2	4	2	4	0	5	2	4	0	5	2	4			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr12:113645503T>C	ENST00000546692.1	-	2	842	c.469A>G	c.(469-471)Aga>Gga	p.R157G	IQCD_ENST00000416617.2_Missense_Mutation_p.R157G|IQCD_ENST00000299732.2_Missense_Mutation_p.R157G			Q96DY2	IQCD_HUMAN	IQ motif containing D	157										endometrium(2)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						AGCAAGAGTCTAAGGACGTTC	0.527													12	131					0	0	1	0	0	C	113645503	T	C	113645503	3	2	106	1	0	0	0	0	1	0	0	0	7849	1530	53	3	582	3	IQCD	12	113645503	Missense_Mutation	SNP	T	TCGA-EJ-A65F-01A-21D-A30X-08	19007735	113645503	20206392	57	5529											
NOS1	4842	broad.mit.edu	37	chr12	117660556	117660556	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcccgggagtaagccgtgtaCagctctctgaagaccccctt	8	9	10	14	2	1	2	0	1	1	1	3	3	2	3	4	1	3	3	4	1	3	3			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr12:117660556C>T	ENST00000317775.6	-	26	4624	c.3939G>A	c.(3937-3939)ctG>ctA	p.L1313L	NOS1_ENST00000338101.4_Silent_p.L1347L|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	1313					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	AAGCCGTGTACAGCTCTCTGA	0.577													8	189					0	0	1	0	0	T	117660556	C	T	117660556	2	4	106	1	0	0	0	0	0	0	0	1	10588	465	17	2		2	NOS1	12	117660556	Silent	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08	4015053	117660556	16191339	58	5530											
GPR133	283383	broad.mit.edu	37	chr12	131490521	131490521	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tctgctctctctgcagcctgGagcaccgtcgtgggtctgct	3	12	12	14	2	4	0	0	0	4	0	6	1	4	1	2	2	5	4	2	2	0	0			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr12:131490521G>C	ENST00000261654.5	+	12	1819	c.1260G>C	c.(1258-1260)tgG>tgC	p.W420C	GPR133_ENST00000376682.4_Missense_Mutation_p.W106C|GPR133_ENST00000535015.1_Missense_Mutation_p.W452C	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	420					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CTGCAGCCTGGAGCACCGTCG	0.642													14	30					0	0	1	0	0	C	131490521	G	C	131490521	3	2	106	1	0	0	0	0	1	0	0	0	6683	1183	41	4	1306	4	GPR133	12	131490521	Missense_Mutation	SNP	G	TCGA-EJ-A65F-01A-21D-A30X-08	13829965	131490521	2361374	59	5531											
ANKLE2	23141	broad.mit.edu	37	chr12	133324779	133324779	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gataccgggggttgctccagAtaaggtcagaaaaggtgtcc	11	8	14	8	1	1	2	1	0	0	2	3	3	3	2	3	4	2	2	3	4	4	3			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr12:133324779A>G	ENST00000539605.1	-	3	7484	c.800T>C	c.(799-801)aTc>aCc	p.I267T	ANKLE2_ENST00000337516.5_Missense_Mutation_p.I329T|ANKLE2_ENST00000357997.5_Missense_Mutation_p.I329T			Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	329						cytoplasm|integral to membrane|nuclear envelope				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		GTTGCTCCAGATAAGGTCAGA	0.597													8	29					0	0	1	0	0	G	133324779	A	G	133324779	3	3	106	1	0	0	0	0	1	0	0	0	629	333	12	3	1870	3	ANKLE2	12	133324779	Missense_Mutation	SNP	A	TCGA-EJ-A65F-01A-21D-A30X-08	1834258	133324779	527116	60	5532											
CDH24	64403	broad.mit.edu	37	chr14	23522821	23522821	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgggtgaaggcaggtggCtctggggcatcttgcactgc	5	9	17	10	0	2	1	0	1	2	0	2	1	2	1	1	6	2	4	1	6	1	1			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr14:23522821C>T	ENST00000397359.3	-	7	1369	c.1110G>A	c.(1108-1110)gaG>gaA	p.E370E	CDH24_ENST00000267383.5_Silent_p.E370E|CDH24_ENST00000554034.1_Silent_p.E370E|CDH24_ENST00000487137.2_Silent_p.E370E	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN	cadherin 24, type 2	370	Cadherin 3.				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		AGGCAGGTGGCTCTGGGGCAT	0.647													28	57					0	0	1	0	0	T	23522821	C	T	23522821	2	4	106	1	0	0	0	0	0	0	0	1	3131	796	28	2		2	CDH24	14	23522821	Silent	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08		23522821	83826719	61	5533											
BTBD7	55727	broad.mit.edu	37	chr14	93709033	93709033	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttttttaggagacgtctgAccaggtaggtaggctgactt	8	14	13	6	1	1	3	0	2	1	1	1	4	1	3	1	4	0	4	1	4	3	6			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr14:93709033A>T	ENST00000334746.5	-	11	3292	c.2985T>A	c.(2983-2985)ggT>ggA	p.G995G	BTBD7_ENST00000393170.2_Silent_p.G569G|BTBD7_ENST00000554565.1_Silent_p.G644G	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	995										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		GAGACGTCTGACCAGGTAGGT	0.498													9	119					0	0	1	0	0	T	93709033	A	T	93709033	2	4	106	1	0	0	0	0	0	0	0	1	1549	262	10	5		5	BTBD7	14	93709033	Silent	SNP	A	TCGA-EJ-A65F-01A-21D-A30X-08	70186212	93709033	13640507	62	5534											
UNC13C	440279	broad.mit.edu	37	chr15	54792334	54792334	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacgaagatgtgtcaatggaAttccttcatggagcactggg	12	10	12	7	1	2	1	2	0	0	1	3	4	3	3	1	3	2	1	1	3	4	2			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr15:54792334A>G	ENST00000545554.1	+	20	5118	c.5118A>G	c.(5116-5118)gaA>gaG	p.E1706E	UNC13C_ENST00000537900.1_Silent_p.E1704E|UNC13C_ENST00000260323.11_Silent_p.E1706E			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1706	MHD1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TGTCAATGGAATTCCTTCATG	0.348													14	16					0	0	1	0	0	G	54792334	A	G	54792334	2	3	106	1	0	0	0	0	0	0	0	1	17046	98	4	3		3	UNC13C	15	54792334	Silent	SNP	A	TCGA-EJ-A65F-01A-21D-A30X-08		54792334	47739058	63	5535											
ZWILCH	55055	broad.mit.edu	37	chr15	66821854	66821854	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgatttcataccaagacttGgtgaagtgtttcacattgat	11	15	9	6	0	2	4	2	3	0	1	2	4	2	4	1	1	1	1	1	1	3	5			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr15:66821854G>A	ENST00000307897.5	+	12	1478	c.1098G>A	c.(1096-1098)ttG>ttA	p.L366L	ZWILCH_ENST00000535141.2_Silent_p.L252L|ZWILCH_ENST00000446801.2_Silent_p.L252L|ZWILCH_ENST00000565627.1_Silent_p.L252L	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN	zwilch kinetochore protein	366					cell division|mitotic cell cycle checkpoint|mitotic prometaphase	condensed chromosome kinetochore|cytosol	protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						ACCAAGACTTGGTGAAGTGTT	0.368													20	39					0	0	1	0	0	A	66821854	G	A	66821854	2	1	106	1	0	0	0	0	0	0	0	1	18288	1339	47	2		2	ZWILCH	15	66821854	Silent	SNP	G	TCGA-EJ-A65F-01A-21D-A30X-08	12029520	66821854	35709538	64	5536											
SNX33	257364	broad.mit.edu	37	chr15	75941791	75941791	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaggatgatgatgatgaCtgggatgactgggacgacgg	11	7	19	4	2	0	5	0	5	0	0	0	11	0	9	0	5	0	0	0	5	0	0			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr15:75941791C>T	ENST00000308527.5	+	1	1545	c.348C>T	c.(346-348)gaC>gaT	p.D116D		NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	116	Poly-Asp.				cell communication		phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						ATGATGATGACTGGGATGACT	0.622													4	127					0	0	1	0	0	T	75941791	C	T	75941791	2	4	106	1	0	0	0	0	0	0	0	1	14957	564	20	2		2	SNX33	15	75941791	Silent	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08	9119937	75941791	26589601	65	5537											
RHCG	51458	broad.mit.edu	37	chr15	90016010	90016010	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agccatgggtagtggggacaCcatgggtactgagggtactg	9	8	17	7	0	0	1	0	1	0	0	0	2	0	2	2	5	3	3	2	5	3	3			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr15:90016010C>A	ENST00000268122.4	-	10	1464	c.1396G>T	c.(1396-1398)Gtg>Ttg	p.V466L	RHCG_ENST00000544600.1_Intron	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	466					amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport	apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					AGTGGGGACACCATgggtact	0.597													4	1					0.00909568	0.00928322	1	1	0	A	90016010	C	A	90016010	3	1	106	1	0	0	0	0	1	0	0	0	13376	507	18	4	47	4	RHCG	15	90016010	Missense_Mutation	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08	14074219	90016010	12515382	66	5538											
OR4F6	390648	broad.mit.edu	37	chr15	102346462	102346470	+	In_Frame_Del	DEL	TCTTCCTCG	TCTTCCTCG	-																															ttagatagtttcttttgtgaTcttcctcgatttatcaaact																										TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr15:102346462_102346470delTCTTCCTCG	ENST00000328882.4	+	1	561_569	c.540_548delTCTTCCTCG	c.(538-549)gaa>ga	p.DLPR180del		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TCTTTTGTGATCTTCCTCGATTTATCAAA	0.368													14	108	---	---	---	---						-	102346470	TCTTCCTCG	-	102346462	7	5	106	1	0	1	0	1	0	0	0	0	11114	1432	50	0	542	0	OR4F6	15	102346462	In_Frame_Del	DEL	TCTTCCTCG	TCGA-EJ-A65F-01A-21D-A30X-08	12330452	102346462	184930	67	5539											
FAM173A	65990	broad.mit.edu	37	chr16	771822	771822	+	Frame_Shift_Del	DEL	G	G	-																															tgctggcggcccacaggtgcGgcctccgcccggccgtgggc																										TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr16:771822delG	ENST00000564000.1	+	3	467	c.289delG	c.(289-291)gcfs	p.G97fs	FAM173A_ENST00000569529.1_Frame_Shift_Del_p.G97fs|FAM173A_ENST00000219535.3_Frame_Shift_Del_p.G97fs			Q9BQD7	F173A_HUMAN	family with sequence similarity 173, member A	97						integral to membrane				pancreas(1)	1						CCACAGGTGCGGCCTCCGCCC	0.746													2	4	---	---	---	---						-	771822	G	-	771822	7	5	106	1	0	1	0	1	0	0	0	0	5523	1116	39	0	299	0	FAM173A	16	771822	Frame_Shift_Del	DEL	G	TCGA-EJ-A65F-01A-21D-A30X-08		771822	89582931	68	5540											
KIAA0430	9665	broad.mit.edu	37	chr16	15729800	15729800	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcaggaagacaggttactctCtagacacatgctgggaaagt	13	8	12	8	0	1	2	0	0	1	2	2	4	1	4	0	3	2	3	0	3	4	2			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr16:15729800C>G	ENST00000396368.3	-	3	750	c.544G>C	c.(544-546)Gag>Cag	p.E182Q	KIAA0430_ENST00000602337.1_Missense_Mutation_p.E182Q|KIAA0430_ENST00000551742.1_Missense_Mutation_p.E182Q|KIAA0430_ENST00000344181.3_Missense_Mutation_p.E4Q|KIAA0430_ENST00000548025.1_Missense_Mutation_p.E182Q|KIAA0430_ENST00000540441.2_Missense_Mutation_p.E182Q	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	181						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						AGGTTACTCTCTAGACACATG	0.488													22	79					0	0	1	0	0	G	15729800	C	G	15729800	3	3	106	1	0	0	0	0	1	0	0	0	8219	922	32	4	4787	4	KIAA0430	16	15729800	Missense_Mutation	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08	14957978	15729800	74624953	69	5541											
CHD9	80205	broad.mit.edu	37	chr16	53190625	53190625	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtttctggtccacatagagtCaatgttaaccacccaccaca	12	10	6	13	0	2	1	1	0	1	1	3	1	3	1	4	1	1	2	4	1	3	3			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr16:53190625C>T	ENST00000566029.1	+	2	833	c.624C>T	c.(622-624)gtC>gtT	p.V208V	CHD9_ENST00000564845.1_Silent_p.V208V|CHD9_ENST00000447540.1_Silent_p.V208V|CHD9_ENST00000398510.3_Silent_p.V208V			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	208				V -> A (in Ref. 3; AAT66509).	cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				CACATAGAGTCAATGTTAACC	0.388													45	93					0	0	1	0	0	T	53190625	C	T	53190625	2	4	106	1	0	0	0	0	0	0	0	1	3354	813	29	2		2	CHD9	16	53190625	Silent	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08	37460825	53190625	37164128	70	5542											
KIFC3	3801	broad.mit.edu	37	chr16	57803814	57803814	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcttccagggactgcatCtcctccagcatctgcccatg	6	11	7	17	0	3	0	0	0	3	0	7	1	6	1	5	1	3	2	5	1	0	1			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr16:57803814C>A	ENST00000379655.4	-	8	1250	c.993G>T	c.(991-993)gaG>gaT	p.E331D	KIFC3_ENST00000465878.2_Missense_Mutation_p.E192D|KIFC3_ENST00000539578.1_Missense_Mutation_p.E273D|KIFC3_ENST00000543930.1_Missense_Mutation_p.E192D|KIFC3_ENST00000421376.2_Missense_Mutation_p.E192D|KIFC3_ENST00000445690.2_Missense_Mutation_p.E331D|KIFC3_ENST00000541240.1_Missense_Mutation_p.E353D|KIFC3_ENST00000562903.1_Missense_Mutation_p.E192D|KIFC3_ENST00000540079.2_Missense_Mutation_p.E229D	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	331					epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				GGGACTGCATCTCCTCCAGCA	0.597													6	35					0.0293803	0.0296801	1	1	0	A	57803814	C	A	57803814	3	1	106	1	0	0	0	0	1	0	0	0	8356	912	32	4	1565	4	KIFC3	16	57803814	Missense_Mutation	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08	4613189	57803814	32550939	71	5543											
RABEP1	9135	broad.mit.edu	37	chr17	5266210	5266210	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attttggtgcccttcaggtaCataatgctggaaataaactt	12	14	8	7	0	1	0	1	0	0	0	1	1	1	1	1	3	4	2	1	3	5	7			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr17:5266210C>T	ENST00000262477.6	+	10	1791	c.1567C>T	c.(1567-1569)Cat>Tat	p.H523Y	RABEP1_ENST00000341923.6_Missense_Mutation_p.H523Y|NUP88_ENST00000573169.1_Intron|RABEP1_ENST00000546142.2_Missense_Mutation_p.H523Y|RABEP1_ENST00000537505.1_Missense_Mutation_p.H480Y|RABEP1_ENST00000408982.2_Missense_Mutation_p.H523Y	NM_004703.4	NP_004694.2	Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	523					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						CCTTCAGGTACATAATGCTGG	0.398													11	25					0	0	1	0	0	T	5266210	C	T	5266210	3	4	106	1	0	0	0	0	1	0	0	0	13013	478	17	2	1605	2	RABEP1	17	5266210	Missense_Mutation	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08		5266210	75929000	72	5544											
UBB	7314	broad.mit.edu	37	chr17	16285560	16285560	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggataaagaaggcatcccTcccgaccagcagaggctcat	13	5	10	13	1	1	2	1	0	0	2	3	4	3	3	3	3	1	3	3	3	3	1			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr17:16285560T>C	ENST00000302182.3	+	2	731	c.339T>C	c.(337-339)ccT>ccC	p.P113P	UBB_ENST00000395837.1_Silent_p.P113P|UBB_ENST00000578649.1_Intron|UBB_ENST00000535788.1_Intron|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000395839.1_Silent_p.P113P	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN	ubiquitin B	113	Ubiquitin-like 2.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AAGGCATCCCTCCCGACCAGC	0.557													5	108					0	0	1	0	0	C	16285560	T	C	16285560	2	2	106	1	0	0	0	0	0	0	0	1	16902	1538	54	3		3	UBB	17	16285560	Silent	SNP	T	TCGA-EJ-A65F-01A-21D-A30X-08	11019350	16285560	64909650	73	5545											
ZNF287	57336	broad.mit.edu	37	chr17	16455883	16455885	+	In_Frame_Del	DEL	GAA	GAA	-																															agtatgtattttttgatgctGaagaaggtgtgtactctgac																										TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr17:16455883_16455885delGAA	ENST00000395824.1	-	6	2188_2190	c.1571_1573delTTC	c.(1570-1575)cag>c	p.LQ524del	ZNF287_ENST00000395825.3_In_Frame_Del_p.LQ524del			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	517					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		TTTTGATGCTGAAGAAGGTGTGT	0.35													23	74	---	---	---	---						-	16455885	GAA	-	16455883	7	5	106	1	0	1	0	1	0	0	0	0	17882	1299	45	0	716	0	ZNF287	17	16455883	In_Frame_Del	DEL	GAA	TCGA-EJ-A65F-01A-21D-A30X-08	170323	16455883	64739327	74	5546											
FBXW10	10517	broad.mit.edu	37	chr17	18651268	18651268	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcagggctcaatcaagacAtcacagatgtgtgtttttcc	10	14	8	9	0	4	2	4	0	0	2	5	2	5	2	1	1	0	2	1	1	2	3			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr17:18651268A>T	ENST00000308799.4	+	2	739	c.520A>T	c.(520-522)Atc>Ttc	p.I174F	FBXW10_ENST00000301938.4_Missense_Mutation_p.I174F|FBXW10_ENST00000395667.1_Missense_Mutation_p.I174F|FBXW10_ENST00000395665.4_Missense_Mutation_p.I174F			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	174										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						CAATCAAGACATCACAGATGT	0.453													10	22					0	0	1	0	0	T	18651268	A	T	18651268	3	4	106	1	0	0	0	0	1	0	0	0	5796	217	8	5	526	5	FBXW10	17	18651268	Missense_Mutation	SNP	A	TCGA-EJ-A65F-01A-21D-A30X-08	2195385	18651268	62543942	75	5547											
ABCA5	23461	broad.mit.edu	37	chr17	67270183	67270183	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatataagtctggaacaagtTtgatgggaaccacagcattt	15	11	9	6	0	1	1	0	1	1	0	1	3	1	3	1	2	3	2	1	2	6	4			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr17:67270183T>A	ENST00000392676.3	-	20	2745	c.2681A>T	c.(2680-2682)aAa>aTa	p.K894I	ABCA5_ENST00000392677.2_Missense_Mutation_p.K894I|ABCA5_ENST00000588877.1_Missense_Mutation_p.K894I			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	894					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					TGGAACAAGTTTGATGGGAAC	0.333													19	62					0	0	1	0	0	A	67270183	T	A	67270183	3	1	106	1	0	0	0	0	1	0	0	0	35	1841	64	5	2327	5	ABCA5	17	67270183	Missense_Mutation	SNP	T	TCGA-EJ-A65F-01A-21D-A30X-08	48618915	67270183	13925027	76	5548											
CDH19	28513	broad.mit.edu	37	chr18	64235814	64235814	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcttaagatgtagagggatCgctcctctctatcaagcttc	9	13	8	11	1	3	2	1	0	2	2	7	3	4	3	1	1	1	3	1	1	4	4			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr18:64235814C>T	ENST00000262150.2	-	3	621	c.329G>A	c.(328-330)cGa>cAa	p.R110Q	CDH19_ENST00000540086.1_Missense_Mutation_p.R110Q	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	110	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				GTAGAGGGATCGCTCCTCTCT	0.438													7	79					0	0	1	0	0	T	64235814	C	T	64235814	3	4	106	1	0	0	0	0	1	0	0	0	3126	884	31	1	2029	1	CDH19	18	64235814	Missense_Mutation	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08		64235814	13841434	77	5549											
ICAM4	3386	broad.mit.edu	37	chr19	10398291	10398291	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgctgccacgtgacgcaggtGttcccggtgggctacttggt	4	10	15	12	4	0	1	0	1	0	0	1	1	1	1	2	4	2	4	2	4	1	3			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr19:10398291G>T	ENST00000340992.4	+	2	436	c.397G>T	c.(397-399)Gtt>Ttt	p.V133F	CTD-2369P2.8_ENST00000589379.1_RNA|ICAM4_ENST00000380770.3_Silent_p.V158V|ICAM4_ENST00000393717.2_Silent_p.V158V	NM_001039132.2	NP_001034221.1	Q14773	ICAM4_HUMAN	intercellular adhesion molecule 4 (Landsteiner-Wiener blood group)	133					cell-cell adhesion|regulation of immune response	extracellular region|integral to membrane|plasma membrane	integrin binding			breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			TGACGCAGGTGTTCCCGGTGG	0.597													16	33					0.00074312	0.000782648	1	1	0	T	10398291	G	T	10398291	3	4	106	1	0	0	0	0	1	0	0	0	7526	1377	48	4	480	4	ICAM4	19	10398291	Missense_Mutation	SNP	G	TCGA-EJ-A65F-01A-21D-A30X-08		10398291	48730692	78	5550											
ZNF93	81931	broad.mit.edu	37	chr19	20044389	20044389	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtgaagaatgtggcaaaGcctttaagtactcctctgcc	10	13	9	9	0	1	2	0	1	1	1	2	2	2	2	3	1	3	2	3	1	5	4			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr19:20044389G>A	ENST00000343769.5	+	4	653	c.625G>A	c.(625-627)Gcc>Acc	p.A209T	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	209						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						ATGTGGCAAAGCCTTTAAGTA	0.373													13	20					0	0	1	0	0	A	20044389	G	A	20044389	3	1	106	1	0	0	0	0	1	0	0	0	18244	971	34	2	639	2	ZNF93	19	20044389	Missense_Mutation	SNP	G	TCGA-EJ-A65F-01A-21D-A30X-08	9646098	20044389	39084594	79	5551											
NLRP8	126205	broad.mit.edu	37	chr19	56482027	56482027	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccctggagaactgtggggcGtattacctgtctgtggccca	6	11	13	11	1	1	1	0	0	1	1	2	2	2	1	3	4	2	1	3	4	3	2			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr19:56482027G>A	ENST00000291971.3	+	6	2570	c.2499G>A	c.(2497-2499)gcG>gcA	p.A833A	NLRP8_ENST00000590542.1_Silent_p.A833A	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	833						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		ACTGTGGGGCGTATTACCTGT	0.473													56	106					0	0	1	0	0	A	56482027	G	A	56482027	2	1	106	1	0	0	0	0	0	0	0	1	10530	1132	40	1		1	NLRP8	19	56482027	Silent	SNP	G	TCGA-EJ-A65F-01A-21D-A30X-08	36437638	56482027	2646956	80	5552											
ZNFX1	57169	broad.mit.edu	37	chr20	47866085	47866085	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agaagagctgcccggtatagGtagtgaggatggtgatctgg	10	9	17	5	1	1	4	0	2	1	2	1	5	1	5	1	5	2	3	1	5	4	3			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr20:47866085G>T	ENST00000396105.1	-	14	3722	c.3476C>A	c.(3475-3477)aCc>aAc	p.T1159N	ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000371752.1_Missense_Mutation_p.T1159N	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1159							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CCCGGTATAGGTAGTGAGGAT	0.517													7	80					5.18039e-06	5.63581e-06	1	1	0	T	47866085	G	T	47866085	3	4	106	1	0	0	0	0	1	0	0	0	18247	1261	44	4	2284	4	ZNFX1	20	47866085	Missense_Mutation	SNP	G	TCGA-EJ-A65F-01A-21D-A30X-08		47866085	15159435	81	5553											
SS18L1	26039	broad.mit.edu	37	chr20	60737905	60737905	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacagccacgcgggacccgcCtcgcagggcgtccccatgca	7	4	12	18	5	0	0	0	0	0	0	2	1	1	1	5	2	3	2	5	2	1	1			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr20:60737905C>A	ENST00000331758.3	+	5	500	c.474C>A	c.(472-474)gcC>gcA	p.A158A	SS18L1_ENST00000491916.1_3'UTR|SS18L1_ENST00000421564.1_Silent_p.A158A|SS18L1_ENST00000370848.4_Silent_p.A161A	NM_198935.1	NP_945173.1	O75177	CREST_HUMAN	synovial sarcoma translocation gene on chromosome 18-like 1	158	Methionine-rich intra-molecular domain (By similarity).				chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome kinetochore			SS18L1/SSX1(2)	ovary(2)|skin(1)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.92e-08)			CGGGACCCGCCTCGCAGGGCG	0.652			T	SSX1	synovial sarcoma								13	51					0.000219431	0.000236127	1	1	0	A	60737905	C	A	60737905	2	1	106	1	0	0	0	0	0	0	0	1	15232	668	24	4		4	SS18L1	20	60737905	Silent	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08	12871820	60737905	2287615	82	5554											
MYH9	4627	broad.mit.edu	37	chr22	36696287	36696287	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgccgggcgctctcctcCtcctccagctgctcctcaag	3	11	8	19	2	3	0	1	0	2	0	8	0	7	0	6	1	3	3	6	1	1	1			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr22:36696287C>T	ENST00000216181.5	-	23	3092	c.2862G>A	c.(2860-2862)gaG>gaA	p.E954E		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	954					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CGCTCTCCTCCTCCTCCAGCT	0.627			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated				4	44					0	0	1	0	0	T	36696287	C	T	36696287	2	4	106	1	0	0	0	0	0	0	0	1	10090	680	24	2		2	MYH9	22	36696287	Silent	SNP	C	TCGA-EJ-A65F-01A-21D-A30X-08		36696287	14608279	83	5555											
SEPT3	55964	broad.mit.edu	37	chr22	42377716	42377716	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcccaggcctaagccagcGgtgcccatgaagcccatgag	10	4	13	14	1	0	2	0	2	0	0	0	3	0	2	5	2	5	0	5	2	2	1			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chr22:42377716G>A	ENST00000396425.3	+	2	209	c.78G>A	c.(76-78)gcG>gcA	p.A26A	SEPT3_ENST00000291236.11_Intron|SEPT3_ENST00000406029.1_Intron|SEPT3_ENST00000396426.3_Silent_p.A26A|CTA-250D10.19_ENST00000424613.1_RNA|SEPT3_ENST00000328414.8_Silent_p.A26A	NM_019106.5	NP_061979.3	Q9UH03	SEPT3_HUMAN	septin 3	26					cell cycle|cytokinesis	cell junction|septin complex	GTP binding			breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						CTAAGCCAGCGGTGCCCATGA	0.617													10	18					0	0	1	0	0	A	42377716	G	A	42377716	2	1	106	1	0	0	0	0	0	0	0	1	14119	1103	39	1		1	SEPT3	22	42377716	Silent	SNP	G	TCGA-EJ-A65F-01A-21D-A30X-08	5681429	42377716	8926850	84	5556											
AWAT2	158835	broad.mit.edu	37	chrX	69261786	69261786	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctggcttggattctcaaTcttgggcattggtagaggct	6	14	12	9	0	2	1	1	0	2	1	4	2	3	2	1	5	0	4	1	5	2	5			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chrX:69261786T>C	ENST00000276101.3	-	7	879	c.874A>G	c.(874-876)Att>Gtt	p.I292V		NM_001002254.1	NP_001002254.1	Q6E213	AWAT2_HUMAN	acyl-CoA wax alcohol acyltransferase 2	292						endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity			endometrium(3)|large_intestine(3)|lung(2)|ovary(1)	9						GGATTCTCAATCTTGGGCATT	0.483													18	23					0	0	1	0	0	C	69261786	T	C	69261786	3	2	106	1	0	0	0	0	1	0	0	0	1233	1435	50	3	131	3	AWAT2	23	69261786	Missense_Mutation	SNP	T	TCGA-EJ-A65F-01A-21D-A30X-08		69261786	86008774	85	5557											
IL13RA1	3597	broad.mit.edu	37	chrX	117895121	117895121	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaaacctgatcctccacatAttaaaaacctctccttccac	13	11	2	15	0	1	2	0	2	1	0	5	2	4	2	6	0	2	0	6	0	5	3			TCGA-EJ-A65F-01A-21D-A30X-08	TCGA-EJ-A65F-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c17cad55-fb48-4813-8f26-083d3ece8ffa	17d98e3b-65f0-4395-8fdd-11ce4ccfc917	g.chrX:117895121A>G	ENST00000371666.3	+	6	764	c.697A>G	c.(697-699)Att>Gtt	p.I233V	IL13RA1_ENST00000371642.1_Missense_Mutation_p.I233V|IL13RA1_ENST00000481868.1_3'UTR	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1	233						interleukin-13 receptor complex	cytokine receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						TCCTCCACATATTAAAAACCT	0.368													57	14					0	0	1	0	0	G	117895121	A	G	117895121	3	3	106	1	0	0	0	0	1	0	0	0	7673	449	16	3	719	3	IL13RA1	23	117895121	Missense_Mutation	SNP	A	TCGA-EJ-A65F-01A-21D-A30X-08	48633335	117895121	37375439	86	5558											
MTF1	4520	broad.mit.edu	37	chr1	38300817	38300817	+	Missense_Mutation	SNP	A	A	T																															ttatcatgacctttcatgtgActtttgagactgtattgagt																										TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr1:38300817A>T	ENST00000373036.4	-	6	1064	c.924T>A	c.(922-924)agT>agA	p.S308R		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	308						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CTTTCATGTGACTTTTGAGAC	0.403													36	73					0	0	1	0	0	T	38300817	A	T	38300817	3	4	107	1	0	0	0	0	1	0	0	0	9970	272	10	5	1361	5	MTF1	1	38300817	Missense_Mutation	SNP	A	TCGA-EJ-A65G-01A-21D-A29Q-08		38300817	210949804	1	5559	29	2									
MTF1	4520	broad.mit.edu	37	chr1	38300818	38300818	+	Missense_Mutation	SNP	C	C	T																															tatcatgacctttcatgtgaCttttgagactgtattgagtg																										TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr1:38300818C>T	ENST00000373036.4	-	6	1063	c.923G>A	c.(922-924)aGt>aAt	p.S308N		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	308						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TTTCATGTGACTTTTGAGACT	0.403													37	74					0	0	1	0	0	T	38300818	C	T	38300818	3	4	107	1	0	0	0	0	1	0	0	0	9970	565	20	2	1362	2	MTF1	1	38300818	Missense_Mutation	SNP	C	TCGA-EJ-A65G-01A-21D-A29Q-08	1	38300818	210949803	2	5560	29	2									
LRRIQ3	127255	broad.mit.edu	37	chr1	74649343	74649343	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcttcatgactggttagcTcttctgtgactgttccatga	7	17	8	9	0	4	3	1	3	3	0	5	3	5	3	1	1	1	3	1	1	1	5			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr1:74649343T>C	ENST00000354431.4	-	2	217	c.26A>G	c.(25-27)gAg>gGg	p.E9G	LRRIQ3_ENST00000370911.3_Missense_Mutation_p.E9G|LRRIQ3_ENST00000370909.2_Missense_Mutation_p.E9G|LRRIQ3_ENST00000395089.1_Missense_Mutation_p.E9G	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	9										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						ACTGGTTAGCTCTTCTGTGAC	0.313													8	20					0	0	1	0	0	C	74649343	T	C	74649343	3	2	107	1	0	0	0	0	1	0	0	0	9075	1551	54	3	1876	3	LRRIQ3	1	74649343	Missense_Mutation	SNP	T	TCGA-EJ-A65G-01A-21D-A29Q-08	36348525	74649343	174601278	3	5561											
BARHL2	343472	broad.mit.edu	37	chr1	91182528	91182528	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcgcgtctgctaccagatgCggctccgggggctccatggt	4	9	15	13	4	1	1	0	0	1	1	4	1	3	1	3	4	3	3	3	4	1	1	rs141603891		TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr1:91182528C>A	ENST00000370445.4	-	1	266	c.225G>T	c.(223-225)ccG>ccT	p.P75P		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	75						nucleus	sequence-specific DNA binding			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		CTACCAGATGCGGCTCCGGGG	0.632													27	77					1.66031e-10	1.69892e-10	1	1	0	A	91182528	C	A	91182528	2	1	107	1	0	0	0	0	0	0	0	1	1312	755	27	4		4	BARHL2	1	91182528	Silent	SNP	C	TCGA-EJ-A65G-01A-21D-A29Q-08	16533185	91182528	158068093	4	5562											
LCE1F	353137	broad.mit.edu	37	chr1	152748983	152748983	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtctcttcctgctgcagcGtcagctccggaggctgctgt	3	12	12	14	2	2	0	1	0	1	0	5	1	4	1	2	2	5	5	2	2	0	1			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr1:152748983G>A	ENST00000334371.2	+	1	136	c.136G>A	c.(136-138)Gtc>Atc	p.V46I		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	46					keratinization					kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGCTGCAGCGTCAGCTCCGG	0.672													6	123					0	0	1	0	0	A	152748983	G	A	152748983	3	1	107	1	0	0	0	0	1	0	0	0	8703	1145	40	1	138	1	LCE1F	1	152748983	Missense_Mutation	SNP	G	TCGA-EJ-A65G-01A-21D-A29Q-08	61566455	152748983	96501638	5	5563											
ITPKB	3707	broad.mit.edu	37	chr1	226924202	226924202	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cggctcagtgagggcaagatCctgtggacggtgtggcccag	7	7	17	10	2	1	2	1	1	0	1	2	3	2	3	2	5	0	2	2	5	1	0			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr1:226924202C>T	ENST00000429204.1	-	2	1285	c.958G>A	c.(958-960)Gat>Aat	p.D320N	ITPKB_ENST00000272117.3_Missense_Mutation_p.D320N|ITPKB_ENST00000366784.1_Missense_Mutation_p.D320N	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	320							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				AGGGCAAGATCCTGTGGACGG	0.627													5	89					0	0	1	0	0	T	226924202	C	T	226924202	3	4	107	1	0	0	0	0	1	0	0	0	7962	855	30	2	1910	2	ITPKB	1	226924202	Missense_Mutation	SNP	C	TCGA-EJ-A65G-01A-21D-A29Q-08	74175219	226924202	22326419	6	5564											
PRRT3	285368	broad.mit.edu	37	chr3	9989295	9989295	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccgtaagggtcggtaagcAtgtaggcggatcgcagcgcc	9	6	16	10	5	0	0	0	0	0	0	2	1	0	1	2	4	3	5	2	4	3	3			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr3:9989295A>G	ENST00000412055.1	-	4	1691	c.1562T>C	c.(1561-1563)aTg>aCg	p.M521T	PRRT3-AS1_ENST00000431558.1_RNA	NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3	521						integral to membrane				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						GTCGGTAAGCATGTAGGCGGA	0.716													5	20					0	0	1	0	0	G	9989295	A	G	9989295	3	3	107	1	0	0	0	0	1	0	0	0	12661	217	8	3	1387	3	PRRT3	3	9989295	Missense_Mutation	SNP	A	TCGA-EJ-A65G-01A-21D-A29Q-08		9989295	188033135	7	5565											
CCDC51	79714	broad.mit.edu	37	chr3	48474343	48474343	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agactcacaggccccttctgCgcctccaggagtaaagcctt	9	8	9	15	1	2	1	1	0	1	1	3	2	3	2	5	2	2	1	5	2	2	3			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr3:48474343C>T	ENST00000395694.2	-	4	796	c.711G>A	c.(709-711)gcG>gcA	p.A237A	CCDC51_ENST00000412398.2_Silent_p.A128A|CCDC51_ENST00000442740.1_Silent_p.A128A|CCDC51_ENST00000447018.1_Silent_p.A128A|CCDC51_ENST00000395696.1_Silent_p.A237A	NM_001256964.1	NP_001243893.1	Q96ER9	CCD51_HUMAN	coiled-coil domain containing 51	237						integral to membrane				endometrium(4)|kidney(4)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GCCCCTTCTGCGCCTCCAGGA	0.597													4	157					0	0	1	0	0	T	48474343	C	T	48474343	2	4	107	1	0	0	0	0	0	0	0	1	2841	755	27	1		1	CCDC51	3	48474343	Silent	SNP	C	TCGA-EJ-A65G-01A-21D-A29Q-08	38485048	48474343	149548087	8	5566											
POLQ	10721	broad.mit.edu	37	chr3	121208388	121208388	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatgctccacaaaattatcAttagttagtgttatgttcca	13	16	5	7	0	1	0	1	0	0	0	3	0	3	0	2	0	1	4	2	0	7	6			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr3:121208388A>G	ENST00000264233.5	-	16	3518	c.3390T>C	c.(3388-3390)aaT>aaC	p.N1130N		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1130					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CAAAATTATCATTAGTTAGTG	0.348								DNA polymerases (catalytic subunits)					26	67					0	0	1	0	0	G	121208388	A	G	121208388	2	3	107	1	0	0	0	0	0	0	0	1	12256	214	8	3		3	POLQ	3	121208388	Silent	SNP	A	TCGA-EJ-A65G-01A-21D-A29Q-08	72734045	121208388	76814042	9	5567											
PCDHA1	0	broad.mit.edu	37	chr5	140167326	140167326	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgcgcgggacgcggacgCgcaggagaacgcgctggtgt	6	5	19	11	8	1	1	0	0	1	1	1	4	1	3	0	4	2	2	0	4	1	0			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr5:140167326C>T	ENST00000504120.2	+	1	1451	c.1451C>T	c.(1450-1452)gCg>gTg	p.A484V	PCDHA1_ENST00000394633.3_Missense_Mutation_p.A484V|PCDHA1_ENST00000378133.3_Missense_Mutation_p.A484V	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACGCGGACGCGCAGGAGAAC	0.662													6	172					0	0	1	0	0	T	140167326	C	T	140167326	3	4	107	1	0	0	0	0	1	0	0	0	11566	768	27	1	1453	1	PCDHA1	5	140167326	Missense_Mutation	SNP	C	TCGA-EJ-A65G-01A-21D-A29Q-08		140167326	40747934	10	5568											
ZBTB22	0	broad.mit.edu	37	chr6	33284252	33284252	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctgaggcccggccttctcGgagtagttcagtgcacttgt	6	11	13	11	2	2	1	1	1	1	0	3	2	2	2	2	3	2	4	2	3	1	4			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr6:33284252G>A	ENST00000431845.2	-	2	593	c.442C>T	c.(442-444)Cga>Tga	p.R148*	ZBTB22_ENST00000418724.1_Nonsense_Mutation_p.R148*	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	148					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						CGGCCTTCTCGGAGTAGTTCA	0.592													4	190					0	0	1	0	0	A	33284252	G	A	33284252	4	1	107	1	0	0	0	0	0	1	0	0	17589	1124	39	1	1466	1	ZBTB22	6	33284252	Nonsense_Mutation	SNP	G	TCGA-EJ-A65G-01A-21D-A29Q-08		33284252	137830815	11	5569											
BAI3	577	broad.mit.edu	37	chr6	69653743	69653743	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acacggagtatgggaggaatGgtcaccatggagtttatgtt	11	11	14	5	1	1	0	1	0	0	0	1	4	1	4	1	5	0	3	1	5	3	4			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr6:69653743G>T	ENST00000370598.1	+	6	1873	c.1052G>T	c.(1051-1053)tGg>tTg	p.W351L		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	351	TSP type-1 2.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TGGGAGGAATGGTCACCATGG	0.403													37	94					1.67305e-13	1.79547e-13	1	1	0	T	69653743	G	T	69653743	3	4	107	1	0	0	0	0	1	0	0	0	1298	1357	47	4	1066	4	BAI3	6	69653743	Missense_Mutation	SNP	G	TCGA-EJ-A65G-01A-21D-A29Q-08	36369491	69653743	101461324	12	5570											
HIVEP2	3097	broad.mit.edu	37	chr6	143092407	143092407	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtccatgtgcatgatctGtggctgggccaggtgcagtg	6	11	15	9	0	1	1	0	1	1	0	2	1	2	1	2	3	2	3	2	3	0	0			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr6:143092407G>A	ENST00000367603.2	-	5	4211	c.3469C>T	c.(3469-3471)Cag>Tag	p.Q1157*	HIVEP2_ENST00000012134.2_Nonsense_Mutation_p.Q1157*|HIVEP2_ENST00000367604.1_Nonsense_Mutation_p.Q1157*	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TGCATGATCTGTGGCTGGGCC	0.557													5	137					0	0	1	0	0	A	143092407	G	A	143092407	4	1	107	1	0	0	0	0	0	1	0	0	7228	1386	48	2	3895	2	HIVEP2	6	143092407	Nonsense_Mutation	SNP	G	TCGA-EJ-A65G-01A-21D-A29Q-08	73438664	143092407	28022660	13	5571											
OXR1	55074	broad.mit.edu	37	chr8	107752617	107752617	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aattggctatccatggactcTtgtttatggtactggaaaac	11	14	9	7	0	1	0	0	0	1	0	2	2	2	2	1	4	2	3	1	4	6	6			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr8:107752617T>G	ENST00000445937.1	+	13	2390	c.2129T>G	c.(2128-2130)cTt>cGt	p.L710R	OXR1_ENST00000449762.2_Missense_Mutation_p.L80R|OXR1_ENST00000312046.6_Missense_Mutation_p.L703R|OXR1_ENST00000297447.6_Missense_Mutation_p.L107R|OXR1_ENST00000531443.1_Missense_Mutation_p.L710R|OXR1_ENST00000517566.2_Missense_Mutation_p.L737R|OXR1_ENST00000452423.2_Missense_Mutation_p.L158R|OXR1_ENST00000442977.2_Missense_Mutation_p.L738R|OXR1_ENST00000521592.1_5'UTR	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	oxidation resistance 1	738					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			CCATGGACTCTTGTTTATGGT	0.378													5	98					0	0	1	0	0	G	107752617	T	G	107752617	3	3	107	1	0	0	0	0	1	0	0	0	11381	1609	56	5	2378	5	OXR1	8	107752617	Missense_Mutation	SNP	T	TCGA-EJ-A65G-01A-21D-A29Q-08		107752617	38611405	14	5572											
AQP7	364	broad.mit.edu	37	chr9	33385585	33385585	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cccctcacatcaccccccacCcctcaacacacaggggaccc	10	3	4	24	0	3	0	3	0	0	0	3	1	3	1	8	2	1	0	8	2	1	0			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr9:33385585C>A	ENST00000541274.1	-	5	859	c.410G>T	c.(409-411)gGg>gTg	p.G137V	AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000377425.4_Intron			O14520	AQP7_HUMAN	aquaporin 7	0					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CACCCCCCACCCCTCAACACA	0.602													4	82					0.00024832	0.00024832	1	1	0	A	33385585	C	A	33385585	3	1	107	1	0	0	0	0	1	0	0	0	828	638	22	4		4	AQP7	9	33385585	Missense_Mutation	SNP	C	TCGA-EJ-A65G-01A-21D-A29Q-08		33385585	107827846	15	5573											
KIAA1045	23349	broad.mit.edu	37	chr9	34978067	34978067	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcctctacatcctggctgctCgccccaacagcgcagccatt	7	9	7	18	2	1	0	0	0	1	0	4	0	3	0	5	1	5	3	5	1	2	2			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr9:34978067C>T	ENST00000242315.3	+	8	1244	c.1162C>T	c.(1162-1164)Cgc>Tgc	p.R388C	KIAA1045_ENST00000544237.1_Missense_Mutation_p.R388C|KIAA1045_ENST00000476115.2_3'UTR	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	388							calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			CCTGGCTGCTCGCCCCAACAG	0.542													33	124					0	0	1	0	0	T	34978067	C	T	34978067	3	4	107	1	0	0	0	0	1	0	0	0	8249	884	31	1	1188	1	KIAA1045	9	34978067	Missense_Mutation	SNP	C	TCGA-EJ-A65G-01A-21D-A29Q-08	1592482	34978067	106235364	16	5574											
DFNB31	25861	broad.mit.edu	37	chr9	117168901	117168901	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcctcttggagctggggttgGcaggggagacggaggcatag	7	7	20	7	1	1	1	0	0	1	1	1	4	1	3	1	8	1	4	1	8	1	3			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr9:117168901G>C	ENST00000362057.3	-	9	2138	c.1970C>G	c.(1969-1971)gCc>gGc	p.A657G	DFNB31_ENST00000374059.3_Missense_Mutation_p.A306G|DFNB31_ENST00000265134.6_Missense_Mutation_p.A274G	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219.3	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	657	Pro-rich.				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCTGGGGTTGGCAGGGGAGAC	0.682													6	151					0	0	1	0	0	C	117168901	G	C	117168901	3	2	107	1	0	0	0	0	1	0	0	0	4483	1203	42	4	769	4	DFNB31	9	117168901	Missense_Mutation	SNP	G	TCGA-EJ-A65G-01A-21D-A29Q-08	82190834	117168901	24044530	17	5575											
PANK1	53354	broad.mit.edu	37	chr10	91359177	91359177	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aatagtaacattctggcttgCcgttgaagccaacagagtcg	12	10	10	9	2	1	2	0	1	1	1	2	2	1	2	2	1	4	3	2	1	5	5			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr10:91359177C>T	ENST00000307534.4	-	3	1297	c.1142G>A	c.(1141-1143)gGc>gAc	p.G381D	PANK1_ENST00000342512.3_Missense_Mutation_p.G156D|PANK1_ENST00000322191.6_Missense_Mutation_p.G156D|PANK1_ENST00000371774.2_Missense_Mutation_p.G183D	NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN	pantothenate kinase 1	381					coenzyme A biosynthetic process|pantothenate metabolic process	cytosol|nucleus	ATP binding|pantothenate kinase activity			cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11					Bezafibrate(DB01393)	TTCTGGCTTGCCGTTGAAGCC	0.428													4	175					0	0	1	0	0	T	91359177	C	T	91359177	3	4	107	1	0	0	0	0	1	0	0	0	11463	739	26	2	674	2	PANK1	10	91359177	Missense_Mutation	SNP	C	TCGA-EJ-A65G-01A-21D-A29Q-08		91359177	44175570	18	5576											
CUTC	51076	broad.mit.edu	37	chr10	101503043	101503043	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcgtcttgccaagctttaTggtgctgatggtttggtttt	5	19	11	6	1	1	1	0	1	1	0	2	1	1	1	1	3	3	4	1	3	2	7			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr10:101503043T>A	ENST00000370476.5	+	4	456	c.327T>A	c.(325-327)taT>taA	p.Y109*	CUTC_ENST00000493385.1_3'UTR	NM_015960.2	NP_057044.2	Q9NTM9	CUTC_HUMAN	cutC copper transporter	109					copper ion homeostasis|copper ion transport|protein tetramerization	cytoplasm|nucleus	copper ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Colorectal(252;0.234)		Epithelial(162;3e-10)|all cancers(201;2.37e-08)		CCAAGCTTTATGGTGCTGATG	0.428													10	147					0	0	1	0	0	A	101503043	T	A	101503043	4	1	107	1	0	0	0	0	0	1	0	0	4086	1471	51	5	341	5	CUTC	10	101503043	Nonsense_Mutation	SNP	T	TCGA-EJ-A65G-01A-21D-A29Q-08	10143866	101503043	34031704	19	5577											
RRAS2	22800	broad.mit.edu	37	chr11	14316390	14316390	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatggctccaaactcttctTgtcctgctgtatccaaaact	9	14	5	13	0	3	0	1	0	2	0	6	0	6	0	3	1	3	3	3	1	4	3	rs113954997		TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr11:14316390T>A	ENST00000545643.1	-	3	546	c.233A>T	c.(232-234)cAa>cTa	p.Q78L	RRAS2_ENST00000532814.1_5'UTR|RRAS2_ENST00000537760.1_Missense_Mutation_p.Q37L|RRAS2_ENST00000414023.2_5'UTR|RRAS2_ENST00000534746.1_5'UTR|RRAS2_ENST00000526063.1_5'UTR|RRAS2_ENST00000529237.1_5'UTR|RRAS2_ENST00000256196.4_Missense_Mutation_p.Q72L	NM_012250.5	NP_036382.2	P62070	RRAS2_HUMAN	related RAS viral (r-ras) oncogene homolog 2	72						endoplasmic reticulum|plasma membrane	GTP binding|GTPase activity|protein binding	p.Q72L(2)		breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	12				Epithelial(150;0.203)		AAACTCTTCTTGTCCTGCTGT	0.393													11	114					0	0	1	0	0	A	14316390	T	A	14316390	3	1	107	1	0	0	0	0	1	0	0	0	13729	1812	63	5	415	5	RRAS2	11	14316390	Missense_Mutation	SNP	T	TCGA-EJ-A65G-01A-21D-A29Q-08		14316390	120690126	20	5578											
SLC5A12	159963	broad.mit.edu	37	chr11	26702711	26702711	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggtgcagggtaaatgaaggCcccaatggccacccaaaatg	13	6	12	10	0	0	1	0	1	0	0	0	1	0	1	4	4	1	2	4	4	6	1			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr11:26702711C>T	ENST00000396005.3	-	12	1675	c.1366G>A	c.(1366-1368)Gcc>Acc	p.A456T		NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	456					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						TAAATGAAGGCCCCAATGGCC	0.468													11	20					0	0	1	0	0	T	26702711	C	T	26702711	3	4	107	1	0	0	0	0	1	0	0	0	14719	739	26	2	506	2	SLC5A12	11	26702711	Missense_Mutation	SNP	C	TCGA-EJ-A65G-01A-21D-A29Q-08	12386321	26702711	108303805	21	5579											
OR8K3	219473	broad.mit.edu	37	chr11	56085932	56085932	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcatgattgtcctcaccaaGttggactccaggttgcaaac	10	10	10	11	0	1	1	1	1	0	0	3	2	3	2	3	3	2	4	3	3	2	3			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr11:56085932G>T	ENST00000312711.1	+	1	150	c.150G>T	c.(148-150)aaG>aaT	p.K50N		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TCCTCACCAAGTTGGACTCCA	0.433													36	140					1.08052e-11	1.13197e-11	1	1	0	T	56085932	G	T	56085932	3	4	107	1	0	0	0	0	1	0	0	0	11291	1020	36	4	152	4	OR8K3	11	56085932	Missense_Mutation	SNP	G	TCGA-EJ-A65G-01A-21D-A29Q-08	29383221	56085932	78920584	22	5580											
OR5M10	390167	broad.mit.edu	37	chr11	56344440	56344440	+	Frame_Shift_Del	DEL	C	C	-																															cgtacatgcagaagagggttCcataaaacaaagtgactatt																										TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr11:56344440delC	ENST00000526812.2	-	1	823	c.758delG	c.(757-759)gafs	p.G253fs		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						GAAGAGGGTTCCATAAAACAA	0.438													48	184	---	---	---	---						-	56344440	C	-	56344440	7	5	107	1	0	1	0	1	0	0	0	0	11220	855	30	0	193	0	OR5M10	11	56344440	Frame_Shift_Del	DEL	C	TCGA-EJ-A65G-01A-21D-A29Q-08	258508	56344440	78662076	23	5581											
PRB4	5545	broad.mit.edu	37	chr12	11461642	11461642	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctttcctggatgaggtgggGgaccttgggactggttgcct	4	12	17	8	0	0	1	0	1	0	0	1	4	1	4	3	6	1	2	3	6	0	3			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr12:11461642G>A	ENST00000279575.1	-	3	308	c.275C>T	c.(274-276)cCc>cTc	p.P92L	PRB4_ENST00000535904.1_Missense_Mutation_p.P92L|PRB4_ENST00000445719.2_Missense_Mutation_p.P92L	NM_001261399.1|NM_002723.4	NP_001248328.1|NP_002714.2	P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	92	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.			Missing (in Ref. 7; CAA30542).		extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						ATGAGGTGGGGGACCTTGGGA	0.612										HNSCC(22;0.051)			7	662					0	0	1	0	0	A	11461642	G	A	11461642	3	1	107	1	0	0	0	0	1	0	0	0	12497	1232	43	2	472	2	PRB4	12	11461642	Missense_Mutation	SNP	G	TCGA-EJ-A65G-01A-21D-A29Q-08		11461642	122390253	24	5582											
KCTD10	83892	broad.mit.edu	37	chr12	109894046	109894046	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ataacatcctttatgaacagGacccttccgttaaagcgcag	13	10	7	11	2	0	1	0	1	0	0	2	2	2	2	3	1	3	2	3	1	5	5			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr12:109894046G>C	ENST00000228495.6	-	6	881	c.600C>G	c.(598-600)gtC>gtG	p.V200V	KCTD10_ENST00000538161.1_5'UTR|KCTD10_ENST00000424763.2_Silent_p.V19V|KCTD10_ENST00000540411.1_Silent_p.V174V|KCTD10_ENST00000540089.1_Silent_p.V19V	NM_031954.3	NP_114160.1	Q9H3F6	BACD3_HUMAN	potassium channel tetramerization domain containing 10	200					proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	10						TTATGAACAGGACCCTTCCGT	0.438													12	86					0	0	1	0	0	C	109894046	G	C	109894046	2	2	107	1	0	0	0	0	0	0	0	1	8141	1161	41	4		4	KCTD10	12	109894046	Silent	SNP	G	TCGA-EJ-A65G-01A-21D-A29Q-08	98432404	109894046	23957849	25	5583											
NOS1	4842	broad.mit.edu	37	chr12	117768561	117768561	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaggtggtctccaggtgcGtggtgaaaccttcagggccc	8	9	14	10	1	2	1	1	1	1	0	3	1	2	1	3	5	2	0	3	5	3	2	rs76839820		TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr12:117768561G>A	ENST00000317775.6	-	2	999	c.314C>T	c.(313-315)aCg>aTg	p.T105M	NOS1_ENST00000344089.3_Missense_Mutation_p.T105M|NOS1_ENST00000338101.4_Missense_Mutation_p.T105M	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	105	Interaction with NOSIP (By similarity).				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CTCCAGGTGCGTGGTGAAACC	0.612													5	100					0	0	1	0	0	A	117768561	G	A	117768561	3	1	107	1	0	0	0	0	1	0	0	0	10588	1145	40	1	4102	1	NOS1	12	117768561	Missense_Mutation	SNP	G	TCGA-EJ-A65G-01A-21D-A29Q-08	7874515	117768561	16083334	26	5584											
PAN3	255967	broad.mit.edu	37	chr13	28794430	28794430	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaacctccaggctgagtaaCgtgtcccagtcaaatatgtc	11	10	8	12	1	2	1	2	1	0	0	5	1	4	1	3	1	2	2	3	1	4	2			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr13:28794430C>T	ENST00000399613.1	+	5	378	c.315C>T	c.(313-315)aaC>aaT	p.N105N	PAN3_ENST00000380958.3_Silent_p.N305N			Q58A45	PAN3_HUMAN	PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	305	Interaction with polyadenylate-binding protein.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		GGCTGAGTAACGTGTCCCAGT	0.423													49	176					0	0	1	0	0	T	28794430	C	T	28794430	2	4	107	1	0	0	0	0	0	0	0	1	11462	535	19	1		1	PAN3	13	28794430	Silent	SNP	C	TCGA-EJ-A65G-01A-21D-A29Q-08		28794430	86375448	27	5585											
ZSCAN10	84891	broad.mit.edu	37	chr16	3140420	3140420	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caactccggattgggctcggGgacgccctcagccactttga	7	8	12	14	3	1	1	1	1	0	0	3	3	2	3	3	4	2	1	3	4	1	2			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chr16:3140420G>A	ENST00000252463.2	-	5	937	c.850C>T	c.(850-852)Ccc>Tcc	p.P284S	ZSCAN10_ENST00000538082.2_Missense_Mutation_p.P202S|ZSCAN10_ENST00000575108.1_5'UTR	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	284					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						TTGGGCTCGGGGACGCCCTCA	0.662													6	237					0	0	1	0	0	A	3140420	G	A	3140420	3	1	107	1	0	0	0	0	1	0	0	0	18269	1232	43	2	1331	2	ZSCAN10	16	3140420	Missense_Mutation	SNP	G	TCGA-EJ-A65G-01A-21D-A29Q-08		3140420	87214333	28	5586											
DCAF8L1	139425	broad.mit.edu	37	chrX	27997690	27997690	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgatcttggccctcctcctCggatgtatctgaggtgctgg	4	13	12	12	2	2	1	0	1	2	0	6	3	4	2	3	4	1	2	3	4	1	2			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chrX:27997690C>T	ENST00000441525.1	-	1	1876	c.1762G>A	c.(1762-1764)Gag>Aag	p.E588K		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	588								p.E588K(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CCCTCCTCCTCGGATGTATCT	0.502													4	48					0	0	1	0	0	T	27997690	C	T	27997690	3	4	107	1	0	0	0	0	1	0	0	0	4301	893	31	1	44	1	DCAF8L1	23	27997690	Missense_Mutation	SNP	C	TCGA-EJ-A65G-01A-21D-A29Q-08		27997690	127272870	29	5587											
KDM6A	7403	broad.mit.edu	37	chrX	44923045	44923048	+	Frame_Shift_Del	DEL	CTAT	CTAT	-																															aggagccgtggaaaaaccaaCtatctaactccactcaggta																										TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chrX:44923045_44923048delCTAT	ENST00000377967.4	+	16	1947_1950	c.1906_1909delCTAT	c.(1906-1911)ctfs	p.LS636fs	KDM6A_ENST00000536777.1_Frame_Shift_Del_p.LS591fs|KDM6A_ENST00000382899.4_Frame_Shift_Del_p.LS643fs|KDM6A_ENST00000543216.1_Frame_Shift_Del_p.LS557fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	636					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.0(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GAAAAACCAACTATCTAACTCCAC	0.446			"D, N, F, S"		"renal, oesophageal SCC, MM"								6	4	---	---	---	---						-	44923048	CTAT	-	44923045	7	5	107	1	0	1	0	1	0	0	0	0	8180	564	20	0	1968	0	KDM6A	23	44923045	Frame_Shift_Del	DEL	CTAT	TCGA-EJ-A65G-01A-21D-A29Q-08	16925355	44923045	110347515	30	5588											
GPC3	2719	broad.mit.edu	37	chrX	132887602	132887602	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtacgttctccatgtcataGattctgtacatgccattcac	10	14	6	11	1	4	1	2	0	2	1	5	1	4	1	2	0	3	3	2	0	3	6			TCGA-EJ-A65G-01A-21D-A29Q-08	TCGA-EJ-A65G-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bdb0244b-1099-46e0-857e-35d6ae983c53	23c04493-58ff-4af4-a2df-9dbdd52d4e48	g.chrX:132887602G>C	ENST00000370818.3	-	3	1384	c.939C>G	c.(937-939)atC>atG	p.I313M	GPC3_ENST00000394299.2_Missense_Mutation_p.I313M|GPC3_ENST00000543339.1_Missense_Mutation_p.I259M	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	313						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					CCATGTCATAGATTCTGTACA	0.443			"T, D, Mis, N, F, S"			Wilms tumour			Simpson-Golabi-Behmel syndrome				4	97					0	0	1	0	0	C	132887602	G	C	132887602	3	2	107	1	0	0	0	0	1	0	0	0	6639	932	33	4	900	4	GPC3	23	132887602	Missense_Mutation	SNP	G	TCGA-EJ-A65G-01A-21D-A29Q-08	87964557	132887602	22382958	31	5589											
TNNI3K	51086	broad.mit.edu	37	chr1	74905217	74905217	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgttcacgcagtgcactcGgtacaccatcaaagcagatg	11	8	11	11	2	2	1	2	0	0	1	3	1	2	1	1	2	3	5	1	2	2	2			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr1:74905217G>T	ENST00000370891.2	+	22	2241	c.2225G>T	c.(2224-2226)cGg>cTg	p.R742L	FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.R742L|TNNI3K_ENST00000326637.3_Missense_Mutation_p.R641L|FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.R742L	NM_001112808.2	NP_001106279.1			TNNI3 interacting kinase											cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						CAGTGCACTCGGTACACCATC	0.488													3	57					0.115264	0.115264	1	1	0	T	74905217	G	T	74905217	3	4	108	1	0	0	0	0	1	0	0	0	16389	1116	39	4	2355	4	TNNI3K	1	74905217	Missense_Mutation	SNP	G	TCGA-EJ-A65J-01A-11D-A30X-08		74905217	174345404	1	5590											
KCNA3	3738	broad.mit.edu	37	chr1	111216224	111216224	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccccaataaagaggaagAagatgagcaatcccagctcc	16	5	9	11	0	0	5	0	2	0	3	2	6	2	6	4	1	2	2	4	1	6	1			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr1:111216224A>C	ENST00000369769.2	-	1	1431	c.1208T>G	c.(1207-1209)tTc>tGc	p.F403C		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	403						voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.F403S(1)		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)		AAAGAGGAAGAAGATGAGCAA	0.582													23	35					0	0	1	0	0	C	111216224	A	C	111216224	3	2	108	1	0	0	0	0	1	0	0	0	8048	246	9	5	523	5	KCNA3	1	111216224	Missense_Mutation	SNP	A	TCGA-EJ-A65J-01A-11D-A30X-08	36311007	111216224	138034397	2	5591											
HIPK1	204851	broad.mit.edu	37	chr1	114483922	114483922	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccacagccttgatgaagcTcaagagtcttggtctgatcc	9	10	11	11	0	3	4	1	3	2	1	4	4	4	4	3	2	2	1	3	2	2	2			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr1:114483922T>G	ENST00000369558.1	+	2	1149	c.917T>G	c.(916-918)cTc>cGc	p.L306R	HIPK1_ENST00000369555.2_Missense_Mutation_p.L306R|HIPK1_ENST00000369561.4_Missense_Mutation_p.L306R|HIPK1_ENST00000369554.2_Missense_Mutation_p.L306R|HIPK1_ENST00000426820.2_Missense_Mutation_p.L306R|HIPK1_ENST00000369559.4_Missense_Mutation_p.L306R			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	306	Protein kinase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGATGAAGCTCAAGAGTCTT	0.463													10	66					0	0	1	0	0	G	114483922	T	G	114483922	3	3	108	1	0	0	0	0	1	0	0	0	7157	1551	54	5	919	5	HIPK1	1	114483922	Missense_Mutation	SNP	T	TCGA-EJ-A65J-01A-11D-A30X-08	3267698	114483922	134766699	3	5592			1	15		2	2	15	N	T_C	2.0803e-05
HIPK1	204851	broad.mit.edu	37	chr1	114483936	114483936	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaagctcaagagtcttggtCtgatccacgctgaccttaag	10	11	10	10	1	3	4	1	3	2	1	4	4	4	4	2	1	1	2	2	1	3	2			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr1:114483936C>G	ENST00000369558.1	+	2	1163	c.931C>G	c.(931-933)Ctg>Gtg	p.L311V	HIPK1_ENST00000369555.2_Missense_Mutation_p.L311V|HIPK1_ENST00000369561.4_Missense_Mutation_p.L311V|HIPK1_ENST00000369554.2_Missense_Mutation_p.L311V|HIPK1_ENST00000426820.2_Missense_Mutation_p.L311V|HIPK1_ENST00000369559.4_Missense_Mutation_p.L311V			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	311	Protein kinase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.L311L(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGTCTTGGTCTGATCCACGC	0.478													11	69					0	0	1	0	0	G	114483936	C	G	114483936	3	3	108	1	0	0	0	0	1	0	0	0	7157	912	32	4	933	4	HIPK1	1	114483936	Missense_Mutation	SNP	C	TCGA-EJ-A65J-01A-11D-A30X-08	14	114483936	134766685	4	5593			1	15		2	2	15	N	T_C	2.0803e-05
KLHDC9	126823	broad.mit.edu	37	chr1	161068706	161068706	+	Frame_Shift_Del	DEL	C	C	-																															acagggacccctggtgactgCccccccgccggcctcagtag																										TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr1:161068706delC	ENST00000392192.2	+	1	523	c.381delC	c.(379-381)tgfs	p.C127fs	KLHDC9_ENST00000368011.4_Frame_Shift_Del_p.C127fs|KLHDC9_ENST00000490724.2_3'UTR	NM_001007255.2	NP_001007256.1	Q8NEP7	KLDC9_HUMAN	kelch domain containing 9	127										lung(5)|upper_aerodigestive_tract(1)	6	all_cancers(52;1.28e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CTGGTGACTGCCCCCCCGCCG	0.687													2	4	---	---	---	---						-	161068706	C	-	161068706	7	5	108	1	0	1	0	1	0	0	0	0	8407	747	26	0	383	0	KLHDC9	1	161068706	Frame_Shift_Del	DEL	C	TCGA-EJ-A65J-01A-11D-A30X-08	46584770	161068706	88181915	5	5594											
RGS21	431704	broad.mit.edu	37	chr1	192335057	192335057	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttattttccacagattaacAttgacttcggtaccagagac	12	13	6	10	1	0	3	0	1	0	2	2	4	1	3	2	1	2	1	2	1	3	7			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr1:192335057A>C	ENST00000417209.2	+	5	436	c.262A>C	c.(262-264)Att>Ctt	p.I88L		NM_001039152.3	NP_001034241.1	Q2M5E4	RGS21_HUMAN	regulator of G-protein signaling 21	88	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						ACAGATTAACATTGACTTCGG	0.303													29	45					0	0	1	0	0	C	192335057	A	C	192335057	3	2	108	1	0	0	0	0	1	0	0	0	13354	217	8	5	276	5	RGS21	1	192335057	Missense_Mutation	SNP	A	TCGA-EJ-A65J-01A-11D-A30X-08	31266351	192335057	56915564	6	5595											
RBKS	64080	broad.mit.edu	37	chr2	28004505	28004506	+	Frame_Shift_Ins	INS	-	-	T																															aacagagtaagcggaaggtcINSttttttgtaagggtaagatg																										TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr2:28004505_28004506insT	ENST00000302188.3	-	8	1697_1698	c.945_946insA	c.(943-948)aaacctfs	p.P316fs	AC110084.1_ENST00000601759.1_Intron	NM_022128.1	NP_071411.1	Q9H477	RBSK_HUMAN	ribokinase	316					D-ribose metabolic process		ATP binding|ribokinase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(172;0.155)					AGCGGAAGGTCTTTTTTGTAAG	0.421													38	67	---	---	---	---						T	28004506	-	T	28004505	7	5	108	1	0	1	1	0	0	0	0	0	13160	913	32	0	26	0	RBKS	2	28004505	Frame_Shift_Ins	INS	-	TCGA-EJ-A65J-01A-11D-A30X-08		28004505	215194868	7	5596											
SIX2	10736	broad.mit.edu	37	chr2	45233391	45233391	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtggtgttgcagtgggtccGctccacctccgcctggcacc	3	9	14	15	2	0	0	0	0	0	0	3	0	3	0	6	4	1	4	6	4	0	1			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr2:45233391G>A	ENST00000303077.6	-	2	1113	c.794C>T	c.(793-795)gCg>gTg	p.A265V		NM_016932.4	NP_058628.3	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	265						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CAGTGGGTCCGCTCCACCTCC	0.687													12	81					0	0	1	0	0	A	45233391	G	A	45233391	3	1	108	1	0	0	0	0	1	0	0	0	14402	1087	38	1	85	1	SIX2	2	45233391	Missense_Mutation	SNP	G	TCGA-EJ-A65J-01A-11D-A30X-08	17228886	45233391	197965982	8	5597											
FBLN2	2199	broad.mit.edu	37	chr3	13659706	13659706	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagctgtgccagcacctttgCatcaatactgtgggttctta	8	13	10	10	0	2	0	1	0	1	0	2	1	2	0	2	1	5	4	2	1	3	4			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr3:13659706C>T	ENST00000404922.3	+	6	1979	c.1860C>T	c.(1858-1860)tgC>tgT	p.C620C	FBLN2_ENST00000535798.1_Silent_p.C646C|FBLN2_ENST00000295760.7_Silent_p.C620C|FBLN2_ENST00000492059.1_Silent_p.C620C	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	620	EGF-like 1; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			AGCACCTTTGCATCAATACTG	0.627													39	54					0	0	1	0	0	T	13659706	C	T	13659706	2	4	108	1	0	0	0	0	0	0	0	1	5732	718	25	2		2	FBLN2	3	13659706	Silent	SNP	C	TCGA-EJ-A65J-01A-11D-A30X-08		13659706	184362724	9	5598											
ITGA9	3680	broad.mit.edu	37	chr3	37512505	37512505	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcttgctgcagggtccttGtgggcgcaccaaaggcagat	7	10	13	11	1	1	1	0	0	1	1	3	1	2	1	2	3	2	4	2	3	1	2			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr3:37512505G>A	ENST00000264741.5	+	2	449	c.193G>A	c.(193-195)Gtg>Atg	p.V65M	ITGA9_ENST00000422441.1_Missense_Mutation_p.V65M	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	65					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		CAGGGTCCTTGTGGGCGCACC	0.522													13	34					0	0	1	0	0	A	37512505	G	A	37512505	3	1	108	1	0	0	0	0	1	0	0	0	7927	1377	48	2	199	2	ITGA9	3	37512505	Missense_Mutation	SNP	G	TCGA-EJ-A65J-01A-11D-A30X-08	23852799	37512505	160509925	10	5599											
MON1A	84315	broad.mit.edu	37	chr3	49947931	49947931	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagaaattggtcctttcggcGcacgagtgccacgagctggt	8	9	13	11	4	0	1	0	0	0	1	2	3	1	1	2	3	2	2	2	3	1	2			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr3:49947931G>A	ENST00000417270.1	-	5	1717	c.1024C>T	c.(1024-1026)Cgc>Tgc	p.R342C	MON1A_ENST00000296473.3_Missense_Mutation_p.R431C|CTD-2330K9.3_ENST00000419183.1_Intron|MON1A_ENST00000455683.2_Missense_Mutation_p.R269C			Q86VX9	MON1A_HUMAN	MON1 secretory trafficking family member A	334							protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TCCTTTCGGCGCACGAGTGCC	0.657													3	36					0	0	1	0	0	A	49947931	G	A	49947931	3	1	108	1	0	0	0	0	1	0	0	0	9747	1087	38	1	679	1	MON1A	3	49947931	Missense_Mutation	SNP	G	TCGA-EJ-A65J-01A-11D-A30X-08	12435426	49947931	148074499	11	5600											
C3orf27	23434	broad.mit.edu	37	chr3	128292542	128292542	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaccagctcactgcagcGgaccactatctgatggagcg	11	6	12	12	2	2	1	1	1	1	0	2	4	2	4	2	3	5	2	2	3	2	1			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr3:128292542G>A	ENST00000356020.2	-	3	997	c.31C>T	c.(31-33)Cgc>Tgc	p.R11C		NM_007354.2	NP_031380.1	O15544	GR6_HUMAN	chromosome 3 open reading frame 27	11										large_intestine(2)|lung(5)|prostate(1)	8				GBM - Glioblastoma multiforme(114;0.176)		TCACTGCAGCGGACCACTATC	0.552													15	27					0	0	1	0	0	A	128292542	G	A	128292542	3	1	108	1	0	0	0	0	1	0	0	0	2233	1116	39	1	422	1	C3orf27	3	128292542	Missense_Mutation	SNP	G	TCGA-EJ-A65J-01A-11D-A30X-08	78344611	128292542	69729888	12	5601											
XRN1	54464	broad.mit.edu	37	chr3	142141706	142141706	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaaaactcatagtcaatatActctctcattaaagacaagt	17	12	4	8	0	4	2	3	1	1	1	5	2	4	2	0	0	2	0	0	0	9	4			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr3:142141706A>T	ENST00000264951.4	-	7	886	c.769T>A	c.(769-771)Tat>Aat	p.Y257N	XRN1_ENST00000392981.2_Missense_Mutation_p.Y257N|XRN1_ENST00000544157.1_Missense_Mutation_p.Y47N|XRN1_ENST00000463916.1_Missense_Mutation_p.Y257N	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	257					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TAGTCAATATACTCTCTCATT	0.328													18	52					0	0	1	0	0	T	142141706	A	T	142141706	3	4	108	1	0	0	0	0	1	0	0	0	17519	391	14	5	4495	5	XRN1	3	142141706	Missense_Mutation	SNP	A	TCGA-EJ-A65J-01A-11D-A30X-08	13849164	142141706	55880724	13	5602											
GZMK	3003	broad.mit.edu	37	chr5	54326364	54326364	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcaaaaaatttataccattCtcaagagttacatcagatcc	17	12	3	9	0	3	2	3	0	1	2	5	2	4	2	2	0	2	1	2	0	7	5			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr5:54326364C>G	ENST00000231009.2	+	3	385	c.315C>G	c.(313-315)ttC>ttG	p.F105L	CTD-2313F11.1_ENST00000595218.1_RNA|CTD-2313F11.1_ENST00000596137.1_RNA	NM_002104.2	NP_002095.1	P49863	GRAK_HUMAN	granzyme K (granzyme 3; tryptase II)	105	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				TTATACCATTCTCAAGAGTTA	0.388													29	49					0	0	1	0	0	G	54326364	C	G	54326364	3	3	108	1	0	0	0	0	1	0	0	0	6959	912	32	4	325	4	GZMK	5	54326364	Missense_Mutation	SNP	C	TCGA-EJ-A65J-01A-11D-A30X-08		54326364	126588896	14	5603											
TNIP1	10318	broad.mit.edu	37	chr5	150444612	150444612	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgcctctcctgagggcacGctgcccccagggtcgtagat	6	8	13	14	2	1	2	0	1	1	1	3	3	1	2	4	2	2	3	4	2	1	1			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr5:150444612G>A	ENST00000389378.2	-	2	633	c.45C>T	c.(43-45)agC>agT	p.S15S	TNIP1_ENST00000524280.1_Silent_p.S15S|TNIP1_ENST00000520931.1_Intron|TNIP1_ENST00000523338.1_Silent_p.S15S|TNIP1_ENST00000521591.1_Silent_p.S15S|TNIP1_ENST00000522226.1_Silent_p.S15S|TNIP1_ENST00000523200.1_Silent_p.S15S|TNIP1_ENST00000518977.1_Silent_p.S15S|TNIP1_ENST00000315050.7_Silent_p.S15S	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	15					defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGAGGGCACGCTGCCCCCAG	0.577													3	50					0	0	1	0	0	A	150444612	G	A	150444612	2	1	108	1	0	0	0	0	0	0	0	1	16374	1078	38	1		1	TNIP1	5	150444612	Silent	SNP	G	TCGA-EJ-A65J-01A-11D-A30X-08	96118248	150444612	30470648	15	5604											
F13A1	2162	broad.mit.edu	37	chr6	6225029	6225029	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtccaggccgatggggggAcgccataggcatagatattg	10	7	15	9	2	0	1	0	0	0	1	1	3	1	2	3	5	0	1	3	5	3	4			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr6:6225029A>T	ENST00000264870.3	-	7	1128	c.863T>A	c.(862-864)gTc>gAc	p.V288D		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	288					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CGATGGGGGGACGCCATAGGC	0.507													41	49					0	0	1	0	0	T	6225029	A	T	6225029	3	4	108	1	0	0	0	0	1	0	0	0	5368	275	10	5	1371	5	F13A1	6	6225029	Missense_Mutation	SNP	A	TCGA-EJ-A65J-01A-11D-A30X-08		6225029	164890038	16	5605											
TINAG	27283	broad.mit.edu	37	chr6	54216177	54216177	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agataatgaaagaaatcatgCaaaatggaccagttcaaggt	19	8	9	5	0	2	3	2	1	0	2	2	4	2	4	1	2	1	2	1	2	6	2			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr6:54216177C>T	ENST00000259782.4	+	8	1204	c.1108C>T	c.(1108-1110)Caa>Taa	p.Q370*		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	370					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			AGAAATCATGCAAAATGGACC	0.318													7	20					0	0	1	0	0	T	54216177	C	T	54216177	4	4	108	1	0	0	0	0	0	1	0	0	15981	711	25	2	1138	2	TINAG	6	54216177	Nonsense_Mutation	SNP	C	TCGA-EJ-A65J-01A-11D-A30X-08	47991148	54216177	116898890	17	5606											
MUC17	140453	broad.mit.edu	37	chr7	100683098	100683098	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgctgaagttaccagcatgCcaacctcaactcctagtgaa	12	9	7	13	0	1	2	1	2	0	0	2	2	2	2	4	0	6	3	4	0	6	2			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr7:100683098C>T	ENST00000306151.4	+	3	8465	c.8401C>T	c.(8401-8403)Cca>Tca	p.P2801S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2801	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.P2801S(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TACCAGCATGCCAACCTCAAC	0.502													7	368					0	0	1	0	0	T	100683098	C	T	100683098	3	4	108	1	0	0	0	0	1	0	0	0	10022	739	26	2	8411	2	MUC17	7	100683098	Missense_Mutation	SNP	C	TCGA-EJ-A65J-01A-11D-A30X-08		100683098	58455565	18	5607											
CSMD1	64478	broad.mit.edu	37	chr8	2824233	2824233	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcactactgacaatcattcCgttggtgggtgtgccagggt	8	12	12	9	1	2	1	2	1	0	0	3	1	3	1	2	3	2	1	2	3	2	3			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr8:2824233C>T	ENST00000520002.1	-	59	9517	c.8962G>A	c.(8962-8964)Gga>Aga	p.G2988R	CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000602557.1_Missense_Mutation_p.G2988R|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000537824.1_Missense_Mutation_p.G2987R			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2988	Sushi 23.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACAATCATTCCGTTGGTGGGT	0.527													7	8					0	0	1	0	0	T	2824233	C	T	2824233	3	4	108	1	0	0	0	0	1	0	0	0	3969	661	23	1	1787	1	CSMD1	8	2824233	Missense_Mutation	SNP	C	TCGA-EJ-A65J-01A-11D-A30X-08		2824233	143539789	19	5608											
ADRA1A	148	broad.mit.edu	37	chr8	26628173	26628173	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcagagggcttgaaatcaggGaagaaagaccctggaagaaa	17	5	13	6	0	2	5	2	1	0	4	2	7	2	7	1	3	0	1	1	3	5	1			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr8:26628173G>A	ENST00000380573.3	-	3	1917	c.894C>T	c.(892-894)ttC>ttT	p.F298F	ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000354550.4_Silent_p.F298F|ADRA1A_ENST00000276393.4_Silent_p.F298F|ADRA1A_ENST00000380586.1_Silent_p.F298F|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000519229.1_Silent_p.F298F|ADRA1A_ENST00000380582.3_Silent_p.F298F			P35348	ADA1A_HUMAN	adrenoceptor alpha 1A	298					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	TGAAATCAGGGAAGAAAGACC	0.388													16	25					0	0	1	0	0	A	26628173	G	A	26628173	2	1	108	1	0	0	0	0	0	0	0	1	333	1165	41	2		2	ADRA1A	8	26628173	Silent	SNP	G	TCGA-EJ-A65J-01A-11D-A30X-08	23803940	26628173	119735849	20	5609											
TRPM3	80036	broad.mit.edu	37	chr9	73235281	73235281	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcgcctcaagggaatatcatCctgtaattacagggaaacca	14	9	8	10	1	2	0	2	0	0	0	4	2	3	2	3	2	2	1	3	2	6	3			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr9:73235281C>T	ENST00000377110.2	-	15	2047	c.1803_splice	c.e15-1	p.D602_splice	TRPM3_ENST00000377106.1_Splice_Site_p.D474_splice|TRPM3_ENST00000423814.3_Splice_Site_p.D629_splice|TRPM3_ENST00000377105.1_Splice_Site_p.D461_splice|TRPM3_ENST00000408909.2_Splice_Site_p.D461_splice|TRPM3_ENST00000396280.5_Splice_Site_p.D451_splice|TRPM3_ENST00000358082.3_Splice_Site_p.D464_splice|TRPM3_ENST00000377111.2_Splice_Site_p.D602_splice|TRPM3_ENST00000357533.2_Splice_Site_p.D606_splice|TRPM3_ENST00000396285.1_Splice_Site_p.D449_splice|TRPM3_ENST00000360823.2_Splice_Site_p.D464_splice|TRPM3_ENST00000396292.4_Splice_Site_p.D474_splice	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	627						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GGAATATCATCCTGTAATTAC	0.443													55	85					0	0	1	0	0	T	73235281	C	T	73235281	5	4	108	1	0	0	0	0	0	0	1	0	16648	869	30	2	3363	2	TRPM3	9	73235281	Splice_Site	SNP	C	TCGA-EJ-A65J-01A-11D-A30X-08		73235281	67978150	21	5610											
EGR2	1959	broad.mit.edu	37	chr10	64573204	64573204	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggccacagtagtcacaggcGaagggcttctcaccggtgtg	8	7	14	12	3	2	0	2	0	1	0	3	1	2	0	2	4	0	2	2	4	2	2			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr10:64573204G>A	ENST00000242480.3	-	2	1519	c.1194C>T	c.(1192-1194)ttC>ttT	p.F398F	EGR2_ENST00000411732.1_Silent_p.F348F|EGR2_ENST00000439032.1_Silent_p.F398F	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	398					fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					AGTCACAGGCGAAGGGCTTCT	0.587													4	131					0	0	1	0	0	A	64573204	G	A	64573204	2	1	108	1	0	0	0	0	0	0	0	1	4998	1049	37	1		1	EGR2	10	64573204	Silent	SNP	G	TCGA-EJ-A65J-01A-11D-A30X-08		64573204	70961543	22	5611											
FRG2B	441581	broad.mit.edu	37	chr10	135438836	135438836	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcagctgctcacaggtaaGtggagaatggatctgctgtg	9	11	14	7	0	3	1	2	0	1	1	3	3	3	2	0	3	3	4	0	3	2	1			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr10:135438836G>T	ENST00000443774.1	-	4	656	c.607C>A	c.(607-609)Ctt>Att	p.L203I	FRG2B_ENST00000425520.1_Missense_Mutation_p.L202I			Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	202						nucleus				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		TCACAGGTAAGTGGAGAATGG	0.552													4	61					0.000602214	0.000612421	1	1	0	T	135438836	G	T	135438836	3	4	108	1	0	0	0	0	1	0	0	0	6082	1029	36	4	235	4	FRG2B	10	135438836	Missense_Mutation	SNP	G	TCGA-EJ-A65J-01A-11D-A30X-08	70865632	135438836	95911	23	5612											
CDHR5	53841	broad.mit.edu	37	chr11	618812	618812	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctggttcccatactgggggGcatcggctgagaggttcctg	5	10	16	10	1	0	1	0	1	0	1	3	2	2	1	2	6	1	5	2	6	1	3			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr11:618812G>A	ENST00000358353.3	-	14	2069	c.1747C>T	c.(1747-1749)Ccc>Tcc	p.P583S	CDHR5_ENST00000397542.2_Missense_Mutation_p.P583S|CDHR5_ENST00000349570.7_Intron			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	583	4 X 31 AA approximate tandem repeats.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						ATACTGGGGGGCATCGGCTGA	0.687													4	152					0	0	1	0	0	A	618812	G	A	618812	3	1	108	1	0	0	0	0	1	0	0	0	3144	1203	42	2	802	2	CDHR5	11	618812	Missense_Mutation	SNP	G	TCGA-EJ-A65J-01A-11D-A30X-08		618812	134387704	24	5613											
SSRP1	6749	broad.mit.edu	37	chr11	57094190	57094190	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgcacctcgctcctcctcCtcttctttttgctcttgttc	1	17	5	18	2	3	0	0	0	3	0	8	0	6	0	5	0	1	4	5	0	0	5			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr11:57094190C>T	ENST00000278412.2	-	16	2311	c.2045G>A	c.(2044-2046)aGg>aAg	p.R682K	RP11-872D17.4_ENST00000534162.1_RNA	NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	682	Ser-rich.				DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						GCTCCTCCTCCTCTTCTTTTT	0.542													32	41					0	0	1	0	0	T	57094190	C	T	57094190	3	4	108	1	0	0	0	0	1	0	0	0	15250	681	24	2	92	2	SSRP1	11	57094190	Missense_Mutation	SNP	C	TCGA-EJ-A65J-01A-11D-A30X-08	56475378	57094190	77912326	25	5614											
TAF6L	10629	broad.mit.edu	37	chr11	62554330	62554330	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaagaaggagccggcggcAgccccggactcggtgcggaa	10	2	17	12	5	0	1	0	0	0	1	1	5	0	4	3	6	3	1	3	6	3	0			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr11:62554330A>T	ENST00000294168.3	+	11	1632	c.1431A>T	c.(1429-1431)gcA>gcT	p.A477A	TMEM223_ENST00000527073.1_Intron	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	477					chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	histone deacetylase complex|STAGA complex	DNA binding|protein binding|transcription coactivator activity			endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						AGCCGGCGGCAGCCCCGGACT	0.736											OREG0021030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	9					0	0	1	0	0	T	62554330	A	T	62554330	2	4	108	1	0	0	0	0	0	0	0	1	15588	175	7	5		5	TAF6L	11	62554330	Silent	SNP	A	TCGA-EJ-A65J-01A-11D-A30X-08	5460140	62554330	72452186	26	5615											
GAB2	9846	broad.mit.edu	37	chr11	77934693	77934693	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcttcagaattggtgctGtccgatcggcccacaatcat	8	13	9	11	2	3	1	2	0	1	1	5	2	4	1	2	2	1	1	2	2	2	3			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr11:77934693G>C	ENST00000361507.4	-	6	1417	c.1332C>G	c.(1330-1332)gaC>gaG	p.D444E	GAB2_ENST00000340149.2_Missense_Mutation_p.D406E	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	444					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			AATTGGTGCTGTCCGATCGGC	0.488													105	141					0	0	1	0	0	C	77934693	G	C	77934693	3	2	108	1	0	0	0	0	1	0	0	0	6184	1368	48	4	718	4	GAB2	11	77934693	Missense_Mutation	SNP	G	TCGA-EJ-A65J-01A-11D-A30X-08	15380363	77934693	57071823	27	5616											
ANO2	57101	broad.mit.edu	37	chr12	5853449	5853449	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtcacacaggggacacaTggtgaaggcattctgctggt	9	10	13	9	0	2	1	1	1	1	0	2	2	2	2	0	5	1	2	0	5	1	2			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr12:5853449T>A	ENST00000327087.8	-	12	1284	c.1213A>T	c.(1213-1215)Atg>Ttg	p.M405L	ANO2_ENST00000356134.5_Missense_Mutation_p.M406L|ANO2_ENST00000546188.1_Missense_Mutation_p.M406L			Q9NQ90	ANO2_HUMAN	anoctamin 2	410						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						AGGGGACACATGGTGAAGGCA	0.537													21	36					0	0	1	0	0	A	5853449	T	A	5853449	3	1	108	1	0	0	0	0	1	0	0	0	691	1464	51	5	1843	5	ANO2	12	5853449	Missense_Mutation	SNP	T	TCGA-EJ-A65J-01A-11D-A30X-08		5853449	127998446	28	5617											
ITGA7	3679	broad.mit.edu	37	chr12	56078884	56078884	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcccatcggggcccagctcGggatgcccgtcagcagccag	6	5	14	16	3	1	0	1	0	0	0	3	1	1	1	4	3	5	2	4	3	0	0	rs141486781		TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr12:56078884G>A	ENST00000257879.6	-	25	3587	c.3372C>T	c.(3370-3372)ccC>ccT	p.P1124P	ITGA7_ENST00000555728.1_Silent_p.P1168P|ITGA7_ENST00000257880.7_3'UTR|ITGA7_ENST00000452168.2_Silent_p.P1031P|ITGA7_ENST00000553804.1_Silent_p.P1128P|ITGA7_ENST00000394229.2_3'UTR|ITGA7_ENST00000394230.2_3'UTR|ITGA7_ENST00000347027.6_Silent_p.P1118P	NM_002206.2	NP_002197.2	Q13683	ITA7_HUMAN	integrin, alpha 7	1168					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GGCCCAGCTCGGGATGCCCGT	0.687													13	25					0	0	1	0	0	A	56078884	G	A	56078884	2	1	108	1	0	0	0	0	0	0	0	1	7925	1103	39	1		1	ITGA7	12	56078884	Silent	SNP	G	TCGA-EJ-A65J-01A-11D-A30X-08	50225435	56078884	77773011	29	5618											
AQR	9716	broad.mit.edu	37	chr15	35152284	35152284	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtatcaaatgcatgtacaTgttgtatacaaagtttgcca	13	14	7	7	0	1	0	1	0	0	0	1	0	1	0	1	0	4	6	1	0	6	6			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr15:35152284T>A	ENST00000156471.5	-	34	4327	c.4102A>T	c.(4102-4104)Atg>Ttg	p.M1368L		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	1368						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		TGCATGTACATGTTGTATACA	0.313													21	36					0	0	1	0	0	A	35152284	T	A	35152284	3	1	108	1	0	0	0	0	1	0	0	0	832	1464	51	5	363	5	AQR	15	35152284	Missense_Mutation	SNP	T	TCGA-EJ-A65J-01A-11D-A30X-08		35152284	67379108	30	5619											
SQRDL	58472	broad.mit.edu	37	chr15	45968454	45968454	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attgaagtccgagccgataaAcaagaggctgtatttgagaa	15	9	11	6	2	0	3	0	2	0	2	1	6	1	3	2	1	2	2	2	1	6	4			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr15:45968454A>G	ENST00000260324.7	+	6	1196	c.810A>G	c.(808-810)aaA>aaG	p.K270K	SQRDL_ENST00000568606.1_Silent_p.K270K|RP11-96O20.4_ENST00000564080.1_Silent_p.K270K	NM_021199.2	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	270							oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		GAGCCGATAAACAAGAGGCTG	0.483													49	61					0	0	1	0	0	G	45968454	A	G	45968454	2	3	108	1	0	0	0	0	0	0	0	1	15185	40	2	3		3	SQRDL	15	45968454	Silent	SNP	A	TCGA-EJ-A65J-01A-11D-A30X-08	10816170	45968454	56562938	31	5620											
IFT140	9742	broad.mit.edu	37	chr16	1570724	1570724	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	actcctcaggcaggtccgagGagtccttggccacggtcatc	7	8	12	14	2	2	0	2	0	0	0	6	2	5	1	4	5	0	1	4	5	0	1			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr16:1570724G>A	ENST00000426508.2	-	27	3902	c.3539C>T	c.(3538-3540)tCc>tTc	p.S1180F	IFT140_ENST00000361339.5_Missense_Mutation_p.S374F	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	1180										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				CAGGTCCGAGGAGTCCTTGGC	0.612													7	19					0	0	1	0	0	A	1570724	G	A	1570724	3	1	108	1	0	0	0	0	1	0	0	0	7600	1174	41	2	869	2	IFT140	16	1570724	Missense_Mutation	SNP	G	TCGA-EJ-A65J-01A-11D-A30X-08		1570724	88784029	32	5621											
LONP2	83752	broad.mit.edu	37	chr16	48295427	48295427	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gataatgatgacattgtcatGctagagaaaaaaatacgaac	19	9	8	5	1	1	3	1	2	0	1	1	6	1	3	0	0	3	1	0	0	7	4			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr16:48295427G>T	ENST00000285737.4	+	5	909	c.816G>T	c.(814-816)atG>atT	p.M272I	LONP2_ENST00000535754.1_Missense_Mutation_p.M228I	NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN	lon peptidase 2, peroxisomal	272					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						ACATTGTCATGCTAGAGAAAA	0.338													32	45					1.99505e-19	2.10005e-19	1	1	0	T	48295427	G	T	48295427	3	4	108	1	0	0	0	0	1	0	0	0	8938	1319	46	4	834	4	LONP2	16	48295427	Missense_Mutation	SNP	G	TCGA-EJ-A65J-01A-11D-A30X-08	46724703	48295427	42059326	33	5622											
ZFHX3	463	broad.mit.edu	37	chr16	72830880	72830881	+	Frame_Shift_Ins	INS	-	-	CT																															tccttcggaccggtgttgccINSctctcccccctcggcgctgt																										TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr16:72830880_72830881insCT	ENST00000268489.5	-	9	6372_6373	c.5700_5701insAG	c.(5698-5703)gagcaafs	p.Q1901fs	ZFHX3_ENST00000397992.5_Frame_Shift_Ins_p.Q987fs	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1901					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CCGGTGTTGCCCTCTCCCCCCT	0.545													16	32	---	---	---	---						CT	72830881	-	CT	72830880	7	5	108	1	0	1	1	0	0	0	0	0	17692	623	22	0	5418	0	ZFHX3	16	72830880	Frame_Shift_Ins	INS	-	TCGA-EJ-A65J-01A-11D-A30X-08	24535453	72830880	17523873	34	5623											
DHX40	79665	broad.mit.edu	37	chr17	57684397	57684397	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	atttgtaatgttttcagatgGaatatcgaaagacgtcttaa	14	15	8	4	2	2	2	1	0	1	2	3	4	2	3	0	1	0	2	0	1	5	6			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr17:57684397G>C	ENST00000451169.2	+	21	2419	c.2060G>C	c.(2059-2061)gGa>gCa	p.G687A	DHX40_ENST00000251241.4_Missense_Mutation_p.G735A|DHX40_ENST00000425628.3_Missense_Mutation_p.G658A			Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	735							ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TTTTCAGATGGAATATCGAAA	0.358													11	12					0	0	1	0	0	C	57684397	G	C	57684397	3	2	108	1	0	0	0	0	1	0	0	0	4540	1174	41	4	2274	4	DHX40	17	57684397	Missense_Mutation	SNP	G	TCGA-EJ-A65J-01A-11D-A30X-08		57684397	23510813	35	5624											
NPLOC4	55666	broad.mit.edu	37	chr17	79536065	79536065	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtctcacccaatacatcccGgttttcaataggaaatggat	12	12	7	10	1	2	0	2	0	1	0	4	2	3	2	2	3	1	1	2	3	5	4			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr17:79536065G>A	ENST00000374747.5	-	14	1555	c.1426C>T	c.(1426-1428)Cgg>Tgg	p.R476W	NPLOC4_ENST00000539314.1_Missense_Mutation_p.R315W|NPLOC4_ENST00000331134.6_Missense_Mutation_p.R476W			Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	476					cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			AATACATCCCGGTTTTCAATA	0.358													12	30					0	0	1	0	0	A	79536065	G	A	79536065	3	1	108	1	0	0	0	0	1	0	0	0	10634	1115	39	1	416	1	NPLOC4	17	79536065	Missense_Mutation	SNP	G	TCGA-EJ-A65J-01A-11D-A30X-08	21851668	79536065	1659145	36	5625											
PLIN5	440503	broad.mit.edu	37	chr19	4523867	4523867	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagctcgtccacgcaggcGtgcgcgtgggccacgcgacc	6	4	15	16	7	0	0	0	0	0	0	2	1	1	0	3	2	3	3	3	2	0	0			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr19:4523867G>A	ENST00000381848.3	-	8	1145	c.1065C>T	c.(1063-1065)caC>caT	p.H355H		NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	355						lipid particle				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						CCACGCAGGCGTGCGCGTGGG	0.741													11	17					0	0	1	0	0	A	4523867	G	A	4523867	2	1	108	1	0	0	0	0	0	0	0	1	12141	1136	40	1		1	PLIN5	19	4523867	Silent	SNP	G	TCGA-EJ-A65J-01A-11D-A30X-08		4523867	54605116	37	5626											
ZNF563	147837	broad.mit.edu	37	chr19	12430640	12430640	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcactgaatctctctaccaTatgacatctgtaaaaaatga	15	13	4	9	0	4	3	1	3	3	0	5	3	4	3	1	0	1	1	1	0	6	4			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr19:12430640T>G	ENST00000293725.5	-	4	404	c.199A>C	c.(199-201)Atg>Ctg	p.M67L	ZNF563_ENST00000595977.1_Missense_Mutation_p.M67L	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	67	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CTCTCTACCATATGACATCTG	0.308													29	46					0	0	1	0	0	G	12430640	T	G	12430640	3	3	108	1	0	0	0	0	1	0	0	0	18051	1406	49	5	1235	5	ZNF563	19	12430640	Missense_Mutation	SNP	T	TCGA-EJ-A65J-01A-11D-A30X-08	7906773	12430640	46698343	38	5627											
ZNF536	9745	broad.mit.edu	37	chr19	30934878	30934878	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccgtgcccactctgcggcAagcgcttccgcttcaacagc	7	7	9	18	4	2	0	1	0	1	0	3	0	3	0	3	1	5	3	3	1	2	2			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr19:30934878A>G	ENST00000355537.3	+	2	556	c.409A>G	c.(409-411)Aag>Gag	p.K137E		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	137					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ACTCTGCGGCAAGCGCTTCCG	0.632													10	48					0	0	1	0	0	G	30934878	A	G	30934878	3	3	108	1	0	0	0	0	1	0	0	0	18031	131	5	3	411	3	ZNF536	19	30934878	Missense_Mutation	SNP	A	TCGA-EJ-A65J-01A-11D-A30X-08	18504238	30934878	28194105	39	5628											
LSR	51599	broad.mit.edu	37	chr19	35753475	35753475	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcgtggttgtggtatgcCtggctgccttcctcatcttc	2	17	10	12	1	3	0	1	0	2	0	6	0	4	0	3	3	2	3	3	3	1	5			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr19:35753475C>T	ENST00000602122.1	+	4	1232	c.745C>T	c.(745-747)Ctg>Ttg	p.L249L	LSR_ENST00000361790.3_Silent_p.L268L|LSR_ENST00000597933.1_3'UTR|LSR_ENST00000360798.3_Intron|LSR_ENST00000427250.1_Intron|LSR_ENST00000354900.3_Silent_p.L249L|LSR_ENST00000347609.4_Silent_p.L231L			Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	268					embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TGTGGTATGCCTGGCTGCCTT	0.622													23	80					0	0	1	0	0	T	35753475	C	T	35753475	2	4	108	1	0	0	0	0	0	0	0	1	9109	680	24	2		2	LSR	19	35753475	Silent	SNP	C	TCGA-EJ-A65J-01A-11D-A30X-08	4818597	35753475	23375508	40	5629											
IRGQ	126298	broad.mit.edu	37	chr19	44099419	44099419	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccttgtcgcacagcgctgcGatcagcgcggacttccccaa	7	8	10	16	5	1	0	1	0	0	0	4	2	3	1	3	1	3	2	3	1	1	2			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr19:44099419G>A	ENST00000422989.1	-	2	227	c.72C>T	c.(70-72)atC>atT	p.I24I	IRGQ_ENST00000602269.1_Silent_p.I24I	NM_001007561.2	NP_001007562.1	Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	24							protein binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				ACAGCGCTGCGATCAGCGCGG	0.672													18	47					0	0	1	0	0	A	44099419	G	A	44099419	2	1	108	1	0	0	0	0	0	0	0	1	7883	1048	37	1		1	IRGQ	19	44099419	Silent	SNP	G	TCGA-EJ-A65J-01A-11D-A30X-08	8345944	44099419	15029564	41	5630											
CLPTM1	1209	broad.mit.edu	37	chr19	45495926	45495926	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctaccgcgtcgaccccacccGagtcaacgagtttggcatga	9	7	10	15	5	1	1	1	1	0	0	2	4	1	1	4	1	2	2	4	1	2	2			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr19:45495926G>A	ENST00000541297.2	+	14	2204	c.1739G>A	c.(1738-1740)cGa>cAa	p.R580Q	CLPTM1_ENST00000546079.1_Missense_Mutation_p.R492Q|CLPTM1_ENST00000337392.5_Missense_Mutation_p.R594Q			O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	594					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		GACCCCACCCGAGTCAACGAG	0.647													4	119					0	0	1	0	0	A	45495926	G	A	45495926	3	1	108	1	0	0	0	0	1	0	0	0	3577	1058	37	1	1835	1	CLPTM1	19	45495926	Missense_Mutation	SNP	G	TCGA-EJ-A65J-01A-11D-A30X-08	1396507	45495926	13633057	42	5631											
SLC6A16	28968	broad.mit.edu	37	chr19	49797195	49797195	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccatggccagcaacatcaGgaagaagataaaagaccaga	18	3	9	11	0	1	4	1	0	0	4	1	5	1	5	4	2	2	1	4	2	5	1			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr19:49797195G>A	ENST00000454748.3	-	9	1708	c.1507C>T	c.(1507-1509)Ctg>Ttg	p.L503L	SLC6A16_ENST00000335875.4_Silent_p.L503L			Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	503						integral to membrane|intracellular	neurotransmitter:sodium symporter activity			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		AGCAACATCAGGAAGAAGATA	0.493													33	54					0	0	1	0	0	A	49797195	G	A	49797195	2	1	108	1	0	0	0	0	0	0	0	1	14734	991	35	2		2	SLC6A16	19	49797195	Silent	SNP	G	TCGA-EJ-A65J-01A-11D-A30X-08	4301269	49797195	9331788	43	5632											
ZSCAN5A	79149	broad.mit.edu	37	chr19	56733190	56733190	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaactgcttctggcagacGtcacacgtgtagggcctctc	7	10	12	12	2	3	2	1	1	2	1	4	2	3	2	1	2	2	3	1	2	2	2			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr19:56733190G>A	ENST00000587340.1	-	7	1940	c.1245C>T	c.(1243-1245)gaC>gaT	p.D415D	ZSCAN5A_ENST00000592355.1_Silent_p.D414D|ZSCAN5A_ENST00000587492.1_Silent_p.D269D|ZSCAN5A_ENST00000254165.3_Silent_p.D298D|ZSCAN5A_ENST00000391713.1_Silent_p.D415D			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	415					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TCTGGCAGACGTCACACGTGT	0.498													7	35					0	0	1	0	0	A	56733190	G	A	56733190	2	1	108	1	0	0	0	0	0	0	0	1	18278	1136	40	1		1	ZSCAN5A	19	56733190	Silent	SNP	G	TCGA-EJ-A65J-01A-11D-A30X-08	6935995	56733190	2395793	44	5633											
C22orf23	84645	broad.mit.edu	37	chr22	38340508	38340508	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaggaattctttcctctcCtggatttccttcaccactgg	6	14	7	14	0	3	0	1	0	2	0	6	2	5	2	5	3	0	0	5	3	1	4			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chr22:38340508C>T	ENST00000249079.2	-	6	754	c.498G>A	c.(496-498)caG>caA	p.Q166Q	C22orf23_ENST00000403305.1_Silent_p.Q166Q|C22orf23_ENST00000403026.1_Silent_p.Q166Q			Q9BZE7	EVG1_HUMAN	chromosome 22 open reading frame 23	166										endometrium(3)|kidney(2)|large_intestine(7)	12	Melanoma(58;0.045)					CTTTCCTCTCCTGGATTTCCT	0.537													3	45					0	0	1	0	0	T	38340508	C	T	38340508	2	4	108	1	0	0	0	0	0	0	0	1	2151	680	24	2		2	C22orf23	22	38340508	Silent	SNP	C	TCGA-EJ-A65J-01A-11D-A30X-08		38340508	12964058	45	5634											
CXorf23	256643	broad.mit.edu	37	chrX	19984249	19984249	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttcagagcctcttctagttGactgggagtatttttcttct	6	18	8	9	0	5	2	1	1	4	1	5	3	5	3	1	1	1	2	1	1	2	8			TCGA-EJ-A65J-01A-11D-A30X-08	TCGA-EJ-A65J-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	644108d8-dcc6-4d2d-85c0-ba6ac153cc9b	6773ad95-6d11-4f51-8b2b-5cc5ef4057ea	g.chrX:19984249G>A	ENST00000379687.3	-	2	593	c.560C>T	c.(559-561)tCa>tTa	p.S187L	CXorf23_ENST00000356980.3_Missense_Mutation_p.S187L|CXorf23_ENST00000379682.4_Missense_Mutation_p.S187L	NM_198279.3	NP_938020.2	A2AJT9	CX023_HUMAN	chromosome X open reading frame 23	187						mitochondrion				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						TCTTCTAGTTGACTGGGAGTA	0.408													27	7					0	0	1	0	0	A	19984249	G	A	19984249	3	1	108	1	0	0	0	0	1	0	0	0	4126	1294	45	2	1528	2	CXorf23	23	19984249	Missense_Mutation	SNP	G	TCGA-EJ-A65J-01A-11D-A30X-08		19984249	135286311	46	5635											
MIB2	142678	broad.mit.edu	37	chr1	1560431	1560431	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgggatgtggagacaggccGgagtgtggccagcgtgacgt	7	7	19	8	3	0	2	0	1	0	1	0	5	0	4	2	5	1	0	2	5	0	0			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr1:1560431G>A	ENST00000357210.4	+	6	977	c.761G>A	c.(760-762)cGg>cAg	p.R254Q	MIB2_ENST00000355826.5_Missense_Mutation_p.R297Q|MIB2_ENST00000378708.1_Missense_Mutation_p.R196Q|MIB2_ENST00000518681.1_Intron|MIB2_ENST00000360522.4_Missense_Mutation_p.R254Q|MIB2_ENST00000378712.1_Intron|MIB2_ENST00000520777.1_Missense_Mutation_p.R311Q|MIB2_ENST00000505820.2_Missense_Mutation_p.R311Q|MIB2_ENST00000504599.1_Missense_Mutation_p.R210Q|MIB2_ENST00000378710.3_Missense_Mutation_p.R254Q	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	254	MIB/HERC2 2.				Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GAGACAGGCCGGAGTGTGGCC	0.657													4	140					0	0	1	0	0	A	1560431	G	A	1560431	3	1	109	1	0	0	0	0	1	0	0	0	9616	1116	39	1	954	1	MIB2	1	1560431	Missense_Mutation	SNP	G	TCGA-EJ-A65M-01A-11D-A29Q-08		1560431	247690190	1	5636											
AJAP1	55966	broad.mit.edu	37	chr1	4832521	4832521	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtcagggcatctgtgcccGtgtacaccgatgagacgctg	7	8	14	12	4	2	1	1	1	1	1	2	3	2	1	2	1	2	3	2	1	1	1			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr1:4832521G>A	ENST00000378191.4	+	4	1480	c.1099G>A	c.(1099-1101)Gtg>Atg	p.V367M	AJAP1_ENST00000378190.3_Missense_Mutation_p.V367M	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	367	Targeting signals.				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		ATCTGTGCCCGTGTACACCGA	0.587													5	56					0	0	1	0	0	A	4832521	G	A	4832521	3	1	109	1	0	0	0	0	1	0	0	0	435	1145	40	1	1113	1	AJAP1	1	4832521	Missense_Mutation	SNP	G	TCGA-EJ-A65M-01A-11D-A29Q-08	3272090	4832521	244418100	2	5637											
LPAR3	23566	broad.mit.edu	37	chr1	85279651	85279651	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gggacgcctctctgggttctCctgagagaagcagcagatca	9	8	13	11	1	3	3	1	1	2	2	5	5	3	4	2	2	2	3	2	2	1	1			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr1:85279651C>G	ENST00000440886.1	-	2	978	c.940G>C	c.(940-942)Gag>Cag	p.E314Q	LPAR3_ENST00000370611.3_Missense_Mutation_p.E314Q|LPAR3_ENST00000491034.1_5'UTR			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	314					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						TCTGGGTTCTCCTGAGAGAAG	0.547													28	82					0	0	1	0	0	G	85279651	C	G	85279651	3	3	109	1	0	0	0	0	1	0	0	0	8951	864	30	4	125	4	LPAR3	1	85279651	Missense_Mutation	SNP	C	TCGA-EJ-A65M-01A-11D-A29Q-08	80447130	85279651	163970970	3	5638											
GFI1	2672	broad.mit.edu	37	chr1	92944268	92944268	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggacagtgtggatgaccTcttgaagctcttcccacaga	9	11	11	10	0	2	3	0	2	2	1	3	5	3	5	2	2	1	1	2	2	1	2			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr1:92944268T>G	ENST00000370332.1	-	6	1285	c.967A>C	c.(967-969)Agg>Cgg	p.R323R	GFI1_ENST00000427103.1_Silent_p.R323R|GFI1_ENST00000294702.5_Silent_p.R323R	NM_001127215.1	NP_001120687.1	Q99684	GFI1_HUMAN	growth factor independent 1 transcription repressor	323					negative regulation of calcidiol 1-monooxygenase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction	nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)		GTGGATGACCTCTTGAAGCTC	0.517													23	85					0	0	1	0	0	G	92944268	T	G	92944268	2	3	109	1	0	0	0	0	0	0	0	1	6381	1550	54	5		5	GFI1	1	92944268	Silent	SNP	T	TCGA-EJ-A65M-01A-11D-A29Q-08	7664617	92944268	156306353	4	5639											
INSRR	3645	broad.mit.edu	37	chr1	156828373	156828373	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaaggagaggaagatcacaGgcaggcatgctccccagggc	12	3	14	12	0	1	2	1	0	0	2	2	4	2	3	3	5	1	3	3	5	2	0			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr1:156828373G>A	ENST00000368195.3	-	1	437	c.41C>T	c.(40-42)cCt>cTt	p.P14L	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	14					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GAAGATCACAGGCAGGCATGC	0.632													17	77					0	0	1	0	0	A	156828373	G	A	156828373	3	1	109	1	0	0	0	0	1	0	0	0	7818	1000	35	2	3939	2	INSRR	1	156828373	Missense_Mutation	SNP	G	TCGA-EJ-A65M-01A-11D-A29Q-08	63884105	156828373	92422248	5	5640											
KLHDC9	126823	broad.mit.edu	37	chr1	161069967	161069967	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tggttgggggttttggtgagGatggcaggacagccagtcca	7	10	18	6	0	0	1	0	1	0	0	1	3	1	3	2	7	1	3	2	7	0	3			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr1:161069967G>A	ENST00000368011.4	+	4	1145	c.1003G>A	c.(1003-1005)Gat>Aat	p.D335N	KLHDC9_ENST00000490724.2_3'UTR|KLHDC9_ENST00000392192.2_3'UTR	NM_152366.4	NP_689579.3	Q8NEP7	KLDC9_HUMAN	kelch domain containing 9	335										lung(5)|upper_aerodigestive_tract(1)	6	all_cancers(52;1.28e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			TTTTGGTGAGGATGGCAGGAC	0.502													43	124					0	0	1	0	0	A	161069967	G	A	161069967	3	1	109	1	0	0	0	0	1	0	0	0	8407	1174	41	2	1036	2	KLHDC9	1	161069967	Missense_Mutation	SNP	G	TCGA-EJ-A65M-01A-11D-A29Q-08	4241594	161069967	88180654	6	5641											
CACNA1E	777	broad.mit.edu	37	chr1	181726120	181726120	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggcccaagccgcagcaaccGcatggagatgtctatctttt	10	9	10	12	2	2	1	0	0	2	1	2	2	2	1	3	2	3	3	3	2	3	3			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr1:181726120G>A	ENST00000526775.1	+	29	4295	c.4130G>A	c.(4129-4131)cGc>cAc	p.R1377H	CACNA1E_ENST00000367567.4_Missense_Mutation_p.R1003H|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R1377H|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R1396H|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1328H|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R1396H|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R1347H	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1396					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CGCAGCAACCGCATGGAGATG	0.488													26	92					0	0	1	0	0	A	181726120	G	A	181726120	3	1	109	1	0	0	0	0	1	0	0	0	2560	1087	38	1	4305	1	CACNA1E	1	181726120	Missense_Mutation	SNP	G	TCGA-EJ-A65M-01A-11D-A29Q-08	20656153	181726120	67524501	7	5642											
LAMC1	3915	broad.mit.edu	37	chr1	183085994	183085994	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttctgtctgtacaaacgCtgttggctacagtgtttatt	7	18	8	8	1	3	0	0	0	3	0	3	0	3	0	0	1	3	5	0	1	4	8			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr1:183085994C>G	ENST00000258341.4	+	8	1777	c.1520C>G	c.(1519-1521)gCt>gGt	p.A507G		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	507					axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGTACAAACGCTGTTGGCTAC	0.403													15	101					0	0	1	0	0	G	183085994	C	G	183085994	3	3	109	1	0	0	0	0	1	0	0	0	8653	797	28	4	1550	4	LAMC1	1	183085994	Missense_Mutation	SNP	C	TCGA-EJ-A65M-01A-11D-A29Q-08	1359874	183085994	66164627	8	5643											
PLD5	200150	broad.mit.edu	37	chr1	242511506	242511506	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaaccagaatggcaaagcaGcacaccagggcaaagatcac	17	2	10	12	0	1	2	1	0	0	2	1	2	1	2	2	2	3	5	2	2	4	0			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr1:242511506G>A	ENST00000427495.1	-	2	167	c.42C>T	c.(40-42)tgC>tgT	p.C14C	PLD5_ENST00000442594.2_5'UTR|PLD5_ENST00000536534.1_Silent_p.C76C	NM_001195811.1|NM_001195812.1	NP_001182740.1|NP_001182741.1	Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	76						integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			TGGCAAAGCAGCACACCAGGG	0.453													4	89					0	0	1	0	0	A	242511506	G	A	242511506	2	1	109	1	0	0	0	0	0	0	0	1	12097	986	34	2		2	PLD5	1	242511506	Silent	SNP	G	TCGA-EJ-A65M-01A-11D-A29Q-08	59425512	242511506	6739115	9	5644											
ITGAV	3685	broad.mit.edu	37	chr2	187505689	187505689	+	Frame_Shift_Del	DEL	A	A	-																															gctgccactgacattaatggAgatgagtaagtttaaaaaaa																										TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr2:187505689delA	ENST00000261023.3	+	11	1225	c.951delA	c.(949-951)ggfs	p.G317fs	ITGAV_ENST00000374907.3_Frame_Shift_Del_p.G281fs|ITGAV_ENST00000433736.2_Frame_Shift_Del_p.G271fs	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	integrin, alpha V	317					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		ACATTAATGGAGATGAGTAAG	0.289													2	4	---	---	---	---						-	187505689	A	-	187505689	7	5	109	1	0	1	0	1	0	0	0	0	7932	291	11	0	1044	0	ITGAV	2	187505689	Frame_Shift_Del	DEL	A	TCGA-EJ-A65M-01A-11D-A29Q-08		187505689	55693684	10	5645											
DHX30	22907	broad.mit.edu	37	chr3	47889325	47889325	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catattccagcagcctccagTtggggtgcgcaagattgtct	8	11	11	11	1	1	1	0	0	1	1	3	1	3	1	3	2	3	3	3	2	2	4			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr3:47889325T>C	ENST00000446256.2	+	15	2620	c.2048T>C	c.(2047-2049)gTt>gCt	p.V683A	DHX30_ENST00000348968.4_Missense_Mutation_p.V694A|DHX30_ENST00000445061.1_Missense_Mutation_p.V722A|DHX30_ENST00000457607.1_Missense_Mutation_p.V750A	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	722	Helicase C-terminal.					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CAGCCTCCAGTTGGGGTGCGC	0.527													4	63					0	0	1	0	0	C	47889325	T	C	47889325	3	2	109	1	0	0	0	0	1	0	0	0	4532	1725	60	3	2222	3	DHX30	3	47889325	Missense_Mutation	SNP	T	TCGA-EJ-A65M-01A-11D-A29Q-08		47889325	150133105	11	5646											
KLB	152831	broad.mit.edu	37	chr4	39448817	39448817	+	Missense_Mutation	SNP	A	A	T																															ggtcgacttctgcgcgctcaAccacttcaccactaggttcg																										TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr4:39448817A>T	ENST00000257408.4	+	4	2568	c.2471A>T	c.(2470-2472)aAc>aTc	p.N824I		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	824	Glycosyl hydrolase-1 2.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						TGCGCGCTCAACCACTTCACC	0.657													9	89					0	0	1	0	0	T	39448817	A	T	39448817	3	4	109	1	0	0	0	0	1	0	0	0	8375	43	2	5	2485	5	KLB	4	39448817	Missense_Mutation	SNP	A	TCGA-EJ-A65M-01A-11D-A29Q-08		39448817	151705459	12	5647	30	2									
KLB	152831	broad.mit.edu	37	chr4	39448818	39448818	+	Silent	SNP	C	C	T																															gtcgacttctgcgcgctcaaCcacttcaccactaggttcgt																										TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr4:39448818C>T	ENST00000257408.4	+	4	2569	c.2472C>T	c.(2470-2472)aaC>aaT	p.N824N		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	824	Glycosyl hydrolase-1 2.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						GCGCGCTCAACCACTTCACCA	0.652													10	89					0	0	1	0	0	T	39448818	C	T	39448818	2	4	109	1	0	0	0	0	0	0	0	1	8375	506	18	2		2	KLB	4	39448818	Silent	SNP	C	TCGA-EJ-A65M-01A-11D-A29Q-08	1	39448818	151705458	13	5648	30	2									
UGT2A1	10941	broad.mit.edu	37	chr4	70455304	70455304	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actcgatccagaagactgctCgatccaggggctttacaggt	10	9	11	11	2	0	2	0	0	0	2	4	4	2	2	2	3	2	2	2	3	2	2			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr4:70455304C>T	ENST00000503640.1	-	6	1425	c.1370G>A	c.(1369-1371)cGa>cAa	p.R457Q	UGT2A1_ENST00000286604.4_Missense_Mutation_p.R457Q|UGT2A1_ENST00000514019.1_Missense_Mutation_p.R623Q|UGT2A2_ENST00000457664.2_Missense_Mutation_p.R466Q|UGT2A1_ENST00000512704.1_Missense_Mutation_p.R413Q	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	457					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						GAAGACTGCTCGATCCAGGGG	0.448													4	165					0	0	1	0	0	T	70455304	C	T	70455304	3	4	109	1	0	0	0	0	1	0	0	0	17013	884	31	1	217	1	UGT2A1	4	70455304	Missense_Mutation	SNP	C	TCGA-EJ-A65M-01A-11D-A29Q-08	31006486	70455304	120698972	14	5649											
PLAC8	51316	broad.mit.edu	37	chr4	84015882	84015882	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctgttgatatctctcttGatttggcaaagagtacaatg	10	16	8	7	0	3	3	0	2	3	1	4	3	3	3	0	1	1	3	0	1	4	6			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr4:84015882G>T	ENST00000426923.2	-	4	384	c.306C>A	c.(304-306)atC>atA	p.I102I	PLAC8_ENST00000505406.1_Silent_p.I102I|PLAC8_ENST00000311507.4_Silent_p.I102I|PLAC8_ENST00000509973.1_Silent_p.I45I|PLAC8_ENST00000515389.1_5'UTR|PLAC8_ENST00000411416.2_Silent_p.I102I	NM_001130715.1	NP_001124187.1	Q9NZF1	PLAC8_HUMAN	placenta-specific 8	102										large_intestine(2)|lung(3)|ovary(1)	6		Hepatocellular(203;0.114)				TATCTCTCTTGATTTGGCAAA	0.353													5	44					0.0215528	0.0218744	1	1	0	T	84015882	G	T	84015882	2	4	109	1	0	0	0	0	0	0	0	1	12063	1280	45	4		4	PLAC8	4	84015882	Silent	SNP	G	TCGA-EJ-A65M-01A-11D-A29Q-08	13560578	84015882	107138394	15	5650											
RAI14	26064	broad.mit.edu	37	chr5	34824457	34824457	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtgaaaagagaaaaggaaaAtattcagactctcttgaaat	19	9	9	4	0	2	4	1	2	1	2	3	6	2	5	0	2	0	0	0	2	8	3			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr5:34824457A>C	ENST00000265109.3	+	15	2797	c.2510A>C	c.(2509-2511)aAt>aCt	p.N837T	RAI14_ENST00000515799.1_Missense_Mutation_p.N840T|RAI14_ENST00000428746.2_Missense_Mutation_p.N837T|RAI14_ENST00000503673.1_Missense_Mutation_p.N837T|RAI14_ENST00000397449.1_Missense_Mutation_p.N830T|RAI14_ENST00000506376.1_Missense_Mutation_p.N829T|RAI14_ENST00000512629.1_Missense_Mutation_p.N808T	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	837						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					GAAAAGGAAAATATTCAGACT	0.383													31	97					0	0	1	0	0	C	34824457	A	C	34824457	3	2	109	1	0	0	0	0	1	0	0	0	13060	101	4	5	2629	5	RAI14	5	34824457	Missense_Mutation	SNP	A	TCGA-EJ-A65M-01A-11D-A29Q-08		34824457	146090803	16	5651											
VCAN	1462	broad.mit.edu	37	chr5	82836888	82836888	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attagacgttttacttcccaCggcaacatccctgccaattc	10	12	5	14	2	0	1	0	0	0	1	3	1	2	1	3	1	3	2	3	1	4	5			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr5:82836888C>T	ENST00000265077.3	+	8	8631	c.8066C>T	c.(8065-8067)aCg>aTg	p.T2689M	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.T1702M|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000512090.1_RNA	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2689	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TTACTTCCCACGGCAACATCC	0.438													23	112					0	0	1	0	0	T	82836888	C	T	82836888	3	4	109	1	0	0	0	0	1	0	0	0	17198	536	19	1	8092	1	VCAN	5	82836888	Missense_Mutation	SNP	C	TCGA-EJ-A65M-01A-11D-A29Q-08	48012431	82836888	98078372	17	5652											
PCDHB16	0	broad.mit.edu	37	chr5	140563340	140563340	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtcaagaacttttacacCttggtaacggagagagcact	13	10	9	9	1	2	2	2	0	0	2	2	4	2	3	1	2	4	2	1	2	4	4			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr5:140563340C>A	ENST00000361016.2	+	1	2361	c.1206C>A	c.(1204-1206)acC>acA	p.T402T		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		402	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTTTTACACCTTGGTAACGG	0.473													21	91					8.10497e-08	9.03505e-08	1	1	0	A	140563340	C	A	140563340	2	1	109	1	0	0	0	0	0	0	0	1	11588	668	24	4		4	PCDHB16	5	140563340	Silent	SNP	C	TCGA-EJ-A65M-01A-11D-A29Q-08	57726452	140563340	40351920	18	5653											
ARAP3	64411	broad.mit.edu	37	chr5	141049577	141049577	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gaggggttcagggctgttttCcgatgcaaacatttccagag	9	11	13	8	1	1	1	1	0	0	1	3	3	3	1	2	3	2	4	2	3	1	4			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr5:141049577C>G	ENST00000239440.4	-	15	2226	c.2161G>C	c.(2161-2163)Gaa>Caa	p.E721Q	ARAP3_ENST00000513878.1_Missense_Mutation_p.E383Q|ARAP3_ENST00000508305.1_Missense_Mutation_p.E623Q	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	721					cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GGGCTGTTTTCCGATGCAAAC	0.587													8	95					0	0	1	0	0	G	141049577	C	G	141049577	3	3	109	1	0	0	0	0	1	0	0	0	837	864	30	4	2549	4	ARAP3	5	141049577	Missense_Mutation	SNP	C	TCGA-EJ-A65M-01A-11D-A29Q-08	486237	141049577	39865683	19	5654											
PKHD1	5314	broad.mit.edu	37	chr6	51613289	51613289	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggccagctgtgccaaacacaAtattgtcatttaaaagtact	14	11	7	9	0	1	0	1	0	0	0	1	0	1	0	2	1	4	2	2	1	6	5			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr6:51613289A>G	ENST00000371117.3	-	58	9400	c.9125T>C	c.(9124-9126)aTt>aCt	p.I3042T	PKHD1_ENST00000340994.4_Missense_Mutation_p.I3042T	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3042					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GCCAAACACAATATTGTCATT	0.498													26	79					0	0	1	0	0	G	51613289	A	G	51613289	3	3	109	1	0	0	0	0	1	0	0	0	12019	101	4	3	3178	3	PKHD1	6	51613289	Missense_Mutation	SNP	A	TCGA-EJ-A65M-01A-11D-A29Q-08		51613289	119501778	20	5655											
DST	667	broad.mit.edu	37	chr6	56373517	56373517	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgtgtgtatgttctccCaaatgaaaaccatttggtca	11	13	8	9	0	2	1	1	1	1	0	3	1	2	1	3	1	1	2	3	1	4	3			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr6:56373517C>T	ENST00000370754.5	-	75	18955	c.18956G>A	c.(18955-18957)tGg>tAg	p.W6319*	DST_ENST00000421834.2_Nonsense_Mutation_p.W4053*|DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_Nonsense_Mutation_p.W3944*|DST_ENST00000361203.3_Nonsense_Mutation_p.W6030*|DST_ENST00000244364.6_Nonsense_Mutation_p.W3727*|DST_ENST00000446842.2_Nonsense_Mutation_p.W5815*|DST_ENST00000340834.4_5'UTR|DST_ENST00000370769.4_Nonsense_Mutation_p.W6141*			Q03001	DYST_HUMAN	dystonin	6139					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TATGTTCTCCCAAATGAAAAC	0.438													25	67					0	0	1	0	0	T	56373517	C	T	56373517	4	4	109	1	0	0	0	0	0	1	0	0	4809	595	21	2	4451	2	DST	6	56373517	Nonsense_Mutation	SNP	C	TCGA-EJ-A65M-01A-11D-A29Q-08	4760228	56373517	114741550	21	5656											
DST	667	broad.mit.edu	37	chr6	56471131	56471131	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tactcttcctttcttcctctCcaactgccactgtcatcaaa	8	15	2	16	0	5	0	2	0	3	0	8	0	7	0	4	0	3	0	4	0	3	4			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr6:56471131C>G	ENST00000370754.5	-	39	8195	c.8196G>C	c.(8194-8196)tgG>tgC	p.W2732C	DST_ENST00000421834.2_Intron|DST_ENST00000312431.6_Missense_Mutation_p.W2554C|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Missense_Mutation_p.W2554C|DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Missense_Mutation_p.W2228C|DST_ENST00000370769.4_Missense_Mutation_p.W2554C			Q03001	DYST_HUMAN	dystonin	2554					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTCTTCCTCTCCAACTGCCAC	0.368													6	26					0	0	1	0	0	G	56471131	C	G	56471131	3	3	109	1	0	0	0	0	1	0	0	0	4809	870	30	4		4	DST	6	56471131	Missense_Mutation	SNP	C	TCGA-EJ-A65M-01A-11D-A29Q-08	97614	56471131	114643936	22	5657											
SYNE1	23345	broad.mit.edu	37	chr6	152469436	152469436	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgtctgcagagcggtcgtgCcagtgcaggtccgacagagc	7	7	15	12	3	1	2	0	0	1	2	3	3	2	2	2	2	5	2	2	2	0	0			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr6:152469436C>T	ENST00000367255.5	-	137	25321	c.24720G>A	c.(24718-24720)tgG>tgA	p.W8240*	SYNE1_ENST00000341594.5_Nonsense_Mutation_p.W7852*|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.W8240*|SYNE1_ENST00000354674.4_Nonsense_Mutation_p.W395*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.W8169*|SYNE1_ENST00000356820.4_Nonsense_Mutation_p.W2764*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.W8169*|SYNE1_ENST00000539504.1_Nonsense_Mutation_p.W395*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8240					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGCGGTCGTGCCAGTGCAGGT	0.617										HNSCC(10;0.0054)			9	86					0	0	1	0	0	T	152469436	C	T	152469436	4	4	109	1	0	0	0	0	0	1	0	0	15502	740	26	2	1786	2	SYNE1	6	152469436	Nonsense_Mutation	SNP	C	TCGA-EJ-A65M-01A-11D-A29Q-08	95998305	152469436	18645631	23	5658											
ALKBH4	54784	broad.mit.edu	37	chr7	102100103	102100103	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggtcacggtccatgagcCgcaccaactcggcttcttcc	7	8	11	15	3	2	1	1	1	1	0	5	1	4	1	4	4	2	2	4	4	1	2			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr7:102100103C>T	ENST00000292566.3	-	2	308	c.269G>A	c.(268-270)cGg>cAg	p.R90Q		NM_017621.3	NP_060091.1	Q9NXW9	ALKB4_HUMAN	alkB, alkylation repair homolog 4 (E. coli)	90						cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(1)|lung(5)|skin(2)	8						GTCCATGAGCCGCACCAACTC	0.627													47	180					0	0	1	0	0	T	102100103	C	T	102100103	3	4	109	1	0	0	0	0	1	0	0	0	525	652	23	1	647	1	ALKBH4	7	102100103	Missense_Mutation	SNP	C	TCGA-EJ-A65M-01A-11D-A29Q-08		102100103	57038560	24	5659											
EZH2	0	broad.mit.edu	37	chr7	148544345	148544345	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgattttacacgcttccGccaacaaactggtcccttct	8	13	5	15	2	2	1	0	1	2	0	4	1	4	1	3	1	3	1	3	1	3	4			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr7:148544345G>A	ENST00000320356.2	-	2	167	c.46C>T	c.(46-48)Cgg>Tgg	p.R16W	EZH2_ENST00000460911.1_Missense_Mutation_p.R16W|EZH2_ENST00000478654.1_Missense_Mutation_p.R16W|EZH2_ENST00000350995.2_Missense_Mutation_p.R16W|EZH2_ENST00000483967.1_Missense_Mutation_p.R16W|EZH2_ENST00000536783.1_5'UTR|EZH2_ENST00000541220.1_Missense_Mutation_p.R16W|EZH2_ENST00000476773.1_Missense_Mutation_p.R16W	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	Q15910	EZH2_HUMAN	enhancer of zeste homolog 2 (Drosophila)	16	Interaction with DNMT1, DNMT3A and DNMT3B.				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			ACACGCTTCCGCCAACAAACT	0.388			Mis		DLBCL								5	351					0	0	1	0	0	A	148544345	G	A	148544345	3	1	109	1	0	0	0	0	1	0	0	0	5362	1086	38	1	2285	1	EZH2	7	148544345	Missense_Mutation	SNP	G	TCGA-EJ-A65M-01A-11D-A29Q-08	46444242	148544345	10594318	25	5660											
WDR60	55112	broad.mit.edu	37	chr7	158716310	158716310	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagcatttttactgtttgccGgaacagcgcacggctcagtt	9	12	10	10	3	1	0	1	0	0	0	1	1	1	1	1	2	5	5	1	2	3	5			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr7:158716310G>A	ENST00000407559.3	+	17	2301	c.2143G>A	c.(2143-2145)Gga>Aga	p.G715R		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	715										NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		ACTGTTTGCCGGAACAGCGCA	0.502													4	159					0	0	1	0	0	A	158716310	G	A	158716310	3	1	109	1	0	0	0	0	1	0	0	0	17371	1117	39	1	2209	1	WDR60	7	158716310	Missense_Mutation	SNP	G	TCGA-EJ-A65M-01A-11D-A29Q-08	10171965	158716310	422353	26	5661											
DLGAP2	9228	broad.mit.edu	37	chr8	1624784	1624784	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaagtggaagatgagaagcGgtaactcagcccctcctgac	12	6	12	11	1	1	3	1	2	0	2	2	5	2	4	3	2	3	2	3	2	4	1			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr8:1624784G>A	ENST00000421627.2	+	8	2182	c.2048_splice	c.e8+1	p.R683_splice		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	762					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GATGAGAAGCGGTAACTCAGC	0.582													3	26					0	0	1	0	0	A	1624784	G	A	1624784	5	1	109	1	0	0	0	0	0	0	1	0	4588	1130	39	1	2074	1	DLGAP2	8	1624784	Splice_Site	SNP	G	TCGA-EJ-A65M-01A-11D-A29Q-08		1624784	144739238	27	5662											
RP1L1	94137	broad.mit.edu	37	chr8	10474068	10474068	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcacacaccagcacagagggGctgtgcagcagggcctgcag	10	3	15	13	0	0	1	0	0	0	1	0	1	0	1	2	3	4	6	2	3	0	0			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr8:10474068G>T	ENST00000382483.3	-	3	862	c.639C>A	c.(637-639)agC>agA	p.S213R		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	213					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GCACAGAGGGGCTGTGCAGCA	0.632													14	45					4.3838e-07	4.80804e-07	1	1	0	T	10474068	G	T	10474068	3	4	109	1	0	0	0	0	1	0	0	0	13585	1194	42	4	6571	4	RP1L1	8	10474068	Missense_Mutation	SNP	G	TCGA-EJ-A65M-01A-11D-A29Q-08	8849284	10474068	135889954	28	5663											
OPLAH	26873	broad.mit.edu	37	chr8	145109715	145109715	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcgggcagcacccctcacCggtgtgataacagtcaggtc	9	6	13	13	2	2	1	2	1	0	0	3	1	2	1	3	4	2	2	3	4	1	1			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr8:145109715C>T	ENST00000426825.1	-	18	2592	c.2511_splice	c.e18+1	p.P837_splice	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	837							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	CACCCCTCACCGGTGTGATAA	0.672													14	52					0	0	1	0	0	T	145109715	C	T	145109715	5	4	109	1	0	0	0	0	0	0	1	0	10924	666	23	1	1397	1	OPLAH	8	145109715	Splice_Site	SNP	C	TCGA-EJ-A65M-01A-11D-A29Q-08	134635647	145109715	1254307	29	5664											
ZNF37A	7587	broad.mit.edu	37	chr10	38406449	38406449	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttctgaatataataaaaatGggaacagcttctggctgaat	15	12	8	6	0	2	2	0	2	2	0	2	3	2	3	0	2	2	2	0	2	8	5			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr10:38406449G>T	ENST00000351773.3	+	8	1200	c.370G>T	c.(370-372)Ggg>Tgg	p.G124W	ZNF37A_ENST00000361085.4_Missense_Mutation_p.G124W	NM_001007094.2	NP_001007095.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	124						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						TAATAAAAATGGGAACAGCTT	0.333													13	170					0.0135373	0.0139475	1	1	0	T	38406449	G	T	38406449	3	4	109	1	0	0	0	0	1	0	0	0	17929	1348	47	4	384	4	ZNF37A	10	38406449	Missense_Mutation	SNP	G	TCGA-EJ-A65M-01A-11D-A29Q-08		38406449	97128298	30	5665											
GPRIN2	9721	broad.mit.edu	37	chr10	47000209	47000209	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcgggctgtcatgcagtcCctgcggcgccccagctgctg	3	8	14	16	3	1	0	1	0	0	0	2	0	2	0	3	2	5	4	3	2	0	0			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr10:47000209C>T	ENST00000374314.4	+	1	2284	c.1329C>T	c.(1327-1329)tcC>tcT	p.S443S	GPRIN2_ENST00000374317.1_Silent_p.S443S			O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	443										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						TCATGCAGTCCCTGCGGCGCC	0.706													3	20					0	0	1	0	0	T	47000209	C	T	47000209	2	4	109	1	0	0	0	0	0	0	0	1	6771	610	22	2		2	GPRIN2	10	47000209	Silent	SNP	C	TCGA-EJ-A65M-01A-11D-A29Q-08	8593760	47000209	88534538	31	5666											
JMJD1C	221037	broad.mit.edu	37	chr10	64968222	64968222	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgatactgagcgttctacAtccatatcttgtttgatgat	9	17	7	8	1	3	4	0	4	3	0	4	4	4	4	1	0	3	2	1	0	3	6			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr10:64968222A>G	ENST00000399262.2	-	10	3425	c.3207T>C	c.(3205-3207)gaT>gaC	p.D1069D	JMJD1C_ENST00000402544.1_Silent_p.D850D|JMJD1C_ENST00000399251.1_Silent_p.D850D|JMJD1C_ENST00000542921.1_Silent_p.D887D	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1069					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					AGCGTTCTACATCCATATCTT	0.388													70	167					0	0	1	0	0	G	64968222	A	G	64968222	2	3	109	1	0	0	0	0	0	0	0	1	7994	214	8	3		3	JMJD1C	10	64968222	Silent	SNP	A	TCGA-EJ-A65M-01A-11D-A29Q-08	17968013	64968222	70566525	32	5667											
OR52E8	390079	broad.mit.edu	37	chr11	5878305	5878305	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatccagtaacaagagagAtatgttgccaaggccaaacc	17	6	8	10	0	0	2	0	0	0	2	1	3	1	2	4	1	4	2	4	1	6	3			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr11:5878305A>G	ENST00000537935.1	-	1	659	c.628T>C	c.(628-630)Tct>Cct	p.S210P	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AACAAGAGAGATATGTTGCCA	0.478													5	106					0	0	1	0	0	G	5878305	A	G	5878305	3	3	109	1	0	0	0	0	1	0	0	0	11166	333	12	3	327	3	OR52E8	11	5878305	Missense_Mutation	SNP	A	TCGA-EJ-A65M-01A-11D-A29Q-08		5878305	129128211	33	5668											
CNGA4	1262	broad.mit.edu	37	chr11	6261374	6261374	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcacctggagtttcttctTggacctggcttccctgatgc	4	14	10	13	1	2	1	0	1	2	0	4	3	3	3	3	3	1	3	3	3	0	4			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr11:6261374T>G	ENST00000379936.2	+	4	465	c.350T>G	c.(349-351)tTg>tGg	p.L117W	CNGA4_ENST00000533426.1_Intron	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	117					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGTTTCTTCTTGGACCTGGCT	0.632													97	238					0	0	1	0	0	G	6261374	T	G	6261374	3	3	109	1	0	0	0	0	1	0	0	0	3622	1821	63	5	364	5	CNGA4	11	6261374	Missense_Mutation	SNP	T	TCGA-EJ-A65M-01A-11D-A29Q-08	383069	6261374	128745142	34	5669											
DSCAML1	57453	broad.mit.edu	37	chr11	117307910	117307910	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgttgcaagccctcatgcGcagctcgtaccacgtggcct	7	9	10	15	3	1	0	1	0	0	0	2	0	1	0	3	1	5	5	3	1	2	2			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr11:117307910G>A	ENST00000321322.6	-	26	4829	c.4828C>T	c.(4828-4830)Cgc>Tgc	p.R1610C	DSCAML1_ENST00000527706.1_Missense_Mutation_p.R1340C	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1550					axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GCCCTCATGCGCAGCTCGTAC	0.647													4	198					0	0	1	0	0	A	117307910	G	A	117307910	3	1	109	1	0	0	0	0	1	0	0	0	4795	1087	38	1	1545	1	DSCAML1	11	117307910	Missense_Mutation	SNP	G	TCGA-EJ-A65M-01A-11D-A29Q-08	111046536	117307910	17698606	35	5670											
ANKS1B	56899	broad.mit.edu	37	chr12	100166698	100166698	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cattcccccccgccttacttActacactctggcttccattt	6	14	3	18	1	1	0	0	0	1	0	3	0	3	0	5	1	3	1	5	1	3	6			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr12:100166698A>G	ENST00000547776.2	-	8	1128		c.e8+1		ANKS1B_ENST00000329257.7_Splice_Site|ANKS1B_ENST00000547010.1_Intron	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B							Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CGCCTTACTTACTACACTCTG	0.433													7	47					0	0	1	0	0	G	100166698	A	G	100166698	5	3	109	1	0	0	0	0	0	0	1	0	683	405	14	3	2980	3	ANKS1B	12	100166698	Splice_Site	SNP	A	TCGA-EJ-A65M-01A-11D-A29Q-08		100166698	33685197	36	5671											
ACSM5	54988	broad.mit.edu	37	chr16	20442593	20442593	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggagaagaggggaatgttGccgtccgtatcagacccact	10	8	13	10	2	1	3	1	0	0	3	2	5	2	4	3	3	1	2	3	3	3	2			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr16:20442593G>A	ENST00000331849.4	+	10	1405	c.1258G>A	c.(1258-1260)Gcc>Acc	p.A420T		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	420					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GGGGAATGTTGCCGTCCGTAT	0.512													9	162					0	0	1	0	0	A	20442593	G	A	20442593	3	1	109	1	0	0	0	0	1	0	0	0	187	1319	46	2	1292	2	ACSM5	16	20442593	Missense_Mutation	SNP	G	TCGA-EJ-A65M-01A-11D-A29Q-08		20442593	69912160	37	5672											
MAZ	4150	broad.mit.edu	37	chr16	29820948	29820948	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccgcatcctgtgcaagcTgtgcagcgtgcactgcaaga	9	8	12	12	2	0	2	0	1	0	1	1	2	1	2	2	0	6	6	2	0	2	0			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr16:29820948T>A	ENST00000219782.6	+	5	1473	c.1367T>A	c.(1366-1368)cTg>cAg	p.L456Q	MAZ_ENST00000566906.2_Intron|AC009133.14_ENST00000563806.1_RNA|MAZ_ENST00000562337.1_Intron|MAZ_ENST00000545521.1_Intron|AC009133.14_ENST00000569981.1_RNA|MAZ_ENST00000563402.1_Intron|AC009133.20_ENST00000569039.1_RNA|MAZ_ENST00000322945.6_Intron|MAZ_ENST00000568544.1_Intron|MAZ_ENST00000568282.1_Missense_Mutation_p.L57Q	NM_001042539.1	NP_001036004.1	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)	194					regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter	nucleus	DNA binding|protein binding|RNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						CTGTGCAAGCTGTGCAGCGTG	0.711													13	35					0	0	1	0	0	A	29820948	T	A	29820948	3	1	109	1	0	0	0	0	1	0	0	0	9390	1580	55	5	1385	5	MAZ	16	29820948	Missense_Mutation	SNP	T	TCGA-EJ-A65M-01A-11D-A29Q-08	9378355	29820948	60533805	38	5673											
MYO15A	51168	broad.mit.edu	37	chr17	18023064	18023064	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgattacgaacccccatatgCgcccccgtcggggtactcgt	7	8	10	16	6	0	0	0	0	0	0	2	2	0	0	4	2	4	1	4	2	4	3			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr17:18023064C>T	ENST00000205890.5	+	2	1288	c.950C>T	c.(949-951)gCg>gTg	p.A317V		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	317	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CCCCCATATGCGCCCCCGTCG	0.602													4	138					0	0	1	0	0	T	18023064	C	T	18023064	3	4	109	1	0	0	0	0	1	0	0	0	10111	768	27	1	952	1	MYO15A	17	18023064	Missense_Mutation	SNP	C	TCGA-EJ-A65M-01A-11D-A29Q-08		18023064	63172146	39	5674											
CNTNAP1	8506	broad.mit.edu	37	chr17	40843951	40843951	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcgggggtcttcctagaGaatatggggggcccttactg	6	10	14	11	1	1	1	0	0	1	1	3	2	2	1	3	5	1	0	3	5	4	4			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr17:40843951G>T	ENST00000264638.4	+	16	2689	c.2472G>T	c.(2470-2472)gaG>gaT	p.E824D	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	824	Laminin G-like 3.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TCTTCCTAGAGAATATGGGGG	0.607													6	370					8.12818e-05	8.6362e-05	1	1	0	T	40843951	G	T	40843951	3	4	109	1	0	0	0	0	1	0	0	0	3669	933	33	4	2534	4	CNTNAP1	17	40843951	Missense_Mutation	SNP	G	TCGA-EJ-A65M-01A-11D-A29Q-08	22820887	40843951	40351259	40	5675											
SPOP	8405	broad.mit.edu	37	chr17	47696688	47696688	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacagctgaccagtaacaggTaaagtgacaggtaatctttg	14	9	11	7	0	1	2	0	2	1	0	1	3	1	2	1	2	2	4	1	2	4	4			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr17:47696688T>C	ENST00000393331.3	-	6	730	c.260A>G	c.(259-261)tAc>tGc	p.Y87C	SPOP_ENST00000503676.1_Missense_Mutation_p.Y87C|SPOP_ENST00000513080.1_5'UTR|SPOP_ENST00000393328.2_Missense_Mutation_p.Y87C|SPOP_ENST00000347630.2_Missense_Mutation_p.Y87C|SPOP_ENST00000504102.1_Missense_Mutation_p.Y87C	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	87	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.Y87C(2)|p.Y87S(2)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CAGTAACAGGTAAAGTGACAG	0.403										Prostate(2;0.17)			20	60					0	0	1	0	0	C	47696688	T	C	47696688	3	2	109	1	0	0	0	0	1	0	0	0	15140	1638	57	3	892	3	SPOP	17	47696688	Missense_Mutation	SNP	T	TCGA-EJ-A65M-01A-11D-A29Q-08	6852737	47696688	33498522	41	5676											
CBX2	84733	broad.mit.edu	37	chr17	77758020	77758020	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagctccatcgtgcactacAtgaaccggatgacccagagc	12	6	10	13	2	0	4	0	2	0	2	2	5	1	5	3	1	5	2	3	1	2	1			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr17:77758020A>G	ENST00000310942.4	+	5	882	c.778A>G	c.(778-780)Atg>Gtg	p.M260V		NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	260					cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CGTGCACTACATGAACCGGAT	0.657													5	108					0	0	1	0	0	G	77758020	A	G	77758020	3	3	109	1	0	0	0	0	1	0	0	0	2736	217	8	3	1144	3	CBX2	17	77758020	Missense_Mutation	SNP	A	TCGA-EJ-A65M-01A-11D-A29Q-08	30061332	77758020	3437190	42	5677											
VAV1	7409	broad.mit.edu	37	chr19	6772975	6772975	+	Translation_Start_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttaacaacctgctacccCatgccatcaacctgcgtgag	10	9	7	15	1	1	1	1	1	0	0	1	1	1	1	5	0	8	2	5	0	4	2			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr19:6772975C>A	ENST00000539284.1	+	0	7				VAV1_ENST00000602142.1_Missense_Mutation_p.H53N|VAV1_ENST00000596764.1_Missense_Mutation_p.H53N|VAV1_ENST00000304076.2_Missense_Mutation_p.H53N			P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CCTGCTACCCCATGCCATCAA	0.657													5	161					8.12818e-05	8.6362e-05	1	1	0	A	6772975	C	A	6772975	1	1	109	1	0	0	0	0	0	0	0	0	17191	594	21	4		4	VAV1	19	6772975	Translation_Start_Site	SNP	C	TCGA-EJ-A65M-01A-11D-A29Q-08		6772975	52356008	43	5678											
CRTC1	23373	broad.mit.edu	37	chr19	18864349	18864349	+	Frame_Shift_Del	DEL	C	C	-																															aggaatggaagagaccacatCagaggcagacaaaaaccttt																										TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr19:18864349delC	ENST00000338797.6	+	7	651	c.626delC	c.(625-627)tafs	p.S209fs	CRTC1_ENST00000601916.1_Frame_Shift_Del_p.S118fs|CRTC1_ENST00000321949.8_Frame_Shift_Del_p.S193fs|CRTC1_ENST00000594658.1_Frame_Shift_Del_p.S152fs	NM_001098482.1	NP_001091952.1	Q6UUV9	CRTC1_HUMAN	CREB regulated transcription coactivator 1	193					interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						GAGACCACATCAGAGGCAGAC	0.453													102	349	---	---	---	---						-	18864349	C	-	18864349	7	5	109	1	0	1	0	1	0	0	0	0	3922	838	29	0	652	0	CRTC1	19	18864349	Frame_Shift_Del	DEL	C	TCGA-EJ-A65M-01A-11D-A29Q-08	12091374	18864349	40264634	44	5679											
RYR1	6261	broad.mit.edu	37	chr19	38960079	38960079	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catttgccatcaacatgcagCgcccagtcaccacctggttc	9	9	7	16	1	2	0	2	0	0	0	3	0	2	0	4	1	4	2	4	1	1	2			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr19:38960079C>T	ENST00000355481.4	+	27	3822	c.3691C>T	c.(3691-3693)Cgc>Tgc	p.R1231C	RYR1_ENST00000360985.3_Missense_Mutation_p.R1231C|RYR1_ENST00000359596.3_Missense_Mutation_p.R1231C	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1231	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CAACATGCAGCGCCCAGTCAC	0.577													8	216					0	0	1	0	0	T	38960079	C	T	38960079	3	4	109	1	0	0	0	0	1	0	0	0	13820	768	27	1	3797	1	RYR1	19	38960079	Missense_Mutation	SNP	C	TCGA-EJ-A65M-01A-11D-A29Q-08	20095730	38960079	20168904	45	5680											
MAP3K10	4294	broad.mit.edu	37	chr19	40715127	40715127	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggctgagggccattcgccGtgagtatctcccaaggccct	6	8	12	15	3	1	2	0	2	1	0	3	2	1	2	5	3	0	2	5	3	2	2			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr19:40715127G>A	ENST00000253055.3	+	6	1840		c.e6+1			NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10						activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GCCATTCGCCGTGAGTATCTC	0.552													4	98					0	0	1	0	0	A	40715127	G	A	40715127	5	1	109	1	0	0	0	0	0	0	1	0	9294	1159	40	1	1575	1	MAP3K10	19	40715127	Splice_Site	SNP	G	TCGA-EJ-A65M-01A-11D-A29Q-08	1755048	40715127	18413856	46	5681											
SPTBN4	57731	broad.mit.edu	37	chr19	41029534	41029534	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctcaggaggctgtgacccGgctgctggagaagtaggtcc	7	7	17	10	1	1	2	1	1	0	1	2	4	2	3	2	6	1	5	2	6	2	1			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr19:41029534G>A	ENST00000352632.3	+	17	3931	c.3845G>A	c.(3844-3846)cGg>cAg	p.R1282Q	SPTBN4_ENST00000598249.1_Missense_Mutation_p.R1282Q|SPTBN4_ENST00000338932.3_Missense_Mutation_p.R1282Q|SPTBN4_ENST00000344104.3_Missense_Mutation_p.R1282Q|SPTBN4_ENST00000595535.1_Missense_Mutation_p.R1282Q			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1282					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCTGTGACCCGGCTGCTGGAG	0.657													4	80					0	0	1	0	0	A	41029534	G	A	41029534	3	1	109	1	0	0	0	0	1	0	0	0	15177	1116	39	1	3907	1	SPTBN4	19	41029534	Missense_Mutation	SNP	G	TCGA-EJ-A65M-01A-11D-A29Q-08	314407	41029534	18099449	47	5682											
KCNS1	3787	broad.mit.edu	37	chr20	43727084	43727084	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgcagcaggctcaggaagAagcccgggtgccggtcgaag	10	4	17	10	3	1	1	1	0	0	1	2	3	1	2	2	4	4	3	2	4	3	0			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr20:43727084A>T	ENST00000306117.1	-	4	725	c.329T>A	c.(328-330)tTc>tAc	p.F110Y	KCNS1_ENST00000537075.1_Missense_Mutation_p.F110Y	NM_002251.3	NP_002242.2	Q96KK3	KCNS1_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1	110						voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding			endometrium(1)|lung(3)|ovary(1)|stomach(1)	6		Myeloproliferative disorder(115;0.0122)				GCTCAGGAAGAAGCCCGGGTG	0.692													5	13					0	0	1	0	0	T	43727084	A	T	43727084	3	4	109	1	0	0	0	0	1	0	0	0	8132	246	9	5	1259	5	KCNS1	20	43727084	Missense_Mutation	SNP	A	TCGA-EJ-A65M-01A-11D-A29Q-08		43727084	19298436	48	5683											
PPP1R3D	5509	broad.mit.edu	37	chr20	58514330	58514330	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccgcgccaccgcgccacCgcctcgtgggtactgcgcca	4	4	13	20	7	0	0	0	0	0	0	1	0	0	0	7	2	2	1	7	2	1	1			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr20:58514330C>T	ENST00000370996.3	-	1	1022	c.657G>A	c.(655-657)gcG>gcA	p.A219A	FAM217B_ENST00000358293.3_Intron	NM_006242.3	NP_006233.1	O95685	PPR3D_HUMAN	protein phosphatase 1, regulatory subunit 3D	219	CBM21.				glycogen metabolic process		protein binding|protein serine/threonine phosphatase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|urinary_tract(1)	13	all_lung(29;0.00391)		BRCA - Breast invasive adenocarcinoma(7;5.12e-09)			ACCGCGCCACCGCCTCGTGGG	0.687													11	72					0	0	1	0	0	T	58514330	C	T	58514330	2	4	109	1	0	0	0	0	0	0	0	1	12423	639	23	1		1	PPP1R3D	20	58514330	Silent	SNP	C	TCGA-EJ-A65M-01A-11D-A29Q-08	14787246	58514330	4511190	49	5684											
LIME1	54923	broad.mit.edu	37	chr20	62370021	62370021	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccaccacagacccgctggAccccaagggccagggagcga	11	1	12	17	2	0	1	0	0	0	1	0	4	0	3	6	3	1	1	6	3	1	0			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr20:62370021A>G	ENST00000309546.3	+	6	743	c.656A>G	c.(655-657)gAc>gGc	p.D219G	ZGPAT_ENST00000490623.1_3'UTR|LIME1_ENST00000490824.1_3'UTR	NM_017806.2	NP_060276.2			Lck interacting transmembrane adaptor 1											kidney(1)|large_intestine(1)|liver(1)	3	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					GACCCGCTGGACCCCAAGGGC	0.667													10	45					0	0	1	0	0	G	62370021	A	G	62370021	3	3	109	1	0	0	0	0	1	0	0	0	8840	275	10	3	674	3	LIME1	20	62370021	Missense_Mutation	SNP	A	TCGA-EJ-A65M-01A-11D-A29Q-08	3855691	62370021	655499	50	5685											
ATF4	468	broad.mit.edu	37	chr22	39917543	39917543	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgggggctgaagaaagcctAggtctcttagatgattacct	10	12	12	7	0	1	4	0	2	1	2	2	4	1	4	2	3	2	1	2	3	5	4			TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr22:39917543A>G	ENST00000337304.2	+	1	975	c.93A>G	c.(91-93)ctA>ctG	p.L31L	ATF4_ENST00000396680.1_Silent_p.L31L|ATF4_ENST00000404241.2_Silent_p.L31L	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	31					cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)					AAGAAAGCCTAGGTCTCTTAG	0.572													32	97					0	0	1	0	0	G	39917543	A	G	39917543	2	3	109	1	0	0	0	0	0	0	0	1	1081	407	15	3		3	ATF4	22	39917543	Silent	SNP	A	TCGA-EJ-A65M-01A-11D-A29Q-08		39917543	11387023	51	5686											
CACNA1I	8911	broad.mit.edu	37	chr22	40042647	40042647	+	Frame_Shift_Del	DEL	A	A	-																															ctcggagaccaagcaacgggAgcaccggctgatgctggagc																										TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chr22:40042647delA	ENST00000336649.4	+	10	1223	c.1223delA	c.(1222-1224)ggfs	p.E408fs	CACNA1I_ENST00000407673.1_Frame_Shift_Del_p.E408fs|CACNA1I_ENST00000404898.1_Frame_Shift_Del_p.E408fs|CACNA1I_ENST00000402142.3_Frame_Shift_Del_p.E408fs|CACNA1I_ENST00000401624.1_Frame_Shift_Del_p.E408fs|CACNA1I_ENST00000400164.3_Frame_Shift_Del_p.E408fs			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	408					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	AAGCAACGGGAGCACCGGCTG	0.612													2	4	---	---	---	---						-	40042647	A	-	40042647	7	5	109	1	0	1	0	1	0	0	0	0	2564	304	11	0	1253	0	CACNA1I	22	40042647	Frame_Shift_Del	DEL	A	TCGA-EJ-A65M-01A-11D-A29Q-08	125104	40042647	11261919	52	5687											
KLHL13	90293	broad.mit.edu	37	chrX	117033092	117033092	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gattttattttcgaagacagCgaccccaacatcactctgcc	11	11	6	13	2	2	1	1	0	1	1	3	4	2	1	3	0	3	0	3	0	3	4	rs151170440		TCGA-EJ-A65M-01A-11D-A29Q-08	TCGA-EJ-A65M-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cea7ce0-744e-4962-ac48-f1944c48e13f	600ca654-1eb6-4434-bba1-210e230b973a	g.chrX:117033092C>T	ENST00000371876.1	-	6	4015	c.1594G>A	c.(1594-1596)Gct>Act	p.A532T	KLHL13_ENST00000545703.1_Missense_Mutation_p.A541T|KLHL13_ENST00000371878.1_Missense_Mutation_p.A532T|KLHL13_ENST00000539496.1_Missense_Mutation_p.A586T|KLHL13_ENST00000469946.1_Missense_Mutation_p.A532T|KLHL13_ENST00000540167.1_Missense_Mutation_p.A567T|KLHL13_ENST00000262820.3_Missense_Mutation_p.A583T|KLHL13_ENST00000371882.1_Missense_Mutation_p.A532T|KLHL13_ENST00000541812.1_Missense_Mutation_p.A567T			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	583					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TCGAAGACAGCGACCCCAACA	0.413													4	117					0	0	1	0	0	T	117033092	C	T	117033092	3	4	109	1	0	0	0	0	1	0	0	0	8412	768	27	1	224	1	KLHL13	23	117033092	Missense_Mutation	SNP	C	TCGA-EJ-A65M-01A-11D-A29Q-08		117033092	38237468	53	5688											
FLG2	388698	broad.mit.edu	37	chr1	152324407	152324407	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgtactcactgtggccagatCcccttcttccagttgtcctg	5	14	8	14	0	2	1	1	0	1	1	5	1	5	1	5	1	1	2	5	1	1	4			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr1:152324407C>G	ENST00000388718.5	-	3	5927	c.5855G>C	c.(5854-5856)gGa>gCa	p.G1952A	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1952							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGGCCAGATCCCCTTCTTCC	0.527													4	347					0	0	1	0	0	G	152324407	C	G	152324407	3	3	110	1	0	0	0	0	1	0	0	0	5956	855	30	4	1324	4	FLG2	1	152324407	Missense_Mutation	SNP	C	TCGA-FC-7708-01A-11D-2114-08		152324407	96926214	1	5689											
GPATCH4	54865	broad.mit.edu	37	chr1	156565214	156565214	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctccaagacccccatctTctcctcttcatggtgccacc	6	12	4	19	0	4	1	1	0	3	1	7	1	6	1	7	1	1	0	7	1	1	3			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr1:156565214T>C	ENST00000368232.4	-	8	1036	c.904A>G	c.(904-906)Aag>Gag	p.K302E	GPATCH4_ENST00000438976.2_Missense_Mutation_p.K307E	NM_015590.3|NM_182679.2	NP_056405.2|NP_872620.1	Q5T3I0	GPTC4_HUMAN	G patch domain containing 4	302						intracellular	nucleic acid binding			autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ACCCCCATCTTCTCCTCTTCA	0.537													25	172					0	0	1	0	0	C	156565214	T	C	156565214	3	2	110	1	0	0	0	0	1	0	0	0	6633	1792	62	3	212	3	GPATCH4	1	156565214	Missense_Mutation	SNP	T	TCGA-FC-7708-01A-11D-2114-08	4240807	156565214	92685407	2	5690											
FCGR2A	2212	broad.mit.edu	37	chr1	161479821	161479821	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgcacaggaaacataggCtacacgctgttctcatccaa	13	8	7	13	1	1	0	1	0	1	0	3	1	2	1	1	2	3	4	1	2	4	3			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr1:161479821C>A	ENST00000271450.6	+	4	614	c.576C>A	c.(574-576)ggC>ggA	p.G192G	FCGR2A_ENST00000367972.4_Silent_p.G191G|FCGR2A_ENST00000467525.1_3'UTR	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	192	Ig-like C2-type 2.					integral to membrane|plasma membrane	IgG binding|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GAAACATAGGCTACACGCTGT	0.512													12	89					7.93312e-07	8.96788e-07	1	1	0	A	161479821	C	A	161479821	2	1	110	1	0	0	0	0	0	0	0	1	5814	784	28	4		4	FCGR2A	1	161479821	Silent	SNP	C	TCGA-FC-7708-01A-11D-2114-08	4914607	161479821	87770800	3	5691											
DCAF6	55827	broad.mit.edu	37	chr1	167973820	167973820	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcctacggtcccatcaagTcctgatttggaagtgagtga	9	12	10	10	1	1	3	1	3	0	0	4	4	4	4	3	2	1	0	3	2	3	3			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr1:167973820T>C	ENST00000367840.3	+	10	1261	c.1167T>C	c.(1165-1167)agT>agC	p.S389S	DCAF6_ENST00000367843.3_Silent_p.S389S|DCAF6_ENST00000312263.6_Silent_p.S389S|DCAF6_ENST00000432587.2_Silent_p.S358S	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	389					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						tcccatcaagtcctgatttgg	0.378													2	14					0	0	1	0	0	C	167973820	T	C	167973820	2	2	110	1	0	0	0	0	0	0	0	1	4298	1664	58	3		3	DCAF6	1	167973820	Silent	SNP	T	TCGA-FC-7708-01A-11D-2114-08	6493999	167973820	81276801	4	5692											
TRAF5	7188	broad.mit.edu	37	chr1	211534503	211534503	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcactatggctgtgctgtaaCggtatggaatgactttttgt	8	15	12	6	1	0	1	0	1	0	0	0	2	0	2	0	3	2	5	0	3	4	5	rs113925874		TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr1:211534503C>T	ENST00000336184.2	+	7	755	c.696_splice	c.e7+1	p.T232_splice	TRAF5_ENST00000427925.2_Intron|TRAF5_ENST00000462410.1_3'UTR|TRAF5_ENST00000261464.5_Splice_Site_p.T232_splice|TRAF5_ENST00000367004.3_Splice_Site_p.T232_splice	NM_004619.3	NP_004610.1	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	232					apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis	CD40 receptor complex|centrosome|internal side of plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		TGTGCTGTAACGGTATGGAAT	0.413													10	55					0	0	1	0	0	T	211534503	C	T	211534503	5	4	110	1	0	0	0	0	0	0	1	0	16505	550	19	1	717	1	TRAF5	1	211534503	Splice_Site	SNP	C	TCGA-FC-7708-01A-11D-2114-08	43560683	211534503	37716118	5	5693											
ITPKB	3707	broad.mit.edu	37	chr1	226924561	226924561	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccccaggactttgtcctcCgttcctcgctccgggcgccc	2	9	9	21	4	0	0	0	0	0	0	5	1	4	1	8	2	0	2	8	2	0	2			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr1:226924561C>A	ENST00000429204.1	-	2	926	c.599G>T	c.(598-600)cGg>cTg	p.R200L	ITPKB_ENST00000366784.1_Missense_Mutation_p.R200L|ITPKB_ENST00000272117.3_Missense_Mutation_p.R200L	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	200							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				CTTTGTCCTCCGTTCCTCGCT	0.662													3	71					1	1	1	1	0	A	226924561	C	A	226924561	3	1	110	1	0	0	0	0	1	0	0	0	7962	652	23	4	2269	4	ITPKB	1	226924561	Missense_Mutation	SNP	C	TCGA-FC-7708-01A-11D-2114-08	15390058	226924561	22326060	6	5694											
ZAP70	7535	broad.mit.edu	37	chr2	98351131	98351131	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgacattgaacttggctgCggcaactttggctcagtgcg	7	11	13	10	2	1	2	1	2	0	0	1	2	1	2	0	3	4	4	0	3	2	3			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr2:98351131C>T	ENST00000264972.5	+	9	1253	c.1038C>T	c.(1036-1038)tgC>tgT	p.C346C	ZAP70_ENST00000442208.1_Silent_p.C220C|ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000451498.2_Silent_p.C39C	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	346	Protein kinase.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						AACTTGGCTGCGGCAACTTTG	0.627													35	136					0	0	1	0	0	T	98351131	C	T	98351131	2	4	110	1	0	0	0	0	0	0	0	1	17574	776	27	1		1	ZAP70	2	98351131	Silent	SNP	C	TCGA-FC-7708-01A-11D-2114-08		98351131	144848242	7	5695											
EPB41L5	57669	broad.mit.edu	37	chr2	120918486	120918486	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatgagaataatgtgccccTccccaaagagtctcttgaga	14	9	8	10	0	1	3	0	2	1	3	3	5	2	3	4	0	1	0	4	0	4	2			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr2:120918486T>C	ENST00000263713.5	+	21	2037	c.1823T>C	c.(1822-1824)cTc>cCc	p.L608P	EPB41L5_ENST00000488691.1_3'UTR|EPB41L5_ENST00000443902.2_Missense_Mutation_p.L608P|EPB41L5_ENST00000452780.1_Missense_Mutation_p.L608P	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	608						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						AATGTGCCCCTCCCCAAAGAG	0.393													3	167					0	0	1	0	0	C	120918486	T	C	120918486	3	2	110	1	0	0	0	0	1	0	0	0	5185	1551	54	3	2086	3	EPB41L5	2	120918486	Missense_Mutation	SNP	T	TCGA-FC-7708-01A-11D-2114-08	22567355	120918486	122280887	8	5696											
LYPD6B	130576	broad.mit.edu	37	chr2	150071135	150071135	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acactaatgcagtgtttgccGtaatgcacgctcagagaaca	13	9	9	10	2	1	1	1	0	0	1	1	2	1	1	1	0	4	5	1	0	3	3			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr2:150071135G>A	ENST00000409642.3	+	7	936	c.535G>A	c.(535-537)Gta>Ata	p.V179I	LYPD6B_ENST00000409876.1_Missense_Mutation_p.V155I|LYPD6B_ENST00000280115.7_Missense_Mutation_p.V179I|LYPD6B_ENST00000409029.1_Missense_Mutation_p.V155I|LYPD6B_ENST00000498249.1_3'UTR	NM_177964.3	NP_808879.2	Q8NI32	LPD6B_HUMAN	LY6/PLAUR domain containing 6B	155						anchored to membrane|plasma membrane				endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						AGTGTTTGCCGTAATGCACGC	0.483													4	189					0	0	1	0	0	A	150071135	G	A	150071135	3	1	110	1	0	0	0	0	1	0	0	0	9161	1145	40	1	557	1	LYPD6B	2	150071135	Missense_Mutation	SNP	G	TCGA-FC-7708-01A-11D-2114-08	29152649	150071135	93128238	9	5697											
TMEFF2	23671	broad.mit.edu	37	chr2	192863886	192863886	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taagatttcccatcagaagcGcagaggggattgaagttggt	12	10	13	6	1	1	4	1	1	0	3	2	5	2	5	1	3	1	2	1	3	3	4			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr2:192863886G>A	ENST00000392314.1	-	6	976	c.585C>T	c.(583-585)tgC>tgT	p.C195C	AC098617.1_ENST00000428980.2_RNA|TMEFF2_ENST00000487771.1_5'UTR|TMEFF2_ENST00000272771.5_Silent_p.C195C|AC098617.1_ENST00000424116.2_RNA			Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	195	Kazal-like 2.					extracellular region|integral to membrane				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			CATCAGAAGCGCAGAGGGGAT	0.373													14	72					0	0	1	0	0	A	192863886	G	A	192863886	2	1	110	1	0	0	0	0	0	0	0	1	16074	1079	38	1		1	TMEFF2	2	192863886	Silent	SNP	G	TCGA-FC-7708-01A-11D-2114-08	42792751	192863886	50335487	10	5698											
USP37	57695	broad.mit.edu	37	chr2	219353074	219353074	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aattgaacgaggagggagtgGttttttcctacgaggaaggt	11	11	15	4	2	0	1	0	1	0	0	1	6	1	4	1	5	2	1	1	5	4	5			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr2:219353074G>T	ENST00000258399.3	-	15	1955	c.1543C>A	c.(1543-1545)Cca>Aca	p.P515T	USP37_ENST00000454775.1_Missense_Mutation_p.P515T|USP37_ENST00000415516.1_Missense_Mutation_p.P443T|USP37_ENST00000418019.1_Missense_Mutation_p.P515T	NM_020935.2	NP_065986.2	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	515					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		GGAGGGAGTGGTTTTTTCCTA	0.323													8	85					7.48243e-07	8.64636e-07	1	1	0	T	219353074	G	T	219353074	3	4	110	1	0	0	0	0	1	0	0	0	17128	1261	44	4	1444	4	USP37	2	219353074	Missense_Mutation	SNP	G	TCGA-FC-7708-01A-11D-2114-08	26489188	219353074	23846299	11	5699											
CUL3	8452	broad.mit.edu	37	chr2	225370686	225370686	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacttacccctttgactcccTttttcagcttatcatcaata	9	17	2	13	0	3	1	3	1	0	0	4	1	4	1	3	0	3	1	3	0	5	7			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr2:225370686T>C	ENST00000264414.4	-	8	1531	c.1193A>G	c.(1192-1194)aAg>aGg	p.K398R	CUL3_ENST00000409777.1_Missense_Mutation_p.K374R|CUL3_ENST00000409096.1_Missense_Mutation_p.K374R|CUL3_ENST00000344951.4_Missense_Mutation_p.K332R	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	398					cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TTTGACTCCCTTTTTCAGCTT	0.294													3	63					0	0	1	0	0	C	225370686	T	C	225370686	3	2	110	1	0	0	0	0	1	0	0	0	4079	1609	56	3	1149	3	CUL3	2	225370686	Missense_Mutation	SNP	T	TCGA-FC-7708-01A-11D-2114-08	6017612	225370686	17828687	12	5700											
SCN10A	6336	broad.mit.edu	37	chr3	38766807	38766807	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttgctgcagctgctcctgcTagtgagagagggtcccaact	7	10	12	12	0	0	2	0	1	0	1	2	3	2	2	2	1	6	5	2	1	2	2			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr3:38766807T>C	ENST00000449082.2	-	17	3087		c.e17-2			NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit						sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CTGCTCCTGCTAGTGAGAGAG	0.582													7	28					0	0	1	0	0	C	38766807	T	C	38766807	5	2	110	1	0	0	0	0	0	0	1	0	13966	1536	53	3	2828	3	SCN10A	3	38766807	Splice_Site	SNP	T	TCGA-FC-7708-01A-11D-2114-08		38766807	159255623	13	5701											
DNAJC13	23317	broad.mit.edu	37	chr3	132196839	132196839	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atctaggtatgaatttttcaAtgagctttatcatcgcttct	10	18	6	7	1	4	2	2	2	2	0	5	2	4	2	0	1	1	3	0	1	5	7			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr3:132196839A>G	ENST00000260818.6	+	24	2812	c.2564A>G	c.(2563-2565)aAt>aGt	p.N855S		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	855							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						GAATTTTTCAATGAGCTTTAT	0.343													5	25					0	0	1	0	0	G	132196839	A	G	132196839	3	3	110	1	0	0	0	0	1	0	0	0	4659	101	4	3	2654	3	DNAJC13	3	132196839	Missense_Mutation	SNP	A	TCGA-FC-7708-01A-11D-2114-08	93430032	132196839	65825591	14	5702											
GABRB1	2560	broad.mit.edu	37	chr4	47427856	47427856	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagccgcgaggcctacgggCgcgccctggaccggcacggg	5	2	18	16	7	0	0	0	0	0	0	0	2	0	1	4	5	2	2	4	5	1	1			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr4:47427856C>T	ENST00000295454.3	+	9	1538	c.1246C>T	c.(1246-1248)Cgc>Tgc	p.R416C	GABRB1_ENST00000538619.1_Missense_Mutation_p.R346C	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	416					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(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GGCCTACGGGCGCGCCCTGGA	0.642													8	28					0	0	1	0	0	T	47427856	C	T	47427856	3	4	110	1	0	0	0	0	1	0	0	0	6201	768	27	1	1280	1	GABRB1	4	47427856	Missense_Mutation	SNP	C	TCGA-FC-7708-01A-11D-2114-08		47427856	143726420	15	5703											
LRRC66	339977	broad.mit.edu	37	chr4	52869403	52869403	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagaacctgtaattttttgaGgtccttgaaggcttgtgggg	8	15	13	5	0	0	3	0	2	0	1	1	3	1	3	2	4	1	2	2	4	4	7			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr4:52869403G>A	ENST00000343457.3	-	2	658	c.652C>T	c.(652-654)Ctc>Ttc	p.L218F		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	218						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						AATTTTTTGAGGTCCTTGAAG	0.348													5	52					0	0	1	0	0	A	52869403	G	A	52869403	3	1	110	1	0	0	0	0	1	0	0	0	9063	1000	35	2	2002	2	LRRC66	4	52869403	Missense_Mutation	SNP	G	TCGA-FC-7708-01A-11D-2114-08	5441547	52869403	138284873	16	5704											
OTUD4	54726	broad.mit.edu	37	chr4	146058891	146058891	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctttgcactctgctatcAacagagttggccccagggct	7	11	11	12	0	3	1	1	0	2	1	3	1	3	1	2	3	3	4	2	3	2	3			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr4:146058891A>C	ENST00000454497.2	-	21	2978	c.2841T>G	c.(2839-2841)gtT>gtG	p.V947V	OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Silent_p.V1012V	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	1011							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CTCTGCTATCAACAGAGTTGG	0.388													3	166					0	0	1	0	0	C	146058891	A	C	146058891	2	2	110	1	0	0	0	0	0	0	0	1	11361	117	5	5		5	OTUD4	4	146058891	Silent	SNP	A	TCGA-FC-7708-01A-11D-2114-08	93189488	146058891	45095385	17	5705											
FGF10	2255	broad.mit.edu	37	chr5	44388715	44388717	+	In_Frame_Del	DEL	AGC	AGC	-																															caccaagaacagcaacaaaaAgcagcagcagcagcagccgg																										TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr5:44388715_44388717delAGC	ENST00000264664.4	-	1	182_184	c.68_70delGCT	c.(67-72)ttt>t	p.CF23del		NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	23					actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					AGCAACAAAAAGCAGCAGCAGCA	0.537													7	102	---	---	---	---						-	44388717	AGC	-	44388715	7	5	110	1	0	1	0	1	0	0	0	0	5872	72	3	0	568	0	FGF10	5	44388715	In_Frame_Del	DEL	AGC	TCGA-FC-7708-01A-11D-2114-08		44388715	136526545	18	5706											
CMYA5	202333	broad.mit.edu	37	chr5	79058905	79058905	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caccctccacccctgtgatcCgcgctgaggactgtactgtg	6	9	10	16	2	0	2	0	2	0	0	2	3	2	3	5	1	1	2	5	1	1	1			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr5:79058905C>A	ENST00000446378.2	+	9	11459	c.11428C>A	c.(11428-11430)Cgc>Agc	p.R3810S	CMYA5_ENST00000505466.1_3'UTR	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3810	Fibronectin type-III 2.			APSTPVIRAEDCTVCWNTAT -> GKEMDAKGALEDNAQFF TDS (in Ref. 2; CAD91143).		perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CCCTGTGATCCGCGCTGAGGA	0.587													3	82					1	1	1	1	0	A	79058905	C	A	79058905	3	1	110	1	0	0	0	0	1	0	0	0	3613	652	23	4	11462	4	CMYA5	5	79058905	Missense_Mutation	SNP	C	TCGA-FC-7708-01A-11D-2114-08	34670190	79058905	101856355	19	5707											
HIST1H2BG	8339	broad.mit.edu	37	chr6	26216686	26216706	+	In_Frame_Del	DEL	GATGCCCATGGCCTTGGATGA	GATGCCCATGGCCTTGGATGA	-																															tcgttaacgaaggaattcatGatgcccatggccttggatga																								rs140919872	byFrequency	TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr6:26216686_26216706delGATGCCCATGGCCTTGGATGA	ENST00000244601.3	-	1	166_186	c.166_186delTCATCCAAGGCCATGGGCATC	c.(166-186)del	p.SSKAMGI56del		NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bg	56					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				AGGAATTCATGATGCCCATGGCCTTGGATGAGATGCCAGTA	0.538													12	228	---	---	---	---						-	26216706	GATGCCCATGGCCTTGGATGA	-	26216686	7	5	110	1	0	1	0	1	0	0	0	0	7187	1280	45	0	198	0	HIST1H2BG	6	26216686	In_Frame_Del	DEL	GATGCCCATGGCCTTGGATGA	TCGA-FC-7708-01A-11D-2114-08		26216686	144898381	20	5708											
SNRPC	6631	broad.mit.edu	37	chr6	34738121	34738121	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatatggggggccctcccAtgatgccaatgatgggccct	7	8	12	14	0	0	2	0	2	0	0	1	2	1	2	5	4	1	0	5	4	2	1			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr6:34738121A>T	ENST00000374017.3	+	4	654	c.367A>T	c.(367-369)Atg>Ttg	p.M123L	SNRPC_ENST00000244520.5_Missense_Mutation_p.M102L|SNRPC_ENST00000374018.1_Missense_Mutation_p.M61L|SNRPC_ENST00000474635.1_3'UTR			P09234	RU1C_HUMAN	small nuclear ribonucleoprotein polypeptide C	102					spliceosomal snRNP assembly	Cajal body|U1 snRNP	protein homodimerization activity|single-stranded RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)	6						GGGCCCTCCCATGATGCCAAT	0.502													16	90					0	0	1	0	0	T	34738121	A	T	34738121	3	4	110	1	0	0	0	0	1	0	0	0	14917	217	8	5	322	5	SNRPC	6	34738121	Missense_Mutation	SNP	A	TCGA-FC-7708-01A-11D-2114-08	8521435	34738121	136376946	21	5709											
MRPL2	51069	broad.mit.edu	37	chr6	43023654	43023654	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctgcagctcggatatattgGgcaccccggcctggctcact	6	9	11	15	2	1	0	1	0	0	0	2	1	1	1	4	4	2	4	4	4	2	3			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr6:43023654G>A	ENST00000388752.3	-	5	1036	c.612C>T	c.(610-612)gcC>gcT	p.A204A	MRPL2_ENST00000230413.5_Silent_p.A204A|MRPL2_ENST00000489623.1_Intron	NM_015950.3	NP_057034.2	Q5T653	RM02_HUMAN	mitochondrial ribosomal protein L2	204					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(2)	9		Ovarian(999;0.0014)	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)	BRCA - Breast invasive adenocarcinoma(397;0.0026)		GGATATATTGGGCACCCCGGC	0.557													5	50					0	0	1	0	0	A	43023654	G	A	43023654	2	1	110	1	0	0	0	0	0	0	0	1	9834	1219	43	2		2	MRPL2	6	43023654	Silent	SNP	G	TCGA-FC-7708-01A-11D-2114-08	8285533	43023654	128091413	22	5710											
DST	667	broad.mit.edu	37	chr6	56470845	56470845	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gctacaactgtgcattttatCcagaagaatcattgtattaa	14	14	6	7	0	1	2	1	0	0	2	2	2	2	2	1	0	3	3	1	0	7	6			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr6:56470845C>G	ENST00000370754.5	-	39	8481	c.8482G>C	c.(8482-8484)Gat>Cat	p.D2828H	DST_ENST00000361203.3_Missense_Mutation_p.D2650H|DST_ENST00000312431.6_Missense_Mutation_p.D2650H|DST_ENST00000370788.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000446842.2_Missense_Mutation_p.D2324H|DST_ENST00000370769.4_Missense_Mutation_p.D2650H			Q03001	DYST_HUMAN	dystonin	2650					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGCATTTTATCCAGAAGAATC	0.328													7	64					0	0	1	0	0	G	56470845	C	G	56470845	3	3	110	1	0	0	0	0	1	0	0	0	4809	870	30	4		4	DST	6	56470845	Missense_Mutation	SNP	C	TCGA-FC-7708-01A-11D-2114-08	13447191	56470845	114644222	23	5711											
EPHA7	2045	broad.mit.edu	37	chr6	94120325	94120325	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcatcctgggggcgttttcCgcttcttcctctgcactgct	2	15	10	14	2	2	0	0	0	2	0	5	0	5	0	3	2	3	5	3	2	0	4	rs148725762		TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr6:94120325C>T	ENST00000369303.4	-	3	910	c.726G>A	c.(724-726)gcG>gcA	p.A242A	EPHA7_ENST00000369297.1_Silent_p.A242A	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	242	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GGGCGTTTTCCGCTTCTTCCT	0.473													6	45					0	0	1	0	0	T	94120325	C	T	94120325	2	4	110	1	0	0	0	0	0	0	0	1	5200	639	23	1		1	EPHA7	6	94120325	Silent	SNP	C	TCGA-FC-7708-01A-11D-2114-08	37649480	94120325	76994742	24	5712											
CFTR	1080	broad.mit.edu	37	chr7	117243692	117243692	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttttacatttacgtgggaGtagccgacactttgcttgct	7	16	10	8	2	0	0	0	0	0	0	0	2	0	1	1	1	5	4	1	1	3	7			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr7:117243692G>A	ENST00000003084.6	+	17	2896	c.2764G>A	c.(2764-2766)Gta>Ata	p.V922I	CFTR_ENST00000454343.1_Missense_Mutation_p.V861I	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	922	ABC transmembrane type-1 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TTACGTGGGAGTAGCCGACAC	0.393									Cystic Fibrosis				3	109					0	0	1	0	0	A	117243692	G	A	117243692	3	1	110	1	0	0	0	0	1	0	0	0	3316	1029	36	2	2830	2	CFTR	7	117243692	Missense_Mutation	SNP	G	TCGA-FC-7708-01A-11D-2114-08		117243692	41894971	25	5713											
CHD7	55636	broad.mit.edu	37	chr8	61777895	61777895	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgctgtgctgcccctgatGctgccaggaatggcgggcct	4	9	15	13	1	0	1	0	1	0	0	0	2	0	2	4	3	5	4	4	3	1	0			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr8:61777895G>A	ENST00000423902.2	+	38	8876	c.8397G>A	c.(8395-8397)atG>atA	p.M2799I	CHD7_ENST00000524602.1_Missense_Mutation_p.M750I	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2799					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TGCCCCTGATGCTGCCAGGAA	0.622													3	14					0	0	1	0	0	A	61777895	G	A	61777895	3	1	110	1	0	0	0	0	1	0	0	0	3352	1319	46	2	8543	2	CHD7	8	61777895	Missense_Mutation	SNP	G	TCGA-FC-7708-01A-11D-2114-08		61777895	84586127	26	5714											
SNX31	169166	broad.mit.edu	37	chr8	101612649	101612649	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtgtgggtttggcccatccTttttcaatgtcctgtattgc	4	18	10	9	0	1	0	1	0	0	0	3	0	3	0	3	2	1	2	3	2	2	5			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr8:101612649T>C	ENST00000311812.2	-	9	852	c.702A>G	c.(700-702)aaA>aaG	p.K234K	SNX31_ENST00000428383.2_Silent_p.K135K	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	234					cell communication|protein transport		phosphatidylinositol binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			TGGCCCATCCTTTTTCAATGT	0.358													3	129					0	0	1	0	0	C	101612649	T	C	101612649	2	2	110	1	0	0	0	0	0	0	0	1	14955	1606	56	3		3	SNX31	8	101612649	Silent	SNP	T	TCGA-FC-7708-01A-11D-2114-08	39834754	101612649	44751373	27	5715											
FAM122A	116224	broad.mit.edu	37	chr9	71395167	71395167	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggtggcagcggcggcggCgggggcctcaggaggtctaa	5	4	22	10	5	2	0	1	0	1	0	2	1	2	1	1	10	1	1	1	10	1	1			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr9:71395167C>G	ENST00000394264.3	+	1	204	c.87C>G	c.(85-87)ggC>ggG	p.G29G	PIP5K1B_ENST00000541509.1_Intron|PIP5K1B_ENST00000265382.3_Intron	NM_138333.3	NP_612206.3	Q96E09	F122A_HUMAN	family with sequence similarity 122A	29	Poly-Gly.									endometrium(1)|lung(2)	3						GCGGCGGCGGCGGGGGCCTCA	0.721													2	11					0	0	1	0	0	G	71395167	C	G	71395167	2	3	110	1	0	0	0	0	0	0	0	1	5450	755	27	4		4	FAM122A	9	71395167	Silent	SNP	C	TCGA-FC-7708-01A-11D-2114-08		71395167	69818264	28	5716											
CDH23	64072	broad.mit.edu	37	chr10	73574941	73574941	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccgaggccactgccttcgAgcgcaacgcccgcacagaat	9	5	11	16	5	0	1	0	0	0	1	1	3	0	1	4	1	4	2	4	1	2	1			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr10:73574941A>C	ENST00000224721.6	+	69	9991	c.9986A>C	c.(9985-9987)gAg>gCg	p.E3329A	CDH23_ENST00000398788.3_Missense_Mutation_p.E1084A|CDH23_ENST00000475158.1_3'UTR	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	3324					calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						ACTGCCTTCGAGCGCAACGCC	0.642													4	16					0	0	1	0	0	C	73574941	A	C	73574941	3	2	110	1	0	0	0	0	1	0	0	0	3130	304	11	5	10665	5	CDH23	10	73574941	Missense_Mutation	SNP	A	TCGA-FC-7708-01A-11D-2114-08		73574941	61959806	29	5717											
KRT85	3891	broad.mit.edu	37	chr12	52756045	52756045	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttagccccacctgtgttcctCgccctccagcaggcgcctgt	4	10	9	18	2	0	0	0	0	0	0	3	0	2	0	7	1	2	2	7	1	1	2			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr12:52756045C>T	ENST00000257901.3	-	7	1363	c.1288G>A	c.(1288-1290)Gag>Aag	p.E430K	KRT85_ENST00000544265.1_Missense_Mutation_p.E218K	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	430	Coil 2.|Rod.				epidermis development	keratin filament	protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CTGTGTTCCTCGCCCTCCAGC	0.582													19	70					0	0	1	0	0	T	52756045	C	T	52756045	3	4	110	1	0	0	0	0	1	0	0	0	8542	893	31	1	247	1	KRT85	12	52756045	Missense_Mutation	SNP	C	TCGA-FC-7708-01A-11D-2114-08		52756045	81095850	30	5718											
DTX3	196403	broad.mit.edu	37	chr12	58002362	58002362	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acacgggtggcctacctcccGgactgccctgagggcaacaa	9	5	12	15	2	0	1	0	1	0	0	1	2	1	2	4	4	3	1	4	4	3	1			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr12:58002362G>A	ENST00000548198.1	+	4	2314	c.810G>A	c.(808-810)ccG>ccA	p.P270P	DTX3_ENST00000551632.1_Silent_p.P273P|DTX3_ENST00000337737.3_Silent_p.P270P|DTX3_ENST00000548804.1_Silent_p.P270P			Q8N9I9	DTX3_HUMAN	deltex homolog 3 (Drosophila)	270					Notch signaling pathway	cytoplasm	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12	Melanoma(17;0.122)					CCTACCTCCCGGACTGCCCTG	0.617													3	56					0	0	1	0	0	A	58002362	G	A	58002362	2	1	110	1	0	0	0	0	0	0	0	1	4821	1103	39	1		1	DTX3	12	58002362	Silent	SNP	G	TCGA-FC-7708-01A-11D-2114-08	5246317	58002362	75849533	31	5719											
NUP107	57122	broad.mit.edu	37	chr12	69085781	69085781	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgacagtaactgggcagctGcattttcatcacagcgttcc	10	11	9	11	1	2	1	2	1	0	0	3	1	3	1	1	1	4	5	1	1	1	4			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr12:69085781G>T	ENST00000229179.4	+	5	669	c.337G>T	c.(337-339)Gca>Tca	p.A113S	NUP107_ENST00000539906.1_Missense_Mutation_p.A84S|NUP107_ENST00000378905.2_Intron	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	113					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			CTGGGCAGCTGCATTTTCATC	0.393													6	42					0.00198382	0.00219486	1	1	0	T	69085781	G	T	69085781	3	4	110	1	0	0	0	0	1	0	0	0	10801	1319	46	4	355	4	NUP107	12	69085781	Missense_Mutation	SNP	G	TCGA-FC-7708-01A-11D-2114-08	11083419	69085781	64766114	32	5720											
PCID2	55795	broad.mit.edu	37	chr13	113854766	113854766	+	Frame_Shift_Del	DEL	G	G	-																															gtcgtgggtttgcaacatgaGgatgtttaaaagacaccaac																										TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr13:113854766delG	ENST00000375457.2	-	2	691	c.95delC	c.(94-96)ctfs	p.P32fs	PCID2_ENST00000375459.1_Frame_Shift_Del_p.P32fs|PCID2_ENST00000246505.5_Frame_Shift_Del_p.P34fs|PCID2_ENST00000337344.4_Frame_Shift_Del_p.P34fs|PCID2_ENST00000375479.2_Frame_Shift_Del_p.P34fs|PCID2_ENST00000351317.3_Frame_Shift_Del_p.P34fs|PCID2_ENST00000375477.1_Frame_Shift_Del_p.P34fs	NM_001258213.1	NP_001245142.1	Q5JVF3	PCID2_HUMAN	PCI domain containing 2	34					negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			TGCAACATGAGGATGTTTAAA	0.443													35	93	---	---	---	---						-	113854766	G	-	113854766	7	5	110	1	0	1	0	1	0	0	0	0	11626	1000	35	0	1150	0	PCID2	13	113854766	Frame_Shift_Del	DEL	G	TCGA-FC-7708-01A-11D-2114-08		113854766	1315112	33	5721											
SLC7A8	23428	broad.mit.edu	37	chr14	23652104	23652104	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttttcggtgttgtttcggTgcctggctccttcttccatc	1	19	9	12	2	2	0	0	0	2	0	7	0	4	0	3	3	1	3	3	3	0	6			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr14:23652104T>C	ENST00000316902.7	-	1	745	c.20A>G	c.(19-21)cAc>cGc	p.H7R	SLC7A8_ENST00000469263.1_Missense_Mutation_p.H7R	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 8	7					blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity			autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	GTTGTTTCGGTGCCTGGCTCC	0.537													6	186					0	0	1	0	0	C	23652104	T	C	23652104	3	2	110	1	0	0	0	0	1	0	0	0	14759	1696	59	3	1631	3	SLC7A8	14	23652104	Missense_Mutation	SNP	T	TCGA-FC-7708-01A-11D-2114-08		23652104	83697436	34	5722											
RNF31	55072	broad.mit.edu	37	chr14	24619808	24619809	+	Splice_Site	INS	-	-	G																															ttctctctgccttcccagcaINSgggggatgctttgctggcct																										TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr14:24619808_24619809insG	ENST00000324103.6	+	8	1519_1520	c.1197_splice	c.e8-1	p.R400_splice	RNF31_ENST00000559275.1_Splice_Site_p.R249_splice|RNF31_ENST00000382687.3_Splice_Site_p.R249_splice	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	400	Polyubiquitin-binding.				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		CCTTCCCAGCAGGGGGATGCTT	0.52													51	382	---	---	---	---						G	24619809	-	G	24619808	8	5	110	1	0	1	1	0	0	0	1	0	13539	202	7	0	1229	0	RNF31	14	24619808	Splice_Site	INS	-	TCGA-FC-7708-01A-11D-2114-08	967704	24619808	82729732	35	5723											
NID2	22795	broad.mit.edu	37	chr14	52520915	52520915	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtagcatggctgaaggaacGtcccaggggaacagaagagt	13	6	15	7	1	0	3	0	1	0	2	1	5	1	5	1	4	3	3	1	4	5	1	rs147980330		TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr14:52520915G>A	ENST00000216286.5	-	4	891	c.892C>T	c.(892-894)Cgt>Tgt	p.R298C	NID2_ENST00000541773.1_Missense_Mutation_p.R245C	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	298						basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CTGAAGGAACGTCCCAGGGGA	0.517													6	26					0	0	1	0	0	A	52520915	G	A	52520915	3	1	110	1	0	0	0	0	1	0	0	0	10462	1145	40	1	3311	1	NID2	14	52520915	Missense_Mutation	SNP	G	TCGA-FC-7708-01A-11D-2114-08	27901107	52520915	54828625	36	5724											
CASC5	57082	broad.mit.edu	37	chr15	40915989	40915989	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatactgttttcattgactGtcaagccacagagaaaatac	14	11	6	10	0	2	2	2	1	0	1	2	3	2	2	2	0	3	1	2	0	5	5			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr15:40915989G>A	ENST00000346991.5	+	11	3995	c.3605G>A	c.(3604-3606)tGt>tAt	p.C1202Y	CASC5_ENST00000399668.2_Missense_Mutation_p.C1176Y			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1202					acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		TTCATTGACTGTCAAGCCACA	0.373													9	40					0	0	1	0	0	A	40915989	G	A	40915989	3	1	110	1	0	0	0	0	1	0	0	0	2681	1377	48	2	3643	2	CASC5	15	40915989	Missense_Mutation	SNP	G	TCGA-FC-7708-01A-11D-2114-08		40915989	61615403	37	5725											
VPS13C	54832	broad.mit.edu	37	chr15	62320582	62320582	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgatgtccttgtaaacaaaGttctccaagccatatatgaa	14	13	6	8	0	1	2	0	2	1	0	3	2	2	2	3	0	2	2	3	0	7	6			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr15:62320582G>A	ENST00000261517.5	-	6	496	c.423C>T	c.(421-423)aaC>aaT	p.N141N	VPS13C_ENST00000249837.3_Intron|VPS13C_ENST00000395898.3_Intron|VPS13C_ENST00000395896.4_Silent_p.N141N	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	141					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TGTAAACAAAGTTCTCCAAGC	0.388													13	105					0	0	1	0	0	A	62320582	G	A	62320582	2	1	110	1	0	0	0	0	0	0	0	1	17251	1020	36	2		2	VPS13C	15	62320582	Silent	SNP	G	TCGA-FC-7708-01A-11D-2114-08	21404593	62320582	40210810	38	5726											
SLC16A13	201232	broad.mit.edu	37	chr17	6941915	6941915	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttgttgctatttctgaccTcgtggggcgtgtggtctccg	3	15	14	9	3	2	1	0	1	2	0	4	1	2	1	2	3	1	3	2	3	1	4			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr17:6941915T>A	ENST00000308027.6	+	3	1096	c.788T>A	c.(787-789)cTc>cAc	p.L263H		NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN	solute carrier family 16, member 13	263						integral to membrane|plasma membrane	symporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						ATTTCTGACCTCGTGGGGCGT	0.587													12	123					0	0	1	0	0	A	6941915	T	A	6941915	3	1	110	1	0	0	0	0	1	0	0	0	14461	1551	54	5	798	5	SLC16A13	17	6941915	Missense_Mutation	SNP	T	TCGA-FC-7708-01A-11D-2114-08		6941915	74253295	39	5727											
ZNF99	7652	broad.mit.edu	37	chr19	22939400	22939400	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtgtgaggattgcttaaaaGctttgccacattcttcacat	10	14	9	8	0	2	1	1	1	1	0	2	2	2	2	1	2	3	2	1	2	2	5			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr19:22939400G>C	ENST00000397104.3	-	7	2770	c.2771C>G	c.(2770-2772)gCt>gGt	p.A924G						zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TTGCTTAAAAGCTTTGCCACA	0.368													3	51					0	0	1	0	0	C	22939400	G	C	22939400	3	2	110	1	0	0	0	0	1	0	0	0	18246	971	34	4	345	4	ZNF99	19	22939400	Missense_Mutation	SNP	G	TCGA-FC-7708-01A-11D-2114-08		22939400	36189583	40	5728											
ZNF146	7705	broad.mit.edu	37	chr19	36728180	36728180	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggaaagctttcagccagAagtcacaccacattagacac	14	7	9	11	0	2	2	2	0	0	2	2	3	2	3	2	1	2	1	2	1	3	2			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr19:36728180A>T	ENST00000456324.1	+	3	2287	c.838A>T	c.(838-840)Aag>Tag	p.K280*	ZNF565_ENST00000355114.5_Intron|ZNF146_ENST00000443387.2_Nonsense_Mutation_p.K280*	NM_001099638.1|NM_001099639.1	NP_001093108.1|NP_001093109.1	Q15072	OZF_HUMAN	zinc finger protein 146	280	Interaction with TERF2IP.				regulation of transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|heparin binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11	Esophageal squamous(110;0.162)					TTTCAGCCAGAAGTCACACCA	0.413													5	44					0	0	1	0	0	T	36728180	A	T	36728180	4	4	110	1	0	0	0	0	0	1	0	0	17791	247	9	5	840	5	ZNF146	19	36728180	Nonsense_Mutation	SNP	A	TCGA-FC-7708-01A-11D-2114-08	13788780	36728180	22400803	41	5729											
ZNF578	147660	broad.mit.edu	37	chr19	53014710	53014710	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagttacaagtcatcccttaGatgccatcgtagacttcata	12	12	6	11	1	2	2	2	0	0	2	4	2	3	2	2	0	2	2	2	0	5	5			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chr19:53014710G>C	ENST00000421239.2	+	6	1320	c.1076G>C	c.(1075-1077)aGa>aCa	p.R359T	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	134					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		TCATCCCTTAGATGCCATCGT	0.388													3	126					0	0	1	0	0	C	53014710	G	C	53014710	3	2	110	1	0	0	0	0	1	0	0	0	18067	942	33	4	1086	4	ZNF578	19	53014710	Missense_Mutation	SNP	G	TCGA-FC-7708-01A-11D-2114-08	16286530	53014710	6114273	42	5730											
FRMD7	90167	broad.mit.edu	37	chrX	131212858	131212858	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgggatccgcctctggtttgGaatgctccagctcagttgca	6	12	12	11	1	2	0	1	0	1	0	4	2	4	2	3	3	3	5	3	3	1	2			TCGA-FC-7708-01A-11D-2114-08	TCGA-FC-7708-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c977d3c1-60f0-4987-b74d-d523a17f3784	00d07ccd-92c1-4e36-9ccc-4dae23baa878	g.chrX:131212858G>T	ENST00000298542.4	-	12	1362	c.1187C>A	c.(1186-1188)tCc>tAc	p.S396Y	FRMD7_ENST00000370879.1_Missense_Mutation_p.S276Y|FRMD7_ENST00000464296.1_Missense_Mutation_p.S381Y	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	396					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					CTCTGGTTTGGAatgctccag	0.478													40	100					5.20006e-24	6.14553e-24	1	1	0	T	131212858	G	T	131212858	3	4	110	1	0	0	0	0	1	0	0	0	6090	1174	41	4	961	4	FRMD7	23	131212858	Missense_Mutation	SNP	G	TCGA-FC-7708-01A-11D-2114-08		131212858	24057702	43	5731											
CA6	765	broad.mit.edu	37	chr1	9031007	9031007	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggacccagcccctgaacCacagagtggtggaatccaac	12	4	11	14	0	0	2	0	1	0	1	1	4	1	4	5	3	3	1	5	3	3	0			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr1:9031007C>T	ENST00000377443.2	+	7	815	c.811C>T	c.(811-813)Cac>Tac	p.H271Y	CA6_ENST00000377442.2_Missense_Mutation_p.H211Y|CA6_ENST00000377436.3_Missense_Mutation_p.H271Y|CA6_ENST00000476083.1_3'UTR	NM_001215.3	NP_001206.2	P23280	CAH6_HUMAN	carbonic anhydrase VI	271					one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)		GCCCCTGAACCACAGAGTGGT	0.532													16	84					0	0	1	0	0	T	9031007	C	T	9031007	3	4	111	1	0	0	0	0	1	0	0	0	2539	594	21	2	837	2	CA6	1	9031007	Missense_Mutation	SNP	C	TCGA-FC-7961-01A-11D-A29Q-08		9031007	240219614	1	5732											
NOTCH2	4853	broad.mit.edu	37	chr1	120480514	120480514	+	Frame_Shift_Del	DEL	G	G	-																															gctatgtcacaagagacattGggcacgtcacaataggcacc																										TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr1:120480514delG	ENST00000256646.2	-	20	3522	c.3303delC	c.(3301-3303)ccfs	p.P1101fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1101	EGF-like 29.				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAGAGACATTGGGCACGTCAC	0.498			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome				15	63	---	---	---	---						-	120480514	G	-	120480514	7	5	111	1	0	1	0	1	0	0	0	0	10595	1335	47	0	4172	0	NOTCH2	1	120480514	Frame_Shift_Del	DEL	G	TCGA-FC-7961-01A-11D-A29Q-08	111449507	120480514	128770107	2	5733											
SMCP	4184	broad.mit.edu	37	chr1	152857072	152857072	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaccaaaacacaatcactgCtgccagccaaaacccccatg	15	4	4	18	0	1	0	1	0	0	0	1	0	1	0	6	0	5	1	6	0	5	0			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr1:152857072C>T	ENST00000368765.3	+	2	324	c.174C>T	c.(172-174)tgC>tgT	p.C58C		NM_030663.2	NP_109588.2	P49901	MCSP_HUMAN	sperm mitochondria-associated cysteine-rich protein	58	7 X 7 (OR 8) AA approximate repeats.				penetration of zona pellucida|sperm motility	mitochondrial membrane				breast(1)|cervix(1)|endometrium(1)|lung(4)|urinary_tract(1)	8	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACAATCACTGCTGCCAGCCAA	0.537													18	214					0	0	1	0	0	T	152857072	C	T	152857072	2	4	111	1	0	0	0	0	0	0	0	1	14843	805	28	2		2	SMCP	1	152857072	Silent	SNP	C	TCGA-FC-7961-01A-11D-A29Q-08	32376558	152857072	96393549	3	5734											
INTS3	65123	broad.mit.edu	37	chr1	153732836	153732836	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaagccccacccagccatCactgccacactcctggactt	10	7	6	18	0	1	1	1	1	0	0	2	2	2	2	6	1	3	0	6	1	1	1			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr1:153732836C>A	ENST00000456435.1	+	12	1855	c.669C>A	c.(667-669)atC>atA	p.I223I	INTS3_ENST00000435409.2_Silent_p.I429I|INTS3_ENST00000512605.1_Silent_p.I223I|INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000318967.2_Silent_p.I429I			Q68E01	INT3_HUMAN	integrator complex subunit 3	430					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ACCCAGCCATCACTGCCACAC	0.522													5	58					1	1	1	1	0	A	153732836	C	A	153732836	2	1	111	1	0	0	0	0	0	0	0	1	7823	816	29	4		4	INTS3	1	153732836	Silent	SNP	C	TCGA-FC-7961-01A-11D-A29Q-08	875764	153732836	95517785	4	5735											
SPTA1	6708	broad.mit.edu	37	chr1	158605702	158605702	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggccttctgtatcccactcaCcgggccttggccaactcttt	5	12	8	16	1	3	0	1	0	2	0	4	0	4	0	5	3	1	1	5	3	2	4			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr1:158605702C>A	ENST00000368148.3	-	38	5613		c.e38+1		SPTA1_ENST00000368147.3_Splice_Site	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ATCCCACTCACCGGGCCTTGG	0.537													5	124					0.00198382	0.00216417	1	1	0	A	158605702	C	A	158605702	5	1	111	1	0	0	0	0	0	0	1	0	15172	521	18	4	1886	4	SPTA1	1	158605702	Splice_Site	SNP	C	TCGA-FC-7961-01A-11D-A29Q-08	4872866	158605702	90644919	5	5736											
ZNF281	23528	broad.mit.edu	37	chr1	200376763	200376763	+	Missense_Mutation	SNP	G	G	C																															tgaagacaaactgacaaattGgaaaccgtgtccaagagtaa																										TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr1:200376763G>C	ENST00000294740.2	-	2	2195	c.2071C>G	c.(2071-2073)Caa>Gaa	p.Q691E	ZNF281_ENST00000367352.3_Missense_Mutation_p.Q655E|ZNF281_ENST00000367353.1_Missense_Mutation_p.Q691E	NM_012482.3	NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	691					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						CTGACAAATTGGAAACCGTGT	0.388													6	169					0	0	1	0	0	C	200376763	G	C	200376763	3	2	111	1	0	0	0	0	1	0	0	0	17876	1357	47	4	620	4	ZNF281	1	200376763	Missense_Mutation	SNP	G	TCGA-FC-7961-01A-11D-A29Q-08	41771061	200376763	48873858	6	5737	31	2									
ZNF281	23528	broad.mit.edu	37	chr1	200376772	200376772	+	Missense_Mutation	SNP	G	G	C																															actgacaaattggaaaccgtGtccaagagtaaaacttgcat																										TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr1:200376772G>C	ENST00000294740.2	-	2	2186	c.2062C>G	c.(2062-2064)Cac>Gac	p.H688D	ZNF281_ENST00000367352.3_Missense_Mutation_p.H652D|ZNF281_ENST00000367353.1_Missense_Mutation_p.H688D	NM_012482.3	NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	688					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						TGGAAACCGTGTCCAAGAGTA	0.393													7	177					0	0	1	0	0	C	200376772	G	C	200376772	3	2	111	1	0	0	0	0	1	0	0	0	17876	1377	48	4	629	4	ZNF281	1	200376772	Missense_Mutation	SNP	G	TCGA-FC-7961-01A-11D-A29Q-08	9	200376772	48873849	7	5738	31	2									
CSRP1	1465	broad.mit.edu	37	chr1	201453913	201453913	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcccgaagtttttagcataAcatcctgcagagagaggaga	13	8	12	8	1	0	3	0	0	0	3	1	6	1	3	2	2	3	3	2	2	3	4			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr1:201453913A>G	ENST00000367306.1	-	7	873	c.510T>C	c.(508-510)tgT>tgC	p.C170C	CSRP1_ENST00000533432.1_Silent_p.C170C|CSRP1_ENST00000531916.1_Intron|CSRP1_ENST00000526723.1_Silent_p.C137C|CSRP1_ENST00000532460.1_Silent_p.C170C|CSRP1_ENST00000340006.2_Silent_p.C170C			P21291	CSRP1_HUMAN	cysteine and glycine-rich protein 1	170	LIM zinc-binding 2.					nucleus	zinc ion binding			large_intestine(3)|lung(2)|ovary(1)	6						TTTTAGCATAACATCCTGCAG	0.592													6	28					0	0	1	0	0	G	201453913	A	G	201453913	2	3	111	1	0	0	0	0	0	0	0	1	3991	41	2	3		3	CSRP1	1	201453913	Silent	SNP	A	TCGA-FC-7961-01A-11D-A29Q-08	1077141	201453913	47796708	8	5739											
SPTBN1	0	broad.mit.edu	37	chr2	54895540	54895540	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttccgccatctcctctgataAacacgaggtgtctgccagca	9	10	8	14	2	3	1	0	1	3	0	5	2	4	1	4	1	3	1	4	1	2	2			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr2:54895540A>G	ENST00000356805.4	+	36	7210	c.6929A>G	c.(6928-6930)aAa>aGa	p.K2310R		NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	2310					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			TCCTCTGATAAACACGAGGTG	0.592													27	66					0	0	1	0	0	G	54895540	A	G	54895540	3	3	111	1	0	0	0	0	1	0	0	0	15175	14	1	3	7267	3	SPTBN1	2	54895540	Missense_Mutation	SNP	A	TCGA-FC-7961-01A-11D-A29Q-08		54895540	188303833	9	5740											
MTIF2	4528	broad.mit.edu	37	chr2	55489556	55489556	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ataactgagatttccatggtCcttcttcctattaaaaaaat	14	15	4	8	0	1	1	0	1	1	1	4	2	4	1	3	1	1	0	3	1	6	6			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr2:55489556C>T	ENST00000394600.3	-	6	963	c.227G>A	c.(226-228)gGa>gAa	p.G76E	MTIF2_ENST00000403721.1_Missense_Mutation_p.G76E|MTIF2_ENST00000263629.4_Missense_Mutation_p.G76E|MTIF2_ENST00000446660.1_5'UTR	NM_001005369.1	NP_001005369.1	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	76					regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						TTTCCATGGTCCTTCTTCCTA	0.318													5	103					0	0	1	0	0	T	55489556	C	T	55489556	3	4	111	1	0	0	0	0	1	0	0	0	9982	855	30	2	2004	2	MTIF2	2	55489556	Missense_Mutation	SNP	C	TCGA-FC-7961-01A-11D-A29Q-08	594016	55489556	187709817	10	5741											
SCN2A	6326	broad.mit.edu	37	chr2	166246006	166246006	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtctcttatgagcccattaCgaccacgttgaaacgcaaac	13	9	7	12	3	1	2	0	2	1	0	2	3	1	2	2	0	4	2	2	0	4	3			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr2:166246006C>T	ENST00000375437.2	+	27	5980	c.5690C>T	c.(5689-5691)aCg>aTg	p.T1897M	SCN2A_ENST00000357398.3_Missense_Mutation_p.T1897M|SCN2A_ENST00000283256.6_Missense_Mutation_p.T1897M|SCN2A_ENST00000375427.2_Missense_Mutation_p.T1897M	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1897					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GAGCCCATTACGACCACGTTG	0.453													10	45					0	0	1	0	0	T	166246006	C	T	166246006	3	4	111	1	0	0	0	0	1	0	0	0	13970	536	19	1	5888	1	SCN2A	2	166246006	Missense_Mutation	SNP	C	TCGA-FC-7961-01A-11D-A29Q-08	110756450	166246006	76953367	11	5742											
BARD1	580	broad.mit.edu	37	chr2	215645757	215645757	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctctatttgctcagccaatgGtaaagagacttcagttaaac	13	12	7	9	0	3	1	2	0	1	1	3	2	3	1	1	1	3	3	1	1	6	5			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr2:215645757G>A	ENST00000260947.4	-	4	975	c.841C>T	c.(841-843)Cca>Tca	p.P281S	BARD1_ENST00000471787.1_5'UTR|BARD1_ENST00000449967.2_Missense_Mutation_p.P137S	NM_000465.2	NP_000456.2	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	281					cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TCAGCCAATGGTAAAGAGACT	0.383									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				20	48					0	0	1	0	0	A	215645757	G	A	215645757	3	1	111	1	0	0	0	0	1	0	0	0	1310	1261	44	2	1524	2	BARD1	2	215645757	Missense_Mutation	SNP	G	TCGA-FC-7961-01A-11D-A29Q-08	49399751	215645757	27553616	12	5743											
MTERFD2	130916	broad.mit.edu	37	chr2	242039186	242039186	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taactcctcaatgacccctcCattggaggctgtagtcagtt	9	12	8	12	0	2	1	2	1	0	0	4	2	4	2	4	2	1	3	4	2	3	4			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr2:242039186C>A	ENST00000391980.2	-	2	203	c.145G>T	c.(145-147)Gga>Tga	p.G49*	MTERFD2_ENST00000406593.1_Intron|MTERFD2_ENST00000407095.3_Nonsense_Mutation_p.G49*|MTERFD2_ENST00000495694.1_Nonsense_Mutation_p.G49*	NM_182501.3	NP_872307.2	Q7Z6M4	MTER2_HUMAN	MTERF domain containing 2	49										endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		ATGACCCCTCCATTGGAGGCT	0.512													9	94					1.12685e-05	1.24342e-05	1	1	0	A	242039186	C	A	242039186	4	1	111	1	0	0	0	0	0	1	0	0	9968	603	21	4	1012	4	MTERFD2	2	242039186	Nonsense_Mutation	SNP	C	TCGA-FC-7961-01A-11D-A29Q-08	26393429	242039186	1160187	13	5744											
CAV3	859	broad.mit.edu	37	chr3	8787407	8787407	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctgccacatctgggcggtgGtgccatgcattaagagctac	8	10	12	11	1	2	1	0	0	2	1	2	1	2	1	2	3	5	2	2	3	2	2			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr3:8787407G>C	ENST00000343849.2	+	2	387	c.310G>C	c.(310-312)Gtg>Ctg	p.V104L	CAV3_ENST00000472766.1_Intron|CAV3_ENST00000397368.2_Missense_Mutation_p.V104L	NM_001234.4|NM_033337.2	NP_001225.1|NP_203123.1	P56539	CAV3_HUMAN	caveolin 3	104	Required for interaction with DAG1.				cell growth|elevation of cytosolic calcium ion concentration|muscle organ development|negative regulation of cardiac muscle hypertrophy|negative regulation of cell size|negative regulation of MAP kinase activity|negative regulation of sarcomere organization|positive regulation of microtubule polymerization|regulation of skeletal muscle contraction|regulation of ventricular cardiomyocyte membrane repolarization|T-tubule organization	caveola|dystrophin-associated glycoprotein complex|Golgi membrane|neuromuscular junction|T-tubule	protein C-terminus binding|protein complex binding|protein complex scaffold|sodium channel regulator activity			breast(1)|kidney(2)|large_intestine(4)|lung(3)|prostate(1)	11						CTGGGCGGTGGTGCCATGCAT	0.607													7	54					0	0	1	0	0	C	8787407	G	C	8787407	3	2	111	1	0	0	0	0	1	0	0	0	2713	1261	44	4	316	4	CAV3	3	8787407	Missense_Mutation	SNP	G	TCGA-FC-7961-01A-11D-A29Q-08		8787407	189235023	14	5745											
BRPF1	7862	broad.mit.edu	37	chr3	9783062	9783063	+	Frame_Shift_Ins	INS	-	-	G																															cagcggctccggcatgacttINSggagcgagctcggctgctcg																										TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr3:9783062_9783063insG	ENST00000383829.2	+	5	2197_2198	c.1793_1794insG	c.(1792-1794)tgafs	p.*598fs	BRPF1_ENST00000302054.3_Frame_Shift_Ins_p.*598fs|BRPF1_ENST00000424362.1_Frame_Shift_Ins_p.*598fs|BRPF1_ENST00000433861.2_Frame_Shift_Ins_p.*598fs|BRPF1_ENST00000457855.1_Frame_Shift_Ins_p.*598fs	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	598	Interaction with MEAF6 and ING5.|Required for RUNX1 and RUNX2 transcriptional activation.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					CGGCATGACTTGGAGCGAGCTC	0.51													52	99	---	---	---	---						G	9783063	-	G	9783062	7	5	111	1	0	1	1	0	0	0	0	0	1522	1821	63	0	1807	0	BRPF1	3	9783062	Frame_Shift_Ins	INS	-	TCGA-FC-7961-01A-11D-A29Q-08	995655	9783062	188239368	15	5746											
NKTR	4820	broad.mit.edu	37	chr3	42684054	42684054	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagaggccgaaccagaagcCggagcagttcctaccggagt	11	4	14	12	3	0	2	0	0	0	2	1	5	1	4	5	3	4	3	5	3	3	2			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr3:42684054C>T	ENST00000232978.8	+	14	4296	c.4108C>T	c.(4108-4110)Cgg>Tgg	p.R1370W	RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	1370					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		AACCAGAAGCCGGAGCAGTTC	0.438													5	84					0	0	1	0	0	T	42684054	C	T	42684054	3	4	111	1	0	0	0	0	1	0	0	0	10495	643	23	1	4158	1	NKTR	3	42684054	Missense_Mutation	SNP	C	TCGA-FC-7961-01A-11D-A29Q-08	32900992	42684054	155338376	16	5747											
ARHGAP31	57514	broad.mit.edu	37	chr3	119134256	119134256	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctggagggtttactcccaGgacccccaggacctggacat	8	7	11	15	0	0	0	0	0	0	0	1	4	1	4	5	5	1	1	5	5	1	2			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr3:119134256G>C	ENST00000264245.4	+	12	4012	c.3480G>C	c.(3478-3480)caG>caC	p.Q1160H		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1160					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						TTTACTCCCAGGACCCCCAGG	0.532													30	40					0	0	1	0	0	C	119134256	G	C	119134256	3	2	111	1	0	0	0	0	1	0	0	0	877	991	35	4	3526	4	ARHGAP31	3	119134256	Missense_Mutation	SNP	G	TCGA-FC-7961-01A-11D-A29Q-08	76450202	119134256	78888174	17	5748											
CLCN3	0	broad.mit.edu	37	chr4	170625290	170625290	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaggtcggggctgattgcAttacacctggcctttatgcc	6	12	13	10	1	0	2	0	2	0	0	1	2	0	2	3	4	3	2	3	4	2	4			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr4:170625290A>T	ENST00000513761.1	+	10	2264	c.1705A>T	c.(1705-1707)Att>Ttt	p.I569F	CLCN3_ENST00000347613.4_Missense_Mutation_p.I569F|CLCN3_ENST00000504131.2_Missense_Mutation_p.I552F|CLCN3_ENST00000360642.3_Missense_Mutation_p.I542F	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	569					endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		GGCTGATTGCATTACACCTGG	0.517													4	52					0	0	1	0	0	T	170625290	A	T	170625290	3	4	111	1	0	0	0	0	1	0	0	0	3487	217	8	5	1739	5	CLCN3	4	170625290	Missense_Mutation	SNP	A	TCGA-FC-7961-01A-11D-A29Q-08		170625290	20528986	18	5749											
ANKRD55	79722	broad.mit.edu	37	chr5	55422829	55422829	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atatcgctgaagcccgctgcCgctgcgatatgtacacatgt	9	10	10	12	4	0	1	0	1	0	0	1	2	0	1	2	0	4	4	2	0	4	3			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr5:55422829C>T	ENST00000341048.4	-	8	868	c.717G>A	c.(715-717)gcG>gcA	p.A239A	ANKRD55_ENST00000504958.2_Silent_p.A196A|ANKRD55_ENST00000505970.2_Intron	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	238										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				AGCCCGCTGCCGCTGCGATAT	0.493													4	135					0	0	1	0	0	T	55422829	C	T	55422829	2	4	111	1	0	0	0	0	0	0	0	1	675	639	23	1		1	ANKRD55	5	55422829	Silent	SNP	C	TCGA-FC-7961-01A-11D-A29Q-08		55422829	125492431	19	5750											
PCDHA12	0	broad.mit.edu	37	chr5	140257020	140257020	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggtgctggtgaaggaccacGgtgagcccgcgctgacgtcc	6	7	16	12	4	0	3	0	3	0	0	1	4	1	4	3	4	2	2	3	4	1	0			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr5:140257020G>A	ENST00000398631.2	+	1	1963	c.1963G>A	c.(1963-1965)Ggt>Agt	p.G655S	PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAGGACCACGGTGAGCCCGC	0.687													4	84					0	0	1	0	0	A	140257020	G	A	140257020	3	1	111	1	0	0	0	0	1	0	0	0	11569	1116	39	1	1965	1	PCDHA12	5	140257020	Missense_Mutation	SNP	G	TCGA-FC-7961-01A-11D-A29Q-08	84834191	140257020	40658240	20	5751											
PCDHB6	0	broad.mit.edu	37	chr5	140531641	140531641	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccagaacgcctggctgtcGtaccagctgctcaaggccac	8	6	12	15	2	1	1	1	0	0	1	2	1	1	1	4	3	4	4	4	3	3	1			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr5:140531641G>A	ENST00000231136.1	+	1	1803	c.1803G>A	c.(1801-1803)tcG>tcA	p.S601S	PCDHB6_ENST00000543635.1_Silent_p.S465S	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		601	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGGCTGTCGTACCAGCTGC	0.716													23	77					0	0	1	0	0	A	140531641	G	A	140531641	2	1	111	1	0	0	0	0	0	0	0	1	11593	1132	40	1		1	PCDHB6	5	140531641	Silent	SNP	G	TCGA-FC-7961-01A-11D-A29Q-08	274621	140531641	40383619	21	5752											
PCDHGA9	0	broad.mit.edu	37	chr5	140784549	140784549	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcctggctgacctgggcaGtcttcagatccctgcagacc	7	9	10	15	0	2	3	1	1	1	2	4	3	4	3	4	2	1	3	4	2	0	1			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr5:140784549G>T	ENST00000573521.1	+	1	2030	c.2030G>T	c.(2029-2031)aGt>aTt	p.S677I	PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACCTGGGCAGTCTTCAGATC	0.592													21	127					1.42536e-11	1.68931e-11	1	1	0	T	140784549	G	T	140784549	3	4	111	1	0	0	0	0	1	0	0	0	11608	1029	36	4	2032	4	PCDHGA9	5	140784549	Missense_Mutation	SNP	G	TCGA-FC-7961-01A-11D-A29Q-08	252908	140784549	40130711	22	5753											
SLC26A2	1836	broad.mit.edu	37	chr5	149359955	149359955	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccttcactattcttacaTctcaggccaagtatcttctt	8	16	3	14	0	5	0	2	0	4	0	7	0	6	0	3	1	1	1	3	1	4	7			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr5:149359955T>A	ENST00000286298.4	+	3	1067	c.799T>A	c.(799-801)Tct>Act	p.S267T		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	267						integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TATTCTTACATCTCAGGCCAA	0.473													6	141					0	0	1	0	0	A	149359955	T	A	149359955	3	1	111	1	0	0	0	0	1	0	0	0	14572	1435	50	5	805	5	SLC26A2	5	149359955	Missense_Mutation	SNP	T	TCGA-FC-7961-01A-11D-A29Q-08	8575406	149359955	31555305	23	5754											
TMED9	54732	broad.mit.edu	37	chr5	177019240	177019240	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtggagctgggcgtgctgCtcgtccggccccggcccgga	2	7	17	15	5	0	0	0	0	0	0	2	2	1	2	4	5	3	3	4	5	0	0			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr5:177019240C>A	ENST00000332598.6	+	1	82	c.25C>A	c.(25-27)Ctc>Atc	p.L9I		NM_017510.4	NP_059980.2	Q9BVK6	TMED9_HUMAN	transmembrane emp24 protein transport domain containing 9	9					transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane				endometrium(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(2)	10	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGCGTGCTGCTCGTCCGGCC	0.736													4	33					2.56e-06	2.89129e-06	1	1	0	A	177019240	C	A	177019240	3	1	111	1	0	0	0	0	1	0	0	0	16072	797	28	4	27	4	TMED9	5	177019240	Missense_Mutation	SNP	C	TCGA-FC-7961-01A-11D-A29Q-08	27659285	177019240	3896020	24	5755											
MOG	4340	broad.mit.edu	37	chr6	29627139	29627139	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agacaccctatccgggctctGgtcggggatgaagtggaatt	9	9	14	9	2	1	2	0	1	1	1	3	4	2	4	2	5	0	1	2	5	3	2			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr6:29627139G>C	ENST00000376894.4	+	2	250	c.132G>C	c.(130-132)ctG>ctC	p.L44L	MOG_ENST00000431798.2_Silent_p.L44L|MOG_ENST00000376891.4_Silent_p.L44L|MOG_ENST00000396701.2_Silent_p.L44L|MOG_ENST00000416766.2_Silent_p.L44L|MOG_ENST00000396704.3_Silent_p.L44L|MOG_ENST00000376888.2_Intron|MOG_ENST00000376902.3_Silent_p.L44L|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000376898.3_Silent_p.L44L|MOG_ENST00000490427.1_Intron|MOG_ENST00000533330.2_Silent_p.L44L|MOG_ENST00000494692.1_Silent_p.L44L|MOG_ENST00000376917.3_Silent_p.L44L|MOG_ENST00000483013.1_Intron			Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	44	Ig-like V-type.				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						TCCGGGCTCTGGTCGGGGATG	0.552													63	208					0	0	1	0	0	C	29627139	G	C	29627139	2	2	111	1	0	0	0	0	0	0	0	1	9742	1335	47	4		4	MOG	6	29627139	Silent	SNP	G	TCGA-FC-7961-01A-11D-A29Q-08		29627139	141487928	25	5756											
ITPR3	3710	broad.mit.edu	37	chr6	33656197	33656197	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacgagatggagtggcagcGcaagctccgcagtgaggacc	11	4	15	11	3	0	2	0	1	0	1	1	5	1	4	2	3	3	4	2	3	2	0			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr6:33656197G>A	ENST00000374316.5	+	49	7617	c.6557G>A	c.(6556-6558)cGc>cAc	p.R2186H	ITPR3_ENST00000605930.1_Missense_Mutation_p.R2186H			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2186					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						GAGTGGCAGCGCAAGCTCCGC	0.622													3	32					0	0	1	0	0	A	33656197	G	A	33656197	3	1	111	1	0	0	0	0	1	0	0	0	7966	1087	38	1	6747	1	ITPR3	6	33656197	Missense_Mutation	SNP	G	TCGA-FC-7961-01A-11D-A29Q-08	4029058	33656197	137458870	26	5757											
BTBD9	114781	broad.mit.edu	37	chr6	38545497	38545497	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgaagtatgagtaagaccTgtgaatcaaaaggaaaaagc	20	7	10	4	0	1	4	1	3	0	1	1	5	1	5	1	1	1	2	1	1	9	2			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr6:38545497T>A	ENST00000481247.1	-	6	1186		c.e6-2		BTBD9_ENST00000419706.2_Splice_Site|BTBD9_ENST00000408958.1_Splice_Site|BTBD9_ENST00000403056.1_Splice_Site|BTBD9_ENST00000314100.6_Splice_Site	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9						cell adhesion			p.?(2)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						GAGTAAGACCTGTGAATCAAA	0.308													3	45					0	0	1	0	0	A	38545497	T	A	38545497	5	1	111	1	0	0	0	0	0	0	1	0	1551	1594	55	5	920	5	BTBD9	6	38545497	Splice_Site	SNP	T	TCGA-FC-7961-01A-11D-A29Q-08	4889300	38545497	132569570	27	5758											
UPP1	7378	broad.mit.edu	37	chr7	48146608	48146608	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggtgcaggagctgttgcTgtgttctgcagagctgagcg	5	11	17	8	1	1	2	0	1	1	1	1	3	1	3	0	2	6	8	0	2	0	2			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr7:48146608T>C	ENST00000331803.4	+	8	1198	c.575T>C	c.(574-576)cTg>cCg	p.L192P	UPP1_ENST00000341253.4_Missense_Mutation_p.L192P|UPP1_ENST00000482015.1_3'UTR|UPP1_ENST00000429491.2_Missense_Mutation_p.L55P|UPP1_ENST00000395564.4_Missense_Mutation_p.L192P			Q16831	UPP1_HUMAN	uridine phosphorylase 1	192					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage	cytosol	uridine phosphorylase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18						GAGCTGTTGCTGTGTTCTGCA	0.542													22	81					0	0	1	0	0	C	48146608	T	C	48146608	3	2	111	1	0	0	0	0	1	0	0	0	17072	1580	55	3	593	3	UPP1	7	48146608	Missense_Mutation	SNP	T	TCGA-FC-7961-01A-11D-A29Q-08		48146608	110992055	28	5759											
MUC17	140453	broad.mit.edu	37	chr7	100676607	100676607	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aataacaagtatgtctgtcaGcaccacactggtggccagtt	12	10	9	10	0	2	0	1	0	1	0	2	0	2	0	2	2	2	3	2	2	4	3			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr7:100676607G>A	ENST00000306151.4	+	3	1974	c.1910G>A	c.(1909-1911)aGc>aAc	p.S637N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	637	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ATGTCTGTCAGCACCACACTG	0.468													6	494					0	0	1	0	0	A	100676607	G	A	100676607	3	1	111	1	0	0	0	0	1	0	0	0	10022	971	34	2	1920	2	MUC17	7	100676607	Missense_Mutation	SNP	G	TCGA-FC-7961-01A-11D-A29Q-08	52529999	100676607	58462056	29	5760											
MUC17	140453	broad.mit.edu	37	chr7	100681979	100681979	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttgacaccagcacacctGtcaccacttctactgaagcc	10	9	6	16	0	2	2	1	2	1	0	2	2	2	2	4	0	3	2	4	0	2	3			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr7:100681979G>A	ENST00000306151.4	+	3	7346	c.7282G>A	c.(7282-7284)Gtc>Atc	p.V2428I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2428	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGCACACCTGTCACCACTTC	0.517													6	606					0	0	1	0	0	A	100681979	G	A	100681979	3	1	111	1	0	0	0	0	1	0	0	0	10022	1377	48	2	7292	2	MUC17	7	100681979	Missense_Mutation	SNP	G	TCGA-FC-7961-01A-11D-A29Q-08	5372	100681979	58456684	30	5761											
NOM1	64434	broad.mit.edu	37	chr7	156745202	156745202	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgaaaagtacatcccacCtcatgtgaggcaagctgagg	12	8	12	9	0	1	3	1	3	0	0	2	3	2	3	2	3	2	3	2	3	4	1			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr7:156745202C>A	ENST00000275820.3	+	2	1037	c.1022C>A	c.(1021-1023)cCt>cAt	p.P341H		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	341					RNA metabolic process	nucleolus	protein binding			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		TACATCCCACCTCATGTGAGG	0.388													3	56					0.115264	0.121597	1	1	0	A	156745202	C	A	156745202	3	1	111	1	0	0	0	0	1	0	0	0	10577	681	24	4	1028	4	NOM1	7	156745202	Missense_Mutation	SNP	C	TCGA-FC-7961-01A-11D-A29Q-08	56063223	156745202	2393461	31	5762											
CDCA2	157313	broad.mit.edu	37	chr8	25341516	25341516	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttgaagcacctgcctttctAaatatgaggaagaggaagag	14	10	11	6	0	1	4	0	2	1	2	1	6	1	6	2	2	2	1	2	2	6	4			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr8:25341516A>C	ENST00000330560.3	+	10	1632	c.1155A>C	c.(1153-1155)ctA>ctC	p.L385L	CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Silent_p.L370L	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	385					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		CTGCCTTTCTAAATATGAGGA	0.338													13	35					0	0	1	0	0	C	25341516	A	C	25341516	2	2	111	1	0	0	0	0	0	0	0	1	3108	349	13	5		5	CDCA2	8	25341516	Silent	SNP	A	TCGA-FC-7961-01A-11D-A29Q-08		25341516	121022506	32	5763											
CDCA2	157313	broad.mit.edu	37	chr8	25341608	25341608	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcaaatactccattgcgtaAaggaggaacacctgtttgta	14	10	9	8	1	0	0	0	0	0	0	1	2	1	2	2	2	4	4	2	2	6	5			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr8:25341608A>T	ENST00000330560.3	+	10	1724	c.1247A>T	c.(1246-1248)aAa>aTa	p.K416I	CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Missense_Mutation_p.K401I	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	416					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		CCATTGCGTAAAGGAGGAACA	0.438													23	67					0	0	1	0	0	T	25341608	A	T	25341608	3	4	111	1	0	0	0	0	1	0	0	0	3108	14	1	5	1281	5	CDCA2	8	25341608	Missense_Mutation	SNP	A	TCGA-FC-7961-01A-11D-A29Q-08	92	25341608	121022414	33	5764											
SQLE	6713	broad.mit.edu	37	chr8	126030321	126030321	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgttcttcttttgggagacGcatataatatgaggcatcca	10	14	10	7	1	2	2	0	1	2	1	3	3	3	2	1	2	0	3	1	2	3	7			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr8:126030321G>A	ENST00000265896.5	+	8	2123	c.1225G>A	c.(1225-1227)Gca>Aca	p.A409T	SQLE_ENST00000523430.1_Missense_Mutation_p.A314T	NM_003129.3	NP_003120.2	Q14534	ERG1_HUMAN	squalene epoxidase	409					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome	flavin adenine dinucleotide binding|squalene monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	TTTGGGAGACGCATATAATAT	0.353													14	30					0	0	1	0	0	A	126030321	G	A	126030321	3	1	111	1	0	0	0	0	1	0	0	0	15184	1087	38	1	1154	1	SQLE	8	126030321	Missense_Mutation	SNP	G	TCGA-FC-7961-01A-11D-A29Q-08	100688713	126030321	20333701	34	5765											
BAI1	575	broad.mit.edu	37	chr8	143558527	143558527	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgtgtgctccagcacctgCggcgagggctggcagacccg	6	5	16	14	4	0	1	0	0	0	1	1	2	1	1	3	3	4	4	3	3	0	0			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr8:143558527C>T	ENST00000517894.1	+	5	2004	c.1110C>T	c.(1108-1110)tgC>tgT	p.C370C	BAI1_ENST00000323289.5_Silent_p.C370C			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	370	TSP type-1 2.				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CCAGCACCTGCGGCGAGGGCT	0.697													5	26					0	0	1	0	0	T	143558527	C	T	143558527	2	4	111	1	0	0	0	0	0	0	0	1	1296	776	27	1		1	BAI1	8	143558527	Silent	SNP	C	TCGA-FC-7961-01A-11D-A29Q-08	17528206	143558527	2805495	35	5766											
INSL6	11172	broad.mit.edu	37	chr9	5185354	5185354	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgggccggggaagcggtttgCgggctttcgaactggtatgg	5	9	19	8	5	0	0	0	0	0	0	1	2	0	1	1	7	3	3	1	7	3	3	rs146054352	by1000genomes	TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr9:5185354C>T	ENST00000381641.3	-	1	314	c.249G>A	c.(247-249)ccG>ccA	p.P83P		NM_007179.2	NP_009110.2	Q9Y581	INSL6_HUMAN	insulin-like 6	83						extracellular region	hormone activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2)	15	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)		AAGCGGTTTGCGGGCTTTCGA	0.527													16	189					0	0	1	0	0	T	5185354	C	T	5185354	2	4	111	1	0	0	0	0	0	0	0	1	7814	755	27	1		1	INSL6	9	5185354	Silent	SNP	C	TCGA-FC-7961-01A-11D-A29Q-08		5185354	136028077	36	5767											
NOL6	65083	broad.mit.edu	37	chr9	33465277	33465277	+	Frame_Shift_Del	DEL	C	C	-																															ccaggctctcatcagcgaaaCcctcaccaagaagctgggca																										TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr9:33465277delC	ENST00000379471.2	-	20	2696	c.2609delG	c.(2608-2610)gtfs	p.G870fs	NOL6_ENST00000464829.1_Intron|NOL6_ENST00000455041.2_Frame_Shift_Del_p.G818fs			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	870					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		ATCAGCGAAACCCTCACCAAG	0.627													2	4	---	---	---	---						-	33465277	C	-	33465277	7	5	111	1	0	1	0	1	0	0	0	0	10572	507	18	0	859	0	NOL6	9	33465277	Frame_Shift_Del	DEL	C	TCGA-FC-7961-01A-11D-A29Q-08	28279923	33465277	107748154	37	5768											
TLN1	7094	broad.mit.edu	37	chr9	35725562	35725562	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accgggggagtcagactcacGaggaccagctggggcctctg	8	5	16	12	2	3	1	2	0	1	1	3	4	3	3	3	5	1	1	3	5	0	0			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr9:35725562G>A	ENST00000314888.9	-	2	483	c.130_splice	c.e2+1	p.P44_splice	TLN1_ENST00000540444.1_Splice_Site_p.P44_splice	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	44					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TCAGACTCACGAGGACCAGCT	0.587													49	100					0	0	1	0	0	A	35725562	G	A	35725562	5	1	111	1	0	0	0	0	0	0	1	0	16007	1072	37	1	7719	1	TLN1	9	35725562	Splice_Site	SNP	G	TCGA-FC-7961-01A-11D-A29Q-08	2260285	35725562	105487869	38	5769											
PCSK5	5125	broad.mit.edu	37	chr9	78790136	78790136	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaatggaatggaatggaaTgaaatggaatggaatgaaat	19	8	13	1	0	0	3	0	2	0	1	0	8	0	8	0	5	0	0	0	5	8	0	rs62556589		TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr9:78790136T>C	ENST00000376767.3	+	14	2503	c.1991T>C	c.(1990-1992)aTg>aCg	p.M664T	PCSK5_ENST00000545128.1_Intron|PCSK5_ENST00000376752.4_Intron			Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	0	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						tggaatggaatgaaatggaat	0.423													4	23					0	0	1	0	0	C	78790136	T	C	78790136	3	2	111	1	0	0	0	0	1	0	0	0	11650	1479	51	3		3	PCSK5	9	78790136	Missense_Mutation	SNP	T	TCGA-FC-7961-01A-11D-A29Q-08	43064574	78790136	62423295	39	5770											
RNF20	56254	broad.mit.edu	37	chr9	104312897	104312897	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccctcctaaggtggaattgCggagtgcagtggagcaagtc	9	8	15	9	1	0	0	0	0	0	0	2	3	1	3	2	4	3	2	2	4	3	2			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr9:104312897C>T	ENST00000389120.3	+	10	1192	c.1102C>T	c.(1102-1104)Cgg>Tgg	p.R368W		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	368					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	p.R368W(1)		breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		GGTGGAATTGCGGAGTGCAGT	0.468													4	152					0	0	1	0	0	T	104312897	C	T	104312897	3	4	111	1	0	0	0	0	1	0	0	0	13525	759	27	1	1136	1	RNF20	9	104312897	Missense_Mutation	SNP	C	TCGA-FC-7961-01A-11D-A29Q-08	25522761	104312897	36900534	40	5771											
MED27	9442	broad.mit.edu	37	chr9	134889831	134889831	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgatttaaaaggccagaTgctagtcctgcatggtactg	10	12	11	8	0	0	2	0	1	0	1	1	2	1	2	2	2	4	4	2	2	4	4			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr9:134889831T>C	ENST00000292035.5	-	3	435	c.372A>G	c.(370-372)gcA>gcG	p.A124A	MED27_ENST00000357028.2_Silent_p.A86A|MED27_ENST00000372184.3_Silent_p.A124A	NM_004269.3	NP_004260.2	Q6P2C8	MED27_HUMAN	mediator complex subunit 27	124					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleolus|transcription factor complex	protein binding|transcription coactivator activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	18		Myeloproliferative disorder(178;0.206)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193)		AAAGGCCAGATGCTAGTCCTG	0.423													6	36					0	0	1	0	0	C	134889831	T	C	134889831	2	2	111	1	0	0	0	0	0	0	0	1	9495	1451	51	3		3	MED27	9	134889831	Silent	SNP	T	TCGA-FC-7961-01A-11D-A29Q-08	30576934	134889831	6323600	41	5772											
PTEN	5728	broad.mit.edu	37	chr10	89717695	89717696	+	Frame_Shift_Ins	INS	-	-	T																															gggaagacaagttcatgtacINStttgagttccctcagccgtt																										TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr10:89717695_89717696insT	ENST00000371953.3	+	7	2077_2078	c.720_721insT	c.(718-723)tattgafs	p.*241fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	241	C2 tensin-type.		F -> S (in MCEPHAS).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.F241L(1)|p.G165_*404del(1)|p.?(1)|p.F241fs*1(1)|p.Y240*(1)|p.R234fs*9(1)|p.F241fs*17(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGTTCATGTACTTTGAGTTCCC	0.411		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			28	58	---	---	---	---						T	89717696	-	T	89717695	7	5	111	1	0	1	1	0	0	0	0	0	12787	576	20	0	746	0	PTEN	10	89717695	Frame_Shift_Ins	INS	-	TCGA-FC-7961-01A-11D-A29Q-08		89717695	45817052	42	5773											
ITPRIP	85450	broad.mit.edu	37	chr10	106075334	106075334	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttccaggaactcccgggtaCgggctgcatcggccgtggcc	5	7	14	15	4	0	0	0	0	0	0	3	1	2	1	4	5	3	3	4	5	2	2	rs145318706		TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr10:106075334C>T	ENST00000278071.2	-	3	928	c.476G>A	c.(475-477)cGt>cAt	p.R159H	ITPRIP_ENST00000337478.1_Missense_Mutation_p.R159H|ITPRIP_ENST00000358187.2_Missense_Mutation_p.R159H	NM_033397.2	NP_203755.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	159						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						CTCCCGGGTACGGGCTGCATC	0.657													5	69					0	0	1	0	0	T	106075334	C	T	106075334	3	4	111	1	0	0	0	0	1	0	0	0	7967	536	19	1	1171	1	ITPRIP	10	106075334	Missense_Mutation	SNP	C	TCGA-FC-7961-01A-11D-A29Q-08	16357639	106075334	29459413	43	5774											
FAM196A	642938	broad.mit.edu	37	chr10	128973613	128973613	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accacttccgtatgaggcacGattcgttggcattcttcacc	8	12	8	13	3	2	1	1	1	1	0	4	2	3	1	3	2	0	4	3	2	1	6			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr10:128973613G>A	ENST00000522781.1	-	4	1602	c.1047C>T	c.(1045-1047)atC>atT	p.I349I	DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Silent_p.I349I	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	349								p.I349I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TATGAGGCACGATTCGTTGGC	0.552													4	224					0	0	1	0	0	A	128973613	G	A	128973613	2	1	111	1	0	0	0	0	0	0	0	1	5560	1048	37	1		1	FAM196A	10	128973613	Silent	SNP	G	TCGA-FC-7961-01A-11D-A29Q-08	22898279	128973613	6561134	44	5775											
ADAM8	101	broad.mit.edu	37	chr10	135085058	135085058	+	Frame_Shift_Del	DEL	C	C	-																															ggggccgcagtcgcactgctCcccacgctccacaaacaggt																										TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr10:135085058delC	ENST00000445355.3	-	12	1308	c.1258delG	c.(1258-1260)agfs	p.E420fs	ADAM8_ENST00000485491.2_Frame_Shift_Del_p.E381fs|ADAM8_ENST00000415217.3_Frame_Shift_Del_p.E420fs	NM_001109.4	NP_001100.3	B4DVM6	B4DVM6_HUMAN	ADAM metallopeptidase domain 8	381					integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity			central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		TCGCACTGCTCCCCACGCTCC	0.682													2	4	---	---	---	---						-	135085058	C	-	135085058	7	5	111	1	0	1	0	1	0	0	0	0	251	864	30	0	1182	0	ADAM8	10	135085058	Frame_Shift_Del	DEL	C	TCGA-FC-7961-01A-11D-A29Q-08	6111445	135085058	449689	45	5776											
SYT9	143425	broad.mit.edu	37	chr11	7437324	7437324	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccctgtgctatcttccaacgGctggcaggctgaccattacc	7	10	9	15	1	1	1	0	1	1	0	2	1	2	1	4	3	3	4	4	3	3	3			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr11:7437324G>T	ENST00000318881.6	+	4	1333	c.1096G>T	c.(1096-1098)Gct>Tct	p.A366S		NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	366	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		TCTTCCAACGGCTGGCAGGCT	0.443													24	62					2.39556e-15	2.87468e-15	1	1	0	T	7437324	G	T	7437324	3	4	111	1	0	0	0	0	1	0	0	0	15538	1203	42	4	1110	4	SYT9	11	7437324	Missense_Mutation	SNP	G	TCGA-FC-7961-01A-11D-A29Q-08		7437324	127569192	46	5777											
SLC22A11	55867	broad.mit.edu	37	chr11	64326610	64326610	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcaccctcctcttgcagtggGacctggtgtgcagctcccag	5	9	12	15	0	1	0	0	0	1	0	3	1	3	1	4	2	3	4	4	2	0	1			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr11:64326610G>A	ENST00000301891.4	+	2	771	c.397G>A	c.(397-399)Gac>Aac	p.D133N	SLC22A11_ENST00000377585.3_Missense_Mutation_p.D133N|SLC22A11_ENST00000490834.1_Intron|SLC22A11_ENST00000377581.3_Missense_Mutation_p.D133N	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	133					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	CTTGCAGTGGGACCTGGTGTG	0.637													31	78					0	0	1	0	0	A	64326610	G	A	64326610	3	1	111	1	0	0	0	0	1	0	0	0	14497	1174	41	2	403	2	SLC22A11	11	64326610	Missense_Mutation	SNP	G	TCGA-FC-7961-01A-11D-A29Q-08	56889286	64326610	70679906	47	5778											
GDPD5	81544	broad.mit.edu	37	chr11	75146556	75146556	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagacatgtcttcagctaaCgcccactccgctctatgagg	10	9	8	14	2	3	2	1	1	2	1	4	2	4	2	2	1	2	2	2	1	2	3			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr11:75146556C>T	ENST00000526177.1	-	13	3278	c.1400G>A	c.(1399-1401)cGt>cAt	p.R467H	GDPD5_ENST00000529721.1_Missense_Mutation_p.R605H|GDPD5_ENST00000336898.3_Missense_Mutation_p.R605H|GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000533805.1_Missense_Mutation_p.R360H|GDPD5_ENST00000376282.3_Missense_Mutation_p.R486H|GDPD5_ENST00000533784.1_Missense_Mutation_p.R486H			Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	605	GDPD.				glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						CTTCAGCTAACGCCCACTCCG	0.592													17	66					0	0	1	0	0	T	75146556	C	T	75146556	3	4	111	1	0	0	0	0	1	0	0	0	6369	536	19	1	7	1	GDPD5	11	75146556	Missense_Mutation	SNP	C	TCGA-FC-7961-01A-11D-A29Q-08	10819946	75146556	59859960	48	5779											
GUCY1A2	2977	broad.mit.edu	37	chr11	106810483	106810483	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggttccctgtggaaggttCttcatgatattagtattttc	8	17	10	6	0	2	1	1	1	1	0	4	3	3	2	1	3	0	3	1	3	4	8			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr11:106810483C>T	ENST00000526355.1	-	4	1377	c.909G>A	c.(907-909)aaG>aaA	p.K303K	GUCY1A2_ENST00000347596.2_Silent_p.K303K|GUCY1A2_ENST00000282249.2_Silent_p.K303K	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	303					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		GTGGAAGGTTCTTCATGATAT	0.428													9	42					0	0	1	0	0	T	106810483	C	T	106810483	2	4	111	1	0	0	0	0	0	0	0	1	6934	912	32	2		2	GUCY1A2	11	106810483	Silent	SNP	C	TCGA-FC-7961-01A-11D-A29Q-08	31663927	106810483	28196033	49	5780											
CHD4	1108	broad.mit.edu	37	chr12	6703665	6703665	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaagactgctgtctgtacaGttttcccaaggcccatctca	9	11	9	12	0	2	1	1	0	2	1	4	2	3	2	2	2	2	3	2	2	3	3			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr12:6703665G>A	ENST00000309577.6	-	15	2436	c.2273C>T	c.(2272-2274)aCt>aTt	p.T758I	CHD4_ENST00000544484.1_Missense_Mutation_p.T755I|CHD4_ENST00000544040.1_Missense_Mutation_p.T751I|CHD4_ENST00000357008.2_Missense_Mutation_p.T758I			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	758	Helicase ATP-binding.				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						TGTCTGTACAGTTTTCCCAAG	0.493													26	65					0	0	1	0	0	A	6703665	G	A	6703665	3	1	111	1	0	0	0	0	1	0	0	0	3349	1029	36	2	3569	2	CHD4	12	6703665	Missense_Mutation	SNP	G	TCGA-FC-7961-01A-11D-A29Q-08		6703665	127148230	50	5781											
SOAT2	8435	broad.mit.edu	37	chr12	53509947	53509947	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggacccttcgtgccagaCgaggtgaggccttcatcttg	6	10	13	12	2	2	2	1	1	1	1	3	4	2	3	3	3	1	0	3	3	0	3			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr12:53509947C>T	ENST00000301466.3	+	7	835	c.775C>T	c.(775-777)Cga>Tga	p.R259*		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	259					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18						TCGTGCCAGACGAGGTGAGGC	0.542													7	67					0	0	1	0	0	T	53509947	C	T	53509947	4	4	111	1	0	0	0	0	0	1	0	0	14965	528	19	1	801	1	SOAT2	12	53509947	Nonsense_Mutation	SNP	C	TCGA-FC-7961-01A-11D-A29Q-08	46806282	53509947	80341948	51	5782											
SNAPC1	6617	broad.mit.edu	37	chr14	62233593	62233593	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattttctctctgtttattaGtggcagaatgagaaatttag	11	18	8	4	0	2	2	0	1	2	2	3	3	2	2	0	1	0	2	0	1	6	8			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr14:62233593G>T	ENST00000216294.4	+	2	232		c.e2-1		RP11-618G20.1_ENST00000555937.1_RNA	NM_003082.3	NP_003073.1	Q16533	SNPC1_HUMAN	small nuclear RNA activating complex, polypeptide 1, 43kDa						regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)		CTGTTTATTAGTGGCAGAATG	0.308													9	15					1.12685e-05	1.24342e-05	1	1	0	T	62233593	G	T	62233593	5	4	111	1	0	0	0	0	0	0	1	0	14888	1043	36	4	134	4	SNAPC1	14	62233593	Splice_Site	SNP	G	TCGA-FC-7961-01A-11D-A29Q-08		62233593	45115947	52	5783											
ATP8B4	79895	broad.mit.edu	37	chr15	50158587	50158587	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agatgccaaagatgccattaCtgtgcattgtaaataaaatg	16	11	8	6	0	0	2	0	0	0	2	0	2	0	2	2	0	4	2	2	0	6	4			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr15:50158587C>T	ENST00000284509.6	-	26	3263	c.3122G>A	c.(3121-3123)aGt>aAt	p.S1041N	ATP8B4_ENST00000559829.1_Missense_Mutation_p.S1041N	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	1041					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		GATGCCATTACTGTGCATTGT	0.403													24	74					0	0	1	0	0	T	50158587	C	T	50158587	3	4	111	1	0	0	0	0	1	0	0	0	1195	565	20	2	468	2	ATP8B4	15	50158587	Missense_Mutation	SNP	C	TCGA-FC-7961-01A-11D-A29Q-08		50158587	52372805	53	5784											
ADCY9	115	broad.mit.edu	37	chr16	4165101	4165101	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagagcgcataccggaaccGgcgctgggtctgcgggaagc	9	4	17	11	5	1	1	0	0	1	1	1	4	1	3	2	4	5	2	2	4	4	1			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr16:4165101G>A	ENST00000294016.3	-	2	881	c.343C>T	c.(343-345)Cgg>Tgg	p.R115W		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	115					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TACCGGAACCGGCGCTGGGTC	0.627													13	62					0	0	1	0	0	A	4165101	G	A	4165101	3	1	111	1	0	0	0	0	1	0	0	0	300	1115	39	1	3758	1	ADCY9	16	4165101	Missense_Mutation	SNP	G	TCGA-FC-7961-01A-11D-A29Q-08		4165101	86189652	54	5785											
PYCARD	29108	broad.mit.edu	37	chr16	31213495	31213495	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggctgccgactgaggaggggCctggatcccagctggcgcgg	5	5	19	12	3	0	1	0	1	0	0	1	4	1	3	3	7	2	2	3	7	0	0			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr16:31213495C>T	ENST00000247470.9	-	2	605	c.304G>A	c.(304-306)Gcc>Acc	p.A102T	PYCARD_ENST00000350605.4_Intron|C16orf98_ENST00000561916.2_Intron	NM_013258.4	NP_037390.2	Q9ULZ3	ASC_HUMAN	PYD and CARD domain containing	102					induction of apoptosis|positive regulation of interleukin-1 beta secretion|positive regulation of NF-kappaB transcription factor activity|proteolysis|tumor necrosis factor-mediated signaling pathway	IkappaB kinase complex	caspase activator activity|cysteine-type endopeptidase activity|protein homodimerization activity|Pyrin domain binding			NS(1)|kidney(1)	2						TGAGGAGGGGCCTGGATCCCA	0.701													11	30					0	0	1	0	0	T	31213495	C	T	31213495	3	4	111	1	0	0	0	0	1	0	0	0	12906	739	26	2	291	2	PYCARD	16	31213495	Missense_Mutation	SNP	C	TCGA-FC-7961-01A-11D-A29Q-08	27048394	31213495	59141258	55	5786											
SPOP	8405	broad.mit.edu	37	chr17	47696425	47696425	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctacggatgaatttcttgAatccccagtctttgccttgc	7	15	7	12	1	3	2	0	2	3	0	4	3	4	3	3	1	3	0	3	1	3	5			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr17:47696425A>C	ENST00000393331.3	-	7	868	c.398T>G	c.(397-399)tTc>tGc	p.F133C	SPOP_ENST00000393328.2_Missense_Mutation_p.F133C|SPOP_ENST00000504102.1_Missense_Mutation_p.F133C|SPOP_ENST00000347630.2_Missense_Mutation_p.F133C|SPOP_ENST00000503676.1_Missense_Mutation_p.F133C	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	133	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.F133C(3)|p.F133S(2)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						GAATTTCTTGAATCCCCAGTC	0.448										Prostate(2;0.17)			31	136					0	0	1	0	0	C	47696425	A	C	47696425	3	2	111	1	0	0	0	0	1	0	0	0	15140	246	9	5	750	5	SPOP	17	47696425	Missense_Mutation	SNP	A	TCGA-FC-7961-01A-11D-A29Q-08		47696425	33498785	56	5787											
COX11	1353	broad.mit.edu	37	chr17	53040259	53040259	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttggggattaagcctttgTtcttcaaaacagaagcactg	11	13	9	8	0	3	1	1	0	2	1	3	2	3	2	1	2	3	2	1	2	4	5			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr17:53040259T>G	ENST00000299335.3	-	4	804	c.666A>C	c.(664-666)gaA>gaC	p.E222D		NM_004375.3	NP_004366.1	Q9Y6N1	COX11_HUMAN	cytochrome c oxidase assembly homolog 11 (yeast)	222					respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	copper ion binding|cytochrome-c oxidase activity|electron carrier activity			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|prostate(1)	9						TAAGCCTTTGTTCTTCAAAAC	0.308													7	67					0	0	1	0	0	G	53040259	T	G	53040259	3	3	111	1	0	0	0	0	1	0	0	0	3786	1722	60	5	234	5	COX11	17	53040259	Missense_Mutation	SNP	T	TCGA-FC-7961-01A-11D-A29Q-08	5343834	53040259	28154951	57	5788											
USP32	84669	broad.mit.edu	37	chr17	58300782	58300782	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattacttacctttactggtTcttgagttactaatggctga	10	17	7	7	0	1	2	0	2	1	0	1	2	1	2	1	2	4	3	1	2	6	8			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr17:58300782T>G	ENST00000300896.4	-	14	1792	c.1598A>C	c.(1597-1599)gAa>gCa	p.E533A	USP32_ENST00000592339.1_Missense_Mutation_p.E203A	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	533	DUSP.				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			CTTTACTGGTTCTTGAGTTAC	0.338													16	33					0	0	1	0	0	G	58300782	T	G	58300782	3	3	111	1	0	0	0	0	1	0	0	0	17123	1783	62	5	3300	5	USP32	17	58300782	Missense_Mutation	SNP	T	TCGA-FC-7961-01A-11D-A29Q-08	5260523	58300782	22894428	58	5789											
DSC3	1825	broad.mit.edu	37	chr18	28576863	28576863	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agtccagggtatgatgatgcCcagccccccggcaggattcc	8	7	12	14	1	0	2	0	2	0	0	2	3	2	3	6	3	2	2	6	3	1	2			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr18:28576863C>T	ENST00000434452.1	-	15	2541	c.2387G>A	c.(2386-2388)gGg>gAg	p.G796E	DSC3_ENST00000360428.4_Missense_Mutation_p.G796E	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	796					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			ATGATGATGCCCAGCCCCCCG	0.517													13	42					0	0	1	0	0	T	28576863	C	T	28576863	3	4	111	1	0	0	0	0	1	0	0	0	4793	623	22	2	342	2	DSC3	18	28576863	Missense_Mutation	SNP	C	TCGA-FC-7961-01A-11D-A29Q-08		28576863	49500385	59	5790											
TNFSF14	0	broad.mit.edu	37	chr19	6670031	6670031	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcctcgtgaatgggatgtcgGtctgtccatccaccacaaac	9	9	10	13	2	1	1	0	1	1	0	5	2	3	2	4	2	1	0	4	2	2	0			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr19:6670031G>A	ENST00000326176.9	-	2	431	c.50C>T	c.(49-51)aCc>aTc	p.T17I	TNFSF14_ENST00000245912.3_Missense_Mutation_p.T17I|TNFSF14_ENST00000599359.1_Missense_Mutation_p.T17I	NM_003807.3|NM_172014.2	NP_003798.2|NP_742011.2	O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	17					cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						TGGGATGTCGGTCTGTCCATC	0.627													6	137					0	0	1	0	0	A	6670031	G	A	6670031	3	1	111	1	0	0	0	0	1	0	0	0	16367	1261	44	2	688	2	TNFSF14	19	6670031	Missense_Mutation	SNP	G	TCGA-FC-7961-01A-11D-A29Q-08		6670031	52458952	60	5791											
FCGRT	2217	broad.mit.edu	37	chr19	50028719	50028719	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gttctctggctgcagaatctCcagccaagtcctccgtgctc	6	11	9	15	1	2	1	0	0	2	1	7	1	4	1	4	1	3	4	4	1	2	1			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr19:50028719C>G	ENST00000221466.5	+	6	1363	c.877C>G	c.(877-879)Cca>Gca	p.P293A	FCGRT_ENST00000599988.1_Missense_Mutation_p.P27A|FCGRT_ENST00000426395.3_Missense_Mutation_p.P293A|FCGRT_ENST00000596975.1_Missense_Mutation_p.P201A	NM_001136019.2	NP_001129491.1	P55899	FCGRN_HUMAN	Fc fragment of IgG, receptor, transporter, alpha	293	Connecting peptide.				antigen processing and presentation|female pregnancy|immune response	integral to membrane|MHC class I protein complex	IgG binding|receptor activity			endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)		TGCAGAATCTCCAGCCAAGTC	0.617													13	137					0	0	1	0	0	G	50028719	C	G	50028719	3	3	111	1	0	0	0	0	1	0	0	0	5819	855	30	4	895	4	FCGRT	19	50028719	Missense_Mutation	SNP	C	TCGA-FC-7961-01A-11D-A29Q-08	43358688	50028719	9100264	61	5792											
IRF3	3661	broad.mit.edu	37	chr19	50165379	50165379	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgccagagagccagtccccCacccaggcagctcagcacat	10	3	9	19	1	1	1	1	0	0	1	2	2	2	1	6	1	3	3	6	1	0	0	rs142339594		TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr19:50165379C>A	ENST00000597198.1	-	6	1189	c.808G>T	c.(808-810)Ggg>Tgg	p.G270W	IRF3_ENST00000309877.7_Missense_Mutation_p.G270W|IRF3_ENST00000377135.4_Intron|IRF3_ENST00000599144.1_Missense_Mutation_p.G124W|IRF3_ENST00000598808.1_Missense_Mutation_p.G124W|IRF3_ENST00000600911.1_Missense_Mutation_p.G270W|IRF3_ENST00000596822.1_Intron|IRF3_ENST00000600022.1_Intron|IRF3_ENST00000601291.1_Missense_Mutation_p.G270W|IRF3_ENST00000596765.1_Intron|IRF3_ENST00000593922.1_Missense_Mutation_p.G124W|IRF3_ENST00000377139.3_Missense_Mutation_p.G270W|IRF3_ENST00000599223.1_Intron			Q14653	IRF3_HUMAN	interferon regulatory factor 3	270	Involved in HERC5 binding.				interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		GCCAGTCCCCCACCCAGGCAG	0.667													4	58					1	1	1	1	0	A	50165379	C	A	50165379	3	1	111	1	0	0	0	0	1	0	0	0	7875	594	21	4	487	4	IRF3	19	50165379	Missense_Mutation	SNP	C	TCGA-FC-7961-01A-11D-A29Q-08	136660	50165379	8963604	62	5793											
ZNF813	126017	broad.mit.edu	37	chr19	53993793	53993793	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acttagagtttcagtggcaaGaagatgaaagaaatagccat	17	9	10	5	0	1	5	1	1	0	4	1	5	1	5	1	1	1	2	1	1	6	3			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr19:53993793G>C	ENST00000396403.4	+	4	435	c.307G>C	c.(307-309)Gaa>Caa	p.E103Q	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	103					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E103K(1)		large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		TCAGTGGCAAGAAGATGAAAG	0.403													38	108					0	0	1	0	0	C	53993793	G	C	53993793	3	2	111	1	0	0	0	0	1	0	0	0	18223	943	33	4	317	4	ZNF813	19	53993793	Missense_Mutation	SNP	G	TCGA-FC-7961-01A-11D-A29Q-08	3828414	53993793	5135190	63	5794											
NLRP13	126204	broad.mit.edu	37	chr19	56424212	56424212	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgagccatcatccaagctcTcagagcgtgactcagatatg	11	8	10	12	2	3	3	3	1	1	2	5	4	4	3	2	0	3	1	2	0	2	1			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr19:56424212T>G	ENST00000588751.1	-	5	995	c.971A>C	c.(970-972)gAg>gCg	p.E324A	NLRP13_ENST00000342929.3_Missense_Mutation_p.E324A			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	324	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		ATCCAAGCTCTCAGAGCGTGA	0.458													17	75					0	0	1	0	0	G	56424212	T	G	56424212	3	3	111	1	0	0	0	0	1	0	0	0	10522	1551	54	5	2186	5	NLRP13	19	56424212	Missense_Mutation	SNP	T	TCGA-FC-7961-01A-11D-A29Q-08	2430419	56424212	2704771	64	5795											
ZFP28	140612	broad.mit.edu	37	chr19	57065054	57065054	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttttcttggtatctttcaggCcagcgatctgtacatgagac	8	15	9	9	1	4	1	1	1	3	1	4	3	4	1	1	2	2	2	1	2	2	6			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr19:57065054C>G	ENST00000301318.3	+	8	971	c.898_splice	c.e8-1	p.G300_splice	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	300					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		ATCTTTCAGGCCAGCGATCTG	0.378													8	53					0	0	1	0	0	G	57065054	C	G	57065054	5	3	111	1	0	0	0	0	0	0	1	0	17700	753	26	4	930	4	ZFP28	19	57065054	Splice_Site	SNP	C	TCGA-FC-7961-01A-11D-A29Q-08	640842	57065054	2063929	65	5796											
BIK	638	broad.mit.edu	37	chr22	43523734	43523734	+	Frame_Shift_Del	DEL	G	G	-																															ccctgcggctggcctgcatcGgggacgagatggacgtgagc																										TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chr22:43523734delG	ENST00000216115.2	+	3	256	c.193delG	c.(193-195)ggfs	p.G65fs		NM_001197.4	NP_001188.1	Q13323	BIK_HUMAN	BCL2-interacting killer (apoptosis-inducing)	65					apoptosis|induction of apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	endomembrane system|integral to membrane				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1)	5		Ovarian(80;0.0694)				GGCCTGCATCGGGGACGAGAT	0.677													2	4	---	---	---	---						-	43523734	G	-	43523734	7	5	111	1	0	1	0	1	0	0	0	0	1430	1116	39	0	199	0	BIK	22	43523734	Frame_Shift_Del	DEL	G	TCGA-FC-7961-01A-11D-A29Q-08		43523734	7780832	66	5797											
EIF2S3	1968	broad.mit.edu	37	chrX	24075812	24075812	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatagatcttgtgggagcagTacacctgacgagtttcctac	10	12	10	9	1	1	2	0	1	1	1	2	4	2	3	2	1	3	3	2	1	4	6			TCGA-FC-7961-01A-11D-A29Q-08	TCGA-FC-7961-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58fdfbae-715d-4b84-9c40-5f5823a79bef	610916cc-7c38-42e8-8b8d-591284520b3e	g.chrX:24075812T>C	ENST00000253039.4	+	4	577	c.324T>C	c.(322-324)agT>agC	p.S108S		NM_001415.3	NP_001406.1	P41091	IF2G_HUMAN	eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa	108						cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(1)	12						GTGGGAGCAGTACACCTGACG	0.373													4	34					0	0	1	0	0	C	24075812	T	C	24075812	2	2	111	1	0	0	0	0	0	0	0	1	5037	1635	57	3		3	EIF2S3	23	24075812	Silent	SNP	T	TCGA-FC-7961-01A-11D-A29Q-08		24075812	131194748	67	5798											
NADK	65220	broad.mit.edu	37	chr1	1688005	1688005	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttcatcgctggcgatggcagGgtcttctagcactttctttt	5	16	10	10	2	4	0	1	0	3	0	5	1	4	0	0	3	1	3	0	3	1	6	rs147892956	byFrequency	TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr1:1688005G>A	ENST00000344463.4	-	7	1092	c.871C>T	c.(871-873)Cct>Tct	p.P291S	NADK_ENST00000341991.3_Missense_Mutation_p.P146S|NADK_ENST00000378625.1_Missense_Mutation_p.P291S|NADK_ENST00000341426.5_Missense_Mutation_p.P146S|NADK_ENST00000342348.5_Missense_Mutation_p.P114S			O95544	NADK_HUMAN	NAD kinase	146					ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		GCGATGGCAGGGTCTTCTAGC	0.527													3	31					0	0	1	0	0	A	1688005	G	A	1688005	3	1	112	1	0	0	0	0	1	0	0	0	10185	1232	43	2	936	2	NADK	1	1688005	Missense_Mutation	SNP	G	TCGA-FC-A4JI-01A-11D-A257-08		1688005	247562616	1	5799											
PRKCZ	5590	broad.mit.edu	37	chr1	2082320	2082320	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctaatcagagtcatcgggcGcgggagctacgccaaggttc	9	7	13	12	4	2	1	2	0	0	1	4	2	2	2	2	3	2	2	2	3	3	3			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr1:2082320G>A	ENST00000400921.2	+	6	913	c.230G>A	c.(229-231)cGc>cAc	p.R77H	PRKCZ_ENST00000400920.1_Missense_Mutation_p.R77H|PRKCZ_ENST00000479263.1_3'UTR	NM_001033581.1	NP_001028753.1	Q05513	KPCZ_HUMAN	protein kinase C, zeta	260	OPR.				anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation	endosome	ATP binding|protein kinase C activity|zinc ion binding	p.R260H(1)		breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)		GTCATCGGGCGCGGGAGCTAC	0.512													3	33					0	0	1	0	0	A	2082320	G	A	2082320	3	1	112	1	0	0	0	0	1	0	0	0	12569	1087	38	1	813	1	PRKCZ	1	2082320	Missense_Mutation	SNP	G	TCGA-FC-A4JI-01A-11D-A257-08	394315	2082320	247168301	2	5800											
PADI3	51702	broad.mit.edu	37	chr1	17599873	17599873	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacgttcaggcgccgcacaaGaccctcccggtggtctttga	7	9	11	14	4	2	2	1	1	1	1	3	2	3	2	3	3	1	2	3	3	2	3			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr1:17599873G>C	ENST00000375460.3	+	10	1126	c.1086G>C	c.(1084-1086)aaG>aaC	p.K362N		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	362					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CGCCGCACAAGACCCTCCCGG	0.602													8	25					0	0	1	0	0	C	17599873	G	C	17599873	3	2	112	1	0	0	0	0	1	0	0	0	11426	933	33	4	1124	4	PADI3	1	17599873	Missense_Mutation	SNP	G	TCGA-FC-A4JI-01A-11D-A257-08	15517553	17599873	231650748	3	5801											
SLC44A5	204962	broad.mit.edu	37	chr1	75805314	75805314	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtcatatgtccttggatcAcctgcatttaaaacaaagac	13	11	8	9	0	2	1	2	0	0	1	3	2	3	2	2	2	2	1	2	2	4	4			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr1:75805314A>G	ENST00000370855.5	-	4	167	c.52_splice	c.e4-1	p.G18_splice	SLC44A5_ENST00000370859.3_Splice_Site_p.G18_splice|SLC44A5_ENST00000535611.1_5'UTR|SLC44A5_ENST00000469525.1_5'UTR	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	18						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						TCCTTGGATCACCTGCATTTA	0.323													42	156					0	0	1	0	0	G	75805314	A	G	75805314	5	3	112	1	0	0	0	0	0	0	1	0	14694	173	6	3	2300	3	SLC44A5	1	75805314	Splice_Site	SNP	A	TCGA-FC-A4JI-01A-11D-A257-08	58205441	75805314	173445307	4	5802											
BMP10	27302	broad.mit.edu	37	chr2	69092997	69092997	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccacggcattcataggcttcGtatccaggcggagcgatgat	9	9	12	11	4	1	1	1	1	0	0	3	3	2	2	2	4	1	3	2	4	2	4			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr2:69092997G>A	ENST00000295379.1	-	2	1199	c.1041C>T	c.(1039-1041)taC>taT	p.Y347Y		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	347					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						CATAGGCTTCGTATCCAGGCG	0.517													21	48					0	0	1	0	0	A	69092997	G	A	69092997	2	1	112	1	0	0	0	0	0	0	0	1	1456	1140	40	1		1	BMP10	2	69092997	Silent	SNP	G	TCGA-FC-A4JI-01A-11D-A257-08		69092997	174106376	5	5803											
LRRTM1	347730	broad.mit.edu	37	chr2	80530543	80530543	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcgcaggttgggcatgggCcggaaggtggtgttgggcag	5	8	21	7	2	0	0	0	0	0	0	0	1	0	1	1	7	1	5	1	7	1	2			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr2:80530543C>T	ENST00000295057.3	-	2	1058	c.402G>A	c.(400-402)cgG>cgA	p.R134R	CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_Intron|LRRTM1_ENST00000409148.1_Silent_p.R134R|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000540488.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	134						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						TGGGCATGGGCCGGAAGGTGG	0.622										HNSCC(69;0.2)			40	58					0	0	1	0	0	T	80530543	C	T	80530543	2	4	112	1	0	0	0	0	0	0	0	1	9084	726	26	2		2	LRRTM1	2	80530543	Silent	SNP	C	TCGA-FC-A4JI-01A-11D-A257-08	11437546	80530543	162668830	6	5804											
NCKAP5	344148	broad.mit.edu	37	chr2	134275094	134275094	+	Frame_Shift_Del	DEL	C	C	-																															ctcaagctgtctctttccctCcatggatgaagttatttatt																										TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr2:134275094delC	ENST00000409261.1	-	3	377	c.4delG	c.(4-6)agfs	p.E2fs	NCKAP5_ENST00000405974.3_Frame_Shift_Del_p.E2fs|NCKAP5_ENST00000317721.6_Frame_Shift_Del_p.E2fs|NCKAP5_ENST00000409213.1_Frame_Shift_Del_p.E2fs	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	2							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CTCTTTCCCTCCATGGATGAA	0.378													2	4	---	---	---	---						-	134275094	C	-	134275094	7	5	112	1	0	1	0	1	0	0	0	0	10270	864	30	0	5797	0	NCKAP5	2	134275094	Frame_Shift_Del	DEL	C	TCGA-FC-A4JI-01A-11D-A257-08	53744551	134275094	108924279	7	5805											
ZEB2	9839	broad.mit.edu	37	chr2	145156431	145156431	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attactcctggagtggtccaAtttttcaactggtttaatat	10	17	7	7	0	1	0	1	0	0	0	3	1	3	1	2	3	2	1	2	3	5	6			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr2:145156431A>G	ENST00000558170.2	-	8	3507	c.2323T>C	c.(2323-2325)Ttg>Ctg	p.L775L	ZEB2_ENST00000539609.3_Silent_p.L751L|ZEB2_ENST00000409487.3_Silent_p.L775L|ZEB2_ENST00000303660.4_Silent_p.L775L	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	775						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GAGTGGTCCAATTTTTCAACT	0.403													46	154					0	0	1	0	0	G	145156431	A	G	145156431	2	3	112	1	0	0	0	0	0	0	0	1	17682	98	4	3		3	ZEB2	2	145156431	Silent	SNP	A	TCGA-FC-A4JI-01A-11D-A257-08	10881337	145156431	98042942	8	5806											
LRP2	4036	broad.mit.edu	37	chr2	170068629	170068629	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttaaatccagtggcacaggcGcaggaaaacaatcctcctgg	13	7	10	11	1	0	0	0	0	0	0	3	1	3	1	3	4	1	2	3	4	5	1	rs111909155		TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr2:170068629G>A	ENST00000263816.3	-	37	6414	c.6129C>T	c.(6127-6129)tgC>tgT	p.C2043C		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2043	EGF-like 8.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TGGCACAGGCGCAGGAAAACA	0.448													21	91					0	0	1	0	0	A	170068629	G	A	170068629	2	1	112	1	0	0	0	0	0	0	0	1	9001	1079	38	1		1	LRP2	2	170068629	Silent	SNP	G	TCGA-FC-A4JI-01A-11D-A257-08	24912198	170068629	73130744	9	5807											
CRYGA	1418	broad.mit.edu	37	chr2	209027941	209027941	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gactcacatgaggaattataCggcaggattggaccgagtcg	12	8	13	8	3	1	1	1	1	0	0	2	6	1	4	1	4	1	1	1	4	3	3	rs139353014	byFrequency	TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr2:209027941C>T	ENST00000304502.4	-	2	258	c.239G>A	c.(238-240)cGt>cAt	p.R80H		NM_014617.3	NP_055432.2			crystallin, gamma A											endometrium(1)|kidney(3)|large_intestine(1)|lung(7)	12				Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135)		AGGAATTATACGGCAGGATTG	0.498													32	27					0	0	1	0	0	T	209027941	C	T	209027941	3	4	112	1	0	0	0	0	1	0	0	0	3937	536	19	1	293	1	CRYGA	2	209027941	Missense_Mutation	SNP	C	TCGA-FC-A4JI-01A-11D-A257-08	38959312	209027941	34171432	10	5808											
C2orf80	389073	broad.mit.edu	37	chr2	209036736	209036736	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgcgggcgtatgctgctgCtttgggtgctgttaacatgg	4	15	15	7	2	0	0	0	0	0	0	0	0	0	0	0	3	6	6	0	3	2	4			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr2:209036736C>A	ENST00000341287.4	-	7	625	c.430G>T	c.(430-432)Gca>Tca	p.A144S	C2orf80_ENST00000451346.1_Missense_Mutation_p.A125S|C2orf80_ENST00000453017.1_Intron	NM_001099334.2	NP_001092804.1	Q0P641	CB080_HUMAN	chromosome 2 open reading frame 80	144										endometrium(2)|large_intestine(3)|lung(6)|skin(2)	13						TATGCTGCTGCTTTGGGTGCT	0.463													55	154					1.67886e-27	1.77762e-27	1	1	0	A	209036736	C	A	209036736	3	1	112	1	0	0	0	0	1	0	0	0	2211	797	28	4	163	4	C2orf80	2	209036736	Missense_Mutation	SNP	C	TCGA-FC-A4JI-01A-11D-A257-08	8795	209036736	34162637	11	5809											
PTPRN	5798	broad.mit.edu	37	chr2	220162005	220162005	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttggcttgggccggctcctCgcaccaggacggggtgctgc	3	8	17	13	3	0	0	0	0	0	0	2	1	1	1	3	6	2	5	3	6	0	2			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr2:220162005C>T	ENST00000295718.2	-	14	2278	c.2038G>A	c.(2038-2040)Gag>Aag	p.E680K	PTPRN_ENST00000423636.2_Missense_Mutation_p.E590K|PTPRN_ENST00000409251.3_Missense_Mutation_p.E651K	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	680					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GCCGGCTCCTCGCACCAGGAC	0.652													25	20					0	0	1	0	0	T	220162005	C	T	220162005	3	4	112	1	0	0	0	0	1	0	0	0	12859	893	31	1	941	1	PTPRN	2	220162005	Missense_Mutation	SNP	C	TCGA-FC-A4JI-01A-11D-A257-08	11125269	220162005	23037368	12	5810											
GNAI2	2771	broad.mit.edu	37	chr3	50289913	50289913	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacaccatccagtccatcatGgccattgtcaaagccatggg	12	8	8	13	0	2	0	2	0	0	0	4	0	4	0	5	2	2	0	5	2	2	1			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr3:50289913G>C	ENST00000313601.6	+	3	630	c.246G>C	c.(244-246)atG>atC	p.M82I	GNAI2_ENST00000440628.1_Missense_Mutation_p.M30I|GNAI2_ENST00000422163.1_Missense_Mutation_p.M66I|GNAI2_ENST00000266027.5_Missense_Mutation_p.M66I|GNAI2_ENST00000536647.1_Start_Codon_SNP_p.M1I|GNAI2_ENST00000451956.1_Missense_Mutation_p.M45I|GNAI2_ENST00000491100.1_3'UTR	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2	82					adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		AGTCCATCATGGCCATTGTCA	0.597													19	32					0	0	1	0	0	C	50289913	G	C	50289913	3	2	112	1	0	0	0	0	1	0	0	0	6547	1348	47	4	267	4	GNAI2	3	50289913	Missense_Mutation	SNP	G	TCGA-FC-A4JI-01A-11D-A257-08		50289913	147732517	13	5811											
LEPREL1	55214	broad.mit.edu	37	chr3	189838441	189838441	+	Frame_Shift_Del	DEL	G	G	-																															gctcccggcgtgggctgtccGgggggccgccccacagtggc																										TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr3:189838441delG	ENST00000319332.5	-	1	277	c.80delC	c.(79-81)cgfs	p.P27fs	LEPREL1_ENST00000427335.2_Intron	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	27					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TGGGCTGTCCGGGGGGCCGCC	0.746													2	4	---	---	---	---						-	189838441	G	-	189838441	7	5	112	1	0	1	0	1	0	0	0	0	8769	1116	39	0	2106	0	LEPREL1	3	189838441	Frame_Shift_Del	DEL	G	TCGA-FC-A4JI-01A-11D-A257-08	139548528	189838441	8183989	14	5812											
HTT	3064	broad.mit.edu	37	chr4	3234976	3234976	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagggttggagccctgcaCggcgtcctctatgtgctgga	6	9	15	11	2	1	0	0	0	1	0	2	2	2	2	2	4	4	4	2	4	1	2			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr4:3234976C>T	ENST00000355072.5	+	61	8497	c.8352C>T	c.(8350-8352)caC>caT	p.H2784H	HTT_ENST00000513806.1_Intron	NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	2784					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GAGCCCTGCACGGCGTCCTCT	0.637													28	95					0	0	1	0	0	T	3234976	C	T	3234976	2	4	112	1	0	0	0	0	0	0	0	1	7501	535	19	1		1	HTT	4	3234976	Silent	SNP	C	TCGA-FC-A4JI-01A-11D-A257-08		3234976	187919300	15	5813											
NNT	23530	broad.mit.edu	37	chr5	43624173	43624173	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgttgctgggcttgcttctGcaggcgcagcaaagtcgatg	6	11	15	9	2	1	0	0	0	1	0	2	1	1	0	0	2	4	7	0	2	1	3			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr5:43624173G>A	ENST00000264663.5	+	6	948	c.727G>A	c.(727-729)Gca>Aca	p.A243T	NNT_ENST00000344920.4_Missense_Mutation_p.A243T|NNT_ENST00000512996.2_Missense_Mutation_p.A112T	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	243					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	GCTTGCTTCTGCAGGCGCAGC	0.413													89	141					0	0	1	0	0	A	43624173	G	A	43624173	3	1	112	1	0	0	0	0	1	0	0	0	10557	1319	46	2	745	2	NNT	5	43624173	Missense_Mutation	SNP	G	TCGA-FC-A4JI-01A-11D-A257-08		43624173	137291087	16	5814											
KIF13A	63971	broad.mit.edu	37	chr6	17828567	17828567	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatgccaaaaagctggataTcttgagaggtatctgcaccc	12	10	9	10	0	2	1	0	1	2	1	2	3	2	2	2	2	3	3	2	2	5	4			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr6:17828567T>C	ENST00000378814.5	-	14	1435	c.1436A>G	c.(1435-1437)gAt>gGt	p.D479G	KIF13A_ENST00000259711.6_Missense_Mutation_p.D479G|KIF13A_ENST00000378826.2_Missense_Mutation_p.D479G|KIF13A_ENST00000378816.5_Missense_Mutation_p.D479G|KIF13A_ENST00000378843.2_Missense_Mutation_p.D479G	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	479	FHA.				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			AAGCTGGATATCTTGAGAGGT	0.403													10	9					0	0	1	0	0	C	17828567	T	C	17828567	3	2	112	1	0	0	0	0	1	0	0	0	8316	1435	50	3	4110	3	KIF13A	6	17828567	Missense_Mutation	SNP	T	TCGA-FC-A4JI-01A-11D-A257-08		17828567	153286500	17	5815											
AHI1	54806	broad.mit.edu	37	chr6	135787209	135787209	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacttttctgatgatcaacGcctggctgtggctttgtatg	6	16	10	9	1	3	2	2	2	1	0	3	2	3	2	1	2	1	3	1	2	2	4			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr6:135787209G>A	ENST00000367800.4	-	5	708	c.492C>T	c.(490-492)ggC>ggT	p.G164G	AHI1_ENST00000327035.6_Silent_p.G164G|AHI1_ENST00000457866.2_Silent_p.G164G	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	164						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		GATGATCAACGCCTGGCTGTG	0.443													19	43					0	0	1	0	0	A	135787209	G	A	135787209	2	1	112	1	0	0	0	0	0	0	0	1	410	1074	38	1		1	AHI1	6	135787209	Silent	SNP	G	TCGA-FC-A4JI-01A-11D-A257-08	117958642	135787209	35327858	18	5816											
NUP205	23165	broad.mit.edu	37	chr7	135282771	135282771	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actaaatgaaatagaatcccGgtgtgaagaatacccattga	17	9	8	7	1	0	5	0	3	0	2	1	5	1	5	2	1	1	0	2	1	8	4			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr7:135282771G>A	ENST00000285968.6	+	15	2116	c.2090G>A	c.(2089-2091)cGg>cAg	p.R697Q	NUP205_ENST00000440390.2_3'UTR	NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	697					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						ATAGAATCCCGGTGTGAAGAA	0.403													38	159					0	0	1	0	0	A	135282771	G	A	135282771	3	1	112	1	0	0	0	0	1	0	0	0	10807	1116	39	1	2148	1	NUP205	7	135282771	Missense_Mutation	SNP	G	TCGA-FC-A4JI-01A-11D-A257-08		135282771	23855892	19	5817											
STAU2	27067	broad.mit.edu	37	chr8	74601015	74601015	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgccttcggattcccatgTctgctcaccaagactcagct	7	11	8	15	1	3	1	2	0	1	1	5	2	4	2	3	1	3	3	3	1	1	2			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr8:74601015T>C	ENST00000355780.5	-	4	270	c.52A>G	c.(52-54)Aca>Gca	p.T18A	STAU2_ENST00000523558.1_Intron|STAU2_ENST00000517542.1_Missense_Mutation_p.T12A|STAU2_ENST00000524300.1_Missense_Mutation_p.T50A|STAU2_ENST00000521727.1_Missense_Mutation_p.T30A|RP11-463D19.2_ENST00000358757.5_3'UTR|STAU2_ENST00000521419.1_Missense_Mutation_p.T12A|STAU2_ENST00000524104.1_Missense_Mutation_p.T18A|STAU2_ENST00000522509.1_Missense_Mutation_p.T18A|STAU2_ENST00000521451.1_Intron|STAU2_ENST00000519961.1_Missense_Mutation_p.T50A|STAU2_ENST00000522695.1_Missense_Mutation_p.T18A|STAU2_ENST00000522962.1_5'UTR|STAU2_ENST00000521210.1_Intron|RP11-463D19.1_ENST00000533978.1_lincRNA	NM_014393.2	NP_055208.2	Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	50	DRBM 1.				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			GATTCCCATGTCTGCTCACCA	0.418													52	174					0	0	1	0	0	C	74601015	T	C	74601015	3	2	112	1	0	0	0	0	1	0	0	0	15329	1667	58	3	1732	3	STAU2	8	74601015	Missense_Mutation	SNP	T	TCGA-FC-A4JI-01A-11D-A257-08		74601015	71763007	20	5818											
ST3GAL1	6482	broad.mit.edu	37	chr8	134488066	134488066	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaccaggccgagagcttgcGctgcccgatgcagtgggtgc	7	6	16	12	3	0	1	0	0	0	1	0	4	0	1	3	2	6	3	3	2	1	1			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr8:134488066G>A	ENST00000319914.5	-	4	1229	c.202C>T	c.(202-204)Cgc>Tgc	p.R68C	ST3GAL1_ENST00000522652.1_Missense_Mutation_p.R68C|ST3GAL1_ENST00000521180.1_Missense_Mutation_p.R68C|ST3GAL1_ENST00000399640.2_Missense_Mutation_p.R68C			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	68					protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			GAGAGCTTGCGCTGCCCGATG	0.612													18	85					0	0	1	0	0	A	134488066	G	A	134488066	3	1	112	1	0	0	0	0	1	0	0	0	15270	1087	38	1	844	1	ST3GAL1	8	134488066	Missense_Mutation	SNP	G	TCGA-FC-A4JI-01A-11D-A257-08	59887051	134488066	11875956	21	5819											
PCSK5	5125	broad.mit.edu	37	chr9	78790197	78790197	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ggaatggaatggaatcgaatCgaatcgaatcgaatagaata	18	8	11	4	4	0	1	0	0	0	1	4	8	0	4	0	3	0	0	0	3	10	2			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr9:78790197C>G	ENST00000376767.3	+	14	2564	c.2052C>G	c.(2050-2052)atC>atG	p.I684M	PCSK5_ENST00000545128.1_Intron|PCSK5_ENST00000376752.4_Intron			Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	0	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						ggaatcgaatcgaatcgaatc	0.358													3	2					0	0	1	0	0	G	78790197	C	G	78790197	3	3	112	1	0	0	0	0	1	0	0	0	11650	899	31	4		4	PCSK5	9	78790197	Missense_Mutation	SNP	C	TCGA-FC-A4JI-01A-11D-A257-08		78790197	62423234	22	5820											
FAM196A	642938	broad.mit.edu	37	chr10	128973673	128973673	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaggctggttccccagcccCggcggggtgtgagtctgcga	4	8	16	13	3	1	1	0	1	1	0	2	2	2	1	4	5	2	2	4	5	1	2			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr10:128973673C>T	ENST00000522781.1	-	4	1542	c.987G>A	c.(985-987)ccG>ccA	p.P329P	DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Silent_p.P329P	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	329										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TCCCCAGCCCCGGCGGGGTGT	0.632													55	67					0	0	1	0	0	T	128973673	C	T	128973673	2	4	112	1	0	0	0	0	0	0	0	1	5560	639	23	1		1	FAM196A	10	128973673	Silent	SNP	C	TCGA-FC-A4JI-01A-11D-A257-08		128973673	6561074	23	5821											
ROBO3	64221	broad.mit.edu	37	chr11	124742974	124742974	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaacggtaccctgtacatcGccaatgtgcaggtgagtgtc	9	9	11	12	2	0	1	0	1	0	0	2	1	0	1	3	2	4	3	3	2	4	2			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr11:124742974G>A	ENST00000397801.1	+	9	1717	c.1525G>A	c.(1525-1527)Gcc>Acc	p.A509T	ROBO3_ENST00000538940.1_Missense_Mutation_p.A487T	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	509	Ig-like C2-type 5.				axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		CCTGTACATCGCCAATGTGCA	0.562													6	27					0	0	1	0	0	A	124742974	G	A	124742974	3	1	112	1	0	0	0	0	1	0	0	0	13567	1087	38	1	1559	1	ROBO3	11	124742974	Missense_Mutation	SNP	G	TCGA-FC-A4JI-01A-11D-A257-08		124742974	10263542	24	5822											
RAD52	5893	broad.mit.edu	37	chr12	1025570	1025570	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcttctccatccgctcccGgaactgctgctgcagctgct	4	11	9	17	2	1	0	0	0	1	0	4	1	3	1	3	1	7	7	3	1	1	1			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr12:1025570G>A	ENST00000358495.3	-	9	943	c.805C>T	c.(805-807)Cgg>Tgg	p.R269W	RAD52_ENST00000539046.1_Missense_Mutation_p.R192W|RAD52_ENST00000536177.1_Missense_Mutation_p.P286L|RAD52_ENST00000430095.2_Missense_Mutation_p.R269W|RAD52_ENST00000535376.1_5'UTR	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	RAD52 homolog (S. cerevisiae)	269					DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			atccgctcccggaactgctgc	0.677								Homologous recombination					3	21					0	0	1	0	0	A	1025570	G	A	1025570	3	1	112	1	0	0	0	0	1	0	0	0	13043	1115	39	1	467	1	RAD52	12	1025570	Missense_Mutation	SNP	G	TCGA-FC-A4JI-01A-11D-A257-08		1025570	132826325	25	5823											
CENPJ	55835	broad.mit.edu	37	chr13	25480341	25480341	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacaggggtggaagacatcCggtgacctttgcagatctgt	9	10	14	8	1	1	4	0	2	1	2	2	5	2	5	2	4	1	1	2	4	1	1	rs141856342	byFrequency	TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr13:25480341C>T	ENST00000381884.4	-	7	2020	c.1835G>A	c.(1834-1836)cGg>cAg	p.R612Q	CENPJ_ENST00000545981.1_Missense_Mutation_p.R612Q	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	612					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		GGAAGACATCCGGTGACCTTT	0.428													9	31					0	0	1	0	0	T	25480341	C	T	25480341	3	4	112	1	0	0	0	0	1	0	0	0	3256	652	23	1	2225	1	CENPJ	13	25480341	Missense_Mutation	SNP	C	TCGA-FC-A4JI-01A-11D-A257-08		25480341	89689537	26	5824											
KBTBD7	84078	broad.mit.edu	37	chr13	41767137	41767137	+	Frame_Shift_Del	DEL	T	T	-																															tcacgacacagcaagcgatcTgcaagttgctgccaactatt																										TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr13:41767137delT	ENST00000379483.3	-	1	1565	c.1257delA	c.(1255-1257)gcfs	p.A419fs		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	419							protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		GCAAGCGATCTGCAAGTTGCT	0.498													20	83	---	---	---	---						-	41767137	T	-	41767137	7	5	112	1	0	1	0	1	0	0	0	0	8042	1567	55	0	801	0	KBTBD7	13	41767137	Frame_Shift_Del	DEL	T	TCGA-FC-A4JI-01A-11D-A257-08	16286796	41767137	73402741	27	5825											
MYCBP2	23077	broad.mit.edu	37	chr13	77853046	77853046	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaaggccaacctcaataaTctatttaaaaggaaaaaata	22	8	4	7	0	2	0	1	0	1	0	2	1	2	1	2	2	1	0	2	2	11	5			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr13:77853046T>C	ENST00000407578.2	-	4	861	c.594_splice	c.e4-1	p.I199_splice	MYCBP2_ENST00000544440.2_Splice_Site_p.I161_splice|MYCBP2_ENST00000357337.6_Splice_Site_p.I161_splice|MYCBP2_ENST00000360084.5_5'UTR	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	161					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)		ACCTCAATAATCTATTTAAAA	0.358													10	25					0	0	1	0	0	C	77853046	T	C	77853046	5	2	112	1	0	0	0	0	0	0	1	0	10066	1449	50	3	13761	3	MYCBP2	13	77853046	Splice_Site	SNP	T	TCGA-FC-A4JI-01A-11D-A257-08	36085909	77853046	37316832	28	5826											
TP53BP1	7158	broad.mit.edu	37	chr15	43701249	43701249	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggaagtacttccgggttcGacaatgctgatccgcaatta	11	10	10	10	3	0	1	0	1	0	0	3	3	2	2	2	2	2	4	2	2	5	4			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr15:43701249G>A	ENST00000263801.3	-	26	5683	c.5431C>T	c.(5431-5433)Cga>Tga	p.R1811*	TP53BP1_ENST00000382039.3_Nonsense_Mutation_p.R1766*|TP53BP1_ENST00000382044.4_Nonsense_Mutation_p.R1816*|TP53BP1_ENST00000450115.2_Nonsense_Mutation_p.R1814*	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1811	BRCT 1.				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TTCCGGGTTCGACAATGCTGA	0.498								Other conserved DNA damage response genes					7	40					0	0	1	0	0	A	43701249	G	A	43701249	4	1	112	1	0	0	0	0	0	1	0	0	16444	1066	37	1	499	1	TP53BP1	15	43701249	Nonsense_Mutation	SNP	G	TCGA-FC-A4JI-01A-11D-A257-08		43701249	58830143	29	5827											
MYO15A	51168	broad.mit.edu	37	chr17	18023051	18023051	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctacggctacgacgattacGaacccccatatgcgcccccg	9	6	9	17	6	0	0	0	0	0	0	0	3	0	0	4	1	5	2	4	1	5	4			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr17:18023051G>A	ENST00000205890.5	+	2	1275	c.937G>A	c.(937-939)Gaa>Aaa	p.E313K		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	313	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	p.E313K(1)		breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CGACGATTACGAACCCCCATA	0.612													24	47					0	0	1	0	0	A	18023051	G	A	18023051	3	1	112	1	0	0	0	0	1	0	0	0	10111	1059	37	1	939	1	MYO15A	17	18023051	Missense_Mutation	SNP	G	TCGA-FC-A4JI-01A-11D-A257-08		18023051	63172159	30	5828											
ACACA	31	broad.mit.edu	37	chr17	35479506	35479506	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgggatacttagttctactgTtcgggtttctacagcaacaa	10	14	9	8	1	2	0	0	0	2	0	3	1	2	1	0	2	5	4	0	2	6	7			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr17:35479506T>C	ENST00000353139.5	-	49	6566	c.6085A>G	c.(6085-6087)Aca>Gca	p.T2029A	ACACA_ENST00000361253.5_Missense_Mutation_p.T118A|ACACA_ENST00000394406.2_Missense_Mutation_p.T1992A|ACACA_ENST00000360679.3_Missense_Mutation_p.T1934A|ACACA_ENST00000335166.5_Missense_Mutation_p.T1914A	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1992	Carboxyltransferase.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	AGTTCTACTGTTCGGGTTTCT	0.463													20	73					0	0	1	0	0	C	35479506	T	C	35479506	3	2	112	1	0	0	0	0	1	0	0	0	106	1725	60	3	1098	3	ACACA	17	35479506	Missense_Mutation	SNP	T	TCGA-FC-A4JI-01A-11D-A257-08	17456455	35479506	45715704	31	5829											
PRKAR1A	5573	broad.mit.edu	37	chr17	66519943	66519943	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctgttttcacatcttgaTgataatgagagaaggtagga	12	13	12	4	0	2	4	1	3	1	1	2	6	2	5	0	2	1	3	0	2	3	5	rs3730371		TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr17:66519943T>C	ENST00000589228.1	+	4	554	c.426T>C	c.(424-426)gaT>gaC	p.D142D	PRKAR1A_ENST00000392711.1_Silent_p.D142D|PRKAR1A_ENST00000586397.1_Silent_p.D142D|PRKAR1A_ENST00000588188.2_Silent_p.D142D|PRKAR1A_ENST00000358598.2_Silent_p.D142D|PRKAR1A_ENST00000536854.2_Silent_p.D142D	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha	142					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding			adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					CACATCTTGATGATAATGAGA	0.368			"T, Mis, N, F, S"	RET	papillary thyroid	"myxoma, endocrine, papillary thyroid"			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of				12	21					0	0	1	0	0	C	66519943	T	C	66519943	2	2	112	1	0	0	0	0	0	0	0	1	12555	1461	51	3		3	PRKAR1A	17	66519943	Silent	SNP	T	TCGA-FC-A4JI-01A-11D-A257-08	31040437	66519943	14675267	32	5830											
RNF213	57674	broad.mit.edu	37	chr17	78320681	78320681	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttagatgaggtggggctggCggaagactcacccaaaatgc	11	7	15	8	1	1	3	1	1	0	2	1	4	1	4	1	5	1	2	1	5	4	1			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr17:78320681C>T	ENST00000582970.1	+	29	8689	c.8546C>T	c.(8545-8547)gCg>gTg	p.A2849V	RNF213_ENST00000508628.2_Missense_Mutation_p.A2898V|RNF213_ENST00000336301.6_Missense_Mutation_p.A922V	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GTGGGGCTGGCGGAAGACTCA	0.602													11	35					0	0	1	0	0	T	78320681	C	T	78320681	3	4	112	1	0	0	0	0	1	0	0	0	13529	768	27	1	8975	1	RNF213	17	78320681	Missense_Mutation	SNP	C	TCGA-FC-A4JI-01A-11D-A257-08	11800738	78320681	2874529	33	5831											
ZNF236	7776	broad.mit.edu	37	chr18	74620423	74620423	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacggcagaggtggtcgcAgcgaaccccgaggccatgct	9	4	15	13	4	0	2	0	0	0	2	1	4	0	2	3	4	3	3	3	4	1	0			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr18:74620423A>G	ENST00000253159.8	+	14	2637	c.2439A>G	c.(2437-2439)gcA>gcG	p.A813A	ZNF236_ENST00000320610.9_Silent_p.A815A	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	813					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		AGGTGGTCGCAGCGAACCCCG	0.632													40	39					0	0	1	0	0	G	74620423	A	G	74620423	2	3	112	1	0	0	0	0	0	0	0	1	17847	175	7	3		3	ZNF236	18	74620423	Silent	SNP	A	TCGA-FC-A4JI-01A-11D-A257-08		74620423	3456825	34	5832											
PSG8	0	broad.mit.edu	37	chr19	43268388	43268388	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttggctgggcttcaatcGtgacttgggcagtcgtgggt	4	13	17	7	2	1	1	1	1	0	0	3	1	1	1	0	5	0	4	0	5	1	3	rs142689447		TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr19:43268388G>A	ENST00000404209.4	-	2	206	c.110C>T	c.(109-111)aCg>aTg	p.T37M	PSG8_ENST00000406636.3_Intron|PSG8_ENST00000401467.2_Missense_Mutation_p.T37M|PSG8_ENST00000306511.4_Missense_Mutation_p.T37M	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	37	Ig-like V-type.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GGCTTCAATCGTGACTTGGGC	0.463													38	97					0	0	1	0	0	A	43268388	G	A	43268388	3	1	112	1	0	0	0	0	1	0	0	0	12710	1145	40	1	1207	1	PSG8	19	43268388	Missense_Mutation	SNP	G	TCGA-FC-A4JI-01A-11D-A257-08		43268388	15860595	35	5833											
PSG7	5676	broad.mit.edu	37	chr19	43439764	43439764	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gatgtaacataatggtagagGtccctgatttgtcctttgta	10	15	10	6	0	0	2	0	1	0	1	2	3	2	2	2	2	1	3	2	2	4	6			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr19:43439764G>A	ENST00000406070.2	-	0	318				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				AATGGTAGAGGTCCCTGATTT	0.423													48	152					0	0	1	0	0	A	43439764	G	A	43439764	1	1	112	0	1	0	0	0	0	0	0	0	12709	1252	44	2		2	PSG7	19	43439764	RNA	SNP	G	TCGA-FC-A4JI-01A-11D-A257-08	171376	43439764	15689219	36	5834											
CACNG7	59284	broad.mit.edu	37	chr19	54444869	54444869	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctccttcctactcaaagaGgtgacgtccgtgggacctag	8	10	10	13	2	1	2	1	1	0	1	5	3	5	3	5	2	1	0	5	2	3	3			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chr19:54444869G>A	ENST00000391767.1	+	5	782	c.570_splice	c.e5+1	p.E190_splice	CACNG7_ENST00000391766.1_Silent_p.E190E|CACNG7_ENST00000222212.2_Splice_Site_p.E190_splice			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	190					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		TACTCAAAGAGGTGACGTCCG	0.552													4	77					0	0	1	0	0	A	54444869	G	A	54444869	5	1	112	1	0	0	0	0	0	0	1	0	2580	1014	35	2	584	2	CACNG7	19	54444869	Splice_Site	SNP	G	TCGA-FC-A4JI-01A-11D-A257-08	11005105	54444869	4684114	37	5835											
MAGEB4	4115	broad.mit.edu	37	chrX	30260826	30260826	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgatggaaaccagagcagtGcctggacccttccaaggaat	13	6	11	11	1	0	1	0	0	0	1	1	5	1	4	4	3	3	1	4	3	3	1			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chrX:30260826G>T	ENST00000378982.2	+	1	770	c.574G>T	c.(574-576)Gcc>Tcc	p.A192S		NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	192	MAGE.									breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						CCAGAGCAGTGCCTGGACCCT	0.532													4	9					0.150653	0.150653	1	1	0	T	30260826	G	T	30260826	3	4	112	1	0	0	0	0	1	0	0	0	9228	1319	46	4	576	4	MAGEB4	23	30260826	Missense_Mutation	SNP	G	TCGA-FC-A4JI-01A-11D-A257-08		30260826	125009734	38	5836											
TRO	7216	broad.mit.edu	37	chrX	54957661	54957661	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	attccccatgtttacagataCcgctaataaattgcagtagt	13	13	6	9	1	0	1	0	0	0	1	1	1	1	1	3	0	3	4	3	0	6	8			TCGA-FC-A4JI-01A-11D-A257-08	TCGA-FC-A4JI-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf6e6dd2-52d7-488b-8552-3e174d19744f	d4794705-4c1b-44dc-9a70-ee6671ee7c62	g.chrX:54957661C>G	ENST00000319167.8	+	13	2123	c.2011C>G	c.(2011-2013)Ccg>Gcg	p.P671A	TRO_ENST00000375041.2_3'UTR|TRO_ENST00000420798.2_3'UTR|TRO_ENST00000375022.4_Missense_Mutation_p.P671A|TRO_ENST00000399736.1_Missense_Mutation_p.P274A|TRO_ENST00000173898.7_3'UTR	NM_016157.2	NP_057241.2	Q12816	TROP_HUMAN	trophinin	0					embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						TTTACAGATACCGCTAATAAA	0.413													16	9					0	0	1	0	0	G	54957661	C	G	54957661	3	3	112	1	0	0	0	0	1	0	0	0	16635	507	18	4	4367	4	TRO	23	54957661	Missense_Mutation	SNP	C	TCGA-FC-A4JI-01A-11D-A257-08	24696835	54957661	100312899	39	5837											
C1orf51	148523	broad.mit.edu	37	chr1	150255959	150255959	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctatggcaggatctggggcGaaaagatcaagagatggtga	13	7	15	6	1	2	3	1	1	1	2	2	6	2	4	1	5	0	1	1	5	4	1			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr1:150255959G>A	ENST00000290363.5	+	1	731	c.282G>A	c.(280-282)gcG>gcA	p.A94A	C1orf51_ENST00000469255.1_3'UTR|C1orf51_ENST00000369095.1_Silent_p.A94A|C1orf51_ENST00000369094.1_Silent_p.A6A	NM_144697.2	NP_653298.1	Q8N365	CA051_HUMAN	chromosome 1 open reading frame 51	94										endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GATCTGGGGCGAAAAGATCAA	0.527													4	173					0	0	1	0	0	A	150255959	G	A	150255959	2	1	113	1	0	0	0	0	0	0	0	1	2057	1045	37	1		1	C1orf51	1	150255959	Silent	SNP	G	TCGA-FC-A5OB-01A-11D-A29Q-08		150255959	98994662	1	5838											
NR1I3	0	broad.mit.edu	37	chr1	161206260	161206260	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gactctcacctgaagaaaccCttgcagccctcacaagtcag	12	7	7	15	0	3	2	3	1	1	1	4	3	3	2	3	0	3	1	3	0	3	1			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr1:161206260C>G	ENST00000367983.4	-	2	390	c.96G>C	c.(94-96)aaG>aaC	p.K32N	NR1I3_ENST00000515452.1_Missense_Mutation_p.K32N|NR1I3_ENST00000428574.2_Missense_Mutation_p.K32N|NR1I3_ENST00000367981.3_Intron|NR1I3_ENST00000367979.2_Missense_Mutation_p.K32N|NR1I3_ENST00000367980.2_Missense_Mutation_p.K32N|NR1I3_ENST00000367982.4_Missense_Mutation_p.K32N|NR1I3_ENST00000412844.2_Intron|NR1I3_ENST00000512372.1_Intron|NR1I3_ENST00000511944.1_Missense_Mutation_p.K32N|NR1I3_ENST00000511676.1_Intron|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000506209.1_Intron|NR1I3_ENST00000367984.4_Missense_Mutation_p.K32N|NR1I3_ENST00000508740.1_Intron|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000437437.2_Intron|NR1I3_ENST00000505005.1_Missense_Mutation_p.K32N|NR1I3_ENST00000504010.1_Intron|NR1I3_ENST00000442691.2_Missense_Mutation_p.K32N|NR1I3_ENST00000502985.1_Missense_Mutation_p.K32N|NR1I3_ENST00000367985.3_Missense_Mutation_p.K32N|NR1I3_ENST00000515621.1_Intron			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3	32					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TGAAGAAACCCTTGCAGCCCT	0.537													40	53					0	0	1	0	0	G	161206260	C	G	161206260	3	3	113	1	0	0	0	0	1	0	0	0	10669	680	24	4	1104	4	NR1I3	1	161206260	Missense_Mutation	SNP	C	TCGA-FC-A5OB-01A-11D-A29Q-08	10950301	161206260	88044361	2	5839											
SPEG	10290	broad.mit.edu	37	chr2	220329189	220329189	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcccgtgcgcccagaccagCggcgctttgcggaggaggct	6	5	16	14	5	0	1	0	0	0	1	0	3	0	3	3	4	4	2	3	4	0	1			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr2:220329189C>T	ENST00000312358.7	+	9	2872	c.2740C>T	c.(2740-2742)Cgg>Tgg	p.R914W	SPEG_ENST00000396689.2_Missense_Mutation_p.R65W|SPEG_ENST00000396698.1_Missense_Mutation_p.R810W|SPEG_ENST00000396688.1_Missense_Mutation_p.R65W|SPEG_ENST00000485813.1_3'UTR|SPEG_ENST00000396686.1_Missense_Mutation_p.R65W|SPEG_ENST00000396695.2_Missense_Mutation_p.R122W	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	914	Ig-like 3.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCCAGACCAGCGGCGCTTTGC	0.652													30	73					0	0	1	0	0	T	220329189	C	T	220329189	3	4	113	1	0	0	0	0	1	0	0	0	15092	759	27	1	2774	1	SPEG	2	220329189	Missense_Mutation	SNP	C	TCGA-FC-A5OB-01A-11D-A29Q-08		220329189	22870184	3	5840											
SGOL1	151648	broad.mit.edu	37	chr3	20215804	20215804	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atctgtgtatttcagtgctcTtttagctagaggcctggtga	7	16	11	7	0	3	2	1	1	2	1	3	2	3	2	1	2	2	3	1	2	3	5			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr3:20215804T>G	ENST00000412997.1	-	6	1570	c.1219A>C	c.(1219-1221)Aga>Cga	p.R407R	SGOL1_ENST00000306698.2_Intron|SGOL1_ENST00000452020.1_Intron|SGOL1_ENST00000425061.1_Intron|SGOL1_ENST00000421451.1_Silent_p.R407R|SGOL1_ENST00000443724.1_Intron|SGOL1_ENST00000412868.1_Silent_p.R407R|SGOL1_ENST00000263753.4_Silent_p.R407R|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000417364.1_Intron|SGOL1_ENST00000419233.2_Intron|SGOL1_ENST00000383774.1_Intron|SGOL1_ENST00000437051.1_Intron|SGOL1_ENST00000429446.3_Intron|SGOL1_ENST00000442720.1_Intron	NM_001199251.1	NP_001186180.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	407					attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						TTCAGTGCTCTTTTAGCTAGA	0.413													7	94					0	0	1	0	0	G	20215804	T	G	20215804	2	3	113	1	0	0	0	0	0	0	0	1	14270	1617	56	5		5	SGOL1	3	20215804	Silent	SNP	T	TCGA-FC-A5OB-01A-11D-A29Q-08		20215804	177806626	4	5841											
BCHE	590	broad.mit.edu	37	chr3	165491240	165491240	+	Frame_Shift_Del	DEL	T	T	-																															ttttccagtccatcatgtaaTtgttccagcgatggaatcct																										TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr3:165491240delT	ENST00000264381.3	-	4	1905	c.1739delA	c.(1738-1740)atfs	p.N580fs	BCHE_ENST00000540653.1_Frame_Shift_Del_p.N42fs	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	580					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	CATCATGTAATTGTTCCAGCG	0.313													13	7	---	---	---	---						-	165491240	T	-	165491240	7	5	113	1	0	1	0	1	0	0	0	0	1356	1493	52	0	73	0	BCHE	3	165491240	Frame_Shift_Del	DEL	T	TCGA-FC-A5OB-01A-11D-A29Q-08	145275436	165491240	32531190	5	5842											
EIF5A2	56648	broad.mit.edu	37	chr3	170624851	170624851	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaatatcttcatattttttgCccgtgaaaatatcaattcca	14	16	3	8	1	3	1	2	1	1	0	4	1	4	1	2	0	1	0	2	0	7	8			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr3:170624851C>T	ENST00000295822.2	-	3	382	c.197G>A	c.(196-198)gGc>gAc	p.G66D	EIF5A2_ENST00000460117.1_Intron|EIF5A2_ENST00000487522.1_Missense_Mutation_p.G66D|EIF5A2_ENST00000474096.1_Missense_Mutation_p.G66D	NM_020390.5	NP_065123.1	Q9GZV4	IF5A2_HUMAN	eukaryotic translation initiation factor 5A2	66					mRNA transport|peptidyl-lysine modification to hypusine|polyamine homeostasis|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein transport|spermatogenesis|translational frameshifting|transmembrane transport	cytosol|endoplasmic reticulum membrane|nuclear pore	protein binding|ribosome binding|translation elongation factor activity			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	3	all_cancers(22;1.61e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;9.8e-16)|Lung(28;4.28e-15)			ATATTTTTTGCCCGTGAAAAT	0.343													3	29					0	0	1	0	0	T	170624851	C	T	170624851	3	4	113	1	0	0	0	0	1	0	0	0	5070	739	26	2	276	2	EIF5A2	3	170624851	Missense_Mutation	SNP	C	TCGA-FC-A5OB-01A-11D-A29Q-08	5133611	170624851	27397579	6	5843											
KLHL24	54800	broad.mit.edu	37	chr3	183368748	183368748	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgaggatgtatcccagcacGaagaatttcttgagcttgac	11	12	10	8	1	1	4	0	3	1	1	2	6	2	5	1	1	2	3	1	1	3	5			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr3:183368748G>A	ENST00000454652.1	+	4	990	c.604G>A	c.(604-606)Gaa>Aaa	p.E202K	KLHL24_ENST00000242810.6_Missense_Mutation_p.E202K|KLHL24_ENST00000476808.1_Missense_Mutation_p.E202K			Q6TFL4	KLH24_HUMAN	kelch-like family member 24	202	BACK.					axon|cytoplasm|perikaryon				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			ATCCCAGCACGAAGAATTTCT	0.378													4	86					0	0	1	0	0	A	183368748	G	A	183368748	3	1	113	1	0	0	0	0	1	0	0	0	8422	1059	37	1	606	1	KLHL24	3	183368748	Missense_Mutation	SNP	G	TCGA-FC-A5OB-01A-11D-A29Q-08	12743897	183368748	14653682	7	5844											
RANBP17	64901	broad.mit.edu	37	chr5	170640699	170640699	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtatggagagccaacatgtAcaactcccatcttgaaactt	13	10	8	10	0	1	2	0	1	1	1	2	3	2	2	2	2	5	2	2	2	5	4	rs148262159		TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr5:170640699A>G	ENST00000523189.1	+	21	2460	c.2296A>G	c.(2296-2298)Aca>Gca	p.T766A	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	766					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCCAACATGTACAACTCCCAT	0.418			T	TRD@	ALL								47	63					0	0	1	0	0	G	170640699	A	G	170640699	3	3	113	1	0	0	0	0	1	0	0	0	13079	391	14	3	2378	3	RANBP17	5	170640699	Missense_Mutation	SNP	A	TCGA-FC-A5OB-01A-11D-A29Q-08		170640699	10274561	8	5845											
MUC21	394263	broad.mit.edu	37	chr6	30954349	30954349	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacaccctccagtggggccAgcacagccaccaactctgac	10	4	9	18	0	1	1	0	1	1	0	2	1	2	1	5	2	3	2	5	2	1	0			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr6:30954349A>G	ENST00000376296.3	+	2	638	c.397A>G	c.(397-399)Agc>Ggc	p.S133G	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	133	28 X 15 AA approximate tandem repeats.|Ser-rich.					integral to membrane|plasma membrane				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CAGTGGGGCCAGCACAGCCAC	0.612													5	338					0	0	1	0	0	G	30954349	A	G	30954349	3	3	113	1	0	0	0	0	1	0	0	0	10025	188	7	3	403	3	MUC21	6	30954349	Missense_Mutation	SNP	A	TCGA-FC-A5OB-01A-11D-A29Q-08		30954349	140160718	9	5846											
DNAH8	1769	broad.mit.edu	37	chr6	38820472	38820472	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttcctctgtcttacagccGcatctccctgcagtatctga	6	15	6	14	1	4	1	0	1	4	0	6	1	5	1	3	0	3	3	3	0	2	4	rs61757626		TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr6:38820472G>A	ENST00000359357.3	+	38	5072	c.4818G>A	c.(4816-4818)ccG>ccA	p.P1606P	DNAH8_ENST00000449981.2_Silent_p.P1823P|DNAH8_ENST00000441566.1_Silent_p.P1606P					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TCTTACAGCCGCATCTCCCTG	0.393													3	44					0	0	1	0	0	A	38820472	G	A	38820472	2	1	113	1	0	0	0	0	0	0	0	1	4634	1074	38	1		1	DNAH8	6	38820472	Silent	SNP	G	TCGA-FC-A5OB-01A-11D-A29Q-08	7866123	38820472	132294595	10	5847											
PAQR8	85315	broad.mit.edu	37	chr6	52268580	52268580	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgccttctgtggctggttatCttgtgctggctgttgctatg	2	18	13	8	0	2	0	0	0	2	0	2	0	2	0	1	3	3	6	1	3	2	5			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr6:52268580C>G	ENST00000442253.2	+	2	743	c.569C>G	c.(568-570)tCt>tGt	p.S190C	PAQR8_ENST00000360726.3_Missense_Mutation_p.S190C	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	190					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					GGCTGGTTATCTTGTGCTGGC	0.512													4	86					0	0	1	0	0	G	52268580	C	G	52268580	3	3	113	1	0	0	0	0	1	0	0	0	11488	913	32	4	571	4	PAQR8	6	52268580	Missense_Mutation	SNP	C	TCGA-FC-A5OB-01A-11D-A29Q-08	13448108	52268580	118846487	11	5848			1	16		5	5	310	C		1.978634e-15
PAQR8	85315	broad.mit.edu	37	chr6	52268632	52268632	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taccggaggccttatccagtCatgaggaagatctgtcaagt	11	10	11	9	1	3	2	2	1	1	1	4	4	4	4	3	3	1	0	3	3	4	2			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr6:52268632C>T	ENST00000442253.2	+	2	795	c.621C>T	c.(619-621)gtC>gtT	p.V207V	PAQR8_ENST00000360726.3_Silent_p.V207V	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	207					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding	p.V207V(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					CTTATCCAGTCATGAGGAAGA	0.547													5	83					0	0	1	0	0	T	52268632	C	T	52268632	2	4	113	1	0	0	0	0	0	0	0	1	11488	813	29	2		2	PAQR8	6	52268632	Silent	SNP	C	TCGA-FC-A5OB-01A-11D-A29Q-08	52	52268632	118846435	12	5849			1	16		5	5	310	C		1.978634e-15
PAQR8	85315	broad.mit.edu	37	chr6	52268717	52268717	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacaccgtgtggcgctctgtCacctggctggctgccaggag	5	8	14	14	2	2	0	1	0	1	0	2	1	2	1	3	4	1	3	3	4	0	0			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr6:52268717C>T	ENST00000442253.2	+	2	880	c.706C>T	c.(706-708)Cac>Tac	p.H236Y	PAQR8_ENST00000360726.3_Missense_Mutation_p.H236Y	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	236					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					GGCGCTCTGTCACCTGGCTGG	0.567													5	63					0	0	1	0	0	T	52268717	C	T	52268717	3	4	113	1	0	0	0	0	1	0	0	0	11488	826	29	2	708	2	PAQR8	6	52268717	Missense_Mutation	SNP	C	TCGA-FC-A5OB-01A-11D-A29Q-08	85	52268717	118846350	13	5850			1	16		5	5	310	C		1.978634e-15
PAQR8	85315	broad.mit.edu	37	chr6	52268842	52268842	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccgggttcctgtgacatCgtgggccatgggcatcagat	6	11	13	11	2	1	2	1	1	0	1	4	2	3	2	3	3	0	2	3	3	0	2	rs34615735	byFrequency	TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr6:52268842C>A	ENST00000442253.2	+	2	1005	c.831C>A	c.(829-831)atC>atA	p.I277I	PAQR8_ENST00000360726.3_Silent_p.I277I	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	277					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					CCTGTGACATCGTGGGCCATG	0.572													5	68					0.217242	0.217242	1	1	0	A	52268842	C	A	52268842	2	1	113	1	0	0	0	0	0	0	0	1	11488	874	31	4		4	PAQR8	6	52268842	Silent	SNP	C	TCGA-FC-A5OB-01A-11D-A29Q-08	125	52268842	118846225	14	5851			1	16		5	5	310	C		1.978634e-15
PAQR8	85315	broad.mit.edu	37	chr6	52268889	52268889	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcatttctgtccatctgtaCgctctcccagctggaggcca	6	12	9	14	1	3	0	0	0	3	0	5	1	4	1	3	2	3	4	3	2	1	2			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr6:52268889C>T	ENST00000442253.2	+	2	1052	c.878C>T	c.(877-879)aCg>aTg	p.T293M	PAQR8_ENST00000360726.3_Missense_Mutation_p.T293M	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	293					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					TCCATCTGTACGCTCTCCCAG	0.587													5	56					0	0	1	0	0	T	52268889	C	T	52268889	3	4	113	1	0	0	0	0	1	0	0	0	11488	536	19	1	880	1	PAQR8	6	52268889	Missense_Mutation	SNP	C	TCGA-FC-A5OB-01A-11D-A29Q-08	47	52268889	118846178	15	5852			1	16		5	5	310	C		1.978634e-15
TINAG	27283	broad.mit.edu	37	chr6	54186159	54186159	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgttcgttcagaattaattGaacaggtcaataaaggagac	15	12	9	5	1	2	3	2	1	0	2	3	4	2	3	0	2	1	2	0	2	6	6			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr6:54186159G>T	ENST00000259782.4	+	3	580	c.484G>T	c.(484-486)Gaa>Taa	p.E162*	TINAG_ENST00000370869.3_Nonsense_Mutation_p.E158*|TINAG_ENST00000486436.1_3'UTR|TINAG_ENST00000370864.3_Nonsense_Mutation_p.E144*	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	162					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			AGAATTAATTGAACAGGTCAA	0.398													3	32					0.00909568	0.00938909	1	1	0	T	54186159	G	T	54186159	4	4	113	1	0	0	0	0	0	1	0	0	15981	1291	45	4	494	4	TINAG	6	54186159	Nonsense_Mutation	SNP	G	TCGA-FC-A5OB-01A-11D-A29Q-08	1917270	54186159	116928908	16	5853											
PTPN12	0	broad.mit.edu	37	chr7	77221501	77221502	+	Splice_Site	INS	-	-	A																															tttttttttttggatgacagINSaaaaaatgtgagcgctattg																										TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr7:77221501_77221502insA	ENST00000248594.6	+	6	692_693		c.e6-1		PTPN12_ENST00000415482.2_Splice_Site|PTPN12_ENST00000435495.2_Splice_Site	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12							soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						TTGGATGACAGAAAAAATGTGA	0.317													27	53	---	---	---	---						A	77221502	-	A	77221501	8	5	113	1	0	1	1	0	0	0	1	0	12831	956	33	0	442	0	PTPN12	7	77221501	Splice_Site	INS	-	TCGA-FC-A5OB-01A-11D-A29Q-08		77221501	81917162	17	5854											
OR2AE1	81392	broad.mit.edu	37	chr7	99474462	99474462	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcagatccatgagggagagCtggctgagcaggaaatacat	14	7	13	7	0	1	4	1	2	0	2	2	6	2	5	1	3	3	3	1	3	2	1			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr7:99474462C>T	ENST00000316368.2	-	1	218	c.195G>A	c.(193-195)caG>caA	p.Q65Q		NM_001005276.1	NP_001005276.1	Q8NHA4	O2AE1_HUMAN	olfactory receptor, family 2, subfamily AE, member 1	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					TGAGGGAGAGCTGGCTGAGCA	0.488													26	37					0	0	1	0	0	T	99474462	C	T	99474462	2	4	113	1	0	0	0	0	0	0	0	1	11031	796	28	2		2	OR2AE1	7	99474462	Silent	SNP	C	TCGA-FC-A5OB-01A-11D-A29Q-08	22252961	99474462	59664201	18	5855											
TSGA13	114960	broad.mit.edu	37	chr7	130357704	130357704	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttctcagtgggtttgtgctGatgatgactttcctgtaggg	5	16	14	6	0	1	3	1	3	1	0	3	3	2	3	1	2	1	4	1	2	1	4			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr7:130357704G>A	ENST00000456951.1	-	7	1251	c.400C>T	c.(400-402)Cag>Tag	p.Q134*	TSGA13_ENST00000356588.3_Nonsense_Mutation_p.Q134*			Q96PP4	TSG13_HUMAN	testis specific, 13	134										endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					GGTTTGTGCTGATGATGACTT	0.463													4	37					0	0	1	0	0	A	130357704	G	A	130357704	4	1	113	1	0	0	0	0	0	1	0	0	16680	1299	45	2	439	2	TSGA13	7	130357704	Nonsense_Mutation	SNP	G	TCGA-FC-A5OB-01A-11D-A29Q-08	30883242	130357704	28780959	19	5856											
GLIS3	169792	broad.mit.edu	37	chr9	3828281	3828281	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagagagcttttagccttcGgtgtagacagaggagagctg	11	9	14	7	1	0	4	0	0	0	4	1	6	0	4	1	2	3	3	1	2	3	4			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr9:3828281G>A	ENST00000324333.10	-	10	2512	c.2319C>T	c.(2317-2319)acC>acT	p.T773T	GLIS3_ENST00000461870.1_5'UTR|GLIS3_ENST00000381971.3_Silent_p.T928T	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	773					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		TTTAGCCTTCGGTGTAGACAG	0.552													3	56					0	0	1	0	0	A	3828281	G	A	3828281	2	1	113	1	0	0	0	0	0	0	0	1	6489	1103	39	1		1	GLIS3	9	3828281	Silent	SNP	G	TCGA-FC-A5OB-01A-11D-A29Q-08		3828281	137385150	20	5857											
BARHL1	56751	broad.mit.edu	37	chr9	135458234	135458234	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccattctctcccaccgcgCgggcagccccgcccttccca	4	7	7	23	4	1	0	0	0	1	0	5	0	4	0	7	1	1	1	7	1	0	2	rs141976331	byFrequency	TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr9:135458234C>T	ENST00000263610.2	+	1	663	c.50C>T	c.(49-51)gCg>gTg	p.A17V	BARHL1_ENST00000542090.1_Missense_Mutation_p.A17V	NM_020064.3	NP_064448.1	Q9BZE3	BARH1_HUMAN	BarH-like homeobox 1	17						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(2)|lung(2)|skin(3)	8				OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)		TCCCACCGCGCGGGCAGCCCC	0.662													4	107					0	0	1	0	0	T	135458234	C	T	135458234	3	4	113	1	0	0	0	0	1	0	0	0	1311	768	27	1	52	1	BARHL1	9	135458234	Missense_Mutation	SNP	C	TCGA-FC-A5OB-01A-11D-A29Q-08	131629953	135458234	5755197	21	5858											
CAMSAP1	157922	broad.mit.edu	37	chr9	138714198	138714198	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtcctcctgcagtttggccGactcttcctccccaatgtat	5	14	7	15	1	1	0	0	0	1	0	5	1	5	0	6	1	1	3	6	1	2	3			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr9:138714198G>A	ENST00000389532.4	-	11	2373	c.2309C>T	c.(2308-2310)tCg>tTg	p.S770L	CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.S781L|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.S492L	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	770						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		CAGTTTGGCCGACTCTTCCTC	0.557													4	153					0	0	1	0	0	A	138714198	G	A	138714198	3	1	113	1	0	0	0	0	1	0	0	0	2629	1059	37	1	2527	1	CAMSAP1	9	138714198	Missense_Mutation	SNP	G	TCGA-FC-A5OB-01A-11D-A29Q-08	3255964	138714198	2499233	22	5859											
AGAP11	119385	broad.mit.edu	37	chr10	88768854	88768854	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tatgattgtgtccgtcactgGccaaacgtgccactttaaag	10	12	9	10	2	1	1	1	1	0	0	2	1	2	1	3	1	2	0	3	1	4	4			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr10:88768854G>A	ENST00000444431.1	+	0	3454				RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										TCCGTCACTGGCCAAACGTGC	0.507													5	194					0	0	1	0	0	A	88768854	G	A	88768854	1	1	113	0	1	0	0	0	0	0	0	0	366	1203	42	2		2	AGAP11	10	88768854	RNA	SNP	G	TCGA-FC-A5OB-01A-11D-A29Q-08		88768854	46765893	23	5860											
FAT3	120114	broad.mit.edu	37	chr11	92577146	92577146	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttctcacacttacatccGcgtgcgagtcattgaggaaa	11	11	9	10	3	2	1	2	1	1	0	4	3	3	2	1	1	2	1	1	1	2	3			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr11:92577146G>A	ENST00000298047.6	+	18	10630	c.10613G>A	c.(10612-10614)cGc>cAc	p.R3538H	FAT3_ENST00000525166.1_Missense_Mutation_p.R3388H|FAT3_ENST00000409404.2_Missense_Mutation_p.R3538H			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3538	Cadherin 32.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACTTACATCCGCGTGCGAGTC	0.468										TCGA Ovarian(4;0.039)			10	237					0	0	1	0	0	A	92577146	G	A	92577146	3	1	113	1	0	0	0	0	1	0	0	0	5724	1087	38	1	10683	1	FAT3	11	92577146	Missense_Mutation	SNP	G	TCGA-FC-A5OB-01A-11D-A29Q-08		92577146	42429370	24	5861											
VWA5A	4013	broad.mit.edu	37	chr11	124016065	124016065	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtggcctggatgcgtgcccAtgcaggtaggagcacaatcc	8	7	14	12	2	0	0	0	0	0	0	1	2	1	2	3	4	4	3	3	4	2	1			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr11:124016065A>G	ENST00000456829.2	+	18	2527	c.2276A>G	c.(2275-2277)cAt>cGt	p.H759R	VWA5A_ENST00000360334.4_3'UTR|VWA5A_ENST00000392748.1_Missense_Mutation_p.H759R	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	759			H -> R.					p.H759R(1)		autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						ATGCGTGCCCATGCAGGTAGG	0.587													33	33					0	0	1	0	0	G	124016065	A	G	124016065	3	3	113	1	0	0	0	0	1	0	0	0	17302	217	8	3	2342	3	VWA5A	11	124016065	Missense_Mutation	SNP	A	TCGA-FC-A5OB-01A-11D-A29Q-08	31438919	124016065	10990451	25	5862											
IGSF9B	22997	broad.mit.edu	37	chr11	133814172	133814172	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtgtcatactgctggtccaGcatgagcactttgcactcat	8	12	10	11	0	2	1	2	1	0	0	3	1	3	1	1	2	5	4	1	2	1	2			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr11:133814172G>A	ENST00000321016.8	-	3	582	c.352C>T	c.(352-354)Ctg>Ttg	p.L118L	IGSF9B_ENST00000533871.2_Silent_p.L118L			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	118	Ig-like 1.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		TGCTGGTCCAGCATGAGCACT	0.577													3	33					0	0	1	0	0	A	133814172	G	A	133814172	2	1	113	1	0	0	0	0	0	0	0	1	7650	962	34	2		2	IGSF9B	11	133814172	Silent	SNP	G	TCGA-FC-A5OB-01A-11D-A29Q-08	9798107	133814172	1192344	26	5863											
NACA	4666	broad.mit.edu	37	chr12	57112272	57112272	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctttgggggagggaggagtCacagctgggggtgtgggggc	5	7	23	6	0	1	0	1	0	0	0	1	3	1	3	1	8	1	1	1	8	0	1			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr12:57112272C>T	ENST00000454682.1	-	3	3323	c.3042G>A	c.(3040-3042)gtG>gtA	p.V1014V	NACA_ENST00000548563.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000552540.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						AGGGAGGAGTCACAGCTGGGG	0.657			T	BCL6	NHL								4	116					0	0	1	0	0	T	57112272	C	T	57112272	2	4	113	1	0	0	0	0	0	0	0	1	10181	813	29	2		2	NACA	12	57112272	Silent	SNP	C	TCGA-FC-A5OB-01A-11D-A29Q-08		57112272	76739623	27	5864											
SRGAP1	57522	broad.mit.edu	37	chr12	64491035	64491035	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttttaggtgaaaatcctttgGctgatgaccagagtaaccat	12	13	9	7	0	0	4	0	3	0	1	1	4	1	4	3	2	1	2	3	2	4	4			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr12:64491035G>A	ENST00000355086.3	+	15	2217	c.1693G>A	c.(1693-1695)Gct>Act	p.A565T	SRGAP1_ENST00000357825.3_Missense_Mutation_p.A542T|SRGAP1_ENST00000543397.1_Missense_Mutation_p.A502T|RP11-196H14.2_ENST00000535594.1_RNA	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	565	Rho-GAP.				axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		AAATCCTTTGGCTGATGACCA	0.353													6	38					0	0	1	0	0	A	64491035	G	A	64491035	3	1	113	1	0	0	0	0	1	0	0	0	15201	1203	42	2	1751	2	SRGAP1	12	64491035	Missense_Mutation	SNP	G	TCGA-FC-A5OB-01A-11D-A29Q-08	7378763	64491035	69360860	28	5865											
NUAK1	9891	broad.mit.edu	37	chr12	106500261	106500261	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgatgtgaaccatgtcttGttcatccttaattttgtcct	7	19	6	9	0	3	2	1	2	2	0	5	2	5	2	3	0	1	1	3	0	2	5			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr12:106500261G>C	ENST00000261402.2	-	2	1662	c.283C>G	c.(283-285)Caa>Gaa	p.Q95E		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	95	Protein kinase.						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						ACCATGTCTTGTTCATCCTTA	0.338													3	42					0	0	1	0	0	C	106500261	G	C	106500261	3	2	113	1	0	0	0	0	1	0	0	0	10760	1386	48	4	1726	4	NUAK1	12	106500261	Missense_Mutation	SNP	G	TCGA-FC-A5OB-01A-11D-A29Q-08	42009226	106500261	27351634	29	5866											
RIMBP2	23504	broad.mit.edu	37	chr12	130919341	130919341	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgcccctcctcttgaagtCtggagagtcataggcgtcct	6	10	12	13	2	3	2	1	1	2	1	5	3	5	2	4	3	0	0	4	3	2	2			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr12:130919341C>A	ENST00000261655.4	-	11	2303	c.2140G>T	c.(2140-2142)Gac>Tac	p.D714Y	RIMBP2_ENST00000536002.1_Missense_Mutation_p.D622Y|RIMBP2_ENST00000535703.1_Missense_Mutation_p.D622Y	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	714						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CTCTTGAAGTCTGGAGAGTCA	0.597													7	159					0.0381472	0.0387527	1	1	0	A	130919341	C	A	130919341	3	1	113	1	0	0	0	0	1	0	0	0	13413	913	32	4	1054	4	RIMBP2	12	130919341	Missense_Mutation	SNP	C	TCGA-FC-A5OB-01A-11D-A29Q-08	24419080	130919341	2932554	30	5867											
SLC10A2	6555	broad.mit.edu	37	chr13	103701637	103701637	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgggattggcatgattccttAcatcctaagaatattgcggc	10	13	10	8	1	0	2	0	1	0	1	2	3	2	3	2	3	2	1	2	3	4	6			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr13:103701637A>G	ENST00000245312.3	-	5	1516		c.e5+1			NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2						bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					ATGATTCCTTACATCCTAAGA	0.423													4	96					0	0	1	0	0	G	103701637	A	G	103701637	5	3	113	1	0	0	0	0	0	0	1	0	14429	405	14	3	133	3	SLC10A2	13	103701637	Splice_Site	SNP	A	TCGA-FC-A5OB-01A-11D-A29Q-08		103701637	11468241	31	5868											
AHNAK2	113146	broad.mit.edu	37	chr14	105414144	105414144	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccctctgggagtttcacGtccacttggccagcctggac	5	9	13	14	1	2	0	1	0	1	0	3	2	3	2	4	4	1	1	4	4	0	2			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr14:105414144G>A	ENST00000333244.5	-	7	7763	c.7644C>T	c.(7642-7644)gaC>gaT	p.D2548D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2548						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGAGTTTCACGTCCACTTGGC	0.637													5	310					0	0	1	0	0	A	105414144	G	A	105414144	2	1	113	1	0	0	0	0	0	0	0	1	412	1136	40	1		1	AHNAK2	14	105414144	Silent	SNP	G	TCGA-FC-A5OB-01A-11D-A29Q-08		105414144	1935396	32	5869											
HERC2	8924	broad.mit.edu	37	chr15	28359926	28359926	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgtctcggatgtacatgagtCcaggaataaaatccttatca	13	12	8	8	1	2	1	1	1	1	0	5	3	4	3	2	2	1	1	2	2	5	3			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr15:28359926C>T	ENST00000261609.7	-	90	13853	c.13745G>A	c.(13744-13746)gGa>gAa	p.G4582E		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4582	HECT.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GTACATGAGTCCAGGAATAAA	0.502													13	61					0	0	1	0	0	T	28359926	C	T	28359926	3	4	113	1	0	0	0	0	1	0	0	0	7099	855	30	2	775	2	HERC2	15	28359926	Missense_Mutation	SNP	C	TCGA-FC-A5OB-01A-11D-A29Q-08		28359926	74171466	33	5870											
FMN1	342184	broad.mit.edu	37	chr15	33261413	33261413	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggagatattcagctttttgGgtactaattgattacttctg	10	17	9	5	0	2	2	1	1	1	1	2	3	2	2	0	2	3	2	0	2	4	9			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr15:33261413G>T	ENST00000334528.9	-	4	1819	c.1820C>A	c.(1819-1821)cCc>cAc	p.P607H	FMN1_ENST00000561249.1_Missense_Mutation_p.P732H|FMN1_ENST00000559047.1_Missense_Mutation_p.P830H	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN	formin 1	830	Mediates interaction with alpha-catenin (By similarity).|Microtubule-binding (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CAGCTTTTTGGGTACTAATTG	0.468													99	133					3.77759e-48	4.02943e-48	1	1	0	T	33261413	G	T	33261413	3	4	113	1	0	0	0	0	1	0	0	0	5982	1232	43	4	1826	4	FMN1	15	33261413	Missense_Mutation	SNP	G	TCGA-FC-A5OB-01A-11D-A29Q-08	4901487	33261413	69269979	34	5871											
BUB1B	701	broad.mit.edu	37	chr15	40501921	40501921	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaagtgcctctgcagagttGtgtatagaagacagaccaat	13	11	10	7	0	1	4	0	0	1	4	1	4	1	4	2	0	2	3	2	0	5	4			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr15:40501921G>A	ENST00000287598.6	+	17	2424	c.2229G>A	c.(2227-2229)ttG>ttA	p.L743L	BUB1B_ENST00000412359.3_Silent_p.L757L	NM_001211.5	NP_001202.4	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	743					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		CTGCAGAGTTGTGTATAGAAG	0.448			"Mis, N, F, S"			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				39	61					0	0	1	0	0	A	40501921	G	A	40501921	2	1	113	1	0	0	0	0	0	0	0	1	1574	1368	48	2		2	BUB1B	15	40501921	Silent	SNP	G	TCGA-FC-A5OB-01A-11D-A29Q-08	7240508	40501921	62029471	35	5872											
PTX4	390667	broad.mit.edu	37	chr16	1537738	1537738	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcgcccagggtgaggtcCaaggcccgcagccgcgtgtc	5	6	14	16	4	1	1	0	1	1	0	4	1	2	1	4	3	1	1	4	3	1	0			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr16:1537738C>T	ENST00000447419.2	-	2	400	c.375G>A	c.(373-375)ttG>ttA	p.L125L	PTX4_ENST00000440447.2_Intron|PTX4_ENST00000293922.1_Silent_p.L120L			Q96A99	PTX4_HUMAN	pentraxin 4, long	125						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						GGGTGAGGTCCAAGGCCCGCA	0.701													33	49					0	0	1	0	0	T	1537738	C	T	1537738	2	4	113	1	0	0	0	0	0	0	0	1	12875	593	21	2		2	PTX4	16	1537738	Silent	SNP	C	TCGA-FC-A5OB-01A-11D-A29Q-08		1537738	88817015	36	5873											
NXN	64359	broad.mit.edu	37	chr17	722762	722762	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccagggcatctcactgaagTactgtttgaaggactcctcc	9	10	10	12	0	1	2	1	2	1	0	4	3	3	3	3	2	1	3	3	2	3	2			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr17:722762T>C	ENST00000336868.3	-	5	828	c.737A>G	c.(736-738)tAc>tGc	p.Y246C	NXN_ENST00000537628.2_5'UTR|NXN_ENST00000538650.1_5'UTR|NXN_ENST00000575801.1_Missense_Mutation_p.Y138C	NM_022463.4	NP_071908.2	Q6DKJ4	NXN_HUMAN	nucleoredoxin	246	Thioredoxin.				cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway	cytosol|nucleus	protein-disulfide reductase activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		CTCACTGAAGTACTGTTTGAA	0.632													29	66					0	0	1	0	0	C	722762	T	C	722762	3	2	113	1	0	0	0	0	1	0	0	0	10835	1638	57	3	586	3	NXN	17	722762	Missense_Mutation	SNP	T	TCGA-FC-A5OB-01A-11D-A29Q-08		722762	80472448	37	5874											
TEKT3	64518	broad.mit.edu	37	chr17	15207265	15207265	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggggtccctagcagaagccGaccagccggagggtgttggg	7	6	18	10	2	0	1	0	0	0	1	1	3	1	2	4	5	3	2	4	5	2	2	rs1047882		TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr17:15207265G>A	ENST00000395930.1	-	9	1647	c.1461C>T	c.(1459-1461)gtC>gtT	p.V487V	TEKT3_ENST00000338696.2_Silent_p.V487V|TEKT3_ENST00000462175.1_5'UTR	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	487					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		AGCAGAAGCCGACCAGCCGGA	0.527													28	46					0	0	1	0	0	A	15207265	G	A	15207265	2	1	113	1	0	0	0	0	0	0	0	1	15813	1045	37	1		1	TEKT3	17	15207265	Silent	SNP	G	TCGA-FC-A5OB-01A-11D-A29Q-08	14484503	15207265	65987945	38	5875											
FKBP10	60681	broad.mit.edu	37	chr17	39974421	39974421	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acaaggaagacaccgtgcagGtgagcacattgctgcgcccg	11	5	13	12	3	0	2	0	1	0	1	0	3	0	3	2	2	4	3	2	2	2	1			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr17:39974421G>T	ENST00000321562.4	+	3	576	c.472G>T	c.(472-474)Gtg>Ttg	p.V158L		NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	158					protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		CACCGTGCAGGTGAGCACATT	0.622													27	28					2.44723e-14	2.56759e-14	1	1	0	T	39974421	G	T	39974421	3	4	113	1	0	0	0	0	1	0	0	0	5935	1261	44	4	482	4	FKBP10	17	39974421	Missense_Mutation	SNP	G	TCGA-FC-A5OB-01A-11D-A29Q-08	24767156	39974421	41220789	39	5876											
FDXR	2232	broad.mit.edu	37	chr17	72858969	72858969	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaggcgcagcatctcctgAggatccaccagcttctccct	8	8	10	15	1	2	1	0	1	2	0	5	3	3	3	4	3	2	3	4	3	0	1			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr17:72858969A>C	ENST00000442102.2	-	12	1661	c.1575T>G	c.(1573-1575)ccT>ccG	p.P525P	FDXR_ENST00000583917.1_Silent_p.P454P|FDXR_ENST00000413947.2_Silent_p.P513P|FDXR_ENST00000544854.1_Silent_p.P430P|FDXR_ENST00000455107.2_3'UTR|FDXR_ENST00000420580.2_Silent_p.P442P|FDXR_ENST00000581530.1_Silent_p.P488P|FDXR_ENST00000293195.5_Silent_p.P482P|FDXR_ENST00000582944.1_Silent_p.P474P	NM_001258012.1	NP_001244941.1	P22570	ADRO_HUMAN	ferredoxin reductase	482					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)					GCATCTCCTGAGGATCCACCA	0.692													5	68					0	0	1	0	0	C	72858969	A	C	72858969	2	2	113	1	0	0	0	0	0	0	0	1	5840	291	11	5		5	FDXR	17	72858969	Silent	SNP	A	TCGA-FC-A5OB-01A-11D-A29Q-08	32884548	72858969	8336241	40	5877											
CRLF1	9244	broad.mit.edu	37	chr19	18704899	18704899	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccgtgccccgtctgcccgAgggcaggatcccctcgtcct	3	7	12	19	5	1	0	0	0	1	0	4	2	3	1	7	2	2	1	7	2	0	0			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr19:18704899A>G	ENST00000392386.3	-	8	1424	c.1231T>C	c.(1231-1233)Tcg>Ccg	p.S411P	CRLF1_ENST00000594325.1_Intron	NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	411					negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						CGTCTGCCCGAGGGCAGGATC	0.662													4	7					0	0	1	0	0	G	18704899	A	G	18704899	3	3	113	1	0	0	0	0	1	0	0	0	3909	304	11	3	45	3	CRLF1	19	18704899	Missense_Mutation	SNP	A	TCGA-FC-A5OB-01A-11D-A29Q-08		18704899	40424084	41	5878											
ZNF714	148206	broad.mit.edu	37	chr19	21299769	21299769	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgagtgtaaggtgtacaaaaAaggttatgaactaaaccagt	17	10	10	4	0	0	2	0	2	0	0	0	2	0	2	1	2	3	3	1	2	9	4			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr19:21299769A>T	ENST00000596143.1	+	5	624	c.299A>T	c.(298-300)aAa>aTa	p.K100I	ZNF714_ENST00000291770.7_3'UTR|ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000596053.1_Intron	NM_182515.3	NP_872321.2	Q96N38	ZN714_HUMAN	zinc finger protein 714	100					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						GTGTACAAAAAAGGTTATGAA	0.318													13	27					0	0	1	0	0	T	21299769	A	T	21299769	3	4	113	1	0	0	0	0	1	0	0	0	18174	14	1	5	309	5	ZNF714	19	21299769	Missense_Mutation	SNP	A	TCGA-FC-A5OB-01A-11D-A29Q-08	2594870	21299769	37829214	42	5879											
MAG	4099	broad.mit.edu	37	chr19	35793406	35793406	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggccgtagagggggagacGgtctctatcttgtgctccac	6	10	15	10	2	2	2	0	0	2	2	4	3	3	2	2	4	1	2	2	4	2	3			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr19:35793406G>A	ENST00000361922.4	+	7	1176	c.1026G>A	c.(1024-1026)acG>acA	p.T342T	MAG_ENST00000392213.3_Silent_p.T342T|MAG_ENST00000537831.2_Silent_p.T317T	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	myelin associated glycoprotein	342	Ig-like C2-type 3.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			AGGGGGAGACGGTCTCTATCT	0.577													27	47					0	0	1	0	0	A	35793406	G	A	35793406	2	1	113	1	0	0	0	0	0	0	0	1	9208	1103	39	1		1	MAG	19	35793406	Silent	SNP	G	TCGA-FC-A5OB-01A-11D-A29Q-08	14493637	35793406	23335577	43	5880											
TNFRSF6B	8771	broad.mit.edu	37	chr20	62328731	62328731	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgccccccaggcaccttcTcagccagcagctccagctca	7	6	8	20	1	2	0	2	0	1	0	4	0	3	0	6	1	5	4	6	1	0	1			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr20:62328731T>A	ENST00000369996.1	+	2	575	c.475T>A	c.(475-477)Tca>Aca	p.S159T	RTEL1-TNFRSF6B_ENST00000482936.1_3'UTR	NM_003823.3	NP_003814.1	O95407	TNF6B_HUMAN	tumor necrosis factor receptor superfamily, member 6b, decoy	159					anti-apoptosis|apoptosis	extracellular region|soluble fraction	protein binding|receptor activity			central_nervous_system(1)|lung(2)|skin(1)	4	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)			AGGCACCTTCTCAGCCAGCAG	0.662													11	22					0	0	1	0	0	A	62328731	T	A	62328731	3	1	113	1	0	0	0	0	1	0	0	0	16358	1551	54	5	481	5	TNFRSF6B	20	62328731	Missense_Mutation	SNP	T	TCGA-FC-A5OB-01A-11D-A29Q-08		62328731	696789	44	5881											
SSTR3	0	broad.mit.edu	37	chr22	37602836	37602836	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccacagtgggctcctggctgCgcacacggcgggagggccgc	5	4	17	15	4	0	0	0	0	0	0	1	1	1	1	3	5	1	3	3	5	0	0	rs143937169		TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chr22:37602836C>T	ENST00000328544.3	-	2	1540	c.1007G>A	c.(1006-1008)cGc>cAc	p.R336H	SSTR3_ENST00000402501.1_Missense_Mutation_p.R336H	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	336			R -> C (in dbSNP:rs4988469).		G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						CTCCTGGCTGCGCACACGGCG	0.657													34	68					0	0	1	0	0	T	37602836	C	T	37602836	3	4	113	1	0	0	0	0	1	0	0	0	15255	768	27	1	253	1	SSTR3	22	37602836	Missense_Mutation	SNP	C	TCGA-FC-A5OB-01A-11D-A29Q-08		37602836	13701730	45	5882											
CACNA1F	778	broad.mit.edu	37	chrX	49072961	49072961	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaggggccgtgacacgtcTccatctgggtataccaggaa	10	7	12	12	2	2	1	0	1	2	0	3	2	2	2	4	4	1	1	4	4	3	2			TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chrX:49072961T>G	ENST00000376265.2	-	27	3211	c.3150A>C	c.(3148-3150)ggA>ggC	p.G1050G	CACNA1F_ENST00000376251.1_Silent_p.G985G|CACNA1F_ENST00000323022.5_Silent_p.G1039G	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1050					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	GTGACACGTCTCCATCTGGGT	0.567													13	1					0	0	1	0	0	G	49072961	T	G	49072961	2	3	113	1	0	0	0	0	0	0	0	1	2561	1538	54	5		5	CACNA1F	23	49072961	Silent	SNP	T	TCGA-FC-A5OB-01A-11D-A29Q-08		49072961	106197599	46	5883											
NUDT10	170685	broad.mit.edu	37	chrX	51076024	51076024	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccgagaggtgtacgaagaGgcgggagtcaaggggaagtt	11	6	19	5	3	1	2	1	0	0	2	2	6	2	4	1	5	1	2	1	5	4	2	rs143435240	byFrequency	TCGA-FC-A5OB-01A-11D-A29Q-08	TCGA-FC-A5OB-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcaa1a41-14fc-43fa-b8d5-fe4b38c53b26	13d967a8-324f-4f11-a766-db89703af761	g.chrX:51076024G>A	ENST00000376006.3	+	2	427	c.207G>A	c.(205-207)gaG>gaA	p.E69E	NUDT10_ENST00000356450.2_Silent_p.E69E	NM_153183.2	NP_694853.1	Q8NFP7	NUD10_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	69	Nudix hydrolase.					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	p.E69E(8)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					TGTACGAAGAGGCGGGAGTCA	0.657													3	29					0	0	1	0	0	A	51076024	G	A	51076024	2	1	113	1	0	0	0	0	0	0	0	1	10774	991	35	2		2	NUDT10	23	51076024	Silent	SNP	G	TCGA-FC-A5OB-01A-11D-A29Q-08	2003063	51076024	104194536	47	5884											
HIST1H2BK	85236	broad.mit.edu	37	chr6	27114417	27114417	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccatggccttagaggagatgCcggtgtcggggtggacctgc	6	8	17	10	2	0	2	0	0	0	2	1	4	0	3	4	6	2	0	4	6	1	1			TCGA-FC-A66V-01A-21D-A30E-08	TCGA-FC-A66V-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0108ed61-8918-4ab9-b932-05cfd43ab22e	61d23977-669f-4308-8e10-682b9c3c969d	g.chr6:27114417C>T	ENST00000396891.4	-	1	202	c.161G>A	c.(160-162)gGc>gAc	p.G54D	HIST1H2BK_ENST00000356950.1_Missense_Mutation_p.G54D	NM_080593.2	NP_542160.1	O60814	H2B1K_HUMAN	histone cluster 1, H2bk	54					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						AGAGGAGATGCCGGTGTCGGG	0.582													5	293					0	0	1	0	0	T	27114417	C	T	27114417	3	4	114	1	0	0	0	0	1	0	0	0	7191	739	26	2	223	2	HIST1H2BK	6	27114417	Missense_Mutation	SNP	C	TCGA-FC-A66V-01A-21D-A30E-08		27114417	144000650	1	5885											
TMEM223	79064	broad.mit.edu	37	chr11	62559255	62559255	+	Frame_Shift_Del	DEL	G	G	-																															ccagaggctgcaccggaaccGggggccgggacacggctgcc																										TCGA-FC-A66V-01A-21D-A30E-08	TCGA-FC-A66V-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0108ed61-8918-4ab9-b932-05cfd43ab22e	61d23977-669f-4308-8e10-682b9c3c969d	g.chr11:62559255delG	ENST00000307366.7	-	1	238	c.212delC	c.(211-213)cgfs	p.P71fs	TMEM223_ENST00000525631.1_Frame_Shift_Del_p.P71fs	NM_001080501.2	NP_001073970.1	A0PJW6	TM223_HUMAN	transmembrane protein 223	71						integral to membrane											CACCGGAACCGGGGGCCGGGA	0.706													2	4	---	---	---	---						-	62559255	G	-	62559255	7	5	114	1	0	1	0	1	0	0	0	0	16206	1116	39	0	404	0	TMEM223	11	62559255	Frame_Shift_Del	DEL	G	TCGA-FC-A66V-01A-21D-A30E-08		62559255	72447261	2	5886											
ALDH3B1	221	broad.mit.edu	37	chr11	67782802	67782802	+	Frame_Shift_Del	DEL	G	G	-																															ggacacgctgcggcgactgcGggaggccttccacgcggggc																										TCGA-FC-A66V-01A-21D-A30E-08	TCGA-FC-A66V-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0108ed61-8918-4ab9-b932-05cfd43ab22e	61d23977-669f-4308-8e10-682b9c3c969d	g.chr11:67782802delG	ENST00000539229.1	+	2	151	c.35delG	c.(34-36)cgfs	p.R12fs	ALDH3B1_ENST00000007633.8_Frame_Shift_Del_p.R12fs|ALDH3B1_ENST00000434449.1_3'UTR|ALDH3B1_ENST00000342456.6_Frame_Shift_Del_p.R12fs|ALDH3B1_ENST00000316367.6_Frame_Shift_Del_p.R12fs	NM_001161473.1	NP_001154945.1	P43353	AL3B1_HUMAN	aldehyde dehydrogenase 3 family, member B1	12					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase									NADH(DB00157)	CGGCGACTGCGGGAGGCCTTC	0.687													2	4	---	---	---	---						-	67782802	G	-	67782802	7	5	114	1	0	1	0	1	0	0	0	0	496	1116	39	0	37	0	ALDH3B1	11	67782802	Frame_Shift_Del	DEL	G	TCGA-FC-A66V-01A-21D-A30E-08	5223547	67782802	67223714	3	5887											
FOXA1	3169	broad.mit.edu	37	chr14	38060702	38060702	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggcgggcaacgtagagccGtaaggcgagtattgcagtgc	9	7	16	9	4	0	1	0	0	0	1	0	2	0	1	1	3	4	5	1	3	4	4			TCGA-FC-A66V-01A-21D-A30E-08	TCGA-FC-A66V-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0108ed61-8918-4ab9-b932-05cfd43ab22e	61d23977-669f-4308-8e10-682b9c3c969d	g.chr14:38060702G>A	ENST00000250448.2	-	2	1348	c.1287C>T	c.(1285-1287)taC>taT	p.Y429Y	FOXA1_ENST00000540786.1_Silent_p.Y396Y|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	429					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		ACGTAGAGCCGTAAGGCGAGT	0.607													4	64					0	0	1	0	0	A	38060702	G	A	38060702	2	1	114	1	0	0	0	0	0	0	0	1	6022	1140	40	1		1	FOXA1	14	38060702	Silent	SNP	G	TCGA-FC-A66V-01A-21D-A30E-08		38060702	69288838	4	5888											
SLC12A3	0	broad.mit.edu	37	chr16	56938317	56938317	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccgcccagtcccttcggcAggtgaggctgaatgagattg	7	9	13	12	2	0	3	0	3	0	1	3	4	2	3	3	3	0	2	3	3	1	2			TCGA-FC-A66V-01A-21D-A30E-08	TCGA-FC-A66V-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0108ed61-8918-4ab9-b932-05cfd43ab22e	61d23977-669f-4308-8e10-682b9c3c969d	g.chr16:56938317A>G	ENST00000438926.2	+	25	2923	c.2894A>G	c.(2893-2895)cAg>cGg	p.Q965R	SLC12A3_ENST00000262502.5_Missense_Mutation_p.Q955R|SLC12A3_ENST00000566786.1_Missense_Mutation_p.Q964R|SLC12A3_ENST00000563236.1_Missense_Mutation_p.Q956R	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	956					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TCCCTTCGGCAGGTGAGGCTG	0.537													4	136					0	0	1	0	0	G	56938317	A	G	56938317	3	3	114	1	0	0	0	0	1	0	0	0	14439	188	7	3	2992	3	SLC12A3	16	56938317	Missense_Mutation	SNP	A	TCGA-FC-A66V-01A-21D-A30E-08		56938317	33416436	5	5889											
EMID1	129080	broad.mit.edu	37	chr22	29628273	29628273	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggccccccagggagccctggCcgggctggagctgtgggcac	4	4	18	15	1	0	0	0	0	0	0	0	2	0	2	5	6	2	3	5	6	0	0			TCGA-FC-A66V-01A-21D-A30E-08	TCGA-FC-A66V-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0108ed61-8918-4ab9-b932-05cfd43ab22e	61d23977-669f-4308-8e10-682b9c3c969d	g.chr22:29628273C>T	ENST00000334018.6	+	8	893	c.705C>T	c.(703-705)ggC>ggT	p.G235G	EMID1_ENST00000484039.1_3'UTR|EMID1_ENST00000404755.3_Silent_p.G235G|EMID1_ENST00000404820.3_Silent_p.G235G	NM_001267895.1|NM_133455.3	NP_001254824.1|NP_597712.2	Q96A84	EMID1_HUMAN	EMI domain containing 1	233	Collagen-like.					collagen				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						GGAGCCCTGGCCGGGCTGGAG	0.697													4	69					0	0	1	0	0	T	29628273	C	T	29628273	2	4	114	1	0	0	0	0	0	0	0	1	5119	726	26	2		2	EMID1	22	29628273	Silent	SNP	C	TCGA-FC-A66V-01A-21D-A30E-08		29628273	21676293	6	5890											
POU3F1	5453	broad.mit.edu	37	chr1	38512169	38512171	+	In_Frame_Del	DEL	CGC	CGC	-																															gtgcgggccgccggcccaatCgccgccgccgcctcctcccg																										TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr1:38512169_38512171delCGC	ENST00000373012.2	-	1	279_281	c.245_247delGCG	c.(244-249)gat>g	p.GD82del		NM_002699.3	NP_002690.3	Q03052	PO3F1_HUMAN	POU class 3 homeobox 1	82	Gly-rich.				positive regulation of transcription, DNA-dependent		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|lung(1)|upper_aerodigestive_tract(1)	3	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CCGGCCCAATCGCCGCCGCCGCC	0.773													2	4	---	---	---	---						-	38512171	CGC	-	38512169	7	5	115	1	0	1	0	1	0	0	0	0	12320	884	31	0	1112	0	POU3F1	1	38512169	In_Frame_Del	DEL	CGC	TCGA-FC-A6HD-01A-11D-A31L-08		38512169	210738452	1	5891											
PTGFR	5737	broad.mit.edu	37	chr1	78959037	78959037	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagatagattttatcttctActtttttcttttctggggct	7	21	7	6	0	4	2	0	0	4	2	4	3	4	2	0	2	1	1	0	2	4	10			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr1:78959037A>C	ENST00000370756.3	+	2	846	c.609A>C	c.(607-609)ctA>ctC	p.L203L	PTGFR_ENST00000370758.1_Silent_p.L203L|PTGFR_ENST00000370757.3_Silent_p.L203L	NM_001039585.1	NP_001034674.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	203					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	TTTATCTTCTACTTTTTTCTT	0.393													26	45					0	0	1	0	0	C	78959037	A	C	78959037	2	2	115	1	0	0	0	0	0	0	0	1	12799	378	14	5		5	PTGFR	1	78959037	Silent	SNP	A	TCGA-FC-A6HD-01A-11D-A31L-08	40446868	78959037	170291584	2	5892											
SPRR2E	6704	broad.mit.edu	37	chr1	153066083	153066083	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggacatttttgctggcactGctgaggtgggcagggctgtg	6	11	17	7	0	0	1	0	1	0	0	0	2	0	2	0	5	2	5	0	5	0	2			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr1:153066083G>T	ENST00000368751.1	-	2	219	c.145C>A	c.(145-147)Cag>Aag	p.Q49K	SPRR2E_ENST00000368750.3_Missense_Mutation_p.Q49K|SPRR2B_ENST00000368752.4_Intron			P22531	SPR2E_HUMAN	small proline-rich protein 2E	49					keratinization	cornified envelope|cytoplasm	protein binding|structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGCTGGCACTGCTGAGGTGGG	0.592													74	239					1.2582e-26	1.35688e-26	1	1	0	T	153066083	G	T	153066083	3	4	115	1	0	0	0	0	1	0	0	0	15156	1328	46	4	77	4	SPRR2E	1	153066083	Missense_Mutation	SNP	G	TCGA-FC-A6HD-01A-11D-A31L-08	74107046	153066083	96184538	3	5893											
ZBTB41	360023	broad.mit.edu	37	chr1	197128614	197128637	+	In_Frame_Del	DEL	TATTTGCAGGTTGAGGAGTAAGAG	TATTTGCAGGTTGAGGAGTAAGAG	-																															aggtcgaactgggtgaactaTatttgcaggttgaggagtaa																								rs35114924		TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr1:197128614_197128637delTATTTGCAGGTTGAGGAGTAAGAG	ENST00000367405.4	-	10	2650_2673	c.2582_2605delCTCTTACTCCTCAACCTGCAAATA	c.(2581-2607)ata>a	p.TLTPQPANI861del	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	861					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						GGGTGAACTATATTTGCAGGTTGAGGAGTAAGAGTATATTTTTC	0.42													19	187	---	---	---	---						-	197128637	TATTTGCAGGTTGAGGAGTAAGAG	-	197128614	7	5	115	1	0	1	0	1	0	0	0	0	17602	1406	49	0	128	0	ZBTB41	1	197128614	In_Frame_Del	DEL	TATTTGCAGGTTGAGGAGTAAGAG	TCGA-FC-A6HD-01A-11D-A31L-08	44062531	197128614	52122007	4	5894											
CACNA1S	779	broad.mit.edu	37	chr1	201047221	201047221	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagagggacagcagcacccGgttggcaatgtctgtagggt	10	7	16	8	1	1	1	0	0	1	1	1	3	1	2	1	4	2	5	1	4	3	2			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr1:201047221G>A	ENST00000362061.3	-	11	1631	c.1405C>T	c.(1405-1407)Cgg>Tgg	p.R469W	CACNA1S_ENST00000367338.3_Missense_Mutation_p.R469W	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	469					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AGCAGCACCCGGTTGGCAATG	0.587													30	43					0	0	1	0	0	A	201047221	G	A	201047221	3	1	115	1	0	0	0	0	1	0	0	0	2565	1115	39	1	4352	1	CACNA1S	1	201047221	Missense_Mutation	SNP	G	TCGA-FC-A6HD-01A-11D-A31L-08	3918607	201047221	48203400	5	5895											
OBSCN	84033	broad.mit.edu	37	chr1	228558822	228558822	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tccctcggcgtagcccggcaCctctgcagggacactggtgg	5	7	14	15	3	1	0	0	0	1	0	3	1	2	1	3	5	2	3	3	5	1	1			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr1:228558822C>A	ENST00000570156.2	+	105	23288	c.23214C>A	c.(23212-23214)caC>caA	p.H7738Q	OBSCN_ENST00000366707.4_Missense_Mutation_p.H4415Q|OBSCN_ENST00000422127.1_Missense_Mutation_p.H6781Q	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6781	Protein kinase 2.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TAGCCCGGCACCTCTGCAGGG	0.657													15	30					1.3612e-06	1.41257e-06	1	1	0	A	228558822	C	A	228558822	3	1	115	1	0	0	0	0	1	0	0	0	10860	506	18	4	21923	4	OBSCN	1	228558822	Missense_Mutation	SNP	C	TCGA-FC-A6HD-01A-11D-A31L-08	27511601	228558822	20691799	6	5896											
FH	2271	broad.mit.edu	37	chr1	241669308	241669308	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacgtgatcactaacctgtaAgtgcagccacttttgcagca	11	10	8	12	1	1	1	1	1	0	0	1	1	1	1	2	0	5	4	2	0	2	4			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr1:241669308A>T	ENST00000366560.3	-	6	937	c.899T>A	c.(898-900)cTt>cAt	p.L300H		NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	300					fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		CTAACCTGTAAGTGCAGCCAC	0.398			"Mis, N, F"			"lieomyomatosis, renal"			Hereditary Leiomyomatosis and Renal Cell Cancer				35	47					0	0	1	0	0	T	241669308	A	T	241669308	3	4	115	1	0	0	0	0	1	0	0	0	5908	72	3	5	653	5	FH	1	241669308	Missense_Mutation	SNP	A	TCGA-FC-A6HD-01A-11D-A31L-08	13110486	241669308	7581313	7	5897											
OTX1	5013	broad.mit.edu	37	chr2	63283375	63283375	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgccgctgctgcttcctccgCctggaaactcaacttcaact	7	10	7	17	3	2	0	2	0	0	0	4	1	4	1	4	1	5	3	4	1	3	2			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr2:63283375C>G	ENST00000366671.3	+	5	1265	c.989C>G	c.(988-990)gCc>gGc	p.A330G	OTX1_ENST00000282549.2_Missense_Mutation_p.A330G	NM_001199770.1	NP_001186699.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	330						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					GCTTCCTCCGCCTGGAAACTC	0.577													27	55					0	0	1	0	0	G	63283375	C	G	63283375	3	3	115	1	0	0	0	0	1	0	0	0	11367	739	26	4	999	4	OTX1	2	63283375	Missense_Mutation	SNP	C	TCGA-FC-A6HD-01A-11D-A31L-08		63283375	179915998	8	5898											
UGT1A8	0	broad.mit.edu	37	chr2	234526724	234526724	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taacttatttttttcgcattGcaggagtttgtttaatgacc	9	19	7	6	1	0	1	0	1	0	0	1	2	0	2	1	1	2	4	1	1	3	9			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr2:234526724G>T	ENST00000373450.4	+	1	434	c.371G>T	c.(370-372)tGc>tTc	p.C124F		NM_019076.4	NP_061949.3														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008)		TTTTCGCATTGCAGGAGTTTG	0.353													5	146					1.024e-07	1.08308e-07	1	1	0	T	234526724	G	T	234526724	3	4	115	1	0	0	0	0	1	0	0	0	17011	1319	46	4	373	4	UGT1A8	2	234526724	Missense_Mutation	SNP	G	TCGA-FC-A6HD-01A-11D-A31L-08	171243349	234526724	8672649	9	5899											
ATG7	10533	broad.mit.edu	37	chr3	11402103	11402103	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacatttgttgtcatgagaCatggtctgaagaaaccaaag	15	10	9	7	0	2	3	1	2	1	2	2	4	2	3	1	1	1	1	1	1	3	2			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr3:11402103C>G	ENST00000354449.3	+	14	1553	c.1528C>G	c.(1528-1530)Cat>Gat	p.H510D	ATG7_ENST00000446450.2_Missense_Mutation_p.H471D|ATG7_ENST00000354956.5_Missense_Mutation_p.H510D	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	510					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						TGTCATGAGACATGGTCTGAA	0.458													87	99					0	0	1	0	0	G	11402103	C	G	11402103	3	3	115	1	0	0	0	0	1	0	0	0	1100	478	17	4	1578	4	ATG7	3	11402103	Missense_Mutation	SNP	C	TCGA-FC-A6HD-01A-11D-A31L-08		11402103	186620327	10	5900											
TMEM40	55287	broad.mit.edu	37	chr3	12783981	12783981	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agttgaagctcatccttcaaAacgtcaggctccccatgccc	10	9	7	15	1	3	1	3	1	0	0	5	1	5	1	4	1	3	3	4	1	3	2			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr3:12783981A>G	ENST00000314124.7	-	5	683	c.327T>C	c.(325-327)gtT>gtC	p.V109V	TMEM40_ENST00000435218.2_Silent_p.V79V|TMEM40_ENST00000264728.8_Silent_p.V109V|TMEM40_ENST00000431022.2_Silent_p.V125V|TMEM40_ENST00000435575.1_Silent_p.V33V	NM_018306.2	NP_060776.2	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	109						integral to membrane				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						CATCCTTCAAAACGTCAGGCT	0.512													53	80					0	0	1	0	0	G	12783981	A	G	12783981	2	3	115	1	0	0	0	0	0	0	0	1	16223	1	1	3		3	TMEM40	3	12783981	Silent	SNP	A	TCGA-FC-A6HD-01A-11D-A31L-08	1381878	12783981	185238449	11	5901											
PIGX	54965	broad.mit.edu	37	chr3	196460770	196460770	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaatatggccatttttccctAtaagttttatgtagttaaat	13	18	5	5	0	0	0	0	0	0	0	1	0	1	0	2	1	0	3	2	1	8	9	rs144273559	byFrequency	TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr3:196460770A>G	ENST00000314118.4	+	6	933	c.651A>G	c.(649-651)ctA>ctG	p.L217L	PIGX_ENST00000541663.1_Silent_p.L168L	NM_017861.3	NP_060331.3	Q8TBF5	PIGX_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class X	258					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(5)|lung(4)|stomach(1)	11	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;1.08e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00322)		ATTTTTCCCTATAAGTTTTAT	0.333													21	42					0	0	1	0	0	G	196460770	A	G	196460770	2	3	115	1	0	0	0	0	0	0	0	1	11951	436	16	3		3	PIGX	3	196460770	Silent	SNP	A	TCGA-FC-A6HD-01A-11D-A31L-08	183676789	196460770	1561660	12	5902											
C4orf19	55286	broad.mit.edu	37	chr4	37591965	37591965	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaggggaacaccatgcctgCggtgtcaacggcatcggccc	8	5	15	13	3	1	0	1	0	0	0	2	2	1	2	3	6	4	1	3	6	2	0			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr4:37591965C>T	ENST00000284437.6	+	3	466	c.288C>T	c.(286-288)tgC>tgT	p.C96C	C4orf19_ENST00000508175.1_Intron|C4orf19_ENST00000381980.4_Silent_p.C96C	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN	chromosome 4 open reading frame 19	96										large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						ACCATGCCTGCGGTGTCAACG	0.647													34	46					0	0	1	0	0	T	37591965	C	T	37591965	2	4	115	1	0	0	0	0	0	0	0	1	2268	776	27	1		1	C4orf19	4	37591965	Silent	SNP	C	TCGA-FC-A6HD-01A-11D-A31L-08		37591965	153562311	13	5903											
MAD2L1	4085	broad.mit.edu	37	chr4	120982029	120982029	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagttgtataatacttacAagaaacttccaacagtggca	17	10	7	7	0	0	2	0	0	0	2	1	2	1	2	1	1	4	3	1	1	8	6			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr4:120982029A>G	ENST00000296509.5	-	4	784	c.445_splice	c.e4+1	p.C149_splice		NM_002358.3	NP_002349.1	Q13257	MD2L1_HUMAN	MAD2 mitotic arrest deficient-like 1 (yeast)	149	HORMA.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of apoptosis|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of mitotic cell cycle spindle assembly checkpoint	condensed chromosome kinetochore|cytosol|nucleus|perinuclear region of cytoplasm	protein homodimerization activity			breast(2)|kidney(2)|large_intestine(2)|lung(3)	9						TAATACTTACAAGAAACTTCC	0.368													7	10					0	0	1	0	0	G	120982029	A	G	120982029	5	3	115	1	0	0	0	0	0	0	1	0	9194	144	5	3	180	3	MAD2L1	4	120982029	Splice_Site	SNP	A	TCGA-FC-A6HD-01A-11D-A31L-08	83390064	120982029	70172247	14	5904											
LIFR	3977	broad.mit.edu	37	chr5	38493716	38493716	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aattcatcttaccagattctAttacagtttcagtgctgttt	10	18	5	8	0	4	1	2	0	2	1	4	1	4	1	1	0	3	3	1	0	4	7			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr5:38493716A>C	ENST00000263409.4	-	14	2219	c.2057T>G	c.(2056-2058)aTa>aGa	p.I686R	LIFR_ENST00000453190.2_Missense_Mutation_p.I686R|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	686	Fibronectin type-III 5.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					ACCAGATTCTATTACAGTTTC	0.398			T	PLAG1	salivary adenoma								45	66					0	0	1	0	0	C	38493716	A	C	38493716	3	2	115	1	0	0	0	0	1	0	0	0	8820	449	16	5	1264	5	LIFR	5	38493716	Missense_Mutation	SNP	A	TCGA-FC-A6HD-01A-11D-A31L-08		38493716	142421544	15	5905											
HSPA4	3308	broad.mit.edu	37	chr5	132425287	132425291	+	Frame_Shift_Del	DEL	TCCTT	TCCTT	-																															ttttccaaaaatcatgctgcTcctttctctaaagttcttac																										TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr5:132425287_132425291delTCCTT	ENST00000304858.2	+	11	1567_1571	c.1278_1282delTCCTT	c.(1276-1284)gctcfs	p.APF426fs		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	426					cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATCATGCTGCTCCTTTCTCTAAAGT	0.385													12	34	---	---	---	---						-	132425291	TCCTT	-	132425287	7	5	115	1	0	1	0	1	0	0	0	0	7455	1538	54	0	1320	0	HSPA4	5	132425287	Frame_Shift_Del	DEL	TCCTT	TCGA-FC-A6HD-01A-11D-A31L-08	93931571	132425287	48489973	16	5906											
PCDHB16	0	broad.mit.edu	37	chr5	140563061	140563061	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgagaaagcaagtagatttCgaaatggttacgtcttatga	14	12	10	5	2	1	3	0	2	1	2	2	5	1	3	0	1	2	3	0	1	6	4			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr5:140563061C>T	ENST00000361016.2	+	1	2082	c.927C>T	c.(925-927)ttC>ttT	p.F309F		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		309	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAGTAGATTTCGAAATGGTTA	0.443													20	73					0	0	1	0	0	T	140563061	C	T	140563061	2	4	115	1	0	0	0	0	0	0	0	1	11588	883	31	1		1	PCDHB16	5	140563061	Silent	SNP	C	TCGA-FC-A6HD-01A-11D-A31L-08	8137774	140563061	40352199	17	5907											
CUTA	51596	broad.mit.edu	37	chr6	33385083	33385083	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctaggcgcttctccaccaCggccctggagtgaagagaca	9	7	12	13	2	1	2	0	1	1	1	2	4	1	3	3	3	1	2	3	3	2	2			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr6:33385083C>T	ENST00000374500.5	-	3	450	c.319G>A	c.(319-321)Gtg>Atg	p.V107M	CUTA_ENST00000440279.3_Missense_Mutation_p.V65M|CUTA_ENST00000374496.3_Missense_Mutation_p.V65M|CUTA_ENST00000488034.1_Missense_Mutation_p.V88M|CUTA_ENST00000607266.1_Missense_Mutation_p.V65M|CUTA_ENST00000494751.1_Missense_Mutation_p.V65M|CUTA_ENST00000488478.1_Missense_Mutation_p.V88M	NM_001014433.2	NP_001014433.1	O60888	CUTA_HUMAN	cutA divalent cation tolerance homolog (E. coli)	88					protein localization|response to metal ion	membrane	enzyme binding		SLC22A1/CUTA(2)	kidney(1)|lung(3)|urinary_tract(1)	5						TTCTCCACCACGGCCCTGGAG	0.537													22	33					0	0	1	0	0	T	33385083	C	T	33385083	3	4	115	1	0	0	0	0	1	0	0	0	4085	536	19	1	293	1	CUTA	6	33385083	Missense_Mutation	SNP	C	TCGA-FC-A6HD-01A-11D-A31L-08		33385083	137729984	18	5908											
GPNMB	10457	broad.mit.edu	37	chr7	23300355	23300355	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaccttgtccgccaccgccAccaccacccagaccttcaaa	10	5	6	20	2	1	1	1	0	0	1	2	2	2	2	9	1	0	0	9	1	1	2			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr7:23300355A>G	ENST00000258733.4	+	6	1276	c.981A>G	c.(979-981)ccA>ccG	p.P327P	GPNMB_ENST00000539136.1_Silent_p.P228P|GPNMB_ENST00000381990.2_Silent_p.P327P|GPNMB_ENST00000453162.2_Silent_p.P269P			Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	327	PKD.|Poly-Pro.				negative regulation of cell proliferation	melanosome				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			CGCCACCGCCACCACCACCCA	0.502													48	114					0	0	1	0	0	G	23300355	A	G	23300355	2	3	115	1	0	0	0	0	0	0	0	1	6660	146	6	3		3	GPNMB	7	23300355	Silent	SNP	A	TCGA-FC-A6HD-01A-11D-A31L-08		23300355	135838308	19	5909											
SRCRB4D	136853	broad.mit.edu	37	chr7	76029672	76029672	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccagccgcggctgccgcactCgctcagcgcagcttcctgcc	4	6	11	20	5	1	0	1	0	0	0	3	0	2	0	5	1	5	5	5	1	0	1			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr7:76029672C>T	ENST00000275560.3	-	4	753	c.406G>A	c.(406-408)Gag>Aag	p.E136K	ZP3_ENST00000336517.4_Intron	NM_080744.1	NP_542782.1	Q8WTU2	SRB4D_HUMAN	scavenger receptor cysteine rich domain containing, group B (4 domains)	136	SRCR 1.					extracellular region|membrane	scavenger receptor activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						CTGCCGCACTCGCTCAGCGCA	0.672													7	75					0	0	1	0	0	T	76029672	C	T	76029672	3	4	115	1	0	0	0	0	1	0	0	0	15193	893	31	1	1353	1	SRCRB4D	7	76029672	Missense_Mutation	SNP	C	TCGA-FC-A6HD-01A-11D-A31L-08	52729317	76029672	83108991	20	5910											
OR2A2	442361	broad.mit.edu	37	chr7	143806868	143806868	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtacttcttcctctcacacCtggccatcattgacatgtcc	7	14	5	15	0	3	1	2	1	2	0	6	1	5	1	4	1	1	1	4	1	1	4			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr7:143806868C>T	ENST00000408979.2	+	1	262	c.193C>T	c.(193-195)Ctg>Ttg	p.L65L		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					CCTCTCACACCTGGCCATCAT	0.453													7	194					0	0	1	0	0	T	143806868	C	T	143806868	2	4	115	1	0	0	0	0	0	0	0	1	11025	680	24	2		2	OR2A2	7	143806868	Silent	SNP	C	TCGA-FC-A6HD-01A-11D-A31L-08	67777196	143806868	15331795	21	5911											
KIAA1967	0	broad.mit.edu	37	chr8	22464425	22464425	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcttgtgtgctgacagtgTggtgaagggccgtctgcccc	4	11	16	10	1	1	2	0	2	1	0	1	2	1	2	3	3	2	2	3	3	1	1			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr8:22464425T>C	ENST00000308511.4	+	5	494	c.245T>C	c.(244-246)gTg>gCg	p.V82A	KIAA1967_ENST00000520861.1_5'UTR|KIAA1967_ENST00000389279.3_Missense_Mutation_p.V82A			Q8N163	K1967_HUMAN		82					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5)	25		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		GCTGACAGTGTGGTGAAGGGC	0.602													30	34					0	0	1	0	0	C	22464425	T	C	22464425	3	2	115	1	0	0	0	0	1	0	0	0	8307	1696	59	3	259	3	KIAA1967	8	22464425	Missense_Mutation	SNP	T	TCGA-FC-A6HD-01A-11D-A31L-08		22464425	123899597	22	5912											
DCAF4L2	138009	broad.mit.edu	37	chr8	88886040	88886040	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggacctttttcctctgcaTgcagcttacacgcagctcgc	6	12	8	15	2	1	0	0	0	1	0	3	1	2	1	2	1	5	5	2	1	1	3			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr8:88886040T>C	ENST00000319675.3	-	1	256	c.160A>G	c.(160-162)Atg>Gtg	p.M54V		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	54										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TTCCTCTGCATGCAGCTTACA	0.507													32	59					0	0	1	0	0	C	88886040	T	C	88886040	3	2	115	1	0	0	0	0	1	0	0	0	4296	1464	51	3	1031	3	DCAF4L2	8	88886040	Missense_Mutation	SNP	T	TCGA-FC-A6HD-01A-11D-A31L-08	66421615	88886040	57477982	23	5913											
SLC2A8	29988	broad.mit.edu	37	chr9	130167187	130167187	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcctcgcacgtggccatctCggcgcctgtctctgcacagc	4	9	10	18	4	2	0	0	0	2	0	6	0	3	0	3	2	2	2	3	2	0	0			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr9:130167187C>T	ENST00000373371.3	+	8	1156	c.1067C>T	c.(1066-1068)tCg>tTg	p.S356L	SLC2A8_ENST00000485806.1_3'UTR|SLC2A8_ENST00000373360.3_Missense_Mutation_p.S356L|SLC2A8_ENST00000373352.1_Missense_Mutation_p.S93L	NM_001271712.1|NM_014580.3	NP_001258641.1|NP_055395.2	Q9NY64	GTR8_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 8	356						cytoplasmic vesicle membrane|integral to plasma membrane	D-glucose transmembrane transporter activity	p.S356L(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	11						GTGGCCATCTCGGCGCCTGTC	0.667													43	67					0	0	1	0	0	T	130167187	C	T	130167187	3	4	115	1	0	0	0	0	1	0	0	0	14606	893	31	1	1097	1	SLC2A8	9	130167187	Missense_Mutation	SNP	C	TCGA-FC-A6HD-01A-11D-A31L-08		130167187	11046244	24	5914											
P2RY6	0	broad.mit.edu	37	chr11	73007592	73007592	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacaatggcacaggccaggCtctgggcttgccacccacca	9	5	12	15	0	1	0	0	0	1	0	1	1	1	1	4	5	1	3	4	5	1	1			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr11:73007592C>G	ENST00000393590.2	+	2	328	c.29C>G	c.(28-30)gCt>gGt	p.A10G	P2RY6_ENST00000538328.1_Missense_Mutation_p.A10G|P2RY6_ENST00000540342.1_Missense_Mutation_p.A10G|P2RY6_ENST00000393592.2_Missense_Mutation_p.A10G|P2RY6_ENST00000393591.1_Missense_Mutation_p.A10G|P2RY6_ENST00000349767.2_Missense_Mutation_p.A10G|P2RY6_ENST00000542092.1_Missense_Mutation_p.A10G|P2RY6_ENST00000540124.1_Missense_Mutation_p.A10G	NM_001277207.1|NM_001277208.1	NP_001264136.1|NP_001264137.1	Q15077	P2RY6_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 6	10					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)	14						ACAGGCCAGGCTCTGGGCTTG	0.602													5	207					0	0	1	0	0	G	73007592	C	G	73007592	3	3	115	1	0	0	0	0	1	0	0	0	11401	797	28	4	31	4	P2RY6	11	73007592	Missense_Mutation	SNP	C	TCGA-FC-A6HD-01A-11D-A31L-08		73007592	61998924	25	5915											
TAS2R42	353164	broad.mit.edu	37	chr12	11339091	11339091	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atattgagtgagatatcaatAaatatttctagcactaaact	17	14	5	5	0	2	2	1	2	1	1	2	3	2	2	0	0	2	1	0	0	9	8			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr12:11339091A>T	ENST00000334266.1	-	1	452	c.453T>A	c.(451-453)ttT>ttA	p.F151L		NM_181429.1	NP_852094.1	Q7RTR8	T2R42_HUMAN	taste receptor, type 2, member 42	151					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(2)|lung(4)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(49;0.0455)			AGATATCAATAAATATTTCTA	0.289													4	40					0	0	1	0	0	T	11339091	A	T	11339091	3	4	115	1	0	0	0	0	1	0	0	0	15637	359	13	5	495	5	TAS2R42	12	11339091	Missense_Mutation	SNP	A	TCGA-FC-A6HD-01A-11D-A31L-08		11339091	122512804	26	5916											
RECQL	5965	broad.mit.edu	37	chr12	21630844	21630844	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgatttgttgcagttgcagTcagcccaattagtgatgcgt	8	14	12	7	1	1	2	1	2	0	0	1	2	1	2	1	0	4	4	1	0	2	4			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr12:21630844T>C	ENST00000444129.2	-	7	1228	c.760A>G	c.(760-762)Act>Gct	p.T254A	RECQL_ENST00000421138.2_Missense_Mutation_p.T254A	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ protein-like (DNA helicase Q1-like)	254	Helicase ATP-binding.				DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						GCAGTTGCAGTCAGCCCAATT	0.368								Other identified genes with known or suspected DNA repair function					33	60					0	0	1	0	0	C	21630844	T	C	21630844	3	2	115	1	0	0	0	0	1	0	0	0	13253	1667	58	3	1225	3	RECQL	12	21630844	Missense_Mutation	SNP	T	TCGA-FC-A6HD-01A-11D-A31L-08	10291753	21630844	112221051	27	5917											
MYL6B	140465	broad.mit.edu	37	chr12	56548975	56548975	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaggtcctggggaaccccaaGagtgatggtgaggggaccct	10	6	16	9	0	0	3	0	2	0	1	1	5	1	5	4	6	1	0	4	6	3	0			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr12:56548975G>C	ENST00000553066.1	+	4	761	c.339G>C	c.(337-339)aaG>aaC	p.K113N	MYL6B_ENST00000550443.1_Missense_Mutation_p.K113N|MYL6B_ENST00000552568.1_Missense_Mutation_p.K113N|RP11-603J24.14_ENST00000548731.1_RNA|MYL6B_ENST00000550152.1_3'UTR|MYL6B_ENST00000207437.5_Missense_Mutation_p.K113N			P14649	MYL6B_HUMAN	myosin, light chain 6B, alkali, smooth muscle and non-muscle	113					muscle filament sliding|skeletal muscle tissue development	cytosol|muscle myosin complex|unconventional myosin complex	calcium ion binding|motor activity|protein binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(4)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			GGAACCCCAAGAGTGATGGTG	0.522													5	109					0	0	1	0	0	C	56548975	G	C	56548975	3	2	115	1	0	0	0	0	1	0	0	0	10100	933	33	4	349	4	MYL6B	12	56548975	Missense_Mutation	SNP	G	TCGA-FC-A6HD-01A-11D-A31L-08	34918131	56548975	77302920	28	5918											
RASAL1	8437	broad.mit.edu	37	chr12	113539707	113539707	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccacctgagctggtcccGccccaggagcagctgccgat	7	5	11	18	2	0	1	0	1	0	0	1	3	1	2	6	2	4	3	6	2	0	0			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr12:113539707G>A	ENST00000546530.1	-	20	2500	c.2215C>T	c.(2215-2217)Cgg>Tgg	p.R739W	RASAL1_ENST00000261729.5_Missense_Mutation_p.R737W|RASAL1_ENST00000446861.3_Missense_Mutation_p.R709W|RASAL1_ENST00000548055.1_Missense_Mutation_p.R738W	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	737					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						AGCTGGTCCCGCCCCAGGAGC	0.627													8	69					0	0	1	0	0	A	113539707	G	A	113539707	3	1	115	1	0	0	0	0	1	0	0	0	13115	1086	38	1	217	1	RASAL1	12	113539707	Missense_Mutation	SNP	G	TCGA-FC-A6HD-01A-11D-A31L-08	56990732	113539707	20312188	29	5919											
WSB2	55884	broad.mit.edu	37	chr12	118474220	118474220	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	taagaagccgtgacaagcagGgcagagtcgggggagaagtc	13	4	17	7	2	0	4	0	1	0	3	2	5	0	4	1	3	2	2	1	3	4	1			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr12:118474220G>C	ENST00000315436.3	-	6	897	c.756C>G	c.(754-756)gcC>gcG	p.A252A	WSB2_ENST00000544233.1_Silent_p.A42A|WSB2_ENST00000536738.1_5'UTR|WSB2_ENST00000542304.1_Silent_p.A27A|WSB2_ENST00000535496.1_Silent_p.A254A|WSB2_ENST00000441406.2_Silent_p.A269A	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN	WD repeat and SOCS box containing 2	252					intracellular signal transduction					breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGACAAGCAGGGCAGAGTCGG	0.517													28	123					0	0	1	0	0	C	118474220	G	C	118474220	2	2	115	1	0	0	0	0	0	0	0	1	17465	1219	43	4		4	WSB2	12	118474220	Silent	SNP	G	TCGA-FC-A6HD-01A-11D-A31L-08	4934513	118474220	15377675	30	5920											
MYCBP2	23077	broad.mit.edu	37	chr13	77765887	77765887	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcctgacactcgggcccatgCcacataccaccacccagctt	9	7	6	19	1	0	1	0	1	0	0	2	1	1	1	6	1	3	1	6	1	1	2			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr13:77765887C>T	ENST00000407578.2	-	28	4263	c.3997G>A	c.(3997-3999)Gca>Aca	p.A1333T	MYCBP2_ENST00000357337.6_Missense_Mutation_p.A1295T|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Missense_Mutation_p.A1295T	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	1295					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)		CGGGCCCATGCCACATACCAC	0.428													3	28					0	0	1	0	0	T	77765887	C	T	77765887	3	4	115	1	0	0	0	0	1	0	0	0	10066	739	26	2	10263	2	MYCBP2	13	77765887	Missense_Mutation	SNP	C	TCGA-FC-A6HD-01A-11D-A31L-08		77765887	37403991	31	5921											
NYNRIN	57523	broad.mit.edu	37	chr14	24880387	24880387	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgtttgtacccacctggcaGctgaagaagaaccggagggt	10	8	14	9	1	0	3	0	1	0	2	0	4	0	4	3	3	3	4	3	3	4	2			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr14:24880387G>A	ENST00000382554.3	+	5	2838	c.2520G>A	c.(2518-2520)caG>caA	p.Q840Q		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	840					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CCACCTGGCAGCTGAAGAAGA	0.592											OREG0022626	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	135					0	0	1	0	0	A	24880387	G	A	24880387	2	1	115	1	0	0	0	0	0	0	0	1	10844	962	34	2		2	NYNRIN	14	24880387	Silent	SNP	G	TCGA-FC-A6HD-01A-11D-A31L-08		24880387	82469153	32	5922											
PTGDR	5729	broad.mit.edu	37	chr14	52735165	52735165	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agcctcatggcgctgctggtCctcgccaccgtgctgtgcaa	5	9	12	15	3	1	0	1	0	0	0	3	0	2	0	4	2	4	4	4	2	1	0			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr14:52735165C>T	ENST00000306051.2	+	1	735	c.633C>T	c.(631-633)gtC>gtT	p.V211V	PTGDR_ENST00000553372.1_Silent_p.V211V	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	211						integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	CGCTGCTGGTCCTCGCCACCG	0.677													37	56					0	0	1	0	0	T	52735165	C	T	52735165	2	4	115	1	0	0	0	0	0	0	0	1	12790	842	30	2		2	PTGDR	14	52735165	Silent	SNP	C	TCGA-FC-A6HD-01A-11D-A31L-08	27854778	52735165	54614375	33	5923											
AGBL1	123624	broad.mit.edu	37	chr15	87066160	87066160	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccacctgagcagcattggccGaagtcccgtggtgagtcact	8	8	12	13	2	1	2	1	2	0	0	2	3	2	2	4	2	2	2	4	2	1	1			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr15:87066160G>A	ENST00000441037.2	+	18	2632	c.2537G>A	c.(2536-2538)cGa>cAa	p.R846Q	AGBL1_ENST00000389298.3_Missense_Mutation_p.R577Q|AGBL1_ENST00000421325.2_Missense_Mutation_p.R846Q	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	846					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						AGCATTGGCCGAAGTCCCGTG	0.522													4	195					0	0	1	0	0	A	87066160	G	A	87066160	3	1	115	1	0	0	0	0	1	0	0	0	372	1058	37	1	2603	1	AGBL1	15	87066160	Missense_Mutation	SNP	G	TCGA-FC-A6HD-01A-11D-A31L-08		87066160	15465232	34	5924											
NOS2	4843	broad.mit.edu	37	chr17	26110004	26110004	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actggatcctcccaatgcagCgtggggcattgcgccaggcc	7	7	13	14	2	0	0	0	0	0	0	2	1	2	1	4	4	3	2	4	4	1	1			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr17:26110004C>T	ENST00000313735.6	-	6	829	c.596G>A	c.(595-597)cGc>cAc	p.R199H		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	199					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	CCCAATGCAGCGTGGGGCATT	0.577													5	71					0	0	1	0	0	T	26110004	C	T	26110004	3	4	115	1	0	0	0	0	1	0	0	0	10590	768	27	1	2953	1	NOS2	17	26110004	Missense_Mutation	SNP	C	TCGA-FC-A6HD-01A-11D-A31L-08		26110004	55085206	35	5925											
JUP	3728	broad.mit.edu	37	chr17	39912083	39912083	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtctccatccatgtccatGtgcatctccagcgggtcaag	8	11	9	13	1	3	0	1	0	2	0	7	0	5	0	4	1	2	1	4	1	2	1			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr17:39912083G>A	ENST00000393931.3	-	14	2269	c.2151C>T	c.(2149-2151)caC>caT	p.H717H	JUP_ENST00000540235.1_Intron|JUP_ENST00000393930.1_Silent_p.H717H|JUP_ENST00000310706.5_Silent_p.H717H	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	717					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		CCATGTCCATGTGCATCTCCA	0.637													17	21					0	0	1	0	0	A	39912083	G	A	39912083	2	1	115	1	0	0	0	0	0	0	0	1	8016	1368	48	2		2	JUP	17	39912083	Silent	SNP	G	TCGA-FC-A6HD-01A-11D-A31L-08	13802079	39912083	41283127	36	5926											
MED13	9969	broad.mit.edu	37	chr17	60062197	60062197	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgttccaatgatggtggtgTaggatacattttatgaagat	11	16	11	3	0	0	3	0	2	0	1	1	4	1	4	1	3	1	2	1	3	5	6			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr17:60062197T>C	ENST00000397786.2	-	14	2582	c.2506A>G	c.(2506-2508)Aca>Gca	p.T836A		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	836					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GATGGTGGTGTAGGATACATT	0.323													7	15					0	0	1	0	0	C	60062197	T	C	60062197	3	2	115	1	0	0	0	0	1	0	0	0	9480	1638	57	3	4086	3	MED13	17	60062197	Missense_Mutation	SNP	T	TCGA-FC-A6HD-01A-11D-A31L-08	20150114	60062197	21133013	37	5927											
TSEN54	283989	broad.mit.edu	37	chr17	73518111	73518111	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgccacacccttctgcgcGccccagccccagagctgctc	5	5	9	22	3	1	1	0	0	1	1	2	1	1	1	7	0	4	2	7	0	0	1			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr17:73518111G>T	ENST00000333213.6	+	8	985	c.949G>T	c.(949-951)Gcc>Tcc	p.A317S		NM_207346.2	NP_997229.2	Q7Z6J9	SEN54_HUMAN	TSEN54 tRNA splicing endonuclease subunit	317					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)	13	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCTTCTGCGCGCCCCAGCCCC	0.652													4	6					0.00024832	0.00024832	1	1	0	T	73518111	G	T	73518111	3	4	115	1	0	0	0	0	1	0	0	0	16675	1087	38	4	979	4	TSEN54	17	73518111	Missense_Mutation	SNP	G	TCGA-FC-A6HD-01A-11D-A31L-08	13455914	73518111	7677099	38	5928											
SMAD7	4092	broad.mit.edu	37	chr18	46447811	46447811	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aactggcgggtgtagcactgGccccagcccttcacaaagct	9	7	11	14	1	1	0	1	0	0	0	1	0	1	0	3	3	4	3	3	3	3	2	rs1052572		TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr18:46447811G>A	ENST00000262158.2	-	4	1498	c.1212C>T	c.(1210-1212)ggC>ggT	p.G404G	SMAD7_ENST00000591805.1_Silent_p.G189G|SMAD7_ENST00000589634.1_Silent_p.G403G	NM_001190821.1|NM_005904.3	NP_001177750.1|NP_005895.1	O15105	SMAD7_HUMAN	SMAD family member 7	404	MH2.				adherens junction assembly|artery morphogenesis|BMP signaling pathway|cellular protein complex localization|negative regulation of BMP signaling pathway|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of peptidyl-serine phosphorylation|negative regulation of peptidyl-threonine phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of ubiquitin-protein ligase activity|pathway-restricted SMAD protein phosphorylation|positive regulation of anti-apoptosis|positive regulation of cell-cell adhesion|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein stabilization|regulation of activin receptor signaling pathway|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	centrosome|cytosol|nucleolus|plasma membrane|transcription factor complex	activin binding|beta-catenin binding|I-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10	Colorectal(1;0.0518)					TGTAGCACTGGCCCCAGCCCT	0.617													8	32					0	0	1	0	0	A	46447811	G	A	46447811	2	1	115	1	0	0	0	0	0	0	0	1	14817	1190	42	2		2	SMAD7	18	46447811	Silent	SNP	G	TCGA-FC-A6HD-01A-11D-A31L-08		46447811	31629437	39	5929											
FBN3	84467	broad.mit.edu	37	chr19	8188379	8188379	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgttcctgggcatccagggcGaagccccccgcacaggcgca	7	4	13	17	4	0	0	0	0	0	0	2	1	2	0	5	3	1	4	5	3	1	1			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr19:8188379G>A	ENST00000600128.1	-	24	3465	c.3051C>T	c.(3049-3051)ttC>ttT	p.F1017F	FBN3_ENST00000601739.1_Silent_p.F1017F|FBN3_ENST00000270509.2_Silent_p.F1017F			Q75N90	FBN3_HUMAN	fibrillin 3	1017	EGF-like 12; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CATCCAGGGCGAAGCCCCCCG	0.597													7	25					0	0	1	0	0	A	8188379	G	A	8188379	2	1	115	1	0	0	0	0	0	0	0	1	5737	1049	37	1		1	FBN3	19	8188379	Silent	SNP	G	TCGA-FC-A6HD-01A-11D-A31L-08		8188379	50940604	40	5930											
ESF1	51575	broad.mit.edu	37	chr20	13763443	13763443	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gattagccttcttggtttctTtctttttctcaactagattt	6	22	5	8	0	4	1	1	0	4	1	5	2	4	1	1	1	2	1	1	1	3	9			TCGA-FC-A6HD-01A-11D-A31L-08	TCGA-FC-A6HD-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b784d464-ed48-4b7e-ae31-b3fe20d63594	955bd0b6-b0f9-4092-9509-d09a7c632fd1	g.chr20:13763443T>C	ENST00000202816.1	-	2	451	c.344A>G	c.(343-345)aAa>aGa	p.K115R		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	115	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						CTTGGTTTCTTTCTTTTTCTC	0.274													14	19					0	0	1	0	0	C	13763443	T	C	13763443	3	2	115	1	0	0	0	0	1	0	0	0	5279	1841	64	3	2263	3	ESF1	20	13763443	Missense_Mutation	SNP	T	TCGA-FC-A6HD-01A-11D-A31L-08		13763443	49262077	41	5931											
CELSR2	1952	broad.mit.edu	37	chr1	109803688	109803688	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcactgtgaggtgagtgctcGctcaggccgttgcaccccgg	5	8	15	13	3	1	2	1	2	0	0	2	2	1	2	3	3	2	5	3	3	0	1			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr1:109803688G>T	ENST00000271332.3	+	3	4044	c.3983G>T	c.(3982-3984)cGc>cTc	p.R1328L		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1328	EGF-like 3; calcium-binding.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GTGAGTGCTCGCTCAGGCCGT	0.597													6	96					5.18039e-06	6.5087e-06	0.00308	1	0	T	109803688	G	T	109803688	3	4	116	1	0	0	0	0	1	0	0	0	3244	1087	38	4	3993	4	CELSR2	1	109803688	Missense_Mutation	SNP	G	TCGA-G9-6329-01A-13D-1961-08		109803688	139446933	1	5932											
TTC13	79573	broad.mit.edu	37	chr1	231069565	231069565	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttatatgcatcaataaagtCaactttctgcttcaaagctt	13	16	4	8	0	4	0	3	0	1	0	4	0	4	0	0	0	4	3	0	0	7	7			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr1:231069565C>A	ENST00000366661.4	-	9	950	c.943G>T	c.(943-945)Gac>Tac	p.D315Y	TTC13_ENST00000366662.4_Missense_Mutation_p.D262Y|TTC13_ENST00000414259.1_Missense_Mutation_p.D262Y	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	315							binding			central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		TCAATAAAGTCAACTTTCTGC	0.353													9	98					0.00829132	0.0096732	0.008291	1	0	A	231069565	C	A	231069565	3	1	116	1	0	0	0	0	1	0	0	0	16742	826	29	4	1699	4	TTC13	1	231069565	Missense_Mutation	SNP	C	TCGA-G9-6329-01A-13D-1961-08	121265877	231069565	18181056	2	5933											
RAB3GAP1	22930	broad.mit.edu	37	chr2	135870798	135870798	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagcgaatctaagtgcaaccTtcttctgagttctgtttcta	9	15	7	10	1	5	1	0	1	5	0	5	2	5	1	1	0	3	3	1	0	4	6			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr2:135870798T>G	ENST00000264158.8	+	6	483	c.440T>G	c.(439-441)cTt>cGt	p.L147R	RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.L103R|RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.L147R	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	147						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		AAGTGCAACCTTCTTCTGAGT	0.398													16	111					0	0	0.00499	0	0	G	135870798	T	G	135870798	3	3	116	1	0	0	0	0	1	0	0	0	12987	1609	56	5	462	5	RAB3GAP1	2	135870798	Missense_Mutation	SNP	T	TCGA-G9-6329-01A-13D-1961-08		135870798	107328575	3	5934											
THSD7B	80731	broad.mit.edu	37	chr2	137814555	137814555	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cccatttcctgtcctcttggGgaagaggaatatacatttag	10	13	9	9	0	1	1	0	0	1	1	3	3	3	3	3	3	1	0	3	3	5	6			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr2:137814555G>T	ENST00000409968.1	+	3	883	c.705G>T	c.(703-705)ggG>ggT	p.G235G	THSD7B_ENST00000413152.2_Silent_p.G204G|THSD7B_ENST00000272643.3_Silent_p.G235G|THSD7B_ENST00000543459.1_Silent_p.G94G					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GTCCTCTTGGGGAAGAGGAAT	0.463													32	254					1.61788e-16	2.1426e-16	0.012213	1	0	T	137814555	G	T	137814555	2	4	116	1	0	0	0	0	0	0	0	1	15940	1219	43	4		4	THSD7B	2	137814555	Silent	SNP	G	TCGA-G9-6329-01A-13D-1961-08	1943757	137814555	105384818	4	5935											
ATIC	471	broad.mit.edu	37	chr2	216177305	216177305	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tttgaatctggtcgcttccgGagggactgcaaaagctctca	9	11	11	10	2	2	1	1	1	2	0	5	3	3	3	1	3	2	3	1	3	3	2			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr2:216177305G>A	ENST00000435675.1	+	1	492	c.101G>A	c.(100-102)gGa>gAa	p.G34E	ATIC_ENST00000540518.1_5'UTR|ATIC_ENST00000236959.9_Missense_Mutation_p.G35E			P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	35					IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Tetrahydrofolic acid(DB00116)	GTCGCTTCCGGAGGGACTGCA	0.473			T	ALK	ALCL								20	84					0	0	0.008871	0	0	A	216177305	G	A	216177305	3	1	116	1	0	0	0	0	1	0	0	0	1104	1174	41	2	110	2	ATIC	2	216177305	Missense_Mutation	SNP	G	TCGA-G9-6329-01A-13D-1961-08	78362750	216177305	27022068	5	5936											
ZBTB11	27107	broad.mit.edu	37	chr3	101384241	101384241	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagctatacatcctactgatGacagggcagattcagcctct	11	10	8	12	0	2	3	1	2	1	1	3	3	3	3	2	1	4	2	2	1	3	4			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr3:101384241G>C	ENST00000312938.4	-	4	1770	c.1190C>G	c.(1189-1191)tCa>tGa	p.S397*		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	397					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TCCTACTGATGACAGGGCAGA	0.438													13	106					0	0	0.013537	0	0	C	101384241	G	C	101384241	4	2	116	1	0	0	0	0	0	1	0	0	17583	1294	45	4	2003	4	ZBTB11	3	101384241	Nonsense_Mutation	SNP	G	TCGA-G9-6329-01A-13D-1961-08		101384241	96638189	6	5937											
EDNRA	1909	broad.mit.edu	37	chr4	148407185	148407185	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggaatggccccaacgcgCtgatagccagtcttgccctt	8	9	11	13	2	1	2	0	2	1	0	1	3	1	3	4	2	3	1	4	2	3	3			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr4:148407185C>T	ENST00000324300.5	+	2	867	c.352C>T	c.(352-354)Ctg>Ttg	p.L118L	EDNRA_ENST00000511804.1_Intron|EDNRA_ENST00000339690.5_Silent_p.L118L|EDNRA_ENST00000358556.4_Silent_p.L118L|EDNRA_ENST00000506066.1_Silent_p.L118L	NM_001957.3	NP_001948.1	P25101	EDNRA_HUMAN	endothelin receptor type A	118					activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange	integral to plasma membrane	endothelin-A receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Bosentan(DB00559)	CCCCAACGCGCTGATAGCCAG	0.418													15	86					0	0	0.00245	0	0	T	148407185	C	T	148407185	2	4	116	1	0	0	0	0	0	0	0	1	4945	796	28	2		2	EDNRA	4	148407185	Silent	SNP	C	TCGA-G9-6329-01A-13D-1961-08		148407185	42747091	7	5938											
WDR17	116966	broad.mit.edu	37	chr4	177058761	177058761	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattatacaacgatttaatgAggtaagatttatttattgct	15	17	6	3	1	0	2	0	1	0	1	0	3	0	2	0	1	3	2	0	1	8	10			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr4:177058761A>G	ENST00000393643.2	+	9	1610	c.1359_splice	c.e9+1	p.E453_splice	WDR17_ENST00000280190.4_Splice_Site_p.E477_splice|WDR17_ENST00000508596.1_Splice_Site_p.E453_splice|WDR17_ENST00000507824.2_Splice_Site_p.E460_splice	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	477										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CGATTTAATGAGGTAAGATTT	0.249													5	52					0	0	0.000602	0	0	G	177058761	A	G	177058761	5	3	116	1	0	0	0	0	0	0	1	0	17337	318	11	3	1464	3	WDR17	4	177058761	Splice_Site	SNP	A	TCGA-G9-6329-01A-13D-1961-08	28651576	177058761	14095515	8	5939											
TRIO	7204	broad.mit.edu	37	chr5	14504503	14504503	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cccctgacatattttacaggGgcagattctctgtcgttaag	9	13	9	10	1	1	2	0	1	1	1	3	2	1	2	2	2	1	2	2	2	3	5			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr5:14504503G>A	ENST00000344204.4	+	55	8437	c.8411_splice	c.e55-1	p.G2805_splice	TRIO_ENST00000344135.5_Splice_Site_p.G304_splice|TRIO_ENST00000537187.1_Splice_Site_p.G2629_splice	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2805	Protein kinase.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					ATTTTACAGGGGCAGATTCTC	0.502													6	85					0	0	0.001984	0	0	A	14504503	G	A	14504503	5	1	116	1	0	0	0	0	0	0	1	0	16613	1246	43	2	8631	2	TRIO	5	14504503	Splice_Site	SNP	G	TCGA-G9-6329-01A-13D-1961-08		14504503	166410757	9	5940											
NMUR2	56923	broad.mit.edu	37	chr5	151784352	151784352	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgaacaagaaagggtagttgCgccacatctcatagacctcc	13	7	9	12	2	1	2	1	0	1	2	3	3	2	2	3	1	2	2	3	1	5	3			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr5:151784352C>T	ENST00000255262.3	-	1	488	c.323G>A	c.(322-324)cGc>cAc	p.R108H	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	108					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			AGGGTAGTTGCGCCACATCTC	0.587													19	149					0	0	0.007413	0	0	T	151784352	C	T	151784352	3	4	116	1	0	0	0	0	1	0	0	0	10554	768	27	1	940	1	NMUR2	5	151784352	Missense_Mutation	SNP	C	TCGA-G9-6329-01A-13D-1961-08	137279849	151784352	29130908	10	5941											
F12	2161	broad.mit.edu	37	chr5	176830536	176830536	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcgtgcaagcggtaggagcGcacggccaacgtctggcacg	8	5	15	13	6	1	0	0	0	1	0	2	1	1	1	1	4	4	4	1	4	3	1			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr5:176830536G>A	ENST00000253496.3	-	11	1381	c.1333C>T	c.(1333-1335)Cgc>Tgc	p.R445C		NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	445	Peptidase S1.				Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGGTAGGAGCGCACGGCCAAC	0.721									Hereditary Angioedema				3	16					0	0	0.004672	0	0	A	176830536	G	A	176830536	3	1	116	1	0	0	0	0	1	0	0	0	5367	1087	38	1	530	1	F12	5	176830536	Missense_Mutation	SNP	G	TCGA-G9-6329-01A-13D-1961-08	25046184	176830536	4084724	11	5942											
COL12A1	1303	broad.mit.edu	37	chr6	75892975	75892975	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgaattcctcagttttatcGcaggatctctgaaagcatct	10	14	7	10	1	3	2	1	2	2	0	6	3	4	3	1	1	1	3	1	1	3	3			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr6:75892975G>A	ENST00000322507.8	-	10	1991	c.1682C>T	c.(1681-1683)gCg>gTg	p.A561V	COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Missense_Mutation_p.A561V|COL12A1_ENST00000483888.2_Missense_Mutation_p.A561V	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	561	VWFA 2.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CAGTTTTATCGCAGGATCTCT	0.443													18	131					0	0	0.007413	0	0	A	75892975	G	A	75892975	3	1	116	1	0	0	0	0	1	0	0	0	3692	1087	38	1	7737	1	COL12A1	6	75892975	Missense_Mutation	SNP	G	TCGA-G9-6329-01A-13D-1961-08		75892975	95222092	12	5943											
MDN1	23195	broad.mit.edu	37	chr6	90426386	90426386	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttgcagaagttaacattGtccatcagaagccagtctcc	12	11	7	11	0	2	2	1	0	1	2	4	2	3	2	3	0	4	2	3	0	4	4			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr6:90426386G>A	ENST00000369393.3	-	44	6841	c.6726C>T	c.(6724-6726)gaC>gaT	p.D2242D	MDN1_ENST00000428876.1_Silent_p.D2242D			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2242					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AGTTAACATTGTCCATCAGAA	0.463													8	51					0	0	0.006214	0	0	A	90426386	G	A	90426386	2	1	116	1	0	0	0	0	0	0	0	1	9465	1368	48	2		2	MDN1	6	90426386	Silent	SNP	G	TCGA-G9-6329-01A-13D-1961-08	14533411	90426386	80688681	13	5944											
CCDC129	223075	broad.mit.edu	37	chr7	31617858	31617858	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgtgatgatttgctaccttAtcctcctcatggtcttctga	6	17	7	11	0	3	3	1	3	2	0	5	3	5	3	3	1	2	1	3	1	2	4			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr7:31617858A>G	ENST00000409210.1	+	6	888	c.704A>G	c.(703-705)tAt>tGt	p.Y235C	CCDC129_ENST00000319386.3_Intron|CCDC129_ENST00000407970.3_Missense_Mutation_p.Y327C|CCDC129_ENST00000451887.2_Missense_Mutation_p.Y353C			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	327										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TTGCTACCTTATCCTCCTCAT	0.512													9	75					0	0	0.006214	0	0	G	31617858	A	G	31617858	3	3	116	1	0	0	0	0	1	0	0	0	2782	449	16	3	1006	3	CCDC129	7	31617858	Missense_Mutation	SNP	A	TCGA-G9-6329-01A-13D-1961-08		31617858	127520805	14	5945											
KIAA1967	0	broad.mit.edu	37	chr8	22472959	22472959	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggcgctttgccgagtttcaGtacctgcagccgggaccccc	5	9	12	15	3	1	0	1	0	0	0	1	2	1	1	5	2	4	4	5	2	1	3			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr8:22472959G>A	ENST00000308511.4	+	12	1476	c.1227G>A	c.(1225-1227)caG>caA	p.Q409Q	RP11-582J16.5_ENST00000521025.1_RNA|KIAA1967_ENST00000520861.1_Silent_p.Q84Q|KIAA1967_ENST00000389279.3_Silent_p.Q409Q			Q8N163	K1967_HUMAN		409					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5)	25		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		CCGAGTTTCAGTACCTGCAGC	0.582													30	132					0	0	0.012213	0	0	A	22472959	G	A	22472959	2	1	116	1	0	0	0	0	0	0	0	1	8307	1020	36	2		2	KIAA1967	8	22472959	Silent	SNP	G	TCGA-G9-6329-01A-13D-1961-08		22472959	123891063	15	5946											
CHD7	55636	broad.mit.edu	37	chr8	61736614	61736614	+	Nonstop_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gattgcactgaacctgaataGaattgttgctgacttgatag	12	13	10	6	0	0	5	0	4	0	1	0	6	0	5	1	0	3	3	1	0	5	6			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr8:61736614G>C	ENST00000525508.1	+	12	3417	c.3417G>C	c.(3415-3417)taG>taC	p.*1139Y	CHD7_ENST00000423902.2_Intron|CHD7_ENST00000524602.1_Intron			Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	0	Helicase ATP-binding.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AACCTGAATAGAATTGTTGCT	0.423													6	81					0	0	0.001168	0	0	C	61736614	G	C	61736614	4	2	116	1	0	0	0	0	0	0	0	0	3352	957	33	4		4	CHD7	8	61736614	Nonstop_Mutation	SNP	G	TCGA-G9-6329-01A-13D-1961-08	39263655	61736614	84627408	16	5947											
COL5A1	1289	broad.mit.edu	37	chr9	137657572	137657572	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggggcccccaggtcctcccGgacctcccgtaagtcccatt	6	7	10	18	2	0	0	0	0	0	0	4	1	4	1	7	4	0	1	7	4	1	2			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr9:137657572G>A	ENST00000371817.3	+	21	2494	c.2080G>A	c.(2080-2082)Gga>Aga	p.G694R		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	694	Triple-helical region.			PPGPPGVT -> VTGEPGAP (in Ref. 4; AA sequence).	axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AGGTCCTCCCGGACCTCCCGT	0.637													21	116					0	0	0.00278	0	0	A	137657572	G	A	137657572	3	1	116	1	0	0	0	0	1	0	0	0	3719	1117	39	1	2162	1	COL5A1	9	137657572	Missense_Mutation	SNP	G	TCGA-G9-6329-01A-13D-1961-08		137657572	3555859	17	5948											
PKD2L1	9033	broad.mit.edu	37	chr10	102048747	102048747	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accactctcctgcccaccctGgactccccaggggtctgggg	5	7	11	18	0	2	0	0	0	2	0	4	1	3	1	6	5	1	0	6	5	0	0			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr10:102048747G>A	ENST00000318222.3	-	15	2699	c.2317C>T	c.(2317-2319)Cag>Tag	p.Q773*	PKD2L1_ENST00000353274.3_Intron|PKD2L1_ENST00000338519.3_Nonsense_Mutation_p.Q698*	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	773					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		TGCCCACCCTGGACTCCCCAG	0.602													15	90					0	0	0.007413	0	0	A	102048747	G	A	102048747	4	1	116	1	0	0	0	0	0	1	0	0	12015	1357	47	2	108	2	PKD2L1	10	102048747	Nonsense_Mutation	SNP	G	TCGA-G9-6329-01A-13D-1961-08		102048747	33486000	18	5949											
OR4P4	81300	broad.mit.edu	37	chr11	55406192	55406192	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacagggatggcctatgaccGctatgtggccatttgcaagc	9	9	12	11	1	0	1	0	1	0	0	0	2	0	2	3	3	2	2	3	3	3	3	rs143338269	byFrequency	TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr11:55406192G>A	ENST00000314612.2	+	1	359	c.359G>A	c.(358-360)cGc>cAc	p.R120H		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						GCCTATGACCGCTATGTGGCC	0.403													16	41					0	0	0.004007	0	0	A	55406192	G	A	55406192	3	1	116	1	0	0	0	0	1	0	0	0	11128	1087	38	1	361	1	OR4P4	11	55406192	Missense_Mutation	SNP	G	TCGA-G9-6329-01A-13D-1961-08		55406192	79600324	19	5950											
PRPF19	27339	broad.mit.edu	37	chr11	60666069	60666069	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgttccaaagatgagtcCgtcagggtggaactgtgcac	9	10	12	10	1	1	2	1	1	0	1	4	3	4	3	3	2	2	2	3	2	2	1			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr11:60666069C>A	ENST00000227524.4	-	13	1289	c.1084G>T	c.(1084-1086)Gga>Tga	p.G362*		NM_014502.4	NP_055317.1	Q9UMS4	PRP19_HUMAN	pre-mRNA processing factor 19	362					DNA repair|protein polyubiquitination|spliceosome assembly	catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex	DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						AAGATGAGTCCGTCAGGGTGG	0.562													9	56					0.000274275	0.000335987	0.004482	1	0	A	60666069	C	A	60666069	4	1	116	1	0	0	0	0	0	1	0	0	12616	661	23	4	446	4	PRPF19	11	60666069	Nonsense_Mutation	SNP	C	TCGA-G9-6329-01A-13D-1961-08	5259877	60666069	74340447	20	5951											
DNAH3	55567	broad.mit.edu	37	chr16	21109952	21109952	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaacctcaaactctgcaaaCgcccgatttaggttctttga	12	11	6	12	2	3	1	1	1	2	0	3	2	3	1	2	1	4	2	2	1	4	4			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr16:21109952C>T	ENST00000261383.3	-	17	2504	c.2505G>A	c.(2503-2505)gcG>gcA	p.A835A	DNAH3_ENST00000415178.1_Silent_p.A835A	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	835	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ACTCTGCAAACGCCCGATTTA	0.403													7	119					0	0	0.00308	0	0	T	21109952	C	T	21109952	2	4	116	1	0	0	0	0	0	0	0	1	4631	523	19	1		1	DNAH3	16	21109952	Silent	SNP	C	TCGA-G9-6329-01A-13D-1961-08		21109952	69244801	21	5952											
ERN2	10595	broad.mit.edu	37	chr16	23716455	23716455	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcccatcccgcaggacgcCaggtggctcatgtctgccga	7	6	13	15	3	2	0	1	0	1	0	3	2	3	1	4	4	1	2	4	4	0	0			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr16:23716455C>T	ENST00000256797.4	-	8	915	c.747G>A	c.(745-747)ctG>ctA	p.L249L	ERN2_ENST00000457008.2_Silent_p.L201L	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	201					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CGCAGGACGCCAGGTGGCTCA	0.637													5	50					0	0	0.000602	0	0	T	23716455	C	T	23716455	2	4	116	1	0	0	0	0	0	0	0	1	5266	581	21	2		2	ERN2	16	23716455	Silent	SNP	C	TCGA-G9-6329-01A-13D-1961-08	2606503	23716455	66638298	22	5953											
WIPI1	55062	broad.mit.edu	37	chr17	66425017	66425017	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctccatcctgaggatccaaAttgtacatataaaggtgtcc	12	11	7	11	0	0	1	0	1	0	0	4	2	4	2	5	2	1	1	5	2	5	4			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr17:66425017A>C	ENST00000262139.5	-	10	1025	c.1026T>G	c.(1024-1026)aaT>aaG	p.N342K	WIPI1_ENST00000546360.1_Missense_Mutation_p.N260K|WIPI1_ENST00000589459.1_5'UTR	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	342					macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						GAGGATCCAAATTGTACATAT	0.468													4	56					0	0	0.000602	0	0	C	66425017	A	C	66425017	3	2	116	1	0	0	0	0	1	0	0	0	17430	98	4	5	330	5	WIPI1	17	66425017	Missense_Mutation	SNP	A	TCGA-G9-6329-01A-13D-1961-08		66425017	14770193	23	5954											
CBX4	8535	broad.mit.edu	37	chr17	77809099	77809099	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtactgatgcccctggccCttcccctgcgcgcccaaatc	5	9	8	19	3	0	1	0	1	0	0	3	1	1	1	6	1	3	1	6	1	2	2			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr17:77809099C>T	ENST00000269397.4	-	5	519	c.342G>A	c.(340-342)aaG>aaA	p.K114K	CBX4_ENST00000448310.1_3'UTR	NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	114	Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GCCCCTGGCCCTTCCCCTGCG	0.657											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	127					0	0	0.00499	0	0	T	77809099	C	T	77809099	2	4	116	1	0	0	0	0	0	0	0	1	2738	680	24	2		2	CBX4	17	77809099	Silent	SNP	C	TCGA-G9-6329-01A-13D-1961-08	11384082	77809099	3386111	24	5955											
ABHD8	79575	broad.mit.edu	37	chr19	17411726	17411726	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcttgaagattgctcgcaTgtcctcagccagcgcataga	9	9	11	12	3	1	3	1	1	0	2	3	3	2	3	2	0	3	4	2	0	2	3			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr19:17411726T>C	ENST00000247706.3	-	2	939	c.700A>G	c.(700-702)Atg>Gtg	p.M234V	MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000595444.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	234							hydrolase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						ATTGCTCGCATGTCCTCAGCC	0.617													13	143					0	0	0.00245	0	0	C	17411726	T	C	17411726	3	2	116	1	0	0	0	0	1	0	0	0	87	1464	51	3	635	3	ABHD8	19	17411726	Missense_Mutation	SNP	T	TCGA-G9-6329-01A-13D-1961-08		17411726	41717257	25	5956											
ZNF675	171392	broad.mit.edu	37	chr19	23837046	23837046	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagttctgtcacattcttgaCatttgtagagtttctcacaa	11	16	6	8	0	4	2	2	1	3	1	5	2	4	2	0	0	0	3	0	0	3	6			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr19:23837046C>T	ENST00000359788.4	-	4	857	c.689G>A	c.(688-690)tGt>tAt	p.C230Y	ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000600313.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	230					bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				ACATTCTTGACATTTGTAGAG	0.308													12	37					0	0	0.001855	0	0	T	23837046	C	T	23837046	3	4	116	1	0	0	0	0	1	0	0	0	18139	478	17	2	1021	2	ZNF675	19	23837046	Missense_Mutation	SNP	C	TCGA-G9-6329-01A-13D-1961-08	6425320	23837046	35291937	26	5957											
ESF1	51575	broad.mit.edu	37	chr20	13763318	13763318	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttgtgtaaattctttgctatCcttcttcggacttatgtttg	6	21	7	7	1	2	0	0	0	2	0	4	1	3	1	1	1	1	3	1	1	4	9			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr20:13763318C>T	ENST00000202816.1	-	2	576	c.469G>A	c.(469-471)Gat>Aat	p.D157N		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	157	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						TCTTTGCTATCCTTCTTCGGA	0.279													5	34					0	0	0.001168	0	0	T	13763318	C	T	13763318	3	4	116	1	0	0	0	0	1	0	0	0	5279	855	30	2	2138	2	ESF1	20	13763318	Missense_Mutation	SNP	C	TCGA-G9-6329-01A-13D-1961-08		13763318	49262202	27	5958											
RTEL1	51750	broad.mit.edu	37	chr20	62320908	62320908	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccgtggtgtgattgtcacGggcctcccgtaccccccacg	4	8	13	16	4	1	1	1	1	0	0	2	1	2	1	6	3	1	1	6	3	1	2			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr20:62320908G>T	ENST00000318100.4	+	23	2759	c.1932G>T	c.(1930-1932)acG>acT	p.T644T	RTEL1_ENST00000508582.2_Silent_p.T668T|RTEL1_ENST00000370018.3_Silent_p.T644T|RTEL1_ENST00000360203.5_Silent_p.T644T|RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.T644T			Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	644					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			TGATTGTCACGGGCCTCCCGT	0.662													3	49					0.004672	0.00558361	0.004672	1	0	T	62320908	G	T	62320908	2	4	116	1	0	0	0	0	0	0	0	1	13772	1103	39	4		4	RTEL1	20	62320908	Silent	SNP	G	TCGA-G9-6329-01A-13D-1961-08	48557590	62320908	704612	28	5959											
NUP50	10762	broad.mit.edu	37	chr22	45574602	45574602	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcctcatttaatttcggcaAgaaagttgatagctctgttt	10	16	8	7	1	2	2	1	1	1	1	3	2	2	2	1	1	2	4	1	1	4	6			TCGA-G9-6329-01A-13D-1961-08	TCGA-G9-6329-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da75b98c-dc27-4169-b36b-136c6fbd2afe	9586dcd1-086c-4204-b6f8-2fd2965f1c22	g.chr22:45574602A>G	ENST00000347635.3	+	5	1290	c.824A>G	c.(823-825)aAg>aGg	p.K275R	NUP50_ENST00000425733.2_Missense_Mutation_p.K25R|NUP50_ENST00000407019.2_Missense_Mutation_p.K247R|NUP50_ENST00000396096.2_Missense_Mutation_p.K247R	NM_007172.3	NP_009103.2	Q9UKX7	NUP50_HUMAN	nucleoporin 50kDa	275	5 X 2 AA repeats of F-G.|Ser-rich.				carbohydrate metabolic process|glucose transport|intracellular transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore|nucleoplasm	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		AATTTCGGCAAGAAAGTTGAT	0.438													3	20					0	0	0.001984	0	0	G	45574602	A	G	45574602	3	3	116	1	0	0	0	0	1	0	0	0	10814	72	3	3	838	3	NUP50	22	45574602	Missense_Mutation	SNP	A	TCGA-G9-6329-01A-13D-1961-08		45574602	5729964	29	5960											
DENND2D	79961	broad.mit.edu	37	chr1	111737241	111737241	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgatttttctctccagcacGgcagaggcaaagatctgaag	12	10	10	9	1	2	4	0	2	2	2	4	4	3	4	1	2	1	3	1	2	2	2			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr1:111737241G>A	ENST00000357640.4	-	7	982	c.753C>T	c.(751-753)gcC>gcT	p.A251A	DENND2D_ENST00000369752.5_Silent_p.A248A	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	251	DENN.							p.A251A(1)		breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		TCTCCAGCACGGCAGAGGCAA	0.537													13	55					0	0	0.001855	0	0	A	111737241	G	A	111737241	2	1	117	1	0	0	0	0	0	0	0	1	4459	1103	39	1		1	DENND2D	1	111737241	Silent	SNP	G	TCGA-G9-6332-01A-11D-1786-08		111737241	137513380	1	5961											
S100A8	6279	broad.mit.edu	37	chr1	153362715	153362715	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaaccagacgtctgcacccTttttctgtcaagattgagga	10	12	9	10	1	3	4	1	2	2	2	3	5	3	5	2	1	2	1	2	1	2	3			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr1:153362715T>C	ENST00000368733.3	-	3	315	c.146A>G	c.(145-147)aAg>aGg	p.K49R	S100A8_ENST00000477801.1_5'UTR|S100A8_ENST00000368732.1_Missense_Mutation_p.K49R	NM_002964.4	NP_002955.2	P05109	S10A8_HUMAN	S100 calcium binding protein A8	49	EF-hand 2.				chemotaxis	cytoplasm|cytoskeleton|plasma membrane	calcium ion binding|protein binding			breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTCTGCACCCTTTTTCTGTCA	0.507													3	149					0	0	0.004672	0	0	C	153362715	T	C	153362715	3	2	117	1	0	0	0	0	1	0	0	0	13838	1609	56	3	139	3	S100A8	1	153362715	Missense_Mutation	SNP	T	TCGA-G9-6332-01A-11D-1786-08	41625474	153362715	95887906	2	5962											
TBX19	9095	broad.mit.edu	37	chr1	168278015	168278015	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctcaagcaataatctgcaaGttttctcgggacctgacagc	11	10	9	11	1	3	1	1	1	2	0	4	2	3	2	1	1	3	4	1	1	4	3			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr1:168278015G>C	ENST00000367821.3	+	7	1003	c.952G>C	c.(952-954)Gtt>Ctt	p.V318L	TBX19_ENST00000465440.1_3'UTR	NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	318					anatomical structure morphogenesis	nucleus	DNA binding	p.V318L(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					TAATCTGCAAGTTTTCTCGGG	0.463													3	92					0	0	0.004672	0	0	C	168278015	G	C	168278015	3	2	117	1	0	0	0	0	1	0	0	0	15714	1029	36	4	978	4	TBX19	1	168278015	Missense_Mutation	SNP	G	TCGA-G9-6332-01A-11D-1786-08	14915300	168278015	80972606	3	5963											
DPT	1805	broad.mit.edu	37	chr1	168698284	168698284	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cactggtagctgaagccttgCcggttcaaattcacccaccc	9	9	8	15	1	2	1	2	1	0	0	2	1	2	1	4	2	3	3	4	2	3	4			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr1:168698284C>T	ENST00000367817.3	-	1	218	c.129G>A	c.(127-129)cgG>cgA	p.R43R		NM_001937.4	NP_001928.2	Q07507	DERM_HUMAN	dermatopontin	43	2 X 53-55 AA tandem repeats.				cell adhesion	extracellular space|proteinaceous extracellular matrix		p.R43R(1)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12	all_hematologic(923;0.208)					TGAAGCCTTGCCGGTTCAAAT	0.542													4	64					0	0	0.009096	0	0	T	168698284	C	T	168698284	2	4	117	1	0	0	0	0	0	0	0	1	4765	726	26	2		2	DPT	1	168698284	Silent	SNP	C	TCGA-G9-6332-01A-11D-1786-08	420269	168698284	80552337	4	5964											
TTN	7273	broad.mit.edu	37	chr2	179412752	179412752	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttaatgatgacagaagagaAggcttctctgggttcactat	12	12	10	7	0	2	4	1	2	1	2	3	5	2	4	0	2	0	2	0	2	4	4			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr2:179412752A>G	ENST00000589042.1	-	339	93825	c.93601T>C	c.(93601-93603)Ttc>Ctc	p.F31201L	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.F22328L|TTN_ENST00000591111.1_Missense_Mutation_p.F29560L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.F28633L|TTN_ENST00000359218.5_Missense_Mutation_p.F22261L|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.F22136L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29560	Fibronectin type-III 127.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.F22136L(2)|p.F22261L(1)|p.F28633L(1)|p.F28631L(1)|p.F22328L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACAGAAGAGAAGGCTTCTCTG	0.443													33	52					0	0	0.012213	0	0	G	179412752	A	G	179412752	3	3	117	1	0	0	0	0	1	0	0	0	16797	72	3	3	14474	3	TTN	2	179412752	Missense_Mutation	SNP	A	TCGA-G9-6332-01A-11D-1786-08		179412752	63786621	5	5965											
FAT1	2195	broad.mit.edu	37	chr4	187540359	187540359	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cactgacaggttaagactgtAaaatggcttcagggcgtgcc	11	9	12	9	1	1	2	1	1	0	1	1	2	1	2	1	3	1	3	1	3	3	3			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr4:187540359A>G	ENST00000441802.2	-	10	7590	c.7381T>C	c.(7381-7383)Tac>Cac	p.Y2461H		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2461	Cadherin 22.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	p.Y2461H(2)|p.Y2464H(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTAAGACTGTAAAATGGCTTC	0.443										HNSCC(5;0.00058)			6	234					0	0	0.001168	0	0	G	187540359	A	G	187540359	3	3	117	1	0	0	0	0	1	0	0	0	5722	362	13	3	6457	3	FAT1	4	187540359	Missense_Mutation	SNP	A	TCGA-G9-6332-01A-11D-1786-08		187540359	3613917	6	5966											
ADAMTS19	171019	broad.mit.edu	37	chr5	128983512	128983512	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcacctgaacatctggccGgagagtggagcctgtggagt	9	7	15	10	1	1	2	0	1	1	1	1	5	1	4	3	4	3	1	3	4	1	0			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr5:128983512G>A	ENST00000274487.4	+	12	2054	c.1909G>A	c.(1909-1911)Gga>Aga	p.G637R	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	637	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.G637R(2)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		ACATCTGGCCGGAGAGTGGAG	0.522													55	27					0	0	0.01441	0	0	A	128983512	G	A	128983512	3	1	117	1	0	0	0	0	1	0	0	0	263	1117	39	1	1955	1	ADAMTS19	5	128983512	Missense_Mutation	SNP	G	TCGA-G9-6332-01A-11D-1786-08		128983512	51931748	7	5967											
FOXC1	2296	broad.mit.edu	37	chr6	1611154	1611154	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacgctggacccggactcCtacaacatgttcgagaacgg	10	7	12	12	4	0	1	0	0	0	1	2	5	1	4	2	4	3	2	2	4	3	2			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr6:1611154C>T	ENST00000380874.2	+	1	474	c.474C>T	c.(472-474)tcC>tcT	p.S158S		NM_001453.2	NP_001444.2	Q12948	FOXC1_HUMAN	forkhead box C1	158					anti-apoptosis|artery morphogenesis|blood vessel remodeling|brain development|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|germ cell migration|glycosaminoglycan metabolic process|lacrimal gland development|lymphangiogenesis|metanephros development|negative regulation of mitotic cell cycle|neural crest cell fate commitment|Notch signaling pathway|odontogenesis of dentine-containing tooth|ossification|ovarian follicle development|paraxial mesodermal cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	nuclear heterochromatin|transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	p.S158S(2)		large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)		ACCCGGACTCCTACAACATGT	0.627													8	38					0	0	0.00308	0	0	T	1611154	C	T	1611154	2	4	117	1	0	0	0	0	0	0	0	1	6027	668	24	2		2	FOXC1	6	1611154	Silent	SNP	C	TCGA-G9-6332-01A-11D-1786-08		1611154	169503913	8	5968											
RIPK1	8737	broad.mit.edu	37	chr6	3077128	3077128	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggagagtgcagaactggAcagcggaggctttgggaagg	10	6	18	7	1	0	2	0	0	0	2	0	6	0	5	1	6	3	2	1	6	2	1			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr6:3077128A>G	ENST00000259808.4	+	2	369	c.71A>G	c.(70-72)gAc>gGc	p.D24G	RIPK1_ENST00000380409.2_Missense_Mutation_p.D24G|RIPK1_ENST00000541791.1_Missense_Mutation_p.D24G|RIPK1_ENST00000479389.1_Intron			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	24	Protein kinase.				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity	p.D24G(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				GCAGAACTGGACAGCGGAGGC	0.478													8	49					0	0	0.00308	0	0	G	3077128	A	G	3077128	3	3	117	1	0	0	0	0	1	0	0	0	13432	275	10	3	73	3	RIPK1	6	3077128	Missense_Mutation	SNP	A	TCGA-G9-6332-01A-11D-1786-08	1465974	3077128	168037939	9	5969											
VARS	7407	broad.mit.edu	37	chr6	31752254	31752254	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggcacggagagcagggtgCgacctgtcagctccttctta	8	8	13	12	2	2	1	1	0	1	1	3	3	3	1	2	3	3	3	2	3	1	2			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr6:31752254C>T	ENST00000375663.3	-	12	1933	c.1493G>A	c.(1492-1494)cGc>cAc	p.R498H	VARS_ENST00000444930.2_Missense_Mutation_p.R203H	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	498					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity	p.R498H(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	GAGCAGGGTGCGACCTGTCAG	0.597													25	56					0	0	0.00632	0	0	T	31752254	C	T	31752254	3	4	117	1	0	0	0	0	1	0	0	0	17183	768	27	1	2377	1	VARS	6	31752254	Missense_Mutation	SNP	C	TCGA-G9-6332-01A-11D-1786-08	28675126	31752254	139362813	10	5970											
ATF6B	1388	broad.mit.edu	37	chr6	32093899	32093899	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggctgttttattacctgagGaatcatcagaggtggggata	11	12	13	5	0	2	2	2	1	0	1	2	4	2	4	1	5	1	2	1	5	4	4			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr6:32093899G>T	ENST00000375201.4	-	5	509	c.464C>A	c.(463-465)tCc>tAc	p.S155Y	ATF6B_ENST00000468502.1_5'UTR|ATF6B_ENST00000375203.3_Missense_Mutation_p.S158Y			Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	158					response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S158Y(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						ATTACCTGAGGAATCATCAGA	0.507													42	81					5.7616e-29	7.51513e-29	0.01441	1	0	T	32093899	G	T	32093899	3	4	117	1	0	0	0	0	1	0	0	0	1084	1174	41	4	1694	4	ATF6B	6	32093899	Missense_Mutation	SNP	G	TCGA-G9-6332-01A-11D-1786-08	341645	32093899	139021168	11	5971											
LIMK1	3984	broad.mit.edu	37	chr7	73498339	73498339	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgaggttgacgctacttTgttgcacctggagggaagaa	10	10	14	7	1	0	3	0	2	0	1	0	5	0	5	1	3	2	5	1	3	3	4			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr7:73498339T>G	ENST00000336180.2	+	1	70	c.19T>G	c.(19-21)Tgt>Ggt	p.C7G	LIMK1_ENST00000418310.1_Intron	NM_002314.3	NP_002305.1	P53667	LIMK1_HUMAN	LIM domain kinase 1	7					actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)				GACGCTACTTTGTTGCACCTG	0.776													4	5					0	0	0.009096	0	0	G	73498339	T	G	73498339	3	3	117	1	0	0	0	0	1	0	0	0	8841	1812	63	5	21	5	LIMK1	7	73498339	Missense_Mutation	SNP	T	TCGA-G9-6332-01A-11D-1786-08		73498339	85640324	12	5972											
CSMD3	114788	broad.mit.edu	37	chr8	113529332	113529332	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgcaggttattctttcctCtccttgaagttcatatcctg	8	17	6	10	0	3	1	1	1	2	0	6	1	5	1	3	1	1	3	3	1	4	6			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr8:113529332C>T	ENST00000297405.5	-	28	4931	c.4687G>A	c.(4687-4689)Gag>Aag	p.E1563K	CSMD3_ENST00000455883.2_Missense_Mutation_p.E1459K|CSMD3_ENST00000352409.3_Missense_Mutation_p.E1563K|CSMD3_ENST00000343508.3_Missense_Mutation_p.E1523K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1563	Sushi 8.					integral to membrane|plasma membrane		p.E1563K(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATTCTTTCCTCTCCTTGAAGT	0.438										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			32	66					0	0	0.009535	0	0	T	113529332	C	T	113529332	3	4	117	1	0	0	0	0	1	0	0	0	3971	922	32	2	6612	2	CSMD3	8	113529332	Missense_Mutation	SNP	C	TCGA-G9-6332-01A-11D-1786-08		113529332	32834690	13	5973											
SEPHS1	22929	broad.mit.edu	37	chr10	13375855	13375855	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcagacagtggtagccacTcctcccaggacaatccaggg	10	6	12	13	0	0	1	0	0	0	1	3	2	3	2	4	4	1	2	4	4	2	1			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr10:13375855T>C	ENST00000327347.5	-	5	897	c.522A>G	c.(520-522)ggA>ggG	p.G174G	SEPHS1_ENST00000545675.1_Silent_p.G174G|SEPHS1_ENST00000537130.1_Silent_p.G107G|SEPHS1_ENST00000378614.4_Silent_p.G174G	NM_001195602.1|NM_012247.4	NP_001182531.1|NP_036379.2	P49903	SPS1_HUMAN	selenophosphate synthetase 1	174					protein modification process		ATP binding|GTP binding|selenide, water dikinase activity	p.G174G(2)		cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1)	16						TGGTAGCCACTCCTCCCAGGA	0.438													16	28					0	0	0.00499	0	0	C	13375855	T	C	13375855	2	2	117	1	0	0	0	0	0	0	0	1	14108	1538	54	3		3	SEPHS1	10	13375855	Silent	SNP	T	TCGA-G9-6332-01A-11D-1786-08		13375855	122158892	14	5974											
HPS1	3257	broad.mit.edu	37	chr10	100177455	100177455	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgacagcctcggttgggcGgttcttgctgtagtagcgca	5	11	14	11	3	1	1	0	1	1	0	2	1	1	1	2	3	3	6	2	3	2	5			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr10:100177455G>A	ENST00000325103.6	-	20	2202	c.1969C>T	c.(1969-1971)Cgc>Tgc	p.R657C	HPS1_ENST00000361490.4_Missense_Mutation_p.R657C|HPS1_ENST00000467246.1_5'UTR	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	657					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity	p.R657C(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		TCGGTTGGGCGGTTCTTGCTG	0.662									Hermansky-Pudlak syndrome				21	31					0	0	0.00333	0	0	A	100177455	G	A	100177455	3	1	117	1	0	0	0	0	1	0	0	0	7380	1116	39	1	137	1	HPS1	10	100177455	Missense_Mutation	SNP	G	TCGA-G9-6332-01A-11D-1786-08	86801600	100177455	35357292	15	5975											
KCNJ11	3767	broad.mit.edu	37	chr11	17409274	17409274	+	Missense_Mutation	SNP	A	A	C																															cttggacctcaatggagaaaAggaaggcagacgagaaggag																										TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr11:17409274A>C	ENST00000339994.4	-	1	932	c.365T>G	c.(364-366)cTt>cGt	p.L122R	KCNJ11_ENST00000528731.1_Missense_Mutation_p.L35R	NM_000525.3	NP_000516.3	B4DWI4	B4DWI4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 11	35						integral to membrane	ATP-activated inward rectifier potassium channel activity	p.L122R(1)		endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)		AATGGAGAAAAGGAAGGCAGA	0.607													8	41					0	0	0.004482	0	0	C	17409274	A	C	17409274	3	2	117	1	0	0	0	0	1	0	0	0	8089	72	3	5	811	5	KCNJ11	11	17409274	Missense_Mutation	SNP	A	TCGA-G9-6332-01A-11D-1786-08		17409274	117597242	16	5976	32	2									
KCNJ11	3767	broad.mit.edu	37	chr11	17409276	17409276	+	Silent	SNP	G	G	A																															tggacctcaatggagaaaagGaaggcagacgagaaggagtg																										TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr11:17409276G>A	ENST00000339994.4	-	1	930	c.363C>T	c.(361-363)ttC>ttT	p.F121F	KCNJ11_ENST00000528731.1_Silent_p.F34F	NM_000525.3	NP_000516.3	B4DWI4	B4DWI4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 11	34						integral to membrane	ATP-activated inward rectifier potassium channel activity	p.F121F(1)		endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)		TGGAGAAAAGGAAGGCAGACG	0.607													8	41					0	0	0.006214	0	0	A	17409276	G	A	17409276	2	1	117	1	0	0	0	0	0	0	0	1	8089	1165	41	2		2	KCNJ11	11	17409276	Silent	SNP	G	TCGA-G9-6332-01A-11D-1786-08	2	17409276	117597240	17	5977	32	2									
CCDC34	91057	broad.mit.edu	37	chr11	27379087	27379087	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttctgattcaacctgagTgctacaaaagagaggctact	13	12	8	8	0	2	3	1	2	1	1	2	4	2	3	1	1	4	2	1	1	5	5			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr11:27379087T>C	ENST00000317945.6	-	2	400	c.359_splice	c.e2-1	p.T121_splice	CCDC34_ENST00000328697.6_Splice_Site_p.T121_splice	NM_080654.2	NP_542385.1	Q96HJ3	CCD34_HUMAN	coiled-coil domain containing 34	121								p.T121A(2)		endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|urinary_tract(1)	9						TCAACCTGAGTGCTACAAAAG	0.398													17	75					0	0	0.00499	0	0	C	27379087	T	C	27379087	5	2	117	1	0	0	0	0	0	0	1	0	2826	1710	59	3	864	3	CCDC34	11	27379087	Splice_Site	SNP	T	TCGA-G9-6332-01A-11D-1786-08	9969811	27379087	107627429	18	5978											
OR4C3	256144	broad.mit.edu	37	chr11	48347071	48347071	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtcctttggttgcccttCtgtgggcccaatgtgatcaa	5	14	11	11	0	2	1	1	1	1	0	3	1	3	1	3	3	1	1	3	3	2	3	rs138317832		TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr11:48347071C>A	ENST00000319856.4	+	1	600	c.579C>A	c.(577-579)ttC>ttA	p.F193L		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F193L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						GGTTGCCCTTCTGTGGGCCCA	0.532													23	63					1.96895e-08	2.46118e-08	0.00278	1	0	A	48347071	C	A	48347071	3	1	117	1	0	0	0	0	1	0	0	0	11098	912	32	4	581	4	OR4C3	11	48347071	Missense_Mutation	SNP	C	TCGA-G9-6332-01A-11D-1786-08	20967984	48347071	86659445	19	5979											
MPEG1	219972	broad.mit.edu	37	chr11	58978336	58978336	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaggtgataacaacagccAgaatggtggtgacccccact	13	6	10	12	0	0	3	0	2	0	1	0	3	0	3	4	3	3	0	4	3	4	1			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr11:58978336A>C	ENST00000361050.3	-	1	2088	c.2003T>G	c.(2002-2004)cTg>cGg	p.L668R		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	668						integral to membrane		p.L668R(1)		NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				AACAACAGCCAGAATGGTGGT	0.557													32	79					0	0	0.013726	0	0	C	58978336	A	C	58978336	3	2	117	1	0	0	0	0	1	0	0	0	9772	188	7	5	151	5	MPEG1	11	58978336	Missense_Mutation	SNP	A	TCGA-G9-6332-01A-11D-1786-08	10631265	58978336	76028180	20	5980											
OR4D9	390199	broad.mit.edu	37	chr11	59282589	59282589	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctccgcaacctgtctatTcttgacatctgcttttcctc	5	16	5	15	1	3	1	0	1	3	0	6	1	5	1	3	0	3	3	3	0	2	5			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr11:59282589T>G	ENST00000329328.3	+	1	204	c.204T>G	c.(202-204)atT>atG	p.I68M		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I68M(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						ACCTGTCTATTCTTGACATCT	0.443													79	123					0	0	0.01441	0	0	G	59282589	T	G	59282589	3	3	117	1	0	0	0	0	1	0	0	0	11107	1771	62	5	206	5	OR4D9	11	59282589	Missense_Mutation	SNP	T	TCGA-G9-6332-01A-11D-1786-08	304253	59282589	75723927	21	5981											
SPTBN2	6712	broad.mit.edu	37	chr11	66457286	66457286	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctcacccacctcctcggccGcatagtggctcctggccagc	5	7	9	20	2	1	0	1	0	0	0	4	0	3	0	7	3	1	2	7	3	1	1			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr11:66457286G>A	ENST00000533211.1	-	29	6270	c.5939C>T	c.(5938-5940)gCg>gTg	p.A1980V	SPTBN2_ENST00000309996.2_Missense_Mutation_p.A1980V|SPTBN2_ENST00000529997.1_Missense_Mutation_p.A1980V			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1980					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CTCCTCGGCCGCATAGTGGCT	0.602													4	141					0	0	0.009096	0	0	A	66457286	G	A	66457286	3	1	117	1	0	0	0	0	1	0	0	0	15176	1087	38	1	1273	1	SPTBN2	11	66457286	Missense_Mutation	SNP	G	TCGA-G9-6332-01A-11D-1786-08	7174697	66457286	68549230	22	5982											
ADRBK1	156	broad.mit.edu	37	chr11	67052768	67052768	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgtgcagagcgaccctgaGctggtgcagtggaagaagga	11	6	16	8	1	0	3	0	1	0	2	0	6	0	5	1	3	4	3	1	3	2	0			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr11:67052768G>A	ENST00000308595.5	+	21	2207	c.1917G>A	c.(1915-1917)gaG>gaA	p.E639E	ADRBK1_ENST00000526285.1_Intron	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	639	PH.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity	p.E639E(2)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	GCGACCCTGAGCTGGTGCAGT	0.697													21	31					0	0	0.010504	0	0	A	67052768	G	A	67052768	2	1	117	1	0	0	0	0	0	0	0	1	342	962	34	2		2	ADRBK1	11	67052768	Silent	SNP	G	TCGA-G9-6332-01A-11D-1786-08	595482	67052768	67953748	23	5983											
OR10G8	219869	broad.mit.edu	37	chr11	123900753	123900753	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgactgggcgctcgtgtactCttctggccaccagcacttgg	5	11	12	13	2	2	1	0	1	2	0	3	1	2	1	2	3	2	3	2	3	1	3			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr11:123900753C>T	ENST00000431524.1	+	1	457	c.424C>T	c.(424-426)Ctt>Ttt	p.L142F		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L142F(1)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CTCGTGTACTCTTCTGGCCAC	0.557													6	152					0	0	0.001168	0	0	T	123900753	C	T	123900753	3	4	117	1	0	0	0	0	1	0	0	0	10951	913	32	2	426	2	OR10G8	11	123900753	Missense_Mutation	SNP	C	TCGA-G9-6332-01A-11D-1786-08	56847985	123900753	11105763	24	5984											
RASAL1	8437	broad.mit.edu	37	chr12	113544983	113544983	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagcaggaaggggtgcagggGggccatccacagttccttgc	8	6	16	11	0	0	0	0	0	0	0	2	1	2	1	3	6	3	3	3	6	1	2			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr12:113544983G>T	ENST00000546530.1	-	16	1864	c.1579C>A	c.(1579-1581)Ccc>Acc	p.P527T	RASAL1_ENST00000261729.5_Missense_Mutation_p.P526T|RASAL1_ENST00000446861.3_Missense_Mutation_p.P526T|RASAL1_ENST00000548055.1_Missense_Mutation_p.P526T|RASAL1_ENST00000418411.2_5'UTR	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	526					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity	p.P526T(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						GGGTGCAGGGGGGCCATCCAC	0.622													18	30					2.48551e-13	3.17299e-13	0.00499	1	0	T	113544983	G	T	113544983	3	4	117	1	0	0	0	0	1	0	0	0	13115	1232	43	4	866	4	RASAL1	12	113544983	Missense_Mutation	SNP	G	TCGA-G9-6332-01A-11D-1786-08		113544983	20306912	25	5985											
HCN4	10021	broad.mit.edu	37	chr15	73615456	73615456	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgtgggggtgtctctggcGtgctcagtgggccagtggcc	2	9	19	11	2	2	0	1	0	1	0	3	0	2	0	3	5	1	1	3	5	0	0			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr15:73615456G>T	ENST00000261917.3	-	8	3971	c.2978C>A	c.(2977-2979)aCg>aAg	p.T993K		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	993	Pro-rich.				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	p.T993K(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		TGTCTCTGGCGTGCTCAGTGG	0.697													7	13					0.000157383	0.000192714	0.00308	1	0	T	73615456	G	T	73615456	3	4	117	1	0	0	0	0	1	0	0	0	7040	1145	40	4	637	4	HCN4	15	73615456	Missense_Mutation	SNP	G	TCGA-G9-6332-01A-11D-1786-08		73615456	28915936	26	5986											
AGBL1	123624	broad.mit.edu	37	chr15	86838596	86838596	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtcccttggtgaccatcacGgccatgcctgagtccaacag	8	9	10	14	1	1	2	1	2	0	0	3	2	3	2	5	2	2	0	5	2	1	1			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr15:86838596G>A	ENST00000441037.2	+	16	2288	c.2193G>A	c.(2191-2193)acG>acA	p.T731T	AGBL1_ENST00000421325.2_Silent_p.T731T|AGBL1_ENST00000389298.3_Silent_p.T462T	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	731					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	p.T731T(1)		NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TGACCATCACGGCCATGCCTG	0.498													37	68					0	0	0.007835	0	0	A	86838596	G	A	86838596	2	1	117	1	0	0	0	0	0	0	0	1	372	1103	39	1		1	AGBL1	15	86838596	Silent	SNP	G	TCGA-G9-6332-01A-11D-1786-08	13223140	86838596	15692796	27	5987											
CDH5	1003	broad.mit.edu	37	chr16	66436911	66436911	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgacacgctgcacatctacGgctacgagggctccgagtcc	9	6	11	15	5	1	0	0	0	1	0	3	3	3	0	2	2	3	4	2	2	2	2			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr16:66436911G>A	ENST00000341529.3	+	12	2342	c.2194G>A	c.(2194-2196)Ggc>Agc	p.G732S	CDH5_ENST00000539168.1_Missense_Mutation_p.G171S	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	732					adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding	p.G732S(1)		central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		GCACATCTACGGCTACGAGGG	0.642													11	19					0	0	0.010729	0	0	A	66436911	G	A	66436911	3	1	117	1	0	0	0	0	1	0	0	0	3135	1116	39	1	2236	1	CDH5	16	66436911	Missense_Mutation	SNP	G	TCGA-G9-6332-01A-11D-1786-08		66436911	23917842	28	5988											
ARHGEF15	22899	broad.mit.edu	37	chr17	8221715	8221715	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtccccagaatatcctgcGccagacagaagaggggtcca	11	7	11	12	1	0	4	0	0	0	4	3	4	3	4	5	2	1	0	5	2	3	2			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr17:8221715G>A	ENST00000361926.3	+	10	1825	c.1715G>A	c.(1714-1716)cGc>cAc	p.R572H	AC135178.7_ENST00000458568.1_RNA|ARHGEF15_ENST00000421050.1_Missense_Mutation_p.R572H	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	572	DH.				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.R572H(1)		breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						AATATCCTGCGCCAGACAGAA	0.627													47	84					0	0	0.01441	0	0	A	8221715	G	A	8221715	3	1	117	1	0	0	0	0	1	0	0	0	895	1087	38	1	1749	1	ARHGEF15	17	8221715	Missense_Mutation	SNP	G	TCGA-G9-6332-01A-11D-1786-08		8221715	72973495	29	5989											
KRT222	125113	broad.mit.edu	37	chr17	38821349	38821349	+	Translation_Start_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagtagctgggacagttcCattcttttcccatcctccac	7	14	7	13	0	1	1	0	1	1	0	5	2	5	2	4	1	1	3	4	1	1	6			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr17:38821349C>A	ENST00000476049.1	-	1	44	c.3G>T	c.(1-3)atG>atT	p.M1I	KRT222_ENST00000394052.3_Start_Codon_SNP_p.M1I			Q8N1A0	KT222_HUMAN	keratin 222	1						intermediate filament	structural molecule activity	p.M1I(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						GGGACAGTTCCATTCTTTTCC	0.512													4	125					0.00024832	0.000292141	0.009096	1	0	A	38821349	C	A	38821349	1	1	117	1	0	0	0	0	0	0	0	0	8502	594	21	4		4	KRT222	17	38821349	Translation_Start_Site	SNP	C	TCGA-G9-6332-01A-11D-1786-08	30599634	38821349	42373861	30	5990											
PRKCSH	5589	broad.mit.edu	37	chr19	11552168	11552168	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagaaggcacgggaggagaAgcaggtaaggaacccgcggg	14	1	19	7	3	0	2	0	0	0	2	0	6	0	4	1	6	2	3	1	6	5	1			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr19:11552168A>G	ENST00000252455.2	+	6	800	c.464A>G	c.(463-465)aAg>aGg	p.K155R	PRKCSH_ENST00000412601.1_Missense_Mutation_p.K155R|PRKCSH_ENST00000591462.1_Missense_Mutation_p.K155R|PRKCSH_ENST00000592741.1_Missense_Mutation_p.K155R|PRKCSH_ENST00000587327.1_Missense_Mutation_p.K155R|PRKCSH_ENST00000589838.1_Missense_Mutation_p.K155R	NM_002743.2	NP_002734.2	P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	155					innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding	p.K155R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						CGGGAGGAGAAGCAGGTAAGG	0.612													52	113					0	0	0.01441	0	0	G	11552168	A	G	11552168	3	3	117	1	0	0	0	0	1	0	0	0	12568	72	3	3	482	3	PRKCSH	19	11552168	Missense_Mutation	SNP	A	TCGA-G9-6332-01A-11D-1786-08		11552168	47576815	31	5991											
CABP5	56344	broad.mit.edu	37	chr19	48533840	48533840	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agacatcatcttcacaaactCtgcaaagaaaaaaaaaaatc	22	7	3	9	0	4	2	2	0	2	2	5	2	4	2	0	0	2	1	0	0	7	1			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr19:48533840C>T	ENST00000293255.2	-	6	627		c.e6-1			NM_019855.4	NP_062829.1	Q9NP86	CABP5_HUMAN	calcium binding protein 5						signal transduction	cytoplasm	calcium ion binding	p.?(1)		endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	11		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)		TTCACAAACTCTGCAAAGAAA	0.493													31	62					0	0	0.003755	0	0	T	48533840	C	T	48533840	5	4	117	1	0	0	0	0	0	0	1	0	2552	927	32	2	29	2	CABP5	19	48533840	Splice_Site	SNP	C	TCGA-G9-6332-01A-11D-1786-08	36981672	48533840	10595143	32	5992											
SNAP25	6616	broad.mit.edu	37	chr20	10273562	10273562	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcgaagaaggcatgaacCatatcaaccaagacatgaag	17	6	10	8	1	1	4	1	2	0	2	2	5	1	4	2	1	2	1	2	1	7	1			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr20:10273562C>G	ENST00000304886.2	+	5	404	c.196C>G	c.(196-198)Cat>Gat	p.H66D	SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000453544.1_RNA|SNAP25_ENST00000254976.2_Intron	NM_003081.3	NP_003072.2	P60880	SNP25_HUMAN	synaptosomal-associated protein, 25kDa	66	Interaction with CENPF (By similarity).|t-SNARE coiled-coil homology 1.				energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis	cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome		p.H66D(1)		endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18					Botulinum Toxin Type A(DB00083)	AGGCATGAACCATATCAACCA	0.413													12	84					0	0	0.013537	0	0	G	10273562	C	G	10273562	3	3	117	1	0	0	0	0	1	0	0	0	14884	594	21	4	210	4	SNAP25	20	10273562	Missense_Mutation	SNP	C	TCGA-G9-6332-01A-11D-1786-08		10273562	52751958	33	5993											
ADAMTS5	11096	broad.mit.edu	37	chr21	28315754	28315754	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtgcatttggaccagggCttagatgcatcaatgctggt	10	11	13	7	0	1	1	1	0	0	1	1	3	1	2	1	3	3	4	1	3	3	2			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr21:28315754C>A	ENST00000284987.5	-	3	1471	c.1350G>T	c.(1348-1350)aaG>aaT	p.K450N		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	450	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	p.K450N(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						TGGACCAGGGCTTAGATGCAT	0.448													4	34					0.00024832	0.000292141	0.009096	1	0	A	28315754	C	A	28315754	3	1	117	1	0	0	0	0	1	0	0	0	268	796	28	4	1466	4	ADAMTS5	21	28315754	Missense_Mutation	SNP	C	TCGA-G9-6332-01A-11D-1786-08		28315754	19814141	34	5994											
KIF1B	23095	broad.mit.edu	37	chr1	10342413	10342413	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcagaacaataagcatagatActtgctagcctctgagaatc	15	10	7	9	0	2	3	1	1	1	3	3	4	2	3	1	0	5	2	1	0	7	5			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr1:10342413A>G	ENST00000377086.1	+	15	1458	c.1256A>G	c.(1255-1257)tAc>tGc	p.Y419C	KIF1B_ENST00000377083.1_Intron|KIF1B_ENST00000377093.4_Intron|KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377081.1_Missense_Mutation_p.Y419C			O60333	KIF1B_HUMAN	kinesin family member 1B	419					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		AAGCATAGATACTTGCTAGCC	0.453													13	37					0	0	0.00245	0	0	G	10342413	A	G	10342413	3	3	118	1	0	0	0	0	1	0	0	0	8326	406	14	3		3	KIF1B	1	10342413	Missense_Mutation	SNP	A	TCGA-G9-6333-01A-12D-1961-08		10342413	238908208	1	5995											
PHTF1	10745	broad.mit.edu	37	chr1	114254647	114254647	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggccccttccacactcctaCgcaataatatcatctgtgtc	10	11	5	15	1	2	0	1	0	1	0	5	0	4	0	4	1	1	1	4	1	4	4			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr1:114254647C>T	ENST00000369604.1	-	9	1355	c.872G>A	c.(871-873)cGt>cAt	p.R291H	PHTF1_ENST00000369596.2_Missense_Mutation_p.R238H|PHTF1_ENST00000357783.2_Missense_Mutation_p.R291H|PHTF1_ENST00000393357.2_Missense_Mutation_p.R291H|PHTF1_ENST00000369598.1_Missense_Mutation_p.R246H|PHTF1_ENST00000474926.1_5'UTR|PHTF1_ENST00000447664.2_3'UTR|PHTF1_ENST00000369600.1_Missense_Mutation_p.R238H			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	291						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CACACTCCTACGCAATAATAT	0.413													22	63					0	0	0.016522	0	0	T	114254647	C	T	114254647	3	4	118	1	0	0	0	0	1	0	0	0	11910	536	19	1	1460	1	PHTF1	1	114254647	Missense_Mutation	SNP	C	TCGA-G9-6333-01A-12D-1961-08	103912234	114254647	134995974	2	5996											
RXRG	6258	broad.mit.edu	37	chr1	165370515	165370515	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggggctcaggtgatctgcagCggggtctccaacatctccat	7	9	13	12	1	4	1	1	1	3	0	6	1	4	1	2	5	3	2	2	5	1	0	rs149087358	byFrequency	TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr1:165370515C>T	ENST00000359842.5	-	10	1679	c.1377G>A	c.(1375-1377)ccG>ccA	p.P459P		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	459	Ligand-binding (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	TGATCTGCAGCGGGGTCTCCA	0.607													22	94					0	0	0.00333	0	0	T	165370515	C	T	165370515	2	4	118	1	0	0	0	0	0	0	0	1	13817	755	27	1		1	RXRG	1	165370515	Silent	SNP	C	TCGA-G9-6333-01A-12D-1961-08	51115868	165370515	83880106	3	5997											
KIF21B	23046	broad.mit.edu	37	chr1	200972744	200972744	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tccatcagctccatctgcagCcgagcaatctcagcccgcag	9	7	8	17	2	3	0	2	0	2	0	6	1	5	0	4	0	5	4	4	0	1	0			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr1:200972744C>T	ENST00000332129.2	-	8	1498	c.1182G>A	c.(1180-1182)cgG>cgA	p.R394R	KIF21B_ENST00000360529.5_Silent_p.R394R|KIF21B_ENST00000461742.2_Silent_p.R394R|KIF21B_ENST00000422435.2_Silent_p.R394R	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	394					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R394R(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CCATCTGCAGCCGAGCAATCT	0.562													18	69					0	0	0.007413	0	0	T	200972744	C	T	200972744	2	4	118	1	0	0	0	0	0	0	0	1	8331	726	26	2		2	KIF21B	1	200972744	Silent	SNP	C	TCGA-G9-6333-01A-12D-1961-08	35602229	200972744	48277877	4	5998											
OBSCN	84033	broad.mit.edu	37	chr1	228433202	228433202	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccatgctgagctgtgaggtGgcccagccccagacagaggt	8	6	15	12	0	0	4	0	2	0	2	0	4	0	4	4	3	3	2	4	3	0	0			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr1:228433202G>C	ENST00000570156.2	+	13	3920	c.3846G>C	c.(3844-3846)gtG>gtC	p.V1282V	OBSCN_ENST00000422127.1_Silent_p.V1190V|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.V1190V	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	261	Ig-like 13.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCTGTGAGGTGGCCCAGCCCC	0.607													11	71					0	0	0.001855	0	0	C	228433202	G	C	228433202	2	2	118	1	0	0	0	0	0	0	0	1	10860	1335	47	4		4	OBSCN	1	228433202	Silent	SNP	G	TCGA-G9-6333-01A-12D-1961-08	27460458	228433202	20817419	5	5999											
RYR2	6262	broad.mit.edu	37	chr1	237711848	237711848	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgcacataatgtgtgggcGcgggatcgaatccggcaggg	10	7	16	8	4	0	0	0	0	0	0	2	2	1	1	1	4	1	2	1	4	3	1			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr1:237711848G>A	ENST00000366574.2	+	26	3341	c.3024G>A	c.(3022-3024)gcG>gcA	p.A1008A	RYR2_ENST00000360064.6_Silent_p.A1006A|RYR2_ENST00000542537.1_Silent_p.A992A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1008	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATGTGTGGGCGCGGGATCGAA	0.473													12	41					0	0	0.010729	0	0	A	237711848	G	A	237711848	2	1	118	1	0	0	0	0	0	0	0	1	13821	1074	38	1		1	RYR2	1	237711848	Silent	SNP	G	TCGA-G9-6333-01A-12D-1961-08	9278646	237711848	11538773	6	6000											
HOXD4	3233	broad.mit.edu	37	chr2	177017450	177017450	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtatctgacaaggcgccGtcggattgaaatcgctcaca	11	8	11	11	4	2	2	1	2	1	0	4	3	2	3	1	3	0	2	1	3	3	2			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr2:177017450G>A	ENST00000306324.3	+	2	960	c.548G>A	c.(547-549)cGt>cAt	p.R183H	HOXD3_ENST00000468418.3_5'UTR	NM_014621.2	NP_055436.2	P09016	HXD4_HUMAN	homeobox D4	183						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		ACAAGGCGCCGTCGGATTGAA	0.527													6	71					0	0	0.001168	0	0	A	177017450	G	A	177017450	3	1	118	1	0	0	0	0	1	0	0	0	7365	1145	40	1	554	1	HOXD4	2	177017450	Missense_Mutation	SNP	G	TCGA-G9-6333-01A-12D-1961-08		177017450	66181923	7	6001											
INPP5D	3635	broad.mit.edu	37	chr2	233925310	233925310	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccatctcccgggcatacgCgctctgcgtgctgtgagtac	5	10	12	14	4	2	1	0	1	2	0	4	1	3	1	2	1	4	4	2	1	2	2			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr2:233925310C>T	ENST00000359570.5	+	1	122	c.122C>T	c.(121-123)gCg>gTg	p.A41V	INPP5D_ENST00000538935.1_Missense_Mutation_p.A41V			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	41	SH2.				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		CGGGCATACGCGCTCTGCGTG	0.612													12	51					0	0	0.010729	0	0	T	233925310	C	T	233925310	3	4	118	1	0	0	0	0	1	0	0	0	7800	768	27	1	124	1	INPP5D	2	233925310	Missense_Mutation	SNP	C	TCGA-G9-6333-01A-12D-1961-08	56907860	233925310	9274063	8	6002											
ROBO1	6091	broad.mit.edu	37	chr3	78685112	78685112	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgatggattgacaaaacGcccatccttcagatttgggc	10	10	9	12	1	1	3	1	2	0	1	2	4	2	4	3	2	1	0	3	2	2	3			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr3:78685112G>A	ENST00000436010.2	-	21	4064	c.3067C>T	c.(3067-3069)Cgt>Tgt	p.R1023C	ROBO1_ENST00000467549.1_Intron|ROBO1_ENST00000495273.1_Missense_Mutation_p.R1017C|ROBO1_ENST00000464233.1_Missense_Mutation_p.R1062C			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1062					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TTGACAAAACGCCCATCCTTC	0.468													6	116					0	0	0.001168	0	0	A	78685112	G	A	78685112	3	1	118	1	0	0	0	0	1	0	0	0	13565	1087	38	1	1807	1	ROBO1	3	78685112	Missense_Mutation	SNP	G	TCGA-G9-6333-01A-12D-1961-08		78685112	119337318	9	6003											
MME	4311	broad.mit.edu	37	chr3	154861330	154861330	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtggggaggctttatgtggaAgcagcatttgctggagagag	9	10	18	4	0	0	1	0	0	0	1	0	5	0	4	0	5	3	4	0	5	2	3			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr3:154861330A>G	ENST00000460393.1	+	13	1407	c.1287A>G	c.(1285-1287)gaA>gaG	p.E429E	MME_ENST00000360490.2_Silent_p.E429E|MME_ENST00000492661.1_Silent_p.E429E|MME_ENST00000493237.1_Silent_p.E429E|MME_ENST00000462745.1_Silent_p.E429E	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	429					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	TTTATGTGGAAGCAGCATTTG	0.413													20	91					0	0	0.010504	0	0	G	154861330	A	G	154861330	2	3	118	1	0	0	0	0	0	0	0	1	9693	69	3	3		3	MME	3	154861330	Silent	SNP	A	TCGA-G9-6333-01A-12D-1961-08	76176218	154861330	43161100	10	6004											
TRIO	7204	broad.mit.edu	37	chr5	14363859	14363859	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agattatctcagacctcgagTcttggaatgatgagctttct	10	14	9	8	1	3	4	1	2	3	2	5	6	3	5	1	1	1	1	1	1	2	3			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr5:14363859T>G	ENST00000344204.4	+	14	2434	c.2410T>G	c.(2410-2412)Tct>Gct	p.S804A	TRIO_ENST00000537187.1_Missense_Mutation_p.S804A|TRIO_ENST00000509967.2_Missense_Mutation_p.S755A	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	804					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					AGACCTCGAGTCTTGGAATGA	0.438													6	85					0	0	0.001168	0	0	G	14363859	T	G	14363859	3	3	118	1	0	0	0	0	1	0	0	0	16613	1667	58	5	2464	5	TRIO	5	14363859	Missense_Mutation	SNP	T	TCGA-G9-6333-01A-12D-1961-08		14363859	166551401	11	6005											
MAST4	375449	broad.mit.edu	37	chr5	66458987	66458987	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atccacaggtactaattcctCccagagcagctcccctagtt	10	10	6	15	0	0	1	0	0	0	1	4	1	4	1	5	1	3	4	5	1	3	5			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr5:66458987C>T	ENST00000404260.3	+	29	4297	c.3989C>T	c.(3988-3990)tCc>tTc	p.S1330F	MAST4_ENST00000261569.7_Missense_Mutation_p.S1133F|MAST4_ENST00000403666.1_Missense_Mutation_p.S1138F|MAST4_ENST00000403625.2_Missense_Mutation_p.S1327F|MAST4_ENST00000405643.1_Missense_Mutation_p.S1148F			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1330	Ser-rich.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		ACTAATTCCTCCCAGAGCAGC	0.552													12	222					0	0	0.001855	0	0	T	66458987	C	T	66458987	3	4	118	1	0	0	0	0	1	0	0	0	9377	855	30	2	4224	2	MAST4	5	66458987	Missense_Mutation	SNP	C	TCGA-G9-6333-01A-12D-1961-08	52095128	66458987	114456273	12	6006											
CAMK4	814	broad.mit.edu	37	chr5	110710553	110710554	+	Frame_Shift_Ins	INS	-	-	A																															attttgccttttaggtggacINSaaaaaaatcgtaagaactga																										TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr5:110710553_110710554insA	ENST00000282356.4	+	3	644_645	c.246_247insA	c.(244-249)gaaaaafs	p.EK82fs	CAMK4_ENST00000512453.1_Frame_Shift_Ins_p.EK82fs	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	82	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		TTTAGGTGGACAAAAAAATCGT	0.376													15	51	---	---	---	---						A	110710554	-	A	110710553	7	5	118	1	0	1	1	0	0	0	0	0	2623	477	17	0	256	0	CAMK4	5	110710553	Frame_Shift_Ins	INS	-	TCGA-G9-6333-01A-12D-1961-08	44251566	110710553	70204707	13	6007											
PHACTR1	221692	broad.mit.edu	37	chr6	13228134	13228134	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caccaaagcaggacctatggGccttccagaaataagacaag	16	5	9	11	0	0	2	0	0	0	2	1	3	1	3	4	2	1	1	4	2	5	3			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr6:13228134G>A	ENST00000379350.1	+	8	1202	c.1073G>A	c.(1072-1074)gGc>gAc	p.G358D	PHACTR1_ENST00000457702.2_Missense_Mutation_p.G213D|PHACTR1_ENST00000332995.7_Missense_Mutation_p.G358D|PHACTR1_ENST00000379345.2_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	358						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			GGACCTATGGGCCTTCCAGAA	0.483													18	160					0	0	0.007413	0	0	A	13228134	G	A	13228134	3	1	118	1	0	0	0	0	1	0	0	0	11857	1203	42	2	1099	2	PHACTR1	6	13228134	Missense_Mutation	SNP	G	TCGA-G9-6333-01A-12D-1961-08		13228134	157886933	14	6008											
SP8	221833	broad.mit.edu	37	chr7	20824912	20824912	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagatgaacaccggctggTgggagccgtcctgcgagtgc	7	7	17	10	3	0	2	0	1	0	1	1	5	1	3	3	4	4	1	3	4	1	0			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr7:20824912T>C	ENST00000361443.4	-	3	707	c.470A>G	c.(469-471)cAc>cGc	p.H157R	SP8_ENST00000418710.2_Missense_Mutation_p.H175R	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor	157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						CACCGGCTGGTGGGAGCCGTC	0.706													4	7					0	0	0.009096	0	0	C	20824912	T	C	20824912	3	2	118	1	0	0	0	0	1	0	0	0	15024	1696	59	3	1006	3	SP8	7	20824912	Missense_Mutation	SNP	T	TCGA-G9-6333-01A-12D-1961-08		20824912	138313751	15	6009											
LMTK2	22853	broad.mit.edu	37	chr7	97823753	97823753	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccatcatcctcagcaacgagGacggaaggcacctgcggagt	11	5	12	13	3	2	0	2	0	0	0	3	4	3	3	3	4	3	2	3	4	2	0			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr7:97823753G>T	ENST00000297293.5	+	11	4269	c.3976G>T	c.(3976-3978)Gac>Tac	p.D1326Y		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1326					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CAGCAACGAGGACGGAAGGCA	0.622													29	89					2.24059e-21	5.62754e-21	0.00632	1	0	T	97823753	G	T	97823753	3	4	118	1	0	0	0	0	1	0	0	0	8900	1174	41	4	4018	4	LMTK2	7	97823753	Missense_Mutation	SNP	G	TCGA-G9-6333-01A-12D-1961-08	76998841	97823753	61314910	16	6010											
AGK	55750	broad.mit.edu	37	chr7	141351367	141351367	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagctgcacgtggagggcacGgagtgtctccaagccagcca	10	5	14	12	2	1	0	0	0	1	0	2	2	1	2	3	3	4	3	3	3	2	0			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr7:141351367G>A	ENST00000355413.4	+	15	1349	c.1089G>A	c.(1087-1089)acG>acA	p.T363T	AGK_ENST00000473247.1_Silent_p.T335T|AGK_ENST00000535825.1_3'UTR	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN	acylglycerol kinase	363					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway	mitochondrial membrane	acylglycerol kinase activity|ATP binding|diacylglycerol kinase activity|NAD+ kinase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					TGGAGGGCACGGAGTGTCTCC	0.552													5	78					0	0	0.001168	0	0	A	141351367	G	A	141351367	2	1	118	1	0	0	0	0	0	0	0	1	380	1103	39	1		1	AGK	7	141351367	Silent	SNP	G	TCGA-G9-6333-01A-12D-1961-08	43527614	141351367	17787296	17	6011											
ESYT2	57488	broad.mit.edu	37	chr7	158534551	158534551	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacttgagctgagtgttggtGgtctggaggcctttctcgct	4	14	15	8	1	2	2	0	2	2	0	3	4	2	3	1	4	1	3	1	4	0	3			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr7:158534551G>C	ENST00000251527.5	-	17	1977	c.1912C>G	c.(1912-1914)Cac>Gac	p.H638D	ESYT2_ENST00000435514.2_Missense_Mutation_p.H73D	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	666			S -> G (in dbSNP:rs2305473).			integral to membrane|plasma membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						GAGTGTTGGTGGTCTGGAGGC	0.478													26	98					0	0	0.007291	0	0	C	158534551	G	C	158534551	3	2	118	1	0	0	0	0	1	0	0	0	5293	1348	47	4	793	4	ESYT2	7	158534551	Missense_Mutation	SNP	G	TCGA-G9-6333-01A-12D-1961-08	17183184	158534551	604112	18	6012											
ARFGEF1	10565	broad.mit.edu	37	chr8	68178397	68178397	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtatctgtttattgtctcaGggtgtttgatttcactcatc	6	19	8	8	1	4	1	3	1	2	0	6	1	4	1	0	1	0	3	0	1	2	6			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr8:68178397G>C	ENST00000262215.3	-	14	2356	c.1967C>G	c.(1966-1968)cCt>cGt	p.P656R	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.P110R	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	656					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	p.P656H(1)		breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TATTGTCTCAGGGTGTTTGAT	0.373													9	42					0	0	0.006214	0	0	C	68178397	G	C	68178397	3	2	118	1	0	0	0	0	1	0	0	0	849	1000	35	4	3686	4	ARFGEF1	8	68178397	Missense_Mutation	SNP	G	TCGA-G9-6333-01A-12D-1961-08		68178397	78185625	19	6013											
FAM135B	51059	broad.mit.edu	37	chr8	139180230	139180230	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcactctgcaggcagcgggGgcatgctagtgaggtactcc	7	7	16	11	1	1	1	0	1	1	0	2	1	2	1	1	5	4	6	1	5	2	2			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr8:139180230G>A	ENST00000395297.1	-	12	1336	c.1166C>T	c.(1165-1167)cCc>cTc	p.P389L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	389										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AGGCAGCGGGGGCATGCTAGT	0.602										HNSCC(54;0.14)			27	111					0	0	0.005443	0	0	A	139180230	G	A	139180230	3	1	118	1	0	0	0	0	1	0	0	0	5480	1232	43	2	3090	2	FAM135B	8	139180230	Missense_Mutation	SNP	G	TCGA-G9-6333-01A-12D-1961-08	71001833	139180230	7183792	20	6014											
COL22A1	169044	broad.mit.edu	37	chr8	139890294	139890294	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgtgatgtagcggagcgcGtctcccgtgttggtgttgcc	3	11	16	11	5	1	1	0	1	1	0	2	2	1	2	3	2	3	3	3	2	1	3			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr8:139890294G>A	ENST00000303045.6	-	3	803	c.357C>T	c.(355-357)gaC>gaT	p.D119D	COL22A1_ENST00000435777.1_Silent_p.D119D	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	119	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			AGCGGAGCGCGTCTCCCGTGT	0.706										HNSCC(7;0.00092)			4	17					0	0	0.009096	0	0	A	139890294	G	A	139890294	2	1	118	1	0	0	0	0	0	0	0	1	3704	1136	40	1		1	COL22A1	8	139890294	Silent	SNP	G	TCGA-G9-6333-01A-12D-1961-08	710064	139890294	6473728	21	6015											
CNTLN	54875	broad.mit.edu	37	chr9	17273768	17273768	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aattgaagcaaggaaagaagTtgaagtatcacagagtaaat	20	8	10	3	0	1	4	1	2	0	2	1	5	1	5	0	1	1	4	0	1	9	4			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr9:17273768T>C	ENST00000380647.3	+	6	971	c.887T>C	c.(886-888)gTt>gCt	p.V296A	CNTLN_ENST00000380641.4_Missense_Mutation_p.V296A|CNTLN_ENST00000425824.1_Missense_Mutation_p.V296A|CNTLN_ENST00000262360.5_Missense_Mutation_p.V296A			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	296						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		AGGAAAGAAGTTGAAGTATCA	0.308													14	83					0	0	0.00245	0	0	C	17273768	T	C	17273768	3	2	118	1	0	0	0	0	1	0	0	0	3662	1725	60	3	909	3	CNTLN	9	17273768	Missense_Mutation	SNP	T	TCGA-G9-6333-01A-12D-1961-08		17273768	123939663	22	6016											
CTNNA3	29119	broad.mit.edu	37	chr10	67680276	67680276	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccagcaggactctggattcGgatgatcttggttgaggcaa	9	10	13	9	1	2	2	0	2	2	0	3	5	2	5	1	5	1	3	1	5	1	3			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr10:67680276G>A	ENST00000433211.1	-	18	2674	c.2500C>T	c.(2500-2502)Cga>Tga	p.R834*	CTNNA3_ENST00000373744.4_Nonsense_Mutation_p.R834*|CTNNA3_ENST00000373735.1_Nonsense_Mutation_p.R173*	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	834					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	p.R834*(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CTCTGGATTCGGATGATCTTG	0.463													25	108					0	0	0.005443	0	0	A	67680276	G	A	67680276	4	1	118	1	0	0	0	0	0	1	0	0	4038	1124	39	1	191	1	CTNNA3	10	67680276	Nonsense_Mutation	SNP	G	TCGA-G9-6333-01A-12D-1961-08		67680276	67854471	23	6017											
PAPSS2	9060	broad.mit.edu	37	chr10	89505689	89505689	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggcccccaaagcatggaagGtcctgacagattattacagg	12	8	11	10	0	0	2	0	1	0	1	1	3	1	3	3	4	2	1	3	4	4	2			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr10:89505689G>A	ENST00000361175.4	+	12	2176	c.1807G>A	c.(1807-1809)Gtc>Atc	p.V603I	PAPSS2_ENST00000427144.2_Missense_Mutation_p.V607I|PAPSS2_ENST00000456849.1_Missense_Mutation_p.V608I	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	603					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		AGCATGGAAGGTCCTGACAGA	0.463													7	100					0	0	0.006214	0	0	A	89505689	G	A	89505689	3	1	118	1	0	0	0	0	1	0	0	0	11482	1261	44	2	1872	2	PAPSS2	10	89505689	Missense_Mutation	SNP	G	TCGA-G9-6333-01A-12D-1961-08	21825413	89505689	46029058	24	6018											
NT5C2	22978	broad.mit.edu	37	chr10	104866420	104866420	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagaaactaatctctccacAgtaagctcaaaaccaaggga	18	7	6	10	0	2	1	1	0	1	1	4	2	3	2	2	1	3	2	2	1	7	3	rs146517994		TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr10:104866420A>C	ENST00000343289.5	-	4	306	c.219T>G	c.(217-219)acT>acG	p.T73T	NT5C2_ENST00000423468.2_Silent_p.T44T|NT5C2_ENST00000404739.3_Silent_p.T73T|NT5C2_ENST00000369857.4_Intron	NM_001134373.2|NM_012229.4	NP_001127845.1|NP_036361.1	P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II	73					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	ATCTCTCCACAGTAAGCTCAA	0.388													5	164					0	0	0.001168	0	0	C	104866420	A	C	104866420	2	2	118	1	0	0	0	0	0	0	0	1	10735	175	7	5		5	NT5C2	10	104866420	Silent	SNP	A	TCGA-G9-6333-01A-12D-1961-08	15360731	104866420	30668327	25	6019											
OR9G4	283189	broad.mit.edu	37	chr11	56510819	56510819	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggagccagcaacaagcccagTacagagggcggtggacatgg	12	3	16	10	1	0	1	0	0	0	1	0	3	0	3	2	5	5	2	2	5	3	1			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	bf76247b-356d-41c3-b5bf-5e9859046a1a	g.chr11:56510819T>G	ENST00000302957.3	-	1	468	c.469A>C	c.(469-471)Act>Cct	p.T157P		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						ACAAGCCCAGTACAGAGGGCG	0.463													7	147					0	0	0.001984	0	0	G	56510819	T	G	56510819	3	3	118	1	0	0	0	0	1	0	0	0	11298	1638	57	5	517	5	OR9G4	11	56510819	Missense_Mutation	SNP	T	TCGA-G9-6333-01A-12D-1961-08		56510819	78495697	26	6020											
MAGEL2	54551	broad.mit.edu	37	chr15	23890498	23890498	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaaggcattcagagaggcagGctgaaactgggaggtagctg	13	6	16	6	0	1	2	1	1	0	1	1	4	1	3	0	5	2	5	0	5	3	2			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr15:23890498G>A	ENST00000532292.1	-	1	677	c.583C>T	c.(583-585)Cct>Tct	p.P195S		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		AGAGAGGCAGGCTGAAACTGG	0.582													8	89					0	0	0.004482	0	0	A	23890498	G	A	23890498	3	1	118	1	0	0	0	0	1	0	0	0	9239	1203	42	2	1361	2	MAGEL2	15	23890498	Missense_Mutation	SNP	G	TCGA-G9-6333-01A-12D-1961-08		23890498	78640894	27	6021											
MCTP2	55784	broad.mit.edu	37	chr15	95013613	95013613	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctctggcctgtttgattctGgcagcagccaccatcatttt	6	15	8	12	0	3	1	1	1	2	0	4	1	3	1	3	2	2	3	3	2	0	4			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr15:95013613G>A	ENST00000357742.4	+	20	2412	c.2412G>A	c.(2410-2412)ctG>ctA	p.L804L	MCTP2_ENST00000451018.3_Silent_p.L749L	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	804					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GTTTGATTCTGGCAGCAGCCA	0.418													4	171					0	0	0.001168	0	0	A	95013613	G	A	95013613	2	1	118	1	0	0	0	0	0	0	0	1	9451	1335	47	2		2	MCTP2	15	95013613	Silent	SNP	G	TCGA-G9-6333-01A-12D-1961-08	71123115	95013613	7517779	28	6022											
LUC7L	55692	broad.mit.edu	37	chr16	242931	242931	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agccctcaggctcacctcctGctcagacgctcctcccgttc	5	9	7	20	2	3	1	3	0	0	1	7	1	6	1	5	1	2	4	5	1	0	1			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr16:242931G>C	ENST00000337351.4	-	7	894	c.771C>G	c.(769-771)agC>agG	p.S257R	LUC7L_ENST00000397780.1_Missense_Mutation_p.S204R|LUC7L_ENST00000397783.1_Missense_Mutation_p.S257R|LUC7L_ENST00000293872.8_Missense_Mutation_p.S257R	NM_018032.3	NP_060502.1	Q9NQ29	LUC7L_HUMAN	LUC7-like (S. cerevisiae)	257	Arg/Ser-rich.						metal ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	11		all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				CTCACCTCCTGCTCAGACGCT	0.552													16	229					0	0	0.00499	0	0	C	242931	G	C	242931	3	2	118	1	0	0	0	0	1	0	0	0	9127	1310	46	4	364	4	LUC7L	16	242931	Missense_Mutation	SNP	G	TCGA-G9-6333-01A-12D-1961-08		242931	90111822	29	6023											
C16orf89	146556	broad.mit.edu	37	chr16	5094359	5094359	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accgtccgtctcagcggctgCttggtggtggcggtgtggat	3	11	17	10	4	1	0	1	0	1	0	3	1	2	1	2	6	2	2	2	6	0	1			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr16:5094359C>T	ENST00000422873.1	-	8	1277	c.1190G>A	c.(1189-1191)aGc>aAc	p.S397N	C16orf89_ENST00000315997.5_3'UTR|C16orf89_ENST00000350219.4_3'UTR|C16orf89_ENST00000472572.3_Missense_Mutation_p.S359N|C16orf89_ENST00000474471.3_3'UTR|ALG1_ENST00000588623.1_Intron	NM_001098514.2	NP_001091984.2	Q6UX73	CP089_HUMAN	chromosome 16 open reading frame 89	0						extracellular region				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						TCAGCGGCTGCTTGGTGGTGG	0.602													9	111					0	0	0.004482	0	0	T	5094359	C	T	5094359	3	4	118	1	0	0	0	0	1	0	0	0	1849	797	28	2	13	2	C16orf89	16	5094359	Missense_Mutation	SNP	C	TCGA-G9-6333-01A-12D-1961-08	4851428	5094359	85260394	30	6024											
ZNF594	84622	broad.mit.edu	37	chr17	5085657	5085657	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatctgagctacccctaaaaGatttcccacatttgttgcat	11	13	6	11	0	1	2	0	1	1	1	2	3	2	2	3	0	3	3	3	0	3	5			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr17:5085657G>A	ENST00000399604.4	-	1	2035	c.1895C>T	c.(1894-1896)tCt>tTt	p.S632F	ZNF594_ENST00000575779.1_Missense_Mutation_p.S632F			Q96JF6	ZN594_HUMAN	zinc finger protein 594	632					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						ACCCCTAAAAGATTTCCCACA	0.398													11	174					0	0	0.010729	0	0	A	5085657	G	A	5085657	3	1	118	1	0	0	0	0	1	0	0	0	18081	942	33	2	532	2	ZNF594	17	5085657	Missense_Mutation	SNP	G	TCGA-G9-6333-01A-12D-1961-08		5085657	76109553	31	6025											
MYH10	4628	broad.mit.edu	37	chr17	8409745	8409745	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaggtcggtcgtctcccCgtcgagttttcttttggcct	2	15	11	13	4	2	0	0	0	2	0	6	1	2	0	3	3	1	2	3	3	0	4			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr17:8409745C>T	ENST00000360416.3	-	27	3415	c.3277G>A	c.(3277-3279)Ggg>Agg	p.G1093R	MYH10_ENST00000379980.4_Missense_Mutation_p.G1078R|MYH10_ENST00000269243.4_Missense_Mutation_p.G1062R|MYH10_ENST00000396239.1_Missense_Mutation_p.G1083R	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1062					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						GTCGTCTCCCCGTCGAGTTTT	0.527													24	69					0	0	0.004656	0	0	T	8409745	C	T	8409745	3	4	118	1	0	0	0	0	1	0	0	0	10078	652	23	1	2814	1	MYH10	17	8409745	Missense_Mutation	SNP	C	TCGA-G9-6333-01A-12D-1961-08	3324088	8409745	72785465	32	6026											
LASP1	3927	broad.mit.edu	37	chr17	37074903	37074903	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcgccgccgacgaggacGaggtctccttccaggacggg	8	4	15	14	6	1	0	0	0	1	0	3	5	2	2	4	4	1	0	4	4	0	1			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr17:37074903G>T	ENST00000318008.6	+	7	989	c.658G>T	c.(658-660)Gag>Tag	p.E220*	LASP1_ENST00000435347.3_Nonsense_Mutation_p.E220*|LASP1_ENST00000433206.2_Nonsense_Mutation_p.E164*	NM_006148.2	NP_006139.1	Q14847	LASP1_HUMAN	LIM and SH3 protein 1	220	SH3.			E -> A (in Ref. 2; AAH12460).		cortical actin cytoskeleton	ion transmembrane transporter activity|SH3/SH2 adaptor activity|zinc ion binding			breast(1)|large_intestine(2)|lung(4)|urinary_tract(2)	9						CGACGAGGACGAGGTCTCCTT	0.662			T	MLL	AML								5	135					0.00116845	0.00274331	0.001168	1	0	T	37074903	G	T	37074903	4	4	118	1	0	0	0	0	0	1	0	0	8676	1059	37	4	684	4	LASP1	17	37074903	Nonsense_Mutation	SNP	G	TCGA-G9-6333-01A-12D-1961-08	28665158	37074903	44120307	33	6027											
SPOP	8405	broad.mit.edu	37	chr17	47696424	47696424	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctacggatgaatttcttGaatccccagtctttgccttg	7	16	7	11	1	3	2	0	2	3	0	5	3	4	3	3	1	2	0	3	1	3	5			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr17:47696424G>T	ENST00000393331.3	-	7	869	c.399C>A	c.(397-399)ttC>ttA	p.F133L	SPOP_ENST00000504102.1_Missense_Mutation_p.F133L|SPOP_ENST00000393328.2_Missense_Mutation_p.F133L|SPOP_ENST00000347630.2_Missense_Mutation_p.F133L|SPOP_ENST00000503676.1_Missense_Mutation_p.F133L	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	133	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.F133L(7)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TGAATTTCTTGAATCCCCAGT	0.448										Prostate(2;0.17)			27	117					5.61819e-17	1.37901e-16	0.005443	1	0	T	47696424	G	T	47696424	3	4	118	1	0	0	0	0	1	0	0	0	15140	1281	45	4	749	4	SPOP	17	47696424	Missense_Mutation	SNP	G	TCGA-G9-6333-01A-12D-1961-08	10621521	47696424	33498786	34	6028											
USP36	57602	broad.mit.edu	37	chr17	76803039	76803039	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgagacccccacacacccAccttcttggcagaaagggcc	10	4	10	17	1	1	2	0	0	1	2	1	3	1	2	5	3	0	1	5	3	1	2			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr17:76803039A>C	ENST00000312010.6	-	14	2410		c.e14+1		USP36_ENST00000449938.2_Splice_Site|USP36_ENST00000542802.2_Splice_Site	NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36						ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			CCACACACCCACCTTCTTGGC	0.567													8	90					0	0	0.006214	0	0	C	76803039	A	C	76803039	5	2	118	1	0	0	0	0	0	0	1	0	17127	173	6	5	1312	5	USP36	17	76803039	Splice_Site	SNP	A	TCGA-G9-6333-01A-12D-1961-08	29106615	76803039	4392171	35	6029											
SS18	6760	broad.mit.edu	37	chr18	23612376	23612376	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacttacctggtcatatccaTaaggcctctgctggggtggc	7	12	11	11	0	2	0	1	0	1	0	3	0	3	0	3	5	3	1	3	5	4	4			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr18:23612376T>G	ENST00000415083.2	-	10	1272	c.1217A>C	c.(1216-1218)tAt>tCt	p.Y406S	SS18_ENST00000545952.1_Missense_Mutation_p.Y323S|SS18_ENST00000542743.1_Missense_Mutation_p.Y323S|SS18_ENST00000542420.2_Missense_Mutation_p.Y383S|SS18_ENST00000539849.1_Missense_Mutation_p.Y324S|SS18_ENST00000269137.7_Missense_Mutation_p.Y375S	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	406	Gln-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding		SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					GTCATATCCATAAGGCCTCTG	0.453			T	"SSX1,  SSX2"	synovial sarcoma								6	196					0	0	0.001984	0	0	G	23612376	T	G	23612376	3	3	118	1	0	0	0	0	1	0	0	0	15231	1406	49	5	47	5	SS18	18	23612376	Missense_Mutation	SNP	T	TCGA-G9-6333-01A-12D-1961-08		23612376	54464872	36	6030											
TMPRSS9	360200	broad.mit.edu	37	chr19	2421893	2421893	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgcgaggaggcccctggCgtgttttatctggcagggat	5	10	16	10	2	1	0	0	0	1	0	1	3	1	2	3	5	1	2	3	5	1	2			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr19:2421893C>T	ENST00000332578.3	+	13	2094	c.2094C>T	c.(2092-2094)ggC>ggT	p.G698G		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	698	Peptidase S1 2.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGCCCCTGGCGTGTTTTATC	0.617													11	137					0	0	0.013537	0	0	T	2421893	C	T	2421893	2	4	118	1	0	0	0	0	0	0	0	1	16313	755	27	1		1	TMPRSS9	19	2421893	Silent	SNP	C	TCGA-G9-6333-01A-12D-1961-08		2421893	56707090	37	6031											
COL6A1	1291	broad.mit.edu	37	chr21	47423618	47423618	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgggctatgtgacccgcttCtaccgcgaggcctcgtccgg	4	9	13	15	5	1	1	0	1	1	0	3	2	2	1	4	3	1	2	4	3	2	3			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr21:47423618C>T	ENST00000361866.3	+	35	2892	c.2778C>T	c.(2776-2778)ttC>ttT	p.F926F	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	926	C-terminal globular domain.|VWFA 3.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	TGACCCGCTTCTACCGCGAGG	0.642													7	27					0	0	0.001984	0	0	T	47423618	C	T	47423618	2	4	118	1	0	0	0	0	0	0	0	1	3722	912	32	2		2	COL6A1	21	47423618	Silent	SNP	C	TCGA-G9-6333-01A-12D-1961-08		47423618	706277	38	6032											
ACR	49	broad.mit.edu	37	chr22	51178322	51178322	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgggcgcttcattgggccggGctgcctgccccactttaagg	4	10	14	13	2	1	0	1	0	0	0	1	0	1	0	4	4	2	2	4	4	1	4			TCGA-G9-6333-01A-12D-1961-08	TCGA-G9-6333-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ec7131a-d645-47a5-baa3-10b19f243846	62d82fd8-e94f-4dae-a171-a8eab417bc41	g.chr22:51178322G>A	ENST00000216139.5	+	3	522	c.482G>A	c.(481-483)gGc>gAc	p.G161D	ACR_ENST00000529621.1_Missense_Mutation_p.G161D	NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN	acrosin	161	Peptidase S1.				acrosome matrix dispersal|activation of adenylate cyclase activity	acrosomal matrix|protein complex	amidase activity|copper ion binding|DNA binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		ATTGGGCCGGGCTGCCTGCCC	0.567													18	104					0	0	0.012319	0	0	A	51178322	G	A	51178322	3	1	118	1	0	0	0	0	1	0	0	0	169	1203	42	2	492	2	ACR	22	51178322	Missense_Mutation	SNP	G	TCGA-G9-6333-01A-12D-1961-08		51178322	126244	39	6033											
HRNR	388697	broad.mit.edu	37	chr1	152192307	152192307	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgacccgagctagatccgtGttgaccgtagccagaggact	10	8	12	11	3	0	4	0	2	0	2	1	6	1	5	4	1	2	3	4	1	2	3			TCGA-G9-6336-01A-11D-1786-08	TCGA-G9-6336-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab318624-db9d-41d8-b7b8-34712434f28f	aefe7099-96e0-481c-bbfe-1566024df395	g.chr1:152192307G>T	ENST00000368801.2	-	3	1873	c.1798C>A	c.(1798-1800)Cac>Aac	p.H600N	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	600					keratinization		calcium ion binding|protein binding	p.H600N(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTAGATCCGTGTTGACCGTAG	0.557													47	427					9.52127e-25	1.23776e-24	0.870114	1	0	T	152192307	G	T	152192307	3	4	119	1	0	0	0	0	1	0	0	0	7400	1377	48	4	6758	4	HRNR	1	152192307	Missense_Mutation	SNP	G	TCGA-G9-6336-01A-11D-1786-08		152192307	97058314	1	6034											
KPRP	448834	broad.mit.edu	37	chr1	152733157	152733157	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccgcagccctcctggggcGcctcctgccctgagctgagg	3	6	14	18	2	0	2	0	2	0	0	2	2	2	2	6	3	3	2	6	3	0	0			TCGA-G9-6336-01A-11D-1786-08	TCGA-G9-6336-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab318624-db9d-41d8-b7b8-34712434f28f	aefe7099-96e0-481c-bbfe-1566024df395	g.chr1:152733157G>A	ENST00000368773.1	+	2	1151	c.1093G>A	c.(1093-1095)Gcc>Acc	p.A365T	KPRP_ENST00000606109.1_Missense_Mutation_p.A365T	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	365	Pro-rich.					cytoplasm		p.A365T(1)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCCTGGGGCGCCTCCTGCCC	0.662													10	79					0	0	0.335167	0	0	A	152733157	G	A	152733157	3	1	119	1	0	0	0	0	1	0	0	0	8479	1087	38	1	1095	1	KPRP	1	152733157	Missense_Mutation	SNP	G	TCGA-G9-6336-01A-11D-1786-08	540850	152733157	96517464	2	6035											
PAPPA2	60676	broad.mit.edu	37	chr1	176668379	176668379	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccaacacccggtccaagccGacaccctcaccctgtgggtc	8	6	8	19	2	1	0	1	0	0	0	4	1	3	0	6	2	2	0	6	2	2	0			TCGA-G9-6336-01A-11D-1786-08	TCGA-G9-6336-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab318624-db9d-41d8-b7b8-34712434f28f	aefe7099-96e0-481c-bbfe-1566024df395	g.chr1:176668379G>A	ENST00000367662.3	+	8	4054	c.2890G>A	c.(2890-2892)Gac>Aac	p.D964N		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	964					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.D964N(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGTCCAAGCCGACACCCTCAC	0.577													23	158					0	0	0.608945	0	0	A	176668379	G	A	176668379	3	1	119	1	0	0	0	0	1	0	0	0	11480	1058	37	1	2969	1	PAPPA2	1	176668379	Missense_Mutation	SNP	G	TCGA-G9-6336-01A-11D-1786-08	23935222	176668379	72582242	3	6036											
GPM6A	2823	broad.mit.edu	37	chr4	176622807	176622807	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttgacagttccagaaagcGcttcatgaccgcagccacag	11	8	10	12	2	1	3	1	2	0	1	2	3	2	3	3	0	2	4	3	0	1	3			TCGA-G9-6336-01A-11D-1786-08	TCGA-G9-6336-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab318624-db9d-41d8-b7b8-34712434f28f	aefe7099-96e0-481c-bbfe-1566024df395	g.chr4:176622807G>A	ENST00000280187.7	-	3	194	c.149C>T	c.(148-150)gCg>gTg	p.A50V	GPM6A_ENST00000515090.1_Missense_Mutation_p.A43V|GPM6A_ENST00000506894.1_Missense_Mutation_p.A39V|GPM6A_ENST00000393658.2_Missense_Mutation_p.A50V	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	50						cell surface|integral to membrane		p.A50V(3)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		TCCAGAAAGCGCTTCATGACC	0.488													5	155					0	0	0.184627	0	0	A	176622807	G	A	176622807	3	1	119	1	0	0	0	0	1	0	0	0	6655	1087	38	1	711	1	GPM6A	4	176622807	Missense_Mutation	SNP	G	TCGA-G9-6336-01A-11D-1786-08		176622807	14531469	4	6037											
TCERG1	10915	broad.mit.edu	37	chr5	145890177	145890177	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccccacctcccacagcatCggagcccacgagacgatcaa	12	3	7	19	3	1	1	1	0	0	1	3	4	2	2	5	1	2	1	5	1	1	0			TCGA-G9-6336-01A-11D-1786-08	TCGA-G9-6336-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab318624-db9d-41d8-b7b8-34712434f28f	aefe7099-96e0-481c-bbfe-1566024df395	g.chr5:145890177C>A	ENST00000296702.5	+	22	3307	c.3269C>A	c.(3268-3270)tCg>tAg	p.S1090*	TCERG1_ENST00000394421.2_Nonsense_Mutation_p.S1069*	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	1090					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	p.S1090*(1)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCACAGCATCGGAGCCCACG	0.463													3	97					0.115264	0.121494	0.115264	1	0	A	145890177	C	A	145890177	4	1	119	1	0	0	0	0	0	1	0	0	15745	893	31	4	3355	4	TCERG1	5	145890177	Nonsense_Mutation	SNP	C	TCGA-G9-6336-01A-11D-1786-08		145890177	35025083	5	6038											
CD109	135228	broad.mit.edu	37	chr6	74491004	74491004	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtggactctgggtattgaCagatgcaaacctcacgaagg	12	9	12	8	1	2	2	1	1	1	1	2	4	2	3	1	3	2	2	1	3	3	2			TCGA-G9-6336-01A-11D-1786-08	TCGA-G9-6336-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab318624-db9d-41d8-b7b8-34712434f28f	aefe7099-96e0-481c-bbfe-1566024df395	g.chr6:74491004C>A	ENST00000437994.2	+	17	2356	c.1925C>A	c.(1924-1926)aCa>aAa	p.T642K	CD109_ENST00000422508.2_Missense_Mutation_p.T565K|CD109_ENST00000287097.5_Missense_Mutation_p.T642K	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	642	Bait region (approximate) (By similarity).					anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	p.T642K(2)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGGGTATTGACAGATGCAAAC	0.318													3	72					0.004672	0.00520594	0.115264	1	0	A	74491004	C	A	74491004	3	1	119	1	0	0	0	0	1	0	0	0	2985	478	17	4	1991	4	CD109	6	74491004	Missense_Mutation	SNP	C	TCGA-G9-6336-01A-11D-1786-08		74491004	96624063	6	6039											
MKLN1	4289	broad.mit.edu	37	chr7	131172448	131172448	+	Silent	SNP	T	T	G																															ttctttcctgacagcatgacTcctcctaaaggcaacctggt																										TCGA-G9-6336-01A-11D-1786-08	TCGA-G9-6336-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab318624-db9d-41d8-b7b8-34712434f28f	aefe7099-96e0-481c-bbfe-1566024df395	g.chr7:131172448T>G	ENST00000352689.6	+	18	2209	c.2169T>G	c.(2167-2169)acT>acG	p.T723T	MKLN1_ENST00000421797.2_Silent_p.T631T|MKLN1_ENST00000498778.1_3'UTR	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	723					signal transduction	cytoplasm	protein binding	p.T723T(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					ACAGCATGACTCCTCCTAAAG	0.433													12	56					0	0	0.38729	0	0	G	131172448	T	G	131172448	2	3	119	1	0	0	0	0	0	0	0	1	9651	1538	54	5		5	MKLN1	7	131172448	Silent	SNP	T	TCGA-G9-6336-01A-11D-1786-08		131172448	27966215	7	6040	33	2									
MKLN1	4289	broad.mit.edu	37	chr7	131172449	131172449	+	Missense_Mutation	SNP	C	C	A																															tctttcctgacagcatgactCctcctaaaggcaacctggta																										TCGA-G9-6336-01A-11D-1786-08	TCGA-G9-6336-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab318624-db9d-41d8-b7b8-34712434f28f	aefe7099-96e0-481c-bbfe-1566024df395	g.chr7:131172449C>A	ENST00000352689.6	+	18	2210	c.2170C>A	c.(2170-2172)Cct>Act	p.P724T	MKLN1_ENST00000421797.2_Missense_Mutation_p.P632T|MKLN1_ENST00000498778.1_3'UTR	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	724					signal transduction	cytoplasm	protein binding	p.P724T(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					CAGCATGACTCCTCCTAAAGG	0.433													12	56					0.0809354	0.08768	0.38729	1	0	A	131172449	C	A	131172449	3	1	119	1	0	0	0	0	1	0	0	0	9651	855	30	4	2273	4	MKLN1	7	131172449	Missense_Mutation	SNP	C	TCGA-G9-6336-01A-11D-1786-08	1	131172449	27966214	8	6041	33	2									
PXDNL	137902	broad.mit.edu	37	chr8	52320734	52320734	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgaagtcaacatatggtggGatcccgtggtctctacccct	8	11	10	12	1	2	1	1	1	1	0	4	2	3	2	3	3	2	0	3	3	4	2			TCGA-G9-6336-01A-11D-1786-08	TCGA-G9-6336-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab318624-db9d-41d8-b7b8-34712434f28f	aefe7099-96e0-481c-bbfe-1566024df395	g.chr8:52320734G>T	ENST00000356297.4	-	17	3550	c.3450C>A	c.(3448-3450)atC>atA	p.I1150I	PXDNL_ENST00000543296.1_Silent_p.I1150I	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1150					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.I349I(1)|p.I1150I(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CATATGGTGGGATCCCGTGGT	0.448													20	163					1.96292e-10	2.46948e-10	0.592651	1	0	T	52320734	G	T	52320734	2	4	119	1	0	0	0	0	0	0	0	1	12900	1164	41	4		4	PXDNL	8	52320734	Silent	SNP	G	TCGA-G9-6336-01A-11D-1786-08		52320734	94043288	9	6042											
RASEF	158158	broad.mit.edu	37	chr9	85597623	85597623	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacaattcttcatctgtggtGactttttggaattggtcccg	8	16	9	8	1	3	1	1	1	2	0	4	2	4	2	1	3	1	0	1	3	3	5			TCGA-G9-6336-01A-11D-1786-08	TCGA-G9-6336-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab318624-db9d-41d8-b7b8-34712434f28f	aefe7099-96e0-481c-bbfe-1566024df395	g.chr9:85597623G>A	ENST00000376447.3	-	17	2452	c.2192C>T	c.(2191-2193)tCa>tTa	p.S731L		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	731					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding	p.S731L(1)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						CATCTGTGGTGACTTTTTGGA	0.413													22	178					0	0	0.592651	0	0	A	85597623	G	A	85597623	3	1	119	1	0	0	0	0	1	0	0	0	13120	1294	45	2	34	2	RASEF	9	85597623	Missense_Mutation	SNP	G	TCGA-G9-6336-01A-11D-1786-08		85597623	55615808	10	6043											
PAPPA	5069	broad.mit.edu	37	chr9	118950296	118950296	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggatgagaactgtgaccccGagtgcaaccacacgctgacg	11	5	13	12	3	0	3	0	3	0	1	0	6	0	4	3	1	3	2	3	1	2	0			TCGA-G9-6336-01A-11D-1786-08	TCGA-G9-6336-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab318624-db9d-41d8-b7b8-34712434f28f	aefe7099-96e0-481c-bbfe-1566024df395	g.chr9:118950296G>A	ENST00000328252.3	+	2	1648	c.1279G>A	c.(1279-1281)Gag>Aag	p.E427K		NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	427	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	p.E427K(1)		NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CTGTGACCCCGAGTGCAACCA	0.632													4	61					0	0	0.150653	0	0	A	118950296	G	A	118950296	3	1	119	1	0	0	0	0	1	0	0	0	11479	1059	37	1	1285	1	PAPPA	9	118950296	Missense_Mutation	SNP	G	TCGA-G9-6336-01A-11D-1786-08	33352673	118950296	22263135	11	6044											
NR6A1	2649	broad.mit.edu	37	chr9	127316735	127316735	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgtttgttgcaaatgctcCgcttgaaaaaccctttgcag	9	12	8	12	2	0	1	0	1	0	0	1	1	1	1	3	0	4	6	3	0	3	4			TCGA-G9-6336-01A-11D-1786-08	TCGA-G9-6336-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab318624-db9d-41d8-b7b8-34712434f28f	aefe7099-96e0-481c-bbfe-1566024df395	g.chr9:127316735C>T	ENST00000487099.2	-	3	414	c.257G>A	c.(256-258)cGg>cAg	p.R86Q	NR6A1_ENST00000344523.4_Missense_Mutation_p.R86Q|NR6A1_ENST00000416460.2_Missense_Mutation_p.R82Q|NR6A1_ENST00000373584.3_Missense_Mutation_p.R82Q	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	86					cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.R86Q(1)		NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						GCAAATGCTCCGCTTGAAAAA	0.527													12	111					0	0	0.38729	0	0	T	127316735	C	T	127316735	3	4	119	1	0	0	0	0	1	0	0	0	10685	652	23	1	1217	1	NR6A1	9	127316735	Missense_Mutation	SNP	C	TCGA-G9-6336-01A-11D-1786-08	8366439	127316735	13896696	12	6045											
KIF11	3832	broad.mit.edu	37	chr10	94390060	94390060	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaattacaacttgttaaagAagaatatatcacatcagctt	18	13	4	6	0	2	2	2	0	0	2	2	2	2	2	0	0	3	2	0	0	10	7			TCGA-G9-6336-01A-11D-1786-08	TCGA-G9-6336-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab318624-db9d-41d8-b7b8-34712434f28f	aefe7099-96e0-481c-bbfe-1566024df395	g.chr10:94390060A>G	ENST00000260731.3	+	12	1523	c.1433A>G	c.(1432-1434)gAa>gGa	p.E478G		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	478					blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding	p.E478G(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTTGTTAAAGAAGAATATATC	0.343													7	46					0	0	0.248553	0	0	G	94390060	A	G	94390060	3	3	119	1	0	0	0	0	1	0	0	0	8314	246	9	3	1479	3	KIF11	10	94390060	Missense_Mutation	SNP	A	TCGA-G9-6336-01A-11D-1786-08		94390060	41144687	13	6046											
COL17A1	1308	broad.mit.edu	37	chr10	105798253	105798253	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggcccagggggccctggcGggcctgacacgtacatggta	6	5	18	12	2	0	1	0	1	0	0	0	1	0	1	3	7	1	2	3	7	2	2			TCGA-G9-6336-01A-11D-1786-08	TCGA-G9-6336-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab318624-db9d-41d8-b7b8-34712434f28f	aefe7099-96e0-481c-bbfe-1566024df395	g.chr10:105798253G>A	ENST00000353479.5	-	45	3271	c.2981C>T	c.(2980-2982)cCg>cTg	p.P994L	COL17A1_ENST00000369733.3_Missense_Mutation_p.P949L	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	994	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	p.P994L(2)		NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GGGCCCTGGCGGGCCTGACAC	0.597													23	165					0	0	0.608945	0	0	A	105798253	G	A	105798253	3	1	119	1	0	0	0	0	1	0	0	0	3697	1116	39	1	1560	1	COL17A1	10	105798253	Missense_Mutation	SNP	G	TCGA-G9-6336-01A-11D-1786-08	11408193	105798253	29736494	14	6047											
ARHGAP20	57569	broad.mit.edu	37	chr11	110450382	110450382	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggggacagtccttcagctgcCcttaagggcaagtctttttg	7	12	12	10	0	2	0	1	0	1	0	3	1	3	1	2	3	2	2	2	3	2	4			TCGA-G9-6336-01A-11D-1786-08	TCGA-G9-6336-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab318624-db9d-41d8-b7b8-34712434f28f	aefe7099-96e0-481c-bbfe-1566024df395	g.chr11:110450382C>T	ENST00000260283.4	-	16	3572	c.3288G>A	c.(3286-3288)agG>agA	p.R1096R	ARHGAP20_ENST00000528829.1_Silent_p.R1060R|ARHGAP20_ENST00000357139.3_Silent_p.R1070R|ARHGAP20_ENST00000527598.1_Silent_p.R1060R|ARHGAP20_ENST00000533353.1_Silent_p.R1070R|ARHGAP20_ENST00000529591.1_Silent_p.R639R|ARHGAP20_ENST00000524756.1_Silent_p.R1073R	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	1096					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.R1096R(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		CTTCAGCTGCCCTTAAGGGCA	0.522													4	139					0	0	0.150653	0	0	T	110450382	C	T	110450382	2	4	119	1	0	0	0	0	0	0	0	1	867	622	22	2		2	ARHGAP20	11	110450382	Silent	SNP	C	TCGA-G9-6336-01A-11D-1786-08		110450382	24556134	15	6048											
PANX3	116337	broad.mit.edu	37	chr11	124481615	124481615	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgatgtccctggcattcGcccaggagttctcctctggt	4	13	11	13	1	2	1	0	1	2	0	5	2	3	2	3	3	1	3	3	3	0	2	rs142639637	byFrequency	TCGA-G9-6336-01A-11D-1786-08	TCGA-G9-6336-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab318624-db9d-41d8-b7b8-34712434f28f	aefe7099-96e0-481c-bbfe-1566024df395	g.chr11:124481615G>A	ENST00000284288.2	+	1	230	c.163G>A	c.(163-165)Gcc>Acc	p.A55T		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	55					protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity	p.A55T(2)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		CCTGGCATTCGCCCAGGAGTT	0.587													14	37					0	0	0.457914	0	0	A	124481615	G	A	124481615	3	1	119	1	0	0	0	0	1	0	0	0	11469	1087	38	1	165	1	PANX3	11	124481615	Missense_Mutation	SNP	G	TCGA-G9-6336-01A-11D-1786-08	14031233	124481615	10524901	16	6049											
ARID2	196528	broad.mit.edu	37	chr12	46243943	46243943	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtgttcatactgtggcacaAactgtttcaagaattccaca	12	12	8	9	0	2	1	2	0	0	1	3	1	3	1	1	2	2	3	1	2	4	4			TCGA-G9-6336-01A-11D-1786-08	TCGA-G9-6336-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab318624-db9d-41d8-b7b8-34712434f28f	aefe7099-96e0-481c-bbfe-1566024df395	g.chr12:46243943A>T	ENST00000334344.6	+	15	2209	c.2037A>T	c.(2035-2037)caA>caT	p.Q679H	ARID2_ENST00000444670.1_Missense_Mutation_p.Q289H|ARID2_ENST00000422737.1_Missense_Mutation_p.Q530H|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	679					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.Q679H(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CTGTGGCACAAACTGTTTCAA	0.413			"N, S, F"		hepatocellular carcinoma								17	125					0	0	0.500413	0	0	T	46243943	A	T	46243943	3	4	119	1	0	0	0	0	1	0	0	0	912	11	1	5	2095	5	ARID2	12	46243943	Missense_Mutation	SNP	A	TCGA-G9-6336-01A-11D-1786-08		46243943	87607952	17	6050											
EP400	57634	broad.mit.edu	37	chr12	132547141	132547141	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcaacaGcagcagcagcaacagacgac	16	0	11	14	1	0	1	0	0	0	1	0	2	0	1	0	0	11	9	0	0	2	0			TCGA-G9-6336-01A-11D-1786-08	TCGA-G9-6336-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab318624-db9d-41d8-b7b8-34712434f28f	aefe7099-96e0-481c-bbfe-1566024df395	g.chr12:132547141G>A	ENST00000333577.4	+	48	8446	c.8337G>A	c.(8335-8337)caG>caA	p.Q2779Q	EP400_ENST00000389561.2_Silent_p.Q2743Q|EP400_ENST00000389562.2_Silent_p.Q2742Q|EP400_ENST00000330386.6_Silent_p.Q2662Q|EP400_ENST00000332482.4_Silent_p.Q2706Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2779	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2742Q(2)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacagcagcagcagc	0.597													3	69					0	0	0.184627	0	0	A	132547141	G	A	132547141	2	1	119	1	0	0	0	0	0	0	0	1	5177	962	34	2		2	EP400	12	132547141	Silent	SNP	G	TCGA-G9-6336-01A-11D-1786-08	86303198	132547141	1304754	18	6051											
RCBTB2	1102	broad.mit.edu	37	chr13	49076874	49076874	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttacccacggagaggaggCgccacgtgacggcgggcgtg	7	4	18	12	6	0	2	0	1	0	1	0	4	0	3	2	5	1	1	2	5	1	1			TCGA-G9-6336-01A-11D-1786-08	TCGA-G9-6336-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab318624-db9d-41d8-b7b8-34712434f28f	aefe7099-96e0-481c-bbfe-1566024df395	g.chr13:49076874C>A	ENST00000344532.3	-	11	1526	c.1103G>T	c.(1102-1104)cGc>cTc	p.R368L	RCBTB2_ENST00000544492.1_Missense_Mutation_p.R94L|RCBTB2_ENST00000430805.2_Missense_Mutation_p.R373L	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	368							Ran guanyl-nucleotide exchange factor activity	p.R368L(1)		breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		GGAGAGGAGGCGCCACGTGAC	0.577													15	106					5.3912e-06	6.37142e-06	0.539581	1	0	A	49076874	C	A	49076874	3	1	119	1	0	0	0	0	1	0	0	0	13224	768	27	4	572	4	RCBTB2	13	49076874	Missense_Mutation	SNP	C	TCGA-G9-6336-01A-11D-1786-08		49076874	66093004	19	6052											
RASA3	22821	broad.mit.edu	37	chr13	114780695	114780695	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcactcaccctggaagcgCttggccgccgcctcccggag	5	5	14	17	4	1	0	1	0	0	0	2	2	2	2	5	4	1	2	5	4	1	1			TCGA-G9-6336-01A-11D-1786-08	TCGA-G9-6336-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab318624-db9d-41d8-b7b8-34712434f28f	aefe7099-96e0-481c-bbfe-1566024df395	g.chr13:114780695C>T	ENST00000334062.7	-	14	1516	c.1395G>A	c.(1393-1395)aaG>aaA	p.K465K	RASA3_ENST00000389544.4_Silent_p.K433K	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	465	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity	p.K465K(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			CCTGGAAGCGCTTGGCCGCCG	0.627													5	145					0	0	0.184627	0	0	T	114780695	C	T	114780695	2	4	119	1	0	0	0	0	0	0	0	1	13114	796	28	2		2	RASA3	13	114780695	Silent	SNP	C	TCGA-G9-6336-01A-11D-1786-08	65703821	114780695	389183	20	6053											
RASGRF1	5923	broad.mit.edu	37	chr15	79291122	79291122	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacgattggtggctgctctgCggatcacaaactccttgtct	7	12	10	12	2	3	0	1	0	2	0	4	2	4	1	1	3	3	2	1	3	1	2			TCGA-G9-6336-01A-11D-1786-08	TCGA-G9-6336-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab318624-db9d-41d8-b7b8-34712434f28f	aefe7099-96e0-481c-bbfe-1566024df395	g.chr15:79291122C>A	ENST00000419573.3	-	19	3114	c.2840G>T	c.(2839-2841)cGc>cTc	p.R947L	RASGRF1_ENST00000558480.2_Missense_Mutation_p.R931L|RASGRF1_ENST00000394745.3_Missense_Mutation_p.R163L|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	949					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	p.R947L(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GGCTGCTCTGCGGATCACAAA	0.612													13	69					4.3838e-07	5.34276e-07	0.435327	1	0	A	79291122	C	A	79291122	3	1	119	1	0	0	0	0	1	0	0	0	13124	768	27	4	1021	4	RASGRF1	15	79291122	Missense_Mutation	SNP	C	TCGA-G9-6336-01A-11D-1786-08		79291122	23240270	21	6054											
PSMD7	5713	broad.mit.edu	37	chr16	74336163	74336163	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctagggctgcctacagaagcGtacatttcagtggaagaagt	12	9	12	8	1	1	2	1	0	0	2	1	3	1	3	1	2	4	2	1	2	6	4			TCGA-G9-6336-01A-11D-1786-08	TCGA-G9-6336-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab318624-db9d-41d8-b7b8-34712434f28f	aefe7099-96e0-481c-bbfe-1566024df395	g.chr16:74336163G>A	ENST00000219313.4	+	5	551	c.411G>A	c.(409-411)gcG>gcA	p.A137A	PSMD7_ENST00000540379.1_Silent_p.A60A|PSMD7_ENST00000568615.2_Silent_p.A137A|PSMD7_ENST00000567958.1_Silent_p.A137A	NM_002811.4	NP_002802.2	P51665	PSD7_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 7	137					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding	p.A137A(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	15						CTACAGAAGCGTACATTTCAG	0.433													11	116					0	0	0.411799	0	0	A	74336163	G	A	74336163	2	1	119	1	0	0	0	0	0	0	0	1	12752	1132	40	1		1	PSMD7	16	74336163	Silent	SNP	G	TCGA-G9-6336-01A-11D-1786-08		74336163	16018590	22	6055											
COL1A1	1277	broad.mit.edu	37	chr17	48270010	48270010	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaggcctcacctggaatccGggggagccagcagggccttg	7	6	16	12	1	1	1	1	1	0	0	2	3	2	3	5	5	2	1	5	5	1	1	rs140024722		TCGA-G9-6336-01A-11D-1786-08	TCGA-G9-6336-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab318624-db9d-41d8-b7b8-34712434f28f	aefe7099-96e0-481c-bbfe-1566024df395	g.chr17:48270010G>A	ENST00000225964.5	-	28	2038	c.1920C>T	c.(1918-1920)ccC>ccT	p.P640P		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	640	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	p.P640P(1)	COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	CCTGGAATCCGGGGGAGCCAG	0.602			T	"PDGFB, USP6"	"dermatofibrosarcoma protuberans, aneurysmal bone cyst "		Osteogenesis imperfecta						19	166					0	0	0.575678	0	0	A	48270010	G	A	48270010	2	1	119	1	0	0	0	0	0	0	0	1	3700	1103	39	1		1	COL1A1	17	48270010	Silent	SNP	G	TCGA-G9-6336-01A-11D-1786-08		48270010	32925200	23	6056											
ZNF585B	92285	broad.mit.edu	37	chr19	37677246	37677246	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgaattctctgatgcactGtgagtgctgacttctgagtg	8	15	11	7	0	2	5	0	5	2	0	3	5	2	5	0	0	2	2	0	0	2	3			TCGA-G9-6336-01A-11D-1786-08	TCGA-G9-6336-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab318624-db9d-41d8-b7b8-34712434f28f	aefe7099-96e0-481c-bbfe-1566024df395	g.chr19:37677246G>C	ENST00000532828.2	-	5	1444	c.1193C>G	c.(1192-1194)aCa>aGa	p.T398R	ZNF585B_ENST00000531805.1_Missense_Mutation_p.T343R|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000312908.5_5'UTR|ZNF585B_ENST00000527838.1_3'UTR	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	398					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.T398R(1)		NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTGATGCACTGTGAGTGCTGA	0.413													3	91					0	0	0.115264	0	0	C	37677246	G	C	37677246	3	2	119	1	0	0	0	0	1	0	0	0	18075	1377	48	4	1120	4	ZNF585B	19	37677246	Missense_Mutation	SNP	G	TCGA-G9-6336-01A-11D-1786-08		37677246	21451737	24	6057											
DSN1	79980	broad.mit.edu	37	chr20	35399437	35399437	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcctggtggctgagatcaCaatttcccccttttttaggg	6	16	9	10	0	1	1	1	1	0	1	3	2	3	1	3	3	0	1	3	3	2	5			TCGA-G9-6336-01A-11D-1786-08	TCGA-G9-6336-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab318624-db9d-41d8-b7b8-34712434f28f	aefe7099-96e0-481c-bbfe-1566024df395	g.chr20:35399437C>T	ENST00000426836.1	-	3	566	c.194G>A	c.(193-195)tGt>tAt	p.C65Y	DSN1_ENST00000448110.1_Missense_Mutation_p.C49Y|DSN1_ENST00000373734.4_Intron|DSN1_ENST00000373740.3_Intron|DSN1_ENST00000473615.1_Intron|DSN1_ENST00000373745.3_Missense_Mutation_p.C65Y|DSN1_ENST00000373750.4_Missense_Mutation_p.C65Y	NM_001145316.1	NP_001138788.1	Q9H410	DSN1_HUMAN	DSN1, MIS12 kinetochore complex component	65					cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding	p.C65Y(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	16		Myeloproliferative disorder(115;0.00874)				GCTGAGATCACAATTTCCCCC	0.478													11	186					0	0	0.38729	0	0	T	35399437	C	T	35399437	3	4	119	1	0	0	0	0	1	0	0	0	4806	478	17	2	912	2	DSN1	20	35399437	Missense_Mutation	SNP	C	TCGA-G9-6336-01A-11D-1786-08		35399437	27626083	25	6058											
SUSD2	56241	broad.mit.edu	37	chr22	24581177	24581177	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gccaggcctgggaggagctgGaggatcagctgcccaacttc	8	6	15	12	0	1	0	1	0	0	0	2	4	1	4	3	5	4	2	3	5	1	1			TCGA-G9-6336-01A-11D-1786-08	TCGA-G9-6336-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab318624-db9d-41d8-b7b8-34712434f28f	aefe7099-96e0-481c-bbfe-1566024df395	g.chr22:24581177G>C	ENST00000358321.3	+	6	1159	c.898G>C	c.(898-900)Gag>Cag	p.E300Q		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	300	AMOP.				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity	p.E300Q(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						GGAGGAGCTGGAGGATCAGCT	0.672													10	46					0	0	0.38729	0	0	C	24581177	G	C	24581177	3	2	119	1	0	0	0	0	1	0	0	0	15464	1175	41	4	920	4	SUSD2	22	24581177	Missense_Mutation	SNP	G	TCGA-G9-6336-01A-11D-1786-08		24581177	26723389	26	6059											
LCE2D	353141	broad.mit.edu	37	chr1	152636615	152636615	+	Frame_Shift_Del	DEL	C	C	-																															aaaaccagcagcagtgccagCcccctcccaaatgtcctccc																										TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr1:152636615delC	ENST00000368784.1	+	2	89	c.34delC	c.(34-36)ccfs	p.P14fs		NM_178430.2	NP_848517.1	Q5TA82	LCE2D_HUMAN	late cornified envelope 2D	14	Cys-rich.				keratinization					large_intestine(1)|lung(7)|prostate(2)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCAGTGCCAGCCCCCTCCCAA	0.493													15	145	---	---	---	---						-	152636615	C	-	152636615	7	5	120	1	0	1	0	1	0	0	0	0	8707	739	26	0	36	0	LCE2D	1	152636615	Frame_Shift_Del	DEL	C	TCGA-G9-6338-01A-12D-1961-08		152636615	96614006	1	6060											
C2orf44	80304	broad.mit.edu	37	chr2	24261454	24261454	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgtcaagtagtccttttttCttagacaaataagagaatta	14	15	6	6	0	2	2	1	0	1	2	3	3	3	2	1	0	0	1	1	0	7	7			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr2:24261454C>G	ENST00000295148.4	-	2	968	c.911G>C	c.(910-912)aGa>aCa	p.R304T	C2orf44_ENST00000406895.3_Missense_Mutation_p.R304T	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	304							protein binding		C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCCTTTTTTCTTAGACAAAT	0.373			T	ALK	NSCLC								13	54					0	0	0.00136819	0	0	G	24261454	C	G	24261454	3	3	120	1	0	0	0	0	1	0	0	0	2182	913	32	4	1266	4	C2orf44	2	24261454	Missense_Mutation	SNP	C	TCGA-G9-6338-01A-12D-1961-08		24261454	218937919	2	6061											
ZNF142	7701	broad.mit.edu	37	chr2	219505430	219505430	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcagctggttgacccacttGcacttgtagccacactcagg	8	11	9	13	0	2	1	2	1	0	0	2	1	2	1	2	2	3	4	2	2	1	5			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr2:219505430G>C	ENST00000411696.2	-	8	5330	c.4551C>G	c.(4549-4551)tgC>tgG	p.C1517W	ZNF142_ENST00000449707.1_Missense_Mutation_p.C1517W			P52746	ZN142_HUMAN	zinc finger protein 142	1517					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TGACCCACTTGCACTTGTAGC	0.493													16	29					0	0	0.000566183	0	0	C	219505430	G	C	219505430	3	2	120	1	0	0	0	0	1	0	0	0	17789	1311	46	4	520	4	ZNF142	2	219505430	Missense_Mutation	SNP	G	TCGA-G9-6338-01A-12D-1961-08	195243976	219505430	23693943	3	6062											
CHDH	55349	broad.mit.edu	37	chr3	53857978	53857992	+	In_Frame_Del	DEL	CCAGGGCTCCCCGTG	CCAGGGCTCCCCGTG	-																															acccagggattgctgctgccCcagggctccccgtgccaggg																								rs61746180	by1000genomes	TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr3:53857978_53857992delCCAGGGCTCCCCGTG	ENST00000315251.5	-	3	481_495	c.44_58delCACGGGGAGCCCTGG	c.(43-60)ggg>g	p.ARGALG15del		NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN	choline dehydrogenase	15					alcohol metabolic process		choline dehydrogenase activity|flavin adenine dinucleotide binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	TGCTGCTGCCCCAGGGCTCCCCGTGCCAGGGCTCC	0.665													3	4	---	---	---	---						-	53857992	CCAGGGCTCCCCGTG	-	53857978	7	5	120	1	0	1	0	1	0	0	0	0	3355	623	22	0	1754	0	CHDH	3	53857978	In_Frame_Del	DEL	CCAGGGCTCCCCGTG	TCGA-G9-6338-01A-12D-1961-08		53857978	144164452	4	6063											
PTPRG	5793	broad.mit.edu	37	chr3	62240850	62240850	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcaaacacatcggtgagcTctattctaataaccagcatg	13	11	7	10	1	3	1	1	1	2	0	4	1	3	1	1	1	4	2	1	1	4	4			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr3:62240850T>G	ENST00000474889.1	+	16	2896	c.2519T>G	c.(2518-2520)cTc>cGc	p.L840R	PTPRG_ENST00000295874.10_Missense_Mutation_p.L811R	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	840					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		ATCGGTGAGCTCTATTCTAAT	0.368													34	60					0	0	0.000953801	0	0	G	62240850	T	G	62240850	3	3	120	1	0	0	0	0	1	0	0	0	12854	1551	54	5	2581	5	PTPRG	3	62240850	Missense_Mutation	SNP	T	TCGA-G9-6338-01A-12D-1961-08	8382872	62240850	135781580	5	6064											
GXYLT2	727936	broad.mit.edu	37	chr3	73016753	73016753	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtcccgatcactgcatgtaCggaagcaactgcagagaggc	11	6	12	12	3	1	1	1	0	0	1	2	4	2	2	1	2	5	4	1	2	3	1			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr3:73016753C>T	ENST00000389617.4	+	6	1193	c.1032C>T	c.(1030-1032)taC>taT	p.Y344Y		NM_001080393.1	NP_001073862.1	A0PJZ3	GXLT2_HUMAN	glucoside xylosyltransferase 2	344					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity	p.Y344Y(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						ACTGCATGTACGGAAGCAACT	0.498													5	19					0	0	0.000602214	0	0	T	73016753	C	T	73016753	2	4	120	1	0	0	0	0	0	0	0	1	6945	547	19	1		1	GXYLT2	3	73016753	Silent	SNP	C	TCGA-G9-6338-01A-12D-1961-08	10775903	73016753	125005677	6	6065											
HTT	3064	broad.mit.edu	37	chr4	3176835	3176835	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtcttctggattcagatcagGtttgtcacttttatctttca	7	19	7	8	0	7	1	4	0	3	1	7	2	7	2	0	2	0	1	0	2	1	6			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr4:3176835G>C	ENST00000355072.5	+	33	4552		c.e33+1			NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin						establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TTCAGATCAGGTTTGTCACTT	0.388													10	117					0	0	0.000442599	0	0	C	3176835	G	C	3176835	5	2	120	1	0	0	0	0	0	0	1	0	7501	1275	44	4	4538	4	HTT	4	3176835	Splice_Site	SNP	G	TCGA-G9-6338-01A-12D-1961-08		3176835	187977441	7	6066											
ZNF827	152485	broad.mit.edu	37	chr4	146823855	146823855	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attccatataaaacggttacTtggagtgtattggtcattct	11	16	8	6	1	2	0	1	0	1	0	3	1	3	1	1	3	2	2	1	3	5	8			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr4:146823855T>G	ENST00000508784.1	-	2	783	c.556A>C	c.(556-558)Agt>Cgt	p.S186R	ZNF827_ENST00000513320.1_Intron|ZNF827_ENST00000379448.4_Missense_Mutation_p.S186R			Q17R98	ZN827_HUMAN	zinc finger protein 827	186					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					AAACGGTTACTTGGAGTGTAT	0.517													6	83					0	0	0.00116845	0	0	G	146823855	T	G	146823855	3	3	120	1	0	0	0	0	1	0	0	0	18227	1609	56	5	2725	5	ZNF827	4	146823855	Missense_Mutation	SNP	T	TCGA-G9-6338-01A-12D-1961-08	143647020	146823855	44330421	8	6067											
PCDHB4	0	broad.mit.edu	37	chr5	140502262	140502262	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtctggcacggtcatggttCgaatcctgatcatggacatc	8	11	12	10	2	3	1	2	1	1	0	6	3	4	2	1	5	0	2	1	5	1	1			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr5:140502262C>T	ENST00000194152.1	+	1	682	c.682C>T	c.(682-684)Cga>Tga	p.R228*		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		228	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	p.R228*(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTCATGGTTCGAATCCTGAT	0.542													6	123					0	0	0.00116845	0	0	T	140502262	C	T	140502262	4	4	120	1	0	0	0	0	0	1	0	0	11591	876	31	1	684	1	PCDHB4	5	140502262	Nonsense_Mutation	SNP	C	TCGA-G9-6338-01A-12D-1961-08		140502262	40412998	9	6068											
KCNK5	8645	broad.mit.edu	37	chr6	39158873	39158873	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggacttggaggtctcctcGtctgagaggccagcctccgt	6	9	14	12	2	2	1	0	1	2	1	5	5	3	3	4	4	1	0	4	4	0	1	rs144931567		TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr6:39158873G>A	ENST00000359534.3	-	5	1631	c.1293C>T	c.(1291-1293)gaC>gaT	p.D431D		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	431					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity	p.D431D(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						AGGTCTCCTCGTCTGAGAGGC	0.632													4	38					0	0	0.00024832	0	0	A	39158873	G	A	39158873	2	1	120	1	0	0	0	0	0	0	0	1	8113	1136	40	1		1	KCNK5	6	39158873	Silent	SNP	G	TCGA-G9-6338-01A-12D-1961-08		39158873	131956194	10	6069											
SLC22A16	85413	broad.mit.edu	37	chr6	110768172	110768172	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctactgcttgtggcccaCaagaccacccggcgtcctag	8	8	10	15	2	0	1	0	0	0	1	1	1	1	1	4	2	3	2	4	2	3	3			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr6:110768172C>A	ENST00000368919.3	-	3	621	c.555G>T	c.(553-555)ttG>ttT	p.L185F	SLC22A16_ENST00000456137.2_3'UTR|SLC22A16_ENST00000439654.1_Missense_Mutation_p.L185F|SLC22A16_ENST00000330550.4_Missense_Mutation_p.L151F	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	185					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		TTGTGGCCCACAAGACCACCC	0.443													13	21					1.61879e-10	6.28091e-10	0.00136819	1	0	A	110768172	C	A	110768172	3	1	120	1	0	0	0	0	1	0	0	0	14502	477	17	4	1202	4	SLC22A16	6	110768172	Missense_Mutation	SNP	C	TCGA-G9-6338-01A-12D-1961-08	71609299	110768172	60346895	11	6070											
ENPP1	5167	broad.mit.edu	37	chr6	132195457	132195457	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggatttcatggctctgacAatgtattttcaaatatgcaa	12	15	8	6	0	3	1	2	1	1	0	3	2	3	2	0	2	1	3	0	2	5	5			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr6:132195457A>G	ENST00000360971.2	+	16	1635	c.1615A>G	c.(1615-1617)Aat>Gat	p.N539D		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	539	Phosphodiesterase.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TGGCTCTGACAATGTATTTTC	0.279													39	67					0	0	0.00222228	0	0	G	132195457	A	G	132195457	3	3	120	1	0	0	0	0	1	0	0	0	5157	130	5	3	1677	3	ENPP1	6	132195457	Missense_Mutation	SNP	A	TCGA-G9-6338-01A-12D-1961-08	21427285	132195457	38919610	12	6071											
NRCAM	4897	broad.mit.edu	37	chr7	107880413	107880413	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taatacttacgatcaagaggTacttccagtgcactaatcat	14	12	6	9	1	2	1	2	0	0	1	3	2	3	1	1	1	4	2	1	1	6	6			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr7:107880413T>C	ENST00000379028.3	-	4	566	c.96A>G	c.(94-96)gtA>gtG	p.V32V	NRCAM_ENST00000425651.2_Silent_p.V32V|NRCAM_ENST00000379022.4_Silent_p.V32V|NRCAM_ENST00000351718.4_Silent_p.V32V|NRCAM_ENST00000413765.2_Silent_p.V32V|NRCAM_ENST00000379024.4_Silent_p.V32V			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	32					angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						GATCAAGAGGTACTTCCAGTG	0.458													16	152					0	0	0.00074312	0	0	C	107880413	T	C	107880413	2	2	120	1	0	0	0	0	0	0	0	1	10692	1625	57	3		3	NRCAM	7	107880413	Silent	SNP	T	TCGA-G9-6338-01A-12D-1961-08		107880413	51258250	13	6072											
NCAPG2	54892	broad.mit.edu	37	chr7	158443616	158443616	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtgtctgtgtgccgagactGaacagcagtaatgaactcat	11	10	12	8	1	2	3	1	2	1	1	2	4	2	3	1	1	4	2	1	1	3	1			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr7:158443616G>A	ENST00000409339.3	-	24	3096	c.2983C>T	c.(2983-2985)Cag>Tag	p.Q995*	NCAPG2_ENST00000409423.1_Nonsense_Mutation_p.Q995*|NCAPG2_ENST00000449727.2_Nonsense_Mutation_p.Q995*|NCAPG2_ENST00000275830.10_Intron|NCAPG2_ENST00000541468.1_Intron|NCAPG2_ENST00000356309.3_Nonsense_Mutation_p.Q995*			Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	995					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		TGCCGAGACTGAACAGCAGTA	0.463													12	98					0	0	0.00136819	0	0	A	158443616	G	A	158443616	4	1	120	1	0	0	0	0	0	1	0	0	10255	1299	45	2	468	2	NCAPG2	7	158443616	Nonsense_Mutation	SNP	G	TCGA-G9-6338-01A-12D-1961-08	50563203	158443616	695047	14	6073											
RGP1	9827	broad.mit.edu	37	chr9	35751280	35751280	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taggccttcaggatgtccggTttccccaggatgaggctgta	7	11	13	10	1	1	1	1	1	0	0	3	3	3	3	4	5	0	3	4	5	2	4			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr9:35751280T>G	ENST00000378078.4	+	6	646	c.505T>G	c.(505-507)Ttt>Gtt	p.F169V	RGP1_ENST00000456972.2_Missense_Mutation_p.F209V	NM_001080496.2	NP_001073965.2	Q92546	RGP1_HUMAN	RGP1 retrograde golgi transport homolog (S. cerevisiae)	169										cervix(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGATGTCCGGTTTCCCCAGGA	0.512													32	338					0	0	0.000692331	0	0	G	35751280	T	G	35751280	3	3	120	1	0	0	0	0	1	0	0	0	13336	1725	60	5	651	5	RGP1	9	35751280	Missense_Mutation	SNP	T	TCGA-G9-6338-01A-12D-1961-08		35751280	105462151	15	6074											
KIN	22944	broad.mit.edu	37	chr10	7822139	7822139	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgttgtggacccttttagTgcctgagaacaaaatatgac	11	13	10	7	0	0	2	0	2	0	1	0	4	0	3	2	1	2	2	2	1	5	5			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr10:7822139T>G	ENST00000379562.3	-	4	303	c.256A>C	c.(256-258)Act>Cct	p.T86P	KIN_ENST00000535925.1_Missense_Mutation_p.T86P|KIN_ENST00000543003.1_5'UTR			O60870	KIN17_HUMAN	KIN, antigenic determinant of recA protein homolog (mouse)	86					DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	double-stranded DNA binding|RNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						ACCCTTTTAGTGCCTGAGAAC	0.388													31	78					0	0	0.00209593	0	0	G	7822139	T	G	7822139	3	3	120	1	0	0	0	0	1	0	0	0	8358	1696	59	5	965	5	KIN	10	7822139	Missense_Mutation	SNP	T	TCGA-G9-6338-01A-12D-1961-08		7822139	127712608	16	6075											
ST8SIA6	338596	broad.mit.edu	37	chr10	17365107	17365107	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatagtcacaagatttgtttTactgccaacatctttactaa	13	16	4	8	0	2	1	1	0	1	1	2	1	2	1	1	0	4	1	1	0	7	8			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr10:17365107T>C	ENST00000377602.4	-	7	759	c.685A>G	c.(685-687)Aaa>Gaa	p.K229E		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	229					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						AGATTTGTTTTACTGCCAACA	0.333													25	50					0	0	0.00106085	0	0	C	17365107	T	C	17365107	3	2	120	1	0	0	0	0	1	0	0	0	15292	1763	61	3	519	3	ST8SIA6	10	17365107	Missense_Mutation	SNP	T	TCGA-G9-6338-01A-12D-1961-08	9542968	17365107	118169640	17	6076											
ANKRD30A	91074	broad.mit.edu	37	chr10	37508447	37508447	+	Nonsense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaaaaattaatctcaattaTgcaggagatgctctaagaga	17	11	7	6	0	2	2	1	0	2	2	3	4	2	2	0	1	2	2	0	1	7	4			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr10:37508447T>G	ENST00000374660.1	+	40	4095	c.3996T>G	c.(3994-3996)taT>taG	p.Y1332*	ANKRD30A_ENST00000602533.1_Nonsense_Mutation_p.Y1213*|ANKRD30A_ENST00000361713.1_Nonsense_Mutation_p.Y1213*			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1269						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ATCTCAATTATGCAGGAGATG	0.373													3	36					0	0	6.4e-05	0	0	G	37508447	T	G	37508447	4	3	120	1	0	0	0	0	0	1	0	0	654	1471	51	5	3773	5	ANKRD30A	10	37508447	Nonsense_Mutation	SNP	T	TCGA-G9-6338-01A-12D-1961-08	20143340	37508447	98026300	18	6077											
AIFM2	84883	broad.mit.edu	37	chr10	71877572	71877572	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgagggtgcacgtactcagCagcagctgcacgcccttccg	7	7	13	14	3	1	1	1	1	0	0	2	1	2	1	2	1	6	6	2	1	1	2			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr10:71877572C>A	ENST00000307864.1	-	6	825	c.612G>T	c.(610-612)ctG>ctT	p.L204L	AIFM2_ENST00000373248.1_Silent_p.L204L|AIFM2_ENST00000482166.1_5'UTR	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	Q9BRQ8	AIFM2_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 2	204					apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis	cytosol|integral to membrane|mitochondrial outer membrane	DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						ACGTACTCAGCAGCAGCTGCA	0.637													8	64					0.000442599	0.00168361	0.000442599	1	0	A	71877572	C	A	71877572	2	1	120	1	0	0	0	0	0	0	0	1	424	697	25	4		4	AIFM2	10	71877572	Silent	SNP	C	TCGA-G9-6338-01A-12D-1961-08	34369125	71877572	63657175	19	6078											
MADD	8567	broad.mit.edu	37	chr11	47350634	47350634	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctccgtattatgtctcttctCgtacgtggctgcagttcata	6	16	8	11	3	3	0	1	0	2	0	6	0	4	0	1	1	2	5	1	1	4	6			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr11:47350634C>T	ENST00000342922.4	+	33	5057	c.4700C>T	c.(4699-4701)tCg>tTg	p.S1567L	MADD_ENST00000407859.3_Missense_Mutation_p.S1544L|MADD_ENST00000406482.1_3'UTR|MADD_ENST00000402799.1_Missense_Mutation_p.S1524L|MADD_ENST00000395336.3_3'UTR|MADD_ENST00000395344.3_Missense_Mutation_p.S1520L|MADD_ENST00000349238.3_Missense_Mutation_p.S1587L|MADD_ENST00000311027.5_Missense_Mutation_p.S1626L|MADD_ENST00000402192.2_Missense_Mutation_p.S1566L	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	1626					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		TGTCTCTTCTCGTACGTGGCT	0.557													80	121					0	0	0.000781405	0	0	T	47350634	C	T	47350634	3	4	120	1	0	0	0	0	1	0	0	0	9198	893	31	1	5015	1	MADD	11	47350634	Missense_Mutation	SNP	C	TCGA-G9-6338-01A-12D-1961-08		47350634	87655882	20	6079											
OR1S2	219958	broad.mit.edu	37	chr11	57971223	57971223	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccgcatgaaagttgtatagTtcagagggtggcagatcgcc	10	9	13	9	2	1	3	1	1	0	2	2	3	1	3	2	2	0	5	2	2	3	4			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr11:57971223T>C	ENST00000302592.6	-	1	430	c.431A>G	c.(430-432)aAc>aGc	p.N144S		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				AGTTGTATAGTTCAGAGGGTG	0.463													14	100					0	0	0.00244969	0	0	C	57971223	T	C	57971223	3	2	120	1	0	0	0	0	1	0	0	0	11021	1725	60	3	549	3	OR1S2	11	57971223	Missense_Mutation	SNP	T	TCGA-G9-6338-01A-12D-1961-08	10620589	57971223	77035293	21	6080											
FADS3	3995	broad.mit.edu	37	chr11	61641315	61641315	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtaggcgtccagccagaTgtcaccagacttcttcaggg	9	8	13	11	1	3	2	2	0	1	2	4	3	4	2	3	3	1	1	3	3	1	3			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr11:61641315T>C	ENST00000278829.2	-	12	1461	c.1309A>G	c.(1309-1311)Atc>Gtc	p.I437V	FADS3_ENST00000525588.1_Missense_Mutation_p.I409V|FADS3_ENST00000540820.1_3'UTR|FADS3_ENST00000527697.1_Missense_Mutation_p.I322V	NM_021727.3	NP_068373.1	Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3	437					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TCCAGCCAGATGTCACCAGAC	0.622													3	28					0	0	0.00024832	0	0	C	61641315	T	C	61641315	3	2	120	1	0	0	0	0	1	0	0	0	5398	1464	51	3	32	3	FADS3	11	61641315	Missense_Mutation	SNP	T	TCGA-G9-6338-01A-12D-1961-08	3670092	61641315	73365201	22	6081											
WNK1	65125	broad.mit.edu	37	chr12	966384	966384	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgaagtgaaggaaattattGaaggatgcatacgacaaaac	18	8	10	5	1	0	3	0	3	0	0	0	6	0	5	0	2	3	1	0	2	8	3			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr12:966384G>A	ENST00000537687.1	+	5	2012	c.1369G>A	c.(1369-1371)Gaa>Aaa	p.E457K	WNK1_ENST00000340908.4_Missense_Mutation_p.E50K|WNK1_ENST00000315939.6_Missense_Mutation_p.E457K|WNK1_ENST00000535572.1_Missense_Mutation_p.E457K|WNK1_ENST00000530271.2_Missense_Mutation_p.E457K|WNK1_ENST00000540360.1_3'UTR	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	457	Protein kinase.				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GGAAATTATTGAAGGATGCAT	0.373													23	29					0	0	0.000878237	0	0	A	966384	G	A	966384	3	1	120	1	0	0	0	0	1	0	0	0	17437	1291	45	2	1387	2	WNK1	12	966384	Missense_Mutation	SNP	G	TCGA-G9-6338-01A-12D-1961-08		966384	132885511	23	6082											
CNOT2	4848	broad.mit.edu	37	chr12	70723332	70723332	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaacaatgtcacttcacaCgcctccatctccaagcaggt	12	8	5	16	1	3	0	2	0	1	0	5	0	4	0	4	1	2	1	4	1	3	1			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr12:70723332C>T	ENST00000229195.3	+	5	947	c.368C>T	c.(367-369)aCg>aTg	p.T123M	CNOT2_ENST00000548230.1_3'UTR|CNOT2_ENST00000418359.3_Missense_Mutation_p.T123M	NM_014515.5	NP_055330.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	123					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			TCACTTCACACGCCTCCATCT	0.398													24	50					0	0	0.000878237	0	0	T	70723332	C	T	70723332	3	4	120	1	0	0	0	0	1	0	0	0	3642	536	19	1	382	1	CNOT2	12	70723332	Missense_Mutation	SNP	C	TCGA-G9-6338-01A-12D-1961-08	69756948	70723332	63128563	24	6083											
TP53BP1	7158	broad.mit.edu	37	chr15	43748753	43748753	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actctccatattttcttcttTgagttcctctccttgacttt	5	21	3	12	0	4	2	0	2	4	0	7	2	5	2	3	0	0	1	3	0	1	8			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr15:43748753T>A	ENST00000263801.3	-	12	2290	c.2038A>T	c.(2038-2040)Aaa>Taa	p.K680*	TP53BP1_ENST00000382044.4_Nonsense_Mutation_p.K685*|TP53BP1_ENST00000450115.2_Nonsense_Mutation_p.K685*|TP53BP1_ENST00000382039.3_Nonsense_Mutation_p.K685*	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	680					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TTTTCTTCTTTGAGTTCCTCT	0.443								Other conserved DNA damage response genes					10	127					0	0	0.000442599	0	0	A	43748753	T	A	43748753	4	1	120	1	0	0	0	0	0	1	0	0	16444	1821	63	5	3948	5	TP53BP1	15	43748753	Nonsense_Mutation	SNP	T	TCGA-G9-6338-01A-12D-1961-08		43748753	58782639	25	6084											
HS3ST6	64711	broad.mit.edu	37	chr16	1961822	1961822	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acgacccgtttcaggcccagGaagtcctgcacgcggccgac	8	5	12	16	5	1	0	1	0	0	0	2	3	2	1	4	3	1	2	4	3	1	1			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr16:1961822G>A	ENST00000454677.2	-	2	914	c.849C>T	c.(847-849)ttC>ttT	p.F283F	HS3ST6_ENST00000293937.3_Silent_p.F266F|HS3ST6_ENST00000443547.1_Silent_p.F235F			C9JH64	C9JH64_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 6	235										endometrium(2)|lung(2)	4						TCAGGCCCAGGAAGTCCTGCA	0.667													13	143					0	0	0.00244969	0	0	A	1961822	G	A	1961822	2	1	120	1	0	0	0	0	0	0	0	1	7410	1165	41	2		2	HS3ST6	16	1961822	Silent	SNP	G	TCGA-G9-6338-01A-12D-1961-08		1961822	88392931	26	6085											
CDH3	1001	broad.mit.edu	37	chr16	68732283	68732283	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaagctggcagacatgtacGgtggcggggaggacgactag	11	5	18	7	3	0	2	0	0	0	2	0	5	0	4	0	6	2	3	0	6	3	2			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr16:68732283G>A	ENST00000264012.4	+	16	3014	c.2470G>A	c.(2470-2472)Ggt>Agt	p.G824S	CDH3_ENST00000429102.2_3'UTR|CDH3_ENST00000581171.1_Missense_Mutation_p.G769S	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	824					adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		AGACATGTACGGTGGCGGGGA	0.617													40	58					0	0	0.00285205	0	0	A	68732283	G	A	68732283	3	1	120	1	0	0	0	0	1	0	0	0	3133	1116	39	1	2532	1	CDH3	16	68732283	Missense_Mutation	SNP	G	TCGA-G9-6338-01A-12D-1961-08	66770461	68732283	21622470	27	6086											
HOXB13	10481	broad.mit.edu	37	chr17	46805442	46805442	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagccaccagcgagagcccAagactggtaactgtccacag	12	4	10	15	1	0	2	0	0	0	2	1	3	1	2	5	1	4	1	5	1	2	1			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr17:46805442A>C	ENST00000290295.7	-	1	1098	c.514T>G	c.(514-516)Tgg>Ggg	p.W172G		NM_006361.5	NP_006352.2	Q92826	HXB13_HUMAN	homeobox B13	172					angiogenesis|epidermis development|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|lung(6)|prostate(1)	11						GCGAGAGCCCAAGACTGGTAA	0.567													30	41					0	0	0.00178596	0	0	C	46805442	A	C	46805442	3	2	120	1	0	0	0	0	1	0	0	0	7341	130	5	5	348	5	HOXB13	17	46805442	Missense_Mutation	SNP	A	TCGA-G9-6338-01A-12D-1961-08		46805442	34389768	28	6087											
SPOP	8405	broad.mit.edu	37	chr17	47696637	47696637	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttggcattcaggatggagAatttgaattttgcccgaact	10	13	10	8	1	1	2	1	1	0	1	1	5	1	3	2	3	2	1	2	3	3	5			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr17:47696637A>G	ENST00000393331.3	-	6	781	c.311T>C	c.(310-312)tTc>tCc	p.F104S	SPOP_ENST00000393328.2_Missense_Mutation_p.F104S|SPOP_ENST00000504102.1_Missense_Mutation_p.F104S|SPOP_ENST00000503676.1_Missense_Mutation_p.F104S|SPOP_ENST00000347630.2_Missense_Mutation_p.F104S	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	104	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CAGGATGGAGAATTTGAATTT	0.408										Prostate(2;0.17)			44	73					0	0	0.00285205	0	0	G	47696637	A	G	47696637	3	3	120	1	0	0	0	0	1	0	0	0	15140	246	9	3	841	3	SPOP	17	47696637	Missense_Mutation	SNP	A	TCGA-G9-6338-01A-12D-1961-08	891195	47696637	33498573	29	6088											
UNC13D	201294	broad.mit.edu	37	chr17	73838576	73838576	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgacctgcgtgcggtgggtCtcctcctcggggatggtgtg	3	11	17	10	3	1	1	0	1	1	0	4	2	2	2	3	5	2	0	3	5	0	0			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr17:73838576C>G	ENST00000207549.4	-	6	886	c.507G>C	c.(505-507)gaG>gaC	p.E169D	UNC13D_ENST00000587504.1_5'UTR|UNC13D_ENST00000412096.2_Missense_Mutation_p.E169D	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	169	C2 1.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGCGGTGGGTCTCCTCCTCGG	0.667									Familial Hemophagocytic Lymphohistiocytosis				12	69					0	0	0.00136819	0	0	G	73838576	C	G	73838576	3	3	120	1	0	0	0	0	1	0	0	0	17047	912	32	4	2873	4	UNC13D	17	73838576	Missense_Mutation	SNP	C	TCGA-G9-6338-01A-12D-1961-08	26141939	73838576	7356634	30	6089											
FBN3	84467	broad.mit.edu	37	chr19	8140171	8140171	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagctgggctgtaccttcAcagccatggcctgagctgac	9	8	11	13	0	1	2	1	2	0	0	1	2	1	2	3	2	4	4	3	2	2	2			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr19:8140171A>C	ENST00000600128.1	-	60	7992	c.7578T>G	c.(7576-7578)tgT>tgG	p.C2526W	FBN3_ENST00000601739.1_Missense_Mutation_p.C2526W|FBN3_ENST00000270509.2_Missense_Mutation_p.C2526W			Q75N90	FBN3_HUMAN	fibrillin 3	2526	EGF-like 41; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CTGTACCTTCACAGCCATGGC	0.602													22	40					0	0	0.00229938	0	0	C	8140171	A	C	8140171	3	2	120	1	0	0	0	0	1	0	0	0	5737	157	6	5	871	5	FBN3	19	8140171	Missense_Mutation	SNP	A	TCGA-G9-6338-01A-12D-1961-08		8140171	50988812	31	6090											
SLC24A3	57419	broad.mit.edu	37	chr20	19566136	19566136	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcaccatcgtgggctcagCggtattcaacatcctgtgca	8	10	11	12	2	2	0	2	0	0	0	4	0	3	0	2	3	3	4	2	3	2	2			TCGA-G9-6338-01A-12D-1961-08	TCGA-G9-6338-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9708a4f-76b5-4eb5-9831-a1f069096578	e152fd51-11d4-46c4-b803-1b79e8f6cf18	g.chr20:19566136C>T	ENST00000328041.6	+	6	757	c.560C>T	c.(559-561)gCg>gTg	p.A187V		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	187						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GTGGGCTCAGCGGTATTCAAC	0.527													10	288					0	0	0.000978159	0	0	T	19566136	C	T	19566136	3	4	120	1	0	0	0	0	1	0	0	0	14522	768	27	1	582	1	SLC24A3	20	19566136	Missense_Mutation	SNP	C	TCGA-G9-6338-01A-12D-1961-08		19566136	43459384	32	6091											
PRAMEF12	390999	broad.mit.edu	37	chr1	12836145	12836145	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcctgcattcccctagaCaggaaggagcagtttgtcat	9	11	10	11	0	2	1	1	0	1	1	3	3	3	3	3	2	3	3	3	2	2	3			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr1:12836145C>G	ENST00000357726.4	+	2	774	c.747C>G	c.(745-747)gaC>gaG	p.D249E		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	249										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTCCCCTAGACAGGAAGGAGC	0.498													22	105					0	0	1	0	0	G	12836145	C	G	12836145	3	3	121	1	0	0	0	0	1	0	0	0	12476	477	17	4	753	4	PRAMEF12	1	12836145	Missense_Mutation	SNP	C	TCGA-G9-6339-01A-12D-A30X-08		12836145	236414476	1	6092											
SYTL1	84958	broad.mit.edu	37	chr1	27674032	27674032	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctctgaccttgtccgagcGtctatgcgcaggaagaagag	9	8	14	10	3	2	3	0	1	2	2	3	5	3	4	2	2	2	2	2	2	3	2			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr1:27674032G>A	ENST00000543823.1	+	2	774	c.312G>A	c.(310-312)gcG>gcA	p.A104A	SYTL1_ENST00000318074.5_Silent_p.A104A			Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	104					exocytosis|intracellular protein transport	extrinsic to plasma membrane|melanosome|soluble fraction	neurexin binding|Rab GTPase binding			NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TTGTCCGAGCGTCTATGCGCA	0.632													19	53					0	0	1	0	0	A	27674032	G	A	27674032	2	1	121	1	0	0	0	0	0	0	0	1	15539	1132	40	1		1	SYTL1	1	27674032	Silent	SNP	G	TCGA-G9-6339-01A-12D-A30X-08	14837887	27674032	221576589	2	6093											
ZNF326	284695	broad.mit.edu	37	chr1	90473286	90473286	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgcttttggaggaccatcaAcaggcagaggccgaggccga	11	6	14	10	2	1	1	1	0	0	1	1	5	1	3	3	5	2	2	3	5	1	2			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr1:90473286A>G	ENST00000340281.4	+	5	735	c.592A>G	c.(592-594)Aca>Gca	p.T198A	ZNF326_ENST00000455342.2_Intron|ZNF326_ENST00000370447.2_Missense_Mutation_p.T109A	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	198	Gly-rich.				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)		AGGACCATCAACAGGCAGAGG	0.463													7	51					0	0	1	0	0	G	90473286	A	G	90473286	3	3	121	1	0	0	0	0	1	0	0	0	17903	43	2	3	614	3	ZNF326	1	90473286	Missense_Mutation	SNP	A	TCGA-G9-6339-01A-12D-A30X-08	62799254	90473286	158777335	3	6094											
FLG	2312	broad.mit.edu	37	chr1	152279919	152279919	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtgtccagatctatctacCaattgctcgtagtgggatcc	9	12	10	10	1	2	1	0	0	2	1	5	3	4	2	3	1	2	2	3	1	4	4			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr1:152279919C>T	ENST00000368799.1	-	3	7478	c.7443G>A	c.(7441-7443)ttG>ttA	p.L2481L	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2481	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATCTATCTACCAATTGCTCGT	0.567									Ichthyosis				8	523					0	0	1	0	0	T	152279919	C	T	152279919	2	4	121	1	0	0	0	0	0	0	0	1	5955	593	21	2		2	FLG	1	152279919	Silent	SNP	C	TCGA-G9-6339-01A-12D-A30X-08	61806633	152279919	96970702	4	6095											
PBXIP1	57326	broad.mit.edu	37	chr1	154924328	154924328	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgtcttggaggggctgtgagGggcctgcagggctctctcag	4	10	18	9	0	3	1	1	1	2	0	4	2	3	2	1	6	1	3	1	6	0	1			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr1:154924328G>A	ENST00000368463.3	-	3	192	c.121C>T	c.(121-123)Cct>Tct	p.P41S	PBXIP1_ENST00000498553.1_Intron|PBXIP1_ENST00000368465.1_Missense_Mutation_p.P12S|PBXIP1_ENST00000539880.1_Intron|PBXIP1_ENST00000542459.1_Intron|PBXIP1_ENST00000368460.3_Missense_Mutation_p.P41S	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	41					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGGCTGTGAGGGGCCTGCAGG	0.582													39	190					0	0	1	0	0	A	154924328	G	A	154924328	3	1	121	1	0	0	0	0	1	0	0	0	11543	1232	43	2	2110	2	PBXIP1	1	154924328	Missense_Mutation	SNP	G	TCGA-G9-6339-01A-12D-A30X-08	2644409	154924328	94326293	5	6096											
NES	10763	broad.mit.edu	37	chr1	156641138	156641138	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtatcttcccacctctgcaCatctgcagactgcggcagct	7	10	8	16	2	3	1	0	0	3	1	4	1	4	1	2	1	4	5	2	1	1	2			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr1:156641138C>T	ENST00000368223.3	-	4	2974	c.2842G>A	c.(2842-2844)Gtg>Atg	p.V948M		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	948	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CACCTCTGCACATCTGCAGAC	0.552													5	247					0	0	1	0	0	T	156641138	C	T	156641138	3	4	121	1	0	0	0	0	1	0	0	0	10384	478	17	2	2027	2	NES	1	156641138	Missense_Mutation	SNP	C	TCGA-G9-6339-01A-12D-A30X-08	1716810	156641138	92609483	6	6097											
NUP133	55746	broad.mit.edu	37	chr1	229577702	229577702	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttgctttcaaaacaaactcGaagtaaggattggactttaa	15	13	7	6	1	1	0	1	0	0	0	2	3	1	2	0	2	3	2	0	2	6	6			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr1:229577702G>A	ENST00000261396.3	-	26	3511	c.3420C>T	c.(3418-3420)ttC>ttT	p.F1140F	NUP133_ENST00000537506.1_Silent_p.F1124F|NUP133_ENST00000366679.1_Intron	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	1140					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				AAACAAACTCGAAGTAAGGAT	0.363													24	68					0	0	1	0	0	A	229577702	G	A	229577702	2	1	121	1	0	0	0	0	0	0	0	1	10802	1049	37	1		1	NUP133	1	229577702	Silent	SNP	G	TCGA-G9-6339-01A-12D-A30X-08	72936564	229577702	19672919	7	6098											
NT5C1B	93034	broad.mit.edu	37	chr2	18745235	18745235	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctatctctagaccccagcGtcgaagggtcttcagcacac	9	9	9	14	2	4	1	1	0	3	1	6	2	4	1	2	1	2	1	2	1	3	3			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr2:18745235G>A	ENST00000304081.4	-	9	1580	c.1480C>T	c.(1480-1482)Cgc>Tgc	p.R494C	NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.R554C|NT5C1B_ENST00000600945.1_Missense_Mutation_p.R554C|NT5C1B_ENST00000359846.2_Missense_Mutation_p.R554C	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB											endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				AGACCCCAGCGTCGAAGGGTC	0.522													16	63					0	0	1	0	0	A	18745235	G	A	18745235	3	1	121	1	0	0	0	0	1	0	0	0	10734	1145	40	1	176	1	NT5C1B	2	18745235	Missense_Mutation	SNP	G	TCGA-G9-6339-01A-12D-A30X-08		18745235	224454138	8	6099											
TSGA10	80705	broad.mit.edu	37	chr2	99725896	99725896	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggacttttagacctacttcGcatcatctttctcaaatgtt	9	17	5	10	1	3	1	2	0	2	1	5	2	3	2	1	1	1	2	1	1	3	6			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr2:99725896G>A	ENST00000393483.3	-	6	851	c.7C>T	c.(7-9)Cga>Tga	p.R3*	TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000542655.1_Nonsense_Mutation_p.R3*|TSGA10_ENST00000355053.4_Nonsense_Mutation_p.R3*|TSGA10_ENST00000539964.1_Nonsense_Mutation_p.R3*|TSGA10_ENST00000410001.1_Nonsense_Mutation_p.R3*	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	3					spermatogenesis	cytoplasm|nuclear membrane				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						GACCTACTTCGCATCATCTTT	0.393													9	52					0	0	1	0	0	A	99725896	G	A	99725896	4	1	121	1	0	0	0	0	0	1	0	0	16678	1095	38	1	2153	1	TSGA10	2	99725896	Nonsense_Mutation	SNP	G	TCGA-G9-6339-01A-12D-A30X-08	80980661	99725896	143473477	9	6100											
SULT1C3	442038	broad.mit.edu	37	chr2	108863658	108863658	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcccagattcccaatggcgaAgattgagaaaaacgctccca	14	7	8	12	2	0	3	0	1	0	3	3	5	3	3	3	1	1	1	3	1	4	2			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr2:108863658A>G	ENST00000376700.1	+	1	8	c.8A>G	c.(7-9)aAg>aGg	p.K3R	SULT1C3_ENST00000329106.2_Missense_Mutation_p.K3R			Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	3						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						CCAATGGCGAAGATTGAGAAA	0.358													13	63					0	0	1	0	0	G	108863658	A	G	108863658	3	3	121	1	0	0	0	0	1	0	0	0	15434	72	3	3	10	3	SULT1C3	2	108863658	Missense_Mutation	SNP	A	TCGA-G9-6339-01A-12D-A30X-08	9137762	108863658	134335715	10	6101											
GCC2	9648	broad.mit.edu	37	chr2	109086210	109086210	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaatgagttgatggcagtacGttccaaatacagtgaagaca	16	9	10	6	1	0	4	0	3	0	1	1	4	1	4	1	1	2	4	1	1	5	4			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr2:109086210G>T	ENST00000309863.6	+	6	1139	c.425G>T	c.(424-426)cGt>cTt	p.R142L	GCC2_ENST00000485546.1_3'UTR	NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	142					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						ATGGCAGTACGTTCCAAATAC	0.338													22	52					4.35082e-09	4.49117e-09	1	1	0	T	109086210	G	T	109086210	3	4	121	1	0	0	0	0	1	0	0	0	6326	1145	40	4	447	4	GCC2	2	109086210	Missense_Mutation	SNP	G	TCGA-G9-6339-01A-12D-A30X-08	222552	109086210	134113163	11	6102											
SPOPL	339745	broad.mit.edu	37	chr2	139318404	139318404	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaataaatgatttagacccTgaagtttttaaagaaatgat	18	13	7	3	0	0	5	0	3	0	2	0	6	0	5	1	0	0	1	1	0	8	6			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr2:139318404T>C	ENST00000280098.4	+	8	1123	c.744T>C	c.(742-744)ccT>ccC	p.P248P		NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	248	BTB.					nucleus				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		ATTTAGACCCTGAAGTTTTTA	0.333													3	52					0	0	1	0	0	C	139318404	T	C	139318404	2	2	121	1	0	0	0	0	0	0	0	1	15141	1567	55	3		3	SPOPL	2	139318404	Silent	SNP	T	TCGA-G9-6339-01A-12D-A30X-08	30232194	139318404	103880969	12	6103											
RPL37	6167	broad.mit.edu	37	chr5	40834355	40834355	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tatttcgtcttttagccttgGcactccagttatctaaaaca	10	16	5	10	1	2	0	0	0	2	0	4	0	3	0	2	1	2	2	2	1	5	7			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr5:40834355G>C	ENST00000274242.5	-	3	301	c.152C>G	c.(151-153)gCc>gGc	p.A51G	RPL37_ENST00000509877.1_Intron|RPL37_ENST00000508493.1_Missense_Mutation_p.A51G|RPL37_ENST00000504562.1_5'UTR	NM_000997.4	NP_000988.1	P61927	RL37_HUMAN	ribosomal protein L37	51					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	metal ion binding|protein binding|rRNA binding|structural constituent of ribosome			lung(3)|ovary(1)	4		Breast(839;0.238)				TTTAGCCTTGGCACTCCAGTT	0.408													15	57					0	0	1	0	0	C	40834355	G	C	40834355	3	2	121	1	0	0	0	0	1	0	0	0	13641	1203	42	4	149	4	RPL37	5	40834355	Missense_Mutation	SNP	G	TCGA-G9-6339-01A-12D-A30X-08		40834355	140080905	13	6104											
HCN1	348980	broad.mit.edu	37	chr5	45695922	45695922	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaactgcctctgcatgaagcCgtactgccgccggggcccct	6	7	12	16	3	1	1	0	1	1	0	1	2	1	1	6	2	6	2	6	2	3	1			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr5:45695922C>T	ENST00000303230.4	-	1	331	c.274G>A	c.(274-276)Ggc>Agc	p.G92S		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	92	Involved in subunit assembly (By similarity).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TGCATGAAGCCGTACTGCCGC	0.697													7	28					0	0	1	0	0	T	45695922	C	T	45695922	3	4	121	1	0	0	0	0	1	0	0	0	7037	652	23	1	2430	1	HCN1	5	45695922	Missense_Mutation	SNP	C	TCGA-G9-6339-01A-12D-A30X-08	4861567	45695922	135219338	14	6105											
GLRA1	2741	broad.mit.edu	37	chr5	151239422	151239422	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtgatctcatggaagtgggCccccttctcgttggcaaaga	8	10	13	10	1	2	2	1	1	2	1	4	3	2	3	2	4	0	2	2	4	2	2			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr5:151239422C>T	ENST00000274576.4	-	4	692	c.400G>A	c.(400-402)Gcc>Acc	p.A134T	GLRA1_ENST00000545569.1_Missense_Mutation_p.A51T|GLRA1_ENST00000471351.2_5'UTR|GLRA1_ENST00000455880.2_Missense_Mutation_p.A134T	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	glycine receptor, alpha 1	134					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TGGAAGTGGGCCCCCTTCTCG	0.522													25	64					0	0	1	0	0	T	151239422	C	T	151239422	3	4	121	1	0	0	0	0	1	0	0	0	6496	739	26	2	997	2	GLRA1	5	151239422	Missense_Mutation	SNP	C	TCGA-G9-6339-01A-12D-A30X-08	105543500	151239422	29675838	15	6106											
TTC1	7265	broad.mit.edu	37	chr5	159476556	159476556	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccagctatatcagggcaataTtgaggagagcagagttgtat	13	10	12	6	0	1	3	1	1	0	2	1	4	1	3	1	2	2	5	1	2	5	6			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr5:159476556T>C	ENST00000231238.5	+	6	687	c.577T>C	c.(577-579)Ttg>Ctg	p.L193L	TTC1_ENST00000520274.1_3'UTR|TTC1_ENST00000522793.1_Silent_p.L193L	NM_003314.1	NP_003305.1	Q99614	TTC1_HUMAN	tetratricopeptide repeat domain 1	193					protein folding		unfolded protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|prostate(1)|skin(1)	12	Renal(175;0.00196)	all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402)		CAGGGCAATATTGAGGAGAGC	0.348													12	30					0	0	1	0	0	C	159476556	T	C	159476556	2	2	121	1	0	0	0	0	0	0	0	1	16740	1490	52	3		3	TTC1	5	159476556	Silent	SNP	T	TCGA-G9-6339-01A-12D-A30X-08	8237134	159476556	21438704	16	6107											
TJAP1	93643	broad.mit.edu	37	chr6	43473228	43473228	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcgcacagcctttggacgcGatgccctccctgagctgcag	7	7	12	15	3	0	1	0	1	0	0	1	3	1	2	3	1	5	3	3	1	0	1	rs142853495		TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr6:43473228G>A	ENST00000372444.2	+	11	1712	c.1279G>A	c.(1279-1281)Gat>Aat	p.D427N	TJAP1_ENST00000259751.1_Missense_Mutation_p.D427N|TJAP1_ENST00000372445.5_Missense_Mutation_p.D437N|TJAP1_ENST00000372449.1_Missense_Mutation_p.D437N|TJAP1_ENST00000436109.2_Missense_Mutation_p.D427N|TJAP1_ENST00000483640.1_3'UTR|TJAP1_ENST00000438588.2_Missense_Mutation_p.D437N|TJAP1_ENST00000372452.1_Missense_Mutation_p.D427N	NM_001146018.1	NP_001139490.1	Q5JTD0	TJAP1_HUMAN	tight junction associated protein 1 (peripheral)	437						Golgi apparatus|tight junction	protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CTTTGGACGCGATGCCCTCCC	0.622													18	58					0	0	1	0	0	A	43473228	G	A	43473228	3	1	121	1	0	0	0	0	1	0	0	0	15988	1058	37	1	1339	1	TJAP1	6	43473228	Missense_Mutation	SNP	G	TCGA-G9-6339-01A-12D-A30X-08		43473228	127641839	17	6108											
BAI3	577	broad.mit.edu	37	chr6	70064192	70064192	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caatgcagattcttcgagttCgtttcctaatgggcatgctc	8	14	9	10	2	1	1	0	0	1	1	5	2	2	1	1	1	2	5	1	1	2	5	rs142863825		TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr6:70064192C>T	ENST00000370598.1	+	27	4348	c.3527C>T	c.(3526-3528)tCg>tTg	p.S1176L	BAI3_ENST00000546190.1_Missense_Mutation_p.S140L|BAI3_ENST00000238918.8_Missense_Mutation_p.S382L	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1176	Poly-Ser.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TCTTCGAGTTCGTTTCCTAAT	0.393													23	77					0	0	1	0	0	T	70064192	C	T	70064192	3	4	121	1	0	0	0	0	1	0	0	0	1298	893	31	1	3625	1	BAI3	6	70064192	Missense_Mutation	SNP	C	TCGA-G9-6339-01A-12D-A30X-08	26590964	70064192	101050875	18	6109											
SLC4A2	6522	broad.mit.edu	37	chr7	150761318	150761318	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagcttgggccctgggacGcctgggttccccgagcagga	6	6	17	12	2	0	1	0	0	0	1	1	5	1	3	4	4	2	3	4	4	0	2	rs142515597	byFrequency	TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr7:150761318G>A	ENST00000485713.1	+	3	1121	c.81G>A	c.(79-81)acG>acA	p.T27T	SLC4A2_ENST00000413384.2_Silent_p.T27T|SLC4A2_ENST00000392826.2_Silent_p.T18T|SLC4A2_ENST00000310317.5_Intron|SLC4A2_ENST00000461735.1_Silent_p.T13T	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	27	Pro-rich.				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCCCTGGGACGCCTGGGTTCC	0.622													20	58					0	0	1	0	0	A	150761318	G	A	150761318	2	1	121	1	0	0	0	0	0	0	0	1	14709	1074	38	1		1	SLC4A2	7	150761318	Silent	SNP	G	TCGA-G9-6339-01A-12D-A30X-08		150761318	8377345	19	6110											
ZFAT	57623	broad.mit.edu	37	chr8	135612780	135612780	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaagatgttactgtgttTctgaattacgtggcgtttaa	10	15	10	6	2	1	2	0	1	1	1	1	2	1	2	0	1	3	4	0	1	5	5			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr8:135612780T>G	ENST00000520727.1	-	8	2637	c.2338A>C	c.(2338-2340)Aaa>Caa	p.K780Q	ZFAT-AS1_ENST00000505776.1_RNA|ZFAT_ENST00000520214.1_Missense_Mutation_p.K780Q|ZFAT_ENST00000520356.1_Missense_Mutation_p.K780Q|ZFAT_ENST00000377838.3_Missense_Mutation_p.K792Q|ZFAT_ENST00000429442.2_Missense_Mutation_p.K780Q|ZFAT_ENST00000523399.1_Missense_Mutation_p.K730Q	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	792					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TTACTGTGTTTCTGAATTACG	0.438													31	109					0	0	1	0	0	G	135612780	T	G	135612780	3	3	121	1	0	0	0	0	1	0	0	0	17690	1792	62	5	1397	5	ZFAT	8	135612780	Missense_Mutation	SNP	T	TCGA-G9-6339-01A-12D-A30X-08		135612780	10751242	20	6111											
C9orf3	84909	broad.mit.edu	37	chr9	97843033	97843033	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agttcacgaaagcctacaaaAgtgtggagaggttccttcag	13	9	11	8	1	2	1	2	0	0	1	3	3	3	1	2	2	2	2	2	2	4	4			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr9:97843033A>G	ENST00000375315.2	+	14	2290	c.2290A>G	c.(2290-2292)Agt>Ggt	p.S764G	C9orf3_ENST00000297979.5_Missense_Mutation_p.S665G|C9orf3_ENST00000433691.2_Missense_Mutation_p.S105G|C9orf3_ENST00000425634.2_Missense_Mutation_p.S126G	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	764					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		AGCCTACAAAAGTGTGGAGAG	0.512													24	65					0	0	1	0	0	G	97843033	A	G	97843033	3	3	121	1	0	0	0	0	1	0	0	0	2495	72	3	3	2039	3	C9orf3	9	97843033	Missense_Mutation	SNP	A	TCGA-G9-6339-01A-12D-A30X-08		97843033	43370398	21	6112											
KIF12	113220	broad.mit.edu	37	chr9	116858369	116858369	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggttgatgctgttagcctcaAgcatcagctccccacgggat	8	10	11	12	1	2	1	2	1	0	0	3	2	3	2	3	2	4	5	3	2	2	2			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr9:116858369A>G	ENST00000374118.3	-	6	680	c.443T>C	c.(442-444)cTt>cCt	p.L148P	KIF12_ENST00000473174.1_Intron	NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN	kinesin family member 12	281	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						GTTAGCCTCAAGCATCAGCTC	0.627													6	116					0	0	1	0	0	G	116858369	A	G	116858369	3	3	121	1	0	0	0	0	1	0	0	0	8315	72	3	3	1142	3	KIF12	9	116858369	Missense_Mutation	SNP	A	TCGA-G9-6339-01A-12D-A30X-08	19015336	116858369	24355062	22	6113											
PCDH15	65217	broad.mit.edu	37	chr10	55591182	55591182	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcctagactttctcctctCtttttaatgctggtcactgc	6	18	5	12	0	3	1	1	0	2	1	6	1	4	1	2	1	2	1	2	1	3	6			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr10:55591182C>A	ENST00000373965.2	-	31	4510	c.4116G>T	c.(4114-4116)aaG>aaT	p.K1372N	PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.K1365N|PCDH15_ENST00000395445.1_Missense_Mutation_p.K1372N|PCDH15_ENST00000437009.1_Missense_Mutation_p.K1294N|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.K1328N|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000414778.1_Missense_Mutation_p.K1370N|PCDH15_ENST00000361849.3_Missense_Mutation_p.K1365N|PCDH15_ENST00000409834.1_Missense_Mutation_p.K976N|PCDH15_ENST00000320301.6_Missense_Mutation_p.K1365N|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.K1343N|PCDH15_ENST00000395430.1_Missense_Mutation_p.K1365N	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1365					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTTCTCCTCTCTTTTTAATGC	0.483										HNSCC(58;0.16)			12	51					2.80697e-09	2.94502e-09	1	1	0	A	55591182	C	A	55591182	3	1	121	1	0	0	0	0	1	0	0	0	11558	912	32	4	3407	4	PCDH15	10	55591182	Missense_Mutation	SNP	C	TCGA-G9-6339-01A-12D-A30X-08		55591182	79943565	23	6114											
CAT	847	broad.mit.edu	37	chr11	34474685	34474685	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaatcctcagacacatctgAaggatccggacatggtctgg	12	8	11	10	1	3	2	1	1	2	1	5	5	5	4	2	4	0	0	2	4	2	0			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr11:34474685A>G	ENST00000241052.4	+	5	618	c.529A>G	c.(529-531)Aag>Gag	p.K177E		NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	177					hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	gacacatctgaaggatccgga	0.398													7	23					0	0	1	0	0	G	34474685	A	G	34474685	3	3	121	1	0	0	0	0	1	0	0	0	2704	247	9	3	547	3	CAT	11	34474685	Missense_Mutation	SNP	A	TCGA-G9-6339-01A-12D-A30X-08		34474685	100531831	24	6115											
PPFIA2	8499	broad.mit.edu	37	chr12	81671195	81671195	+	Frame_Shift_Del	DEL	T	T	-																															tccatattgtaaacttgttcTtttttttttattaaaaaaaa																										TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr12:81671195delT	ENST00000333447.7	-	26	3174	c.3175delA	c.(3175-3177)gafs	p.R1059fs	PPFIA2_ENST00000541017.1_Splice_Site|PPFIA2_ENST00000443686.3_Splice_Site|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000541570.2_Splice_Site|PPFIA2_ENST00000407050.4_Splice_Site|PPFIA2_ENST00000548586.1_Splice_Site|PPFIA2_ENST00000552948.1_Splice_Site|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000549396.1_Splice_Site|PPFIA2_ENST00000549325.1_Splice_Site|PPFIA2_ENST00000550359.2_Splice_Site|PPFIA2_ENST00000550584.2_Splice_Site			B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	970										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						AAACTTGTTCtttttttttta	0.333													2	4	---	---	---	---						-	81671195	T	-	81671195	7	5	121	1	0	1	0	1	0	0	0	0	12355	1623	56	0	582	0	PPFIA2	12	81671195	Frame_Shift_Del	DEL	T	TCGA-G9-6339-01A-12D-A30X-08		81671195	52180700	25	6116											
ELK3	2004	broad.mit.edu	37	chr12	96641092	96641092	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aataaaaccgacaagcacgtCaccaggccggtggtgtccct	12	6	10	13	3	1	0	1	0	0	0	2	1	2	0	4	3	2	1	4	3	4	1			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr12:96641092C>T	ENST00000228741.3	+	3	908	c.582C>T	c.(580-582)gtC>gtT	p.V194V	ELK3_ENST00000552142.1_Intron	NM_005230.2	NP_005221.2	P41970	ELK3_HUMAN	ELK3, ETS-domain protein (SRF accessory protein 2)	194					negative regulation of transcription, DNA-dependent|signal transduction	mitochondrion	protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20	all_cancers(2;0.00173)					ACAAGCACGTCACCAGGCCGG	0.607													7	76					0	0	1	0	0	T	96641092	C	T	96641092	2	4	121	1	0	0	0	0	0	0	0	1	5088	813	29	2		2	ELK3	12	96641092	Silent	SNP	C	TCGA-G9-6339-01A-12D-A30X-08	14969897	96641092	37210803	26	6117											
ANAPC5	51433	broad.mit.edu	37	chr12	121766164	121766164	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgttttctgtgcgatgctgAtatcgatgagctctgacagg	7	13	12	9	3	2	3	0	3	2	0	3	5	2	3	1	1	3	3	1	1	1	3			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr12:121766164A>G	ENST00000261819.3	-	10	1380	c.1259T>C	c.(1258-1260)aTc>aCc	p.I420T	ANAPC5_ENST00000535482.1_Missense_Mutation_p.I86T|ANAPC5_ENST00000441917.2_Missense_Mutation_p.I308T|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000541887.1_Missense_Mutation_p.I407T|ANAPC5_ENST00000344395.4_Missense_Mutation_p.I308T	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	420					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGCGATGCTGATATCGATGAG	0.547													11	36					0	0	1	0	0	G	121766164	A	G	121766164	3	3	121	1	0	0	0	0	1	0	0	0	601	333	12	3	1040	3	ANAPC5	12	121766164	Missense_Mutation	SNP	A	TCGA-G9-6339-01A-12D-A30X-08	25125072	121766164	12085731	27	6118											
DYNC1H1	1778	broad.mit.edu	37	chr14	102482730	102482730	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggtccctgtctggagacagCcggctaaaaatgagagcaga	12	7	13	9	1	1	3	0	1	1	3	2	5	2	3	2	3	2	2	2	3	3	1			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr14:102482730C>T	ENST00000360184.4	+	37	7682	c.7518C>T	c.(7516-7518)agC>agT	p.S2506S		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2506					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CTGGAGACAGCCGGCTAAAAA	0.418													4	56					0	0	1	0	0	T	102482730	C	T	102482730	2	4	121	1	0	0	0	0	0	0	0	1	4867	738	26	2		2	DYNC1H1	14	102482730	Silent	SNP	C	TCGA-G9-6339-01A-12D-A30X-08		102482730	4866810	28	6119											
USP3	9960	broad.mit.edu	37	chr15	63852135	63852135	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaacagcaggaaggcggAcataccacaccaggagccaa	17	1	12	11	1	0	0	0	0	0	0	0	4	0	4	3	5	4	1	3	5	5	1			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr15:63852135A>G	ENST00000268049.7	+	8	871	c.547A>G	c.(547-549)Aca>Gca	p.T183A	USP3_ENST00000559711.1_Missense_Mutation_p.T116A|USP3-AS1_ENST00000559357.1_RNA|USP3-AS1_ENST00000560350.1_RNA|USP3_ENST00000536001.1_Intron|USP3_ENST00000380324.3_Missense_Mutation_p.T205A|USP3_ENST00000558285.1_Missense_Mutation_p.T188A|USP3-AS1_ENST00000559861.1_RNA|USP3_ENST00000540797.1_Missense_Mutation_p.T161A|USP3_ENST00000539772.1_Intron			Q9Y6I4	UBP3_HUMAN	ubiquitin specific peptidase 3	205					DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process	nuclear chromatin	histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			endometrium(3)|large_intestine(7)|lung(4)	14				GBM - Glioblastoma multiforme(80;0.0187)		AGGAAGGCGGACATACCACAC	0.413													5	22					0	0	1	0	0	G	63852135	A	G	63852135	3	3	121	1	0	0	0	0	1	0	0	0	17120	275	10	3	639	3	USP3	15	63852135	Missense_Mutation	SNP	A	TCGA-G9-6339-01A-12D-A30X-08		63852135	38679257	29	6120											
PDPK1	5170	broad.mit.edu	37	chr16	2636776	2636776	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgggcctgccccagaggtcaGgcagcaacatagagcagtac	11	4	13	13	1	1	2	1	0	0	2	1	2	1	2	3	3	5	4	3	3	3	2			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr16:2636776G>A	ENST00000342085.4	+	11	1374	c.1225G>A	c.(1225-1227)Ggc>Agc	p.G409S	PDPK1_ENST00000268673.7_Missense_Mutation_p.G282S|PDPK1_ENST00000441549.3_Missense_Mutation_p.G409S|PDPK1_ENST00000389224.3_Missense_Mutation_p.G382S|PDPK1_ENST00000354836.5_Missense_Mutation_p.G385S	NM_002613.4	NP_002604.1	O15530	PDPK1_HUMAN	3-phosphoinositide dependent protein kinase-1	409					actin cytoskeleton organization|activation of protein kinase B activity|insulin receptor signaling pathway|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|peptidyl-threonine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|synaptic transmission|T cell costimulation|T cell receptor signaling pathway	cytosol|nucleoplasm|plasma membrane	3-phosphoinositide-dependent protein kinase activity|ATP binding			central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7		Ovarian(90;0.17)			Celecoxib(DB00482)	CCAGAGGTCAGGCAGCAACAT	0.527													36	111					0	0	1	0	0	A	2636776	G	A	2636776	3	1	121	1	0	0	0	0	1	0	0	0	11734	1000	35	2	1267	2	PDPK1	16	2636776	Missense_Mutation	SNP	G	TCGA-G9-6339-01A-12D-A30X-08		2636776	87717977	30	6121											
ITGAX	3687	broad.mit.edu	37	chr16	31372440	31372440	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaattaaatgacattgcatcGaagccctcccaggaacacat	15	8	7	11	1	0	1	0	1	0	0	2	4	1	2	2	1	3	1	2	1	5	2			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr16:31372440G>A	ENST00000268296.4	+	9	1039	c.918G>A	c.(916-918)tcG>tcA	p.S306S	ITGAX_ENST00000562522.1_Silent_p.S306S	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	306	VWFA.				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						ACATTGCATCGAAGCCCTCCC	0.363													30	104					0	0	1	0	0	A	31372440	G	A	31372440	2	1	121	1	0	0	0	0	0	0	0	1	7933	1045	37	1		1	ITGAX	16	31372440	Silent	SNP	G	TCGA-G9-6339-01A-12D-A30X-08	28735664	31372440	58982313	31	6122											
TOX3	27324	broad.mit.edu	37	chr16	52484190	52484190	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taaggcagttctaacttactCtgttggcttcatcagcatcc	9	14	7	11	0	4	0	2	0	2	0	5	0	5	0	1	2	3	5	1	2	3	6			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr16:52484190C>T	ENST00000219746.9	-	4	961	c.678_splice	c.e4+1	p.R226_splice	TOX3_ENST00000407228.3_Splice_Site_p.R221_splice	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	226					apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						CTAACTTACTCTGTTGGCTTC	0.463													13	41					0	0	1	0	0	T	52484190	C	T	52484190	5	4	121	1	0	0	0	0	0	0	1	0	16440	927	32	2	1069	2	TOX3	16	52484190	Splice_Site	SNP	C	TCGA-G9-6339-01A-12D-A30X-08	21111750	52484190	37870563	32	6123											
NOL4	8715	broad.mit.edu	37	chr18	31802972	31802972	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accgtggtcttgacaggcacGtagagcacttgcttggcgcc	7	9	13	12	3	1	2	0	1	1	1	1	2	1	2	2	3	2	4	2	3	1	4			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr18:31802972G>T	ENST00000261592.5	-	1	543	c.246C>A	c.(244-246)taC>taA	p.Y82*	NOL4_ENST00000269185.4_5'UTR|RP11-379L18.1_ENST00000587528.1_RNA|NOL4_ENST00000589544.1_Nonsense_Mutation_p.Y82*	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	82						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TGACAGGCACGTAGAGCACTT	0.627													9	38					7.48243e-07	7.48243e-07	1	1	0	T	31802972	G	T	31802972	4	4	121	1	0	0	0	0	0	1	0	0	10571	1140	40	4	1714	4	NOL4	18	31802972	Nonsense_Mutation	SNP	G	TCGA-G9-6339-01A-12D-A30X-08		31802972	46274276	33	6124											
ILVBL	10994	broad.mit.edu	37	chr19	15234004	15234004	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agcattcttcaccgcagtcaCcgtgttggtgaggccagggc	7	9	13	12	2	3	1	2	1	1	0	3	1	3	1	3	3	1	3	3	3	0	3			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr19:15234004C>A	ENST00000263383.3	-	4	527	c.388G>T	c.(388-390)Gtg>Ttg	p.V130L	ILVBL_ENST00000534378.1_Missense_Mutation_p.V23L|ILVBL_ENST00000531635.1_5'UTR	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	130						integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						ACCGCAGTCACCGTGTTGGTG	0.627													25	103					7.38237e-10	7.87453e-10	1	1	0	A	15234004	C	A	15234004	3	1	121	1	0	0	0	0	1	0	0	0	7759	507	18	4	1562	4	ILVBL	19	15234004	Missense_Mutation	SNP	C	TCGA-G9-6339-01A-12D-A30X-08		15234004	43894979	34	6125											
USHBP1	83878	broad.mit.edu	37	chr19	17370705	17370705	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gattgaacttctcgcactcaCctgagtctcccagggttccc	7	11	8	15	1	3	2	1	2	2	0	6	3	4	2	3	1	1	2	3	1	1	3			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr19:17370705C>T	ENST00000252597.3	-	5	942		c.e5+1		USHBP1_ENST00000431146.2_Splice_Site	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1								PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						CTCGCACTCACCTGAGTCTCC	0.542													11	49					0	0	1	0	0	T	17370705	C	T	17370705	5	4	121	1	0	0	0	0	0	0	1	0	17097	521	18	2	1378	2	USHBP1	19	17370705	Splice_Site	SNP	C	TCGA-G9-6339-01A-12D-A30X-08	2136701	17370705	41758278	35	6126											
ZNF101	94039	broad.mit.edu	37	chr19	19790542	19790542	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcatgttagaactcacacTggagaaaaaccttacaaatg	17	10	6	8	0	2	2	2	0	0	2	2	3	2	2	1	1	3	1	1	1	6	3			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr19:19790542T>C	ENST00000592502.1	+	4	854	c.744T>C	c.(742-744)acT>acC	p.T248T	ZNF101_ENST00000444249.2_3'UTR|ZNF101_ENST00000415784.2_Silent_p.T128T			Q8IZC7	ZN101_HUMAN	zinc finger protein 101	248					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						GAACTCACACTGGAGAAAAAC	0.383													6	23					0	0	1	0	0	C	19790542	T	C	19790542	2	2	121	1	0	0	0	0	0	0	0	1	17772	1567	55	3		3	ZNF101	19	19790542	Silent	SNP	T	TCGA-G9-6339-01A-12D-A30X-08	2419837	19790542	39338441	36	6127											
ZNF626	199777	broad.mit.edu	37	chr19	20828569	20828569	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacaggtgatcaggtctggCttagaaacagtaatacctgt	13	10	11	7	0	2	3	1	1	1	2	2	3	2	3	1	3	2	2	1	3	4	3			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr19:20828569C>A	ENST00000601440.1	-	3	293	c.147G>T	c.(145-147)aaG>aaT	p.K49N	CTC-513N18.7_ENST00000595094.1_lincRNA|ZNF626_ENST00000291750.6_Missense_Mutation_p.K49N	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	49	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						TCAGGTCTGGCTTAGAAACAG	0.378													10	37					1.5842e-08	1.60935e-08	1	1	0	A	20828569	C	A	20828569	3	1	121	1	0	0	0	0	1	0	0	0	18107	796	28	4	1504	4	ZNF626	19	20828569	Missense_Mutation	SNP	C	TCGA-G9-6339-01A-12D-A30X-08	1038027	20828569	38300414	37	6128											
FCGBP	8857	broad.mit.edu	37	chr19	40374061	40374061	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acgtgcactgctgccgacagTtgtcaatgaggactgtctgc	8	10	12	11	2	2	1	1	1	1	0	2	3	2	2	1	1	4	3	1	1	1	1			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr19:40374061T>C	ENST00000221347.6	-	26	12024	c.12017A>G	c.(12016-12018)aAc>aGc	p.N4006S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4006	Cys-rich.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTGCCGACAGTTGTCAATGAG	0.632													4	11					0	0	1	0	0	C	40374061	T	C	40374061	3	2	121	1	0	0	0	0	1	0	0	0	5811	1725	60	3	4244	3	FCGBP	19	40374061	Missense_Mutation	SNP	T	TCGA-G9-6339-01A-12D-A30X-08	19545492	40374061	18754922	38	6129											
FUT2	2524	broad.mit.edu	37	chr19	49206416	49206416	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggggatgtggacgatcaatgCaataggccgcctggggaacc	10	6	16	9	2	1	0	1	0	0	0	1	4	1	3	3	6	2	1	3	6	4	1			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr19:49206416C>T	ENST00000425340.2	+	2	320	c.203C>T	c.(202-204)gCa>gTa	p.A68V	FUT2_ENST00000391876.4_Missense_Mutation_p.A68V	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN	fucosyltransferase 2 (secretor status included)	68					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	galactoside 2-alpha-L-fucosyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		ACGATCAATGCAATAGGCCGC	0.607													9	43					0	0	1	0	0	T	49206416	C	T	49206416	3	4	121	1	0	0	0	0	1	0	0	0	6139	710	25	2	205	2	FUT2	19	49206416	Missense_Mutation	SNP	C	TCGA-G9-6339-01A-12D-A30X-08	8832355	49206416	9922567	39	6130											
CDH4	1002	broad.mit.edu	37	chr20	60448832	60448832	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatgctgacgacagcaccaCggccaacgggatggtgcggt	9	5	15	12	5	0	1	0	1	0	0	0	4	0	2	2	4	4	2	2	4	1	0			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr20:60448832C>T	ENST00000360469.5	+	7	1014	c.926C>T	c.(925-927)aCg>aTg	p.T309M	CDH4_ENST00000543233.1_Missense_Mutation_p.T235M	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	309	Cadherin 2.				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)			GACAGCACCACGGCCAACGGG	0.602													26	73					0	0	1	0	0	T	60448832	C	T	60448832	3	4	121	1	0	0	0	0	1	0	0	0	3134	536	19	1	952	1	CDH4	20	60448832	Missense_Mutation	SNP	C	TCGA-G9-6339-01A-12D-A30X-08		60448832	2576688	40	6131											
CACNA1I	8911	broad.mit.edu	37	chr22	40066135	40066135	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcaacatgtttgtgggtgtCgtggtggagaacttccacaa	9	12	12	8	1	1	1	1	0	0	1	3	2	2	1	1	3	2	1	1	3	3	2			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chr22:40066135C>T	ENST00000336649.4	+	28	4305	c.4305C>T	c.(4303-4305)gtC>gtT	p.V1435V	CACNA1I_ENST00000402142.3_Silent_p.V1429V|CACNA1I_ENST00000400164.3_Silent_p.V1394V|CACNA1I_ENST00000401624.1_Silent_p.V1429V|CACNA1I_ENST00000407673.1_Silent_p.V1394V|CACNA1I_ENST00000404898.1_Silent_p.V1394V			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1429					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	TTGTGGGTGTCGTGGTGGAGA	0.602													4	265					0	0	1	0	0	T	40066135	C	T	40066135	2	4	121	1	0	0	0	0	0	0	0	1	2564	871	31	1		1	CACNA1I	22	40066135	Silent	SNP	C	TCGA-G9-6339-01A-12D-A30X-08		40066135	11238431	41	6132											
IL1RAPL2	26280	broad.mit.edu	37	chrX	104999297	104999297	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtcctggaaaaacactatgGatataaactcttcatcccag	14	11	6	10	0	2	0	1	0	1	0	4	2	4	2	2	2	2	0	2	2	6	4			TCGA-G9-6339-01A-12D-A30X-08	TCGA-G9-6339-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e297e93-6cfe-43b1-aeb2-1151c6fe2a8a	23a6d650-d249-4674-a652-4669df3e3d64	g.chrX:104999297G>T	ENST00000372582.1	+	10	2075	c.1319G>T	c.(1318-1320)gGa>gTa	p.G440V	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.G440V|IL1RAPL2_ENST00000538500.1_Missense_Mutation_p.G45V|IL1RAPL2_ENST00000485671.1_3'UTR	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	440	TIR.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AAACACTATGGATATAAACTC	0.368													33	40					1.36161e-19	1.47701e-19	1	1	0	T	104999297	G	T	104999297	3	4	121	1	0	0	0	0	1	0	0	0	7706	1174	41	4	1353	4	IL1RAPL2	23	104999297	Missense_Mutation	SNP	G	TCGA-G9-6339-01A-12D-A30X-08		104999297	50271263	42	6133											
PRKAA2	5563	broad.mit.edu	37	chr1	57161759	57161759	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atatcccagaatatctcaatCgttctgtcgccactctcctg	9	13	5	14	2	3	1	1	0	3	1	8	1	4	1	3	0	0	1	3	0	4	3	rs141766544		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:57161759C>T	ENST00000371244.4	+	6	781	c.715C>T	c.(715-717)Cgt>Tgt	p.R239C		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	239	Protein kinase.				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding	p.R239C(1)		breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						ATATCTCAATCGTTCTGTCGC	0.428													10	337					0	0	0.000978159	0	0	T	57161759	C	T	57161759	3	4	122	1	0	0	0	0	1	0	0	0	12546	884	31	1	737	1	PRKAA2	1	57161759	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08		57161759	192088862	1	6134											
ASTN1	460	broad.mit.edu	37	chr1	176913135	176913135	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcagttgctggtctaaacCacgagcaaagttgttttgcc	9	12	11	9	1	1	0	0	0	1	0	1	1	1	0	2	2	4	6	2	2	3	5			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:176913135C>T	ENST00000367654.2	-	14	2306	c.2293G>A	c.(2293-2295)Ggt>Agt	p.G765S	ASTN1_ENST00000367657.3_Missense_Mutation_p.G757S|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.G757S|ASTN1_ENST00000424564.2_Missense_Mutation_p.G757S			O14525	ASTN1_HUMAN	astrotactin 1	765					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TGGTCTAAACCACGAGCAAAG	0.483													17	59					0	0	0.00152264	0	0	T	176913135	C	T	176913135	3	4	122	1	0	0	0	0	1	0	0	0	1063	594	21	2	1659	2	ASTN1	1	176913135	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08	119751376	176913135	72337486	2	6135											
HMCN1	83872	broad.mit.edu	37	chr1	185931777	185931777	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accgttaacgatatgtttatCgtgggttcacacaggtactg	10	13	10	8	3	1	0	1	0	0	0	2	1	1	0	1	2	2	4	1	2	4	6			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:185931777C>T	ENST00000271588.4	+	12	2185	c.1956C>T	c.(1954-1956)atC>atT	p.I652I	HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Silent_p.I652I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	652	Ig-like C2-type 3.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATATGTTTATCGTGGGTTCAC	0.408													21	95					0	0	0.00188189	0	0	T	185931777	C	T	185931777	2	4	122	1	0	0	0	0	0	0	0	1	7261	874	31	1		1	HMCN1	1	185931777	Silent	SNP	C	TCGA-G9-6342-01A-11D-1961-08	9018642	185931777	63318844	3	6136											
KCNT2	343450	broad.mit.edu	37	chr1	196254844	196254844	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctcccagcagcaaaaggCagtcgaaacataaaggccaa	17	3	8	13	1	0	0	0	0	0	0	2	1	1	0	3	2	3	3	3	2	6	1			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:196254844C>T	ENST00000367433.5	-	22	2669	c.2568G>A	c.(2566-2568)ctG>ctA	p.L856L	KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Silent_p.L880L|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000367431.4_Silent_p.L806L			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	880						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CAGCAAAAGGCAGTCGAAACA	0.373													15	44					0	0	0.000308642	0	0	T	196254844	C	T	196254844	2	4	122	1	0	0	0	0	0	0	0	1	8136	697	25	2		2	KCNT2	1	196254844	Silent	SNP	C	TCGA-G9-6342-01A-11D-1961-08	10323067	196254844	52995777	4	6137											
DSTYK	25778	broad.mit.edu	37	chr1	205132935	205132935	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catcgttccagggttccgacGaagctttccctcaggtaatc	8	11	9	13	3	1	0	1	0	0	0	6	2	4	0	3	2	1	4	3	2	2	4			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:205132935G>A	ENST00000367162.3	-	4	1503	c.1473C>T	c.(1471-1473)ttC>ttT	p.F491F	DSTYK_ENST00000367161.3_Silent_p.F491F|DSTYK_ENST00000367160.4_Intron	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	491						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						GGGTTCCGACGAAGCTTTCCC	0.473													12	52					0	0	0.000978159	0	0	A	205132935	G	A	205132935	2	1	122	1	0	0	0	0	0	0	0	1	4811	1049	37	1		1	DSTYK	1	205132935	Silent	SNP	G	TCGA-G9-6342-01A-11D-1961-08	8878091	205132935	44117686	5	6138											
ERO1LB	56605	broad.mit.edu	37	chr1	236445067	236445067	+	Frame_Shift_Del	DEL	C	C	-																															cctgcccagcgcctgcccggCggaccccttggctcatgctg																										TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr1:236445067delC	ENST00000354619.5	-	1	218	c.17delG	c.(16-18)ccfs	p.R7fs	ERO1LB_ENST00000327333.8_Frame_Shift_Del_p.R7fs	NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)	7					electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding			NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			GCCTGCCCGGCGGACCCCTTG	0.736													2	4	---	---	---	---						-	236445067	C	-	236445067	7	5	122	1	0	1	0	1	0	0	0	0	5268	768	27	0	1450	0	ERO1LB	1	236445067	Frame_Shift_Del	DEL	C	TCGA-G9-6342-01A-11D-1961-08	31312132	236445067	12805554	6	6139											
BAZ2B	29994	broad.mit.edu	37	chr2	160193505	160193505	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttctgtaattgctgaatgCacagagctacctgtgcagca	11	12	9	9	0	1	2	0	1	1	1	1	2	1	2	1	0	6	6	1	0	3	4			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr2:160193505C>T	ENST00000392783.2	-	33	6239	c.5744G>A	c.(5743-5745)tGc>tAc	p.C1915Y	BAZ2B_ENST00000343439.5_Missense_Mutation_p.C1815Y|BAZ2B_ENST00000392782.1_Missense_Mutation_p.C1879Y|BAZ2B_ENST00000355831.2_Missense_Mutation_p.C1881Y	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1915					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TTGCTGAATGCACAGAGCTAC	0.363													9	83					0	0	0.000274275	0	0	T	160193505	C	T	160193505	3	4	122	1	0	0	0	0	1	0	0	0	1330	710	25	2	782	2	BAZ2B	2	160193505	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08		160193505	83005868	7	6140											
HSPBAP1	79663	broad.mit.edu	37	chr3	122459555	122459555	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagttctggctacctgtttgGcccacctccatgtggttgca	6	13	10	12	0	1	0	0	0	1	0	2	0	2	0	4	3	2	5	4	3	2	4			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:122459555G>A	ENST00000306103.2	-	8	1247	c.1104C>T	c.(1102-1104)ggC>ggT	p.G368G	HSPBAP1_ENST00000383659.1_3'UTR	NM_024610.5	NP_078886.2	Q96EW2	HBAP1_HUMAN	HSPB (heat shock 27kDa) associated protein 1	368						cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		TACCTGTTTGGCCCACCTCCA	0.502													29	296					0	0	0.00127121	0	0	A	122459555	G	A	122459555	2	1	122	1	0	0	0	0	0	0	0	1	7469	1190	42	2		2	HSPBAP1	3	122459555	Silent	SNP	G	TCGA-G9-6342-01A-11D-1961-08		122459555	75562875	8	6141											
KCNAB1	7881	broad.mit.edu	37	chr3	156234121	156234121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctcaggaaaatacggaaacGgggtgcctgaaagttccagg	13	7	13	8	2	1	1	1	1	1	0	3	3	2	3	2	5	3	1	2	5	5	2			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:156234121G>A	ENST00000302490.8	+	11	1745	c.874G>A	c.(874-876)Ggg>Agg	p.G292R	KCNAB1_ENST00000471742.1_Missense_Mutation_p.G299R|KCNAB1_ENST00000389634.5_Missense_Mutation_p.G263R|KCNAB1_ENST00000389636.5_Missense_Mutation_p.G281R|KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000490337.1_Missense_Mutation_p.G310R	NM_172159.3	NP_751891.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	310						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			ATACGGAAACGGGGTGCCTGA	0.448													5	96					0	0	0.00116845	0	0	A	156234121	G	A	156234121	3	1	122	1	0	0	0	0	1	0	0	0	8053	1116	39	1	1441	1	KCNAB1	3	156234121	Missense_Mutation	SNP	G	TCGA-G9-6342-01A-11D-1961-08	33774566	156234121	41788309	9	6142											
PAK2	5062	broad.mit.edu	37	chr3	196509570	196509570	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagcacctcctgtgcgaaTgagcagcaccatctttagca	10	9	8	14	1	1	1	0	1	1	0	3	2	3	1	4	0	5	4	4	0	2	2			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr3:196509570T>A	ENST00000327134.3	+	2	375	c.53T>A	c.(52-54)aTg>aAg	p.M18K		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	18					axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		CCTGTGCGAATGAGCAGCACC	0.443													10	216					0	0	0.000978159	0	0	A	196509570	T	A	196509570	3	1	122	1	0	0	0	0	1	0	0	0	11448	1464	51	5	55	5	PAK2	3	196509570	Missense_Mutation	SNP	T	TCGA-G9-6342-01A-11D-1961-08	40275449	196509570	1512860	10	6143											
ZNF518B	85460	broad.mit.edu	37	chr4	10445720	10445720	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccatctgcaaagtgtggatAtatttgttgatgagtaagct	11	14	11	5	0	1	2	0	2	1	0	1	3	1	3	1	1	2	4	1	1	4	5			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr4:10445720A>G	ENST00000326756.3	-	3	2671	c.2233T>C	c.(2233-2235)Tat>Cat	p.Y745H		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	745					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						AAGTGTGGATATATTTGTTGA	0.468													27	112					0	0	0.000720815	0	0	G	10445720	A	G	10445720	3	3	122	1	0	0	0	0	1	0	0	0	18020	449	16	3	995	3	ZNF518B	4	10445720	Missense_Mutation	SNP	A	TCGA-G9-6342-01A-11D-1961-08		10445720	180708556	11	6144											
UGT2B17	7367	broad.mit.edu	37	chr4	69416515	69416515	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caatgttatcatgttgatccGcaaacaagggaatgcccacc	13	9	8	11	1	1	1	1	1	0	0	2	2	2	2	3	1	2	3	3	1	5	2			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr4:69416515G>C	ENST00000317746.2	-	5	1235	c.1193C>G	c.(1192-1194)gCg>gGg	p.A398G		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	398					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						ATGTTGATCCGCAAACAAGGG	0.463													56	62					0	0	0.000781405	0	0	C	69416515	G	C	69416515	3	2	122	1	0	0	0	0	1	0	0	0	17019	1087	38	4	407	4	UGT2B17	4	69416515	Missense_Mutation	SNP	G	TCGA-G9-6342-01A-11D-1961-08	58970795	69416515	121737761	12	6145											
ANK2	287	broad.mit.edu	37	chr4	114275162	114275162	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagtcaaaggcaaggaggaCgtgccaaaaaagaccaccca	18	2	11	10	1	1	2	1	0	0	2	1	4	1	4	3	3	1	1	3	3	5	0			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr4:114275162C>T	ENST00000357077.4	+	38	5441	c.5388C>T	c.(5386-5388)gaC>gaT	p.D1796D	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Silent_p.D1763D|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1763	Repeat-rich region.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GCAAGGAGGACGTGCCAAAAA	0.517													22	130					0	0	0.00188189	0	0	T	114275162	C	T	114275162	2	4	122	1	0	0	0	0	0	0	0	1	617	535	19	1		1	ANK2	4	114275162	Silent	SNP	C	TCGA-G9-6342-01A-11D-1961-08	44858647	114275162	76879114	13	6146											
INTU	27152	broad.mit.edu	37	chr4	128626838	128626838	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgctgcctttagcagcaaaAcaaagaattggtcagttgat	13	11	9	8	0	1	2	1	1	0	1	1	2	1	2	1	1	5	4	1	1	5	4			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr4:128626838A>G	ENST00000335251.5	+	11	1762	c.1659A>G	c.(1657-1659)aaA>aaG	p.K553K	INTU_ENST00000512995.1_3'UTR	NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein	553										breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						TAGCAGCAAAACAAAGAATTG	0.438													25	127					0	0	0.00278032	0	0	G	128626838	A	G	128626838	2	3	122	1	0	0	0	0	0	0	0	1	7830	40	2	3		3	INTU	4	128626838	Silent	SNP	A	TCGA-G9-6342-01A-11D-1961-08	14351676	128626838	62527438	14	6147											
C9	735	broad.mit.edu	37	chr5	39311238	39311238	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gagctctatttctaggcataCctttccgcttcatggaagct	8	14	8	11	1	3	0	1	0	2	0	4	2	4	1	2	2	3	4	2	2	4	6			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr5:39311238C>T	ENST00000263408.4	-	7	1207		c.e7+1			NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9						complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TCTAGGCATACCTTTCCGCTT	0.368													17	45					0	0	0.000422831	0	0	T	39311238	C	T	39311238	5	4	122	1	0	0	0	0	0	0	1	0	2461	521	18	2	587	2	C9	5	39311238	Splice_Site	SNP	C	TCGA-G9-6342-01A-11D-1961-08		39311238	141604022	15	6148											
BAI3	577	broad.mit.edu	37	chr6	70049277	70049277	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttctggctttgacgtggAtgtctgcggttctggccatg	3	14	13	11	2	3	1	0	1	3	0	3	2	3	2	2	4	1	2	2	4	0	3			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:70049277A>T	ENST00000370598.1	+	26	4161	c.3340A>T	c.(3340-3342)Atg>Ttg	p.M1114L	BAI3_ENST00000546190.1_Missense_Mutation_p.M78L|BAI3_ENST00000238918.8_Missense_Mutation_p.M320L	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1114					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TTTGACGTGGATGTCTGCGGT	0.453													44	171					0	0	0.000680045	0	0	T	70049277	A	T	70049277	3	4	122	1	0	0	0	0	1	0	0	0	1298	333	12	5	3434	5	BAI3	6	70049277	Missense_Mutation	SNP	A	TCGA-G9-6342-01A-11D-1961-08		70049277	101065790	16	6149											
TAAR8	83551	broad.mit.edu	37	chr6	132874314	132874314	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctggattctgcctctcacGtacagcggtgctgtgttcta	5	14	10	12	2	3	0	1	0	3	0	5	1	4	1	2	2	4	3	2	2	2	4			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:132874314G>A	ENST00000275200.1	+	1	483	c.483G>A	c.(481-483)acG>acA	p.T161T		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	161						plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		TGCCTCTCACGTACAGCGGTG	0.488													10	341					0	0	0.000673444	0	0	A	132874314	G	A	132874314	2	1	122	1	0	0	0	0	0	0	0	1	15550	1132	40	1		1	TAAR8	6	132874314	Silent	SNP	G	TCGA-G9-6342-01A-11D-1961-08	62825037	132874314	38240753	17	6150											
UTRN	7402	broad.mit.edu	37	chr6	145093097	145093097	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaatgaccgaactctttcaAtcccttggtaagtgttatta	13	14	6	8	1	2	1	1	1	1	0	3	2	3	1	2	1	1	2	2	1	7	5			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr6:145093097A>G	ENST00000367545.3	+	58	8550	c.8550A>G	c.(8548-8550)caA>caG	p.Q2850Q	UTRN_ENST00000367526.4_Silent_p.Q405Q	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2850	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AACTCTTTCAATCCCTTGGTA	0.269													4	85					0	0	0.00116845	0	0	G	145093097	A	G	145093097	2	3	122	1	0	0	0	0	0	0	0	1	17163	98	4	3		3	UTRN	6	145093097	Silent	SNP	A	TCGA-G9-6342-01A-11D-1961-08	12218783	145093097	26021970	18	6151											
FOXP2	93986	broad.mit.edu	37	chr7	114269973	114269973	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcaacaacagcagcagcaAcaacaacaacaacagcagca	21	0	6	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	6	0	0	7	0	rs149757187		TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr7:114269973A>G	ENST00000393500.3	+	11	1105	c.285A>G	c.(283-285)caA>caG	p.Q95Q	FOXP2_ENST00000350908.4_Silent_p.Q170Q|FOXP2_ENST00000378237.3_Silent_p.Q170Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000393489.3_Silent_p.Q78Q|FOXP2_ENST00000393494.2_Silent_p.Q170Q|FOXP2_ENST00000393498.2_Silent_p.Q150Q|FOXP2_ENST00000393491.3_Silent_p.Q78Q			O15409	FOXP2_HUMAN	forkhead box P2	170	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.Q195Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcagcagcaacaacaacaac	0.502													3	39					0	0	6.4e-05	0	0	G	114269973	A	G	114269973	2	3	122	1	0	0	0	0	0	0	0	1	6061	40	2	3		3	FOXP2	7	114269973	Silent	SNP	A	TCGA-G9-6342-01A-11D-1961-08		114269973	44868690	19	6152											
PREX2	80243	broad.mit.edu	37	chr8	68965472	68965472	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctattttgaaagaaagagaaCggcggaaaggtgggtgtatg	14	9	15	3	2	0	3	0	1	0	2	0	5	0	4	0	4	1	1	0	4	6	4			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr8:68965472C>T	ENST00000288368.4	+	9	1361	c.1084C>T	c.(1084-1086)Cgg>Tgg	p.R362W	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	362					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AGAAAGAGAACGGCGGAAAGG	0.383													7	59					0	0	0.000157383	0	0	T	68965472	C	T	68965472	3	4	122	1	0	0	0	0	1	0	0	0	12529	527	19	1	1118	1	PREX2	8	68965472	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08		68965472	77398550	20	6153											
KAT5	10524	broad.mit.edu	37	chr11	65484372	65484372	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctccaggagaaagaatcaAcggaagactacaatgtggcc	15	7	10	9	1	2	3	1	0	1	3	3	5	2	4	2	3	2	0	2	3	6	2			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr11:65484372A>G	ENST00000341318.4	+	10	1417	c.1183A>G	c.(1183-1185)Acg>Gcg	p.T395A	KAT5_ENST00000530446.1_Missense_Mutation_p.T343A|KAT5_ENST00000534650.1_Missense_Mutation_p.T151A|KAT5_ENST00000377046.3_Missense_Mutation_p.T362A|KAT5_ENST00000352980.4_Missense_Mutation_p.T310A	NM_182710.2	NP_874369.1	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5	362					androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						GAAAGAATCAACGGAAGACTA	0.592													22	104					0	0	0.00278032	0	0	G	65484372	A	G	65484372	3	3	122	1	0	0	0	0	1	0	0	0	8027	43	2	3	1221	3	KAT5	11	65484372	Missense_Mutation	SNP	A	TCGA-G9-6342-01A-11D-1961-08		65484372	69522144	21	6154											
METTL7A	25840	broad.mit.edu	37	chr12	51318927	51318927	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctggatatgcaaaaaatggTtcccctacttcttggtgagg	10	12	11	8	0	1	1	0	1	1	0	2	2	2	2	2	4	2	3	2	4	5	5			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr12:51318927T>C	ENST00000548553.1	+	2	1087	c.106T>C	c.(106-108)Ttc>Ctc	p.F36L	METTL7A_ENST00000332160.4_Missense_Mutation_p.F36L			Q9H8H3	MET7A_HUMAN	methyltransferase like 7A	36						endoplasmic reticulum|lipid particle|membrane	methyltransferase activity			endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	10						CAAAAAATGGTTCCCCTACTT	0.488													17	68					0	0	0.000566183	0	0	C	51318927	T	C	51318927	3	2	122	1	0	0	0	0	1	0	0	0	9555	1725	60	3	108	3	METTL7A	12	51318927	Missense_Mutation	SNP	T	TCGA-G9-6342-01A-11D-1961-08		51318927	82532968	22	6155											
BEST3	144453	broad.mit.edu	37	chr12	70091546	70091546	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaatccaaaaaaagttgcAtttgctactttactggagta	15	13	7	6	0	0	1	0	1	0	0	1	2	1	2	1	1	4	4	1	1	7	6			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr12:70091546A>T	ENST00000330891.5	-	2	259	c.33T>A	c.(31-33)aaT>aaA	p.N11K	BEST3_ENST00000476098.1_Intron|BEST3_ENST00000393365.1_5'UTR|BEST3_ENST00000331471.4_Missense_Mutation_p.N11K|BEST3_ENST00000553096.1_Intron|BEST3_ENST00000551160.1_Intron|BEST3_ENST00000266661.4_Intron|BEST3_ENST00000533674.1_Intron	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	11						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			AAAAAGTTGCATTTGCTACTT	0.353													28	110					0	0	0.001512	0	0	T	70091546	A	T	70091546	3	4	122	1	0	0	0	0	1	0	0	0	1404	214	8	5	2009	5	BEST3	12	70091546	Missense_Mutation	SNP	A	TCGA-G9-6342-01A-11D-1961-08	18772619	70091546	63760349	23	6156											
XPO6	23214	broad.mit.edu	37	chr16	28115941	28115941	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctggacactggccagcaCggtggacttgaagaagtacc	10	7	12	12	1	1	2	0	1	1	1	1	4	1	4	3	4	2	2	3	4	3	2			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr16:28115941C>T	ENST00000304658.5	-	21	3372	c.2872G>A	c.(2872-2874)Gtg>Atg	p.V958M	XPO6_ENST00000565698.1_Missense_Mutation_p.V944M	NM_015171.2	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	958					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						CTGGCCAGCACGGTGGACTTG	0.587													7	60					0	0	0.000157383	0	0	T	28115941	C	T	28115941	3	4	122	1	0	0	0	0	1	0	0	0	17508	536	19	1	521	1	XPO6	16	28115941	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08		28115941	62238812	24	6157											
GPS2	2874	broad.mit.edu	37	chr17	7217275	7217275	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctctgtcagctgccatgaGggtgcctgggcgattgtgtc	4	11	16	10	1	2	1	1	1	1	0	3	2	2	1	2	3	3	2	2	3	0	1			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr17:7217275G>C	ENST00000380728.2	-	6	730	c.430C>G	c.(430-432)Ctc>Gtc	p.L144V	RP11-542C16.2_ENST00000575474.1_3'UTR|GPS2_ENST00000391950.3_Missense_Mutation_p.L144V|GPS2_ENST00000389167.5_Missense_Mutation_p.L144V			Q13227	GPS2_HUMAN	G protein pathway suppressor 2	144					cell cycle|inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				GCTGCCATGAGGGTGCCTGGG	0.547													35	90					0	0	0.00111076	0	0	C	7217275	G	C	7217275	3	2	122	1	0	0	0	0	1	0	0	0	6774	1000	35	4	577	4	GPS2	17	7217275	Missense_Mutation	SNP	G	TCGA-G9-6342-01A-11D-1961-08		7217275	73977935	25	6158											
DUS3L	56931	broad.mit.edu	37	chr19	5790299	5790299	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cccggcaagtcttctcctgcCctttggcttccaggaattgg	5	12	10	14	1	2	0	0	0	2	0	4	1	3	1	4	4	1	2	4	4	2	4			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:5790299C>A	ENST00000309061.7	-	2	242	c.146G>T	c.(145-147)gGg>gTg	p.G49V	DUS3L_ENST00000320699.8_Missense_Mutation_p.G49V|DUS3L_ENST00000590681.1_5'UTR	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	49					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						CTTCTCCTGCCCTTTGGCTTC	0.547													11	64					4.84862e-15	7.64024e-14	0.000978159	1	0	A	5790299	C	A	5790299	3	1	122	1	0	0	0	0	1	0	0	0	4833	623	22	4	1854	4	DUS3L	19	5790299	Missense_Mutation	SNP	C	TCGA-G9-6342-01A-11D-1961-08		5790299	53338684	26	6159											
ICAM5	7087	broad.mit.edu	37	chr19	10404518	10404518	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaactcggggccgtcatcgAggggctgttgcgtgtggccc	5	8	17	11	4	1	1	1	0	0	1	3	2	1	1	2	5	2	2	2	5	1	1			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:10404518A>C	ENST00000221980.4	+	7	1673	c.1610A>C	c.(1609-1611)gAg>gCg	p.E537A		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	537	Ig-like C2-type 6.				cell-cell adhesion	integral to plasma membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GCCGTCATCGAGGGGCTGTTG	0.662													21	93					0	0	0.00047179	0	0	C	10404518	A	C	10404518	3	2	122	1	0	0	0	0	1	0	0	0	7527	304	11	5	1636	5	ICAM5	19	10404518	Missense_Mutation	SNP	A	TCGA-G9-6342-01A-11D-1961-08	4614219	10404518	48724465	27	6160											
ZNF442	79973	broad.mit.edu	37	chr19	12461101	12461101	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taccacattctttacattcaTagggtttctcaccagtatga	11	15	5	10	0	3	1	2	1	2	0	4	1	3	1	2	1	2	2	2	1	4	8			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chr19:12461101T>C	ENST00000242804.4	-	6	1880	c.1298A>G	c.(1297-1299)tAt>tGt	p.Y433C	ZNF442_ENST00000438182.1_Missense_Mutation_p.Y364C	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	433					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						TTTACATTCATAGGGTTTCTC	0.413													4	87					0	0	0.00116845	0	0	C	12461101	T	C	12461101	3	2	122	1	0	0	0	0	1	0	0	0	17972	1406	49	3	589	3	ZNF442	19	12461101	Missense_Mutation	SNP	T	TCGA-G9-6342-01A-11D-1961-08	2056583	12461101	46667882	28	6161											
GPR112	139378	broad.mit.edu	37	chrX	135405107	135405107	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcttatattactaataacGccctcctgggcagagaagac	12	11	7	11	1	1	2	0	0	1	2	3	3	2	2	2	1	2	1	2	1	6	5	rs142877839	by1000genomes	TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chrX:135405107G>A	ENST00000394143.1	+	5	532	c.241G>A	c.(241-243)Gcc>Acc	p.A81T	GPR112_ENST00000370652.1_Missense_Mutation_p.A81T|GPR112_ENST00000412101.1_Intron|GPR112_ENST00000394141.1_Intron|GPR112_ENST00000287534.4_Missense_Mutation_p.A18T	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	81					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TACTAATAACGCCCTCCTGGG	0.448													53	36					0	0	0.000781405	0	0	A	135405107	G	A	135405107	3	1	122	1	0	0	0	0	1	0	0	0	6669	1087	38	1	247	1	GPR112	23	135405107	Missense_Mutation	SNP	G	TCGA-G9-6342-01A-11D-1961-08		135405107	19865453	29	6162											
PDZD4	57595	broad.mit.edu	37	chrX	153073955	153073955	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccccggaggcgggggctGcgtctcagcacctggatcac	5	6	14	16	3	2	0	2	0	1	0	4	2	3	2	4	5	2	2	4	5	0	0			TCGA-G9-6342-01A-11D-1961-08	TCGA-G9-6342-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8e0af26e-760e-4842-8e0f-c073f3b67fc8	0156e439-a6b4-401c-bd6b-021244bea9dc	g.chrX:153073955G>A	ENST00000164640.4	-	2	347	c.156C>T	c.(154-156)cgC>cgT	p.R52R	PDZD4_ENST00000475140.1_5'UTR|PDZD4_ENST00000544474.1_Intron|PDZD4_ENST00000393758.2_5'UTR	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	52						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCGGGGGCTGCGTCTCAGCA	0.642													5	7					0	0	0.00116845	0	0	A	153073955	G	A	153073955	2	1	122	1	0	0	0	0	0	0	0	1	11750	1306	46	2		2	PDZD4	23	153073955	Silent	SNP	G	TCGA-G9-6342-01A-11D-1961-08	17668848	153073955	2196605	30	6163											
C1orf94	84970	broad.mit.edu	37	chr1	34684353	34684353	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcttccagtgggaatggcatAaacttttagatctcctcttc	9	15	7	10	0	3	1	0	0	3	1	6	2	4	2	2	2	1	1	2	2	4	5			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr1:34684353A>C	ENST00000488417.1	+	7	1908	c.1788A>C	c.(1786-1788)atA>atC	p.I596I	C1orf94_ENST00000373374.3_Silent_p.I406I	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	406							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				GGAATGGCATAAACTTTTAGA	0.502													9	86					0	0	0.008291	0	0	C	34684353	A	C	34684353	2	2	123	1	0	0	0	0	0	0	0	1	2085	352	13	5		5	C1orf94	1	34684353	Silent	SNP	A	TCGA-G9-6343-01A-21D-1961-08		34684353	214566268	1	6164											
GJB4	127534	broad.mit.edu	37	chr1	35226969	35226969	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtgtgctggtgtacgtggtGgcagcggaggaggtgtggga	5	9	22	5	3	0	0	0	0	0	0	0	3	0	3	0	7	3	3	0	7	1	1			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr1:35226969G>A	ENST00000339480.1	+	2	484	c.114G>A	c.(112-114)gtG>gtA	p.V38V		NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	38					cell communication	connexon complex|integral to membrane	gap junction channel activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				TGTACGTGGTGGCAGCGGAGG	0.582													6	47					0	0	0.00308	0	0	A	35226969	G	A	35226969	2	1	123	1	0	0	0	0	0	0	0	1	6452	1335	47	2		2	GJB4	1	35226969	Silent	SNP	G	TCGA-G9-6343-01A-21D-1961-08	542616	35226969	214023652	2	6165											
CHI3L1	1116	broad.mit.edu	37	chr1	203152888	203152888	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgacttgatgaaagtccggcGactctgggtgttggaggcta	8	11	15	7	2	1	3	0	3	1	0	2	5	2	4	1	4	0	2	1	4	2	3			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr1:203152888G>A	ENST00000255409.3	-	5	471	c.346C>T	c.(346-348)Cgc>Tgc	p.R116C		NM_001276.2	NP_001267.2	P36222	CH3L1_HUMAN	chitinase 3-like 1 (cartilage glycoprotein-39)	116					chitin catabolic process	extracellular space|proteinaceous extracellular matrix	cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						AAAGTCCGGCGACTCTGGGTG	0.552													5	91					0	0	0.000602	0	0	A	203152888	G	A	203152888	3	1	123	1	0	0	0	0	1	0	0	0	3362	1058	37	1	829	1	CHI3L1	1	203152888	Missense_Mutation	SNP	G	TCGA-G9-6343-01A-21D-1961-08	167925919	203152888	46097733	3	6166											
OR2B11	127623	broad.mit.edu	37	chr1	247615283	247615283	+	Translation_Start_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctatggttgtcacttttcAtgttgcggcattttctggca	6	17	10	8	1	3	0	2	0	1	0	3	0	3	0	0	3	2	5	0	3	1	7			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr1:247615283A>T	ENST00000318749.6	-	1	25	c.2T>A	c.(1-3)aTg>aAg	p.M1K		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GTCACTTTTCATGTTGCGGCA	0.473													8	45					0	0	0.004482	0	0	T	247615283	A	T	247615283	1	4	123	1	0	0	0	0	0	0	0	0	11036	231	8	5		5	OR2B11	1	247615283	Translation_Start_Site	SNP	A	TCGA-G9-6343-01A-21D-1961-08	44462395	247615283	1635338	4	6167											
NRXN1	9378	broad.mit.edu	37	chr2	50850692	50850692	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgctgctttgaatggggttTtgagacaagtcgtagcagaa	10	12	13	6	1	0	3	0	2	0	2	1	4	0	3	0	2	3	5	0	2	4	4			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr2:50850692T>C	ENST00000404971.1	-	7	2332	c.993A>G	c.(991-993)caA>caG	p.Q331Q	NRXN1_ENST00000402717.3_Silent_p.Q298Q|NRXN1_ENST00000406316.2_Silent_p.Q298Q|NRXN1_ENST00000405472.3_Silent_p.Q298Q|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Silent_p.Q298Q|NRXN1_ENST00000401669.2_Silent_p.Q298Q	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	298	Laminin G-like 2.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GAATGGGGTTTTGAGACAAGT	0.378													7	105					0	0	0.00308	0	0	C	50850692	T	C	50850692	2	2	123	1	0	0	0	0	0	0	0	1	10713	1838	64	3		3	NRXN1	2	50850692	Silent	SNP	T	TCGA-G9-6343-01A-21D-1961-08		50850692	192348681	5	6168											
SPRED2	200734	broad.mit.edu	37	chr2	65540895	65540895	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggcggatgcaagttctcaCggagtcgggcgcgtcctggc	5	7	16	13	6	1	0	1	0	1	0	4	2	2	2	2	5	1	2	2	5	1	1			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr2:65540895C>T	ENST00000356388.4	-	6	1186	c.997G>A	c.(997-999)Gtg>Atg	p.V333M	SPRED2_ENST00000443619.2_Missense_Mutation_p.V330M	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	333	SPR.				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						CAAGTTCTCACGGAGTCGGGC	0.637													6	157					0	0	0.001168	0	0	T	65540895	C	T	65540895	3	4	123	1	0	0	0	0	1	0	0	0	15149	536	19	1	263	1	SPRED2	2	65540895	Missense_Mutation	SNP	C	TCGA-G9-6343-01A-21D-1961-08	14690203	65540895	177658478	6	6169											
CCDC108	255101	broad.mit.edu	37	chr2	219892530	219892530	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcgcgtccagaccaccaTgatcttgcccttggtgtggt	5	12	10	14	2	1	2	0	1	1	1	3	2	2	2	5	2	1	0	5	2	0	3			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr2:219892530T>C	ENST00000341552.5	-	13	2136	c.2053A>G	c.(2053-2055)Atg>Gtg	p.M685V	CCDC108_ENST00000441968.1_Missense_Mutation_p.M685V|CCDC108_ENST00000453220.1_Missense_Mutation_p.M685V|CCDC108_ENST00000410037.1_Missense_Mutation_p.M620V|CCDC108_ENST00000409865.3_Missense_Mutation_p.M674V	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	685						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGACCACCATGATCTTGCCC	0.622													13	47					0	0	0.001368	0	0	C	219892530	T	C	219892530	3	2	123	1	0	0	0	0	1	0	0	0	2761	1464	51	3	3816	3	CCDC108	2	219892530	Missense_Mutation	SNP	T	TCGA-G9-6343-01A-21D-1961-08	154351635	219892530	23306843	7	6170											
PIK3CA	5290	broad.mit.edu	37	chr3	178952050	178952050	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gataaaactgagcaagaggcTttggagtatttcatgaaaca	16	10	10	5	0	1	3	1	2	0	1	1	5	1	4	0	2	3	3	0	2	5	4			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr3:178952050T>G	ENST00000263967.3	+	21	3262	c.3105T>G	c.(3103-3105)gcT>gcG	p.A1035A		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1035	PI3K/PI4K.		A -> V (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AGCAAGAGGCTTTGGAGTATT	0.393		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			4	40					0	0	0.000248	0	0	G	178952050	T	G	178952050	2	3	123	1	0	0	0	0	0	0	0	1	11961	1596	56	5		5	PIK3CA	3	178952050	Silent	SNP	T	TCGA-G9-6343-01A-21D-1961-08		178952050	19070380	8	6171											
GUF1	60558	broad.mit.edu	37	chr4	44692859	44692859	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagatgaatacactggaaaAataatgatgctttgcgaggt	15	10	10	6	1	0	3	0	2	0	1	0	5	0	4	1	2	3	1	1	2	5	3			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr4:44692859A>C	ENST00000281543.5	+	12	1655	c.1461A>C	c.(1459-1461)aaA>aaC	p.K487N	GUF1_ENST00000506793.1_3'UTR	NM_021927.2	NP_068746.2	Q8N442	GUF1_HUMAN	GUF1 GTPase homolog (S. cerevisiae)	487					translation	mitochondrial inner membrane	GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						ACACTGGAAAAATAATGATGC	0.318													8	87					0	0	0.006214	0	0	C	44692859	A	C	44692859	3	2	123	1	0	0	0	0	1	0	0	0	6940	11	1	5	1507	5	GUF1	4	44692859	Missense_Mutation	SNP	A	TCGA-G9-6343-01A-21D-1961-08		44692859	146461417	9	6172											
ADH1C	126	broad.mit.edu	37	chr4	100273819	100273819	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tatattttttgcttacttttCctgctgtgctcatattgatt	6	23	5	7	0	1	1	1	1	0	0	2	1	2	1	1	0	4	3	1	0	4	11			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr4:100273819C>T	ENST00000515683.1	-	0	365				ADH1C_ENST00000510055.1_RNA	NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	GCTTACTTTTCCTGCTGTGCT	0.313													12	86					0	0	0.001368	0	0	T	100273819	C	T	100273819	1	4	123	0	1	0	0	0	0	0	0	0	308	855	30	2		2	ADH1C	4	100273819	RNA	SNP	C	TCGA-G9-6343-01A-21D-1961-08	55580960	100273819	90880457	10	6173											
ETFDH	2110	broad.mit.edu	37	chr4	159601637	159601637	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agcatatcagtgctttcatgCcttaaaaattaagaaaaatt	17	13	5	6	0	2	1	2	0	0	1	2	1	2	1	1	0	3	2	1	0	7	5			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr4:159601637C>T	ENST00000511912.1	+	2	385	c.53C>T	c.(52-54)gCc>gTc	p.A18V	ETFDH_ENST00000307738.5_Intron	NM_004453.2	NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	18					fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		TGCTTTCATGCCTTAAAAATT	0.318													5	33					0	0	0.000602	0	0	T	159601637	C	T	159601637	3	4	123	1	0	0	0	0	1	0	0	0	5299	739	26	2	59	2	ETFDH	4	159601637	Missense_Mutation	SNP	C	TCGA-G9-6343-01A-21D-1961-08	59327818	159601637	31552639	11	6174											
APBB3	10307	broad.mit.edu	37	chr5	139940031	139940031	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtcgcggccaacaccaataAatgtcacaaggcgcacaggg	13	4	12	12	3	1	0	1	0	0	0	2	0	1	0	2	4	1	1	2	4	5	1			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr5:139940031A>C	ENST00000357560.4	-	12	1534	c.1091T>G	c.(1090-1092)tTt>tGt	p.F364C	APBB3_ENST00000412920.3_Missense_Mutation_p.F362C|APBB3_ENST00000358580.5_Missense_Mutation_p.I325M|APBB3_ENST00000356738.2_Missense_Mutation_p.F369C|APBB3_ENST00000511201.2_Missense_Mutation_p.I323M|APBB3_ENST00000354402.5_Missense_Mutation_p.F371C|APBB3_ENST00000508496.2_Missense_Mutation_p.F141C	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3	364	PID 2.					actin cytoskeleton|cytoplasm				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACACCAATAAATGTCACAAG	0.632													4	41					0	0	0.000248	0	0	C	139940031	A	C	139940031	3	2	123	1	0	0	0	0	1	0	0	0	758	14	1	5	377	5	APBB3	5	139940031	Missense_Mutation	SNP	A	TCGA-G9-6343-01A-21D-1961-08		139940031	40975229	12	6175											
PPP1R14C	81706	broad.mit.edu	37	chr6	150569956	150569956	+	Nonstop_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcagaagaagagtgtatgAttctggaacagggtgaaact	14	8	13	6	1	1	5	0	2	1	3	1	6	1	6	1	2	2	2	1	2	5	2			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr6:150569956A>C	ENST00000361131.4	+	4	615	c.498A>C	c.(496-498)tgA>tgC	p.*166C		NM_030949.2	NP_112211.1	Q8TAE6	PP14C_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14C	0					regulation of phosphorylation	cytoplasm|membrane				endometrium(1)|large_intestine(1)|prostate(1)	3		Ovarian(120;0.0284)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;9.14e-12)		AGAGTGTATGATTCTGGAACA	0.413													4	33					0	0	0.000602	0	0	C	150569956	A	C	150569956	4	2	123	1	0	0	0	0	0	0	0	0	12410	346	12	5	512	5	PPP1R14C	6	150569956	Nonstop_Mutation	SNP	A	TCGA-G9-6343-01A-21D-1961-08		150569956	20545111	13	6176											
AMZ1	155185	broad.mit.edu	37	chr7	2748832	2748832	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggcccccctgcaggacagggGctgggccctgtgcttcagtg	4	7	16	14	0	1	0	1	0	0	0	1	1	1	1	4	5	2	3	4	5	0	1			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr7:2748832G>A	ENST00000312371.4	+	5	1093	c.725G>A	c.(724-726)gGc>gAc	p.G242D	AMZ1_ENST00000407112.1_Intron|AMZ1_ENST00000489665.1_Intron	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	242							metallopeptidase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		CAGGACAGGGGCTGGGCCCTG	0.687													5	35					0	0	0.001168	0	0	A	2748832	G	A	2748832	3	1	123	1	0	0	0	0	1	0	0	0	592	1203	42	2	739	2	AMZ1	7	2748832	Missense_Mutation	SNP	G	TCGA-G9-6343-01A-21D-1961-08		2748832	156389831	14	6177											
SP4	6671	broad.mit.edu	37	chr7	21521732	21521732	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agctccagagacatagaagaAcccatacaggttagttgatt	15	9	9	8	0	0	4	0	1	0	3	1	5	1	4	2	1	3	3	2	1	5	5			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr7:21521732A>G	ENST00000222584.3	+	5	2316	c.2098A>G	c.(2098-2100)Acc>Gcc	p.T700A		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	700					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						ACATAGAAGAACCCATACAGG	0.348													6	66					0	0	0.001984	0	0	G	21521732	A	G	21521732	3	3	123	1	0	0	0	0	1	0	0	0	15020	43	2	3	2116	3	SP4	7	21521732	Missense_Mutation	SNP	A	TCGA-G9-6343-01A-21D-1961-08	18772900	21521732	137616931	15	6178											
ZNF394	84124	broad.mit.edu	37	chr7	99096409	99096409	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccctccgtgctgggtccagGcgctcccactcctcccaggt	3	9	10	19	2	0	0	0	0	0	0	6	0	6	0	6	3	1	2	6	3	0	0			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr7:99096409G>A	ENST00000337673.6	-	2	716	c.513C>T	c.(511-513)cgC>cgT	p.R171R	ZNF394_ENST00000426306.2_Intron|ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron|ZNF394_ENST00000394177.3_5'UTR	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	171	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CTGGGTCCAGGCGCTCCCACT	0.582													5	56					0	0	0.001168	0	0	A	99096409	G	A	99096409	2	1	123	1	0	0	0	0	0	0	0	1	17937	1190	42	2		2	ZNF394	7	99096409	Silent	SNP	G	TCGA-G9-6343-01A-21D-1961-08	77574677	99096409	60042254	16	6179											
RP1	6101	broad.mit.edu	37	chr8	55542773	55542773	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctcttagatatttgccaaGttgagacctccttaaatatt	11	15	6	9	0	1	2	0	1	1	2	2	3	2	2	4	0	1	1	4	0	6	7			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr8:55542773G>A	ENST00000220676.1	+	4	6479	c.6331G>A	c.(6331-6333)Gtt>Att	p.V2111I		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	2111					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.V2111I(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TATTTGCCAAGTTGAGACCTC	0.333													10	56					0	0	0.001368	0	0	A	55542773	G	A	55542773	3	1	123	1	0	0	0	0	1	0	0	0	13584	1029	36	2	6341	2	RP1	8	55542773	Missense_Mutation	SNP	G	TCGA-G9-6343-01A-21D-1961-08		55542773	90821249	17	6180											
GSDMC	56169	broad.mit.edu	37	chr8	130762274	130762274	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gataaagaatggggtcctttGggttaaaccatgcatggttt	11	13	12	5	0	0	1	0	0	0	1	1	2	1	1	2	4	2	3	2	4	5	4			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr8:130762274G>A	ENST00000276708.4	-	12	2056	c.1175C>T	c.(1174-1176)cCa>cTa	p.P392L		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	392						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						GGGGTCCTTTGGGTTAAACCA	0.448													4	17					0	0	0.000248	0	0	A	130762274	G	A	130762274	3	1	123	1	0	0	0	0	1	0	0	0	6859	1348	47	2	363	2	GSDMC	8	130762274	Missense_Mutation	SNP	G	TCGA-G9-6343-01A-21D-1961-08	75219501	130762274	15601748	18	6181											
TOPORS	10210	broad.mit.edu	37	chr9	32544153	32544154	+	Frame_Shift_Del	DEL	AG	AG	-																															ctcctgtacacagcgaaaacAgaacttatgtaagcagcgat																										TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr9:32544153_32544154delAG	ENST00000360538.2	-	3	485_486	c.369_370delCT	c.(367-372)ttgtfs	p.FC123fs	TOPORS_ENST00000379858.1_Frame_Shift_Del_p.FC58fs	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	123	E3 ubiquitin-protein ligase activity.|Required for DNA-binding.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		CAGCGAAAACAGAACTTATGTA	0.401													20	115	---	---	---	---						-	32544154	AG	-	32544153	7	5	123	1	0	1	0	1	0	0	0	0	16431	188	7	0	2771	0	TOPORS	9	32544153	Frame_Shift_Del	DEL	AG	TCGA-G9-6343-01A-21D-1961-08		32544153	108669278	19	6182											
FZD8	8325	broad.mit.edu	37	chr10	35929635	35929635	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgggtggcgctcgctggaCacgctcaccataggcgcgcg	6	5	16	14	7	1	0	1	0	0	0	2	1	1	1	1	4	1	3	1	4	1	1			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr10:35929635C>A	ENST00000374694.1	-	1	727	c.723G>T	c.(721-723)gtG>gtT	p.V241V		NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled family receptor 8	241					axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						GCTCGCTGGACACGCTCACCA	0.736													5	40					3.59834e-05	7.19667e-05	0.001168	1	0	A	35929635	C	A	35929635	2	1	123	1	0	0	0	0	0	0	0	1	6171	465	17	4		4	FZD8	10	35929635	Silent	SNP	C	TCGA-G9-6343-01A-21D-1961-08		35929635	99605112	20	6183											
POLR3A	11128	broad.mit.edu	37	chr10	79781714	79781714	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcactgttaatgtagagggCacactgcagctgcaggaaat	12	9	11	9	0	1	1	1	0	0	1	1	2	1	2	0	2	3	6	0	2	3	2			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr10:79781714C>T	ENST00000372371.3	-	7	1089	c.952G>A	c.(952-954)Gcc>Acc	p.A318T		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	318					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			ATGTAGAGGGCACACTGCAGC	0.532													7	53					0	0	0.001984	0	0	T	79781714	C	T	79781714	3	4	123	1	0	0	0	0	1	0	0	0	12276	710	25	2	3320	2	POLR3A	10	79781714	Missense_Mutation	SNP	C	TCGA-G9-6343-01A-21D-1961-08	43852079	79781714	55753033	21	6184											
PPFIBP2	8495	broad.mit.edu	37	chr11	7670431	7670431	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagaccagtttcatgaatctAgagttgacagacgaatgctg	14	10	10	7	1	2	5	1	2	1	3	2	6	2	5	1	0	1	3	1	0	4	3			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr11:7670431A>G	ENST00000299492.4	+	20	2351	c.1963A>G	c.(1963-1965)Aga>Gga	p.R655G	PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000530181.1_Missense_Mutation_p.R512G|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.R543G|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.R497G	NM_003621.3	NP_003612.2	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	655	SAM 2.				cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		TCATGAATCTAGAGTTGACAG	0.428													4	58					0	0	0.000248	0	0	G	7670431	A	G	7670431	3	3	123	1	0	0	0	0	1	0	0	0	12359	412	15	3	2037	3	PPFIBP2	11	7670431	Missense_Mutation	SNP	A	TCGA-G9-6343-01A-21D-1961-08		7670431	127336085	22	6185											
TP53AIP1	63970	broad.mit.edu	37	chr11	128807545	128807545	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgtggcaggcaaaagacCgtctcggttttcactgcagg	8	9	14	10	2	2	1	1	0	1	1	3	1	2	1	1	5	1	5	1	5	2	2			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr11:128807545C>A	ENST00000602346.1	-	2	378	c.169G>T	c.(169-171)Ggt>Tgt	p.G57C	TP53AIP1_ENST00000458238.2_Intron|TP53AIP1_ENST00000531399.1_Intron|TP53AIP1_ENST00000530777.1_Intron	NM_001251964.1	NP_001238893.1	Q9HCN2	TPIP1_HUMAN	tumor protein p53 regulated apoptosis inducing protein 1	0					apoptosis	mitochondrion				large_intestine(1)|lung(1)|skin(1)	3						GGCAAAAGACCGTCTCGGTTT	0.607													13	88					0.000308642	0.000591564	0.003163	1	0	A	128807545	C	A	128807545	3	1	123	1	0	0	0	0	1	0	0	0	16443	652	23	4	161	4	TP53AIP1	11	128807545	Missense_Mutation	SNP	C	TCGA-G9-6343-01A-21D-1961-08	121137114	128807545	6198971	23	6186											
KIF21A	55605	broad.mit.edu	37	chr12	39696874	39696874	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcttctatgccatcataatGagggggttcaaaattgtggg	10	13	12	6	0	3	1	2	1	1	0	3	1	3	1	1	3	2	2	1	3	4	5			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr12:39696874G>A	ENST00000395670.3	-	35	5046	c.4627C>T	c.(4627-4629)Cat>Tat	p.H1543Y	KIF21A_ENST00000361961.3_Missense_Mutation_p.H1529Y|KIF21A_ENST00000361418.5_Missense_Mutation_p.H1542Y|KIF21A_ENST00000544797.2_Missense_Mutation_p.H1505Y|KIF21A_ENST00000541463.2_Missense_Mutation_p.H1489Y			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1542					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CCATCATAATGAGGGGGTTCA	0.393													10	85					0	0	0.008291	0	0	A	39696874	G	A	39696874	3	1	123	1	0	0	0	0	1	0	0	0	8330	1290	45	2	412	2	KIF21A	12	39696874	Missense_Mutation	SNP	G	TCGA-G9-6343-01A-21D-1961-08		39696874	94155021	24	6187											
OR6C2	341416	broad.mit.edu	37	chr12	55846662	55846662	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctacttgtacatagtcagaaCaattctgaagttcccttctg	11	14	6	10	0	3	2	1	1	2	1	4	2	4	2	1	0	3	2	1	0	6	7			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr12:55846662C>A	ENST00000322678.1	+	1	665	c.665C>A	c.(664-666)aCa>aAa	p.T222K	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						ATAGTCAGAACAATTCTGAAG	0.403													14	145					1.5842e-08	3.23881e-08	0.001855	1	0	A	55846662	C	A	55846662	3	1	123	1	0	0	0	0	1	0	0	0	11238	478	17	4	667	4	OR6C2	12	55846662	Missense_Mutation	SNP	C	TCGA-G9-6343-01A-21D-1961-08	16149788	55846662	78005233	25	6188											
PTPRB	0	broad.mit.edu	37	chr12	70925905	70925905	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttggagtctaactgctggagGattcggtccaatgcaataaa	12	11	11	7	1	1	0	0	0	1	0	3	3	2	3	1	4	3	2	1	4	5	4			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr12:70925905G>A	ENST00000334414.6	-	32	6458	c.6414C>T	c.(6412-6414)atC>atT	p.I2138I	PTPRB_ENST00000261266.5_Silent_p.I1920I|PTPRB_ENST00000451516.2_Silent_p.I1830I|RP11-588H23.3_ENST00000549460.1_RNA|RP11-588H23.3_ENST00000548687.1_RNA|PTPRB_ENST00000550857.1_Silent_p.I1830I|PTPRB_ENST00000538708.1_Silent_p.I1830I|RP11-588H23.3_ENST00000547656.1_RNA|PTPRB_ENST00000550358.1_Silent_p.I2050I|RP11-588H23.3_ENST00000546836.1_RNA|RP11-588H23.3_ENST00000551438.1_RNA	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1920					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ACTGCTGGAGGATTCGGTCCA	0.448													6	40					0	0	0.001168	0	0	A	70925905	G	A	70925905	2	1	123	1	0	0	0	0	0	0	0	1	12848	1164	41	2		2	PTPRB	12	70925905	Silent	SNP	G	TCGA-G9-6343-01A-21D-1961-08	15079243	70925905	62925990	26	6189											
CCDC41	51134	broad.mit.edu	37	chr12	94763798	94763798	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atttccagtttgtttgaatgTttaagttcttttacctgttg	7	22	7	5	0	1	1	0	1	1	0	2	1	2	1	2	0	1	5	2	0	3	9			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr12:94763798T>C	ENST00000397809.5	-	9	1497	c.948A>G	c.(946-948)aaA>aaG	p.K316K	CCDC41_ENST00000397807.2_Silent_p.K283K|CCDC41_ENST00000547575.1_Silent_p.K316K|CCDC41_ENST00000549352.1_5'UTR|CCDC41_ENST00000339839.5_Silent_p.K316K	NM_016122.2	NP_057206.2	Q9Y592	CCD41_HUMAN	coiled-coil domain containing 41	308										breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						TGTTTGAATGTTTAAGTTCTT	0.328													5	153					0	0	0.001168	0	0	C	94763798	T	C	94763798	2	2	123	1	0	0	0	0	0	0	0	1	2832	1722	60	3		3	CCDC41	12	94763798	Silent	SNP	T	TCGA-G9-6343-01A-21D-1961-08	23837893	94763798	39088097	27	6190											
MYH4	4622	broad.mit.edu	37	chr17	10366430	10366430	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgagctctggtttcttattgGacaggatttgataaaatatg	11	16	10	4	0	2	2	0	2	2	0	2	4	2	4	0	3	1	2	0	3	4	6			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr17:10366430G>A	ENST00000255381.2	-	10	991	c.881C>T	c.(880-882)tCc>tTc	p.S294F	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	294	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTTCTTATTGGACAGGATTTG	0.368													6	58					0	0	0.00308	0	0	A	10366430	G	A	10366430	3	1	123	1	0	0	0	0	1	0	0	0	10085	1174	41	2	5062	2	MYH4	17	10366430	Missense_Mutation	SNP	G	TCGA-G9-6343-01A-21D-1961-08		10366430	70828780	28	6191											
MUC16	94025	broad.mit.edu	37	chr19	9087660	9087660	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttcagttgtgtctgtgatGgtccatgcttttgtggccgg	3	17	14	7	1	2	1	1	1	1	0	3	1	3	1	2	3	1	3	2	3	0	4			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr19:9087660G>A	ENST00000397910.4	-	1	4358	c.4155C>T	c.(4153-4155)acC>acT	p.T1385T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1385	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTCTGTGATGGTCCATGCTT	0.473													15	128					0	0	0.006122	0	0	A	9087660	G	A	9087660	2	1	123	1	0	0	0	0	0	0	0	1	10021	1335	47	2		2	MUC16	19	9087660	Silent	SNP	G	TCGA-G9-6343-01A-21D-1961-08		9087660	50041323	29	6192											
ZNF426	79088	broad.mit.edu	37	chr19	9640096	9640096	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtatacaatatttggtgTcaggctgaagattttttcac	10	16	9	6	0	2	2	2	1	0	1	2	2	2	2	0	3	1	2	0	3	5	7			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr19:9640096T>C	ENST00000593003.1	-	6	988	c.511A>G	c.(511-513)Aca>Gca	p.T171A	ZNF426_ENST00000589289.1_3'UTR|ZNF426_ENST00000535489.1_Missense_Mutation_p.T209A|ZNF426_ENST00000253115.2_Missense_Mutation_p.T209A			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	209					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						ATATTTGGTGTCAGGCTGAAG	0.373													4	121					0	0	0.000248	0	0	C	9640096	T	C	9640096	3	2	123	1	0	0	0	0	1	0	0	0	17957	1667	58	3	1043	3	ZNF426	19	9640096	Missense_Mutation	SNP	T	TCGA-G9-6343-01A-21D-1961-08	552436	9640096	49488887	30	6193											
MYO9B	4650	broad.mit.edu	37	chr19	17265124	17265124	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acccatgcctttgttttccaGcataacttgaagattgaaga	12	13	7	9	0	0	4	0	2	0	2	1	4	1	4	3	0	3	2	3	0	3	6			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr19:17265124G>A	ENST00000595618.1	+	6	1250		c.e6-1		CTD-3032J10.2_ENST00000597216.1_RNA|CTD-3032J10.2_ENST00000599360.1_RNA|MYO9B_ENST00000397274.2_Splice_Site|MYO9B_ENST00000594824.1_Splice_Site	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB						actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						TTGTTTTCCAGCATAACTTGA	0.587													3	57					0	0	0.004672	0	0	A	17265124	G	A	17265124	5	1	123	1	0	0	0	0	0	0	1	0	10133	985	34	2	1116	2	MYO9B	19	17265124	Splice_Site	SNP	G	TCGA-G9-6343-01A-21D-1961-08	7625028	17265124	41863859	31	6194											
ZNF208	7757	broad.mit.edu	37	chr19	22156520	22156520	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttcttatgttccataaggTttgaggaccagttgaaagct	10	16	9	6	0	1	2	0	2	1	0	2	3	2	3	2	2	1	4	2	2	3	7			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr19:22156520T>C	ENST00000397126.4	-	4	1464	c.1316A>G	c.(1315-1317)aAc>aGc	p.N439S	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTCCATAAGGTTTGAGGACCA	0.373													7	67					0	0	0.001984	0	0	C	22156520	T	C	22156520	3	2	123	1	0	0	0	0	1	0	0	0	17824	1725	60	3	2530	3	ZNF208	19	22156520	Missense_Mutation	SNP	T	TCGA-G9-6343-01A-21D-1961-08	4891396	22156520	36972463	32	6195											
NCF4	4689	broad.mit.edu	37	chr22	37263492	37263492	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgcggatacctgccctcaaCgcctacatgaaggtaccagt	11	8	9	13	2	1	1	1	1	0	0	1	2	1	2	4	2	6	1	4	2	5	3			TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr22:37263492C>T	ENST00000397147.4	+	4	514	c.330C>T	c.(328-330)aaC>aaT	p.N110N	CTA-833B7.2_ENST00000330602.2_RNA|NCF4_ENST00000248899.6_Silent_p.N110N|CTA-833B7.2_ENST00000431290.1_RNA	NM_013416.3	NP_038202.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa	110	PX.				cell communication|immune response|oxidation-reduction process	cytosol|NADPH oxidase complex	phosphatidylinositol binding|protein dimerization activity			cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						CTGCCCTCAACGCCTACATGA	0.577													4	38					0	0	0.000248	0	0	T	37263492	C	T	37263492	2	4	123	1	0	0	0	0	0	0	0	1	10265	535	19	1		1	NCF4	22	37263492	Silent	SNP	C	TCGA-G9-6343-01A-21D-1961-08		37263492	14041074	33	6196											
PDGFB	5155	broad.mit.edu	37	chr22	39626111	39626111	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgctcctgggaacccccCgggcttcgggtcacaggccg	4	6	14	17	4	1	0	1	0	0	0	3	1	2	1	5	4	2	3	5	4	1	1	rs149693918		TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr22:39626111C>T	ENST00000331163.6	-	5	1366	c.579G>A	c.(577-579)ccG>ccA	p.P193P	PDGFB_ENST00000381551.4_Silent_p.P178P	NM_002608.2	NP_002599.1	P01127	PDGFB_HUMAN	platelet-derived growth factor beta polypeptide	193					activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway	basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|Golgi membrane|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity		COL1A1/PDGFB(429)	central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Melanoma(58;0.04)				Becaplermin(DB00102)	GGGAACCCCCCGGGCTTCGGG	0.622			T	COL1A1	DFSP								11	109					0	0	0.000978	0	0	T	39626111	C	T	39626111	2	4	123	1	0	0	0	0	0	0	0	1	11705	639	23	1		1	PDGFB	22	39626111	Silent	SNP	C	TCGA-G9-6343-01A-21D-1961-08	2362619	39626111	11678455	34	6197											
EFCAB6	64800	broad.mit.edu	37	chr22	44127674	44127674	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgcagtatccttgtggatgTtgtagtgtttcgaaaaccta	9	15	10	7	1	0	0	0	0	0	0	2	2	1	1	2	1	2	5	2	1	5	6	rs150224112		TCGA-G9-6343-01A-21D-1961-08	TCGA-G9-6343-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cdb78cfc-4a29-488a-b215-a4996b3ab873	e4bf7fcc-99b3-4e83-8336-2caacc77a011	g.chr22:44127674T>C	ENST00000262726.7	-	8	915	c.662A>G	c.(661-663)aAc>aGc	p.N221S	EFCAB6_ENST00000396231.2_Missense_Mutation_p.N69S|EFCAB6_ENST00000358439.4_Missense_Mutation_p.N115S|EFCAB6_ENST00000356087.4_Missense_Mutation_p.N115S	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	221					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CTTGTGGATGTTGTAGTGTTT	0.323													4	36					0	0	0.000602	0	0	C	44127674	T	C	44127674	3	2	123	1	0	0	0	0	1	0	0	0	4965	1725	60	3	3943	3	EFCAB6	22	44127674	Missense_Mutation	SNP	T	TCGA-G9-6343-01A-21D-1961-08	4501563	44127674	7176892	35	6198											
KLHDC7A	127707	broad.mit.edu	37	chr1	18807930	18807930	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagaacagctgttggcagtaAccctgaccctccccatttcc	9	9	7	16	0	0	2	0	1	0	1	2	2	2	2	5	1	3	4	5	1	2	3			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr1:18807930A>G	ENST00000400664.1	+	1	507	c.455A>G	c.(454-456)aAc>aGc	p.N152S		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	152						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GTTGGCAGTAACCCTGACCCT	0.647													4	71					0	0	1	0	0	G	18807930	A	G	18807930	3	3	124	1	0	0	0	0	1	0	0	0	8403	43	2	3	457	3	KLHDC7A	1	18807930	Missense_Mutation	SNP	A	TCGA-G9-6347-01A-11D-A31L-08		18807930	230442691	1	6199											
SETDB1	9869	broad.mit.edu	37	chr1	150936826	150936826	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggggccattgaatgcagaGgacgtcttctttagaggaca	10	10	14	7	1	2	3	0	1	2	2	2	5	2	5	1	4	1	1	1	4	2	4			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr1:150936826G>C	ENST00000271640.5	+	22	4052	c.3862G>C	c.(3862-3864)Gga>Cga	p.G1288R	SETDB1_ENST00000368969.4_Missense_Mutation_p.G1287R|CERS2_ENST00000561294.1_Silent_p.S367S	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	1288	Post-SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGAATGCAGAGGACGTCTTCT	0.522													6	23					0	0	1	0	0	C	150936826	G	C	150936826	3	2	124	1	0	0	0	0	1	0	0	0	14192	1001	35	4	3944	4	SETDB1	1	150936826	Missense_Mutation	SNP	G	TCGA-G9-6347-01A-11D-A31L-08	132128896	150936826	98313795	2	6200											
MUC1	4582	broad.mit.edu	37	chr1	155161799	155161799	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatcgtgggctggcggggTggtggagcccagggctggcc	4	6	21	10	2	0	0	0	0	0	0	1	2	0	1	2	8	1	2	2	8	0	0			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr1:155161799T>G	ENST00000368395.1	-	2	405	c.334A>C	c.(334-336)Acc>Ccc	p.T112P	MUC1_ENST00000368393.3_Intron|MUC1_ENST00000337604.5_Intron|MUC1_ENST00000368396.4_Intron|MUC1_ENST00000342482.4_Intron|MUC1_ENST00000338684.5_Intron|MUC1_ENST00000368398.3_Intron|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000368390.3_Intron|MUC1_ENST00000438413.1_Intron|MUC1_ENST00000368392.3_Intron|MUC1_ENST00000462215.1_Intron|MUC1_ENST00000343256.5_Intron|MUC1_ENST00000457295.2_Intron	NM_001204285.1|NM_001204286.1	NP_001191214.1|NP_001191215.1	P15941	MUC1_HUMAN	mucin 1, cell surface associated	892						apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCTGGCGGGGTGGTGGAGCCC	0.711			T	IGH@	B-NHL								8	19					0	0	1	0	0	G	155161799	T	G	155161799	3	3	124	1	0	0	0	0	1	0	0	0	10018	1711	59	5		5	MUC1	1	155161799	Missense_Mutation	SNP	T	TCGA-G9-6347-01A-11D-A31L-08	4224973	155161799	94088822	3	6201											
OBSCN	84033	broad.mit.edu	37	chr1	228466419	228466419	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaccctcgtgcgcccgctgCgggacaagattgccatggag	7	7	14	13	4	0	2	0	1	0	1	1	4	0	4	3	2	3	1	3	2	1	1			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr1:228466419C>T	ENST00000570156.2	+	31	8250	c.8176C>T	c.(8176-8178)Cgg>Tgg	p.R2726W	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.R1144W|OBSCN_ENST00000422127.1_Missense_Mutation_p.R2297W|OBSCN_ENST00000284548.11_Missense_Mutation_p.R2297W|OBSCN_ENST00000366709.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1724	Ig-like 26.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCGCCCGCTGCGGGACAAGAT	0.662													5	79					0	0	1	0	0	T	228466419	C	T	228466419	3	4	124	1	0	0	0	0	1	0	0	0	10860	759	27	1	6987	1	OBSCN	1	228466419	Missense_Mutation	SNP	C	TCGA-G9-6347-01A-11D-A31L-08	73304620	228466419	20784202	4	6202											
KIF3C	3797	broad.mit.edu	37	chr2	26203359	26203359	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaccaggctgcggtcatcCtggatggctgccttctcctc	4	11	10	16	1	3	0	2	0	1	0	6	1	4	1	4	4	2	2	4	4	0	1			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr2:26203359C>T	ENST00000264712.3	-	1	2007	c.1428G>A	c.(1426-1428)caG>caA	p.Q476Q	KIF3C_ENST00000405914.1_Silent_p.Q476Q	NM_002254.6	NP_002245.4	O14782	KIF3C_HUMAN	kinesin family member 3C	476					blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCGGTCATCCTGGATGGCTG	0.617													6	123					0	0	1	0	0	T	26203359	C	T	26203359	2	4	124	1	0	0	0	0	0	0	0	1	8344	680	24	2		2	KIF3C	2	26203359	Silent	SNP	C	TCGA-G9-6347-01A-11D-A31L-08		26203359	216996014	5	6203											
R3HDM1	23518	broad.mit.edu	37	chr2	136481598	136481598	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggaactctttaaaattggCgccaagatccggtggctccg	9	9	13	10	3	1	1	0	0	1	1	3	2	3	2	3	5	1	1	3	5	4	3			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr2:136481598C>T	ENST00000264160.4	+	26	3406	c.3036C>T	c.(3034-3036)ggC>ggT	p.G1012G	R3HDM1_ENST00000409606.1_Silent_p.G1013G|R3HDM1_ENST00000410054.1_Silent_p.G957G|R3HDM1_ENST00000329971.3_Silent_p.G883G|R3HDM1_ENST00000409478.1_Silent_p.G884G	NM_015361.2	NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	1012							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		TTAAAATTGGCGCCAAGATCC	0.517													4	110					0	0	1	0	0	T	136481598	C	T	136481598	2	4	124	1	0	0	0	0	0	0	0	1	12939	755	27	1		1	R3HDM1	2	136481598	Silent	SNP	C	TCGA-G9-6347-01A-11D-A31L-08	110278239	136481598	106717775	6	6204											
SF3B1	23451	broad.mit.edu	37	chr2	198265579	198265579	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttctgtactgttcggcttCatctttcagatcatccacaa	8	17	5	11	1	5	1	3	0	2	1	7	1	6	1	1	1	1	3	1	1	2	6			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr2:198265579C>T	ENST00000335508.5	-	18	2669	c.2578G>A	c.(2578-2580)Gaa>Aaa	p.E860K		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	860					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TGTTCGGCTTCATCTTTCAGA	0.363			Mis		myelodysplastic syndrome								14	67					0	0	1	0	0	T	198265579	C	T	198265579	3	4	124	1	0	0	0	0	1	0	0	0	14203	835	29	2	1368	2	SF3B1	2	198265579	Missense_Mutation	SNP	C	TCGA-G9-6347-01A-11D-A31L-08	61783981	198265579	44933794	7	6205											
CDK5R2	8941	broad.mit.edu	37	chr2	219825271	219825271	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtgttcgtgtacctgctgtgCcgcgagtcgctgcgtgggga	3	11	17	10	5	0	0	0	0	0	0	2	2	0	1	2	2	4	4	2	2	1	2			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr2:219825271C>T	ENST00000302625.4	+	1	895	c.729C>T	c.(727-729)tgC>tgT	p.C243C	AC097468.7_ENST00000429343.1_RNA	NM_003936.4	NP_003927.1	Q13319	CD5R2_HUMAN	cyclin-dependent kinase 5, regulatory subunit 2 (p39)	243					regulation of cyclin-dependent protein kinase activity	cyclin-dependent protein kinase 5 holoenzyme complex	cyclin-dependent protein kinase 5 activator activity			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	8		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACCTGCTGTGCCGCGAGTCGC	0.662													5	227					0	0	1	0	0	T	219825271	C	T	219825271	2	4	124	1	0	0	0	0	0	0	0	1	3166	747	26	2		2	CDK5R2	2	219825271	Silent	SNP	C	TCGA-G9-6347-01A-11D-A31L-08	21559692	219825271	23374102	8	6206											
SCN5A	6331	broad.mit.edu	37	chr3	38627374	38627374	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgctgtccctcagctccgaGtagttcttgccaaagagctg	7	11	10	13	2	2	1	1	0	1	1	5	2	4	1	3	0	3	5	3	0	2	3			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr3:38627374G>A	ENST00000413689.1	-	16	2788	c.2595C>T	c.(2593-2595)taC>taT	p.Y865Y	SCN5A_ENST00000455624.2_Silent_p.Y865Y|SCN5A_ENST00000450102.2_Silent_p.Y865Y|SCN5A_ENST00000449557.2_Silent_p.Y865Y|SCN5A_ENST00000414099.2_Silent_p.Y865Y|SCN5A_ENST00000443581.1_Silent_p.Y865Y|SCN5A_ENST00000425664.1_Silent_p.Y865Y|SCN5A_ENST00000423572.2_Silent_p.Y865Y|SCN5A_ENST00000333535.4_Silent_p.Y865Y|SCN5A_ENST00000451551.2_Silent_p.Y865Y	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	865					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TCAGCTCCGAGTAGTTCTTGC	0.562													9	127					0	0	1	0	0	A	38627374	G	A	38627374	2	1	124	1	0	0	0	0	0	0	0	1	13976	1024	36	2		2	SCN5A	3	38627374	Silent	SNP	G	TCGA-G9-6347-01A-11D-A31L-08		38627374	159395056	9	6207											
CD200R1L	344807	broad.mit.edu	37	chr3	112546303	112546303	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtcatgagtggtgtccaccGgacgaatctgaaggtccgaa	10	8	13	10	4	2	2	1	2	1	0	4	5	4	3	3	3	0	0	3	3	3	0			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr3:112546303G>A	ENST00000488794.1	-	5	867	c.278C>T	c.(277-279)cCg>cTg	p.P93L	CD200R1L_ENST00000448932.1_Missense_Mutation_p.P93L|CD200R1L_ENST00000398214.1_Missense_Mutation_p.P114L			Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like	114	Ig-like V-type.					integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						GGTGTCCACCGGACGAATCTG	0.453													5	81					0	0	1	0	0	A	112546303	G	A	112546303	3	1	124	1	0	0	0	0	1	0	0	0	3004	1116	39	1	490	1	CD200R1L	3	112546303	Missense_Mutation	SNP	G	TCGA-G9-6347-01A-11D-A31L-08	73918929	112546303	85476127	10	6208											
MYLK	4638	broad.mit.edu	37	chr3	123383037	123383037	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccgcagtgctcctggcgCgcggccaggatggtgagctt	5	7	16	13	4	0	1	0	1	0	0	1	2	1	2	3	4	3	3	3	4	0	1			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr3:123383037C>T	ENST00000360772.3	-	24	4278	c.3900G>A	c.(3898-3900)gcG>gcA	p.A1300A	MYLK_ENST00000475616.1_Silent_p.A1300A|MYLK_ENST00000354792.5_Silent_p.A100A|MYLK_ENST00000360304.3_Silent_p.A1300A|MYLK_ENST00000359169.1_Silent_p.A1300A|MYLK_ENST00000346322.5_Silent_p.A1231A			Q15746	MYLK_HUMAN	myosin light chain kinase	1300	Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Ig-like C2-type 8.			A -> G (in Ref. 1; CAA59685).	aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GCTCCTGGCGCGCGGCCAGGA	0.627													23	216					0	0	1	0	0	T	123383037	C	T	123383037	2	4	124	1	0	0	0	0	0	0	0	1	10104	755	27	1		1	MYLK	3	123383037	Silent	SNP	C	TCGA-G9-6347-01A-11D-A31L-08	10836734	123383037	74639393	11	6209											
PCDHA7	0	broad.mit.edu	37	chr5	140215658	140215658	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acgagaacgacaacgcgccgGcactgctggcgcctcgggtg	8	4	15	14	7	0	1	0	0	0	1	1	3	0	1	2	3	3	2	2	3	2	0			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr5:140215658G>T	ENST00000525929.1	+	1	1690	c.1690G>T	c.(1690-1692)Gca>Tca	p.A564S	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.A564S	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACGCGCCGGCACTGCTGGC	0.687													19	184					1.56452e-12	1.56452e-12	1	1	0	T	140215658	G	T	140215658	3	4	124	1	0	0	0	0	1	0	0	0	11576	1203	42	4	1692	4	PCDHA7	5	140215658	Missense_Mutation	SNP	G	TCGA-G9-6347-01A-11D-A31L-08		140215658	40699602	12	6210											
MRPS10	55173	broad.mit.edu	37	chr6	42176031	42176031	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggcctccctgaggctttatGacttgctttcttctttttct	3	20	7	11	0	3	2	0	2	3	0	4	2	4	2	2	2	1	2	2	2	1	7			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr6:42176031G>A	ENST00000053468.3	-	7	617	c.602C>T	c.(601-603)tCa>tTa	p.S201L		NM_018141.3	NP_060611.2	P82664	RT10_HUMAN	mitochondrial ribosomal protein S10	201					translation	actin cytoskeleton|mitochondrion|ribosome	structural constituent of ribosome			endometrium(1)|lung(1)	2	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00528)			GAGGCTTTATGACTTGCTTTC	0.393													10	324					0	0	1	0	0	A	42176031	G	A	42176031	3	1	124	1	0	0	0	0	1	0	0	0	9870	1294	45	2	7	2	MRPS10	6	42176031	Missense_Mutation	SNP	G	TCGA-G9-6347-01A-11D-A31L-08		42176031	128939036	13	6211											
TIAM2	26230	broad.mit.edu	37	chr6	155561701	155561701	+	Translation_Start_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcactgtgcaggagttttaAcgacagtcaggccaacggca	11	8	12	10	2	1	0	1	0	0	0	1	2	1	1	1	3	4	4	1	3	2	2			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr6:155561701A>T	ENST00000275246.7	+	0	492				TIAM2_ENST00000456877.2_Missense_Mutation_p.N381I|TIAM2_ENST00000318981.5_Missense_Mutation_p.N1069I|TIAM2_ENST00000461783.3_Missense_Mutation_p.N1069I|TIAM2_ENST00000456144.1_Missense_Mutation_p.N1069I|TIAM2_ENST00000367174.2_Missense_Mutation_p.N445I|TIAM2_ENST00000360366.4_Missense_Mutation_p.N1093I|TIAM2_ENST00000529824.2_Missense_Mutation_p.N1069I|TIAM2_ENST00000528391.2_Missense_Mutation_p.N405I	NM_001010927.2	NP_001010927.1	Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2						apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AGGAGTTTTAACGACAGTCAG	0.582													5	53					0	0	1	0	0	T	155561701	A	T	155561701	1	4	124	1	0	0	0	0	0	0	0	0	15951	43	2	5		5	TIAM2	6	155561701	Translation_Start_Site	SNP	A	TCGA-G9-6347-01A-11D-A31L-08	113385670	155561701	15553366	14	6212											
C6orf70	0	broad.mit.edu	37	chr6	170162587	170162587	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggacttaggaatgtttttgCcacacttaacagatgtccaa	12	13	8	8	0	0	1	0	0	0	1	1	3	1	3	2	2	2	1	2	2	4	4			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr6:170162587C>T	ENST00000588451.1	+	9	1055	c.542C>T	c.(541-543)gCc>gTc	p.A181V	C6orf70_ENST00000418781.3_Missense_Mutation_p.A307V|C6orf70_ENST00000366772.2_Missense_Mutation_p.A307V|C6orf70_ENST00000366773.3_Missense_Mutation_p.A307V|C6orf70_ENST00000392095.4_Missense_Mutation_p.A181V			Q5T6L9	CF070_HUMAN		307						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1)	20		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)		AATGTTTTTGCCACACTTAAC	0.383													4	134					0	0	1	0	0	T	170162587	C	T	170162587	3	4	124	1	0	0	0	0	1	0	0	0	2385	739	26	2	954	2	C6orf70	6	170162587	Missense_Mutation	SNP	C	TCGA-G9-6347-01A-11D-A31L-08	14600886	170162587	952480	15	6213											
TBP	6908	broad.mit.edu	37	chr6	170871043	170871043	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcaacaGcaacagcagcagcagcagca	16	0	11	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	11	0	0	2	0			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr6:170871043G>A	ENST00000392092.2	+	3	498	c.219G>A	c.(217-219)caG>caA	p.Q73Q	TBP_ENST00000540980.1_Silent_p.Q53Q|TBP_ENST00000230354.6_Silent_p.Q73Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	73	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q73Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcaacagcaacagcagc	0.562													5	50					0	0	1	0	0	A	170871043	G	A	170871043	2	1	124	1	0	0	0	0	0	0	0	1	15704	962	34	2		2	TBP	6	170871043	Silent	SNP	G	TCGA-G9-6347-01A-11D-A31L-08	708456	170871043	244024	16	6214											
SAMD9L	219285	broad.mit.edu	37	chr7	92760915	92760916	+	Frame_Shift_Ins	INS	-	-	T																															gtactgtcccctgaaggatcINStatttaaggatgaaacatac																										TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr7:92760915_92760916insT	ENST00000318238.4	-	5	5585_5586	c.4369_4370insA	c.(4369-4371)atcfs	p.I1457fs	SAMD9L_ENST00000437805.1_Frame_Shift_Ins_p.I1457fs|SAMD9L_ENST00000411955.1_Frame_Shift_Ins_p.I1457fs	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1457										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CCTGAAGGATCTATTTAAGGAT	0.436													9	173	---	---	---	---						T	92760916	-	T	92760915	7	5	124	1	0	1	1	0	0	0	0	0	13879	913	32	0	388	0	SAMD9L	7	92760915	Frame_Shift_Ins	INS	-	TCGA-G9-6347-01A-11D-A31L-08		92760915	66377748	17	6215											
FSCN3	29999	broad.mit.edu	37	chr7	127235472	127235472	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggcaccgtgtgttatggcCgcccaaggaccagccaccat	9	7	11	14	2	0	0	0	0	0	0	0	1	0	1	6	3	1	2	6	3	2	1	rs146886586		TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr7:127235472C>T	ENST00000265825.5	+	2	475	c.256C>T	c.(256-258)Cgc>Tgc	p.R86C	FSCN3_ENST00000478328.1_3'UTR|FSCN3_ENST00000420086.2_5'UTR	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)	86						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						GTGTTATGGCCGCCCAAGGAC	0.562													8	72					0	0	1	0	0	T	127235472	C	T	127235472	3	4	124	1	0	0	0	0	1	0	0	0	6104	652	23	1	262	1	FSCN3	7	127235472	Missense_Mutation	SNP	C	TCGA-G9-6347-01A-11D-A31L-08	34474557	127235472	31903191	18	6216											
CALD1	800	broad.mit.edu	37	chr7	134618474	134618476	+	In_Frame_Del	DEL	GGA	GGA	-																															gaagagagggaaaggatgagGgaggaagagaaaagggcagc																										TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr7:134618474_134618476delGGA	ENST00000361675.2	+	5	1183_1185	c.954_956delGGA	c.(952-957)agg>ag	p.RE318del	CALD1_ENST00000393118.2_Intron|CALD1_ENST00000361901.2_Intron|CALD1_ENST00000361388.2_Intron|CALD1_ENST00000495522.1_Intron|CALD1_ENST00000417172.1_Intron|CALD1_ENST00000424922.1_Intron|CALD1_ENST00000422748.1_Intron|CALD1_ENST00000543443.1_Intron			Q05682	CALD1_HUMAN	caldesmon 1	318					cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						aaaggatgagggaggaagagaaa	0.483													3	5	---	---	---	---						-	134618476	GGA	-	134618474	7	5	124	1	0	1	0	1	0	0	0	0	2599	1223	43	0	1021	0	CALD1	7	134618474	In_Frame_Del	DEL	GGA	TCGA-G9-6347-01A-11D-A31L-08	7383002	134618474	24520189	19	6217											
EGR3	1960	broad.mit.edu	37	chr8	22548994	22548994	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaccgatgtccattacattCtctgcggagagcgggggaga	10	8	14	9	3	1	3	0	0	1	3	3	6	2	3	2	3	3	0	2	3	1	2			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr8:22548994C>G	ENST00000317216.2	-	2	513	c.154_splice	c.e2-1	p.E52_splice	EGR3_ENST00000519492.1_Splice_Site_p.R70_splice|EGR3_ENST00000524088.1_5'UTR|EGR3_ENST00000522910.1_Splice_Site_p.E14_splice|RP11-459E5.1_ENST00000523627.1_RNA	NM_001199881.1|NM_004430.2	NP_001186810.1|NP_004421.2	Q06889	EGR3_HUMAN	early growth response 3	52					circadian rhythm|muscle organ development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		CCATTACATTCTCTGCGGAGA	0.667													5	103					0	0	1	0	0	G	22548994	C	G	22548994	5	3	124	1	0	0	0	0	0	0	1	0	4999	927	32	4	1011	4	EGR3	8	22548994	Splice_Site	SNP	C	TCGA-G9-6347-01A-11D-A31L-08		22548994	123815028	20	6218											
TTC18	118491	broad.mit.edu	37	chr10	75104854	75104854	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggaacttgcagaccgaccAtgtagttctgcccaggacct	10	9	10	12	1	1	1	0	0	1	1	1	4	1	3	4	2	3	3	4	2	2	3			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr10:75104854A>G	ENST00000310715.3	-	6	698	c.578T>C	c.(577-579)aTg>aCg	p.M193T	TTC18_ENST00000394865.1_Missense_Mutation_p.M193T|TTC18_ENST00000340329.3_Missense_Mutation_p.M193T|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000401621.2_Missense_Mutation_p.M193T|TTC18_ENST00000493787.1_5'UTR	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	193							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					CAGACCGACCATGTAGTTCTG	0.488													22	247					0	0	1	0	0	G	75104854	A	G	75104854	3	3	124	1	0	0	0	0	1	0	0	0	16747	217	8	3	2879	3	TTC18	10	75104854	Missense_Mutation	SNP	A	TCGA-G9-6347-01A-11D-A31L-08		75104854	60429893	21	6219											
OR8K1	390157	broad.mit.edu	37	chr11	56113902	56113902	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caatggcctatgatcgctacGtagccatctgtaaacctctt	10	12	7	12	2	2	1	0	1	2	0	3	1	2	1	3	1	3	3	3	1	6	5			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr11:56113902G>A	ENST00000279783.2	+	1	482	c.388G>A	c.(388-390)Gta>Ata	p.V130I		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	130					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V130I(1)		large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					TGATCGCTACGTAGCCATCTG	0.413										HNSCC(65;0.19)			10	196					0	0	1	0	0	A	56113902	G	A	56113902	3	1	124	1	0	0	0	0	1	0	0	0	11290	1145	40	1	390	1	OR8K1	11	56113902	Missense_Mutation	SNP	G	TCGA-G9-6347-01A-11D-A31L-08		56113902	78892614	22	6220											
MDM1	56890	broad.mit.edu	37	chr12	68710032	68710032	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccttttctcggagttctttaAcctattcaggagagttcaga	9	15	8	9	1	4	2	2	0	2	2	5	4	4	3	2	2	1	2	2	2	2	8			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr12:68710032A>G	ENST00000303145.7	-	8	1093	c.1005_splice	c.e8-1	p.V336_splice	MDM1_ENST00000411698.2_Splice_Site_p.V301_splice|MDM1_ENST00000540418.1_Splice_Site_p.V56_splice	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	336						nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		GAGTTCTTTAACCTATTCAGG	0.403													3	36					0	0	1	0	0	G	68710032	A	G	68710032	5	3	124	1	0	0	0	0	0	0	1	0	9462	57	2	3	1165	3	MDM1	12	68710032	Splice_Site	SNP	A	TCGA-G9-6347-01A-11D-A31L-08		68710032	65141863	23	6221											
PRKD1	5587	broad.mit.edu	37	chr14	30100144	30100144	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acatttgccgtagtgatttcGaaacaatgaggattggcccc	11	11	10	9	2	0	2	0	2	0	0	1	4	0	3	3	2	2	1	3	2	3	4			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr14:30100144G>A	ENST00000331968.5	-	10	1705	c.1476C>T	c.(1474-1476)ttC>ttT	p.F492F	PRKD1_ENST00000415220.2_Silent_p.F500F	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	492	PH.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		TAGTGATTTCGAAACAATGAG	0.398													6	88					0	0	1	0	0	A	30100144	G	A	30100144	2	1	124	1	0	0	0	0	0	0	0	1	12570	1049	37	1		1	PRKD1	14	30100144	Silent	SNP	G	TCGA-G9-6347-01A-11D-A31L-08		30100144	77249396	24	6222											
PKD1	5310	broad.mit.edu	37	chr16	2142146	2142146	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctgaagcctcctgcggcCgagcacgtgtggaccctggg	5	7	16	13	3	0	1	0	1	0	0	1	3	1	2	4	3	4	2	4	3	1	0			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr16:2142146C>T	ENST00000262304.4	-	40	11521	c.11313G>A	c.(11311-11313)tcG>tcA	p.S3771S	RP11-304L19.1_ENST00000570072.1_RNA|PKD1_ENST00000423118.1_Silent_p.S3770S	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3771					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CTCCTGCGGCCGAGCACGTGT	0.647													7	32					0	0	1	0	0	T	2142146	C	T	2142146	2	4	124	1	0	0	0	0	0	0	0	1	12011	639	23	1		1	PKD1	16	2142146	Silent	SNP	C	TCGA-G9-6347-01A-11D-A31L-08		2142146	88212607	25	6223											
RNF135	84282	broad.mit.edu	37	chr17	29325769	29325769	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagtgactgtgtctcaccgcCcacaaccctatcgctggagc	8	8	9	16	2	1	1	1	1	1	0	3	2	1	2	3	1	2	1	3	1	2	1			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr17:29325769C>T	ENST00000328381.5	+	5	1732	c.859C>T	c.(859-861)Cca>Tca	p.P287S	RNF135_ENST00000535306.2_3'UTR|RNF135_ENST00000324689.4_3'UTR|RNF135_ENST00000443677.2_3'UTR	NM_032322.3	NP_115698.3	Q8IUD6	RN135_HUMAN	ring finger protein 135	287	B30.2/SPRY.				innate immune response|negative regulation of type I interferon production|positive regulation of interferon-beta production|regulation of innate immune response	cytosol	protein binding|ribonucleoprotein binding|ubiquitin-protein ligase activity|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	10		all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255)				GTCTCACCGCCCACAACCCTA	0.522													6	87					0	0	1	0	0	T	29325769	C	T	29325769	3	4	124	1	0	0	0	0	1	0	0	0	13492	623	22	2	946	2	RNF135	17	29325769	Missense_Mutation	SNP	C	TCGA-G9-6347-01A-11D-A31L-08		29325769	51869441	26	6224											
CDH7	1005	broad.mit.edu	37	chr18	63477082	63477082	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcgtgaggagcaggcctactAcacgctccgagctcaagcgc	9	6	12	14	4	1	1	1	1	0	0	3	3	2	2	2	2	5	3	2	2	3	2			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr18:63477082A>G	ENST00000536984.2	+	3	1047	c.353A>G	c.(352-354)tAc>tGc	p.Y118C	CDH7_ENST00000323011.3_Missense_Mutation_p.Y118C|CDH7_ENST00000397968.2_Missense_Mutation_p.Y118C			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	118	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CAGGCCTACTACACGCTCCGA	0.502													3	73					0	0	1	0	0	G	63477082	A	G	63477082	3	3	124	1	0	0	0	0	1	0	0	0	3137	391	14	3	359	3	CDH7	18	63477082	Missense_Mutation	SNP	A	TCGA-G9-6347-01A-11D-A31L-08		63477082	14600166	27	6225											
KLK8	11202	broad.mit.edu	37	chr19	51499377	51499377	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcagatgttggtatagaCgccaggtttgtcggacctcc	7	10	14	10	3	0	2	0	0	0	2	2	3	1	3	3	4	0	4	3	4	2	4	rs56296296	byFrequency	TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr19:51499377C>T	ENST00000600767.1	-	7	1210	c.721G>A	c.(721-723)Gtc>Atc	p.V241I	CTB-147C22.9_ENST00000594512.1_RNA|KLK8_ENST00000598195.1_5'UTR|KLK8_ENST00000291726.7_Missense_Mutation_p.V241I|KLK8_ENST00000391806.2_Missense_Mutation_p.V286I|KLK8_ENST00000347619.4_Missense_Mutation_p.V100I|KLK8_ENST00000320838.5_3'UTR|KLK8_ENST00000593490.1_3'UTR			O60259	KLK8_HUMAN	kallikrein-related peptidase 8	241	Peptidase S1.				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity	p.V286I(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		TTGGTATAGACGCCAGGTTTG	0.542													4	174					0	0	1	0	0	T	51499377	C	T	51499377	3	4	124	1	0	0	0	0	1	0	0	0	8453	536	19	1	65	1	KLK8	19	51499377	Missense_Mutation	SNP	C	TCGA-G9-6347-01A-11D-A31L-08		51499377	7629606	28	6226											
HM13	81502	broad.mit.edu	37	chr20	30115327	30115327	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aacaatcaccagccgggatgCcgcccgcttccccatcatcg	9	6	8	18	4	2	0	2	0	0	0	4	1	3	1	6	1	3	1	6	1	2	1			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr20:30115327C>T	ENST00000335574.5	+	2	348	c.224C>T	c.(223-225)gCc>gTc	p.A75V	HM13_ENST00000340852.5_Missense_Mutation_p.A75V|HM13_ENST00000376127.3_Missense_Mutation_p.A75V|HM13_ENST00000398174.3_Missense_Mutation_p.A75V	NM_178580.1	NP_848695.1	Q8TCT9	HM13_HUMAN	histocompatibility (minor) 13	75					membrane protein proteolysis	cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane	aspartic-type endopeptidase activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			AGCCGGGATGCCGCCCGCTTC	0.502													4	163					0	0	1	0	0	T	30115327	C	T	30115327	3	4	124	1	0	0	0	0	1	0	0	0	7258	739	26	2	230	2	HM13	20	30115327	Missense_Mutation	SNP	C	TCGA-G9-6347-01A-11D-A31L-08		30115327	32910193	29	6227											
SLCO4A1	28231	broad.mit.edu	37	chr20	61288286	61288286	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcctctgcctcaccttcgtCagctacttcgggggctcagg	4	11	11	15	2	4	0	3	0	1	0	6	0	4	0	3	3	4	2	3	3	1	3			TCGA-G9-6347-01A-11D-A31L-08	TCGA-G9-6347-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	470a25cd-eea8-4ca6-b91c-86e36397135a	b63236ea-caa8-44c1-ba56-d36c6c394c23	g.chr20:61288286C>T	ENST00000217159.1	+	2	685	c.480C>T	c.(478-480)gtC>gtT	p.V160V	SLCO4A1_ENST00000370507.1_Silent_p.V160V	NM_016354.3	NP_057438.3	Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	160					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			TCACCTTCGTCAGCTACTTCG	0.667													9	73					0	0	1	0	0	T	61288286	C	T	61288286	2	4	124	1	0	0	0	0	0	0	0	1	14784	813	29	2		2	SLCO4A1	20	61288286	Silent	SNP	C	TCGA-G9-6347-01A-11D-A31L-08	31172959	61288286	1737234	30	6228											
MFN2	9927	broad.mit.edu	37	chr1	12058937	12058937	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtccaccctgatgcagacggTaactcctcctctgccttctc	6	11	7	17	1	2	2	0	1	2	1	6	2	5	2	5	1	3	2	5	1	1	2			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr1:12058937T>A	ENST00000235329.5	+	7	1030		c.e7+2		MFN2_ENST00000444836.1_Splice_Site	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2						blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding	p.?(1)		endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		ATGCAGACGGTAACTCCTCCT	0.577													14	120					0	0	0.105934	0	0	A	12058937	T	A	12058937	5	1	125	1	0	0	0	0	0	0	1	0	9574	1652	57	5	728	5	MFN2	1	12058937	Splice_Site	SNP	T	TCGA-G9-6348-01A-11D-1786-08		12058937	237191684	1	6229											
GRIK3	2899	broad.mit.edu	37	chr1	37324731	37324731	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttgatgaagttcatgaagCggccgccaaagcgccaggcc	10	6	12	13	3	1	3	1	3	0	0	1	3	1	3	5	2	2	1	5	2	3	2			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr1:37324731C>T	ENST00000373091.3	-	7	1098	c.1082G>A	c.(1081-1083)cGc>cAc	p.R361H	GRIK3_ENST00000462621.1_5'UTR|GRIK3_ENST00000373093.4_Missense_Mutation_p.R361H	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	361					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	p.R361H(2)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GTTCATGAAGCGGCCGCCAAA	0.627													20	88					0	0	0.043863	0	0	T	37324731	C	T	37324731	3	4	125	1	0	0	0	0	1	0	0	0	6816	768	27	1	1717	1	GRIK3	1	37324731	Missense_Mutation	SNP	C	TCGA-G9-6348-01A-11D-1786-08	25265794	37324731	211925890	2	6230											
LRRIQ3	127255	broad.mit.edu	37	chr1	74507397	74507397	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctctttgtggtgcaaaaaaCtctttcatactccgctccaa	10	13	6	12	1	3	0	1	0	2	0	5	0	5	0	2	1	3	3	2	1	5	3			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr1:74507397C>A	ENST00000354431.4	-	7	1409	c.1218G>T	c.(1216-1218)gaG>gaT	p.E406D	LRRIQ3_ENST00000395089.1_Missense_Mutation_p.E406D	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	406								p.E406D(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						GTGCAAAAAACTCTTTCATAC	0.343													15	74					3.27435e-08	3.91753e-08	0.020292	1	0	A	74507397	C	A	74507397	3	1	125	1	0	0	0	0	1	0	0	0	9075	564	20	4	664	4	LRRIQ3	1	74507397	Missense_Mutation	SNP	C	TCGA-G9-6348-01A-11D-1786-08	37182666	74507397	174743224	3	6231											
SV2A	0	broad.mit.edu	37	chr1	149885276	149885276	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacgatcttcgggaatattcGtcctggactctgtccaggcc	7	12	10	12	3	2	0	0	0	2	0	6	3	4	2	3	3	1	0	3	3	3	4			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr1:149885276G>A	ENST00000369146.3	-	2	607	c.117C>T	c.(115-117)gaC>gaT	p.D39D	SV2A_ENST00000369145.1_Silent_p.D39D	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	39	Interaction with SYT1 (By similarity).				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	p.D39D(2)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	GGGAATATTCGTCCTGGACTC	0.542													19	94					0	0	0.043863	0	0	A	149885276	G	A	149885276	2	1	125	1	0	0	0	0	0	0	0	1	15473	1136	40	1		1	SV2A	1	149885276	Silent	SNP	G	TCGA-G9-6348-01A-11D-1786-08	75377879	149885276	99365345	4	6232											
ARHGAP30	257106	broad.mit.edu	37	chr1	161022538	161022538	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaggtcctcggggctgccTgatgcccgggtccctggaag	6	8	15	12	2	0	1	0	1	0	0	3	2	2	2	4	5	2	1	4	5	2	1			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr1:161022538T>C	ENST00000368013.3	-	7	1034	c.714A>G	c.(712-714)tcA>tcG	p.S238S	ARHGAP30_ENST00000368015.1_Silent_p.S61S|ARHGAP30_ENST00000368016.3_Silent_p.S238S	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	238					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.S238S(2)		breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CGGGGCTGCCTGATGCCCGGG	0.607													3	63					0	0	0.004672	0	0	C	161022538	T	C	161022538	2	2	125	1	0	0	0	0	0	0	0	1	876	1567	55	3		3	ARHGAP30	1	161022538	Silent	SNP	T	TCGA-G9-6348-01A-11D-1786-08	11137262	161022538	88228083	5	6233											
TNN	63923	broad.mit.edu	37	chr1	175086262	175086262	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcctgacgggcctgaggccGggtgtggagtacacggtgca	6	7	18	10	3	0	2	0	2	0	0	1	3	1	3	3	5	2	2	3	5	1	1	rs138969989	by1000genomes	TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr1:175086262G>A	ENST00000239462.4	+	10	2420	c.2307G>A	c.(2305-2307)ccG>ccA	p.P769P		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	769	Fibronectin type-III 6.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.P769P(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GCCTGAGGCCGGGTGTGGAGT	0.617													19	101					0	0	0.038395	0	0	A	175086262	G	A	175086262	2	1	125	1	0	0	0	0	0	0	0	1	16383	1103	39	1		1	TNN	1	175086262	Silent	SNP	G	TCGA-G9-6348-01A-11D-1786-08	14063724	175086262	74164359	6	6234											
CFHR5	81494	broad.mit.edu	37	chr1	196952162	196952162	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcaaaatccttttggactcGcataacatgcacagaagaag	15	10	7	9	1	1	2	1	0	0	2	3	3	2	3	1	1	2	2	1	1	5	4			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr1:196952162G>A	ENST00000367414.5	+	2	334	c.278G>A	c.(277-279)cGc>cAc	p.R93H	CFHR5_ENST00000256785.4_Missense_Mutation_p.R69H	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	69	Sushi 2.				complement activation, alternative pathway	extracellular region		p.R69H(1)		NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TTTTGGACTCGCATAACATGC	0.393													10	57					0	0	0.058154	0	0	A	196952162	G	A	196952162	3	1	125	1	0	0	0	0	1	0	0	0	3310	1087	38	1	212	1	CFHR5	1	196952162	Missense_Mutation	SNP	G	TCGA-G9-6348-01A-11D-1786-08	21865900	196952162	52298459	7	6235											
NRXN1	9378	broad.mit.edu	37	chr2	51255226	51255226	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagagcacgaggccgcgggcGctgcgagtcttgagctggaa	8	6	17	10	5	1	2	0	1	1	1	1	5	1	3	1	3	3	3	1	3	2	2			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr2:51255226G>A	ENST00000404971.1	-	2	1525	c.186C>T	c.(184-186)agC>agT	p.S62S	NRXN1_ENST00000405581.1_Silent_p.S62S|NRXN1_ENST00000406316.2_Silent_p.S62S|NRXN1_ENST00000405472.3_Silent_p.S62S|NRXN1_ENST00000401669.2_Silent_p.S62S|NRXN1_ENST00000402717.3_Silent_p.S62S|NRXN1_ENST00000406859.3_Silent_p.S62S	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	62	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.S62S(3)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GGCCGCGGGCGCTGCGAGTCT	0.662													4	10					0	0	0.014758	0	0	A	51255226	G	A	51255226	2	1	125	1	0	0	0	0	0	0	0	1	10713	1078	38	1		1	NRXN1	2	51255226	Silent	SNP	G	TCGA-G9-6348-01A-11D-1786-08		51255226	191944147	8	6236											
GALNT13	114805	broad.mit.edu	37	chr2	155099377	155099377	+	Frame_Shift_Del	DEL	A	A	-																															gcacactgtgaatgcacgttAggatggctggagcctttgct																										TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr2:155099377delA	ENST00000392825.3	+	6	1212	c.645delA	c.(643-645)ttfs	p.L215fs	GALNT13_ENST00000409237.1_Frame_Shift_Del_p.L215fs	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	215	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						AATGCACGTTAGGATGGCTGG	0.473													8	51	---	---	---	---						-	155099377	A	-	155099377	7	5	125	1	0	1	0	1	0	0	0	0	6251	417	15	0	659	0	GALNT13	2	155099377	Frame_Shift_Del	DEL	A	TCGA-G9-6348-01A-11D-1786-08	103844151	155099377	88099996	9	6237											
SCN9A	6335	broad.mit.edu	37	chr2	167142945	167142945	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtcctctgattctgatttCgacaatttctcagcatctcc	7	16	5	13	1	4	2	1	2	4	0	8	3	5	2	2	0	1	1	2	0	1	3			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr2:167142945C>T	ENST00000375387.4	-	11	1846	c.1506G>A	c.(1504-1506)tcG>tcA	p.S502S	SCN9A_ENST00000409435.1_Silent_p.S501S|SCN9A_ENST00000409672.1_Silent_p.S501S|SCN9A_ENST00000303354.6_Silent_p.S502S|AC010127.3_ENST00000447809.2_RNA			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	501						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.S501S(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	ATTCTGATTTCGACAATTTCT	0.428													7	194					0	0	0.038147	0	0	T	167142945	C	T	167142945	2	4	125	1	0	0	0	0	0	0	0	1	13979	871	31	1		1	SCN9A	2	167142945	Silent	SNP	C	TCGA-G9-6348-01A-11D-1786-08	12043568	167142945	76056428	10	6238											
SCN7A	6332	broad.mit.edu	37	chr2	167262810	167262810	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcagaccatttactgttgaaAattgcatcaagcatcccatc	13	12	5	11	0	2	2	2	1	0	1	4	2	3	2	2	0	3	3	2	0	4	4			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr2:167262810A>T	ENST00000409855.1	-	25	4455	c.4329T>A	c.(4327-4329)atT>atA	p.I1443I		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1443					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.I1443I(3)		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						TACTGTTGAAAATTGCATCAA	0.383													32	132					0	0	0.037714	0	0	T	167262810	A	T	167262810	2	4	125	1	0	0	0	0	0	0	0	1	13977	10	1	5		5	SCN7A	2	167262810	Silent	SNP	A	TCGA-G9-6348-01A-11D-1786-08	119865	167262810	75936563	11	6239											
CLASP2	23122	broad.mit.edu	37	chr3	33602330	33602330	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagggctttctgaacttttGcctgaacagatccaagcaaa	13	10	8	10	0	1	3	0	2	1	1	2	3	2	3	2	1	4	2	2	1	5	3			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr3:33602330G>C	ENST00000399362.4	-	28	3274	c.2921C>G	c.(2920-2922)gCa>gGa	p.A974G	CLASP2_ENST00000468888.2_Missense_Mutation_p.A975G|CLASP2_ENST00000539981.1_Missense_Mutation_p.A744G|CLASP2_ENST00000307312.7_Missense_Mutation_p.A456G|CLASP2_ENST00000461133.3_Missense_Mutation_p.A734G|CLASP2_ENST00000480013.1_Missense_Mutation_p.A754G|CLASP2_ENST00000359576.5_Missense_Mutation_p.A966G	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN	cytoplasmic linker associated protein 2	976								p.A967G(1)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						CTGAACTTTTGCCTGAACAGA	0.338													31	177					0	0	0.054565	0	0	C	33602330	G	C	33602330	3	2	125	1	0	0	0	0	1	0	0	0	3478	1319	46	4	1668	4	CLASP2	3	33602330	Missense_Mutation	SNP	G	TCGA-G9-6348-01A-11D-1786-08		33602330	164420100	12	6240											
EPHA3	2042	broad.mit.edu	37	chr3	89391103	89391103	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccctcgacagtttggactcaCcaacaccacggtgacagtga	11	7	9	14	2	1	2	1	2	0	0	2	4	1	3	3	2	1	1	3	2	1	1			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr3:89391103C>A	ENST00000336596.2	+	5	1394	c.1169C>A	c.(1168-1170)aCc>aAc	p.T390N	EPHA3_ENST00000452448.2_Missense_Mutation_p.T390N|EPHA3_ENST00000494014.1_Missense_Mutation_p.T390N	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	390	Fibronectin type-III 1.					extracellular region|integral to plasma membrane	ATP binding	p.T390N(2)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TTTGGACTCACCAACACCACG	0.478										TSP Lung(6;0.00050)			4	71					0.00909568	0.00999034	0.009096	1	0	A	89391103	C	A	89391103	3	1	125	1	0	0	0	0	1	0	0	0	5196	507	18	4	1187	4	EPHA3	3	89391103	Missense_Mutation	SNP	C	TCGA-G9-6348-01A-11D-1786-08	55788773	89391103	108631327	13	6241											
SORCS2	57537	broad.mit.edu	37	chr4	7728622	7728622	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggactccagggtcctccGtgtgctgggtaagtacttcc	6	10	13	12	1	0	0	0	0	0	0	4	1	4	1	4	3	2	4	4	3	2	3			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr4:7728622G>A	ENST00000507866.2	+	21	2970	c.2861G>A	c.(2860-2862)cGt>cAt	p.R954H	SORCS2_ENST00000329016.9_Missense_Mutation_p.R782H	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	954						integral to membrane	neuropeptide receptor activity	p.R804H(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						AGGGTCCTCCGTGTGCTGGGT	0.617													4	47					0	0	0.009096	0	0	A	7728622	G	A	7728622	3	1	125	1	0	0	0	0	1	0	0	0	14985	1145	40	1	2943	1	SORCS2	4	7728622	Missense_Mutation	SNP	G	TCGA-G9-6348-01A-11D-1786-08		7728622	183425654	14	6242											
TMPRSS11D	9407	broad.mit.edu	37	chr4	68719842	68719845	+	Frame_Shift_Del	DEL	ACTG	ACTG	-																															ctgtgtagctggtgaatttaActgactattatattcaacat																										TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr4:68719842_68719845delACTG	ENST00000283916.6	-	3	288_291	c.190_193delCAGT	c.(190-195)tafs	p.QL64fs	TMPRSS11D_ENST00000509584.1_5'UTR|RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000545541.1_5'UTR	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	64	SEA.				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.Q64*(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GGTGAATTTAACTGACTATTATAT	0.304													7	119	---	---	---	---						-	68719845	ACTG	-	68719842	7	5	125	1	0	1	0	1	0	0	0	0	16301	40	2	0	1095	0	TMPRSS11D	4	68719842	Frame_Shift_Del	DEL	ACTG	TCGA-G9-6348-01A-11D-1786-08	60991220	68719842	122434434	15	6243											
TLL1	7092	broad.mit.edu	37	chr4	166935656	166935656	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acgtcctgcaattggtcagcGaacccgtctaagcaaaggag	12	7	11	11	3	2	0	1	0	1	0	3	2	3	1	2	2	4	2	2	2	4	2			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr4:166935656G>A	ENST00000061240.2	+	8	1633	c.986G>A	c.(985-987)cGa>cAa	p.R329Q	TLL1_ENST00000507499.1_Missense_Mutation_p.R329Q|TLL1_ENST00000513213.1_Missense_Mutation_p.R329Q	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	329	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.R329Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		ATTGGTCAGCGAACCCGTCTA	0.458													11	247					0	0	0.069234	0	0	A	166935656	G	A	166935656	3	1	125	1	0	0	0	0	1	0	0	0	16005	1058	37	1	1016	1	TLL1	4	166935656	Missense_Mutation	SNP	G	TCGA-G9-6348-01A-11D-1786-08	98215814	166935656	24218620	16	6244											
ADAM29	11086	broad.mit.edu	37	chr4	175897858	175897858	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acagtacacacaaaggacatCtttaatgtgaagcgctgtgg	14	9	10	8	1	1	1	0	1	1	0	1	2	1	2	0	2	2	2	0	2	4	3			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr4:175897858C>T	ENST00000359240.3	+	5	1852	c.1182C>T	c.(1180-1182)atC>atT	p.I394I	ADAM29_ENST00000404450.4_Silent_p.I394I|ADAM29_ENST00000514159.1_Silent_p.I394I|ADAM29_ENST00000445694.1_Silent_p.I394I	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	394					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	p.I394I(2)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CAAAGGACATCTTTAATGTGA	0.393													28	129					0	0	0.030593	0	0	T	175897858	C	T	175897858	2	4	125	1	0	0	0	0	0	0	0	1	246	903	32	2		2	ADAM29	4	175897858	Silent	SNP	C	TCGA-G9-6348-01A-11D-1786-08	8962202	175897858	15256418	17	6245											
PPP2R2B	5521	broad.mit.edu	37	chr5	146017843	146017843	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgtcacacagggcagatGcccgcatgtcacacagccgg	9	5	12	15	2	2	1	2	0	0	1	2	1	2	1	3	2	2	2	3	2	0	0			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr5:146017843G>A	ENST00000394413.3	-	6	1331	c.761C>T	c.(760-762)gCa>gTa	p.A254V	PPP2R2B_ENST00000508545.2_Missense_Mutation_p.A243V|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.A254V|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.A260V|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.A257V|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.A243V|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.A254V|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.A320V|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.A312V|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.A254V			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	254					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	p.A257V(1)|p.A312V(1)		endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGGGCAGATGCCCGCATGTC	0.597													8	68					0	0	0.058154	0	0	A	146017843	G	A	146017843	3	1	125	1	0	0	0	0	1	0	0	0	12434	1319	46	2	586	2	PPP2R2B	5	146017843	Missense_Mutation	SNP	G	TCGA-G9-6348-01A-11D-1786-08		146017843	34897417	18	6246											
TMEM200A	114801	broad.mit.edu	37	chr6	130762197	130762197	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agattggcagcaaatacgatCgcctctttctcgggttttcg	8	13	10	10	4	2	1	0	0	2	1	5	2	2	1	1	2	2	3	1	2	2	5			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr6:130762197C>A	ENST00000392429.1	+	2	3008	c.630C>A	c.(628-630)atC>atA	p.I210I	TMEM200A_ENST00000296978.3_Silent_p.I210I|TMEM200A_ENST00000545622.1_Silent_p.I210I	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	210						integral to membrane		p.I210I(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		CAAATACGATCGCCTCTTTCT	0.468													3	38					0.004672	0.00521707	0.004672	1	0	A	130762197	C	A	130762197	2	1	125	1	0	0	0	0	0	0	0	1	16183	874	31	4		4	TMEM200A	6	130762197	Silent	SNP	C	TCGA-G9-6348-01A-11D-1786-08		130762197	40352870	19	6247											
MOXD1	26002	broad.mit.edu	37	chr6	132641814	132641814	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgttgtagcgacactcagtaAttaggttatctccctgaaac	11	13	8	9	1	2	1	1	1	1	0	3	2	2	1	1	1	2	4	1	1	5	5			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr6:132641814A>G	ENST00000367963.3	-	9	1437	c.1319T>C	c.(1318-1320)aTt>aCt	p.I440T	MOXD1_ENST00000489128.1_5'UTR|MOXD1_ENST00000336749.3_Missense_Mutation_p.I372T	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	440					catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity	p.I440T(1)|p.I372T(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		ACACTCAGTAATTAGGTTATC	0.308													6	24					0	0	0.021553	0	0	G	132641814	A	G	132641814	3	3	125	1	0	0	0	0	1	0	0	0	9769	101	4	3	538	3	MOXD1	6	132641814	Missense_Mutation	SNP	A	TCGA-G9-6348-01A-11D-1786-08	1879617	132641814	38473253	20	6248											
MLLT4	4301	broad.mit.edu	37	chr6	168297653	168297653	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggatgacaactctatccagGtacgtagtctgagcttcctg	9	12	10	10	1	2	2	0	2	2	0	4	3	4	3	2	2	3	3	2	2	4	4			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr6:168297653G>T	ENST00000366806.2	+	10	1459		c.e10+1		MLLT4_ENST00000351017.4_Splice_Site|MLLT4_ENST00000447894.2_Splice_Site|MLLT4_ENST00000344191.4_Splice_Site|MLLT4_ENST00000400822.3_Splice_Site|MLLT4_ENST00000392108.3_Splice_Site|MLLT4_ENST00000392112.1_Splice_Site			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4						adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	p.?(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CTCTATCCAGGTACGTAGTCT	0.433			T	MLL	AL								5	22					0.000602214	0.000695661	0.014758	1	0	T	168297653	G	T	168297653	5	4	125	1	0	0	0	0	0	0	1	0	9677	1275	44	4	1356	4	MLLT4	6	168297653	Splice_Site	SNP	G	TCGA-G9-6348-01A-11D-1786-08	35655839	168297653	2817414	21	6249											
GALNTL5	168391	broad.mit.edu	37	chr7	151664546	151664546	+	Missense_Mutation	SNP	G	G	A																															acctcatgtaatagtcaaaaGgactgatgaagataaagcaa																										TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr7:151664546G>A	ENST00000392800.2	+	2	469	c.215G>A	c.(214-216)aGg>aAg	p.R72K	GALNTL5_ENST00000431418.2_Missense_Mutation_p.R72K	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5	72						Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups	p.R72K(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		ATAGTCAAAAGGACTGATGAA	0.373													4	41					0	0	0.014758	0	0	A	151664546	G	A	151664546	3	1	125	1	0	0	0	0	1	0	0	0	6264	1000	35	2	217	2	GALNTL5	7	151664546	Missense_Mutation	SNP	G	TCGA-G9-6348-01A-11D-1786-08		151664546	7474117	22	6250	34	2									
GALNTL5	168391	broad.mit.edu	37	chr7	151664547	151664547	+	Missense_Mutation	SNP	G	G	C																															cctcatgtaatagtcaaaagGactgatgaagataaagcaaa																										TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr7:151664547G>C	ENST00000392800.2	+	2	470	c.216G>C	c.(214-216)agG>agC	p.R72S	GALNTL5_ENST00000431418.2_Missense_Mutation_p.R72S	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5	72						Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups	p.R72S(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		TAGTCAAAAGGACTGATGAAG	0.373													4	39					0	0	0.014758	0	0	C	151664547	G	C	151664547	3	2	125	1	0	0	0	0	1	0	0	0	6264	1165	41	4	218	4	GALNTL5	7	151664547	Missense_Mutation	SNP	G	TCGA-G9-6348-01A-11D-1786-08	1	151664547	7474116	23	6251	34	2									
DOCK5	80005	broad.mit.edu	37	chr8	25166414	25166414	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttgaataaagtgattgcaGcaaaggaagtgaatcacaaa	18	9	9	5	0	2	3	1	3	1	0	2	4	2	4	0	1	2	2	0	1	7	3			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr8:25166414G>A	ENST00000276440.7	+	12	1209	c.1165G>A	c.(1165-1167)Gca>Aca	p.A389T		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	389						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.A389T(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		AGTGATTGCAGCAAAGGAAGT	0.522													3	41					0	0	0.009096	0	0	A	25166414	G	A	25166414	3	1	125	1	0	0	0	0	1	0	0	0	4717	971	34	2	1211	2	DOCK5	8	25166414	Missense_Mutation	SNP	G	TCGA-G9-6348-01A-11D-1786-08		25166414	121197608	24	6252											
ZFHX4	79776	broad.mit.edu	37	chr8	77690474	77690474	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agcaagagggtgcagtgaatCccgaatcctgctattactac	12	9	10	10	1	0	2	0	1	0	1	2	3	2	2	2	1	5	3	2	1	6	3			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr8:77690474C>T	ENST00000521891.2	+	4	3572	c.3124C>T	c.(3124-3126)Ccc>Tcc	p.P1042S	ZFHX4_ENST00000455469.2_Missense_Mutation_p.P1016S|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P1016S|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P1016S|ZFHX4_ENST00000517683.1_3'UTR	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1016						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P1042S(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGCAGTGAATCCCGAATCCTG	0.483										HNSCC(33;0.089)			25	99					0	0	0.0918	0	0	T	77690474	C	T	77690474	3	4	125	1	0	0	0	0	1	0	0	0	17693	855	30	2	3134	2	ZFHX4	8	77690474	Missense_Mutation	SNP	C	TCGA-G9-6348-01A-11D-1786-08	52524060	77690474	68673548	25	6253											
KIAA1984	84960	broad.mit.edu	37	chr9	139701517	139701517	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccgggaggaggatatgatCggtacaggccccggaactgg	11	5	16	9	3	0	1	0	1	0	0	1	5	0	5	3	7	3	1	3	7	4	2			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr9:139701517C>A	ENST00000338005.6	+	13	1520	c.1486_splice	c.e13+1	p.I495_splice	KIAA1984-AS1_ENST00000414656.1_RNA	NM_001039374.4	NP_001034463.4	Q5T5S1	K1984_HUMAN	KIAA1984	495								p.I495I(1)		biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		AGGATATGATCGGTACAGGCC	0.642													3	43					0.004672	0.00521707	0.004672	1	0	A	139701517	C	A	139701517	5	1	125	1	0	0	0	0	0	0	1	0	8308	898	31	4	1535	4	KIAA1984	9	139701517	Splice_Site	SNP	C	TCGA-G9-6348-01A-11D-1786-08		139701517	1511914	26	6254											
GAD2	2572	broad.mit.edu	37	chr10	26575384	26575384	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttacagtgcggacgccaCgttgatgtttttaaactatg	9	13	10	9	3	0	1	0	1	0	0	0	2	0	2	2	1	3	2	2	1	4	6			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr10:26575384C>T	ENST00000376261.3	+	13	1850	c.1347C>T	c.(1345-1347)caC>caT	p.H449H	GAD2_ENST00000259271.3_Silent_p.H449H	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	449					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	p.H449H(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	GCGGACGCCACGTTGATGTTT	0.443													9	61					0	0	0.058154	0	0	T	26575384	C	T	26575384	2	4	125	1	0	0	0	0	0	0	0	1	6215	535	19	1		1	GAD2	10	26575384	Silent	SNP	C	TCGA-G9-6348-01A-11D-1786-08		26575384	108959363	27	6255											
LTBP3	4054	broad.mit.edu	37	chr11	65315007	65315007	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgcagaagccgccgtcgccGcacaggtggggcttggcgca	7	5	16	13	5	0	1	0	0	0	1	1	1	0	1	3	4	2	4	3	4	1	1			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr11:65315007G>A	ENST00000301873.5	-	14	2278	c.2010C>T	c.(2008-2010)tgC>tgT	p.C670C	LTBP3_ENST00000536982.1_Silent_p.C296C|LTBP3_ENST00000532932.1_Silent_p.C100C|LTBP3_ENST00000322147.4_Silent_p.C670C	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	670	Cys-rich.|EGF-like 5; calcium-binding (Potential).					extracellular region	calcium ion binding|growth factor binding	p.C670C(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						CGCCGTCGCCGCACAGGTGGG	0.657													5	118					0	0	0.021553	0	0	A	65315007	G	A	65315007	2	1	125	1	0	0	0	0	0	0	0	1	9120	1079	38	1		1	LTBP3	11	65315007	Silent	SNP	G	TCGA-G9-6348-01A-11D-1786-08		65315007	69691509	28	6256											
SLC37A4	2542	broad.mit.edu	37	chr11	118900037	118900037	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagcccccaaacatggctgAgaagatcacagtgcgataat	14	7	10	10	1	1	2	1	1	0	2	1	4	1	2	2	1	3	2	2	1	4	2			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr11:118900037A>C	ENST00000545985.1	-	3	799	c.43T>G	c.(43-45)Tca>Gca	p.S15A	SLC37A4_ENST00000330775.7_Missense_Mutation_p.S15A|SLC37A4_ENST00000357590.5_Missense_Mutation_p.S15A|SLC37A4_ENST00000525102.1_5'UTR|SLC37A4_ENST00000538950.1_Intron	NM_001164277.1|NM_001467.5	NP_001157749.1|NP_001458.1	O43826	G6PT1_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 4	15					glucose homeostasis|glucose metabolic process	endoplasmic reticulum membrane|integral to endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphate transmembrane transporter activity	p.S15A(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	6	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		AACATGGCTGAGAAGATCACA	0.517													4	24					0	0	0.014758	0	0	C	118900037	A	C	118900037	3	2	125	1	0	0	0	0	1	0	0	0	14655	304	11	5	1349	5	SLC37A4	11	118900037	Missense_Mutation	SNP	A	TCGA-G9-6348-01A-11D-1786-08	53585030	118900037	16106479	29	6257											
APPL2	55198	broad.mit.edu	37	chr12	105571030	105571030	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccttgatacttgagtctgtgGatctatcaacctgaaatttt	10	16	7	8	0	3	3	1	3	2	0	3	4	3	4	2	1	2	0	2	1	4	6			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr12:105571030G>A	ENST00000258530.3	-	18	1870	c.1645C>T	c.(1645-1647)Cca>Tca	p.P549S	APPL2_ENST00000551662.1_Missense_Mutation_p.P555S|APPL2_ENST00000539978.2_Missense_Mutation_p.P506S	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q8NEU8	DP13B_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	549	PID.				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding	p.P549S(1)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TGAGTCTGTGGATCTATCAAC	0.328													7	52					0	0	0.047766	0	0	A	105571030	G	A	105571030	3	1	125	1	0	0	0	0	1	0	0	0	815	1174	41	2	365	2	APPL2	12	105571030	Missense_Mutation	SNP	G	TCGA-G9-6348-01A-11D-1786-08		105571030	28280865	30	6258											
HERC2	8924	broad.mit.edu	37	chr15	28386775	28386775	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagtccagtcatctggtcGcctacaatacacatcaagtg	12	9	9	11	1	3	1	2	0	1	1	5	2	4	1	2	1	2	0	2	1	4	2	rs149707599	byFrequency	TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr15:28386775G>A	ENST00000261609.7	-	78	11926	c.11816_splice	c.e78-1	p.R3940_splice		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3940					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.R3940*(2)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TCATCTGGTCGCCTACAATAC	0.478													29	119					0	0	0.030593	0	0	A	28386775	G	A	28386775	5	1	125	1	0	0	0	0	0	0	1	0	7099	1101	38	1	2750	1	HERC2	15	28386775	Splice_Site	SNP	G	TCGA-G9-6348-01A-11D-1786-08		28386775	74144617	31	6259											
CA12	771	broad.mit.edu	37	chr15	63632619	63632619	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaagcagctcttcaatgttGaatcccgggacgaatgcttc	10	10	11	10	2	2	1	1	1	1	0	4	4	3	3	1	2	3	4	1	2	4	3			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr15:63632619G>A	ENST00000178638.3	-	7	1055	c.615C>T	c.(613-615)ttC>ttT	p.F205F	CA12_ENST00000422263.2_Silent_p.F145F|CA12_ENST00000344366.3_Silent_p.F205F	NM_001218.3	NP_001209.1	O43570	CAH12_HUMAN	carbonic anhydrase XII	205					one-carbon metabolic process	integral to membrane	carbonate dehydratase activity|zinc ion binding	p.F205F(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	16					Acetazolamide(DB00819)	CTTCAATGTTGAATCCCGGGA	0.562													5	58					0	0	0.021553	0	0	A	63632619	G	A	63632619	2	1	125	1	0	0	0	0	0	0	0	1	2531	1281	45	2		2	CA12	15	63632619	Silent	SNP	G	TCGA-G9-6348-01A-11D-1786-08	35245844	63632619	38898773	32	6260											
LRRC49	54839	broad.mit.edu	37	chr15	71329574	71329574	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaaaaacctggtattatcaAcgaagaaaataatgacagca	22	7	6	6	1	1	2	1	1	0	1	1	3	1	2	1	1	3	2	1	1	10	3			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr15:71329574A>G	ENST00000260382.5	+	15	2020	c.1760A>G	c.(1759-1761)aAc>aGc	p.N587S	LRRC49_ENST00000443425.2_Missense_Mutation_p.N543S|LRRC49_ENST00000560369.1_Missense_Mutation_p.N592S|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000544974.2_Missense_Mutation_p.N577S|LRRC49_ENST00000560691.1_Missense_Mutation_p.N293S|LRRC49_ENST00000560158.2_Missense_Mutation_p.N275S	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	587						cytoplasm|microtubule		p.N587S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						GGTATTATCAACGAAGAAAAT	0.318													4	114					0	0	0.009096	0	0	G	71329574	A	G	71329574	3	3	125	1	0	0	0	0	1	0	0	0	9051	43	2	3	1818	3	LRRC49	15	71329574	Missense_Mutation	SNP	A	TCGA-G9-6348-01A-11D-1786-08	7696955	71329574	31201818	33	6261											
IRX5	10265	broad.mit.edu	37	chr16	54966502	54966502	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtacccttacggggacccAgcgtaccggaagaacgccac	10	5	11	15	5	0	1	0	0	0	1	1	3	0	3	4	3	5	2	4	3	5	3			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr16:54966502A>G	ENST00000394636.4	+	2	679	c.342A>G	c.(340-342)ccA>ccG	p.P114P	IRX5_ENST00000320990.5_Silent_p.P114P|IRX5_ENST00000558597.1_Silent_p.P48P|IRX5_ENST00000560154.1_Intron			P78411	IRX5_HUMAN	iroquois homeobox 5	114					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding	p.P114P(1)		kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						ACGGGGACCCAGCGTACCGGA	0.657													17	81					0	0	0.0333	0	0	G	54966502	A	G	54966502	2	3	125	1	0	0	0	0	0	0	0	1	7891	175	7	3		3	IRX5	16	54966502	Silent	SNP	A	TCGA-G9-6348-01A-11D-1786-08		54966502	35388251	34	6262											
DNAH2	146754	broad.mit.edu	37	chr17	7690227	7690227	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctactcagatgagaaacccgAcgagaagtggatcctgttcg	12	8	11	10	3	1	3	1	1	0	3	3	7	2	4	2	1	2	1	2	1	3	2			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr17:7690227A>T	ENST00000572933.1	+	42	7939	c.6479A>T	c.(6478-6480)gAc>gTc	p.D2160V	DNAH2_ENST00000389173.2_Missense_Mutation_p.D2160V			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2160	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.D2160V(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GAGAAACCCGACGAGAAGTGG	0.567													11	45					0	0	0.105934	0	0	T	7690227	A	T	7690227	3	4	125	1	0	0	0	0	1	0	0	0	4630	275	10	5	6641	5	DNAH2	17	7690227	Missense_Mutation	SNP	A	TCGA-G9-6348-01A-11D-1786-08		7690227	73504983	35	6263											
MYH4	4622	broad.mit.edu	37	chr17	10355525	10355525	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggctgaagtggccccaccGgcttcttccagcctctcact	5	10	10	16	1	2	1	1	1	2	0	4	1	3	1	5	3	1	2	5	3	1	2			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr17:10355525G>A	ENST00000255381.2	-	27	3581	c.3471C>T	c.(3469-3471)gcC>gcT	p.A1157A	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1157					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.A1157A(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGGCCCCACCGGCTTCTTCCA	0.607													34	125					0	0	0.064281	0	0	A	10355525	G	A	10355525	2	1	125	1	0	0	0	0	0	0	0	1	10085	1103	39	1		1	MYH4	17	10355525	Silent	SNP	G	TCGA-G9-6348-01A-11D-1786-08	2665298	10355525	70839685	36	6264											
SLC4A1	6521	broad.mit.edu	37	chr17	42333173	42333173	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtttgggcaccatcaacacGttgtagttataagtcttctg	9	14	10	8	1	3	0	1	0	2	0	3	0	3	0	1	2	1	5	1	2	4	6			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr17:42333173G>A	ENST00000262418.6	-	14	1823	c.1668C>T	c.(1666-1668)aaC>aaT	p.N556N		NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	556	Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	p.N556N(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CCATCAACACGTTGTAGTTAT	0.532													25	131					0	0	0.034045	0	0	A	42333173	G	A	42333173	2	1	125	1	0	0	0	0	0	0	0	1	14705	1136	40	1		1	SLC4A1	17	42333173	Silent	SNP	G	TCGA-G9-6348-01A-11D-1786-08	31977648	42333173	38862037	37	6265											
HOXB3	3213	broad.mit.edu	37	chr17	46628435	46628435	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgcgcccgcttggacgccGccgaccccggggggctcttg	2	6	15	18	7	1	0	0	0	1	0	2	2	2	1	6	4	0	2	6	4	0	2			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr17:46628435G>T	ENST00000470495.1	-	2	2004	c.557C>A	c.(556-558)gCg>gAg	p.A186E	HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000460160.1_Missense_Mutation_p.A54E|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000490677.1_Missense_Mutation_p.A52E|HOXB3_ENST00000476342.1_Missense_Mutation_p.A186E|HOXB3_ENST00000472863.1_Missense_Mutation_p.A113E|HOXB3_ENST00000489475.1_Missense_Mutation_p.A113E|HOXB3_ENST00000485909.2_Missense_Mutation_p.A54E|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000498678.1_Missense_Mutation_p.A186E|HOXB3_ENST00000311626.4_Missense_Mutation_p.A186E|HOXB-AS3_ENST00000465846.2_RNA			P14651	HXB3_HUMAN	homeobox B3	186					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A186E(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						CTTGGACGCCGCCGACCCCGG	0.751													9	56					2.74318e-10	3.34169e-10	0.058154	1	0	T	46628435	G	T	46628435	3	4	125	1	0	0	0	0	1	0	0	0	7343	1087	38	4	742	4	HOXB3	17	46628435	Missense_Mutation	SNP	G	TCGA-G9-6348-01A-11D-1786-08	4295262	46628435	34566775	38	6266											
VEZF1	7716	broad.mit.edu	37	chr17	56060635	56060635	+	Frame_Shift_Del	DEL	T	T	-																															gtttctggtgcaccctgaggTttctgagttattggtattgg																										TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr17:56060635delT	ENST00000584396.1	-	2	214	c.126delA	c.(124-126)aafs	p.K42fs	VEZF1_ENST00000581208.1_Frame_Shift_Del_p.K51fs			Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	51					cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						CACCCTGAGGTTTCTGAGTTA	0.473													7	212	---	---	---	---						-	56060635	T	-	56060635	7	5	125	1	0	1	0	1	0	0	0	0	17215	1722	60	0	1432	0	VEZF1	17	56060635	Frame_Shift_Del	DEL	T	TCGA-G9-6348-01A-11D-1786-08	9432200	56060635	25134575	39	6267											
CSH2	1443	broad.mit.edu	37	chr17	61949662	61949662	+	Missense_Mutation	SNP	G	G	C																															cttgaggatctgcccagtccGgcggctgccgtcttccagcc																										TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr17:61949662G>C	ENST00000392886.2	-	5	629	c.478C>G	c.(478-480)Cgg>Ggg	p.R160G	CSH2_ENST00000345366.7_Missense_Mutation_p.R65G|CSH2_ENST00000336844.5_3'UTR|CSH2_ENST00000560142.1_Missense_Mutation_p.R103G	NM_020991.3	NP_066271.1	P01243	CSH_HUMAN	chorionic somatomammotropin hormone 2	160					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding	p.R160G(1)		endometrium(2)|large_intestine(1)|lung(3)	6						TGCCCAGTCCGGCGGCTGCCG	0.547													28	124					0	0	0.041601	0	0	C	61949662	G	C	61949662	3	2	125	1	0	0	0	0	1	0	0	0	3966	1115	39	4	179	4	CSH2	17	61949662	Missense_Mutation	SNP	G	TCGA-G9-6348-01A-11D-1786-08	5889027	61949662	19245548	40	6268	35	2									
CSH2	1443	broad.mit.edu	37	chr17	61949663	61949663	+	Silent	SNP	G	G	A																															ttgaggatctgcccagtccgGcggctgccgtcttccagcct																										TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr17:61949663G>A	ENST00000392886.2	-	5	628	c.477C>T	c.(475-477)cgC>cgT	p.R159R	CSH2_ENST00000345366.7_Silent_p.R64R|CSH2_ENST00000336844.5_3'UTR|CSH2_ENST00000560142.1_Silent_p.R102R	NM_020991.3	NP_066271.1	P01243	CSH_HUMAN	chorionic somatomammotropin hormone 2	159					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding	p.R159R(1)		endometrium(2)|large_intestine(1)|lung(3)	6						GCCCAGTCCGGCGGCTGCCGT	0.547													27	119					0	0	0.037714	0	0	A	61949663	G	A	61949663	2	1	125	1	0	0	0	0	0	0	0	1	3966	1190	42	2		2	CSH2	17	61949663	Silent	SNP	G	TCGA-G9-6348-01A-11D-1786-08	1	61949663	19245547	41	6269	35	2									
DSG2	1829	broad.mit.edu	37	chr18	29099853	29099853	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctggatcaccgcccccgtgGctcttcgggagggagaggat	6	7	15	13	3	2	1	1	0	1	1	3	5	2	4	4	5	0	1	4	5	0	1			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr18:29099853G>A	ENST00000261590.8	+	3	378	c.169G>A	c.(169-171)Gct>Act	p.A57T	DSG2_ENST00000585206.1_Missense_Mutation_p.A57T	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	57	Cadherin 1.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.A57T(1)		breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			CGCCCCCGTGGCTCTTCGGGA	0.453													15	70					0	0	0.043863	0	0	A	29099853	G	A	29099853	3	1	125	1	0	0	0	0	1	0	0	0	4803	1203	42	2	179	2	DSG2	18	29099853	Missense_Mutation	SNP	G	TCGA-G9-6348-01A-11D-1786-08		29099853	48977395	42	6270											
ZNF333	84449	broad.mit.edu	37	chr19	14829233	14829251	+	Frame_Shift_Del	DEL	CCTATGCATGTAACAAATG	CCTATGCATGTAACAAATG	-																															aatccgtagtggggataaatCctatgcatgtaacaaatgtg																										TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr19:14829233_14829251delCCTATGCATGTAACAAATG	ENST00000292530.6	+	12	1185_1203	c.1094_1112delCCTATGCATGTAACAAATG	c.(1093-1113)ttfs	p.SYACNKC365fs	ZNF333_ENST00000536363.1_Frame_Shift_Del_p.SYACNKC256fs|ZNF333_ENST00000540689.2_Intron	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	365					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						GGGGATAAATCCTATGCATGTAACAAATGTGAAAAATCC	0.438													8	67	---	---	---	---						-	14829251	CCTATGCATGTAACAAATG	-	14829233	7	5	125	1	0	1	0	1	0	0	0	0	17907	855	30	0	1136	0	ZNF333	19	14829233	Frame_Shift_Del	DEL	CCTATGCATGTAACAAATG	TCGA-G9-6348-01A-11D-1786-08		14829233	44299750	43	6271											
JUND	3727	broad.mit.edu	37	chr19	18391297	18391297	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcagcagctggcagccgctgTtgacgtggctgaggactttc	6	9	15	11	2	0	2	0	2	0	0	1	3	0	3	1	3	3	7	1	3	0	2			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr19:18391297T>C	ENST00000252818.3	-	1	1135	c.998A>G	c.(997-999)aAc>aGc	p.N333S		NM_005354.4	NP_005345.3	P17535	JUND_HUMAN	jun D proto-oncogene	333					regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.N289S(1)		lung(2)|prostate(1)	3						GCAGCCGCTGTTGACGTGGCT	0.706													5	9					0	0	0.014758	0	0	C	18391297	T	C	18391297	3	2	125	1	0	0	0	0	1	0	0	0	8015	1725	60	3	49	3	JUND	19	18391297	Missense_Mutation	SNP	T	TCGA-G9-6348-01A-11D-1786-08	3562064	18391297	40737686	44	6272											
SIGLEC9	27180	broad.mit.edu	37	chr19	51630484	51630484	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggtgcacctgagggatgcaGctgaattcacctgcagagct	9	8	14	10	0	1	3	1	2	0	1	1	4	1	4	2	2	5	5	2	2	1	1			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr19:51630484G>C	ENST00000440804.3	+	4	1013	c.946G>C	c.(946-948)Gct>Cct	p.A316P	SIGLEC9_ENST00000250360.3_Missense_Mutation_p.A316P	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	316	Ig-like C2-type 2.		A -> D (in dbSNP:rs273688).		cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	p.A316P(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		GAGGGATGCAGCTGAATTCAC	0.632													8	45					0	0	0.069234	0	0	C	51630484	G	C	51630484	3	2	125	1	0	0	0	0	1	0	0	0	14370	971	34	4	960	4	SIGLEC9	19	51630484	Missense_Mutation	SNP	G	TCGA-G9-6348-01A-11D-1786-08	33239187	51630484	7498499	45	6273											
PRKCG	5582	broad.mit.edu	37	chr19	54387493	54387493	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgggaagggcccccagaCggacgtgagtgctcggacac	8	4	16	13	4	0	2	0	1	0	1	1	5	0	5	2	4	1	2	2	4	1	0			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr19:54387493C>T	ENST00000263431.3	+	3	563	c.281C>T	c.(280-282)aCg>aTg	p.T94M	PRKCG_ENST00000542049.1_Silent_p.D18D|PRKCG_ENST00000540413.1_Missense_Mutation_p.T94M|PRKCG_ENST00000536044.1_Missense_Mutation_p.T94M	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	94					activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		GGCCCCCAGACGGACGTGAGT	0.577													14	67					0	0	0.020292	0	0	T	54387493	C	T	54387493	3	4	125	1	0	0	0	0	1	0	0	0	12564	536	19	1	291	1	PRKCG	19	54387493	Missense_Mutation	SNP	C	TCGA-G9-6348-01A-11D-1786-08	2757009	54387493	4741490	46	6274											
ZNF749	388567	broad.mit.edu	37	chr19	57956721	57956721	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtgggaaagacttcaacaaAtgtaatactggtcagcgcca	14	9	10	8	1	2	1	2	0	0	1	2	2	2	2	1	2	3	1	1	2	5	3			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr19:57956721A>C	ENST00000334181.4	+	3	2455	c.2205A>C	c.(2203-2205)aaA>aaC	p.K735N	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	735					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K735N(1)|p.K648N(1)		breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		ACTTCAACAAATGTAATACTG	0.398													18	89					0	0	0.049695	0	0	C	57956721	A	C	57956721	3	2	125	1	0	0	0	0	1	0	0	0	18181	98	4	5	2215	5	ZNF749	19	57956721	Missense_Mutation	SNP	A	TCGA-G9-6348-01A-11D-1786-08	3569228	57956721	1172262	47	6275											
TUBB1	81027	broad.mit.edu	37	chr20	57598857	57598857	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtggtgaggcacgagagtgaGagctgtgactgcctgcaggg	8	7	19	7	1	0	4	0	3	0	2	0	6	0	4	1	3	3	3	1	3	0	0			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr20:57598857G>C	ENST00000217133.1	+	4	644	c.375G>C	c.(373-375)gaG>gaC	p.E125D		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	125					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity	p.E125D(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	ACGAGAGTGAGAGCTGTGACT	0.602													19	108					0	0	0.049695	0	0	C	57598857	G	C	57598857	3	2	125	1	0	0	0	0	1	0	0	0	16815	933	33	4	389	4	TUBB1	20	57598857	Missense_Mutation	SNP	G	TCGA-G9-6348-01A-11D-1786-08		57598857	5426663	48	6276											
PACSIN2	11252	broad.mit.edu	37	chr22	43267420	43267420	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaacttgcccgttgtccaaGcgtcccttgcaccagccctg	6	9	8	18	2	0	0	0	0	0	0	2	0	2	0	6	0	5	2	6	0	2	3			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chr22:43267420G>A	ENST00000263246.3	-	11	1605	c.1404C>T	c.(1402-1404)cgC>cgT	p.R468R	PACSIN2_ENST00000407585.1_Silent_p.R427R|PACSIN2_ENST00000402229.1_Silent_p.R468R|PACSIN2_ENST00000496919.1_Intron|PACSIN2_ENST00000403744.3_Silent_p.R468R|PACSIN2_ENST00000337959.4_Silent_p.R427R	NM_001184970.1	NP_001171899.1	Q9UNF0	PACN2_HUMAN	protein kinase C and casein kinase substrate in neurons 2	468	SH3.				actin cytoskeleton organization|endocytosis	cytoplasmic membrane-bounded vesicle	transporter activity	p.R468R(1)		NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	19		Glioma(61;0.222)				CGTTGTCCAAGCGTCCCTTGC	0.622													10	45					0	0	0.080935	0	0	A	43267420	G	A	43267420	2	1	125	1	0	0	0	0	0	0	0	1	11422	958	34	2		2	PACSIN2	22	43267420	Silent	SNP	G	TCGA-G9-6348-01A-11D-1786-08		43267420	8037146	49	6277											
DMD	1756	broad.mit.edu	37	chrX	32536160	32536160	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	taagtctgagaagttgccttCcttccgaaagattgcaaatt	12	13	8	8	1	1	2	0	1	1	2	3	4	3	2	3	0	2	2	3	0	4	6			TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chrX:32536160C>T	ENST00000357033.4	-	18	2463	c.2257G>A	c.(2257-2259)Gaa>Aaa	p.E753K	DMD_ENST00000288447.4_Missense_Mutation_p.E745K|DMD_ENST00000378677.2_Missense_Mutation_p.E749K	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	753					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.E749K(2)|p.E748K(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AAGTTGCCTTCCTTCCGAAAG	0.383													12	18					0	0	0.080935	0	0	T	32536160	C	T	32536160	3	4	125	1	0	0	0	0	1	0	0	0	4608	864	30	2	9291	2	DMD	23	32536160	Missense_Mutation	SNP	C	TCGA-G9-6348-01A-11D-1786-08		32536160	122734400	50	6278											
GAGE2D	729408	broad.mit.edu	37	chrX	49208295	49208296	+	In_Frame_Ins	INS	-	-	TAT																															gttggcgaggaagatcgaccINStatcggcctagaccaagacg																										TCGA-G9-6348-01A-11D-1786-08	TCGA-G9-6348-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	663c2f26-4e49-4752-bde5-fb5e9229daf9	e6ab50da-966a-4429-95c9-36e22d269e25	g.chrX:49208295_49208296insTAT	ENST00000404720.2	+	2	96_97	c.24_25insTAT	c.(22-27)acatcg>acTATatcg	p.8_9TS>TIS		NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1			G antigen 2D																		GAAGATCGACCTATCGGCCTAG	0.465													7	18	---	---	---	---						TAT	49208296	-	TAT	49208295	7	5	125	1	0	1	1	0	0	0	0	0	6229	668	24	0	366	0	GAGE2D	23	49208295	In_Frame_Ins	INS	-	TCGA-G9-6348-01A-11D-1786-08	16672135	49208295	106062265	51	6279											
CHD1L	9557	broad.mit.edu	37	chr1	146765330	146765330	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcatcgtgatcgttccaaTgtcctgtctggcattaagat	9	13	9	10	2	1	2	0	1	1	1	5	2	3	2	2	1	1	3	2	1	2	2			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:146765330T>C	ENST00000369258.4	+	21	2450	c.2430T>C	c.(2428-2430)aaT>aaC	p.N810N	CHD1L_ENST00000361293.5_Silent_p.N529N|CHD1L_ENST00000431239.1_Silent_p.N716N|CHD1L_ENST00000369259.3_Silent_p.N606N|CHD1L_ENST00000467213.1_3'UTR	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	810	Macro.				chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					ATCGTTCCAATGTCCTGTCTG	0.463													26	151					0	0	0.000339439	0	0	C	146765330	T	C	146765330	2	2	126	1	0	0	0	0	0	0	0	1	3346	1461	51	3		3	CHD1L	1	146765330	Silent	SNP	T	TCGA-G9-6351-01A-21D-1961-08		146765330	102485291	1	6280											
FLG2	388698	broad.mit.edu	37	chr1	152329418	152329418	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acacccacttgaattgctatAaccacatgcatgacttcgcc	12	10	5	14	1	0	2	0	2	0	0	1	2	0	2	3	0	3	2	3	0	3	5			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:152329418A>T	ENST00000388718.5	-	3	916	c.844T>A	c.(844-846)Tat>Aat	p.Y282N	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	282	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAATTGCTATAACCACATGCA	0.428													33	157					0	0	0.000814825	0	0	T	152329418	A	T	152329418	3	4	126	1	0	0	0	0	1	0	0	0	5956	362	13	5	6335	5	FLG2	1	152329418	Missense_Mutation	SNP	A	TCGA-G9-6351-01A-21D-1961-08	5564088	152329418	96921203	2	6281											
SPRR2G	0	broad.mit.edu	37	chr1	153122527	153122527	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggctctgggcactttggCgtggggcacacaggaggtgg	6	8	18	9	1	1	0	0	0	1	0	1	1	1	1	0	8	0	3	0	8	0	1			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr1:153122527C>T	ENST00000368748.4	-	2	98	c.60G>A	c.(58-60)acG>acA	p.T20T		NM_001014291.3	NP_001014313.1	Q9BYE4	SPR2G_HUMAN	small proline-rich protein 2G	20					keratinization	cornified envelope|cytoplasm				endometrium(1)|lung(1)|skin(1)	3	all_lung(78;1.78e-30)|Lung NSC(65;7.29e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGCACTTTGGCGTGGGGCACA	0.577													13	122					0	0	0.000151284	0	0	T	153122527	C	T	153122527	2	4	126	1	0	0	0	0	0	0	0	1	15158	755	27	1		1	SPRR2G	1	153122527	Silent	SNP	C	TCGA-G9-6351-01A-21D-1961-08	793109	153122527	96128094	3	6282											
REG3G	130120	broad.mit.edu	37	chr2	79253898	79253898	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctgtcccaaaggctccaagGcctatggctccccctgctat	7	9	9	16	0	0	0	0	0	0	0	3	0	3	0	5	3	1	4	5	3	4	2			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr2:79253898G>T	ENST00000272324.5	+	3	320	c.136G>T	c.(136-138)Gcc>Tcc	p.A46S	REG3G_ENST00000409471.1_Missense_Mutation_p.A46S|REG3G_ENST00000393897.2_Missense_Mutation_p.A46S	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	46					acute-phase response	extracellular region	sugar binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGGCTCCAAGGCCTATGGCTC	0.512													12	58					1.49906e-05	0.00029138	0.000219431	1	0	T	79253898	G	T	79253898	3	4	126	1	0	0	0	0	1	0	0	0	13265	1203	42	4	142	4	REG3G	2	79253898	Missense_Mutation	SNP	G	TCGA-G9-6351-01A-21D-1961-08		79253898	163945475	4	6283											
CXCL9	4283	broad.mit.edu	37	chr4	76924788	76924788	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacgagaacgttgagattttCgaactttcagaactttcttt	11	15	8	7	3	2	3	1	1	1	3	3	7	2	3	0	0	3	1	0	0	3	6	rs139830877		TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr4:76924788C>T	ENST00000264888.5	-	4	379	c.341G>A	c.(340-342)cGa>cAa	p.R114Q	RP11-630D6.5_ENST00000501239.2_RNA	NM_002416.1	NP_002407.1	Q07325	CXCL9_HUMAN	chemokine (C-X-C motif) ligand 9	114					cell-cell signaling|cellular defense response|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response	extracellular space	chemokine activity	p.R114Q(1)		large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(1)	11			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TTGAGATTTTCGAACTTTCAG	0.338													7	88					0	0	0.000442599	0	0	T	76924788	C	T	76924788	3	4	126	1	0	0	0	0	1	0	0	0	4112	884	31	1	40	1	CXCL9	4	76924788	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08		76924788	114229488	5	6284											
CDH6	1004	broad.mit.edu	37	chr5	31323130	31323130	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agggacattgtgcccgaagcCcttttcctaccccgacggac	8	8	10	15	3	0	0	0	0	0	0	1	4	1	2	5	2	3	0	5	2	2	4			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr5:31323130C>A	ENST00000265071.2	+	12	2353	c.2088C>A	c.(2086-2088)gcC>gcA	p.A696A		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	696					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TGCCCGAAGCCCTTTTCCTAC	0.522													9	60					3.07112e-06	6.36745e-05	0.000978159	1	0	A	31323130	C	A	31323130	2	1	126	1	0	0	0	0	0	0	0	1	3136	610	22	4		4	CDH6	5	31323130	Silent	SNP	C	TCGA-G9-6351-01A-21D-1961-08		31323130	149592130	6	6285											
FBXL17	64839	broad.mit.edu	37	chr5	107216868	107216868	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgtcatgctgtatcgcccaAtggctatcagtgctgcaaga	9	12	10	10	1	2	1	2	0	0	1	3	1	2	1	1	1	3	5	1	1	4	3			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr5:107216868A>G	ENST00000542267.1	-	8	2241	c.1835T>C	c.(1834-1836)aTt>aCt	p.I612T	FBXL17_ENST00000359660.5_Missense_Mutation_p.I214T|FBXL17_ENST00000496714.1_Missense_Mutation_p.I214T	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17	612										endometrium(1)|large_intestine(4)|lung(1)	6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		GTATCGCCCAATGGCTATCAG	0.453													24	103					0	0	0.000878237	0	0	G	107216868	A	G	107216868	3	3	126	1	0	0	0	0	1	0	0	0	5746	101	4	3	278	3	FBXL17	5	107216868	Missense_Mutation	SNP	A	TCGA-G9-6351-01A-21D-1961-08	75893738	107216868	73698392	7	6286											
PCDHA1	0	broad.mit.edu	37	chr5	140166008	140166008	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagccaaacacggcaccttcGttggccgcgttgctcaggac	9	7	11	14	4	1	0	1	0	0	0	2	1	1	1	3	3	3	4	3	3	2	3			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr5:140166008G>A	ENST00000504120.2	+	1	133	c.133G>A	c.(133-135)Gtt>Att	p.V45I	PCDHA1_ENST00000394633.3_Missense_Mutation_p.V45I|PCDHA1_ENST00000378133.3_Missense_Mutation_p.V45I	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGCACCTTCGTTGGCCGCGT	0.637													20	64					0	0	0.000295444	0	0	A	140166008	G	A	140166008	3	1	126	1	0	0	0	0	1	0	0	0	11566	1145	40	1	135	1	PCDHA1	5	140166008	Missense_Mutation	SNP	G	TCGA-G9-6351-01A-21D-1961-08	32949140	140166008	40749252	8	6287											
PCDHB10	0	broad.mit.edu	37	chr5	140572969	140572969	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cggaagtatcctattcatttTttgatgcctcagaaaatatt	12	16	6	7	1	2	2	2	1	0	1	3	3	3	3	2	1	1	1	2	1	6	8	rs143726447	byFrequency	TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr5:140572969T>G	ENST00000239446.4	+	1	1028	c.844T>G	c.(844-846)Ttt>Gtt	p.F282V		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		282	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTATTCATTTTTTGATGCCTC	0.393													12	58					0	0	0.000151284	0	0	G	140572969	T	G	140572969	3	3	126	1	0	0	0	0	1	0	0	0	11582	1841	64	5	846	5	PCDHB10	5	140572969	Missense_Mutation	SNP	T	TCGA-G9-6351-01A-21D-1961-08	406961	140572969	40342291	9	6288											
BAI3	577	broad.mit.edu	37	chr6	70071267	70071267	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaacttagagcaacatctcGcaccccaggaacatatgcag	14	7	8	12	1	1	2	0	1	1	1	2	3	1	3	2	1	5	3	2	1	5	2			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:70071267G>A	ENST00000370598.1	+	29	4923	c.4102G>A	c.(4102-4104)Gca>Aca	p.A1368T	BAI3_ENST00000546190.1_Missense_Mutation_p.A332T|BAI3_ENST00000238918.8_Missense_Mutation_p.A574T	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1368					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GCAACATCTCGCACCCCAGGA	0.438													29	155					0	0	0.000409698	0	0	A	70071267	G	A	70071267	3	1	126	1	0	0	0	0	1	0	0	0	1298	1087	38	1	4208	1	BAI3	6	70071267	Missense_Mutation	SNP	G	TCGA-G9-6351-01A-21D-1961-08		70071267	101043800	10	6289											
OLIG3	167826	broad.mit.edu	37	chr6	137815210	137815212	+	In_Frame_Del	DEL	TGG	TGG	-																															ccgagttgagacggctctccTggtggtggtggtggcggtgg																										TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr6:137815210_137815212delTGG	ENST00000367734.2	-	1	319_321	c.96_98delCCA	c.(94-99)cag>ca	p.HQ32del		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	32	Poly-His.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.Q33K(1)		endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		ACGGCTCTCCtggtggtggtggt	0.596													8	124	---	---	---	---						-	137815212	TGG	-	137815210	7	5	126	1	0	1	0	1	0	0	0	0	10910	1580	55	0	724	0	OLIG3	6	137815210	In_Frame_Del	DEL	TGG	TCGA-G9-6351-01A-21D-1961-08	67743943	137815210	33299857	11	6290											
SVEP1	79987	broad.mit.edu	37	chr9	113166722	113166722	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtatatgtgttatgttttccGggagaggacattttttagga	9	17	12	3	1	0	1	0	0	0	1	1	4	1	3	1	3	0	3	1	3	4	8			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr9:113166722G>A	ENST00000401783.2	-	39	9887	c.9551C>T	c.(9550-9552)cCg>cTg	p.P3184L	SVEP1_ENST00000297826.5_Missense_Mutation_p.P1110L|SVEP1_ENST00000374469.1_Missense_Mutation_p.P3161L	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3184	Sushi 30.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	p.P3187Q(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TATGTTTTCCGGGAGAGGACA	0.433													57	314					0	0	0.000781405	0	0	A	113166722	G	A	113166722	3	1	126	1	0	0	0	0	1	0	0	0	15476	1116	39	1	1204	1	SVEP1	9	113166722	Missense_Mutation	SNP	G	TCGA-G9-6351-01A-21D-1961-08		113166722	28046709	12	6291											
HEPHL1	341208	broad.mit.edu	37	chr11	93796817	93796817	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcctgacctgggtgtacCattcgcacatcgacgcccca	8	8	9	16	3	0	1	0	1	0	0	2	2	0	1	5	1	2	2	5	1	1	2			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr11:93796817C>A	ENST00000315765.9	+	3	567	c.559C>A	c.(559-561)Cat>Aat	p.H187N		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	187	Plastocyanin-like 1.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CTGGGTGTACCATTCGCACAT	0.542													21	112					8.34094e-07	1.78899e-05	0.000132079	1	0	A	93796817	C	A	93796817	3	1	126	1	0	0	0	0	1	0	0	0	7096	594	21	4	569	4	HEPHL1	11	93796817	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08		93796817	41209699	13	6292											
UTP14C	9724	broad.mit.edu	37	chr13	52603217	52603217	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgcagatctgcttgagcccGttaaaacttcatcttctttg	8	16	7	10	1	4	2	1	1	3	1	4	2	4	2	1	0	4	3	1	0	2	6			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr13:52603217G>A	ENST00000521776.2	+	2	1010	c.277G>A	c.(277-279)Gtt>Att	p.V93I	ALG11_ENST00000521508.1_3'UTR|ALG11_ENST00000523764.1_3'UTR	NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	93					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		GCTTGAGCCCGTTAAAACTTC	0.423													21	117					0	0	0.000175454	0	0	A	52603217	G	A	52603217	3	1	126	1	0	0	0	0	1	0	0	0	17156	1145	40	1	279	1	UTP14C	13	52603217	Missense_Mutation	SNP	G	TCGA-G9-6351-01A-21D-1961-08		52603217	62566661	14	6293											
RNF113B	140432	broad.mit.edu	37	chr13	98829414	98829414	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcctgcagcccctttccgtCcaggctttttgaagaggaag	7	10	12	12	1	0	2	0	1	0	1	2	3	2	3	5	3	2	2	5	3	2	3			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr13:98829414C>A	ENST00000267291.6	-	1	105	c.77G>T	c.(76-78)gGa>gTa	p.G26V	FARP1_ENST00000595437.1_Intron|FARP1_ENST00000376581.5_Intron|FARP1_ENST00000376586.2_Intron|FARP1_ENST00000319562.6_Intron	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	ring finger protein 113B	26							nucleic acid binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			CCCTTTCCGTCCAGGCTTTTT	0.647													5	49					3.59834e-05	0.000678232	3.59834e-05	1	0	A	98829414	C	A	98829414	3	1	126	1	0	0	0	0	1	0	0	0	13480	855	30	4	899	4	RNF113B	13	98829414	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	46226197	98829414	16340464	15	6294											
FOXA1	3169	broad.mit.edu	37	chr14	38061705	38061705	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcacgccggccgcagtcatgCtgttcatggcgcccgccgag	5	7	13	16	6	3	0	3	0	0	0	3	1	3	0	4	2	1	3	4	2	0	1			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr14:38061705C>G	ENST00000250448.2	-	2	345	c.284G>C	c.(283-285)aGc>aCc	p.S95T	FOXA1_ENST00000540786.1_Missense_Mutation_p.S62T|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	95					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		CGCAGTCATGCTGTTCATGGC	0.721													12	35					0	0	0.00010058	0	0	G	38061705	C	G	38061705	3	3	126	1	0	0	0	0	1	0	0	0	6022	797	28	4	1138	4	FOXA1	14	38061705	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08		38061705	69287835	16	6295											
PRC1	9055	broad.mit.edu	37	chr15	91524744	91524744	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtacctgccgtagcaacttTtgtagtgttgcaatattctc	9	15	8	9	1	1	0	0	0	1	0	2	0	1	0	2	0	5	6	2	0	6	8			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr15:91524744T>C	ENST00000361188.5	-	5	1868	c.657A>G	c.(655-657)caA>caG	p.Q219Q	PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000394249.3_Silent_p.Q219Q|PRC1_ENST00000361919.3_Silent_p.Q219Q|PRC1_ENST00000442656.2_Silent_p.Q178Q			O43663	PRC1_HUMAN	protein regulator of cytokinesis 1	219	Dimerization.				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					GTAGCAACTTTTGTAGTGTTG	0.408													4	57					0	0	3.59834e-05	0	0	C	91524744	T	C	91524744	2	2	126	1	0	0	0	0	0	0	0	1	12498	1838	64	3		3	PRC1	15	91524744	Silent	SNP	T	TCGA-G9-6351-01A-21D-1961-08		91524744	11006648	17	6296											
GRIN2A	0	broad.mit.edu	37	chr16	10032075	10032075	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatccagaagaaatcataccCggtgaggccaagggagcggg	14	4	14	9	2	1	3	1	1	0	2	2	4	2	4	3	4	2	0	3	4	5	1			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr16:10032075C>T	ENST00000396573.2	-	4	1057	c.748G>A	c.(748-750)Ggg>Agg	p.G250R	GRIN2A_ENST00000396575.2_Missense_Mutation_p.G250R|GRIN2A_ENST00000330684.3_Missense_Mutation_p.G250R|GRIN2A_ENST00000566670.1_5'UTR|GRIN2A_ENST00000535259.1_Missense_Mutation_p.G93R|GRIN2A_ENST00000404927.2_Missense_Mutation_p.G250R|GRIN2A_ENST00000562109.1_Missense_Mutation_p.G250R	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	250					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AAATCATACCCGGTGAGGCCA	0.512													9	71					0	0	0.000673444	0	0	T	10032075	C	T	10032075	3	4	126	1	0	0	0	0	1	0	0	0	6820	652	23	1	3690	1	GRIN2A	16	10032075	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08		10032075	80322678	18	6297											
DHX33	56919	broad.mit.edu	37	chr17	5366889	5366889	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttctcatctgagactctaGtagcaagagagatggcagct	11	11	10	9	0	4	3	1	1	4	3	5	5	4	3	0	1	2	4	0	1	3	3			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:5366889G>C	ENST00000225296.3	-	2	610	c.410C>G	c.(409-411)aCt>aGt	p.T137S	DHX33_ENST00000433302.3_Intron	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	137	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TGAGACTCTAGTAGCAAGAGA	0.512													3	157					0	0	0.00024832	0	0	C	5366889	G	C	5366889	3	2	126	1	0	0	0	0	1	0	0	0	4534	1029	36	4	1757	4	DHX33	17	5366889	Missense_Mutation	SNP	G	TCGA-G9-6351-01A-21D-1961-08		5366889	75828321	19	6298											
ZNF287	57336	broad.mit.edu	37	chr17	16467045	16467045	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttccaatagttctgtaacGtcacagtcttgtataattcc	10	16	6	9	1	3	0	1	0	2	0	5	0	5	0	2	0	1	4	2	0	5	8			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr17:16467045G>A	ENST00000395824.1	-	4	1213	c.596C>T	c.(595-597)aCg>aTg	p.T199M	ZNF287_ENST00000395825.3_Missense_Mutation_p.T199M			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	192	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		GTTCTGTAACGTCACAGTCTT	0.458													23	58					0	0	0.000229342	0	0	A	16467045	G	A	16467045	3	1	126	1	0	0	0	0	1	0	0	0	17882	1145	40	1	1701	1	ZNF287	17	16467045	Missense_Mutation	SNP	G	TCGA-G9-6351-01A-21D-1961-08	11100156	16467045	64728165	20	6299											
CYP4F11	57834	broad.mit.edu	37	chr19	16040400	16040400	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtcttcatgccctcttcCgtgggagtgacctgaaaaca	10	11	9	11	1	3	2	1	2	2	0	4	3	4	3	3	1	2	0	3	1	3	2			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr19:16040400C>A	ENST00000326742.7	-	2	211	c.210G>T	c.(208-210)acG>acT	p.T70T	CYP4F11_ENST00000402119.3_Silent_p.T70T|CYP4F11_ENST00000248041.7_Silent_p.T70T			Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11	70					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						TGCCCTCTTCCGTGGGAGTGA	0.517													8	128					0.000157383	0.00287919	0.000157383	1	0	A	16040400	C	A	16040400	2	1	126	1	0	0	0	0	0	0	0	1	4209	639	23	4		4	CYP4F11	19	16040400	Silent	SNP	C	TCGA-G9-6351-01A-21D-1961-08		16040400	43088583	21	6300											
LILRB5	0	broad.mit.edu	37	chr19	54754843	54754843	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaacgtggtgggggtggggAggcctgggggcctggagagg	5	5	26	5	1	0	1	0	0	0	1	0	4	0	3	2	11	1	0	2	11	1	0			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr19:54754843A>G	ENST00000450632.1	-	13	1869	c.1792T>C	c.(1792-1794)Tcc>Ccc	p.S598P	LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000345866.6_Intron			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	423					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGGGTGGGGAGGCCTGGGGG	0.607													4	48					0	0	0.000157383	0	0	G	54754843	A	G	54754843	3	3	126	1	0	0	0	0	1	0	0	0	8834	319	11	3		3	LILRB5	19	54754843	Missense_Mutation	SNP	A	TCGA-G9-6351-01A-21D-1961-08	38714443	54754843	4374140	22	6301											
TMPRSS2	0	broad.mit.edu	37	chr21	42839793	42839793	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atattgttcttcgaagtgacCagaggccctccactgtcacc	9	11	8	13	1	2	2	1	1	1	1	4	3	3	2	4	1	0	1	4	1	2	4			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr21:42839793C>T	ENST00000398585.3	-	13	1506	c.1446G>A	c.(1444-1446)ctG>ctA	p.L482L	TMPRSS2_ENST00000458356.1_Silent_p.L445L|TMPRSS2_ENST00000332149.5_Silent_p.L445L	NM_001135099.1	NP_001128571.1	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	445	Peptidase S1.				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				TCGAAGTGACCAGAGGCCCTC	0.532			T	"ERG, ETV1, ETV4, ETV5"	prostate								8	78					0	0	0.000157383	0	0	T	42839793	C	T	42839793	2	4	126	1	0	0	0	0	0	0	0	1	16307	581	21	2		2	TMPRSS2	21	42839793	Silent	SNP	C	TCGA-G9-6351-01A-21D-1961-08		42839793	5290102	23	6302											
SMCR7L	0	broad.mit.edu	37	chr22	39910032	39910032	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgatctctgtgcctcaagAtcctcaaggccatatgcaag	10	9	9	13	1	3	1	2	0	1	1	5	2	4	1	4	1	2	1	4	1	4	1			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chr22:39910032A>T	ENST00000325301.2	+	6	1520	c.1096A>T	c.(1096-1098)Atc>Ttc	p.I366F	SMCR7L_ENST00000404569.1_Missense_Mutation_p.I366F|SMCR7L_ENST00000402881.1_Missense_Mutation_p.I366F	NM_019008.4	NP_061881.2	Q9NQG6	SMC7L_HUMAN		366						integral to membrane|mitochondrion				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)	16	Melanoma(58;0.04)					GTGCCTCAAGATCCTCAAGGC	0.642											OREG0026577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	74					0	0	0.000566183	0	0	T	39910032	A	T	39910032	3	4	126	1	0	0	0	0	1	0	0	0	14845	333	12	5	1110	5	SMCR7L	22	39910032	Missense_Mutation	SNP	A	TCGA-G9-6351-01A-21D-1961-08		39910032	11394534	24	6303											
SHOX	6473	broad.mit.edu	37	chrX	591826	591826	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcacggagggcggcggccActgcccggtgcatttgttca	6	8	14	13	4	2	0	2	0	0	0	2	1	2	1	2	5	2	2	2	5	0	2			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chrX:591826A>T	ENST00000381578.1	+	2	885	c.194A>T	c.(193-195)cAc>cTc	p.H65L	SHOX_ENST00000334060.3_Missense_Mutation_p.H65L|SHOX_ENST00000381575.1_Missense_Mutation_p.H65L|SHOX_ENST00000554971.1_Missense_Mutation_p.H65L	NM_000451.3	NP_000442.1	O15266	SHOX_HUMAN	short stature homeobox	65					skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|lung(9)|prostate(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGCGGCGGCCACTGCCCGGTG	0.587													22	141					0	0	0.000295444	0	0	T	591826	A	T	591826	3	4	126	1	0	0	0	0	1	0	0	0	14343	159	6	5	196	5	SHOX	23	591826	Missense_Mutation	SNP	A	TCGA-G9-6351-01A-21D-1961-08		591826	154678734	25	6304											
RGAG4	340526	broad.mit.edu	37	chrX	71349790	71349790	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttgtcctaaacgacctgtgCggcgaatcagttggggggag	8	9	16	8	3	1	0	1	0	0	0	2	3	2	1	2	4	2	2	2	4	3	3			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chrX:71349790C>T	ENST00000545866.1	-	1	1968	c.1601G>A	c.(1600-1602)cGc>cAc	p.R534H	RGAG4_ENST00000479991.1_Missense_Mutation_p.R534H|NHSL2_ENST00000540800.1_Intron			Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	534										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					ACGACCTGTGCGGCGAATCAG	0.587													5	16					0	0	3.59834e-05	0	0	T	71349790	C	T	71349790	3	4	126	1	0	0	0	0	1	0	0	0	13327	768	27	1	112	1	RGAG4	23	71349790	Missense_Mutation	SNP	C	TCGA-G9-6351-01A-21D-1961-08	70757964	71349790	83920770	26	6305											
ZCCHC16	340595	broad.mit.edu	37	chrX	111698033	111698033	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcagagaatctgattctgcGgcttcaaatgcagcatccaa	12	9	10	10	1	3	2	1	1	2	1	4	3	4	2	1	2	3	4	1	2	3	2			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chrX:111698033G>A	ENST00000340433.2	+	1	307	c.77G>A	c.(76-78)cGg>cAg	p.R26Q		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	26							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						CTGATTCTGCGGCTTCAAATG	0.507													14	44					0	0	0.000219431	0	0	A	111698033	G	A	111698033	3	1	126	1	0	0	0	0	1	0	0	0	17643	1116	39	1	79	1	ZCCHC16	23	111698033	Missense_Mutation	SNP	G	TCGA-G9-6351-01A-21D-1961-08	40348243	111698033	43572527	27	6306											
BRS3	680	broad.mit.edu	37	chrX	135572582	135572582	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctactattccttgattgctaGgaccctttacaaaagcaccc	11	12	5	13	0	0	1	0	1	0	0	1	2	1	2	3	1	4	2	3	1	6	8			TCGA-G9-6351-01A-21D-1961-08	TCGA-G9-6351-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88a3d315-6079-4be1-a83c-19e11c463b95	638655b9-baf3-4671-bf76-f5dd9fbab89d	g.chrX:135572582G>A	ENST00000370648.3	+	2	953	c.725G>A	c.(724-726)aGg>aAg	p.R242K		NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN	bombesin-like receptor 3	242					adult feeding behavior|glucose metabolic process|regulation of blood pressure	integral to membrane|plasma membrane	bombesin receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					TTGATTGCTAGGACCCTTTAC	0.388													13	20					0	0	0.000219431	0	0	A	135572582	G	A	135572582	3	1	126	1	0	0	0	0	1	0	0	0	1524	1000	35	2	731	2	BRS3	23	135572582	Missense_Mutation	SNP	G	TCGA-G9-6351-01A-21D-1961-08	23874549	135572582	19697978	28	6307											
HIVEP3	59269	broad.mit.edu	37	chr1	41978662	41978662	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgaccgtggtggtgactcgGcctgacctggagaccatctc	6	9	13	13	2	1	4	0	3	1	1	3	5	1	4	4	4	0	0	4	4	0	0			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chr1:41978662G>A	ENST00000372584.1	-	7	7244	c.6230C>T	c.(6229-6231)gCc>gTc	p.A2077V	HIVEP3_ENST00000247584.5_Missense_Mutation_p.A2077V|HIVEP3_ENST00000429157.2_Missense_Mutation_p.A2077V|HIVEP3_ENST00000372583.1_Missense_Mutation_p.A2077V|HIVEP3_ENST00000460604.1_5'UTR	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	2077	6 X 4 AA tandem repeats of S-P-X-[RK].				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TGGTGACTCGGCCTGACCTGG	0.687													3	43					0	0	0.004672	0	0	A	41978662	G	A	41978662	3	1	127	1	0	0	0	0	1	0	0	0	7229	1203	42	2	998	2	HIVEP3	1	41978662	Missense_Mutation	SNP	G	TCGA-G9-6353-01A-11D-1961-08		41978662	207271959	1	6308											
PTCH2	8643	broad.mit.edu	37	chr1	45296670	45296670	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagggacccagctcctccagCagctgctctggatccaggtt	8	8	11	14	0	1	0	0	0	1	0	4	2	4	2	4	3	4	5	4	3	1	1			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-11A-02D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	d3af2d8c-acc9-4f61-8ccb-79909bd3d439	g.chr1:45296670C>T	ENST00000447098.2	-	6	674	c.663G>A	c.(661-663)ctG>ctA	p.L221L	PTCH2_ENST00000372192.3_Silent_p.L221L	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	221					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					GCTCCTCCAGCAGCTGCTCTG	0.632									Basal Cell Nevus syndrome				7	41					0	0	0.038147	0	0	T	45296670	C	T	45296670	2	4	127	1	0	0	0	0	0	0	0	1	12780	697	25	2		2	PTCH2	1	45296670	Silent	SNP	C	TCGA-G9-6353-01A-11D-1961-08	3318008	45296670	203953951	2	6309											
KIRREL	55243	broad.mit.edu	37	chr1	158057909	158057909	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgaggttcacaacaaagtggGaagcaccaatgtcagcactt	14	8	10	9	0	2	1	2	1	0	0	2	2	2	2	1	2	3	3	1	2	4	2			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chr1:158057909G>T	ENST00000368172.1	+	3	287	c.275G>T	c.(274-276)gGa>gTa	p.G92V	KIRREL_ENST00000416935.2_Missense_Mutation_p.G194V|KIRREL_ENST00000392272.2_Missense_Mutation_p.G191V|KIRREL_ENST00000368173.3_Missense_Mutation_p.G294V|KIRREL_ENST00000360089.4_Missense_Mutation_p.G130V|KIRREL_ENST00000359209.6_Missense_Mutation_p.G294V			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	294	Ig-like C2-type 1.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					AACAAAGTGGGAAGCACCAAT	0.522											OREG0013906	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	253					1.12685e-05	1.58594e-05	0.047766	1	0	T	158057909	G	T	158057909	3	4	127	1	0	0	0	0	1	0	0	0	8367	1174	41	4	907	4	KIRREL	1	158057909	Missense_Mutation	SNP	G	TCGA-G9-6353-01A-11D-1961-08	112761239	158057909	91192712	3	6310											
PCDHA4	0	broad.mit.edu	37	chr5	140187629	140187629	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcattctcaaatgatatttCgccaaatgtgaaatccaagt	14	14	5	8	1	2	2	2	2	1	0	5	2	3	2	2	0	0	0	2	0	5	4			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chr5:140187629C>T	ENST00000530339.1	+	1	857	c.857C>T	c.(856-858)tCg>tTg	p.S286L	PCDHA4_ENST00000356878.4_Missense_Mutation_p.S286L|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.S286L	NM_018907.2	NP_061730.1												p.S286L(1)		breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATGATATTTCGCCAAATGTG	0.313													7	84					0	0	0.02938	0	0	T	140187629	C	T	140187629	3	4	127	1	0	0	0	0	1	0	0	0	11573	893	31	1	859	1	PCDHA4	5	140187629	Missense_Mutation	SNP	C	TCGA-G9-6353-01A-11D-1961-08		140187629	40727631	4	6311											
CLIC1	1192	broad.mit.edu	37	chr6	31701956	31701956	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtcaacggtggtaacatTgaaggtgactcccttgagcc	9	10	13	9	1	1	3	1	3	0	0	2	3	2	3	2	4	3	1	2	4	3	3			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chr6:31701956T>G	ENST00000375780.2	-	3	696	c.124A>C	c.(124-126)Aat>Cat	p.N42H	CLIC1_ENST00000375779.2_Missense_Mutation_p.N42H|CLIC1_ENST00000395892.1_Missense_Mutation_p.N42H|CLIC1_ENST00000375784.3_Missense_Mutation_p.N42H			O00299	CLIC1_HUMAN	chloride intracellular channel 1	42	Required for insertion into the membrane.				signal transduction	brush border|chloride channel complex|cytoplasm|membrane fraction|nuclear membrane|plasma membrane|soluble fraction	protein binding|voltage-gated chloride channel activity			central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	7						GTGGTAACATTGAAGGTGACT	0.517													3	63					0	0	0.004672	0	0	G	31701956	T	G	31701956	3	3	127	1	0	0	0	0	1	0	0	0	3548	1812	63	5	621	5	CLIC1	6	31701956	Missense_Mutation	SNP	T	TCGA-G9-6353-01A-11D-1961-08		31701956	139413111	5	6312											
TAF11	6882	broad.mit.edu	37	chr6	34846380	34846381	+	Frame_Shift_Ins	INS	-	-	T																															tttggtctagaagaagatgaINStttttttgtgcttcgagtta																								rs139408667		TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chr6:34846380_34846381insT	ENST00000361288.4	-	5	753_754	c.622_623insA	c.(622-624)catfs	p.H208fs	UHRF1BP1_ENST00000452449.2_Intron|TAF11_ENST00000420584.2_3'UTR	NM_005643.3	NP_005634.1	Q15544	TAF11_HUMAN	TAF11 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 28kDa	208					positive regulation by host of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	transcription factor TFIID complex	protein N-terminus binding|thyroid hormone receptor binding|transcription coactivator activity|vitamin D receptor binding	p.I208fs*>4(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6						GAAGAAGATGATTTTTTTGTGC	0.421													7	135	---	---	---	---						T	34846381	-	T	34846380	7	5	127	1	0	1	1	0	0	0	0	0	15572	333	12	0	16	0	TAF11	6	34846380	Frame_Shift_Ins	INS	-	TCGA-G9-6353-01A-11D-1961-08	3144424	34846380	136268687	6	6313											
PPP3CC	5533	broad.mit.edu	37	chr8	22368644	22368644	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatgatgcctgtatggagaCatttgactgtcttcctcttg	7	16	10	8	0	2	3	0	2	2	1	3	4	3	3	2	1	1	2	2	1	2	5			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chr8:22368644C>A	ENST00000240139.5	+	5	857	c.530C>A	c.(529-531)aCa>aAa	p.T177K	PPP3CC_ENST00000289963.8_Missense_Mutation_p.T177K|PPP3CC_ENST00000518852.1_Missense_Mutation_p.T177K|PPP3CC_ENST00000397775.3_Missense_Mutation_p.T177K	NM_005605.4	NP_005596.2	P48454	PP2BC_HUMAN	protein phosphatase 3, catalytic subunit, gamma isozyme	177					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	cytosol	calmodulin binding|metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(55;0.104)		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)		TGTATGGAGACATTTGACTGT	0.383													5	122					0.000602214	0.000789109	0.014758	1	0	A	22368644	C	A	22368644	3	1	127	1	0	0	0	0	1	0	0	0	12448	478	17	4	548	4	PPP3CC	8	22368644	Missense_Mutation	SNP	C	TCGA-G9-6353-01A-11D-1961-08		22368644	123995378	7	6314											
RDH10	157506	broad.mit.edu	37	chr8	74235228	74235228	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtacccctttattgctcaaaGaaagcaagccacaaacaata	17	8	5	11	0	1	1	1	0	0	1	1	1	1	1	3	0	5	3	3	0	8	5			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chr8:74235228G>A	ENST00000240285.5	+	6	1661	c.983G>A	c.(982-984)aGa>aAa	p.R328K	RP11-434I12.2_ENST00000517475.1_RNA|RDH10_ENST00000519380.1_Missense_Mutation_p.R163K|RP11-434I12.2_ENST00000514599.1_RNA	NM_172037.4	NP_742034.1	Q8IZV5	RDH10_HUMAN	retinol dehydrogenase 10 (all-trans)	328					retinal metabolic process|retinol metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|microsome	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	11	Breast(64;0.0954)		Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)			ATTGCTCAAAGAAAGCAAGCC	0.383													6	43					0	0	0.038147	0	0	A	74235228	G	A	74235228	3	1	127	1	0	0	0	0	1	0	0	0	13241	942	33	2	1005	2	RDH10	8	74235228	Missense_Mutation	SNP	G	TCGA-G9-6353-01A-11D-1961-08	51866584	74235228	72128794	8	6315											
NUDT2	318	broad.mit.edu	37	chr9	34343327	34343327	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atccgcctctcccatgagcaCcaagcctaccgctggctggg	7	7	10	17	2	1	1	0	1	1	0	3	1	2	1	6	2	3	3	6	2	2	1			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chr9:34343327C>T	ENST00000379158.2	+	5	691	c.333C>T	c.(331-333)caC>caT	p.H111H	NUDT2_ENST00000346365.4_Silent_p.H111H|NUDT2_ENST00000379155.5_Silent_p.H111H	NM_001161.4	NP_001152.1	P50583	AP4A_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 2	111	Nudix hydrolase.				induction of apoptosis|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity|bis(5'-nucleosyl)-tetraphosphatase (symmetrical) activity|GTP binding			lung(3)	3			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		CCCATGAGCACCAAGCCTACC	0.557													4	94					0	0	0.009096	0	0	T	34343327	C	T	34343327	2	4	127	1	0	0	0	0	0	0	0	1	10785	506	18	2		2	NUDT2	9	34343327	Silent	SNP	C	TCGA-G9-6353-01A-11D-1961-08		34343327	106870104	9	6316											
KCTD19	146212	broad.mit.edu	37	chr16	67335718	67335718	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttcatccggtaccaccttaCggcttcagtgagtgcaggga	8	10	12	11	2	2	1	2	1	0	0	3	2	3	2	3	3	3	4	3	3	2	4			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chr16:67335718C>T	ENST00000304372.5	-	5	806	c.751G>A	c.(751-753)Gta>Ata	p.V251I	KCTD19_ENST00000562860.1_5'UTR	NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	251						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		TACCACCTTACGGCTTCAGTG	0.473													15	253					0	0	0.024245	0	0	T	67335718	C	T	67335718	3	4	127	1	0	0	0	0	1	0	0	0	8150	536	19	1	2077	1	KCTD19	16	67335718	Missense_Mutation	SNP	C	TCGA-G9-6353-01A-11D-1961-08		67335718	23019035	10	6317											
FBXO46	23403	broad.mit.edu	37	chr19	46216533	46216533	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catcaccagcagctgctgctGagaggagcggagccggctgg	8	5	16	12	2	1	1	1	1	0	1	1	4	1	3	2	4	6	5	2	4	0	0			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chr19:46216533G>A	ENST00000317683.3	-	2	354	c.221C>T	c.(220-222)tCa>tTa	p.S74L		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	74							protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		AGCTGCTGCTGAGAGGAGCGG	0.642													5	106					0	0	0.021553	0	0	A	46216533	G	A	46216533	3	1	127	1	0	0	0	0	1	0	0	0	5788	1294	45	2	1594	2	FBXO46	19	46216533	Missense_Mutation	SNP	G	TCGA-G9-6353-01A-11D-1961-08		46216533	12912450	11	6318											
IL2RB	0	broad.mit.edu	37	chr22	37524348	37524348	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggtggctgaaaatccaccaGgtctgggactcctggggtgg	7	8	17	9	0	1	1	0	1	1	0	3	2	3	2	3	7	0	1	3	7	2	0			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chr22:37524348G>A	ENST00000216223.5	-	10	1642	c.1444C>T	c.(1444-1446)Ctg>Ttg	p.L482L		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	482					interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	AAATCCACCAGGTCTGGGACT	0.662													5	73					0	0	0.02938	0	0	A	37524348	G	A	37524348	2	1	127	1	0	0	0	0	0	0	0	1	7731	991	35	2		2	IL2RB	22	37524348	Silent	SNP	G	TCGA-G9-6353-01A-11D-1961-08		37524348	13780218	12	6319											
L3MBTL2	83746	broad.mit.edu	37	chr22	41616870	41616870	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagatcctagtgcccccacGgagtgagttgatgagaacat	12	8	11	10	1	0	4	0	3	0	2	1	6	1	5	3	1	2	1	3	1	3	2			TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chr22:41616870G>T	ENST00000216237.5	+	7	1009	c.851G>T	c.(850-852)cGg>cTg	p.R284L		NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	284					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GTGCCCCCACGGAGTGAGTTG	0.537													4	67					0.00024832	0.000337006	0.009096	1	0	T	41616870	G	T	41616870	3	4	127	1	0	0	0	0	1	0	0	0	8631	1116	39	4	877	4	L3MBTL2	22	41616870	Missense_Mutation	SNP	G	TCGA-G9-6353-01A-11D-1961-08	4092522	41616870	9687696	13	6320											
PHF8	23133	broad.mit.edu	37	chrX	54011405	54011407	+	In_Frame_Del	DEL	CTC	CTC	-																															tgttcatccagactggcgttCtcctcctcctcctcgctctc																										TCGA-G9-6353-01A-11D-1961-08	TCGA-G9-6353-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8b6ecad-0b33-446c-b7f5-6ad7a95ca260	8c34b0c6-72f2-4a77-a188-e4148283941d	g.chrX:54011405_54011407delCTC	ENST00000338154.6	-	18	2887_2889	c.2383_2385delGAG	c.(2383-2385)del	p.E795del	PHF8_ENST00000322659.8_In_Frame_Del_p.E778del|PHF8_ENST00000357988.5_In_Frame_Del_p.E831del|PHF8_ENST00000338946.6_In_Frame_Del_p.E694del	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	831	Ser-rich.				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GACTGGCGTTCTCCTCCTCCTCC	0.591													7	169	---	---	---	---						-	54011407	CTC	-	54011405	7	5	127	1	0	1	0	1	0	0	0	0	11888	912	32	0	835	0	PHF8	23	54011405	In_Frame_Del	DEL	CTC	TCGA-G9-6353-01A-11D-1961-08		54011405	101259155	14	6321											
SEPN1	57190	broad.mit.edu	37	chr1	26142184	26142184	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgaaggagggactccggcGtggcctgcccctcctccagc	5	6	13	17	2	0	1	0	1	0	0	3	3	3	3	7	4	2	0	7	4	1	0			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr1:26142184G>A	ENST00000361547.2	+	13	1803	c.1748G>A	c.(1747-1749)cGt>cAt	p.R583H	SEPN1_ENST00000354177.4_Missense_Mutation_p.R549H|SEPN1_ENST00000494537.1_3'UTR|RP1-317E23.6_ENST00000527604.1_Intron|SEPN1_ENST00000374315.1_Missense_Mutation_p.R549H	NM_020451.2	NP_065184.2	Q9NZV5	SELN_HUMAN	selenoprotein N, 1	583						endoplasmic reticulum membrane|extracellular region	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		GGACTCCGGCGTGGCCTGCCC	0.607													4	133					0	0	1	0	0	A	26142184	G	A	26142184	3	1	128	1	0	0	0	0	1	0	0	0	14110	1145	40	1	1798	1	SEPN1	1	26142184	Missense_Mutation	SNP	G	TCGA-G9-6354-01A-11D-A30X-08		26142184	223108437	1	6322											
CD48	962	broad.mit.edu	37	chr1	160654876	160654876	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cattctacaatcttctggtcGaaagtataaaaccaggttag	14	12	7	8	1	3	0	0	0	3	0	4	1	3	0	1	2	2	2	1	2	7	6			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr1:160654876G>A	ENST00000368045.3	-	2	225	c.186C>T	c.(184-186)ttC>ttT	p.F62F	CD48_ENST00000368046.3_Silent_p.F62F			P09326	CD48_HUMAN	CD48 molecule	62	Ig-like C2-type 1.				blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TCTTCTGGTCGAAAGTATAAA	0.443													7	63					0	0	1	0	0	A	160654876	G	A	160654876	2	1	128	1	0	0	0	0	0	0	0	1	3042	1049	37	1		1	CD48	1	160654876	Silent	SNP	G	TCGA-G9-6354-01A-11D-A30X-08	134512692	160654876	88595745	2	6323											
FAM71A	149647	broad.mit.edu	37	chr1	212798295	212798295	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcatgttcaacaccaccatgGggaaactgcagcgacaactg	13	6	10	12	1	1	0	1	0	0	0	1	2	1	1	2	2	5	3	2	2	3	1			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr1:212798295G>T	ENST00000294829.3	+	1	507	c.76G>T	c.(76-78)Ggg>Tgg	p.G26W	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	26										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		CACCACCATGGGGAAACTGCA	0.483													6	36					8.12818e-05	8.30488e-05	1	1	0	T	212798295	G	T	212798295	3	4	128	1	0	0	0	0	1	0	0	0	5642	1232	43	4	78	4	FAM71A	1	212798295	Missense_Mutation	SNP	G	TCGA-G9-6354-01A-11D-A30X-08	52143419	212798295	36452326	3	6324											
THSD7B	80731	broad.mit.edu	37	chr2	138033555	138033555	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtctgtctggcagggaataaCgggcagcagtgaagcctgtg	9	8	16	8	1	2	1	0	1	2	0	2	2	2	2	1	3	3	3	1	3	3	1			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr2:138033555C>T	ENST00000409968.1	+	12	2637	c.2459C>T	c.(2458-2460)aCg>aTg	p.T820M	THSD7B_ENST00000413152.2_Missense_Mutation_p.T789M|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.T820M					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CAGGGAATAACGGGCAGCAGT	0.403													10	31					0	0	1	0	0	T	138033555	C	T	138033555	3	4	128	1	0	0	0	0	1	0	0	0	15940	536	19	1	2408	1	THSD7B	2	138033555	Missense_Mutation	SNP	C	TCGA-G9-6354-01A-11D-A30X-08		138033555	105165818	4	6325											
RARB	5915	broad.mit.edu	37	chr3	25502755	25502755	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccacttcctccccctcgaGtgtacaaaccctgcttcgtc	6	11	5	19	2	0	0	0	0	0	0	6	1	3	0	5	0	3	2	5	0	2	3			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr3:25502755G>A	ENST00000330688.4	+	2	650	c.229G>A	c.(229-231)Gtg>Atg	p.V77M	RARB_ENST00000437042.2_5'UTR|RARB_ENST00000462272.1_3'UTR|RARB_ENST00000404969.1_Missense_Mutation_p.V84M|RARB_ENST00000458646.1_5'UTR	NM_000965.3	NP_000956.2	P10826	RARB_HUMAN	retinoic acid receptor, beta	84	Modulating.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	TCCCCCTCGAGTGTACAAACC	0.527													6	61					0	0	1	0	0	A	25502755	G	A	25502755	3	1	128	1	0	0	0	0	1	0	0	0	13105	1029	36	2	235	2	RARB	3	25502755	Missense_Mutation	SNP	G	TCGA-G9-6354-01A-11D-A30X-08		25502755	172519675	5	6326											
SCN5A	6331	broad.mit.edu	37	chr3	38592387	38592387	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggttgggcttggcgatacGgagtggctcagacagggcat	7	9	17	8	2	1	1	1	0	0	1	1	3	1	2	0	6	1	4	0	6	1	3			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr3:38592387G>A	ENST00000413689.1	-	28	5669	c.5476C>T	c.(5476-5478)Cgt>Tgt	p.R1826C	SCN5A_ENST00000425664.1_Missense_Mutation_p.R1808C|SCN5A_ENST00000423572.2_Missense_Mutation_p.R1825C|SCN5A_ENST00000333535.4_Missense_Mutation_p.R1826C|SCN5A_ENST00000449557.2_Missense_Mutation_p.R1772C|SCN5A_ENST00000450102.2_Missense_Mutation_p.R1772C|SCN5A_ENST00000455624.2_Missense_Mutation_p.R1793C|SCN5A_ENST00000451551.2_Missense_Mutation_p.R1772C|SCN5A_ENST00000443581.1_Missense_Mutation_p.R1825C|SCN5A_ENST00000414099.2_Missense_Mutation_p.R1808C	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1826			R -> C (found in patients with atrial fibrillation).|R -> H (in LQT3; sodium current characterized by slower decay and a 2- to 3-fold increase in late sodium current).		blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TTGGCGATACGGAGTGGCTCA	0.507													4	60					0	0	1	0	0	A	38592387	G	A	38592387	3	1	128	1	0	0	0	0	1	0	0	0	13976	1116	39	1	578	1	SCN5A	3	38592387	Missense_Mutation	SNP	G	TCGA-G9-6354-01A-11D-A30X-08	13089632	38592387	159430043	6	6327											
QARS	5859	broad.mit.edu	37	chr3	49136843	49136843	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgcagggccgtgagtgtaaaGagccgtgggtcatcccagtc	8	7	15	11	3	1	2	1	1	0	1	3	2	2	2	3	2	1	2	3	2	2	1			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr3:49136843G>A	ENST00000306125.6	-	17	1885	c.1548C>T	c.(1546-1548)ctC>ctT	p.L516L	QARS_ENST00000414533.1_Silent_p.L505L			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	516					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	TGAGTGTAAAGAGCCGTGGGT	0.567													9	73					0	0	1	0	0	A	49136843	G	A	49136843	2	1	128	1	0	0	0	0	0	0	0	1	12923	929	33	2		2	QARS	3	49136843	Silent	SNP	G	TCGA-G9-6354-01A-11D-A30X-08	10544456	49136843	148885587	7	6328											
BSN	8927	broad.mit.edu	37	chr3	49691395	49691395	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcctcagccttcccgggCatattcctactttgcaagct	7	12	6	16	1	1	0	1	0	0	0	4	0	4	0	4	1	4	3	4	1	3	5			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr3:49691395C>A	ENST00000296452.4	+	5	4520	c.4406C>A	c.(4405-4407)gCa>gAa	p.A1469E		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1469					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCTTCCCGGGCATATTCCTAC	0.632													4	95					0.00198382	0.00198382	1	1	0	A	49691395	C	A	49691395	3	1	128	1	0	0	0	0	1	0	0	0	1532	710	25	4	4424	4	BSN	3	49691395	Missense_Mutation	SNP	C	TCGA-G9-6354-01A-11D-A30X-08	554552	49691395	148331035	8	6329											
CCDC39	339829	broad.mit.edu	37	chr3	180359822	180359822	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaacatatcttatttgtgaCgcaagcattgttttatgaac	12	16	6	7	1	2	2	1	2	1	0	2	2	2	2	0	0	3	3	0	0	6	6			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr3:180359822C>T	ENST00000273654.4	-	19	2704	c.2085G>A	c.(2083-2085)gcG>gcA	p.A695A	CCDC39_ENST00000442201.2_Silent_p.A611A			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	611					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TTATTTGTGACGCAAGCATTG	0.348													6	63					0	0	1	0	0	T	180359822	C	T	180359822	2	4	128	1	0	0	0	0	0	0	0	1	2830	523	19	1		1	CCDC39	3	180359822	Silent	SNP	C	TCGA-G9-6354-01A-11D-A30X-08	130668427	180359822	17662608	9	6330											
TBC1D19	55296	broad.mit.edu	37	chr4	26622268	26622268	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcatcctgctgcacctccTgaacatcttaaagaaccttt	11	12	5	13	0	2	2	1	1	1	1	4	2	4	2	4	0	4	2	4	0	4	2			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr4:26622268T>A	ENST00000264866.4	+	4	530	c.252T>A	c.(250-252)ccT>ccA	p.P84P	TBC1D19_ENST00000515568.1_3'UTR|TBC1D19_ENST00000511789.1_Intron	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	84						intracellular	Rab GTPase activator activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				CTGCACCTCCTGAACATCTTA	0.368													6	56					0	0	1	0	0	A	26622268	T	A	26622268	2	1	128	1	0	0	0	0	0	0	0	1	15664	1567	55	5		5	TBC1D19	4	26622268	Silent	SNP	T	TCGA-G9-6354-01A-11D-A30X-08		26622268	164532008	10	6331											
EXOC1	55763	broad.mit.edu	37	chr4	56768605	56768605	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacaaacaagaacttcgtaaAgtcattaaggagtaccctgg	17	8	8	8	1	1	1	1	0	0	1	2	2	1	2	1	2	4	2	1	2	8	4			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr4:56768605A>G	ENST00000381295.2	+	18	2781	c.2433A>G	c.(2431-2433)aaA>aaG	p.K811K	EXOC1_ENST00000349598.6_Silent_p.K796K|EXOC1_ENST00000346134.7_Silent_p.K811K	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	811					exocytosis|protein transport	exocyst	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					AACTTCGTAAAGTCATTAAGG	0.388													4	59					0	0	1	0	0	G	56768605	A	G	56768605	2	3	128	1	0	0	0	0	0	0	0	1	5328	69	3	3		3	EXOC1	4	56768605	Silent	SNP	A	TCGA-G9-6354-01A-11D-A30X-08	30146337	56768605	134385671	11	6332											
APBB3	10307	broad.mit.edu	37	chr5	139938336	139938336	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtccgcttgagccgcaggCgggcacgggcctgggcaccc	4	5	17	15	4	0	1	0	1	0	0	1	1	1	1	4	5	1	4	4	5	0	1	rs138766975		TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr5:139938336C>T	ENST00000357560.4	-	13	1738	c.1295G>A	c.(1294-1296)cGc>cAc	p.R432H	APBB3_ENST00000354402.5_Missense_Mutation_p.R439H|APBB3_ENST00000358580.5_3'UTR|APBB3_ENST00000412920.3_Missense_Mutation_p.R430H|APBB3_ENST00000356738.2_Missense_Mutation_p.R437H|APBB3_ENST00000508496.2_Missense_Mutation_p.R209H	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3	432	PID 2.					actin cytoskeleton|cytoplasm				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCCGCAGGCGGGCACGGGC	0.662													4	63					0	0	1	0	0	T	139938336	C	T	139938336	3	4	128	1	0	0	0	0	1	0	0	0	758	768	27	1	169	1	APBB3	5	139938336	Missense_Mutation	SNP	C	TCGA-G9-6354-01A-11D-A30X-08		139938336	40976924	12	6333											
SH3TC2	79628	broad.mit.edu	37	chr5	148406714	148406714	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgggctctgttcaaggcccGaagatagctcttggctgccc	6	10	12	13	1	3	1	1	0	2	1	3	2	3	1	2	3	2	4	2	3	3	3	rs147490172		TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr5:148406714G>A	ENST00000538184.1	-	7	2110	c.1222C>T	c.(1222-1224)Cgg>Tgg	p.R408W	SH3TC2_ENST00000512049.1_Missense_Mutation_p.R854W|SH3TC2_ENST00000515425.1_Missense_Mutation_p.R861W|SH3TC2_ENST00000394358.2_Missense_Mutation_p.R746W			Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	861							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCAAGGCCCGAAGATAGCTC	0.567													5	227					0	0	1	0	0	A	148406714	G	A	148406714	3	1	128	1	0	0	0	0	1	0	0	0	14317	1057	37	1	1313	1	SH3TC2	5	148406714	Missense_Mutation	SNP	G	TCGA-G9-6354-01A-11D-A30X-08	8468378	148406714	32508546	13	6334											
RUNX2	860	broad.mit.edu	37	chr6	45390445	45390445	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcaacagcagcagcagcaAcagcagcagcagcagcagca	16	0	11	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	11	0	0	2	0			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr6:45390445A>G	ENST00000371438.1	+	2	532	c.174A>G	c.(172-174)caA>caG	p.Q58Q	RUNX2_ENST00000352853.5_Silent_p.Q126Q|RUNX2_ENST00000465038.2_Silent_p.Q58Q|RUNX2_ENST00000576263.1_Silent_p.Q58Q|RUNX2_ENST00000359524.5_Silent_p.Q44Q|RUNX2_ENST00000371436.6_Silent_p.Q58Q|RUNX2_ENST00000371432.3_Silent_p.Q44Q|RUNX2_ENST00000541979.1_Silent_p.Q126Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	58	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcaacagcagcagc	0.731													3	58					0	0	1	0	0	G	45390445	A	G	45390445	2	3	128	1	0	0	0	0	0	0	0	1	13800	40	2	3		3	RUNX2	6	45390445	Silent	SNP	A	TCGA-G9-6354-01A-11D-A30X-08		45390445	125724622	14	6335											
HTR1E	3354	broad.mit.edu	37	chr6	87725911	87725911	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agatctctagcaccagggaaCggaaggcagcacgcatcctg	12	5	12	12	2	1	1	0	0	1	1	3	3	2	3	2	3	3	4	2	3	3	1			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr6:87725911C>T	ENST00000305344.4	+	2	1562	c.859C>T	c.(859-861)Cgg>Tgg	p.R287W	HTR1E_ENST00000369584.1_Missense_Mutation_p.R287W	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	287					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	CACCAGGGAACGGAAGGCAGC	0.502													12	149					0	0	1	0	0	T	87725911	C	T	87725911	3	4	128	1	0	0	0	0	1	0	0	0	7483	527	19	1	861	1	HTR1E	6	87725911	Missense_Mutation	SNP	C	TCGA-G9-6354-01A-11D-A30X-08	42335466	87725911	83389156	15	6336											
TAAR6	319100	broad.mit.edu	37	chr6	132891858	132891858	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccatcgacaggtacattgCggttactgaccccctggtct	7	11	9	14	2	1	1	0	1	1	0	3	2	2	1	3	3	3	2	3	3	2	3			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr6:132891858C>T	ENST00000275198.1	+	1	398	c.398C>T	c.(397-399)gCg>gTg	p.A133V		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	133						plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		AGGTACATTGCGGTTACTGAC	0.488													94	209					0	0	1	0	0	T	132891858	C	T	132891858	3	4	128	1	0	0	0	0	1	0	0	0	15549	768	27	1	400	1	TAAR6	6	132891858	Missense_Mutation	SNP	C	TCGA-G9-6354-01A-11D-A30X-08	45165947	132891858	38223209	16	6337											
PLEKHG1	57480	broad.mit.edu	37	chr6	151055000	151055000	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagctgattcctgccaggccGttttccagcagcgagctgca	7	9	12	13	2	0	1	0	1	0	0	2	3	2	1	4	1	6	5	4	1	0	3	rs145506185	byFrequency	TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr6:151055000G>A	ENST00000367328.1	+	3	495	c.183G>A	c.(181-183)ccG>ccA	p.P61P	PLEKHG1_ENST00000358517.2_Silent_p.P61P	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	61					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		CTGCCAGGCCGTTTTCCAGCA	0.572													13	50					0	0	1	0	0	A	151055000	G	A	151055000	2	1	128	1	0	0	0	0	0	0	0	1	12116	1132	40	1		1	PLEKHG1	6	151055000	Silent	SNP	G	TCGA-G9-6354-01A-11D-A30X-08	18163142	151055000	20060067	17	6338											
PRKAR1B	5575	broad.mit.edu	37	chr7	716868	716868	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggggacgagtctgcctacctCctctcgttgtcatccaggtg	5	11	12	13	2	3	0	1	0	2	0	6	2	5	1	4	3	2	1	4	3	1	2			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr7:716868C>G	ENST00000406797.1	-	4	612	c.438G>C	c.(436-438)agG>agC	p.R146S	PRKAR1B_ENST00000544935.1_Missense_Mutation_p.R146S|PRKAR1B_ENST00000360274.4_Missense_Mutation_p.R146S|PRKAR1B_ENST00000537384.1_Missense_Mutation_p.R146S|PRKAR1B_ENST00000403562.1_Missense_Mutation_p.R146S	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, beta	146					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity			endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		CTGCCTACCTCCTCTCGTTGT	0.642													13	106					0	0	1	0	0	G	716868	C	G	716868	3	3	128	1	0	0	0	0	1	0	0	0	12556	854	30	4	739	4	PRKAR1B	7	716868	Missense_Mutation	SNP	C	TCGA-G9-6354-01A-11D-A30X-08		716868	158421795	18	6339											
TRPA1	8989	broad.mit.edu	37	chr8	72973925	72973925	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacgctaccagaataggaCgatatcatcagtttaacaat	15	10	6	10	2	2	1	2	0	0	1	3	3	3	2	2	1	2	2	2	1	6	5			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr8:72973925C>T	ENST00000262209.4	-	7	1086	c.879G>A	c.(877-879)tcG>tcA	p.S293S		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	293						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	CAGAATAGGACGATATCATCA	0.423													9	58					0	0	1	0	0	T	72973925	C	T	72973925	2	4	128	1	0	0	0	0	0	0	0	1	16638	523	19	1		1	TRPA1	8	72973925	Silent	SNP	C	TCGA-G9-6354-01A-11D-A30X-08		72973925	73390097	19	6340											
ZFHX4	79776	broad.mit.edu	37	chr8	77766817	77766817	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactggacaactgctgggcAgttccctcactcaaatgccc	9	9	9	14	0	2	1	2	1	0	0	3	2	3	2	2	2	3	3	2	2	2	1			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr8:77766817A>T	ENST00000521891.2	+	10	8108	c.7660A>T	c.(7660-7662)Agt>Tgt	p.S2554C	ZFHX4_ENST00000455469.2_Missense_Mutation_p.S2509C|ZFHX4_ENST00000518282.1_Missense_Mutation_p.S2528C|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S2509C	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2509						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ACTGCTGGGCAGTTCCCTCAC	0.512										HNSCC(33;0.089)			20	61					0	0	1	0	0	T	77766817	A	T	77766817	3	4	128	1	0	0	0	0	1	0	0	0	17693	188	7	5	7694	5	ZFHX4	8	77766817	Missense_Mutation	SNP	A	TCGA-G9-6354-01A-11D-A30X-08	4792892	77766817	68597205	20	6341											
TMEM2	23670	broad.mit.edu	37	chr9	74345121	74345121	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cctctgttcaataccatcttCcaaaaagaaacaatgaccta	16	10	3	12	0	3	2	1	1	2	1	4	2	4	2	4	0	2	1	4	0	7	4			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr9:74345121C>T	ENST00000377044.4	-	9	2361	c.1822G>A	c.(1822-1824)Gaa>Aaa	p.E608K	TMEM2_ENST00000377066.5_Missense_Mutation_p.E545K	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	608						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		ATACCATCTTCCAAAAAGAAA	0.403													4	37					0	0	1	0	0	T	74345121	C	T	74345121	3	4	128	1	0	0	0	0	1	0	0	0	16181	864	30	2	2393	2	TMEM2	9	74345121	Missense_Mutation	SNP	C	TCGA-G9-6354-01A-11D-A30X-08		74345121	66868310	21	6342											
FAM21C	253725	broad.mit.edu	37	chr10	46238880	46238880	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taccatatctcattgggtcaAagctgttcatggaacaagaa	14	11	8	8	0	3	1	3	0	1	1	4	2	3	2	1	2	3	2	1	2	6	4			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr10:46238880A>G	ENST00000336378.4	+	6	689	c.571A>G	c.(571-573)Aag>Gag	p.K191E	FAM21C_ENST00000537517.1_Missense_Mutation_p.K191E|FAM21C_ENST00000540872.1_Missense_Mutation_p.K191E|FAM21C_ENST00000374362.2_Missense_Mutation_p.K191E|FAM21C_ENST00000359860.4_Missense_Mutation_p.K135E	NM_015262.2	NP_056077.2	A8K5W5	A8K5W5_HUMAN	family with sequence similarity 21, member C	191										central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						CATTGGGTCAAAGCTGTTCAT	0.348													11	87					0	0	1	0	0	G	46238880	A	G	46238880	3	3	128	1	0	0	0	0	1	0	0	0	5574	15	1	3	593	3	FAM21C	10	46238880	Missense_Mutation	SNP	A	TCGA-G9-6354-01A-11D-A30X-08		46238880	89295867	22	6343											
SCD	6319	broad.mit.edu	37	chr10	102112212	102112212	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacaaagctcggctgcccCtacggctctttctgatcatt	7	13	7	14	2	3	1	1	1	2	0	4	1	3	1	2	2	4	3	2	2	3	4			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr10:102112212C>G	ENST00000370355.2	+	3	781	c.400C>G	c.(400-402)Cta>Gta	p.L134V		NM_005063.4	NP_005054.3	O00767	ACOD_HUMAN	stearoyl-CoA desaturase (delta-9-desaturase)	134					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|large_intestine(3)|lung(5)	9		Colorectal(252;0.0323)		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)		TCGGCTGCCCCTACGGCTCTT	0.517													21	173					0	0	1	0	0	G	102112212	C	G	102112212	3	3	128	1	0	0	0	0	1	0	0	0	13939	680	24	4	410	4	SCD	10	102112212	Missense_Mutation	SNP	C	TCGA-G9-6354-01A-11D-A30X-08	55873332	102112212	33422535	23	6344											
MUC6	4588	broad.mit.edu	37	chr11	1030952	1030952	+	Frame_Shift_Del	DEL	G	G	-																															agcccccttgcttacgtgctGggcctgccggacgtgggtgc																										TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr11:1030952delG	ENST00000421673.2	-	6	729	c.679delC	c.(679-681)agfs	p.Q227fs		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	227	VWFD 1.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTTACGTGCTGGGCCTGCCGG	0.667													2	4	---	---	---	---						-	1030952	G	-	1030952	7	5	128	1	0	1	0	1	0	0	0	0	10028	1357	47	0	6752	0	MUC6	11	1030952	Frame_Shift_Del	DEL	G	TCGA-G9-6354-01A-11D-A30X-08		1030952	133975564	24	6345											
OR4C6	219432	broad.mit.edu	37	chr11	55433550	55433550	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagaaactctggatgaaatGggaggctttggctgggaaat	13	9	15	4	0	1	2	0	1	1	1	1	6	1	5	0	5	1	2	0	5	4	1			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr11:55433550G>T	ENST00000314259.3	+	1	937	c.908G>T	c.(907-909)tGg>tTg	p.W303L		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TGGATGAAATGGGAGGCTTTG	0.418													5	41					4.096e-09	4.27804e-09	1	1	0	T	55433550	G	T	55433550	3	4	128	1	0	0	0	0	1	0	0	0	11100	1357	47	4	910	4	OR4C6	11	55433550	Missense_Mutation	SNP	G	TCGA-G9-6354-01A-11D-A30X-08	54402598	55433550	79572966	25	6346											
DTX4	23220	broad.mit.edu	37	chr11	58959580	58959580	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctccccaggactgcaccAtctgtatggaacgcctcacg	8	8	8	17	2	2	0	1	0	1	0	4	2	4	2	5	2	2	2	5	2	2	1			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr11:58959580A>G	ENST00000227451.3	+	6	1335	c.1231A>G	c.(1231-1233)Atc>Gtc	p.I411V	DTX4_ENST00000531902.1_3'UTR|DTX4_ENST00000532982.1_Missense_Mutation_p.I305V	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex homolog 4 (Drosophila)	411					Notch signaling pathway	cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				GGACTGCACCATCTGTATGGA	0.582													7	49					0	0	1	0	0	G	58959580	A	G	58959580	3	3	128	1	0	0	0	0	1	0	0	0	4823	217	8	3	1253	3	DTX4	11	58959580	Missense_Mutation	SNP	A	TCGA-G9-6354-01A-11D-A30X-08	3526030	58959580	76046936	26	6347											
NUP107	57122	broad.mit.edu	37	chr12	69103089	69103089	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcacttgttcgacaaagtcaGgtatgactagaatttaaaat	15	13	7	6	1	2	2	2	1	0	1	3	3	2	2	0	1	0	2	0	1	6	6			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr12:69103089G>A	ENST00000229179.4	+	9	1133	c.801_splice	c.e9+1	p.Q267_splice	NUP107_ENST00000378905.2_Splice_Site_p.Q116_splice|NUP107_ENST00000539906.1_Splice_Site_p.Q238_splice	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	267					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			GACAAAGTCAGGTATGACTAG	0.299													6	59					0	0	1	0	0	A	69103089	G	A	69103089	5	1	128	1	0	0	0	0	0	0	1	0	10801	1014	35	2	835	2	NUP107	12	69103089	Splice_Site	SNP	G	TCGA-G9-6354-01A-11D-A30X-08		69103089	64748806	27	6348											
MYCBP2	23077	broad.mit.edu	37	chr13	77642776	77642776	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggttagctgttgagccagaTattgccggccaacgttagag	9	10	14	8	2	0	3	0	1	0	2	0	3	0	3	3	2	4	4	3	2	4	5			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr13:77642776T>A	ENST00000407578.2	-	70	12361	c.12095A>T	c.(12094-12096)tAt>tTt	p.Y4032F	MYCBP2_ENST00000544440.2_Missense_Mutation_p.Y3994F|MYCBP2_ENST00000357337.6_Missense_Mutation_p.Y3994F	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	3994					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)		TTGAGCCAGATATTGCCGGCC	0.498													7	31					0	0	1	0	0	A	77642776	T	A	77642776	3	1	128	1	0	0	0	0	1	0	0	0	10066	1406	49	5	1997	5	MYCBP2	13	77642776	Missense_Mutation	SNP	T	TCGA-G9-6354-01A-11D-A30X-08		77642776	37527102	28	6349											
GMPR2	51292	broad.mit.edu	37	chr14	24702732	24702732	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggaactcaaagcagacataCtctggggttcccatcattgc	11	9	9	12	1	3	1	2	0	1	1	4	2	4	2	1	3	4	2	1	3	3	3			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr14:24702732C>A	ENST00000557854.1	+	2	466	c.189C>A	c.(187-189)taC>taA	p.Y63*	GMPR2_ENST00000420554.2_Nonsense_Mutation_p.Y63*|GMPR2_ENST00000559910.1_Nonsense_Mutation_p.Y45*|GMPR2_ENST00000559836.1_Nonsense_Mutation_p.Y45*|GMPR2_ENST00000399440.2_Nonsense_Mutation_p.Y45*|GMPR2_ENST00000348719.7_Nonsense_Mutation_p.Y45*|GMPR2_ENST00000456667.3_Nonsense_Mutation_p.Y45*|GMPR2_ENST00000355299.4_Nonsense_Mutation_p.Y45*|GMPR2_ENST00000559104.1_Nonsense_Mutation_p.Y63*			Q9P2T1	GMPR2_HUMAN	guanosine monophosphate reductase 2	45					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage	cytosol	GMP reductase activity|metal ion binding			large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(265;0.0181)		AGCAGACATACTCTGGGGTTC	0.448													14	50					4.14922e-12	4.43212e-12	1	1	0	A	24702732	C	A	24702732	4	1	128	1	0	0	0	0	0	1	0	0	6539	576	20	4	195	4	GMPR2	14	24702732	Nonsense_Mutation	SNP	C	TCGA-G9-6354-01A-11D-A30X-08		24702732	82646808	29	6350											
FAM169B	283777	broad.mit.edu	37	chr15	98995217	98995217	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcaggtagcatgcaccGgtgccatcaccacacagtct	10	6	11	14	1	2	0	1	0	1	0	2	0	2	0	3	3	4	5	3	3	1	1	rs61734134		TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr15:98995217G>A	ENST00000558256.1	-	5	456	c.207C>T	c.(205-207)acC>acT	p.T69T	FAM169B_ENST00000332908.4_Silent_p.T69T	NM_182562.2	NP_872368.2	Q8N8A8	F169B_HUMAN	family with sequence similarity 169, member B	69										large_intestine(3)|lung(3)|urinary_tract(1)	7						AGCATGCACCGGTGCCATCAC	0.587													3	35					0	0	1	0	0	A	98995217	G	A	98995217	2	1	128	1	0	0	0	0	0	0	0	1	5518	1103	39	1		1	FAM169B	15	98995217	Silent	SNP	G	TCGA-G9-6354-01A-11D-A30X-08		98995217	3536175	30	6351											
C16orf58	64755	broad.mit.edu	37	chr16	31508234	31508234	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagcctggtgcacggtcaggGcagcccgagtggccccacca	7	4	15	15	2	1	0	1	0	0	0	1	2	1	0	5	4	3	2	5	4	0	0			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr16:31508234G>A	ENST00000327237.2	-	6	677	c.638C>T	c.(637-639)gCc>gTc	p.A213V	C16orf58_ENST00000430477.2_Missense_Mutation_p.A71V|C16orf58_ENST00000570164.1_Missense_Mutation_p.A213V|C16orf58_ENST00000567994.1_Missense_Mutation_p.A168V			Q96GQ5	CP058_HUMAN	chromosome 16 open reading frame 58	213						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)	14						CACGGTCAGGGCAGCCCGAGT	0.632													6	6					0	0	1	0	0	A	31508234	G	A	31508234	3	1	128	1	0	0	0	0	1	0	0	0	1829	1203	42	2	800	2	C16orf58	16	31508234	Missense_Mutation	SNP	G	TCGA-G9-6354-01A-11D-A30X-08		31508234	58846519	31	6352											
SPNS3	201305	broad.mit.edu	37	chr17	4349448	4349448	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctcttcgtgagggaccagCgcacccgcgtgctggctgtc	5	8	13	15	4	1	1	0	1	1	0	3	2	1	2	3	2	2	3	3	2	0	1			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr17:4349448C>T	ENST00000355530.2	+	4	788	c.508C>T	c.(508-510)Cgc>Tgc	p.R170C	SPNS3_ENST00000333476.2_Missense_Mutation_p.R43C|SPNS3_ENST00000576069.1_3'UTR	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	170					lipid transport|transmembrane transport	integral to membrane				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						GAGGGACCAGCGCACCCGCGT	0.617													4	63					0	0	1	0	0	T	4349448	C	T	4349448	3	4	128	1	0	0	0	0	1	0	0	0	15132	768	27	1	522	1	SPNS3	17	4349448	Missense_Mutation	SNP	C	TCGA-G9-6354-01A-11D-A30X-08		4349448	76845762	32	6353											
VN1R2	317701	broad.mit.edu	37	chr19	53762190	53762190	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcctcttgagtgtcttccagGtgatcaccatcaaccctagg	8	11	9	13	0	4	2	2	2	2	0	5	2	5	2	4	2	1	0	4	2	2	3			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr19:53762190G>A	ENST00000341702.3	+	1	646	c.562G>A	c.(562-564)Gtg>Atg	p.V188M		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	188					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		TGTCTTCCAGGTGATCACCAT	0.473													5	23					0	0	1	0	0	A	53762190	G	A	53762190	3	1	128	1	0	0	0	0	1	0	0	0	17239	1261	44	2	564	2	VN1R2	19	53762190	Missense_Mutation	SNP	G	TCGA-G9-6354-01A-11D-A30X-08		53762190	5366793	33	6354											
EEF1A2	1917	broad.mit.edu	37	chr20	62126425	62126425	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcgaactcgcccacgccCgccgccacgatcagcactgc	7	4	9	21	6	1	0	1	0	0	0	3	2	1	0	5	0	3	1	5	0	1	0	rs143957818		TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chr20:62126425C>T	ENST00000217182.3	-	4	519	c.354G>A	c.(352-354)gcG>gcA	p.A118A	EEF1A2_ENST00000298049.7_Silent_p.A118A	NM_001958.3	NP_001949.1	Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	118						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			CGCCCACGCCCGCCGCCACGA	0.711													18	117					0	0	1	0	0	T	62126425	C	T	62126425	2	4	128	1	0	0	0	0	0	0	0	1	4950	639	23	1		1	EEF1A2	20	62126425	Silent	SNP	C	TCGA-G9-6354-01A-11D-A30X-08		62126425	899095	34	6355											
P2RY8	286530	broad.mit.edu	37	chrX	1584460	1584460	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcctcggagcgcacggacGtggtcctggcggagaagagg	7	4	19	11	6	0	2	0	0	0	2	2	5	1	4	2	7	1	1	2	7	1	0			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chrX:1584460G>A	ENST00000381297.4	-	2	1202	c.992C>T	c.(991-993)aCg>aTg	p.T331M		NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	331						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCGCACGGACGTGGTCCTGGC	0.701			T	CRLF2	"B-ALL, Downs associated ALL"								9	113					0	0	1	0	0	A	1584460	G	A	1584460	3	1	128	1	0	0	0	0	1	0	0	0	11402	1145	40	1	91	1	P2RY8	23	1584460	Missense_Mutation	SNP	G	TCGA-G9-6354-01A-11D-A30X-08		1584460	153686100	35	6356											
SHROOM4	57477	broad.mit.edu	37	chrX	50376383	50376383	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aataaatgcaaggatcatggActagagctccttgaacactg	15	9	9	8	0	1	2	1	1	0	1	2	4	2	4	1	2	3	2	1	2	6	3			TCGA-G9-6354-01A-11D-A30X-08	TCGA-G9-6354-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea8eed7-1e59-4888-b285-e5aa3d73cbd9	eba48f21-c778-4331-97c5-e28b88cc0627	g.chrX:50376383A>G	ENST00000376020.2	-	4	2715	c.2690T>C	c.(2689-2691)gTc>gCc	p.V897A	SHROOM4_ENST00000289292.7_Missense_Mutation_p.V897A|SHROOM4_ENST00000460112.3_Missense_Mutation_p.V781A	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	897	Cys-rich.				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					AGGATCATGGACTAGAGCTCC	0.453													10	8					0	0	1	0	0	G	50376383	A	G	50376383	3	3	128	1	0	0	0	0	1	0	0	0	14351	275	10	3	1815	3	SHROOM4	23	50376383	Missense_Mutation	SNP	A	TCGA-G9-6354-01A-11D-A30X-08	48791923	50376383	104894177	36	6357											
NBPF1	55672	broad.mit.edu	37	chr1	16907266	16907266	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatgtttacagcatcctgaCattcatcatgagaggattct	12	13	8	8	0	3	2	2	2	1	1	4	5	4	3	1	1	2	2	1	1	2	4			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	30010140-dae9-41fe-96c6-5af69e6bfef2	g.chr1:16907266C>T	ENST00000430580.2	-	16	2452	c.1565G>A	c.(1564-1566)tGt>tAt	p.C522Y		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	522	NBPF 2.					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)		AGCATCCTGACATTCATCATG	0.443													33	1709					0	0	0.435327	0	0	T	16907266	C	T	16907266	3	4	129	1	0	0	0	0	1	0	0	0	10240	478	17	2	1915	2	NBPF1	1	16907266	Missense_Mutation	SNP	C	TCGA-G9-6356-01A-11D-1786-08		16907266	232343355	1	6358											
TIE1	7075	broad.mit.edu	37	chr1	43783609	43783609	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaacctgctagattttctgCggaaaagccgggtcctagag	10	9	13	9	2	1	2	0	0	1	2	2	4	2	4	3	3	4	1	3	3	5	4			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr1:43783609C>T	ENST00000372476.3	+	17	2867	c.2788C>T	c.(2788-2790)Cgg>Tgg	p.R930W	TIE1_ENST00000433781.2_Missense_Mutation_p.R575W|TIE1_ENST00000473014.1_3'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	930	Protein kinase.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.R930W(2)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGATTTTCTGCGGAAAAGCCG	0.527													28	298					0	0	0.729181	0	0	T	43783609	C	T	43783609	3	4	129	1	0	0	0	0	1	0	0	0	15953	759	27	1	2854	1	TIE1	1	43783609	Missense_Mutation	SNP	C	TCGA-G9-6356-01A-11D-1786-08	26876343	43783609	205467012	2	6359											
ZNF678	339500	broad.mit.edu	37	chr1	227842075	227842075	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcaagaccttttgccagagCaggatatgaaagatttatgc	13	12	9	7	0	1	4	1	1	0	3	1	5	1	5	2	1	3	1	2	1	4	6			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr1:227842075C>T	ENST00000343776.4	+	4	469	c.124C>T	c.(124-126)Cag>Tag	p.Q42*	ZNF678_ENST00000397097.3_Nonsense_Mutation_p.Q97*|ZNF678_ENST00000498759.1_Intron			F5GXA7	F5GXA7_HUMAN	zinc finger protein 678	97					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.Q42*(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				TTTGCCAGAGCAGGATATGAA	0.333													11	134					0	0	0.435327	0	0	T	227842075	C	T	227842075	4	4	129	1	0	0	0	0	0	1	0	0	18142	711	25	2	303	2	ZNF678	1	227842075	Nonsense_Mutation	SNP	C	TCGA-G9-6356-01A-11D-1786-08	184058466	227842075	21408546	3	6360											
LPIN1	23175	broad.mit.edu	37	chr2	11943067	11943067	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catcctccagtgatgaggagCgcgcagctgccaagccatca	10	6	11	14	2	1	2	1	2	0	0	3	3	3	3	4	1	4	2	4	1	1	0			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr2:11943067C>T	ENST00000256720.2	+	14	1906	c.1813C>T	c.(1813-1815)Cgc>Tgc	p.R605C	LPIN1_ENST00000404113.2_Missense_Mutation_p.R106C|LPIN1_ENST00000449576.2_Missense_Mutation_p.R690C|LPIN1_ENST00000396099.1_Missense_Mutation_p.R647C|LPIN1_ENST00000396097.1_Missense_Mutation_p.R335C|LPIN1_ENST00000425416.2_Missense_Mutation_p.R611C	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	605					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity	p.R605C(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		TGATGAGGAGCGCGCAGCTGC	0.498													19	172					0	0	0.539581	0	0	T	11943067	C	T	11943067	3	4	129	1	0	0	0	0	1	0	0	0	8963	768	27	1	1863	1	LPIN1	2	11943067	Missense_Mutation	SNP	C	TCGA-G9-6356-01A-11D-1786-08		11943067	231256306	4	6361											
SNRNP27	11017	broad.mit.edu	37	chr2	70130361	70130361	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctatgccataaatgtctctCagaagaggaagtacaggtat	14	10	9	8	0	2	2	1	0	1	2	3	3	2	3	2	2	2	2	2	2	7	4			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr2:70130361C>T	ENST00000244227.3	+	5	822	c.397C>T	c.(397-399)Cag>Tag	p.Q133*	SNRNP27_ENST00000409116.1_Intron|SNRNP27_ENST00000488986.1_3'UTR	NM_006857.2	NP_006848.1	Q8WVK2	SNR27_HUMAN	small nuclear ribonucleoprotein 27kDa (U4/U6.U5)	133					mRNA processing|RNA splicing	nucleus	nucleic acid binding	p.Q133*(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	11						AAATGTCTCTCAGAAGAGGAA	0.328													10	117					0	0	0.38729	0	0	T	70130361	C	T	70130361	4	4	129	1	0	0	0	0	0	1	0	0	14908	827	29	2	415	2	SNRNP27	2	70130361	Nonsense_Mutation	SNP	C	TCGA-G9-6356-01A-11D-1786-08	58187294	70130361	173069012	5	6362											
TTC30A	92104	broad.mit.edu	37	chr2	178483090	178483090	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcttgcaggcggaggacccGgctgtggtaggcggggttat	6	8	19	8	3	0	0	0	0	0	0	0	2	0	2	1	8	2	5	1	8	2	3			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr2:178483090G>A	ENST00000355689.4	-	1	604	c.340C>T	c.(340-342)Cgg>Tgg	p.R114W	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	114					cell projection organization	cilium	binding	p.R114W(1)		autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			CGGAGGACCCGGCTGTGGTAG	0.642													10	71					0	0	0.335167	0	0	A	178483090	G	A	178483090	3	1	129	1	0	0	0	0	1	0	0	0	16760	1115	39	1	1661	1	TTC30A	2	178483090	Missense_Mutation	SNP	G	TCGA-G9-6356-01A-11D-1786-08	108352729	178483090	64716283	6	6363											
SLC4A3	6508	broad.mit.edu	37	chr2	220502444	220502444	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgaggaaccagcccaatacgGcactgctctcactcatcctc	10	7	7	17	2	2	0	2	0	1	0	5	2	3	1	3	2	4	2	3	2	3	1			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr2:220502444G>A	ENST00000358055.3	+	17	3189	c.2677G>A	c.(2677-2679)Gca>Aca	p.A893T	SLC4A3_ENST00000373762.3_Missense_Mutation_p.A920T|SLC4A3_ENST00000373760.2_Missense_Mutation_p.A893T|SLC4A3_ENST00000273063.6_Missense_Mutation_p.A920T|SLC4A3_ENST00000317151.3_Missense_Mutation_p.A893T			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	893	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	p.A920T(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCCAATACGGCACTGCTCTC	0.657													3	56					0	0	0.150653	0	0	A	220502444	G	A	220502444	3	1	129	1	0	0	0	0	1	0	0	0	14710	1203	42	2	2820	2	SLC4A3	2	220502444	Missense_Mutation	SNP	G	TCGA-G9-6356-01A-11D-1786-08	42019354	220502444	22696929	7	6364											
ABCF3	55324	broad.mit.edu	37	chr3	183908945	183908945	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgagaagttctcgccgccaAttctgcagctagatgaggtg	9	11	12	9	2	2	3	0	2	2	2	3	4	2	3	2	1	2	3	2	1	3	4	rs140615216		TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr3:183908945A>C	ENST00000429586.2	+	16	1656	c.1471A>C	c.(1471-1473)Att>Ctt	p.I491L	EIF2B5_ENST00000444495.1_Intron|ABCF3_ENST00000292808.5_Missense_Mutation_p.I485L	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	491							ATP binding|ATPase activity	p.I491L(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CTCGCCGCCAATTCTGCAGCT	0.557													8	119					0	0	0.307466	0	0	C	183908945	A	C	183908945	3	2	129	1	0	0	0	0	1	0	0	0	67	101	4	5	1533	5	ABCF3	3	183908945	Missense_Mutation	SNP	A	TCGA-G9-6356-01A-11D-1786-08		183908945	14113485	8	6365											
TBC1D9	23158	broad.mit.edu	37	chr4	141543453	141543453	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctggccatcatgcacacggGcttgtcaaagtacttgacca	10	9	9	13	1	2	1	2	1	0	0	2	1	2	1	3	2	2	3	3	2	2	3			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr4:141543453G>T	ENST00000442267.2	-	21	3771	c.3697C>A	c.(3697-3699)Ccc>Acc	p.P1233T		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	1233						intracellular	calcium ion binding|Rab GTPase activator activity	p.P1233T(2)		endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				ATGCACACGGGCTTGTCAAAG	0.592													9	53					0.00448238	0.00519549	0.307466	1	0	T	141543453	G	T	141543453	3	4	129	1	0	0	0	0	1	0	0	0	15687	1203	42	4	107	4	TBC1D9	4	141543453	Missense_Mutation	SNP	G	TCGA-G9-6356-01A-11D-1786-08		141543453	49610823	9	6366											
RXFP1	59350	broad.mit.edu	37	chr4	159567948	159567948	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctatgactcctctaggtgccGactgcttaatgggaatatat	10	13	9	9	1	1	1	0	1	1	0	2	3	2	2	2	2	2	1	2	2	6	5			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr4:159567948G>A	ENST00000307765.5	+	16	1602	c.1351G>A	c.(1351-1353)Gac>Aac	p.D451N	RXFP1_ENST00000470033.1_Missense_Mutation_p.D418N|RXFP1_ENST00000448688.2_Missense_Mutation_p.D346N|RXFP1_ENST00000343542.5_Missense_Mutation_p.D403N|RXFP1_ENST00000460056.2_Missense_Mutation_p.D370N	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	451						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	p.D451N(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		TCTAGGTGCCGACTGCTTAAT	0.348													9	85					0	0	0.335167	0	0	A	159567948	G	A	159567948	3	1	129	1	0	0	0	0	1	0	0	0	13811	1058	37	1	1413	1	RXFP1	4	159567948	Missense_Mutation	SNP	G	TCGA-G9-6356-01A-11D-1786-08	18024495	159567948	31586328	10	6367											
CEP72	55722	broad.mit.edu	37	chr5	648008	648008	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacaagatccaggagctcacGcagatgctgcaggagagcca	13	4	13	11	1	1	3	1	0	0	3	2	6	2	4	2	2	4	4	2	2	1	0	rs142569661		TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr5:648008G>A	ENST00000264935.5	+	11	1845	c.1755G>A	c.(1753-1755)acG>acA	p.T585T	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	585					G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol		p.T585T(1)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			AGGAGCTCACGCAGATGCTGC	0.602													5	39					0	0	0.184627	0	0	A	648008	G	A	648008	2	1	129	1	0	0	0	0	0	0	0	1	3282	1074	38	1		1	CEP72	5	648008	Silent	SNP	G	TCGA-G9-6356-01A-11D-1786-08		648008	180267252	11	6368											
MSH3	4437	broad.mit.edu	37	chr5	79952234	79952234	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaccttcccgatataggctaCagaaattgacagaagaaaga	18	7	8	8	1	0	5	0	1	0	4	1	6	1	5	2	1	2	1	2	1	7	5			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr5:79952234C>A	ENST00000265081.6	+	2	322	c.242C>A	c.(241-243)aCa>aAa	p.T81K		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	81	Interaction with EXO1.				maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding	p.T81K(1)|p.T72K(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		ATATAGGCTACAGAAATTGAC	0.388								Mismatch excision repair (MMR)					10	140					1.08611e-07	1.38479e-07	0.38729	1	0	A	79952234	C	A	79952234	3	1	129	1	0	0	0	0	1	0	0	0	9920	478	17	4	248	4	MSH3	5	79952234	Missense_Mutation	SNP	C	TCGA-G9-6356-01A-11D-1786-08	79304226	79952234	100963026	12	6369											
HLA-F	3134	broad.mit.edu	37	chr6	29694720	29694720	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtcaagcttatttctcctggGggtgctcttccaaggatatt	7	15	10	9	0	3	0	1	0	2	0	5	1	4	1	2	3	2	2	2	3	4	5			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr6:29694720G>A	ENST00000440587.2	+	6	1069	c.710G>A	c.(709-711)gGg>gAg	p.G237E	HLA-F_ENST00000475996.1_Intron|HLA-F_ENST00000259951.7_Missense_Mutation_p.G366E			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	0	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity	p.G366E(1)		cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						TTTCTCCTGGGGGTGCTCTTC	0.498													11	132					0	0	0.38729	0	0	A	29694720	G	A	29694720	3	1	129	1	0	0	0	0	1	0	0	0	7252	1232	43	2	1132	2	HLA-F	6	29694720	Missense_Mutation	SNP	G	TCGA-G9-6356-01A-11D-1786-08		29694720	141420347	13	6370											
PEG10	23089	broad.mit.edu	37	chr7	94293246	94293246	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgtgacaagcatgatgacCggccgtgctgcccgttgggc	6	9	14	12	4	0	3	0	3	0	0	1	3	0	3	3	2	3	3	3	2	1	2			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr7:94293246C>T	ENST00000482108.1	+	2	857	c.378C>T	c.(376-378)acC>acT	p.T126T	PEG10_ENST00000488574.1_Silent_p.T126T	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10	126	Necessary for interaction with ALK1.				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	p.T126T(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			GCATGATGACCGGCCGTGCTG	0.532													7	99					0	0	0.27861	0	0	T	94293246	C	T	94293246	2	4	129	1	0	0	0	0	0	0	0	1	11766	643	23	1		1	PEG10	7	94293246	Silent	SNP	C	TCGA-G9-6356-01A-11D-1786-08		94293246	64845417	14	6371											
ADAM28	10863	broad.mit.edu	37	chr8	24199261	24199261	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaatggaactaagtgtggCgataacaaggtaagttgaaa	16	8	12	5	1	0	1	0	1	0	0	0	3	0	2	1	3	2	2	1	3	7	4	rs149263503	byFrequency	TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr8:24199261C>T	ENST00000265769.4	+	16	1931	c.1821C>T	c.(1819-1821)ggC>ggT	p.G607G	RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000397649.3_Silent_p.G354G	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	607	Cys-rich.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	p.G607G(2)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CTAAGTGTGGCGATAACAAGG	0.408													5	89					0	0	0.184627	0	0	T	24199261	C	T	24199261	2	4	129	1	0	0	0	0	0	0	0	1	245	755	27	1		1	ADAM28	8	24199261	Silent	SNP	C	TCGA-G9-6356-01A-11D-1786-08		24199261	122164761	15	6372											
OC90	729330	broad.mit.edu	37	chr8	133053386	133053386	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggcctcctcatagcacctgCggtgctggaagcagcagctg	7	7	13	14	2	1	0	1	0	0	0	2	1	2	1	3	3	6	5	3	3	2	1			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr8:133053386C>T	ENST00000262283.5	-	9	1049	c.950G>A	c.(949-951)cGc>cAc	p.R317H	OC90_ENST00000603859.1_Missense_Mutation_p.R121H|OC90_ENST00000443356.2_Missense_Mutation_p.R121H|OC90_ENST00000254627.3_Missense_Mutation_p.R121H			Q02509	OC90_HUMAN	otoconin 90	121					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity	p.R317H(1)|p.R127H(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			ATAGCACCTGCGGTGCTGGAA	0.557													5	94					0	0	0.217242	0	0	T	133053386	C	T	133053386	3	4	129	1	0	0	0	0	1	0	0	0	10862	768	27	1	1107	1	OC90	8	133053386	Missense_Mutation	SNP	C	TCGA-G9-6356-01A-11D-1786-08	108854125	133053386	13310636	16	6373											
LHX3	8022	broad.mit.edu	37	chr9	139091593	139091593	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccatgaggtagaactcgtCgcccgtggccagctgccgct	6	8	12	15	4	0	2	0	1	0	1	3	2	1	2	4	2	3	3	4	2	2	1	rs142521088		TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr9:139091593C>A	ENST00000371746.3	-	3	518	c.400G>T	c.(400-402)Gac>Tac	p.D134Y	LHX3_ENST00000371748.5_Missense_Mutation_p.D129Y	NM_014564.3	NP_055379.1	Q9UBR4	LHX3_HUMAN	LIM homeobox 3	129	LIM zinc-binding 2.				inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D134Y(1)		large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		TAGAACTCGTCGCCCGTGGCC	0.672													9	38					1.12685e-05	1.36832e-05	0.307466	1	0	A	139091593	C	A	139091593	3	1	129	1	0	0	0	0	1	0	0	0	8812	884	31	4	824	4	LHX3	9	139091593	Missense_Mutation	SNP	C	TCGA-G9-6356-01A-11D-1786-08		139091593	2121838	17	6374											
NTM	50863	broad.mit.edu	37	chr11	132081914	132081914	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattctgtcttgtttccacAgtatctcccaaaattgtaga	10	16	5	10	0	4	1	1	0	3	1	6	1	5	1	2	0	0	3	2	0	4	6			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr11:132081914A>C	ENST00000374786.1	+	3	879		c.e3-1		NTM_ENST00000539799.1_Splice_Site|NTM_ENST00000427481.2_Splice_Site|NTM_ENST00000374791.3_Splice_Site|NTM_ENST00000425719.2_Splice_Site|NTM_ENST00000374784.1_Splice_Site|NTM_ENST00000474900.1_Splice_Site	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin						cell adhesion|neuron recognition	anchored to membrane|plasma membrane		p.?(2)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						TTGTTTCCACAGTATCTCCCA	0.383													4	35					0	0	0.150653	0	0	C	132081914	A	C	132081914	5	2	129	1	0	0	0	0	0	0	1	0	10747	202	7	5	495	5	NTM	11	132081914	Splice_Site	SNP	A	TCGA-G9-6356-01A-11D-1786-08		132081914	2924602	18	6375											
CHD4	1108	broad.mit.edu	37	chr12	6686950	6686950	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tattcctccccaaccgctcaCcttaaaccttcgagctagaa	11	10	4	16	2	1	1	1	0	0	1	4	2	3	1	6	0	3	2	6	0	6	5			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr12:6686950C>T	ENST00000309577.6	-	36	5609		c.e36+1		CHD4_ENST00000357008.2_Splice_Site|CHD4_ENST00000544040.1_Splice_Site|CHD4_ENST00000544484.1_Splice_Site			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4						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	p.?(3)		central_nervous_system(2)	2						CAACCGCTCACCTTAAACCTT	0.463													4	84					0	0	0.150653	0	0	T	6686950	C	T	6686950	5	4	129	1	0	0	0	0	0	0	1	0	3349	521	18	2	392	2	CHD4	12	6686950	Splice_Site	SNP	C	TCGA-G9-6356-01A-11D-1786-08		6686950	127164945	19	6376											
CHD4	1108	broad.mit.edu	37	chr12	6696651	6696651	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcagtctcatcctggttacGgtctagcagccgttcaatgg	7	13	10	11	2	4	0	3	0	2	0	6	0	5	0	2	3	3	3	2	3	3	4			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr12:6696651G>A	ENST00000309577.6	-	25	3941	c.3778C>T	c.(3778-3780)Cgt>Tgt	p.R1260C	CHD4_ENST00000357008.2_Missense_Mutation_p.R1260C|CHD4_ENST00000544040.1_Missense_Mutation_p.R1253C|CHD4_ENST00000540960.1_5'UTR|CHD4_ENST00000544484.1_Missense_Mutation_p.R1257C			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1260					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	p.R1260C(3)		central_nervous_system(2)	2						TCCTGGTTACGGTCTAGCAGC	0.458													22	150					0	0	0.639603	0	0	A	6696651	G	A	6696651	3	1	129	1	0	0	0	0	1	0	0	0	3349	1116	39	1	2024	1	CHD4	12	6696651	Missense_Mutation	SNP	G	TCGA-G9-6356-01A-11D-1786-08	9701	6696651	127155244	20	6377											
PLEKHA5	54477	broad.mit.edu	37	chr12	19511256	19511256	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggaaagaataagaagacAtcaacaagcgtgcctgaggg	18	5	12	6	1	1	4	1	1	0	3	1	5	1	5	1	2	3	0	1	2	7	1			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr12:19511256A>G	ENST00000538714.1	+	23	2913	c.2909A>G	c.(2908-2910)cAt>cGt	p.H970R	PLEKHA5_ENST00000299275.6_Missense_Mutation_p.H912R|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.H856R|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.H670R|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.H970R|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.H901R|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.H894R|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.H975R|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.H1078R	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	912				P -> S (in Ref. 6; BAA91742).			1-phosphatidylinositol binding|protein binding	p.H912R(2)|p.H1073R(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					ATAAGAAGACATCAACAAGCG	0.433													4	36					0	0	0.150653	0	0	G	19511256	A	G	19511256	3	3	129	1	0	0	0	0	1	0	0	0	12107	217	8	3	3135	3	PLEKHA5	12	19511256	Missense_Mutation	SNP	A	TCGA-G9-6356-01A-11D-1786-08	12814605	19511256	114340639	21	6378											
PFKM	5213	broad.mit.edu	37	chr12	48533667	48533667	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgggaggtgtacaagcttcTagctcatgtcagacccccgg	8	9	12	12	1	3	1	2	0	1	1	3	2	3	2	2	3	3	3	2	3	3	3			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr12:48533667T>C	ENST00000340802.6	+	15	1600	c.1376T>C	c.(1375-1377)cTa>cCa	p.L459P	PFKM_ENST00000312352.7_Missense_Mutation_p.L388P|PFKM_ENST00000395233.2_Missense_Mutation_p.L357P|PFKM_ENST00000359794.5_Missense_Mutation_p.L388P|PFKM_ENST00000551804.1_Missense_Mutation_p.L357P|PFKM_ENST00000547587.1_Missense_Mutation_p.L388P	NM_001166686.1	NP_001160158.1	P08237	K6PF_HUMAN	phosphofructokinase, muscle	388					fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding	p.L388P(1)		NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TACAAGCTTCTAGCTCATGTC	0.512													4	37					0	0	0.150653	0	0	C	48533667	T	C	48533667	3	2	129	1	0	0	0	0	1	0	0	0	11813	1522	53	3	1430	3	PFKM	12	48533667	Missense_Mutation	SNP	T	TCGA-G9-6356-01A-11D-1786-08	29022411	48533667	85318228	22	6379											
KRT83	3889	broad.mit.edu	37	chr12	52709845	52709845	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcagcgggcatcactgaggGccgcctcaccctgctgctca	6	7	12	16	2	3	1	3	1	0	0	3	1	3	1	3	2	4	4	3	2	0	0			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr12:52709845G>T	ENST00000293670.3	-	7	1156	c.1094C>A	c.(1093-1095)gCc>gAc	p.A365D		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	365	Coil 2.|Rod.				epidermis development	keratin filament	structural molecule activity	p.A365D(2)		NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		ATCACTGAGGGCCGCCTCACC	0.597													6	47					0.217242	0.235731	0.217242	1	0	T	52709845	G	T	52709845	3	4	129	1	0	0	0	0	1	0	0	0	8540	1203	42	4	399	4	KRT83	12	52709845	Missense_Mutation	SNP	G	TCGA-G9-6356-01A-11D-1786-08	4176178	52709845	81142050	23	6380											
LRIG3	121227	broad.mit.edu	37	chr12	59282122	59282122	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaactcacagctcactgagCttctggcagaactcccaggc	10	7	9	15	0	3	2	2	1	1	1	4	2	4	2	1	2	4	4	1	2	2	1			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr12:59282122C>G	ENST00000320743.3	-	7	1222	c.936G>C	c.(934-936)aaG>aaC	p.K312N	LRIG3_ENST00000379141.4_Missense_Mutation_p.K252N	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	312						integral to membrane		p.K312N(2)	LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			GCTCACTGAGCTTCTGGCAGA	0.493			T	ROS1	NSCLC								8	77					0	0	0.27861	0	0	G	59282122	C	G	59282122	3	3	129	1	0	0	0	0	1	0	0	0	8991	796	28	4	2475	4	LRIG3	12	59282122	Missense_Mutation	SNP	C	TCGA-G9-6356-01A-11D-1786-08	6572277	59282122	74569773	24	6381											
ZFC3H1	196441	broad.mit.edu	37	chr12	72036214	72036214	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtttcaagttttggctcatAcctggagaactggtttcact	8	15	10	8	0	3	1	3	0	0	1	3	2	3	1	1	4	2	4	1	4	3	5			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr12:72036214A>C	ENST00000378743.3	-	6	1986		c.e6+1			NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing						RNA processing	intracellular	metal ion binding	p.?(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TTTGGCTCATACCTGGAGAAC	0.343													7	68					0	0	0.248553	0	0	C	72036214	A	C	72036214	5	2	129	1	0	0	0	0	0	0	1	0	17691	405	14	5	4460	5	ZFC3H1	12	72036214	Splice_Site	SNP	A	TCGA-G9-6356-01A-11D-1786-08	12754092	72036214	61815681	25	6382											
ANO4	121601	broad.mit.edu	37	chr12	101488062	101488062	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagttgccctgcttctgaCgaatttaggtgagtggaatc	11	12	11	7	1	1	2	0	2	1	0	2	4	1	3	1	2	2	2	1	2	5	4			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr12:101488062C>T	ENST00000392979.3	+	17	1986	c.1625C>T	c.(1624-1626)aCg>aTg	p.T542M	ANO4_ENST00000392977.3_Missense_Mutation_p.T577M|ANO4_ENST00000550015.1_Missense_Mutation_p.T97M|ANO4_ENST00000299222.9_Missense_Mutation_p.T97M	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	577						chloride channel complex	chloride channel activity	p.T542M(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CTGCTTCTGACGAATTTAGGT	0.328										HNSCC(74;0.22)			5	55					0	0	0.184627	0	0	T	101488062	C	T	101488062	3	4	129	1	0	0	0	0	1	0	0	0	693	536	19	1	1687	1	ANO4	12	101488062	Missense_Mutation	SNP	C	TCGA-G9-6356-01A-11D-1786-08	29451848	101488062	32363833	26	6383											
ANAPC5	51433	broad.mit.edu	37	chr12	121746472	121746472	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tagttcttggcttcattgagGttctcgatggcagcctccag	6	14	11	10	1	3	1	1	1	2	0	5	2	4	1	2	3	1	4	2	3	1	6			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr12:121746472G>T	ENST00000261819.3	-	17	2200	c.2079C>A	c.(2077-2079)aaC>aaA	p.N693K	ANAPC5_ENST00000541887.1_Missense_Mutation_p.N680K|ANAPC5_ENST00000441917.2_Missense_Mutation_p.N581K|ANAPC5_ENST00000535482.1_Missense_Mutation_p.N359K|ANAPC5_ENST00000344395.4_Missense_Mutation_p.N581K|ANAPC5_ENST00000544314.1_5'UTR	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	693					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	p.N693K(2)		breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CTTCATTGAGGTTCTCGATGG	0.453													7	103					1.12685e-05	1.36832e-05	0.307466	1	0	T	121746472	G	T	121746472	3	4	129	1	0	0	0	0	1	0	0	0	601	1252	44	4	192	4	ANAPC5	12	121746472	Missense_Mutation	SNP	G	TCGA-G9-6356-01A-11D-1786-08	20258410	121746472	12105423	27	6384											
TTLL5	23093	broad.mit.edu	37	chr14	76224211	76224211	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttattgacaggaagaacaCggtaattgacttttaaaagt	15	12	9	5	1	0	3	0	2	0	1	0	4	0	4	0	2	1	2	0	2	6	6			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr14:76224211C>T	ENST00000556893.1	+	4	272	c.203_splice	c.e4+1	p.R68_splice	TTLL5_ENST00000554510.1_Splice_Site_p.R26_splice|TTLL5_ENST00000298832.9_Intron|TTLL5_ENST00000557636.1_Intron|TTLL5_ENST00000555422.1_Intron			Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	517	TTL.				protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		AGGAAGAACACGGTAATTGAC	0.383													3	53					0	0	0.115264	0	0	T	76224211	C	T	76224211	5	4	129	1	0	0	0	0	0	0	1	0	16792	551	19	1		1	TTLL5	14	76224211	Splice_Site	SNP	C	TCGA-G9-6356-01A-11D-1786-08		76224211	31125329	28	6385											
PLA2G4F	255189	broad.mit.edu	37	chr15	42446634	42446634	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccgtgggcagccacagttgCacatagcagtcggctttgga	8	8	14	11	2	0	0	0	0	0	0	1	1	0	1	2	3	3	5	2	3	1	3			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr15:42446634C>T	ENST00000397272.3	-	3	298	c.207G>A	c.(205-207)gtG>gtA	p.V69V	PLA2G4F_ENST00000382396.4_Silent_p.V69V	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	69	C2.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	p.V69V(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		GCCACAGTTGCACATAGCAGT	0.597													5	32					0	0	0.184627	0	0	T	42446634	C	T	42446634	2	4	129	1	0	0	0	0	0	0	0	1	12054	697	25	2		2	PLA2G4F	15	42446634	Silent	SNP	C	TCGA-G9-6356-01A-11D-1786-08		42446634	60084758	29	6386											
USH1G	124590	broad.mit.edu	37	chr17	72915904	72915904	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagctctgcagccgaccccGcggcgctcccaccccatcca	6	4	10	21	4	1	0	0	0	1	0	3	2	3	1	7	2	3	3	7	2	0	0			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr17:72915904G>A	ENST00000319642.1	-	2	1209	c.1027C>T	c.(1027-1029)Cgg>Tgg	p.R343W		NM_173477.2	NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	343					equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton		p.R343W(1)	HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					AGCCGACCCCGCGGCGCTCCC	0.687													4	84					0	0	0.184627	0	0	A	72915904	G	A	72915904	3	1	129	1	0	0	0	0	1	0	0	0	17095	1086	38	1	366	1	USH1G	17	72915904	Missense_Mutation	SNP	G	TCGA-G9-6356-01A-11D-1786-08		72915904	8279306	30	6387											
DNAH17	8632	broad.mit.edu	37	chr17	76459153	76459153	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagctgatggaggccttgaCttcccactacaaagatgaga	13	8	11	9	0	0	4	0	3	0	2	1	7	1	5	2	2	2	1	2	2	3	3			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr17:76459153C>T	ENST00000389840.5	-	57	9029	c.8905G>A	c.(8905-8907)Gtc>Atc	p.V2969I	DNAH17_ENST00000585328.1_Missense_Mutation_p.V2978I|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17									p.V2978I(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GAGGCCTTGACTTCCCACTAC	0.562													3	27					0	0	0.150653	0	0	T	76459153	C	T	76459153	3	4	129	1	0	0	0	0	1	0	0	0	4629	565	20	2	4541	2	DNAH17	17	76459153	Missense_Mutation	SNP	C	TCGA-G9-6356-01A-11D-1786-08	3543249	76459153	4736057	31	6388											
PSG1	0	broad.mit.edu	37	chr19	43372318	43372318	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgagttacgaacagagcaaAcatagagcccgctatgcttt	13	9	9	10	2	0	3	0	1	0	2	0	4	0	3	1	0	6	4	1	0	5	4	rs1058795		TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr19:43372318A>G	ENST00000244296.2	-	5	1315	c.1178T>C	c.(1177-1179)gTt>gCt	p.V393A	PSG1_ENST00000436291.2_Missense_Mutation_p.V393A|PSG1_ENST00000595356.1_Missense_Mutation_p.V393A|PSG1_ENST00000595124.1_Missense_Mutation_p.V300A|PSG1_ENST00000403380.3_Missense_Mutation_p.V300A|PSG1_ENST00000312439.6_Missense_Mutation_p.V393A	NM_006905.2	NP_008836.2			pregnancy specific beta-1-glycoprotein 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				AACAGAGCAAACATAGAGCCC	0.458													6	242					0	0	0.217242	0	0	G	43372318	A	G	43372318	3	3	129	1	0	0	0	0	1	0	0	0	12702	43	2	3	142	3	PSG1	19	43372318	Missense_Mutation	SNP	A	TCGA-G9-6356-01A-11D-1786-08		43372318	15756665	32	6389											
LILRA4	23547	broad.mit.edu	37	chr19	54849889	54849889	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctgacaccagatggtcaCggggttatgccaggtgatca	9	8	13	11	1	2	3	2	2	0	1	2	3	2	3	3	4	1	1	3	4	1	1			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr19:54849889C>T	ENST00000291759.4	-	3	189	c.133G>A	c.(133-135)Gtg>Atg	p.V45M		NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	45	Ig-like C2-type 1.					integral to membrane	receptor activity	p.V45M(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CAGATGGTCACGGGGTTATGC	0.537											OREG0003656	type=REGULATORY REGION|Gene=LILRA4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	7	98					0	0	0.27861	0	0	T	54849889	C	T	54849889	3	4	129	1	0	0	0	0	1	0	0	0	8827	536	19	1	1390	1	LILRA4	19	54849889	Missense_Mutation	SNP	C	TCGA-G9-6356-01A-11D-1786-08	11477571	54849889	4279094	33	6390											
ZNF134	7693	broad.mit.edu	37	chr19	58132430	58132430	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtattcacactggagaaaatCcttatgattgcagtgattgt	12	14	9	6	0	1	3	1	2	0	1	2	4	2	3	1	1	1	2	1	1	4	5			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr19:58132430C>T	ENST00000396161.5	+	3	1253	c.943C>T	c.(943-945)Cct>Tct	p.P315S		NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN	zinc finger protein 134	315						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P315S(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		TGGAGAAAATCCTTATGATTG	0.418													4	104					0	0	0.184627	0	0	T	58132430	C	T	58132430	3	4	129	1	0	0	0	0	1	0	0	0	17782	855	30	2	949	2	ZNF134	19	58132430	Missense_Mutation	SNP	C	TCGA-G9-6356-01A-11D-1786-08	3282541	58132430	996553	34	6391											
GART	2618	broad.mit.edu	37	chr21	34903824	34903824	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctccgtcaagaagttcttCaatgacaattgtttctccag	10	15	6	10	1	5	2	2	1	3	1	7	2	5	2	2	0	0	2	2	0	4	5			TCGA-G9-6356-01A-11D-1786-08	TCGA-G9-6356-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2bdbfc0-d13e-4d0f-904b-05c033a72b77	56d3cf13-362a-4701-850e-bd8cf98ac9a4	g.chr21:34903824C>A	ENST00000381831.3	-	6	831	c.568G>T	c.(568-570)Gaa>Taa	p.E190*	GART_ENST00000361093.5_Nonsense_Mutation_p.E190*|GART_ENST00000381839.3_Nonsense_Mutation_p.E190*|GART_ENST00000497313.1_5'UTR|GART_ENST00000381815.4_Nonsense_Mutation_p.E190*	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	190	ATP-grasp.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding	p.E190*(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	AGAAGTTCTTCAATGACAATT	0.353													16	168					5.01169e-05	5.9441e-05	0.520397	1	0	A	34903824	C	A	34903824	4	1	129	1	0	0	0	0	0	1	0	0	6283	835	29	4	2536	4	GART	21	34903824	Nonsense_Mutation	SNP	C	TCGA-G9-6356-01A-11D-1786-08		34903824	13226071	35	6392											
RHOC	389	broad.mit.edu	37	chr1	113245708	113245708	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccgcagtcgatcatagtcttCctgccctgctgtgtcccaca	6	11	8	16	2	2	0	1	0	1	0	5	1	4	0	4	0	2	2	4	0	1	2			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr1:113245708C>T	ENST00000285735.2	-	4	1399	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	RHOC_ENST00000369633.2_Missense_Mutation_p.E64K|RHOC_ENST00000369636.2_Missense_Mutation_p.E64K|RHOC_ENST00000369637.1_Missense_Mutation_p.E64K|RHOC_ENST00000369638.2_Missense_Mutation_p.E64K|RHOC_ENST00000369642.3_Missense_Mutation_p.E64K|RP11-426L16.10_ENST00000471038.2_5'UTR|RP11-426L16.10_ENST00000606505.1_Missense_Mutation_p.G227E|RHOC_ENST00000369632.2_Missense_Mutation_p.E64K|RHOC_ENST00000339083.7_Missense_Mutation_p.E64K			P08134	RHOC_HUMAN	ras homolog family member C	64					axon guidance|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCATAGTCTTCCTGCCCTGCT	0.612													9	46					0	0	0.004482	0	0	T	113245708	C	T	113245708	3	4	130	1	0	0	0	0	1	0	0	0	13386	864	30	2	403	2	RHOC	1	113245708	Missense_Mutation	SNP	C	TCGA-G9-6361-01A-21D-1961-08		113245708	136004913	1	6393											
TTF2	8458	broad.mit.edu	37	chr1	117631499	117631499	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcacaatgttaagaatccccGagtgcagacttccatagctg	12	10	8	11	1	1	2	1	0	0	2	3	3	3	2	3	0	2	3	3	0	4	3			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr1:117631499G>A	ENST00000369466.3	+	13	2281	c.2237G>A	c.(2236-2238)cGa>cAa	p.R746Q		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	746	Helicase ATP-binding.				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		AAGAATCCCCGAGTGCAGACT	0.473													5	171					0	0	0.001168	0	0	A	117631499	G	A	117631499	3	1	130	1	0	0	0	0	1	0	0	0	16781	1058	37	1	2287	1	TTF2	1	117631499	Missense_Mutation	SNP	G	TCGA-G9-6361-01A-21D-1961-08	4385791	117631499	131619122	2	6394											
KIAA0907	22889	broad.mit.edu	37	chr1	155891693	155891693	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taatctgattcacaaatctaGagtattcagcatgaacctga	15	12	6	8	0	4	4	2	3	2	1	4	4	4	4	1	0	2	2	1	0	5	5			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr1:155891693G>C	ENST00000368320.3	-	9	996	c.971C>G	c.(970-972)tCt>tGt	p.S324C	KIAA0907_ENST00000482337.1_5'UTR|KIAA0907_ENST00000368321.3_Missense_Mutation_p.S324C|KIAA0907_ENST00000368319.3_Missense_Mutation_p.S324C			Q7Z7F0	K0907_HUMAN	KIAA0907	324										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			CACAAATCTAGAGTATTCAGC	0.363													9	24					0	0	0.004482	0	0	C	155891693	G	C	155891693	3	2	130	1	0	0	0	0	1	0	0	0	8241	942	33	4	897	4	KIAA0907	1	155891693	Missense_Mutation	SNP	G	TCGA-G9-6361-01A-21D-1961-08	38260194	155891693	93358928	3	6395											
KCNT2	343450	broad.mit.edu	37	chr1	196285089	196285089	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttcctcggcactcatggTgctctctttatccacaacca	7	13	6	15	1	3	0	1	0	2	0	7	0	5	0	3	2	2	2	3	2	2	3			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr1:196285089T>A	ENST00000367433.5	-	20	2445	c.2344A>T	c.(2344-2346)Acc>Tcc	p.T782S	KCNT2_ENST00000367431.4_Missense_Mutation_p.T732S|KCNT2_ENST00000294725.8_Missense_Mutation_p.T806S|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_3'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	806						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GCACTCATGGTGCTCTCTTTA	0.433													14	23					0	0	0.003163	0	0	A	196285089	T	A	196285089	3	1	130	1	0	0	0	0	1	0	0	0	8136	1696	59	5	1023	5	KCNT2	1	196285089	Missense_Mutation	SNP	T	TCGA-G9-6361-01A-21D-1961-08	40393396	196285089	52965532	4	6396											
KCNT2	343450	broad.mit.edu	37	chr1	196398768	196398768	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacaaaaagcttggaggacCatgtttcaggagtgacatcc	13	9	10	9	0	1	1	1	1	0	0	2	4	2	4	2	3	2	2	2	3	3	3			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr1:196398768C>A	ENST00000367433.5	-	9	859	c.758G>T	c.(757-759)tGg>tTg	p.W253L	KCNT2_ENST00000367431.4_Missense_Mutation_p.W253L|KCNT2_ENST00000294725.8_Missense_Mutation_p.W253L|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_Intron			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	253						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CTTGGAGGACCATGTTTCAGG	0.408													15	28					4.14922e-12	5.60913e-12	0.004007	1	0	A	196398768	C	A	196398768	3	1	130	1	0	0	0	0	1	0	0	0	8136	595	21	4	2729	4	KCNT2	1	196398768	Missense_Mutation	SNP	C	TCGA-G9-6361-01A-21D-1961-08	113679	196398768	52851853	5	6397											
IL20	50604	broad.mit.edu	37	chr1	207040805	207040805	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctgagtcactttgaaaaggTatatgcgactttggcattga	11	14	10	6	1	2	3	1	3	1	0	2	4	2	3	0	2	1	2	0	2	4	5			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr1:207040805T>C	ENST00000367098.1	+	5	816		c.e5+2		IL20_ENST00000367096.3_Splice_Site|IL20_ENST00000391930.2_Intron			Q9NYY1	IL20_HUMAN	interleukin 20						positive regulation of keratinocyte differentiation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of inflammatory response	extracellular space	cytokine activity|interleukin-20 receptor binding			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)|urinary_tract(1)	9	Breast(84;0.201)			OV - Ovarian serous cystadenocarcinoma(81;0.00459)		TTTGAAAAGGTATATGCGACT	0.428													3	70					0	0	0.004672	0	0	C	207040805	T	C	207040805	5	2	130	1	0	0	0	0	0	0	1	0	7711	1652	57	3	469	3	IL20	1	207040805	Splice_Site	SNP	T	TCGA-G9-6361-01A-21D-1961-08	10642037	207040805	42209816	6	6398											
TCF7L1	83439	broad.mit.edu	37	chr2	85533435	85533435	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agatgagggccaaggtggtgGctgagtgcaccctgaaggaa	11	6	17	7	0	0	4	0	3	0	1	0	5	0	5	2	5	1	2	2	5	3	0			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr2:85533435G>A	ENST00000282111.3	+	9	1371	c.1096G>A	c.(1096-1098)Gct>Act	p.A366T		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	366					chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						CAAGGTGGTGGCTGAGTGCAC	0.542													11	72					0	0	0.000978	0	0	A	85533435	G	A	85533435	3	1	130	1	0	0	0	0	1	0	0	0	15757	1203	42	2	1130	2	TCF7L1	2	85533435	Missense_Mutation	SNP	G	TCGA-G9-6361-01A-21D-1961-08		85533435	157665938	7	6399											
SACM1L	22908	broad.mit.edu	37	chr3	45776852	45776852	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttagctcgtcgttcacttcAggcccaacttcaggtgcgaa	8	11	10	12	3	3	0	3	0	0	0	5	1	3	0	1	2	3	3	1	2	3	4			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr3:45776852A>G	ENST00000389061.5	+	14	1430	c.1226A>G	c.(1225-1227)cAg>cGg	p.Q409R	SACM1L_ENST00000541314.1_Missense_Mutation_p.Q348R|SACM1L_ENST00000418611.1_Missense_Mutation_p.Q306R	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN	SAC1 suppressor of actin mutations 1-like (yeast)	409	SAC.					Golgi apparatus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		CGTTCACTTCAGGCCCAACTT	0.383													3	80					0	0	0.009096	0	0	G	45776852	A	G	45776852	3	3	130	1	0	0	0	0	1	0	0	0	13855	188	7	3	1280	3	SACM1L	3	45776852	Missense_Mutation	SNP	A	TCGA-G9-6361-01A-21D-1961-08		45776852	152245578	8	6400											
DHX30	22907	broad.mit.edu	37	chr3	47884611	47884611	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtagaacctcatgcagttcCatactgtgggcaccaagacc	11	9	9	12	0	1	2	1	0	0	2	2	2	2	2	4	1	3	4	4	1	4	3			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr3:47884611C>G	ENST00000446256.2	+	10	1260	c.688C>G	c.(688-690)Cat>Gat	p.H230D	DHX30_ENST00000348968.4_Missense_Mutation_p.H241D|DHX30_ENST00000457607.1_Missense_Mutation_p.H297D|DHX30_ENST00000445061.1_Missense_Mutation_p.H269D	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	269						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CATGCAGTTCCATACTGTGGG	0.537													56	143					0	0	0.00361	0	0	G	47884611	C	G	47884611	3	3	130	1	0	0	0	0	1	0	0	0	4532	594	21	4	842	4	DHX30	3	47884611	Missense_Mutation	SNP	C	TCGA-G9-6361-01A-21D-1961-08	2107759	47884611	150137819	9	6401											
ARL6	84100	broad.mit.edu	37	chr3	97499479	97499479	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtcatttacagtgtttgAcatgtcaggtcaaggaagat	11	15	10	5	0	3	2	3	1	0	1	3	3	3	3	0	2	1	1	0	2	3	4			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr3:97499479A>G	ENST00000463745.1	+	4	683	c.206A>G	c.(205-207)gAc>gGc	p.D69G	ARL6_ENST00000335979.2_Missense_Mutation_p.D69G|ARL6_ENST00000496713.1_3'UTR|ARL6_ENST00000394206.1_Missense_Mutation_p.D69G	NM_001278293.1	NP_001265222.1	Q9H0F7	ARL6_HUMAN	ADP-ribosylation factor-like 6	69					cilium assembly|determination of left/right symmetry|melanosome transport|protein polymerization|protein targeting to membrane|small GTPase mediated signal transduction|visual perception|Wnt receptor signaling pathway	axonemal microtubule|cilium axoneme|cilium membrane|membrane coat|microtubule basal body	GTP binding|metal ion binding|phospholipid binding|protein binding			large_intestine(1)|lung(4)	5		Lung NSC(201;0.0193)|Prostate(884;0.174)		LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189)		ACAGTGTTTGACATGTCAGGT	0.269													3	85					0	0	0.009096	0	0	G	97499479	A	G	97499479	3	3	130	1	0	0	0	0	1	0	0	0	940	275	10	3	216	3	ARL6	3	97499479	Missense_Mutation	SNP	A	TCGA-G9-6361-01A-21D-1961-08	49614868	97499479	100522951	10	6402											
A4GNT	51146	broad.mit.edu	37	chr3	137849815	137849815	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtggagtttgagggcatcGgtgtggaatcagtaagaccc	10	10	15	6	1	1	2	1	1	0	1	2	4	1	4	1	4	0	3	1	4	2	2	rs145157166	byFrequency	TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr3:137849815G>A	ENST00000236709.3	-	2	485	c.284C>T	c.(283-285)cCg>cTg	p.P95L		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	95					protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						TGAGGGCATCGGTGTGGAATC	0.478													52	70					0	0	0.00361	0	0	A	137849815	G	A	137849815	3	1	130	1	0	0	0	0	1	0	0	0	7	1116	39	1	746	1	A4GNT	3	137849815	Missense_Mutation	SNP	G	TCGA-G9-6361-01A-21D-1961-08	40350336	137849815	60172615	11	6403											
GK5	256356	broad.mit.edu	37	chr3	141896383	141896383	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agaatcctccaaacttttggCcattttttcagtctcagcag	10	14	6	11	0	2	1	2	0	1	1	5	1	4	1	3	1	2	1	3	1	2	5			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr3:141896383C>A	ENST00000392993.2	-	12	1235	c.1084G>T	c.(1084-1086)Gcc>Tcc	p.A362S		NM_001039547.2	NP_001034636.1	Q6ZS86	GLPK5_HUMAN	glycerol kinase 5 (putative)	362					glycerol metabolic process		ATP binding|glycerol kinase activity			kidney(1)|large_intestine(1)|lung(7)|urinary_tract(1)	10						AAACTTTTGGCCATTTTTTCA	0.333													13	107					6.31663e-08	8.38389e-08	0.003163	1	0	A	141896383	C	A	141896383	3	1	130	1	0	0	0	0	1	0	0	0	6464	739	26	4	525	4	GK5	3	141896383	Missense_Mutation	SNP	C	TCGA-G9-6361-01A-21D-1961-08	4046568	141896383	56126047	12	6404											
JAKMIP1	152789	broad.mit.edu	37	chr4	6107489	6107489	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttcagcgtggcctgcagcCgctgcagctcgccctccttg	3	9	12	17	4	1	0	1	0	0	0	3	0	2	0	4	1	5	5	4	1	0	2			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr4:6107489C>T	ENST00000409021.3	-	3	784	c.335G>A	c.(334-336)cGg>cAg	p.R112Q	JAKMIP1_ENST00000409371.3_Intron|JAKMIP1_ENST00000282924.5_Missense_Mutation_p.R112Q|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.R112Q|JAKMIP1_ENST00000410077.2_Intron|JAKMIP1_ENST00000457227.2_Intron	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	112	Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGCCTGCAGCCGCTGCAGCTC	0.716													6	23					0	0	0.001168	0	0	T	6107489	C	T	6107489	3	4	130	1	0	0	0	0	1	0	0	0	7984	652	23	1	2311	1	JAKMIP1	4	6107489	Missense_Mutation	SNP	C	TCGA-G9-6361-01A-21D-1961-08		6107489	185046787	13	6405											
FRYL	285527	broad.mit.edu	37	chr4	48611011	48611011	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttacaaaacttactttgattGggcaagaacccctatcacct	13	12	5	11	0	1	2	1	1	0	1	1	2	1	2	3	1	4	1	3	1	7	5			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr4:48611011G>A	ENST00000358350.4	-	9	1169	c.565C>T	c.(565-567)Caa>Taa	p.Q189*	FRYL_ENST00000503238.1_Nonsense_Mutation_p.Q189*|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507711.1_Nonsense_Mutation_p.Q189*|FRYL_ENST00000537810.1_Nonsense_Mutation_p.Q189*	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN	FRY-like	189					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TACTTTGATTGGGCAAGAACC	0.323													15	61					0	0	0.004007	0	0	A	48611011	G	A	48611011	4	1	130	1	0	0	0	0	0	1	0	0	6099	1357	47	2	8700	2	FRYL	4	48611011	Nonsense_Mutation	SNP	G	TCGA-G9-6361-01A-21D-1961-08	42503522	48611011	142543265	14	6406											
ANKRD17	26057	broad.mit.edu	37	chr4	73968249	73968249	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgcagccaaagccagcctccGactttcttcccttaactgtt	8	11	6	16	2	1	0	0	0	1	0	3	1	3	0	5	0	4	2	5	0	2	4	rs143314189	byFrequency	TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr4:73968249G>A	ENST00000358602.4	-	25	4533	c.4417C>T	c.(4417-4419)Cgg>Tgg	p.R1473W	ANKRD17_ENST00000330838.6_Missense_Mutation_p.R1222W|ANKRD17_ENST00000509867.2_Missense_Mutation_p.R1360W	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1473					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GCCAGCCTCCGACTTTCTTCC	0.343													15	26					0	0	0.004007	0	0	A	73968249	G	A	73968249	3	1	130	1	0	0	0	0	1	0	0	0	642	1057	37	1	3434	1	ANKRD17	4	73968249	Missense_Mutation	SNP	G	TCGA-G9-6361-01A-21D-1961-08	25357238	73968249	117186027	15	6407											
ADAMTS12	81792	broad.mit.edu	37	chr5	33535013	33535013	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgtgatcacatagacattGgtcttggtcttcagttttat	8	19	8	6	0	4	2	2	1	2	1	4	2	4	2	0	2	0	1	0	2	2	7			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr5:33535013G>T	ENST00000504830.1	-	23	4866	c.4531C>A	c.(4531-4533)Caa>Aaa	p.Q1511K	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.Q1426K	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1511	TSP type-1 8.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CATAGACATTGGTCTTGGTCT	0.493										HNSCC(64;0.19)			37	65					2.05212e-20	2.88086e-20	0.005524	1	0	T	33535013	G	T	33535013	3	4	130	1	0	0	0	0	1	0	0	0	256	1357	47	4	261	4	ADAMTS12	5	33535013	Missense_Mutation	SNP	G	TCGA-G9-6361-01A-21D-1961-08		33535013	147380247	16	6408											
TINAG	27283	broad.mit.edu	37	chr6	54219401	54219401	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taaagaatcagaaaaatatcGaaagcttcagacacatgcag	20	7	7	7	1	2	3	2	0	0	3	3	4	2	3	0	0	2	2	0	0	7	3			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr6:54219401G>A	ENST00000259782.4	+	9	1313	c.1217G>A	c.(1216-1218)cGa>cAa	p.R406Q		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	406					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			GAAAAATATCGAAAGCTTCAG	0.318													5	52					0	0	0.000602	0	0	A	54219401	G	A	54219401	3	1	130	1	0	0	0	0	1	0	0	0	15981	1058	37	1	1251	1	TINAG	6	54219401	Missense_Mutation	SNP	G	TCGA-G9-6361-01A-21D-1961-08		54219401	116895666	17	6409											
RNASET2	8635	broad.mit.edu	37	chr6	167343248	167343248	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgcttagtgaggcacagtTctatctgaccaattgtctgt	8	15	9	9	0	3	2	0	2	3	0	3	2	3	2	1	1	1	3	1	1	3	5			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr6:167343248T>G	ENST00000366855.6	-	10	1160	c.485A>C	c.(484-486)gAa>gCa	p.E162A	RP11-514O12.4_ENST00000507747.1_Intron|RNASET2_ENST00000476238.2_Missense_Mutation_p.E200A|RNASET2_ENST00000508775.1_Missense_Mutation_p.E200A			O00584	RNT2_HUMAN	ribonuclease T2	200					RNA catabolic process	extracellular region	ribonuclease T2 activity|RNA binding			large_intestine(4)|lung(4)	8		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;1.53e-19)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00665)		GAGGCACAGTTCTATCTGACC	0.493													4	161					0	0	0.009096	0	0	G	167343248	T	G	167343248	3	3	130	1	0	0	0	0	1	0	0	0	13470	1783	62	5	175	5	RNASET2	6	167343248	Missense_Mutation	SNP	T	TCGA-G9-6361-01A-21D-1961-08	113123847	167343248	3771819	18	6410											
AKAP9	10142	broad.mit.edu	37	chr7	91621525	91621525	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aagcctacaaatttattaagGgtacagtatttaaaactact	17	13	5	6	0	0	0	0	0	0	0	0	0	0	0	1	1	5	2	1	1	10	9			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr7:91621525G>T	ENST00000359028.2	+	5	666	c.441_splice	c.e5+1	p.R147_splice	AKAP9_ENST00000394564.1_Splice_Site_p.R135_splice|AKAP9_ENST00000358100.2_Splice_Site_p.R147_splice|AKAP9_ENST00000356239.3_Splice_Site_p.R135_splice			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	147					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ATTTATTAAGGGTACAGTATT	0.294			T	BRAF	papillary thyroid								16	128					1.15088e-07	1.50025e-07	0.004007	1	0	T	91621525	G	T	91621525	5	4	130	1	0	0	0	0	0	0	1	0	456	1246	43	4	419	4	AKAP9	7	91621525	Splice_Site	SNP	G	TCGA-G9-6361-01A-21D-1961-08		91621525	67517138	19	6411											
LHFPL3	375612	broad.mit.edu	37	chr7	104377297	104377297	+	Frame_Shift_Del	DEL	A	A	-																															ctgatcctctcatttctagcAtttgtgcttggtaatcgaca																										TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr7:104377297delA	ENST00000535008.1	+	4	745	c.621delA	c.(619-621)gcfs	p.A207fs	LHFPL3_ENST00000543266.1_Frame_Shift_Del_p.A207fs|LHFPL3_ENST00000424859.1_Frame_Shift_Del_p.A193fs|LHFPL3_ENST00000401970.2_Frame_Shift_Del_p.A193fs			Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	193						integral to membrane				kidney(1)|large_intestine(2)|lung(6)	9						CATTTCTAGCATTTGTGCTTG	0.448													9	12	---	---	---	---						-	104377297	A	-	104377297	7	5	130	1	0	1	0	1	0	0	0	0	8806	204	8	0	627	0	LHFPL3	7	104377297	Frame_Shift_Del	DEL	A	TCGA-G9-6361-01A-21D-1961-08	12755772	104377297	54761366	20	6412											
CTTNBP2	83992	broad.mit.edu	37	chr7	117400554	117400554	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcagtggtgttattgcaaGtcacgtcttccagactccac	10	12	8	11	1	3	1	2	0	1	1	5	1	5	1	2	1	1	2	2	1	3	3			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr7:117400554G>T	ENST00000160373.3	-	10	3198	c.3107C>A	c.(3106-3108)aCt>aAt	p.T1036N		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1036										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GTTATTGCAAGTCACGTCTTC	0.453													51	78					4.10826e-27	5.88045e-27	0.00361	1	0	T	117400554	G	T	117400554	3	4	130	1	0	0	0	0	1	0	0	0	4069	1029	36	4	1940	4	CTTNBP2	7	117400554	Missense_Mutation	SNP	G	TCGA-G9-6361-01A-21D-1961-08	13023257	117400554	41738109	21	6413											
DLC1	10395	broad.mit.edu	37	chr8	13162748	13162748	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttattctaaaatagattggCgagaaaacagaaccaaaatg	19	10	7	5	1	1	3	0	0	1	3	1	4	1	3	1	1	2	0	1	1	9	6			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr8:13162748C>T	ENST00000511869.1	-	5	1788	c.1378G>A	c.(1378-1380)Gcc>Acc	p.A460T	DLC1_ENST00000276297.4_Intron|DLC1_ENST00000316609.5_Intron	NM_024767.3	NP_079043.3	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	0	SAM.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						AATAGATTGGCGAGAAAACAG	0.274													18	17					0	0	0.007413	0	0	T	13162748	C	T	13162748	3	4	130	1	0	0	0	0	1	0	0	0	4578	768	27	1	3349	1	DLC1	8	13162748	Missense_Mutation	SNP	C	TCGA-G9-6361-01A-21D-1961-08		13162748	133201274	22	6414											
FAM135B	51059	broad.mit.edu	37	chr8	139209802	139209802	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggatgtcccgcatgatcacCaggaagtggagacggagacc	11	5	15	10	2	1	3	1	1	0	2	2	7	2	5	3	4	0	1	3	4	1	0			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr8:139209802C>T	ENST00000395297.1	-	8	950	c.780G>A	c.(778-780)ctG>ctA	p.L260L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	260										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GCATGATCACCAGGAAGTGGA	0.617										HNSCC(54;0.14)			14	69					0	0	0.001855	0	0	T	139209802	C	T	139209802	2	4	130	1	0	0	0	0	0	0	0	1	5480	581	21	2		2	FAM135B	8	139209802	Silent	SNP	C	TCGA-G9-6361-01A-21D-1961-08	126047054	139209802	7154220	23	6415											
B4GALT1	2683	broad.mit.edu	37	chr9	33135276	33135276	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtacttgaggtgctcctgccGgttgcggaatggaatgatga	8	11	15	7	2	0	3	0	3	0	0	1	5	1	5	2	4	4	3	2	4	3	3			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr9:33135276G>A	ENST00000379731.4	-	2	745	c.559C>T	c.(559-561)Cgg>Tgg	p.R187W	B4GALT1_ENST00000535206.1_Missense_Mutation_p.R187W	NM_001497.3	NP_001488.2	P15291	B4GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1	187					oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	basolateral plasma membrane|brush border membrane|desmosome|external side of plasma membrane|extracellular region|glycocalyx|Golgi cisterna membrane|Golgi trans cisterna|integral to membrane	alpha-tubulin binding|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|beta-tubulin binding|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity|protein binding|protein homodimerization activity			endometrium(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)	14			LUSC - Lung squamous cell carcinoma(29;0.0084)	GBM - Glioblastoma multiforme(74;0.121)	N-Acetyl-D-glucosamine(DB00141)	TGCTCCTGCCGGTTGCGGAAT	0.562													19	63					0	0	0.007413	0	0	A	33135276	G	A	33135276	3	1	130	1	0	0	0	0	1	0	0	0	1268	1115	39	1	657	1	B4GALT1	9	33135276	Missense_Mutation	SNP	G	TCGA-G9-6361-01A-21D-1961-08		33135276	108078155	24	6416											
ARHGAP21	57584	broad.mit.edu	37	chr10	24874123	24874123	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctggaaagagtatcacattCgatgagtttatgggaactga	13	11	11	6	1	1	3	1	2	0	1	2	6	1	5	1	2	1	2	1	2	4	4			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr10:24874123C>T	ENST00000396432.2	-	26	5581	c.5095G>A	c.(5095-5097)Gaa>Aaa	p.E1699K		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1698	Interaction with CTNNA1.				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GTATCACATTCGATGAGTTTA	0.408													5	84					0	0	0.000602	0	0	T	24874123	C	T	24874123	3	4	130	1	0	0	0	0	1	0	0	0	868	893	31	1	785	1	ARHGAP21	10	24874123	Missense_Mutation	SNP	C	TCGA-G9-6361-01A-21D-1961-08		24874123	110660624	25	6417											
HRAS	3265	broad.mit.edu	37	chr11	533476	533476	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgggtcttggccgaggtctCgatgtaggggatgccgtagc	5	9	17	10	4	2	0	0	0	2	0	3	3	2	1	3	5	2	2	3	5	2	3			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr11:533476C>T	ENST00000417302.1	-	4	614	c.427G>A	c.(427-429)Gag>Aag	p.E143K	HRAS_ENST00000451590.1_Missense_Mutation_p.E143K|HRAS_ENST00000397594.1_Missense_Mutation_p.E143K|HRAS_ENST00000397596.2_Missense_Mutation_p.E143K|HRAS_ENST00000311189.7_Missense_Mutation_p.E143K	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	143					activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding			adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	GCCGAGGTCTCGATGTAGGGG	0.677		6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)			24	127					0	0	0.003954	0	0	T	533476	C	T	533476	3	4	130	1	0	0	0	0	1	0	0	0	7389	893	31	1	217	1	HRAS	11	533476	Missense_Mutation	SNP	C	TCGA-G9-6361-01A-21D-1961-08		533476	134473040	26	6418											
SYT12	91683	broad.mit.edu	37	chr11	66812168	66812168	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagaacctcatctggaccaaCgacaagaccacagcgggtaa	16	4	9	12	2	2	2	1	0	1	2	2	4	2	3	3	2	3	1	3	2	5	1			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr11:66812168C>T	ENST00000393946.2	+	9	2104	c.942C>T	c.(940-942)aaC>aaT	p.N314N	SYT12_ENST00000525457.1_Silent_p.N314N|SYT12_ENST00000527043.1_Silent_p.N314N			Q8IV01	SYT12_HUMAN	synaptotagmin XII	314	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						TCTGGACCAACGACAAGACCA	0.657													26	67					0	0	0.004656	0	0	T	66812168	C	T	66812168	2	4	130	1	0	0	0	0	0	0	0	1	15525	535	19	1		1	SYT12	11	66812168	Silent	SNP	C	TCGA-G9-6361-01A-21D-1961-08	66278692	66812168	68194348	27	6419											
TRIM29	23650	broad.mit.edu	37	chr11	120008221	120008221	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgttgccgatgcaggagtcGcacagcacctcctcggagcc	7	8	12	14	3	0	0	0	0	0	0	3	3	1	2	4	2	4	4	4	2	0	2			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr11:120008221G>A	ENST00000341846.5	-	1	940	c.519C>T	c.(517-519)tgC>tgT	p.C173C		NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	173					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		TGCAGGAGTCGCACAGCACCT	0.662													11	59					0	0	0.008291	0	0	A	120008221	G	A	120008221	2	1	130	1	0	0	0	0	0	0	0	1	16564	1079	38	1		1	TRIM29	11	120008221	Silent	SNP	G	TCGA-G9-6361-01A-21D-1961-08	53196053	120008221	14998295	28	6420											
SCN8A	6334	broad.mit.edu	37	chr12	52200655	52200655	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tatgagatctgggagaagttCgaccccgatgccacccagtt	10	9	11	11	2	1	2	0	1	1	2	2	6	1	2	4	1	1	2	4	1	2	3			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr12:52200655C>T	ENST00000354534.5	+	27	5563	c.5385C>T	c.(5383-5385)ttC>ttT	p.F1795F	SCN8A_ENST00000545061.1_Silent_p.F1754F	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1795					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	GGGAGAAGTTCGACCCCGATG	0.517													56	69					0	0	0.00361	0	0	T	52200655	C	T	52200655	2	4	130	1	0	0	0	0	0	0	0	1	13978	883	31	1		1	SCN8A	12	52200655	Silent	SNP	C	TCGA-G9-6361-01A-21D-1961-08		52200655	81651240	29	6421											
MAP3K12	7786	broad.mit.edu	37	chr12	53878999	53878999	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atagcaccacgccaaaggacCtagggatgaggggacatcac	14	4	12	11	1	1	1	1	1	0	0	1	4	1	4	3	4	1	1	3	4	3	2			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr12:53878999C>G	ENST00000267079.2	-	7	1107		c.e7-1		MAP3K12_ENST00000547488.1_Splice_Site|MAP3K12_ENST00000547035.1_Splice_Site	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12						histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						GCCAAAGGACCTAGGGATGAG	0.542													23	50					0	0	0.00278	0	0	G	53878999	C	G	53878999	5	3	130	1	0	0	0	0	0	0	1	0	9296	695	24	4	1734	4	MAP3K12	12	53878999	Splice_Site	SNP	C	TCGA-G9-6361-01A-21D-1961-08	1678344	53878999	79972896	30	6422											
SHMT2	6472	broad.mit.edu	37	chr12	57626237	57626237	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtttgtgtgtctgtccagcCcaaaactggcctcattgact	7	14	9	11	0	2	1	1	1	1	0	3	1	3	1	3	1	2	1	3	1	2	2			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr12:57626237C>T	ENST00000393827.4	+	5	564	c.308C>T	c.(307-309)cCc>cTc	p.P103L	SHMT2_ENST00000449049.3_Splice_Site_p.P178_splice|SHMT2_ENST00000554600.1_3'UTR|SHMT2_ENST00000414700.3_Splice_Site_p.P178_splice|SHMT2_ENST00000557487.1_Intron|SHMT2_ENST00000328923.3_Splice_Site_p.P199_splice|SHMT2_ENST00000553474.1_Splice_Site_p.P178_splice			P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)	199						microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	TCTGTCCAGCCCAAAACTGGC	0.587													43	105					0	0	0.00874	0	0	T	57626237	C	T	57626237	3	4	130	1	0	0	0	0	1	0	0	0	14341	637	22	2	618	2	SHMT2	12	57626237	Missense_Mutation	SNP	C	TCGA-G9-6361-01A-21D-1961-08	3747238	57626237	76225658	31	6423											
CLYBL	171425	broad.mit.edu	37	chr13	100518573	100518573	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atagcgaaagcctttggtctCcaagccatagatctggtgta	11	11	10	9	1	2	1	0	0	2	1	3	2	2	1	3	2	3	1	3	2	5	4			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr13:100518573C>A	ENST00000376355.3	+	5	643	c.612C>A	c.(610-612)ctC>ctA	p.L204L	CLYBL_ENST00000376360.1_Silent_p.L238L|CLYBL_ENST00000376354.1_Silent_p.L204L|CLYBL_ENST00000339105.4_Silent_p.L238L|CLYBL_ENST00000444838.2_Silent_p.L204L	NM_206808.2	NP_996531.1	Q8N0X4	CLYBL_HUMAN	citrate lyase beta like	238					cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding			NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CCTTTGGTCTCCAAGCCATAG	0.478													28	62					2.61193e-14	3.59757e-14	0.009535	1	0	A	100518573	C	A	100518573	2	1	130	1	0	0	0	0	0	0	0	1	3596	842	30	4		4	CLYBL	13	100518573	Silent	SNP	C	TCGA-G9-6361-01A-21D-1961-08		100518573	14651305	32	6424											
LOXL1	4016	broad.mit.edu	37	chr15	74219535	74219535	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggccgtcggggacagcacGggcatggcccgggcccgcac	5	3	18	15	5	0	0	0	0	0	0	1	1	0	1	3	6	1	3	3	6	0	0			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr15:74219535G>C	ENST00000261921.7	+	1	737	c.411G>C	c.(409-411)acG>acC	p.T137T	LOXL1-AS1_ENST00000566675.1_RNA|LOXL1-AS1_ENST00000565756.1_RNA|LOXL1-AS1_ENST00000562965.1_RNA|LOXL1-AS1_ENST00000565416.1_RNA|LOXL1-AS1_ENST00000564963.1_RNA|LOXL1-AS1_ENST00000568087.1_RNA|LOXL1-AS1_ENST00000564194.1_RNA|LOXL1-AS1_ENST00000567257.1_RNA|LOXL1-AS1_ENST00000562739.1_RNA	NM_005576.2	NP_005567.2	Q08397	LOXL1_HUMAN	lysyl oxidase-like 1	137					protein deamination	extracellular space	copper ion binding	p.T137T(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						GGGACAGCACGGGCATGGCCC	0.751													3	56					0	0	0.004672	0	0	C	74219535	G	C	74219535	2	2	130	1	0	0	0	0	0	0	0	1	8944	1103	39	4		4	LOXL1	15	74219535	Silent	SNP	G	TCGA-G9-6361-01A-21D-1961-08		74219535	28311857	33	6425											
CDK5RAP3	80279	broad.mit.edu	37	chr17	46048774	46048774	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccagaccagcaagctgctcgGtaggagggggcgccaccgcg	8	3	16	14	4	0	1	0	0	0	1	1	2	0	2	4	4	3	4	4	4	2	1			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr17:46048774G>T	ENST00000536708.2	+	2	236		c.e2+1		CDK5RAP3_ENST00000338399.4_Splice_Site|RP11-6N17.9_ENST00000582262.1_RNA	NM_001278197.1	NP_001265126.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3						brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						AAGCTGCTCGGTAGGAGGGGG	0.672													8	17					1.12685e-05	1.44316e-05	0.004482	1	0	T	46048774	G	T	46048774	5	4	130	1	0	0	0	0	0	0	1	0	3169	1275	44	4	59	4	CDK5RAP3	17	46048774	Splice_Site	SNP	G	TCGA-G9-6361-01A-21D-1961-08		46048774	35146436	34	6426											
OTOP3	347741	broad.mit.edu	37	chr17	72937760	72937760	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatcttcaacaaggtggccGtcactctgggtgacgtgtgg	7	11	14	9	2	4	2	2	2	2	0	4	2	4	2	1	4	1	0	1	4	2	1			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr17:72937760G>A	ENST00000328801.4	+	2	346	c.346G>A	c.(346-348)Gtc>Atc	p.V116I		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	116						integral to membrane|intracellular	zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					CAAGGTGGCCGTCACTCTGGG	0.607													11	83					0	0	0.001855	0	0	A	72937760	G	A	72937760	3	1	130	1	0	0	0	0	1	0	0	0	11354	1145	40	1	352	1	OTOP3	17	72937760	Missense_Mutation	SNP	G	TCGA-G9-6361-01A-21D-1961-08	26888986	72937760	8257450	35	6427											
C3	718	broad.mit.edu	37	chr19	6707522	6707522	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcacggaacggcgtcggcGggcggctggctgcgggcact	4	5	19	13	7	0	0	0	0	0	0	1	1	0	1	0	7	3	4	0	7	1	0			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr19:6707522G>A	ENST00000245907.6	-	16	2094	c.2002C>T	c.(2002-2004)Cgc>Tgc	p.R668C		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	668					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CGGCGTCGGCGGGCGGCTGGC	0.652													7	114					0	0	0.001984	0	0	A	6707522	G	A	6707522	3	1	130	1	0	0	0	0	1	0	0	0	2218	1116	39	1	3093	1	C3	19	6707522	Missense_Mutation	SNP	G	TCGA-G9-6361-01A-21D-1961-08		6707522	52421461	36	6428											
QTRT1	81890	broad.mit.edu	37	chr19	10812880	10812880	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccgctccccctacgacggcaAtgagaccctgctgagcccgg	7	5	11	18	4	0	2	0	2	0	1	1	4	1	2	5	2	3	3	5	2	2	1			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr19:10812880A>G	ENST00000250237.5	+	3	411	c.401A>G	c.(400-402)aAt>aGt	p.N134S	QTRT1_ENST00000585885.1_3'UTR	NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	134					queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity			large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			TACGACGGCAATGAGACCCTG	0.637													25	58					0	0	0.007291	0	0	G	10812880	A	G	10812880	3	3	130	1	0	0	0	0	1	0	0	0	12937	101	4	3	411	3	QTRT1	19	10812880	Missense_Mutation	SNP	A	TCGA-G9-6361-01A-21D-1961-08	4105358	10812880	48316103	37	6429											
SIPA1L3	23094	broad.mit.edu	37	chr19	38643547	38643547	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccacgatgggacgtccagcGgcgactcctcttccggcggc	5	6	14	16	6	1	0	0	0	1	0	4	3	4	1	4	4	1	0	4	4	0	1			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr19:38643547G>A	ENST00000222345.6	+	13	4110	c.3601G>A	c.(3601-3603)Ggc>Agc	p.G1201S		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1201					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GACGTCCAGCGGCGACTCCTC	0.662													6	119					0	0	0.00308	0	0	A	38643547	G	A	38643547	3	1	130	1	0	0	0	0	1	0	0	0	14386	1116	39	1	3643	1	SIPA1L3	19	38643547	Missense_Mutation	SNP	G	TCGA-G9-6361-01A-21D-1961-08	27830667	38643547	20485436	38	6430											
SYT5	6861	broad.mit.edu	37	chr19	55687185	55687185	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagacccgcacataggggtcCgaggagccaccaagatccaa	13	4	11	13	2	0	2	0	0	0	2	2	4	2	3	5	3	1	1	5	3	4	2			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr19:55687185C>T	ENST00000354308.3	-	5	801	c.432G>A	c.(430-432)tcG>tcA	p.S144S	SYT5_ENST00000590851.1_Silent_p.S141S|CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000537500.1_Silent_p.S144S	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	144	C2 1.				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CATAGGGGTCCGAGGAGCCAC	0.622													40	68					0	0	0.007835	0	0	T	55687185	C	T	55687185	2	4	130	1	0	0	0	0	0	0	0	1	15534	639	23	1		1	SYT5	19	55687185	Silent	SNP	C	TCGA-G9-6361-01A-21D-1961-08	17043638	55687185	3441798	39	6431											
KRTAP11-1	0	broad.mit.edu	37	chr21	32253539	32253539	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagagacaaaggtgagcggcCggctgtaggtagttgagcag	11	7	17	6	2	0	3	0	2	0	1	0	4	0	3	1	4	2	5	1	4	4	4			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chr21:32253539C>T	ENST00000332378.4	-	1	335	c.305G>A	c.(304-306)cGg>cAg	p.R102Q		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	102						keratin filament	structural molecule activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						GGTGAGCGGCCGGCTGTAGGT	0.562													36	51					0	0	0.003271	0	0	T	32253539	C	T	32253539	3	4	130	1	0	0	0	0	1	0	0	0	8560	652	23	1	190	1	KRTAP11-1	21	32253539	Missense_Mutation	SNP	C	TCGA-G9-6361-01A-21D-1961-08		32253539	15876356	40	6432											
NHS	4810	broad.mit.edu	37	chrX	17705984	17705984	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaggagctgcaccgccacGcccggcagagcctgcaagcc	8	3	14	16	3	0	1	0	0	0	1	0	3	0	3	5	3	5	4	5	3	1	0	rs78153843	byFrequency	TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chrX:17705984G>A	ENST00000380060.3	+	2	1026	c.688G>A	c.(688-690)Gcc>Acc	p.A230T	NHS_ENST00000398097.3_Missense_Mutation_p.A53T	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	230						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					GCACCGCCACGCCCGGCAGAG	0.647													8	28					0	0	0.006214	0	0	A	17705984	G	A	17705984	3	1	130	1	0	0	0	0	1	0	0	0	10458	1087	38	1	732	1	NHS	23	17705984	Missense_Mutation	SNP	G	TCGA-G9-6361-01A-21D-1961-08		17705984	137564576	41	6433											
LUZP4	51213	broad.mit.edu	37	chrX	114541233	114541233	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagagagatctcatagccaCtcagagagatctcatagtca	14	9	8	10	0	5	4	5	0	2	4	7	6	5	4	1	0	1	0	1	0	2	2			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chrX:114541233C>T	ENST00000371920.3	+	4	813	c.806C>T	c.(805-807)aCt>aTt	p.T269I	LUZP4_ENST00000451986.2_Missense_Mutation_p.T187I	NM_016383.3	NP_057467.1	Q9P127	LUZP4_HUMAN	leucine zipper protein 4	269						nucleus				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						CTCATAGCCACTCAGAGAGAT	0.468													49	21					0	0	0.00361	0	0	T	114541233	C	T	114541233	3	4	130	1	0	0	0	0	1	0	0	0	9133	565	20	2	820	2	LUZP4	23	114541233	Missense_Mutation	SNP	C	TCGA-G9-6361-01A-21D-1961-08	96835249	114541233	40729327	42	6434											
GABRA3	2556	broad.mit.edu	37	chrX	151514068	151514068	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgacctccaagcccaggtcGcagccggttgtcatagccgt	7	8	11	15	3	1	1	1	1	0	0	3	1	2	1	5	2	3	2	5	2	2	2			TCGA-G9-6361-01A-21D-1961-08	TCGA-G9-6361-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae721ffe-45da-4029-bcbd-6e218f607de2	1977a26b-0d18-495c-8a57-ac73a2953e90	g.chrX:151514068G>A	ENST00000370314.4	-	3	485	c.247C>T	c.(247-249)Cga>Tga	p.R83*	GABRA3_ENST00000370311.1_Nonsense_Mutation_p.R83*|GABRA3_ENST00000535043.1_Nonsense_Mutation_p.R83*	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	83					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AGCCCAGGTCGCAGCCGGTTG	0.453													4	55					0	0	0.009096	0	0	A	151514068	G	A	151514068	4	1	130	1	0	0	0	0	0	1	0	0	6197	1095	38	1	1263	1	GABRA3	23	151514068	Nonsense_Mutation	SNP	G	TCGA-G9-6361-01A-21D-1961-08	36972835	151514068	3756492	43	6435											
DVL1	1855	broad.mit.edu	37	chr1	1271546	1271546	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgatgtccacgaagaactcGcaggggttccccatagcctt	10	9	10	12	2	0	2	0	1	0	1	3	3	2	2	4	2	2	2	4	2	3	3			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr1:1271546G>A	ENST00000378888.5	-	15	2348	c.2064C>T	c.(2062-2064)tgC>tgT	p.C688C	DVL1_ENST00000378891.5_Silent_p.C663C			O14640	DVL1_HUMAN	dishevelled segment polarity protein 1	688					canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity	p.C663C(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CGAAGAACTCGCAGGGGTTCC	0.692													3	11					0	0	0.014758	0	0	A	1271546	G	A	1271546	2	1	131	1	0	0	0	0	0	0	0	1	4861	1079	38	1		1	DVL1	1	1271546	Silent	SNP	G	TCGA-G9-6362-01A-11D-1786-08		1271546	247979075	1	6436											
ZMYM1	79830	broad.mit.edu	37	chr1	35579021	35579021	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaattttggagagaataccaAttttgtgatggagctgtcag	12	13	12	4	0	1	2	1	1	0	1	1	6	1	4	1	2	2	1	1	2	4	5			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr1:35579021A>G	ENST00000373330.1	+	11	1764	c.1590A>G	c.(1588-1590)caA>caG	p.Q530Q	ZMYM1_ENST00000359858.4_Silent_p.Q530Q|ZMYM1_ENST00000373329.1_3'UTR			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	530						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding	p.Q530Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GAGAATACCAATTTTGTGATG	0.318													16	181					0	0	0.043863	0	0	G	35579021	A	G	35579021	2	3	131	1	0	0	0	0	0	0	0	1	17757	98	4	3		3	ZMYM1	1	35579021	Silent	SNP	A	TCGA-G9-6362-01A-11D-1786-08	34307475	35579021	213671600	2	6437											
SYCP1	6847	broad.mit.edu	37	chr1	115454198	115454198	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctaaaaactgagcttgaaaaCgagaagtatgttttccattt	15	13	7	6	1	0	3	0	2	0	1	1	4	1	3	1	0	3	3	1	0	7	6	rs148948913	byFrequency	TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr1:115454198C>T	ENST00000369522.3	+	18	1764	c.1524C>T	c.(1522-1524)aaC>aaT	p.N508N	SYCP1_ENST00000369518.1_Silent_p.N508N	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	508				IQLTAITTSEQYYSKEVKDLKTELENEK -> YSYCHYHKW TVLPKRGQRPKLSSKRE (in Ref. 2; BAA22586).	cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	p.N508N(1)	RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGCTTGAAAACGAGAAGTATG	0.249													19	20					0	0	0.043863	0	0	T	115454198	C	T	115454198	2	4	131	1	0	0	0	0	0	0	0	1	15488	535	19	1		1	SYCP1	1	115454198	Silent	SNP	C	TCGA-G9-6362-01A-11D-1786-08	79875177	115454198	133796423	3	6438											
TXNIP	10628	broad.mit.edu	37	chr1	145439910	145439910	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtggatctggtggatgtcaaTacccctgatttaatggtgag	9	13	13	6	0	2	2	1	2	1	0	2	4	2	4	2	4	1	0	2	4	3	3			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr1:145439910T>C	ENST00000369317.4	+	3	790	c.456T>C	c.(454-456)aaT>aaC	p.N152N	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	152					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding	p.N152N(1)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGGATGTCAATACCCCTGATT	0.433													32	128					0	0	0.045705	0	0	C	145439910	T	C	145439910	2	2	131	1	0	0	0	0	0	0	0	1	16865	1403	49	3		3	TXNIP	1	145439910	Silent	SNP	T	TCGA-G9-6362-01A-11D-1786-08	29985712	145439910	103810711	4	6439											
LELP1	149018	broad.mit.edu	37	chr1	153177307	153177307	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtttaaagaagctgctgcaaCgctgtttcgaaaagtgccca	12	10	10	9	2	0	1	0	0	0	1	1	2	0	1	1	0	5	6	1	0	6	3			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr1:153177307C>T	ENST00000368747.1	+	2	234	c.124C>T	c.(124-126)Cgc>Tgc	p.R42C		NM_001010857.1	NP_001010857.1	Q5T871	LELP1_HUMAN	late cornified envelope-like proline-rich 1	42	Cys/Pro-rich.							p.R42C(2)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1)	19	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCTGCTGCAACGCTGTTTCGA	0.552													13	178					0	0	0.105934	0	0	T	153177307	C	T	153177307	3	4	131	1	0	0	0	0	1	0	0	0	8757	536	19	1	126	1	LELP1	1	153177307	Missense_Mutation	SNP	C	TCGA-G9-6362-01A-11D-1786-08	7737397	153177307	96073314	5	6440											
OR10K2	391107	broad.mit.edu	37	chr1	158390384	158390384	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcacagcccaggaaagaaatGgtcttcttctgggacagcag	12	7	12	10	0	3	1	0	0	3	1	3	3	3	3	1	3	2	2	1	3	2	2			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr1:158390384G>T	ENST00000314902.2	-	1	272	c.273C>A	c.(271-273)acC>acA	p.T91T		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T91T(1)		NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					GGAAAGAAATGGTCTTCTTCT	0.478													17	262					9.16793e-09	1.02465e-08	0.0333	1	0	T	158390384	G	T	158390384	2	4	131	1	0	0	0	0	0	0	0	1	10962	1335	47	4		4	OR10K2	1	158390384	Silent	SNP	G	TCGA-G9-6362-01A-11D-1786-08	5213077	158390384	90860237	6	6441											
PRG4	10216	broad.mit.edu	37	chr1	186276640	186276640	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaacctgcacccaccaccAccaagaagcctgcacccacc	13	2	6	20	0	0	1	0	0	0	1	0	2	0	2	8	1	4	2	8	1	3	0			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr1:186276640A>C	ENST00000445192.2	+	7	1834	c.1789A>C	c.(1789-1791)Acc>Ccc	p.T597P	PRG4_ENST00000367483.4_Missense_Mutation_p.T556P|PRG4_ENST00000367485.4_Missense_Mutation_p.T504P|PRG4_ENST00000367486.3_Missense_Mutation_p.T554P|PRG4_ENST00000367484.3_Intron	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	597	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	p.T597P(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACCCACCACCACCAAGAAGCC	0.652													6	69					0	0	0.047766	0	0	C	186276640	A	C	186276640	3	2	131	1	0	0	0	0	1	0	0	0	12533	159	6	5	1811	5	PRG4	1	186276640	Missense_Mutation	SNP	A	TCGA-G9-6362-01A-11D-1786-08	27886256	186276640	62973981	7	6442											
TTN	7273	broad.mit.edu	37	chr2	179412022	179412022	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctcaggtctggtaggagcGcttggtgggactaaatataa	11	10	13	7	1	2	0	1	0	1	0	2	2	2	2	1	5	1	2	1	5	5	5			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr2:179412022G>A	ENST00000589042.1	-	340	94454	c.94230C>T	c.(94228-94230)agC>agT	p.S31410S	TTN_ENST00000342175.6_Silent_p.S22537S|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.S22470S|TTN_ENST00000460472.2_Silent_p.S22345S|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.S29769S|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.S28842S|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29769	Fibronectin type-III 129.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S22345S(2)|p.S22470S(1)|p.S28840S(1)|p.S22537S(1)|p.S28842S(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGTAGGAGCGCTTGGTGGGA	0.378													17	111					0	0	0.028581	0	0	A	179412022	G	A	179412022	2	1	131	1	0	0	0	0	0	0	0	1	16797	1078	38	1		1	TTN	2	179412022	Silent	SNP	G	TCGA-G9-6362-01A-11D-1786-08		179412022	63787351	8	6443											
TTN	7273	broad.mit.edu	37	chr2	179435374	179435374	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gactggtggcaaagtcggtgCtctttatttctaatcgagct	8	14	11	8	2	2	0	0	0	2	0	4	2	2	0	0	3	2	3	0	3	3	4			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr2:179435374C>G	ENST00000589042.1	-	326	75709	c.75485G>C	c.(75484-75486)aGc>aCc	p.S25162T	TTN_ENST00000342175.6_Missense_Mutation_p.S16289T|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S16222T|TTN_ENST00000460472.2_Missense_Mutation_p.S16097T|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S23521T|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S22594T|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23521	Fibronectin type-III 83.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S16097T(2)|p.S22594T(1)|p.S16222T(1)|p.S16289T(1)|p.S22592T(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAAGTCGGTGCTCTTTATTTC	0.408													36	71					0	0	0.064281	0	0	G	179435374	C	G	179435374	3	3	131	1	0	0	0	0	1	0	0	0	16797	797	28	4	32642	4	TTN	2	179435374	Missense_Mutation	SNP	C	TCGA-G9-6362-01A-11D-1786-08	23352	179435374	63763999	9	6444											
P4HTM	54681	broad.mit.edu	37	chr3	49028271	49028271	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcgccttttccttaggtgggGcacgagcgtaaggtccagct	6	10	14	11	3	0	0	0	0	0	0	2	1	2	0	3	4	2	3	3	4	2	4			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr3:49028271G>A	ENST00000343546.4	+	2	728	c.360G>A	c.(358-360)ggG>ggA	p.G120G	P4HTM_ENST00000383729.4_Silent_p.G120G|P4HTM_ENST00000468374.1_3'UTR	NM_177938.2	NP_808807.2	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	120						endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.G120G(2)		NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	CTTAGGTGGGGCACGAGCGTA	0.662													3	26					0	0	0.004672	0	0	A	49028271	G	A	49028271	2	1	131	1	0	0	0	0	0	0	0	1	11407	1190	42	2		2	P4HTM	3	49028271	Silent	SNP	G	TCGA-G9-6362-01A-11D-1786-08		49028271	148994159	10	6445											
GPR128	84873	broad.mit.edu	37	chr3	100373726	100373726	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggttttggtcaatctgtgcaTatcaatgttgattttcaacc	9	17	8	7	0	4	1	3	1	1	0	4	1	4	1	1	2	2	3	1	2	4	6			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr3:100373726T>C	ENST00000273352.3	+	12	1695	c.1427T>C	c.(1426-1428)aTa>aCa	p.I476T	GPR128_ENST00000475887.1_Missense_Mutation_p.I181T|GPR128_ENST00000481506.1_3'UTR	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	476					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.I476T(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						AATCTGTGCATATCAATGTTG	0.323													3	57					0	0	0.004672	0	0	C	100373726	T	C	100373726	3	2	131	1	0	0	0	0	1	0	0	0	6681	1406	49	3	1473	3	GPR128	3	100373726	Missense_Mutation	SNP	T	TCGA-G9-6362-01A-11D-1786-08	51345455	100373726	97648704	11	6446											
CCDC54	84692	broad.mit.edu	37	chr3	107096617	107096617	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagatgatgatagttatgaCggaaaaatgaatcttccagt	16	11	9	5	1	1	5	0	4	1	1	2	6	2	6	1	1	0	1	1	1	6	3	rs144553244		TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr3:107096617C>T	ENST00000261058.1	+	1	430	c.183C>T	c.(181-183)gaC>gaT	p.D61D		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	61								p.D61D(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						ATAGTTATGACGGAAAAATGA	0.363													8	89					0	0	0.038147	0	0	T	107096617	C	T	107096617	2	4	131	1	0	0	0	0	0	0	0	1	2844	535	19	1		1	CCDC54	3	107096617	Silent	SNP	C	TCGA-G9-6362-01A-11D-1786-08	6722891	107096617	90925813	12	6447											
FAM193A	8603	broad.mit.edu	37	chr4	2648484	2648484	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagaggtaccagcgttcCgaggaggagctgcgcagagt	9	6	16	10	3	0	2	0	0	0	2	1	5	1	4	2	3	5	5	2	3	1	2			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr4:2648484C>T	ENST00000324666.5	+	5	714	c.363C>T	c.(361-363)tcC>tcT	p.S121S	FAM193A_ENST00000545951.1_Silent_p.S121S|FAM193A_ENST00000505311.1_Silent_p.S121S|FAM193A_ENST00000502458.1_Silent_p.S121S|FAM193A_ENST00000382839.3_Silent_p.S121S	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	121								p.S121S(1)		NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						ACCAGCGTTCCGAGGAGGAGC	0.597													10	142					0	0	0.058154	0	0	T	2648484	C	T	2648484	2	4	131	1	0	0	0	0	0	0	0	1	5556	639	23	1		1	FAM193A	4	2648484	Silent	SNP	C	TCGA-G9-6362-01A-11D-1786-08		2648484	188505792	13	6448											
SFRP2	6423	broad.mit.edu	37	chr4	154709740	154709740	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggtggcactgcttcatgAccagcgggatccaagcgccg	7	6	14	14	4	1	1	1	1	0	0	2	2	2	2	4	3	3	2	4	3	1	1			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr4:154709740A>G	ENST00000274063.4	-	1	532	c.248T>C	c.(247-249)gTc>gCc	p.V83A		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2	83	FZ.				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding	p.V83A(2)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				CTGCTTCATGACCAGCGGGAT	0.627													20	127					0	0	0.062417	0	0	G	154709740	A	G	154709740	3	3	131	1	0	0	0	0	1	0	0	0	14216	275	10	3	651	3	SFRP2	4	154709740	Missense_Mutation	SNP	A	TCGA-G9-6362-01A-11D-1786-08	152061256	154709740	36444536	14	6449											
ZNF622	90441	broad.mit.edu	37	chr5	16465318	16465318	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacgacattcctggcctcctTtgcaggcgctgggggcgcct	4	9	13	15	3	0	0	0	0	0	0	2	1	2	0	4	4	1	2	4	4	0	2			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr5:16465318T>A	ENST00000308683.2	-	1	583	c.457A>T	c.(457-459)Aag>Tag	p.K153*		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	153						cytoplasm|nucleus	nucleic acid binding|zinc ion binding	p.K153*(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						CTGGCCTCCTTTGCAGGCGCT	0.642													13	113					0	0	0.024245	0	0	A	16465318	T	A	16465318	4	1	131	1	0	0	0	0	0	1	0	0	18103	1850	64	5	1000	5	ZNF622	5	16465318	Nonsense_Mutation	SNP	T	TCGA-G9-6362-01A-11D-1786-08		16465318	164449942	15	6450											
PRDM9	56979	broad.mit.edu	37	chr5	23526359	23526359	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaaccaaagccagagatcCatccatgtccctcatgctgt	12	8	7	14	0	1	2	1	0	0	2	4	3	4	2	5	0	3	1	5	0	2	0			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr5:23526359C>T	ENST00000296682.3	+	11	1344	c.1162C>T	c.(1162-1164)Cat>Tat	p.H388Y		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	388					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.H388Y(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GCCAGAGATCCATCCATGTCC	0.438										HNSCC(3;0.000094)			53	92					0	0	0.048971	0	0	T	23526359	C	T	23526359	3	4	131	1	0	0	0	0	1	0	0	0	12515	594	21	2	1200	2	PRDM9	5	23526359	Missense_Mutation	SNP	C	TCGA-G9-6362-01A-11D-1786-08	7061041	23526359	157388901	16	6451											
NIPBL	25836	broad.mit.edu	37	chr5	37038824	37038824	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatgactatgcaaccataccTtaccactaaatgtagtgtaa	16	11	5	9	0	0	1	0	1	0	0	0	1	0	1	3	0	4	3	3	0	9	6			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr5:37038824T>A	ENST00000282516.8	+	34	6591	c.6092T>A	c.(6091-6093)cTt>cAt	p.L2031H	NIPBL_ENST00000448238.2_Missense_Mutation_p.L2031H	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2031					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	p.L2031H(2)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CAACCATACCTTACCACTAAA	0.348													5	51					0	0	0.014758	0	0	A	37038824	T	A	37038824	3	1	131	1	0	0	0	0	1	0	0	0	10475	1609	56	5	6222	5	NIPBL	5	37038824	Missense_Mutation	SNP	T	TCGA-G9-6362-01A-11D-1786-08	13512465	37038824	143876436	17	6452											
HTR1A	3350	broad.mit.edu	37	chr5	63256567	63256567	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcgcttcgcctcggcgttgCgctcatttttcctctcgaaa	4	14	9	14	6	2	0	1	0	1	0	6	1	3	0	2	1	2	3	2	1	1	4			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr5:63256567C>T	ENST00000323865.3	-	1	1213	c.980G>A	c.(979-981)cGc>cAc	p.R327H	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	327					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	p.R327H(1)		cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	CTCGGCGTTGCGCTCATTTTT	0.622													9	82					0	0	0.047766	0	0	T	63256567	C	T	63256567	3	4	131	1	0	0	0	0	1	0	0	0	7480	768	27	1	291	1	HTR1A	5	63256567	Missense_Mutation	SNP	C	TCGA-G9-6362-01A-11D-1786-08	26217743	63256567	117658693	18	6453											
BHMT	635	broad.mit.edu	37	chr5	78415119	78415119	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagttcctcagagctggctcAaacgtcatgcagaccttcac	10	9	9	13	1	4	2	4	0	0	2	5	3	5	2	2	1	3	4	2	1	1	2			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr5:78415119A>T	ENST00000274353.5	+	3	311	c.204A>T	c.(202-204)tcA>tcT	p.S68S	BHMT_ENST00000524080.1_Intron|DMGDH_ENST00000520388.1_Intron	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN	betaine--homocysteine S-methyltransferase	68	Hcy-binding.				protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding	p.S68S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	GAGCTGGCTCAAACGTCATGC	0.448													33	41					0	0	0.069456	0	0	T	78415119	A	T	78415119	2	4	131	1	0	0	0	0	0	0	0	1	1424	117	5	5		5	BHMT	5	78415119	Silent	SNP	A	TCGA-G9-6362-01A-11D-1786-08	15158552	78415119	102500141	19	6454											
ATG10	83734	broad.mit.edu	37	chr5	81354375	81354375	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taagaatgggtctgtgatgtCacatctaggagcatctaccc	11	11	10	9	0	4	2	1	1	3	1	4	3	4	3	1	2	2	1	1	2	4	3			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr5:81354375C>G	ENST00000282185.3	+	3	464	c.170C>G	c.(169-171)tCa>tGa	p.S57*	ATG10_ENST00000513443.1_Nonsense_Mutation_p.S57*|ATG10_ENST00000513634.1_Nonsense_Mutation_p.S57*|ATG10_ENST00000458350.3_Nonsense_Mutation_p.S57*|ATG10_ENST00000355178.4_Nonsense_Mutation_p.S57*	NM_031482.4	NP_113670.1	Q9H0Y0	ATG10_HUMAN	autophagy related 10	57					autophagy in response to ER overload|positive regulation of protein modification process|protein lipidation|protein modification by small protein conjugation|protein transport	cytoplasm	Atg12 ligase activity|protein binding	p.S57*(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(2)	9		Lung NSC(167;0.0258)|all_lung(232;0.0294)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;9.94e-41)|Epithelial(54;6.3e-36)|all cancers(79;2.31e-30)		TCTGTGATGTCACATCTAGGA	0.373													28	227					0	0	0.037714	0	0	G	81354375	C	G	81354375	4	3	131	1	0	0	0	0	0	1	0	0	1088	838	29	4	176	4	ATG10	5	81354375	Nonsense_Mutation	SNP	C	TCGA-G9-6362-01A-11D-1786-08	2939256	81354375	99560885	20	6455											
PCDHGA1	0	broad.mit.edu	37	chr5	140711178	140711178	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aataaagaaccactagatttCgaagaatacaaaatgtattc	20	10	5	6	1	0	3	0	0	0	3	2	4	0	3	1	0	2	1	1	0	11	6	rs148638556		TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr5:140711178C>T	ENST00000517417.1	+	1	927	c.927C>T	c.(925-927)ttC>ttT	p.F309F	PCDHGA1_ENST00000378105.3_Silent_p.F309F	NM_018912.2	NP_061735.1												p.F309F(3)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACTAGATTTCGAAGAATACA	0.373													6	44					0	0	0.021553	0	0	T	140711178	C	T	140711178	2	4	131	1	0	0	0	0	0	0	0	1	11597	883	31	1		1	PCDHGA1	5	140711178	Silent	SNP	C	TCGA-G9-6362-01A-11D-1786-08	59356803	140711178	40204082	21	6456											
HIST1H2AB	8335	broad.mit.edu	37	chr6	26033605	26033605	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgcattgcccgccagctcCaggatctcggcggtcaggta	6	7	13	15	4	2	0	1	0	1	0	4	1	3	1	4	4	2	3	4	4	1	2			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr6:26033605C>T	ENST00000259791.2	-	1	191	c.192G>A	c.(190-192)ctG>ctA	p.L64L		NM_003513.2	NP_003504.2	P04908	H2A1B_HUMAN	histone cluster 1, H2ab	64					nucleosome assembly	nucleosome|nucleus	DNA binding	p.L64L(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						CCGCCAGCTCCAGGATCTCGG	0.637													11	56					0	0	0.080935	0	0	T	26033605	C	T	26033605	2	4	131	1	0	0	0	0	0	0	0	1	7170	581	21	2		2	HIST1H2AB	6	26033605	Silent	SNP	C	TCGA-G9-6362-01A-11D-1786-08		26033605	145081462	22	6457											
UHRF1BP1	54887	broad.mit.edu	37	chr6	34804091	34804091	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcatctcccgcctggacctGcacatttgtgatgatagcca	8	11	8	14	1	2	2	1	2	1	0	3	3	2	3	4	1	2	1	4	1	1	2			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr6:34804091G>T	ENST00000192788.5	+	8	1170	c.999G>T	c.(997-999)ctG>ctT	p.L333L	UHRF1BP1_ENST00000452449.2_Silent_p.L333L	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	333								p.L333L(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						GCCTGGACCTGCACATTTGTG	0.577													31	75					2.81731e-10	3.19576e-10	0.045705	1	0	T	34804091	G	T	34804091	2	4	131	1	0	0	0	0	0	0	0	1	17028	1306	46	4		4	UHRF1BP1	6	34804091	Silent	SNP	G	TCGA-G9-6362-01A-11D-1786-08	8770486	34804091	136310976	23	6458											
PKHD1	5314	broad.mit.edu	37	chr6	51915071	51915071	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agattgccccctgggcgagcCgttccagaatcagcttgaga	9	8	12	12	2	1	3	1	1	0	3	2	5	2	3	4	1	3	2	4	1	1	3			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr6:51915071C>T	ENST00000371117.3	-	22	2438	c.2163G>A	c.(2161-2163)acG>acA	p.T721T	PKHD1_ENST00000340994.4_Silent_p.T721T	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	721					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.T721T(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTGGGCGAGCCGTTCCAGAAT	0.537											OREG0017493	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	92					0	0	0.038147	0	0	T	51915071	C	T	51915071	2	4	131	1	0	0	0	0	0	0	0	1	12019	639	23	1		1	PKHD1	6	51915071	Silent	SNP	C	TCGA-G9-6362-01A-11D-1786-08	17110980	51915071	119199996	24	6459											
INTS10	55174	broad.mit.edu	37	chr8	19690802	19690802	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agggcgctcatccagctggcGacgtgccactttgcgctagg	6	8	14	13	4	1	0	1	0	0	0	2	1	2	0	2	3	3	3	2	3	1	2			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr8:19690802G>A	ENST00000397977.3	+	12	1898	c.1500G>A	c.(1498-1500)gcG>gcA	p.A500A		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	500					snRNA processing	integrator complex	protein binding	p.A500A(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		TCCAGCTGGCGACGTGCCACT	0.607													12	44					0	0	0.105934	0	0	A	19690802	G	A	19690802	2	1	131	1	0	0	0	0	0	0	0	1	7820	1045	37	1		1	INTS10	8	19690802	Silent	SNP	G	TCGA-G9-6362-01A-11D-1786-08		19690802	126673220	25	6460											
FUT10	84750	broad.mit.edu	37	chr8	33246843	33246843	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtgatgtagtcatcacaaaCtgcattctcaaaagctagga	15	10	8	8	0	3	1	3	1	1	0	4	2	3	2	0	1	3	3	0	1	5	3			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr8:33246843C>T	ENST00000327671.5	-	4	1481	c.850G>A	c.(850-852)Gtt>Att	p.V284I	FUT10_ENST00000518076.1_5'UTR|FUT10_ENST00000518672.1_Missense_Mutation_p.V256I|FUT10_ENST00000524021.1_Missense_Mutation_p.V256I|FUT10_ENST00000335589.3_Missense_Mutation_p.V222I	NM_032664.3	NP_116053.3	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10 (alpha (1,3) fucosyltransferase)	284					embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	p.V284I(1)		cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		TCATCACAAACTGCATTCTCA	0.468													8	46					0	0	0.038147	0	0	T	33246843	C	T	33246843	3	4	131	1	0	0	0	0	1	0	0	0	6137	565	20	2	597	2	FUT10	8	33246843	Missense_Mutation	SNP	C	TCGA-G9-6362-01A-11D-1786-08	13556041	33246843	113117179	26	6461											
DNAJC5B	85479	broad.mit.edu	37	chr8	67012255	67012255	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggatctcgaagttattgcAcagactcttgatattgagcc	12	12	9	8	1	2	3	0	2	2	1	3	5	2	4	1	1	2	2	1	1	4	5			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr8:67012255A>T	ENST00000276570.5	+	6	876	c.589A>T	c.(589-591)Aca>Tca	p.T197S	DNAJC5B_ENST00000519330.1_3'UTR	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 beta	197					protein folding	membrane	heat shock protein binding|unfolded protein binding	p.T197S(1)		endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			AAGTTATTGCACAGACTCTTG	0.448													4	24					0	0	0.014758	0	0	T	67012255	A	T	67012255	3	4	131	1	0	0	0	0	1	0	0	0	4678	159	6	5	603	5	DNAJC5B	8	67012255	Missense_Mutation	SNP	A	TCGA-G9-6362-01A-11D-1786-08	33765412	67012255	79351767	27	6462											
FAM83H	286077	broad.mit.edu	37	chr8	144811144	144811144	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgcgggcgcacctgtagcTcccactcatcaccacggcac	7	5	9	20	4	2	0	2	0	0	0	3	0	3	0	4	2	1	4	4	2	1	1			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr8:144811144T>C	ENST00000388913.3	-	4	855	c.730A>G	c.(730-732)Agc>Ggc	p.S244G		NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	244					biomineral tissue development			p.S244G(1)		central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CACCTGTAGCTCCCACTCATC	0.662													8	108					0	0	0.047766	0	0	C	144811144	T	C	144811144	3	2	131	1	0	0	0	0	1	0	0	0	5672	1551	54	3	2817	3	FAM83H	8	144811144	Missense_Mutation	SNP	T	TCGA-G9-6362-01A-11D-1786-08	77798889	144811144	1552878	28	6463											
CDK5RAP2	55755	broad.mit.edu	37	chr9	123171436	123171436	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggccgctgcagcggacctCctggatcagctgctggttgt	4	10	14	13	2	1	0	1	0	0	0	2	2	2	2	3	4	4	5	3	4	0	1			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr9:123171436C>A	ENST00000349780.4	-	30	4752	c.4573G>T	c.(4573-4575)Gag>Tag	p.E1525*	CDK5RAP2_ENST00000359309.3_Nonsense_Mutation_p.E1484*|CDK5RAP2_ENST00000360822.3_Nonsense_Mutation_p.E1493*|CDK5RAP2_ENST00000360190.4_Nonsense_Mutation_p.E1525*	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1525					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	p.E1525*(1)		breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CAGCGGACCTCCTGGATCAGC	0.612													5	70					0.014758	0.0153645	0.014758	1	0	A	123171436	C	A	123171436	4	1	131	1	0	0	0	0	0	1	0	0	3168	864	30	4	1144	4	CDK5RAP2	9	123171436	Nonsense_Mutation	SNP	C	TCGA-G9-6362-01A-11D-1786-08		123171436	18041995	29	6464											
SLC25A25	114789	broad.mit.edu	37	chr9	130854176	130854176	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagatgctgtggcatttcctAgctagctttttccccagggc	6	13	10	12	0	0	1	0	0	0	1	2	1	2	1	3	2	3	4	3	2	2	5			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr9:130854176A>G	ENST00000373066.5	+	1	434	c.27A>G	c.(25-27)ctA>ctG	p.L9L	SLC25A25_ENST00000373069.5_Intron|SLC25A25_ENST00000432073.2_Silent_p.L9L|RP11-379C10.4_ENST00000453870.1_RNA|SLC25A25_ENST00000373068.2_Intron	NM_001265614.2	NP_001252543.1	Q6KCM7	SCMC2_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25	0					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding	p.L9L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						GGCATTTCCTAGCTAGCTTTT	0.577													95	161					0	0	0.048971	0	0	G	130854176	A	G	130854176	2	3	131	1	0	0	0	0	0	0	0	1	14543	407	15	3		3	SLC25A25	9	130854176	Silent	SNP	A	TCGA-G9-6362-01A-11D-1786-08	7682740	130854176	10359255	30	6465											
FIBCD1	84929	broad.mit.edu	37	chr9	133780631	133780631	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagcctcacctgcagtgccGgaatagtcagccacggtgag	9	6	14	12	2	2	1	2	1	0	0	2	3	2	3	4	3	4	1	4	3	2	1	rs142382814		TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr9:133780631G>A	ENST00000372338.4	-	6	1358	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	FIBCD1_ENST00000372337.2_Silent_p.S214S|FIBCD1_ENST00000448616.1_Silent_p.S372S|FIBCD1_ENST00000253018.4_Intron	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	372	Fibrinogen C-terminal.				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding	p.S372S(1)		kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		CTGCAGTGCCGGAATAGTCAG	0.647													8	19					0	0	0.069234	0	0	A	133780631	G	A	133780631	2	1	131	1	0	0	0	0	0	0	0	1	5917	1103	39	1		1	FIBCD1	9	133780631	Silent	SNP	G	TCGA-G9-6362-01A-11D-1786-08	2926455	133780631	7432800	31	6466											
CYB5R2	51700	broad.mit.edu	37	chr11	7690490	7690490	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgaaaaaagatggtctcccCgattttcatgttctccaaat	12	13	6	10	2	3	1	1	0	2	1	6	3	3	1	3	1	0	1	3	1	4	3			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr11:7690490C>T	ENST00000533558.1	-	5	890	c.334G>A	c.(334-336)Ggg>Agg	p.G112R	CYB5R2_ENST00000524790.1_Missense_Mutation_p.G112R|CYB5R2_ENST00000299498.6_Missense_Mutation_p.G112R|CYB5R2_ENST00000528585.1_5'UTR|CYB5R2_ENST00000299497.9_Missense_Mutation_p.G112R			Q6BCY4	NB5R2_HUMAN	cytochrome b5 reductase 2	112	FAD-binding FR-type.				sterol biosynthetic process	membrane|soluble fraction	cytochrome-b5 reductase activity	p.G112R(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11				Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ATGGTCTCCCCGATTTTCATG	0.483													15	115					0	0	0.024245	0	0	T	7690490	C	T	7690490	3	4	131	1	0	0	0	0	1	0	0	0	4150	652	23	1	516	1	CYB5R2	11	7690490	Missense_Mutation	SNP	C	TCGA-G9-6362-01A-11D-1786-08		7690490	127316026	32	6467											
OR5T2	219464	broad.mit.edu	37	chr11	55999741	55999741	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacactatcatgtcatggtcCgaagcatagctggaacttgg	11	10	11	9	1	2	0	2	0	0	0	3	3	3	1	1	3	3	2	1	3	4	3			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr11:55999741C>T	ENST00000313264.4	-	1	996	c.921G>A	c.(919-921)tcG>tcA	p.S307S		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S307S(1)		endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					TGTCATGGTCCGAAGCATAGC	0.408													6	143					0	0	0.02938	0	0	T	55999741	C	T	55999741	2	4	131	1	0	0	0	0	0	0	0	1	11229	639	23	1		1	OR5T2	11	55999741	Silent	SNP	C	TCGA-G9-6362-01A-11D-1786-08	48309251	55999741	79006775	33	6468											
EFEMP2	30008	broad.mit.edu	37	chr11	65637423	65637423	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcagcgctgctcgcatgggGcccccatgtcacactcgttc	6	8	11	16	3	1	0	1	0	0	0	4	0	1	0	2	2	3	5	2	2	0	1			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr11:65637423G>C	ENST00000307998.6	-	7	862	c.632C>G	c.(631-633)gCc>gGc	p.A211G	EFEMP2_ENST00000528176.1_Missense_Mutation_p.A211G	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	211	EGF-like 4; calcium-binding (Potential).				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity	p.A211G(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		CTCGCATGGGGCCCCCATGTC	0.607													9	127					0	0	0.058154	0	0	C	65637423	G	C	65637423	3	2	131	1	0	0	0	0	1	0	0	0	4968	1203	42	4	719	4	EFEMP2	11	65637423	Missense_Mutation	SNP	G	TCGA-G9-6362-01A-11D-1786-08	9637682	65637423	69369093	34	6469											
OR4D5	219875	broad.mit.edu	37	chr11	123811134	123811134	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattccccatggacaaggccGtctctgtgctatacacaatt	10	11	7	13	1	1	0	0	0	1	0	3	1	2	1	3	2	2	1	3	2	4	4			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr11:123811134G>A	ENST00000307033.2	+	1	885	c.811G>A	c.(811-813)Gtc>Atc	p.V271I		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V271I(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GGACAAGGCCGTCTCTGTGCT	0.493													36	140					0	0	0.069456	0	0	A	123811134	G	A	123811134	3	1	131	1	0	0	0	0	1	0	0	0	11105	1145	40	1	813	1	OR4D5	11	123811134	Missense_Mutation	SNP	G	TCGA-G9-6362-01A-11D-1786-08	58173711	123811134	11195382	35	6470											
NTM	50863	broad.mit.edu	37	chr11	132180059	132180059	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtgtccccgtgggacaaaagGggacactgcagtgtgaagcc	10	6	15	10	1	0	1	0	1	0	0	1	3	1	3	3	3	2	1	3	3	3	0			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr11:132180059G>T	ENST00000374786.1	+	5	1194	c.715G>T	c.(715-717)Ggg>Tgg	p.G239W	NTM_ENST00000539799.1_Missense_Mutation_p.G239W|NTM_ENST00000425719.2_Missense_Mutation_p.G239W|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000374784.1_Missense_Mutation_p.G239W|NTM_ENST00000427481.2_Missense_Mutation_p.G230W|NTM_ENST00000374791.3_Missense_Mutation_p.G239W	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	239	Ig-like C2-type 3.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		p.G239W(2)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						GGGACAAAAGGGGACACTGCA	0.498													18	169					5.35267e-07	5.81147e-07	0.043863	1	0	T	132180059	G	T	132180059	3	4	131	1	0	0	0	0	1	0	0	0	10747	1232	43	4	819	4	NTM	11	132180059	Missense_Mutation	SNP	G	TCGA-G9-6362-01A-11D-1786-08	8368925	132180059	2826457	36	6471											
SLC24A6	0	broad.mit.edu	37	chr12	113748108	113748108	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagccaaggctgtgcctgcGatcaccaccacgacccagac	11	4	10	16	2	1	1	1	0	0	1	1	4	1	1	5	1	3	1	5	1	2	0	rs138371135		TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr12:113748108G>T	ENST00000552014.1	-	13	1703	c.1188C>A	c.(1186-1188)atC>atA	p.I396I	SLC24A6_ENST00000553238.1_5'UTR|SLC24A6_ENST00000202831.3_Silent_p.I396I|SLC24A6_ENST00000546737.1_Silent_p.I340I			Q6J4K2	NCKX6_HUMAN		396					response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity	p.I396I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						CTGTGCCTGCGATCACCACCA	0.587													50	56					3.4597e-24	3.9839e-24	0.048971	1	0	T	113748108	G	T	113748108	2	4	131	1	0	0	0	0	0	0	0	1	14525	1048	37	4		4	SLC24A6	12	113748108	Silent	SNP	G	TCGA-G9-6362-01A-11D-1786-08		113748108	20103787	37	6472											
ZIC2	7546	broad.mit.edu	37	chr13	100635173	100635173	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accatgcacgagctggtgacAcacgtctcggtggagcacgt	9	7	13	12	4	1	1	0	1	1	0	2	3	1	2	1	3	3	3	1	3	0	0			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr13:100635173A>G	ENST00000376335.3	+	1	1148	c.855A>G	c.(853-855)acA>acG	p.T285T		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	285					brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T285T(1)		large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AGCTGGTGACACACGTCTCGG	0.582													53	71					0	0	0.048971	0	0	G	100635173	A	G	100635173	2	3	131	1	0	0	0	0	0	0	0	1	17737	146	6	3		3	ZIC2	13	100635173	Silent	SNP	A	TCGA-G9-6362-01A-11D-1786-08		100635173	14534705	38	6473											
SLC10A2	6555	broad.mit.edu	37	chr13	103710721	103710721	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caagcagtgtggagcatgtgGtcatgctgacgctgaaaggc	10	8	15	8	1	1	2	1	2	0	0	1	3	1	3	0	3	3	4	0	3	2	0			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr13:103710721G>T	ENST00000245312.3	-	2	985	c.389C>A	c.(388-390)aCc>aAc	p.T130N		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	130					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity	p.T130N(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GGAGCATGTGGTCATGCTGAC	0.433													5	51					1.23904e-05	1.30788e-05	0.014758	1	0	T	103710721	G	T	103710721	3	4	131	1	0	0	0	0	1	0	0	0	14429	1261	44	4	677	4	SLC10A2	13	103710721	Missense_Mutation	SNP	G	TCGA-G9-6362-01A-11D-1786-08	3075548	103710721	11459157	39	6474											
COQ6	51004	broad.mit.edu	37	chr14	74426130	74426130	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgacacagctctcagacaccTtgagttccttggtttggtcc	7	13	9	12	0	1	3	1	2	1	1	4	3	3	3	3	2	1	3	3	2	0	4	rs113814754		TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr14:74426130T>C	ENST00000334571.2	+	8	836	c.796T>C	c.(796-798)Ttg>Ctg	p.L266L	ENTPD5_ENST00000557325.1_3'UTR|COQ6_ENST00000554920.1_Intron|COQ6_ENST00000394026.4_Silent_p.L241L|COQ6_ENST00000238709.4_Silent_p.L191L	NM_182476.2	NP_872282.1	Q9Y2Z9	COQ6_HUMAN	coenzyme Q6 monooxygenase	266					ubiquinone biosynthetic process	mitochondrion	flavin adenine dinucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen	p.L266L(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(234;0.00337)		CTCAGACACCTTGAGTTCCTT	0.448													52	78					0	0	0.048971	0	0	C	74426130	T	C	74426130	2	2	131	1	0	0	0	0	0	0	0	1	3772	1606	56	3		3	COQ6	14	74426130	Silent	SNP	T	TCGA-G9-6362-01A-11D-1786-08		74426130	32923410	40	6475											
ABCC11	85320	broad.mit.edu	37	chr16	48258247	48258247	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccagaagtgcatcgaaaatCaaccttgttctctggaacct	12	10	7	12	1	2	1	1	0	1	1	4	3	2	2	3	1	3	2	3	1	5	2			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr16:48258247C>G	ENST00000394747.1	-	4	838	c.489G>C	c.(487-489)ttG>ttC	p.L163F	ABCC11_ENST00000537808.1_Missense_Mutation_p.L163F|ABCC11_ENST00000356608.2_Missense_Mutation_p.L163F|ABCC11_ENST00000394748.1_Missense_Mutation_p.L163F|ABCC11_ENST00000353782.5_Missense_Mutation_p.L163F	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	163	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.L163F(2)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				CATCGAAAATCAACCTTGTTC	0.507													8	25					0	0	0.038147	0	0	G	48258247	C	G	48258247	3	3	131	1	0	0	0	0	1	0	0	0	51	825	29	4	3763	4	ABCC11	16	48258247	Missense_Mutation	SNP	C	TCGA-G9-6362-01A-11D-1786-08		48258247	42096506	41	6476											
RDM1	201299	broad.mit.edu	37	chr17	34249537	34249537	+	Nonstop_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcaaaatgagtttatttgcTtactgaaactgaagtacttc	13	16	6	6	0	1	3	1	3	0	0	2	3	1	3	0	0	4	3	0	0	7	7			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr17:34249537T>G	ENST00000430160.2	-	4	1112	c.642A>C	c.(640-642)taA>taC	p.*214Y	RDM1_ENST00000394528.3_Nonstop_Mutation_p.*237Y|RDM1_ENST00000431884.2_Intron|RDM1_ENST00000394529.3_Intron|RDM1_ENST00000419453.2_Intron|RDM1_ENST00000425909.3_Intron|RDM1_ENST00000394527.1_3'UTR|RDM1_ENST00000591402.1_Intron|RDM1_ENST00000293273.6_Intron			Q8NG50	RDM1_HUMAN	RAD52 motif 1	0					DNA recombination|DNA repair	Cajal body|cytoplasm|nucleolus|PML body	DNA binding|nucleotide binding|RNA binding	p.*237Y(1)		breast(1)|kidney(3)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)	9		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GTTTATTTGCTTACTGAAACT	0.318								Other identified genes with known or suspected DNA repair function					15	94					0	0	0.020292	0	0	G	34249537	T	G	34249537	4	3	131	1	0	0	0	0	0	0	0	0	13249	1616	56	5	199	5	RDM1	17	34249537	Nonstop_Mutation	SNP	T	TCGA-G9-6362-01A-11D-1786-08		34249537	46945673	42	6477											
KRT15	3866	broad.mit.edu	37	chr17	39673185	39673185	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccgttgatgtcagcctcaaCgccctggcgcagggccagct	6	7	13	15	3	2	1	2	1	0	0	2	1	2	1	4	2	3	3	4	2	1	1	rs138271368		TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr17:39673185C>T	ENST00000254043.3	-	3	4198	c.613G>A	c.(613-615)Gtt>Att	p.V205I	KRT15_ENST00000393974.3_Missense_Mutation_p.V40I|KRT15_ENST00000393976.2_Missense_Mutation_p.V205I|KRT15_ENST00000393981.3_Missense_Mutation_p.V40I	NM_002275.3	NP_002266.2	P19012	K1C15_HUMAN	keratin 15	205	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	p.V205I(3)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				TCAGCCTCAACGCCCTGGCGC	0.612													35	60					0	0	0.11126	0	0	T	39673185	C	T	39673185	3	4	131	1	0	0	0	0	1	0	0	0	8495	536	19	1	781	1	KRT15	17	39673185	Missense_Mutation	SNP	C	TCGA-G9-6362-01A-11D-1786-08	5423648	39673185	41522025	43	6478											
CBX8	57332	broad.mit.edu	37	chr17	77768836	77768836	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaccacactgcaccaggtcCgagtcctgtcttcgggccag	8	7	10	16	2	1	0	0	0	1	0	4	1	3	0	5	2	1	1	5	2	0	1			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr17:77768836C>T	ENST00000269385.4	-	5	885	c.768G>A	c.(766-768)tcG>tcA	p.S256S		NM_020649.2	NP_065700.1	Q9HC52	CBX8_HUMAN	chromobox homolog 8	256					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex	methylated histone residue binding	p.S256S(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GCACCAGGTCCGAGTCCTGTC	0.627													7	11					0	0	0.038147	0	0	T	77768836	C	T	77768836	2	4	131	1	0	0	0	0	0	0	0	1	2742	661	23	1		1	CBX8	17	77768836	Silent	SNP	C	TCGA-G9-6362-01A-11D-1786-08	38095651	77768836	3426374	44	6479											
C17orf70	80233	broad.mit.edu	37	chr17	79518970	79518970	+	Frame_Shift_Del	DEL	G	G	-																															tcacctgctcctgcccgggtGgtccagcgacaggcagtaga																										TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr17:79518970delG	ENST00000327787.8	-	2	320	c.274delC	c.(274-276)acfs	p.H92fs	C17orf70_ENST00000537152.1_5'UTR			Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	92					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			CTGCCCGGGTGGTCCAGCGAC	0.736													2	4	---	---	---	---						-	79518970	G	-	79518970	7	5	131	1	0	1	0	1	0	0	0	0	1886	1348	47	0	2403	0	C17orf70	17	79518970	Frame_Shift_Del	DEL	G	TCGA-G9-6362-01A-11D-1786-08	1750134	79518970	1676240	45	6480											
TBXA2R	0	broad.mit.edu	37	chr19	3600542	3600542	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccacgcagaaggaggcggCgaaccagggcgaggcgatca	12	1	16	12	5	1	1	1	0	0	1	1	5	1	2	2	5	1	1	2	5	2	0			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr19:3600542C>T	ENST00000375190.4	-	2	484	c.91G>A	c.(91-93)Gcc>Acc	p.A31T	TBXA2R_ENST00000589966.1_Missense_Mutation_p.A31T|TBXA2R_ENST00000411851.3_Missense_Mutation_p.A31T	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor	31					platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity	p.A31T(1)		kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	AAGGAGGCGGCGAACCAGGGC	0.697													9	23					0	0	0.058154	0	0	T	3600542	C	T	3600542	3	4	131	1	0	0	0	0	1	0	0	0	15723	768	27	1	1193	1	TBXA2R	19	3600542	Missense_Mutation	SNP	C	TCGA-G9-6362-01A-11D-1786-08		3600542	55528441	46	6481											
ZNF576	79177	broad.mit.edu	37	chr19	44103050	44103050	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattccaagttccaggagcgTcacatgaagcgggagcaccc	11	6	12	12	2	1	1	1	1	0	0	3	4	3	3	3	2	3	2	3	2	2	2			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr19:44103050T>C	ENST00000336564.4	+	3	307	c.153T>C	c.(151-153)cgT>cgC	p.R51R	SRRM5_ENST00000526798.1_Intron|ZNF576_ENST00000533118.1_Silent_p.R51R|ZNF576_ENST00000528387.1_Silent_p.R51R|SRRM5_ENST00000607544.1_Intron|ZNF576_ENST00000525771.1_Silent_p.R51R|ZNF576_ENST00000529930.1_Silent_p.R51R|ZNF576_ENST00000391965.2_Silent_p.R51R	NM_001145347.1	NP_001138819.1	Q9H609	ZN576_HUMAN	zinc finger protein 576	51					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R51R(1)		endometrium(1)|prostate(1)	2		Prostate(69;0.0199)				TCCAGGAGCGTCACATGAAGC	0.647													4	143					0	0	0.021553	0	0	C	44103050	T	C	44103050	2	2	131	1	0	0	0	0	0	0	0	1	18065	1654	58	3		3	ZNF576	19	44103050	Silent	SNP	T	TCGA-G9-6362-01A-11D-1786-08	40502508	44103050	15025933	47	6482											
KCNB1	3745	broad.mit.edu	37	chr20	47991220	47991220	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagatctggaccacgcggcGgacattctggaattgcagca	11	7	13	10	3	2	1	0	0	2	1	2	5	2	4	1	4	2	2	1	4	2	2			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chr20:47991220G>A	ENST00000371741.4	-	2	1043	c.877C>T	c.(877-879)Cgc>Tgc	p.R293C		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	293					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	p.R293C(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			ACCACGCGGCGGACATTCTGG	0.542													3	89					0	0	0.009096	0	0	A	47991220	G	A	47991220	3	1	131	1	0	0	0	0	1	0	0	0	8056	1116	39	1	1703	1	KCNB1	20	47991220	Missense_Mutation	SNP	G	TCGA-G9-6362-01A-11D-1786-08		47991220	15034300	48	6483											
BAGE2	85319	broad.mit.edu	37	chr21	11058322	11058322	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtgcttacaaaatgcacatCgctgaaaggggtaaaggaga	16	7	12	6	1	0	2	0	1	0	1	1	3	0	2	0	3	3	4	0	3	6	2			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr21:11058322C>T	ENST00000470054.1	-	0	325									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)		AAATGCACATCGCTGAAAGGG	0.383													5	172					0	0	0.02938	0	0	T	11058322	C	T	11058322	1	4	131	0	1	0	0	0	0	0	0	0	1290	898	31	1		1	BAGE2	21	11058322	RNA	SNP	C	TCGA-G9-6362-01A-11D-1786-08		11058322	37071573	49	6484											
CLTCL1	8218	broad.mit.edu	37	chr22	19241488	19241488	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcaaggcttacctgagcCgagatgcctacgagcagcag	11	6	12	12	2	1	2	1	1	0	1	1	4	1	2	3	1	7	4	3	1	3	2			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chr22:19241488C>T	ENST00000263200.10	-	3	585	c.513G>A	c.(511-513)tcG>tcA	p.S171S	CLTCL1_ENST00000353891.5_Silent_p.S171S|CLTCL1_ENST00000427926.1_Silent_p.S171S	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	171	Globular terminal domain.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TTACCTGAGCCGAGATGCCTA	0.478			T	?	ALCL								10	11					0	0	0.069234	0	0	T	19241488	C	T	19241488	2	4	131	1	0	0	0	0	0	0	0	1	3590	639	23	1		1	CLTCL1	22	19241488	Silent	SNP	C	TCGA-G9-6362-01A-11D-1786-08		19241488	32063078	50	6485											
MXRA5	25878	broad.mit.edu	37	chrX	3227796	3227796	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttgttttggagtcactgccGagaatgttttttgccatgca	7	16	11	7	1	1	1	1	0	0	1	1	3	1	2	2	1	3	4	2	1	1	6			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chrX:3227796G>A	ENST00000217939.6	-	7	8602	c.8448C>T	c.(8446-8448)ctC>ctT	p.L2816L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2816	Ig-like C2-type 12.					extracellular region		p.L2816L(3)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AGTCACTGCCGAGAATGTTTT	0.468													20	3					0	0	0.055883	0	0	A	3227796	G	A	3227796	2	1	131	1	0	0	0	0	0	0	0	1	10051	1045	37	1		1	MXRA5	23	3227796	Silent	SNP	G	TCGA-G9-6362-01A-11D-1786-08		3227796	152042764	51	6486											
MED14	9282	broad.mit.edu	37	chrX	40572273	40572273	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcaaattctccttcaacaCgaaacttcacccggccattt	11	12	3	15	2	4	0	3	0	1	0	5	1	4	0	3	1	2	0	3	1	3	5			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chrX:40572273C>T	ENST00000324817.1	-	6	792	c.674G>A	c.(673-675)cGt>cAt	p.R225H		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	225	Interaction with STAT2.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.R225H(2)		NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCCTTCAACACGAAACTTCAC	0.403													11	3					0	0	0.069234	0	0	T	40572273	C	T	40572273	3	4	131	1	0	0	0	0	1	0	0	0	9482	536	19	1	3794	1	MED14	23	40572273	Missense_Mutation	SNP	C	TCGA-G9-6362-01A-11D-1786-08	37344477	40572273	114698287	52	6487											
MED12	9968	broad.mit.edu	37	chrX	70356862	70356862	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cataggcctgtacacccagaAccagccactacctgcaggtg	11	6	9	15	0	0	1	0	0	0	1	0	1	0	1	5	2	5	2	5	2	4	3			TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	b9b344e8-a353-4ba6-a58f-46fb67489ffa	g.chrX:70356862A>C	ENST00000333646.6	+	38	5733	c.5534A>C	c.(5533-5535)aAc>aCc	p.N1845T	MED12_ENST00000374080.3_Missense_Mutation_p.N1845T|MED12_ENST00000478889.1_3'UTR|MED12_ENST00000374102.1_Missense_Mutation_p.N1845T	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1845	Interaction with CTNNB1 and GLI3.				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TACACCCAGAACCAGCCACTA	0.567			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome						3	5					0	0	0.009096	0	0	C	70356862	A	C	70356862	3	2	131	1	0	0	0	0	1	0	0	0	9478	43	2	5	5684	5	MED12	23	70356862	Missense_Mutation	SNP	A	TCGA-G9-6362-01A-11D-1786-08	29784589	70356862	84913698	53	6488											
ZMYM3	9203	broad.mit.edu	37	chrX	70461110	70461110	+	Missense_Mutation	SNP	G	G	C																															agaattcatagaacttgacaGggcagcggaggggattcatg																										TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chrX:70461110G>C	ENST00000373998.1	-	24	4548	c.3851C>G	c.(3850-3852)cCt>cGt	p.P1284R	ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373988.1_Missense_Mutation_p.P1298R|ZMYM3_ENST00000314425.5_Missense_Mutation_p.P1296R|ZMYM3_ENST00000373984.3_Missense_Mutation_p.P1206R|ZMYM3_ENST00000353904.2_Missense_Mutation_p.P1296R	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1296					multicellular organismal development	nucleus	DNA binding|zinc ion binding	p.P1296R(1)		breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					GAACTTGACAGGGCAGCGGAG	0.512													5	23					0	0	0.021553	0	0	C	70461110	G	C	70461110	3	2	131	1	0	0	0	0	1	0	0	0	17759	1000	35	4	233	4	ZMYM3	23	70461110	Missense_Mutation	SNP	G	TCGA-G9-6362-01A-11D-1786-08	104248	70461110	84809450	54	6489	36	2									
ZMYM3	9203	broad.mit.edu	37	chrX	70461111	70461111	+	Missense_Mutation	SNP	G	G	T																															gaattcatagaacttgacagGgcagcggaggggattcatgc																										TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chrX:70461111G>T	ENST00000373998.1	-	24	4547	c.3850C>A	c.(3850-3852)Cct>Act	p.P1284T	ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373988.1_Missense_Mutation_p.P1298T|ZMYM3_ENST00000314425.5_Missense_Mutation_p.P1296T|ZMYM3_ENST00000373984.3_Missense_Mutation_p.P1206T|ZMYM3_ENST00000353904.2_Missense_Mutation_p.P1296T	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1296					multicellular organismal development	nucleus	DNA binding|zinc ion binding	p.P1296T(1)		breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					AACTTGACAGGGCAGCGGAGG	0.507													5	23					5.9392e-07	6.35745e-07	0.021553	1	0	T	70461111	G	T	70461111	3	4	131	1	0	0	0	0	1	0	0	0	17759	1232	43	4	234	4	ZMYM3	23	70461111	Missense_Mutation	SNP	G	TCGA-G9-6362-01A-11D-1786-08	1	70461111	84809449	55	6490	36	2									
GABRE	2564	broad.mit.edu	37	chrX	151138818	151138818	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaggctggggctgggggccaTagacaacatcacgggaagag	11	4	18	8	1	1	2	1	0	0	2	1	4	1	3	1	6	1	2	1	6	3	1	rs61730039	byFrequency	TCGA-G9-6362-01A-11D-1786-08	TCGA-G9-6362-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54a3aeec-d8b4-49fe-bf4a-8727ce1d8c06	365931c6-7328-42e9-919f-3b96847af1cc	g.chrX:151138818T>C	ENST00000370325.1	-	2	166	c.113A>G	c.(112-114)tAt>tGt	p.Y38C	GABRE_ENST00000393914.3_5'UTR|GABRE_ENST00000370328.3_Missense_Mutation_p.Y38C			P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	38					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.Y38C(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CTGGGGGCCATAGACAACATC	0.512													81	15					0	0	0.048971	0	0	C	151138818	T	C	151138818	3	2	131	1	0	0	0	0	1	0	0	0	6205	1406	49	3	1439	3	GABRE	23	151138818	Missense_Mutation	SNP	T	TCGA-G9-6362-01A-11D-1786-08	80677707	151138818	4131742	56	6491											
MAST2	23139	broad.mit.edu	37	chr1	46493409	46493409	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttcgttcttccagcctcctAattacatccatggggcacat	8	13	6	14	1	1	0	0	0	1	0	5	0	4	0	4	2	2	2	4	2	2	5			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr1:46493409A>T	ENST00000361297.2	+	17	2209	c.1926A>T	c.(1924-1926)ctA>ctT	p.L642L	MAST2_ENST00000372009.2_Silent_p.L572L|MAST2_ENST00000372008.1_Silent_p.L527L	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	642	Protein kinase.				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity	p.L642L(1)		breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CCAGCCTCCTAATTACATCCA	0.423													29	69					0	0	0.001786	0	0	T	46493409	A	T	46493409	2	4	132	1	0	0	0	0	0	0	0	1	9375	349	13	5		5	MAST2	1	46493409	Silent	SNP	A	TCGA-G9-6363-01A-21D-1786-08		46493409	202757212	1	6492											
JAK1	3716	broad.mit.edu	37	chr1	65300335	65300335	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcatttcctcataagttgAtaaacctgtaaaaagaaaga	18	10	6	7	0	1	3	1	1	0	2	2	3	2	3	2	0	2	3	2	0	7	5			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr1:65300335A>C	ENST00000342505.4	-	25	3623	c.3375T>G	c.(3373-3375)taT>taG	p.Y1125*		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	1125	Protein kinase 2.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	p.Y1125*(1)		breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		TCATAAGTTGATAAACCTGTA	0.303			Mis		ALL								3	66					0	0	0.004672	0	0	C	65300335	A	C	65300335	4	2	132	1	0	0	0	0	0	1	0	0	7981	340	12	5	93	5	JAK1	1	65300335	Nonsense_Mutation	SNP	A	TCGA-G9-6363-01A-21D-1786-08	18806926	65300335	183950286	2	6493											
JAK1	3716	broad.mit.edu	37	chr1	65301865	65301865	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagacgtcagaggcaatataAaatttagattgcattaaaca	18	10	7	6	1	1	3	1	0	0	3	1	3	1	3	0	1	2	2	0	1	7	6			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr1:65301865A>C	ENST00000342505.4	-	23	3422	c.3174T>G	c.(3172-3174)ttT>ttG	p.F1058L		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	1058	Protein kinase 2.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	p.F1058L(1)		breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		AGGCAATATAAAATTTAGATT	0.423			Mis		ALL								3	35					0	0	0.004672	0	0	C	65301865	A	C	65301865	3	2	132	1	0	0	0	0	1	0	0	0	7981	11	1	5	302	5	JAK1	1	65301865	Missense_Mutation	SNP	A	TCGA-G9-6363-01A-21D-1786-08	1530	65301865	183948756	3	6494											
FAM78B	149297	broad.mit.edu	37	chr1	166039642	166039642	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgcccaccagccgggcccGctgccccaagagctgaagag	8	3	12	18	2	0	3	0	1	0	2	0	3	0	3	7	1	4	2	7	1	2	0			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr1:166039642G>A	ENST00000338353.3	-	3	1211	c.622C>T	c.(622-624)Cgg>Tgg	p.R208W	FAM78B_ENST00000354422.3_Missense_Mutation_p.R208W			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B	208								p.R208W(2)		central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					AGCCGGGCCCGCTGCCCCAAG	0.582													24	62					0	0	0.00278	0	0	A	166039642	G	A	166039642	3	1	132	1	0	0	0	0	1	0	0	0	5659	1086	38	1	167	1	FAM78B	1	166039642	Missense_Mutation	SNP	G	TCGA-G9-6363-01A-21D-1786-08	100737777	166039642	83210979	4	6495											
FMO1	2326	broad.mit.edu	37	chr1	171250000	171250000	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctacccatgggacatggtgTtcatgacacgctttcagaac	10	10	10	11	1	2	2	2	1	0	1	2	3	2	3	1	2	2	3	1	2	2	3	rs148980563	byFrequency	TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr1:171250000T>C	ENST00000354841.4	+	5	834	c.703T>C	c.(703-705)Ttc>Ctc	p.F235L	FMO1_ENST00000367750.3_Missense_Mutation_p.F235L|FMO1_ENST00000402921.2_Missense_Mutation_p.F172L|FMO1_ENST00000469112.1_3'UTR			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	235					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	p.F235L(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GGACATGGTGTTCATGACACG	0.493													18	61					0	0	0.00499	0	0	C	171250000	T	C	171250000	3	2	132	1	0	0	0	0	1	0	0	0	5987	1725	60	3	721	3	FMO1	1	171250000	Missense_Mutation	SNP	T	TCGA-G9-6363-01A-21D-1786-08	5210358	171250000	78000621	5	6496											
FCAMR	83953	broad.mit.edu	37	chr1	207133044	207133044	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggtcctccttctccagagcTtcctttgcaatagaaccaga	10	11	7	13	0	1	3	0	0	1	3	5	3	4	3	5	1	3	2	5	1	3	4			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr1:207133044T>C	ENST00000324852.4	-	7	2027	c.1553A>G	c.(1552-1554)aAg>aGg	p.K518R	FCAMR_ENST00000400962.3_Missense_Mutation_p.S251G|FCAMR_ENST00000486178.1_5'UTR|FCAMR_ENST00000450945.2_Missense_Mutation_p.S251G	NM_001170631.1	NP_001164102.1	Q8WWV6	FCAMR_HUMAN	Fc receptor, IgA, IgM, high affinity	473						integral to membrane|plasma membrane	receptor activity	p.S251G(1)		endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						TCTCCAGAGCTTCCTTTGCAA	0.527													37	151					0	0	0.005524	0	0	C	207133044	T	C	207133044	3	2	132	1	0	0	0	0	1	0	0	0	5805	1609	56	3	188	3	FCAMR	1	207133044	Missense_Mutation	SNP	T	TCGA-G9-6363-01A-21D-1786-08	35883044	207133044	42117577	6	6497											
JMJD4	65094	broad.mit.edu	37	chr1	227920349	227920349	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtggtaaaactcttcaaagTtgatgcccgagcaggacctc	12	9	10	10	1	2	1	1	1	1	0	3	3	2	2	2	2	3	3	2	2	3	3			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr1:227920349T>G	ENST00000366758.3	-	6	1135	c.1136A>C	c.(1135-1137)aAc>aCc	p.N379T	SNAP47_ENST00000480897.1_3'UTR|JMJD4_ENST00000438896.2_Missense_Mutation_p.N363T|SNAP47_ENST00000366760.1_Intron|JMJD4_ENST00000485807.1_5'UTR	NM_023007.2	NP_075383.2	Q9H9V9	JMJD4_HUMAN	jumonji domain containing 4	379								p.N379T(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	9		Prostate(94;0.0885)				CTCTTCAAAGTTGATGCCCGA	0.572													8	36					0	0	0.00308	0	0	G	227920349	T	G	227920349	3	3	132	1	0	0	0	0	1	0	0	0	7995	1725	60	5	259	5	JMJD4	1	227920349	Missense_Mutation	SNP	T	TCGA-G9-6363-01A-21D-1786-08	20787305	227920349	21330272	7	6498											
AHCTF1	25909	broad.mit.edu	37	chr1	247014376	247014376	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacttttggtcactagttacGgcagatggcaaatttgcaat	11	13	10	7	1	1	1	1	0	0	1	1	2	1	1	0	3	2	4	0	3	4	5			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr1:247014376G>C	ENST00000366508.1	-	33	5173	c.5037C>G	c.(5035-5037)gcC>gcG	p.A1679A	AHCTF1_ENST00000326225.3_Silent_p.A1653A|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000391829.2_Silent_p.A1644A			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1644	Mediates transcriptional activity (By similarity).|Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	p.A1644A(1)|p.A1653A(1)		NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CACTAGTTACGGCAGATGGCA	0.363													7	164					0	0	0.001984	0	0	C	247014376	G	C	247014376	2	2	132	1	0	0	0	0	0	0	0	1	405	1103	39	4		4	AHCTF1	1	247014376	Silent	SNP	G	TCGA-G9-6363-01A-21D-1786-08	19094027	247014376	2236245	8	6499											
CCDC93	54520	broad.mit.edu	37	chr2	118715997	118715997	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttcaaggaaatgactttccGgcgatgtagctgggaggttc	9	11	14	7	2	1	1	1	1	0	0	3	4	2	3	1	4	1	4	1	4	3	4			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr2:118715997G>C	ENST00000376300.2	-	12	1086	c.949C>G	c.(949-951)Cgg>Ggg	p.R317G	CCDC93_ENST00000460781.1_5'UTR|CCDC93_ENST00000319432.5_Missense_Mutation_p.R316G	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	317								p.R317G(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						ATGACTTTCCGGCGATGTAGC	0.398													14	42					0	0	0.00245	0	0	C	118715997	G	C	118715997	3	2	132	1	0	0	0	0	1	0	0	0	2892	1115	39	4	998	4	CCDC93	2	118715997	Missense_Mutation	SNP	G	TCGA-G9-6363-01A-21D-1786-08		118715997	124483376	9	6500											
TTN	7273	broad.mit.edu	37	chr2	179537132	179537132	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccaggatctttccaaaaatAcctttagctgggggaacagc	12	10	9	10	0	1	0	0	0	1	0	3	2	3	2	3	3	4	1	3	3	5	4			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr2:179537132A>G	ENST00000589042.1	-	154	35155		c.e154+1		TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Splice_Site|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Splice_Site|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin								ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.?(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCCAAAAATACCTTTAGCTG	0.328													10	264					0	0	0.006214	0	0	G	179537132	A	G	179537132	5	3	132	1	0	0	0	0	0	0	1	0	16797	405	14	3	69612	3	TTN	2	179537132	Splice_Site	SNP	A	TCGA-G9-6363-01A-21D-1786-08	60821135	179537132	63662241	10	6501											
ANKRD28	23243	broad.mit.edu	37	chr3	15727591	15727591	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaatgagtaaacacagtctGtgtgcccgttgagaacagat	13	9	11	8	1	1	3	0	2	1	2	1	4	1	3	1	0	3	3	1	0	4	2			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr3:15727591G>C	ENST00000399451.2	-	20	2364	c.1997C>G	c.(1996-1998)aCa>aGa	p.T666R	ANKRD28_ENST00000383777.1_Missense_Mutation_p.T699R|ANKRD28_ENST00000497037.1_5'UTR	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	666						nucleoplasm	protein binding	p.T133R(1)|p.T699R(1)		breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						AACACAGTCTGTGTGCCCGTT	0.458													4	22					0	0	0.000248	0	0	C	15727591	G	C	15727591	3	2	132	1	0	0	0	0	1	0	0	0	652	1377	48	4	1200	4	ANKRD28	3	15727591	Missense_Mutation	SNP	G	TCGA-G9-6363-01A-21D-1786-08		15727591	182294839	11	6502											
OR5H14	403273	broad.mit.edu	37	chr3	97868429	97868429	+	Frame_Shift_Del	DEL	C	C	-																															cttactccttgggaatttagCttttgtggatgctttgttat																										TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr3:97868429delC	ENST00000437310.1	+	1	260	c.200delC	c.(199-201)gtfs	p.A67fs		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						GGGAATTTAGCTTTTGTGGAT	0.398													10	296	---	---	---	---						-	97868429	C	-	97868429	7	5	132	1	0	1	0	1	0	0	0	0	11207	797	28	0	202	0	OR5H14	3	97868429	Frame_Shift_Del	DEL	C	TCGA-G9-6363-01A-21D-1786-08	82140838	97868429	100154001	12	6503											
PARP14	54625	broad.mit.edu	37	chr3	122418827	122418827	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaatgatcatttctccaGgcaggtattttcttttgtgt	11	17	7	6	0	3	1	1	1	2	0	4	1	3	1	1	2	0	2	1	2	4	6			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr3:122418827G>A	ENST00000474629.2	+	6	1692	c.1426G>A	c.(1426-1428)Ggc>Agc	p.G476S		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	476					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity	p.G313S(1)|p.G476S(1)		NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		CATTTCTCCAGGCAGGTATTT	0.398													10	58					0	0	0.006214	0	0	A	122418827	G	A	122418827	3	1	132	1	0	0	0	0	1	0	0	0	11505	1000	35	2	1448	2	PARP14	3	122418827	Missense_Mutation	SNP	G	TCGA-G9-6363-01A-21D-1786-08	24550398	122418827	75603603	13	6504											
TBCK	93627	broad.mit.edu	37	chr4	107216263	107216263	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacagtacctcacaggtttcCtttctcgaagcaagtcttcc	9	13	6	13	1	3	0	1	0	2	0	6	1	5	0	3	1	3	3	3	1	4	5			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr4:107216263C>G	ENST00000273980.4	-	4	701	c.254G>C	c.(253-255)aGg>aCg	p.R85T	TBCK_ENST00000394706.3_Missense_Mutation_p.R85T|TBCK_ENST00000394708.2_Missense_Mutation_p.R85T|TBCK_ENST00000361687.4_Missense_Mutation_p.R85T|TBCK_ENST00000432496.2_Missense_Mutation_p.R85T			Q8TEA7	TBCK_HUMAN	TBC1 domain containing kinase	85	Protein kinase.					intracellular	Rab GTPase activator activity	p.R85T(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						CACAGGTTTCCTTTCTCGAAG	0.378													36	137					0	0	0.00874	0	0	G	107216263	C	G	107216263	3	3	132	1	0	0	0	0	1	0	0	0	15696	681	24	4	2523	4	TBCK	4	107216263	Missense_Mutation	SNP	C	TCGA-G9-6363-01A-21D-1786-08		107216263	83938013	14	6505											
WWC2	80014	broad.mit.edu	37	chr4	184182184	184182184	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccctcagttccaccgaactcTattacagcagtcaaagtgat	12	10	6	13	1	3	1	2	1	1	0	4	2	4	1	3	0	3	2	3	0	4	3			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr4:184182184T>C	ENST00000403733.3	+	11	1607	c.1408T>C	c.(1408-1410)Tat>Cat	p.Y470H	WWC2_ENST00000513834.1_Missense_Mutation_p.Y470H|WWC2_ENST00000504005.1_Missense_Mutation_p.Y152H|WWC2_ENST00000448232.2_Missense_Mutation_p.Y470H|WWC2_ENST00000378925.3_Missense_Mutation_p.Y372H	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	470	Ser-rich.							p.Y470H(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		CACCGAACTCTATTACAGCAG	0.502													3	55					0	0	0.004672	0	0	C	184182184	T	C	184182184	3	2	132	1	0	0	0	0	1	0	0	0	17472	1522	53	3	1450	3	WWC2	4	184182184	Missense_Mutation	SNP	T	TCGA-G9-6363-01A-21D-1786-08	76965921	184182184	6972092	15	6506											
RBM27	54439	broad.mit.edu	37	chr5	145641192	145641192	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgattcattcgagtcttgtgGcatagggaaaataatgagca	13	11	11	6	2	2	1	1	1	1	0	3	4	2	2	0	2	1	2	0	2	4	5			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr5:145641192G>A	ENST00000265271.5	+	13	2179	c.2013G>A	c.(2011-2013)tgG>tgA	p.W671*	RBM27_ENST00000506502.1_Nonsense_Mutation_p.W616*	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	671	RRM.				mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	p.W671*(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGTCTTGTGGCATAGGGAAA	0.478													5	158					0	0	0.000602	0	0	A	145641192	G	A	145641192	4	1	132	1	0	0	0	0	0	1	0	0	13179	1212	42	2	2063	2	RBM27	5	145641192	Nonsense_Mutation	SNP	G	TCGA-G9-6363-01A-21D-1786-08		145641192	35274068	16	6507											
EXOC2	55770	broad.mit.edu	37	chr6	497413	497413	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgaaacacactgcatcagtCgactgagctcttcagaaact	14	9	7	11	1	3	3	2	2	1	1	4	4	3	3	0	0	4	2	0	0	2	1			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr6:497413C>T	ENST00000230449.4	-	25	2648	c.2513G>A	c.(2512-2514)cGa>cAa	p.R838Q	EXOC2_ENST00000448181.3_Missense_Mutation_p.R433Q	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	838					exocytosis|protein transport			p.R838Q(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		CTGCATCAGTCGACTGAGCTC	0.388													22	90					0	0	0.00278	0	0	T	497413	C	T	497413	3	4	132	1	0	0	0	0	1	0	0	0	5329	884	31	1	277	1	EXOC2	6	497413	Missense_Mutation	SNP	C	TCGA-G9-6363-01A-21D-1786-08		497413	170617654	17	6508											
HIST1H3G	8355	broad.mit.edu	37	chr6	26271452	26271452	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctcagtcgacttctgatagCggcgaatctcgcgcagagcc	8	8	12	13	5	3	2	1	1	2	1	5	4	3	2	1	1	2	2	1	1	2	2			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr6:26271452C>T	ENST00000305910.3	-	1	160	c.161G>A	c.(160-162)cGc>cAc	p.R54H		NM_003534.2	NP_003525.1	P68431	H31_HUMAN	histone cluster 1, H3g	54					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	p.R54H(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						CTTCTGATAGCGGCGAATCTC	0.607													7	105					0	0	0.001984	0	0	T	26271452	C	T	26271452	3	4	132	1	0	0	0	0	1	0	0	0	7202	768	27	1	253	1	HIST1H3G	6	26271452	Missense_Mutation	SNP	C	TCGA-G9-6363-01A-21D-1786-08	25774039	26271452	144843615	18	6509											
BAI3	577	broad.mit.edu	37	chr6	69758171	69758171	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atggttgactgggcaagaaaCtcagaagatagggtagtaat	15	9	13	4	0	1	4	1	1	0	3	1	4	1	4	0	3	1	4	0	3	6	4			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr6:69758171C>T	ENST00000370598.1	+	14	3023	c.2202C>T	c.(2200-2202)aaC>aaT	p.N734N		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	734					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.N734N(2)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GGGCAAGAAACTCAGAAGATA	0.383													9	52					0	0	0.006214	0	0	T	69758171	C	T	69758171	2	4	132	1	0	0	0	0	0	0	0	1	1298	564	20	2		2	BAI3	6	69758171	Silent	SNP	C	TCGA-G9-6363-01A-21D-1786-08	43486719	69758171	101356896	19	6510											
PPIL4	85313	broad.mit.edu	37	chr6	149826610	149826610	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catctatacttagatttttcTttatctttggacttctttgg	7	22	5	7	0	4	1	0	0	4	1	4	2	4	2	0	2	1	0	0	2	4	10			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr6:149826610T>C	ENST00000340881.2	-	3	889	c.356A>G	c.(355-357)aAg>aGg	p.K119R	PPIL4_ENST00000253329.2_Silent_p.K486K			Q8WUA2	PPIL4_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 4	483	PPIase cyclophilin-type.				protein folding	nucleus	nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding	p.K486K(1)		endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)		TAGATTTTTCTTTATCTTTGG	0.338													14	95					0	0	0.001855	0	0	C	149826610	T	C	149826610	3	2	132	1	0	0	0	0	1	0	0	0	12378	1606	56	3	24	3	PPIL4	6	149826610	Missense_Mutation	SNP	T	TCGA-G9-6363-01A-21D-1786-08	80068439	149826610	21288457	20	6511											
ABCB1	5243	broad.mit.edu	37	chr7	87179322	87179322	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccacaccaatgatttcccGtagaaaccttacatttatgg	13	11	5	12	1	0	2	0	1	0	1	1	2	1	2	4	1	2	1	4	1	5	5			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr7:87179322G>A	ENST00000265724.3	-	14	1816	c.1399C>T	c.(1399-1401)Cgg>Tgg	p.R467W	ABCB1_ENST00000543898.1_Missense_Mutation_p.R403W	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	467	ABC transporter 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	p.R467W(4)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	ATGATTTCCCGTAGAAACCTT	0.408													9	121					0	0	0.004482	0	0	A	87179322	G	A	87179322	3	1	132	1	0	0	0	0	1	0	0	0	40	1144	40	1	2507	1	ABCB1	7	87179322	Missense_Mutation	SNP	G	TCGA-G9-6363-01A-21D-1786-08		87179322	71959341	21	6512											
CLDN12	9069	broad.mit.edu	37	chr7	90042673	90042673	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acagccctattcagcacgctCtcgcctctctgccattgaaa	9	10	6	16	2	3	1	1	1	2	0	5	1	3	1	3	0	3	2	3	0	2	3			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr7:90042673C>T	ENST00000535571.1	+	2	992	c.683C>T	c.(682-684)tCt>tTt	p.S228F	CLDN12_ENST00000287916.4_Missense_Mutation_p.S228F|CLDN12_ENST00000394605.2_Missense_Mutation_p.S228F	NM_001185072.2	NP_001172001.1	P56749	CLD12_HUMAN	claudin 12	228					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	p.S228F(1)		breast(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)	15						TCAGCACGCTCTCGCCTCTCT	0.423													40	145					0	0	0.006999	0	0	T	90042673	C	T	90042673	3	4	132	1	0	0	0	0	1	0	0	0	3497	913	32	2	685	2	CLDN12	7	90042673	Missense_Mutation	SNP	C	TCGA-G9-6363-01A-21D-1786-08	2863351	90042673	69095990	22	6513											
MTUS1	57509	broad.mit.edu	37	chr8	17613213	17613215	+	In_Frame_Del	DEL	GGT	GGT	-																															tggctgaagagttttgtgtaGgtggtgatttcgggttgtat																										TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr8:17613213_17613215delGGT	ENST00000381869.3	-	2	575_577	c.102_104delACC	c.(100-105)cct>cc	p.PP34del	MTUS1_ENST00000381862.3_In_Frame_Del_p.PP34del|MTUS1_ENST00000519263.1_In_Frame_Del_p.PP34del|MTUS1_ENST00000262102.6_In_Frame_Del_p.PP34del	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	34						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		GTTTTGTGTAGGTGGTGATTTCG	0.399													10	158	---	---	---	---						-	17613215	GGT	-	17613213	7	5	132	1	0	1	0	1	0	0	0	0	10013	1000	35	0	4083	0	MTUS1	8	17613213	In_Frame_Del	DEL	GGT	TCGA-G9-6363-01A-21D-1786-08		17613213	128750809	23	6514											
DMRT2	10655	broad.mit.edu	37	chr9	1051731	1051731	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgccccccgggcccagcccgCcgccggcggacggggactgc	3	1	16	21	7	0	0	0	0	0	0	0	2	0	2	7	5	2	0	7	5	0	0			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr9:1051731C>T	ENST00000259622.6	+	1	118	c.118C>T	c.(118-120)Ccg>Tcg	p.P40S	DMRT2_ENST00000412350.2_Missense_Mutation_p.P40S|DMRT2_ENST00000382251.3_Missense_Mutation_p.P40S|DMRT2_ENST00000358146.2_Missense_Mutation_p.P40S|DMRT2_ENST00000382255.3_Missense_Mutation_p.P40S|DMRT2_ENST00000302441.6_Missense_Mutation_p.P40S			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	40					male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	p.P40S(2)		large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		gcccagcccgccgccggcgga	0.746													3	7					0	0	0.004672	0	0	T	1051731	C	T	1051731	3	4	132	1	0	0	0	0	1	0	0	0	4614	739	26	2	120	2	DMRT2	9	1051731	Missense_Mutation	SNP	C	TCGA-G9-6363-01A-21D-1786-08		1051731	140161700	24	6515											
KLF4	9314	broad.mit.edu	37	chr9	110249346	110249346	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtgccttgagatgggaactCtttgtgtaggttttgccgca	6	15	13	7	1	1	1	0	1	1	1	1	3	1	2	2	2	3	3	2	2	2	5			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr9:110249346C>G	ENST00000374672.4	-	4	1700	c.1227G>C	c.(1225-1227)aaG>aaC	p.K409N		NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	443	Pro-rich.				fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.K409N(1)|p.K400N(1)		breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						GATGGGAACTCTTTGTGTAGG	0.592													12	192					0	0	0.001855	0	0	G	110249346	C	G	110249346	3	3	132	1	0	0	0	0	1	0	0	0	8391	912	32	4	220	4	KLF4	9	110249346	Missense_Mutation	SNP	C	TCGA-G9-6363-01A-21D-1786-08	109197615	110249346	30964085	25	6516											
AGPAT2	10555	broad.mit.edu	37	chr9	139581703	139581703	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcggacaccgtgaagcacAgcgcgcagtacagggcgacc	10	2	15	14	6	0	1	0	1	0	0	0	3	0	2	2	3	3	3	2	3	2	1			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr9:139581703A>T	ENST00000371696.2	-	1	172	c.107T>A	c.(106-108)cTg>cAg	p.L36Q	AGPAT2_ENST00000538402.1_Missense_Mutation_p.L36Q|AGPAT2_ENST00000371694.3_Missense_Mutation_p.L36Q	NM_006412.3	NP_006403.2	O15120	PLCB_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 2	36					phosphatidic acid biosynthetic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	p.L36Q(1)		endometrium(1)|large_intestine(1)|lung(2)|prostate(2)	6	all_cancers(76;0.0893)|all_epithelial(76;0.231)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		CGTGAAGCACAGCGCGCAGTA	0.726													5	34					0	0	0.001168	0	0	T	139581703	A	T	139581703	3	4	132	1	0	0	0	0	1	0	0	0	384	188	7	5	753	5	AGPAT2	9	139581703	Missense_Mutation	SNP	A	TCGA-G9-6363-01A-21D-1786-08	29332357	139581703	1631728	26	6517											
ZNF33A	7581	broad.mit.edu	37	chr10	38345420	38345420	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaatttccagccacaagtcAgcctccataatgcctcagag	13	8	7	13	0	2	1	2	0	0	1	4	2	4	1	5	0	3	0	5	0	3	2			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr10:38345420A>T	ENST00000374618.3	+	5	2546	c.2368A>T	c.(2368-2370)Agc>Tgc	p.S790C	ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000458705.2_Missense_Mutation_p.S789C|ZNF33A_ENST00000307441.9_Missense_Mutation_p.S789C|ZNF33A_ENST00000432900.2_Missense_Mutation_p.S796C	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN	zinc finger protein 33A	789						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S789C(1)		cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						GCCACAAGTCAGCCTCCATAA	0.378													16	59					0	0	0.003163	0	0	T	38345420	A	T	38345420	3	4	132	1	0	0	0	0	1	0	0	0	17911	188	7	5	2382	5	ZNF33A	10	38345420	Missense_Mutation	SNP	A	TCGA-G9-6363-01A-21D-1786-08		38345420	97189327	27	6518											
NANOS1	340719	broad.mit.edu	37	chr10	120789635	120789637	+	In_Frame_Del	DEL	GAC	GAC	-																															ggccgcccgactacgacgagGacgacgacgacgacagcgac																										TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr10:120789635_120789637delGAC	ENST00000425699.1	+	1	408_410	c.322_324delGAC	c.(322-324)del	p.D112del		NM_199461.2	NP_955631.1	Q8WY41	NANO1_HUMAN	nanos homolog 1 (Drosophila)	112					epithelial cell migration	perinuclear region of cytoplasm	protein binding|RNA binding|translation repressor activity|zinc ion binding			lung(1)	1		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0193)		ctacgacgaggacgacgacgacg	0.788													2	4	---	---	---	---						-	120789637	GAC	-	120789635	7	5	132	1	0	1	0	1	0	0	0	0	10199	1174	41	0	324	0	NANOS1	10	120789635	In_Frame_Del	DEL	GAC	TCGA-G9-6363-01A-21D-1786-08	82444215	120789635	14745112	28	6519											
STK32C	282974	broad.mit.edu	37	chr10	134145147	134145147	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagcgaggaccgctccaaaGgtggtgcctcagcagcaatt	10	6	13	12	2	1	0	1	0	0	0	2	2	2	1	3	3	4	4	3	3	2	1			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr10:134145147G>A	ENST00000368625.4	-	1	179	c.94C>T	c.(94-96)Ctt>Ttt	p.L32F				Q86UX6	ST32C_HUMAN	serine/threonine kinase 32C	0							ATP binding|metal ion binding|protein serine/threonine kinase activity	p.L32F(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)		CCGCTCCAAAGGTGGTGCCTC	0.682													21	41					0	0	0.002299	0	0	A	134145147	G	A	134145147	3	1	132	1	0	0	0	0	1	0	0	0	15355	1015	35	2		2	STK32C	10	134145147	Missense_Mutation	SNP	G	TCGA-G9-6363-01A-21D-1786-08	13355512	134145147	1389600	29	6520											
SYTL2	54843	broad.mit.edu	37	chr11	85459457	85459457	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcatccttaattttttcAggcaaatgtctacaaaagga	13	14	7	7	0	3	0	2	0	1	0	4	1	4	1	1	3	1	1	1	3	5	5			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr11:85459457A>T	ENST00000316356.4	-	3	675	c.111T>A	c.(109-111)ccT>ccA	p.P37P	SYTL2_ENST00000527523.1_5'UTR|SYTL2_ENST00000524452.1_Silent_p.P37P|SYTL2_ENST00000528231.1_Silent_p.P37P|SYTL2_ENST00000389960.4_Silent_p.P37P			Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	37	RabBD.				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	p.P37P(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TAATTTTTTCAGGCAAATGTC	0.393													5	78					0	0	0.000602	0	0	T	85459457	A	T	85459457	2	4	132	1	0	0	0	0	0	0	0	1	15540	175	7	5		5	SYTL2	11	85459457	Silent	SNP	A	TCGA-G9-6363-01A-21D-1786-08		85459457	49547059	30	6521											
CEP290	80184	broad.mit.edu	37	chr12	88514920	88514920	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactgaattttcatatgagTctgttgagaaagggttgaag	12	14	12	3	0	2	5	1	5	1	1	2	6	2	5	0	1	0	2	0	1	4	5			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr12:88514920T>C	ENST00000552810.1	-	14	1556	c.1213A>G	c.(1213-1215)Act>Gct	p.T405A	CEP290_ENST00000309041.7_Missense_Mutation_p.T405A|CEP290_ENST00000397838.3_5'UTR	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	405					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding	p.T405A(2)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TTCATATGAGTCTGTTGAGAA	0.383													3	43					0	0	0.004672	0	0	C	88514920	T	C	88514920	3	2	132	1	0	0	0	0	1	0	0	0	3275	1667	58	3	6390	3	CEP290	12	88514920	Missense_Mutation	SNP	T	TCGA-G9-6363-01A-21D-1786-08		88514920	45336975	31	6522											
ACACB	32	broad.mit.edu	37	chr12	109639448	109639448	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagcgtccaggtgccgtgcTggaagcaggctgcgtggtgg	6	7	18	10	3	0	0	0	0	0	0	1	1	1	1	2	5	5	3	2	5	2	0			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr12:109639448T>A	ENST00000338432.7	+	19	2974	c.2855T>A	c.(2854-2856)cTg>cAg	p.L952Q	ACACB_ENST00000377848.3_Missense_Mutation_p.L952Q|ACACB_ENST00000377854.5_Missense_Mutation_p.L952Q			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	952	Biotinyl-binding.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	p.L952Q(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GGTGCCGTGCTGGAAGCAGGC	0.552													7	79					0	0	0.00308	0	0	A	109639448	T	A	109639448	3	1	132	1	0	0	0	0	1	0	0	0	107	1580	55	5	2925	5	ACACB	12	109639448	Missense_Mutation	SNP	T	TCGA-G9-6363-01A-21D-1786-08	21124528	109639448	24212447	32	6523											
TBX5	6910	broad.mit.edu	37	chr12	114793645	114793645	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtagggtagcctgtccatggGctgcacggtggtgacggtgc	5	9	18	9	2	0	1	0	1	0	0	1	1	1	1	2	5	3	4	2	5	2	2			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr12:114793645G>A	ENST00000310346.4	-	9	1915	c.1249C>T	c.(1249-1251)Ccc>Tcc	p.P417S	TBX5_ENST00000349716.5_Missense_Mutation_p.P367S|TBX5_ENST00000405440.2_Missense_Mutation_p.P417S	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	417					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.P417S(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		CTGTCCATGGGCTGCACGGTG	0.657													11	46					0	0	0.000978	0	0	A	114793645	G	A	114793645	3	1	132	1	0	0	0	0	1	0	0	0	15721	1203	42	2	311	2	TBX5	12	114793645	Missense_Mutation	SNP	G	TCGA-G9-6363-01A-21D-1786-08	5154197	114793645	19058250	33	6524											
TMEM132D	121256	broad.mit.edu	37	chr12	129563125	129563125	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccactgcagtggcaaagAtggccctgttgcttcctggg	7	9	14	11	0	0	1	0	0	0	1	1	2	1	1	3	3	3	4	3	3	1	2			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr12:129563125A>G	ENST00000422113.2	-	8	2395	c.2069T>C	c.(2068-2070)aTc>aCc	p.I690T	TMEM132D_ENST00000389441.4_Missense_Mutation_p.I228T	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	690						integral to membrane		p.I690T(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		AGTGGCAAAGATGGCCCTGTT	0.577													5	109					0	0	0.001168	0	0	G	129563125	A	G	129563125	3	3	132	1	0	0	0	0	1	0	0	0	16107	333	12	3	1238	3	TMEM132D	12	129563125	Missense_Mutation	SNP	A	TCGA-G9-6363-01A-21D-1786-08	14769480	129563125	4288770	34	6525											
ENOX1	55068	broad.mit.edu	37	chr13	43872565	43872565	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgttcggaaaagctgttCtttttcttgtttcagcagct	6	19	8	8	1	4	0	1	0	3	0	5	1	4	1	0	1	3	6	0	1	2	7			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr13:43872565C>A	ENST00000261488.6	-	12	1940	c.1363G>T	c.(1363-1365)Gaa>Taa	p.E455*	ENOX1_ENST00000412891.1_Nonsense_Mutation_p.E455*	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	455					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity	p.E455*(2)		breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		AAAAGCTGTTCTTTTTCTTGT	0.527													38	103					1.03484e-13	1.79972e-13	0.005524	1	0	A	43872565	C	A	43872565	4	1	132	1	0	0	0	0	0	1	0	0	5154	922	32	4	592	4	ENOX1	13	43872565	Nonsense_Mutation	SNP	C	TCGA-G9-6363-01A-21D-1786-08		43872565	71297313	35	6526											
COMMD4	54939	broad.mit.edu	37	chr15	75631620	75631620	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagagcacgcggccagccTgtgccgctgttatgaggaga	8	6	14	13	3	0	3	0	1	0	2	0	4	0	3	4	2	3	3	4	2	1	1			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr15:75631620T>C	ENST00000267935.8	+	6	516	c.317T>C	c.(316-318)cTg>cCg	p.L106P	COMMD4_ENST00000567195.1_Intron|COMMD4_ENST00000564815.1_Missense_Mutation_p.L84P|COMMD4_ENST00000562789.1_Missense_Mutation_p.L112P|COMMD4_ENST00000338995.6_Missense_Mutation_p.L106P	NM_017828.3	NP_060298.2	Q9H0A8	COMD4_HUMAN	COMM domain containing 4	106						cytoplasm	protein binding	p.L106P(3)		breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	10						GCGGCCAGCCTGTGCCGCTGT	0.622													3	45					0	0	0.004672	0	0	C	75631620	T	C	75631620	3	2	132	1	0	0	0	0	1	0	0	0	3741	1580	55	3	339	3	COMMD4	15	75631620	Missense_Mutation	SNP	T	TCGA-G9-6363-01A-21D-1786-08		75631620	26899772	36	6527											
PRKCB	5579	broad.mit.edu	37	chr16	24104205	24104205	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcccgatcccaaaagtgagaGcaaacagaagaccaaaacca	19	3	7	12	1	0	3	0	1	0	3	2	5	2	3	4	0	3	1	4	0	6	0			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr16:24104205G>A	ENST00000303531.7	+	6	775	c.623G>A	c.(622-624)aGc>aAc	p.S208N	PRKCB_ENST00000482000.1_3'UTR|PRKCB_ENST00000321728.7_Missense_Mutation_p.S208N	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	208	C2.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	p.S208N(3)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	AAAAGTGAGAGCAAACAGAAG	0.443													9	104					0	0	0.008291	0	0	A	24104205	G	A	24104205	3	1	132	1	0	0	0	0	1	0	0	0	12560	971	34	2	645	2	PRKCB	16	24104205	Missense_Mutation	SNP	G	TCGA-G9-6363-01A-21D-1786-08		24104205	66250548	37	6528											
DNAH2	146754	broad.mit.edu	37	chr17	7680786	7680786	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcaatcctgaataagtattCagaagccatcagggggaact	14	9	10	8	0	3	2	3	1	0	1	4	3	4	3	2	2	2	1	2	2	6	3			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr17:7680786C>G	ENST00000572933.1	+	33	6541	c.5081C>G	c.(5080-5082)tCa>tGa	p.S1694*	DNAH2_ENST00000389173.2_Nonsense_Mutation_p.S1694*			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1694	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.S1694*(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AATAAGTATTCAGAAGCCATC	0.507													30	378					0	0	0.002836	0	0	G	7680786	C	G	7680786	4	3	132	1	0	0	0	0	0	1	0	0	4630	838	29	4	5207	4	DNAH2	17	7680786	Nonsense_Mutation	SNP	C	TCGA-G9-6363-01A-21D-1786-08		7680786	73514424	38	6529											
DNAH9	1770	broad.mit.edu	37	chr17	11572560	11572560	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacggctttccccacaaaatGgctctcctcactatcaggta	10	10	6	15	1	3	0	2	0	1	0	5	0	4	0	3	3	0	3	3	3	4	3			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr17:11572560G>A	ENST00000262442.3	+	16	2979	c.2911G>A	c.(2911-2913)Ggc>Agc	p.G971S	DNAH9_ENST00000454412.2_Missense_Mutation_p.G971S	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	971	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.G971S(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCCACAAAATGGCTCTCCTCA	0.542													5	125					0	0	0.00308	0	0	A	11572560	G	A	11572560	3	1	132	1	0	0	0	0	1	0	0	0	4635	1348	47	2	2973	2	DNAH9	17	11572560	Missense_Mutation	SNP	G	TCGA-G9-6363-01A-21D-1786-08	3891774	11572560	69622650	39	6530											
CCDC144A	9720	broad.mit.edu	37	chr17	16594036	16594036	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctcctggagacactggcgtgGacaagagggataggaagaag	13	5	16	7	1	0	3	0	0	0	3	1	7	1	6	1	5	0	0	1	5	4	1			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr17:16594036G>T	ENST00000443444.2	+	1	462	c.322G>T	c.(322-324)Gac>Tac	p.D108Y	CCDC144A_ENST00000340621.5_Missense_Mutation_p.D108Y|CCDC144A_ENST00000456009.1_Missense_Mutation_p.D108Y|CCDC144A_ENST00000399273.1_Missense_Mutation_p.D108Y|CCDC144A_ENST00000436374.1_3'UTR|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.D108Y|CCDC144A_ENST00000360524.8_Missense_Mutation_p.D108Y			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	108								p.D108Y(1)									CACTGGCGTGGACAAGAGGGA	0.657													27	245					1.77063e-15	3.17128e-15	0.005443	1	0	T	16594036	G	T	16594036	3	4	132	1	0	0	0	0	1	0	0	0	2795	1174	41	4	324	4	CCDC144A	17	16594036	Missense_Mutation	SNP	G	TCGA-G9-6363-01A-21D-1786-08	5021476	16594036	64601174	40	6531											
FLII	2314	broad.mit.edu	37	chr17	18151872	18151872	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcagggctcaccttgtacaGcttgggctgcggcggccaga	7	7	15	12	2	1	1	1	0	0	1	1	1	1	1	2	4	4	5	2	4	1	3			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr17:18151872G>C	ENST00000327031.4	-	18	2407	c.2182C>G	c.(2182-2184)Ctg>Gtg	p.L728V	FLII_ENST00000379450.4_Missense_Mutation_p.L642V|FLII_ENST00000579294.1_Missense_Mutation_p.L717V|FLII_ENST00000578558.1_Intron|FLII_ENST00000545457.2_Missense_Mutation_p.L673V	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	728	Interaction with ACTL6A.				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding	p.L728V(1)		central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					ACCTTGTACAGCTTGGGCTGC	0.622											OREG0024225	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	61					0	0	0.001984	0	0	C	18151872	G	C	18151872	3	2	132	1	0	0	0	0	1	0	0	0	5958	962	34	4	1679	4	FLII	17	18151872	Missense_Mutation	SNP	G	TCGA-G9-6363-01A-21D-1786-08	1557836	18151872	63043338	41	6532											
KRT24	192666	broad.mit.edu	37	chr17	38855747	38855747	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcgatctccacctccaggCgtgtcttgatgtccagcaat	7	12	8	14	2	3	1	0	1	3	0	7	2	5	1	4	1	1	1	4	1	1	1			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr17:38855747C>A	ENST00000264651.2	-	6	1366	c.1310G>T	c.(1309-1311)cGc>cTc	p.R437L		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	437	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity	p.R437L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				CACCTCCAGGCGTGTCTTGAT	0.502													30	158					4.74835e-14	8.37945e-14	0.002096	1	0	A	38855747	C	A	38855747	3	1	132	1	0	0	0	0	1	0	0	0	8504	768	27	4	279	4	KRT24	17	38855747	Missense_Mutation	SNP	C	TCGA-G9-6363-01A-21D-1786-08	20703875	38855747	42339463	42	6533											
HEXIM1	10614	broad.mit.edu	37	chr17	43227525	43227526	+	In_Frame_Ins	INS	-	-	GGAGCT																															ggcgacgacgcgcgtgtgcgINSggagctggagctggagctgg																										TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr17:43227525_43227526insGGAGCT	ENST00000332499.2	+	1	2842_2843	c.968_969insGGAGCT	c.(967-969)cga>cGGAGCTga	p.323_324insS*		NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	323	Required for inhibition of ESR1-dependent transcription.				negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GCGCGTGTGCGGGAGCTGGAGC	0.668													17	112	---	---	---	---						GGAGCT	43227526	-	GGAGCT	43227525	7	5	132	1	0	1	1	0	0	0	0	0	7117	1116	39	0	970	0	HEXIM1	17	43227525	In_Frame_Ins	INS	-	TCGA-G9-6363-01A-21D-1786-08	4371778	43227525	37967685	43	6534											
ABCA5	23461	broad.mit.edu	37	chr17	67252297	67252297	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tagccataaagaataaattaCctcctcacaacactggcaac	17	8	4	12	0	1	1	1	0	0	1	2	1	2	1	3	1	4	1	3	1	9	4			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr17:67252297C>T	ENST00000392676.3	-	29	3923		c.e29+1		ABCA5_ENST00000588877.1_Splice_Site|ABCA5_ENST00000392677.2_Splice_Site			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5						cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	p.?(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					GAATAAATTACCTCCTCACAA	0.353													7	134					0	0	0.00308	0	0	T	67252297	C	T	67252297	5	4	132	1	0	0	0	0	0	0	1	0	35	521	18	2	1113	2	ABCA5	17	67252297	Splice_Site	SNP	C	TCGA-G9-6363-01A-21D-1786-08	24024772	67252297	13942913	44	6535											
MAP2K6	5608	broad.mit.edu	37	chr17	67513026	67513026	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatttagactccaaggcttgCatttctattggaaatcaggt	11	14	9	7	0	2	1	1	0	1	1	3	3	3	2	1	3	1	2	1	3	4	6			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr17:67513026C>T	ENST00000590474.1	+	3	401	c.114C>T	c.(112-114)tgC>tgT	p.C38C	MAP2K6_ENST00000589647.1_5'UTR	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6	38					activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.C38C(1)		central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					CCAAGGCTTGCATTTCTATTG	0.363													5	106					0	0	0.000602	0	0	T	67513026	C	T	67513026	2	4	132	1	0	0	0	0	0	0	0	1	9291	718	25	2		2	MAP2K6	17	67513026	Silent	SNP	C	TCGA-G9-6363-01A-21D-1786-08	260729	67513026	13682184	45	6536											
PSG3	5671	broad.mit.edu	37	chr19	43237124	43237124	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accacaggtagcttgcgtccGgagtctcaggatcacaggtt	9	9	12	11	2	2	0	2	0	1	0	4	2	3	2	2	4	2	3	2	4	1	3			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr19:43237124G>A	ENST00000327495.5	-	3	705	c.521C>T	c.(520-522)cCg>cTg	p.P174L	PSG3_ENST00000595140.1_Missense_Mutation_p.P174L	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	174	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region		p.P174L(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GCTTGCGTCCGGAGTCTCAGG	0.522													12	277					0	0	0.001855	0	0	A	43237124	G	A	43237124	3	1	132	1	0	0	0	0	1	0	0	0	12705	1116	39	1	781	1	PSG3	19	43237124	Missense_Mutation	SNP	G	TCGA-G9-6363-01A-21D-1786-08		43237124	15891859	46	6537											
HSPBP1	23640	broad.mit.edu	37	chr19	55789207	55789207	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatggcctcctgcagccacTgacgcctctggagaccaagg	9	6	11	15	1	1	2	0	1	1	1	2	3	2	2	5	3	2	1	5	3	1	0			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr19:55789207T>C	ENST00000255631.5	-	4	528	c.218A>G	c.(217-219)cAg>cGg	p.Q73R	HSPBP1_ENST00000587922.1_Missense_Mutation_p.Q73R|HSPBP1_ENST00000376343.3_Missense_Mutation_p.Q73R|HSPBP1_ENST00000433386.2_Missense_Mutation_p.Q73R	NM_001130106.1|NM_012267.4	NP_001123578.1|NP_036399.3	Q9NZL4	HPBP1_HUMAN	HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1	76					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding		enzyme inhibitor activity|protein binding	p.Q73R(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	8			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CTGCAGCCACTGACGCCTCTG	0.577													7	21					0	0	0.00308	0	0	C	55789207	T	C	55789207	3	2	132	1	0	0	0	0	1	0	0	0	7470	1580	55	3	885	3	HSPBP1	19	55789207	Missense_Mutation	SNP	T	TCGA-G9-6363-01A-21D-1786-08	12552083	55789207	3339776	47	6538											
BAGE2	85319	broad.mit.edu	37	chr21	11058322	11058322	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtgcttacaaaatgcacatCgctgaaaggggtaaaggaga	16	7	12	6	1	0	2	0	1	0	1	1	3	0	2	0	3	3	4	0	3	6	2			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	f9a7117d-d13d-40bb-9c4f-1e0105ba1928	g.chr21:11058322C>T	ENST00000470054.1	-	0	325									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)		AAATGCACATCGCTGAAAGGG	0.383													10	184					0	0	0.008291	0	0	T	11058322	C	T	11058322	1	4	132	0	1	0	0	0	0	0	0	0	1290	898	31	1		1	BAGE2	21	11058322	RNA	SNP	C	TCGA-G9-6363-01A-21D-1786-08		11058322	37071573	48	6539											
KRTAP10-4	386672	broad.mit.edu	37	chr21	45993895	45993895	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcaccagctcctgcacgcCctcgtgctgccagcagtcta	6	8	9	18	2	1	0	0	0	1	0	3	0	2	0	4	0	6	5	4	0	1	1			TCGA-G9-6363-01A-21D-1786-08	TCGA-G9-6363-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78cd4d11-912a-4d29-b702-b04b9ad5528f	d0674198-9352-413f-98ab-cce0fa8b47f6	g.chr21:45993895C>T	ENST00000400374.3	+	1	290	c.260C>T	c.(259-261)cCc>cTc	p.P87L	TSPEAR_ENST00000323084.4_Intron	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	87	36 X 5 AA repeats of C-C-X(3).					keratin filament		p.P87L(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						TCCTGCACGCCCTCGTGCTGC	0.682													16	85					0	0	0.007413	0	0	T	45993895	C	T	45993895	3	4	132	1	0	0	0	0	1	0	0	0	8554	623	22	2	262	2	KRTAP10-4	21	45993895	Missense_Mutation	SNP	C	TCGA-G9-6363-01A-21D-1786-08	34935573	45993895	2136000	49	6540											
KCNC4	3749	broad.mit.edu	37	chr1	110765671	110765671	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaggcctttaatatcgaccGcaacgtgacagagatcctcc	11	9	9	12	3	0	3	0	2	0	1	3	5	2	3	4	1	1	1	4	1	3	3			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr1:110765671G>A	ENST00000369787.3	+	2	791	c.764G>A	c.(763-765)cGc>cAc	p.R255H	KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000413138.3_Missense_Mutation_p.R255H|KCNC4_ENST00000438661.2_Missense_Mutation_p.R255H	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	255					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		AATATCGACCGCAACGTGACA	0.567													4	134					0	0	0.150653	0	0	A	110765671	G	A	110765671	3	1	133	1	0	0	0	0	1	0	0	0	8061	1087	38	1	770	1	KCNC4	1	110765671	Missense_Mutation	SNP	G	TCGA-G9-6364-01A-21D-1786-08		110765671	138484950	1	6541											
TPO	7173	broad.mit.edu	37	chr2	1499889	1499889	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	catggatgccttccaagtcgGcaaattccccgaagactttg	10	10	9	12	2	0	1	0	0	0	1	3	3	2	2	4	2	1	1	4	2	3	3			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr2:1499889G>A	ENST00000345913.4	+	12	2226	c.2135G>A	c.(2134-2136)gGc>gAc	p.G712D	TPO_ENST00000382201.3_Missense_Mutation_p.G655D|TPO_ENST00000497517.2_Intron|TPO_ENST00000349624.3_Missense_Mutation_p.G539D|TPO_ENST00000346956.3_Missense_Mutation_p.G712D|TPO_ENST00000337415.3_Missense_Mutation_p.G712D|TPO_ENST00000329066.4_Missense_Mutation_p.G712D|TPO_ENST00000382198.1_Missense_Mutation_p.G539D	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	712					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	p.G712D(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TTCCAAGTCGGCAAATTCCCC	0.562													3	49					0	0	0.115264	0	0	A	1499889	G	A	1499889	3	1	133	1	0	0	0	0	1	0	0	0	16471	1203	42	2	2177	2	TPO	2	1499889	Missense_Mutation	SNP	G	TCGA-G9-6364-01A-21D-1786-08		1499889	241699484	2	6542											
CAPN13	92291	broad.mit.edu	37	chr2	30987143	30987143	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggcatcctcgaggaagccaTagtgcagatcggaataggat	12	7	14	8	2	0	1	0	0	0	1	3	5	1	4	2	4	2	2	2	4	4	2			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr2:30987143T>C	ENST00000295055.8	-	6	730	c.554A>G	c.(553-555)tAt>tGt	p.Y185C	CAPN13_ENST00000534090.2_Missense_Mutation_p.Y185C|CAPN13_ENST00000465960.2_5'UTR	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	185	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	p.Y185C(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					GAGGAAGCCATAGTGCAGATC	0.577													9	22					0	0	0.361761	0	0	C	30987143	T	C	30987143	3	2	133	1	0	0	0	0	1	0	0	0	2644	1406	49	3	1523	3	CAPN13	2	30987143	Missense_Mutation	SNP	T	TCGA-G9-6364-01A-21D-1786-08	29487254	30987143	212212230	3	6543											
SPTBN1	0	broad.mit.edu	37	chr2	54753666	54753666	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaatgagaacagctctgcGcggctttttgagcggtcccg	8	9	13	11	4	1	2	0	2	1	1	2	4	2	2	1	2	4	2	1	2	2	2			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr2:54753666G>A	ENST00000356805.4	+	2	392	c.111G>A	c.(109-111)gcG>gcA	p.A37A	AC092839.3_ENST00000433475.1_RNA	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	37	Actin-binding.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	p.A37A(1)		NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			ACAGCTCTGCGCGGCTTTTTG	0.532													16	54					0	0	0.520397	0	0	A	54753666	G	A	54753666	2	1	133	1	0	0	0	0	0	0	0	1	15175	1074	38	1		1	SPTBN1	2	54753666	Silent	SNP	G	TCGA-G9-6364-01A-21D-1786-08	23766523	54753666	188445707	4	6544											
DNAH7	56171	broad.mit.edu	37	chr2	196681466	196681467	+	Frame_Shift_Ins	INS	-	-	A																															gttggctaaatcagcaagagINSaaaaaaataggatggaagaa																										TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr2:196681466_196681467insA	ENST00000312428.6	-	51	9746_9747	c.9646_9647insT	c.(9646-9648)tctfs	p.S3216fs		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3216					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATCAGCAAGAGAAAAAAATAGG	0.411													12	95	---	---	---	---						A	196681467	-	A	196681466	7	5	133	1	0	1	1	0	0	0	0	0	4633	942	33	0	2487	0	DNAH7	2	196681466	Frame_Shift_Ins	INS	-	TCGA-G9-6364-01A-21D-1786-08	141927800	196681466	46517907	5	6545											
NGLY1	55768	broad.mit.edu	37	chr3	25778887	25778887	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcagcacagtgtaaaacaaTtggcccactcgccacaccgt	12	6	9	14	2	0	0	0	0	0	0	1	0	0	0	3	2	2	3	3	2	3	2			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr3:25778887T>C	ENST00000428257.1	-	6	1048	c.941A>G	c.(940-942)aAt>aGt	p.N314S	NGLY1_ENST00000280700.5_Missense_Mutation_p.N314S|NGLY1_ENST00000417874.2_Missense_Mutation_p.N272S|NGLY1_ENST00000396649.3_Missense_Mutation_p.N314S|NGLY1_ENST00000422724.2_Missense_Mutation_p.I163V	NM_001145293.1	NP_001138765.1	Q96IV0	NGLY1_HUMAN	N-glycanase 1	314					glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding	p.N314S(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						TGTAAAACAATTGGCCCACTC	0.413													8	61					0	0	0.307466	0	0	C	25778887	T	C	25778887	3	2	133	1	0	0	0	0	1	0	0	0	10445	1493	52	3	1147	3	NGLY1	3	25778887	Missense_Mutation	SNP	T	TCGA-G9-6364-01A-21D-1786-08		25778887	172243543	6	6546											
SLC34A2	10568	broad.mit.edu	37	chr4	25678365	25678365	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaagaccgaatgcacggcCttgtaggggacgccccagat	11	6	12	12	3	1	2	1	0	0	2	1	4	1	3	4	3	1	2	4	3	3	2			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr4:25678365C>T	ENST00000382051.3	+	13	2117	c.2067C>T	c.(2065-2067)gcC>gcT	p.A689A	SLC34A2_ENST00000503434.1_Silent_p.A688A|SLC34A2_ENST00000504570.1_Silent_p.A688A	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	689					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	p.A689A(1)	SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				AATGCACGGCCTTGTAGGGGA	0.562			T	ROS1	NSCLC								12	56					0	0	0.411799	0	0	T	25678365	C	T	25678365	2	4	133	1	0	0	0	0	0	0	0	1	14623	668	24	2		2	SLC34A2	4	25678365	Silent	SNP	C	TCGA-G9-6364-01A-21D-1786-08		25678365	165475911	7	6547											
TMEM184C	55751	broad.mit.edu	37	chr4	148545026	148545026	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtttattgctggaatcttTttgctgttgactattcctat	6	21	8	6	0	1	1	0	1	1	0	2	2	2	2	1	2	2	4	1	2	4	9			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr4:148545026T>G	ENST00000296582.3	+	2	739	c.165T>G	c.(163-165)ttT>ttG	p.F55L	TMEM184C_ENST00000508208.1_Missense_Mutation_p.F55L	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	55						integral to membrane		p.F55L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						CTGGAATCTTTTTGCTGTTGA	0.323													23	66					0	0	0.654019	0	0	G	148545026	T	G	148545026	3	3	133	1	0	0	0	0	1	0	0	0	16166	1838	64	5	171	5	TMEM184C	4	148545026	Missense_Mutation	SNP	T	TCGA-G9-6364-01A-21D-1786-08	122866661	148545026	42609250	8	6548											
DDX60L	91351	broad.mit.edu	37	chr4	169300651	169300651	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gattaccctttttatttaaaTagtcctaaaaatgagaaaca	17	14	4	6	0	0	1	0	1	0	1	1	3	1	1	2	0	2	0	2	0	9	8			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr4:169300651T>C	ENST00000511577.1	-	32	4473	c.4226A>G	c.(4225-4227)tAt>tGt	p.Y1409C	DDX60L_ENST00000260184.7_Missense_Mutation_p.Y1409C			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1409							ATP binding|ATP-dependent helicase activity|RNA binding	p.Y1409C(1)|p.Y1410C(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TTTATTTAAATAGTCCTAAAA	0.303													11	15					0	0	0.38729	0	0	C	169300651	T	C	169300651	3	2	133	1	0	0	0	0	1	0	0	0	4402	1406	49	3	922	3	DDX60L	4	169300651	Missense_Mutation	SNP	T	TCGA-G9-6364-01A-21D-1786-08	20755625	169300651	21853625	9	6549											
GRM4	2914	broad.mit.edu	37	chr6	34004179	34004179	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgggccggcagcccgtgcGgttctctgtgggccgcatgt	3	9	17	12	4	1	0	0	0	1	0	2	1	1	0	3	4	2	3	3	4	0	1			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr6:34004179G>A	ENST00000374181.3	-	8	1877	c.1708C>T	c.(1708-1710)Cgc>Tgc	p.R570C	GRM4_ENST00000374177.3_Missense_Mutation_p.R454C|GRM4_ENST00000538487.1_Missense_Mutation_p.R570C|GRM4_ENST00000545715.1_Missense_Mutation_p.R262C|GRM4_ENST00000455714.2_Missense_Mutation_p.R430C|GRM4_ENST00000544773.1_Missense_Mutation_p.R401C|GRM4_ENST00000535756.1_Missense_Mutation_p.R437C	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	570					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.R570C(2)|p.R454C(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	CAGCCCGTGCGGTTCTCTGTG	0.652													15	38					0	0	0.520397	0	0	A	34004179	G	A	34004179	3	1	133	1	0	0	0	0	1	0	0	0	6840	1116	39	1	1042	1	GRM4	6	34004179	Missense_Mutation	SNP	G	TCGA-G9-6364-01A-21D-1786-08		34004179	137110888	10	6550											
BEND6	221336	broad.mit.edu	37	chr6	56882125	56882125	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccactcacagcctgacagggGcaaaatcctctacttcaagg	12	7	8	14	0	3	1	2	1	1	0	4	1	4	1	3	3	2	1	3	3	4	2			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr6:56882125G>A	ENST00000370746.3	+	5	909	c.640G>A	c.(640-642)Gca>Aca	p.A214T	BEND6_ENST00000484701.1_3'UTR|BEND6_ENST00000545789.1_Missense_Mutation_p.A116T|BEND6_ENST00000370750.2_3'UTR	NM_152731.2	NP_689944.2	Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	214	BEN.							p.A214T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						CCTGACAGGGGCAAAATCCTC	0.388													3	30					0	0	0.115264	0	0	A	56882125	G	A	56882125	3	1	133	1	0	0	0	0	1	0	0	0	1400	1203	42	2	654	2	BEND6	6	56882125	Missense_Mutation	SNP	G	TCGA-G9-6364-01A-21D-1786-08	22877946	56882125	114232942	11	6551											
ZAN	7455	broad.mit.edu	37	chr7	100349724	100349724	+	RNA	DEL	G	G	-																															aagagcccaccacccccactGaggagaccaccacctccatg																										TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr7:100349724delG	ENST00000542585.1	+	0	2144				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CACCCCCACTGAGGAGACCAC	0.537													15	34	---	---	---	---						-	100349724	G	-	100349724	6	5	133	0	1	1	0	1	0	0	0	0	17573	1291	45	0		0	ZAN	7	100349724	RNA	DEL	G	TCGA-G9-6364-01A-21D-1786-08		100349724	58788939	12	6552											
FZD6	8323	broad.mit.edu	37	chr8	104340556	104340556	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taaaatacctgatgacattaAttgttggcatctctgctgtc	11	15	7	8	0	1	2	0	2	1	0	3	2	1	2	1	1	2	3	1	1	4	5			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr8:104340556A>G	ENST00000358755.4	+	5	1770	c.1453A>G	c.(1453-1455)Att>Gtt	p.I485V	FZD6_ENST00000540287.1_Missense_Mutation_p.I180V|FZD6_ENST00000523739.1_Missense_Mutation_p.I453V|FZD6_ENST00000522566.1_Missense_Mutation_p.I485V	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled family receptor 6	485					angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.I485V(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			GATGACATTAATTGTTGGCAT	0.358													14	47					0	0	0.479597	0	0	G	104340556	A	G	104340556	3	3	133	1	0	0	0	0	1	0	0	0	6169	101	4	3	1467	3	FZD6	8	104340556	Missense_Mutation	SNP	A	TCGA-G9-6364-01A-21D-1786-08		104340556	42023466	13	6553											
TLE4	7091	broad.mit.edu	37	chr9	82320809	82320809	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacttgtcaatgcaggacagCgatggtgagaaaagtgatga	14	8	13	6	1	1	3	1	3	0	1	1	6	1	4	0	2	2	1	0	2	3	1			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr9:82320809C>T	ENST00000376520.4	+	10	1563	c.735C>T	c.(733-735)agC>agT	p.S245S	TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376537.4_Silent_p.S245S|TLE4_ENST00000376544.3_Intron|TLE4_ENST00000376552.2_Silent_p.S245S|TLE4_ENST00000265284.6_Silent_p.S220S			O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	0								p.S245S(2)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TGCAGGACAGCGATGGTGAGA	0.398													6	129					0	0	0.248553	0	0	T	82320809	C	T	82320809	2	4	133	1	0	0	0	0	0	0	0	1	16001	767	27	1		1	TLE4	9	82320809	Silent	SNP	C	TCGA-G9-6364-01A-21D-1786-08		82320809	58892622	14	6554											
SLK	9748	broad.mit.edu	37	chr10	105761232	105761232	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttactgttgattccaacaaaCccatccgagaattgattgca	13	12	6	10	1	0	3	0	2	0	1	2	4	2	3	3	0	4	2	3	0	4	5			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr10:105761232C>A	ENST00000369755.3	+	8	1440	c.895C>A	c.(895-897)Ccc>Acc	p.P299T	SLK_ENST00000335753.4_Missense_Mutation_p.P299T	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	299					apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity	p.P299T(1)		kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TTCCAACAAACCCATCCGAGA	0.388													7	32					0.00307968	0.00354163	0.27861	1	0	A	105761232	C	A	105761232	3	1	133	1	0	0	0	0	1	0	0	0	14802	507	18	4	925	4	SLK	10	105761232	Missense_Mutation	SNP	C	TCGA-G9-6364-01A-21D-1786-08		105761232	29773515	15	6555											
KRTAP5-9	3846	broad.mit.edu	37	chr11	71259904	71259904	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgtggctcctgtgggggCtccaagggaggctgtggttc	3	10	19	9	0	0	0	0	0	0	0	3	1	2	1	2	7	0	5	2	7	1	1			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr11:71259904C>T	ENST00000528743.2	+	1	439	c.201C>T	c.(199-201)ggC>ggT	p.G67G		NM_005553.3	NP_005544.4	P26371	KRA59_HUMAN	keratin associated protein 5-9	67	8 X 4 AA repeats of C-C-X-P.				epidermis development	keratin filament		p.G67G(1)		kidney(1)|large_intestine(1)|lung(6)|prostate(3)	11						CCTGTGGGGGCTCCAAGGGAG	0.627													8	159					0	0	0.335167	0	0	T	71259904	C	T	71259904	2	4	133	1	0	0	0	0	0	0	0	1	8607	784	28	2		2	KRTAP5-9	11	71259904	Silent	SNP	C	TCGA-G9-6364-01A-21D-1786-08		71259904	63746612	16	6556											
APLP2	334	broad.mit.edu	37	chr11	129979414	129979414	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaatatgcatgtgaacattCagactgggaaatgggaacct	15	10	10	6	0	1	2	1	1	0	1	1	4	1	4	1	2	3	1	1	2	6	3			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr11:129979414C>A	ENST00000263574.5	+	2	268	c.196C>A	c.(196-198)Cag>Aag	p.Q66K	APLP2_ENST00000345598.5_Missense_Mutation_p.Q66K|APLP2_ENST00000338167.5_Missense_Mutation_p.Q66K|APLP2_ENST00000278756.7_Missense_Mutation_p.Q76K|APLP2_ENST00000528499.1_Missense_Mutation_p.Q66K|APLP2_ENST00000532456.1_3'UTR|APLP2_ENST00000539648.1_Intron|APLP2_ENST00000543137.1_5'UTR	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	66					G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity	p.Q66K(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		TGTGAACATTCAGACTGGGAA	0.458													3	46					0.115264	0.126242	0.115264	1	0	A	129979414	C	A	129979414	3	1	133	1	0	0	0	0	1	0	0	0	776	827	29	4	202	4	APLP2	11	129979414	Missense_Mutation	SNP	C	TCGA-G9-6364-01A-21D-1786-08	58719510	129979414	5027102	17	6557											
BBS10	79738	broad.mit.edu	37	chr12	76740951	76740951	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atttagaataaactctgatcCagaagtggaaaaaagaggct	18	9	9	5	0	1	4	0	1	1	3	2	5	2	5	1	2	1	1	1	2	8	3			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr12:76740951C>T	ENST00000393262.3	-	2	897	c.814G>A	c.(814-816)Gga>Aga	p.G272R		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	272					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding	p.G272R(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						AACTCTGATCCAGAAGTGGAA	0.373									Bardet-Biedl syndrome				12	26					0	0	0.38729	0	0	T	76740951	C	T	76740951	3	4	133	1	0	0	0	0	1	0	0	0	1334	603	21	2	1361	2	BBS10	12	76740951	Missense_Mutation	SNP	C	TCGA-G9-6364-01A-21D-1786-08		76740951	57110944	18	6558											
XPO4	64328	broad.mit.edu	37	chr13	21436893	21436893	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ataggttaaaaggaatgttcGcagagactcgatgctacctt	13	11	10	7	2	0	1	0	0	0	1	2	4	0	2	1	2	2	4	1	2	5	5			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr13:21436893G>T	ENST00000400602.2	-	3	315	c.280C>A	c.(280-282)Cga>Aga	p.R94R	XPO4_ENST00000490513.1_5'UTR|XPO4_ENST00000255305.6_Silent_p.R94R	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN	exportin 4	94					protein transport	cytoplasm|nucleus	protein binding	p.R67R(1)		breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		AGGAATGTTCGCAGAGACTCG	0.433													9	257					2.17888e-05	2.63759e-05	0.335167	1	0	T	21436893	G	T	21436893	2	4	133	1	0	0	0	0	0	0	0	1	17506	1095	38	4		4	XPO4	13	21436893	Silent	SNP	G	TCGA-G9-6364-01A-21D-1786-08		21436893	93732985	19	6559											
RPS6KA5	9252	broad.mit.edu	37	chr14	91360831	91360831	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaacaagcttcctcatgaTgtagctggcttccgtctcac	9	12	8	12	1	2	2	2	2	1	0	5	2	4	2	2	1	3	4	2	1	3	3			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr14:91360831T>G	ENST00000261991.3	-	13	1743	c.1570A>C	c.(1570-1572)Atc>Ctc	p.I524L	RPS6KA5_ENST00000418736.2_Missense_Mutation_p.I524L|RPS6KA5_ENST00000536315.2_Missense_Mutation_p.I445L	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	524	Protein kinase 2.				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.I524L(2)		endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		TTCCTCATGATGTAGCTGGCT	0.448													25	54					0	0	0.667858	0	0	G	91360831	T	G	91360831	3	3	133	1	0	0	0	0	1	0	0	0	13706	1464	51	5	864	5	RPS6KA5	14	91360831	Missense_Mutation	SNP	T	TCGA-G9-6364-01A-21D-1786-08		91360831	15988709	20	6560											
MORF4L1	10933	broad.mit.edu	37	chr15	79177371	79177371	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acatgaggatattgtagcccTttttcctgttcctgaaggag	9	14	10	8	0	0	2	0	2	0	0	2	4	2	4	3	2	1	2	3	2	3	6			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr15:79177371T>C	ENST00000331268.5	+	4	422	c.218T>C	c.(217-219)cTt>cCt	p.L73P	MORF4L1_ENST00000426013.2_Intron|MORF4L1_ENST00000379535.4_Intron|MORF4L1_ENST00000559345.1_Intron|MORF4L1_ENST00000561171.1_Intron|MORF4L1_ENST00000558502.1_Intron|MORF4L1_ENST00000558746.1_Intron	NM_206839.2	NP_996670.1	Q9UBU8	MO4L1_HUMAN	mortality factor 4 like 1	73					double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Sin3 complex	protein N-terminus binding	p.L73P(1)		breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						ATTGTAGCCCTTTTTCCTGTT	0.443													3	93					0	0	0.150653	0	0	C	79177371	T	C	79177371	3	2	133	1	0	0	0	0	1	0	0	0	9755	1609	56	3	232	3	MORF4L1	15	79177371	Missense_Mutation	SNP	T	TCGA-G9-6364-01A-21D-1786-08		79177371	23354021	21	6561											
AP3B2	8120	broad.mit.edu	37	chr15	83346500	83346500	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgatgttagttgcacagcgtCcaatggcctggattgtggct	7	12	13	9	2	0	0	0	0	0	0	1	2	1	1	2	3	2	4	2	3	2	3			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr15:83346500C>A	ENST00000261722.3	-	12	1508	c.1301G>T	c.(1300-1302)gGa>gTa	p.G434V	AP3B2_ENST00000535359.1_Missense_Mutation_p.G434V|AP3B2_ENST00000535348.1_Missense_Mutation_p.G402V|RP11-752G15.3_ENST00000560650.1_RNA	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	434					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity	p.G433V(1)|p.G434V(1)		breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			TGCACAGCGTCCAATGGCCTG	0.537													4	14					0.00024832	0.00029289	0.150653	1	0	A	83346500	C	A	83346500	3	1	133	1	0	0	0	0	1	0	0	0	741	855	30	4	2007	4	AP3B2	15	83346500	Missense_Mutation	SNP	C	TCGA-G9-6364-01A-21D-1786-08	4169129	83346500	19184892	22	6562											
IQGAP1	8826	broad.mit.edu	37	chr15	91027480	91027480	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tccaaactgcttgtgatgtcCcagagcttcaggataaattt	11	13	8	9	0	1	2	1	1	0	1	3	3	3	3	2	1	3	2	2	1	3	4			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr15:91027480C>G	ENST00000268182.5	+	30	3941	c.3817C>G	c.(3817-3819)Cca>Gca	p.P1273A	IQGAP1_ENST00000560738.1_Missense_Mutation_p.P701A	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1273	C1.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity	p.P1273A(1)		breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TTGTGATGTCCCAGAGCTTCA	0.423													33	121					0	0	0.788014	0	0	G	91027480	C	G	91027480	3	3	133	1	0	0	0	0	1	0	0	0	7858	623	22	4	3935	4	IQGAP1	15	91027480	Missense_Mutation	SNP	C	TCGA-G9-6364-01A-21D-1786-08	7680980	91027480	11503912	23	6563											
CD68	968	broad.mit.edu	37	chr17	7483262	7483263	+	Frame_Shift_Del	DEL	CA	CA	-																															agagccacaaaaccaccactCacaggacaaccaccacaggc																								rs143998725		TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr17:7483262_7483263delCA	ENST00000250092.6	+	2	395_396	c.184_185delCA	c.(184-186)cfs	p.H62fs	CD68_ENST00000380498.6_Frame_Shift_Del_p.H35fs	NM_001251.2	NP_001242.2	P34810	CD68_HUMAN	CD68 molecule	62	Mucin-like.					endosome membrane|integral to membrane|lysosomal membrane|membrane fraction|plasma membrane				endometrium(1)|lung(1)|skin(1)	3						Aaccaccactcacaggacaacc	0.564													14	24	---	---	---	---						-	7483263	CA	-	7483262	7	5	133	1	0	1	0	1	0	0	0	0	3052	826	29	0	190	0	CD68	17	7483262	Frame_Shift_Del	DEL	CA	TCGA-G9-6364-01A-21D-1786-08		7483262	73711948	24	6564											
CHAF1A	10036	broad.mit.edu	37	chr19	4442949	4442949	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agccccgtgtggagccgcttCcggagctgggggtggtgtgg	3	8	20	10	3	0	0	0	0	0	0	1	2	1	2	4	6	3	2	4	6	0	1			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr19:4442949C>T	ENST00000301280.5	+	15	2899	c.2798C>T	c.(2797-2799)tCc>tTc	p.S933F		NM_005483.2	NP_005474.2	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	933	Binds to p60.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding	p.S933F(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAGCCGCTTCCGGAGCTGGG	0.672								Chromatin Structure					5	18					0	0	0.27861	0	0	T	4442949	C	T	4442949	3	4	133	1	0	0	0	0	1	0	0	0	3333	855	30	2	2856	2	CHAF1A	19	4442949	Missense_Mutation	SNP	C	TCGA-G9-6364-01A-21D-1786-08		4442949	54686034	25	6565											
C20orf194	25943	broad.mit.edu	37	chr20	3236652	3236652	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgggctctggaaaccacCtgcttagctgactgccgcag	7	9	12	13	1	2	1	0	1	2	0	2	2	2	2	3	2	4	4	3	2	2	1			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr20:3236652C>G	ENST00000252032.9	-	34	3328	c.3261_splice	c.e34+1	p.Q1087_splice	C20orf194_ENST00000453730.2_3'UTR	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	1087								p.Q1087H(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						TGGAAACCACCTGCTTAGCTG	0.597													8	27					0	0	0.27861	0	0	G	3236652	C	G	3236652	5	3	133	1	0	0	0	0	0	0	1	0	2113	695	24	4	288	4	C20orf194	20	3236652	Splice_Site	SNP	C	TCGA-G9-6364-01A-21D-1786-08		3236652	59788868	26	6566											
PTPRT	11122	broad.mit.edu	37	chr20	40735499	40735499	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agatgtccaccaccccttcaTtctcggccatgtcaagcatg	9	10	7	15	1	3	1	2	0	1	1	5	1	4	1	5	1	1	1	5	1	1	2			TCGA-G9-6364-01A-21D-1786-08	TCGA-G9-6364-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a3d716-cd83-4012-91ec-ff5e45784c98	a820bb95-2a8f-46cf-b111-46f108dc789a	g.chr20:40735499T>G	ENST00000373198.3	-	25	3618	c.3383A>C	c.(3382-3384)aAt>aCt	p.N1128T	PTPRT_ENST00000373201.1_Missense_Mutation_p.N1096T|PTPRT_ENST00000356100.2_Missense_Mutation_p.N1115T|PTPRT_ENST00000373187.1_Missense_Mutation_p.N1106T|PTPRT_ENST00000373184.1_Missense_Mutation_p.N1116T|PTPRT_ENST00000373190.1_Missense_Mutation_p.N1105T|PTPRT_ENST00000373193.3_Missense_Mutation_p.N1109T	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1106	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.N1128T(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CACCCCTTCATTCTCGGCCAT	0.562													4	103					0	0	0.184627	0	0	G	40735499	T	G	40735499	3	3	133	1	0	0	0	0	1	0	0	0	12864	1493	52	5	1040	5	PTPRT	20	40735499	Missense_Mutation	SNP	T	TCGA-G9-6364-01A-21D-1786-08	37498847	40735499	22290021	27	6567											
LRP8	7804	broad.mit.edu	37	chr1	53728131	53728131	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctcacccagggtgattccGttgggccattcaatattgtc	7	12	11	11	1	2	1	2	1	0	0	4	1	3	1	3	3	0	2	3	3	2	5			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr1:53728131G>A	ENST00000306052.6	-	11	1862	c.1761C>T	c.(1759-1761)aaC>aaT	p.N587N	LRP8_ENST00000465675.1_Silent_p.N140N|LRP8_ENST00000371454.2_Silent_p.N587N|LRP8_ENST00000354412.3_Silent_p.N458N|LRP8_ENST00000460214.1_5'UTR|LRP8_ENST00000347547.2_Silent_p.N417N	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	587					cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity	p.N587N(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						GGGTGATTCCGTTGGGCCATT	0.537													5	206					0	0	0.001168	0	0	A	53728131	G	A	53728131	2	1	134	1	0	0	0	0	0	0	0	1	9008	1136	40	1		1	LRP8	1	53728131	Silent	SNP	G	TCGA-G9-6365-01A-11D-1786-08		53728131	195522490	1	6568											
PRKAA2	5563	broad.mit.edu	37	chr1	57173364	57173364	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgaaatgtgtgccagtcTgattactactttagcccgtt	8	17	8	8	1	1	2	0	2	1	0	1	2	1	2	2	0	4	1	2	0	4	7			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr1:57173364T>A	ENST00000371244.4	+	9	1703	c.1637T>A	c.(1636-1638)cTg>cAg	p.L546Q		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	546					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding	p.L546Q(3)		breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						TGTGCCAGTCTGATTACTACT	0.388													4	142					0	0	0.000602	0	0	A	57173364	T	A	57173364	3	1	134	1	0	0	0	0	1	0	0	0	12546	1580	55	5	1671	5	PRKAA2	1	57173364	Missense_Mutation	SNP	T	TCGA-G9-6365-01A-11D-1786-08	3445233	57173364	192077257	2	6569											
GSTM5	2949	broad.mit.edu	37	chr1	110257972	110257972	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taactcgtatgtattgagtaCgggcttcatgccaggaatca	11	12	10	8	2	2	1	2	1	0	0	3	2	2	2	1	2	3	4	1	2	5	6			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr1:110257972C>T	ENST00000369813.1	+	5	1459	c.554C>T	c.(553-555)aCg>aTg	p.T185M	GSTM5_ENST00000369812.5_Intron|GSTM5_ENST00000492718.1_3'UTR|GSTM5_ENST00000256593.3_Intron			P46439	GSTM5_HUMAN	glutathione S-transferase mu 5	0	GST C-terminal.				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	gtattgagtacgggcttcatg	0.433													6	6					0	0	0.001168	0	0	T	110257972	C	T	110257972	3	4	134	1	0	0	0	0	1	0	0	0	6882	551	19	1		1	GSTM5	1	110257972	Missense_Mutation	SNP	C	TCGA-G9-6365-01A-11D-1786-08	53084608	110257972	138992649	3	6570											
SPTA1	6708	broad.mit.edu	37	chr1	158637764	158637764	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatctcttggccagttttcTgtatgttttccagctgggtc	4	18	9	10	0	3	0	1	0	2	0	6	0	4	0	2	2	1	4	2	2	1	6			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr1:158637764T>C	ENST00000368148.3	-	15	2102	c.1922A>G	c.(1921-1923)cAg>cGg	p.Q641R	SPTA1_ENST00000368147.3_Missense_Mutation_p.Q641R	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	641					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.Q641R(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCCAGTTTTCTGTATGTTTTC	0.468													12	130					0	0	0.003163	0	0	C	158637764	T	C	158637764	3	2	134	1	0	0	0	0	1	0	0	0	15172	1580	55	3	5489	3	SPTA1	1	158637764	Missense_Mutation	SNP	T	TCGA-G9-6365-01A-11D-1786-08	48379792	158637764	90612857	4	6571											
DUSP27	92235	broad.mit.edu	37	chr1	167095421	167095421	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggaggaggagaaactgtaCgagcagtggaagaaggggca	15	3	19	4	1	0	2	0	0	0	2	0	8	0	5	0	6	3	3	0	6	4	1			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr1:167095421C>T	ENST00000361200.2	+	6	1219	c.1053C>T	c.(1051-1053)taC>taT	p.Y351Y	DUSP27_ENST00000443333.1_Silent_p.Y351Y|DUSP27_ENST00000485151.1_3'UTR|DUSP27_ENST00000271385.5_Silent_p.Y351Y			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	351					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	p.Y351Y(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AGAAACTGTACGAGCAGTGGA	0.662													5	18					0	0	0.001168	0	0	T	167095421	C	T	167095421	2	4	134	1	0	0	0	0	0	0	0	1	4850	547	19	1		1	DUSP27	1	167095421	Silent	SNP	C	TCGA-G9-6365-01A-11D-1786-08	8457657	167095421	82155200	5	6572											
OR2M2	391194	broad.mit.edu	37	chr1	248343988	248343988	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgggatctggagagggtcGttgcaaagctttcacgacct	9	10	13	9	2	2	1	1	0	1	1	3	4	2	2	1	3	2	3	1	3	1	2			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr1:248343988G>A	ENST00000359682.2	+	1	701	c.701G>A	c.(700-702)cGt>cAt	p.R234H		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R234H(2)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GGAGAGGGTCGTTGCAAAGCT	0.468													35	79					0	0	0.004289	0	0	A	248343988	G	A	248343988	3	1	134	1	0	0	0	0	1	0	0	0	11058	1145	40	1	703	1	OR2M2	1	248343988	Missense_Mutation	SNP	G	TCGA-G9-6365-01A-11D-1786-08	81248567	248343988	906633	6	6573											
OR2G6	391211	broad.mit.edu	37	chr1	248685462	248685462	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgcccctctgtggtcatcGcacactggatcatattttct	6	14	8	13	1	4	0	2	0	2	0	5	1	4	1	2	2	1	2	2	2	1	3			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr1:248685462G>A	ENST00000343414.4	+	1	547	c.515G>A	c.(514-516)cGc>cAc	p.R172H		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R172H(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGTGGTCATCGCACACTGGAT	0.552													4	66					0	0	0.000248	0	0	A	248685462	G	A	248685462	3	1	134	1	0	0	0	0	1	0	0	0	11048	1087	38	1	517	1	OR2G6	1	248685462	Missense_Mutation	SNP	G	TCGA-G9-6365-01A-11D-1786-08	341474	248685462	565159	7	6574											
AFF3	3899	broad.mit.edu	37	chr2	100210742	100210742	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgccacttgttagaggatgCcggttcagcctgaaagcaga	10	9	12	10	1	1	3	1	1	0	2	1	4	1	4	3	2	4	3	3	2	2	3			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr2:100210742C>T	ENST00000317233.4	-	14	1616	c.1381G>A	c.(1381-1383)Gca>Aca	p.A461T	AFF3_ENST00000356421.2_Missense_Mutation_p.A486T|AFF3_ENST00000409579.1_Missense_Mutation_p.A486T|AFF3_ENST00000409236.1_Missense_Mutation_p.A461T	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	461					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.A486T(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TTAGAGGATGCCGGTTCAGCC	0.443													4	232					0	0	0.000602	0	0	T	100210742	C	T	100210742	3	4	134	1	0	0	0	0	1	0	0	0	357	739	26	2	2343	2	AFF3	2	100210742	Missense_Mutation	SNP	C	TCGA-G9-6365-01A-11D-1786-08		100210742	142988631	8	6575											
TTN	7273	broad.mit.edu	37	chr2	179432336	179432336	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggtccagtactgtcagaggGtttacttattgcaccagctg	8	13	11	9	0	1	1	1	0	0	1	2	1	2	1	2	2	4	4	2	2	3	5			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr2:179432336G>A	ENST00000589042.1	-	326	78747	c.78523C>T	c.(78523-78525)Ccc>Tcc	p.P26175S	TTN_ENST00000342175.6_Missense_Mutation_p.P17302S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P17110S|TTN_ENST00000342992.6_Missense_Mutation_p.P23607S|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P17235S|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P24534S|TTN-AS1_ENST00000590932.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24534	Fibronectin type-III 90.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P17110S(2)|p.P23605S(1)|p.P17235S(1)|p.P23607S(1)|p.P17302S(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGTCAGAGGGTTTACTTATT	0.388													6	92					0	0	0.001168	0	0	A	179432336	G	A	179432336	3	1	134	1	0	0	0	0	1	0	0	0	16797	1261	44	2	29604	2	TTN	2	179432336	Missense_Mutation	SNP	G	TCGA-G9-6365-01A-11D-1786-08	79221594	179432336	63767037	9	6576											
EOMES	8320	broad.mit.edu	37	chr3	27763406	27763408	+	In_Frame_Del	DEL	GCG	GCG	-																															agcgcgcagtggccgcagccGcggcggcggcggcggcggcg																										TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr3:27763406_27763408delGCG	ENST00000295743.4	-	1	581_583	c.378_380delCGC	c.(376-381)gcg>gc	p.AA128del	EOMES_ENST00000461503.1_Intron|EOMES_ENST00000449599.1_In_Frame_Del_p.AA128del|EOMES_ENST00000537516.1_Intron			O95936	EOMES_HUMAN	eomesodermin	128	Ala-rich.				CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						ggccgcagccgcggcggcggcgg	0.778													2	4	---	---	---	---						-	27763408	GCG	-	27763406	7	5	134	1	0	1	0	1	0	0	0	0	5175	1087	38	0	1704	0	EOMES	3	27763406	In_Frame_Del	DEL	GCG	TCGA-G9-6365-01A-11D-1786-08		27763406	170259024	10	6577											
CELSR3	1951	broad.mit.edu	37	chr3	48688391	48688391	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgcactggcggccaagggCtcctgggcgacaggggcact	6	6	17	12	2	0	0	0	0	0	0	1	1	1	0	2	6	1	4	2	6	1	1			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	3bf351f4-896d-479c-b925-0d0f4b383492	g.chr3:48688391C>A	ENST00000544264.1	-	15	6584	c.6304G>T	c.(6304-6306)Gcc>Tcc	p.A2102S	CELSR3_ENST00000164024.4_Missense_Mutation_p.A2102S			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2102	Laminin EGF-like.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CGGCCAAGGGCTCCTGGGCGA	0.677													6	77					3.59834e-05	4.44885e-05	0.001168	1	0	A	48688391	C	A	48688391	3	1	134	1	0	0	0	0	1	0	0	0	3245	797	28	4	3718	4	CELSR3	3	48688391	Missense_Mutation	SNP	C	TCGA-G9-6365-01A-11D-1786-08	20924985	48688391	149334039	11	6578											
TKT	7086	broad.mit.edu	37	chr3	53263147	53263147	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccatctgggagggcccgTcttcccctggggtgtggggg	2	8	20	11	1	2	0	0	0	2	0	3	1	3	1	4	7	0	0	4	7	0	1			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr3:53263147T>A	ENST00000462138.1	-	10	1359	c.1271A>T	c.(1270-1272)gAc>gTc	p.D424V	TKT_ENST00000296289.6_Missense_Mutation_p.D377V|TKT_ENST00000423516.1_Missense_Mutation_p.D432V|TKT_ENST00000461139.1_5'UTR|TKT_ENST00000423525.2_Missense_Mutation_p.D424V			P29401	TKT_HUMAN	transketolase	424					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity	p.D424V(1)		endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	Thiamine(DB00152)	GGAGGGCCCGTCTTCCCCTGG	0.572													5	157					0	0	0.001168	0	0	A	53263147	T	A	53263147	3	1	134	1	0	0	0	0	1	0	0	0	15994	1667	58	5	620	5	TKT	3	53263147	Missense_Mutation	SNP	T	TCGA-G9-6365-01A-11D-1786-08	4574756	53263147	144759283	12	6579											
CEP97	79598	broad.mit.edu	37	chr3	101450746	101450746	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacctgcttacctacccagAagtcttgctatactttcttt	8	15	5	13	0	2	1	0	0	2	1	2	1	2	1	3	0	5	3	3	0	5	7			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr3:101450746A>T	ENST00000341893.3	+	5	1262	c.510A>T	c.(508-510)agA>agT	p.R170S	CEP97_ENST00000494050.1_Missense_Mutation_p.R170S|CEP97_ENST00000327230.4_Missense_Mutation_p.R170S			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	170						centrosome|nucleus	protein binding	p.R170S(2)		cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						ACCTACCCAGAAGTCTTGCTA	0.373													7	140					0	0	0.001984	0	0	T	101450746	A	T	101450746	3	4	134	1	0	0	0	0	1	0	0	0	3285	243	9	5	528	5	CEP97	3	101450746	Missense_Mutation	SNP	A	TCGA-G9-6365-01A-11D-1786-08	48187599	101450746	96571684	13	6580											
FGA	2243	broad.mit.edu	37	chr4	155506852	155506852	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaattgtttgctgtaacttgAagatttaccacgggaaggga	13	12	11	5	1	0	2	0	1	0	1	0	4	0	4	1	2	3	3	1	2	5	6			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr4:155506852A>G	ENST00000302053.3	-	5	1807	c.1729T>C	c.(1729-1731)Tca>Cca	p.S577P	FGA_ENST00000403106.3_Missense_Mutation_p.S577P	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	577					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	p.S577P(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CTGTAACTTGAAGATTTACCA	0.443													25	82					0	0	0.00333	0	0	G	155506852	A	G	155506852	3	3	134	1	0	0	0	0	1	0	0	0	5863	246	9	3	923	3	FGA	4	155506852	Missense_Mutation	SNP	A	TCGA-G9-6365-01A-11D-1786-08		155506852	35647424	14	6581											
BRD9	65980	broad.mit.edu	37	chr5	889273	889273	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaaagcaaaaaatccatgggGatcttttctgaaagcaaaga	19	8	8	6	0	2	2	0	1	2	1	3	3	3	3	1	2	2	2	1	2	7	2			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr5:889273G>A	ENST00000323510.4	-	2	120	c.121C>T	c.(121-123)Ccc>Tcc	p.P41S	BRD9_ENST00000467963.1_Missense_Mutation_p.P157S|BRD9_ENST00000435709.2_Missense_Mutation_p.P41S|BRD9_ENST00000388890.4_Missense_Mutation_p.P41S|BRD9_ENST00000483173.1_Missense_Mutation_p.P104S			Q9H8M2	BRD9_HUMAN	bromodomain containing 9	157							nucleic acid binding	p.P41S(1)|p.P157S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			AATCCATGGGGATCTTTTCTG	0.343													13	15					0	0	0.003163	0	0	A	889273	G	A	889273	3	1	134	1	0	0	0	0	1	0	0	0	1509	1174	41	2	1372	2	BRD9	5	889273	Missense_Mutation	SNP	G	TCGA-G9-6365-01A-11D-1786-08		889273	180025987	15	6582											
GFM2	84340	broad.mit.edu	37	chr5	74056731	74056731	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actctaacatttgtacctggTagagaactgcaatttcttcc	11	14	6	10	0	2	1	0	0	2	1	3	2	3	1	2	1	4	3	2	1	5	6			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr5:74056731T>C	ENST00000296805.3	-	3	601	c.144A>G	c.(142-144)ctA>ctG	p.L48L	GFM2_ENST00000345239.2_Silent_p.L48L|GFM2_ENST00000509430.1_Silent_p.L48L|GFM2_ENST00000427854.2_Silent_p.L48L	NM_032380.3	NP_115756.2	Q969S9	RRF2M_HUMAN	G elongation factor, mitochondrial 2	48					mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity	p.L48L(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		TTGTACCTGGTAGAGAACTGC	0.338													6	174					0	0	0.00308	0	0	C	74056731	T	C	74056731	2	2	134	1	0	0	0	0	0	0	0	1	6384	1625	57	3		3	GFM2	5	74056731	Silent	SNP	T	TCGA-G9-6365-01A-11D-1786-08	73167458	74056731	106858529	16	6583											
PCDHB5	0	broad.mit.edu	37	chr5	140516811	140516811	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggcgactcgggccagaacGcctggctgtcgtaccagctg	7	6	14	14	5	0	1	0	0	0	1	2	2	0	1	3	3	3	3	3	3	2	1			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr5:140516811G>A	ENST00000231134.5	+	1	2012	c.1795G>A	c.(1795-1797)Gcc>Acc	p.A599T		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		599	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.A599T(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGCCAGAACGCCTGGCTGTC	0.716													20	62					0	0	0.002299	0	0	A	140516811	G	A	140516811	3	1	134	1	0	0	0	0	1	0	0	0	11592	1087	38	1	1797	1	PCDHB5	5	140516811	Missense_Mutation	SNP	G	TCGA-G9-6365-01A-11D-1786-08	66460080	140516811	40398449	17	6584											
PCDHB12	0	broad.mit.edu	37	chr5	140590277	140590277	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggtgactcgggccagaacGcctggctgtcgtaccagctg	7	7	14	13	4	0	2	0	1	0	1	2	2	0	2	3	3	3	3	3	3	2	1			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr5:140590277G>A	ENST00000239450.2	+	1	1987	c.1798G>A	c.(1798-1800)Gcc>Acc	p.A600T	PCDHB12_ENST00000541609.1_Missense_Mutation_p.A263T	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		600	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.A600T(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGCCAGAACGCCTGGCTGTC	0.716													7	234					0	0	0.008291	0	0	A	140590277	G	A	140590277	3	1	134	1	0	0	0	0	1	0	0	0	11584	1087	38	1	1800	1	PCDHB12	5	140590277	Missense_Mutation	SNP	G	TCGA-G9-6365-01A-11D-1786-08	73466	140590277	40324983	18	6585											
GCNT2	2651	broad.mit.edu	37	chr6	10586319	10586319	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aattgagcccgccaaaaagtTatgagaagctgaacagttcc	15	8	9	9	1	0	3	0	3	0	1	1	4	1	3	3	0	3	3	3	0	6	3			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr6:10586319T>C	ENST00000265012.4	+	1	341	c.97T>C	c.(97-99)Tat>Cat	p.Y33H	GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000316170.3_Intron|GCNT2_ENST00000379597.3_Intron	NM_145655.3	NP_663630.2	Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	34						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	p.Y33H(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		GCCAAAAAGTTATGAGAAGCT	0.388													4	156					0	0	0.000602	0	0	C	10586319	T	C	10586319	3	2	134	1	0	0	0	0	1	0	0	0	6341	1754	61	3	1951	3	GCNT2	6	10586319	Missense_Mutation	SNP	T	TCGA-G9-6365-01A-11D-1786-08		10586319	160528748	19	6586											
UBR2	23304	broad.mit.edu	37	chr6	42609419	42609427	+	In_Frame_Del	DEL	CTAGTAAAC	CTAGTAAAC	-																															ggagaagaaatgggttctctCtagtaaaccaggtaagtgtt																										TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr6:42609419_42609427delCTAGTAAAC	ENST00000372899.1	+	17	2278_2286	c.2020_2028delCTAGTAAAC	c.(2020-2028)del	p.LVN674del	UBR2_ENST00000372901.1_In_Frame_Del_p.LVN674del|UBR2_ENST00000372883.3_In_Frame_Del_p.LVN178del	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	674					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TGGGTTCTCTCTAGTAAACCAGGTAAGTG	0.411													31	88	---	---	---	---						-	42609427	CTAGTAAAC	-	42609419	7	5	134	1	0	1	0	1	0	0	0	0	16963	912	32	0	2232	0	UBR2	6	42609419	In_Frame_Del	DEL	CTAGTAAAC	TCGA-G9-6365-01A-11D-1786-08	32023100	42609419	128505648	20	6587											
OPN5	221391	broad.mit.edu	37	chr6	47763181	47763181	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctcttgctcccaacggCtgtgatcgtgttctcctacg	4	13	9	15	3	2	1	0	1	2	0	5	1	3	1	3	1	4	3	3	1	2	3			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr6:47763181C>T	ENST00000489301.2	+	4	723	c.638C>T	c.(637-639)gCt>gTt	p.A213V	OPN5_ENST00000244799.4_3'UTR|OPN5_ENST00000393699.2_Missense_Mutation_p.A213V|OPN5_ENST00000371211.2_Missense_Mutation_p.A213V			Q6U736	OPN5_HUMAN	opsin 5	213					phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity	p.A213V(1)		endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						CTCCCAACGGCTGTGATCGTG	0.542													32	80					0	0	0.008361	0	0	T	47763181	C	T	47763181	3	4	134	1	0	0	0	0	1	0	0	0	10931	797	28	2	652	2	OPN5	6	47763181	Missense_Mutation	SNP	C	TCGA-G9-6365-01A-11D-1786-08	5153762	47763181	123351886	21	6588											
GCK	2645	broad.mit.edu	37	chr7	44185094	44185094	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagagagcggggcgggctcAcctggggtgcagcttgtaca	7	6	19	9	2	1	1	1	0	0	1	1	3	1	2	1	6	4	4	1	6	1	2			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr7:44185094A>G	ENST00000403799.3	-	9	1723		c.e9+1		GCK_ENST00000437084.1_Splice_Site|GCK_ENST00000395796.3_Splice_Site|GCK_ENST00000345378.2_Splice_Site	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)						cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding	p.?(2)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						GGGCGGGCTCACCTGGGGTGC	0.627													3	9					0	0	0.000248	0	0	G	44185094	A	G	44185094	5	3	134	1	0	0	0	0	0	0	1	0	6333	173	6	3	150	3	GCK	7	44185094	Splice_Site	SNP	A	TCGA-G9-6365-01A-11D-1786-08		44185094	114953569	22	6589											
ATP6V1F	9296	broad.mit.edu	37	chr7	128503029	128503029	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gactggtttcctgctgggcgGcataggggagcttaacaaga	9	9	15	8	1	0	1	0	0	0	1	1	3	1	2	1	5	3	4	1	5	3	3	rs10958		TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr7:128503029G>A	ENST00000492758.1	+	1	72	c.71G>A	c.(70-72)gGc>gAc	p.G24D	ATP6V1F_ENST00000249289.4_Missense_Mutation_p.G24D	NM_001198909.1	NP_001185838.1	Q16864	VATF_HUMAN	ATPase, H+ transporting, lysosomal 14kDa, V1 subunit F	24			G -> V (in dbSNP:rs10958).		ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|membrane fraction|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATPase activity, uncoupled|hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding|proton-transporting ATPase activity, rotational mechanism	p.G24D(1)		lung(1)|ovary(1)|prostate(1)	3						CTGCTGGGCGGCATAGGGGAG	0.582											OREG0018299	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	99					0	0	0.000248	0	0	A	128503029	G	A	128503029	3	1	134	1	0	0	0	0	1	0	0	0	1183	1203	42	2	73	2	ATP6V1F	7	128503029	Missense_Mutation	SNP	G	TCGA-G9-6365-01A-11D-1786-08	84317935	128503029	30635634	23	6590											
DLGAP2	9228	broad.mit.edu	37	chr8	1626466	1626466	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcccaggccacatcaccaCggaggacaaaggccttcagt	11	6	10	14	1	2	0	2	0	0	0	3	2	3	2	4	4	0	1	4	4	1	2			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr8:1626466C>T	ENST00000421627.2	+	9	2269	c.2135C>T	c.(2134-2136)aCg>aTg	p.T712M	DLGAP2_ENST00000524065.1_3'UTR	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	791					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	p.T756M(1)|p.T720M(1)		breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CACATCACCACGGAGGACAAA	0.622													17	53					0	0	0.004007	0	0	T	1626466	C	T	1626466	3	4	134	1	0	0	0	0	1	0	0	0	4588	536	19	1	2165	1	DLGAP2	8	1626466	Missense_Mutation	SNP	C	TCGA-G9-6365-01A-11D-1786-08		1626466	144737556	24	6591											
PREX2	80243	broad.mit.edu	37	chr8	68950516	68950516	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatcttttggtgtactgcaaAagaaaacacaggtaagatcc	16	10	8	7	0	1	2	0	0	1	2	2	2	2	2	1	2	3	3	1	2	7	4			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr8:68950516A>T	ENST00000288368.4	+	7	1105	c.828A>T	c.(826-828)aaA>aaT	p.K276N	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	276	PH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	p.K276N(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TGTACTGCAAAAGAAAACACA	0.403													14	33					0	0	0.00245	0	0	T	68950516	A	T	68950516	3	4	134	1	0	0	0	0	1	0	0	0	12529	11	1	5	854	5	PREX2	8	68950516	Missense_Mutation	SNP	A	TCGA-G9-6365-01A-11D-1786-08	67324050	68950516	77413506	25	6592											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18504896	18504896	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggggcccatggagtgaaTgctcacgcacctgcgggggt	6	7	16	12	2	1	1	1	1	0	0	1	2	1	2	3	5	2	2	3	5	1	0			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr9:18504896T>C	ENST00000380548.4	+	2	472	c.133T>C	c.(133-135)Tgc>Cgc	p.C45R	ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.C45R|ADAMTSL1_ENST00000431052.2_Missense_Mutation_p.C45R|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.C45R|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.C45R|ADAMTSL1_ENST00000380570.4_Missense_Mutation_p.C45R	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	45	TSP type-1 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.C45R(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		ATGGAGTGAATGCTCACGCAC	0.607													11	98					0	0	0.008291	0	0	C	18504896	T	C	18504896	3	2	134	1	0	0	0	0	1	0	0	0	273	1464	51	3	139	3	ADAMTSL1	9	18504896	Missense_Mutation	SNP	T	TCGA-G9-6365-01A-11D-1786-08		18504896	122708535	26	6593											
COL27A1	85301	broad.mit.edu	37	chr9	117052373	117052373	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggcaaggcaggggccccAggccggaggggggtccaggt	8	2	20	11	1	0	0	0	0	0	0	1	1	1	1	4	10	0	2	4	10	2	0			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr9:117052373A>G	ENST00000356083.3	+	46	4633	c.4242A>G	c.(4240-4242)ccA>ccG	p.P1414P		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1414	Collagen-like 13.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent	p.P1414P(1)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CAGGGGCCCCAGGCCGGAGGG	0.642													3	89					0	0	0.000248	0	0	G	117052373	A	G	117052373	2	3	134	1	0	0	0	0	0	0	0	1	3708	175	7	3		3	COL27A1	9	117052373	Silent	SNP	A	TCGA-G9-6365-01A-11D-1786-08	98547477	117052373	24161058	27	6594											
KIAA1217	56243	broad.mit.edu	37	chr10	24508665	24508665	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcagtttccaagtcttccCgcaatatcccaaggagacac	11	10	7	13	1	2	1	1	0	1	1	5	2	5	1	3	1	0	3	3	1	4	4			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr10:24508665C>T	ENST00000376454.3	+	2	211	c.181C>T	c.(181-183)Cgc>Tgc	p.R61C	KIAA1217_ENST00000376462.1_5'UTR|KIAA1217_ENST00000376452.3_Missense_Mutation_p.R61C|KIAA1217_ENST00000458595.1_Missense_Mutation_p.R61C	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	61					embryonic skeletal system development	cytoplasm		p.R61C(1)		breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CAAGTCTTCCCGCAATATCCC	0.498													12	57					0	0	0.001368	0	0	T	24508665	C	T	24508665	3	4	134	1	0	0	0	0	1	0	0	0	8258	652	23	1	187	1	KIAA1217	10	24508665	Missense_Mutation	SNP	C	TCGA-G9-6365-01A-11D-1786-08		24508665	111026082	28	6595											
OR4X1	390113	broad.mit.edu	37	chr11	48286184	48286184	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttgctccttggtctatattAggccctgtgtcaccctccct	4	15	7	15	0	2	0	1	0	1	0	4	0	4	0	4	2	1	1	4	2	3	5			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr11:48286184A>G	ENST00000320048.1	+	1	772	c.772A>G	c.(772-774)Agg>Ggg	p.R258G		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R258G(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						GGTCTATATTAGGCCCTGTGT	0.493													3	221					0	0	0.000248	0	0	G	48286184	A	G	48286184	3	3	134	1	0	0	0	0	1	0	0	0	11132	411	15	3	774	3	OR4X1	11	48286184	Missense_Mutation	SNP	A	TCGA-G9-6365-01A-11D-1786-08		48286184	86720332	29	6596											
CLEC1A	51267	broad.mit.edu	37	chr12	10233907	10233907	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacttcctgcaagctttataTtctggacttgaagagattgc	10	14	9	8	0	1	2	0	1	1	1	2	5	2	3	1	1	3	2	1	1	4	7			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr12:10233907T>A	ENST00000315330.4	-	3	382	c.320A>T	c.(319-321)aAt>aTt	p.N107I	CLEC1A_ENST00000457018.2_Missense_Mutation_p.N74I|CLEC1A_ENST00000420265.2_Intron	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN	C-type lectin domain family 1, member A	107					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity	p.N107I(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						AAGCTTTATATTCTGGACTTG	0.448													5	92					0	0	0.000602	0	0	A	10233907	T	A	10233907	3	1	134	1	0	0	0	0	1	0	0	0	3528	1493	52	5	538	5	CLEC1A	12	10233907	Missense_Mutation	SNP	T	TCGA-G9-6365-01A-11D-1786-08		10233907	123617988	30	6597											
LRRC43	254050	broad.mit.edu	37	chr12	122669084	122669084	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agaataagtcgcgctttcttCctcaaacttggcgaacttgg	10	12	9	10	3	2	1	1	0	1	1	4	2	3	1	1	2	2	1	1	2	4	5			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr12:122669084C>T	ENST00000339777.4	+	2	197	c.169C>T	c.(169-171)Cct>Tct	p.P57S	LRRC43_ENST00000425921.1_5'UTR	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	57								p.P57S(1)		NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		GCGCTTTCTTCCTCAAACTTG	0.562													3	33					0	0	0.004672	0	0	T	122669084	C	T	122669084	3	4	134	1	0	0	0	0	1	0	0	0	9046	855	30	2	175	2	LRRC43	12	122669084	Missense_Mutation	SNP	C	TCGA-G9-6365-01A-11D-1786-08	112435177	122669084	11182811	31	6598											
PSPC1	55269	broad.mit.edu	37	chr13	20277328	20277328	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaatgtttaatatctacgaCgcttattagggccttcaaag	12	13	8	8	3	2	0	1	0	1	0	2	2	2	0	1	1	1	2	1	1	7	7			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr13:20277328C>T	ENST00000338910.4	-	9	1718	c.1559G>A	c.(1558-1560)cGt>cAt	p.R520H		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	520					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding	p.R520H(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		ATATCTACGACGCTTATTAGG	0.433													7	81					0	0	0.006214	0	0	T	20277328	C	T	20277328	3	4	134	1	0	0	0	0	1	0	0	0	12765	536	19	1	16	1	PSPC1	13	20277328	Missense_Mutation	SNP	C	TCGA-G9-6365-01A-11D-1786-08		20277328	94892550	32	6599											
CHMP4A	29082	broad.mit.edu	37	chr14	24682652	24682652	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgagaccactcatcgcgagCtcgcctctcccgcctccgcc	5	6	8	22	6	2	1	1	0	1	1	6	3	3	1	7	0	1	1	7	0	0	0			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr14:24682652C>G	ENST00000347519.6	-	1	423	c.123G>C	c.(121-123)gaG>gaC	p.E41D	TM9SF1_ENST00000530611.1_5'UTR|AL136419.6_ENST00000565988.1_RNA|TM9SF1_ENST00000556387.1_5'UTR	NM_014169.3	NP_054888.2			charged multivesicular body protein 4A									p.E41D(1)		NS(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9				GBM - Glioblastoma multiforme(265;0.0181)		TCATCGCGAGCTCGCCTCTCC	0.672													6	50					0	0	0.001168	0	0	G	24682652	C	G	24682652	3	3	134	1	0	0	0	0	1	0	0	0	3378	796	28	4	698	4	CHMP4A	14	24682652	Missense_Mutation	SNP	C	TCGA-G9-6365-01A-11D-1786-08		24682652	82666888	33	6600											
CDH1	999	broad.mit.edu	37	chr16	68846165	68846165	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgatcttcaatcccaccaCggtaattctataactcctta	11	13	3	14	2	3	0	1	0	2	0	6	1	6	0	4	1	1	1	4	1	5	6			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr16:68846165C>T	ENST00000261769.5	+	8	1327	c.1137_splice	c.e8+1	p.T379_splice	CDH1_ENST00000422392.2_Splice_Site_p.T379_splice|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	379	Cadherin 3.				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.T379M(2)|p.S337_T379del(1)|p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		AATCCCACCACGGTAATTCTA	0.453			"Mis, N, F, S"		"lobular breast, gastric"	gastric			Hereditary Diffuse Gastric Cancer				6	65					0	0	0.001984	0	0	T	68846165	C	T	68846165	5	4	134	1	0	0	0	0	0	0	1	0	3117	550	19	1	1166	1	CDH1	16	68846165	Splice_Site	SNP	C	TCGA-G9-6365-01A-11D-1786-08		68846165	21508588	34	6601											
VAC14	55697	broad.mit.edu	37	chr16	70818709	70818709	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggtctaggagctcagatccGcttttcacattggggtctgg	6	12	13	10	2	4	1	2	0	2	1	5	2	5	2	1	5	1	2	1	5	1	4			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr16:70818709G>A	ENST00000261776.5	-	4	716	c.456C>T	c.(454-456)agC>agT	p.S152S		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	152					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity	p.S152S(1)		breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				GCTCAGATCCGCTTTTCACAT	0.502													8	165					0	0	0.004482	0	0	A	70818709	G	A	70818709	2	1	134	1	0	0	0	0	0	0	0	1	17171	1078	38	1		1	VAC14	16	70818709	Silent	SNP	G	TCGA-G9-6365-01A-11D-1786-08	1972544	70818709	19536044	35	6602											
SERPINF1	5176	broad.mit.edu	37	chr17	1679918	1679918	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accttgatagaggagagcctCacctccgagttcattcatga	11	10	9	11	1	3	4	3	2	0	2	4	6	4	4	4	1	1	1	4	1	1	4			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr17:1679918C>T	ENST00000254722.4	+	7	1042	c.879C>T	c.(877-879)ctC>ctT	p.L293L		NM_002615.5	NP_002606.3	P36955	PEDF_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1	293					cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis	extracellular space|melanosome	serine-type endopeptidase inhibitor activity	p.L293L(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						AGGAGAGCCTCACCTCCGAGT	0.522													5	166					0	0	0.000602	0	0	T	1679918	C	T	1679918	2	4	134	1	0	0	0	0	0	0	0	1	14168	813	29	2		2	SERPINF1	17	1679918	Silent	SNP	C	TCGA-G9-6365-01A-11D-1786-08		1679918	79515292	36	6603											
TAOK1	57551	broad.mit.edu	37	chr17	27844648	27844648	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaatgttacttgggcgtcatAacttagagcaggaccttgtc	10	12	11	8	1	1	1	1	0	0	1	2	3	1	2	1	2	3	2	1	2	4	5			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr17:27844648A>C	ENST00000261716.3	+	16	2401	c.1882A>C	c.(1882-1884)Aac>Cac	p.N628H	TAOK1_ENST00000536202.1_Intron	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	628					mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity	p.N628H(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			TGGGCGTCATAACTTAGAGCA	0.393													28	97					0	0	0.001786	0	0	C	27844648	A	C	27844648	3	2	134	1	0	0	0	0	1	0	0	0	15604	362	13	5	1940	5	TAOK1	17	27844648	Missense_Mutation	SNP	A	TCGA-G9-6365-01A-11D-1786-08	26164730	27844648	53350562	37	6604											
UNC45B	146862	broad.mit.edu	37	chr17	33504058	33504058	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgattcccctggctttggAgggcacagatgtgggcaagg	7	9	15	10	0	0	2	0	1	0	1	1	3	1	3	3	5	0	3	3	5	1	2			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr17:33504058A>G	ENST00000268876.5	+	16	2151	c.2054A>G	c.(2053-2055)gAg>gGg	p.E685G	UNC45B_ENST00000378449.1_Missense_Mutation_p.E604G|UNC45B_ENST00000433649.1_Missense_Mutation_p.E683G|UNC45B_ENST00000394570.2_Missense_Mutation_p.E683G|UNC45B_ENST00000591048.1_Missense_Mutation_p.E604G	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	685					cell differentiation|muscle organ development	cytosol	binding	p.E685G(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				CTGGCTTTGGAGGGCACAGAT	0.572													3	133					0	0	0.000602	0	0	G	33504058	A	G	33504058	3	3	134	1	0	0	0	0	1	0	0	0	17049	304	11	3	2112	3	UNC45B	17	33504058	Missense_Mutation	SNP	A	TCGA-G9-6365-01A-11D-1786-08	5659410	33504058	47691152	38	6605											
TBCD	6904	broad.mit.edu	37	chr17	80726352	80726352	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccgtgacctgcctgatcccTtttgatttttctcgccttga	4	17	7	13	2	1	4	0	4	1	0	4	4	3	4	5	0	1	0	5	0	0	5			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr17:80726352T>C	ENST00000355528.4	+	5	622	c.492T>C	c.(490-492)ccT>ccC	p.P164P	TBCD_ENST00000539345.2_Silent_p.P164P|TBCD_ENST00000397466.2_5'UTR	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	164					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			GCCTGATCCCTTTTGATTTTT	0.473													4	297					0	0	0.000248	0	0	C	80726352	T	C	80726352	2	2	134	1	0	0	0	0	0	0	0	1	15693	1596	56	3		3	TBCD	17	80726352	Silent	SNP	T	TCGA-G9-6365-01A-11D-1786-08	47222294	80726352	468858	39	6606											
EMR2	30817	broad.mit.edu	37	chr19	14875286	14875286	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agttcaacagcccattggaaAggttcttgctcaggcctctg	9	11	10	11	0	4	0	2	0	2	0	4	1	4	1	2	3	3	3	2	3	2	4			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr19:14875286A>C	ENST00000315576.3	-	11	1494	c.1043T>G	c.(1042-1044)cTt>cGt	p.L348R	EMR2_ENST00000601345.1_Missense_Mutation_p.L348R|EMR2_ENST00000392967.2_Missense_Mutation_p.L348R|EMR2_ENST00000392964.3_Missense_Mutation_p.L87R|EMR2_ENST00000596991.2_Missense_Mutation_p.L348R|EMR2_ENST00000595839.1_Missense_Mutation_p.L206R|EMR2_ENST00000594076.1_Missense_Mutation_p.L255R|EMR2_ENST00000594294.1_Missense_Mutation_p.L299R|EMR2_ENST00000392965.3_Missense_Mutation_p.L348R|EMR2_ENST00000353005.1_Missense_Mutation_p.L206R|EMR2_ENST00000353876.1_Missense_Mutation_p.L255R|EMR2_ENST00000346057.1_Missense_Mutation_p.L299R	NM_013447.2	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	348					cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.L348R(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						CCCATTGGAAAGGTTCTTGCT	0.577													3	63					0	0	0.000248	0	0	C	14875286	A	C	14875286	3	2	134	1	0	0	0	0	1	0	0	0	5133	72	3	5	1472	5	EMR2	19	14875286	Missense_Mutation	SNP	A	TCGA-G9-6365-01A-11D-1786-08		14875286	44253697	40	6607											
PSG11	5680	broad.mit.edu	37	chr19	43519267	43519267	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggatgctgggatccacttaCcaatgactctgattgtcaag	11	11	10	9	0	2	2	1	2	1	0	3	4	3	4	2	2	2	1	2	2	3	2			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr19:43519267C>A	ENST00000401740.1	-	4	1068		c.e4+1		PSG11_ENST00000320078.7_Splice_Site|PSG11_ENST00000306322.7_Splice_Site|PSG11_ENST00000403486.1_Splice_Site			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11						female pregnancy	extracellular region		p.?(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				GATCCACTTACCAATGACTCT	0.473													12	158					1.08611e-07	1.3935e-07	0.000978	1	0	A	43519267	C	A	43519267	5	1	134	1	0	0	0	0	0	0	1	0	12703	521	18	4	50	4	PSG11	19	43519267	Splice_Site	SNP	C	TCGA-G9-6365-01A-11D-1786-08	28643981	43519267	15609716	41	6608											
KLK3	354	broad.mit.edu	37	chr19	51361766	51361766	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccatgttatttccaatgAcgtgtgtgcgcaagttcacc	8	13	8	12	2	1	1	1	1	0	0	3	1	3	1	4	0	1	3	4	0	3	3			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr19:51361766A>C	ENST00000360617.3	+	4	545	c.545A>C	c.(544-546)gAc>gCc	p.D182A	KLK3_ENST00000326003.2_Missense_Mutation_p.D182A|KLK3_ENST00000595952.1_Missense_Mutation_p.D139A|KLK3_ENST00000597483.1_Missense_Mutation_p.D139A|KLK3_ENST00000593997.1_Missense_Mutation_p.D182A			P07288	KLK3_HUMAN	kallikrein-related peptidase 3	182	Peptidase S1.				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity	p.D182A(2)		breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		ATTTCCAATGACGTGTGTGCG	0.547													6	175					0	0	0.001984	0	0	C	51361766	A	C	51361766	3	2	134	1	0	0	0	0	1	0	0	0	8448	275	10	5	563	5	KLK3	19	51361766	Missense_Mutation	SNP	A	TCGA-G9-6365-01A-11D-1786-08	7842499	51361766	7767217	42	6609											
ZNF761	388561	broad.mit.edu	37	chr19	53946133	53946133	+	RNA	DEL	A	A	-																															tctttaaaaatcatgttgtgAaaaaaaaaatacataatcac																								rs35108555		TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr19:53946133delA	ENST00000454407.1	+	0	55				TPM3P9_ENST00000424846.3_RNA			Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		TCATGTTGTGAAAAAAAAAAT	0.348													3	4	---	---	---	---						-	53946133	A	-	53946133	6	5	134	0	1	1	0	1	0	0	0	0	18186	261	9	0		0	ZNF761	19	53946133	RNA	DEL	A	TCGA-G9-6365-01A-11D-1786-08	2584367	53946133	5182850	43	6610											
MBOAT7	79143	broad.mit.edu	37	chr19	54692085	54692085	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcaccagggctgggcctgAatgagggcccaggtcccgag	7	6	15	13	1	1	2	1	2	1	0	3	3	2	2	4	4	0	1	4	4	1	0			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr19:54692085A>C	ENST00000245615.1	-	3	672	c.192T>G	c.(190-192)atT>atG	p.I64M	MBOAT7_ENST00000338624.6_Missense_Mutation_p.S34A|MBOAT7_ENST00000474910.1_5'UTR|MBOAT7_ENST00000431666.2_Missense_Mutation_p.S34A|MBOAT7_ENST00000391754.1_Missense_Mutation_p.I64M	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	64					phospholipid biosynthetic process	integral to membrane	acyltransferase activity	p.I64M(1)		endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCTGGGCCTGAATGAGGGCCC	0.607													3	97					0	0	0.004672	0	0	C	54692085	A	C	54692085	3	2	134	1	0	0	0	0	1	0	0	0	9408	246	9	5	1254	5	MBOAT7	19	54692085	Missense_Mutation	SNP	A	TCGA-G9-6365-01A-11D-1786-08	745952	54692085	4436898	44	6611											
GNAS	2778	broad.mit.edu	37	chr20	57415470	57415470	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccccgagtgcctagagtaCgaggaagagttcgactacga	11	7	12	11	4	0	2	0	0	0	2	2	7	1	3	3	1	3	2	3	1	4	4			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr20:57415470C>T	ENST00000313949.7	+	1	698	c.309C>T	c.(307-309)taC>taT	p.Y103Y	GNAS_ENST00000371098.2_Silent_p.Y103Y|GNAS-AS1_ENST00000424094.2_RNA|GNAS_ENST00000371075.3_Silent_p.Y103Y|GNAS-AS1_ENST00000443966.1_RNA|GNAS-AS1_ENST00000598163.1_RNA			P63092	GNAS2_HUMAN	GNAS complex locus	105					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	p.Y103Y(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCCTAGAGTACGAGGAAGAGT	0.627			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)			32	91					0	0	0.002096	0	0	T	57415470	C	T	57415470	2	4	134	1	0	0	0	0	0	0	0	1	6552	547	19	1		1	GNAS	20	57415470	Silent	SNP	C	TCGA-G9-6365-01A-11D-1786-08		57415470	5610050	45	6612											
AGPAT3	56894	broad.mit.edu	37	chr21	45400973	45400973	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaacttcctgtcctgggccaCcattctcctgtctcccctct	4	13	6	18	0	3	0	0	0	3	0	7	1	5	0	7	1	1	0	7	1	1	2			TCGA-G9-6365-01A-11D-1786-08	TCGA-G9-6365-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	769e2ac9-a121-4b2a-a0fd-5f755b579811	bab99ce8-a7bc-4637-9322-032ea79b8c23	g.chr21:45400973C>A	ENST00000398063.2	+	8	1439	c.947C>A	c.(946-948)aCc>aAc	p.T316N	AGPAT3_ENST00000327505.2_Missense_Mutation_p.T316N|AGPAT3_ENST00000291572.8_Missense_Mutation_p.T316N|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000546158.1_Missense_Mutation_p.T316N|AGPAT3_ENST00000398058.1_Missense_Mutation_p.T316N|AGPAT3_ENST00000398061.1_Missense_Mutation_p.T316N	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	316					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	p.T316N(1)		large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		TCCTGGGCCACCATTCTCCTG	0.552													4	121					1.23904e-05	1.56027e-05	0.000602	1	0	A	45400973	C	A	45400973	3	1	134	1	0	0	0	0	1	0	0	0	385	507	18	4	973	4	AGPAT3	21	45400973	Missense_Mutation	SNP	C	TCGA-G9-6365-01A-11D-1786-08		45400973	2728922	46	6613											
PTCH2	8643	broad.mit.edu	37	chr1	45293750	45293750	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgaccacatgctggctgctgGcttcacagtgggtaaaggct	8	10	13	10	0	1	1	1	1	0	0	1	1	1	1	1	4	2	6	1	4	2	2			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr1:45293750G>A	ENST00000447098.2	-	14	1834	c.1823C>T	c.(1822-1824)gCc>gTc	p.A608V	PTCH2_ENST00000372192.3_Missense_Mutation_p.A608V	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	608					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CTGGCTGCTGGCTTCACAGTG	0.627									Basal Cell Nevus syndrome				16	172					0	0	1	0	0	A	45293750	G	A	45293750	3	1	135	1	0	0	0	0	1	0	0	0	12780	1203	42	2	1844	2	PTCH2	1	45293750	Missense_Mutation	SNP	G	TCGA-G9-6366-01A-11D-2114-08		45293750	203956871	1	6614											
PGLYRP4	57115	broad.mit.edu	37	chr1	153314146	153314146	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaggggccaggcagttctcGcctttcccaagaagtggctg	7	8	14	12	2	1	1	0	0	1	1	3	2	2	1	3	4	0	3	3	4	2	2			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr1:153314146G>A	ENST00000368739.3	-	6	928	c.570C>T	c.(568-570)ggC>ggT	p.G190G	PGLYRP4_ENST00000359650.5_Silent_p.G194G			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	194					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGCAGTTCTCGCCTTTCCCAA	0.572													48	123					0	0	1	0	0	A	153314146	G	A	153314146	2	1	135	1	0	0	0	0	0	0	0	1	11844	1074	38	1		1	PGLYRP4	1	153314146	Silent	SNP	G	TCGA-G9-6366-01A-11D-2114-08	108020396	153314146	95936475	2	6615											
KCNJ10	3766	broad.mit.edu	37	chr1	160011538	160011538	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggagatctttcaagggactgGtctcatctaccacatgatag	11	11	10	9	0	4	2	2	1	3	1	5	4	4	3	1	3	1	0	1	3	3	3			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr1:160011538G>A	ENST00000368089.3	-	2	1011	c.785C>T	c.(784-786)aCc>aTc	p.T262I	KCNJ10_ENST00000509700.1_Intron	NM_002241.4	NP_002232.2	P78508	IRK10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	262						integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CAAGGGACTGGTCTCATCTAC	0.522													5	111					0	0	1	0	0	A	160011538	G	A	160011538	3	1	135	1	0	0	0	0	1	0	0	0	8088	1261	44	2	358	2	KCNJ10	1	160011538	Missense_Mutation	SNP	G	TCGA-G9-6366-01A-11D-2114-08	6697392	160011538	89239083	3	6616											
CNST	163882	broad.mit.edu	37	chr1	246810985	246810985	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcttacagacagtgatggAaaatcaccacaggcgcaggc	14	6	11	10	1	2	2	1	1	1	1	2	4	2	3	1	3	1	1	1	3	3	1			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr1:246810985A>G	ENST00000366513.4	+	9	1751	c.1482A>G	c.(1480-1482)ggA>ggG	p.G494G	CNST_ENST00000366512.3_Silent_p.G494G|CNST_ENST00000483271.1_3'UTR	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	494					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						ACAGTGATGGAAAATCACCAC	0.473													8	78					0	0	1	0	0	G	246810985	A	G	246810985	2	3	135	1	0	0	0	0	0	0	0	1	3657	233	9	3		3	CNST	1	246810985	Silent	SNP	A	TCGA-G9-6366-01A-11D-2114-08	86799447	246810985	2439636	4	6617											
WDR33	55339	broad.mit.edu	37	chr2	128467314	128467314	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgagatctcgtcctcgggccGcttcctcagaagcatcaaaa	10	9	9	13	3	3	2	2	1	1	2	7	3	5	2	3	1	1	2	3	1	3	1	rs139877926		TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr2:128467314G>A	ENST00000322313.4	-	19	3583	c.3425C>T	c.(3424-3426)gCg>gTg	p.A1142V		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1142					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TCCTCGGGCCGCTTCCTCAGA	0.577													4	131					0	0	1	0	0	A	128467314	G	A	128467314	3	1	135	1	0	0	0	0	1	0	0	0	17347	1087	38	1	601	1	WDR33	2	128467314	Missense_Mutation	SNP	G	TCGA-G9-6366-01A-11D-2114-08		128467314	114732059	5	6618											
CACNB4	785	broad.mit.edu	37	chr2	152732968	152732968	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaacgtcctcttttttgttCttgctggatccgtatgttct	6	19	7	9	2	3	0	0	0	3	0	5	1	5	1	2	1	2	4	2	1	3	7			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr2:152732968C>A	ENST00000360283.6	-	4	648	c.391G>T	c.(391-393)Gaa>Taa	p.E131*	CACNB4_ENST00000539935.1_Nonsense_Mutation_p.E165*|CACNB4_ENST00000534999.1_Nonsense_Mutation_p.E131*|CACNB4_ENST00000201943.5_Nonsense_Mutation_p.E165*|CACNB4_ENST00000427385.1_Nonsense_Mutation_p.E147*|CACNB4_ENST00000397327.2_Nonsense_Mutation_p.E118*			O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	165	SH3.				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)	CTTTTTTGTTCTTGCTGGATC	0.408													10	16					1.5842e-08	1.74262e-08	1	1	0	A	152732968	C	A	152732968	4	1	135	1	0	0	0	0	0	1	0	0	2573	922	32	4	1109	4	CACNB4	2	152732968	Nonsense_Mutation	SNP	C	TCGA-G9-6366-01A-11D-2114-08	24265654	152732968	90466405	6	6619											
SAG	6295	broad.mit.edu	37	chr2	234237163	234237163	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atccgcaaagtacagcatgcCccacttgagatgggtcccca	11	7	9	14	1	0	1	0	1	0	1	2	2	2	1	5	1	3	3	5	1	2	2			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr2:234237163C>T	ENST00000409110.1	+	8	782	c.552C>T	c.(550-552)gcC>gcT	p.A184A	SAG_ENST00000449594.2_Silent_p.A50A	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	184					rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		TACAGCATGCCCCACTTGAGA	0.587													7	140					0	0	1	0	0	T	234237163	C	T	234237163	2	4	135	1	0	0	0	0	0	0	0	1	13860	610	22	2		2	SAG	2	234237163	Silent	SNP	C	TCGA-G9-6366-01A-11D-2114-08	81504195	234237163	8962210	7	6620											
IL17RC	84818	broad.mit.edu	37	chr3	9962224	9962224	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgccctagggagtgaggtacGaatctggtcctatactcagc	9	10	12	10	1	2	1	1	1	1	0	3	3	3	2	2	3	4	1	2	3	5	4			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr3:9962224G>A	ENST00000295981.3	+	6	946	c.728G>A	c.(727-729)cGa>cAa	p.R243Q	IL17RC_ENST00000383812.4_Missense_Mutation_p.R172Q|IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000413608.1_Missense_Mutation_p.R172Q|IL17RC_ENST00000455057.1_Missense_Mutation_p.R172Q|IL17RC_ENST00000416074.2_Missense_Mutation_p.R43Q|IL17RC_ENST00000403601.3_Missense_Mutation_p.R172Q	NM_153461.3	NP_703191.1	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	243						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						AGTGAGGTACGAATCTGGTCC	0.592													6	28					0	0	1	0	0	A	9962224	G	A	9962224	3	1	135	1	0	0	0	0	1	0	0	0	7685	1058	37	1	750	1	IL17RC	3	9962224	Missense_Mutation	SNP	G	TCGA-G9-6366-01A-11D-2114-08		9962224	188060206	8	6621											
SACM1L	22908	broad.mit.edu	37	chr3	45745007	45745007	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acttaccattgaccgtgtgtCcacagaggttacccttgcag	9	11	9	12	1	0	2	0	1	0	1	1	2	1	2	4	1	3	2	4	1	2	4			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr3:45745007C>A	ENST00000389061.5	+	2	314	c.110C>A	c.(109-111)tCc>tAc	p.S37Y	SACM1L_ENST00000418611.1_5'UTR|SACM1L_ENST00000541314.1_Missense_Mutation_p.P19T|SACM1L_ENST00000464524.1_3'UTR	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN	SAC1 suppressor of actin mutations 1-like (yeast)	37						Golgi apparatus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		GACCGTGTGTCCACAGAGGTT	0.353													36	71					1.61863e-15	1.81067e-15	1	1	0	A	45745007	C	A	45745007	3	1	135	1	0	0	0	0	1	0	0	0	13855	855	30	4	116	4	SACM1L	3	45745007	Missense_Mutation	SNP	C	TCGA-G9-6366-01A-11D-2114-08	35782783	45745007	152277423	9	6622											
EXOC1	55763	broad.mit.edu	37	chr4	56762964	56762964	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttccatttgttgctgaatttGaagaatttgctggacttgca	9	17	9	6	0	0	3	0	2	0	1	1	4	1	4	1	1	3	4	1	1	3	6			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr4:56762964G>C	ENST00000381295.2	+	16	2383	c.2035G>C	c.(2035-2037)Gaa>Caa	p.E679Q	EXOC1_ENST00000349598.6_Missense_Mutation_p.E664Q|EXOC1_ENST00000346134.7_Missense_Mutation_p.E679Q	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	679					exocytosis|protein transport	exocyst	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					TGCTGAATTTGAAGAATTTGC	0.368													3	63					0	0	1	0	0	C	56762964	G	C	56762964	3	2	135	1	0	0	0	0	1	0	0	0	5328	1291	45	4	2093	4	EXOC1	4	56762964	Missense_Mutation	SNP	G	TCGA-G9-6366-01A-11D-2114-08		56762964	134391312	10	6623											
PDZD2	23037	broad.mit.edu	37	chr5	32089285	32089285	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctgtgaaggctggggggAcggaccacaggaaacccttg	10	6	16	9	1	0	1	0	1	0	0	0	4	0	4	2	6	2	2	2	6	2	1			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr5:32089285A>G	ENST00000438447.1	+	20	6119	c.5731A>G	c.(5731-5733)Acg>Gcg	p.T1911A	PDZD2_ENST00000282493.3_Missense_Mutation_p.T1911A			O15018	PDZD2_HUMAN	PDZ domain containing 2	1911					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GGCTGGGGGGACGGACCACAG	0.582													4	99					0	0	1	0	0	G	32089285	A	G	32089285	3	3	135	1	0	0	0	0	1	0	0	0	11748	275	10	3	5805	3	PDZD2	5	32089285	Missense_Mutation	SNP	A	TCGA-G9-6366-01A-11D-2114-08		32089285	148825975	11	6624											
NIPBL	25836	broad.mit.edu	37	chr5	37017250	37017250	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggatcaaggatctatagaaCgcattttaaaacaggtacta	16	11	8	6	1	2	1	1	0	1	1	2	3	2	3	0	3	3	2	0	3	8	6	rs149451089		TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr5:37017250C>G	ENST00000282516.8	+	24	5405	c.4906C>G	c.(4906-4908)Cgc>Ggc	p.R1636G	NIPBL_ENST00000448238.2_Missense_Mutation_p.R1636G	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1636					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ATCTATAGAACGCATTTTAAA	0.333													8	34					0	0	1	0	0	G	37017250	C	G	37017250	3	3	135	1	0	0	0	0	1	0	0	0	10475	536	19	4	4996	4	NIPBL	5	37017250	Missense_Mutation	SNP	C	TCGA-G9-6366-01A-11D-2114-08	4927965	37017250	143898010	12	6625											
NSA2	10412	broad.mit.edu	37	chr5	74069862	74069862	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcgaattgggccttgtgaCacaaggaggcaaagttattt	12	10	13	6	1	0	1	0	1	0	0	0	4	0	2	1	3	1	2	1	3	4	4			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr5:74069862C>T	ENST00000296802.5	+	5	1061	c.692C>T	c.(691-693)aCa>aTa	p.T231I		NM_014886.3	NP_055701.1	O95478	NSA2_HUMAN	NSA2 ribosome biogenesis homolog (S. cerevisiae)	231					rRNA processing	nucleolus|ribonucleoprotein complex				breast(1)|endometrium(2)|kidney(1)|lung(1)|ovary(1)|skin(1)	7						GGCCTTGTGACACAAGGAGGC	0.383													10	148					0	0	1	0	0	T	74069862	C	T	74069862	3	4	135	1	0	0	0	0	1	0	0	0	10716	478	17	2	710	2	NSA2	5	74069862	Missense_Mutation	SNP	C	TCGA-G9-6366-01A-11D-2114-08	37052612	74069862	106845398	13	6626											
AKAP12	9590	broad.mit.edu	37	chr6	151672836	151672836	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgctcaggaggcaaaaactGagccttttacacaagggaag	15	7	11	8	0	1	1	1	1	0	0	1	3	1	3	1	3	4	2	1	3	5	2			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr6:151672836G>C	ENST00000402676.2	+	4	3550	c.3310G>C	c.(3310-3312)Gag>Cag	p.E1104Q	AKAP12_ENST00000253332.1_Missense_Mutation_p.E1104Q|AKAP12_ENST00000359755.5_Missense_Mutation_p.E999Q|AKAP12_ENST00000354675.6_Missense_Mutation_p.E1006Q	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1104					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GGCAAAAACTGAGCCTTTTAC	0.502													3	51					0	0	1	0	0	C	151672836	G	C	151672836	3	2	135	1	0	0	0	0	1	0	0	0	445	1291	45	4	3349	4	AKAP12	6	151672836	Missense_Mutation	SNP	G	TCGA-G9-6366-01A-11D-2114-08		151672836	19442231	14	6627											
FAM120B	84498	broad.mit.edu	37	chr6	170667405	170667405	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgcagcttgtaaatctacAggtacagacgtgaccagtta	12	10	9	10	2	1	2	0	1	1	1	2	2	1	2	1	1	3	5	1	1	5	5			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr6:170667405A>T	ENST00000476287.1	+	6	2390	c.2283_splice	c.e6+1	p.Q761_splice	FAM120B_ENST00000252510.9_Splice_Site_p.Q93_splice|FAM120B_ENST00000540480.1_Splice_Site_p.Q773_splice|FAM120B_ENST00000537664.1_Splice_Site_p.Q784_splice	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	761					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		GTAAATCTACAGGTACAGACG	0.493													5	17					0	0	1	0	0	T	170667405	A	T	170667405	5	4	135	1	0	0	0	0	0	0	1	0	5448	202	7	5	2300	5	FAM120B	6	170667405	Splice_Site	SNP	A	TCGA-G9-6366-01A-11D-2114-08	18994569	170667405	447662	15	6628											
TRPV6	55503	broad.mit.edu	37	chr7	142572878	142572878	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgacagtcaccagctcccCgaccagccggatatcgtcct	10	7	8	16	3	1	1	1	1	0	0	4	3	3	2	6	1	2	1	6	1	2	1			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr7:142572878C>A	ENST00000359396.3	-	9	1407	c.1162G>T	c.(1162-1164)Ggg>Tgg	p.G388W		NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	388					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					ACCAGCTCCCCGACCAGCCGG	0.567													3	129					1	1	1	1	0	A	142572878	C	A	142572878	3	1	135	1	0	0	0	0	1	0	0	0	16661	652	23	4	1043	4	TRPV6	7	142572878	Missense_Mutation	SNP	C	TCGA-G9-6366-01A-11D-2114-08		142572878	16565785	16	6629											
TEX15	56154	broad.mit.edu	37	chr8	30694423	30694423	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attgtgaaaaaattggctgcCgaaaattagaagcaggtatt	16	11	10	4	1	0	2	0	1	0	1	0	3	0	2	1	2	2	3	1	2	8	5			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr8:30694423C>T	ENST00000256246.2	-	3	8302	c.8228G>A	c.(8227-8229)cGg>cAg	p.R2743Q		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2743										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AATTGGCTGCCGAAAATTAGA	0.408													6	138					0	0	1	0	0	T	30694423	C	T	30694423	3	4	135	1	0	0	0	0	1	0	0	0	15838	652	23	1	149	1	TEX15	8	30694423	Missense_Mutation	SNP	C	TCGA-G9-6366-01A-11D-2114-08		30694423	115669599	17	6630											
KIAA1429	25962	broad.mit.edu	37	chr8	95549369	95549369	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatgatggaagtattctcatCatattccaggctgtcaagag	12	12	10	7	0	3	2	3	1	1	1	5	4	4	3	1	2	0	2	1	2	4	4			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr8:95549369C>G	ENST00000297591.5	-	4	352	c.277G>C	c.(277-279)Gat>Cat	p.D93H	KIAA1429_ENST00000437199.1_Missense_Mutation_p.D93H|KIAA1429_ENST00000421249.2_Missense_Mutation_p.D93H	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	93					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GTATTCTCATCATATTCCAGG	0.333													4	145					0	0	1	0	0	G	95549369	C	G	95549369	3	3	135	1	0	0	0	0	1	0	0	0	8273	826	29	4	5299	4	KIAA1429	8	95549369	Missense_Mutation	SNP	C	TCGA-G9-6366-01A-11D-2114-08	64854946	95549369	50814653	18	6631											
DENND3	22898	broad.mit.edu	37	chr8	142178473	142178473	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcgagatcctggacaagccGcacgaggcctcgaagctgga	11	4	14	12	4	0	1	0	0	0	1	2	6	1	3	3	3	3	2	3	3	2	0			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr8:142178473G>A	ENST00000519811.1	+	13	2194	c.2124G>A	c.(2122-2124)ccG>ccA	p.P708P	DENND3_ENST00000424248.1_Silent_p.P576P|DENND3_ENST00000262585.2_Silent_p.P628P			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	628										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			TGGACAAGCCGCACGAGGCCT	0.612													30	50					0	0	1	0	0	A	142178473	G	A	142178473	2	1	135	1	0	0	0	0	0	0	0	1	4460	1074	38	1		1	DENND3	8	142178473	Silent	SNP	G	TCGA-G9-6366-01A-11D-2114-08	46629104	142178473	4185549	19	6632											
EPPK1	83481	broad.mit.edu	37	chr8	144940608	144940608	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgcgcacggggtcgatgaCgaagccggtggccgcctgcg	5	6	18	12	7	0	1	0	1	0	0	1	3	0	1	3	4	3	2	3	4	1	1			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr8:144940608C>T	ENST00000525985.1	-	2	6885	c.6814G>A	c.(6814-6816)Gtc>Atc	p.V2272I				P58107	EPIPL_HUMAN	epiplakin 1	2272						cytoplasm|cytoskeleton	protein binding|structural molecule activity	p.V2272I(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGGTCGATGACGAAGCCGGTG	0.716													5	41					0	0	1	0	0	T	144940608	C	T	144940608	3	4	135	1	0	0	0	0	1	0	0	0	5218	536	19	1	452	1	EPPK1	8	144940608	Missense_Mutation	SNP	C	TCGA-G9-6366-01A-11D-2114-08	2762135	144940608	1423414	20	6633											
PTEN	5728	broad.mit.edu	37	chr10	89717713	89717715	+	In_Frame_Del	DEL	GTT	GTT	-																															tactttgagttccctcagccGttacctgtgtgtggtgatat																										TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr10:89717713_89717715delGTT	ENST00000371953.3	+	7	2095_2097	c.738_740delGTT	c.(736-741)cca>cc	p.PL246del	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	246	C2 tensin-type.		P -> L (in CD and BZS).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.P246fs*10(3)|p.L247fs*10(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.L247*(2)|p.L247fs*11(1)|p.L247fs*12(1)|p.G165_*404del(1)|p.L247fs*6(1)|p.?(1)|p.L247fs*5(1)|p.F243fs*9(1)|p.L247fs*8(1)|p.L247fs*4(1)|p.P246_L247insGP(1)|p.L247L(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TCCCTCAGCCGTTACCTGTGTGT	0.409		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			28	89	---	---	---	---						-	89717715	GTT	-	89717713	7	5	135	1	0	1	0	1	0	0	0	0	12787	1132	40	0	764	0	PTEN	10	89717713	In_Frame_Del	DEL	GTT	TCGA-G9-6366-01A-11D-2114-08		89717713	45817034	21	6634											
PLCZ1	89869	broad.mit.edu	37	chr12	18872504	18872504	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acattcatttttaaacagtaGacattcacgtgaatccatgt	14	14	5	8	1	2	2	2	1	0	1	3	2	3	2	1	0	1	1	1	0	4	6	rs140550681		TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr12:18872504G>C	ENST00000266505.7	-	5	693	c.430C>G	c.(430-432)Cta>Gta	p.L144V	PLCZ1_ENST00000541695.1_Missense_Mutation_p.L7V|PLCZ1_ENST00000447925.2_Missense_Mutation_p.L142V|PLCZ1_ENST00000435379.1_Intron|PLCZ1_ENST00000539875.1_Intron|RP11-361I14.2_ENST00000536931.1_RNA			Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	144					intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					TTAAACAGTAGACATTCACGT	0.264													16	40					0	0	1	0	0	C	18872504	G	C	18872504	3	2	135	1	0	0	0	0	1	0	0	0	12092	933	33	4	1440	4	PLCZ1	12	18872504	Missense_Mutation	SNP	G	TCGA-G9-6366-01A-11D-2114-08		18872504	114979391	22	6635											
KRT18	3875	broad.mit.edu	37	chr12	53344130	53344156	+	In_Frame_Del	DEL	GACAATGCCCGCATCGTTCTGCAGATT	GACAATGCCCGCATCGTTCTGCAGATT	-																															agatcttcgcaaatactgtgGacaatgcccgcatcgttctg																								rs59979366	byFrequency	TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr12:53344130_53344156delGACAATGCCCGCATCGTTCTGCAGATT	ENST00000550600.1	+	3	490_516	c.436_462delGACAATGCCCGCATCGTTCTGCAGATT	c.(436-462)del	p.DNARIVLQI146del	KRT18_ENST00000388835.3_In_Frame_Del_p.DNARIVLQI146del|KRT18_ENST00000388837.2_In_Frame_Del_p.DNARIVLQI146del			P05783	K1C18_HUMAN	keratin 18	146	Coil 1B.|Necessary for interaction with PNN.|Rod.				anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						AAATACTGTGGACAATGCCCGCATCGTTCTGCAGATTGACAATGCCC	0.498													7	759	---	---	---	---						-	53344156	GACAATGCCCGCATCGTTCTGCAGATT	-	53344130	7	5	135	1	0	1	0	1	0	0	0	0	8498	1174	41	0	442	0	KRT18	12	53344130	In_Frame_Del	DEL	GACAATGCCCGCATCGTTCTGCAGATT	TCGA-G9-6366-01A-11D-2114-08	34471626	53344130	80507765	23	6636											
CALCOCO1	57658	broad.mit.edu	37	chr12	54118947	54118947	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtgacattccaccttggtgTtggggatgtaggtccgggct	6	12	15	8	1	0	1	0	1	0	0	2	2	2	2	3	5	0	3	3	5	1	4			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr12:54118947T>C	ENST00000548263.1	-	2	128	c.80A>G	c.(79-81)aAc>aGc	p.N27S	CALCOCO1_ENST00000550804.1_Missense_Mutation_p.N27S|CALCOCO1_ENST00000430117.2_Missense_Mutation_p.N27S|CALCOCO1_ENST00000547885.1_5'UTR|CALCOCO1_ENST00000262059.4_Missense_Mutation_p.N27S			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	27	N-terminal AD (CTNNB1 binding site) (By similarity).|p300 KIX-binding (By similarity).				steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding	p.N27S(1)		NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						CACCTTGGTGTTGGGGATGTA	0.542													13	83					0	0	1	0	0	C	54118947	T	C	54118947	3	2	135	1	0	0	0	0	1	0	0	0	2595	1725	60	3	2051	3	CALCOCO1	12	54118947	Missense_Mutation	SNP	T	TCGA-G9-6366-01A-11D-2114-08	774817	54118947	79732948	24	6637											
CYP27B1	1594	broad.mit.edu	37	chr12	58159257	58159257	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcggggccaggagactgcGgagcctttgccattcttcgc	6	8	15	12	3	1	1	0	0	1	1	2	4	1	2	3	4	4	0	3	4	0	3			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr12:58159257G>A	ENST00000228606.4	-	3	621	c.412C>T	c.(412-414)Cgc>Tgc	p.R138C	RP11-571M6.13_ENST00000546609.1_RNA|CYP27B1_ENST00000546496.1_5'UTR	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	138					bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)	AGGAGACTGCGGAGCCTTTGC	0.672											OREG0021953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	14					0	0	1	0	0	A	58159257	G	A	58159257	3	1	135	1	0	0	0	0	1	0	0	0	4182	1116	39	1	1142	1	CYP27B1	12	58159257	Missense_Mutation	SNP	G	TCGA-G9-6366-01A-11D-2114-08	4040310	58159257	75692638	25	6638											
UHRF1BP1L	23074	broad.mit.edu	37	chr12	100452768	100452768	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caagagcttcttccgcttcaAtcggccagccagatcactag	10	9	8	14	2	3	2	2	0	1	2	5	2	4	2	3	1	2	2	3	1	3	4			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr12:100452768A>G	ENST00000279907.7	-	14	2499	c.2287T>C	c.(2287-2289)Ttg>Ctg	p.L763L	UHRF1BP1L_ENST00000545232.2_Silent_p.L413L	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	763										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TTCCGCTTCAATCGGCCAGCC	0.408													49	127					0	0	1	0	0	G	100452768	A	G	100452768	2	3	135	1	0	0	0	0	0	0	0	1	17029	98	4	3		3	UHRF1BP1L	12	100452768	Silent	SNP	A	TCGA-G9-6366-01A-11D-2114-08	42293511	100452768	33399127	26	6639											
MYBPC1	4604	broad.mit.edu	37	chr12	102072013	102072013	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcagtgtgagaggaaatccTaaggtaccatgttcttctat	11	13	10	7	0	2	1	0	1	2	1	3	3	3	2	2	2	2	3	2	2	4	5			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr12:102072013T>A	ENST00000549145.1	+	28	3361	c.3261T>A	c.(3259-3261)ccT>ccA	p.P1087P	MYBPC1_ENST00000547509.1_Silent_p.P1042P|MYBPC1_ENST00000547405.1_Silent_p.P1030P|MYBPC1_ENST00000545503.2_Silent_p.P1056P|MYBPC1_ENST00000360610.2_Silent_p.P1074P|MYBPC1_ENST00000541119.1_Silent_p.P1044P|MYBPC1_ENST00000536007.1_Silent_p.P1037P|MYBPC1_ENST00000553190.1_Silent_p.P1056P|MYBPC1_ENST00000452455.2_Silent_p.P1074P|MYBPC1_ENST00000441232.1_Silent_p.P1074P|MYBPC1_ENST00000392934.3_Silent_p.P1043P|MYBPC1_ENST00000551300.1_Silent_p.P957P|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000550270.1_Silent_p.P1074P|MYBPC1_ENST00000361685.2_Silent_p.P1081P|MYBPC1_ENST00000361466.2_Silent_p.P1081P			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	1074	Ig-like C2-type 7.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						GAGGAAATCCTAAGGTACCAT	0.398													53	124					0	0	1	0	0	A	102072013	T	A	102072013	2	1	135	1	0	0	0	0	0	0	0	1	10059	1509	53	5		5	MYBPC1	12	102072013	Silent	SNP	T	TCGA-G9-6366-01A-11D-2114-08	1619245	102072013	31779882	27	6640											
SERPINE3	647174	broad.mit.edu	37	chr13	51918393	51918393	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acttgtttttcacagacaaaAgggtgaaagatttcttgcat	13	14	8	6	0	2	3	1	1	1	2	2	3	2	3	0	1	1	2	0	1	3	5			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr13:51918393A>G	ENST00000524365.1	+	5	887	c.262A>G	c.(262-264)Agg>Ggg	p.R88G	SERPINE3_ENST00000521255.1_Missense_Mutation_p.R88G|SERPINE3_ENST00000400389.4_Missense_Mutation_p.R88G			A8MV23	SERP3_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3	88					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)	2						CACAGACAAAAGGGTGAAAGA	0.488													3	40					0	0	1	0	0	G	51918393	A	G	51918393	3	3	135	1	0	0	0	0	1	0	0	0	14167	63	3	3	268	3	SERPINE3	13	51918393	Missense_Mutation	SNP	A	TCGA-G9-6366-01A-11D-2114-08		51918393	63251485	28	6641											
THTPA	0	broad.mit.edu	37	chr14	24026160	24026160	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggatagtggatgggagctcaAatgtcctggagcagcaggtg	10	8	17	6	0	1	0	1	0	0	0	2	4	2	4	1	5	3	3	1	5	2	1			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr14:24026160A>G	ENST00000288014.6	+	1	930	c.194A>G	c.(193-195)aAa>aGa	p.K65R	THTPA_ENST00000404535.3_Missense_Mutation_p.K65R|THTPA_ENST00000554789.1_Missense_Mutation_p.K65R|THTPA_ENST00000556015.1_Missense_Mutation_p.K65R|RP11-66N24.4_ENST00000555446.1_RNA|RP11-66N24.4_ENST00000556354.1_RNA|THTPA_ENST00000554970.1_Missense_Mutation_p.K65R|RP11-66N24.4_ENST00000553985.1_RNA			Q9BU02	THTPA_HUMAN	thiamine triphosphatase	65					dephosphorylation|generation of precursor metabolites and energy|thiamine metabolic process	cytosol|nucleolus|soluble fraction	thiamin-triphosphatase activity			large_intestine(1)|prostate(2)	3	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00643)	Thiamine(DB00152)	TGGGAGCTCAAATGTCCTGGA	0.572													15	27					0	0	1	0	0	G	24026160	A	G	24026160	3	3	135	1	0	0	0	0	1	0	0	0	15941	14	1	3	196	3	THTPA	14	24026160	Missense_Mutation	SNP	A	TCGA-G9-6366-01A-11D-2114-08		24026160	83323380	29	6642											
SYNE2	23224	broad.mit.edu	37	chr14	64604565	64604565	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaaactctgaacgaaggcAaacagttggtggcgtctgtg	12	8	12	9	2	2	1	0	1	2	0	2	2	2	1	1	3	3	2	1	3	4	1			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr14:64604565A>C	ENST00000357395.3	+	80	15006	c.3862A>C	c.(3862-3864)Aaa>Caa	p.K1288Q	SYNE2_ENST00000344113.4_Missense_Mutation_p.K4903Q|SYNE2_ENST00000555002.1_Missense_Mutation_p.K1537Q|SYNE2_ENST00000554584.1_Missense_Mutation_p.K4820Q|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.K1288Q|SYNE2_ENST00000358025.3_Missense_Mutation_p.K4903Q			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4903					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GAACGAAGGCAAACAGTTGGT	0.408													28	74					0	0	1	0	0	C	64604565	A	C	64604565	3	2	135	1	0	0	0	0	1	0	0	0	15503	131	5	5	15017	5	SYNE2	14	64604565	Missense_Mutation	SNP	A	TCGA-G9-6366-01A-11D-2114-08	40578405	64604565	42744975	30	6643											
UACA	55075	broad.mit.edu	37	chr15	70959376	70959376	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctctctagtctctaattttTttaatgcttgtttagtattc	7	22	4	8	0	2	0	0	0	2	0	5	0	2	0	1	0	1	3	1	0	5	11			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr15:70959376T>C	ENST00000322954.6	-	16	3832	c.3647A>G	c.(3646-3648)aAa>aGa	p.K1216R	UACA_ENST00000560441.1_Missense_Mutation_p.K1201R|UACA_ENST00000539319.1_Missense_Mutation_p.K1107R|UACA_ENST00000379983.2_Missense_Mutation_p.K1203R	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	1216						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						CTCTAATTTTTTTAATGCTTG	0.338													18	61					0	0	1	0	0	C	70959376	T	C	70959376	3	2	135	1	0	0	0	0	1	0	0	0	16885	1841	64	3	619	3	UACA	15	70959376	Missense_Mutation	SNP	T	TCGA-G9-6366-01A-11D-2114-08		70959376	31572016	31	6644											
SSH2	85464	broad.mit.edu	37	chr17	27963805	27963805	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaatgagatctccatagtttGttatgccgctgtttgctgtg	7	16	11	7	1	1	1	0	1	1	1	2	3	1	1	2	0	2	5	2	0	3	4			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr17:27963805G>T	ENST00000269033.3	-	14	1513	c.1362C>A	c.(1360-1362)aaC>aaA	p.N454K	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.N481K	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	454					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCCATAGTTTGTTATGCCGCT	0.448													12	142					5.50884e-06	5.96038e-06	1	1	0	T	27963805	G	T	27963805	3	4	135	1	0	0	0	0	1	0	0	0	15241	1368	48	4	2917	4	SSH2	17	27963805	Missense_Mutation	SNP	G	TCGA-G9-6366-01A-11D-2114-08		27963805	53231405	32	6645											
ERBB2	2064	broad.mit.edu	37	chr17	37881014	37881014	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggtgtgggctccccataTgtctcccgccttctgggcat	3	12	12	14	1	2	0	0	0	2	0	4	0	3	0	4	3	0	3	4	3	1	2			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr17:37881014T>C	ENST00000406381.2	+	22	2763	c.2253T>C	c.(2251-2253)taT>taC	p.Y751Y	ERBB2_ENST00000445658.2_Silent_p.Y505Y|ERBB2_ENST00000584601.1_Silent_p.Y751Y|ERBB2_ENST00000584450.1_Silent_p.Y781Y|ERBB2_ENST00000269571.5_Silent_p.Y781Y|ERBB2_ENST00000541774.1_Silent_p.Y766Y|ERBB2_ENST00000540147.1_Silent_p.Y751Y	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	781	Protein kinase.				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	GCTCCCCATATGTCTCCCGCC	0.597		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)			27	65					0	0	1	0	0	C	37881014	T	C	37881014	2	2	135	1	0	0	0	0	0	0	0	1	5234	1471	51	3		3	ERBB2	17	37881014	Silent	SNP	T	TCGA-G9-6366-01A-11D-2114-08	9917209	37881014	43314196	33	6646											
SOX9	6662	broad.mit.edu	37	chr17	70120224	70120226	+	In_Frame_Del	DEL	AGC	AGC	-																															gagccccagccactacagcgAgcagcagcagcactcgcccc																										TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr17:70120224_70120226delAGC	ENST00000245479.2	+	3	1598_1600	c.1226_1228delAGC	c.(1225-1230)gag>g	p.EQ409del		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	409					cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			CACTACAGCGAGCAGCAGCAGCA	0.65													8	277	---	---	---	---						-	70120226	AGC	-	70120224	7	5	135	1	0	1	0	1	0	0	0	0	15012	304	11	0	1236	0	SOX9	17	70120224	In_Frame_Del	DEL	AGC	TCGA-G9-6366-01A-11D-2114-08	32239210	70120224	11074986	34	6647											
MOCOS	55034	broad.mit.edu	37	chr18	33840082	33840082	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atattattatcaatggaaaaAgggcttttgaagaagagaaa	19	11	9	2	0	1	3	1	1	0	2	1	5	1	4	0	2	0	1	0	2	9	5			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr18:33840082A>G	ENST00000261326.5	+	13	2374	c.2353A>G	c.(2353-2355)Agg>Ggg	p.R785G	MOCOS_ENST00000588132.1_3'UTR	NM_017947.2	NP_060417.2	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	785	MOSC.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	CAATGGAAAAAGGGCTTTTGA	0.393													3	158					0	0	1	0	0	G	33840082	A	G	33840082	3	3	135	1	0	0	0	0	1	0	0	0	9738	63	3	3	2403	3	MOCOS	18	33840082	Missense_Mutation	SNP	A	TCGA-G9-6366-01A-11D-2114-08		33840082	44237166	35	6648											
TYK2	7297	broad.mit.edu	37	chr19	10468472	10468472	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggctctgcagaggggcctCtccgtcaaagcagatctcca	8	7	12	14	2	4	2	1	0	3	2	6	2	4	2	3	3	2	3	3	3	1	0			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr19:10468472C>A	ENST00000525621.1	-	17	2915	c.2434G>T	c.(2434-2436)Gag>Tag	p.E812*	TYK2_ENST00000524462.1_Nonsense_Mutation_p.E627*|TYK2_ENST00000264818.6_Nonsense_Mutation_p.E812*|TYK2_ENST00000529370.1_Nonsense_Mutation_p.E812*	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	812	Protein kinase 1.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			AGAGGGGCCTCTCCGTCAAAG	0.642													10	21					0.000978159	0.00102474	1	1	0	A	10468472	C	A	10468472	4	1	135	1	0	0	0	0	0	1	0	0	16872	922	32	4	1165	4	TYK2	19	10468472	Nonsense_Mutation	SNP	C	TCGA-G9-6366-01A-11D-2114-08		10468472	48660511	36	6649											
ARHGAP33	115703	broad.mit.edu	37	chr19	36275140	36275140	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgggaagttcgggtgcagtcGgtggtggtggagtttctgct	4	12	19	6	3	1	0	0	0	1	0	3	2	1	2	0	6	2	4	0	6	1	2			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr19:36275140G>A	ENST00000007510.4	+	16	1632	c.1488G>A	c.(1486-1488)tcG>tcA	p.S496S	ARHGAP33_ENST00000314737.5_Silent_p.S496S|ARHGAP33_ENST00000378944.5_Silent_p.S360S			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	496	Rho-GAP.				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						GGGTGCAGTCGGTGGTGGTGG	0.672													55	109					0	0	1	0	0	A	36275140	G	A	36275140	2	1	135	1	0	0	0	0	0	0	0	1	879	1103	39	1		1	ARHGAP33	19	36275140	Silent	SNP	G	TCGA-G9-6366-01A-11D-2114-08	25806668	36275140	22853843	37	6650											
LRFN3	79414	broad.mit.edu	37	chr19	36431457	36431457	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcagctggcgaggccacagCtgctgtggagctgactgtgg	6	8	17	10	1	0	1	0	1	0	0	0	3	0	2	1	4	5	5	1	4	0	0			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr19:36431457C>G	ENST00000588831.1	+	3	2184	c.1130C>G	c.(1129-1131)gCt>gGt	p.A377G	LRFN3_ENST00000246529.3_Missense_Mutation_p.A377G			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	377	Ig-like.				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GAGGCCACAGCTGCTGTGGAG	0.662													8	29					0	0	1	0	0	G	36431457	C	G	36431457	3	3	135	1	0	0	0	0	1	0	0	0	8984	797	28	4	1132	4	LRFN3	19	36431457	Missense_Mutation	SNP	C	TCGA-G9-6366-01A-11D-2114-08	156317	36431457	22697526	38	6651											
NINL	22981	broad.mit.edu	37	chr20	25439071	25439071	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccctgaaggctgagcaggCgatgcagctcggccacacgg	8	5	14	14	3	0	2	0	2	0	0	2	3	1	2	2	4	3	4	2	4	1	0			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr20:25439071C>T	ENST00000278886.6	-	22	3864	c.3791G>A	c.(3790-3792)cGc>cAc	p.R1264H	NINL_ENST00000422516.1_Missense_Mutation_p.R915H|NINL_ENST00000464285.1_5'UTR	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1264					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	p.R1264L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GCTGAGCAGGCGATGCAGCTC	0.667													12	42					0	0	1	0	0	T	25439071	C	T	25439071	3	4	135	1	0	0	0	0	1	0	0	0	10467	768	27	1	369	1	NINL	20	25439071	Missense_Mutation	SNP	C	TCGA-G9-6366-01A-11D-2114-08		25439071	37586449	39	6652											
MYT1	4661	broad.mit.edu	37	chr20	62851156	62851156	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctttccccagcagcagcAgctgcagcagcagccccggt	8	6	11	16	1	0	0	0	0	0	0	1	0	1	0	4	1	9	8	4	1	0	1			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr20:62851156A>T	ENST00000536311.1	+	13	2507	c.2143A>T	c.(2143-2145)Agc>Tgc	p.S715C	MYT1_ENST00000328439.1_Missense_Mutation_p.S688C|MYT1_ENST00000360149.4_Missense_Mutation_p.S390C			Q01538	MYT1_HUMAN	myelin transcription factor 1	688	Ser-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					cagcagcagcagctgcagcag	0.602													3	32					0	0	1	0	0	T	62851156	A	T	62851156	3	4	135	1	0	0	0	0	1	0	0	0	10154	188	7	5	2104	5	MYT1	20	62851156	Missense_Mutation	SNP	A	TCGA-G9-6366-01A-11D-2114-08	37412085	62851156	174364	40	6653											
TSSK2	23617	broad.mit.edu	37	chr22	19119476	19119476	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcagcccccgaggtgctgcaGagcatcccctaccagcccaa	9	4	10	18	1	0	1	0	0	0	1	1	2	1	1	6	1	6	4	6	1	2	1			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr22:19119476G>C	ENST00000399635.2	+	1	1156	c.564G>C	c.(562-564)caG>caC	p.Q188H	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	188	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					AGGTGCTGCAGAGCATCCCCT	0.602													34	96					0	0	1	0	0	C	19119476	G	C	19119476	3	2	135	1	0	0	0	0	1	0	0	0	16730	933	33	4	566	4	TSSK2	22	19119476	Missense_Mutation	SNP	G	TCGA-G9-6366-01A-11D-2114-08		19119476	32185090	41	6654											
CABIN1	23523	broad.mit.edu	37	chr22	24460518	24460518	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagacatggagcaggccctGgagaactatgacatctgcac	12	6	13	10	0	1	3	0	1	1	2	1	6	1	4	1	4	3	2	1	4	2	1			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr22:24460518G>A	ENST00000398319.2	+	15	2290	c.1905G>A	c.(1903-1905)ctG>ctA	p.L635L	CABIN1_ENST00000263119.5_Silent_p.L635L|CABIN1_ENST00000405822.2_Silent_p.L585L	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	635					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AGCAGGCCCTGGAGAACTATG	0.532													9	329					0	0	1	0	0	A	24460518	G	A	24460518	2	1	135	1	0	0	0	0	0	0	0	1	2546	1335	47	2		2	CABIN1	22	24460518	Silent	SNP	G	TCGA-G9-6366-01A-11D-2114-08	5341042	24460518	26844048	42	6655											
EP300	2033	broad.mit.edu	37	chr22	41573977	41573977	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggctgcattcatcaagcagCgggctgccaagtatgccaac	10	8	11	12	1	2	0	2	0	0	0	2	0	2	0	2	2	6	5	2	2	4	2			TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chr22:41573977C>T	ENST00000263253.7	+	31	7481	c.6262C>T	c.(6262-6264)Cgg>Tgg	p.R2088W	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2088	Interaction with HTLV-1 Tax.|Interaction with NCOA2.	Interaction with NCOA2.			apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CATCAAGCAGCGGGCTGCCAA	0.602			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome				30	56					0	0	1	0	0	T	41573977	C	T	41573977	3	4	135	1	0	0	0	0	1	0	0	0	5176	759	27	1	6384	1	EP300	22	41573977	Missense_Mutation	SNP	C	TCGA-G9-6366-01A-11D-2114-08	17113459	41573977	9730589	43	6656											
CHIC1	53344	broad.mit.edu	37	chrX	72783280	72783282	+	In_Frame_Del	DEL	GAG	GAG	-																															atgaggaggaagaggaggaaGaggaggaggaggaagaagag																										TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chrX:72783280_72783282delGAG	ENST00000373504.6	+	1	245_247	c.160_162delGAG	c.(160-162)del	p.E68del	CHIC1_ENST00000373502.5_In_Frame_Del_p.E68del			Q5VXU3	CHIC1_HUMAN	cysteine-rich hydrophobic domain 1	68	Poly-Glu.					cytoplasmic membrane-bounded vesicle|plasma membrane				endometrium(1)|large_intestine(1)|lung(2)	4	Renal(35;0.156)					agaggaggaagaggaggaggagg	0.635													4	4	---	---	---	---						-	72783282	GAG	-	72783280	7	5	135	1	0	1	0	1	0	0	0	0	3365	943	33	0	162	0	CHIC1	23	72783280	In_Frame_Del	DEL	GAG	TCGA-G9-6366-01A-11D-2114-08		72783280	82487280	44	6657											
PDZD4	57595	broad.mit.edu	37	chrX	153072793	153072793	+	Frame_Shift_Del	DEL	C	C	-																															gccgccctccataaactccgCcgggtcataatactcatggc																										TCGA-G9-6366-01A-11D-2114-08	TCGA-G9-6366-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0042c94-9802-4593-9dd8-4352538c6bc7	39351351-11d3-499d-8fec-7bf34f38d3c5	g.chrX:153072793delC	ENST00000164640.4	-	3	519	c.328delG	c.(328-330)cgfs	p.A110fs	PDZD4_ENST00000475140.1_5'UTR|PDZD4_ENST00000544474.1_Intron|PDZD4_ENST00000393758.2_Frame_Shift_Del_p.A35fs	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	110						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ATAAACTCCGCCGGGTCATAA	0.667													9	18	---	---	---	---						-	153072793	C	-	153072793	7	5	135	1	0	1	0	1	0	0	0	0	11750	739	26	0	2005	0	PDZD4	23	153072793	Frame_Shift_Del	DEL	C	TCGA-G9-6366-01A-11D-2114-08	80289513	153072793	2197767	45	6658											
RBM15	64783	broad.mit.edu	37	chr1	110884731	110884731	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taaagcaaaagcaggcagccGgggtgatcagcctccctgtg	11	6	13	11	1	1	1	1	1	0	0	2	1	2	1	3	3	4	3	3	3	4	1			TCGA-G9-6367-01A-11D-1786-08	TCGA-G9-6367-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f76a7b4-1889-4550-a4d1-3c3a0d1a526d	993197fc-ba4c-466d-9cc2-e08c74cd8f45	g.chr1:110884731G>C	ENST00000369784.3	+	1	3604	c.2704G>C	c.(2704-2706)Ggg>Cgg	p.G902R	RBM15_ENST00000487146.2_Missense_Mutation_p.G902R|RBM15_ENST00000602849.1_Missense_Mutation_p.G902R	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	902	SPOC.				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding	p.G902R(1)		ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		GCAGGCAGCCGGGGTGATCAG	0.552			T	MKL1	acute megakaryocytic leukemia								7	114					0	0	0.248553	0	0	C	110884731	G	C	110884731	3	2	136	1	0	0	0	0	1	0	0	0	13168	1116	39	4	2706	4	RBM15	1	110884731	Missense_Mutation	SNP	G	TCGA-G9-6367-01A-11D-1786-08		110884731	138365890	1	6659											
LRPPRC	10128	broad.mit.edu	37	chr2	44153050	44153050	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgattatttgcaacacaTctgtcacaaaaccactgaag	15	10	5	11	0	2	2	1	2	1	0	2	2	2	2	2	0	3	1	2	0	5	2			TCGA-G9-6367-01A-11D-1786-08	TCGA-G9-6367-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f76a7b4-1889-4550-a4d1-3c3a0d1a526d	993197fc-ba4c-466d-9cc2-e08c74cd8f45	g.chr2:44153050T>C	ENST00000260665.7	-	26	2844	c.2787A>G	c.(2785-2787)agA>agG	p.R929R		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	929					mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding	p.R929R(1)		breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TTGCAACACATCTGTCACAAA	0.413													6	85					0	0	0.217242	0	0	C	44153050	T	C	44153050	2	2	136	1	0	0	0	0	0	0	0	1	9010	1432	50	3		3	LRPPRC	2	44153050	Silent	SNP	T	TCGA-G9-6367-01A-11D-1786-08		44153050	199046323	2	6660											
NOP58	51602	broad.mit.edu	37	chr2	203149110	203149110	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatagtcctgttgttaatGaacttatgagaggaattcgt	11	15	9	6	1	0	2	0	2	0	1	3	4	2	3	2	1	1	2	2	1	5	5			TCGA-G9-6367-01A-11D-1786-08	TCGA-G9-6367-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f76a7b4-1889-4550-a4d1-3c3a0d1a526d	993197fc-ba4c-466d-9cc2-e08c74cd8f45	g.chr2:203149110G>T	ENST00000264279.5	+	5	566	c.340G>T	c.(340-342)Gaa>Taa	p.E114*	NOP58_ENST00000467734.1_3'UTR	NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein	114					cell growth|rRNA processing|snRNP protein import into nucleus	box C/D snoRNP complex|Cajal body|cytoplasm|pre-snoRNP complex	protein binding|snoRNA binding	p.E114*(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						TGTTGTTAATGAACTTATGAG	0.373													3	46					0.115264	0.138317	0.115264	1	0	T	203149110	G	T	203149110	4	4	136	1	0	0	0	0	0	1	0	0	10587	1291	45	4	358	4	NOP58	2	203149110	Nonsense_Mutation	SNP	G	TCGA-G9-6367-01A-11D-1786-08	158996060	203149110	40050263	3	6661											
ADAMTS2	9509	broad.mit.edu	37	chr5	178555106	178555106	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcagtgagacccgggtgtctCccaccgggatgacctgtgcc	6	8	13	14	2	2	2	1	2	1	1	3	4	2	3	5	2	1	0	5	2	0	0			TCGA-G9-6367-01A-11D-1786-08	TCGA-G9-6367-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f76a7b4-1889-4550-a4d1-3c3a0d1a526d	993197fc-ba4c-466d-9cc2-e08c74cd8f45	g.chr5:178555106C>A	ENST00000251582.7	-	17	2572	c.2471G>T	c.(2470-2472)gGa>gTa	p.G824V		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	824	Spacer.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.G824V(2)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CCGGGTGTCTCCCACCGGGAT	0.577													4	59					0.217242	0.244397	0.217242	1	0	A	178555106	C	A	178555106	3	1	136	1	0	0	0	0	1	0	0	0	264	855	30	4	1188	4	ADAMTS2	5	178555106	Missense_Mutation	SNP	C	TCGA-G9-6367-01A-11D-1786-08		178555106	2360154	4	6662											
COL11A1	1301	broad.mit.edu	37	chr1	103404601	103404601	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaaactcacattttctcccTtgtcacccttgctgcctttt	6	16	5	14	0	3	0	2	0	1	0	4	1	3	1	3	1	3	1	3	1	1	6			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr1:103404601T>G	ENST00000358392.2	-	44	3781	c.3464A>C	c.(3463-3465)aAg>aCg	p.K1155T	COL11A1_ENST00000512756.1_Missense_Mutation_p.K1027T|COL11A1_ENST00000353414.4_Missense_Mutation_p.K1104T|COL11A1_ENST00000370096.3_Missense_Mutation_p.K1143T	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1143	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)		ATTTTCTCCCTTGTCACCCTT	0.338													4	63					0	0	0.014758	0	0	G	103404601	T	G	103404601	3	3	137	1	0	0	0	0	1	0	0	0	3690	1609	56	5	2088	5	COL11A1	1	103404601	Missense_Mutation	SNP	T	TCGA-G9-6369-01A-21D-1961-08		103404601	145846020	1	6663											
OR10J1	26476	broad.mit.edu	37	chr1	159409943	159409943	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcacagcaatgggatatgAccgctatgtggccatctgca	10	9	11	11	1	2	1	1	1	1	0	2	2	2	2	2	2	2	4	2	2	3	2			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr1:159409943A>G	ENST00000423932.3	+	1	432	c.395A>G	c.(394-396)gAc>gGc	p.D132G	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	132					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					ATGGGATATGACCGCTATGTG	0.498													3	130					0	0	0.004672	0	0	G	159409943	A	G	159409943	3	3	137	1	0	0	0	0	1	0	0	0	10958	275	10	3	397	3	OR10J1	1	159409943	Missense_Mutation	SNP	A	TCGA-G9-6369-01A-21D-1961-08	56005342	159409943	89840678	2	6664											
TGFA	7039	broad.mit.edu	37	chr2	70680366	70680366	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttacctgtttctgagtggcaGcaagcggttcttcccttcag	6	14	10	11	1	3	1	1	1	2	0	4	1	4	1	2	2	3	4	2	2	2	5			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr2:70680366G>A	ENST00000295400.6	-	5	706	c.459C>T	c.(457-459)tgC>tgT	p.C153C	TGFA_ENST00000445399.1_Silent_p.C152C|TGFA_ENST00000444975.1_Silent_p.C159C|TGFA_ENST00000450929.1_Silent_p.C158C|TGFA_ENST00000418333.2_Silent_p.C152C	NM_001099691.2|NM_003236.3	NP_001093161.1|NP_003227.1	P01135	TGFA_HUMAN	transforming growth factor, alpha	153					activation of MAPK activity|cell proliferation|positive regulation of cell division|positive regulation of epidermal growth factor receptor activity|positive regulation of epithelial cell proliferation|positive regulation of mitosis	cell surface|extracellular space|integral to membrane|plasma membrane	epidermal growth factor receptor binding|growth factor activity|MAP kinase kinase activity|signal transducer activity			haematopoietic_and_lymphoid_tissue(1)|lung(2)|prostate(1)	4						CTGAGTGGCAGCAAGCGGTTC	0.577													4	171					0	0	0.014758	0	0	A	70680366	G	A	70680366	2	1	137	1	0	0	0	0	0	0	0	1	15875	963	34	2		2	TGFA	2	70680366	Silent	SNP	G	TCGA-G9-6369-01A-21D-1961-08		70680366	172519007	3	6665											
ITGA6	0	broad.mit.edu	37	chr2	173330368	173330368	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccgcccgggggccatgcaCgcggatcgagtttgataacg	8	6	14	13	6	0	1	0	1	0	0	1	3	0	2	3	3	2	2	3	3	1	2			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr2:173330368C>A	ENST00000375221.2	+	2	487	c.284C>A	c.(283-285)aCg>aAg	p.T95K	AC078883.3_ENST00000417539.1_RNA|ITGA6_ENST00000409080.1_Missense_Mutation_p.T95K|ITGA6_ENST00000409532.1_5'UTR|ITGA6_ENST00000264107.7_Missense_Mutation_p.T95K|ITGA6_ENST00000264106.6_Missense_Mutation_p.T95K|ITGA6_ENST00000343713.4_Missense_Mutation_p.T95K|AC078883.3_ENST00000458314.1_RNA			P23229	ITA6_HUMAN	integrin, alpha 6	95					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			GGGCCATGCACGCGGATCGAG	0.622											OREG0015066	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	39	17					6.97489e-18	1.00438e-17	0.074837	1	0	A	173330368	C	A	173330368	3	1	137	1	0	0	0	0	1	0	0	0	7924	536	19	4	290	4	ITGA6	2	173330368	Missense_Mutation	SNP	C	TCGA-G9-6369-01A-21D-1961-08	102650002	173330368	69869005	4	6666											
COL6A3	1293	broad.mit.edu	37	chr2	238243486	238243486	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctcccagtggagtttggcGctgttctctgttatctcaaa	6	15	9	11	1	3	0	1	0	3	0	6	1	3	1	1	2	0	4	1	2	2	3			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr2:238243486G>A	ENST00000295550.4	-	41	9464	c.9012C>T	c.(9010-9012)agC>agT	p.S3004S	COL6A3_ENST00000347401.3_Silent_p.S2803S|COL6A3_ENST00000353578.4_Silent_p.S2798S|COL6A3_ENST00000472056.1_Silent_p.S2397S|COL6A3_ENST00000346358.4_Silent_p.S2804S|COL6A3_ENST00000409809.1_Silent_p.S2798S	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	3004	Fibronectin type-III.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGAGTTTGGCGCTGTTCTCTG	0.483													13	90					0	0	0.020292	0	0	A	238243486	G	A	238243486	2	1	137	1	0	0	0	0	0	0	0	1	3724	1078	38	1		1	COL6A3	2	238243486	Silent	SNP	G	TCGA-G9-6369-01A-21D-1961-08	64913118	238243486	4955887	5	6667											
ROBO1	6091	broad.mit.edu	37	chr3	78667056	78667056	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtttgcatcttggctacCtccatgtcggcttcgtcttc	3	16	9	13	2	2	0	0	0	2	0	6	0	3	0	2	3	2	4	2	3	1	5			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr3:78667056C>T	ENST00000436010.2	-	25	4891	c.3894G>A	c.(3892-3894)gaG>gaA	p.E1298E	ROBO1_ENST00000464233.1_Silent_p.E1337E|ROBO1_ENST00000467549.1_Silent_p.E1237E|ROBO1_ENST00000495273.1_Silent_p.E1292E			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1337					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TCTTGGCTACCTCCATGTCGG	0.547													41	45					0	0	0.042209	0	0	T	78667056	C	T	78667056	2	4	137	1	0	0	0	0	0	0	0	1	13565	680	24	2		2	ROBO1	3	78667056	Silent	SNP	C	TCGA-G9-6369-01A-21D-1961-08		78667056	119355374	6	6668											
SENP7	57337	broad.mit.edu	37	chr3	101047392	101047392	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagtataagaatacatggccTatgaaaagcaaaggacaaaa	21	7	8	5	0	0	2	0	1	0	1	0	3	0	3	1	2	2	2	1	2	11	5			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr3:101047392T>C	ENST00000394095.2	-	22	2849		c.e22-2		SENP7_ENST00000348610.3_Splice_Site|SENP7_ENST00000358203.3_Splice_Site|SENP7_ENST00000394085.3_Splice_Site|SENP7_ENST00000314261.7_Splice_Site|SENP7_ENST00000394094.2_Splice_Site|SENP7_ENST00000394091.1_Splice_Site	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7						proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ATACATGGCCTATGAAAAGCA	0.318													3	173					0	0	0.004672	0	0	C	101047392	T	C	101047392	5	2	137	1	0	0	0	0	0	0	1	0	14105	1536	53	3	370	3	SENP7	3	101047392	Splice_Site	SNP	T	TCGA-G9-6369-01A-21D-1961-08	22380336	101047392	96975038	7	6669											
ATP6V1A	523	broad.mit.edu	37	chr3	113507676	113507676	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aatcatctatgtaggatgtgGtgaaagaggaaatgagatgt	15	11	13	2	0	2	3	1	2	1	2	2	6	2	5	0	3	0	1	0	3	5	2			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr3:113507676G>T	ENST00000273398.3	+	7	941	c.833G>T	c.(832-834)gGt>gTt	p.G278V	ATP6V1A_ENST00000538620.1_Missense_Mutation_p.G245V	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	278					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GTAGGATGTGGTGAAAGAGGA	0.418													37	61					3.38236e-24	4.96999e-24	0.092188	1	0	T	113507676	G	T	113507676	3	4	137	1	0	0	0	0	1	0	0	0	1175	1261	44	4	855	4	ATP6V1A	3	113507676	Missense_Mutation	SNP	G	TCGA-G9-6369-01A-21D-1961-08	12460284	113507676	84514754	8	6670											
MFI2	4241	broad.mit.edu	37	chr3	196744089	196744089	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccactcggtgacatcggccCggctaccatcccggcacagc	7	6	10	18	4	0	1	0	1	0	0	4	1	2	1	4	4	2	2	4	4	1	1			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr3:196744089C>T	ENST00000296350.5	-	7	898	c.785G>A	c.(784-786)cGg>cAg	p.R262Q		NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	262	Transferrin-like 1.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		GACATCGGCCCGGCTACCATC	0.687													10	14					0	0	0.058154	0	0	T	196744089	C	T	196744089	3	4	137	1	0	0	0	0	1	0	0	0	9572	652	23	1	1471	1	MFI2	3	196744089	Missense_Mutation	SNP	C	TCGA-G9-6369-01A-21D-1961-08	83236413	196744089	1278341	9	6671											
TBC1D14	57533	broad.mit.edu	37	chr4	6995922	6995922	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcctaggaatatgaagaCaaggctggaagacctagcaa	15	8	11	7	0	0	3	0	1	0	2	1	5	1	5	2	3	1	2	2	3	8	4			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr4:6995922C>T	ENST00000409757.4	+	4	979	c.855C>T	c.(853-855)gaC>gaT	p.D285D	TBC1D14_ENST00000451522.2_Silent_p.D5D|TBC1D14_ENST00000410031.1_Silent_p.D57D|TBC1D14_ENST00000448507.1_Silent_p.D285D	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	285						intracellular	Rab GTPase activator activity			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						aatatgaagacaaggctggaa	0.458													8	94					0	0	0.038147	0	0	T	6995922	C	T	6995922	2	4	137	1	0	0	0	0	0	0	0	1	15660	477	17	2		2	TBC1D14	4	6995922	Silent	SNP	C	TCGA-G9-6369-01A-21D-1961-08		6995922	184158354	10	6672											
TMPRSS11D	9407	broad.mit.edu	37	chr4	68719844	68719844	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtagctggtgaatttaacTgactattatattcaacattt	12	17	7	5	0	1	2	1	2	0	0	1	2	1	2	0	1	3	2	0	1	7	8			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr4:68719844T>G	ENST00000283916.6	-	3	289	c.191A>C	c.(190-192)cAg>cCg	p.Q64P	TMPRSS11D_ENST00000545541.1_5'UTR|RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000509584.1_5'UTR	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	64	SEA.				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						TGAATTTAACTGACTATTATA	0.303													6	79					0	0	0.021553	0	0	G	68719844	T	G	68719844	3	3	137	1	0	0	0	0	1	0	0	0	16301	1580	55	5	1097	5	TMPRSS11D	4	68719844	Missense_Mutation	SNP	T	TCGA-G9-6369-01A-21D-1961-08	61723922	68719844	122434432	11	6673											
ATOH1	474	broad.mit.edu	37	chr4	94750645	94750645	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaatgttatcccgtcgttcAacaacgacaagaagctgtcc	12	9	8	12	3	1	1	1	0	0	1	4	2	3	1	2	0	3	4	2	0	6	2			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr4:94750645A>G	ENST00000306011.3	+	1	604	c.568A>G	c.(568-570)Aac>Gac	p.N190D		NM_005172.1	NP_005163.1	Q92858	ATOH1_HUMAN	atonal homolog 1 (Drosophila)	190	Helix-loop-helix motif.				transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		CCCGTCGTTCAACAACGACAA	0.577													31	39					0	0	0.037714	0	0	G	94750645	A	G	94750645	3	3	137	1	0	0	0	0	1	0	0	0	1111	130	5	3	570	3	ATOH1	4	94750645	Missense_Mutation	SNP	A	TCGA-G9-6369-01A-21D-1961-08	26030801	94750645	96403631	12	6674											
MEF2C	4208	broad.mit.edu	37	chr5	88027604	88027604	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaactcggagatctggtttaCggttattcattcctaaattc	10	15	8	8	2	2	1	1	0	1	1	5	3	3	1	1	3	2	2	1	3	5	7			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr5:88027604C>T	ENST00000504921.2	-	7	1424	c.752G>A	c.(751-753)cGt>cAt	p.R251H	MEF2C_ENST00000514015.1_Missense_Mutation_p.R251H|MEF2C_ENST00000510942.1_Missense_Mutation_p.R251H|MEF2C_ENST00000508569.1_Missense_Mutation_p.R251H|MEF2C_ENST00000424173.2_Missense_Mutation_p.R249H|MEF2C_ENST00000437473.2_Missense_Mutation_p.R251H|MEF2C_ENST00000340208.5_Missense_Mutation_p.R269H|MEF2C_ENST00000539796.1_Missense_Mutation_p.R203H|MEF2C_ENST00000514028.1_Missense_Mutation_p.R251H|MEF2C_ENST00000506554.1_Missense_Mutation_p.R251H			Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	251					apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		ATCTGGTTTACGGTTATTCAT	0.388										HNSCC(66;0.2)			19	30					0	0	0.062417	0	0	T	88027604	C	T	88027604	3	4	137	1	0	0	0	0	1	0	0	0	9507	536	19	1	689	1	MEF2C	5	88027604	Missense_Mutation	SNP	C	TCGA-G9-6369-01A-21D-1961-08		88027604	92887656	13	6675											
SPINK1	6690	broad.mit.edu	37	chr5	147204248	147204250	+	In_Frame_Del	DEL	GAG	GAG	-																															caaggcccagatttttgaatGaggatagaagtctggcgttt																										TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr5:147204248_147204250delGAG	ENST00000296695.5	-	4	422_424	c.214_216delCTC	c.(214-216)del	p.L72del		NM_003122.3	NP_003113.2	P00995	ISK1_HUMAN	serine peptidase inhibitor, Kazal type 1	72	Kazal-like.					extracellular region	protein binding|serine-type endopeptidase inhibitor activity			endometrium(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTTTTGAATGAGGATAGAAGTC	0.399									Hereditary Pancreatitis				8	85	---	---	---	---						-	147204250	GAG	-	147204248	7	5	137	1	0	1	0	1	0	0	0	0	15113	1277	45	0	27	0	SPINK1	5	147204248	In_Frame_Del	DEL	GAG	TCGA-G9-6369-01A-21D-1961-08	59176644	147204248	33711012	14	6676											
TNXB	7148	broad.mit.edu	37	chr6	32053654	32053654	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcggacgtcccctggcagCacttcctcatgtgcccccgg	4	8	12	17	3	1	0	1	0	0	0	3	1	3	1	5	4	2	2	5	4	0	1			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr6:32053654C>A	ENST00000375244.3	-	7	3222	c.3021G>T	c.(3019-3021)gtG>gtT	p.V1007V	TNXB_ENST00000375247.2_Silent_p.V1007V			P22105	TENX_HUMAN	tenascin XB	1094	Fibronectin type-III 2.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCCCTGGCAGCACTTCCTCAT	0.682													5	109					0.000602214	0.000788353	0.014758	1	0	A	32053654	C	A	32053654	2	1	137	1	0	0	0	0	0	0	0	1	16406	697	25	4		4	TNXB	6	32053654	Silent	SNP	C	TCGA-G9-6369-01A-21D-1961-08		32053654	139061413	15	6677											
SOBP	55084	broad.mit.edu	37	chr6	107824969	107824969	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggagctaccctacagatgggGagagccggcagcacatttct	10	7	13	11	1	1	2	0	0	1	2	1	4	1	3	2	4	5	3	2	4	2	3			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr6:107824969G>A	ENST00000317357.5	+	2	864	c.205G>A	c.(205-207)Gag>Aag	p.E69K		NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog (Drosophila)	69							metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		TACAGATGGGGAGAGCCGGCA	0.403													6	94					0	0	0.02938	0	0	A	107824969	G	A	107824969	3	1	137	1	0	0	0	0	1	0	0	0	14966	1175	41	2	211	2	SOBP	6	107824969	Missense_Mutation	SNP	G	TCGA-G9-6369-01A-21D-1961-08	75771315	107824969	63290098	16	6678											
INTS1	26173	broad.mit.edu	37	chr7	1542704	1542704	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactggacaacgcggccgccGcatcccgcttgcgctcagaa	8	5	11	17	6	1	1	1	0	0	1	2	2	2	2	3	2	2	3	3	2	2	1			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr7:1542704G>A	ENST00000389470.4	-	4	565	c.566C>T	c.(565-567)gCg>gTg	p.A189V	INTS1_ENST00000404767.3_Missense_Mutation_p.A61V			Q8N201	INT1_HUMAN	integrator complex subunit 1	61					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CGCGGCCGCCGCATCCCGCTT	0.657													5	110					0	0	0.014758	0	0	A	1542704	G	A	1542704	3	1	137	1	0	0	0	0	1	0	0	0	7819	1087	38	1	6574	1	INTS1	7	1542704	Missense_Mutation	SNP	G	TCGA-G9-6369-01A-21D-1961-08		1542704	157595959	17	6679											
RP9	6100	broad.mit.edu	37	chr7	33138944	33138944	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ataactttgacttctttcccCagtggcatccaaagtccttt	9	15	5	12	0	1	1	0	1	1	0	4	1	4	1	4	1	1	1	4	1	2	5			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr7:33138944C>T	ENST00000297157.3	-	3	305	c.288G>A	c.(286-288)ctG>ctA	p.L96L		NM_203288.1	NP_976033.1	Q8TA86	RP9_HUMAN	retinitis pigmentosa 9 (autosomal dominant)	96	PIM1-binding (By similarity).				RNA splicing	nucleus	nucleic acid binding|protein binding|zinc ion binding			large_intestine(3)|lung(3)|urinary_tract(1)	7			GBM - Glioblastoma multiforme(11;0.0403)			CTTCTTTCCCCAGTGGCATCC	0.428													4	151					0	0	0.014758	0	0	T	33138944	C	T	33138944	2	4	137	1	0	0	0	0	0	0	0	1	13587	581	21	2		2	RP9	7	33138944	Silent	SNP	C	TCGA-G9-6369-01A-21D-1961-08	31596240	33138944	125999719	18	6680											
ARHGEF10	9639	broad.mit.edu	37	chr8	1844605	1844605	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaaagcccgcttttcttgAatttttaaaggtaagcgctt	11	14	7	9	2	1	1	0	1	1	0	1	1	1	1	1	1	2	3	1	1	5	8			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr8:1844605A>C	ENST00000518288.1	+	15	1785	c.1622A>C	c.(1621-1623)gAa>gCa	p.E541A	ARHGEF10_ENST00000520359.1_Missense_Mutation_p.E478A|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.E541A|ARHGEF10_ENST00000398564.1_Missense_Mutation_p.E541A|ARHGEF10_ENST00000398560.1_Missense_Mutation_p.E502A|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.E516A			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	541	DH.				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		GCTTTTCTTGAATTTTTAAAG	0.388													4	82					0	0	0.009096	0	0	C	1844605	A	C	1844605	3	2	137	1	0	0	0	0	1	0	0	0	891	246	9	5	1597	5	ARHGEF10	8	1844605	Missense_Mutation	SNP	A	TCGA-G9-6369-01A-21D-1961-08		1844605	144519417	19	6681											
PDE7A	5150	broad.mit.edu	37	chr8	66753620	66753620	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gattacctgagagagctgccGgggattggggcagccgaaga	10	6	17	8	2	0	3	0	1	0	2	0	7	0	4	3	4	4	2	3	4	2	2			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr8:66753620G>A	ENST00000401827.3	-	1	567	c.124C>T	c.(124-126)Cgg>Tgg	p.R42W	PDE7A_ENST00000396642.3_Missense_Mutation_p.R42W	NM_001242318.2	NP_001229247.1	Q13946	PDE7A_HUMAN	phosphodiesterase 7A	42						cell fraction|cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10			Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Dyphylline(DB00651)|Ketotifen(DB00920)	GAGAGCTGCCGGGGATTGGGG	0.657													17	32					0	0	0.043863	0	0	A	66753620	G	A	66753620	3	1	137	1	0	0	0	0	1	0	0	0	11698	1115	39	1	1472	1	PDE7A	8	66753620	Missense_Mutation	SNP	G	TCGA-G9-6369-01A-21D-1961-08	64909015	66753620	79610402	20	6682											
ZFPM2	23414	broad.mit.edu	37	chr8	106813420	106813420	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgatgtaatcactgccatttCggcttccagactcagaggga	10	10	10	11	2	2	2	2	0	0	2	4	4	3	3	2	2	1	2	2	2	1	3			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr8:106813420C>T	ENST00000407775.2	+	8	1360	c.1110C>T	c.(1108-1110)ttC>ttT	p.F370F	ZFPM2_ENST00000378472.4_Silent_p.F101F|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000520492.1_Silent_p.F238F|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000517361.1_Silent_p.F238F|RP11-152P17.2_ENST00000520594.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	370					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			ACTGCCATTTCGGCTTCCAGA	0.512													9	196					0	0	0.069234	0	0	T	106813420	C	T	106813420	2	4	137	1	0	0	0	0	0	0	0	1	17716	883	31	1		1	ZFPM2	8	106813420	Silent	SNP	C	TCGA-G9-6369-01A-21D-1961-08	40059800	106813420	39550602	21	6683											
UBAP2	55833	broad.mit.edu	37	chr9	33989021	33989021	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tccggttgttgtttccacgtCcacgactcgattctttctcg	4	16	8	13	5	2	0	0	0	2	0	7	2	5	0	3	1	0	3	3	1	0	5			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr9:33989021C>T	ENST00000379238.1	-	5	509	c.392G>A	c.(391-393)gGa>gAa	p.G131E	UBAP2_ENST00000360802.1_Missense_Mutation_p.G131E|UBAP2_ENST00000449054.1_Missense_Mutation_p.G131E|UBAP2_ENST00000418786.2_Missense_Mutation_p.G131E|UBAP2_ENST00000379239.4_5'UTR|UBAP2_ENST00000539807.1_Intron			Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	131										endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		GTTTCCACGTCCACGACTCGA	0.403													6	183					0	0	0.02938	0	0	T	33989021	C	T	33989021	3	4	137	1	0	0	0	0	1	0	0	0	16898	855	30	2	3067	2	UBAP2	9	33989021	Missense_Mutation	SNP	C	TCGA-G9-6369-01A-21D-1961-08		33989021	107224410	22	6684											
APBA1	320	broad.mit.edu	37	chr9	72131395	72131395	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcggggctgtcggactcGccgtcggagcgctcgtcgta	3	10	15	13	8	1	0	0	0	1	0	7	2	1	2	1	4	1	3	1	4	1	2			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr9:72131395G>A	ENST00000265381.4	-	2	954	c.732C>T	c.(730-732)ggC>ggT	p.G244G		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	244	Munc-18-1 binding.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						TGTCGGACTCGCCGTCGGAGC	0.701													24	23					0	0	0.099896	0	0	A	72131395	G	A	72131395	2	1	137	1	0	0	0	0	0	0	0	1	752	1074	38	1		1	APBA1	9	72131395	Silent	SNP	G	TCGA-G9-6369-01A-21D-1961-08	38142374	72131395	69082036	23	6685											
KIN	22944	broad.mit.edu	37	chr10	7808017	7808017	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actccaactgaatacttacaGgctgtagccagtagtctgtt	11	12	8	10	0	1	1	0	1	1	0	2	1	2	1	2	1	4	4	2	1	6	5			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr10:7808017G>T	ENST00000379562.3	-	9	895	c.849_splice	c.e9+1	p.P283_splice	KIN_ENST00000463666.1_5'UTR|KIN_ENST00000535925.1_Splice_Site_p.P283_splice|KIN_ENST00000543003.1_Splice_Site_p.P177_splice			O60870	KIN17_HUMAN	KIN, antigenic determinant of recA protein homolog (mouse)	283					DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	double-stranded DNA binding|RNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						AATACTTACAGGCTGTAGCCA	0.328													11	42					6.42651e-13	8.89825e-13	0.080935	1	0	T	7808017	G	T	7808017	5	4	137	1	0	0	0	0	0	0	1	0	8358	1014	35	4	353	4	KIN	10	7808017	Splice_Site	SNP	G	TCGA-G9-6369-01A-21D-1961-08		7808017	127726730	24	6686											
WAPAL	23063	broad.mit.edu	37	chr10	88232463	88232463	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttatcactttggatggtggtGcaggagccttaaaaactcca	11	12	10	8	0	1	0	1	0	0	0	2	2	2	2	2	4	3	1	2	4	4	3			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr10:88232463G>A	ENST00000298767.5	-	6	2271	c.1799C>T	c.(1798-1800)gCa>gTa	p.A600V		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	600	Mediates interaction with the cohesin complex.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						GGATGGTGGTGCAGGAGCCTT	0.358													36	28					0	0	0.080422	0	0	A	88232463	G	A	88232463	3	1	137	1	0	0	0	0	1	0	0	0	17308	1319	46	2	1829	2	WAPAL	10	88232463	Missense_Mutation	SNP	G	TCGA-G9-6369-01A-21D-1961-08	80424446	88232463	47302284	25	6687											
CC2D2B	387707	broad.mit.edu	37	chr10	97779073	97779076	+	Frame_Shift_Del	DEL	TTGT	TTGT	-																															tgtcccttaaaaagtgtagaTtgtttgtttgatgatagaaa																										TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr10:97779073_97779076delTTGT	ENST00000344386.3	+	7	800_803	c.636_639delTTGT	c.(634-639)gafs	p.DC212fs	RP11-690P14.4_ENST00000475252.2_Intron|ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|CC2D2B_ENST00000371198.2_Intron|ENTPD1-AS1_ENST00000458228.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|CC2D2B_ENST00000410012.2_Frame_Shift_Del_p.DC212fs	NM_001001732.3	NP_001001732.2	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B	212										large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		AAAGTGTAGATTGTTTGTTTGATG	0.363													9	130	---	---	---	---						-	97779076	TTGT	-	97779073	7	5	137	1	0	1	0	1	0	0	0	0	2747	1490	52	0	658	0	CC2D2B	10	97779073	Frame_Shift_Del	DEL	TTGT	TCGA-G9-6369-01A-21D-1961-08	9546610	97779073	37755674	26	6688											
LRP4	4038	broad.mit.edu	37	chr11	46889635	46889635	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttttcactcatgccagtaGccctaggagctggtggtacc	7	12	10	12	0	3	0	2	0	1	0	3	1	3	1	3	3	4	3	3	3	3	5			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr11:46889635G>C	ENST00000378623.1	-	34	5224	c.4982C>G	c.(4981-4983)gCt>gGt	p.A1661G	LRP4-AS1_ENST00000531719.1_RNA|LRP4-AS1_ENST00000502049.2_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1661					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CATGCCAGTAGCCCTAGGAGC	0.537													4	85					0	0	0.009096	0	0	C	46889635	G	C	46889635	3	2	137	1	0	0	0	0	1	0	0	0	9004	971	34	4	755	4	LRP4	11	46889635	Missense_Mutation	SNP	G	TCGA-G9-6369-01A-21D-1961-08		46889635	88116881	27	6689											
FAT3	120114	broad.mit.edu	37	chr11	92533470	92533470	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgattttgaccggttggaaTatagcattttatctgggaat	10	16	10	5	1	1	2	0	2	1	0	1	4	1	4	1	3	1	2	1	3	5	7			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr11:92533470T>C	ENST00000298047.6	+	9	7308	c.7291T>C	c.(7291-7293)Tat>Cat	p.Y2431H	FAT3_ENST00000409404.2_Missense_Mutation_p.Y2431H|FAT3_ENST00000525166.1_Missense_Mutation_p.Y2281H			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2431	Cadherin 22.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCGGTTGGAATATAGCATTTT	0.478										TCGA Ovarian(4;0.039)			45	60					0	0	0.048971	0	0	C	92533470	T	C	92533470	3	2	137	1	0	0	0	0	1	0	0	0	5724	1406	49	3	7325	3	FAT3	11	92533470	Missense_Mutation	SNP	T	TCGA-G9-6369-01A-21D-1961-08	45643835	92533470	42473046	28	6690											
DIP2B	57609	broad.mit.edu	37	chr12	51138473	51138473	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tagtgaccaacgtggtcctgGaagagcattacctcatcgtt	10	11	10	10	2	1	2	1	1	0	1	3	3	2	3	3	2	3	2	3	2	4	3			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr12:51138473G>T	ENST00000301180.5	+	38	4616	c.4582G>T	c.(4582-4584)Gaa>Taa	p.E1528*		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1528						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						CGTGGTCCTGGAAGAGCATTA	0.547													16	55					6.72482e-11	9.13561e-11	0.024245	1	0	T	51138473	G	T	51138473	4	4	137	1	0	0	0	0	0	1	0	0	4556	1175	41	4	4732	4	DIP2B	12	51138473	Nonsense_Mutation	SNP	G	TCGA-G9-6369-01A-21D-1961-08		51138473	82713422	29	6691											
GLI1	2735	broad.mit.edu	37	chr12	57864192	57864192	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctgcctatactgtcagcCgccgctcctccctggcctct	3	11	8	19	2	3	0	1	0	2	0	5	0	5	0	6	1	3	2	6	1	2	2			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr12:57864192C>T	ENST00000228682.2	+	12	1760	c.1669C>T	c.(1669-1671)Cgc>Tgc	p.R557C	GLI1_ENST00000546141.1_Missense_Mutation_p.R516C|GLI1_ENST00000543426.1_Missense_Mutation_p.R429C	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	557					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			TACTGTCAGCCGCCGCTCCTC	0.647													43	74					0	0	0.045515	0	0	T	57864192	C	T	57864192	3	4	137	1	0	0	0	0	1	0	0	0	6479	652	23	1	1711	1	GLI1	12	57864192	Missense_Mutation	SNP	C	TCGA-G9-6369-01A-21D-1961-08	6725719	57864192	75987703	30	6692											
CDK17	5128	broad.mit.edu	37	chr12	96677410	96677410	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgttatcaactcaattcCttcagagtctaacctagaaa	13	15	4	9	0	4	2	3	0	1	2	5	2	5	2	2	0	2	1	2	0	6	7			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr12:96677410C>T	ENST00000261211.3	-	14	1939	c.1336G>A	c.(1336-1338)Gga>Aga	p.G446R	CDK17_ENST00000543119.2_Missense_Mutation_p.G446R|CDK17_ENST00000542666.1_Missense_Mutation_p.G393R	NM_001170464.2|NM_002595.4	NP_001163935.1|NP_002586.2	Q00537	CDK17_HUMAN	cyclin-dependent kinase 17	446	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						AACTCAATTCCTTCAGAGTCT	0.313													6	95					0	0	0.021553	0	0	T	96677410	C	T	96677410	3	4	137	1	0	0	0	0	1	0	0	0	3155	690	24	2	289	2	CDK17	12	96677410	Missense_Mutation	SNP	C	TCGA-G9-6369-01A-21D-1961-08	38813218	96677410	37174485	31	6693											
DGKH	160851	broad.mit.edu	37	chr13	42742922	42742922	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttcctcagatcctagagaaActggaacgagccagtaccaa	14	7	8	12	1	1	2	1	0	0	2	3	5	3	3	4	1	4	1	4	1	5	3			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr13:42742922A>G	ENST00000379274.2	+	11	1356	c.927A>G	c.(925-927)aaA>aaG	p.K309K	DGKH_ENST00000538674.1_Silent_p.K200K|DGKH_ENST00000536612.1_Silent_p.K309K|DGKH_ENST00000337343.4_Silent_p.K445K|DGKH_ENST00000540693.1_Silent_p.K445K|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000261491.4_Silent_p.K445K			Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	445					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		TCCTAGAGAAACTGGAACGAG	0.423													37	15					0	0	0.074837	0	0	G	42742922	A	G	42742922	2	3	137	1	0	0	0	0	0	0	0	1	4498	40	2	3		3	DGKH	13	42742922	Silent	SNP	A	TCGA-G9-6369-01A-21D-1961-08		42742922	72426956	32	6694											
INSM2	0	broad.mit.edu	37	chr14	36003785	36003785	+	Frame_Shift_Del	DEL	C	C	-																															gggcccagccccagccccagCcccagtccagcgaagccggc																										TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr14:36003785delC	ENST00000307169.3	+	1	538	c.327delC	c.(325-327)agfs	p.S109fs		NM_032594.3	NP_115983.3	Q96T92	INSM2_HUMAN	insulinoma-associated 2	109					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	10	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)		ccagccccagccccagtccAG	0.781													3	5	---	---	---	---						-	36003785	C	-	36003785	7	5	137	1	0	1	0	1	0	0	0	0	7816	738	26	0	329	0	INSM2	14	36003785	Frame_Shift_Del	DEL	C	TCGA-G9-6369-01A-21D-1961-08		36003785	71345755	33	6695											
CDC42BPB	9578	broad.mit.edu	37	chr14	103442221	103442221	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagccggcgctgccctcaccTtgcagcttcctgctcagctc	4	9	10	18	2	2	0	2	0	0	0	4	1	3	0	4	1	6	5	4	1	0	2			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr14:103442221T>G	ENST00000361246.2	-	10	1674	c.1387_splice	c.e10+1	p.Q462_splice		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	462					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TGCCCTCACCTTGCAGCTTCC	0.662													8	128					0	0	0.038147	0	0	G	103442221	T	G	103442221	5	3	137	1	0	0	0	0	0	0	1	0	3095	1623	56	5	3861	5	CDC42BPB	14	103442221	Splice_Site	SNP	T	TCGA-G9-6369-01A-21D-1961-08	67438436	103442221	3907319	34	6696											
RLBP1	6017	broad.mit.edu	37	chr15	89760395	89760395	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacgttgaacttccgtgcgCggatgaagcgcaggaagaag	11	6	14	10	5	0	3	0	2	0	1	1	5	1	5	2	2	3	2	2	2	4	2			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr15:89760395C>T	ENST00000268125.5	-	5	741	c.302G>A	c.(301-303)cGc>cAc	p.R101H		NM_000326.4	NP_000317.1	P12271	RLBP1_HUMAN	retinaldehyde binding protein 1	101					response to stimulus|visual perception|vitamin A metabolic process	cytoplasm|soluble fraction	retinol binding|transporter activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1)	18	Lung NSC(78;0.0472)|all_lung(78;0.089)				Vitamin A(DB00162)	CTTCCGTGCGCGGATGAAGCG	0.667													22	35					0	0	0.062417	0	0	T	89760395	C	T	89760395	3	4	137	1	0	0	0	0	1	0	0	0	13440	768	27	1	671	1	RLBP1	15	89760395	Missense_Mutation	SNP	C	TCGA-G9-6369-01A-21D-1961-08		89760395	12770997	35	6697											
SEC14L5	9717	broad.mit.edu	37	chr16	5038269	5038269	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgtggtggtgaacgagcaCtgcagctacacggtgagccc	8	6	15	12	4	0	2	0	2	0	0	0	3	0	2	1	3	6	3	1	3	2	1			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr16:5038269C>G	ENST00000251170.7	+	4	513	c.333C>G	c.(331-333)caC>caG	p.H111Q		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	111	PRELI/MSF1.					integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						TGAACGAGCACTGCAGCTACA	0.632													10	31					0	0	0.069234	0	0	G	5038269	C	G	5038269	3	3	137	1	0	0	0	0	1	0	0	0	14039	564	20	4	343	4	SEC14L5	16	5038269	Missense_Mutation	SNP	C	TCGA-G9-6369-01A-21D-1961-08		5038269	85316484	36	6698											
OTOA	146183	broad.mit.edu	37	chr16	21726417	21726417	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcaggtcctgagaagtgccGtctcccagtatgtatccgac	8	9	11	13	3	1	1	0	1	1	1	4	3	3	1	4	1	1	3	4	1	3	2			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr16:21726417G>A	ENST00000388958.3	+	13	1433	c.1432G>A	c.(1432-1434)Gtc>Atc	p.V478I	OTOA_ENST00000388956.4_Missense_Mutation_p.V399I|OTOA_ENST00000286149.4_Missense_Mutation_p.V492I|OTOA_ENST00000388957.3_Missense_Mutation_p.V154I	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	492					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		p.V478I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		GAGAAGTGCCGTCTCCCAGTA	0.577													18	252					0	0	0.055883	0	0	A	21726417	G	A	21726417	3	1	137	1	0	0	0	0	1	0	0	0	11349	1145	40	1	1528	1	OTOA	16	21726417	Missense_Mutation	SNP	G	TCGA-G9-6369-01A-21D-1961-08	16688148	21726417	68628336	37	6699											
TRPV2	51393	broad.mit.edu	37	chr17	16321003	16321003	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgacctcaccctccagctcTccagttttcaggttggagac	8	11	8	14	0	3	2	2	1	1	1	5	3	4	2	4	2	1	3	4	2	0	3			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr17:16321003T>C	ENST00000338560.7	+	2	420	c.21T>C	c.(19-21)tcT>tcC	p.S7S	TRPV2_ENST00000577397.1_5'UTR	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	7	Required for interaction with SLC50A1 (By similarity).				sensory perception	integral to plasma membrane|melanosome	calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CCTCCAGCTCTCCAGTTTTCA	0.577													3	76					0	0	0.004672	0	0	C	16321003	T	C	16321003	2	2	137	1	0	0	0	0	0	0	0	1	16657	1538	54	3		3	TRPV2	17	16321003	Silent	SNP	T	TCGA-G9-6369-01A-21D-1961-08		16321003	64874207	38	6700											
TCAP	8557	broad.mit.edu	37	chr17	37821715	37821715	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgacactgtccacacggcccGaggaggggtgagtgtgggtc	7	7	17	10	2	0	2	0	2	0	0	2	4	1	3	2	5	0	0	2	5	0	0			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr17:37821715G>A	ENST00000309889.2	+	1	1276	c.103G>A	c.(103-105)Gag>Aag	p.E35K	TCAP_ENST00000578283.1_Missense_Mutation_p.E35K			O15273	TELT_HUMAN	titin-cap	35					adult heart development|cardiac muscle contraction|cardiac muscle fiber development|cardiac muscle tissue morphogenesis|detection of mechanical stimulus|muscle filament sliding|response to stress|sarcomere organization|skeletal muscle contraction|skeletal muscle myosin thick filament assembly|skeletal muscle thin filament assembly	cytosol|Z disc	structural constituent of muscle|titin binding|titin Z domain binding			kidney(1)|lung(1)	2	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CACACGGCCCGAGGAGGGGTG	0.617													29	43					0	0	0.037714	0	0	A	37821715	G	A	37821715	3	1	137	1	0	0	0	0	1	0	0	0	15726	1059	37	1	105	1	TCAP	17	37821715	Missense_Mutation	SNP	G	TCGA-G9-6369-01A-21D-1961-08	21500712	37821715	43373495	39	6701											
SPOP	8405	broad.mit.edu	37	chr17	47696432	47696432	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgaatttcttgaatccccAgtctttgccttgcacaaacc	10	13	6	12	0	2	2	0	2	2	0	3	3	3	2	4	0	3	1	4	0	3	4			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr17:47696432A>C	ENST00000393331.3	-	7	861	c.391T>G	c.(391-393)Tgg>Ggg	p.W131G	SPOP_ENST00000393328.2_Missense_Mutation_p.W131G|SPOP_ENST00000347630.2_Missense_Mutation_p.W131G|SPOP_ENST00000504102.1_Missense_Mutation_p.W131G|SPOP_ENST00000503676.1_Missense_Mutation_p.W131G	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	131	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.W131G(2)|p.W131R(1)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TTGAATCCCCAGTCTTTGCCT	0.458										Prostate(2;0.17)			79	106					0	0	0.048971	0	0	C	47696432	A	C	47696432	3	2	137	1	0	0	0	0	1	0	0	0	15140	188	7	5	757	5	SPOP	17	47696432	Missense_Mutation	SNP	A	TCGA-G9-6369-01A-21D-1961-08	9874717	47696432	33498778	40	6702											
PTPN2	5771	broad.mit.edu	37	chr18	12802000	12802000	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcctccattgtatcttgcaTtttagaggaaagtcctgtac	9	15	7	10	0	1	1	0	0	1	1	4	2	4	2	3	1	2	3	3	1	4	6			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr18:12802000T>C	ENST00000309660.5	-	8	1102	c.1009A>G	c.(1009-1011)Atg>Gtg	p.M337V	PTPN2_ENST00000591497.1_Missense_Mutation_p.M308V|PTPN2_ENST00000353319.4_Missense_Mutation_p.M337V|PTPN2_ENST00000591115.1_Missense_Mutation_p.M360V|PTPN2_ENST00000327283.3_Missense_Mutation_p.M337V	NM_002828.3	NP_002819.2	P17706	PTN2_HUMAN	protein tyrosine phosphatase, non-receptor type 2	337					interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway	endoplasmic reticulum|nucleoplasm	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3)	13		Lung NSC(161;8.94e-06)				GTATCTTGCATTTTAGAGGAA	0.348													122	110					0	0	0.048971	0	0	C	12802000	T	C	12802000	3	2	137	1	0	0	0	0	1	0	0	0	12835	1493	52	3	272	3	PTPN2	18	12802000	Missense_Mutation	SNP	T	TCGA-G9-6369-01A-21D-1961-08		12802000	65275248	41	6703											
LILRA3	0	broad.mit.edu	37	chr19	54802486	54802486	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgctgggctcctcacctgTgatcaggatgtccagggggt	5	9	14	13	1	2	1	2	1	0	0	4	2	4	2	4	4	0	2	4	4	0	0			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr19:54802486T>C	ENST00000391745.1	-	9	1322	c.1006A>G	c.(1006-1008)Aca>Gca	p.T336A	LILRA3_ENST00000251390.3_Missense_Mutation_p.T319A|LILRA3_ENST00000391744.3_Missense_Mutation_p.T255A					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3											NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCCTCACCTGTGATCAGGATG	0.682													3	45					0	0	0.014758	0	0	C	54802486	T	C	54802486	3	2	137	1	0	0	0	0	1	0	0	0	8826	1696	59	3	376	3	LILRA3	19	54802486	Missense_Mutation	SNP	T	TCGA-G9-6369-01A-21D-1961-08		54802486	4326497	42	6704											
SYNJ1	8867	broad.mit.edu	37	chr21	34067407	34067407	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggcaacatgaccatcatcaTttgttccccggacattaaac	12	11	6	12	1	2	1	2	1	0	0	3	2	3	2	3	2	2	2	3	2	3	3			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr21:34067407T>G	ENST00000382499.2	-	5	781	c.782A>C	c.(781-783)aAt>aCt	p.N261T	SYNJ1_ENST00000382491.3_Missense_Mutation_p.N222T|SYNJ1_ENST00000357345.3_Missense_Mutation_p.N222T|SYNJ1_ENST00000322229.7_Missense_Mutation_p.N222T|SYNJ1_ENST00000433931.2_Missense_Mutation_p.N261T	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	222	SAC.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						ACCATCATCATTTGTTCCCCG	0.358													48	80					0	0	0.048971	0	0	G	34067407	T	G	34067407	3	3	137	1	0	0	0	0	1	0	0	0	15509	1493	52	5	4202	5	SYNJ1	21	34067407	Missense_Mutation	SNP	T	TCGA-G9-6369-01A-21D-1961-08		34067407	14062488	43	6705											
EFHC2	80258	broad.mit.edu	37	chrX	44171919	44171919	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagtggttctccacctatTccaggcttttcatcactcac	9	13	6	13	0	4	1	3	0	1	1	6	1	5	1	3	2	0	2	3	2	2	5			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chrX:44171919T>C	ENST00000420999.1	-	2	209	c.126A>G	c.(124-126)ggA>ggG	p.G42G		NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	42							calcium ion binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						CTCCACCTATTCCAGGCTTTT	0.418													24	2					0	0	0.076483	0	0	C	44171919	T	C	44171919	2	2	137	1	0	0	0	0	0	0	0	1	4973	1770	62	3		3	EFHC2	23	44171919	Silent	SNP	T	TCGA-G9-6369-01A-21D-1961-08		44171919	111098641	44	6706											
NECAP2	55707	broad.mit.edu	37	chr1	16778446	16778446	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaacctccaccctgatcccTccccctggggagcagttggc	8	7	9	17	0	0	1	0	1	0	0	3	2	3	2	6	3	2	2	6	3	2	1			TCGA-G9-6370-01A-11D-1786-08	TCGA-G9-6370-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9689cb33-8ac9-4ee5-800d-3900769988af	8b44f615-8f5d-4c2d-8c8b-8d48de8db586	g.chr1:16778446T>C	ENST00000337132.5	+	6	693	c.603T>C	c.(601-603)ccT>ccC	p.P201P	NECAP2_ENST00000443980.2_Silent_p.P201P|NECAP2_ENST00000504551.2_Silent_p.P140P|NECAP2_ENST00000406746.1_Silent_p.P201P|NECAP2_ENST00000457722.2_Silent_p.P175P	NM_001145278.1|NM_018090.4	NP_001138750.1|NP_060560.1	Q9NVZ3	NECP2_HUMAN	NECAP endocytosis associated 2	201					endocytosis|protein transport	clathrin vesicle coat|coated pit|plasma membrane		p.P201P(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		CCCTGATCCCTCCCCCTGGGG	0.647													3	83					0	0	0.014758	0	0	C	16778446	T	C	16778446	2	2	138	1	0	0	0	0	0	0	0	1	10355	1538	54	3		3	NECAP2	1	16778446	Silent	SNP	T	TCGA-G9-6370-01A-11D-1786-08		16778446	232472175	1	6707											
IL1RAP	0	broad.mit.edu	37	chr3	190345113	190345113	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttggttttttttttcaggAgaggagctactcattccctg	6	19	9	7	0	2	1	2	0	0	1	3	3	3	2	1	3	2	2	1	3	1	9			TCGA-G9-6370-01A-11D-1786-08	TCGA-G9-6370-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9689cb33-8ac9-4ee5-800d-3900769988af	8b44f615-8f5d-4c2d-8c8b-8d48de8db586	g.chr3:190345113A>G	ENST00000412504.2	+	7	1029	c.775_splice	c.e7-1	p.G259_splice	IL1RAP_ENST00000439062.1_Splice_Site_p.G259_splice|IL1RAP_ENST00000443369.2_Splice_Site_p.G259_splice|IL1RAP_ENST00000434491.1_Splice_Site_p.G118_splice|IL1RAP_ENST00000447382.1_Splice_Site_p.G259_splice|IL1RAP_ENST00000317757.3_Splice_Site_p.G259_splice|IL1RAP_ENST00000422940.1_Splice_Site_p.G259_splice|IL1RAP_ENST00000072516.3_Splice_Site_p.G259_splice|IL1RAP_ENST00000422485.1_Splice_Site_p.G259_splice			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	259	Ig-like C2-type 3.				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane		p.G259G(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		tttttTCAGGAGAGGAGCTAC	0.323													3	44					0	0	0.014758	0	0	G	190345113	A	G	190345113	5	3	138	1	0	0	0	0	0	0	1	0	7704	318	11	3	799	3	IL1RAP	3	190345113	Splice_Site	SNP	A	TCGA-G9-6370-01A-11D-1786-08		190345113	7677317	2	6708											
HERC5	51191	broad.mit.edu	37	chr4	89415467	89415467	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagacttgaaagaactcaGtcctgatttgggaaagtaag	15	9	12	5	0	1	4	1	2	0	2	2	6	2	6	1	2	1	1	1	2	5	3			TCGA-G9-6370-01A-11D-1786-08	TCGA-G9-6370-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9689cb33-8ac9-4ee5-800d-3900769988af	8b44f615-8f5d-4c2d-8c8b-8d48de8db586	g.chr4:89415467G>T	ENST00000264350.3	+	18	2582	c.2429G>T	c.(2428-2430)aGt>aTt	p.S810I	HERC5_ENST00000508159.1_Missense_Mutation_p.S448I	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	810	HECT.				innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity	p.S810I(2)|p.S810T(1)		NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		AAAGAACTCAGTCCTGATTTG	0.383													3	60					0.004672	0.00509673	0.004672	1	0	T	89415467	G	T	89415467	3	4	138	1	0	0	0	0	1	0	0	0	7102	1029	36	4	2499	4	HERC5	4	89415467	Missense_Mutation	SNP	G	TCGA-G9-6370-01A-11D-1786-08		89415467	101738809	3	6709											
RABGAP1	23637	broad.mit.edu	37	chr9	125860018	125860018	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcatatcttaaatgtttcAggctgaggaaaaggcagatg	14	10	11	6	0	2	2	1	1	1	1	2	3	2	3	0	3	1	4	0	3	5	3			TCGA-G9-6370-01A-11D-1786-08	TCGA-G9-6370-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9689cb33-8ac9-4ee5-800d-3900769988af	8b44f615-8f5d-4c2d-8c8b-8d48de8db586	g.chr9:125860018A>G	ENST00000373647.4	+	22	2762		c.e22-1		RABGAP1_ENST00000373643.5_Splice_Site	NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1						cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding	p.?(2)		breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						TAAATGTTTCAGGCTGAGGAA	0.403													3	73					0	0	0.004672	0	0	G	125860018	A	G	125860018	5	3	138	1	0	0	0	0	0	0	1	0	13016	202	7	3	2709	3	RABGAP1	9	125860018	Splice_Site	SNP	A	TCGA-G9-6370-01A-11D-1786-08		125860018	15353413	4	6710											
OR10P1	121130	broad.mit.edu	37	chr12	56031094	56031094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttccaccctcttgagcccacGggcctgcatggccatggtgg	5	9	12	15	1	1	1	0	1	1	0	2	1	2	1	5	4	2	1	5	4	0	2			TCGA-G9-6370-01A-11D-1786-08	TCGA-G9-6370-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9689cb33-8ac9-4ee5-800d-3900769988af	8b44f615-8f5d-4c2d-8c8b-8d48de8db586	g.chr12:56031094G>A	ENST00000309675.2	+	1	451	c.419G>A	c.(418-420)cGg>cAg	p.R140Q		NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P, member 1	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R140Q(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						TTGAGCCCACGGGCCTGCATG	0.617													7	69					0	0	0.02938	0	0	A	56031094	G	A	56031094	3	1	138	1	0	0	0	0	1	0	0	0	10963	1116	39	1	421	1	OR10P1	12	56031094	Missense_Mutation	SNP	G	TCGA-G9-6370-01A-11D-1786-08		56031094	77820801	5	6711											
LACTB	114294	broad.mit.edu	37	chr15	63421818	63421818	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctgacgactgtgcaggaaGaaaacgagccagtgatttac	13	8	12	8	2	0	3	0	2	0	1	0	6	0	4	1	1	5	2	1	1	4	2			TCGA-G9-6370-01A-11D-1786-08	TCGA-G9-6370-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9689cb33-8ac9-4ee5-800d-3900769988af	8b44f615-8f5d-4c2d-8c8b-8d48de8db586	g.chr15:63421818G>A	ENST00000413507.2	+	5	1126	c.1087G>A	c.(1087-1089)Gaa>Aaa	p.E363K	RPS27L_ENST00000559763.1_Intron|LACTB_ENST00000261893.4_Missense_Mutation_p.E363K	NM_171846.2	NP_741982.1	P83111	LACTB_HUMAN	lactamase, beta	363						mitochondrion	hydrolase activity	p.E363K(1)		NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						TGTGCAGGAAGAAAACGAGCC	0.373													4	60					0	0	0.02938	0	0	A	63421818	G	A	63421818	3	1	138	1	0	0	0	0	1	0	0	0	8636	943	33	2	1105	2	LACTB	15	63421818	Missense_Mutation	SNP	G	TCGA-G9-6370-01A-11D-1786-08		63421818	39109574	6	6712											
PHKA2	5256	broad.mit.edu	37	chrX	18929061	18929061	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggcacttagaactttagtcgGcaaagtcatgggaacaactg	13	9	11	8	1	1	1	1	0	0	1	2	2	1	2	0	3	3	2	0	3	6	3			TCGA-G9-6370-01A-11D-1786-08	TCGA-G9-6370-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9689cb33-8ac9-4ee5-800d-3900769988af	8b44f615-8f5d-4c2d-8c8b-8d48de8db586	g.chrX:18929061G>A	ENST00000379942.4	-	20	2820	c.2155C>T	c.(2155-2157)Ccg>Tcg	p.P719S		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	719					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					ACTTTAGTCGGCAAAGTCATG	0.363													4	76					0	0	0.009096	0	0	A	18929061	G	A	18929061	3	1	138	1	0	0	0	0	1	0	0	0	11892	1203	42	2	1608	2	PHKA2	23	18929061	Missense_Mutation	SNP	G	TCGA-G9-6370-01A-11D-1786-08		18929061	136341499	7	6713											
NTNG1	22854	broad.mit.edu	37	chr1	107691217	107691217	+	Translation_Start_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattacaaagaatttagagaTgtatttgtcaagattcctgt	14	15	8	4	0	1	3	1	0	0	3	2	5	2	3	1	0	1	1	1	0	6	6			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr1:107691217T>C	ENST00000370067.1	+	2	629	c.2T>C	c.(1-3)aTg>aCg	p.M1T	NTNG1_ENST00000370073.2_Start_Codon_SNP_p.M1T|NTNG1_ENST00000370070.2_Start_Codon_SNP_p.M1T|NTNG1_ENST00000542803.1_Start_Codon_SNP_p.M1T|NTNG1_ENST00000370072.3_Start_Codon_SNP_p.M1T|NTNG1_ENST00000370065.1_Start_Codon_SNP_p.M1T|NTNG1_ENST00000370074.4_Start_Codon_SNP_p.M1T|NTNG1_ENST00000370061.3_Start_Codon_SNP_p.M1T|NTNG1_ENST00000370071.2_Start_Codon_SNP_p.M1T|NTNG1_ENST00000370068.1_Start_Codon_SNP_p.M1T|NTNG1_ENST00000370066.1_Start_Codon_SNP_p.M1T			Q9Y2I2	NTNG1_HUMAN	netrin G1	1					axonogenesis	anchored to plasma membrane	protein binding	p.M1T(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		AATTTAGAGATGTATTTGTCA	0.378													3	106					0	0	0.115264	0	0	C	107691217	T	C	107691217	1	2	139	1	0	0	0	0	0	0	0	0	10752	1464	51	3		3	NTNG1	1	107691217	Translation_Start_Site	SNP	T	TCGA-G9-6371-01A-11D-1786-08		107691217	141559404	1	6714											
TMCC2	9911	broad.mit.edu	37	chr1	205238670	205238670	+	Frame_Shift_Del	DEL	A	A	-																															caacatcgcccacctgaaggAccccctggaagatgggcccc																										TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr1:205238670delA	ENST00000358024.3	+	3	1729	c.1340delA	c.(1339-1341)gcfs	p.D447fs	TMCC2_ENST00000329800.7_Frame_Shift_Del_p.D207fs|TMCC2_ENST00000330675.7_Frame_Shift_Del_p.D222fs|TMCC2_ENST00000545499.1_Frame_Shift_Del_p.D369fs|TMCC2_ENST00000495538.1_3'UTR	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	447						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CACCTGAAGGACCCCCTGGAA	0.642													7	104	---	---	---	---						-	205238670	A	-	205238670	7	5	139	1	0	1	0	1	0	0	0	0	16053	275	10	0	1350	0	TMCC2	1	205238670	Frame_Shift_Del	DEL	A	TCGA-G9-6371-01A-11D-1786-08	97547453	205238670	44011951	2	6715											
ABCB10	23456	broad.mit.edu	37	chr1	229666037	229666037	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgccgtgacagatcctgaCggaatggaaaggctgaaatc	13	7	13	8	2	0	4	0	3	0	1	2	6	1	6	2	3	1	1	2	3	3	0	rs140426197	byFrequency	TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr1:229666037C>T	ENST00000344517.4	-	8	1596	c.1554G>A	c.(1552-1554)ccG>ccA	p.P518P		NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	518	ABC transporter.					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity	p.P518P(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				CAGATCCTGACGGAATGGAAA	0.507													11	131					0	0	0.069234	0	0	T	229666037	C	T	229666037	2	4	139	1	0	0	0	0	0	0	0	1	41	523	19	1		1	ABCB10	1	229666037	Silent	SNP	C	TCGA-G9-6371-01A-11D-1786-08	24427367	229666037	19584584	3	6716											
RYR2	6262	broad.mit.edu	37	chr1	237870322	237870322	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagaaactcatggaagaaatCgtggaattagccgagtccgg	14	7	13	7	3	1	2	1	0	0	2	3	6	2	4	2	3	2	0	2	3	5	1			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr1:237870322C>T	ENST00000366574.2	+	68	9971	c.9654C>T	c.(9652-9654)atC>atT	p.I3218I	RYR2_ENST00000360064.6_Silent_p.I3216I|RYR2_ENST00000542537.1_Silent_p.I3202I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3218					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.I3216I(1)|p.I3218I(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGGAAGAAATCGTGGAATTAG	0.453													11	153					0	0	0.080935	0	0	T	237870322	C	T	237870322	2	4	139	1	0	0	0	0	0	0	0	1	13821	874	31	1		1	RYR2	1	237870322	Silent	SNP	C	TCGA-G9-6371-01A-11D-1786-08	8204285	237870322	11380299	4	6717											
NLRP3	114548	broad.mit.edu	37	chr1	247587215	247587215	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgaagacaggaatgcccGtctgggtgagagtgtgagcc	10	8	15	8	1	1	4	0	3	1	2	1	6	1	5	2	2	2	0	2	2	2	1			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr1:247587215G>A	ENST00000366497.2	+	4	1250	c.470G>A	c.(469-471)cGt>cAt	p.R157H	NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Missense_Mutation_p.R157H|NLRP3_ENST00000336119.3_Missense_Mutation_p.R157H|NLRP3_ENST00000391827.2_Missense_Mutation_p.R157H|NLRP3_ENST00000348069.2_Missense_Mutation_p.R157H|NLRP3_ENST00000366496.2_Missense_Mutation_p.R157H	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	157					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.R157H(2)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			AGGAATGCCCGTCTGGGTGAG	0.522													5	34					0	0	0.014758	0	0	A	247587215	G	A	247587215	3	1	139	1	0	0	0	0	1	0	0	0	10525	1145	40	1	480	1	NLRP3	1	247587215	Missense_Mutation	SNP	G	TCGA-G9-6371-01A-11D-1786-08	9716893	247587215	1663406	5	6718											
POTEF	728378	broad.mit.edu	37	chr2	130832500	130832500	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agagtccatcacgatgccagTagtacggccagaggtgtaca	12	7	12	10	2	1	2	1	0	0	2	2	3	2	2	3	2	3	3	3	2	3	3			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr2:130832500T>C	ENST00000357462.5	-	15	2638	c.2545A>G	c.(2545-2547)Act>Gct	p.T849A	POTEF_ENST00000409914.2_Missense_Mutation_p.T849A			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	849	Actin-like.					cell cortex	ATP binding	p.T849A(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						ACGATGCCAGTAGTACGGCCA	0.602													20	188					0	0	0.069288	0	0	C	130832500	T	C	130832500	3	2	139	1	0	0	0	0	1	0	0	0	12312	1638	57	3	686	3	POTEF	2	130832500	Missense_Mutation	SNP	T	TCGA-G9-6371-01A-11D-1786-08		130832500	112366873	6	6719											
FARSB	10056	broad.mit.edu	37	chr2	223507640	223507640	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatatctattggcagggaCgtcaattttgtaaagaacaa	15	12	8	6	1	3	1	2	0	1	1	3	2	3	2	0	2	1	2	0	2	7	6	rs139085353	by1000genomes	TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr2:223507640C>T	ENST00000281828.6	-	3	462	c.199G>A	c.(199-201)Gtc>Atc	p.V67I	FARSB_ENST00000536361.1_5'UTR	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	67					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding	p.V67I(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	TTGGCAGGGACGTCAATTTTG	0.388													13	27					0	0	0.132662	0	0	T	223507640	C	T	223507640	3	4	139	1	0	0	0	0	1	0	0	0	5713	536	19	1	1630	1	FARSB	2	223507640	Missense_Mutation	SNP	C	TCGA-G9-6371-01A-11D-1786-08	92675140	223507640	19691733	7	6720											
IFT57	55081	broad.mit.edu	37	chr3	107885800	107885800	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgatcttttccaaagtcctAgtaatttcattatggagttt	10	18	6	7	0	2	1	1	1	1	0	4	2	4	2	2	1	0	2	2	1	4	7	rs143767161		TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr3:107885800A>G	ENST00000264538.3	-	8	1129	c.882T>C	c.(880-882)acT>acC	p.T294T	IFT57_ENST00000468021.1_5'UTR	NM_018010.3	NP_060480.1	Q9NWB7	IFT57_HUMAN	intraflagellar transport 57 homolog (Chlamydomonas)	294					activation of caspase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cilium|microtubule basal body	DNA binding|protein binding	p.T294T(1)		kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	14			OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)			CCAAAGTCCTAGTAATTTCAT	0.358													9	26					0	0	0.058154	0	0	G	107885800	A	G	107885800	2	3	139	1	0	0	0	0	0	0	0	1	7606	407	15	3		3	IFT57	3	107885800	Silent	SNP	A	TCGA-G9-6371-01A-11D-1786-08		107885800	90136630	8	6721											
ZNF131	7690	broad.mit.edu	37	chr5	43139402	43139402	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctagaagctatcaaagcccTtgaagtcaggtacttaattt	13	12	8	8	0	2	2	2	1	0	1	2	2	2	2	1	1	3	3	1	1	7	6			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr5:43139402T>G	ENST00000509634.1	+	3	818	c.362T>G	c.(361-363)cTt>cGt	p.L121R	ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000306938.4_Missense_Mutation_p.L121R|ZNF131_ENST00000505606.2_Missense_Mutation_p.L121R|ZNF131_ENST00000509156.1_Missense_Mutation_p.L121R|ZNF131_ENST00000399534.1_Missense_Mutation_p.L121R			P52739	ZN131_HUMAN	zinc finger protein 131	121						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L121R(1)		breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						ATCAAAGCCCTTGAAGTCAGG	0.358													3	67					0	0	0.115264	0	0	G	43139402	T	G	43139402	3	3	139	1	0	0	0	0	1	0	0	0	17779	1609	56	5	372	5	ZNF131	5	43139402	Missense_Mutation	SNP	T	TCGA-G9-6371-01A-11D-1786-08		43139402	137775858	9	6722											
APBB3	10307	broad.mit.edu	37	chr5	139939911	139939911	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactcaccatacaggcagccTgcacagcttcagagagtccc	11	6	9	15	0	2	1	2	0	0	1	3	3	3	1	3	1	4	3	3	1	1	2			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr5:139939911T>A	ENST00000357560.4	-	12	1654	c.1211A>T	c.(1210-1212)cAg>cTg	p.Q404L	APBB3_ENST00000354402.5_Missense_Mutation_p.Q411L|APBB3_ENST00000508496.2_Missense_Mutation_p.Q181L|APBB3_ENST00000358580.5_3'UTR|APBB3_ENST00000356738.2_Missense_Mutation_p.Q409L|APBB3_ENST00000412920.3_Missense_Mutation_p.Q402L	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3	404	PID 2.					actin cytoskeleton|cytoplasm		p.Q411L(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGGCAGCCTGCACAGCTTC	0.617													3	64					0	0	0.115264	0	0	A	139939911	T	A	139939911	3	1	139	1	0	0	0	0	1	0	0	0	758	1580	55	5	257	5	APBB3	5	139939911	Missense_Mutation	SNP	T	TCGA-G9-6371-01A-11D-1786-08	96800509	139939911	40975349	10	6723											
PCDHAC1	0	broad.mit.edu	37	chr5	140307487	140307487	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gactgacgtgaacgatcatgCccccgaactggacttcctga	10	8	10	13	3	1	3	1	3	0	0	2	7	2	4	3	1	3	0	3	1	2	1			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr5:140307487C>T	ENST00000253807.2	+	1	1010	c.1010C>T	c.(1009-1011)gCc>gTc	p.A337V	PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.A337V|PCDHA13_ENST00000289272.2_Intron	NM_018898.3	NP_061721.2												p.A337V(1)		NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACGATCATGCCCCCGAACTG	0.532													5	186					0	0	0.038147	0	0	T	140307487	C	T	140307487	3	4	139	1	0	0	0	0	1	0	0	0	11579	739	26	2	1012	2	PCDHAC1	5	140307487	Missense_Mutation	SNP	C	TCGA-G9-6371-01A-11D-1786-08	367576	140307487	40607773	11	6724											
UIMC1	51720	broad.mit.edu	37	chr5	176396017	176396017	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtccccgctaccctggaCagctttgagaaaagcagaac	11	8	10	12	1	0	2	0	1	0	2	1	4	1	3	3	1	4	3	3	1	4	2			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr5:176396017C>A	ENST00000377219.2	-	6	905	c.739G>T	c.(739-741)Gtc>Ttc	p.V247F	UIMC1_ENST00000377227.4_Missense_Mutation_p.V247F|UIMC1_ENST00000506128.1_Intron|UIMC1_ENST00000511320.1_Missense_Mutation_p.V247F	NM_016290.4	NP_057374.3	Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	247				V -> C (in Ref. 3; AAG59851).	double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent	BRCA1-A complex	histone binding|K63-linked polyubiquitin binding	p.V247F(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTACCCTGGACAGCTTTGAGA	0.527													6	145					3.59834e-05	4.318e-05	0.021553	1	0	A	176396017	C	A	176396017	3	1	139	1	0	0	0	0	1	0	0	0	17031	478	17	4	1460	4	UIMC1	5	176396017	Missense_Mutation	SNP	C	TCGA-G9-6371-01A-11D-1786-08	36088530	176396017	4519243	12	6725											
EXOC2	55770	broad.mit.edu	37	chr6	491185	491185	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcacagatttcaagtctcGcctgaaaatgagaaaaagac	18	7	8	8	1	2	4	1	2	1	3	3	5	2	4	1	0	1	1	1	0	6	1			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr6:491185G>A	ENST00000230449.4	-	26	2696	c.2559_splice	c.e26-1	p.A854_splice	EXOC2_ENST00000448181.3_Splice_Site_p.A449_splice	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	854					exocytosis|protein transport			p.A854V(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		TTCAAGTCTCGCCTGAAAATG	0.393													28	130					0	0	0.116897	0	0	A	491185	G	A	491185	5	1	139	1	0	0	0	0	0	0	1	0	5329	1101	38	1	225	1	EXOC2	6	491185	Splice_Site	SNP	G	TCGA-G9-6371-01A-11D-1786-08		491185	170623882	13	6726											
TUBB2B	347733	broad.mit.edu	37	chr6	3226894	3226894	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccatgctcatcactgatgaCctcccaaaactgagacagaa	14	7	6	14	0	2	4	2	3	0	2	3	5	3	4	3	0	2	1	3	0	3	0			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr6:3226894C>A	ENST00000259818.7	-	2	258	c.67G>T	c.(67-69)Gtc>Ttc	p.V23F	TUBB2B_ENST00000473006.1_5'UTR	NM_178012.4	NP_821080.1	Q9BVA1	TBB2B_HUMAN	tubulin, beta 2B class IIb	23					'de novo' posttranslational protein folding|microtubule-based movement|neuron migration|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	p.V23F(1)		kidney(2)|large_intestine(5)|lung(1)|prostate(1)|skin(1)	10	Ovarian(93;0.0386)	all_hematologic(90;0.108)				TCACTGATGACCTCCCAAAAC	0.498													15	158					2.31682e-05	2.82363e-05	0.132662	1	0	A	3226894	C	A	3226894	3	1	139	1	0	0	0	0	1	0	0	0	16817	507	18	4	1282	4	TUBB2B	6	3226894	Missense_Mutation	SNP	C	TCGA-G9-6371-01A-11D-1786-08	2735709	3226894	167888173	14	6727											
PGM3	5238	broad.mit.edu	37	chr6	83898366	83898366	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caataactacaaaggcatctTgttgcagattcacagcttct	13	12	6	10	0	3	1	1	0	2	1	3	1	3	1	0	1	4	4	0	1	4	6			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr6:83898366T>A	ENST00000513973.1	-	3	472	c.356A>T	c.(355-357)cAa>cTa	p.Q119L	PGM3_ENST00000512866.1_Missense_Mutation_p.Q119L|PGM3_ENST00000506587.1_Missense_Mutation_p.Q147L|PGM3_ENST00000283977.4_Missense_Mutation_p.Q38L	NM_001199918.1|NM_015599.2	NP_001186847.1|NP_056414.1	O95394	AGM1_HUMAN	phosphoglucomutase 3	119					dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity	p.Q119L(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	18		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)		AAAGGCATCTTGTTGCAGATT	0.398													5	81					0	0	0.038147	0	0	A	83898366	T	A	83898366	3	1	139	1	0	0	0	0	1	0	0	0	11848	1812	63	5	1316	5	PGM3	6	83898366	Missense_Mutation	SNP	T	TCGA-G9-6371-01A-11D-1786-08	80671472	83898366	87216701	15	6728											
HGF	3082	broad.mit.edu	37	chr7	81346562	81346562	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttacaacgagaaatagggCaataatcccaaggaatgagt	18	7	9	7	1	0	2	0	1	0	1	1	4	1	3	1	2	2	1	1	2	8	3			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr7:81346562C>T	ENST00000222390.5	-	11	1617	c.1391G>A	c.(1390-1392)tGc>tAc	p.C464Y	HGF_ENST00000457544.2_Missense_Mutation_p.C459Y	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	464	Kringle 4.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	p.C464Y(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						AGAAATAGGGCAATAATCCCA	0.383													8	72					0	0	0.047766	0	0	T	81346562	C	T	81346562	3	4	139	1	0	0	0	0	1	0	0	0	7126	710	25	2	827	2	HGF	7	81346562	Missense_Mutation	SNP	C	TCGA-G9-6371-01A-11D-1786-08		81346562	77792101	16	6729											
HIPK2	28996	broad.mit.edu	37	chr7	139268747	139268747	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggtgttgctggaggagtcGgagtagggggagtcgtggac	6	9	21	5	2	0	0	0	0	0	0	2	5	0	5	0	7	1	3	0	7	1	2			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr7:139268747G>A	ENST00000406875.3	-	13	2875	c.2781C>T	c.(2779-2781)tcC>tcT	p.S927S	HIPK2_ENST00000342645.6_Silent_p.S827S|HIPK2_ENST00000428878.2_Silent_p.S900S	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	927	Interaction with TP53 and TP73.|Required for localization to nuclear speckles (By similarity).				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding	p.S927S(1)		breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					TGGAGGAGTCGGAGTAGGGGG	0.547													4	87					0	0	0.009096	0	0	A	139268747	G	A	139268747	2	1	139	1	0	0	0	0	0	0	0	1	7158	1103	39	1		1	HIPK2	7	139268747	Silent	SNP	G	TCGA-G9-6371-01A-11D-1786-08	57922185	139268747	19869916	17	6730											
MGAM	8972	broad.mit.edu	37	chr7	141752697	141752697	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatctccttaaagtcttcCgtttatgccaatgccttccc	8	14	5	14	1	2	0	0	0	2	0	5	1	4	0	5	0	2	1	5	0	4	5			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr7:141752697C>T	ENST00000475668.2	+	26	3126	c.3072C>T	c.(3070-3072)tcC>tcT	p.S1024S	MGAM_ENST00000549489.2_Silent_p.S1024S			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1024					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.S1024S(4)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TAAAGTCTTCCGTTTATGCCA	0.468													7	112					0	0	0.038147	0	0	T	141752697	C	T	141752697	2	4	139	1	0	0	0	0	0	0	0	1	9591	639	23	1		1	MGAM	7	141752697	Silent	SNP	C	TCGA-G9-6371-01A-11D-1786-08	2483950	141752697	17385966	18	6731											
SLC4A2	6522	broad.mit.edu	37	chr7	150773232	150773232	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcacagtgccgctccgcatgGtggtgctcacccgtatcttc	5	11	10	15	3	3	0	2	0	1	0	5	0	4	0	3	2	2	4	3	2	1	2			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr7:150773232G>A	ENST00000485713.1	+	22	4644	c.3604G>A	c.(3604-3606)Gtg>Atg	p.V1202M	SLC4A2_ENST00000310317.5_Missense_Mutation_p.V1120M|SLC4A2_ENST00000413384.2_Missense_Mutation_p.V1202M|RP11-148K1.12_ENST00000485974.1_RNA|SLC4A2_ENST00000461735.1_Missense_Mutation_p.V1188M|SLC4A2_ENST00000392826.2_Missense_Mutation_p.V1193M	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	1202	Membrane (anion exchange).				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity	p.V1202M(1)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCTCCGCATGGTGGTGCTCAC	0.627													6	137					0	0	0.02938	0	0	A	150773232	G	A	150773232	3	1	139	1	0	0	0	0	1	0	0	0	14709	1261	44	2	3686	2	SLC4A2	7	150773232	Missense_Mutation	SNP	G	TCGA-G9-6371-01A-11D-1786-08	9020535	150773232	8365431	19	6732											
CPXM2	119587	broad.mit.edu	37	chr10	125530493	125530493	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tacagcttcaggccctggtgGctttttccaatgttgtaaat	8	15	9	9	0	1	0	1	0	0	0	2	0	2	0	2	3	2	4	2	3	4	6			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr10:125530493G>T	ENST00000241305.3	-	8	1195	c.1041C>A	c.(1039-1041)agC>agA	p.S347R	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	347					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	p.S347R(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GGCCCTGGTGGCTTTTTCCAA	0.458													45	284					3.68427e-32	4.87073e-32	0.117977	1	0	T	125530493	G	T	125530493	3	4	139	1	0	0	0	0	1	0	0	0	3861	1194	42	4	1257	4	CPXM2	10	125530493	Missense_Mutation	SNP	G	TCGA-G9-6371-01A-11D-1786-08		125530493	10004254	20	6733											
OR5L2	26338	broad.mit.edu	37	chr11	55595260	55595260	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctctcctaagtcttgcttGctctgatgtcactgtgaatg	6	15	8	12	0	4	2	1	2	3	0	5	2	4	2	2	0	2	2	2	0	2	3			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr11:55595260G>T	ENST00000378397.1	+	1	566	c.566G>T	c.(565-567)tGc>tTc	p.C189F		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C189F(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				AGTCTTGCTTGCTCTGATGTC	0.448										HNSCC(27;0.073)			54	117					6.32628e-17	8.22416e-17	0.139131	1	0	T	55595260	G	T	55595260	3	4	139	1	0	0	0	0	1	0	0	0	11218	1319	46	4	568	4	OR5L2	11	55595260	Missense_Mutation	SNP	G	TCGA-G9-6371-01A-11D-1786-08		55595260	79411256	21	6734											
USP2	9099	broad.mit.edu	37	chr11	119243942	119243942	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttaccacccccagtgatgtcGggtctcagcagggggcggcc	6	7	14	14	2	1	1	1	1	1	0	3	1	1	1	4	4	2	1	4	4	1	1			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr11:119243942G>A	ENST00000260187.2	-	2	543	c.249C>T	c.(247-249)ccC>ccT	p.P83P	RP11-334E6.3_ENST00000530918.2_RNA|USP2_ENST00000455332.2_Intron	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	83	Necessary for interaction with MDM4.				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity	p.P83P(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		CAGTGATGTCGGGTCTCAGCA	0.667													6	150					0	0	0.021553	0	0	A	119243942	G	A	119243942	2	1	139	1	0	0	0	0	0	0	0	1	17111	1103	39	1		1	USP2	11	119243942	Silent	SNP	G	TCGA-G9-6371-01A-11D-1786-08	63648682	119243942	15762574	22	6735											
KDM5A	5927	broad.mit.edu	37	chr12	417035	417035	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctcacactgtagcataaacCcactggctgtcttgcggcaa	10	9	9	13	1	2	0	1	0	1	0	2	0	2	0	1	2	3	5	1	2	4	3			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr12:417035C>A	ENST00000399788.2	-	23	3877	c.3515G>T	c.(3514-3516)gGg>gTg	p.G1172V	KDM5A_ENST00000382815.4_Missense_Mutation_p.G1172V	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1172					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G1172V(2)		NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TAGCATAAACCCACTGGCTGT	0.463			T	NUP98	AML								11	137					6.40141e-05	7.5653e-05	0.080935	1	0	A	417035	C	A	417035	3	1	139	1	0	0	0	0	1	0	0	0	8176	623	22	4	1581	4	KDM5A	12	417035	Missense_Mutation	SNP	C	TCGA-G9-6371-01A-11D-1786-08		417035	133434860	23	6736											
SLC24A6	0	broad.mit.edu	37	chr12	113748079	113748079	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggctgtcagatgtggcaaaaAaggtcactgaagccaaggct	13	7	13	8	0	2	2	2	1	0	1	2	2	2	2	1	4	1	3	1	4	5	0			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr12:113748079A>C	ENST00000552014.1	-	13	1732	c.1217T>G	c.(1216-1218)tTt>tGt	p.F406C	SLC24A6_ENST00000202831.3_Missense_Mutation_p.F406C|SLC24A6_ENST00000553238.1_5'UTR|SLC24A6_ENST00000546737.1_Missense_Mutation_p.F350C			Q6J4K2	NCKX6_HUMAN		406					response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity	p.F406C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						TGTGGCAAAAAAGGTCACTGA	0.587													5	82					0	0	0.014758	0	0	C	113748079	A	C	113748079	3	2	139	1	0	0	0	0	1	0	0	0	14525	14	1	5	557	5	SLC24A6	12	113748079	Missense_Mutation	SNP	A	TCGA-G9-6371-01A-11D-1786-08	113331044	113748079	20103816	24	6737											
GOLGA3	2802	broad.mit.edu	37	chr12	133351742	133351742	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaccgtcttggccgcgccGcggcgtaggtccagcttgag	5	8	15	13	6	1	1	0	1	1	0	2	1	2	1	4	3	2	3	4	3	2	4			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr12:133351742G>A	ENST00000204726.3	-	22	4686	c.4128C>T	c.(4126-4128)cgC>cgT	p.R1376R	GOLGA3_ENST00000456883.2_Silent_p.R1376R|GOLGA3_ENST00000450791.2_Silent_p.R1376R	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	1376					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	p.R1376R(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		TGGCCGCGCCGCGGCGTAGGT	0.587													6	57					0	0	0.02938	0	0	A	133351742	G	A	133351742	2	1	139	1	0	0	0	0	0	0	0	1	6596	1074	38	1		1	GOLGA3	12	133351742	Silent	SNP	G	TCGA-G9-6371-01A-11D-1786-08	19603663	133351742	500153	25	6738											
ITGBL1	9358	broad.mit.edu	37	chr13	102359193	102359193	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgcggaagtgtaacatgaCggaagaacaaagcaagaatc	17	5	11	8	3	0	3	0	1	0	2	2	5	1	5	1	2	3	2	1	2	7	1			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr13:102359193C>T	ENST00000376180.3	+	9	1439	c.1220C>T	c.(1219-1221)aCg>aTg	p.T407M	ITGBL1_ENST00000545560.2_Missense_Mutation_p.T266M|ITGBL1_ENST00000376162.3_Missense_Mutation_p.T314M	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	407	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity	p.T407M(1)		breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGTAACATGACGGAAGAACAA	0.517													7	139					0	0	0.038147	0	0	T	102359193	C	T	102359193	3	4	139	1	0	0	0	0	1	0	0	0	7946	536	19	1	1254	1	ITGBL1	13	102359193	Missense_Mutation	SNP	C	TCGA-G9-6371-01A-11D-1786-08		102359193	12810685	26	6739											
GRK1	6011	broad.mit.edu	37	chr13	114324084	114324084	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctatgcgtttgaaaccaaagCcgacctctgtctggtgatga	10	11	10	10	2	2	3	0	3	2	0	2	4	2	3	3	1	3	1	3	1	3	2			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr13:114324084C>G	ENST00000335678.6	+	2	1014	c.782C>G	c.(781-783)gCc>gGc	p.A261G		NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	G protein-coupled receptor kinase 1	261	Protein kinase.				regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity	p.A261G(1)		ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			GAAACCAAAGCCGACCTCTGT	0.557													4	154					0	0	0.014758	0	0	G	114324084	C	G	114324084	3	3	139	1	0	0	0	0	1	0	0	0	6831	739	26	4	788	4	GRK1	13	114324084	Missense_Mutation	SNP	C	TCGA-G9-6371-01A-11D-1786-08	11964891	114324084	845794	27	6740											
ANG	283	broad.mit.edu	37	chr14	21161988	21161988	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaacaagaatggaaaccctCacagagaaaacctaagaata	23	4	6	8	0	1	3	1	0	0	3	1	5	1	4	2	1	3	0	2	1	10	2			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr14:21161988C>T	ENST00000336811.6	+	2	865	c.265C>T	c.(265-267)Cac>Tac	p.H89Y	AL163636.6_ENST00000553909.1_RNA|ANG_ENST00000554073.1_Intron|RP11-903H12.3_ENST00000554286.1_lincRNA|ANG_ENST00000397990.4_Missense_Mutation_p.H89Y|RNASE4_ENST00000555597.1_Intron|RNASE4_ENST00000397995.2_Intron|RNASE4_ENST00000304704.4_Intron|RNASE4_ENST00000555835.1_Intron	NM_001145.4	NP_001136.1	P03950	ANGI_HUMAN	angiogenin, ribonuclease, RNase A family, 5	89					actin filament polymerization|activation of phospholipase A2 activity|activation of phospholipase C activity|activation of protein kinase B activity|angiogenesis|cell communication|cell death|cell migration|diacylglycerol biosynthetic process|homeostatic process|negative regulation of smooth muscle cell proliferation|negative regulation of translation|oocyte maturation|ovarian follicle development|placenta development|positive regulation of endothelial cell proliferation|positive regulation of phosphorylation|positive regulation of protein secretion|response to hormone stimulus|response to hypoxia|rRNA transcription	angiogenin-PRI complex|basal lamina|extracellular space|growth cone|neuronal cell body|nucleolus	actin binding|copper ion binding|heparin binding|pancreatic ribonuclease activity|peptide binding|receptor binding|rRNA binding	p.H89Y(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)	5	all_cancers(95;0.00387)	all_cancers(140;0.196)|all_epithelial(140;0.156)	Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	OV - Ovarian serous cystadenocarcinoma(311;3.25e-17)|GBM - Glioblastoma multiforme(265;5.56e-07)		TGGAAACCCTCACAGAGAAAA	0.507													4	65					0	0	0.014758	0	0	T	21161988	C	T	21161988	3	4	139	1	0	0	0	0	1	0	0	0	603	826	29	2	267	2	ANG	14	21161988	Missense_Mutation	SNP	C	TCGA-G9-6371-01A-11D-1786-08		21161988	86187552	28	6741											
ITPK1	3705	broad.mit.edu	37	chr14	93404856	93404856	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttccagccttctataaagCacacttggcagtcccctggg	8	11	8	14	0	2	0	0	0	2	0	4	0	4	0	4	2	2	2	4	2	3	5			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr14:93404856C>T	ENST00000354313.3	-	11	1205	c.917G>A	c.(916-918)tGc>tAc	p.C306Y	ITPK1_ENST00000267615.6_3'UTR	NM_001142594.1	NP_001136066.1	Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase	0	ATP-grasp.				blood coagulation|inositol trisphosphate metabolic process|signal transduction	cytosol	ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding	p.C306Y(1)		endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		TTCTATAAAGCACACTTGGCA	0.527													4	44					0	0	0.009096	0	0	T	93404856	C	T	93404856	3	4	139	1	0	0	0	0	1	0	0	0	7960	710	25	2	31	2	ITPK1	14	93404856	Missense_Mutation	SNP	C	TCGA-G9-6371-01A-11D-1786-08	72242868	93404856	13944684	29	6742											
SLC30A4	7782	broad.mit.edu	37	chr15	45814243	45814246	+	Frame_Shift_Del	DEL	TCTC	TCTC	-																															cacctttctctgcttcagtaTctctctctgtttgctgcagt																										TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr15:45814243_45814246delTCTC	ENST00000261867.4	-	2	621_624	c.307_310delGAGA	c.(307-312)tafs	p.EI103fs	SLC30A4_ENST00000559667.1_5'UTR|HMGN2P46_ENST00000409454.1_RNA	NM_013309.4	NP_037441.2	O14863	ZNT4_HUMAN	solute carrier family 30 (zinc transporter), member 4	103					regulation of sequestering of zinc ion|response to toxin	endosome membrane|integral to membrane|late endosome	zinc ion transmembrane transporter activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)		TGCTTCAGTATCTCTCTCTGTTTG	0.475													30	159	---	---	---	---						-	45814246	TCTC	-	45814243	7	5	139	1	0	1	0	1	0	0	0	0	14612	1435	50	0	1007	0	SLC30A4	15	45814243	Frame_Shift_Del	DEL	TCTC	TCGA-G9-6371-01A-11D-1786-08		45814243	56717149	30	6743											
MYH4	4622	broad.mit.edu	37	chr17	10350461	10350461	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcatcaggttagctctgcGctcaaccattgccagttgtt	7	13	9	12	1	3	0	2	0	1	0	3	0	3	0	2	1	5	6	2	1	2	4	rs149007526	by1000genomes	TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr17:10350461G>A	ENST00000255381.2	-	35	5148	c.5038C>T	c.(5038-5040)Cgc>Tgc	p.R1680C	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1680					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.R1680C(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTAGCTCTGCGCTCAACCATT	0.502													39	53					0	0	0.080422	0	0	A	10350461	G	A	10350461	3	1	139	1	0	0	0	0	1	0	0	0	10085	1087	38	1	805	1	MYH4	17	10350461	Missense_Mutation	SNP	G	TCGA-G9-6371-01A-11D-1786-08		10350461	70844749	31	6744											
SLC6A4	6532	broad.mit.edu	37	chr17	28548700	28548700	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtccacagcatagccaaTcactgagagaaggaaatcca	16	5	9	11	0	1	2	1	1	0	1	3	4	3	3	3	2	2	1	3	2	4	1			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr17:28548700T>G	ENST00000401766.2	-	2	789	c.277A>C	c.(277-279)Att>Ctt	p.I93L	SLC6A4_ENST00000261707.3_Missense_Mutation_p.I93L			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	93					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity	p.I93L(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	GCATAGCCAATCACTGAGAGA	0.562													10	118					0	0	0.080935	0	0	G	28548700	T	G	28548700	3	3	139	1	0	0	0	0	1	0	0	0	14741	1435	50	5	1667	5	SLC6A4	17	28548700	Missense_Mutation	SNP	T	TCGA-G9-6371-01A-11D-1786-08	18198239	28548700	52646510	32	6745											
MED13	9969	broad.mit.edu	37	chr17	60028344	60028344	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggttctgttgatagtagccGatcagtactctgacccttaa	10	13	9	9	1	3	2	1	2	2	0	3	3	3	2	2	1	2	4	2	1	4	6			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr17:60028344G>A	ENST00000397786.2	-	28	6209	c.6133C>T	c.(6133-6135)Cgg>Tgg	p.R2045W		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	2045					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.R2045W(2)		breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GATAGTAGCCGATCAGTACTC	0.383													6	45					0	0	0.021553	0	0	A	60028344	G	A	60028344	3	1	139	1	0	0	0	0	1	0	0	0	9480	1057	37	1	403	1	MED13	17	60028344	Missense_Mutation	SNP	G	TCGA-G9-6371-01A-11D-1786-08	31479644	60028344	21166866	33	6746											
SBK2	646643	broad.mit.edu	37	chr19	56041233	56041233	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgagggtccagcagccccCgcagaagcgcgtcggccgcg	6	3	17	15	6	0	2	0	1	0	1	2	2	1	2	4	3	3	2	4	3	1	0			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr19:56041233C>T	ENST00000413299.1	-	4	951	c.914G>A	c.(913-915)cGg>cAg	p.R305Q	SBK2_ENST00000344158.3_Missense_Mutation_p.R305Q	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN	SH3 domain binding kinase family, member 2	305	Protein kinase.						ATP binding|protein serine/threonine kinase activity	p.R305Q(3)		endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						CAGCAGCCCCCGCAGAAGCGC	0.741													4	26					0	0	0.009096	0	0	T	56041233	C	T	56041233	3	4	139	1	0	0	0	0	1	0	0	0	13914	652	23	1	135	1	SBK2	19	56041233	Missense_Mutation	SNP	C	TCGA-G9-6371-01A-11D-1786-08		56041233	3087750	34	6747											
ZFP28	140612	broad.mit.edu	37	chr19	57065989	57065989	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtcatttaaggattcataCtggggagaagccttttgaat	12	13	10	6	0	2	2	2	1	0	1	2	4	2	3	1	3	2	0	1	3	4	6			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr19:57065989C>T	ENST00000301318.3	+	8	1906	c.1835C>T	c.(1834-1836)aCt>aTt	p.T612I	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	612					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T612I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		AGGATTCATACTGGGGAGAAG	0.428													9	138					0	0	0.058154	0	0	T	57065989	C	T	57065989	3	4	139	1	0	0	0	0	1	0	0	0	17700	565	20	2	1865	2	ZFP28	19	57065989	Missense_Mutation	SNP	C	TCGA-G9-6371-01A-11D-1786-08	1024756	57065989	2062994	35	6748											
TCN2	6948	broad.mit.edu	37	chr22	31022486	31022486	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggatggagaaaccattgAgctgaggctggttagctggt	11	9	15	6	0	0	3	0	2	0	1	0	5	0	4	1	5	3	4	1	5	3	2			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr22:31022486A>T	ENST00000215838.3	+	9	1756	c.1262A>T	c.(1261-1263)gAg>gTg	p.E421V	TCN2_ENST00000405742.3_Missense_Mutation_p.E417V|TCN2_ENST00000407817.3_Missense_Mutation_p.E394V			P20062	TCO2_HUMAN	transcobalamin II	421					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding	p.E421V(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAAACCATTGAGCTGAGGCTG	0.567													13	50					0	0	0.146539	0	0	T	31022486	A	T	31022486	3	4	139	1	0	0	0	0	1	0	0	0	15767	304	11	5	1296	5	TCN2	22	31022486	Missense_Mutation	SNP	A	TCGA-G9-6371-01A-11D-1786-08		31022486	20282080	36	6749											
SREBF2	6721	broad.mit.edu	37	chr22	42264696	42264696	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcaggtgcagacagtacAggcccagcgggtgctgacac	10	4	15	12	1	0	2	0	1	0	1	0	2	0	2	1	3	5	5	1	3	1	1			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr22:42264696A>T	ENST00000361204.4	+	3	786	c.620A>T	c.(619-621)cAg>cTg	p.Q207L		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	207	Gln-rich.				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding	p.Q207L(1)		NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CAGACAGTACAGGCCCAGCGG	0.612													14	28					0	0	0.11911	0	0	T	42264696	A	T	42264696	3	4	139	1	0	0	0	0	1	0	0	0	15198	188	7	5	630	5	SREBF2	22	42264696	Missense_Mutation	SNP	A	TCGA-G9-6371-01A-11D-1786-08	11242210	42264696	9039870	37	6750											
LAMC1	3915	broad.mit.edu	37	chr1	183077436	183077436	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtaactgccactgacatcaGagtaactcttaatcgcctga	12	10	8	11	1	2	3	1	2	1	1	3	3	2	3	2	1	3	2	2	1	3	3			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr1:183077436G>A	ENST00000258341.4	+	3	1006	c.749G>A	c.(748-750)aGa>aAa	p.R250K		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	250	Laminin N-terminal.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	p.R250K(2)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACTGACATCAGAGTAACTCTT	0.378													15	106					0	0	1	0	0	A	183077436	G	A	183077436	3	1	140	1	0	0	0	0	1	0	0	0	8653	942	33	2	759	2	LAMC1	1	183077436	Missense_Mutation	SNP	G	TCGA-G9-6373-01A-11D-1786-08		183077436	66173185	1	6751											
C1orf106	55765	broad.mit.edu	37	chr1	200878355	200878355	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctctaatccttttgcagcagCccagccaccacaccacagga	11	7	6	17	0	1	0	0	0	1	0	2	1	2	1	5	1	4	2	5	1	1	3			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr1:200878355C>T	ENST00000367342.4	+	8	1244	c.1044C>T	c.(1042-1044)agC>agT	p.S348S	C1orf106_ENST00000413687.2_Silent_p.S263S	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	348	Pro-rich.									endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						TTTGCAGCAGCCCAGCCACCA	0.602													34	89					0	0	1	0	0	T	200878355	C	T	200878355	2	4	140	1	0	0	0	0	0	0	0	1	1993	738	26	2		2	C1orf106	1	200878355	Silent	SNP	C	TCGA-G9-6373-01A-11D-1786-08	17800919	200878355	48372266	2	6752											
DSTYK	25778	broad.mit.edu	37	chr1	205126469	205126469	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caggaagcggattccctccaCcacatctagtgctatctgca	10	9	8	14	1	2	0	0	0	2	0	4	2	4	2	3	2	3	2	3	2	3	3			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr1:205126469C>T	ENST00000367162.3	-	10	2314	c.2284G>A	c.(2284-2286)Gtg>Atg	p.V762M	DSTYK_ENST00000367161.3_Missense_Mutation_p.V762M|DSTYK_ENST00000367160.4_Intron	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	762	Protein kinase.					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.V223M(1)|p.V762M(1)		breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						ATTCCCTCCACCACATCTAGT	0.473													42	96					0	0	1	0	0	T	205126469	C	T	205126469	3	4	140	1	0	0	0	0	1	0	0	0	4811	507	18	2	521	2	DSTYK	1	205126469	Missense_Mutation	SNP	C	TCGA-G9-6373-01A-11D-1786-08	4248114	205126469	44124152	3	6753											
CRIM1	51232	broad.mit.edu	37	chr2	36691752	36691752	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccgcatagtctctcgtggCgatgggacacctggaaagtg	8	8	13	12	3	1	0	0	0	1	0	3	3	1	2	3	3	0	1	3	3	2	1			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr2:36691752C>T	ENST00000280527.2	+	5	1312	c.945C>T	c.(943-945)ggC>ggT	p.G315G		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	315					nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity	p.G315G(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				TCTCTCGTGGCGATGGGACAC	0.502													64	239					0	0	1	0	0	T	36691752	C	T	36691752	2	4	140	1	0	0	0	0	0	0	0	1	3896	755	27	1		1	CRIM1	2	36691752	Silent	SNP	C	TCGA-G9-6373-01A-11D-1786-08		36691752	206507621	4	6754											
EML4	27436	broad.mit.edu	37	chr2	42543187	42543187	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctctgtgatgcgctactcaAtaggtaggcaaatttactcc	10	13	8	10	1	2	1	1	1	1	0	4	1	3	1	1	2	3	3	1	2	6	5			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr2:42543187A>T	ENST00000318522.5	+	18	2315	c.2053A>T	c.(2053-2055)Ata>Tta	p.I685L	EML4_ENST00000402711.2_Missense_Mutation_p.I627L|EML4_ENST00000401738.3_Missense_Mutation_p.I696L|EML4_ENST00000453191.2_Intron	NM_019063.3	NP_061936.2	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	685					microtubule-based process|mitosis	cytoplasm|microtubule	protein binding	p.I685L(1)	EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						GCGCTACTCAATAGGTAGGCA	0.423			T	ALK	NSCLC								34	75					0	0	1	0	0	T	42543187	A	T	42543187	3	4	140	1	0	0	0	0	1	0	0	0	5127	101	4	5	2123	5	EML4	2	42543187	Missense_Mutation	SNP	A	TCGA-G9-6373-01A-11D-1786-08	5851435	42543187	200656186	5	6755											
LRP1B	53353	broad.mit.edu	37	chr2	141680622	141680622	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcactaccatcttcacagtcTttttctccatcacagcgcca	9	13	3	16	1	6	0	3	0	3	0	7	0	6	0	3	0	2	0	3	0	1	4			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr2:141680622T>G	ENST00000389484.3	-	21	4202	c.3231A>C	c.(3229-3231)aaA>aaC	p.K1077N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1077	LDL-receptor class A 8.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.K1077N(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTTCACAGTCTTTTTCTCCAT	0.418										TSP Lung(27;0.18)			47	113					0	0	1	0	0	G	141680622	T	G	141680622	3	3	140	1	0	0	0	0	1	0	0	0	9000	1606	56	5	10852	5	LRP1B	2	141680622	Missense_Mutation	SNP	T	TCGA-G9-6373-01A-11D-1786-08	99137435	141680622	101518751	6	6756											
BAZ2B	29994	broad.mit.edu	37	chr2	160287661	160287661	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatctgattctgaattactaTctgattctgggaagtaaaag	13	15	8	5	0	4	3	0	3	4	0	4	4	4	4	0	1	1	1	0	1	7	6			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr2:160287661T>C	ENST00000392783.2	-	10	2402	c.1907A>G	c.(1906-1908)gAt>gGt	p.D636G	BAZ2B_ENST00000392782.1_Missense_Mutation_p.D634G|BAZ2B_ENST00000355831.2_Missense_Mutation_p.D636G|BAZ2B_ENST00000343439.5_Intron	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	636	Asp/Glu-rich (acidic).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.D636G(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TGAATTACTATCTGATTCTGG	0.343													16	34					0	0	1	0	0	C	160287661	T	C	160287661	3	2	140	1	0	0	0	0	1	0	0	0	1330	1435	50	3	4711	3	BAZ2B	2	160287661	Missense_Mutation	SNP	T	TCGA-G9-6373-01A-11D-1786-08	18607039	160287661	82911712	7	6757											
ASB1	51665	broad.mit.edu	37	chr2	239344476	239344476	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaagggggccgaggtggatCtggtggacgtaaaaggacag	11	5	20	5	2	1	0	0	0	1	0	1	5	1	4	1	8	0	1	1	8	3	1			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr2:239344476C>G	ENST00000264607.4	+	3	563	c.316C>G	c.(316-318)Ctg>Gtg	p.L106V	ASB1_ENST00000469885.1_3'UTR|ASB1_ENST00000409297.1_Intron	NM_001040445.1	NP_001035535.1	Q9Y576	ASB1_HUMAN	ankyrin repeat and SOCS box containing 1	106					intracellular signal transduction|negative regulation of cytokine biosynthetic process					breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)		CGAGGTGGATCTGGTGGACGT	0.632													6	104					0	0	1	0	0	G	239344476	C	G	239344476	3	3	140	1	0	0	0	0	1	0	0	0	1012	912	32	4	326	4	ASB1	2	239344476	Missense_Mutation	SNP	C	TCGA-G9-6373-01A-11D-1786-08	79056815	239344476	3854897	8	6758											
SCN5A	6331	broad.mit.edu	37	chr3	38627292	38627292	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccactctccacagaggatgcGgaagatgatgaggaaggcat	13	6	13	9	1	1	4	0	2	1	2	2	7	1	7	2	4	1	1	2	4	2	0			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr3:38627292G>A	ENST00000413689.1	-	16	2870	c.2677C>T	c.(2677-2679)Cgc>Tgc	p.R893C	SCN5A_ENST00000425664.1_Missense_Mutation_p.R893C|SCN5A_ENST00000414099.2_Missense_Mutation_p.R893C|SCN5A_ENST00000423572.2_Missense_Mutation_p.R893C|SCN5A_ENST00000455624.2_Missense_Mutation_p.R893C|SCN5A_ENST00000451551.2_Missense_Mutation_p.R893C|SCN5A_ENST00000333535.4_Missense_Mutation_p.R893C|SCN5A_ENST00000450102.2_Missense_Mutation_p.R893C|SCN5A_ENST00000449557.2_Missense_Mutation_p.R893C|SCN5A_ENST00000443581.1_Missense_Mutation_p.R893C	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	893					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	p.R893C(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CAGAGGATGCGGAAGATGATG	0.547													9	221					0	0	1	0	0	A	38627292	G	A	38627292	3	1	140	1	0	0	0	0	1	0	0	0	13976	1116	39	1	3425	1	SCN5A	3	38627292	Missense_Mutation	SNP	G	TCGA-G9-6373-01A-11D-1786-08		38627292	159395138	9	6759											
PLCH1	23007	broad.mit.edu	37	chr3	155206588	155206588	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agtgtttcttcccacacaggGttaaatcctcagagaaatag	13	11	8	9	0	2	1	1	0	1	1	4	2	4	1	2	1	0	2	2	1	4	4			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr3:155206588G>A	ENST00000460012.1	-	20	2667	c.2310C>T	c.(2308-2310)aaC>aaT	p.N770N	PLCH1_ENST00000334686.6_Silent_p.N770N|PLCH1_ENST00000414191.1_Silent_p.N770N|PLCH1_ENST00000494598.1_Silent_p.N788N|PLCH1_ENST00000340059.7_Silent_p.N788N|PLCH1_ENST00000447496.2_Silent_p.N788N			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	788	C2.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	p.N770N(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CCCACACAGGGTTAAATCCTC	0.428													22	46					0	0	1	0	0	A	155206588	G	A	155206588	2	1	140	1	0	0	0	0	0	0	0	1	12085	1252	44	2		2	PLCH1	3	155206588	Silent	SNP	G	TCGA-G9-6373-01A-11D-1786-08	116579296	155206588	42815842	10	6760											
BCL6	604	broad.mit.edu	37	chr3	187447543	187447543	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggttggccacaggcatcCggacatcccgaaactcctca	10	6	11	14	2	1	0	1	0	0	0	4	2	4	1	4	5	1	2	4	5	1	1	rs142220629		TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr3:187447543C>T	ENST00000406870.2	-	5	1016	c.650G>A	c.(649-651)cGg>cAg	p.R217Q	RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.R217Q|RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000450123.2_Missense_Mutation_p.R217Q	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	217					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R217Q(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		CACAGGCATCCGGACATCCCG	0.612			"T, Mis"	"IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"	"NHL, CLL"								20	51					0	0	1	0	0	T	187447543	C	T	187447543	3	4	140	1	0	0	0	0	1	0	0	0	1374	652	23	1	1494	1	BCL6	3	187447543	Missense_Mutation	SNP	C	TCGA-G9-6373-01A-11D-1786-08	32240955	187447543	10574887	11	6761											
NAF1	92345	broad.mit.edu	37	chr4	164050124	164050124	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggtggagggggagggggTgggggtagggagtatggtaa	8	7	26	0	0	0	0	0	0	0	0	0	3	0	3	0	10	0	3	0	10	3	3			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr4:164050124T>G	ENST00000274054.2	-	8	1603	c.1410A>C	c.(1408-1410)ccA>ccC	p.P470P	NAF1_ENST00000509434.1_Intron|NAF1_ENST00000422287.2_Intron	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	470	Pro-rich.				rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				ggggagggggtgggggtaggg	0.522													3	3					0	0	1	0	0	G	164050124	T	G	164050124	2	3	140	1	0	0	0	0	0	0	0	1	10188	1683	59	5		5	NAF1	4	164050124	Silent	SNP	T	TCGA-G9-6373-01A-11D-1786-08		164050124	27104152	12	6762											
HPGD	3248	broad.mit.edu	37	chr4	175416699	175416699	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacggttgttgtagcctcacCgctgctgagcgtgtgaatcc	6	11	13	11	3	1	2	1	2	0	0	2	3	2	2	3	1	3	5	3	1	2	3			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr4:175416699C>A	ENST00000296522.6	-	5	944	c.498_splice	c.e5+1	p.A166_splice	HPGD_ENST00000541923.1_Splice_Site_p.A45_splice|HPGD_ENST00000510901.1_Splice_Site_p.A45_splice|HPGD_ENST00000542498.1_Intron|HPGD_ENST00000296521.7_Splice_Site_p.A166_splice|HPGD_ENST00000422112.2_Splice_Site_p.A98_splice	NM_000860.5|NM_001145816.2|NM_001256301.1|NM_001256307.1	NP_000851.2|NP_001139288.1|NP_001243230.1|NP_001243236.1	P15428	PGDH_HUMAN	hydroxyprostaglandin dehydrogenase 15-(NAD)	166					female pregnancy|lipoxygenase pathway|negative regulation of cell cycle|parturition|prostaglandin metabolic process|transforming growth factor beta receptor signaling pathway	cytosol|nucleus	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|NAD+ binding|prostaglandin E receptor activity|protein homodimerization activity	p.A166A(1)		kidney(1)|lung(3)|prostate(3)	7		Prostate(90;0.00763)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196)		all cancers(43;2.6e-18)|Epithelial(43;4.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.23e-09)|GBM - Glioblastoma multiforme(59;0.00176)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.0253)	NADH(DB00157)	GTAGCCTCACCGCTGCTGAGC	0.408													39	51					9.39024e-22	1.01728e-21	1	1	0	A	175416699	C	A	175416699	5	1	140	1	0	0	0	0	0	0	1	0	7375	666	23	4	314	4	HPGD	4	175416699	Splice_Site	SNP	C	TCGA-G9-6373-01A-11D-1786-08	11366575	175416699	15737577	13	6763											
ACTBL2	345651	broad.mit.edu	37	chr5	56778328	56778328	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actccatgctcgataggataCttcagggtcaggacgcctct	9	10	10	12	2	3	0	2	0	1	0	5	3	4	2	2	3	2	1	2	3	2	3			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr5:56778328C>A	ENST00000423391.1	-	1	308	c.207G>T	c.(205-207)aaG>aaT	p.K69N	CTD-2023N9.1_ENST00000506106.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	69						cytoplasm|cytoskeleton	ATP binding	p.K69N(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		CGATAGGATACTTCAGGGTCA	0.547													21	42					1.64293e-13	1.68617e-13	1	1	0	A	56778328	C	A	56778328	3	1	140	1	0	0	0	0	1	0	0	0	194	564	20	4	927	4	ACTBL2	5	56778328	Missense_Mutation	SNP	C	TCGA-G9-6373-01A-11D-1786-08		56778328	124136932	14	6764											
ZFYVE16	9765	broad.mit.edu	37	chr5	79752812	79752812	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcatgtcattagcattggaGcaagtttcagtacagaagca	14	10	10	7	0	2	1	2	0	0	1	2	2	2	2	0	1	5	6	0	1	4	4			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr5:79752812G>A	ENST00000338008.5	+	13	4024	c.3844G>A	c.(3844-3846)Gca>Aca	p.A1282T	ZFYVE16_ENST00000510158.1_Missense_Mutation_p.A1282T|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.A1282T	NM_014733.3	NP_055548.3	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	1282					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity	p.A1282T(1)		breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		TAGCATTGGAGCAAGTTTCAG	0.343													21	42					0	0	1	0	0	A	79752812	G	A	79752812	3	1	140	1	0	0	0	0	1	0	0	0	17722	971	34	2	3890	2	ZFYVE16	5	79752812	Missense_Mutation	SNP	G	TCGA-G9-6373-01A-11D-1786-08	22974484	79752812	101162448	15	6765											
STK19	8859	broad.mit.edu	37	chr6	31939829	31939830	+	Frame_Shift_Ins	INS	-	-	A																															attcagcgacagtggcgggcINSaaacccctcccggggcgggg																										TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr6:31939829_31939830insA	ENST00000375331.2	+	1	222_223	c.56_57insA	c.(55-57)gaafs	p.E19fs	DOM3Z_ENST00000337523.5_5'UTR|DOM3Z_ENST00000478221.1_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.E19fs|DOM3Z_ENST00000375349.3_5'UTR	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	19						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						CAGTGGCGGGCAAACCCCTCCC	0.634													7	250	---	---	---	---						A	31939830	-	A	31939829	7	5	140	1	0	1	1	0	0	0	0	0	15348	710	25	0	58	0	STK19	6	31939829	Frame_Shift_Ins	INS	-	TCGA-G9-6373-01A-11D-1786-08		31939829	139175238	16	6766											
DST	667	broad.mit.edu	37	chr6	56417898	56417898	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctcacagacactgagcaagCtattggctgtgttgttcagt	9	13	10	9	0	2	2	2	1	1	1	3	2	2	2	0	1	2	5	0	1	2	4			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr6:56417898C>T	ENST00000370754.5	-	61	15598	c.15599G>A	c.(15598-15600)aGc>aAc	p.S5200N	DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Missense_Mutation_p.S5022N|DST_ENST00000421834.2_Missense_Mutation_p.S2934N|DST_ENST00000446842.2_Missense_Mutation_p.S4696N|DST_ENST00000361203.3_Missense_Mutation_p.S5020N|DST_ENST00000244364.6_Missense_Mutation_p.S2608N|DST_ENST00000370788.2_Missense_Mutation_p.S2934N			Q03001	DYST_HUMAN	dystonin	5020					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	p.S2608N(1)|p.S5022N(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ACTGAGCAAGCTATTGGCTGT	0.413													98	183					0	0	1	0	0	T	56417898	C	T	56417898	3	4	140	1	0	0	0	0	1	0	0	0	4809	797	28	2	7864	2	DST	6	56417898	Missense_Mutation	SNP	C	TCGA-G9-6373-01A-11D-1786-08	24478069	56417898	114697169	17	6767											
DST	667	broad.mit.edu	37	chr6	56510689	56510690	+	Frame_Shift_Del	DEL	TC	TC	-																															tacttctggacgaagggcctTctctctctctagcatggcaa																										TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr6:56510689_56510690delTC	ENST00000370754.5	-	14	1652_1653	c.1653_1654delGA	c.(1651-1656)gaagfs	p.EK551fs	DST_ENST00000361203.3_Frame_Shift_Del_p.EK373fs|DST_ENST00000370769.4_Frame_Shift_Del_p.EK373fs|DST_ENST00000421834.2_Frame_Shift_Del_p.EK373fs|DST_ENST00000312431.6_Frame_Shift_Del_p.EK373fs|DST_ENST00000370788.2_Frame_Shift_Del_p.EK373fs			Q03001	DYST_HUMAN	dystonin	373					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CGAAGGGCCTTCTCTCTCTCTA	0.441													7	271	---	---	---	---						-	56510690	TC	-	56510689	7	5	140	1	0	1	0	1	0	0	0	0	4809	1798	62	0		0	DST	6	56510689	Frame_Shift_Del	DEL	TC	TCGA-G9-6373-01A-11D-1786-08	92791	56510689	114604378	18	6768											
LMTK2	22853	broad.mit.edu	37	chr7	97820131	97820132	+	Frame_Shift_Del	DEL	AG	AG	-																															atgtcctcaaccaagtcattAgagagagagacacaaaactc																										TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr7:97820131_97820132delAG	ENST00000297293.5	+	10	1383_1384	c.1090_1091delAG	c.(1090-1092)afs	p.R364fs		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	364	Protein kinase.				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CCAAGTCATTAGAGAGAGAGAC	0.495													7	672	---	---	---	---						-	97820132	AG	-	97820131	7	5	140	1	0	1	0	1	0	0	0	0	8900	412	15	0	1128	0	LMTK2	7	97820131	Frame_Shift_Del	DEL	AG	TCGA-G9-6373-01A-11D-1786-08		97820131	61318532	19	6769											
HOOK3	84376	broad.mit.edu	37	chr8	42852766	42852766	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatctttacaggatcaaggcTcaaaagcagaagatgtaagt	17	9	9	6	0	3	2	2	0	1	2	3	3	3	3	0	2	2	3	0	2	7	3			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr8:42852766T>C	ENST00000307602.4	+	16	1806	c.1606T>C	c.(1606-1608)Tca>Cca	p.S536P		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	536					cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding	p.S536P(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			GGATCAAGGCTCAAAAGCAGA	0.308			T	RET	papillary thyroid								15	59					0	0	1	0	0	C	42852766	T	C	42852766	3	2	140	1	0	0	0	0	1	0	0	0	7325	1551	54	3	1668	3	HOOK3	8	42852766	Missense_Mutation	SNP	T	TCGA-G9-6373-01A-11D-1786-08		42852766	103511256	20	6770											
SLC10A5	347051	broad.mit.edu	37	chr8	82606545	82606546	+	Frame_Shift_Ins	INS	-	-	C																															gaagcagagcaaagagatagINScccccaccccctcctgggca																										TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr8:82606545_82606546insC	ENST00000518568.1	-	1	1863_1864	c.662_663insG	c.(661-663)gtafs	p.V221fs		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	221						integral to membrane	bile acid:sodium symporter activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						CAAAGAGATAGCCCCCACCCCC	0.47													7	522	---	---	---	---						C	82606546	-	C	82606545	7	5	140	1	0	1	1	0	0	0	0	0	14432	958	34	0	655	0	SLC10A5	8	82606545	Frame_Shift_Ins	INS	-	TCGA-G9-6373-01A-11D-1786-08	39753779	82606545	63757477	21	6771											
COL22A1	169044	broad.mit.edu	37	chr8	139662012	139662012	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggccaggagggcagtcatTgcacacatcctgagagtggg	9	6	17	9	0	1	1	1	1	0	1	2	3	2	2	2	5	1	2	2	5	0	1			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr8:139662012T>C	ENST00000303045.6	-	46	3789	c.3343A>G	c.(3343-3345)Aat>Gat	p.N1115D	COL22A1_ENST00000435777.1_Missense_Mutation_p.N1095D|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1115	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.N1115D(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGGCAGTCATTGCACACATCC	0.532										HNSCC(7;0.00092)			27	31					0	0	1	0	0	C	139662012	T	C	139662012	3	2	140	1	0	0	0	0	1	0	0	0	3704	1812	63	3	1617	3	COL22A1	8	139662012	Missense_Mutation	SNP	T	TCGA-G9-6373-01A-11D-1786-08	57055467	139662012	6702010	22	6772											
APBA1	320	broad.mit.edu	37	chr9	72131722	72131722	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcgtggcctcggcgtgctcGgcctctgcctgctccgtgta	1	11	14	15	5	1	0	0	0	1	0	4	0	2	0	4	3	4	3	4	3	1	1			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr9:72131722G>A	ENST00000265381.4	-	2	627	c.405C>T	c.(403-405)gcC>gcT	p.A135A		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	135					axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		p.A135A(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						CGGCGTGCTCGGCCTCTGCCT	0.692													24	54					0	0	1	0	0	A	72131722	G	A	72131722	2	1	140	1	0	0	0	0	0	0	0	1	752	1103	39	1		1	APBA1	9	72131722	Silent	SNP	G	TCGA-G9-6373-01A-11D-1786-08		72131722	69081709	23	6773											
DCLRE1A	9937	broad.mit.edu	37	chr10	115612543	115612543	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgccatcgaggtgtctgcccTatcaatgaggaaaaaggcat	12	9	11	9	1	2	1	1	1	1	0	3	3	2	2	2	3	2	1	2	3	4	1			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr10:115612543T>C	ENST00000361384.2	-	1	1316	c.399A>G	c.(397-399)atA>atG	p.I133M	DCLRE1A_ENST00000369305.1_Missense_Mutation_p.I133M	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	133	Nuclear localization region.				cell division|mitosis	nucleus	hydrolase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		GTGTCTGCCCTATCAATGAGG	0.413								Other identified genes with known or suspected DNA repair function					12	128					0	0	1	0	0	C	115612543	T	C	115612543	3	2	140	1	0	0	0	0	1	0	0	0	4317	1512	53	3	2759	3	DCLRE1A	10	115612543	Missense_Mutation	SNP	T	TCGA-G9-6373-01A-11D-1786-08		115612543	19922204	24	6774											
GUCY1A2	2977	broad.mit.edu	37	chr11	106558447	106558447	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagctcttcacgagaccgcGgaatgaatgtgaaactttct	12	10	10	9	3	3	3	1	2	2	1	3	6	3	4	1	1	2	1	1	1	4	2			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr11:106558447G>A	ENST00000526355.1	-	8	2495	c.2027C>T	c.(2026-2028)cCg>cTg	p.P676L	GUCY1A2_ENST00000282249.2_Missense_Mutation_p.P707L|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.P697L	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	676					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	p.P676L(2)		breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		ACGAGACCGCGGAATGAATGT	0.418													63	134					0	0	1	0	0	A	106558447	G	A	106558447	3	1	140	1	0	0	0	0	1	0	0	0	6934	1116	39	1	175	1	GUCY1A2	11	106558447	Missense_Mutation	SNP	G	TCGA-G9-6373-01A-11D-1786-08		106558447	28448069	25	6775											
PRMT8	56341	broad.mit.edu	37	chr12	3649787	3649787	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggtgaacagcccccccTcccagcccccccagcccgtc	6	4	7	24	1	1	1	1	1	0	0	3	1	2	1	8	1	4	0	8	1	1	0			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	c817606e-6c86-4fec-a7c7-e514459e4aba	g.chr12:3649787T>C	ENST00000382622.3	+	2	481	c.91T>C	c.(91-93)Tcc>Ccc	p.S31P	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.S22P	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	31					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CAGCCCCCCCTCCCAGCCCCC	0.652													14	107					0	0	1	0	0	C	3649787	T	C	3649787	3	2	140	1	0	0	0	0	1	0	0	0	12594	1551	54	3	97	3	PRMT8	12	3649787	Missense_Mutation	SNP	T	TCGA-G9-6373-01A-11D-1786-08		3649787	130202108	26	6776											
KIAA1467	57613	broad.mit.edu	37	chr12	13208628	13208628	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgggagaagcgccagaacccGactcagatgctgaggttgca	11	6	14	10	2	1	4	1	1	0	3	1	6	1	4	2	2	4	3	2	2	2	1			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr12:13208628G>A	ENST00000197268.8	+	2	301	c.181G>A	c.(181-183)Gac>Aac	p.D61N		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	61						integral to membrane		p.D61N(1)		NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		GCCAGAACCCGACTCAGATGC	0.557													47	86					0	0	1	0	0	A	13208628	G	A	13208628	3	1	140	1	0	0	0	0	1	0	0	0	8277	1058	37	1	187	1	KIAA1467	12	13208628	Missense_Mutation	SNP	G	TCGA-G9-6373-01A-11D-1786-08	9558841	13208628	120643267	27	6777											
SSH1	54434	broad.mit.edu	37	chr12	109192926	109192926	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggctatgactgtggaggccGagcgactcacgcccattttg	8	9	13	11	3	1	1	1	1	0	0	1	4	1	2	2	3	1	1	2	3	1	3			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr12:109192926G>A	ENST00000326495.5	-	13	1292	c.1199C>T	c.(1198-1200)tCg>tTg	p.S400L	SSH1_ENST00000360239.3_Missense_Mutation_p.S88L|SSH1_ENST00000326470.5_Missense_Mutation_p.S411L|SSH1_ENST00000551165.1_Missense_Mutation_p.S400L	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	400	Tyrosine-protein phosphatase.				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGTGGAGGCCGAGCGACTCAC	0.557													6	37					0	0	1	0	0	A	109192926	G	A	109192926	3	1	140	1	0	0	0	0	1	0	0	0	15240	1059	37	1	2148	1	SSH1	12	109192926	Missense_Mutation	SNP	G	TCGA-G9-6373-01A-11D-1786-08	95984298	109192926	24658969	28	6778											
MED13L	23389	broad.mit.edu	37	chr12	116446812	116446812	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttttcctgtctttctgctGttttgtgcttagaagaagca	6	19	8	8	0	2	2	0	0	2	2	3	2	3	2	1	0	3	4	1	0	3	6			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr12:116446812G>A	ENST00000281928.3	-	10	1612	c.1406C>T	c.(1405-1407)aCa>aTa	p.T469I		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	469					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			p.T469I(1)		NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TCTTTCTGCTGTTTTGTGCTT	0.478													101	145					0	0	1	0	0	A	116446812	G	A	116446812	3	1	140	1	0	0	0	0	1	0	0	0	9481	1377	48	2	5314	2	MED13L	12	116446812	Missense_Mutation	SNP	G	TCGA-G9-6373-01A-11D-1786-08	7253886	116446812	17405083	29	6779											
GPR32	2854	broad.mit.edu	37	chr19	51273918	51273918	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaacctggggtcctgacaCgtgatcgctcttgttccagg	6	10	13	12	2	1	2	0	2	1	0	4	2	3	2	3	4	1	3	3	4	1	2			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr19:51273918C>T	ENST00000270590.4	+	1	198	c.61C>T	c.(61-63)Cgt>Tgt	p.R21C		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	21						integral to plasma membrane	N-formyl peptide receptor activity	p.R21C(1)		breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		GGTCCTGACACGTGATCGCTC	0.522													15	44					0	0	1	0	0	T	51273918	C	T	51273918	3	4	140	1	0	0	0	0	1	0	0	0	6728	536	19	1	63	1	GPR32	19	51273918	Missense_Mutation	SNP	C	TCGA-G9-6373-01A-11D-1786-08		51273918	7855065	30	6780											
BAGE2	85319	broad.mit.edu	37	chr21	11047499	11047499	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actttgcatttccagccgttGgttggtacagatttcataat	9	16	8	8	1	1	1	1	0	0	1	2	1	2	1	2	2	3	4	2	2	2	7			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr21:11047499G>T	ENST00000470054.1	-	0	755									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)		TCCAGCCGTTGGTTGGTACAG	0.343													42	572					3.76604e-16	3.96961e-16	1	1	0	T	11047499	G	T	11047499	1	4	140	0	1	0	0	0	0	0	0	0	1290	1363	47	4		4	BAGE2	21	11047499	RNA	SNP	G	TCGA-G9-6373-01A-11D-1786-08		11047499	37082396	31	6781											
GSTT1	2952	broad.mit.edu	37	chr22	24384213	24384213	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggctgggacagcaggtccaGgtacagctccaggcccatag	9	5	15	12	0	0	0	0	0	0	0	2	1	2	1	3	5	3	4	3	5	2	2			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr22:24384213G>A	ENST00000248935.5	-	1	71	c.19C>T	c.(19-21)Ctg>Ttg	p.L7L	GSTT1_ENST00000439996.2_5'UTR	NM_000853.2	NP_000844.2	P30711	GSTT1_HUMAN	glutathione S-transferase theta 1	7	GST N-terminal.				glutathione metabolic process	cytosol|soluble fraction	glutathione peroxidase activity|glutathione transferase activity	p.L7L(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)	6					Glutathione(DB00143)	AGCAGGTCCAGGTACAGCTCC	0.587									Myelodysplasia and Acute Myeloid Leukemia (AML), Familial				58	81					0	0	1	0	0	A	24384213	G	A	24384213	2	1	140	1	0	0	0	0	0	0	0	1	6886	991	35	2		2	GSTT1	22	24384213	Silent	SNP	G	TCGA-G9-6373-01A-11D-1786-08		24384213	26920353	32	6782											
KLHDC7B	113730	broad.mit.edu	37	chr22	50987891	50987891	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgcctggaccccacgcgcGccactccccgcaggcacctt	6	4	10	21	5	0	0	0	0	0	0	1	2	1	1	7	2	0	2	7	2	0	1			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chr22:50987891G>A	ENST00000395676.2	+	1	1430	c.1296G>A	c.(1294-1296)gcG>gcA	p.A432A		NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	432								p.A333A(1)		central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCCCACGCGCGCCACTCCCCG	0.672													51	116					0	0	1	0	0	A	50987891	G	A	50987891	2	1	140	1	0	0	0	0	0	0	0	1	8404	1074	38	1		1	KLHDC7B	22	50987891	Silent	SNP	G	TCGA-G9-6373-01A-11D-1786-08	26603678	50987891	316675	33	6783											
KIAA1210	57481	broad.mit.edu	37	chrX	118238971	118238971	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcacctgagtcgctgtcaaaCtcttatgtggtaaagccttc	9	13	8	11	1	3	1	2	1	1	0	5	1	3	1	2	1	2	2	2	1	4	3			TCGA-G9-6373-01A-11D-1786-08	TCGA-G9-6373-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0caf5af2-ae80-4f39-ac6f-c2dbc2e8b820	906935a6-9e29-4146-a7a0-d60f2507e774	g.chrX:118238971C>A	ENST00000402510.2	-	7	1051	c.1052G>T	c.(1051-1053)aGt>aTt	p.S351I		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	351										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						CGCTGTCAAACTCTTATGTGG	0.418													9	195					0.000673444	0.000673444	1	1	0	A	118238971	C	A	118238971	3	1	140	1	0	0	0	0	1	0	0	0	8256	565	20	4	4109	4	KIAA1210	23	118238971	Missense_Mutation	SNP	C	TCGA-G9-6373-01A-11D-1786-08		118238971	37031589	34	6784											
C1orf173	127254	broad.mit.edu	37	chr1	75038906	75038906	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttctatgcctggagggatctCccttttttctgtaaactctt	6	18	7	10	0	4	0	0	0	4	0	5	2	4	2	2	2	2	1	2	2	3	7			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr1:75038906C>A	ENST00000326665.5	-	14	2706	c.2488G>T	c.(2488-2490)Gag>Tag	p.E830*	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	830	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GGAGGGATCTCCCTTTTTTCT	0.572													13	130					5.50884e-06	3.7537e-05	0.001368	1	0	A	75038906	C	A	75038906	4	1	141	1	0	0	0	0	0	1	0	0	2027	864	30	4	2108	4	C1orf173	1	75038906	Nonsense_Mutation	SNP	C	TCGA-G9-6377-01A-11D-1961-08		75038906	174211715	1	6785											
PALMD	54873	broad.mit.edu	37	chr1	100154852	100154852	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcttcacaccccgcaaaaaAggctaatgactccttgggaa	14	7	8	12	1	1	1	1	1	0	0	2	2	2	2	3	2	1	3	3	2	5	3			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr1:100154852A>T	ENST00000263174.4	+	7	1411	c.1036A>T	c.(1036-1038)Agg>Tgg	p.R346W	PALMD_ENST00000605497.1_Missense_Mutation_p.R346W	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN	palmdelphin	346					regulation of cell shape	cytoplasm|membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		CCCGCAAAAAAGGCTAATGAC	0.488													15	27					0	0	0.004007	0	0	T	100154852	A	T	100154852	3	4	141	1	0	0	0	0	1	0	0	0	11458	63	3	5	1062	5	PALMD	1	100154852	Missense_Mutation	SNP	A	TCGA-G9-6377-01A-11D-1961-08	25115946	100154852	149095769	2	6786											
PRPF3	9129	broad.mit.edu	37	chr1	150297416	150297416	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaatggcactgtcaaagAgggagctggatgagctgaaa	16	6	14	5	0	1	3	1	2	0	1	1	6	1	5	0	3	2	3	0	3	4	0			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr1:150297416A>G	ENST00000324862.6	+	2	181	c.16A>G	c.(16-18)Agg>Ggg	p.R6G	PRPF3_ENST00000543398.1_5'UTR|PRPF3_ENST00000414970.2_Missense_Mutation_p.R6G	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	6	PWI.				nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		ACTGTCAAAGAGGGAGCTGGA	0.423													7	128					0	0	0.00308	0	0	G	150297416	A	G	150297416	3	3	141	1	0	0	0	0	1	0	0	0	12617	295	11	3	18	3	PRPF3	1	150297416	Missense_Mutation	SNP	A	TCGA-G9-6377-01A-11D-1961-08	50142564	150297416	98953205	3	6787											
ST3GAL5	8869	broad.mit.edu	37	chr2	86067399	86067399	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagccatgcattgactgtcGaagtagtgcaaaggtgttct	10	11	12	8	1	1	1	0	1	1	0	2	2	1	1	1	1	3	5	1	1	3	3			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr2:86067399G>A	ENST00000377332.3	-	7	1233	c.1125C>T	c.(1123-1125)ttC>ttT	p.F375F	ST3GAL5_ENST00000393808.3_Silent_p.F352F|ST3GAL5_ENST00000393805.1_Silent_p.F347F	NM_003896.3	NP_003887.3	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	375					ganglioside biosynthetic process|protein glycosylation	integral to Golgi membrane|integral to plasma membrane	lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						ATTGACTGTCGAAGTAGTGCA	0.463													32	72					0	0	0.003271	0	0	A	86067399	G	A	86067399	2	1	141	1	0	0	0	0	0	0	0	1	15274	1049	37	1		1	ST3GAL5	2	86067399	Silent	SNP	G	TCGA-G9-6377-01A-11D-1961-08		86067399	157131974	4	6788											
TTN	7273	broad.mit.edu	37	chr2	179463526	179463526	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcagacttgctggacccaCgccagcagcattgattgcat	9	9	11	12	1	0	2	0	1	0	1	0	3	0	3	2	2	4	5	2	2	0	3			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr2:179463526C>T	ENST00000589042.1	-	291	57135	c.56911G>A	c.(56911-56913)Gtg>Atg	p.V18971M	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V10031M|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V9906M|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V16403M|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V10098M|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V17330M	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17330	Fibronectin type-III 37.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTGGACCCACGCCAGCAGCA	0.428													18	235					0	0	0.007413	0	0	T	179463526	C	T	179463526	3	4	141	1	0	0	0	0	1	0	0	0	16797	536	19	1	51070	1	TTN	2	179463526	Missense_Mutation	SNP	C	TCGA-G9-6377-01A-11D-1961-08	93396127	179463526	63735847	5	6789											
DLEC1	9940	broad.mit.edu	37	chr3	38129853	38129853	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgccttcggtgtttgagctgGccccgggacatgctatatta	6	13	12	10	2	0	1	0	1	0	0	1	2	0	2	3	3	3	3	3	3	3	5			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr3:38129853G>A	ENST00000308059.6	+	10	1660	c.1639G>A	c.(1639-1641)Gcc>Acc	p.A547T	DLEC1_ENST00000452631.2_Missense_Mutation_p.A547T|DLEC1_ENST00000346219.3_Missense_Mutation_p.A547T			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	547					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GTTTGAGCTGGCCCCGGGACA	0.458													5	138					0	0	0.001984	0	0	A	38129853	G	A	38129853	3	1	141	1	0	0	0	0	1	0	0	0	4580	1203	42	2	1677	2	DLEC1	3	38129853	Missense_Mutation	SNP	G	TCGA-G9-6377-01A-11D-1961-08		38129853	159892577	6	6790											
CCR9	10803	broad.mit.edu	37	chr3	45942472	45942472	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgttcatcgtgggtgccttGggcaacagtcttgttatcct	5	15	12	9	1	2	0	1	0	1	0	4	0	3	0	2	2	2	3	2	2	2	4			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr3:45942472G>T	ENST00000357632.2	+	3	372	c.192G>T	c.(190-192)ttG>ttT	p.L64F	LZTFL1_ENST00000536047.1_Intron|LZTFL1_ENST00000539217.1_Intron|CCR9_ENST00000422395.1_Missense_Mutation_p.W93L|CCR9_ENST00000355983.2_Missense_Mutation_p.L52F|CCR9_ENST00000395963.2_Missense_Mutation_p.L52F	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	64					cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane				breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		TGGGTGCCTTGGGCAACAGTC	0.473													9	175					0.000673444	0.00448452	0.008291	1	0	T	45942472	G	T	45942472	3	4	141	1	0	0	0	0	1	0	0	0	2970	1339	47	4	198	4	CCR9	3	45942472	Missense_Mutation	SNP	G	TCGA-G9-6377-01A-11D-1961-08	7812619	45942472	152079958	7	6791											
OR5H14	403273	broad.mit.edu	37	chr3	97868263	97868263	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgcaacattgctgacagagTttgttctcacaggattttta	11	15	8	7	0	1	2	1	1	1	1	2	3	1	3	0	1	3	4	0	1	2	6			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr3:97868263T>C	ENST00000437310.1	+	1	94	c.34T>C	c.(34-36)Ttt>Ctt	p.F12L		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						GCTGACAGAGTTTGTTCTCAC	0.393													9	126					0	0	0.006214	0	0	C	97868263	T	C	97868263	3	2	141	1	0	0	0	0	1	0	0	0	11207	1725	60	3	36	3	OR5H14	3	97868263	Missense_Mutation	SNP	T	TCGA-G9-6377-01A-11D-1961-08	51925791	97868263	100154167	8	6792											
DNAJC13	23317	broad.mit.edu	37	chr3	132165395	132165395	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccttagaagtaacaaatcagGtaatcctgttagaagctgtt	14	12	8	7	0	1	2	1	0	0	2	2	2	2	2	2	1	2	5	2	1	7	5			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr3:132165395G>T	ENST00000260818.6	+	3	392		c.e3+1		DNAJC13_ENST00000486798.1_Splice_Site	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13								heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						AACAAATCAGGTAATCCTGTT	0.368													17	28					4.96729e-08	3.63854e-07	0.008871	1	0	T	132165395	G	T	132165395	5	4	141	1	0	0	0	0	0	0	1	0	4659	1275	44	4	151	4	DNAJC13	3	132165395	Splice_Site	SNP	G	TCGA-G9-6377-01A-11D-1961-08	34297132	132165395	65857035	9	6793											
FETUB	26998	broad.mit.edu	37	chr3	186362642	186362642	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctgccaccgagtctcttgCgaaatacaacaatgagaaca	14	7	9	11	2	1	1	0	1	1	1	2	4	1	1	2	1	5	1	2	1	5	2	rs149523201		TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr3:186362642C>G	ENST00000265029.3	+	4	628	c.527C>G	c.(526-528)gCg>gGg	p.A176G	FETUB_ENST00000382134.3_Missense_Mutation_p.A111G|FETUB_ENST00000539949.1_Missense_Mutation_p.A28G|FETUB_ENST00000488561.1_3'UTR|RP11-134F2.2_ENST00000428501.1_RNA|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000382136.3_Missense_Mutation_p.A139G|FETUB_ENST00000450521.1_Missense_Mutation_p.A176G	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	176	Cystatin fetuin-B-type 2.					extracellular space	cysteine-type endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		GAGTCTCTTGCGAAATACAAC	0.478													6	112					0	0	0.001168	0	0	G	186362642	C	G	186362642	3	3	141	1	0	0	0	0	1	0	0	0	5854	768	27	4	541	4	FETUB	3	186362642	Missense_Mutation	SNP	C	TCGA-G9-6377-01A-11D-1961-08	54197247	186362642	11659788	10	6794											
SLIT2	9353	broad.mit.edu	37	chr4	20255579	20255579	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcacgggctggcgctgcgCagcgtgcccaggaatatccc	6	7	14	14	4	1	0	1	0	0	0	2	1	2	1	2	3	3	3	2	3	2	1			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr4:20255579C>A	ENST00000504154.1	+	1	393	c.141C>A	c.(139-141)cgC>cgA	p.R47R	SLIT2_ENST00000503837.1_Silent_p.R47R|SLIT2_ENST00000273739.5_Silent_p.R47R|SLIT2_ENST00000503823.1_Silent_p.R47R	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	47	LRRNT.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TGGCGCTGCGCAGCGTGCCCA	0.667													8	129					1.06961e-07	7.64382e-07	0.00308	1	0	A	20255579	C	A	20255579	2	1	141	1	0	0	0	0	0	0	0	1	14794	697	25	4		4	SLIT2	4	20255579	Silent	SNP	C	TCGA-G9-6377-01A-11D-1961-08		20255579	170898697	11	6795											
GABRB1	2560	broad.mit.edu	37	chr4	47427856	47427856	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagccgcgaggcctacgggCgcgccctggaccggcacggg	5	2	18	16	7	0	0	0	0	0	0	0	2	0	1	4	5	2	2	4	5	1	1			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr4:47427856C>T	ENST00000295454.3	+	9	1538	c.1246C>T	c.(1246-1248)Cgc>Tgc	p.R416C	GABRB1_ENST00000538619.1_Missense_Mutation_p.R346C	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	416					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(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GGCCTACGGGCGCGCCCTGGA	0.642													6	51					0	0	0.001168	0	0	T	47427856	C	T	47427856	3	4	141	1	0	0	0	0	1	0	0	0	6201	768	27	1	1280	1	GABRB1	4	47427856	Missense_Mutation	SNP	C	TCGA-G9-6377-01A-11D-1961-08	27172277	47427856	143726420	12	6796											
SYNPO2	171024	broad.mit.edu	37	chr4	119978626	119978626	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctacatctccttgggtatAccagcctacttatagttact	9	16	5	11	0	2	0	0	0	2	0	3	0	2	0	3	1	5	2	3	1	7	9			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr4:119978626A>G	ENST00000307142.4	+	5	3519	c.3323A>G	c.(3322-3324)tAc>tGc	p.Y1108C	SYNPO2_ENST00000448416.2_Missense_Mutation_p.T110A	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	765						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CCTTGGGTATACCAGCCTACT	0.448													22	56					0	0	0.002299	0	0	G	119978626	A	G	119978626	3	3	141	1	0	0	0	0	1	0	0	0	15514	391	14	3	3453	3	SYNPO2	4	119978626	Missense_Mutation	SNP	A	TCGA-G9-6377-01A-11D-1961-08	72550770	119978626	71175650	13	6797											
ITGA2	3673	broad.mit.edu	37	chr5	52362978	52362978	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attgctgatgtagctatagaAgcttcattcacaccagaaaa	15	11	7	8	0	2	3	2	1	0	2	2	3	2	3	1	0	3	4	1	0	6	6			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr5:52362978A>C	ENST00000296585.5	+	16	2117	c.1974A>C	c.(1972-1974)gaA>gaC	p.E658D		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	658					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				TAGCTATAGAAGCTTCATTCA	0.353													3	38					0	0	0.004672	0	0	C	52362978	A	C	52362978	3	2	141	1	0	0	0	0	1	0	0	0	7919	69	3	5	2036	5	ITGA2	5	52362978	Missense_Mutation	SNP	A	TCGA-G9-6377-01A-11D-1961-08		52362978	128552282	14	6798											
MEP1A	4224	broad.mit.edu	37	chr6	46793078	46793078	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatacaccctatgattatgAgtctttgatgcactaccagc	12	12	6	11	0	1	3	0	3	1	0	1	3	1	3	2	0	4	1	2	0	5	5			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr6:46793078A>C	ENST00000230588.4	+	8	635	c.626A>C	c.(625-627)gAg>gCg	p.E209A		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	209	Metalloprotease.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			TATGATTATGAGTCTTTGATG	0.443													5	85					0	0	0.001984	0	0	C	46793078	A	C	46793078	3	2	141	1	0	0	0	0	1	0	0	0	9525	304	11	5	656	5	MEP1A	6	46793078	Missense_Mutation	SNP	A	TCGA-G9-6377-01A-11D-1961-08		46793078	124321989	15	6799											
DST	667	broad.mit.edu	37	chr6	56468037	56468037	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgcaagcatgatctgtttcGttctttctgaagacacgttg	8	15	9	9	3	3	3	0	2	3	1	5	3	3	3	0	0	1	5	0	0	2	4			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr6:56468037G>A	ENST00000370754.5	-	41	11023	c.11024C>T	c.(11023-11025)aCg>aTg	p.T3675M	DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Missense_Mutation_p.T3497M|DST_ENST00000370769.4_Missense_Mutation_p.T3497M|DST_ENST00000244364.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000446842.2_Missense_Mutation_p.T3171M|DST_ENST00000361203.3_Missense_Mutation_p.T3497M			Q03001	DYST_HUMAN	dystonin	3497					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GATCTGTTTCGTTCTTTCTGA	0.388													14	13					0	0	0.00245	0	0	A	56468037	G	A	56468037	3	1	141	1	0	0	0	0	1	0	0	0	4809	1160	40	1		1	DST	6	56468037	Missense_Mutation	SNP	G	TCGA-G9-6377-01A-11D-1961-08	9674959	56468037	114647030	16	6800											
PHF10	55274	broad.mit.edu	37	chr6	170114863	170114863	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctggaactgtccggggatgaGagccactgggtaagaactga	11	7	15	8	1	0	3	0	2	0	2	1	6	1	5	2	4	3	1	2	4	3	1			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr6:170114863G>C	ENST00000339209.4	-	7	892	c.769C>G	c.(769-771)Ctc>Gtc	p.L257V	PHF10_ENST00000366780.4_Missense_Mutation_p.L255V	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	Q8WUB8	PHF10_HUMAN	PHD finger protein 10	257	SAY.				nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	npBAF complex	zinc ion binding			endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1)	14		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)		CCGGGGATGAGAGCCACTGGG	0.418													14	169					0	0	0.003163	0	0	C	170114863	G	C	170114863	3	2	141	1	0	0	0	0	1	0	0	0	11869	942	33	4	751	4	PHF10	6	170114863	Missense_Mutation	SNP	G	TCGA-G9-6377-01A-11D-1961-08	113646826	170114863	1000204	17	6801											
POM121C	100101267	broad.mit.edu	37	chr7	75053866	75053867	+	Frame_Shift_Ins	INS	-	-	T																															gaagccttcttctctaagtcINStaggtcctcggcagtgatcg																										TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr7:75053866_75053867insT	ENST00000453279.2	-	11	1677_1678	c.813_814insA	c.(811-816)ctacttfs	p.L272fs	POM121C_ENST00000257665.5_Frame_Shift_Ins_p.L514fs|POM121C_ENST00000473168.1_5'UTR	NM_001099415.1	NP_001092885.1	A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	514	Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						TTCTCTAAGTCTAGGTCCTCGG	0.51													102	194	---	---	---	---						T	75053867	-	T	75053866	7	5	141	1	0	1	1	0	0	0	0	0	12288	913	32	0	2169	0	POM121C	7	75053866	Frame_Shift_Ins	INS	-	TCGA-G9-6377-01A-11D-1961-08		75053866	84084797	18	6802											
ADCY8	114	broad.mit.edu	37	chr8	131848633	131848633	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcactgccagcttcaggacGgagttcagccggaggaaaac	12	5	13	11	2	2	0	2	0	0	0	2	4	2	4	2	4	5	3	2	4	2	2			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr8:131848633G>A	ENST00000286355.5	-	12	4657	c.2565C>T	c.(2563-2565)tcC>tcT	p.S855S	ADCY8_ENST00000377928.3_Silent_p.S724S	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	855					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GCTTCAGGACGGAGTTCAGCC	0.537										HNSCC(32;0.087)			40	57					0	0	0.006999	0	0	A	131848633	G	A	131848633	2	1	141	1	0	0	0	0	0	0	0	1	299	1103	39	1		1	ADCY8	8	131848633	Silent	SNP	G	TCGA-G9-6377-01A-11D-1961-08		131848633	14515389	19	6803											
TG	7038	broad.mit.edu	37	chr8	133935616	133935616	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagaggaacgaagcaggccTgcaatgtgaccagaatggcc	13	5	13	10	1	1	3	1	1	0	2	1	5	1	4	3	3	3	2	3	3	4	0			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr8:133935616T>A	ENST00000220616.4	+	22	4602	c.4562T>A	c.(4561-4563)cTg>cAg	p.L1521Q	TG_ENST00000542445.1_5'UTR|TG_ENST00000377869.1_Intron	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1521	Thyroglobulin type-1 11.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GAAGCAGGCCTGCAATGTGAC	0.577													7	94					0	0	0.00308	0	0	A	133935616	T	A	133935616	3	1	141	1	0	0	0	0	1	0	0	0	15873	1580	55	5	4648	5	TG	8	133935616	Missense_Mutation	SNP	T	TCGA-G9-6377-01A-11D-1961-08	2086983	133935616	12428406	20	6804											
TRPM6	140803	broad.mit.edu	37	chr9	77377204	77377204	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctaaacacaccagtttcAtcaccttctgaaaatgccca	14	10	4	13	0	3	1	2	1	1	0	3	1	3	1	3	0	3	2	3	0	4	3			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr9:77377204A>C	ENST00000451710.3	-	26	4620	c.4383T>G	c.(4381-4383)gaT>gaG	p.D1461E	TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.D1456E|TRPM6_ENST00000360774.1_Missense_Mutation_p.D1461E|TRPM6_ENST00000449912.2_Missense_Mutation_p.D1456E|TRPM6_ENST00000376864.4_Missense_Mutation_p.D1461E			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1461					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CACCAGTTTCATCACCTTCTG	0.493													44	98					0	0	0.002222	0	0	C	77377204	A	C	77377204	3	2	141	1	0	0	0	0	1	0	0	0	16651	214	8	5	1741	5	TRPM6	9	77377204	Missense_Mutation	SNP	A	TCGA-G9-6377-01A-11D-1961-08		77377204	63836227	21	6805											
TLL2	7093	broad.mit.edu	37	chr10	98138802	98138802	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagctcccgaaggtgttgaCgcactcatgctgacacccgc	8	8	11	14	3	1	2	1	2	0	0	2	3	2	2	2	1	2	5	2	1	2	2			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr10:98138802C>T	ENST00000357947.3	-	17	2467	c.2242G>A	c.(2242-2244)Gtc>Atc	p.V748I		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	748	EGF-like 2; calcium-binding (Potential).				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		AAGGTGTTGACGCACTCATGC	0.552													15	134					0	0	0.003163	0	0	T	98138802	C	T	98138802	3	4	141	1	0	0	0	0	1	0	0	0	16006	536	19	1	825	1	TLL2	10	98138802	Missense_Mutation	SNP	C	TCGA-G9-6377-01A-11D-1961-08		98138802	37395945	22	6806											
TCERG1L	256536	broad.mit.edu	37	chr10	132915191	132915191	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcttgggactcccgcagccTtcggtccttcaggaacacaa	8	8	11	14	2	1	0	1	0	0	0	4	2	3	2	3	4	2	2	3	4	2	3			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr10:132915191T>A	ENST00000368642.4	-	9	1351	c.1266A>T	c.(1264-1266)gaA>gaT	p.E422D		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	422										cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		TCCCGCAGCCTTCGGTCCTTC	0.567													6	18					0	0	0.001168	0	0	A	132915191	T	A	132915191	3	1	141	1	0	0	0	0	1	0	0	0	15746	1606	56	5	510	5	TCERG1L	10	132915191	Missense_Mutation	SNP	T	TCGA-G9-6377-01A-11D-1961-08	34776389	132915191	2619556	23	6807											
AMBRA1	55626	broad.mit.edu	37	chr11	46569829	46569829	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcatccaccgggttttatcTtctaccagctcctgcagaag	8	13	7	13	1	3	1	1	0	2	1	5	1	5	1	4	1	3	3	4	1	3	5	rs17854361		TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr11:46569829T>A	ENST00000458649.2	-	2	520	c.102A>T	c.(100-102)gaA>gaT	p.E34D	AMBRA1_ENST00000426438.1_Missense_Mutation_p.E34D|AMBRA1_ENST00000534300.1_Missense_Mutation_p.E34D|AMBRA1_ENST00000533727.1_Missense_Mutation_p.E34D|AMBRA1_ENST00000528950.1_Missense_Mutation_p.E34D|AMBRA1_ENST00000314845.3_Missense_Mutation_p.E34D|AMBRA1_ENST00000298834.3_Missense_Mutation_p.E34D			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	34					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GGGTTTTATCTTCTACCAGCT	0.512													15	427					0	0	0.003163	0	0	A	46569829	T	A	46569829	3	1	141	1	0	0	0	0	1	0	0	0	561	1606	56	5	3596	5	AMBRA1	11	46569829	Missense_Mutation	SNP	T	TCGA-G9-6377-01A-11D-1961-08		46569829	88436687	24	6808											
OR5R1	219479	broad.mit.edu	37	chr11	56185184	56185184	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggtcatcacaatagaaatgGttaattaagtttgggccaca	15	11	9	6	0	2	1	2	0	0	1	2	1	2	1	1	3	0	2	1	3	5	4			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr11:56185184G>C	ENST00000312253.1	-	1	524	c.525C>G	c.(523-525)aaC>aaG	p.N175K		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					AATAGAAATGGTTAATTAAGT	0.433													20	98					0	0	0.002299	0	0	C	56185184	G	C	56185184	3	2	141	1	0	0	0	0	1	0	0	0	11227	1252	44	4	451	4	OR5R1	11	56185184	Missense_Mutation	SNP	G	TCGA-G9-6377-01A-11D-1961-08	9615355	56185184	78821332	25	6809											
ESPL1	9700	broad.mit.edu	37	chr12	53666575	53666575	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgaggcctgtgccatctcTgagccgctctgtcagcacct	5	9	11	16	2	3	1	1	1	2	0	4	2	3	1	5	1	3	2	5	1	0	0			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr12:53666575T>G	ENST00000257934.4	+	6	1531	c.1440T>G	c.(1438-1440)tcT>tcG	p.S480S	ESPL1_ENST00000552462.1_Silent_p.S480S	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	480					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GTGCCATCTCTGAGCCGCTCT	0.522													22	223					0	0	0.002299	0	0	G	53666575	T	G	53666575	2	3	141	1	0	0	0	0	0	0	0	1	5281	1567	55	5		5	ESPL1	12	53666575	Silent	SNP	T	TCGA-G9-6377-01A-11D-1961-08		53666575	80185320	26	6810											
LRP1	4035	broad.mit.edu	37	chr12	57574174	57574174	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctccgggaaccataccatCaaccgctgcaacctggatgg	11	6	10	14	2	1	0	1	0	0	0	2	2	2	2	5	3	6	3	5	3	4	1			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr12:57574174C>T	ENST00000243077.3	+	32	5764	c.5298C>T	c.(5296-5298)atC>atT	p.I1766I		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1766					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ACCATACCATCAACCGCTGCA	0.617													25	224					0	0	0.00632	0	0	T	57574174	C	T	57574174	2	4	141	1	0	0	0	0	0	0	0	1	8996	816	29	2		2	LRP1	12	57574174	Silent	SNP	C	TCGA-G9-6377-01A-11D-1961-08	3907599	57574174	76277721	27	6811											
SEMA6D	80031	broad.mit.edu	37	chr15	48054506	48054506	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaataaaatatgattccaaAtggataaaaggtacctttga	19	11	6	5	0	0	2	0	2	0	0	1	3	1	3	2	2	1	1	2	2	8	6			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr15:48054506A>G	ENST00000316364.5	+	8	1087	c.648A>G	c.(646-648)aaA>aaG	p.K216K	SEMA6D_ENST00000536845.2_Silent_p.K216K|SEMA6D_ENST00000358066.4_Silent_p.K216K|SEMA6D_ENST00000389425.3_Silent_p.K216K|SEMA6D_ENST00000537942.1_Silent_p.K216K|SEMA6D_ENST00000354744.4_Silent_p.K216K|SEMA6D_ENST00000558014.1_Silent_p.K216K|SEMA6D_ENST00000389432.2_Silent_p.K216K|SEMA6D_ENST00000389433.2_Silent_p.K216K|SEMA6D_ENST00000558816.1_Silent_p.K216K|SEMA6D_ENST00000355997.3_Silent_p.K216K|SEMA6D_ENST00000389428.3_Silent_p.K216K	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	216	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		ATGATTCCAAATGGATAAAAG	0.507													3	79					0	0	0.004672	0	0	G	48054506	A	G	48054506	2	3	141	1	0	0	0	0	0	0	0	1	14096	98	4	3		3	SEMA6D	15	48054506	Silent	SNP	A	TCGA-G9-6377-01A-11D-1961-08		48054506	54476886	28	6812											
NOD2	64127	broad.mit.edu	37	chr16	50745558	50745558	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacaggtcagccctgatgAcatttctcttggcttcctgg	7	12	10	12	0	2	2	1	2	1	0	4	2	3	2	2	3	2	2	2	3	0	3			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr16:50745558A>G	ENST00000300589.2	+	4	1841	c.1736A>G	c.(1735-1737)gAc>gGc	p.D579G		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	579	NACHT.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				AGCCCTGATGACATTTCTCTT	0.607													6	35					0	0	0.001168	0	0	G	50745558	A	G	50745558	3	3	141	1	0	0	0	0	1	0	0	0	10564	275	10	3	1750	3	NOD2	16	50745558	Missense_Mutation	SNP	A	TCGA-G9-6377-01A-11D-1961-08		50745558	39609195	29	6813											
MYOM1	8736	broad.mit.edu	37	chr18	3135567	3135567	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttgtcccctaccacagtCacctccgttgcctctgaggg	6	11	9	15	1	2	1	1	1	1	0	4	1	4	1	6	1	2	2	6	1	1	3			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr18:3135567C>A	ENST00000356443.4	-	15	2520	c.2187G>T	c.(2185-2187)gtG>gtT	p.V729V	MYOM1_ENST00000261606.7_Silent_p.V729V|MYOM1_ENST00000400569.3_Silent_p.V729V	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	729	Fibronectin type-III 2.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CTACCACAGTCACCTCCGTTG	0.458													14	15					1.15088e-07	8.02874e-07	0.004007	1	0	A	3135567	C	A	3135567	2	1	141	1	0	0	0	0	0	0	0	1	10139	813	29	4		4	MYOM1	18	3135567	Silent	SNP	C	TCGA-G9-6377-01A-11D-1961-08		3135567	74941681	30	6814											
NPHS1	4868	broad.mit.edu	37	chr19	36340544	36340544	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcctattatctgagctcCggggtgtcaccctgggatga	7	11	12	11	1	2	2	1	2	1	0	3	3	3	3	3	3	2	1	3	3	2	2	rs114428177	by1000genomes	TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr19:36340544C>A	ENST00000378910.5	-	6	619	c.620G>T	c.(619-621)cGg>cTg	p.R207L	NPHS1_ENST00000353632.6_Missense_Mutation_p.R207L	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	207	Ig-like C2-type 2.		TPR -> I (in NPHS1).		cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ATCTGAGCTCCGGGGTGTCAC	0.542													6	92					0.00116845	0.00760788	0.001168	1	0	A	36340544	C	A	36340544	3	1	141	1	0	0	0	0	1	0	0	0	10629	652	23	4	3201	4	NPHS1	19	36340544	Missense_Mutation	SNP	C	TCGA-G9-6377-01A-11D-1961-08		36340544	22788439	31	6815											
ARHGEF1	0	broad.mit.edu	37	chr19	42410938	42410938	+	Nonstop_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccagcctggctgcacttgAggttcccgcccaggaaggtg	6	7	13	15	1	0	1	0	1	0	0	1	2	1	2	5	4	2	3	5	4	1	2			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr19:42410938A>T	ENST00000599846.1	+	29	3032	c.2907A>T	c.(2905-2907)tgA>tgT	p.*969C	ARHGEF1_ENST00000347545.4_Nonstop_Mutation_p.*880C|ARHGEF1_ENST00000354532.3_Nonstop_Mutation_p.*913C|ARHGEF1_ENST00000337665.4_Nonstop_Mutation_p.*928C|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.R841W			Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	0					cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		GCTGCACTTGAGGTTCCCGCC	0.657													9	21					0	0	0.000978	0	0	T	42410938	A	T	42410938	4	4	141	1	0	0	0	0	0	0	0	0	890	317	11	5	2894	5	ARHGEF1	19	42410938	Nonstop_Mutation	SNP	A	TCGA-G9-6377-01A-11D-1961-08	6070394	42410938	16718045	32	6816											
GRIK5	2901	broad.mit.edu	37	chr19	42566936	42566936	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctccacagatatggctcaCggtggaggcagatgctgggc	8	8	14	11	1	2	2	1	0	1	2	3	3	2	3	1	5	1	3	1	5	1	1	rs145589136		TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr19:42566936C>T	ENST00000262895.3	-	3	315	c.316G>A	c.(316-318)Gtg>Atg	p.V106M	GRIK5_ENST00000301218.4_Missense_Mutation_p.V106M|GRIK5_ENST00000593562.1_Missense_Mutation_p.V106M	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	106						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	ATATGGCTCACGGTGGAGGCA	0.632													28	53					0	0	0.007291	0	0	T	42566936	C	T	42566936	3	4	141	1	0	0	0	0	1	0	0	0	6818	536	19	1	2694	1	GRIK5	19	42566936	Missense_Mutation	SNP	C	TCGA-G9-6377-01A-11D-1961-08	155998	42566936	16562047	33	6817											
ZNF28	7576	broad.mit.edu	37	chr19	53304661	53304661	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtgcagttcaggcagatgcGaatgaaagcttaatccaagc	13	9	11	8	1	1	2	1	1	0	1	2	3	2	2	1	1	4	4	1	1	4	2			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr19:53304661G>A	ENST00000438150.2	-	2	1171	c.278C>T	c.(277-279)tCg>tTg	p.S93L	ZNF28_ENST00000360272.4_Missense_Mutation_p.S93L|ZNF28_ENST00000594602.1_3'UTR|ZNF28_ENST00000414252.2_Missense_Mutation_p.S93L|ZNF28_ENST00000457749.2_Missense_Mutation_p.S146L			P17035	ZNF28_HUMAN	zinc finger protein 28	146					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		AGGCAGATGCGAATGAAAGCT	0.398													17	319					0	0	0.006122	0	0	A	53304661	G	A	53304661	3	1	141	1	0	0	0	0	1	0	0	0	17871	1059	37	1	1723	1	ZNF28	19	53304661	Missense_Mutation	SNP	G	TCGA-G9-6377-01A-11D-1961-08	10737725	53304661	5824322	34	6818											
SIRPA	140885	broad.mit.edu	37	chr20	1902248	1902248	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catccacagcacagccaaggTggtgctgacccgcgaggacg	10	4	13	14	3	0	1	0	1	0	0	1	3	1	2	3	3	3	2	3	3	1	0			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr20:1902248T>G	ENST00000358771.4	+	3	796	c.644T>G	c.(643-645)gTg>gGg	p.V215G	SIRPA_ENST00000400068.3_Missense_Mutation_p.V215G|SIRPA_ENST00000356025.3_Missense_Mutation_p.V215G	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	215	Ig-like C1-type 1.				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		ACAGCCAAGGTGGTGCTGACC	0.572													7	103					0	0	0.00308	0	0	G	1902248	T	G	1902248	3	3	141	1	0	0	0	0	1	0	0	0	14387	1696	59	5	654	5	SIRPA	20	1902248	Missense_Mutation	SNP	T	TCGA-G9-6377-01A-11D-1961-08		1902248	61123272	35	6819											
CDH4	1002	broad.mit.edu	37	chr20	60448792	60448792	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccgttccaggcacctacGtgatgaccgtcacggccaac	8	8	9	16	4	2	2	1	2	1	0	4	2	3	2	5	2	2	2	5	2	2	2			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chr20:60448792G>A	ENST00000360469.5	+	7	974	c.886G>A	c.(886-888)Gtg>Atg	p.V296M	CDH4_ENST00000543233.1_Missense_Mutation_p.V222M	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	296	Cadherin 2.				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)			AGGCACCTACGTGATGACCGT	0.662													33	66					0	0	0.003755	0	0	A	60448792	G	A	60448792	3	1	141	1	0	0	0	0	1	0	0	0	3134	1145	40	1	912	1	CDH4	20	60448792	Missense_Mutation	SNP	G	TCGA-G9-6377-01A-11D-1961-08	58546544	60448792	2576728	36	6820											
MAGEA6	4105	broad.mit.edu	37	chrX	151869833	151869833	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtggaccccatcggccacGtgtacatctttgccacctgc	8	9	9	15	2	1	0	0	0	1	0	2	1	1	1	5	2	3	1	5	2	2	2	rs146486229	byFrequency	TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chrX:151869833G>T	ENST00000329342.5	+	3	748	c.523G>T	c.(523-525)Gtg>Ttg	p.V175L		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	175	MAGE.						protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CATCGGCCACGTGTACATCTT	0.527													10	96					0.00136819	0.0087148	0.001368	1	0	T	151869833	G	T	151869833	3	4	141	1	0	0	0	0	1	0	0	0	9218	1145	40	4	525	4	MAGEA6	23	151869833	Missense_Mutation	SNP	G	TCGA-G9-6377-01A-11D-1961-08		151869833	3400727	37	6821											
PCDH11Y	83259	broad.mit.edu	37	chrY	4967494	4967494	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtacagtaggactaatcacTgtaactgatcctgattatgg	12	12	10	7	0	1	2	1	2	0	0	2	3	2	3	1	3	2	3	1	3	5	5			TCGA-G9-6377-01A-11D-1961-08	TCGA-G9-6377-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bd9212-3027-4fd0-a68c-8eba98159fa7	7a8a6772-4da4-4461-adcf-094b84fed702	g.chrY:4967494T>A	ENST00000333703.4	+	5	2355	c.1842T>A	c.(1840-1842)acT>acA	p.T614T	PCDH11Y_ENST00000362095.5_Silent_p.T625T|PCDH11Y_ENST00000215473.6_Silent_p.T625T	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	625	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GACTAATCACTGTAACTGATC	0.393													5	32					0	0	0.000602	0	0	A	4967494	T	A	4967494	2	1	141	1	0	0	0	0	0	0	0	1	11556	1567	55	5		5	PCDH11Y	24	4967494	Silent	SNP	T	TCGA-G9-6377-01A-11D-1961-08		4967494	54406072	38	6822											
ABCA4	24	broad.mit.edu	37	chr1	94506837	94506837	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagtacaagcctgtgccaaaGcagttcttcaggaagagtgg	13	8	12	8	0	2	1	1	0	1	1	2	2	2	2	2	2	4	3	2	2	5	3			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr1:94506837G>A	ENST00000370225.3	-	23	3536	c.3450C>T	c.(3448-3450)tgC>tgT	p.C1150C		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1150	ABC transporter 1.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.C1150C(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CTGTGCCAAAGCAGTTCTTCA	0.562													19	75					0	0	0.049695	0	0	A	94506837	G	A	94506837	2	1	142	1	0	0	0	0	0	0	0	1	34	963	34	2		2	ABCA4	1	94506837	Silent	SNP	G	TCGA-G9-6378-01A-11D-1786-08		94506837	154743784	1	6823											
SPRR2F	0	broad.mit.edu	37	chr1	153085079	153085079	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggcactgctgaggtgggcagGactgtggacactttgatggt	7	10	17	7	0	0	2	0	2	0	0	0	4	0	4	0	6	1	3	0	6	0	1			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr1:153085079G>A	ENST00000468739.1	-	2	191	c.131C>T	c.(130-132)tCc>tTc	p.S44F	SPRR2B_ENST00000368752.4_Intron	NM_001014450.1	NP_001014450.1	Q96RM1	SPR2F_HUMAN	small proline-rich protein 2F	44	3 X 9 AA tandem repeats of [PS]-K-C-P- [EQ]-[PS]-C-P-P.				keratinization	cornified envelope|cytoplasm		p.S44F(1)		large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	4	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGGTGGGCAGGACTGTGGACA	0.617													54	313					0	0	0.139131	0	0	A	153085079	G	A	153085079	3	1	142	1	0	0	0	0	1	0	0	0	15157	1174	41	2	91	2	SPRR2F	1	153085079	Missense_Mutation	SNP	G	TCGA-G9-6378-01A-11D-1786-08	58578242	153085079	96165542	2	6824											
OR6K6	128371	broad.mit.edu	37	chr1	158725008	158725008	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgtactttttccactcaCttggtatcacagaaagctgt	11	14	7	9	0	2	2	2	0	0	2	3	2	3	2	1	1	2	3	1	1	3	5			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr1:158725008C>A	ENST00000368144.2	+	1	499	c.403C>A	c.(403-405)Ctt>Att	p.L135I		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					TTTCCACTCACTTGGTATCAC	0.493													4	85					3.41278e-10	4.08196e-10	0.0333	1	0	A	158725008	C	A	158725008	3	1	142	1	0	0	0	0	1	0	0	0	11251	565	20	4	405	4	OR6K6	1	158725008	Missense_Mutation	SNP	C	TCGA-G9-6378-01A-11D-1786-08	5639929	158725008	90525613	3	6825											
C1orf110	339512	broad.mit.edu	37	chr1	162824943	162824943	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttggcatggaacagagatgCccttgctggggtctacgtcc	7	11	13	10	1	1	1	0	0	1	1	2	3	2	2	2	4	4	2	2	4	2	3			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr1:162824943C>T	ENST00000367912.1	-	4	692	c.518G>A	c.(517-519)gGc>gAc	p.G173D	C1orf110_ENST00000367911.2_Missense_Mutation_p.G169D|C1orf110_ENST00000524691.1_Intron|C1orf110_ENST00000367910.1_Missense_Mutation_p.G174D			Q86UF4	CA110_HUMAN	chromosome 1 open reading frame 110	174								p.G174D(1)		endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						AACAGAGATGCCCTTGCTGGG	0.463													59	306					0	0	0.139131	0	0	T	162824943	C	T	162824943	3	4	142	1	0	0	0	0	1	0	0	0	1996	739	26	2	391	2	C1orf110	1	162824943	Missense_Mutation	SNP	C	TCGA-G9-6378-01A-11D-1786-08	4099935	162824943	86425678	4	6826											
RASAL2	9462	broad.mit.edu	37	chr1	178269157	178269157	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagggggacaggagcagcagAcagattccaccaaagggcga	15	2	15	9	1	0	2	0	0	0	2	1	5	1	4	2	4	2	2	2	4	2	1			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr1:178269157A>G	ENST00000448150.3	+	3	1125	c.307A>G	c.(307-309)Aca>Gca	p.T103A	RASAL2_ENST00000367649.3_Missense_Mutation_p.T121A|RASAL2_ENST00000465723.1_3'UTR	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	0	PH.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	p.T121A(1)|p.T103A(1)		biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						GGAGCAGCAGACAGATTCCAC	0.473											OREG0014010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	66					0	0	0.080935	0	0	G	178269157	A	G	178269157	3	3	142	1	0	0	0	0	1	0	0	0	13116	275	10	3	371	3	RASAL2	1	178269157	Missense_Mutation	SNP	A	TCGA-G9-6378-01A-11D-1786-08	15444214	178269157	70981464	5	6827											
OBSCN	84033	broad.mit.edu	37	chr1	228509861	228509861	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgtgcatcagcaaagagactCctgcccctgtggtgcctcca	8	9	10	14	0	1	1	1	0	0	1	3	2	3	1	5	1	4	2	5	1	1	0			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr1:228509861C>T	ENST00000570156.2	+	66	18264	c.18190C>T	c.(18190-18192)Cct>Tct	p.P6064S	OBSCN_ENST00000366709.4_Missense_Mutation_p.P2226S|OBSCN_ENST00000366707.4_Missense_Mutation_p.P2741S|OBSCN_ENST00000284548.11_Missense_Mutation_p.P5107S|OBSCN_ENST00000422127.1_Missense_Mutation_p.P5107S	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5107	Ig-like 52.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.P5689S(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAAAGAGACTCCTGCCCCTGT	0.597													4	37					0	0	0.009096	0	0	T	228509861	C	T	228509861	3	4	142	1	0	0	0	0	1	0	0	0	10860	855	30	2	15533	2	OBSCN	1	228509861	Missense_Mutation	SNP	C	TCGA-G9-6378-01A-11D-1786-08	50240704	228509861	20740760	6	6828											
NRP2	8828	broad.mit.edu	37	chr2	206562286	206562286	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agacccaccgtgcggaggtcGtttgaattccaaagatgctg	10	9	12	10	3	0	3	0	1	0	2	2	4	1	4	3	2	2	2	3	2	2	2			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr2:206562286G>A	ENST00000360409.3	+	2	883	c.92G>A	c.(91-93)cGt>cAt	p.R31H	NRP2_ENST00000540178.1_Missense_Mutation_p.R31H|NRP2_ENST00000540841.1_Missense_Mutation_p.R31H|NRP2_ENST00000272849.3_Missense_Mutation_p.R31H|NRP2_ENST00000417189.1_Missense_Mutation_p.R31H|NRP2_ENST00000412873.2_Missense_Mutation_p.R31H|NRP2_ENST00000355117.4_Missense_Mutation_p.R31H|NRP2_ENST00000357785.5_Missense_Mutation_p.R31H|NRP2_ENST00000357118.4_Missense_Mutation_p.R31H	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	31	CUB 1.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	p.R31H(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						TGCGGAGGTCGTTTGAATTCC	0.517													24	462					0	0	0.116897	0	0	A	206562286	G	A	206562286	3	1	142	1	0	0	0	0	1	0	0	0	10709	1145	40	1	98	1	NRP2	2	206562286	Missense_Mutation	SNP	G	TCGA-G9-6378-01A-11D-1786-08		206562286	36637087	7	6829											
ABCB6	10058	broad.mit.edu	37	chr2	220081146	220081146	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgtaactggtaacagtccAggccagagagttccaaggtg	12	7	13	9	1	0	1	0	0	0	1	2	3	2	1	3	3	2	3	3	3	3	3			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr2:220081146A>G	ENST00000265316.3	-	4	1226	c.910T>C	c.(910-912)Tgg>Cgg	p.W304R	ABCB6_ENST00000439002.2_Missense_Mutation_p.W258R	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6	304	ABC transmembrane type-1.				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity	p.W304R(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTAACAGTCCAGGCCAGAGAG	0.547													16	46					0	0	0.038395	0	0	G	220081146	A	G	220081146	3	3	142	1	0	0	0	0	1	0	0	0	45	188	7	3	1682	3	ABCB6	2	220081146	Missense_Mutation	SNP	A	TCGA-G9-6378-01A-11D-1786-08	13518860	220081146	23118227	8	6830											
GRM7	2917	broad.mit.edu	37	chr3	7721859	7721859	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgaactcaatgtccagaaaCggaagcgaagcttcaaggcg	14	6	11	10	3	2	2	2	1	0	1	3	4	3	3	1	2	4	1	1	2	6	1			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr3:7721859C>T	ENST00000486284.1	+	9	2849	c.2575C>T	c.(2575-2577)Cgg>Tgg	p.R859W	GRM7_ENST00000389336.4_Missense_Mutation_p.R859W|GRM7_ENST00000403881.1_Missense_Mutation_p.R859W|GRM7_ENST00000357716.4_Missense_Mutation_p.R859W|GRM7_ENST00000402647.2_Missense_Mutation_p.R859W	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	859					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	p.R859W(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	TGTCCAGAAACGGAAGCGAAG	0.512													4	89					0	0	0.014758	0	0	T	7721859	C	T	7721859	3	4	142	1	0	0	0	0	1	0	0	0	6843	527	19	1	2609	1	GRM7	3	7721859	Missense_Mutation	SNP	C	TCGA-G9-6378-01A-11D-1786-08		7721859	190300571	9	6831											
PRSS48	345062	broad.mit.edu	37	chr4	152201037	152201037	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcaggtcagcctacactttGaccacaactttatctgtgga	10	11	9	11	0	2	1	1	1	1	0	2	2	2	2	2	3	3	1	2	3	3	4			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr4:152201037G>A	ENST00000455694.2	+	2	144	c.142G>A	c.(142-144)Gac>Aac	p.D48N	SH3D19_ENST00000604030.1_Intron|PRSS48_ENST00000441586.2_Intron	NM_183375.2	NP_899231.2	Q7RTY5	PRS48_HUMAN	protease, serine, 48	48	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.D60N(1)|p.D48N(1)		kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						CCTACACTTTGACCACAACTT	0.542													22	153					0	0	0.062417	0	0	A	152201037	G	A	152201037	3	1	142	1	0	0	0	0	1	0	0	0	12679	1290	45	2	148	2	PRSS48	4	152201037	Missense_Mutation	SNP	G	TCGA-G9-6378-01A-11D-1786-08		152201037	38953239	10	6832											
GPR98	84059	broad.mit.edu	37	chr5	90106488	90106488	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcaggaatggatatttccttCcccgagacaactgtggctgt	9	11	11	10	1	0	1	0	0	0	1	2	4	2	3	3	3	1	2	3	3	3	3			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr5:90106488C>T	ENST00000405460.2	+	74	15507	c.15411C>T	c.(15409-15411)ttC>ttT	p.F5137F	GPR98_ENST00000425867.2_Silent_p.F798F	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5137					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.F5137F(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATATTTCCTTCCCCGAGACAA	0.443													48	300					0	0	0.139131	0	0	T	90106488	C	T	90106488	2	4	142	1	0	0	0	0	0	0	0	1	6762	854	30	2		2	GPR98	5	90106488	Silent	SNP	C	TCGA-G9-6378-01A-11D-1786-08		90106488	90808772	11	6833											
RELL2	285613	broad.mit.edu	37	chr5	141017909	141017909	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcatgatctgccacgtgctCaagaagaagggctaccgctg	10	9	11	11	2	3	3	2	1	1	2	3	3	3	3	2	1	3	3	2	1	4	2			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr5:141017909C>G	ENST00000297164.3	+	1	1317	c.117C>G	c.(115-117)ctC>ctG	p.L39L	RELL2_ENST00000444782.1_Silent_p.L39L|RELL2_ENST00000521367.1_Intron|RELL2_ENST00000518025.1_3'UTR|RELL2_ENST00000518856.1_Intron	NM_173828.4	NP_776189.3	Q8NC24	RELL2_HUMAN	RELT-like 2	39						integral to membrane|plasma membrane		p.L39L(1)		large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCACGTGCTCAAGAAGAAGG	0.597													6	158					0	0	0.021553	0	0	G	141017909	C	G	141017909	2	3	142	1	0	0	0	0	0	0	0	1	13271	813	29	4		4	RELL2	5	141017909	Silent	SNP	C	TCGA-G9-6378-01A-11D-1786-08	50911421	141017909	39897351	12	6834											
STK19	8859	broad.mit.edu	37	chr6	31940215	31940215	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tggaagaggcatcacctgatCccggagacctttggagttaa	11	9	12	9	1	1	3	1	1	0	2	2	6	2	5	3	4	0	2	3	4	2	2			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr6:31940215C>T	ENST00000375331.2	+	2	523	c.357C>T	c.(355-357)atC>atT	p.I119I	STK19_ENST00000463823.1_3'UTR|STK19_ENST00000375333.2_Silent_p.I119I	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	119						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.I119I(1)		skin(5)|upper_aerodigestive_tract(2)	7						ATCACCTGATCCCGGAGACCT	0.597													15	119					0	0	0.043863	0	0	T	31940215	C	T	31940215	2	4	142	1	0	0	0	0	0	0	0	1	15348	845	30	2		2	STK19	6	31940215	Silent	SNP	C	TCGA-G9-6378-01A-11D-1786-08		31940215	139174852	13	6835											
GPR115	221393	broad.mit.edu	37	chr6	47682279	47682279	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtcccgggtggttgtgaCggagatatcatacatgcgtc	7	11	15	8	3	1	2	1	1	0	1	3	3	2	2	1	4	2	1	1	4	2	3	rs146828294	by1000genomes	TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr6:47682279C>T	ENST00000283303.2	+	6	1556	c.1298C>T	c.(1297-1299)aCg>aTg	p.T433M	GPR115_ENST00000371220.1_Missense_Mutation_p.T490M|GPR115_ENST00000327753.3_Missense_Mutation_p.T433M	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	433					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						GTGGTTGTGACGGAGATATCA	0.478													6	186					0	0	0.038147	0	0	T	47682279	C	T	47682279	3	4	142	1	0	0	0	0	1	0	0	0	6672	536	19	1	1316	1	GPR115	6	47682279	Missense_Mutation	SNP	C	TCGA-G9-6378-01A-11D-1786-08	15742064	47682279	123432788	14	6836											
INHBA	3624	broad.mit.edu	37	chr7	41739857	41739857	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctttgggagggcggccagcGcacaggacggacagtcgggg	7	4	19	11	4	0	0	0	0	0	0	1	3	0	3	2	7	1	1	2	7	0	1			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr7:41739857G>A	ENST00000242208.4	-	2	362	c.116C>T	c.(115-117)gCg>gTg	p.A39V	INHBA-AS1_ENST00000415848.2_RNA|INHBA-AS1_ENST00000420821.1_RNA|INHBA-AS1_ENST00000422822.1_RNA|INHBA_ENST00000442711.1_Missense_Mutation_p.A39V|AC005027.3_ENST00000416150.1_RNA	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	39					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	p.A39V(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GGCGGCCAGCGCACAGGACGG	0.577										TSP Lung(11;0.080)			57	374					0	0	0.139131	0	0	A	41739857	G	A	41739857	3	1	142	1	0	0	0	0	1	0	0	0	7785	1087	38	1	1172	1	INHBA	7	41739857	Missense_Mutation	SNP	G	TCGA-G9-6378-01A-11D-1786-08		41739857	117398806	15	6837											
ABCA13	154664	broad.mit.edu	37	chr7	48443343	48443343	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acccgagctctgtctggaggCctgaagaggaagctctccct	8	8	12	13	1	3	2	0	1	3	1	4	5	3	4	3	3	2	2	3	3	2	0			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr7:48443343C>A	ENST00000435803.1	+	39	11961	c.11937C>A	c.(11935-11937)ggC>ggA	p.G3979G		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3979	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity	p.G3979G(2)|p.G3924G(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGTCTGGAGGCCTGAAGAGGA	0.527													10	42					1.58986e-06	1.86503e-06	0.069234	1	0	A	48443343	C	A	48443343	2	1	142	1	0	0	0	0	0	0	0	1	31	726	26	4		4	ABCA13	7	48443343	Silent	SNP	C	TCGA-G9-6378-01A-11D-1786-08	6703486	48443343	110695320	16	6838											
SGK223	0	broad.mit.edu	37	chr8	8238940	8238940	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcctcacctgcgagacttcGgcactcaggttggcctctgt	6	10	11	14	2	3	1	2	0	1	1	4	2	3	1	3	3	2	2	3	3	0	2			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr8:8238940G>C	ENST00000520004.1	-	2	582	c.318C>G	c.(316-318)gcC>gcG	p.A106A	SGK223_ENST00000330777.4_Silent_p.A106A			Q86YV5	SG223_HUMAN		106							ATP binding|non-membrane spanning protein tyrosine kinase activity	p.A106A(5)									GCGAGACTTCGGCACTCAGGT	0.562													14	75					0	0	0.11911	0	0	C	8238940	G	C	8238940	2	2	142	1	0	0	0	0	0	0	0	1	14264	1103	39	4		4	SGK223	8	8238940	Silent	SNP	G	TCGA-G9-6378-01A-11D-1786-08		8238940	138125082	17	6839											
IFNA13	3447	broad.mit.edu	37	chr9	21367472	21367472	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taatctttcttgcaagtttgTtgataaagagagggatctca	12	15	9	5	0	3	2	1	1	3	1	4	4	3	3	0	1	1	3	0	1	4	6			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr9:21367472T>C	ENST00000449498.1	-	1	603	c.538A>G	c.(538-540)Aca>Gca	p.T180A		NM_006900.3	NP_008831.3	P01562	IFNA1_HUMAN	interferon, alpha 13	179					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	p.T180A(1)|p.T179A(1)		breast(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	9				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0173)		TGCAAGTTTGTTGATAAAGAG	0.408													30	155					0	0	0.117977	0	0	C	21367472	T	C	21367472	3	2	142	1	0	0	0	0	1	0	0	0	7577	1725	60	3	38	3	IFNA13	9	21367472	Missense_Mutation	SNP	T	TCGA-G9-6378-01A-11D-1786-08		21367472	119845959	18	6840											
PCSK5	5125	broad.mit.edu	37	chr9	78790168	78790168	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gaatgaaatggaatggaatgGaatggaatggaatggaatgg	17	8	16	0	0	0	1	0	1	0	0	0	8	0	7	0	7	0	0	0	7	8	0			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr9:78790168G>A	ENST00000376767.3	+	14	2535	c.2023G>A	c.(2023-2025)Gaa>Aaa	p.E675K	PCSK5_ENST00000376752.4_Intron|PCSK5_ENST00000545128.1_Intron			Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	0	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						gaatggaatggaatggaatgg	0.388													3	16					0	0	0.009096	0	0	A	78790168	G	A	78790168	3	1	142	1	0	0	0	0	1	0	0	0	11650	1189	41	2		2	PCSK5	9	78790168	Missense_Mutation	SNP	G	TCGA-G9-6378-01A-11D-1786-08	57422696	78790168	62423263	19	6841											
FAM69B	138311	broad.mit.edu	37	chr9	139617909	139617909	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccgaggccaccgtgcgcCgcttcctgcagggccgccgc	4	4	13	20	6	0	0	0	0	0	0	1	1	1	0	7	2	2	2	7	2	0	1			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr9:139617909C>T	ENST00000371691.1	+	3	1817	c.718C>T	c.(718-720)Cgc>Tgc	p.R240C	SNHG7_ENST00000414282.1_RNA|FAM69B_ENST00000371692.4_Missense_Mutation_p.R327C			Q5VUD6	FA69B_HUMAN	family with sequence similarity 69, member B	327						endoplasmic reticulum membrane|integral to membrane		p.R327C(1)		NS(1)|endometrium(3)|large_intestine(2)|lung(1)|prostate(1)	8	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)		CACCGTGCGCCGCTTCCTGCA	0.667													5	31					0	0	0.014758	0	0	T	139617909	C	T	139617909	3	4	142	1	0	0	0	0	1	0	0	0	5638	652	23	1	997	1	FAM69B	9	139617909	Missense_Mutation	SNP	C	TCGA-G9-6378-01A-11D-1786-08	60827741	139617909	1595522	20	6842											
FAM166A	401565	broad.mit.edu	37	chr9	140140297	140140297	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agcgcagctgcggaaagaagCcggcatagctgtggagggaa	12	4	17	8	3	0	1	0	0	0	1	0	4	0	4	1	4	5	4	1	4	4	1			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr9:140140297C>T	ENST00000344774.4	-	2	119	c.65G>A	c.(64-66)gGc>gAc	p.G22D	FAM166A_ENST00000388932.2_Missense_Mutation_p.G22D	NM_001001710.1	NP_001001710.1	Q6J272	F166A_HUMAN	family with sequence similarity 166, member A	22								p.G22D(1)		kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2)	15						CGGAAAGAAGCCGGCATAGCT	0.632													3	43					0	0	0.115264	0	0	T	140140297	C	T	140140297	3	4	142	1	0	0	0	0	1	0	0	0	5511	739	26	2	912	2	FAM166A	9	140140297	Missense_Mutation	SNP	C	TCGA-G9-6378-01A-11D-1786-08	522388	140140297	1073134	21	6843											
KLC2	64837	broad.mit.edu	37	chr11	66026227	66026227	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcgaagccgagcctggctcGcaggagcgctgcatcctcct	6	6	14	15	4	0	0	0	0	0	0	3	3	2	1	4	3	4	4	4	3	1	0			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr11:66026227G>T	ENST00000417856.1	+	2	405	c.162G>T	c.(160-162)tcG>tcT	p.S54S	KLC2_ENST00000394078.1_Silent_p.S54S|KLC2_ENST00000421552.1_Silent_p.S54S|KLC2_ENST00000394066.2_Silent_p.S54S|KLC2_ENST00000394067.2_Silent_p.S54S|KLC2_ENST00000316924.5_Silent_p.S54S	NM_001134775.1	NP_001128247.1	Q9H0B6	KLC2_HUMAN	kinesin light chain 2	54					blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding	p.S54S(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						AGCCTGGCTCGCAGGAGCGCT	0.667											OREG0021097	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	61					0.00198382	0.00212303	0.02938	1	0	T	66026227	G	T	66026227	2	4	142	1	0	0	0	0	0	0	0	1	8377	1074	38	4		4	KLC2	11	66026227	Silent	SNP	G	TCGA-G9-6378-01A-11D-1786-08		66026227	68980289	22	6844											
ITPR2	3709	broad.mit.edu	37	chr12	26864155	26864156	+	Frame_Shift_Ins	INS	-	-	T																															atgcttaaatctgaacaagcINStgttccactgtcctgcaccc																										TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr12:26864155_26864156insT	ENST00000381340.3	-	9	1317_1318	c.901_902insA	c.(901-903)cttfs	p.L301fs		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	301	MIR 4.				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					TCTGAACAAGCTGTTCCACTGT	0.416													7	74	---	---	---	---						T	26864156	-	T	26864155	7	5	142	1	0	1	1	0	0	0	0	0	7965	797	28	0	7399	0	ITPR2	12	26864155	Frame_Shift_Ins	INS	-	TCGA-G9-6378-01A-11D-1786-08		26864155	106987740	23	6845											
NCKAP5L	57701	broad.mit.edu	37	chr12	50186731	50186731	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgggggtgggaaggtccCaatgccactgtccaaggttc	7	9	15	10	0	1	0	0	0	1	0	4	1	3	1	3	5	1	1	3	5	3	1			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr12:50186731C>T	ENST00000335999.6	-	11	3580	c.3379G>A	c.(3379-3381)Ggg>Agg	p.G1127R		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	1123	Pro-rich.							p.G1127R(1)|p.G718R(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						GGGAAGGTCCCAATGCCACTG	0.652													6	19					0	0	0.038147	0	0	T	50186731	C	T	50186731	3	4	142	1	0	0	0	0	1	0	0	0	10271	594	21	2	637	2	NCKAP5L	12	50186731	Missense_Mutation	SNP	C	TCGA-G9-6378-01A-11D-1786-08	23322576	50186731	83665164	24	6846											
TRHDE	29953	broad.mit.edu	37	chr12	72680634	72680634	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaggaagatggatgggttaCggatcacttttcacagaccc	11	10	12	8	1	2	3	2	1	0	2	2	6	2	6	1	4	1	1	1	4	2	3			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr12:72680634C>T	ENST00000261180.4	+	2	1049	c.953C>T	c.(952-954)aCg>aTg	p.T318M		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	318					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.T318M(3)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GGATGGGTTACGGATCACTTT	0.413													6	157					0	0	0.021553	0	0	T	72680634	C	T	72680634	3	4	142	1	0	0	0	0	1	0	0	0	16540	536	19	1	959	1	TRHDE	12	72680634	Missense_Mutation	SNP	C	TCGA-G9-6378-01A-11D-1786-08	22493903	72680634	61171261	25	6847											
NBEA	26960	broad.mit.edu	37	chr13	35733542	35733542	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgatatggatttatcaccGgagactttagtaggtggaga	12	12	13	4	1	1	3	1	1	0	2	1	7	1	4	1	4	0	1	1	4	4	6			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr13:35733542G>A	ENST00000540320.1	+	22	3768	c.3234G>A	c.(3232-3234)ccG>ccA	p.P1078P	NBEA_ENST00000400445.3_Silent_p.P1078P|NBEA_ENST00000310336.4_Silent_p.P1078P|NBEA_ENST00000379939.2_Silent_p.P1078P			Q8NFP9	NBEA_HUMAN	neurobeachin	1078						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ATTTATCACCGGAGACTTTAG	0.403													3	63					0	0	0.009096	0	0	A	35733542	G	A	35733542	2	1	142	1	0	0	0	0	0	0	0	1	10235	1103	39	1		1	NBEA	13	35733542	Silent	SNP	G	TCGA-G9-6378-01A-11D-1786-08		35733542	79436336	26	6848											
ZFYVE26	23503	broad.mit.edu	37	chr14	68220894	68220894	+	Missense_Mutation	SNP	G	G	T																															cgcaccgatgcaagaacctgGtcacttccatctgcagctga																										TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr14:68220894G>T	ENST00000347230.4	-	38	7160	c.7022C>A	c.(7021-7023)aCc>aAc	p.T2341N	ZFYVE26_ENST00000557306.1_Missense_Mutation_p.T187N	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2341					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	p.T2341N(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CAAGAACCTGGTCACTTCCAT	0.527													27	188					1.77063e-15	2.20426e-15	0.108266	1	0	T	68220894	G	T	68220894	3	4	142	1	0	0	0	0	1	0	0	0	17726	1261	44	4	617	4	ZFYVE26	14	68220894	Missense_Mutation	SNP	G	TCGA-G9-6378-01A-11D-1786-08		68220894	39128646	27	6849	37	2									
ZFYVE26	23503	broad.mit.edu	37	chr14	68220896	68220896	+	Silent	SNP	C	C	A																															caccgatgcaagaacctggtCacttccatctgcagctgaag																										TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr14:68220896C>A	ENST00000347230.4	-	38	7158	c.7020G>T	c.(7018-7020)gtG>gtT	p.V2340V	ZFYVE26_ENST00000557306.1_Silent_p.V186V	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2340					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	p.V2340V(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		AGAACCTGGTCACTTCCATCT	0.522													26	187					2.79863e-10	3.41433e-10	0.099896	1	0	A	68220896	C	A	68220896	2	1	142	1	0	0	0	0	0	0	0	1	17726	813	29	4		4	ZFYVE26	14	68220896	Silent	SNP	C	TCGA-G9-6378-01A-11D-1786-08	2	68220896	39128644	28	6850	37	2									
LRRC57	255252	broad.mit.edu	37	chr15	42839684	42839684	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgattgttgtttaggcttagCgtctctagttttttcagatt	6	21	9	5	1	2	2	1	1	1	1	3	2	2	2	0	1	1	4	0	1	3	10			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr15:42839684C>A	ENST00000323443.2	-	3	634	c.267G>T	c.(265-267)acG>acT	p.T89T	LRRC57_ENST00000397130.3_Silent_p.T89T|LRRC57_ENST00000563454.1_Silent_p.T89T			Q8N9N7	LRC57_HUMAN	leucine rich repeat containing 57	89								p.T89T(1)		breast(1)|kidney(1)|lung(5)|prostate(1)	8		all_cancers(109;1.99e-12)|all_epithelial(112;5.11e-11)|Lung NSC(122;4.53e-07)|all_lung(180;1.64e-06)|Melanoma(134;0.0262)		GBM - Glioblastoma multiforme(94;6.87e-07)		TTAGGCTTAGCGTCTCTAGTT	0.438													14	95					0.000219431	0.000243369	0.11911	1	0	A	42839684	C	A	42839684	2	1	142	1	0	0	0	0	0	0	0	1	9058	755	27	4		4	LRRC57	15	42839684	Silent	SNP	C	TCGA-G9-6378-01A-11D-1786-08		42839684	59691708	29	6851											
GLDN	342035	broad.mit.edu	37	chr15	51676022	51676022	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgccaggacacaacggattGgatggacagcctggtcctca	10	8	12	11	1	1	0	1	0	0	0	2	4	2	4	3	5	3	0	3	5	1	2			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr15:51676022G>A	ENST00000335449.6	+	4	530	c.474G>A	c.(472-474)ttG>ttA	p.L158L	GLDN_ENST00000396399.2_Silent_p.L34L	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	158	Collagen-like 1.				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane		p.L158L(1)		central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		ACAACGGATTGGATGGACAGC	0.433													9	44					0	0	0.080935	0	0	A	51676022	G	A	51676022	2	1	142	1	0	0	0	0	0	0	0	1	6476	1339	47	2		2	GLDN	15	51676022	Silent	SNP	G	TCGA-G9-6378-01A-11D-1786-08	8836338	51676022	50855370	30	6852											
DMXL2	23312	broad.mit.edu	37	chr15	51795002	51795002	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccagtcttaaagtgaccttaCctgctgaaggcgttgctctt	8	13	9	11	1	2	2	0	2	2	0	2	2	2	2	3	1	3	3	3	1	4	4			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr15:51795002C>T	ENST00000251076.5	-	17	3280		c.e17+1		DMXL2_ENST00000449909.3_Intron|DMXL2_ENST00000543779.2_Splice_Site	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2							cell junction|synaptic vesicle membrane	Rab GTPase binding	p.?(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		AGTGACCTTACCTGCTGAAGG	0.393													12	74					0	0	0.105934	0	0	T	51795002	C	T	51795002	5	4	142	1	0	0	0	0	0	0	1	0	4623	521	18	2	6228	2	DMXL2	15	51795002	Splice_Site	SNP	C	TCGA-G9-6378-01A-11D-1786-08	118980	51795002	50736390	31	6853											
CYP1A1	1543	broad.mit.edu	37	chr15	75013056	75013056	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacttaacaccttgtcgataGcaccatcaggggtgagaaac	13	8	9	11	1	1	1	1	1	0	1	2	3	1	1	2	2	3	1	2	2	3	3			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr15:75013056G>A	ENST00000379727.3	-	7	1511	c.1313C>T	c.(1312-1314)gCt>gTt	p.A438V	CYP1A1_ENST00000395049.4_Missense_Mutation_p.A409V|CYP1A1_ENST00000395048.2_Missense_Mutation_p.A438V|CYP1A1_ENST00000567032.1_Missense_Mutation_p.A438V			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	438					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity	p.A438V(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	CTTGTCGATAGCACCATCAGG	0.522									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				36	157					0	0	0.09836	0	0	A	75013056	G	A	75013056	3	1	142	1	0	0	0	0	1	0	0	0	4172	971	34	2	229	2	CYP1A1	15	75013056	Missense_Mutation	SNP	G	TCGA-G9-6378-01A-11D-1786-08	23218054	75013056	27518336	32	6854											
AP3B2	8120	broad.mit.edu	37	chr15	83349301	83349301	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcgccaggtggaagtagagCtgcgccaccgccatcaccac	9	4	13	15	3	1	1	1	0	0	1	1	2	1	2	5	3	2	2	5	3	2	1			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr15:83349301C>G	ENST00000261722.3	-	8	1185	c.978G>C	c.(976-978)caG>caC	p.Q326H	RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Missense_Mutation_p.Q326H|AP3B2_ENST00000535348.1_Missense_Mutation_p.Q294H	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	326					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity	p.Q326H(2)		breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			GGAAGTAGAGCTGCGCCACCG	0.706													3	15					0	0	0.115264	0	0	G	83349301	C	G	83349301	3	3	142	1	0	0	0	0	1	0	0	0	741	796	28	4	2270	4	AP3B2	15	83349301	Missense_Mutation	SNP	C	TCGA-G9-6378-01A-11D-1786-08	8336245	83349301	19182091	33	6855											
TXNDC11	51061	broad.mit.edu	37	chr16	11782231	11782236	+	In_Frame_Del	DEL	GGCAGA	GGCAGA	-																															aaatgctgagacgggaactgGgcagagccacttccaatgag																										TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr16:11782231_11782236delGGCAGA	ENST00000356957.3	-	10	2154_2159	c.2047_2052delTCTGCC	c.(2047-2052)del	p.SA683del	TXNDC11_ENST00000283033.5_In_Frame_Del_p.SA656del|TXNDC11_ENST00000570917.1_5'UTR			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	683	Thioredoxin 2.				cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						ACGGGAACTGGGCAGAGCCACTTCCA	0.398													13	91	---	---	---	---						-	11782236	GGCAGA	-	11782231	7	5	142	1	0	1	0	1	0	0	0	0	16854	1219	43	0	921	0	TXNDC11	16	11782231	In_Frame_Del	DEL	GGCAGA	TCGA-G9-6378-01A-11D-1786-08		11782231	78572522	34	6856											
KRTAP9-3	83900	broad.mit.edu	37	chr17	39388891	39388891	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccagctgctgccagccttgCtgccacccaacttgctgtca	6	10	8	17	0	1	0	1	0	0	0	2	0	2	0	5	0	8	4	5	0	1	2			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chr17:39388891C>T	ENST00000411528.2	+	1	177	c.138C>T	c.(136-138)tgC>tgT	p.C46C		NM_031962.2	NP_114168.1	Q9BYQ3	KRA93_HUMAN	keratin associated protein 9-3	46	16 X 5 AA repeats of C-C-[RQVSHE]-[SPTN]- [TASPI].					keratin filament	protein binding	p.C46C(1)		breast(1)|endometrium(3)|lung(2)|ovary(1)|prostate(1)	8		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			GCCAGCCTTGCTGCCACCCAA	0.622													14	93					0	0	0.105934	0	0	T	39388891	C	T	39388891	2	4	142	1	0	0	0	0	0	0	0	1	8613	805	28	2		2	KRTAP9-3	17	39388891	Silent	SNP	C	TCGA-G9-6378-01A-11D-1786-08		39388891	41806319	35	6857											
PRRG1	5638	broad.mit.edu	37	chrX	37285150	37285150	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acgctacccaagagctaatgGgttttttgaagaaataagac	15	10	9	7	1	0	4	0	1	0	3	0	4	0	4	1	1	2	3	1	1	6	6			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chrX:37285150G>A	ENST00000542554.1	+	4	340	c.68G>A	c.(67-69)gGg>gAg	p.G23E	PRRG1_ENST00000378628.4_Missense_Mutation_p.G23E|TM4SF2_ENST00000465127.1_Missense_Mutation_p.G23E|PRRG1_ENST00000463135.1_Missense_Mutation_p.G23E|PRRG1_ENST00000491253.1_Intron|PRRG1_ENST00000449135.2_Missense_Mutation_p.G23E|PRRG1_ENST00000543642.1_Missense_Mutation_p.G23E	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN	proline rich Gla (G-carboxyglutamic acid) 1	23	Gla.					extracellular region|integral to plasma membrane	calcium ion binding	p.G23E(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						AGAGCTAATGGGTTTTTTGAA	0.338													4	32					0	0	0.009096	0	0	A	37285150	G	A	37285150	3	1	142	1	0	0	0	0	1	0	0	0	12655	1232	43	2	74	2	PRRG1	23	37285150	Missense_Mutation	SNP	G	TCGA-G9-6378-01A-11D-1786-08		37285150	117985410	36	6858											
MID1IP1	58526	broad.mit.edu	37	chrX	38664272	38664272	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaatcgcttcattggcgccGtgaacaacatggaccagacg	11	8	11	11	4	1	3	1	2	0	1	2	4	1	4	2	2	2	1	2	2	3	2			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chrX:38664272G>A	ENST00000336949.6	+	2	1018	c.73G>A	c.(73-75)Gtg>Atg	p.V25M	MID1IP1_ENST00000457894.1_Missense_Mutation_p.V25M|MID1IP1_ENST00000378474.3_Missense_Mutation_p.V25M	NM_021242.4	NP_067065.1	Q9NPA3	M1IP1_HUMAN	MID1 interacting protein 1	25					lipid biosynthetic process|negative regulation of microtubule depolymerization|positive regulation of fatty acid biosynthetic process|positive regulation of ligase activity|protein polymerization	cytosol|microtubule|nucleus		p.V25M(1)		kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7						CATTGGCGCCGTGAACAACAT	0.607													3	29					0	0	0.115264	0	0	A	38664272	G	A	38664272	3	1	142	1	0	0	0	0	1	0	0	0	9625	1145	40	1	75	1	MID1IP1	23	38664272	Missense_Mutation	SNP	G	TCGA-G9-6378-01A-11D-1786-08	1379122	38664272	116606288	37	6859											
HDAC8	55869	broad.mit.edu	37	chrX	71708813	71708813	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggtaatatttttcatctTgtatgccatcctgaatgggc	8	17	8	8	0	3	1	1	1	2	0	4	1	4	1	2	2	1	2	2	2	4	6			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chrX:71708813T>C	ENST00000439122.2	-	7	993	c.707A>G	c.(706-708)cAa>cGa	p.Q236R	HDAC8_ENST00000373583.1_Intron|HDAC8_ENST00000373559.4_Missense_Mutation_p.Q119R|HDAC8_ENST00000373560.2_Intron|HDAC8_ENST00000429103.2_Missense_Mutation_p.Q41R|HDAC8_ENST00000373561.4_Missense_Mutation_p.Q236R|HDAC8_ENST00000373589.4_Missense_Mutation_p.Q145R|HDAC8_ENST00000373573.3_Missense_Mutation_p.Q236R|HDAC8_ENST00000373571.1_Missense_Mutation_p.Q236R	NM_001166419.1	NP_001159891.1	Q9BY41	HDAC8_HUMAN	histone deacetylase 8	236	Histone deacetylase.				chromatin assembly or disassembly|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nuclear chromosome	histone deacetylase activity (H3-K16 specific)|metal ion binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding			breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1)	10	Renal(35;0.156)				Vorinostat(DB02546)	TTTTTCATCTTGTATGCCATC	0.438													3	68					0	0	0.115264	0	0	C	71708813	T	C	71708813	3	2	142	1	0	0	0	0	1	0	0	0	7054	1812	63	3	484	3	HDAC8	23	71708813	Missense_Mutation	SNP	T	TCGA-G9-6378-01A-11D-1786-08	33044541	71708813	83561747	38	6860											
MAGEA12	4111	broad.mit.edu	37	chrX	151900633	151900633	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggggaggacttggtgactcGgcagcaggcacctcccgcag	7	6	16	12	2	0	1	0	1	0	0	2	3	1	3	2	6	1	4	2	6	0	1			TCGA-G9-6378-01A-11D-1786-08	TCGA-G9-6378-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e0102ae-f348-417d-b442-b660a411fd1a	812bc9a9-75fc-4ab0-99d7-8e2d45c17f4c	g.chrX:151900633G>A	ENST00000393900.3	-	3	521	c.168C>T	c.(166-168)gcC>gcT	p.A56A	CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000357916.4_Silent_p.A56A|MAGEA12_ENST00000393869.3_Silent_p.A56A	NM_001166386.1	NP_001159858.1	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	56								p.A56A(1)		breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TTGGTGACTCGGCAGCAGGCA	0.612													24	59					0	0	0.076483	0	0	A	151900633	G	A	151900633	2	1	142	1	0	0	0	0	0	0	0	1	9212	1103	39	1		1	MAGEA12	23	151900633	Silent	SNP	G	TCGA-G9-6378-01A-11D-1786-08	80191820	151900633	3369927	39	6861											
DIO1	1733	broad.mit.edu	37	chr1	54360027	54360027	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggccatgggcgagaagacGggtatgaccaggaaccccca	11	4	14	12	2	0	3	0	1	0	2	0	5	0	4	4	4	1	1	4	4	3	1			TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr1:54360027G>A	ENST00000525202.1	+	1	144	c.145_splice	c.e1+1	p.T48_splice	DIO1_ENST00000532493.1_Silent_p.T48T|DIO1_ENST00000388876.3_Silent_p.T48T|DIO1_ENST00000524406.1_Intron|DIO1_ENST00000534069.1_3'UTR|DIO1_ENST00000361921.3_Silent_p.T48T|DIO1_ENST00000322679.6_Silent_p.T48T			P49895	IOD1_HUMAN	deiodinase, iodothyronine, type I	48					hormone biosynthetic process|thyroid hormone generation	endoplasmic reticulum membrane|integral to membrane|plasma membrane	selenium binding|thyroxine 5'-deiodinase activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1)	9						GCGAGAAGACGGGTATGACCA	0.527													14	64					0	0	1	0	0	A	54360027	G	A	54360027	5	1	143	1	0	0	0	0	0	0	1	0	4552	1130	39	1	146	1	DIO1	1	54360027	Splice_Site	SNP	G	TCGA-G9-6379-01A-11D-A31L-08		54360027	194890594	1	6862											
TTC7A	57217	broad.mit.edu	37	chr2	47278910	47278910	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcgggcttcgtccatcgcCgcctcccggctggaggaggc	3	6	16	16	6	0	0	0	0	0	0	4	2	2	2	4	6	0	2	4	6	0	1			TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr2:47278910C>T	ENST00000319190.5	+	18	2411	c.2043C>T	c.(2041-2043)gcC>gcT	p.A681A	TTC7A_ENST00000263737.6_Silent_p.A327A|TTC7A_ENST00000409245.1_Silent_p.A647A|TTC7A_ENST00000394850.2_Silent_p.A705A	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	681							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			CGTCCATCGCCGCCTCCCGGC	0.657													16	57					0	0	1	0	0	T	47278910	C	T	47278910	2	4	143	1	0	0	0	0	0	0	0	1	16774	639	23	1		1	TTC7A	2	47278910	Silent	SNP	C	TCGA-G9-6379-01A-11D-A31L-08		47278910	195920463	2	6863											
SCN11A	11280	broad.mit.edu	37	chr3	38924806	38924806	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatttggtagcaggttttcCgcaggttccaccaaatgacc	9	12	9	11	1	0	1	0	1	0	0	2	1	2	1	4	3	1	5	4	3	3	6	rs147061364	byFrequency	TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr3:38924806C>T	ENST00000450244.1	-	18	3335	c.3137G>A	c.(3136-3138)cGg>cAg	p.R1046Q	SCN11A_ENST00000456224.3_Missense_Mutation_p.R1008Q|SCN11A_ENST00000444237.2_Missense_Mutation_p.R1046Q|SCN11A_ENST00000302328.3_Missense_Mutation_p.R1046Q			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1046					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GCAGGTTTTCCGCAGGTTCCA	0.453													6	69					0	0	1	0	0	T	38924806	C	T	38924806	3	4	143	1	0	0	0	0	1	0	0	0	13967	652	23	1	2274	1	SCN11A	3	38924806	Missense_Mutation	SNP	C	TCGA-G9-6379-01A-11D-A31L-08		38924806	159097624	3	6864											
PAQR9	344838	broad.mit.edu	37	chr3	142681387	142681387	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggttctccccacgcaggtcGaagagccagctctcgagcat	8	7	12	14	3	2	1	0	0	2	1	5	3	2	1	3	2	3	4	3	2	1	1			TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr3:142681387G>A	ENST00000340634.3	-	1	791	c.792C>T	c.(790-792)ttC>ttT	p.F264F		NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	264						integral to membrane	receptor activity			endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						CACGCAGGTCGAAGAGCCAGC	0.622													4	84					0	0	1	0	0	A	142681387	G	A	142681387	2	1	143	1	0	0	0	0	0	0	0	1	11489	1049	37	1		1	PAQR9	3	142681387	Silent	SNP	G	TCGA-G9-6379-01A-11D-A31L-08	103756581	142681387	55341043	4	6865											
HHIP	64399	broad.mit.edu	37	chr4	145629382	145629382	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catgtgcaacgtgccttattCcataccaaggagcaacccac	12	8	7	14	1	0	0	0	0	0	0	1	1	1	1	4	1	6	2	4	1	5	3			TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr4:145629382C>A	ENST00000296575.3	+	7	1875	c.1220C>A	c.(1219-1221)tCc>tAc	p.S407Y		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	407						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GTGCCTTATTCCATACCAAGG	0.507													8	59					5.4927e-09	6.08651e-09	1	1	0	A	145629382	C	A	145629382	3	1	143	1	0	0	0	0	1	0	0	0	7133	855	30	4	1246	4	HHIP	4	145629382	Missense_Mutation	SNP	C	TCGA-G9-6379-01A-11D-A31L-08		145629382	45524894	5	6866											
CCDC112	153733	broad.mit.edu	37	chr5	114611297	114611297	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctcttctttaattagctcTtcatatctaaaattttaaaa	13	20	1	7	0	5	0	1	0	4	0	6	0	5	0	0	0	1	1	0	0	7	10			TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr5:114611297T>A	ENST00000379611.5	-	6	821	c.534A>T	c.(532-534)gaA>gaT	p.E178D	CCDC112_ENST00000395557.4_Missense_Mutation_p.E95D|CCDC112_ENST00000506442.1_Missense_Mutation_p.E95D|CCDC112_ENST00000503027.1_5'UTR|CCDC112_ENST00000512261.1_Missense_Mutation_p.E95D	NM_001040440.2	NP_001035530.1	Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112	95										endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		TAATTAGCTCTTCATATCTAA	0.289													5	40					0	0	1	0	0	A	114611297	T	A	114611297	3	1	143	1	0	0	0	0	1	0	0	0	2767	1606	56	5	1075	5	CCDC112	5	114611297	Missense_Mutation	SNP	T	TCGA-G9-6379-01A-11D-A31L-08		114611297	66303963	6	6867											
ATP10B	23120	broad.mit.edu	37	chr5	160047852	160047852	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgtgtcagagggtgcagTggatgagaatgactggctga	9	10	17	5	0	2	4	1	3	1	2	2	6	2	5	0	3	1	2	0	3	1	0			TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr5:160047852T>C	ENST00000327245.5	-	15	2764	c.1918A>G	c.(1918-1920)Act>Gct	p.T640A	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	640					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GAGGGTGCAGTGGATGAGAAT	0.552													10	154					0	0	1	0	0	C	160047852	T	C	160047852	3	2	143	1	0	0	0	0	1	0	0	0	1116	1696	59	3	2515	3	ATP10B	5	160047852	Missense_Mutation	SNP	T	TCGA-G9-6379-01A-11D-A31L-08	45436555	160047852	20867408	7	6868											
POM121L12	285877	broad.mit.edu	37	chr7	53103623	53103623	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcggcccacccaggaccccGccaagccgcagcgggtggtc	6	3	14	18	4	0	0	0	0	0	0	1	1	0	1	6	4	3	1	6	4	1	0			TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr7:53103623G>A	ENST00000408890.4	+	1	275	c.259G>A	c.(259-261)Gcc>Acc	p.A87T		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	87										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCAGGACCCCGCCAAGCCGCA	0.701													11	26					0	0	1	0	0	A	53103623	G	A	53103623	3	1	143	1	0	0	0	0	1	0	0	0	12289	1087	38	1	261	1	POM121L12	7	53103623	Missense_Mutation	SNP	G	TCGA-G9-6379-01A-11D-A31L-08		53103623	106035040	8	6869											
ABCB1	5243	broad.mit.edu	37	chr7	87225083	87225083	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taataaattcaaaactcaccAttgaaaatacactgacagtt	19	11	3	8	0	2	2	2	2	0	0	2	2	2	2	1	0	2	1	1	0	8	6			TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr7:87225083A>T	ENST00000265724.3	-	4	533	c.117_splice	c.e4+1	p.M39_splice	ABCB1_ENST00000543898.1_Splice_Site_p.M39_splice	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	39					G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	AAAACTCACCATTGAAAATAC	0.274													4	32					0	0	1	0	0	T	87225083	A	T	87225083	5	4	143	1	0	0	0	0	0	0	1	0	40	231	8	5	3830	5	ABCB1	7	87225083	Splice_Site	SNP	A	TCGA-G9-6379-01A-11D-A31L-08	34121460	87225083	71913580	9	6870											
PLXNA4	91584	broad.mit.edu	37	chr7	132169640	132169640	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctggactctctgatctgataTtgctttgtgacttgagcact	7	16	9	9	0	2	4	0	4	2	0	3	5	2	5	0	1	2	2	0	1	1	4			TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr7:132169640T>C	ENST00000378539.5	-	5	1880	c.1504A>G	c.(1504-1506)Ata>Gta	p.I502V	PLXNA4_ENST00000321063.4_Intron|PLXNA4_ENST00000423507.2_Intron|PLXNA4_ENST00000359827.3_Intron	NM_181775.3	NP_861440.2	Q9HCM2	PLXA4_HUMAN	plexin A4	0	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGATCTGATATTGCTTTGTGA	0.448													16	74					0	0	1	0	0	C	132169640	T	C	132169640	3	2	143	1	0	0	0	0	1	0	0	0	12170	1493	52	3	4610	3	PLXNA4	7	132169640	Missense_Mutation	SNP	T	TCGA-G9-6379-01A-11D-A31L-08	44944557	132169640	26969023	10	6871											
RP1L1	94137	broad.mit.edu	37	chr8	10480545	10480545	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgaaggtcttaaaggcgCgctggtgaacggccaggcgg	8	6	17	10	5	1	2	0	2	1	0	1	2	1	2	1	6	1	2	1	6	4	1			TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr8:10480545C>T	ENST00000382483.3	-	2	390	c.167G>A	c.(166-168)cGc>cAc	p.R56H	RP1L1_ENST00000329335.3_5'UTR	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	56					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTTAAAGGCGCGCTGGTGAAC	0.652													10	68					0	0	1	0	0	T	10480545	C	T	10480545	3	4	143	1	0	0	0	0	1	0	0	0	13585	768	27	1	7047	1	RP1L1	8	10480545	Missense_Mutation	SNP	C	TCGA-G9-6379-01A-11D-A31L-08		10480545	135883477	11	6872											
LZTS2	84445	broad.mit.edu	37	chr10	102762582	102762582	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctacatcaatgaggacttccGgacagagtcaccccccagcc	11	6	8	16	1	2	2	2	1	0	1	3	4	3	4	5	2	2	0	5	2	2	2			TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr10:102762582G>A	ENST00000370220.1	+	1	3350	c.287G>A	c.(286-288)cGg>cAg	p.R96Q	LZTS2_ENST00000370223.3_Missense_Mutation_p.R96Q			Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	96	Required for centrosomal localization (By similarity).				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		GAGGACTTCCGGACAGAGTCA	0.627													13	47					0	0	1	0	0	A	102762582	G	A	102762582	3	1	143	1	0	0	0	0	1	0	0	0	9185	1116	39	1	289	1	LZTS2	10	102762582	Missense_Mutation	SNP	G	TCGA-G9-6379-01A-11D-A31L-08		102762582	32772165	12	6873											
OR4S2	219431	broad.mit.edu	37	chr11	55419263	55419263	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaatgcagaagtaaagaatgCaatgaagaaactgtggggca	19	6	12	4	0	0	4	0	1	0	3	0	4	0	4	0	2	3	4	0	2	8	1			TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr11:55419263C>A	ENST00000312422.2	+	1	884	c.884C>A	c.(883-885)gCa>gAa	p.A295E		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				GTAAAGAATGCAATGAAGAAA	0.363													13	217					0.000151284	0.000159043	1	1	0	A	55419263	C	A	55419263	3	1	143	1	0	0	0	0	1	0	0	0	11131	710	25	4	886	4	OR4S2	11	55419263	Missense_Mutation	SNP	C	TCGA-G9-6379-01A-11D-A31L-08		55419263	79587253	13	6874											
MPEG1	219972	broad.mit.edu	37	chr11	58978841	58978841	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtctcagtggaaagtagcCggctgggcatgactgtgcat	9	9	15	8	1	1	1	1	1	1	0	2	3	1	2	1	3	2	4	1	3	2	1			TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr11:58978841C>T	ENST00000361050.3	-	1	1583	c.1498G>A	c.(1498-1500)Ggc>Agc	p.G500S		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	500						integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				GGAAAGTAGCCGGCTGGGCAT	0.512													9	89					0	0	1	0	0	T	58978841	C	T	58978841	3	4	143	1	0	0	0	0	1	0	0	0	9772	652	23	1	656	1	MPEG1	11	58978841	Missense_Mutation	SNP	C	TCGA-G9-6379-01A-11D-A31L-08	3559578	58978841	76027675	14	6875											
VPS11	55823	broad.mit.edu	37	chr11	118949955	118949955	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatgagctgcgggtgcggCggtaccgagaggagaccacc	9	4	18	10	4	0	3	0	1	0	2	0	6	0	4	3	5	4	2	3	5	1	1			TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr11:118949955C>A	ENST00000300793.6	+	15	2422	c.2380C>A	c.(2380-2382)Cgg>Agg	p.R794R	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	795					protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		GCGGGTGCGGCGGTACCGAGA	0.582													3	13					0.00024832	0.000254528	1	1	0	A	118949955	C	A	118949955	2	1	143	1	0	0	0	0	0	0	0	1	17248	759	27	4		4	VPS11	11	118949955	Silent	SNP	C	TCGA-G9-6379-01A-11D-A31L-08	59971114	118949955	16056561	15	6876											
DHH	50846	broad.mit.edu	37	chr12	49485161	49485161	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggccaaagcgttcacccgCtccttacaacgctggcgggg	8	7	12	14	4	1	0	1	0	0	0	2	0	2	0	3	4	3	3	3	4	3	2			TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr12:49485161C>T	ENST00000266991.2	-	2	621	c.315G>A	c.(313-315)gaG>gaA	p.E105E	RP11-386G11.8_ENST00000553174.1_RNA	NM_021044.2	NP_066382.1	O43323	DHH_HUMAN	desert hedgehog	105					cell-cell signaling|proteolysis	extracellular space|plasma membrane	calcium ion binding|peptidase activity|zinc ion binding			breast(1)|large_intestine(3)|lung(4)	8						CGTTCACCCGCTCCTTACAAC	0.587													4	26					0	0	1	0	0	T	49485161	C	T	49485161	2	4	143	1	0	0	0	0	0	0	0	1	4511	796	28	2		2	DHH	12	49485161	Silent	SNP	C	TCGA-G9-6379-01A-11D-A31L-08		49485161	84366734	16	6877											
SP1	0	broad.mit.edu	37	chr12	53777378	53777378	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caggtgcacccaattcaaggCctgccgttggctatagcaaa	11	8	10	12	1	1	0	1	0	0	0	1	0	1	0	3	3	3	4	3	3	5	4			TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr12:53777378C>G	ENST00000426431.2	+	3	1686	c.1626C>G	c.(1624-1626)ggC>ggG	p.G542G	SP1_ENST00000327443.4_Silent_p.G549G	NM_003109.1	NP_003100.1	P08047	SP1_HUMAN	Sp1 transcription factor	549	Transactivation domain C (highly charged).				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		CAATTCAAGGCCTGCCGTTGG	0.478													16	81					0	0	1	0	0	G	53777378	C	G	53777378	2	3	143	1	0	0	0	0	0	0	0	1	15013	726	26	4		4	SP1	12	53777378	Silent	SNP	C	TCGA-G9-6379-01A-11D-A31L-08	4292217	53777378	80074517	17	6878											
HOXC8	3224	broad.mit.edu	37	chr12	54403269	54403269	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccacggcacctccggcatCtccaactcaggctaccagca	10	5	7	19	2	2	0	1	0	1	0	4	0	3	0	5	3	3	4	5	3	2	1			TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr12:54403269C>A	ENST00000040584.4	+	1	438	c.201C>A	c.(199-201)atC>atA	p.I67I		NM_022658.3	NP_073149.1	P31273	HXC8_HUMAN	homeobox C8	67						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	8						CCTCCGGCATCTCCAACTCAG	0.637													15	260					2.23348e-06	2.40981e-06	1	1	0	A	54403269	C	A	54403269	2	1	143	1	0	0	0	0	0	0	0	1	7357	903	32	4		4	HOXC8	12	54403269	Silent	SNP	C	TCGA-G9-6379-01A-11D-A31L-08	625891	54403269	79448626	18	6879											
PIWIL1	9271	broad.mit.edu	37	chr12	130830316	130830316	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggactccagatatctgctgGatttcaggagttatcgttag	10	13	11	7	1	2	1	1	0	1	1	4	4	3	4	1	3	1	3	1	3	3	4			TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr12:130830316G>A	ENST00000245255.3	+	4	481	c.209G>A	c.(208-210)gGa>gAa	p.G70E		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	70					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		ATATCTGCTGGATTTCAGGAG	0.378													14	57					0	0	1	0	0	A	130830316	G	A	130830316	3	1	143	1	0	0	0	0	1	0	0	0	12005	1174	41	2	219	2	PIWIL1	12	130830316	Missense_Mutation	SNP	G	TCGA-G9-6379-01A-11D-A31L-08	76427047	130830316	3021579	19	6880											
CSNK1A1L	122011	broad.mit.edu	37	chr13	37678967	37678967	+	Frame_Shift_Del	DEL	G	G	-																															gtgacgcccagtacccatcaGgaagttatctggtttaatgt																										TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr13:37678967delG	ENST00000379800.3	-	1	836	c.427delC	c.(427-429)tgfs	p.L143fs		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	143	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		GTACCCATCAGGAAGTTATCT	0.408													9	120	---	---	---	---						-	37678967	G	-	37678967	7	5	143	1	0	1	0	1	0	0	0	0	3976	991	35	0	590	0	CSNK1A1L	13	37678967	Frame_Shift_Del	DEL	G	TCGA-G9-6379-01A-11D-A31L-08		37678967	77490911	20	6881											
KCNH5	27133	broad.mit.edu	37	chr14	63453881	63453881	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctatttgtcaaagcccgtGtcaatcgggcaaatttcgtc	9	12	10	10	3	2	0	2	0	0	0	5	0	2	0	1	2	1	2	1	2	4	3			TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr14:63453881G>T	ENST00000322893.7	-	5	726	c.458C>A	c.(457-459)aCa>aAa	p.T153K	KCNH5_ENST00000394968.1_Missense_Mutation_p.T95K|KCNH5_ENST00000420622.2_Missense_Mutation_p.T153K|KCNH5_ENST00000394964.2_Missense_Mutation_p.T95K	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	153					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CAAAGCCCGTGTCAATCGGGC	0.378													10	60					0.0692343	0.0692343	1	1	0	T	63453881	G	T	63453881	3	4	143	1	0	0	0	0	1	0	0	0	8079	1377	48	4	2570	4	KCNH5	14	63453881	Missense_Mutation	SNP	G	TCGA-G9-6379-01A-11D-A31L-08		63453881	43895659	21	6882											
STAT3	6774	broad.mit.edu	37	chr17	40475084	40475084	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctttgctgctttcactgaatCttagcaggaaggtgcctgga	8	13	11	9	0	2	1	1	1	1	0	2	3	2	3	1	3	4	3	1	3	3	3			TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr17:40475084C>G	ENST00000264657.5	-	20	2138	c.1826G>C	c.(1825-1827)aGa>aCa	p.R609T	STAT3_ENST00000389272.3_Missense_Mutation_p.R511T|STAT3_ENST00000585517.1_Missense_Mutation_p.R609T|STAT3_ENST00000588969.1_Missense_Mutation_p.R609T|STAT3_ENST00000404395.3_Missense_Mutation_p.R609T	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	609	SH2.				cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		TTCACTGAATCTTAGCAGGAA	0.562									Hyperimmunoglobulin E Recurrent Infection Syndrome		OREG0024421	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	124					0	0	1	0	0	G	40475084	C	G	40475084	3	3	143	1	0	0	0	0	1	0	0	0	15322	913	32	4	506	4	STAT3	17	40475084	Missense_Mutation	SNP	C	TCGA-G9-6379-01A-11D-A31L-08		40475084	40720126	22	6883											
SCN4A	6329	broad.mit.edu	37	chr17	62018760	62018760	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaactgggtggcgtcggggtCgaacttctcccatgtctcgt	5	11	14	11	4	2	0	0	0	2	0	6	2	2	0	1	4	2	0	1	4	2	1			TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr17:62018760C>T	ENST00000578147.1	-	24	4958	c.4882G>A	c.(4882-4884)Gac>Aac	p.D1628N	SCN4A_ENST00000435607.1_Missense_Mutation_p.D1628N			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1628					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GCGTCGGGGTCGAACTTCTCC	0.562													10	61					0	0	1	0	0	T	62018760	C	T	62018760	3	4	143	1	0	0	0	0	1	0	0	0	13974	884	31	1	632	1	SCN4A	17	62018760	Missense_Mutation	SNP	C	TCGA-G9-6379-01A-11D-A31L-08	21543676	62018760	19176450	23	6884											
SLC14A2	8170	broad.mit.edu	37	chr18	43205697	43205697	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgtgaagatcgaaaagcTcaatgaaaggagtaaaagga	19	7	11	4	1	1	3	1	2	0	1	2	6	1	5	0	2	1	2	0	2	7	2			TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr18:43205697T>A	ENST00000255226.6	+	3	1016	c.200T>A	c.(199-201)cTc>cAc	p.L67H	SLC14A2_ENST00000586448.1_Missense_Mutation_p.L67H	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	67						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATCGAAAAGCTCAATGAAAGG	0.502													4	15					0	0	1	0	0	A	43205697	T	A	43205697	3	1	143	1	0	0	0	0	1	0	0	0	14452	1551	54	5	206	5	SLC14A2	18	43205697	Missense_Mutation	SNP	T	TCGA-G9-6379-01A-11D-A31L-08		43205697	34871551	24	6885											
SERPINB5	5268	broad.mit.edu	37	chr18	61160285	61160285	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggcaagtggatgaagaaatTttctgaatcagaaacaaaag	18	9	10	4	0	2	4	1	2	1	2	2	5	2	5	0	2	1	1	0	2	7	2			TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr18:61160285T>C	ENST00000382771.4	+	5	816	c.524T>C	c.(523-525)tTt>tCt	p.F175S	SERPINB5_ENST00000489441.1_Missense_Mutation_p.F175S|SERPINB5_ENST00000464346.1_3'UTR	NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	175					cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						ATGAAGAAATTTTCTGAATCA	0.403													29	99					0	0	1	0	0	C	61160285	T	C	61160285	3	2	143	1	0	0	0	0	1	0	0	0	14158	1841	64	3	538	3	SERPINB5	18	61160285	Missense_Mutation	SNP	T	TCGA-G9-6379-01A-11D-A31L-08	17954588	61160285	16916963	25	6886											
GTF2F1	2962	broad.mit.edu	37	chr19	6387480	6387480	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaattgtaccagttgtgcacGgggaaggcctcgaaggcccc	10	7	13	11	2	0	0	0	0	0	0	1	2	0	1	4	4	2	3	4	4	4	3			TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr19:6387480G>C	ENST00000394456.5	-	5	881	c.417C>G	c.(415-417)ccC>ccG	p.P139P	GTF2F1_ENST00000429701.2_Intron|CTB-180A7.6_ENST00000599584.1_RNA	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	139					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						AGTTGTGCACGGGGAAGGCCT	0.627													11	80					0	0	1	0	0	C	6387480	G	C	6387480	2	2	143	1	0	0	0	0	0	0	0	1	6899	1103	39	4		4	GTF2F1	19	6387480	Silent	SNP	G	TCGA-G9-6379-01A-11D-A31L-08		6387480	52741503	26	6887											
RYR1	6261	broad.mit.edu	37	chr19	38959779	38959779	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggagattgagattggggaCggtgagggctgagacccctt	8	8	18	7	2	0	4	0	3	0	3	0	8	0	5	2	5	0	1	2	5	0	3			TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr19:38959779C>T	ENST00000355481.4	+	26	3686	c.3556_splice	c.e26+1	p.D1185_splice	RYR1_ENST00000360985.3_Splice_Site_p.D1185_splice|RYR1_ENST00000359596.3_Splice_Site_p.D1185_splice	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1185	6 X approximate repeats.|B30.2/SPRY 2.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGATTGGGGACGGTGAGGGCT	0.557													5	57					0	0	1	0	0	T	38959779	C	T	38959779	5	4	143	1	0	0	0	0	0	0	1	0	13820	550	19	1	3657	1	RYR1	19	38959779	Splice_Site	SNP	C	TCGA-G9-6379-01A-11D-A31L-08	32572299	38959779	20169204	27	6888											
BCAM	4059	broad.mit.edu	37	chr19	45317538	45317538	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggagtatacgcttttccGccttcaggtgacccacccaa	8	9	8	16	3	1	1	1	1	0	0	2	2	2	2	5	2	1	2	5	2	3	5			TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chr19:45317538G>A	ENST00000391955.1	+	7	958	c.914G>A	c.(913-915)cGc>cAc	p.R305H	BCAM_ENST00000270233.6_Missense_Mutation_p.R305H			P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	305	Ig-like C2-type 1.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				ACGCTTTTCCGCCTTCAGGTG	0.652													7	87					0	0	1	0	0	A	45317538	G	A	45317538	3	1	143	1	0	0	0	0	1	0	0	0	1342	1087	38	1	940	1	BCAM	19	45317538	Missense_Mutation	SNP	G	TCGA-G9-6379-01A-11D-A31L-08	6357759	45317538	13811445	28	6889											
TSPY2	64591	broad.mit.edu	37	chrY	6114373	6114373	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcggcagggttcctgtggcGtgggtcgggcagcacaggcc	4	7	19	11	3	0	0	0	0	0	0	2	0	1	0	2	6	2	4	2	6	0	1			TCGA-G9-6379-01A-11D-A31L-08	TCGA-G9-6379-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184256e3-08e8-423a-bb1e-fbcf52d671d7	68f54bda-df0c-4b1e-a81e-9d90763711ac	g.chrY:6114373G>A	ENST00000320701.4	+	1	110	c.64G>A	c.(64-66)Gtg>Atg	p.V22M	TSPY2_ENST00000383042.1_Missense_Mutation_p.V22M	NM_022573.2	NP_072095.2	A6NKD2	TSPY2_HUMAN	testis specific protein, Y-linked 2	22					cell differentiation|gonadal mesoderm development|nucleosome assembly|spermatogenesis	cytoplasm|nucleus		p.V22L(1)		liver(1)|lung(4)|prostate(1)|skin(1)	7						TTCCTGTGGCGTGGGTCGGGC	0.711													11	20					0	0	1	0	0	A	6114373	G	A	6114373	3	1	143	1	0	0	0	0	1	0	0	0	16719	1145	40	1	66	1	TSPY2	24	6114373	Missense_Mutation	SNP	G	TCGA-G9-6379-01A-11D-A31L-08		6114373	53259193	29	6890											
LRRC47	57470	broad.mit.edu	37	chr1	3697704	3697704	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggccaggtcggccttggacGggtacaccaccttcaggctc	6	8	13	14	2	1	0	1	0	0	0	3	1	1	1	4	6	1	2	4	6	1	3			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr1:3697704G>C	ENST00000378251.1	-	7	1727	c.1700C>G	c.(1699-1701)cCg>cGg	p.P567R		NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	567					translation		phenylalanine-tRNA ligase activity|RNA binding	p.P567R(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		GGCCTTGGACGGGTACACCAC	0.652													17	69					0	0	0.539581	0	0	C	3697704	G	C	3697704	3	2	144	1	0	0	0	0	1	0	0	0	9049	1116	39	4	55	4	LRRC47	1	3697704	Missense_Mutation	SNP	G	TCGA-G9-6384-01A-11D-1786-08		3697704	245552917	1	6891											
SPAG17	200162	broad.mit.edu	37	chr1	118554950	118554950	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atccactatccgagtaccatCtttcctttcaactatgacaa	12	13	3	13	1	2	1	1	1	1	0	5	2	5	1	4	0	2	1	4	0	5	5			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr1:118554950C>G	ENST00000336338.5	-	30	4398	c.4333G>C	c.(4333-4335)Gat>Cat	p.D1445H		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1445						cilium|flagellar axoneme|microtubule		p.D1445H(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CGAGTACCATCTTTCCTTTCA	0.393													14	50					0	0	0.457914	0	0	G	118554950	C	G	118554950	3	3	144	1	0	0	0	0	1	0	0	0	15035	913	32	4	2414	4	SPAG17	1	118554950	Missense_Mutation	SNP	C	TCGA-G9-6384-01A-11D-1786-08	114857246	118554950	130695671	2	6892											
CD1B	910	broad.mit.edu	37	chr1	158299693	158299693	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggacgcccaagagatatcGggggcaggtttcatagagga	12	6	16	7	2	1	2	1	0	0	2	2	6	1	4	1	5	0	2	1	5	3	3			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr1:158299693G>A	ENST00000368168.3	-	3	663	c.556C>T	c.(556-558)Cga>Tga	p.R186*		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	186	Ig-like.				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding	p.R186*(1)		breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					AAGAGATATCGGGGGCAGGTT	0.463													25	135					0	0	0.654019	0	0	A	158299693	G	A	158299693	4	1	144	1	0	0	0	0	0	1	0	0	2997	1124	39	1	461	1	CD1B	1	158299693	Nonsense_Mutation	SNP	G	TCGA-G9-6384-01A-11D-1786-08	39744743	158299693	90950928	3	6893											
PRRX1	5396	broad.mit.edu	37	chr1	170688957	170688957	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagctgcaggctttggagcGtgtctttgagcggacacact	7	10	13	11	2	1	1	0	1	1	0	1	3	1	3	1	3	4	3	1	3	0	2			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr1:170688957G>A	ENST00000239461.6	+	2	645	c.332G>A	c.(331-333)cGt>cAt	p.R111H	PRRX1_ENST00000497230.2_Missense_Mutation_p.R111H|PRRX1_ENST00000367760.3_Missense_Mutation_p.R111H	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1	111						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.R111H(1)		large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GCTTTGGAGCGTGTCTTTGAG	0.512													20	61					0	0	0.592651	0	0	A	170688957	G	A	170688957	3	1	144	1	0	0	0	0	1	0	0	0	12662	1145	40	1	338	1	PRRX1	1	170688957	Missense_Mutation	SNP	G	TCGA-G9-6384-01A-11D-1786-08	12389264	170688957	78561664	4	6894											
TRIB2	28951	broad.mit.edu	37	chr2	12863619	12863619	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtggcccactgccatgaCggggggctggtgctgcggga	5	6	19	11	2	0	1	0	1	0	0	0	2	0	2	2	6	3	3	2	6	0	0			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr2:12863619C>T	ENST00000155926.4	+	2	1923	c.504C>T	c.(502-504)gaC>gaT	p.D168D	TRIB2_ENST00000405331.3_Silent_p.D168D|TRIB2_ENST00000381465.2_Silent_p.D32D	NM_021643.3	NP_067675.1	Q92519	TRIB2_HUMAN	tribbles pseudokinase 2	168	Protein kinase.				negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	p.D168D(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ACTGCCATGACGGGGGGCTGG	0.577													15	76					0	0	0.479597	0	0	T	12863619	C	T	12863619	2	4	144	1	0	0	0	0	0	0	0	1	16544	535	19	1		1	TRIB2	2	12863619	Silent	SNP	C	TCGA-G9-6384-01A-11D-1786-08		12863619	230335754	5	6895											
CADM2	253559	broad.mit.edu	37	chr3	86114827	86114827	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatagtggctgtagttgtatTtgtcacgctgtgttctatct	7	18	10	6	1	3	0	1	0	2	0	3	0	3	0	0	1	0	6	0	1	5	7			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr3:86114827T>G	ENST00000383699.3	+	9	1670	c.1043T>G	c.(1042-1044)tTt>tGt	p.F348C	CADM2_ENST00000407528.2_Missense_Mutation_p.F379C|CADM2_ENST00000405615.2_Missense_Mutation_p.F381C	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	379	Thr-rich.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane		p.F381C(2)|p.F348C(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		GTAGTTGTATTTGTCACGCTG	0.423													4	48					0	0	0.150653	0	0	G	86114827	T	G	86114827	3	3	144	1	0	0	0	0	1	0	0	0	2585	1841	64	5	1241	5	CADM2	3	86114827	Missense_Mutation	SNP	T	TCGA-G9-6384-01A-11D-1786-08		86114827	111907603	6	6896											
SDHA	6389	broad.mit.edu	37	chr5	228381	228381	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggggagtgccgtggtgtcAtcgcactgtgcatagaggac	8	9	16	8	2	1	1	1	0	0	1	2	3	1	3	1	4	2	2	1	4	1	1			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	19e9336f-2e5d-497a-a5ed-4490e8d27f2b	g.chr5:228381A>T	ENST00000264932.6	+	6	818	c.703A>T	c.(703-705)Atc>Ttc	p.I235F	SDHA_ENST00000510361.1_Missense_Mutation_p.I187F|SDHA_ENST00000504309.1_Missense_Mutation_p.I235F	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	235					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	CCGTGGTGTCATCGCACTGTG	0.428									Familial Paragangliomas				5	53					0	0	0.184627	0	0	T	228381	A	T	228381	3	4	144	1	0	0	0	0	1	0	0	0	14017	217	8	5	725	5	SDHA	5	228381	Missense_Mutation	SNP	A	TCGA-G9-6384-01A-11D-1786-08		228381	180686879	7	6897											
FAM174A	345757	broad.mit.edu	37	chr5	99871330	99871330	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctaagcgggcccctggcagtCctgctgcaggcagccgaggc	6	5	15	15	2	0	0	0	0	0	0	1	1	1	0	4	4	4	4	4	4	1	1			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr5:99871330C>T	ENST00000312637.4	+	1	322	c.96C>T	c.(94-96)gtC>gtT	p.V32V		NM_198507.1	NP_940909.1	Q8TBP5	F174A_HUMAN	family with sequence similarity 174, member A	32						integral to membrane		p.V32V(1)		breast(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CCCTGGCAGTCCTGCTGCAGG	0.672													7	82					0	0	0.335167	0	0	T	99871330	C	T	99871330	2	4	144	1	0	0	0	0	0	0	0	1	5525	842	30	2		2	FAM174A	5	99871330	Silent	SNP	C	TCGA-G9-6384-01A-11D-1786-08	99642949	99871330	81043930	8	6898											
PCDHA6	0	broad.mit.edu	37	chr5	140209661	140209661	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagccggcgctgacagcgaCggccacggttctggtgtcgc	5	7	16	13	6	1	2	0	2	1	0	2	3	1	2	2	4	2	2	2	4	0	1			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr5:140209661C>T	ENST00000529310.1	+	1	2099	c.1985C>T	c.(1984-1986)aCg>aTg	p.T662M	PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1												p.T662M(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGACAGCGACGGCCACGGTT	0.697													23	69					0	0	0.624587	0	0	T	140209661	C	T	140209661	3	4	144	1	0	0	0	0	1	0	0	0	11575	536	19	1	1987	1	PCDHA6	5	140209661	Missense_Mutation	SNP	C	TCGA-G9-6384-01A-11D-1786-08	40338331	140209661	40705599	9	6899											
PCDHGB3	0	broad.mit.edu	37	chr5	140751900	140751900	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgcctgctggtcactgtgCgtgatggaggacagcagcct	7	8	15	11	2	1	1	1	1	0	0	1	3	1	3	2	3	5	2	2	3	0	0			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr5:140751900C>T	ENST00000576222.1	+	1	2070	c.1939C>T	c.(1939-1941)Cgt>Tgt	p.R647C	PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTCACTGTGCGTGATGGAGG	0.652													14	89					0	0	0.479597	0	0	T	140751900	C	T	140751900	3	4	144	1	0	0	0	0	1	0	0	0	11611	768	27	1	1941	1	PCDHGB3	5	140751900	Missense_Mutation	SNP	C	TCGA-G9-6384-01A-11D-1786-08	542239	140751900	40163360	10	6900											
ATP10B	23120	broad.mit.edu	37	chr5	160033839	160033839	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatactcttctggagtggCgtggagcggcagcacaggac	9	8	14	10	2	3	0	1	0	2	0	3	3	3	3	0	5	3	2	0	5	1	2			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr5:160033839C>A	ENST00000327245.5	-	19	3939	c.3093G>T	c.(3091-3093)acG>acT	p.T1031T		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1031					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.T1031T(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCTGGAGTGGCGTGGAGCGGC	0.512													27	99					8.24728e-16	9.85092e-16	0.681144	1	0	A	160033839	C	A	160033839	2	1	144	1	0	0	0	0	0	0	0	1	1116	755	27	4		4	ATP10B	5	160033839	Silent	SNP	C	TCGA-G9-6384-01A-11D-1786-08	19281939	160033839	20881421	11	6901											
SCML4	256380	broad.mit.edu	37	chr6	108042009	108042009	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaagacatggggctagtgcGgggaccaccagcggtggcag	10	4	18	9	2	0	2	0	0	0	2	0	3	0	3	2	6	2	2	2	6	2	1			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr6:108042009G>A	ENST00000369022.2	-	5	906	c.697C>T	c.(697-699)Cgc>Tgc	p.R233C	SCML4_ENST00000369021.3_Missense_Mutation_p.R262C|SCML4_ENST00000479803.1_5'UTR|SCML4_ENST00000369025.2_Missense_Mutation_p.R49C|SCML4_ENST00000369020.3_Missense_Mutation_p.R291C			Q8N228	SCML4_HUMAN	sex comb on midleg-like 4 (Drosophila)	291					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.R262C(1)		endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		GGGCTAGTGCGGGGACCACCA	0.637													4	87					0	0	0.150653	0	0	A	108042009	G	A	108042009	3	1	144	1	0	0	0	0	1	0	0	0	13965	1116	39	1	385	1	SCML4	6	108042009	Missense_Mutation	SNP	G	TCGA-G9-6384-01A-11D-1786-08		108042009	63073058	12	6902											
PCLO	27445	broad.mit.edu	37	chr7	82763829	82763829	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttactgttggagcttgttCagctttgggctctaattttt	5	21	9	6	0	2	0	1	0	1	0	2	1	2	1	0	2	3	5	0	2	2	9			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr7:82763829C>G	ENST00000423517.2	-	3	3374	c.3037G>C	c.(3037-3039)Gaa>Caa	p.E1013Q	PCLO_ENST00000333891.8_Missense_Mutation_p.E1013Q	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	959					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.E1013Q(2)|p.E959Q(1)		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						GGAGCTTGTTCAGCTTTGGGC	0.433													12	33					0	0	0.38729	0	0	G	82763829	C	G	82763829	3	3	144	1	0	0	0	0	1	0	0	0	11630	835	29	4	12500	4	PCLO	7	82763829	Missense_Mutation	SNP	C	TCGA-G9-6384-01A-11D-1786-08		82763829	76374834	13	6903											
HTR5A	3361	broad.mit.edu	37	chr7	154862620	154862620	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacccagagatggatttacCtgtgaacctaacctcctttt	10	13	7	11	0	0	3	0	2	0	1	1	5	1	4	5	1	3	0	5	1	3	5			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr7:154862620C>T	ENST00000287907.2	+	1	587	c.11C>T	c.(10-12)cCt>cTt	p.P4L	AC093726.4_ENST00000395731.2_Intron|AC093726.4_ENST00000543018.1_Intron|AC093726.4_ENST00000493904.1_Intron	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	4						integral to plasma membrane	serotonin receptor activity	p.P4L(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		ATGGATTTACCTGTGAACCTA	0.612													27	133					0	0	0.706142	0	0	T	154862620	C	T	154862620	3	4	144	1	0	0	0	0	1	0	0	0	7494	681	24	2	13	2	HTR5A	7	154862620	Missense_Mutation	SNP	C	TCGA-G9-6384-01A-11D-1786-08	72098791	154862620	4276043	14	6904											
GSDMD	79792	broad.mit.edu	37	chr8	144643541	144643541	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcccgtctggctgccagaCgtccttctcttcccggataa	5	11	9	16	3	2	1	0	0	2	1	6	2	5	2	4	2	1	2	4	2	1	3			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr8:144643541C>T	ENST00000526406.1	+	9	1567	c.682_splice	c.e9-1	p.D228_splice	GSDMD_ENST00000533063.1_Splice_Site_p.D276_splice|GSDMD_ENST00000262580.4_Splice_Site_p.D228_splice	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	228								p.D228D(1)		breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						GGCTGCCAGACGTCCTTCTCT	0.637													3	14					0	0	0.150653	0	0	T	144643541	C	T	144643541	5	4	144	1	0	0	0	0	0	0	1	0	6860	550	19	1	702	1	GSDMD	8	144643541	Splice_Site	SNP	C	TCGA-G9-6384-01A-11D-1786-08		144643541	1720481	15	6905											
PCSK5	5125	broad.mit.edu	37	chr9	78790077	78790078	+	Frame_Shift_Ins	INS	-	-	GG																															ccagtgggacacaggctaaaINSaagaggcagctcatgcatca																										TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr9:78790077_78790078insGG	ENST00000376767.3	+	14	2444_2445	c.1932_1933insGG	c.(1930-1935)aaagagfs	p.KE644fs	PCSK5_ENST00000545128.1_Intron|PCSK5_ENST00000376752.4_Intron			Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	0	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CACAGGCTAAAAAGAGGCAGCT	0.485													10	51	---	---	---	---						GG	78790078	-	GG	78790077	7	5	144	1	0	1	1	0	0	0	0	0	11650	29	1	0		0	PCSK5	9	78790077	Frame_Shift_Ins	INS	-	TCGA-G9-6384-01A-11D-1786-08		78790077	62423354	16	6906	38	2									
PCSK5	5125	broad.mit.edu	37	chr9	78790082	78790082	+	Missense_Mutation	SNP	G	G	T																															tgggacacaggctaaaaagaGgcagctcatgcatcatccca																										TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr9:78790082G>T	ENST00000376767.3	+	14	2449	c.1937G>T	c.(1936-1938)aGg>aTg	p.R646M	PCSK5_ENST00000376752.4_Intron|PCSK5_ENST00000545128.1_Intron			Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	0	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GCTAAAAAGAGGCAGCTCATG	0.483													7	46					7.48243e-07	8.46696e-07	0.335167	1	0	T	78790082	G	T	78790082	3	4	144	1	0	0	0	0	1	0	0	0	11650	1015	35	4		4	PCSK5	9	78790082	Missense_Mutation	SNP	G	TCGA-G9-6384-01A-11D-1786-08	5	78790082	62423349	17	6907	38	2									
NRAP	4892	broad.mit.edu	37	chr10	115372082	115372082	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggcagtggatgtttgtagtCctgattgctggccagggtct	5	13	16	7	0	1	1	0	1	1	0	2	2	2	2	2	4	1	4	2	4	1	3			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr10:115372082C>A	ENST00000369358.4	-	30	3677	c.3433G>T	c.(3433-3435)Gac>Tac	p.D1145Y	NRAP_ENST00000360478.3_Missense_Mutation_p.D1102Y|NRAP_ENST00000369360.3_Missense_Mutation_p.D1110Y|NRAP_ENST00000359988.3_Missense_Mutation_p.D1137Y			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	1137						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	p.D1137Y(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TGTTTGTAGTCCTGATTGCTG	0.542													13	81					0.000151284	0.000162631	0.435327	1	0	A	115372082	C	A	115372082	3	1	144	1	0	0	0	0	1	0	0	0	10686	855	30	4	1835	4	NRAP	10	115372082	Missense_Mutation	SNP	C	TCGA-G9-6384-01A-11D-1786-08		115372082	20162665	18	6908											
KNDC1	85442	broad.mit.edu	37	chr10	135012126	135012126	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggagtccgaggagaggggcgGccagagggagggagaaggtg	10	2	24	5	2	0	3	0	0	0	3	1	8	1	5	2	8	0	0	2	8	1	0			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr10:135012126G>T	ENST00000304613.3	+	14	2135	c.2114G>T	c.(2113-2115)gGc>gTc	p.G705V	KNDC1_ENST00000368572.2_Missense_Mutation_p.G705V|KNDC1_ENST00000368571.2_Missense_Mutation_p.G640V			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	705					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			p.G705V(2)		NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GAGAGGGGCGGCCAGAGGGAG	0.721													3	20					1.23904e-05	1.36612e-05	0.184627	1	0	T	135012126	G	T	135012126	3	4	144	1	0	0	0	0	1	0	0	0	8469	1203	42	4	2168	4	KNDC1	10	135012126	Missense_Mutation	SNP	G	TCGA-G9-6384-01A-11D-1786-08	19640044	135012126	522621	19	6909											
ST5	6764	broad.mit.edu	37	chr11	8729383	8729383	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagtacacctctggcaaccGgggccctttcccacttggct	7	9	9	16	1	1	0	0	0	1	0	2	0	2	0	4	4	2	3	4	4	2	3			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr11:8729383G>C	ENST00000534127.1	-	15	2756	c.2371C>G	c.(2371-2373)Cgg>Ggg	p.R791G	RPL27A_ENST00000531102.1_Intron|ST5_ENST00000534278.1_Intron|ST5_ENST00000526099.1_Missense_Mutation_p.R304G|ST5_ENST00000313726.6_Missense_Mutation_p.R791G|ST5_ENST00000530438.1_Missense_Mutation_p.R371G|ST5_ENST00000526757.1_Missense_Mutation_p.R371G|ST5_ENST00000357665.1_Missense_Mutation_p.R791G|ST5_ENST00000530991.1_Missense_Mutation_p.R263G	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	791	DENN.				positive regulation of ERK1 and ERK2 cascade		protein binding	p.R791R(1)|p.R791G(1)		NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		TCTGGCAACCGGGGCCCTTTC	0.577													3	20					0	0	0.115264	0	0	C	8729383	G	C	8729383	3	2	144	1	0	0	0	0	1	0	0	0	15276	1115	39	4	1078	4	ST5	11	8729383	Missense_Mutation	SNP	G	TCGA-G9-6384-01A-11D-1786-08		8729383	126277133	20	6910											
FAM181B	220382	broad.mit.edu	37	chr11	82443763	82443763	+	Frame_Shift_Del	DEL	G	G	-																															gccgccgcggggggcagtcaGggggctctttttggtcgggg																										TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	19e9336f-2e5d-497a-a5ed-4490e8d27f2b	g.chr11:82443763delG	ENST00000329203.3	-	1	1143	c.1009delC	c.(1009-1011)tgfs	p.L337fs		NM_175885.3	NP_787081.2	A6NEQ2	F181B_HUMAN	family with sequence similarity 181, member B	337	Pro-rich.									large_intestine(1)|lung(2)|prostate(1)	4						GGGGCAGTCAGGGGGCTCTTT	0.711													2	4	---	---	---	---						-	82443763	G	-	82443763	7	5	144	1	0	1	0	1	0	0	0	0	5540	991	35	0	275	0	FAM181B	11	82443763	Frame_Shift_Del	DEL	G	TCGA-G9-6384-01A-11D-1786-08	73714380	82443763	52562753	21	6911											
CLK3	1198	broad.mit.edu	37	chr15	74917313	74917313	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggaggctgcccggctagaaAtcaacgtgctcaaaaaaatc	14	6	11	10	2	2	1	2	0	0	1	3	2	2	2	1	3	3	3	1	3	6	1			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr15:74917313A>G	ENST00000395066.3	+	6	1509	c.1048A>G	c.(1048-1050)Atc>Gtc	p.I350V	CLK3_ENST00000352989.5_Missense_Mutation_p.I179V|CLK3_ENST00000348245.3_3'UTR|CLK3_ENST00000345005.4_Missense_Mutation_p.I202V	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	350	Protein kinase.					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.I202V(2)|p.I350V(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						CCGGCTAGAAATCAACGTGCT	0.542													7	42					0	0	0.248553	0	0	G	74917313	A	G	74917313	3	3	144	1	0	0	0	0	1	0	0	0	3561	101	4	3	1070	3	CLK3	15	74917313	Missense_Mutation	SNP	A	TCGA-G9-6384-01A-11D-1786-08		74917313	27614079	22	6912											
RASGRF1	5923	broad.mit.edu	37	chr15	79382656	79382656	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccagcaggtaaagccccgagGgccgcgagctcgagtcgctc	8	4	14	15	5	0	0	0	0	0	0	3	3	0	0	4	2	3	4	4	2	2	1			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr15:79382656G>A	ENST00000419573.3	-	1	459	c.185C>T	c.(184-186)cCc>cTc	p.P62L	RASGRF1_ENST00000558480.2_Missense_Mutation_p.P62L	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	62	PH 1.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	p.P62L(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AAGCCCCGAGGGCCGCGAGCT	0.642													16	47					0	0	0.479597	0	0	A	79382656	G	A	79382656	3	1	144	1	0	0	0	0	1	0	0	0	13124	1232	43	2	3748	2	RASGRF1	15	79382656	Missense_Mutation	SNP	G	TCGA-G9-6384-01A-11D-1786-08	4465343	79382656	23148736	23	6913											
KIAA0556	23247	broad.mit.edu	37	chr16	27585275	27585275	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctgctcacgagagaaaaagGaggtaaatgtgtccctggcg	12	7	13	9	2	1	1	1	0	0	1	2	4	2	2	2	3	1	2	2	3	4	1			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr16:27585275G>T	ENST00000261588.4	+	2	80	c.61G>T	c.(61-63)Gag>Tag	p.E21*		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	21								p.E21*(2)		breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						AGAGAAAAAGGAGGTAAATGT	0.488													11	29					6.81908e-15	7.92487e-15	0.457914	1	0	T	27585275	G	T	27585275	4	4	144	1	0	0	0	0	0	1	0	0	8225	1175	41	4	67	4	KIAA0556	16	27585275	Nonsense_Mutation	SNP	G	TCGA-G9-6384-01A-11D-1786-08		27585275	62769478	24	6914											
ZNF689	115509	broad.mit.edu	37	chr16	30620889	30620889	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtactcctgcggatctagAgcagccggttcccagtcatc	7	9	12	13	2	2	1	1	0	1	1	5	2	4	2	3	3	4	3	3	3	2	3			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr16:30620889A>C	ENST00000287461.3	-	2	613	c.276T>G	c.(274-276)gcT>gcG	p.A92A	ZNF689_ENST00000566673.1_5'UTR	NM_138447.1	NP_612456.1	Q96CS4	ZN689_HUMAN	zinc finger protein 689	92	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A92A(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	14			Colorectal(24;0.198)			GCGGATCTAGAGCAGCCGGTT	0.547													20	64					0	0	0.575678	0	0	C	30620889	A	C	30620889	2	2	144	1	0	0	0	0	0	0	0	1	18150	291	11	5		5	ZNF689	16	30620889	Silent	SNP	A	TCGA-G9-6384-01A-11D-1786-08	3035614	30620889	59733864	25	6915											
THEG	51298	broad.mit.edu	37	chr19	375680	375680	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctgatttcaggaatgtcCtcttccaagtccttgtccag	8	13	7	13	0	2	1	1	1	1	0	6	2	6	2	5	1	0	0	5	1	2	3			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr19:375680C>T	ENST00000342640.4	-	1	333	c.291G>A	c.(289-291)gaG>gaA	p.E97E	THEG_ENST00000346878.2_Silent_p.E97E	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	97					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding	p.E97E(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGAATGTCCTCTTCCAAGT	0.657													36	169					0	0	0.812448	0	0	T	375680	C	T	375680	2	4	144	1	0	0	0	0	0	0	0	1	15917	680	24	2		2	THEG	19	375680	Silent	SNP	C	TCGA-G9-6384-01A-11D-1786-08		375680	58753303	26	6916											
ZNF257	113835	broad.mit.edu	37	chr19	22271354	22271354	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgtggcaaagcctttaacCggtcttcacacattactcaa	12	11	7	11	1	3	0	2	0	1	0	3	0	3	0	2	2	3	1	2	2	4	4	rs17853619		TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr19:22271354C>T	ENST00000594947.1	+	4	946	c.802C>T	c.(802-804)Cgg>Tgg	p.R268W		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	268					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R268W(1)		haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				AGCCTTTAACCGGTCTTCACA	0.388													3	33					0	0	0.115264	0	0	T	22271354	C	T	22271354	3	4	144	1	0	0	0	0	1	0	0	0	17858	643	23	1	816	1	ZNF257	19	22271354	Missense_Mutation	SNP	C	TCGA-G9-6384-01A-11D-1786-08	21895674	22271354	36857629	27	6917											
BAGE2	85319	broad.mit.edu	37	chr21	11085940	11085942	+	RNA	DEL	CAC	CAC	-																															accaccaccaccaccaccatCaccaccaccaccaccatcaa																										TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr21:11085940_11085942delCAC	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)		ccaccaccatcaccaccaccacc	0.532													2	4	---	---	---	---						-	11085942	CAC	-	11085940	6	5	144	0	1	1	0	1	0	0	0	0	1290	841	29	0		0	BAGE2	21	11085940	RNA	DEL	CAC	TCGA-G9-6384-01A-11D-1786-08		11085940	37043955	28	6918											
USP16	0	broad.mit.edu	37	chr21	30411465	30411465	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgaaagaactcttttctcAggtctgtaaaaagtgagtat	14	12	8	7	1	3	2	1	1	3	1	4	3	3	2	1	1	1	2	1	1	6	4			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr21:30411465A>G	ENST00000334352.4	+	9	1082	c.851A>G	c.(850-852)cAg>cGg	p.Q284R	USP16_ENST00000399975.3_Missense_Mutation_p.Q283R|USP16_ENST00000399976.2_Missense_Mutation_p.Q284R|USP16_ENST00000535828.1_Intron	NM_001032410.1	NP_001027582.1	Q9Y5T5	UBP16_HUMAN	ubiquitin specific peptidase 16	284					cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.Q284R(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						CTCTTTTCTCAGGTCTGTAAA	0.378													5	56					0	0	0.184627	0	0	G	30411465	A	G	30411465	3	3	144	1	0	0	0	0	1	0	0	0	17107	188	7	3	877	3	USP16	21	30411465	Missense_Mutation	SNP	A	TCGA-G9-6384-01A-11D-1786-08	19325525	30411465	17718430	29	6919											
CCT8L2	150160	broad.mit.edu	37	chr22	17073169	17073169	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgggtttgtcctgcttccCggaggagccatgctgctggg	3	11	15	12	1	0	0	0	0	0	0	2	2	2	2	4	4	4	4	4	4	0	2			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr22:17073169C>A	ENST00000359963.3	-	1	531	c.272G>T	c.(271-273)cGg>cTg	p.R91L		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	91					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	p.R91L(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TCCTGCTTCCCGGAGGAGCCA	0.602													3	47					0.115264	0.118008	0.115264	1	0	A	17073169	C	A	17073169	3	1	144	1	0	0	0	0	1	0	0	0	2983	652	23	4	1405	4	CCT8L2	22	17073169	Missense_Mutation	SNP	C	TCGA-G9-6384-01A-11D-1786-08		17073169	34231397	30	6920											
MN1	4330	broad.mit.edu	37	chr22	28194936	28194936	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgttgCtgctgctgctgctgctgctg	0	15	14	12	0	0	0	0	0	0	0	0	0	0	0	0	0	12	13	0	0	0	1	rs45597040		TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chr22:28194936C>T	ENST00000302326.4	-	1	2550	c.1596G>A	c.(1594-1596)caG>caA	p.Q532Q		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	532	Poly-Gln.						binding	p.Q532Q(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						gctgctgttgctgctgctgct	0.652			T	ETV6	"AML, meningioma"								3	12					0	0	0.115264	0	0	T	28194936	C	T	28194936	2	4	144	1	0	0	0	0	0	0	0	1	9722	796	28	2		2	MN1	22	28194936	Silent	SNP	C	TCGA-G9-6384-01A-11D-1786-08	11121767	28194936	23109630	31	6921											
ARHGAP36	158763	broad.mit.edu	37	chrX	130220378	130220378	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcacttgattttatcagaCgcaggaacttgaggaagatc	14	10	10	7	1	1	4	1	2	0	2	2	6	1	6	0	2	2	2	0	2	4	4			TCGA-G9-6384-01A-11D-1786-08	TCGA-G9-6384-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	667ba573-9cd4-4916-8b54-d529c24cd63e	4b005f8d-1af2-4aff-87b6-de830251409b	g.chrX:130220378C>T	ENST00000276211.5	+	10	1702	c.1357C>T	c.(1357-1359)Cgc>Tgc	p.R453C	ARHGAP36_ENST00000370922.1_Missense_Mutation_p.R441C|ARHGAP36_ENST00000370921.1_Missense_Mutation_p.R317C	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	453					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.R453C(2)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						TTTTATCAGACGCAGGAACTT	0.473													22	30					0	0	0.624587	0	0	T	130220378	C	T	130220378	3	4	144	1	0	0	0	0	1	0	0	0	880	536	19	1	1391	1	ARHGAP36	23	130220378	Missense_Mutation	SNP	C	TCGA-G9-6384-01A-11D-1786-08		130220378	25050182	32	6922											
KIF1B	23095	broad.mit.edu	37	chr1	10363477	10363477	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggctgtcaaagagatttgctAtgaggttgctctcaatgact	10	13	11	7	0	2	3	2	2	1	1	3	4	2	3	0	2	2	4	0	2	3	3			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr1:10363477A>T	ENST00000377093.4	+	21	2387	c.2234A>T	c.(2233-2235)tAt>tTt	p.Y745F	KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377086.1_Intron|KIF1B_ENST00000377083.1_Missense_Mutation_p.Y745F	NM_183416.3	NP_904325.2	O60333	KIF1B_HUMAN	kinesin family member 1B	0					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	p.Y745F(1)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GAGATTTGCTATGAGGTTGCT	0.438													6	71					0	0	0.217242	0	0	T	10363477	A	T	10363477	3	4	145	1	0	0	0	0	1	0	0	0	8326	449	16	5	2312	5	KIF1B	1	10363477	Missense_Mutation	SNP	A	TCGA-G9-6385-01A-11D-1786-08		10363477	238887144	1	6923											
FLG2	388698	broad.mit.edu	37	chr1	152326999	152326999	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttgacccatgttgaccatagCcagatgattgacttgagcca	11	11	9	10	0	0	6	0	5	0	1	0	6	0	6	4	0	2	1	4	0	1	5			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr1:152326999C>T	ENST00000388718.5	-	3	3335	c.3263G>A	c.(3262-3264)gGc>gAc	p.G1088D	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1088	Ser-rich.						calcium ion binding|structural molecule activity	p.G1088D(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGACCATAGCCAGATGATTG	0.498													11	381					0	0	0.38729	0	0	T	152326999	C	T	152326999	3	4	145	1	0	0	0	0	1	0	0	0	5956	739	26	2	3916	2	FLG2	1	152326999	Missense_Mutation	SNP	C	TCGA-G9-6385-01A-11D-1786-08	141963522	152326999	96923622	2	6924											
GPR37L1	9283	broad.mit.edu	37	chr1	202092707	202092707	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgacgtttcttgtcgtgccGtgcccttcatggaggtgagt	4	14	14	9	3	2	2	1	2	1	0	3	3	2	3	2	2	2	1	2	2	0	3			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr1:202092707G>A	ENST00000367282.4	+	1	722	c.616G>A	c.(616-618)Gtg>Atg	p.V206M		NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN	G protein-coupled receptor 37 like 1	206						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	p.V206M(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						TTGTCGTGCCGTGCCCTTCAT	0.522													6	150					0	0	0.217242	0	0	A	202092707	G	A	202092707	3	1	145	1	0	0	0	0	1	0	0	0	6732	1145	40	1	618	1	GPR37L1	1	202092707	Missense_Mutation	SNP	G	TCGA-G9-6385-01A-11D-1786-08	49765708	202092707	47157914	3	6925											
OBSCN	84033	broad.mit.edu	37	chr1	228481211	228481211	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacacagcctgaggcaggaCggggccaggtgtgagctgca	10	4	17	10	1	0	3	0	2	0	1	0	4	0	4	2	5	3	3	2	5	0	0			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr1:228481211C>T	ENST00000570156.2	+	46	12386	c.12312C>T	c.(12310-12312)gaC>gaT	p.D4104D	OBSCN_ENST00000284548.11_Silent_p.D3675D|OBSCN_ENST00000422127.1_Silent_p.D3675D|OBSCN_ENST00000366707.4_Silent_p.D794D|OBSCN_ENST00000359599.6_Silent_p.D2522D|OBSCN_ENST00000366709.4_Silent_p.D794D	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3146	Ig-like 42.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.D3729D(1)|p.D3958D(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGAGGCAGGACGGGGCCAGGT	0.652													4	81					0	0	0.184627	0	0	T	228481211	C	T	228481211	2	4	145	1	0	0	0	0	0	0	0	1	10860	535	19	1		1	OBSCN	1	228481211	Silent	SNP	C	TCGA-G9-6385-01A-11D-1786-08	26388504	228481211	20769410	4	6926											
OR2G6	391211	broad.mit.edu	37	chr1	248685655	248685655	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagctgcgggccgccaaaaGgcctttgggacctgttcgtc	6	9	13	13	3	1	0	1	0	0	0	3	1	1	1	4	3	2	2	4	3	2	2			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr1:248685655G>C	ENST00000343414.4	+	1	740	c.708G>C	c.(706-708)aaG>aaC	p.K236N		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K236N(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCCGCCAAAAGGCCTTTGGGA	0.458													17	65					0	0	0.520397	0	0	C	248685655	G	C	248685655	3	2	145	1	0	0	0	0	1	0	0	0	11048	991	35	4	710	4	OR2G6	1	248685655	Missense_Mutation	SNP	G	TCGA-G9-6385-01A-11D-1786-08	20204444	248685655	564966	5	6927											
PRICKLE2	166336	broad.mit.edu	37	chr3	64084858	64084858	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcatcgcttgtgacgtatcGcaggcgcgctggctggggga	5	9	16	11	5	1	1	1	1	0	0	3	2	1	2	0	4	0	5	0	4	1	2			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr3:64084858G>A	ENST00000295902.6	-	8	2989	c.2404C>T	c.(2404-2406)Cga>Tga	p.R802*	RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Nonsense_Mutation_p.R858*	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	802						cytoplasm|nuclear membrane	zinc ion binding	p.R802*(1)		breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		GTGACGTATCGCAGGCGCGCT	0.552													4	91					0	0	0.184627	0	0	A	64084858	G	A	64084858	4	1	145	1	0	0	0	0	0	1	0	0	12539	1095	38	1	134	1	PRICKLE2	3	64084858	Nonsense_Mutation	SNP	G	TCGA-G9-6385-01A-11D-1786-08		64084858	133937572	6	6928											
NR1I2	8856	broad.mit.edu	37	chr3	119531666	119531666	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctctgcagctgcggggggAggatggcagtgtctggaact	6	9	17	9	1	2	0	0	0	2	0	3	3	2	3	0	6	4	3	0	6	1	0			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr3:119531666A>G	ENST00000393716.2	+	5	2492	c.653A>G	c.(652-654)gAg>gGg	p.E218G	NR1I2_ENST00000337940.4_Missense_Mutation_p.E257G|NR1I2_ENST00000466380.1_Missense_Mutation_p.E181G	NM_003889.3	NP_003880.3	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	218	Ligand-binding.				drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	p.E257G(2)		breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)	CTGCGGGGGGAGGATGGCAGT	0.582													3	88					0	0	0.150653	0	0	G	119531666	A	G	119531666	3	3	145	1	0	0	0	0	1	0	0	0	10668	304	11	3	788	3	NR1I2	3	119531666	Missense_Mutation	SNP	A	TCGA-G9-6385-01A-11D-1786-08	55446808	119531666	78490764	7	6929											
PCDHGB7	0	broad.mit.edu	37	chr5	140798766	140798766	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacattactgacgtcaatgAcaacgcgccggttttcggac	10	9	10	12	5	1	2	1	2	0	0	2	3	1	3	1	2	2	2	1	2	3	3			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr5:140798766A>G	ENST00000398594.2	+	1	1340	c.1340A>G	c.(1339-1341)gAc>gGc	p.D447G	PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018927.3	NP_061750.1												p.D447G(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACGTCAATGACAACGCGCCG	0.572													7	54					0	0	0.307466	0	0	G	140798766	A	G	140798766	3	3	145	1	0	0	0	0	1	0	0	0	11615	275	10	3	1342	3	PCDHGB7	5	140798766	Missense_Mutation	SNP	A	TCGA-G9-6385-01A-11D-1786-08		140798766	40116494	8	6930											
FAT2	2196	broad.mit.edu	37	chr5	150922324	150922324	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctattgtcattgacgtcTcccacttggatgttgacaga	8	13	10	10	1	2	3	1	2	1	1	3	4	2	4	2	2	0	1	2	2	1	5	rs35581702		TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr5:150922324T>C	ENST00000261800.5	-	9	8376	c.8364A>G	c.(8362-8364)ggA>ggG	p.G2788G		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2788	Cadherin 24.				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)			CATTGACGTCTCCCACTTGGA	0.478													3	181					0	0	0.115264	0	0	C	150922324	T	C	150922324	2	2	145	1	0	0	0	0	0	0	0	1	5723	1538	54	3		3	FAT2	5	150922324	Silent	SNP	T	TCGA-G9-6385-01A-11D-1786-08	10123558	150922324	29992936	9	6931											
HIST1H2BK	85236	broad.mit.edu	37	chr6	27114573	27114573	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcggacttcgctggttccGgcatgttgaaggcgaactac	8	9	14	10	4	0	1	0	1	0	0	2	4	1	2	1	4	3	4	1	4	3	4			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr6:27114573G>A	ENST00000396891.4	-	1	46	c.5C>T	c.(4-6)cCg>cTg	p.P2L	HIST1H2BK_ENST00000356950.1_Missense_Mutation_p.P2L	NM_080593.2	NP_542160.1	O60814	H2B1K_HUMAN	histone cluster 1, H2bk	2					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding	p.P2L(2)		breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						CGCTGGTTCCGGCATGTTGAA	0.567													3	76					0	0	0.115264	0	0	A	27114573	G	A	27114573	3	1	145	1	0	0	0	0	1	0	0	0	7191	1116	39	1	379	1	HIST1H2BK	6	27114573	Missense_Mutation	SNP	G	TCGA-G9-6385-01A-11D-1786-08		27114573	144000494	10	6932											
NOTCH4	4855	broad.mit.edu	37	chr6	32163814	32163814	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacgttggtgagcgacgtcCgccggcgctagcccagcctg	5	8	14	14	6	0	1	0	1	0	0	1	2	1	1	4	2	4	2	4	2	2	3			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr6:32163814C>T	ENST00000443903.2	-	3	541	c.541G>A	c.(541-543)Gga>Aga	p.G181R	NOTCH4_ENST00000375023.3_Silent_p.A1804A			Q99466	NOTC4_HUMAN	notch 4	1180	EGF-like 4.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	p.A1804A(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GAGCGACGTCCGCCGGCGCTA	0.701													3	11					0	0	0.115264	0	0	T	32163814	C	T	32163814	3	4	145	1	0	0	0	0	1	0	0	0	10598	639	23	1	603	1	NOTCH4	6	32163814	Missense_Mutation	SNP	C	TCGA-G9-6385-01A-11D-1786-08	5049241	32163814	138951253	11	6933											
TTBK1	84630	broad.mit.edu	37	chr6	43251485	43251485	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccctgtctggggcccccCgggaaaccccctcagagatg	6	6	12	17	1	2	1	1	0	1	1	2	3	2	2	6	3	2	0	6	3	1	0			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr6:43251485C>G	ENST00000259750.4	+	14	3090	c.3007C>G	c.(3007-3009)Cgg>Ggg	p.R1003G		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	1003						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.R1003G(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			TGGGGCCCCCCGGGAAACCCC	0.697													3	39					0	0	0.150653	0	0	G	43251485	C	G	43251485	3	3	145	1	0	0	0	0	1	0	0	0	16738	643	23	4	3057	4	TTBK1	6	43251485	Missense_Mutation	SNP	C	TCGA-G9-6385-01A-11D-1786-08	11087671	43251485	127863582	12	6934											
ZNF292	23036	broad.mit.edu	37	chr6	87943091	87943091	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catcttgttggatatgagaaTtaaacatctaatcaaaacaa	18	12	5	6	0	3	1	1	1	2	1	3	3	3	2	0	1	2	1	0	1	8	5			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr6:87943091T>A	ENST00000369577.3	+	5	630	c.587T>A	c.(586-588)aTt>aAt	p.I196N	ZNF292_ENST00000339907.4_Missense_Mutation_p.I191N	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I196N(1)|p.I51N(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GATATGAGAATTAAACATCTA	0.313													3	69					0	0	0.115264	0	0	A	87943091	T	A	87943091	3	1	145	1	0	0	0	0	1	0	0	0	17883	1493	52	5	605	5	ZNF292	6	87943091	Missense_Mutation	SNP	T	TCGA-G9-6385-01A-11D-1786-08	44691606	87943091	83171976	13	6935											
SMU1	55234	broad.mit.edu	37	chr9	33056918	33056918	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgacacccttactgtgtgcCctctcaaatctccttaaaca	10	12	5	14	0	2	1	1	1	2	0	4	1	2	1	3	0	3	0	3	0	4	2			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr9:33056918C>T	ENST00000397149.3	-	8	962	c.912G>A	c.(910-912)agG>agA	p.R304R	SMU1_ENST00000536631.1_Silent_p.R143R	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)	304						cytoplasm|nucleus		p.R304R(1)		endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		TACTGTGTGCCCTCTCAAATC	0.353													12	174					0	0	0.457914	0	0	T	33056918	C	T	33056918	2	4	145	1	0	0	0	0	0	0	0	1	14871	622	22	2		2	SMU1	9	33056918	Silent	SNP	C	TCGA-G9-6385-01A-11D-1786-08		33056918	108156513	14	6936											
APBB1	322	broad.mit.edu	37	chr11	6432291	6432291	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcctggctggcctcctccGccaaggtcaaggtcacattg	6	9	11	15	1	2	0	2	0	0	0	5	0	5	0	5	4	0	2	5	4	2	1	rs138898127	byFrequency	TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr11:6432291G>A	ENST00000389906.2	-	2	386	c.287C>T	c.(286-288)gCg>gTg	p.A96V	APBB1_ENST00000299402.6_Missense_Mutation_p.A96V|APBB1_ENST00000533407.1_Intron|APBB1_ENST00000311051.3_Missense_Mutation_p.A96V	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	96					apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	p.A96V(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		GGCCTCCTCCGCCAAGGTCAA	0.632													10	308					0	0	0.38729	0	0	A	6432291	G	A	6432291	3	1	145	1	0	0	0	0	1	0	0	0	755	1087	38	1	1897	1	APBB1	11	6432291	Missense_Mutation	SNP	G	TCGA-G9-6385-01A-11D-1786-08		6432291	128574225	15	6937											
ATP5B	506	broad.mit.edu	37	chr12	57032140	57032140	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttcagccagcttatcagcTtttgccacagcttcttcaat	8	15	5	13	0	5	0	3	0	2	0	5	0	5	0	2	0	5	3	2	0	2	6			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr12:57032140T>C	ENST00000262030.3	-	10	1607	c.1557A>G	c.(1555-1557)aaA>aaG	p.K519K	ATP5B_ENST00000552919.1_Silent_p.K508K	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide	519					angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCTTATCAGCTTTTGCCACAG	0.448													3	215					0	0	0.150653	0	0	C	57032140	T	C	57032140	2	2	145	1	0	0	0	0	0	0	0	1	1147	1606	56	3		3	ATP5B	12	57032140	Silent	SNP	T	TCGA-G9-6385-01A-11D-1786-08		57032140	76819755	16	6938											
CTDSP2	10106	broad.mit.edu	37	chr12	58223322	58223322	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggcgcgaaaacagcagaaaAgggccttgaagatgttacgt	14	6	14	7	3	0	3	0	1	0	2	0	4	0	3	1	2	3	2	1	2	6	2			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr12:58223322A>G	ENST00000398073.2	-	2	425	c.122T>C	c.(121-123)cTt>cCt	p.L41P	CTDSP2_ENST00000548823.1_Intron|CTDSP2_ENST00000547701.1_5'UTR	NM_005730.3	NP_005721.3	O14595	CTDS2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2	41					protein dephosphorylation	nucleus|soluble fraction	CTD phosphatase activity|metal ion binding	p.L41P(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7	all_neural(12;0.00559)|Glioma(12;0.0143)|Melanoma(17;0.122)					ACAGCAGAAAAGGGCCTTGAA	0.532													3	123					0	0	0.115264	0	0	G	58223322	A	G	58223322	3	3	145	1	0	0	0	0	1	0	0	0	4028	72	3	3	721	3	CTDSP2	12	58223322	Missense_Mutation	SNP	A	TCGA-G9-6385-01A-11D-1786-08	1191182	58223322	75628573	17	6939											
LGR5	8549	broad.mit.edu	37	chr12	71977709	71977709	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggggttggttgccatgtcaTtggttttttgtccatttttg	3	21	12	5	0	1	0	1	0	0	0	2	0	2	0	2	4	1	3	2	4	0	8			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr12:71977709T>C	ENST00000266674.5	+	18	2230	c.1919T>C	c.(1918-1920)aTt>aCt	p.I640T	LGR5_ENST00000536515.1_Missense_Mutation_p.I568T|LGR5_ENST00000540815.2_Missense_Mutation_p.I616T			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	640						integral to plasma membrane	protein-hormone receptor activity	p.I640T(1)	NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TGCCATGTCATTGGTTTTTTG	0.493													21	57					0	0	0.592651	0	0	C	71977709	T	C	71977709	3	2	145	1	0	0	0	0	1	0	0	0	8797	1493	52	3	1989	3	LGR5	12	71977709	Missense_Mutation	SNP	T	TCGA-G9-6385-01A-11D-1786-08	13754387	71977709	61874186	18	6940											
KIAA0586	9786	broad.mit.edu	37	chr14	58896079	58896079	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atctattcctttgttttgttAggttcatcagacttaacttc	8	20	5	8	0	3	1	2	0	1	1	5	1	4	1	1	1	1	3	1	1	3	9			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr14:58896079A>G	ENST00000423743.3	+	2	202		c.e2-1		KIAA0586_ENST00000354386.6_Splice_Site|KIAA0586_ENST00000261244.5_Splice_Site|KIAA0586_ENST00000556134.1_Splice_Site	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN	KIAA0586									p.?(2)		endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TTGTTTTGTTAGGTTCATCAG	0.323													3	106					0	0	0.115264	0	0	G	58896079	A	G	58896079	5	3	145	1	0	0	0	0	0	0	1	0	8228	434	15	3	204	3	KIAA0586	14	58896079	Splice_Site	SNP	A	TCGA-G9-6385-01A-11D-1786-08		58896079	48453461	19	6941											
PHKB	5257	broad.mit.edu	37	chr16	47533728	47533728	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctttcccactaaaacatgCggtggtgaccagaaggccaa	12	8	9	12	1	1	2	0	1	1	1	2	2	2	2	3	3	2	0	3	3	4	2			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	90ab9245-589c-4c76-b018-77f386ce2b7e	g.chr16:47533728C>T	ENST00000455779.1	+	4	392	c.207C>T	c.(205-207)tgC>tgT	p.C69C	PHKB_ENST00000299167.8_Silent_p.C76C|PHKB_ENST00000566044.1_Silent_p.C69C|PHKB_ENST00000567402.1_3'UTR|PHKB_ENST00000323584.5_Silent_p.C76C			Q93100	KPBB_HUMAN	phosphorylase kinase, beta	76					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				CTAAAACATGCGGTGGTGACC	0.507													4	153					0	0	0.150653	0	0	T	47533728	C	T	47533728	2	4	145	1	0	0	0	0	0	0	0	1	11893	776	27	1		1	PHKB	16	47533728	Silent	SNP	C	TCGA-G9-6385-01A-11D-1786-08		47533728	42821025	20	6942											
NFE2L1	4779	broad.mit.edu	37	chr17	46128887	46128887	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccaagatgtgacaggccCagacaacggggtgcgagaaa	13	4	13	11	2	0	4	0	1	0	3	1	5	1	4	3	3	2	0	3	3	3	0			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr17:46128887C>A	ENST00000362042.3	+	2	1023	c.407C>A	c.(406-408)cCa>cAa	p.P136Q	NFE2L1_ENST00000585291.1_Missense_Mutation_p.P136Q|NFE2L1_ENST00000361665.3_Missense_Mutation_p.P136Q|NFE2L1_ENST00000357480.5_Missense_Mutation_p.P136Q	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	136	Asp/Glu-rich (acidic).				anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	p.P136Q(1)		cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTGACAGGCCCAGACAACGGG	0.592													4	88					0.150653	0.159023	0.150653	1	0	A	46128887	C	A	46128887	3	1	145	1	0	0	0	0	1	0	0	0	10414	594	21	4	409	4	NFE2L1	17	46128887	Missense_Mutation	SNP	C	TCGA-G9-6385-01A-11D-1786-08		46128887	35066323	21	6943											
ZNF562	54811	broad.mit.edu	37	chr19	9771402	9771402	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacaaggacttaccatgggAcatatcaaaggctgacatcc	15	7	8	11	0	1	1	1	1	0	0	2	3	2	3	2	3	2	1	2	3	5	2			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr19:9771402A>T	ENST00000448622.1	-	2	181	c.19T>A	c.(19-21)Tcc>Acc	p.S7T	ZNF562_ENST00000537617.1_5'UTR|ZNF562_ENST00000541032.1_5'UTR|ZNF562_ENST00000590155.1_Missense_Mutation_p.S7T|ZNF562_ENST00000293648.4_Missense_Mutation_p.S7T|ZNF562_ENST00000453792.2_Intron|ZNF562_ENST00000587392.1_Missense_Mutation_p.S7T|ZNF562_ENST00000453372.2_Missense_Mutation_p.S7T	NM_001130031.1|NM_001130032.1	NP_001123503.1|NP_001123504.1	Q6V9R5	ZN562_HUMAN	zinc finger protein 562	7					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S7T(2)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						TTACCATGGGACATATCAAAG	0.488													5	213					0	0	0.217242	0	0	T	9771402	A	T	9771402	3	4	145	1	0	0	0	0	1	0	0	0	18050	275	10	5	1281	5	ZNF562	19	9771402	Missense_Mutation	SNP	A	TCGA-G9-6385-01A-11D-1786-08		9771402	49357581	22	6944											
CCDC105	126402	broad.mit.edu	37	chr19	15131324	15131324	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcttcaaggagcggctcCaagccgtggacctcatgaac	9	8	11	13	2	3	1	2	1	1	0	4	3	4	3	3	3	4	2	3	3	3	1			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr19:15131324C>A	ENST00000292574.3	+	3	809	c.727C>A	c.(727-729)Caa>Aaa	p.Q243K		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	243					microtubule cytoskeleton organization	microtubule		p.Q243K(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						GGAGCGGCTCCAAGCCGTGGA	0.617													4	39					0.150653	0.159023	0.150653	1	0	A	15131324	C	A	15131324	3	1	145	1	0	0	0	0	1	0	0	0	2758	595	21	4	737	4	CCDC105	19	15131324	Missense_Mutation	SNP	C	TCGA-G9-6385-01A-11D-1786-08	5359922	15131324	43997659	23	6945											
ZNF766	90321	broad.mit.edu	37	chr19	52793389	52793389	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacttggattaacctttcaGttacctctgccagaactgga	11	12	7	11	0	2	1	1	0	1	1	2	3	2	3	3	2	5	1	3	2	4	4			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr19:52793389G>A	ENST00000439461.1	+	4	388	c.345G>A	c.(343-345)caG>caA	p.Q115Q	CTD-2525I3.5_ENST00000594865.1_RNA|ZNF766_ENST00000359102.4_Silent_p.Q130Q|ZNF766_ENST00000593612.1_Silent_p.Q130Q|ZNF766_ENST00000599581.1_3'UTR	NM_001010851.2	NP_001010851.1	Q5HY98	ZN766_HUMAN	zinc finger protein 766	115					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q115Q(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		TAACCTTTCAGTTACCTCTGC	0.398													4	67					0	0	0.150653	0	0	A	52793389	G	A	52793389	2	1	145	1	0	0	0	0	0	0	0	1	18190	1020	36	2		2	ZNF766	19	52793389	Silent	SNP	G	TCGA-G9-6385-01A-11D-1786-08	37662065	52793389	6335594	24	6946											
BAGE2	85319	broad.mit.edu	37	chr21	11058353	11058353	+	RNA	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtaaaggagagaaatctcttTataaaaccttgaaaaggaat	19	10	8	4	0	1	2	0	1	1	1	2	5	1	4	1	2	1	1	1	2	9	5	rs79433933	by1000genomes	TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr21:11058353T>C	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)		GAAATCTCTTTATAAAACCTT	0.343													4	99					0	0	0.150653	0	0	C	11058353	T	C	11058353	1	2	145	0	1	0	0	0	0	0	0	0	1290	1769	61	3		3	BAGE2	21	11058353	RNA	SNP	T	TCGA-G9-6385-01A-11D-1786-08		11058353	37071542	25	6947											
BAGE2	85319	broad.mit.edu	37	chr21	11085531	11085533	+	RNA	DEL	AAA	AAA	-																															ccaccaccaccaccaccactAaaaccacgaccaccaccacc																										TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr21:11085531_11085533delAAA	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)		caccaccactaaaaccacgacca	0.596													2	4	---	---	---	---						-	11085533	AAA	-	11085531	6	5	145	0	1	1	0	1	0	0	0	0	1290	377	13	0		0	BAGE2	21	11085531	RNA	DEL	AAA	TCGA-G9-6385-01A-11D-1786-08	27178	11085531	37044364	26	6948											
CCT8L2	150160	broad.mit.edu	37	chr22	17072553	17072553	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctcctcgtcgacctccccCaacaccactgccacattaat	9	9	4	19	2	1	0	0	0	1	0	5	1	2	0	6	0	2	0	6	0	2	1			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr22:17072553C>A	ENST00000359963.3	-	1	1147	c.888G>T	c.(886-888)ttG>ttT	p.L296F		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	296					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CGACCTCCCCCAACACCACTG	0.493													5	233					0.00116845	0.00138753	0.217242	1	0	A	17072553	C	A	17072553	3	1	145	1	0	0	0	0	1	0	0	0	2983	593	21	4	789	4	CCT8L2	22	17072553	Missense_Mutation	SNP	C	TCGA-G9-6385-01A-11D-1786-08		17072553	34232013	27	6949											
ASPHD2	57168	broad.mit.edu	37	chr22	26829759	26829759	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcgggactgcgacaccaccGctgtcatcactgtggcctgc	6	8	12	15	3	2	0	2	0	0	0	2	2	2	1	3	2	3	1	3	2	0	0			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr22:26829759G>A	ENST00000215906.5	+	2	616	c.178G>A	c.(178-180)Gct>Act	p.A60T		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	60					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity	p.A34T(1)		endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						CGACACCACCGCTGTCATCAC	0.647													4	91					0	0	0.184627	0	0	A	26829759	G	A	26829759	3	1	145	1	0	0	0	0	1	0	0	0	1054	1087	38	1	180	1	ASPHD2	22	26829759	Missense_Mutation	SNP	G	TCGA-G9-6385-01A-11D-1786-08	9757206	26829759	24474807	28	6950											
NUDT10	170685	broad.mit.edu	37	chrX	51076024	51076024	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccgagaggtgtacgaagaGgcgggagtcaaggggaagtt	11	6	19	5	3	1	2	1	0	0	2	2	6	2	4	1	5	1	2	1	5	4	2	rs143435240	byFrequency	TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chrX:51076024G>A	ENST00000376006.3	+	2	427	c.207G>A	c.(205-207)gaG>gaA	p.E69E	NUDT10_ENST00000356450.2_Silent_p.E69E	NM_153183.2	NP_694853.1	Q8NFP7	NUD10_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	69	Nudix hydrolase.					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	p.E69E(8)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					TGTACGAAGAGGCGGGAGTCA	0.657													3	33					0	0	0.115264	0	0	A	51076024	G	A	51076024	2	1	145	1	0	0	0	0	0	0	0	1	10774	991	35	2		2	NUDT10	23	51076024	Silent	SNP	G	TCGA-G9-6385-01A-11D-1786-08		51076024	104194536	29	6951											
COL16A1	1307	broad.mit.edu	37	chr1	32150183	32150183	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcctgacagtcctggccGccctgtggtgcccggcgttc	2	10	12	17	3	1	1	0	1	1	0	4	1	2	1	5	3	1	1	5	3	0	1			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr1:32150183G>A	ENST00000373672.3	-	31	2617	c.2101C>T	c.(2101-2103)Cgg>Tgg	p.R701W	COL16A1_ENST00000271069.6_Missense_Mutation_p.R700W|COL16A1_ENST00000373668.3_Missense_Mutation_p.R701W	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	701	Triple-helical region 6 (COL6) with 1 imperfection.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity	p.R701W(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		AGTCCTGGCCGCCCTGTGGTG	0.637													11	81					0	0	0.080935	0	0	A	32150183	G	A	32150183	3	1	146	1	0	0	0	0	1	0	0	0	3696	1086	38	1	2877	1	COL16A1	1	32150183	Missense_Mutation	SNP	G	TCGA-G9-6494-01A-11D-1786-08		32150183	217100438	1	6952											
KANK4	163782	broad.mit.edu	37	chr1	62739491	62739491	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttgacttcaatgcccttatCacacgactccctggtcaaga	10	11	7	13	1	3	2	3	1	0	1	4	3	4	2	2	1	1	1	2	1	3	3			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr1:62739491C>T	ENST00000371153.4	-	3	1663	c.1285G>A	c.(1285-1287)Gat>Aat	p.D429N	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	429								p.D429N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						ATGCCCTTATCACACGACTCC	0.547													6	224					0	0	0.021553	0	0	T	62739491	C	T	62739491	3	4	146	1	0	0	0	0	1	0	0	0	8023	826	29	2	1734	2	KANK4	1	62739491	Missense_Mutation	SNP	C	TCGA-G9-6494-01A-11D-1786-08	30589308	62739491	186511130	2	6953											
HFM1	164045	broad.mit.edu	37	chr1	91781959	91781959	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tataactaccaattcaagttCccttgcatctgtctcttcta	10	16	3	12	0	4	0	1	0	3	0	6	0	5	0	2	0	3	2	2	0	6	8			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr1:91781959C>A	ENST00000370425.3	-	26	2985	c.2887G>T	c.(2887-2889)Gaa>Taa	p.E963*	HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000294696.5_Nonsense_Mutation_p.E195*|HFM1_ENST00000370424.3_Nonsense_Mutation_p.E642*	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	963	SEC63.						ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.E963*(1)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		AATTCAAGTTCCCTTGCATCT	0.303													7	86					0.00307968	0.00332804	0.038147	1	0	A	91781959	C	A	91781959	4	1	146	1	0	0	0	0	0	1	0	0	7124	864	30	4	1476	4	HFM1	1	91781959	Nonsense_Mutation	SNP	C	TCGA-G9-6494-01A-11D-1786-08	29042468	91781959	157468662	3	6954											
RC3H1	149041	broad.mit.edu	37	chr1	173941766	173941767	+	Splice_Site	INS	-	-	TA																															caagtaggaggaggagcatcINStatacaaccaatgataatgt																										TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr1:173941766_173941767insTA	ENST00000367696.2	-	8	1454		c.e8-1		RC3H1_ENST00000258349.4_Splice_Site|RC3H1_ENST00000367694.2_Splice_Site			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1						cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						GGAGGAGCATCTATACAACCAA	0.361													11	69	---	---	---	---						TA	173941767	-	TA	173941766	8	5	146	1	0	1	1	0	0	0	1	0	13218	927	32	0	2351	0	RC3H1	1	173941766	Splice_Site	INS	-	TCGA-G9-6494-01A-11D-1786-08	82159807	173941766	75308855	4	6955											
KIF21B	23046	broad.mit.edu	37	chr1	200960075	200960075	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggtgccattgacagtgggcGcaggatggtcccccaagaag	9	6	16	10	1	0	2	0	1	0	1	1	3	1	3	3	4	1	1	3	4	2	1			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr1:200960075G>T	ENST00000332129.2	-	18	2973	c.2657C>A	c.(2656-2658)gCg>gAg	p.A886E	KIF21B_ENST00000360529.5_Missense_Mutation_p.A886E|KIF21B_ENST00000422435.2_Missense_Mutation_p.A886E|KIF21B_ENST00000461742.2_Missense_Mutation_p.A886E	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	886					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.A886E(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GACAGTGGGCGCAGGATGGTC	0.632													7	96					0.00307968	0.00332804	0.038147	1	0	T	200960075	G	T	200960075	3	4	146	1	0	0	0	0	1	0	0	0	8331	1087	38	4	2285	4	KIF21B	1	200960075	Missense_Mutation	SNP	G	TCGA-G9-6494-01A-11D-1786-08	27018309	200960075	48290546	5	6956											
ITGB1BP1	9270	broad.mit.edu	37	chr2	9558813	9558813	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tactactgtgtcgttttttgCccttgcgaaacatttttcac	7	18	6	10	2	1	0	1	0	0	0	2	1	1	0	1	0	5	1	1	0	3	8			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr2:9558813C>T	ENST00000360635.3	-	3	910	c.14G>A	c.(13-15)gGc>gAc	p.G5D	ITGB1BP1_ENST00000355346.4_Missense_Mutation_p.G5D|ITGB1BP1_ENST00000238091.4_Missense_Mutation_p.G5D|ITGB1BP1_ENST00000456913.2_Missense_Mutation_p.G5D|ITGB1BP1_ENST00000490426.1_Intron|ITGB1BP1_ENST00000488451.1_Missense_Mutation_p.G5D|ITGB1BP1_ENST00000359712.3_Missense_Mutation_p.G5D			O14713	ITBP1_HUMAN	integrin beta 1 binding protein 1	5					cell migration|cell-matrix adhesion|intracellular protein kinase cascade	cytosol|lamellipodium|membrane|ruffle	protein binding	p.G5D(1)		kidney(2)|large_intestine(2)|lung(2)|prostate(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.23)		TCGTTTTTTGCCCTTGCGAAA	0.393													5	231					0	0	0.184627	0	0	T	9558813	C	T	9558813	3	4	146	1	0	0	0	0	1	0	0	0	7935	739	26	2	612	2	ITGB1BP1	2	9558813	Missense_Mutation	SNP	C	TCGA-G9-6494-01A-11D-1786-08		9558813	233640560	6	6957											
SIX2	10736	broad.mit.edu	37	chr2	45233549	45233549	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggagtcttctcatcctcCgagctgcctaacaccgactt	8	11	8	14	2	2	0	1	0	2	0	5	4	4	1	4	1	3	1	4	1	1	3			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr2:45233549C>T	ENST00000303077.6	-	2	955	c.636G>A	c.(634-636)tcG>tcA	p.S212S		NM_016932.4	NP_058628.3	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	212						nucleus	sequence-specific DNA binding transcription factor activity	p.S212S(2)		endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TCTCATCCTCCGAGCTGCCTA	0.632													39	105					0	0	0.104719	0	0	T	45233549	C	T	45233549	2	4	146	1	0	0	0	0	0	0	0	1	14402	639	23	1		1	SIX2	2	45233549	Silent	SNP	C	TCGA-G9-6494-01A-11D-1786-08	35674736	45233549	197965824	7	6958											
SPEG	10290	broad.mit.edu	37	chr2	220331957	220331957	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggacgtggacgtgggggcCggggagatggcgctgtttga	6	7	21	7	4	0	2	0	1	0	1	0	5	0	4	1	7	0	2	1	7	0	1			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr2:220331957C>T	ENST00000312358.7	+	10	3075	c.2943C>T	c.(2941-2943)gcC>gcT	p.A981A	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	981	Ig-like 4.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	p.A981A(2)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		ACGTGGGGGCCGGGGAGATGG	0.692											OREG0004000	type=REGULATORY REGION|Gene=APEG1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	57	104					0	0	0.139131	0	0	T	220331957	C	T	220331957	2	4	146	1	0	0	0	0	0	0	0	1	15092	639	23	1		1	SPEG	2	220331957	Silent	SNP	C	TCGA-G9-6494-01A-11D-1786-08	175098408	220331957	22867416	8	6959											
DCBLD2	131566	broad.mit.edu	37	chr3	98519475	98519475	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctcttggactcaggtgattAacttcgctgctgctatagcg	7	14	10	10	2	2	1	1	1	1	0	4	2	2	2	0	2	4	3	0	2	3	5			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr3:98519475A>C	ENST00000326840.6	-	15	2168	c.1806T>G	c.(1804-1806)gtT>gtG	p.V602V	DCBLD2_ENST00000326857.9_Silent_p.V616V	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	602					cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane		p.V602V(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						TCAGGTGATTAACTTCGCTGC	0.507													3	153					0	0	0.115264	0	0	C	98519475	A	C	98519475	2	2	146	1	0	0	0	0	0	0	0	1	4304	349	13	5		5	DCBLD2	3	98519475	Silent	SNP	A	TCGA-G9-6494-01A-11D-1786-08		98519475	99502955	9	6960											
PFN2	5217	broad.mit.edu	37	chr3	149686232	149686232	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgtgcagtcaccatcgaCgtatagactatctctgatca	11	12	7	11	2	3	2	2	1	1	1	5	3	3	2	1	0	1	2	1	0	3	4			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr3:149686232C>A	ENST00000239940.7	-	2	490	c.238G>T	c.(238-240)Gtc>Ttc	p.V80F	PFN2_ENST00000497148.1_Missense_Mutation_p.V31F|PFN2_ENST00000489155.1_Missense_Mutation_p.V31F|PFN2_ENST00000481767.1_Missense_Mutation_p.V31F|PFN2_ENST00000481275.1_Missense_Mutation_p.V31F|PFN2_ENST00000475518.1_Missense_Mutation_p.V31F|PFN2_ENST00000461930.1_3'UTR|PFN2_ENST00000494827.1_Missense_Mutation_p.V31F|PFN2_ENST00000461868.1_Missense_Mutation_p.V80F|PFN2_ENST00000498307.1_Missense_Mutation_p.V31F|PFN2_ENST00000452853.2_Missense_Mutation_p.V80F|PFN2_ENST00000423691.2_Missense_Mutation_p.V80F|PFN2_ENST00000490975.1_Missense_Mutation_p.V80F			P35080	PROF2_HUMAN	profilin 2	80					actin cytoskeleton organization|regulation of actin polymerization or depolymerization	actin cytoskeleton|cytoplasm	actin binding|phosphatidylinositol-4,5-bisphosphate binding	p.V80F(2)		large_intestine(1)|lung(4)|ovary(1)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TCACCATCGACGTATAGACTA	0.473													70	190					3.13743e-37	3.75371e-37	0.139131	1	0	A	149686232	C	A	149686232	3	1	146	1	0	0	0	0	1	0	0	0	11816	536	19	4	294	4	PFN2	3	149686232	Missense_Mutation	SNP	C	TCGA-G9-6494-01A-11D-1786-08	51166757	149686232	48336198	10	6961											
BMP2K	55589	broad.mit.edu	37	chr4	79786791	79786791	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caactctgctactactgccaCtcccagtgtgctgaccattc	8	11	6	16	0	1	1	0	1	1	0	3	1	2	1	3	0	6	2	3	0	3	3			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr4:79786791C>T	ENST00000335016.5	+	10	1314	c.1148C>T	c.(1147-1149)aCt>aTt	p.T383I	BMP2K_ENST00000502871.1_Missense_Mutation_p.T383I	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	383						nucleus	ATP binding|protein serine/threonine kinase activity	p.T383I(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						ACTACTGCCACTCCCAGTGTG	0.443													15	69					0	0	0.146539	0	0	T	79786791	C	T	79786791	3	4	146	1	0	0	0	0	1	0	0	0	1459	565	20	2	1186	2	BMP2K	4	79786791	Missense_Mutation	SNP	C	TCGA-G9-6494-01A-11D-1786-08		79786791	111367485	11	6962											
SKIV2L2	23517	broad.mit.edu	37	chr5	54642959	54642959	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcacttcaaatgaccaaattAgatttcaacacaggtactac	16	10	5	10	0	2	2	2	1	0	1	2	2	2	2	1	1	3	2	1	1	6	5			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr5:54642959A>C	ENST00000230640.5	+	11	1481	c.1227A>C	c.(1225-1227)ttA>ttC	p.L409F	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.L308F	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	409	Helicase C-terminal.				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.L409F(1)		NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				TGACCAAATTAGATTTCAACA	0.269													27	68					0	0	0.125774	0	0	C	54642959	A	C	54642959	3	2	146	1	0	0	0	0	1	0	0	0	14415	417	15	5	1269	5	SKIV2L2	5	54642959	Missense_Mutation	SNP	A	TCGA-G9-6494-01A-11D-1786-08		54642959	126272301	12	6963											
ZNF366	0	broad.mit.edu	37	chr5	71756812	71756812	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggtagtaggggtagggcgtgGgcaggaatggagtgggcgtt	7	8	23	3	2	0	0	0	0	0	0	0	2	0	2	0	8	0	5	0	8	4	4			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr5:71756812G>A	ENST00000318442.5	-	2	1002	c.512C>T	c.(511-513)cCc>cTc	p.P171L		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GTAGGGCGTGGGCAGGAATGG	0.642													5	182					0	0	0.021553	0	0	A	71756812	G	A	71756812	3	1	146	1	0	0	0	0	1	0	0	0	17927	1232	43	2	1738	2	ZNF366	5	71756812	Missense_Mutation	SNP	G	TCGA-G9-6494-01A-11D-1786-08	17113853	71756812	109158448	13	6964											
RWDD2A	112611	broad.mit.edu	37	chr6	83905528	83905528	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcttatttcctgaacagaaAgcttgtatatgaaccatcta	14	14	5	8	0	2	3	0	2	2	1	3	3	3	3	2	0	3	2	2	0	7	6			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr6:83905528A>T	ENST00000369724.4	+	3	621	c.416A>T	c.(415-417)aAg>aTg	p.K139M	RWDD2A_ENST00000539997.1_Missense_Mutation_p.K85M	NM_033411.3	NP_219479.2	Q9UIY3	RWD2A_HUMAN	RWD domain containing 2A	139								p.K139M(1)		cervix(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	5		all_cancers(76;2.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00217)		BRCA - Breast invasive adenocarcinoma(397;0.045)		CTGAACAGAAAGCTTGTATAT	0.433													42	69					0	0	0.11126	0	0	T	83905528	A	T	83905528	3	4	146	1	0	0	0	0	1	0	0	0	13807	72	3	5	422	5	RWDD2A	6	83905528	Missense_Mutation	SNP	A	TCGA-G9-6494-01A-11D-1786-08		83905528	87209539	14	6965											
SLC16A10	117247	broad.mit.edu	37	chr6	111498553	111498553	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggcattgtcactgctggCagcagtgtcttcacaatcct	9	12	9	11	0	3	0	2	0	1	0	4	0	4	0	1	2	2	4	1	2	2	2			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr6:111498553C>T	ENST00000368851.5	+	3	802	c.627C>T	c.(625-627)ggC>ggT	p.G209G	SLC16A10_ENST00000368850.3_5'UTR|SLC16A10_ENST00000465319.1_3'UTR	NM_018593.4	NP_061063.2	Q8TF71	MOT10_HUMAN	solute carrier family 16 (aromatic amino acid transporter), member 10	209					aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport	basolateral plasma membrane|integral to membrane	amino acid transmembrane transporter activity	p.G209G(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)		TCACTGCTGGCAGCAGTGTCT	0.498													28	78					0	0	0.125774	0	0	T	111498553	C	T	111498553	2	4	146	1	0	0	0	0	0	0	0	1	14458	697	25	2		2	SLC16A10	6	111498553	Silent	SNP	C	TCGA-G9-6494-01A-11D-1786-08	27593025	111498553	59616514	15	6966											
TNFAIP3	7128	broad.mit.edu	37	chr6	138197133	138197133	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttctctttctttgaacagAcaaaatgctaagaagtttgg	12	15	7	7	0	2	3	0	1	2	2	3	3	2	3	0	1	2	2	0	1	5	5			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr6:138197133A>G	ENST00000237289.4	+	5	701	c.634_splice	c.e5-1	p.D212_splice	TNFAIP3_ENST00000485192.1_3'UTR	NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	212	OTU.|TRAF-binding.				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(25)|p.D212G(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		CTTTGAACAGACAAAATGCTA	0.438			"D, N, F"		"marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"								20	78					0	0	0.083992	0	0	G	138197133	A	G	138197133	5	3	146	1	0	0	0	0	0	0	1	0	16334	289	10	3	649	3	TNFAIP3	6	138197133	Splice_Site	SNP	A	TCGA-G9-6494-01A-11D-1786-08	26698580	138197133	32917934	16	6967											
QKI	9444	broad.mit.edu	37	chr6	163983069	163983069	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatggagcttgcgattctgaAtggcacctacagagatgcca	11	9	12	9	1	1	2	0	1	1	1	1	6	1	3	2	2	4	2	2	2	2	3			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr6:163983069A>G	ENST00000361752.3	+	5	1153	c.602A>G	c.(601-603)aAt>aGt	p.N201S	QKI_ENST00000424802.3_Missense_Mutation_p.N201S|QKI_ENST00000361195.2_Missense_Mutation_p.N201S|QKI_ENST00000453779.2_Missense_Mutation_p.N201S|QKI_ENST00000275262.7_Missense_Mutation_p.N201S|QKI_ENST00000392127.2_Missense_Mutation_p.N201S	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding	201					mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding	p.N201S(2)		central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		GCGATTCTGAATGGCACCTAC	0.448													20	41					0	0	0.062417	0	0	G	163983069	A	G	163983069	3	3	146	1	0	0	0	0	1	0	0	0	12925	101	4	3	620	3	QKI	6	163983069	Missense_Mutation	SNP	A	TCGA-G9-6494-01A-11D-1786-08	25785936	163983069	7131998	17	6968											
HEATR2	54919	broad.mit.edu	37	chr7	796543	796543	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgctggcctccgccatgcGgggttgcccccgagaagccc	4	6	15	16	3	0	1	0	0	0	1	1	2	1	1	6	4	4	2	6	4	1	1			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr7:796543G>C	ENST00000297440.6	+	6	1402	c.1382G>C	c.(1381-1383)cGg>cCg	p.R461P	HEATR2_ENST00000313147.5_Missense_Mutation_p.R461P	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	461							protein binding	p.R461P(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		TCCGCCATGCGGGGTTGCCCC	0.622													11	84					0	0	0.09319	0	0	C	796543	G	C	796543	3	2	146	1	0	0	0	0	1	0	0	0	7069	1116	39	4	1404	4	HEATR2	7	796543	Missense_Mutation	SNP	G	TCGA-G9-6494-01A-11D-1786-08		796543	158342120	18	6969											
EVX1	2128	broad.mit.edu	37	chr7	27283058	27283058	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actgcgccaccgggaacgccGagtaccagcacagcaaaggt	12	3	12	14	4	0	0	0	0	0	0	0	2	0	1	4	2	5	3	4	2	3	1			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr7:27283058G>A	ENST00000496902.4	+	1	895	c.409G>A	c.(409-411)Gag>Aag	p.E137K	EVX1_ENST00000222761.3_Intron|EVX1_ENST00000535619.1_Intron|EVX1-AS_ENST00000519218.1_RNA|EVX1-AS_ENST00000517726.1_RNA			P49640	EVX1_HUMAN	even-skipped homeobox 1	137						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E137K(1)		kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						CGGGAACGCCGAGTACCAGCA	0.657													4	41					0	0	0.150653	0	0	A	27283058	G	A	27283058	3	1	146	1	0	0	0	0	1	0	0	0	5321	1059	37	1	411	1	EVX1	7	27283058	Missense_Mutation	SNP	G	TCGA-G9-6494-01A-11D-1786-08	26486515	27283058	131855605	19	6970											
RP1	6101	broad.mit.edu	37	chr8	55533728	55533728	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agtcctttgatgctctgctgGataacttgtccaggaaggtg	8	13	12	8	0	1	1	0	1	1	0	3	3	3	3	2	3	3	2	2	3	2	3			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr8:55533728G>A	ENST00000220676.1	+	2	350	c.202G>A	c.(202-204)Gat>Aat	p.D68N		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	68	Doublecortin 1.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.D68N(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGCTCTGCTGGATAACTTGTC	0.597													4	133					0	0	0.150653	0	0	A	55533728	G	A	55533728	3	1	146	1	0	0	0	0	1	0	0	0	13584	1174	41	2	204	2	RP1	8	55533728	Missense_Mutation	SNP	G	TCGA-G9-6494-01A-11D-1786-08		55533728	90830294	20	6971											
ZNF485	220992	broad.mit.edu	37	chr10	44104060	44104060	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaattgggtttggttttgcAgggaccgctgacatttgggg	7	13	16	5	1	0	2	0	1	0	1	0	3	0	3	1	5	1	4	1	5	1	5			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr10:44104060A>T	ENST00000361807.3	+	3	218		c.e3-1		ZNF485_ENST00000374435.3_Splice_Site|ZNF485_ENST00000374437.2_Intron	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.?(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						TTGGTTTTGCAGGGACCGCTG	0.562													6	15					0	0	0.021553	0	0	T	44104060	A	T	44104060	5	4	146	1	0	0	0	0	0	0	1	0	17995	202	7	5	29	5	ZNF485	10	44104060	Splice_Site	SNP	A	TCGA-G9-6494-01A-11D-1786-08		44104060	91430687	21	6972											
ERCC6	2074	broad.mit.edu	37	chr10	50736488	50736492	+	Frame_Shift_Del	DEL	ATCTA	ATCTA	-																															tcctcctccagactggcgtgAtctagttcaattttcacctc																										TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr10:50736488_50736492delATCTA	ENST00000355832.5	-	4	701_705	c.623_627delTAGAT	c.(622-627)cfs	p.LD208fs	PGBD3_ENST00000603152.1_Frame_Shift_Del_p.LD208fs|ERCC6-PGBD3_ENST00000447839.2_Frame_Shift_Del_p.LD208fs|ERCC6-PGBD3_ENST00000515869.1_Frame_Shift_Del_p.LD208fs	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	208					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GACTGGCGTGATCTAGTTCAATTTT	0.459								Direct reversal of damage;Nucleotide excision repair (NER)					16	56	---	---	---	---						-	50736492	ATCTA	-	50736488	7	5	146	1	0	1	0	1	0	0	0	0	5245	330	12	0	3926	0	ERCC6	10	50736488	Frame_Shift_Del	DEL	ATCTA	TCGA-G9-6494-01A-11D-1786-08	6632428	50736488	84798259	22	6973											
ZNF214	0	broad.mit.edu	37	chr11	7021497	7021497	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gaagcccttcccacattcagGacaagtatagggtttctccc	10	10	8	13	0	2	0	1	0	1	0	4	2	3	1	3	2	1	2	3	2	4	5			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr11:7021497G>C	ENST00000278314.4	-	3	1732	c.1417C>G	c.(1417-1419)Cct>Gct	p.P473A	ZNF214_ENST00000536068.1_Missense_Mutation_p.P473A	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	473					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P473A(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		CCACATTCAGGACAAGTATAG	0.438													12	52					0	0	0.09319	0	0	C	7021497	G	C	7021497	3	2	146	1	0	0	0	0	1	0	0	0	17828	1174	41	4	407	4	ZNF214	11	7021497	Missense_Mutation	SNP	G	TCGA-G9-6494-01A-11D-1786-08		7021497	127985019	23	6974											
ANO3	63982	broad.mit.edu	37	chr11	26620449	26620449	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaagtattacaagatggaGattgtaaatcccatcacggg	14	9	10	8	1	1	2	1	0	0	2	2	3	2	2	2	2	1	2	2	2	6	4			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr11:26620449G>T	ENST00000256737.3	+	16	2427	c.1575G>T	c.(1573-1575)gaG>gaT	p.E525D	ANO3_ENST00000531568.1_Missense_Mutation_p.E379D|ANO3_ENST00000525139.1_Missense_Mutation_p.E509D|ANO3_ENST00000537978.1_Missense_Mutation_p.E509D	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	525						chloride channel complex	chloride channel activity	p.E525D(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						ACAAGATGGAGATTGTAAATC	0.383													9	31					9.70103e-10	1.12064e-09	0.069234	1	0	T	26620449	G	T	26620449	3	4	146	1	0	0	0	0	1	0	0	0	692	933	33	4	1637	4	ANO3	11	26620449	Missense_Mutation	SNP	G	TCGA-G9-6494-01A-11D-1786-08	19598952	26620449	108386067	24	6975											
B3GAT3	26229	broad.mit.edu	37	chr11	62384117	62384117	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acagcaagggcagggccacgGcaaatccagccatatccaca	14	3	10	14	1	0	0	0	0	0	0	2	0	2	0	4	3	2	3	4	3	3	1			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr11:62384117G>A	ENST00000531383.1	-	4	976	c.770C>T	c.(769-771)gCc>gTc	p.A257V	B3GAT3_ENST00000534026.1_Missense_Mutation_p.A257V|B3GAT3_ENST00000265471.5_Missense_Mutation_p.A257V			O94766	B3GA3_HUMAN	beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)	257					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding	p.A257V(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						CAGGGCCACGGCAAATCCAGC	0.612													3	52					0	0	0.115264	0	0	A	62384117	G	A	62384117	3	1	146	1	0	0	0	0	1	0	0	0	1253	1203	42	2	245	2	B3GAT3	11	62384117	Missense_Mutation	SNP	G	TCGA-G9-6494-01A-11D-1786-08	35763668	62384117	72622399	25	6976											
HRASLS2	54979	broad.mit.edu	37	chr11	63326111	63326111	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggcagacaggacactggccGcaccagctccagcaatttca	11	5	11	14	1	1	1	1	0	0	1	2	2	2	2	3	3	2	4	3	3	1	1			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr11:63326111G>A	ENST00000255695.1	-	3	198	c.140C>T	c.(139-141)gCg>gTg	p.A47V		NM_017878.1	NP_060348.1	Q9NWW9	HRSL2_HUMAN	HRAS-like suppressor 2	47					lipid catabolic process	cytoplasm	acyltransferase activity|hydrolase activity	p.A47V(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6						GACACTGGCCGCACCAGCTCC	0.582													4	148					0	0	0.150653	0	0	A	63326111	G	A	63326111	3	1	146	1	0	0	0	0	1	0	0	0	7391	1087	38	1	356	1	HRASLS2	11	63326111	Missense_Mutation	SNP	G	TCGA-G9-6494-01A-11D-1786-08	941994	63326111	71680405	26	6977											
PLBD2	196463	broad.mit.edu	37	chr12	113822716	113822716	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcccgggtgggcccagcccCgggagccgggtgcttaccat	5	6	15	15	3	0	0	0	0	0	0	1	1	1	1	6	4	4	1	6	4	1	1			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr12:113822716C>G	ENST00000280800.3	+	8	1210	c.1179C>G	c.(1177-1179)ccC>ccG	p.P393P	PLBD2_ENST00000545182.2_Intron	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	393					lipid catabolic process	lysosomal lumen	hydrolase activity	p.P393P(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						GGCCCAGCCCCGGGAGCCGGG	0.667													3	39					0	0	0.115264	0	0	G	113822716	C	G	113822716	2	3	146	1	0	0	0	0	0	0	0	1	12074	639	23	4		4	PLBD2	12	113822716	Silent	SNP	C	TCGA-G9-6494-01A-11D-1786-08		113822716	20029179	27	6978											
SIX1	6495	broad.mit.edu	37	chr14	61115639	61115639	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcggcctccacgtaatgcGccttcagccacagttgctgc	6	10	9	16	3	2	0	1	0	1	0	4	0	3	0	4	1	4	3	4	1	1	3			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr14:61115639G>A	ENST00000247182.6	-	1	541	c.269C>T	c.(268-270)gCg>gTg	p.A90V	SIX1_ENST00000554986.1_Intron	NM_005982.3	NP_005973.1	Q15475	SIX1_HUMAN	SIX homeobox 1	90					branching involved in ureteric bud morphogenesis|embryonic cranial skeleton morphogenesis|epithelial cell differentiation|inner ear morphogenesis|mesonephric tubule formation|metanephric mesenchyme development|myoblast migration|negative regulation of neuron apoptosis|organ induction|pattern specification process|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|protein localization to nucleus|regulation of branch elongation involved in ureteric bud branching|regulation of neuron differentiation|skeletal muscle tissue development|thymus development|thyroid gland development	nucleolus|transcription factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.A90V(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0201)		CACGTAATGCGCCTTCAGCCA	0.627													6	189					0	0	0.02938	0	0	A	61115639	G	A	61115639	3	1	146	1	0	0	0	0	1	0	0	0	14401	1087	38	1	593	1	SIX1	14	61115639	Missense_Mutation	SNP	G	TCGA-G9-6494-01A-11D-1786-08		61115639	46233901	28	6979											
TSHR	7253	broad.mit.edu	37	chr14	81422160	81422160	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcacctgcaaggatattcaaCgcatccccagcttaccgccc	10	8	6	17	2	2	0	2	0	0	0	3	1	3	1	5	1	4	3	5	1	4	3			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr14:81422160C>T	ENST00000541158.2	+	2	458	c.136C>T	c.(136-138)Cgc>Tgc	p.R46C	TSHR_ENST00000554263.1_Missense_Mutation_p.R46C|TSHR_ENST00000342443.6_Missense_Mutation_p.R46C|TSHR_ENST00000298171.2_Missense_Mutation_p.R46C|TSHR_ENST00000557096.1_3'UTR|TSHR_ENST00000554435.1_Missense_Mutation_p.R46C			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	46					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	p.R46C(3)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	GGATATTCAACGCATCCCCAG	0.607			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						31	92					0	0	0.134883	0	0	T	81422160	C	T	81422160	3	4	146	1	0	0	0	0	1	0	0	0	16683	536	19	1	138	1	TSHR	14	81422160	Missense_Mutation	SNP	C	TCGA-G9-6494-01A-11D-1786-08	20306521	81422160	25927380	29	6980											
IGDCC4	57722	broad.mit.edu	37	chr15	65687537	65687537	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtgttgggttccaggtcccGaacctgtagttctgtggtgt	4	15	14	8	1	1	0	0	0	1	0	3	1	3	0	3	3	1	4	3	3	2	4			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr15:65687537G>A	ENST00000352385.2	-	8	1680	c.1471C>T	c.(1471-1473)Cgg>Tgg	p.R491W		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	491	Fibronectin type-III 1.					integral to membrane|plasma membrane		p.R491W(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						TCCAGGTCCCGAACCTGTAGT	0.572													18	39					0	0	0.189662	0	0	A	65687537	G	A	65687537	3	1	146	1	0	0	0	0	1	0	0	0	7613	1057	37	1	2333	1	IGDCC4	15	65687537	Missense_Mutation	SNP	G	TCGA-G9-6494-01A-11D-1786-08		65687537	36843855	30	6981											
FOXL1	2300	broad.mit.edu	37	chr16	86612373	86612373	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgcctgccctggccgcctCgcccatgctgtatctgtacg	3	10	11	17	3	1	0	0	0	1	0	2	0	1	0	5	1	4	4	5	1	2	2			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr16:86612373C>T	ENST00000320241.3	+	1	259	c.44C>T	c.(43-45)tCg>tTg	p.S15L		NM_005250.2	NP_005241.1	Q12952	FOXL1_HUMAN	forkhead box L1	15					brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|heart development|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of sequence-specific DNA binding transcription factor activity|regulation of Wnt receptor signaling pathway|visceral mesoderm-endoderm interaction involved in midgut development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.S15L(1)		central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1)	15						CTGGCCGCCTCGCCCATGCTG	0.726													18	73					0	0	0.175082	0	0	T	86612373	C	T	86612373	3	4	146	1	0	0	0	0	1	0	0	0	6050	893	31	1	46	1	FOXL1	16	86612373	Missense_Mutation	SNP	C	TCGA-G9-6494-01A-11D-1786-08		86612373	3742380	31	6982											
GLP2R	9340	broad.mit.edu	37	chr17	9739734	9739734	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagtacgtgtgttggcctcaTtcttctcctggaaatgtctc	6	15	9	11	1	4	0	1	0	3	0	6	1	4	1	2	2	1	2	2	2	2	4			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr17:9739734T>A	ENST00000262441.5	+	3	837	c.324T>A	c.(322-324)caT>caA	p.H108Q	GLP2R_ENST00000574745.1_5'UTR	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	108					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane		p.H108Q(1)		endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	GTTGGCCTCATTCTTCTCCTG	0.428													15	140					0	0	0.189662	0	0	A	9739734	T	A	9739734	3	1	146	1	0	0	0	0	1	0	0	0	6495	1490	52	5	334	5	GLP2R	17	9739734	Missense_Mutation	SNP	T	TCGA-G9-6494-01A-11D-1786-08		9739734	71455476	32	6983											
MYH4	4622	broad.mit.edu	37	chr17	10356642	10356642	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctcttctgtgaggttttTcacctttagattagaacaga	10	16	7	8	0	3	4	1	1	2	3	4	4	3	4	1	1	1	1	1	1	3	6			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr17:10356642T>G	ENST00000255381.2	-	24	3048	c.2938A>C	c.(2938-2940)Aaa>Caa	p.K980Q	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	980					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.K980Q(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GTGAGGTTTTTCACCTTTAGA	0.438													38	90					0	0	0.214465	0	0	G	10356642	T	G	10356642	3	3	146	1	0	0	0	0	1	0	0	0	10085	1792	62	5	2949	5	MYH4	17	10356642	Missense_Mutation	SNP	T	TCGA-G9-6494-01A-11D-1786-08	616908	10356642	70838568	33	6984											
TOP2A	7153	broad.mit.edu	37	chr17	38555127	38555127	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttggtccagaatctgttacGgagtcactcttttcagtttc	7	16	9	9	1	4	1	2	0	2	1	6	2	5	2	1	2	1	3	1	2	2	5			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr17:38555127G>T	ENST00000423485.1	-	26	3509	c.3351C>A	c.(3349-3351)tcC>tcA	p.S1117S		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	1117					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding	p.S1117S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	AATCTGTTACGGAGTCACTCT	0.353													8	57					0.000157383	0.000175745	0.038147	1	0	T	38555127	G	T	38555127	2	4	146	1	0	0	0	0	0	0	0	1	16426	1103	39	4		4	TOP2A	17	38555127	Silent	SNP	G	TCGA-G9-6494-01A-11D-1786-08	28198485	38555127	42640083	34	6985											
CCDC57	284001	broad.mit.edu	37	chr17	80129645	80129645	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaggacatctttaaaggaTccaacacatcttctagatgc	13	11	8	9	0	3	2	0	1	3	1	4	4	4	4	1	2	2	0	1	2	4	4			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr17:80129645T>C	ENST00000389641.4	-	12	1850	c.1814A>G	c.(1813-1815)gAt>gGt	p.D605G	CCDC57_ENST00000392343.3_Missense_Mutation_p.D605G|CCDC57_ENST00000327026.3_5'UTR|CCDC57_ENST00000392347.1_Missense_Mutation_p.D605G			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	605								p.D605G(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			CTTTAAAGGATCCAACACATC	0.468													5	92					0	0	0.184627	0	0	C	80129645	T	C	80129645	3	2	146	1	0	0	0	0	1	0	0	0	2847	1435	50	3	957	3	CCDC57	17	80129645	Missense_Mutation	SNP	T	TCGA-G9-6494-01A-11D-1786-08	41574518	80129645	1065565	35	6986											
MUC16	94025	broad.mit.edu	37	chr19	9064360	9064360	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaggatgaggtgaggtcaCggcaggtaaagacagcgggg	13	4	18	6	2	1	3	1	2	0	1	1	4	1	4	0	7	2	2	0	7	3	1			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr19:9064360C>T	ENST00000397910.4	-	3	23289	c.23086G>A	c.(23086-23088)Gtg>Atg	p.V7696M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7698	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.V7696M(2)|p.V3329M(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTGAGGTCACGGCAGGTAAA	0.582													16	56					0	0	0.160694	0	0	T	9064360	C	T	9064360	3	4	146	1	0	0	0	0	1	0	0	0	10021	536	19	1	20765	1	MUC16	19	9064360	Missense_Mutation	SNP	C	TCGA-G9-6494-01A-11D-1786-08		9064360	50064623	36	6987											
ZNF799	90576	broad.mit.edu	37	chr19	12501649	12501649	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccagagtgaattctttcatgTacttttaagttaccaaaatg	13	15	6	7	0	2	2	1	1	1	1	2	2	2	2	2	0	2	2	2	0	6	6			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr19:12501649T>A	ENST00000419318.1	-	4	2216	c.1467A>T	c.(1465-1467)gtA>gtT	p.V489V	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Silent_p.V521V			Q96GE5	ZN799_HUMAN	zinc finger protein 799	521					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V308V(1)|p.V521V(1)		breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TTCTTTCATGTACTTTTAAGT	0.388													5	76					0	0	0.184627	0	0	A	12501649	T	A	12501649	2	1	146	1	0	0	0	0	0	0	0	1	18215	1625	57	5		5	ZNF799	19	12501649	Silent	SNP	T	TCGA-G9-6494-01A-11D-1786-08	3437289	12501649	46627334	37	6988											
CCDC8	83987	broad.mit.edu	37	chr19	46915974	46915974	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgaaattctgcttccttggTggcgggcttagagatgactc	7	12	12	10	2	1	2	0	1	1	1	3	4	2	2	2	3	1	2	2	3	2	4			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr19:46915974T>C	ENST00000307522.3	-	1	867	c.94A>G	c.(94-96)Acc>Gcc	p.T32A		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	32						plasma membrane		p.T32A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		gcttccttggtggcgggctta	0.637													3	78					0	0	0.115264	0	0	C	46915974	T	C	46915974	3	2	146	1	0	0	0	0	1	0	0	0	2873	1696	59	3	1526	3	CCDC8	19	46915974	Missense_Mutation	SNP	T	TCGA-G9-6494-01A-11D-1786-08	34414325	46915974	12213009	38	6989											
KLK2	3817	broad.mit.edu	37	chr19	51379825	51379826	+	Frame_Shift_Del	DEL	AA	AA	-																															gcttcccacacccgctctacAatatgagccttctgaagcat																										TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr19:51379825_51379826delAA	ENST00000325321.3	+	3	529_530	c.304_305delAA	c.(304-306)tfs	p.N102fs	KLK2_ENST00000391810.2_5'UTR|KLK2_ENST00000358049.4_Frame_Shift_Del_p.N102fs			P20151	KLK2_HUMAN	kallikrein-related peptidase 2	102	Peptidase S1.				proteolysis		serine-type endopeptidase activity		KLK2/ETV1(3)|KLK2/ETV4(2)	large_intestine(3)|lung(6)|ovary(1)|skin(1)	11		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)		CCCGCTCTACAATATGAGCCTT	0.554			T	ETV4	prostate								15	34	---	---	---	---						-	51379826	AA	-	51379825	7	5	146	1	0	1	0	1	0	0	0	0	8447	130	5	0	314	0	KLK2	19	51379825	Frame_Shift_Del	DEL	AA	TCGA-G9-6494-01A-11D-1786-08	4463851	51379825	7749158	39	6990											
TPX2	22974	broad.mit.edu	37	chr20	30363692	30363692	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagtttctaaaaagtactGaggagcaagagctggagaag	17	7	13	4	0	1	4	0	1	1	3	1	6	1	5	0	2	3	4	0	2	7	3			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr20:30363692G>T	ENST00000340513.4	+	8	1159	c.631G>T	c.(631-633)Gag>Tag	p.E211*	TPX2_ENST00000300403.6_Nonsense_Mutation_p.E211*			Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	211					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding	p.E211*(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			AAAAAGTACTGAGGAGCAAGA	0.418													24	54					1.66031e-10	1.95159e-10	0.0918	1	0	T	30363692	G	T	30363692	4	4	146	1	0	0	0	0	0	1	0	0	16493	1291	45	4	653	4	TPX2	20	30363692	Nonsense_Mutation	SNP	G	TCGA-G9-6494-01A-11D-1786-08		30363692	32661828	40	6991											
LBP	3929	broad.mit.edu	37	chr20	36974956	36974956	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagccctgccgtccatactgCtggcattgctgcttacgtcc	5	11	10	15	2	0	0	0	0	0	0	2	1	2	0	4	1	7	4	4	1	2	3			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr20:36974956C>T	ENST00000217407.2	+	1	198	c.37C>T	c.(37-39)Ctg>Ttg	p.L13L		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	13					acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding	p.L13L(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				GTCCATACTGCTGGCATTGCT	0.617													11	117					0	0	0.080935	0	0	T	36974956	C	T	36974956	2	4	146	1	0	0	0	0	0	0	0	1	8690	796	28	2		2	LBP	20	36974956	Silent	SNP	C	TCGA-G9-6494-01A-11D-1786-08	6611264	36974956	26050564	41	6992											
ADA	100	broad.mit.edu	37	chr20	43257807	43257807	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgggagggcgatccctctCctcctggaaacaaaacagtg	10	7	12	12	1	1	0	0	0	1	0	4	3	3	2	3	3	2	1	3	3	3	0			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr20:43257807C>A	ENST00000372874.4	-	3	233	c.99G>T	c.(97-99)agG>agT	p.R33S	ADA_ENST00000537820.1_Missense_Mutation_p.R33S	NM_000022.2	NP_000013.2	P00813	ADA_HUMAN	adenosine deaminase	33					adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation	cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome	adenosine deaminase activity|protein binding|zinc ion binding	p.R33S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	CGATCCCTCTCCTCCTGGAAA	0.602									Adenosine Deaminase Deficiency				14	66					4.3838e-07	4.97821e-07	0.105934	1	0	A	43257807	C	A	43257807	3	1	146	1	0	0	0	0	1	0	0	0	229	854	30	4	1032	4	ADA	20	43257807	Missense_Mutation	SNP	C	TCGA-G9-6494-01A-11D-1786-08	6282851	43257807	19767713	42	6993											
SFI1	9814	broad.mit.edu	37	chr22	32007282	32007282	+	Frame_Shift_Del	DEL	G	G	-																															gcaccatctgcagtgtgtcaGgaagagggtgaggctgacgg																										TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chr22:32007282delG	ENST00000432498.1	+	22	2708	c.2315delG	c.(2314-2316)agfs	p.R772fs	SFI1_ENST00000400289.1_Frame_Shift_Del_p.R721fs|SFI1_ENST00000443326.1_Frame_Shift_Del_p.R721fs|SFI1_ENST00000443011.1_Frame_Shift_Del_p.R650fs|SFI1_ENST00000540643.1_Frame_Shift_Del_p.R748fs|SFI1_ENST00000414585.1_Frame_Shift_Del_p.R650fs|SFI1_ENST00000400288.2_Frame_Shift_Del_p.R803fs	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	803					G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						CAGTGTGTCAGGAAGAGGGTG	0.622													10	26	---	---	---	---						-	32007282	G	-	32007282	7	5	146	1	0	1	0	1	0	0	0	0	14210	1000	35	0	2494	0	SFI1	22	32007282	Frame_Shift_Del	DEL	G	TCGA-G9-6494-01A-11D-1786-08		32007282	19297284	43	6994											
PCDH11Y	83259	broad.mit.edu	37	chrY	4966872	4966872	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattgctctcataactgtgaCggataaggatgcggaccata	13	10	10	8	2	1	1	1	1	1	0	2	4	1	4	1	3	3	1	1	3	4	4			TCGA-G9-6494-01A-11D-1786-08	TCGA-G9-6494-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d67b53-8534-402e-b082-1b75ec2aff1e	2821a5f1-f23f-467c-aa21-b9a0f8d623d8	g.chrY:4966872C>T	ENST00000333703.4	+	5	1733	c.1220C>T	c.(1219-1221)aCg>aTg	p.T407M	PCDH11Y_ENST00000215473.6_Missense_Mutation_p.T418M|PCDH11Y_ENST00000362095.5_Missense_Mutation_p.T418M	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	418	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T407M(1)|p.T418M(1)		autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						ATAACTGTGACGGATAAGGAT	0.413													18	25					0	0	0.069288	0	0	T	4966872	C	T	4966872	3	4	146	1	0	0	0	0	1	0	0	0	11556	536	19	1	1295	1	PCDH11Y	24	4966872	Missense_Mutation	SNP	C	TCGA-G9-6494-01A-11D-1786-08		4966872	54406694	44	6995											
LPPR5	0	broad.mit.edu	37	chr1	99422183	99422183	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accaagaaatcggacagttcGgcgcaccagcgggtttatat	12	8	11	10	4	0	1	0	0	0	1	2	2	0	2	2	3	1	3	2	3	4	4			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr1:99422183G>A	ENST00000370188.3	-	2	712	c.352C>T	c.(352-354)Cga>Tga	p.R118*	LPPR5_ENST00000263177.4_Nonsense_Mutation_p.R118*	NM_001010861.2	NP_001010861.1	Q32ZL2	LPPR5_HUMAN		118						integral to membrane	hydrolase activity	p.R118*(1)									CGGACAGTTCGGCGCACCAGC	0.358													25	28					0	0	0.01892	0	0	A	99422183	G	A	99422183	4	1	147	1	0	0	0	0	0	1	0	0	8973	1124	39	1	633	1	LPPR5	1	99422183	Nonsense_Mutation	SNP	G	TCGA-G9-6496-01A-11D-1786-08		99422183	149828438	1	6996											
C1orf192	257177	broad.mit.edu	37	chr1	161334829	161334829	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttggagttcatctggggAattgaggttggcagctgggg	6	12	18	5	0	2	1	1	1	1	0	2	3	2	3	0	7	1	5	0	7	1	4			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr1:161334829A>G	ENST00000367974.1	-	5	465	c.460T>C	c.(460-462)Tcc>Ccc	p.S154P		NM_001013625.2	NP_001013647.2	Q5VTH2	CA192_HUMAN	chromosome 1 open reading frame 192	154								p.S154P(1)		endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10	all_cancers(52;4.64e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TCATCTGGGGAATTGAGGTTG	0.498													35	70					0	0	0.013726	0	0	G	161334829	A	G	161334829	3	3	147	1	0	0	0	0	1	0	0	0	2037	246	9	3	77	3	C1orf192	1	161334829	Missense_Mutation	SNP	A	TCGA-G9-6496-01A-11D-1786-08	61912646	161334829	87915792	2	6997											
HSPA6	3310	broad.mit.edu	37	chr1	161494903	161494903	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcaccgtgcccgcctattTcaatgactcgcagcgccagg	8	8	10	15	4	2	1	2	1	0	0	3	2	2	1	4	1	2	1	4	1	2	2			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr1:161494903T>G	ENST00000309758.4	+	1	868	c.455T>G	c.(454-456)tTc>tGc	p.F152C		NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	152					response to unfolded protein		ATP binding	p.F152C(2)		endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CCCGCCTATTTCAATGACTCG	0.632													17	44					0	0	0.006122	0	0	G	161494903	T	G	161494903	3	3	147	1	0	0	0	0	1	0	0	0	7458	1783	62	5	457	5	HSPA6	1	161494903	Missense_Mutation	SNP	T	TCGA-G9-6496-01A-11D-1786-08	160074	161494903	87755718	3	6998											
NID1	4811	broad.mit.edu	37	chr1	236156998	236156998	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccacctcgcggccgtcgCgatccacgcaccagcagtag	7	5	10	19	6	0	0	0	0	0	0	4	1	2	0	6	1	1	3	6	1	1	1			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr1:236156998C>T	ENST00000264187.6	-	13	2784	c.2702G>A	c.(2701-2703)cGc>cAc	p.R901H	NID1_ENST00000366595.3_Missense_Mutation_p.R768H	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	901	Thyroglobulin type-1.				cell-matrix adhesion	basement membrane	calcium ion binding	p.R901H(1)		breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	GCGGCCGTCGCGATCCACGCA	0.697													5	12					0	0	0.001168	0	0	T	236156998	C	T	236156998	3	4	147	1	0	0	0	0	1	0	0	0	10461	768	27	1	1073	1	NID1	1	236156998	Missense_Mutation	SNP	C	TCGA-G9-6496-01A-11D-1786-08	74662095	236156998	13093623	4	6999											
TGOLN2	10618	broad.mit.edu	37	chr2	85553644	85553644	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacttaccttccgcttgttgTgatgagcgatatagaggaca	10	12	11	8	2	0	3	0	2	0	1	1	6	1	4	2	1	2	2	2	1	3	6			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr2:85553644T>C	ENST00000377386.3	-	2	1673	c.1211A>G	c.(1210-1212)cAc>cGc	p.H404R	TGOLN2_ENST00000444342.2_Missense_Mutation_p.H404R|TGOLN2_ENST00000409232.3_Missense_Mutation_p.H404R|TGOLN2_ENST00000409015.1_Missense_Mutation_p.H404R|TGOLN2_ENST00000398263.2_Missense_Mutation_p.H346R|TGOLN2_ENST00000282120.2_Missense_Mutation_p.H248R			O43493	TGON2_HUMAN	trans-golgi network protein 2	404						integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding	p.H404R(1)									CCGCTTGTTGTGATGAGCGAT	0.562													26	41					0	0	0.005443	0	0	C	85553644	T	C	85553644	3	2	147	1	0	0	0	0	1	0	0	0	15896	1696	59	3	114	3	TGOLN2	2	85553644	Missense_Mutation	SNP	T	TCGA-G9-6496-01A-11D-1786-08		85553644	157645729	5	7000											
SCN3A	6328	broad.mit.edu	37	chr2	166020180	166020180	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaactctgaatgttctcaaCgctgagacattgcccaggtc	11	10	9	11	1	2	3	1	2	2	2	4	4	2	3	1	1	3	2	1	1	3	2			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr2:166020180C>T	ENST00000283254.7	-	7	1109	c.642G>A	c.(640-642)gcG>gcA	p.A214A	SCN3A_ENST00000360093.3_Intron|SCN3A_ENST00000409101.3_Intron	NM_001081676.1|NM_006922.3	NP_001075145.1|NP_008853.3	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	214						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.A214A(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	ATGTTCTCAACGCTGAGACAT	0.408													26	32					0	0	0.007291	0	0	T	166020180	C	T	166020180	2	4	147	1	0	0	0	0	0	0	0	1	13972	523	19	1		1	SCN3A	2	166020180	Silent	SNP	C	TCGA-G9-6496-01A-11D-1786-08	80466536	166020180	77179193	6	7001											
CPS1	1373	broad.mit.edu	37	chr2	211541794	211541794	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aacaacaacactaaatttgtCcatgataattatgtgattcg	16	13	5	7	1	0	2	0	2	0	0	2	2	1	2	1	0	3	0	1	0	7	5			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr2:211541794C>T	ENST00000233072.5	+	37	4534	c.4338C>T	c.(4336-4338)gtC>gtT	p.V1446V	CPS1_ENST00000430249.2_Silent_p.V1452V|CPS1_ENST00000451903.2_Silent_p.V995V	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1446					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	p.V1446V(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		CTAAATTTGTCCATGATAATT	0.378													48	89					0	0	0.01441	0	0	T	211541794	C	T	211541794	2	4	147	1	0	0	0	0	0	0	0	1	3846	842	30	2		2	CPS1	2	211541794	Silent	SNP	C	TCGA-G9-6496-01A-11D-1786-08	45521614	211541794	31657579	7	7002											
SPAG16	79582	broad.mit.edu	37	chr2	214794778	214794778	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacctttgaaggacacagcCgcgcagtgtggtcctgcaca	9	8	12	12	2	0	2	0	2	0	0	1	3	1	3	3	2	2	2	3	2	1	1	rs142357329	byFrequency	TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr2:214794778C>T	ENST00000331683.5	+	12	1404	c.1309C>T	c.(1309-1311)Cgc>Tgc	p.R437C	SPAG16_ENST00000374309.3_Missense_Mutation_p.R343C	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	437					cilium assembly	cilium axoneme|flagellar axoneme		p.R437C(2)		endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		AGGACACAGCCGCGCAGTGTG	0.438													49	50					0	0	0.01441	0	0	T	214794778	C	T	214794778	3	4	147	1	0	0	0	0	1	0	0	0	15034	652	23	1	1371	1	SPAG16	2	214794778	Missense_Mutation	SNP	C	TCGA-G9-6496-01A-11D-1786-08	3252984	214794778	28404595	8	7003											
FBLN2	2199	broad.mit.edu	37	chr3	13663379	13663379	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accacacagtgctctgtgccGatggctatatcctcaatgcg	9	10	9	13	2	2	0	1	0	1	0	3	1	3	0	3	1	3	2	3	1	3	2			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr3:13663379G>T	ENST00000404922.3	+	9	2379	c.2260G>T	c.(2260-2262)Gat>Tat	p.D754Y	FBLN2_ENST00000492059.1_Missense_Mutation_p.D754Y|FBLN2_ENST00000535798.1_Intron|FBLN2_ENST00000295760.7_Intron	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	753	EGF-like 3; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	p.D754Y(1)|p.D173Y(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GCTCTGTGCCGATGGCTATAT	0.612													11	27					3.07112e-06	3.43549e-06	0.010729	1	0	T	13663379	G	T	13663379	3	4	147	1	0	0	0	0	1	0	0	0	5732	1058	37	4	980	4	FBLN2	3	13663379	Missense_Mutation	SNP	G	TCGA-G9-6496-01A-11D-1786-08		13663379	184359051	9	7004											
PRSS50	29122	broad.mit.edu	37	chr3	46759103	46759103	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcagtggacagcgcccccGgggcttcccctgcgccccag	5	4	13	19	3	0	0	0	0	0	0	1	1	1	1	6	3	3	2	6	3	0	1			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr3:46759103G>A	ENST00000460241.1	-	7	1801	c.131C>T	c.(130-132)cCg>cTg	p.P44L	PRSS50_ENST00000315170.7_Missense_Mutation_p.P44L			Q9UI38	TSP50_HUMAN	protease, serine, 50	44					proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity	p.P44L(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						CAGCGCCCCCGGGGCTTCCCC	0.706													12	17					0	0	0.010729	0	0	A	46759103	G	A	46759103	3	1	147	1	0	0	0	0	1	0	0	0	12680	1116	39	1	1046	1	PRSS50	3	46759103	Missense_Mutation	SNP	G	TCGA-G9-6496-01A-11D-1786-08	33095724	46759103	151263327	10	7005											
MYLK	4638	broad.mit.edu	37	chr3	123451902	123451902	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gccttcctgtctcctcacggGggtgccttccaggaaccagg	5	9	12	15	1	2	0	1	0	1	0	5	1	4	1	6	4	2	0	6	4	1	2			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr3:123451902G>C	ENST00000360772.3	-	12	1735	c.1357C>G	c.(1357-1359)Ccc>Gcc	p.P453A	MYLK_ENST00000360304.3_Missense_Mutation_p.P453A|MYLK_ENST00000359169.1_Missense_Mutation_p.P453A|MYLK_ENST00000346322.5_Intron|MYLK_ENST00000475616.1_Missense_Mutation_p.P453A			Q15746	MYLK_HUMAN	myosin light chain kinase	453	Ig-like C2-type 3.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	p.P453A(2)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CTCCTCACGGGGGTGCCTTCC	0.572													6	26					0	0	0.001984	0	0	C	123451902	G	C	123451902	3	2	147	1	0	0	0	0	1	0	0	0	10104	1232	43	4	4483	4	MYLK	3	123451902	Missense_Mutation	SNP	G	TCGA-G9-6496-01A-11D-1786-08	76692799	123451902	74570528	11	7006											
IFT122	55764	broad.mit.edu	37	chr3	129188218	129188218	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatcctggctgtggctgaCtggggacagaaagtttcctt	8	11	13	9	0	0	2	0	1	0	1	2	4	2	3	2	4	0	3	2	4	1	2			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr3:129188218C>G	ENST00000296266.3	+	10	1119	c.927C>G	c.(925-927)gaC>gaG	p.D309E	IFT122_ENST00000440957.2_Missense_Mutation_p.D49E|IFT122_ENST00000431818.2_Missense_Mutation_p.D108E|IFT122_ENST00000349441.2_Missense_Mutation_p.D147E|IFT122_ENST00000348417.2_Missense_Mutation_p.D258E|IFT122_ENST00000347300.2_Missense_Mutation_p.D199E|IFT122_ENST00000507564.1_Missense_Mutation_p.D250E|IFT122_ENST00000504021.1_Missense_Mutation_p.D152E	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	258					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium		p.D309E(1)		breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						CTGTGGCTGACTGGGGACAGA	0.443													63	79					0	0	0.01441	0	0	G	129188218	C	G	129188218	3	3	147	1	0	0	0	0	1	0	0	0	7599	564	20	4	965	4	IFT122	3	129188218	Missense_Mutation	SNP	C	TCGA-G9-6496-01A-11D-1786-08	5736316	129188218	68834212	12	7007											
DGKQ	1609	broad.mit.edu	37	chr4	956320	956320	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgagcacggcgtcggccTcgtccacagacagcagtacg	9	5	12	15	5	0	2	0	1	0	1	3	2	1	2	3	2	3	3	3	2	1	1			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr4:956320T>C	ENST00000273814.3	-	18	2190	c.2117A>G	c.(2116-2118)gAg>gGg	p.E706G		NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	706	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding	p.E706G(1)		breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GGCGTCGGCCTCGTCCACAGA	0.657													8	22					0	0	0.004482	0	0	C	956320	T	C	956320	3	2	147	1	0	0	0	0	1	0	0	0	4501	1551	54	3	735	3	DGKQ	4	956320	Missense_Mutation	SNP	T	TCGA-G9-6496-01A-11D-1786-08		956320	190197956	13	7008											
ADH1B	125	broad.mit.edu	37	chr4	100237249	100237249	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaacctcctggtgccatcctGcagggtcccccgaggattgc	6	8	12	15	1	0	0	0	0	0	0	3	3	3	1	6	3	4	1	6	3	1	1			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr4:100237249G>T	ENST00000305046.8	-	5	440	c.373C>A	c.(373-375)Cag>Aag	p.Q125K	ADH1B_ENST00000394887.3_Missense_Mutation_p.Q85K			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	125					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding	p.Q125K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	GTGCCATCCTGCAGGGTCCCC	0.547													20	33					6.33239e-15	7.20582e-15	0.010504	1	0	T	100237249	G	T	100237249	3	4	147	1	0	0	0	0	1	0	0	0	307	1328	46	4	774	4	ADH1B	4	100237249	Missense_Mutation	SNP	G	TCGA-G9-6496-01A-11D-1786-08	99280929	100237249	90917027	14	7009											
MEGF10	84466	broad.mit.edu	37	chr5	126771182	126771182	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggcagtgactgctctcaacGtaagtcttgtttgagaacaa	11	12	10	8	1	2	2	1	2	2	1	3	3	2	2	0	1	3	4	0	1	4	3			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr5:126771182G>C	ENST00000274473.6	+	17	2371		c.e17+1		MEGF10_ENST00000503335.2_Splice_Site	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10						cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		p.?(1)		breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		TGCTCTCAACGTAAGTCTTGT	0.373													15	17					0	0	0.00245	0	0	C	126771182	G	C	126771182	5	2	147	1	0	0	0	0	0	0	1	0	9510	1159	40	4	2163	4	MEGF10	5	126771182	Splice_Site	SNP	G	TCGA-G9-6496-01A-11D-1786-08		126771182	54144078	15	7010											
LAMA4	3910	broad.mit.edu	37	chr6	112441551	112441551	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagttttttgtgaccaacatTaaacatgtaaaccaagcggc	14	11	7	9	1	0	1	0	1	0	0	0	1	0	1	2	1	4	2	2	1	6	5			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr6:112441551T>G	ENST00000230538.7	-	33	4997	c.4600A>C	c.(4600-4602)Aat>Cat	p.N1534H	LAMA4_ENST00000522006.1_Missense_Mutation_p.N1527H|LAMA4_ENST00000389463.4_Missense_Mutation_p.N1527H|LAMA4_ENST00000424408.2_Missense_Mutation_p.N1527H	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1534	Laminin G-like 4.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	p.N1527H(1)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TGACCAACATTAAACATGTAA	0.418													20	16					0	0	0.008871	0	0	G	112441551	T	G	112441551	3	3	147	1	0	0	0	0	1	0	0	0	8647	1754	61	5	899	5	LAMA4	6	112441551	Missense_Mutation	SNP	T	TCGA-G9-6496-01A-11D-1786-08		112441551	58673516	16	7011											
NOX3	50508	broad.mit.edu	37	chr6	155761273	155761274	+	Splice_Site	INS	-	-	A																															caattcagtggttgtgttctINSaaaaaaaacaacaacaacaa																										TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr6:155761273_155761274insA	ENST00000159060.2	-	6	589		c.e6-2			NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3								electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		GGTTGTGTTCTaaaaaaaacaa	0.356													28	33	---	---	---	---						A	155761274	-	A	155761273	8	5	147	1	0	1	1	0	0	0	1	0	10604	1536	53	0	1253	0	NOX3	6	155761273	Splice_Site	INS	-	TCGA-G9-6496-01A-11D-1786-08	43319722	155761273	15353794	17	7012											
SRCRB4D	136853	broad.mit.edu	37	chr7	76029805	76029805	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcgacacactacgttggcGtccaccacgtcccagtcgtc	7	8	10	16	5	0	0	0	0	0	0	4	1	2	0	3	2	1	1	3	2	1	2			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr7:76029805G>A	ENST00000275560.3	-	4	620	c.273C>T	c.(271-273)gaC>gaT	p.D91D	ZP3_ENST00000336517.4_Intron	NM_080744.1	NP_542782.1	Q8WTU2	SRB4D_HUMAN	scavenger receptor cysteine rich domain containing, group B (4 domains)	91	SRCR 1.					extracellular region|membrane	scavenger receptor activity	p.D91D(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						CTACGTTGGCGTCCACCACGT	0.701													6	7					0	0	0.001984	0	0	A	76029805	G	A	76029805	2	1	147	1	0	0	0	0	0	0	0	1	15193	1136	40	1		1	SRCRB4D	7	76029805	Silent	SNP	G	TCGA-G9-6496-01A-11D-1786-08		76029805	83108858	18	7013											
ABCB1	5243	broad.mit.edu	37	chr7	87138593	87138593	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atttgaagagagacttacatTaggcagtgactcgatgaagg	14	10	12	5	1	0	5	0	3	0	2	1	7	0	5	0	2	1	1	0	2	4	3			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr7:87138593T>C	ENST00000265724.3	-	27	3904	c.3487A>G	c.(3487-3489)Aat>Gat	p.N1163D	ABCB1_ENST00000543898.1_Missense_Mutation_p.N1099D|ABCB1_ENST00000488737.2_5'UTR	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	1163	ABC transporter 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	p.N1163D(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	AGACTTACATTAGGCAGTGAC	0.493													23	178					0	0	0.014323	0	0	C	87138593	T	C	87138593	3	2	147	1	0	0	0	0	1	0	0	0	40	1754	61	3	367	3	ABCB1	7	87138593	Missense_Mutation	SNP	T	TCGA-G9-6496-01A-11D-1786-08	11108788	87138593	72000070	19	7014											
CUX1	1523	broad.mit.edu	37	chr7	101845118	101845118	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaaggccgaagaaacgggCggcgggaaagagaagggcag	14	0	19	8	4	0	2	0	0	0	2	0	5	0	3	2	5	1	1	2	5	5	0			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr7:101845118C>T	ENST00000360264.3	+	18	2594	c.2574C>T	c.(2572-2574)ggC>ggT	p.G858G	CUX1_ENST00000560541.1_Intron|CUX1_ENST00000556210.1_Silent_p.G689G|CUX1_ENST00000550008.2_Silent_p.G791G|CUX1_ENST00000549414.2_Silent_p.G825G|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000546411.2_Silent_p.G745G|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000292535.7_Silent_p.G847G|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000393824.3_Intron	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	847					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G847G(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						AAGAAACGGGCGGCGGGAAAG	0.687													5	75					0	0	0.014758	0	0	T	101845118	C	T	101845118	2	4	147	1	0	0	0	0	0	0	0	1	4087	755	27	1		1	CUX1	7	101845118	Silent	SNP	C	TCGA-G9-6496-01A-11D-1786-08	14706525	101845118	57293545	20	7015											
CTTNBP2	83992	broad.mit.edu	37	chr7	117386131	117386131	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttccttctgggccgtggaaaAtgacattatgatattgctca	10	14	9	8	1	2	2	1	2	1	0	3	3	3	3	2	2	1	1	2	2	4	5			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr7:117386131A>T	ENST00000160373.3	-	13	3462	c.3371T>A	c.(3370-3372)aTt>aAt	p.I1124N		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1124								p.I1124N(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GCCGTGGAAAATGACATTATG	0.398											OREG0003442	type=REGULATORY REGION|Gene=CTTNBP2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	24	47					0	0	0.01892	0	0	T	117386131	A	T	117386131	3	4	147	1	0	0	0	0	1	0	0	0	4069	101	4	5	1664	5	CTTNBP2	7	117386131	Missense_Mutation	SNP	A	TCGA-G9-6496-01A-11D-1786-08	15541013	117386131	41752532	21	7016											
SLC45A4	57210	broad.mit.edu	37	chr8	142222492	142222492	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcaggaagcccaggaaagagCccacagaggccaccatgggg	13	2	14	12	0	1	2	1	0	0	2	1	4	1	4	4	5	2	0	4	5	2	0			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr8:142222492C>T	ENST00000519067.1	-	7	2255	c.1952G>A	c.(1951-1953)gGc>gAc	p.G651D	SLC45A4_ENST00000517878.1_Missense_Mutation_p.G702D|SLC45A4_ENST00000433583.2_Missense_Mutation_p.G644D|SLC45A4_ENST00000024061.3_Missense_Mutation_p.G651D			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	702					transport	integral to membrane		p.G651D(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CAGGAAAGAGCCCACAGAGGC	0.627													18	37					0	0	0.010504	0	0	T	142222492	C	T	142222492	3	4	147	1	0	0	0	0	1	0	0	0	14698	739	26	2	452	2	SLC45A4	8	142222492	Missense_Mutation	SNP	C	TCGA-G9-6496-01A-11D-1786-08		142222492	4141530	22	7017											
BAI1	575	broad.mit.edu	37	chr8	143603449	143603449	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctccggaaccgcctcatcCgcaagcgcttcctctgcctg	6	8	8	19	4	2	0	1	0	1	0	5	1	5	1	7	1	3	2	7	1	2	1			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr8:143603449C>T	ENST00000517894.1	+	21	4042	c.3148C>T	c.(3148-3150)Cgc>Tgc	p.R1050C	BAI1_ENST00000323289.5_Missense_Mutation_p.R1050C			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1050					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	p.R1050C(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CCGCCTCATCCGCAAGCGCTT	0.652													10	30					0	0	0.010729	0	0	T	143603449	C	T	143603449	3	4	147	1	0	0	0	0	1	0	0	0	1296	652	23	1	3226	1	BAI1	8	143603449	Missense_Mutation	SNP	C	TCGA-G9-6496-01A-11D-1786-08	1380957	143603449	2760573	23	7018											
SLC27A4	10999	broad.mit.edu	37	chr9	131107632	131107632	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtagccaacttcctgcaggcCcggggcctggcctcgggcga	5	6	15	15	3	0	0	0	0	0	0	2	1	1	0	5	5	3	2	5	5	2	2			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr9:131107632C>G	ENST00000300456.3	+	3	477	c.360C>G	c.(358-360)gcC>gcG	p.A120A	SLC27A4_ENST00000372870.1_Intron	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4	120					long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding	p.A120A(1)		autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						TCCTGCAGGCCCGGGGCCTGG	0.622													16	29					0	0	0.004007	0	0	G	131107632	C	G	131107632	2	3	147	1	0	0	0	0	0	0	0	1	14583	610	22	4		4	SLC27A4	9	131107632	Silent	SNP	C	TCGA-G9-6496-01A-11D-1786-08		131107632	10105799	24	7019											
TET1	80312	broad.mit.edu	37	chr10	70446226	70446226	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagatgagtttggctccaaGgaaggaatggaagccaagat	15	7	13	6	0	0	3	0	1	0	2	1	6	1	6	2	4	1	2	2	4	5	1			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr10:70446226G>A	ENST00000373644.4	+	11	5375	c.5166G>A	c.(5164-5166)aaG>aaA	p.K1722K		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1722					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	p.K1722K(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TTGGCTCCAAGGAAGGAATGG	0.498													51	75					0	0	0.01441	0	0	A	70446226	G	A	70446226	2	1	147	1	0	0	0	0	0	0	0	1	15828	991	35	2		2	TET1	10	70446226	Silent	SNP	G	TCGA-G9-6496-01A-11D-1786-08		70446226	65088521	25	7020											
MKI67	4288	broad.mit.edu	37	chr10	129901213	129901213	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggttctactttaggggccCgaagaactcttctggatatt	8	13	11	9	2	3	1	0	0	3	1	3	3	3	2	1	4	2	1	1	4	5	7			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr10:129901213C>G	ENST00000368654.3	-	13	9266	c.8891G>C	c.(8890-8892)cGg>cCg	p.R2964P	MKI67_ENST00000368653.3_Missense_Mutation_p.R2604P	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2964					cell proliferation	nucleolus	ATP binding|protein C-terminus binding	p.R2964P(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTTAGGGGCCCGAAGAACTCT	0.493													58	133					0	0	0.01441	0	0	G	129901213	C	G	129901213	3	3	147	1	0	0	0	0	1	0	0	0	9646	652	23	4	891	4	MKI67	10	129901213	Missense_Mutation	SNP	C	TCGA-G9-6496-01A-11D-1786-08	59454987	129901213	5633534	26	7021											
OR51D1	390038	broad.mit.edu	37	chr11	4661689	4661690	+	Frame_Shift_Del	DEL	CT	CT	-																															ctctcagtcatgggtgtggaCtctctcttcattggcttctc																										TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr11:4661689_4661690delCT	ENST00000357605.2	+	1	745_746	c.669_670delCT	c.(667-672)gactfs	p.DS223fs		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGGTGTGGACTCTCTCTTCAT	0.495													40	76	---	---	---	---						-	4661690	CT	-	4661689	7	5	147	1	0	1	0	1	0	0	0	0	11141	564	20	0	671	0	OR51D1	11	4661689	Frame_Shift_Del	DEL	CT	TCGA-G9-6496-01A-11D-1786-08		4661689	130344827	27	7022											
TWF1	5756	broad.mit.edu	37	chr12	44189532	44189532	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcataaaggaagtctgcagtCaactcatccccattgtctat	12	12	6	11	0	5	0	3	0	2	0	6	1	6	1	2	1	2	1	2	1	5	3			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr12:44189532C>A	ENST00000395510.2	-	9	1038	c.909G>T	c.(907-909)ttG>ttT	p.L303F	TWF1_ENST00000552521.1_Missense_Mutation_p.L205F|TWF1_ENST00000548315.1_Missense_Mutation_p.L310F|TWF1_ENST00000325127.4_Missense_Mutation_p.L337F	NM_001242397.1|NM_002822.4	NP_001229326.1|NP_002813.3	Q12792	TWF1_HUMAN	twinfilin actin-binding protein 1	303	ADF-H 2.					actin cytoskeleton|cytoplasm	actin binding|protein tyrosine kinase activity	p.L303F(1)		endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|stomach(1)	14	all_cancers(12;0.00125)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.0474)		AGTCTGCAGTCAACTCATCCC	0.383													38	59					8.69298e-16	1.00656e-15	0.006999	1	0	A	44189532	C	A	44189532	3	1	147	1	0	0	0	0	1	0	0	0	16843	825	29	4	147	4	TWF1	12	44189532	Missense_Mutation	SNP	C	TCGA-G9-6496-01A-11D-1786-08		44189532	89662363	28	7023											
TPTE2	93492	broad.mit.edu	37	chr13	20049751	20049751	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaattgaatgcacaattttCttaatcttgctgctgcaaaa	14	14	5	8	0	2	1	0	1	2	0	2	1	2	1	0	0	4	4	0	0	6	5			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr13:20049751C>A	ENST00000400230.2	-	5	236	c.192G>T	c.(190-192)aaG>aaT	p.K64N	TPTE2_ENST00000382978.1_Missense_Mutation_p.K64N|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000382977.4_Missense_Mutation_p.K64N|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382975.4_Missense_Mutation_p.K64N|TPTE2_ENST00000400103.2_Intron			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	64						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.K64N(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		GCACAATTTTCTTAATCTTGC	0.299													20	33					2.27731e-05	2.50504e-05	0.012319	1	0	A	20049751	C	A	20049751	3	1	147	1	0	0	0	0	1	0	0	0	16492	912	32	4	1440	4	TPTE2	13	20049751	Missense_Mutation	SNP	C	TCGA-G9-6496-01A-11D-1786-08		20049751	95120127	29	7024											
PPP1R13B	23368	broad.mit.edu	37	chr14	104205266	104205268	+	In_Frame_Del	DEL	GAC	GAC	-																															gatcgaactctccttccagaGacgcgtctaggagcagtgcc																										TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr14:104205266_104205268delGAC	ENST00000202556.9	-	13	2967_2969	c.2685_2687delGTC	c.(2683-2688)gct>gc	p.AS895del	PPP1R13B_ENST00000555391.1_5'UTR|PPP1R13B_ENST00000423488.2_In_Frame_Del_p.AS314del	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	895					apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				TCCTTCCAGAGACGCGTCTAGGA	0.626													40	88	---	---	---	---						-	104205268	GAC	-	104205266	7	5	147	1	0	1	0	1	0	0	0	0	12406	942	33	0	605	0	PPP1R13B	14	104205266	In_Frame_Del	DEL	GAC	TCGA-G9-6496-01A-11D-1786-08		104205266	3144274	30	7025											
ZZEF1	23140	broad.mit.edu	37	chr17	3980274	3980274	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcatgcttgccagaaacTggcccacatctaccgaaaca	12	8	6	15	1	2	1	1	0	2	1	3	2	2	1	3	1	5	1	3	1	3	2			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr17:3980274T>G	ENST00000381638.2	-	20	3123	c.2999A>C	c.(2998-3000)cAg>cCg	p.Q1000P	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1000							calcium ion binding|zinc ion binding	p.Q1000P(1)		central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TGCCAGAAACTGGCCCACATC	0.363													18	40					0	0	0.00499	0	0	G	3980274	T	G	3980274	3	3	147	1	0	0	0	0	1	0	0	0	18295	1580	55	5	6030	5	ZZEF1	17	3980274	Missense_Mutation	SNP	T	TCGA-G9-6496-01A-11D-1786-08		3980274	77214936	31	7026											
ACAP1	9744	broad.mit.edu	37	chr17	7250419	7250419	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaatggccaggggaagggagCctgggggagtcgggcacgtg	8	4	22	7	2	0	0	0	0	0	0	1	4	0	3	2	7	1	1	2	7	2	0			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr17:7250419C>T	ENST00000158762.3	+	14	1407	c.1201C>T	c.(1201-1203)Cct>Tct	p.P401S		NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	401					intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding	p.P401S(1)		NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						GGGAAGGGAGCCTGGGGGAGT	0.677													7	40					0	0	0.001984	0	0	T	7250419	C	T	7250419	3	4	147	1	0	0	0	0	1	0	0	0	118	739	26	2	1255	2	ACAP1	17	7250419	Missense_Mutation	SNP	C	TCGA-G9-6496-01A-11D-1786-08	3270145	7250419	73944791	32	7027											
MUC16	94025	broad.mit.edu	37	chr19	9061392	9061392	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagttgatgtggaaacacttGtattccccagagtggaggtg	10	11	14	6	0	0	2	0	1	0	1	1	5	1	4	2	3	1	2	2	3	2	4			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr19:9061392G>C	ENST00000397910.4	-	3	26257	c.26054C>G	c.(26053-26055)aCa>aGa	p.T8685R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8687	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T8685R(2)|p.T4318R(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAAACACTTGTATTCCCCAG	0.458													35	45					0	0	0.017118	0	0	C	9061392	G	C	9061392	3	2	147	1	0	0	0	0	1	0	0	0	10021	1377	48	4	17797	4	MUC16	19	9061392	Missense_Mutation	SNP	G	TCGA-G9-6496-01A-11D-1786-08		9061392	50067591	33	7028											
MAP3K10	4294	broad.mit.edu	37	chr19	40698519	40698519	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtcgccgggtgccacctcAcgtgctggtcaactgggctg	5	8	15	13	3	2	0	2	0	0	0	3	0	2	0	3	4	3	2	3	4	1	0			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr19:40698519A>G	ENST00000253055.3	+	1	869	c.581A>G	c.(580-582)cAc>cGc	p.H194R	MAP3K10_ENST00000593906.1_Intron	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	194	Protein kinase.				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity	p.H194R(2)		NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GTGCCACCTCACGTGCTGGTC	0.642													10	17					0	0	0.010729	0	0	G	40698519	A	G	40698519	3	3	147	1	0	0	0	0	1	0	0	0	9294	159	6	3	583	3	MAP3K10	19	40698519	Missense_Mutation	SNP	A	TCGA-G9-6496-01A-11D-1786-08	31637127	40698519	18430464	34	7029											
C19orf47	126526	broad.mit.edu	37	chr19	40832339	40832339	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccatctcagcagtgaccCggcgccgcttggcaggaaca	8	6	11	16	3	1	1	1	1	1	0	3	2	2	2	4	3	2	3	4	3	1	1			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr19:40832339C>T	ENST00000582783.1	-	7	617	c.605G>A	c.(604-606)cGg>cAg	p.R202Q	C19orf47_ENST00000392035.2_Missense_Mutation_p.R135Q	NM_001256440.1	NP_001243369.1	Q8N9M1	CS047_HUMAN	chromosome 19 open reading frame 47	202								p.R135Q(1)		endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20			Lung(22;0.000636)			AGCAGTGACCCGGCGCCGCTT	0.627													11	26					0	0	0.010729	0	0	T	40832339	C	T	40832339	3	4	147	1	0	0	0	0	1	0	0	0	1942	652	23	1	675	1	C19orf47	19	40832339	Missense_Mutation	SNP	C	TCGA-G9-6496-01A-11D-1786-08	133820	40832339	18296644	35	7030											
SIRPB1	10326	broad.mit.edu	37	chr20	1600530	1600530	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcacctgtgagtctccccaGcagtagcgtcatcagcagga	9	8	10	14	1	4	1	3	1	1	0	5	2	4	2	3	1	3	3	3	1	1	1			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr20:1600530G>A	ENST00000381605.4	-	1	125	c.61C>T	c.(61-63)Ctg>Ttg	p.L21L	SIRPB1_ENST00000381603.3_Silent_p.L21L|RP4-576H24.4_ENST00000564763.1_Silent_p.L21L|SIRPB1_ENST00000279477.7_Silent_p.L21L|SIRPB1_ENST00000381596.1_5'UTR|SIRPB1_ENST00000568365.1_Silent_p.L21L	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	21					cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	p.L21L(1)		central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						AGTCTCCCCAGCAGTAGCGTC	0.562													28	41					0	0	0.007291	0	0	A	1600530	G	A	1600530	2	1	147	1	0	0	0	0	0	0	0	1	14388	962	34	2		2	SIRPB1	20	1600530	Silent	SNP	G	TCGA-G9-6496-01A-11D-1786-08		1600530	61424990	36	7031											
ATRX	546	broad.mit.edu	37	chrX	76891438	76891438	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggtttcaatttgataaccAtatttctatgaacctgcact	11	15	7	8	0	2	2	1	2	1	0	2	2	2	2	2	2	3	2	2	2	5	6			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chrX:76891438A>G	ENST00000373344.5	-	16	4881	c.4667T>C	c.(4666-4668)aTg>aCg	p.M1556T	ATRX_ENST00000395603.3_Missense_Mutation_p.M1518T|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1556					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.M1556T(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTTGATAACCATATTTCTATG	0.338			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						18	5					0	0	0.00499	0	0	G	76891438	A	G	76891438	3	3	147	1	0	0	0	0	1	0	0	0	1206	217	8	3	2891	3	ATRX	23	76891438	Missense_Mutation	SNP	A	TCGA-G9-6496-01A-11D-1786-08		76891438	78379122	37	7032											
GLIS1	148979	broad.mit.edu	37	chr1	53990499	53990499	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatgggccttgacgtgcttgCggagggagctggggtctgtg	5	10	19	7	2	1	1	0	1	1	0	1	3	1	3	1	5	3	2	1	5	1	2			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr1:53990499C>T	ENST00000312233.2	-	5	1585	c.1019G>A	c.(1018-1020)cGc>cAc	p.R340H		NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	340					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						GACGTGCTTGCGGAGGGAGCT	0.637													4	172					0	0	1	0	0	T	53990499	C	T	53990499	3	4	148	1	0	0	0	0	1	0	0	0	6487	768	27	1	867	1	GLIS1	1	53990499	Missense_Mutation	SNP	C	TCGA-G9-6498-01A-12D-A30X-08		53990499	195260122	1	7033											
USH2A	7399	broad.mit.edu	37	chr1	215960060	215960060	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtatgaatggtttcttcggCagatgaacacatttcttcaa	11	15	8	7	1	3	3	1	2	2	1	4	3	3	3	0	2	1	3	0	2	4	5			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr1:215960060C>A	ENST00000366943.2	-	52	10725	c.10339G>T	c.(10339-10341)Gcc>Tcc	p.A3447S	USH2A_ENST00000307340.3_Missense_Mutation_p.A3447S			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3447	Fibronectin type-III 19.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTTTCTTCGGCAGATGAACAC	0.453										HNSCC(13;0.011)			5	76					1.23904e-05	1.23904e-05	1	1	0	A	215960060	C	A	215960060	3	1	148	1	0	0	0	0	1	0	0	0	17096	710	25	4	5353	4	USH2A	1	215960060	Missense_Mutation	SNP	C	TCGA-G9-6498-01A-12D-A30X-08	161969561	215960060	33290561	2	7034											
LANCL1	10314	broad.mit.edu	37	chr2	211341083	211341083	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttcggccagggatttgttaTaatcagcataaggattcggg	10	12	12	7	2	1	0	1	0	0	0	3	2	1	2	1	4	1	2	1	4	3	6			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr2:211341083T>C	ENST00000443314.1	-	1	380	c.38A>G	c.(37-39)tAt>tGt	p.Y13C	LANCL1_ENST00000233714.4_Missense_Mutation_p.Y13C|LANCL1_ENST00000431941.2_Missense_Mutation_p.Y13C|LANCL1_ENST00000441020.3_Missense_Mutation_p.Y13C|LANCL1_ENST00000450366.2_Missense_Mutation_p.Y13C			O43813	LANC1_HUMAN	LanC lantibiotic synthetase component C-like 1 (bacterial)	13						cytoplasm|integral to plasma membrane|microtubule cytoskeleton|nucleus	catalytic activity|G-protein coupled receptor activity|glutathione binding|low-density lipoprotein particle receptor binding|SH3 domain binding|zinc ion binding			breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12				Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)		GGATTTGTTATAATCAGCATA	0.542													15	35					0	0	1	0	0	C	211341083	T	C	211341083	3	2	148	1	0	0	0	0	1	0	0	0	8659	1406	49	3	1197	3	LANCL1	2	211341083	Missense_Mutation	SNP	T	TCGA-G9-6498-01A-12D-A30X-08		211341083	31858290	3	7035											
PIK3CB	5291	broad.mit.edu	37	chr3	138426080	138426080	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagctgttgcattttcagtaTatggatttgtttgaacagtt	10	18	9	4	0	1	1	1	1	0	0	1	2	1	2	0	1	3	6	0	1	4	8			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr3:138426080T>C	ENST00000477593.1	-	10	1524	c.1451A>G	c.(1450-1452)tAt>tGt	p.Y484C	PIK3CB_ENST00000289153.2_Missense_Mutation_p.Y484C|PIK3CB_ENST00000544716.1_Intron			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	484					activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						ATTTTCAGTATATGGATTTGT	0.299													7	25					0	0	1	0	0	C	138426080	T	C	138426080	3	2	148	1	0	0	0	0	1	0	0	0	11962	1406	49	3	1815	3	PIK3CB	3	138426080	Missense_Mutation	SNP	T	TCGA-G9-6498-01A-12D-A30X-08		138426080	59596350	4	7036											
RGS12	6002	broad.mit.edu	37	chr4	3319513	3319513	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcaaccagcgctggctccCggtccacgtgctccgggagt	5	9	12	15	4	1	0	1	0	0	0	4	1	4	1	4	3	3	3	4	3	1	1			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr4:3319513C>T	ENST00000336727.3	+	2	2520	c.1616C>T	c.(1615-1617)cCg>cTg	p.P539L	RGS12_ENST00000382788.3_Missense_Mutation_p.P539L|RGS12_ENST00000344733.5_Missense_Mutation_p.P539L|RGS12_ENST00000543385.1_Missense_Mutation_p.P539L	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	539						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CGCTGGCTCCCGGTCCACGTG	0.637													10	41					0	0	1	0	0	T	3319513	C	T	3319513	3	4	148	1	0	0	0	0	1	0	0	0	13345	652	23	1	1618	1	RGS12	4	3319513	Missense_Mutation	SNP	C	TCGA-G9-6498-01A-12D-A30X-08		3319513	187834763	5	7037											
PCDHA2	0	broad.mit.edu	37	chr5	140176001	140176001	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcagcgtgggatgcggacgcGcaggagaacgcgctggtgtc	7	6	18	10	6	1	1	1	0	0	1	2	4	1	3	0	4	3	2	0	4	1	0			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr5:140176001G>A	ENST00000526136.1	+	1	1452	c.1452G>A	c.(1450-1452)gcG>gcA	p.A484A	PCDHA2_ENST00000520672.2_Silent_p.A484A|PCDHA2_ENST00000378132.1_Silent_p.A484A|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCGGACGCGCAGGAGAACG	0.657													20	96					0	0	1	0	0	A	140176001	G	A	140176001	2	1	148	1	0	0	0	0	0	0	0	1	11571	1074	38	1		1	PCDHA2	5	140176001	Silent	SNP	G	TCGA-G9-6498-01A-12D-A30X-08		140176001	40739259	6	7038											
TRIM40	135644	broad.mit.edu	37	chr6	30104886	30104886	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagagcctgaaggaggccGtgagcaccaactgcggacat	12	4	15	10	2	0	3	0	2	0	1	0	6	0	5	3	4	4	1	3	4	2	0			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr6:30104886G>A	ENST00000396581.1	+	2	459	c.73G>A	c.(73-75)Gtg>Atg	p.V25M	TRIM40_ENST00000489892.1_3'UTR|TRIM40_ENST00000376724.2_Missense_Mutation_p.V25M|TRIM40_ENST00000307859.4_Missense_Mutation_p.V25M			Q6P9F5	TRI40_HUMAN	tripartite motif containing 40	25						intracellular	zinc ion binding			ovary(1)	1						GAAGGAGGCCGTGAGCACCAA	0.607													19	49					0	0	1	0	0	A	30104886	G	A	30104886	3	1	148	1	0	0	0	0	1	0	0	0	16576	1145	40	1	75	1	TRIM40	6	30104886	Missense_Mutation	SNP	G	TCGA-G9-6498-01A-12D-A30X-08		30104886	141010181	7	7039											
GJA1	2697	broad.mit.edu	37	chr6	121768604	121768604	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtttcctctctcgccccaCggagaaaaccatcttcatca	9	11	5	16	2	4	1	2	0	2	1	7	2	5	1	4	1	1	1	4	1	2	2			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr6:121768604C>T	ENST00000282561.3	+	2	768	c.611C>T	c.(610-612)aCg>aTg	p.T204M		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	204			T -> M (in dbSNP:rs2228965).		cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	TCTCGCCCCACGGAGAAAACC	0.473													11	139					0	0	1	0	0	T	121768604	C	T	121768604	3	4	148	1	0	0	0	0	1	0	0	0	6442	536	19	1	613	1	GJA1	6	121768604	Missense_Mutation	SNP	C	TCGA-G9-6498-01A-12D-A30X-08	91663718	121768604	49346463	8	7040											
MAP3K5	4217	broad.mit.edu	37	chr6	136913365	136913365	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgtcttggtcttccgtcagGatcctgtgaagggtagctcg	5	14	13	9	2	3	1	1	1	2	0	6	2	5	2	2	3	1	2	2	3	2	4			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr6:136913365G>T	ENST00000359015.4	-	23	3531	c.3171C>A	c.(3169-3171)atC>atA	p.I1057I	MAP3K5_ENST00000355845.4_Silent_p.I304I	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	1057					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		CTTCCGTCAGGATCCTGTGAA	0.438													46	105					4.18559e-23	4.3849e-23	1	1	0	T	136913365	G	T	136913365	2	4	148	1	0	0	0	0	0	0	0	1	9303	1164	41	4		4	MAP3K5	6	136913365	Silent	SNP	G	TCGA-G9-6498-01A-12D-A30X-08	15144761	136913365	34201702	9	7041											
AQP1	358	broad.mit.edu	37	chr7	30961798	30961799	+	Frame_Shift_Ins	INS	-	-	C																															ccgtgaccttggtggctcagINSccccccttgccatcggcctc																										TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr7:30961798_30961799insC	ENST00000311813.4	+	2	557_558	c.502_503insC	c.(502-504)cccfs	p.P168fs	AQP1_ENST00000409611.1_Frame_Shift_Ins_p.P117fs|AQP1_ENST00000509504.1_Frame_Shift_Ins_p.P345fs|AQP1_ENST00000441328.2_Frame_Shift_Ins_p.P85fs|AQP1_ENST00000409899.1_Frame_Shift_Ins_p.P53fs|AQP1_ENST00000434909.2_Frame_Shift_Ins_p.P228fs|AQP1_ENST00000482461.1_3'UTR	NM_198098.2	NP_932766.1			aquaporin 1											kidney(1)|large_intestine(2)|lung(9)	12		Melanoma(862;0.16)				TGGTGGCTCAGCCCCCCTTGCC	0.683													26	48	---	---	---	---						C	30961799	-	C	30961798	7	5	148	1	0	1	1	0	0	0	0	0	818	971	34	0	765	0	AQP1	7	30961798	Frame_Shift_Ins	INS	-	TCGA-G9-6498-01A-12D-A30X-08		30961798	128176865	10	7042											
BRAF	673	broad.mit.edu	37	chr7	140481402	140481402	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	actttcccttgtagactgttCcaaatgatccagatccaatt	11	14	5	11	0	0	3	0	1	0	2	4	3	4	3	4	0	0	2	4	0	3	5	rs121913358		TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr7:140481402C>G	ENST00000288602.6	-	11	1466	c.1406G>C	c.(1405-1407)gGa>gCa	p.G469A		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	469	Protein kinase.		G -> A (in NHL; also in a lung adenocarcinoma sample; somatic mutation; elevated kinase activity; efficiently induces cell transformation).|G -> E (in CFC syndrome and colon cancer).|G -> R (in NHL).|G -> V (in a colorectal adenocarcinoma sample; somatic mutation).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.G469A(19)|p.G469V(13)|p.G469S(5)|p.G469E(5)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	GTAGACTGTTCCAAATGATCC	0.373	G469A(NCIH1395_LUNG)|G469A(NCIH1755_LUNG)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				10	97					0	0	1	0	0	G	140481402	C	G	140481402	3	3	148	1	0	0	0	0	1	0	0	0	1498	855	30	4	926	4	BRAF	7	140481402	Missense_Mutation	SNP	C	TCGA-G9-6498-01A-12D-A30X-08	109519604	140481402	18657261	11	7043											
RBP3	5949	broad.mit.edu	37	chr10	48389894	48389894	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcctggaggcagtggactacCcctggaagggcgctgcgcag	7	6	16	12	2	0	0	0	0	0	0	1	3	1	3	3	5	2	3	3	5	2	1	rs145181839	byFrequency	TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr10:48389894C>G	ENST00000224600.4	-	1	1097	c.984G>C	c.(982-984)ggG>ggC	p.G328G		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	328	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	AGTGGACTACCCCTGGAAGGG	0.672													8	31					0	0	1	0	0	G	48389894	C	G	48389894	2	3	148	1	0	0	0	0	0	0	0	1	13209	610	22	4		4	RBP3	10	48389894	Silent	SNP	C	TCGA-G9-6498-01A-12D-A30X-08		48389894	87144853	12	7044											
C10orf71	118461	broad.mit.edu	37	chr10	50530906	50530906	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccaacagctacccaagtacGttcagggagaggaaaagtac	15	6	10	10	1	1	1	1	0	0	1	2	3	2	2	2	2	5	4	2	2	7	4			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr10:50530906G>A	ENST00000374144.3	+	3	604	c.316G>A	c.(316-318)Gtt>Att	p.V106I	C10orf71_ENST00000323868.4_Missense_Mutation_p.V106I			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	106										endometrium(1)	1						ACCCAAGTACGTTCAGGGAGA	0.592													8	119					0	0	1	0	0	A	50530906	G	A	50530906	3	1	148	1	0	0	0	0	1	0	0	0	1618	1145	40	1	318	1	C10orf71	10	50530906	Missense_Mutation	SNP	G	TCGA-G9-6498-01A-12D-A30X-08	2141012	50530906	85003841	13	7045											
WDR11	55717	broad.mit.edu	37	chr10	122646216	122646219	+	Frame_Shift_Del	DEL	AGAA	AGAA	-																															caaagcttgctgcaggaggcAgaaagtaaatctgaacttag																										TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr10:122646216_122646219delAGAA	ENST00000263461.6	+	16	2235_2238	c.1989_1992delAGAA	c.(1987-1992)gcfs	p.AE663fs	WDR11_ENST00000604509.1_3'UTR	NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN	WD repeat domain 11	663						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						TGCAGGAGGCAGAAAGTAAATCTG	0.382													7	34	---	---	---	---						-	122646219	AGAA	-	122646216	7	5	148	1	0	1	0	1	0	0	0	0	17333	175	7	0	2051	0	WDR11	10	122646216	Frame_Shift_Del	DEL	AGAA	TCGA-G9-6498-01A-12D-A30X-08	72115310	122646216	12888531	14	7046											
HTRA1	5654	broad.mit.edu	37	chr10	124273783	124273783	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgccaatgatgtcagcgacGtcattaaaagggaaagcacc	14	6	10	11	3	2	1	2	1	0	0	2	3	2	2	3	1	2	1	3	1	4	1	rs149822364	byFrequency	TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr10:124273783G>A	ENST00000368984.3	+	9	1479	c.1351G>A	c.(1351-1353)Gtc>Atc	p.V451I		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	451	PDZ.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				TGTCAGCGACGTCATTAAAAG	0.483													51	140					0	0	1	0	0	A	124273783	G	A	124273783	3	1	148	1	0	0	0	0	1	0	0	0	7497	1145	40	1	1385	1	HTRA1	10	124273783	Missense_Mutation	SNP	G	TCGA-G9-6498-01A-12D-A30X-08	1627567	124273783	11260964	15	7047											
RRM1	6240	broad.mit.edu	37	chr11	4130909	4130909	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attatctatgaccgagatttCtcttacaattacttcggctt	10	17	5	9	2	2	2	0	1	2	1	4	3	2	2	1	1	2	1	1	1	5	7			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr11:4130909C>T	ENST00000300738.5	+	5	627	c.423C>T	c.(421-423)ttC>ttT	p.F141F	RRM1_ENST00000423050.2_Silent_p.F44F	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	141					deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	ACCGAGATTTCTCTTACAATT	0.294													8	26					0	0	1	0	0	T	4130909	C	T	4130909	2	4	148	1	0	0	0	0	0	0	0	1	13733	912	32	2		2	RRM1	11	4130909	Silent	SNP	C	TCGA-G9-6498-01A-12D-A30X-08		4130909	130875607	16	7048											
PIK3C2A	5286	broad.mit.edu	37	chr11	17190738	17190738	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccggaagacttaaatatataGgttctgtagatggaaaagtg	15	11	11	4	1	1	2	0	0	1	2	1	4	1	4	1	3	0	2	1	3	9	6			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr11:17190738G>A	ENST00000265970.7	-	1	550	c.551C>T	c.(550-552)cCt>cTt	p.P184L	PIK3C2A_ENST00000540361.1_Intron|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	184					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	TAAATATATAGGTTCTGTAGA	0.398													25	60					0	0	1	0	0	A	17190738	G	A	17190738	3	1	148	1	0	0	0	0	1	0	0	0	11957	1000	35	2	4637	2	PIK3C2A	11	17190738	Missense_Mutation	SNP	G	TCGA-G9-6498-01A-12D-A30X-08	13059829	17190738	117815778	17	7049											
ARFGAP2	84364	broad.mit.edu	37	chr11	47198145	47198145	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaaaacaccgtacgtgatgCtggcccaactcggattcttg	11	9	10	11	3	1	2	0	1	1	1	2	3	1	3	2	2	4	2	2	2	4	3			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr11:47198145C>T	ENST00000524782.1	-	2	341	c.113G>A	c.(112-114)aGc>aAc	p.S38N	ARFGAP2_ENST00000319543.6_5'UTR|ARFGAP2_ENST00000426335.2_Missense_Mutation_p.S38N|ARFGAP2_ENST00000395449.3_5'UTR|ARFGAP2_ENST00000419701.2_5'UTR	NM_001242832.1|NM_032389.4	NP_001229761.1|NP_115765.2	Q8N6H7	ARFG2_HUMAN	ADP-ribosylation factor GTPase activating protein 2	38	Arf-GAP.				protein transport|regulation of ARF GTPase activity|vesicle-mediated transport	Golgi membrane|nucleolus|plasma membrane	ARF GTPase activator activity|zinc ion binding	p.S38N(1)		breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						GTACGTGATGCTGGCCCAACT	0.632													10	81					0	0	1	0	0	T	47198145	C	T	47198145	3	4	148	1	0	0	0	0	1	0	0	0	847	797	28	2	1512	2	ARFGAP2	11	47198145	Missense_Mutation	SNP	C	TCGA-G9-6498-01A-12D-A30X-08	30007407	47198145	87808371	18	7050											
OR4C46	119749	broad.mit.edu	37	chr11	51515372	51515372	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatatttgttgtgttttttGtcatctatatcatcactgtg	7	22	6	6	0	5	0	4	0	1	0	5	0	5	0	0	0	0	2	0	0	3	8			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr11:51515372G>A	ENST00000328188.1	+	1	91	c.91G>A	c.(91-93)Gtc>Atc	p.V31I		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						TGTGTTTTTTGTCATCTATAT	0.433													24	122					0	0	1	0	0	A	51515372	G	A	51515372	3	1	148	1	0	0	0	0	1	0	0	0	11099	1377	48	2	93	2	OR4C46	11	51515372	Missense_Mutation	SNP	G	TCGA-G9-6498-01A-12D-A30X-08	4317227	51515372	83491144	19	7051											
C11orf30	56946	broad.mit.edu	37	chr11	76247049	76247049	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaggatgtatccagtgaaTcacaatcagctacttcaaca	15	10	6	10	0	4	1	4	1	0	0	5	2	5	2	1	1	3	2	1	1	5	3			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr11:76247049T>G	ENST00000529032.1	+	14	2305	c.2305T>G	c.(2305-2307)Tca>Gca	p.S769A	C11orf30_ENST00000525038.1_Missense_Mutation_p.S784A|C11orf30_ENST00000334736.3_Missense_Mutation_p.S769A|C11orf30_ENST00000525919.1_Missense_Mutation_p.S770A|C11orf30_ENST00000343878.3_Missense_Mutation_p.S769A|C11orf30_ENST00000524490.1_Missense_Mutation_p.S685A|C11orf30_ENST00000533248.1_Intron|C11orf30_ENST00000524767.1_Missense_Mutation_p.S784A			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	769					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						ATCCAGTGAATCACAATCAGC	0.403													7	12					0	0	1	0	0	G	76247049	T	G	76247049	3	3	148	1	0	0	0	0	1	0	0	0	1641	1435	50	5	2359	5	C11orf30	11	76247049	Missense_Mutation	SNP	T	TCGA-G9-6498-01A-12D-A30X-08	24731677	76247049	58759467	20	7052											
OR8D4	338662	broad.mit.edu	37	chr11	123777442	123777442	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctggatgcatgattcagctgTtttttttctgtgtttgtgtt	4	22	10	5	0	2	1	1	1	1	0	2	2	2	2	0	1	2	5	0	1	0	7	rs79561639	byFrequency	TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr11:123777442T>C	ENST00000321355.2	+	1	334	c.304T>C	c.(304-306)Ttt>Ctt	p.F102L		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		GATTCAGCTGTTTTTTTTCTG	0.438													5	207					0	0	1	0	0	C	123777442	T	C	123777442	3	2	148	1	0	0	0	0	1	0	0	0	11280	1725	60	3	306	3	OR8D4	11	123777442	Missense_Mutation	SNP	T	TCGA-G9-6498-01A-12D-A30X-08	47530393	123777442	11229074	21	7053			1	17		2	2	22	N	T_A	2.238581e-05
OR8D4	338662	broad.mit.edu	37	chr11	123777463	123777463	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttttttctgtgtttgtgttAtttctgaatgctacatgctg	5	23	8	5	0	2	1	0	1	2	0	2	1	2	1	0	0	3	4	0	0	3	7			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr11:123777463A>C	ENST00000321355.2	+	1	355	c.325A>C	c.(325-327)Att>Ctt	p.I109L		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TGTTTGTGTTATTTCTGAATG	0.468													4	180					0	0	1	0	0	C	123777463	A	C	123777463	3	2	148	1	0	0	0	0	1	0	0	0	11280	449	16	5	327	5	OR8D4	11	123777463	Missense_Mutation	SNP	A	TCGA-G9-6498-01A-12D-A30X-08	21	123777463	11229053	22	7054			1	17		2	2	22	N	T_A	2.238581e-05
OR4D5	219875	broad.mit.edu	37	chr11	123810394	123810394	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctcaggtttgggagcttcGgtttgttttcttcactgttt	3	20	10	8	1	3	0	2	0	2	0	5	1	3	1	0	3	1	5	0	3	0	7			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr11:123810394G>A	ENST00000307033.2	+	1	145	c.71G>A	c.(70-72)cGg>cAg	p.R24Q		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TGGGAGCTTCGGTTTGTTTTC	0.463													13	67					0	0	1	0	0	A	123810394	G	A	123810394	3	1	148	1	0	0	0	0	1	0	0	0	11105	1116	39	1	73	1	OR4D5	11	123810394	Missense_Mutation	SNP	G	TCGA-G9-6498-01A-12D-A30X-08	32931	123810394	11196122	23	7055											
ETNK1	55500	broad.mit.edu	37	chr12	22796887	22796887	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctactgtaccttcaataatgGactatgctatgaatttatac	13	15	5	8	0	1	1	1	1	0	0	1	2	1	2	1	1	4	2	1	1	9	9			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr12:22796887G>A	ENST00000266517.4	+	2	703	c.614G>A	c.(613-615)gGa>gAa	p.G205E	ETNK1_ENST00000335148.3_Missense_Mutation_p.G205E	NM_018638.4	NP_061108.2	Q9HBU6	EKI1_HUMAN	ethanolamine kinase 1	205					phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|ethanolamine kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TTCAATAATGGACTATGCTAT	0.403													26	106					0	0	1	0	0	A	22796887	G	A	22796887	3	1	148	1	0	0	0	0	1	0	0	0	5301	1174	41	2	620	2	ETNK1	12	22796887	Missense_Mutation	SNP	G	TCGA-G9-6498-01A-12D-A30X-08		22796887	111055008	24	7056											
FOXG1	2290	broad.mit.edu	37	chr14	29237113	29237113	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgctcaacggcatctacgagTtcatcatgaagaacttccct	11	10	7	13	3	4	2	3	1	1	1	5	3	5	2	1	1	3	3	1	1	4	3			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr14:29237113T>C	ENST00000382535.3	+	2	997	c.628T>C	c.(628-630)Ttc>Ctc	p.F210L	FOXG1_ENST00000313071.4_Missense_Mutation_p.F210L			P55316	FOXG1_HUMAN	forkhead box G1	210					axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		CATCTACGAGTTCATCATGAA	0.572													14	47					0	0	1	0	0	C	29237113	T	C	29237113	3	2	148	1	0	0	0	0	1	0	0	0	6041	1725	60	3	630	3	FOXG1	14	29237113	Missense_Mutation	SNP	T	TCGA-G9-6498-01A-12D-A30X-08		29237113	78112427	25	7057											
SMOC1	64093	broad.mit.edu	37	chr14	70477514	70477514	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagaggcagagtgccctggaAgaggcccagcagaatccccg	11	3	15	12	1	0	4	0	0	0	4	1	6	1	5	4	3	2	2	4	3	2	0			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr14:70477514A>G	ENST00000381280.4	+	8	961	c.708A>G	c.(706-708)gaA>gaG	p.E236E	SMOC1_ENST00000361956.3_Silent_p.E236E	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	236	Thyroglobulin type-1 2.				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		GTGCCCTGGAAGAGGCCCAGC	0.537													39	111					0	0	1	0	0	G	70477514	A	G	70477514	2	3	148	1	0	0	0	0	0	0	0	1	14855	69	3	3		3	SMOC1	14	70477514	Silent	SNP	A	TCGA-G9-6498-01A-12D-A30X-08	41240401	70477514	36872026	26	7058											
EEF2K	29904	broad.mit.edu	37	chr16	22268698	22268698	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggcactgactttggagacgGcaacctaggtacgtggggaa	10	7	16	8	2	0	2	0	1	0	1	0	4	0	3	1	6	2	3	1	6	4	3			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr16:22268698G>A	ENST00000263026.5	+	8	1367	c.893G>A	c.(892-894)gGc>gAc	p.G298D		NM_013302.3	NP_037434.1	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	298	Alpha-type protein kinase.				insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		TTTGGAGACGGCAACCTAGGT	0.557													4	100					0	0	1	0	0	A	22268698	G	A	22268698	3	1	148	1	0	0	0	0	1	0	0	0	4956	1203	42	2	919	2	EEF2K	16	22268698	Missense_Mutation	SNP	G	TCGA-G9-6498-01A-12D-A30X-08		22268698	68086055	27	7059											
ABCC12	94160	broad.mit.edu	37	chr16	48139193	48139193	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cacatgctgaccgatgtctgCcagcaccgcgccgacctcac	8	6	9	18	4	2	1	1	1	1	0	2	3	2	1	5	0	3	2	5	0	0	0			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr16:48139193C>T	ENST00000311303.3	-	19	2875	c.2530G>A	c.(2530-2532)Gca>Aca	p.A844T	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_Missense_Mutation_p.A841T	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	844	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CCGATGTCTGCCAGCACCGCG	0.532													12	15					0	0	1	0	0	T	48139193	C	T	48139193	3	4	148	1	0	0	0	0	1	0	0	0	52	739	26	2	1593	2	ABCC12	16	48139193	Missense_Mutation	SNP	C	TCGA-G9-6498-01A-12D-A30X-08	25870495	48139193	42215560	28	7060											
CACNA1G	8913	broad.mit.edu	37	chr17	48685232	48685232	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgctgctgtacttcatctcGttcctgctcattgtggcctt	4	17	8	12	1	3	0	2	0	1	0	5	0	4	0	2	1	4	5	2	1	1	5			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr17:48685232G>A	ENST00000352832.5	+	24	4860	c.4488G>A	c.(4486-4488)tcG>tcA	p.S1496S	CACNA1G_ENST00000507510.2_Silent_p.S1519S|CACNA1G_ENST00000359106.5_Silent_p.S1519S|CACNA1G_ENST00000510366.1_Intron|CACNA1G_ENST00000442258.2_Silent_p.S1496S|CACNA1G_ENST00000510115.1_Silent_p.S1496S|CACNA1G_ENST00000507896.1_Silent_p.S1519S|CACNA1G_ENST00000515411.1_Silent_p.S1519S|CACNA1G_ENST00000515165.1_Silent_p.S1519S|CACNA1G_ENST00000514717.1_Intron|CACNA1G_ENST00000503485.1_Intron|CACNA1G_ENST00000505165.1_Silent_p.S1519S|CACNA1G_ENST00000507336.1_Silent_p.S1519S|CACNA1G_ENST00000514079.1_Silent_p.S1519S|CACNA1G_ENST00000360761.4_Silent_p.S1496S|CACNA1G_ENST00000429973.2_Silent_p.S1519S|CACNA1G_ENST00000515765.1_Silent_p.S1519S|CACNA1G_ENST00000514181.1_Silent_p.S1519S|CACNA1G_ENST00000513964.1_Intron|CACNA1G_ENST00000507609.1_Silent_p.S1519S|CACNA1G_ENST00000358244.5_Silent_p.S1496S|CACNA1G_ENST00000513689.2_Intron|CACNA1G_ENST00000354983.4_Silent_p.S1496S|CACNA1G_ENST00000512389.1_Silent_p.S1519S|CACNA1G_ENST00000502264.1_Silent_p.S1496S	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1519					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	ACTTCATCTCGTTCCTGCTCA	0.577													12	81					0	0	1	0	0	A	48685232	G	A	48685232	2	1	148	1	0	0	0	0	0	0	0	1	2562	1132	40	1		1	CACNA1G	17	48685232	Silent	SNP	G	TCGA-G9-6498-01A-12D-A30X-08		48685232	32509978	29	7061											
SLC16A6	9120	broad.mit.edu	37	chr17	66267712	66267712	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgggtctgagcagtgctcCgaagatgacaatgtttaact	11	11	12	7	1	1	3	0	2	1	1	2	5	2	3	1	1	3	3	1	1	3	2			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr17:66267712C>T	ENST00000327268.4	-	6	753	c.589G>A	c.(589-591)Gga>Aga	p.G197R	ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Missense_Mutation_p.G197R	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	197						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	AGCAGTGCTCCGAAGATGACA	0.473													4	64					0	0	1	0	0	T	66267712	C	T	66267712	3	4	148	1	0	0	0	0	1	0	0	0	14467	661	23	1	990	1	SLC16A6	17	66267712	Missense_Mutation	SNP	C	TCGA-G9-6498-01A-12D-A30X-08	17582480	66267712	14927498	30	7062											
CLEC11A	6320	broad.mit.edu	37	chr19	51227212	51227212	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaggggggatgagaatccTgccggaactgttgagggaaa	11	6	19	5	1	0	2	0	2	0	1	1	7	1	6	2	6	2	1	2	6	3	1			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr19:51227212T>G	ENST00000250340.4	+	2	395	c.198T>G	c.(196-198)ccT>ccG	p.P66P	CLEC11A_ENST00000599973.1_Silent_p.P66P	NM_002975.2	NP_002966.1	Q9Y240	CLC11_HUMAN	C-type lectin domain family 11, member A	66					positive regulation of cell proliferation	cytoplasm|extracellular region	growth factor activity|sugar binding			kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	7		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		ATGAGAATCCTGCCGGAACTG	0.652											OREG0025643	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	24					0	0	1	0	0	G	51227212	T	G	51227212	2	3	148	1	0	0	0	0	0	0	0	1	3519	1567	55	5		5	CLEC11A	19	51227212	Silent	SNP	T	TCGA-G9-6498-01A-12D-A30X-08		51227212	7901771	31	7063											
KLK5	25818	broad.mit.edu	37	chr19	51451965	51451965	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctatctgtctcgggtaagcAtcctcgcaccttttctgact	6	15	7	13	2	4	1	0	1	4	0	7	1	5	1	2	1	1	3	2	1	2	4			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr19:51451965A>G	ENST00000336334.3	-	5	1009	c.657T>C	c.(655-657)gaT>gaC	p.D219D	KLK5_ENST00000593428.1_Silent_p.D219D|KLK5_ENST00000391809.2_Silent_p.D219D	NM_012427.4	NP_036559.1	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	219	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		TCGGGTAAGCATCCTCGCACC	0.493													8	54					0	0	1	0	0	G	51451965	A	G	51451965	2	3	148	1	0	0	0	0	0	0	0	1	8450	214	8	3		3	KLK5	19	51451965	Silent	SNP	A	TCGA-G9-6498-01A-12D-A30X-08	224753	51451965	7677018	32	7064											
PTPRT	11122	broad.mit.edu	37	chr20	40827928	40827928	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagaagccttcatcattgcGgctggcgctgagcttggtgg	7	10	15	9	2	2	2	2	1	0	1	2	3	2	2	1	4	3	3	1	4	1	3			TCGA-G9-6498-01A-12D-A30X-08	TCGA-G9-6498-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e807a5d4-8642-4757-a1e6-9fc58e6f5d65	e3e7e02b-0f70-4574-8d1c-63fd5b15d3bd	g.chr20:40827928G>A	ENST00000373198.3	-	17	2744	c.2509C>T	c.(2509-2511)Cgc>Tgc	p.R837C	PTPRT_ENST00000373201.1_Missense_Mutation_p.R805C|PTPRT_ENST00000356100.2_Missense_Mutation_p.R824C|PTPRT_ENST00000373193.3_Missense_Mutation_p.R818C|PTPRT_ENST00000373187.1_Missense_Mutation_p.R815C|PTPRT_ENST00000373190.1_Missense_Mutation_p.R815C|PTPRT_ENST00000373184.1_Missense_Mutation_p.R805C	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	815					homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TCATCATTGCGGCTGGCGCTG	0.582													7	424					0	0	1	0	0	A	40827928	G	A	40827928	3	1	148	1	0	0	0	0	1	0	0	0	12864	1116	39	1	1946	1	PTPRT	20	40827928	Missense_Mutation	SNP	G	TCGA-G9-6498-01A-12D-A30X-08		40827928	22197592	33	7065											
SLC44A5	204962	broad.mit.edu	37	chr1	75708580	75708580	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacacacataccttcacaggCttagcagtggtcttacagaa	14	9	7	11	0	2	1	1	0	1	1	2	1	2	1	1	2	4	2	1	2	5	4			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr1:75708580C>T	ENST00000370855.5	-	8	575	c.462G>A	c.(460-462)aaG>aaA	p.K154K	SLC44A5_ENST00000370859.3_Silent_p.K154K|SLC44A5_ENST00000535611.1_Silent_p.K24K	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	154						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						CCTTCACAGGCTTAGCAGTGG	0.368													16	170					0	0	0.006122	0	0	T	75708580	C	T	75708580	2	4	149	1	0	0	0	0	0	0	0	1	14694	796	28	2		2	SLC44A5	1	75708580	Silent	SNP	C	TCGA-G9-6499-01A-12D-1961-08		75708580	173542041	1	7066											
CLK2	1196	broad.mit.edu	37	chr1	155240637	155240637	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tagctgtcctctcgccgacgCcgtcgtgtccggtcactact	4	11	10	16	6	2	0	1	0	1	0	6	1	4	0	4	1	2	1	4	1	2	2			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr1:155240637C>T	ENST00000368361.4	-	2	447	c.132G>A	c.(130-132)cgG>cgA	p.R44R	CLK2_ENST00000536801.1_Silent_p.R44R|CLK2_ENST00000361168.5_Silent_p.R44R|CLK2_ENST00000355560.4_Silent_p.R44R			P49760	CLK2_HUMAN	CDC-like kinase 2	44						nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CTCGCCGACGCCGTCGTGTCC	0.552								Other conserved DNA damage response genes					16	215					0	0	0.00499	0	0	T	155240637	C	T	155240637	2	4	149	1	0	0	0	0	0	0	0	1	3560	726	26	2		2	CLK2	1	155240637	Silent	SNP	C	TCGA-G9-6499-01A-12D-1961-08	79532057	155240637	94009984	2	7067											
ARHGEF11	9826	broad.mit.edu	37	chr1	156937915	156937915	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgagttccgattcatcaatGactagagaaacaaagaattc	16	9	7	9	2	2	3	2	1	0	2	4	6	3	3	2	0	1	1	2	0	5	4			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr1:156937915G>A	ENST00000368194.3	-	11	1866	c.825_splice	c.e11-1	p.S276_splice	ARHGEF11_ENST00000361409.2_Splice_Site_p.S236_splice	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	236					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ATTCATCAATGACTAGAGAAA	0.517													15	46					0	0	0.00245	0	0	A	156937915	G	A	156937915	5	1	149	1	0	0	0	0	0	0	1	0	893	1304	45	2	3985	2	ARHGEF11	1	156937915	Splice_Site	SNP	G	TCGA-G9-6499-01A-12D-1961-08	1697278	156937915	92312706	3	7068											
TMEM63A	9725	broad.mit.edu	37	chr1	226059717	226059717	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaaagtcttgttgacctgaGgaggaagtcgatgacaatct	12	11	11	7	1	3	3	1	3	2	0	4	6	3	5	1	2	0	1	1	2	3	2			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr1:226059717G>A	ENST00000366835.3	-	5	573	c.303C>T	c.(301-303)tcC>tcT	p.S101S		NM_014698.2	NP_055513.2	O94886	TM63A_HUMAN	transmembrane protein 63A	101						integral to membrane|lysosomal membrane	nucleotide binding			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					GTTGACCTGAGGAGGAAGTCG	0.438													4	22					0	0	0.009096	0	0	A	226059717	G	A	226059717	2	1	149	1	0	0	0	0	0	0	0	1	16250	987	35	2		2	TMEM63A	1	226059717	Silent	SNP	G	TCGA-G9-6499-01A-12D-1961-08	69121802	226059717	23190904	4	7069											
BRE	9577	broad.mit.edu	37	chr2	28550226	28550226	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactggctgcaagctgctcCagccccagaggaactggcca	11	5	11	14	0	0	1	0	0	0	1	1	2	1	2	4	3	6	4	4	3	3	0			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr2:28550226C>G	ENST00000344773.2	+	12	1312	c.1174C>G	c.(1174-1176)Cag>Gag	p.Q392E	BRE_ENST00000361704.2_Intron|BRE_ENST00000379624.1_Intron|BRE_ENST00000379632.2_Intron|BRE_ENST00000342045.2_Intron	NM_004899.4	NP_004890.2	Q9NXR7	BRE_HUMAN	brain and reproductive organ-expressed (TNFRSF1A modulator)	0					apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					CAAGCTGCTCCAGCCCCAGAG	0.557													29	182					0	0	0.009535	0	0	G	28550226	C	G	28550226	3	3	149	1	0	0	0	0	1	0	0	0	1511	595	21	4	1263	4	BRE	2	28550226	Missense_Mutation	SNP	C	TCGA-G9-6499-01A-12D-1961-08		28550226	214649147	5	7070											
LOXL3	84695	broad.mit.edu	37	chr2	74762839	74762839	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtccccctatttgcaccTcgactcgcccctcatgttgg	5	11	8	17	2	1	0	1	0	0	0	4	1	2	0	5	2	1	2	5	2	1	3			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr2:74762839T>C	ENST00000264094.3	-	8	1363	c.1292A>G	c.(1291-1293)gAg>gGg	p.E431G	LOXL3_ENST00000409549.1_Intron|LOXL3_ENST00000393937.2_Missense_Mutation_p.E286G|LOXL3_ENST00000409249.1_Intron|LOXL3_ENST00000409986.1_Missense_Mutation_p.E286G	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	431	SRCR 4.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						TATTTGCACCTCGACTCGCCC	0.622													3	90					0	0	0.009096	0	0	C	74762839	T	C	74762839	3	2	149	1	0	0	0	0	1	0	0	0	8946	1551	54	3	997	3	LOXL3	2	74762839	Missense_Mutation	SNP	T	TCGA-G9-6499-01A-12D-1961-08	46212613	74762839	168436534	6	7071											
GRIP2	80852	broad.mit.edu	37	chr3	14561979	14561979	+	RNA	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtggtggtgagcgagatccCcagggcagaccctggcgtct	6	7	17	11	2	1	3	0	1	1	2	2	4	2	3	3	5	1	1	3	5	0	0			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr3:14561979C>G	ENST00000273083.3	-	0	843							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						AGCGAGATCCCCAGGGCAGAC	0.552													8	37					0	0	0.004482	0	0	G	14561979	C	G	14561979	1	3	149	0	1	0	0	0	0	0	0	0	6829	623	22	4		4	GRIP2	3	14561979	RNA	SNP	C	TCGA-G9-6499-01A-12D-1961-08		14561979	183460451	7	7072											
GRIA2	2891	broad.mit.edu	37	chr4	158254022	158254022	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtgatgactgaagccttcCgcaacctaaggaagcaaaga	16	6	10	9	1	0	4	0	3	0	1	1	5	1	5	3	1	3	2	3	1	6	2			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr4:158254022C>T	ENST00000296526.7	+	7	1259	c.934C>T	c.(934-936)Cgc>Tgc	p.R312C	GRIA2_ENST00000393815.2_Missense_Mutation_p.R265C|GRIA2_ENST00000449365.1_Missense_Mutation_p.R265C|GRIA2_ENST00000507898.1_Missense_Mutation_p.R265C|GRIA2_ENST00000264426.9_Missense_Mutation_p.R312C	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	312					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	TGAAGCCTTCCGCAACCTAAG	0.468													35	124					0	0	0.003755	0	0	T	158254022	C	T	158254022	3	4	149	1	0	0	0	0	1	0	0	0	6809	652	23	1	960	1	GRIA2	4	158254022	Missense_Mutation	SNP	C	TCGA-G9-6499-01A-12D-1961-08		158254022	32900254	8	7073											
TRIO	7204	broad.mit.edu	37	chr5	14508079	14508079	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcagctcaacacgacctacTacatccaccagttactgggg	11	9	7	14	1	2	0	2	0	0	0	3	1	3	0	3	2	5	2	3	2	4	4			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr5:14508079T>C	ENST00000344204.4	+	57	8866	c.8842T>C	c.(8842-8844)Tac>Cac	p.Y2948H	TRIO_ENST00000344135.5_Missense_Mutation_p.Y447H|TRIO_ENST00000537187.1_Missense_Mutation_p.Y2772H	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2948	Protein kinase.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CACGACCTACTACATCCACCA	0.517													9	65					0	0	0.006214	0	0	C	14508079	T	C	14508079	3	2	149	1	0	0	0	0	1	0	0	0	16613	1522	53	3	9068	3	TRIO	5	14508079	Missense_Mutation	SNP	T	TCGA-G9-6499-01A-12D-1961-08		14508079	166407181	9	7074											
PCDHA12	0	broad.mit.edu	37	chr5	140256229	140256229	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcatctgctcactgacacCtcatgttcccttcaagctgg	7	12	8	14	0	5	1	4	1	1	0	6	1	6	1	2	2	2	3	2	2	1	2			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr5:140256229C>T	ENST00000398631.2	+	1	1172	c.1172C>T	c.(1171-1173)cCt>cTt	p.P391L	PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCACTGACACCTCATGTTCCC	0.567													21	135					0	0	0.010504	0	0	T	140256229	C	T	140256229	3	4	149	1	0	0	0	0	1	0	0	0	11569	681	24	2	1174	2	PCDHA12	5	140256229	Missense_Mutation	SNP	C	TCGA-G9-6499-01A-12D-1961-08	125748150	140256229	40659031	10	7075											
PCDHAC1	0	broad.mit.edu	37	chr5	140308873	140308873	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatatcctgtattcagattcGgaataggaaaggggatcacg	14	10	11	6	2	2	1	2	0	0	1	4	4	3	4	1	4	0	1	1	4	6	5			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr5:140308873G>T	ENST00000253807.2	+	1	2396	c.2396G>T	c.(2395-2397)cGg>cTg	p.R799L	PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.R799L|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000409494.1_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTCAGATTCGGAATAGGAAA	0.453													4	133					0.000602214	0.00106463	0.000602	1	0	T	140308873	G	T	140308873	3	4	149	1	0	0	0	0	1	0	0	0	11579	1116	39	4	2398	4	PCDHAC1	5	140308873	Missense_Mutation	SNP	G	TCGA-G9-6499-01A-12D-1961-08	52644	140308873	40606387	11	7076											
SGCD	6444	broad.mit.edu	37	chr5	155935636	155935636	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgggaaacctgaggatcaCagaaaaaggtctaaagctag	18	6	11	6	0	2	2	1	1	1	1	2	4	2	4	1	3	2	1	1	3	7	2			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr5:155935636C>G	ENST00000435422.3	+	3	702	c.215C>G	c.(214-216)aCa>aGa	p.T72R	SGCD_ENST00000447401.1_Missense_Mutation_p.T73R|SGCD_ENST00000517913.1_Missense_Mutation_p.T73R|SGCD_ENST00000337851.4_Missense_Mutation_p.T73R	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	72					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTGAGGATCACAGAAAAAGGT	0.413													13	45					0	0	0.001855	0	0	G	155935636	C	G	155935636	3	3	149	1	0	0	0	0	1	0	0	0	14255	478	17	4	228	4	SGCD	5	155935636	Missense_Mutation	SNP	C	TCGA-G9-6499-01A-12D-1961-08	15626763	155935636	24979624	12	7077											
GABRR1	2569	broad.mit.edu	37	chr6	89888605	89888605	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgctcacatagctgcttcTctgacttttcctctgtgggg	5	15	9	12	0	3	1	1	1	2	0	5	1	4	1	1	2	3	3	1	2	1	4			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr6:89888605T>G	ENST00000435811.1	-	9	1727	c.1273A>C	c.(1273-1275)Aga>Cga	p.R425R	GABRR1_ENST00000454853.2_Silent_p.R442R|GABRR1_ENST00000369451.3_Silent_p.R355R	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	442					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	TAGCTGCTTCTCTGACTTTTC	0.478													14	100					0	0	0.001855	0	0	G	89888605	T	G	89888605	2	3	149	1	0	0	0	0	0	0	0	1	6211	1559	54	5		5	GABRR1	6	89888605	Silent	SNP	T	TCGA-G9-6499-01A-12D-1961-08		89888605	81226462	13	7078											
CDCA7L	55536	broad.mit.edu	37	chr7	21942672	21942672	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gattcctgtggcacagcggcCgtcacgcttccgacagtagc	7	8	12	14	4	1	0	1	0	0	0	3	2	3	0	3	2	2	3	3	2	1	3			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr7:21942672C>T	ENST00000406877.3	-	9	1537	c.1258G>A	c.(1258-1260)Ggc>Agc	p.G420S	CDCA7L_ENST00000356195.5_Missense_Mutation_p.G386S|CDCA7L_ENST00000373934.4_Missense_Mutation_p.G374S	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	420					positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						GCACAGCGGCCGTCACGCTTC	0.483													7	80					0	0	0.004482	0	0	T	21942672	C	T	21942672	3	4	149	1	0	0	0	0	1	0	0	0	3113	652	23	1	114	1	CDCA7L	7	21942672	Missense_Mutation	SNP	C	TCGA-G9-6499-01A-12D-1961-08		21942672	137195991	14	7079											
CDK13	8621	broad.mit.edu	37	chr7	40132728	40132728	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgactcagttaataaaggctCagcagtcaaagcagaaagat	17	8	9	7	0	3	3	3	1	0	2	3	3	3	3	0	1	2	4	0	1	5	2			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr7:40132728C>G	ENST00000181839.4	+	13	4185	c.3580C>G	c.(3580-3582)Cag>Gag	p.Q1194E	CDK13_ENST00000340829.5_Missense_Mutation_p.Q1134E	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	1194					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						AATAAAGGCTCAGCAGTCAAA	0.502													32	165					0	0	0.008361	0	0	G	40132728	C	G	40132728	3	3	149	1	0	0	0	0	1	0	0	0	3151	827	29	4	3630	4	CDK13	7	40132728	Missense_Mutation	SNP	C	TCGA-G9-6499-01A-12D-1961-08	18190056	40132728	119005935	15	7080											
TYW1	55253	broad.mit.edu	37	chr7	66489943	66489943	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttggtggtgaggaccatcaGagcctaaattccattgttga	10	13	11	7	0	1	3	1	2	0	1	2	4	2	4	3	3	1	1	3	3	2	5			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr7:66489943G>A	ENST00000359626.5	+	7	1082	c.918G>A	c.(916-918)caG>caA	p.Q306Q		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	306					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				AGGACCATCAGAGCCTAAATT	0.418													6	120					0	0	0.001168	0	0	A	66489943	G	A	66489943	2	1	149	1	0	0	0	0	0	0	0	1	16880	933	33	2		2	TYW1	7	66489943	Silent	SNP	G	TCGA-G9-6499-01A-12D-1961-08	26357215	66489943	92648720	16	7081											
CNPY4	245812	broad.mit.edu	37	chr7	99720144	99720144	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttagagaatttatgtgagCggatcctggactatagtgtt	10	14	11	6	1	0	2	0	1	0	1	1	5	1	4	2	2	1	1	2	2	5	6			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr7:99720144C>T	ENST00000262932.3	+	3	418	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W	RP11-506M12.1_ENST00000494221.1_RNA|CNPY4_ENST00000480692.1_3'UTR	NM_152755.1	NP_689968.1	Q8N129	CNPY4_HUMAN	canopy FGF signaling regulator 4	96						extracellular region				breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TTTATGTGAGCGGATCCTGGA	0.522													75	190					0	0	0.01441	0	0	T	99720144	C	T	99720144	3	4	149	1	0	0	0	0	1	0	0	0	3653	759	27	1	296	1	CNPY4	7	99720144	Missense_Mutation	SNP	C	TCGA-G9-6499-01A-12D-1961-08	33230201	99720144	59418519	17	7082											
ZC3H3	23144	broad.mit.edu	37	chr8	144620720	144620720	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cactgagccagacggaactgGctgatctgtgtggccagcat	9	8	13	11	1	1	3	0	2	1	1	1	4	1	4	2	3	3	2	2	3	1	0			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr8:144620720G>T	ENST00000262577.5	-	2	848	c.817C>A	c.(817-819)Cca>Aca	p.P273T		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	273					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			GACGGAACTGGCTGATCTGTG	0.652													18	144					3.41278e-10	6.25677e-10	0.00499	1	0	T	144620720	G	T	144620720	3	4	149	1	0	0	0	0	1	0	0	0	17628	1203	42	4	2073	4	ZC3H3	8	144620720	Missense_Mutation	SNP	G	TCGA-G9-6499-01A-12D-1961-08		144620720	1743302	18	7083											
ADAMTSL2	9719	broad.mit.edu	37	chr9	136405789	136405789	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtggacggccagcggcagcTcatggtccccgcccgcgacg	5	4	15	17	7	1	0	1	0	0	0	2	2	2	1	4	4	2	2	4	4	0	0			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr9:136405789T>A	ENST00000393061.3	+	6	1241	c.809T>A	c.(808-810)cTc>cAc	p.L270H	ADAMTSL2_ENST00000393060.1_Missense_Mutation_p.L161H|ADAMTSL2_ENST00000354484.4_Missense_Mutation_p.L161H			Q86TH1	ATL2_HUMAN	ADAMTS-like 2	161					negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		CAGCGGCAGCTCATGGTCCCC	0.557													18	54					0	0	0.010504	0	0	A	136405789	T	A	136405789	3	1	149	1	0	0	0	0	1	0	0	0	274	1551	54	5	500	5	ADAMTSL2	9	136405789	Missense_Mutation	SNP	T	TCGA-G9-6499-01A-12D-1961-08		136405789	4807642	19	7084											
CD248	57124	broad.mit.edu	37	chr11	66083697	66083697	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggtcctcgcaactgcgccCgtctgctgccagccggaagc	5	6	14	16	4	1	0	0	0	1	0	3	1	2	1	4	3	6	2	4	3	2	0			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr11:66083697C>G	ENST00000311330.3	-	1	818	c.802G>C	c.(802-804)Ggg>Cgg	p.G268R	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	268						integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	CAACTGCGCCCGTCTGCTGCC	0.672													7	40					0	0	0.00308	0	0	G	66083697	C	G	66083697	3	3	149	1	0	0	0	0	1	0	0	0	3011	652	23	4	1475	4	CD248	11	66083697	Missense_Mutation	SNP	C	TCGA-G9-6499-01A-12D-1961-08		66083697	68922819	20	7085											
AMOTL1	154810	broad.mit.edu	37	chr11	94533202	94533202	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagcaacaccttcccggctcGgggaatggaaagggcttcaa	12	6	12	11	2	1	0	1	0	0	0	3	2	2	2	2	5	2	3	2	5	5	2			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr11:94533202G>T	ENST00000433060.2	+	3	987	c.846G>T	c.(844-846)tcG>tcT	p.S282S	AMOTL1_ENST00000317837.9_Silent_p.S282S|AMOTL1_ENST00000317829.8_Silent_p.S232S	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	282						cytoplasm|tight junction	identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				TTCCCGGCTCGGGGAATGGAA	0.627													4	132					0.000602214	0.00106463	0.000602	1	0	T	94533202	G	T	94533202	2	4	149	1	0	0	0	0	0	0	0	1	579	1103	39	4		4	AMOTL1	11	94533202	Silent	SNP	G	TCGA-G9-6499-01A-12D-1961-08	28449505	94533202	40473314	21	7086											
OR6T1	219874	broad.mit.edu	37	chr11	123813655	123813655	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcttctctcagtgcttgctgCaccttgtcattgcggagagt	5	14	11	11	1	3	1	2	0	1	1	4	2	3	1	1	1	4	4	1	1	0	4			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr11:123813655C>A	ENST00000321252.2	-	1	925	c.891G>T	c.(889-891)gtG>gtT	p.V297V		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GTGCTTGCTGCACCTTGTCAT	0.502													26	295					2.65835e-16	5.16032e-16	0.007291	1	0	A	123813655	C	A	123813655	2	1	149	1	0	0	0	0	0	0	0	1	11257	697	25	4		4	OR6T1	11	123813655	Silent	SNP	C	TCGA-G9-6499-01A-12D-1961-08	29280453	123813655	11192861	22	7087											
ARID2	196528	broad.mit.edu	37	chr12	46246100	46246100	+	Frame_Shift_Del	DEL	T	T	-																															ccaatggaaccacaagggacTttagatatcactcagcaaga																										TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr12:46246100delT	ENST00000334344.6	+	15	4366	c.4194delT	c.(4192-4194)acfs	p.T1398fs	ARID2_ENST00000422737.1_Frame_Shift_Del_p.T1249fs|ARID2_ENST00000457135.1_Frame_Shift_Del_p.T6fs|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Frame_Shift_Del_p.T1008fs	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1398					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CACAAGGGACTTTAGATATCA	0.368			"N, S, F"		hepatocellular carcinoma								13	64	---	---	---	---						-	46246100	T	-	46246100	7	5	149	1	0	1	0	1	0	0	0	0	912	1596	56	0	4252	0	ARID2	12	46246100	Frame_Shift_Del	DEL	T	TCGA-G9-6499-01A-12D-1961-08		46246100	87605795	23	7088											
CD63	0	broad.mit.edu	37	chr12	56119956	56119956	+	Frame_Shift_Del	DEL	A	A	-																															atcccacagcccacagtaacAttaatgcagcaggagtcggg																										TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr12:56119956delA	ENST00000549117.1	-	6	952	c.516delT	c.(514-516)aafs	p.N172fs	CD63_ENST00000552754.1_Frame_Shift_Del_p.N149fs|CD63_ENST00000552067.1_Frame_Shift_Del_p.N79fs|CD63_ENST00000550776.1_Frame_Shift_Del_p.N90fs|CD63_ENST00000548160.1_Frame_Shift_Del_p.N79fs|CD63_ENST00000552692.1_Frame_Shift_Del_p.N172fs|CD63_ENST00000420846.3_Frame_Shift_Del_p.N172fs|CD63_ENST00000548898.1_Frame_Shift_Del_p.N79fs|CD63_ENST00000257857.4_Frame_Shift_Del_p.N172fs|CD63_ENST00000546939.1_Frame_Shift_Del_p.N90fs	NM_001257389.1	NP_001244318.1	P08962	CD63_HUMAN	CD63 molecule	172					platelet activation|platelet degranulation	integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane				kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						CCACAGTAACATTAATGCAGC	0.498													13	99	---	---	---	---						-	56119956	A	-	56119956	7	5	149	1	0	1	0	1	0	0	0	0	3051	214	8	0	212	0	CD63	12	56119956	Frame_Shift_Del	DEL	A	TCGA-G9-6499-01A-12D-1961-08	9873856	56119956	77731939	24	7089											
ATP6V0A2	23545	broad.mit.edu	37	chr12	124212379	124212379	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagtggaagcatttgaaaaaAtgttgtggagagtctgcaaa	16	10	12	3	0	1	2	0	1	1	1	1	4	1	3	0	2	2	3	0	2	6	2			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr12:124212379A>C	ENST00000330342.3	+	6	819	c.571A>C	c.(571-573)Atg>Ctg	p.M191L		NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	191					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		ATTTGAAAAAATGTTGTGGAG	0.408													23	61					0	0	0.012319	0	0	C	124212379	A	C	124212379	3	2	149	1	0	0	0	0	1	0	0	0	1167	101	4	5	593	5	ATP6V0A2	12	124212379	Missense_Mutation	SNP	A	TCGA-G9-6499-01A-12D-1961-08	68092423	124212379	9639516	25	7090											
UBC	7316	broad.mit.edu	37	chr12	125397652	125397652	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcccacctctgagacggagTaccaggtgcaaggtggactc	10	7	12	12	1	1	1	0	1	1	1	3	4	2	3	3	4	2	2	3	4	2	1	rs146795524		TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr12:125397652T>C	ENST00000536769.1	-	1	2242	c.666A>G	c.(664-666)gtA>gtG	p.V222V	UBC_ENST00000538617.1_Intron|UBC_ENST00000339647.5_Silent_p.V222V|UBC_ENST00000546120.1_Silent_p.V146V			P0CG48	UBC_HUMAN	ubiquitin C	222	Ubiquitin-like 3.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TGAGACGGAGTACCAGGTGCA	0.512													4	134					0	0	0.000602	0	0	C	125397652	T	C	125397652	2	2	149	1	0	0	0	0	0	0	0	1	16903	1625	57	3		3	UBC	12	125397652	Silent	SNP	T	TCGA-G9-6499-01A-12D-1961-08	1185273	125397652	8454243	26	7091											
INO80	54617	broad.mit.edu	37	chr15	41319812	41319813	+	Frame_Shift_Ins	INS	-	-	A																															ctcgtggactggccacacacINSaaaaaagatggcagctcagt																										TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr15:41319812_41319813insA	ENST00000361937.3	-	25	3453_3454	c.3029_3030insT	c.(3028-3030)ttgfs	p.L1010fs	RP11-540O11.4_ENST00000560178.1_RNA|INO80_ENST00000401393.3_Frame_Shift_Ins_p.L1010fs			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1010	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TGGCCACACACAAAAAAGATGG	0.47													11	70	---	---	---	---						A	41319813	-	A	41319812	7	5	149	1	0	1	1	0	0	0	0	0	7790	477	17	0	1688	0	INO80	15	41319812	Frame_Shift_Ins	INS	-	TCGA-G9-6499-01A-12D-1961-08		41319812	61211580	27	7092											
VPS13C	54832	broad.mit.edu	37	chr15	62204152	62204152	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatggtacaaaagggagtcaGggtaactattcgtgaaaggt	15	9	13	4	1	1	1	1	1	0	0	2	2	1	2	0	4	2	2	0	4	7	4			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr15:62204152G>C	ENST00000261517.5	-	63	8675	c.8602C>G	c.(8602-8604)Ctg>Gtg	p.L2868V	VPS13C_ENST00000395896.4_Missense_Mutation_p.L2868V|VPS13C_ENST00000249837.3_Missense_Mutation_p.L2825V|VPS13C_ENST00000395898.3_Missense_Mutation_p.L2825V	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	2868					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						AAGGGAGTCAGGGTAACTATT	0.368													12	53					0	0	0.001855	0	0	C	62204152	G	C	62204152	3	2	149	1	0	0	0	0	1	0	0	0	17251	991	35	4	2779	4	VPS13C	15	62204152	Missense_Mutation	SNP	G	TCGA-G9-6499-01A-12D-1961-08	20884340	62204152	40327240	28	7093											
TRIP4	9325	broad.mit.edu	37	chr15	64737299	64737299	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttcctattaaaggaaatcCaaaaatctgtaagtcatgat	16	13	6	6	0	2	1	1	1	1	0	4	2	4	2	2	1	0	2	2	1	7	4			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr15:64737299C>G	ENST00000261884.3	+	12	1730	c.1670C>G	c.(1669-1671)cCa>cGa	p.P557R		NM_016213.4	NP_057297.2	Q15650	TRIP4_HUMAN	thyroid hormone receptor interactor 4	557					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						AAAGGAAATCCAAAAATCTGT	0.348													11	48					0	0	0.013537	0	0	G	64737299	C	G	64737299	3	3	149	1	0	0	0	0	1	0	0	0	16619	594	21	4	1716	4	TRIP4	15	64737299	Missense_Mutation	SNP	C	TCGA-G9-6499-01A-12D-1961-08	2533147	64737299	37794093	29	7094											
SMAD6	4091	broad.mit.edu	37	chr15	67073658	67073658	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgcccggcggccgcgccctgGtcgtgcgcaaggtgcccccc	2	4	15	20	7	0	0	0	0	0	0	1	0	0	0	6	4	2	1	6	4	1	0			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr15:67073658G>T	ENST00000288840.5	+	4	2307	c.1276G>T	c.(1276-1278)Gtc>Ttc	p.V426F	SMAD6_ENST00000338426.4_Missense_Mutation_p.V165F	NM_005585.4	NP_005576.3	O43541	SMAD6_HUMAN	SMAD family member 6	426	MH2.				BMP signaling pathway|immune response|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of caspase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of SMAD protein complex assembly|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of S phase of mitotic cell cycle|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	cytosol|transcription factor complex	co-SMAD binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I activin receptor binding|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			lung(1)|skin(1)	2						CCGCGCCCTGGTCGTGCGCAA	0.731													9	42					2.52707e-12	4.81115e-12	0.006214	1	0	T	67073658	G	T	67073658	3	4	149	1	0	0	0	0	1	0	0	0	14816	1261	44	4	1328	4	SMAD6	15	67073658	Missense_Mutation	SNP	G	TCGA-G9-6499-01A-12D-1961-08	2336359	67073658	35457734	30	7095											
PCSK6	5046	broad.mit.edu	37	chr15	101983834	101983834	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttaaaggttttgctgtgaTaaaaatggtagtaatcttcc	12	17	8	4	0	1	1	0	1	1	0	2	1	2	1	1	2	1	4	1	2	7	8			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr15:101983834T>C	ENST00000348070.1	-	3	325	c.326A>G	c.(325-327)tAt>tGt	p.Y109C	PCSK6_ENST00000344273.2_Missense_Mutation_p.Y109C|PCSK6_ENST00000398181.2_Missense_Mutation_p.Y109C|PCSK6_ENST00000358417.3_Missense_Mutation_p.Y109C|PCSK6_ENST00000561177.1_5'UTR	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	110					glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTTGCTGTGATAAAAATGGTA	0.443													26	169					0	0	0.00333	0	0	C	101983834	T	C	101983834	3	2	149	1	0	0	0	0	1	0	0	0	11651	1406	49	3	3143	3	PCSK6	15	101983834	Missense_Mutation	SNP	T	TCGA-G9-6499-01A-12D-1961-08	34910176	101983834	547558	31	7096											
ZFHX3	463	broad.mit.edu	37	chr16	72831219	72831223	+	Frame_Shift_Del	DEL	GCAGG	GCAGG	-																															ctgctgctgctgtagttgcaGcagggtctcagttgtcatgg																										TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr16:72831219_72831223delGCAGG	ENST00000268489.5	-	9	6030_6034	c.5358_5362delCCTGC	c.(5356-5364)actgfs	p.TLL1786fs	ZFHX3_ENST00000397992.5_Frame_Shift_Del_p.TLL872fs	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1786					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TGTAGTTGCAGCAGGGTCTCAGTTG	0.58													7	146	---	---	---	---						-	72831223	GCAGG	-	72831219	7	5	149	1	0	1	0	1	0	0	0	0	17692	962	34	0	5757	0	ZFHX3	16	72831219	Frame_Shift_Del	DEL	GCAGG	TCGA-G9-6499-01A-12D-1961-08		72831219	17523534	32	7097											
IRF8	3394	broad.mit.edu	37	chr16	85936654	85936654	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggtggtcggcggcttcgAcagtggctgatcgagcagat	8	9	16	8	4	0	2	0	1	0	1	3	4	0	2	0	5	1	3	0	5	1	1			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr16:85936654A>C	ENST00000268638.5	+	2	455	c.33A>C	c.(31-33)cgA>cgC	p.R11R	IRF8_ENST00000563180.1_Silent_p.R11R	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	11					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				GGCGGCTTCGACAGTGGCTGA	0.488													27	167					0	0	0.012213	0	0	C	85936654	A	C	85936654	2	2	149	1	0	0	0	0	0	0	0	1	7880	262	10	5		5	IRF8	16	85936654	Silent	SNP	A	TCGA-G9-6499-01A-12D-1961-08	13105435	85936654	4418099	33	7098											
TP53	7157	broad.mit.edu	37	chr17	7578404	7578404	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcgctcatggtgggggcAgcgcctcacaacctccgtca	7	6	13	15	3	3	0	3	0	0	0	4	0	4	0	3	3	3	3	3	3	1	0			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr17:7578404A>G	ENST00000420246.2	-	5	658	c.526T>C	c.(526-528)Tgc>Cgc	p.C176R	TP53_ENST00000445888.2_Missense_Mutation_p.C176R|TP53_ENST00000359597.4_Missense_Mutation_p.C176R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.C176R|TP53_ENST00000413465.2_Missense_Mutation_p.C176R|TP53_ENST00000455263.2_Missense_Mutation_p.C176R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	176	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (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.C176S(10)|p.C176R(8)|p.0?(8)|p.C176fs*71(7)|p.C176G(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C176fs*5(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.C44G(1)|p.R42fs*24(1)|p.C176fs*72(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.C83G(1)|p.C176fs*6(1)|p.R174fs*3(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)		TGGTGGGGGCAGCGCCTCACA	0.647		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)			22	56					0	0	0.010504	0	0	G	7578404	A	G	7578404	3	3	149	1	0	0	0	0	1	0	0	0	16442	188	7	3	772	3	TP53	17	7578404	Missense_Mutation	SNP	A	TCGA-G9-6499-01A-12D-1961-08		7578404	73616806	34	7099											
TNS4	84951	broad.mit.edu	37	chr17	38638448	38638448	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatgctggcacacgaaggcAgagaggctccctgaaaggaa	14	4	14	9	1	0	2	0	1	0	1	1	6	1	3	1	4	1	4	1	4	4	0			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr17:38638448A>T	ENST00000254051.6	-	8	1763	c.1605T>A	c.(1603-1605)tcT>tcA	p.S535S		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	535	SH2.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			ACACGAAGGCAGAGAGGCTCC	0.622													4	47					0	0	0.000602	0	0	T	38638448	A	T	38638448	2	4	149	1	0	0	0	0	0	0	0	1	16405	175	7	5		5	TNS4	17	38638448	Silent	SNP	A	TCGA-G9-6499-01A-12D-1961-08	31060044	38638448	42556762	35	7100											
ITGB4	3691	broad.mit.edu	37	chr17	73725380	73725380	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcccaacagtgacccccccTtctccttcaagaacgtcatc	9	8	6	18	1	3	2	2	1	1	1	5	2	3	2	5	1	2	0	5	1	3	2			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr17:73725380T>G	ENST00000200181.3	+	7	788	c.601T>G	c.(601-603)Ttc>Gtc	p.F201V	ITGB4_ENST00000579662.1_Missense_Mutation_p.F201V|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000450894.3_Missense_Mutation_p.F201V|ITGB4_ENST00000449880.2_Missense_Mutation_p.F201V|ITGB4_ENST00000339591.3_Missense_Mutation_p.F201V	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	201	VWFA.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGACCCCCCCTTCTCCTTCAA	0.607													11	71					0	0	0.001855	0	0	G	73725380	T	G	73725380	3	3	149	1	0	0	0	0	1	0	0	0	7941	1609	56	5	623	5	ITGB4	17	73725380	Missense_Mutation	SNP	T	TCGA-G9-6499-01A-12D-1961-08	35086932	73725380	7469830	36	7101											
CEP76	79959	broad.mit.edu	37	chr18	12678245	12678245	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggagcacacacagatttaaTtgcttcctcactcatgggtt	11	12	8	10	0	2	1	2	0	0	1	3	2	3	2	1	2	2	3	1	2	1	5			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr18:12678245T>C	ENST00000262127.2	-	10	1711	c.1486A>G	c.(1486-1488)Att>Gtt	p.I496V	RP11-973H7.2_ENST00000585331.1_RNA|CEP76_ENST00000423709.2_Missense_Mutation_p.I421V	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	496					G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ACAGATTTAATTGCTTCCTCA	0.433													40	122					0	0	0.00874	0	0	C	12678245	T	C	12678245	3	2	149	1	0	0	0	0	1	0	0	0	3283	1493	52	3	505	3	CEP76	18	12678245	Missense_Mutation	SNP	T	TCGA-G9-6499-01A-12D-1961-08		12678245	65399003	37	7102											
NWD1	284434	broad.mit.edu	37	chr19	16902377	16902377	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacacctacctgtgccgtcTcagtccagaagcaaggaaag	14	6	9	12	1	1	1	1	0	1	1	3	2	2	2	4	1	4	1	4	1	5	1			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr19:16902377T>G	ENST00000524140.2	+	14	3575	c.3157T>G	c.(3157-3159)Tca>Gca	p.S1053A	NWD1_ENST00000552788.1_Missense_Mutation_p.S1053A|NWD1_ENST00000523826.1_Missense_Mutation_p.S847A|NWD1_ENST00000549814.1_Missense_Mutation_p.S1053A|NWD1_ENST00000339803.6_Missense_Mutation_p.S918A|NWD1_ENST00000379808.3_Missense_Mutation_p.S1053A	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1053							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CTGTGCCGTCTCAGTCCAGAA	0.478													13	141					0	0	0.00245	0	0	G	16902377	T	G	16902377	3	3	149	1	0	0	0	0	1	0	0	0	10829	1551	54	5	2790	5	NWD1	19	16902377	Missense_Mutation	SNP	T	TCGA-G9-6499-01A-12D-1961-08		16902377	42226606	38	7103											
ZNF571	51276	broad.mit.edu	37	chr19	38056280	38056280	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaattctctgatgttcattCagttgggaggcacataaaaa	13	13	9	6	0	3	2	2	2	1	0	4	3	3	3	0	2	0	3	0	2	4	5			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr19:38056280C>T	ENST00000328550.2	-	4	1149	c.1050G>A	c.(1048-1050)ctG>ctA	p.L350L	ZNF571_ENST00000451802.2_Silent_p.L350L|ZNF571_ENST00000358744.3_Silent_p.L350L|ZNF571_ENST00000590751.1_Intron|ZNF571_ENST00000593133.1_Silent_p.L350L|ZNF571-AS1_ENST00000590838.1_RNA|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571-AS1_ENST00000592392.1_RNA			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	350					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GATGTTCATTCAGTTGGGAGG	0.408													10	45					0	0	0.006214	0	0	T	38056280	C	T	38056280	2	4	149	1	0	0	0	0	0	0	0	1	18060	813	29	2		2	ZNF571	19	38056280	Silent	SNP	C	TCGA-G9-6499-01A-12D-1961-08	21153903	38056280	21072703	39	7104											
LILRA1	11024	broad.mit.edu	37	chr19	55106382	55106382	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagccacactgcaggctggtCagagcccagtgaccccctgg	8	6	12	15	0	1	2	1	1	0	1	1	2	1	2	4	3	3	2	4	3	1	1			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr19:55106382C>T	ENST00000453777.1	+	4	493	c.323C>T	c.(322-324)tCa>tTa	p.S108L	LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000251372.3_Missense_Mutation_p.S108L|LILRA1_ENST00000473156.1_3'UTR	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	108	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GCAGGCTGGTCAGAGCCCAGT	0.612													28	72					0	0	0.00632	0	0	T	55106382	C	T	55106382	3	4	149	1	0	0	0	0	1	0	0	0	8824	838	29	2	333	2	LILRA1	19	55106382	Missense_Mutation	SNP	C	TCGA-G9-6499-01A-12D-1961-08	17050102	55106382	4022601	40	7105											
NCAM2	4685	broad.mit.edu	37	chr21	22782676	22782676	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ataagttgtgatgtgaaatcGaatccaccagcatcaattca	15	11	7	8	1	2	2	2	2	0	0	4	3	3	2	2	0	1	2	2	0	4	3			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr21:22782676G>A	ENST00000400546.1	+	10	1527	c.1278G>A	c.(1276-1278)tcG>tcA	p.S426S	NCAM2_ENST00000284894.7_Silent_p.S284S	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	426	Ig-like C2-type 5.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		ATGTGAAATCGAATCCACCAG	0.323													29	80					0	0	0.008361	0	0	A	22782676	G	A	22782676	2	1	149	1	0	0	0	0	0	0	0	1	10250	1045	37	1		1	NCAM2	21	22782676	Silent	SNP	G	TCGA-G9-6499-01A-12D-1961-08		22782676	25347219	41	7106											
ASCC2	84164	broad.mit.edu	37	chr22	30221628	30221628	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tacctggcaccagaatttatCgtgaggcaaggccaggagcc	11	7	12	11	1	0	2	0	1	0	1	1	3	0	3	4	4	2	2	4	4	4	3			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr22:30221628C>T	ENST00000397771.2	-	4	400	c.223G>A	c.(223-225)Gat>Aat	p.D75N	ASCC2_ENST00000542393.1_Intron|ASCC2_ENST00000307790.3_Missense_Mutation_p.D75N			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	75					regulation of transcription, DNA-dependent|transcription, DNA-dependent					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			CAGAATTTATCGTGAGGCAAG	0.502													10	102					0	0	0.008291	0	0	T	30221628	C	T	30221628	3	4	149	1	0	0	0	0	1	0	0	0	1031	884	31	1	2122	1	ASCC2	22	30221628	Missense_Mutation	SNP	C	TCGA-G9-6499-01A-12D-1961-08		30221628	21082938	42	7107											
TUBGCP6	85378	broad.mit.edu	37	chr22	50658944	50658944	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggctcagcttctggtgagaGagcccccagcaccatgtggg	7	7	15	12	0	2	2	1	1	1	1	2	3	2	2	3	3	3	3	3	3	0	1			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr22:50658944G>C	ENST00000439308.2	-	16	4336	c.3844C>G	c.(3844-3846)Ctc>Gtc	p.L1282V	TUBGCP6_ENST00000248846.5_Missense_Mutation_p.L1282V|TUBGCP6_ENST00000491449.1_5'UTR	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1282					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TCTGGTGAGAGAGCCCCCAGC	0.652													6	27					0	0	0.001984	0	0	C	50658944	G	C	50658944	3	2	149	1	0	0	0	0	1	0	0	0	16832	942	33	4	1655	4	TUBGCP6	22	50658944	Missense_Mutation	SNP	G	TCGA-G9-6499-01A-12D-1961-08	20437316	50658944	645622	43	7108											
TSPAN7	7102	broad.mit.edu	37	chrX	38525456	38525456	+	Frame_Shift_Del	DEL	T	T	-																															tctcccttattgccgagaacTccacaaatgctccctatgtg																										TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chrX:38525456delT	ENST00000378482.2	+	2	340	c.163delT	c.(163-165)ccfs	p.S55fs	TSPAN7_ENST00000422612.2_Frame_Shift_Del_p.S81fs|TSPAN7_ENST00000488893.1_3'UTR|TM4SF2_ENST00000465127.1_Frame_Shift_Del_p.S85fs|TSPAN7_ENST00000286824.6_Frame_Shift_Del_p.S72fs|TSPAN7_ENST00000545599.1_Frame_Shift_Del_p.S29fs	NM_004615.3	NP_004606.2	P41732	TSN7_HUMAN	tetraspanin 7	55					interspecies interaction between organisms	integral to plasma membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	11						TGCCGAGAACTCCACAAATGC	0.512													17	38	---	---	---	---						-	38525456	T	-	38525456	7	5	149	1	0	1	0	1	0	0	0	0	16713	1551	54	0	169	0	TSPAN7	23	38525456	Frame_Shift_Del	DEL	T	TCGA-G9-6499-01A-12D-1961-08		38525456	116745104	44	7109											
SHROOM4	57477	broad.mit.edu	37	chrX	50350711	50350713	+	In_Frame_Del	DEL	TCC	TCC	-																															cctcctcctcctcttcctctTcctcttcttcttcttcttcc																								rs6614551		TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chrX:50350711_50350713delTCC	ENST00000376020.2	-	6	3454_3456	c.3429_3431delGGA	c.(3427-3432)gaa>ga	p.EE1149del	SHROOM4_ENST00000460112.3_In_Frame_Del_p.EE1033del|SHROOM4_ENST00000289292.7_In_Frame_Del_p.EE1149del	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	1149	Glu-rich.				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					ctcttcctcttcctcttcttctt	0.547													5	10	---	---	---	---						-	50350713	TCC	-	50350711	7	5	149	1	0	1	0	1	0	0	0	0	14351	1783	62	0	1066	0	SHROOM4	23	50350711	In_Frame_Del	DEL	TCC	TCGA-G9-6499-01A-12D-1961-08	11825255	50350711	104919849	45	7110											
ATAD3C	219293	broad.mit.edu	37	chr1	1389856	1389856	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtcccgcatcacggtgctTgaggcgctgcggcaccccat	6	7	12	16	5	1	1	1	1	0	0	2	1	2	1	3	3	2	4	3	3	0	1	rs1781146		TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr1:1389856T>G	ENST00000378785.2	+	4	1349	c.354T>G	c.(352-354)ctT>ctG	p.L118L		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	118							ATP binding|nucleoside-triphosphatase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TCACGGTGCTTGAGGCGCTGC	0.667													3	13					0	0	1	0	0	G	1389856	T	G	1389856	2	3	150	1	0	0	0	0	0	0	0	1	1074	1799	63	5		5	ATAD3C	1	1389856	Silent	SNP	T	TCGA-G9-7510-01A-11D-2260-08		1389856	247860765	1	7111											
PDE4DIP	9659	broad.mit.edu	37	chr1	144874026	144874026	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aatgactcgaatgatggatgGaatctataaaatccatgaat	17	11	8	5	1	1	3	0	3	1	0	3	6	2	5	1	2	0	0	1	2	7	2			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr1:144874026G>C	ENST00000369359.4	-	34	5377	c.5339C>G	c.(5338-5340)tCc>tGc	p.S1780C	PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S1600C|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.S1644C|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S1644C|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1644					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ATGATGGATGGAATCTATAAA	0.458			T	PDGFRB	MPD								6	321					0	0	1	0	0	C	144874026	G	C	144874026	3	2	150	1	0	0	0	0	1	0	0	0	11690	1174	41	4	2165	4	PDE4DIP	1	144874026	Missense_Mutation	SNP	G	TCGA-G9-7510-01A-11D-2260-08	143484170	144874026	104376595	2	7112											
CCDC19	25790	broad.mit.edu	37	chr1	159860391	159860391	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagcagcacaatggggctgtCgctctggccctgggctgggg	5	7	18	11	1	1	0	0	0	1	0	2	1	1	0	1	6	2	5	1	6	1	0			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr1:159860391C>T	ENST00000368099.4	-	3	215	c.151G>A	c.(151-153)Gac>Aac	p.D51N	CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000426543.2_5'UTR	NM_012337.2	NP_036469.2	Q9UL16	CCD19_HUMAN	coiled-coil domain containing 19	51						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			ATGGGGCTGTCGCTCTGGCCC	0.527													12	110					0	0	1	0	0	T	159860391	C	T	159860391	3	4	150	1	0	0	0	0	1	0	0	0	2814	884	31	1	1544	1	CCDC19	1	159860391	Missense_Mutation	SNP	C	TCGA-G9-7510-01A-11D-2260-08	14986365	159860391	89390230	3	7113											
SLC38A11	151258	broad.mit.edu	37	chr2	165765267	165765267	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaagattcccaccaaaaaaCacattggcaattacctgccg	16	7	6	12	1	0	1	0	0	0	1	1	2	1	1	4	1	3	1	4	1	6	3			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr2:165765267C>A	ENST00000303735.4	-	9	1074	c.744G>T	c.(742-744)gtG>gtT	p.V248V	SLC38A11_ENST00000409662.1_Silent_p.V270V|SLC38A11_ENST00000409149.3_Silent_p.V270V|SLC38A11_ENST00000409058.1_Silent_p.V301V	NM_173512.2	NP_775783.1	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	270					amino acid transport|sodium ion transport	integral to membrane				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						CACCAAAAAACACATTGGCAA	0.393													3	49					2.56e-06	2.7648e-06	1	1	0	A	165765267	C	A	165765267	2	1	150	1	0	0	0	0	0	0	0	1	14658	465	17	4		4	SLC38A11	2	165765267	Silent	SNP	C	TCGA-G9-7510-01A-11D-2260-08		165765267	77434106	4	7114											
HOXD3	3232	broad.mit.edu	37	chr2	177036309	177036309	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgggtacgcacggcatacacGagcgcgcagctggtggaatt	9	6	15	11	6	0	0	0	0	0	0	0	2	0	1	0	4	4	5	0	4	3	3			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr2:177036309G>A	ENST00000468418.3	+	4	2696	c.606G>A	c.(604-606)acG>acA	p.T202T	HOXD3_ENST00000410016.1_Silent_p.T202T|HOXD3_ENST00000249440.3_Silent_p.T202T			P31249	HXD3_HUMAN	homeobox D3	202					anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.T202T(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		CGGCATACACGAGCGCGCAGC	0.637													7	49					0	0	1	0	0	A	177036309	G	A	177036309	2	1	150	1	0	0	0	0	0	0	0	1	7364	1045	37	1		1	HOXD3	2	177036309	Silent	SNP	G	TCGA-G9-7510-01A-11D-2260-08	11271042	177036309	66163064	5	7115											
TTN	7273	broad.mit.edu	37	chr2	179456528	179456528	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaatatccagtgattggagaAccaccatcacgatccggctt	13	9	8	11	2	1	2	1	1	0	1	3	4	3	2	4	2	1	1	4	2	3	3			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr2:179456528A>G	ENST00000589042.1	-	303	60242	c.60018T>C	c.(60016-60018)ggT>ggC	p.G20006G	TTN_ENST00000342175.6_Silent_p.G11133G|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.G18365G|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Silent_p.G10941G|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.G11066G|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Silent_p.G17438G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18365	Fibronectin type-III 44.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGATTGGAGAACCACCATCAC	0.458													8	35					0	0	1	0	0	G	179456528	A	G	179456528	2	3	150	1	0	0	0	0	0	0	0	1	16797	30	2	3		3	TTN	2	179456528	Silent	SNP	A	TCGA-G9-7510-01A-11D-2260-08	2420219	179456528	63742845	6	7116											
PDCD1	5133	broad.mit.edu	37	chr2	242794881	242794881	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgcgccgggccctgaccaCgctcatgtggaagtcacgcc	7	7	12	15	4	2	1	2	1	0	0	2	2	2	2	4	2	1	1	4	2	1	1			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr2:242794881C>T	ENST00000334409.5	-	2	397	c.328G>A	c.(328-330)Gtg>Atg	p.V110M		NM_005018.2	NP_005009.2	Q15116	PDCD1_HUMAN	programmed cell death 1	110	Ig-like V-type.				apoptosis|humoral immune response|multicellular organismal development|T cell costimulation	integral to membrane	protein tyrosine phosphatase activity|signal transducer activity			endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1)	8		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)		GCCCTGACCACGCTCATGTGG	0.677													6	48					0	0	1	0	0	T	242794881	C	T	242794881	3	4	150	1	0	0	0	0	1	0	0	0	11662	536	19	1	554	1	PDCD1	2	242794881	Missense_Mutation	SNP	C	TCGA-G9-7510-01A-11D-2260-08	63338353	242794881	404492	7	7117											
ACAA1	30	broad.mit.edu	37	chr3	38168013	38168013	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtctcaccagctgtggtagAaccatctttcttgaaggcag	10	11	10	10	0	3	2	1	1	3	1	4	2	3	2	2	2	2	3	2	2	3	3			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr3:38168013A>G	ENST00000333167.8	-	8	977	c.805T>C	c.(805-807)Tct>Cct	p.S269P	ACAA1_ENST00000480865.1_5'UTR|ACAA1_ENST00000301810.7_Missense_Mutation_p.S236P|ACAA1_ENST00000450296.1_Missense_Mutation_p.S228P|ACAA1_ENST00000544624.1_Missense_Mutation_p.S117P|ACAA1_ENST00000444607.2_3'UTR	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN	acetyl-CoA acyltransferase 1	269					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy	peroxisomal matrix	acetyl-CoA C-acyltransferase activity|protein binding			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		GCTGTGGTAGAACCATCTTTC	0.587													7	62					0	0	1	0	0	G	38168013	A	G	38168013	3	3	150	1	0	0	0	0	1	0	0	0	104	246	9	3	489	3	ACAA1	3	38168013	Missense_Mutation	SNP	A	TCGA-G9-7510-01A-11D-2260-08		38168013	159854417	8	7118											
IL20RB	53833	broad.mit.edu	37	chr3	136729019	136729019	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggtggatgcctgtgccaCggctgtgatgtctcctgagg	5	10	17	9	1	1	2	0	2	1	0	2	4	1	4	3	5	2	1	3	5	0	0			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr3:136729019C>T	ENST00000329582.4	+	7	1139	c.890C>T	c.(889-891)aCg>aTg	p.T297M	IL20RB_ENST00000309741.5_3'UTR	NM_144717.3	NP_653318.2	Q6UXL0	I20RB_HUMAN	interleukin 20 receptor beta	297						integral to membrane	receptor activity			kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						GCCTGTGCCACGGCTGTGATG	0.478													14	88					0	0	1	0	0	T	136729019	C	T	136729019	3	4	150	1	0	0	0	0	1	0	0	0	7713	536	19	1	916	1	IL20RB	3	136729019	Missense_Mutation	SNP	C	TCGA-G9-7510-01A-11D-2260-08	98561006	136729019	61293411	9	7119											
NDST4	64579	broad.mit.edu	37	chr4	115858527	115858527	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ccgggcaggtttcagatgtgGatattcttcagtgctggtga	7	13	14	7	1	3	2	2	1	1	1	3	3	3	3	1	4	1	3	1	4	1	4			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr4:115858527G>C	ENST00000264363.2	-	5	2032	c.1354C>G	c.(1354-1356)Cca>Gca	p.P452A		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	452	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TTCAGATGTGGATATTCTTCA	0.468													6	73					0	0	1	0	0	C	115858527	G	C	115858527	3	2	150	1	0	0	0	0	1	0	0	0	10305	1174	41	4	1304	4	NDST4	4	115858527	Missense_Mutation	SNP	G	TCGA-G9-7510-01A-11D-2260-08		115858527	75295749	10	7120											
ZNF131	7690	broad.mit.edu	37	chr5	43174661	43174661	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttgtggtttatgcaaggaaAtgaattaaggaggcatctca	13	13	11	4	0	1	1	1	1	1	0	2	3	1	3	0	4	1	3	0	4	5	4			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr5:43174661A>G	ENST00000509634.1	+	7	1652	c.1196A>G	c.(1195-1197)aAt>aGt	p.N399S	ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000306938.4_Missense_Mutation_p.N399S|ZNF131_ENST00000505606.2_Missense_Mutation_p.N399S|ZNF131_ENST00000399534.1_Missense_Mutation_p.N433S|ZNF131_ENST00000509156.1_Missense_Mutation_p.N433S			P52739	ZN131_HUMAN	zinc finger protein 131	433						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						ATGCAAGGAAATGAATTAAGG	0.398													11	72					0	0	1	0	0	G	43174661	A	G	43174661	3	3	150	1	0	0	0	0	1	0	0	0	17779	101	4	3	1222	3	ZNF131	5	43174661	Missense_Mutation	SNP	A	TCGA-G9-7510-01A-11D-2260-08		43174661	137740599	11	7121											
BDP1	55814	broad.mit.edu	37	chr5	70860624	70860624	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaaagaaggatataaaagtgCccaaaagcgggcccctcaag	17	4	11	9	1	1	1	1	0	0	1	1	3	1	2	3	2	2	0	3	2	8	2			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr5:70860624C>T	ENST00000358731.4	+	39	8050	c.7787C>T	c.(7786-7788)gCc>gTc	p.A2596V	BDP1_ENST00000380675.2_3'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	2596					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TATAAAAGTGCCCAAAAGCGG	0.328													6	50					0	0	1	0	0	T	70860624	C	T	70860624	3	4	150	1	0	0	0	0	1	0	0	0	1393	739	26	2	7941	2	BDP1	5	70860624	Missense_Mutation	SNP	C	TCGA-G9-7510-01A-11D-2260-08	27685963	70860624	110054636	12	7122											
TBC1D22B	55633	broad.mit.edu	37	chr6	37280704	37280704	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttttacagaagaggatgtGgagaactttgacgtgaccaa	13	11	12	5	1	0	5	0	2	0	3	0	7	0	6	1	2	2	1	1	2	4	3			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr6:37280704G>C	ENST00000373491.3	+	9	1139	c.993G>C	c.(991-993)gtG>gtC	p.V331V		NM_017772.2	NP_060242.2	Q9NU19	TB22B_HUMAN	TBC1 domain family, member 22B	331	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15			OV - Ovarian serous cystadenocarcinoma(102;0.241)			AAGAGGATGTGGAGAACTTTG	0.438													3	43					0	0	1	0	0	C	37280704	G	C	37280704	2	2	150	1	0	0	0	0	0	0	0	1	15669	1335	47	4		4	TBC1D22B	6	37280704	Silent	SNP	G	TCGA-G9-7510-01A-11D-2260-08		37280704	133834363	13	7123											
HSP90AB1	3326	broad.mit.edu	37	chr6	44218061	44218061	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagagaaggaaattagtgatGatgaggcagaggaagagaaa	19	5	16	1	0	0	6	0	3	0	3	0	11	0	8	0	3	0	1	0	3	5	1			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr6:44218061G>A	ENST00000371554.1	+	6	896	c.682G>A	c.(682-684)Gat>Aat	p.D228N	HSP90AB1_ENST00000353801.3_Missense_Mutation_p.D228N|HSP90AB1_ENST00000371646.5_Missense_Mutation_p.D228N			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	228					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			aattagtgatgatgaggcaga	0.423													6	48					0	0	1	0	0	A	44218061	G	A	44218061	3	1	150	1	0	0	0	0	1	0	0	0	7445	1290	45	2	700	2	HSP90AB1	6	44218061	Missense_Mutation	SNP	G	TCGA-G9-7510-01A-11D-2260-08	6937357	44218061	126897006	14	7124											
TRDN	10345	broad.mit.edu	37	chr6	123833489	123833490	+	Frame_Shift_Ins	INS	-	-	T																															tggtttttcttttttctcaaINSttttttccttgtgagttgct																										TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr6:123833489_123833490insT	ENST00000334268.4	-	7	885_886	c.568_569insA	c.(568-570)tgafs	p.*190fs	TRDN_ENST00000546248.1_Frame_Shift_Ins_p.*190fs|TRDN_ENST00000398178.3_Frame_Shift_Ins_p.*190fs			Q13061	TRDN_HUMAN	triadin	190					muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		TTTTTTCTCAATTTTTTCCTTG	0.272													2	4	---	---	---	---						T	123833490	-	T	123833489	7	5	150	1	0	1	1	0	0	0	0	0	16529	101	4	0	1760	0	TRDN	6	123833489	Frame_Shift_Ins	INS	-	TCGA-G9-7510-01A-11D-2260-08	79615428	123833489	47281578	15	7125											
ZNRF2	223082	broad.mit.edu	37	chr7	30395399	30395399	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atatgccttgaagaattgcaGcagggagatactatagcacg	14	9	11	7	1	0	3	0	1	0	2	0	4	0	3	1	1	5	3	1	1	6	6			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr7:30395399G>A	ENST00000323037.4	+	3	1672	c.621G>A	c.(619-621)caG>caA	p.Q207Q		NM_147128.3	NP_667339.1	Q8NHG8	ZNRF2_HUMAN	zinc and ring finger 2	207						cell junction|endosome membrane|lysosomal membrane|presynaptic membrane	ligase activity|zinc ion binding			breast(1)|endometrium(1)|lung(2)|prostate(1)	5						AAGAATTGCAGCAGGGAGATA	0.373													3	110					0	0	1	0	0	A	30395399	G	A	30395399	2	1	150	1	0	0	0	0	0	0	0	1	18254	962	34	2		2	ZNRF2	7	30395399	Silent	SNP	G	TCGA-G9-7510-01A-11D-2260-08		30395399	128743264	16	7126											
CSGALNACT1	55790	broad.mit.edu	37	chr8	19316028	19316028	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttggccatgttgagcttttCatttttcactttcatgatgg	6	19	9	7	0	3	2	3	2	0	0	3	2	3	2	1	2	1	3	1	2	0	7			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr8:19316028C>T	ENST00000454498.2	-	5	1773	c.760G>A	c.(760-762)Gaa>Aaa	p.E254K	CSGALNACT1_ENST00000522854.1_Missense_Mutation_p.E254K|CSGALNACT1_ENST00000544602.1_Missense_Mutation_p.E254K|CSGALNACT1_ENST00000311540.4_Missense_Mutation_p.E254K|CSGALNACT1_ENST00000332246.6_Missense_Mutation_p.E254K|CSGALNACT1_ENST00000518542.1_5'UTR	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	254					anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		TTGAGCTTTTCATTTTTCACT	0.448													13	229					0	0	1	0	0	T	19316028	C	T	19316028	3	4	150	1	0	0	0	0	1	0	0	0	3963	835	29	2	862	2	CSGALNACT1	8	19316028	Missense_Mutation	SNP	C	TCGA-G9-7510-01A-11D-2260-08		19316028	127047994	17	7127											
EXTL3	2137	broad.mit.edu	37	chr8	28574584	28574584	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaatcccaccacaggtgccGgtgaagcggaaatatctctt	12	8	10	11	2	1	1	0	1	1	0	3	3	2	2	3	3	2	0	3	3	4	2			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr8:28574584G>A	ENST00000220562.4	+	3	1910	c.1008G>A	c.(1006-1008)ccG>ccA	p.P336P	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	336						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		CACAGGTGCCGGTGAAGCGGA	0.547													4	43					0	0	1	0	0	A	28574584	G	A	28574584	2	1	150	1	0	0	0	0	0	0	0	1	5355	1103	39	1		1	EXTL3	8	28574584	Silent	SNP	G	TCGA-G9-7510-01A-11D-2260-08	9258556	28574584	117789438	18	7128											
RAB11FIP1	80223	broad.mit.edu	37	chr8	37732517	37732517	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggaagattcggagagctGcctgtcagaagacagcccac	11	6	14	10	1	1	4	1	0	0	4	2	6	1	5	2	3	3	1	2	3	2	1			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr8:37732517G>T	ENST00000330843.4	-	3	1150	c.1138C>A	c.(1138-1140)Cag>Aag	p.Q380K	RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.Q380K|RAB11FIP1_ENST00000524118.1_Missense_Mutation_p.Q232K|RAB11FIP1_ENST00000522727.1_Missense_Mutation_p.Q232K	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	380				QL -> DV (in Ref. 1; AAM09571).	protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			TCGGAGAGCTGCCTGTCAGAA	0.562													3	44					1	1	1	1	0	T	37732517	G	T	37732517	3	4	150	1	0	0	0	0	1	0	0	0	12945	1328	46	4	2729	4	RAB11FIP1	8	37732517	Missense_Mutation	SNP	G	TCGA-G9-7510-01A-11D-2260-08	9157933	37732517	108631505	19	7129											
KCNS2	3788	broad.mit.edu	37	chr8	99440615	99440615	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgagcaggagaagtgggaCgagcagagtgaccaggagag	13	2	18	8	2	0	4	0	1	0	3	0	9	0	5	2	3	2	2	2	3	1	0			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr8:99440615C>T	ENST00000287042.4	+	2	758	c.408C>T	c.(406-408)gaC>gaT	p.D136D	KCNS2_ENST00000521839.1_Silent_p.D136D	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	136						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			AGAAGTGGGACGAGCAGAGTG	0.567													3	50					0	0	1	0	0	T	99440615	C	T	99440615	2	4	150	1	0	0	0	0	0	0	0	1	8133	535	19	1		1	KCNS2	8	99440615	Silent	SNP	C	TCGA-G9-7510-01A-11D-2260-08	61708098	99440615	46923407	20	7130											
CYP11B2	1585	broad.mit.edu	37	chr8	143995679	143995679	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggggctggttgctggcctgaCcgtgtccacgctccctgcag	3	9	15	14	2	0	1	0	1	0	0	2	1	2	1	4	4	2	5	4	4	0	1			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr8:143995679C>T	ENST00000323110.2	-	5	957		c.e5+1			NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2						aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	GCTGGCCTGACCGTGTCCACG	0.622									Familial Hyperaldosteronism type I				4	46					0	0	1	0	0	T	143995679	C	T	143995679	5	4	150	1	0	0	0	0	0	0	1	0	4169	521	18	2	576	2	CYP11B2	8	143995679	Splice_Site	SNP	C	TCGA-G9-7510-01A-11D-2260-08	44555064	143995679	2368343	21	7131											
INVS	27130	broad.mit.edu	37	chr9	103027138	103027138	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gcattggtcctgcaacaatgGataccttgatgccattaaat	12	12	8	9	0	0	1	0	1	0	0	1	2	1	2	3	2	4	2	3	2	5	4			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr9:103027138G>C	ENST00000262457.2	+	11	1684	c.1499G>C	c.(1498-1500)gGa>gCa	p.G500A	INVS_ENST00000541287.1_Missense_Mutation_p.G404A|INVS_ENST00000262456.2_Missense_Mutation_p.G500A	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	500					negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				TGCAACAATGGATACCTTGAT	0.343													4	68					0	0	1	0	0	C	103027138	G	C	103027138	3	2	150	1	0	0	0	0	1	0	0	0	7831	1174	41	4	1537	4	INVS	9	103027138	Missense_Mutation	SNP	G	TCGA-G9-7510-01A-11D-2260-08		103027138	38186293	22	7132											
KIF5B	3799	broad.mit.edu	37	chr10	32304509	32304509	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccactggctggctgttctgaAcaaatgcacctcctccacga	9	9	8	15	1	1	1	0	1	1	0	3	2	3	1	4	2	2	4	4	2	2	1			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr10:32304509A>G	ENST00000302418.4	-	25	3297	c.2840T>C	c.(2839-2841)gTt>gCt	p.V947A		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	947	Globular.				stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				GCTGTTCTGAACAAATGCACC	0.448			T	"RET, ALK"	NSCLC								4	98					0	0	1	0	0	G	32304509	A	G	32304509	3	3	150	1	0	0	0	0	1	0	0	0	8348	43	2	3	55	3	KIF5B	10	32304509	Missense_Mutation	SNP	A	TCGA-G9-7510-01A-11D-2260-08		32304509	103230238	23	7133											
PLA2G12B	84647	broad.mit.edu	37	chr10	74714239	74714239	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaccgcacactcaccatatcGgcacctgtactgacagactc	12	7	6	16	2	1	2	1	1	0	1	3	2	1	2	3	1	2	3	3	1	3	2			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr10:74714239G>A	ENST00000373032.3	-	1	297	c.205C>T	c.(205-207)Cga>Tga	p.R69*		NM_032562.2	NP_115951.2	Q9BX93	PG12B_HUMAN	phospholipase A2, group XIIB	69					lipid catabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	9	Prostate(51;0.0198)					TCACCATATCGGCACCTGTAC	0.512													10	156					0	0	1	0	0	A	74714239	G	A	74714239	4	1	150	1	0	0	0	0	0	1	0	0	12039	1124	39	1	398	1	PLA2G12B	10	74714239	Nonsense_Mutation	SNP	G	TCGA-G9-7510-01A-11D-2260-08	42409730	74714239	60820508	24	7134											
ATM	472	broad.mit.edu	37	chr11	108225561	108225561	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgagaaaaccatggaagTgatgagaaactctcaggaaa	17	7	11	6	0	1	3	1	3	1	2	2	7	1	5	1	2	2	0	1	2	5	0			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr11:108225561T>G	ENST00000278616.4	+	61	9195	c.8810T>G	c.(8809-8811)gTg>gGg	p.V2937G	C11orf65_ENST00000526725.1_Intron|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.V2937G|ATM_ENST00000525178.1_3'UTR	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2937	PI3K/PI4K.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		ACCATGGAAGTGATGAGAAAC	0.338			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			13	80					0	0	1	0	0	G	108225561	T	G	108225561	3	3	150	1	0	0	0	0	1	0	0	0	1108	1696	59	5	9048	5	ATM	11	108225561	Missense_Mutation	SNP	T	TCGA-G9-7510-01A-11D-2260-08		108225561	26780955	25	7135											
CD163L1	283316	broad.mit.edu	37	chr12	7528499	7528499	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctgcacagcacattggcaGcatgaagagagaaatcagaa	16	6	10	9	0	2	4	1	1	1	3	2	5	2	4	0	1	3	4	0	1	3	1			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr12:7528499G>A	ENST00000313599.3	-	10	2540	c.2483C>T	c.(2482-2484)gCt>gTt	p.A828V	CD163L1_ENST00000416109.2_Missense_Mutation_p.A838V|CD163L1_ENST00000544331.1_5'UTR|CD163L1_ENST00000396630.1_Missense_Mutation_p.A828V			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	828	SRCR 8.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CACATTGGCAGCATGAAGAGA	0.483													3	101					0	0	1	0	0	A	7528499	G	A	7528499	3	1	150	1	0	0	0	0	1	0	0	0	2990	971	34	2	1918	2	CD163L1	12	7528499	Missense_Mutation	SNP	G	TCGA-G9-7510-01A-11D-2260-08		7528499	126323396	26	7136											
CLEC12B	387837	broad.mit.edu	37	chr12	10163422	10163422	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctggagcaaggaataacCgagatggaaataacctaaga	17	6	11	7	1	0	2	0	0	0	2	0	6	0	5	2	3	4	2	2	3	6	3	rs145803876		TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr12:10163422C>T	ENST00000396502.1	+	1	192	c.64C>T	c.(64-66)Cga>Tga	p.R22*	CLEC12B_ENST00000338896.5_Nonsense_Mutation_p.R22*|CLEC1B_ENST00000428126.2_5'UTR	NM_205852.2	NP_995324.2	Q2HXU8	CL12B_HUMAN	C-type lectin domain family 12, member B	22						integral to membrane|plasma membrane	receptor activity|sugar binding			central_nervous_system(2)|large_intestine(2)|lung(5)	9						AAGGAATAACCGAGATGGAAA	0.423													5	25					0	0	1	0	0	T	10163422	C	T	10163422	4	4	150	1	0	0	0	0	0	1	0	0	3521	644	23	1	66	1	CLEC12B	12	10163422	Nonsense_Mutation	SNP	C	TCGA-G9-7510-01A-11D-2260-08	2634923	10163422	123688473	27	7137											
AKAP6	9472	broad.mit.edu	37	chr14	33292152	33292152	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtgttacacaagaacaagatCccggaatcgaatgcatcgtt	14	9	9	9	3	0	2	0	0	0	2	3	4	1	3	1	1	3	3	1	1	6	2			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr14:33292152C>G	ENST00000280979.4	+	13	5303	c.5133C>G	c.(5131-5133)atC>atG	p.I1711M	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1711					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AGAACAAGATCCCGGAATCGA	0.458													9	89					0	0	1	0	0	G	33292152	C	G	33292152	3	3	150	1	0	0	0	0	1	0	0	0	452	845	30	4	5179	4	AKAP6	14	33292152	Missense_Mutation	SNP	C	TCGA-G9-7510-01A-11D-2260-08		33292152	74057388	28	7138											
PLA2G4E	123745	broad.mit.edu	37	chr15	42278134	42278134	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctggagttgacaaagaacGcagtgtccagcaggcacagg	13	5	14	9	1	0	2	0	1	0	1	1	3	1	3	1	3	3	5	1	3	2	1			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr15:42278134G>A	ENST00000399518.3	-	18	2591	c.2105C>T	c.(2104-2106)gCg>gTg	p.A702V	PLA2G4E_ENST00000413860.2_Missense_Mutation_p.A673V|CTD-2382E5.1_ENST00000499478.2_RNA	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	690	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		GACAAAGAACGCAGTGTCCAG	0.567													3	15					0	0	1	0	0	A	42278134	G	A	42278134	3	1	150	1	0	0	0	0	1	0	0	0	12053	1087	38	1	513	1	PLA2G4E	15	42278134	Missense_Mutation	SNP	G	TCGA-G9-7510-01A-11D-2260-08		42278134	60253258	29	7139											
IMP3	55272	broad.mit.edu	37	chr15	75931970	75931970	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccgctaggcttccagatcGaagtcatcgcgctcctcatt	8	11	8	14	4	2	1	2	0	0	1	7	2	5	1	3	1	0	3	3	1	2	3			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr15:75931970G>T	ENST00000314852.2	-	2	1483	c.540C>A	c.(538-540)ttC>ttA	p.F180L	IMP3_ENST00000403490.1_Missense_Mutation_p.F180L			Q9NV31	IMP3_HUMAN	IMP3, U3 small nucleolar ribonucleoprotein, homolog (yeast)	180					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding|rRNA binding			large_intestine(1)	1						CTTCCAGATCGAAGTCATCGC	0.532													8	58					1.12685e-05	1.19314e-05	1	1	0	T	75931970	G	T	75931970	3	4	150	1	0	0	0	0	1	0	0	0	7763	1049	37	4	18	4	IMP3	15	75931970	Missense_Mutation	SNP	G	TCGA-G9-7510-01A-11D-2260-08	33653836	75931970	26599422	30	7140											
GAN	8139	broad.mit.edu	37	chr16	81390408	81390408	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggtccacatgaaggatgttAtgtcagctctgtgggtttca	9	13	12	7	0	3	1	2	1	1	0	4	2	4	2	1	3	1	3	1	3	2	2			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr16:81390408A>T	ENST00000248272.3	+	4	814	c.652A>T	c.(652-654)Atg>Ttg	p.M218L		NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin	218	BACK.				cell death	cytoplasm|neurofilament	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				GAAGGATGTTATGTCAGCTCT	0.408													12	107					0	0	1	0	0	T	81390408	A	T	81390408	3	4	150	1	0	0	0	0	1	0	0	0	6272	449	16	5	666	5	GAN	16	81390408	Missense_Mutation	SNP	A	TCGA-G9-7510-01A-11D-2260-08		81390408	8964345	31	7141											
ZCCHC14	23174	broad.mit.edu	37	chr16	87451328	87451328	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgctctgcgaggacgggataCcagccactccacacacaggc	10	4	11	16	3	1	0	0	0	1	0	2	3	2	2	3	3	3	1	3	3	1	1			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr16:87451328C>G	ENST00000268616.4	-	8	927	c.710G>C	c.(709-711)gGt>gCt	p.G237A		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	237					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		GGACGGGATACCAGCCACTCC	0.682													4	17					0	0	1	0	0	G	87451328	C	G	87451328	3	3	150	1	0	0	0	0	1	0	0	0	17642	507	18	4	2163	4	ZCCHC14	16	87451328	Missense_Mutation	SNP	C	TCGA-G9-7510-01A-11D-2260-08	6060920	87451328	2903425	32	7142											
RNMTL1	55178	broad.mit.edu	37	chr17	685825	685825	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgaggccagtgcccaggaGcaacgagagaaacaaccgct	13	4	12	12	2	1	2	0	1	1	1	1	5	1	3	3	2	5	2	3	2	3	0			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr17:685825G>A	ENST00000304478.4	+	1	313	c.207G>A	c.(205-207)gaG>gaA	p.E69E		NM_018146.2	NP_060616.1	Q9HC36	RMTL1_HUMAN	RNA methyltransferase like 1	69					RNA processing		protein binding|RNA binding|RNA methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0219)		GTGCCCAGGAGCAACGAGAGA	0.617													3	17					0	0	1	0	0	A	685825	G	A	685825	2	1	150	1	0	0	0	0	0	0	0	1	13559	962	34	2		2	RNMTL1	17	685825	Silent	SNP	G	TCGA-G9-7510-01A-11D-2260-08		685825	80509385	33	7143											
TP53	7157	broad.mit.edu	37	chr17	7578271	7578271	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccttccactcggataagaTgctgaggaggggccagacct	9	9	12	11	1	0	3	0	1	0	2	3	5	2	5	4	4	1	1	4	4	1	3			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr17:7578271T>C	ENST00000420246.2	-	6	710	c.578A>G	c.(577-579)cAt>cGt	p.H193R	TP53_ENST00000269305.4_Missense_Mutation_p.H193R|TP53_ENST00000445888.2_Missense_Mutation_p.H193R|TP53_ENST00000359597.4_Missense_Mutation_p.H193R|TP53_ENST00000413465.2_Missense_Mutation_p.H193R|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.H193R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	193	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCGGATAAGATGCTGAGGAGG	0.562		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)			7	21					0	0	1	0	0	C	7578271	T	C	7578271	3	2	150	1	0	0	0	0	1	0	0	0	16442	1464	51	3	716	3	TP53	17	7578271	Missense_Mutation	SNP	T	TCGA-G9-7510-01A-11D-2260-08	6892446	7578271	73616939	34	7144											
DNAH2	146754	broad.mit.edu	37	chr17	7695606	7695606	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attttgtggaccccaaaataCggagttggacatcatttgag	12	12	10	7	1	1	1	1	1	0	0	1	4	1	4	2	3	1	1	2	3	3	5			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr17:7695606C>T	ENST00000572933.1	+	46	8550	c.7090C>T	c.(7090-7092)Cgg>Tgg	p.R2364W	DNAH2_ENST00000389173.2_Missense_Mutation_p.R2364W			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2364					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCCCAAAATACGGAGTTGGAC	0.537													4	73					0	0	1	0	0	T	7695606	C	T	7695606	3	4	150	1	0	0	0	0	1	0	0	0	4630	527	19	1	7268	1	DNAH2	17	7695606	Missense_Mutation	SNP	C	TCGA-G9-7510-01A-11D-2260-08	117335	7695606	73499604	35	7145											
KIF18B	146909	broad.mit.edu	37	chr17	43012683	43012683	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctggcgggcctccaggcGcctgtacagttccacggtgg	4	8	15	14	3	0	0	0	0	0	0	2	0	2	0	4	5	2	3	4	5	1	2			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr17:43012683G>A	ENST00000587309.1	-	3	438	c.415C>T	c.(415-417)Cgc>Tgc	p.R139C	KIF18B_ENST00000438933.2_Missense_Mutation_p.R139C|KIF18B_ENST00000339151.4_Missense_Mutation_p.R139C|KIF18B_ENST00000590129.1_Missense_Mutation_p.R148C|KIF18B_ENST00000593135.1_Missense_Mutation_p.R139C	NM_001264573.1	NP_001251503.1			kinesin family member 18B											breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				GCCTCCAGGCGCCTGTACAGT	0.657													3	25					0	0	1	0	0	A	43012683	G	A	43012683	3	1	150	1	0	0	0	0	1	0	0	0	8323	1087	38	1	2207	1	KIF18B	17	43012683	Missense_Mutation	SNP	G	TCGA-G9-7510-01A-11D-2260-08	35317077	43012683	38182527	36	7146											
HOXB5	3215	broad.mit.edu	37	chr17	46670614	46670614	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttagctggcttgccgctTcctcaggctccgaggacgcg	4	10	13	14	4	1	0	1	0	0	0	3	2	3	1	3	3	3	5	3	3	1	3			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr17:46670614T>G	ENST00000239151.5	-	1	709	c.431A>C	c.(430-432)gAa>gCa	p.E144A	HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000476204.1_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000465846.2_RNA	NM_002147.3	NP_002138.1	P09067	HXB5_HUMAN	homeobox B5	144						nucleus	sequence-specific DNA binding			large_intestine(1)|lung(2)	3						GCTTGCCGCTTCCTCAGGCTC	0.662													4	30					0	0	1	0	0	G	46670614	T	G	46670614	3	3	150	1	0	0	0	0	1	0	0	0	7345	1783	62	5	386	5	HOXB5	17	46670614	Missense_Mutation	SNP	T	TCGA-G9-7510-01A-11D-2260-08	3657931	46670614	34524596	37	7147											
SPOP	8405	broad.mit.edu	37	chr17	47696457	47696462	+	In_Frame_Del	DEL	TGCCCG	TGCCCG	-																															ttgccttgcacaaacctataTgcccgttgactctctggggt																										TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr17:47696457_47696462delTGCCCG	ENST00000393331.3	-	7	831_836	c.361_366delCGGGCA	c.(361-366)del	p.RA121del	SPOP_ENST00000503676.1_In_Frame_Del_p.RA121del|SPOP_ENST00000393328.2_In_Frame_Del_p.RA121del|SPOP_ENST00000347630.2_In_Frame_Del_p.RA121del|SPOP_ENST00000504102.1_In_Frame_Del_p.RA121del	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	121	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.R121Q(1)|p.A122delA(1)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CAAACCTATATGCCCGTTGACTCTCT	0.427										Prostate(2;0.17)			8	102	---	---	---	---						-	47696462	TGCCCG	-	47696457	7	5	150	1	0	1	0	1	0	0	0	0	15140	1451	51	0	782	0	SPOP	17	47696457	In_Frame_Del	DEL	TGCCCG	TCGA-G9-7510-01A-11D-2260-08	1025843	47696457	33498753	38	7148											
CPT1C	126129	broad.mit.edu	37	chr19	50204808	50204808	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggacttcgactggaccgcgGtcctggcgcaggaattcctg	7	8	14	12	4	0	0	0	0	0	0	3	4	2	3	3	5	0	1	3	5	1	2			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr19:50204808G>A	ENST00000392518.4	+	7	982	c.610G>A	c.(610-612)Gtc>Atc	p.V204I	CPT1C_ENST00000405931.2_Missense_Mutation_p.V204I|CPT1C_ENST00000354199.5_Missense_Mutation_p.V204I|CPT1C_ENST00000323446.5_Missense_Mutation_p.V204I|CPT1C_ENST00000598293.1_Missense_Mutation_p.V204I	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	204					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		CTGGACCGCGGTCCTGGCGCA	0.677													3	41					0	0	1	0	0	A	50204808	G	A	50204808	3	1	150	1	0	0	0	0	1	0	0	0	3856	1261	44	2	628	2	CPT1C	19	50204808	Missense_Mutation	SNP	G	TCGA-G9-7510-01A-11D-2260-08		50204808	8924175	39	7149											
NLRP4	147945	broad.mit.edu	37	chr19	56372782	56372782	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctcatctgttggcatcaCatctgctctgtgctcaccac	7	12	7	15	0	6	0	3	0	3	0	6	0	6	0	2	1	3	4	2	1	0	1			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr19:56372782C>A	ENST00000301295.6	+	4	2309	c.1887C>A	c.(1885-1887)caC>caA	p.H629Q	NLRP4_ENST00000587891.1_Missense_Mutation_p.H554Q|NLRP4_ENST00000346986.5_Missense_Mutation_p.H629Q	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	629							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GTTGGCATCACATCTGCTCTG	0.562													7	52					0.00448238	0.00465478	1	1	0	A	56372782	C	A	56372782	3	1	150	1	0	0	0	0	1	0	0	0	10526	477	17	4	1897	4	NLRP4	19	56372782	Missense_Mutation	SNP	C	TCGA-G9-7510-01A-11D-2260-08	6167974	56372782	2756201	40	7150											
CDC25B	994	broad.mit.edu	37	chr20	3778319	3778319	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcttccgcagccgcagccGcctgacgcacctatccctgt	5	8	9	19	4	1	1	0	1	1	0	3	1	3	1	6	0	2	4	6	0	1	2			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr20:3778319G>A	ENST00000245960.5	+	2	948	c.251G>A	c.(250-252)cGc>cAc	p.R84H	CDC25B_ENST00000340833.4_Missense_Mutation_p.R84H|CDC25B_ENST00000379598.5_Missense_Mutation_p.R20H|CDC25B_ENST00000439880.2_Missense_Mutation_p.R70H|CDC25B_ENST00000344256.6_Missense_Mutation_p.R20H|CDC25B_ENST00000467519.1_3'UTR	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	84					cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation	cytosol|microtubule organizing center|nucleoplasm	protein binding|protein tyrosine phosphatase activity			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						AGCCGCAGCCGCCTGACGCAC	0.622													3	106					0	0	1	0	0	A	3778319	G	A	3778319	3	1	150	1	0	0	0	0	1	0	0	0	3085	1087	38	1	257	1	CDC25B	20	3778319	Missense_Mutation	SNP	G	TCGA-G9-7510-01A-11D-2260-08		3778319	59247201	41	7151											
COL18A1	80781	broad.mit.edu	37	chr21	46888376	46888377	+	Frame_Shift_Del	DEL	CG	CG	-																															gagggcccaggggtgctgttCgccatcacggactcggcgca																										TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr21:46888376_46888377delCG	ENST00000359759.4	+	2	1593_1594	c.1572_1573delCG	c.(1570-1575)ttccfs	p.FA524fs	COL18A1_ENST00000355480.5_Frame_Shift_Del_p.FA289fs|COL18A1_ENST00000400337.2_Frame_Shift_Del_p.FA109fs			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	524	TSP N-terminal.				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GGGTGCTGTTCGCCATCACGGA	0.639													10	144	---	---	---	---						-	46888377	CG	-	46888376	7	5	150	1	0	1	0	1	0	0	0	0	3698	883	31	0	1692	0	COL18A1	21	46888376	Frame_Shift_Del	DEL	CG	TCGA-G9-7510-01A-11D-2260-08		46888376	1241519	42	7152											
TTC38	55020	broad.mit.edu	37	chr22	46685404	46685404	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaccctgaccgcgtcctggaGctgctcctgcccatccgcta	6	8	9	18	3	0	1	0	1	0	0	3	2	3	2	6	1	4	3	6	1	2	1			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chr22:46685404G>A	ENST00000381031.3	+	12	1264	c.1188G>A	c.(1186-1188)gaG>gaA	p.E396E	TTC38_ENST00000445282.2_Silent_p.E338E	NM_017931.2	NP_060401.2	Q5R3I4	TTC38_HUMAN	tetratricopeptide repeat domain 38	396							binding			endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						GCGTCCTGGAGCTGCTCCTGC	0.711													10	60					0	0	1	0	0	A	46685404	G	A	46685404	2	1	150	1	0	0	0	0	0	0	0	1	16768	962	34	2		2	TTC38	22	46685404	Silent	SNP	G	TCGA-G9-7510-01A-11D-2260-08		46685404	4619162	43	7153											
HUWE1	10075	broad.mit.edu	37	chrX	53618049	53618049	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtgttcaacagtgcctccaTtgcatgttcccttgtgaagc	7	13	10	11	0	1	1	1	1	0	0	3	1	3	1	3	1	4	3	3	1	2	4			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chrX:53618049T>C	ENST00000342160.3	-	33	4463	c.4006A>G	c.(4006-4008)Atg>Gtg	p.M1336V	HUWE1_ENST00000262854.6_Missense_Mutation_p.M1336V|HUWE1_ENST00000218328.8_Missense_Mutation_p.M1336V			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1336	UBA.				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						AGTGCCTCCATTGCATGTTCC	0.468													4	12					0	0	1	0	0	C	53618049	T	C	53618049	3	2	150	1	0	0	0	0	1	0	0	0	7505	1493	52	3	9322	3	HUWE1	23	53618049	Missense_Mutation	SNP	T	TCGA-G9-7510-01A-11D-2260-08		53618049	101652511	44	7154											
HMGB3	3149	broad.mit.edu	37	chrX	150156360	150156360	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagaggaggaggaagaagaGgaggaggaggaggaggagga	17	0	24	0	0	0	3	0	0	0	3	0	14	0	13	0	10	0	0	0	10	3	0			TCGA-G9-7510-01A-11D-2260-08	TCGA-G9-7510-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a7ebb7c-bb87-4bc6-8d42-00dffd9591e1	98899bed-24c3-494b-83c6-27e994e986c1	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443													3	30					0	0	1	0	0	A	150156360	G	A	150156360	2	1	150	1	0	0	0	0	0	0	0	1	7268	991	35	2		2	HMGB3	23	150156360	Silent	SNP	G	TCGA-G9-7510-01A-11D-2260-08	96538311	150156360	5114200	45	7155											
TEKT2	27285	broad.mit.edu	37	chr1	36553404	36553404	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaagcagaagctggcgcaaGcacagtaggtctcgggagtg	11	6	16	8	2	1	2	0	1	1	1	2	3	1	3	0	3	3	5	0	3	4	1			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr1:36553404G>A	ENST00000207457.3	+	9	1202	c.1075G>A	c.(1075-1077)Gca>Aca	p.A359T		NM_014466.2	NP_055281.2	Q9UIF3	TEKT2_HUMAN	tektin 2 (testicular)	359					cell projection organization|microtubule cytoskeleton organization	actin cytoskeleton|cilium axoneme|flagellar axoneme|focal adhesion|microtubule|nucleolus				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCTGGCGCAAGCACAGTAGGT	0.632													4	31					0	0	1	0	0	A	36553404	G	A	36553404	3	1	151	1	0	0	0	0	1	0	0	0	15812	971	34	2	1105	2	TEKT2	1	36553404	Missense_Mutation	SNP	G	TCGA-G9-7519-01A-11D-2260-08		36553404	212697217	1	7156											
NES	10763	broad.mit.edu	37	chr1	156647011	156647011	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaggcctccaggcgccgatTgagctcccacatctgaaacg	9	7	11	14	3	1	2	0	2	1	0	3	3	3	2	4	2	2	2	4	2	2	2			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr1:156647011T>C	ENST00000368223.3	-	1	178	c.46A>G	c.(46-48)Aat>Gat	p.N16D		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	16	Coil 1A.|Rod.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGGCGCCGATTGAGCTCCCAC	0.672													5	28					0	0	1	0	0	C	156647011	T	C	156647011	3	2	151	1	0	0	0	0	1	0	0	0	10384	1812	63	3	4835	3	NES	1	156647011	Missense_Mutation	SNP	T	TCGA-G9-7519-01A-11D-2260-08	120093607	156647011	92603610	2	7157											
CD1A	909	broad.mit.edu	37	chr1	158226847	158226847	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagggccaggacatcgtcctCtactggggtgagaaaaagct	11	7	14	9	1	1	1	0	1	1	1	3	4	2	2	2	4	2	1	2	4	3	1			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr1:158226847C>T	ENST00000289429.5	+	4	1409	c.876C>T	c.(874-876)ctC>ctT	p.L292L		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	292					antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	ACATCGTCCTCTACTGGGGTG	0.567													5	60					0	0	1	0	0	T	158226847	C	T	158226847	2	4	151	1	0	0	0	0	0	0	0	1	2996	900	32	2		2	CD1A	1	158226847	Silent	SNP	C	TCGA-G9-7519-01A-11D-2260-08	1579836	158226847	91023774	3	7158											
ATAD2B	54454	broad.mit.edu	37	chr2	24011409	24011409	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttccttcgtggtggagccaTtgatgcctgattgagaatca	8	14	11	8	1	1	3	1	3	0	1	3	5	2	4	3	2	2	0	3	2	1	4			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr2:24011409T>C	ENST00000238789.5	-	20	3092	c.2749A>G	c.(2749-2751)Atg>Gtg	p.M917V	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	917							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTGGAGCCATTGATGCCTGA	0.363													12	48					0	0	1	0	0	C	24011409	T	C	24011409	3	2	151	1	0	0	0	0	1	0	0	0	1071	1493	52	3	1663	3	ATAD2B	2	24011409	Missense_Mutation	SNP	T	TCGA-G9-7519-01A-11D-2260-08		24011409	219187964	4	7159											
TTN	7273	broad.mit.edu	37	chr2	179435785	179435785	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggtgggtttcttccactgaAgagtcacagaattccttgtg	9	13	11	8	0	2	3	1	1	1	2	4	3	4	3	2	2	0	1	2	2	2	4	rs3731743		TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr2:179435785A>C	ENST00000589042.1	-	326	75298	c.75074T>G	c.(75073-75075)cTt>cGt	p.L25025R	TTN_ENST00000359218.5_Missense_Mutation_p.L16085R|TTN_ENST00000342992.6_Missense_Mutation_p.L22457R|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L23384R|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L15960R|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L16152R|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23384	Ig-like 123.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTCCACTGAAGAGTCACAGA	0.468													3	170					0	0	1	0	0	C	179435785	A	C	179435785	3	2	151	1	0	0	0	0	1	0	0	0	16797	72	3	5	33053	5	TTN	2	179435785	Missense_Mutation	SNP	A	TCGA-G9-7519-01A-11D-2260-08	155424376	179435785	63763588	5	7160											
PIKFYVE	200576	broad.mit.edu	37	chr2	209142388	209142388	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggcagattttctgcagtcGttgctgtaatcaagaaatcc	10	13	10	8	1	2	2	1	0	1	2	4	2	3	2	1	1	2	5	1	1	3	4	rs112183241		TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr2:209142388G>C	ENST00000264380.4	+	5	727	c.569G>C	c.(568-570)cGt>cCt	p.R190P	PIKFYVE_ENST00000407449.1_Missense_Mutation_p.R190P|PIKFYVE_ENST00000392202.3_Intron|PIKFYVE_ENST00000308862.6_Intron	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	190					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TTCTGCAGTCGTTGCTGTAAT	0.383													4	129					0	0	1	0	0	C	209142388	G	C	209142388	3	2	151	1	0	0	0	0	1	0	0	0	11972	1145	40	4	583	4	PIKFYVE	2	209142388	Missense_Mutation	SNP	G	TCGA-G9-7519-01A-11D-2260-08	29706603	209142388	34056985	6	7161											
SLC4A7	9497	broad.mit.edu	37	chr3	27472797	27472798	+	Frame_Shift_Del	DEL	AA	AA	-																															ttggatagttgcctggagttAagtcaacattttcctcattc																										TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr3:27472797_27472798delAA	ENST00000295736.5	-	7	1184_1185	c.1114_1115delTT	c.(1114-1116)afs	p.L372fs	SLC4A7_ENST00000388777.4_5'UTR|SLC4A7_ENST00000435667.2_Intron|SLC4A7_ENST00000437179.1_Intron|SLC4A7_ENST00000428386.1_Intron|SLC4A7_ENST00000445684.1_Frame_Shift_Del_p.L368fs|SLC4A7_ENST00000446700.1_Frame_Shift_Del_p.L364fs|SLC4A7_ENST00000425128.2_Frame_Shift_Del_p.L364fs|SLC4A7_ENST00000440156.1_Frame_Shift_Del_p.L368fs|SLC4A7_ENST00000455077.1_Intron|SLC4A7_ENST00000454389.1_Frame_Shift_Del_p.L381fs	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	372						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						GCCTGGAGTTAAGTCAACATTT	0.455													20	93	---	---	---	---						-	27472798	AA	-	27472797	7	5	151	1	0	1	0	1	0	0	0	0	14713	372	13	0	2605	0	SLC4A7	3	27472797	Frame_Shift_Del	DEL	AA	TCGA-G9-7519-01A-11D-2260-08		27472797	170549633	7	7162											
CSRNP1	64651	broad.mit.edu	37	chr3	39188103	39188105	+	In_Frame_Del	DEL	GAG	GAG	-																															gagactggcacccagaggaaGaggaggaggaggagaccgag																										TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr3:39188103_39188105delGAG	ENST00000273153.5	-	2	246_248	c.69_71delCTC	c.(67-72)tct>tc	p.SS25del	CSRNP1_ENST00000514182.1_In_Frame_Del_p.SS25del	NM_033027.3	NP_149016.2	Q96S65	CSRN1_HUMAN	cysteine-serine-rich nuclear protein 1	25	Ser-rich.				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						CCCAGAGGAAGAGGAGGAGGAGG	0.616													2	4	---	---	---	---						-	39188105	GAG	-	39188103	7	5	151	1	0	1	0	1	0	0	0	0	3988	942	33	0	1714	0	CSRNP1	3	39188103	In_Frame_Del	DEL	GAG	TCGA-G9-7519-01A-11D-2260-08	11715306	39188103	158834327	8	7163											
CADPS	8618	broad.mit.edu	37	chr3	62478078	62478078	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaaagagtgacaggaacGtctccgcatgctccaccatt	11	8	9	13	2	1	2	0	1	1	1	3	3	2	3	3	1	3	3	3	1	2	1			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr3:62478078G>A	ENST00000383710.4	-	20	3120	c.2771C>T	c.(2770-2772)aCg>aTg	p.T924M	CADPS_ENST00000357948.3_Missense_Mutation_p.T894M|CADPS_ENST00000283269.9_Missense_Mutation_p.T934M	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	924	Interaction with DRD2.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	p.T934M(1)|p.T924M(1)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TGACAGGAACGTCTCCGCATG	0.448													7	510					0	0	1	0	0	A	62478078	G	A	62478078	3	1	151	1	0	0	0	0	1	0	0	0	2588	1145	40	1	1334	1	CADPS	3	62478078	Missense_Mutation	SNP	G	TCGA-G9-7519-01A-11D-2260-08	23289975	62478078	135544352	9	7164											
ABI3BP	25890	broad.mit.edu	37	chr3	100497211	100497211	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgggtggcaagggtgggCggcgagtccctgggattgtg	4	9	21	7	2	1	0	0	0	1	0	2	2	2	1	1	6	0	1	1	6	1	1			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr3:100497211C>T	ENST00000471714.1	-	58	4332	c.4223G>A	c.(4222-4224)cGc>cAc	p.R1408H	ABI3BP_ENST00000383691.4_Missense_Mutation_p.R660H|ABI3BP_ENST00000284322.5_Missense_Mutation_p.R706H			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	706						extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						CAAGGGTGGGCGGCGAGTCCC	0.403													6	33					0	0	1	0	0	T	100497211	C	T	100497211	3	4	151	1	0	0	0	0	1	0	0	0	91	768	27	1	1150	1	ABI3BP	3	100497211	Missense_Mutation	SNP	C	TCGA-G9-7519-01A-11D-2260-08	38019133	100497211	97525219	10	7165											
TIFA	92610	broad.mit.edu	37	chr4	113199473	113199473	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttctctctgttaaaacttaTtgactgaaatattccacact	12	17	3	9	0	2	2	0	2	2	0	4	2	3	2	1	0	1	1	1	0	5	6			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr4:113199473T>C	ENST00000361717.2	-	2	381	c.100A>G	c.(100-102)Ata>Gta	p.I34V	TIFA_ENST00000500655.2_Missense_Mutation_p.I34V	NM_052864.2	NP_443096.1	Q96CG3	TIFA_HUMAN	TRAF-interacting protein with forkhead-associated domain	34							protein binding			breast(2)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)	6		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00172)		TTAAAACTTATTGACTGAAAT	0.428													46	121					0	0	1	0	0	C	113199473	T	C	113199473	3	2	151	1	0	0	0	0	1	0	0	0	15954	1493	52	3	458	3	TIFA	4	113199473	Missense_Mutation	SNP	T	TCGA-G9-7519-01A-11D-2260-08		113199473	77954803	11	7166											
SLC9A3	6550	broad.mit.edu	37	chr5	480012	480012	+	Frame_Shift_Del	DEL	T	T	-																															ggaagacattcaggatccggTctcgagacttctgggccgac																										TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr5:480012delT	ENST00000264938.3	-	10	1595	c.1586delA	c.(1585-1587)gcfs	p.D529fs	CTD-2228K2.7_ENST00000606288.1_RNA|CTD-2228K2.7_ENST00000607005.1_RNA|SLC9A3_ENST00000514375.1_Frame_Shift_Del_p.D520fs|CTD-2228K2.7_ENST00000607286.1_RNA	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	529						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CAGGATCCGGTCTCGAGACTT	0.607													9	130	---	---	---	---						-	480012	T	-	480012	7	5	151	1	0	1	0	1	0	0	0	0	14768	1667	58	0	950	0	SLC9A3	5	480012	Frame_Shift_Del	DEL	T	TCGA-G9-7519-01A-11D-2260-08		480012	180435248	12	7167											
RPL10A	4736	broad.mit.edu	37	chr6	35438057	35438057	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggaaagttcccttccctgCtcacacacaacgaaaacatg	14	7	6	14	1	1	0	1	0	0	0	3	2	3	1	2	1	3	2	2	1	4	2			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr6:35438057C>T	ENST00000322203.6	+	5	439	c.412C>T	c.(412-414)Ctc>Ttc	p.L138F	RPL10A_ENST00000467020.1_3'UTR	NM_007104.4	NP_009035.3	P62906	RL10A_HUMAN	ribosomal protein L10a	138					anatomical structure morphogenesis|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	RNA binding|structural constituent of ribosome			breast(1)|large_intestine(2)|ovary(1)	4						CCCTTCCCTGCTCACACACAA	0.488													7	28					0	0	1	0	0	T	35438057	C	T	35438057	3	4	151	1	0	0	0	0	1	0	0	0	13607	797	28	2	430	2	RPL10A	6	35438057	Missense_Mutation	SNP	C	TCGA-G9-7519-01A-11D-2260-08		35438057	135677010	13	7168											
PHF3	23469	broad.mit.edu	37	chr6	64394235	64394235	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaaggtgcagccgaaatagCggacaaattgaagtggtacc	15	6	13	7	2	0	2	0	1	0	1	0	4	0	3	2	3	4	2	2	3	6	3	rs79636606	byFrequency	TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr6:64394235C>T	ENST00000262043.3	+	4	952	c.612C>T	c.(610-612)agC>agT	p.S204S	PHF3_ENST00000509330.1_Silent_p.S204S|PHF3_ENST00000393387.1_Silent_p.S204S			Q92576	PHF3_HUMAN	PHD finger protein 3	204					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GCCGAAATAGCGGACAAATTG	0.403													4	82					0	0	1	0	0	T	64394235	C	T	64394235	2	4	151	1	0	0	0	0	0	0	0	1	11884	767	27	1		1	PHF3	6	64394235	Silent	SNP	C	TCGA-G9-7519-01A-11D-2260-08	28956178	64394235	106720832	14	7169											
EYA4	2070	broad.mit.edu	37	chr6	133844247	133844247	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaactgatcccagcacttgCgaaggttctactctatagtt	10	13	7	11	1	3	1	1	1	2	0	4	2	4	1	1	1	4	3	1	1	5	6			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr6:133844247C>T	ENST00000367895.5	+	18	2134	c.1670C>T	c.(1669-1671)gCg>gTg	p.A557V	RP3-323P13.2_ENST00000607033.1_RNA|EYA4_ENST00000431403.2_Missense_Mutation_p.A557V|EYA4_ENST00000430974.2_Missense_Mutation_p.A509V|EYA4_ENST00000452339.2_Missense_Mutation_p.A503V|EYA4_ENST00000531901.1_Missense_Mutation_p.A563V|EYA4_ENST00000355286.6_Missense_Mutation_p.A534V|EYA4_ENST00000525849.1_Missense_Mutation_p.A534V|EYA4_ENST00000355167.3_Missense_Mutation_p.A557V	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	557					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		CCAGCACTTGCGAAGGTTCTA	0.338													13	90					0	0	1	0	0	T	133844247	C	T	133844247	3	4	151	1	0	0	0	0	1	0	0	0	5359	768	27	1	1736	1	EYA4	6	133844247	Missense_Mutation	SNP	C	TCGA-G9-7519-01A-11D-2260-08	69450012	133844247	37270820	15	7170											
LPA	4018	broad.mit.edu	37	chr6	161020597	161020597	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atagatgaccaagcttggcaAgttcttcctgtgacagtggt	10	12	11	8	0	1	3	0	2	1	1	2	3	2	3	2	2	1	3	2	2	3	4			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr6:161020597A>G	ENST00000447678.1	-	21	3342	c.3222T>C	c.(3220-3222)acT>acC	p.T1074T	LPA_ENST00000316300.5_Silent_p.T1074T	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3582	Kringle 10.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	AAGCTTGGCAAGTTCTTCCTG	0.498													5	516					0	0	1	0	0	G	161020597	A	G	161020597	2	3	151	1	0	0	0	0	0	0	0	1	8948	59	3	3		3	LPA	6	161020597	Silent	SNP	A	TCGA-G9-7519-01A-11D-2260-08	27176350	161020597	10094470	16	7171											
SEMA3D	223117	broad.mit.edu	37	chr7	84628811	84628811	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctctgtgatgtcttcgatttCgtttcttcttcatttcctgc	3	21	6	11	2	5	1	1	1	4	0	8	2	6	1	1	0	1	1	1	0	0	6			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr7:84628811C>T	ENST00000284136.6	-	17	2322	c.2279G>A	c.(2278-2280)cGa>cAa	p.R760Q	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	760	Arg/Lys-rich (basic).				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	p.R760Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TCTTCGATTTCGTTTCTTCTT	0.453													15	45					0	0	1	0	0	T	84628811	C	T	84628811	3	4	151	1	0	0	0	0	1	0	0	0	14081	884	31	1	58	1	SEMA3D	7	84628811	Missense_Mutation	SNP	C	TCGA-G9-7519-01A-11D-2260-08		84628811	74509852	17	7172											
ARHGEF5	7984	broad.mit.edu	37	chr7	144070332	144070332	+	Frame_Shift_Del	DEL	A	A	-																															gtccagagtatgcgacggacAgaggaactaatctacctgag																										TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr7:144070332delA	ENST00000056217.5	+	10	4269	c.4095delA	c.(4093-4095)acfs	p.T1365fs	ARHGEF5_ENST00000471847.2_Frame_Shift_Del_p.T287fs	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	1365					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					TGCGACGGACAGAGGAACTAA	0.522													18	201	---	---	---	---						-	144070332	A	-	144070332	7	5	151	1	0	1	0	1	0	0	0	0	906	175	7	0	4129	0	ARHGEF5	7	144070332	Frame_Shift_Del	DEL	A	TCGA-G9-7519-01A-11D-2260-08	59441521	144070332	15068331	18	7173											
MTERFD1	51001	broad.mit.edu	37	chr8	97269341	97269341	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatggaggcaattcatccagTtctttgaaagagagaaacaa	17	9	9	6	0	2	3	1	1	1	2	3	5	3	4	1	2	1	2	1	2	5	3			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr8:97269341T>C	ENST00000523821.1	-	3	455	c.334_splice	c.e3-1	p.E112_splice	MTERFD1_ENST00000287025.3_Splice_Site_p.E112_splice|MTERFD1_ENST00000522822.1_5'UTR			Q96E29	MTER1_HUMAN	MTERF domain containing 1	112					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					ATTCATCCAGTTCTTTGAAAG	0.408													4	77					0	0	1	0	0	C	97269341	T	C	97269341	5	2	151	1	0	0	0	0	0	0	1	0	9967	1739	60	3	941	3	MTERFD1	8	97269341	Splice_Site	SNP	T	TCGA-G9-7519-01A-11D-2260-08		97269341	49094681	19	7174											
UBR5	51366	broad.mit.edu	37	chr8	103291368	103291368	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtcatggagtctgaacgtcGgaaaaatggatggttttggc	10	12	14	5	2	2	1	1	1	1	0	3	4	2	4	0	5	1	1	0	5	3	2			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr8:103291368G>A	ENST00000520539.1	-	43	6676	c.6070C>T	c.(6070-6072)Cga>Tga	p.R2024*	UBR5_ENST00000521922.1_Nonsense_Mutation_p.R2018*|UBR5_ENST00000220959.4_Nonsense_Mutation_p.R2024*	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2024					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TCTGAACGTCGGAAAAATGGA	0.423													10	107					0	0	1	0	0	A	103291368	G	A	103291368	4	1	151	1	0	0	0	0	0	1	0	0	16966	1124	39	1	2397	1	UBR5	8	103291368	Nonsense_Mutation	SNP	G	TCGA-G9-7519-01A-11D-2260-08	6022027	103291368	43072654	20	7175											
IFNA4	3441	broad.mit.edu	37	chr9	21186979	21186979	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcaatccttcctccttaaTcttttttgcaagtttgttga	7	21	4	9	0	2	1	1	1	1	0	5	1	5	1	3	0	1	3	3	0	3	8			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr9:21186979T>C	ENST00000421715.1	-	1	619	c.552A>G	c.(550-552)agA>agG	p.R184R		NM_021068.2	NP_066546.1	P05014	IFNA4_HUMAN	interferon, alpha 4	184					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17				GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TCCTCCTTAATCTTTTTTGCA	0.388													7	197					0	0	1	0	0	C	21186979	T	C	21186979	2	2	151	1	0	0	0	0	0	0	0	1	7583	1432	50	3		3	IFNA4	9	21186979	Silent	SNP	T	TCGA-G9-7519-01A-11D-2260-08		21186979	120026452	21	7176											
TDRD1	56165	broad.mit.edu	37	chr10	115971690	115971690	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagaatctgtactggtcggaTatgtagattatggaaacttt	13	14	10	4	1	1	2	0	0	1	2	2	4	1	4	0	3	2	2	0	3	7	5			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr10:115971690T>C	ENST00000251864.2	+	14	1879	c.1726T>C	c.(1726-1728)Tat>Cat	p.Y576H	TDRD1_ENST00000422662.1_Intron|TDRD1_ENST00000369281.2_Intron|TDRD1_ENST00000369280.1_Missense_Mutation_p.Y576H|TDRD1_ENST00000369282.1_Missense_Mutation_p.Y576H	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	576	Tudor 2.				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		ACTGGTCGGATATGTAGATTA	0.393													5	81					0	0	1	0	0	C	115971690	T	C	115971690	3	2	151	1	0	0	0	0	1	0	0	0	15789	1406	49	3	1776	3	TDRD1	10	115971690	Missense_Mutation	SNP	T	TCGA-G9-7519-01A-11D-2260-08		115971690	19563057	22	7177											
PTPN5	84867	broad.mit.edu	37	chr11	18763990	18763990	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcggctcactgactggcGcctgtcctcagggggcagtg	4	8	16	13	2	2	1	2	1	0	0	3	1	3	1	2	5	0	2	2	5	0	0			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr11:18763990G>A	ENST00000396170.1	-	7	1712	c.448C>T	c.(448-450)Cgc>Tgc	p.R150C	PTPN5_ENST00000496201.2_5'UTR|PTPN5_ENST00000358540.2_Missense_Mutation_p.R182C|PTPN5_ENST00000396171.4_Missense_Mutation_p.R182C|PTPN5_ENST00000396167.2_Missense_Mutation_p.R150C|PTPN5_ENST00000477854.1_5'UTR|PTPN5_ENST00000396168.1_Missense_Mutation_p.R158C	NM_001278236.1	NP_001265165.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	182						integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						ACTGACTGGCGCCTGTCCTCA	0.632													8	63					0	0	1	0	0	A	18763990	G	A	18763990	3	1	151	1	0	0	0	0	1	0	0	0	12843	1087	38	1	1189	1	PTPN5	11	18763990	Missense_Mutation	SNP	G	TCGA-G9-7519-01A-11D-2260-08		18763990	116242526	23	7178											
LRP5	4041	broad.mit.edu	37	chr11	68216515	68216515	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctcttcccgccccctccgTccccctgcacggactcatcc	4	9	5	23	3	2	0	1	0	1	0	7	1	6	1	7	1	1	1	7	1	0	1			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr11:68216515T>C	ENST00000294304.7	+	23	4931	c.4825T>C	c.(4825-4827)Tcc>Ccc	p.S1609P	LRP5_ENST00000529481.1_3'UTR	NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1609	Pro-rich.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCCCCCTCCGTCCCCCTGCAC	0.582													3	129					0	0	1	0	0	C	68216515	T	C	68216515	3	2	151	1	0	0	0	0	1	0	0	0	9005	1667	58	3	4915	3	LRP5	11	68216515	Missense_Mutation	SNP	T	TCGA-G9-7519-01A-11D-2260-08	49452525	68216515	66790001	24	7179											
CLEC7A	64581	broad.mit.edu	37	chr12	10271128	10271128	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtcataaatgactgacaCgtgaatccatacacaatttg	14	12	7	8	1	1	3	1	3	0	0	2	3	2	3	1	1	1	0	1	1	5	4			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr12:10271128C>T	ENST00000353231.5	-	5	693	c.535G>A	c.(535-537)Gtg>Atg	p.V179M	CLEC7A_ENST00000304084.8_Missense_Mutation_p.V225M|CLEC7A_ENST00000298523.5_Missense_Mutation_p.R139H|CLEC7A_ENST00000533022.1_Missense_Mutation_p.R185H|CLEC7A_ENST00000396484.2_Missense_Mutation_p.V146M	NM_022570.4	NP_072092.2	Q9BXN2	CLC7A_HUMAN	C-type lectin domain family 7, member A	225	C-type lectin.				carbohydrate mediated signaling|defense response to protozoan|inflammatory response|innate immune response|phagocytosis, recognition|T cell activation	cytoplasm|integral to membrane	metal ion binding|MHC protein binding|sugar binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						ATGACTGACACGTGAATCCAT	0.378													11	112					0	0	1	0	0	T	10271128	C	T	10271128	3	4	151	1	0	0	0	0	1	0	0	0	3544	536	19	1	74	1	CLEC7A	12	10271128	Missense_Mutation	SNP	C	TCGA-G9-7519-01A-11D-2260-08		10271128	123580767	25	7180											
MFSD5	84975	broad.mit.edu	37	chr12	53647321	53647321	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cggcagcgtgccttctcaagGacctgtgctggaggcctgcg	5	8	15	13	3	1	0	1	0	1	0	2	2	1	2	3	4	4	2	3	4	1	1			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr12:53647321G>C	ENST00000534842.1	+	2	1170	c.1023G>C	c.(1021-1023)agG>agC	p.R341S	MFSD5_ENST00000329548.4_Missense_Mutation_p.R234S	NM_001170790.1	NP_001164261.1	Q6N075	MFSD5_HUMAN	major facilitator superfamily domain containing 5	234					transport	integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						CCTTCTCAAGGACCTGTGCTG	0.602													12	74					0	0	1	0	0	C	53647321	G	C	53647321	3	2	151	1	0	0	0	0	1	0	0	0	9584	1165	41	4	1029	4	MFSD5	12	53647321	Missense_Mutation	SNP	G	TCGA-G9-7519-01A-11D-2260-08	43376193	53647321	80204574	26	7181											
SRGAP1	57522	broad.mit.edu	37	chr12	64536384	64536384	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaaacctgctgttcttccaAaaacaaatcctaccatagga	16	9	4	12	0	1	0	0	0	1	0	3	1	3	1	4	1	4	2	4	1	7	4			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr12:64536384A>G	ENST00000355086.3	+	22	3714	c.3190A>G	c.(3190-3192)Aaa>Gaa	p.K1064E	SRGAP1_ENST00000543397.1_Missense_Mutation_p.K1001E|SRGAP1_ENST00000357825.3_Missense_Mutation_p.K1041E	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	1064					axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		TGTTCTTCCAAAAACAAATCC	0.522													4	90					0	0	1	0	0	G	64536384	A	G	64536384	3	3	151	1	0	0	0	0	1	0	0	0	15201	15	1	3	3276	3	SRGAP1	12	64536384	Missense_Mutation	SNP	A	TCGA-G9-7519-01A-11D-2260-08	10889063	64536384	69315511	27	7182											
MYO1H	283446	broad.mit.edu	37	chr12	109834250	109834250	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aactaaataaccatttcatcCtcatttctggagagagtggg	13	12	8	8	0	3	1	2	0	1	1	4	3	4	2	2	2	2	0	2	2	4	4			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr12:109834250C>G	ENST00000310903.5	+	4	410	c.304C>G	c.(304-306)Ctc>Gtc	p.L102V	MYO1H_ENST00000431443.2_Missense_Mutation_p.L102V			B4DNW6	B4DNW6_HUMAN	myosin IH	0						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						CCATTTCATCCTCATTTCTGG	0.458													4	40					0	0	1	0	0	G	109834250	C	G	109834250	3	3	151	1	0	0	0	0	1	0	0	0	10123	681	24	4	314	4	MYO1H	12	109834250	Missense_Mutation	SNP	C	TCGA-G9-7519-01A-11D-2260-08	45297866	109834250	24017645	28	7183											
FHOD1	29109	broad.mit.edu	37	chr16	67266040	67266040	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttaggccgatgttgatggCgttgctgcgcttggggtcca	4	12	17	8	3	0	1	0	1	0	0	1	2	1	1	2	5	2	5	2	5	1	4			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr16:67266040C>T	ENST00000258201.4	-	14	2351	c.2104G>A	c.(2104-2106)Gcc>Acc	p.A702T	FHOD1_ENST00000567687.1_Missense_Mutation_p.A281T	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	702	FH2.|Interaction with ROCK1.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		ATGTTGATGGCGTTGCTGCGC	0.562													6	74					0	0	1	0	0	T	67266040	C	T	67266040	3	4	151	1	0	0	0	0	1	0	0	0	5915	768	27	1	1426	1	FHOD1	16	67266040	Missense_Mutation	SNP	C	TCGA-G9-7519-01A-11D-2260-08		67266040	23088713	29	7184											
OR3A1	4994	broad.mit.edu	37	chr17	3195699	3195699	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaagaagtacatgggggTgtggagtttgggctccacca	10	8	16	7	0	0	1	0	0	0	1	1	3	1	3	2	5	1	3	2	5	3	2			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr17:3195699T>C	ENST00000323404.1	-	1	177	c.178A>G	c.(178-180)Acc>Gcc	p.T60A	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						TACATGGGGGTGTGGAGTTTG	0.562													3	42					0	0	1	0	0	C	3195699	T	C	3195699	3	2	151	1	0	0	0	0	1	0	0	0	11085	1696	59	3	773	3	OR3A1	17	3195699	Missense_Mutation	SNP	T	TCGA-G9-7519-01A-11D-2260-08		3195699	77999511	30	7185											
KRT31	3881	broad.mit.edu	37	chr17	39550306	39550306	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagggcccacagcgggggcGtggggcacagggtgtgcagg	6	3	22	10	2	0	0	0	0	0	0	0	0	0	0	1	7	2	3	1	7	0	0			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr17:39550306G>A	ENST00000251645.2	-	7	1265	c.1213C>T	c.(1213-1215)Cgc>Tgc	p.R405C		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	405	Tail.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				CAGCGGGGGCGTGGGGCACAG	0.642													6	67					0	0	1	0	0	A	39550306	G	A	39550306	3	1	151	1	0	0	0	0	1	0	0	0	8510	1145	40	1	41	1	KRT31	17	39550306	Missense_Mutation	SNP	G	TCGA-G9-7519-01A-11D-2260-08	36354607	39550306	41644904	31	7186											
TM6SF2	53345	broad.mit.edu	37	chr19	19379456	19379456	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caccatgttggcggtgcagcGggttagcgcccggggctggc	4	7	18	12	4	0	0	0	0	0	0	0	0	0	0	2	6	3	4	2	6	1	2			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr19:19379456G>A	ENST00000389363.4	-	6	664	c.592C>T	c.(592-594)Cgc>Tgc	p.R198C	AC138430.4_ENST00000586064.2_RNA	NM_001001524.2	NP_001001524.2	Q9BZW4	TM6S2_HUMAN	transmembrane 6 superfamily member 2	198						integral to membrane				breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14			Epithelial(12;0.0151)			GCGGTGCAGCGGGTTAGCGCC	0.577													4	53					0	0	1	0	0	A	19379456	G	A	19379456	3	1	151	1	0	0	0	0	1	0	0	0	16033	1116	39	1	561	1	TM6SF2	19	19379456	Missense_Mutation	SNP	G	TCGA-G9-7519-01A-11D-2260-08		19379456	39749527	32	7187											
KLK14	43847	broad.mit.edu	37	chr19	51582742	51582742	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agttccccagcctgacactcGgcaggaggtcccggggctgg	6	6	15	14	2	0	1	0	1	0	0	3	2	2	2	4	6	1	3	4	6	0	1			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr19:51582742G>A	ENST00000391802.1	-	5	696	c.478C>T	c.(478-480)Cga>Tga	p.R160*	KLK14_ENST00000156499.2_Nonsense_Mutation_p.R160*	NM_022046.4	NP_071329.2	Q9P0G3	KLK14_HUMAN	kallikrein-related peptidase 14	160	Peptidase S1.				epidermis morphogenesis|fertilization|negative regulation of G-protein coupled receptor protein signaling pathway|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis|seminal clot liquefaction	extracellular space	serine-type endopeptidase activity			kidney(4)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	11		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422)		CCTGACACTCGGCAGGAGGTC	0.662													4	42					0	0	1	0	0	A	51582742	G	A	51582742	4	1	151	1	0	0	0	0	0	1	0	0	8445	1124	39	1	337	1	KLK14	19	51582742	Nonsense_Mutation	SNP	G	TCGA-G9-7519-01A-11D-2260-08	32203286	51582742	7546241	33	7188											
MX1	4599	broad.mit.edu	37	chr21	42821112	42821112	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaatttgaaaatcagtatcGtggtagagagctgccaggct	13	10	12	6	1	1	2	1	1	0	1	2	4	1	2	1	2	2	4	1	2	5	3			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr21:42821112G>A	ENST00000398600.2	+	16	2347	c.1322G>A	c.(1321-1323)cGt>cAt	p.R441H	MX1_ENST00000398598.3_Missense_Mutation_p.R441H|MX1_ENST00000288383.6_Missense_Mutation_p.R418H|MX1_ENST00000455164.2_Missense_Mutation_p.R441H	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)	441					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				AATCAGTATCGTGGTAGAGAG	0.378													9	57					0	0	1	0	0	A	42821112	G	A	42821112	3	1	151	1	0	0	0	0	1	0	0	0	10045	1145	40	1	1360	1	MX1	21	42821112	Missense_Mutation	SNP	G	TCGA-G9-7519-01A-11D-2260-08		42821112	5308783	34	7189											
TFIP11	24144	broad.mit.edu	37	chr22	26899663	26899663	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcctctgagtcaaccacaGggaagtcttgcatggactga	10	10	10	11	0	3	2	1	2	2	0	4	4	4	4	2	2	2	1	2	2	2	2			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr22:26899663G>A	ENST00000407690.1	-	7	900	c.617C>T	c.(616-618)cCt>cTt	p.P206L	TFIP11_ENST00000407431.1_Missense_Mutation_p.P206L|TFIP11_ENST00000407148.1_Missense_Mutation_p.P206L|TFIP11_ENST00000405938.1_Missense_Mutation_p.P206L|TFIP11_ENST00000496523.1_5'UTR	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	206					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						GTCAACCACAGGGAAGTCTTG	0.493													28	61					0	0	1	0	0	A	26899663	G	A	26899663	3	1	151	1	0	0	0	0	1	0	0	0	15867	1000	35	2	1932	2	TFIP11	22	26899663	Missense_Mutation	SNP	G	TCGA-G9-7519-01A-11D-2260-08		26899663	24404903	35	7190											
KDELR3	0	broad.mit.edu	37	chr22	38877382	38877382	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggatcaggcggtaccagactGagaatttctatgaccaaatt	13	10	10	8	1	2	3	1	2	1	2	2	5	2	4	2	3	1	1	2	3	4	4			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chr22:38877382G>A	ENST00000216014.4	+	4	689	c.517G>A	c.(517-519)Gag>Aag	p.E173K	KDELR3_ENST00000471268.1_3'UTR|KDELR3_ENST00000409006.3_Missense_Mutation_p.E173K	NM_006855.2	NP_006846.1	O43731	ERD23_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3	173					protein retention in ER lumen|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	ER retention sequence binding|receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13	Melanoma(58;0.0286)					GTACCAGACTGAGAATTTCTA	0.478													3	106					0	0	1	0	0	A	38877382	G	A	38877382	3	1	151	1	0	0	0	0	1	0	0	0	8165	1291	45	2	531	2	KDELR3	22	38877382	Missense_Mutation	SNP	G	TCGA-G9-7519-01A-11D-2260-08	11977719	38877382	12427184	36	7191											
GPM6B	2824	broad.mit.edu	37	chrX	13798050	13798050	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaacataaacacgggcaccGctgagaaaccaaacacaccc	18	2	7	14	2	0	2	0	1	0	2	0	3	0	2	3	1	4	2	3	1	5	1			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chrX:13798050G>A	ENST00000454189.2	-	4	534	c.407C>T	c.(406-408)gCg>gTg	p.A136V	GPM6B_ENST00000356942.5_Missense_Mutation_p.A155V|GPM6B_ENST00000355135.2_Missense_Mutation_p.A195V|GPM6B_ENST00000316715.4_Missense_Mutation_p.A195V|GPM6B_ENST00000398361.3_Missense_Mutation_p.A69V|GPM6B_ENST00000493677.1_Missense_Mutation_p.A169V	NM_001001994.1	NP_001001994.1	Q13491	GPM6B_HUMAN	glycoprotein M6B	155					cell differentiation|nervous system development	integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|pancreas(1)	6						CACGGGCACCGCTGAGAAACC	0.502													3	95					0	0	1	0	0	A	13798050	G	A	13798050	3	1	151	1	0	0	0	0	1	0	0	0	6656	1087	38	1	503	1	GPM6B	23	13798050	Missense_Mutation	SNP	G	TCGA-G9-7519-01A-11D-2260-08		13798050	141472510	37	7192											
FAM47C	442444	broad.mit.edu	37	chrX	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctccgcccggagcctcccAatactggagtgtcccatctc	6	9	9	17	2	2	0	0	0	2	0	6	2	4	2	5	2	2	0	5	2	2	1	rs145580328	byFrequency	TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642													4	78					0	0	1	0	0	G	37028425	A	G	37028425	3	3	151	1	0	0	0	0	1	0	0	0	5607	130	5	3	1944	3	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-G9-7519-01A-11D-2260-08	23230375	37028425	118242135	38	7193											
FAM120C	54954	broad.mit.edu	37	chrX	54185950	54185950	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtagtaagagggaatattgtAgagagcatactcggagtcat	14	10	13	4	1	1	2	1	0	0	2	2	5	1	4	0	2	2	4	0	2	6	6			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chrX:54185950A>G	ENST00000375180.2	-	2	855	c.799T>C	c.(799-801)Tac>Cac	p.Y267H	FAM120C_ENST00000328235.4_Missense_Mutation_p.Y267H	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	267										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GGAATATTGTAGAGAGCATAC	0.483													3	45					0	0	1	0	0	G	54185950	A	G	54185950	3	3	151	1	0	0	0	0	1	0	0	0	5449	420	15	3	2551	3	FAM120C	23	54185950	Missense_Mutation	SNP	A	TCGA-G9-7519-01A-11D-2260-08	17157525	54185950	101084610	39	7194											
MED12	9968	broad.mit.edu	37	chrX	70349255	70349255	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggatggagccgtgtttgctGttctcaaggctgtgtttgta	5	16	14	6	1	1	0	1	0	1	0	2	2	1	2	1	3	2	6	1	3	2	4			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chrX:70349255G>C	ENST00000333646.6	+	26	3866	c.3667G>C	c.(3667-3669)Gtt>Ctt	p.V1223L	MED12_ENST00000374102.1_Missense_Mutation_p.V1223L|MED12_ENST00000374080.3_Missense_Mutation_p.V1223L	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1223					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CGTGTTTGCTGTTCTCAAGGC	0.572			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome				OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	20					0	0	1	0	0	C	70349255	G	C	70349255	3	2	151	1	0	0	0	0	1	0	0	0	9478	1377	48	4	3769	4	MED12	23	70349255	Missense_Mutation	SNP	G	TCGA-G9-7519-01A-11D-2260-08	16163305	70349255	84921305	40	7195											
DOCK11	139818	broad.mit.edu	37	chrX	117707777	117707778	+	Frame_Shift_Ins	INS	-	-	T																															ttcattcccaggttgagcccINSttttttatcaatcttgcctt																										TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chrX:117707777_117707778insT	ENST00000276204.6	+	12	1259_1260	c.1185_1186insT	c.(1183-1188)ccttttfs	p.PF395fs	DOCK11_ENST00000276202.7_Frame_Shift_Ins_p.PF395fs			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	395					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						AGGTTGAGCCCTTTTTTATCAA	0.411													17	90	---	---	---	---						T	117707778	-	T	117707777	7	5	151	1	0	1	1	0	0	0	0	0	4713	668	24	0	1231	0	DOCK11	23	117707777	Frame_Shift_Ins	INS	-	TCGA-G9-7519-01A-11D-2260-08	47358522	117707777	37562783	41	7196											
MAP7D3	79649	broad.mit.edu	37	chrX	135314292	135314292	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtattttcattgtcgacatgGgaaacataacagccctcaat	13	12	7	9	1	2	0	2	0	0	0	3	2	2	1	1	1	3	1	1	1	4	5			TCGA-G9-7519-01A-11D-2260-08	TCGA-G9-7519-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81dd038c-ba90-481c-90dc-c89b3048fc99	91e00401-e16e-4067-ae4d-28fce0a0425e	g.chrX:135314292G>T	ENST00000316077.9	-	8	1044	c.824C>A	c.(823-825)cCc>cAc	p.P275H	MAP7D3_ENST00000370663.5_Missense_Mutation_p.P257H|MAP7D3_ENST00000370661.1_Missense_Mutation_p.P240H	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	275						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					TGTCGACATGGGAAACATAAC	0.463													3	109					0.115264	0.115264	1	1	0	T	135314292	G	T	135314292	3	4	151	1	0	0	0	0	1	0	0	0	9319	1232	43	4	1850	4	MAP7D3	23	135314292	Missense_Mutation	SNP	G	TCGA-G9-7519-01A-11D-2260-08	17606515	135314292	19956268	42	7197											
PDPN	10630	broad.mit.edu	37	chr1	13940850	13940850	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttggggtcttactagccatCggcttcattggtgcaatcat	7	14	11	9	1	3	0	2	0	1	0	4	0	3	0	1	4	3	3	1	4	3	5			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr1:13940850C>T	ENST00000294489.6	+	5	995	c.654C>T	c.(652-654)atC>atT	p.I218I	PDPN_ENST00000475043.1_Silent_p.I100I|PDPN_ENST00000513143.1_Silent_p.I100I|PDPN_ENST00000487038.1_Silent_p.I100I|PDPN_ENST00000509009.1_Silent_p.I137I|PDPN_ENST00000376061.4_Silent_p.I100I|PDPN_ENST00000376057.4_Silent_p.I218I			Q86YL7	PDPN_HUMAN	podoplanin	142					cell morphogenesis|lymphangiogenesis|regulation of cell shape	filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane				endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		TACTAGCCATCGGCTTCATTG	0.433													34	68					0	0	1	0	0	T	13940850	C	T	13940850	2	4	152	1	0	0	0	0	0	0	0	1	11735	874	31	1		1	PDPN	1	13940850	Silent	SNP	C	TCGA-G9-7521-01A-11D-2260-08		13940850	235309771	1	7198											
DNALI1	7802	broad.mit.edu	37	chr1	38022567	38022567	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcccacactggacagggcaGctgctgggttgctactctcg	6	8	14	13	1	1	0	0	0	1	0	2	1	1	1	1	4	4	5	1	4	1	2			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr1:38022567G>A	ENST00000296218.7	+	1	48	c.38G>A	c.(37-39)aGc>aAc	p.S13N		NM_003462.3	NP_003453.2	O14645	IDLC_HUMAN	dynein, axonemal, light intermediate chain 1	0					cellular component movement|single fertilization	axonemal dynein complex	microtubule motor activity			breast(1)|kidney(1)|large_intestine(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGACAGGGCAGCTGCTGGGTT	0.647													3	102					0	0	1	0	0	A	38022567	G	A	38022567	3	1	152	1	0	0	0	0	1	0	0	0	4686	971	34	2	40	2	DNALI1	1	38022567	Missense_Mutation	SNP	G	TCGA-G9-7521-01A-11D-2260-08	24081717	38022567	211228054	2	7199											
QSOX1	5768	broad.mit.edu	37	chr1	180165946	180165946	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaggtcaggcgcgtgggccGcagctccaagcagctggtcg	6	5	18	12	4	1	0	1	0	0	0	3	1	2	1	2	5	3	4	2	5	1	0	rs144062716		TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr1:180165946G>A	ENST00000367602.3	+	12	2092	c.2018G>A	c.(2017-2019)cGc>cAc	p.R673H	QSOX1_ENST00000367600.5_Intron			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	673					cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CGCGTGGGCCGCAGCTCCAAG	0.677													3	69					0	0	1	0	0	A	180165946	G	A	180165946	3	1	152	1	0	0	0	0	1	0	0	0	12935	1087	38	1	2064	1	QSOX1	1	180165946	Missense_Mutation	SNP	G	TCGA-G9-7521-01A-11D-2260-08	142143379	180165946	69084675	3	7200											
MFSD6	54842	broad.mit.edu	37	chr2	191354580	191354580	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccagtggctggcagtgccaGatgaggaagaaggtaattat	12	9	14	6	0	0	3	0	1	0	2	1	4	1	4	2	4	1	3	2	4	4	2			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr2:191354580G>C	ENST00000392328.1	+	6	2203	c.1879G>C	c.(1879-1881)Gat>Cat	p.D627H	MFSD6_ENST00000535751.1_Missense_Mutation_p.D89H|MFSD6_ENST00000281416.7_Missense_Mutation_p.D627H	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	627					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						GGCAGTGCCAGATGAGGAAGA	0.478													3	55					0	0	1	0	0	C	191354580	G	C	191354580	3	2	152	1	0	0	0	0	1	0	0	0	9585	942	33	4	1893	4	MFSD6	2	191354580	Missense_Mutation	SNP	G	TCGA-G9-7521-01A-11D-2260-08		191354580	51844793	4	7201											
COL4A3	1285	broad.mit.edu	37	chr2	228159772	228159772	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtccagccggagaaaagggaGaaacgggtacaacttgctca	14	5	13	9	2	1	2	1	0	0	2	2	4	2	2	2	3	5	2	2	3	5	2			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr2:228159772G>A	ENST00000396578.3	+	40	3673	c.3511G>A	c.(3511-3513)Gaa>Aaa	p.E1171K	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1171	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		AGAAAAGGGAGAAACGGGTAC	0.418													3	64					0	0	1	0	0	A	228159772	G	A	228159772	3	1	152	1	0	0	0	0	1	0	0	0	3714	943	33	2	3669	2	COL4A3	2	228159772	Missense_Mutation	SNP	G	TCGA-G9-7521-01A-11D-2260-08	36805192	228159772	15039601	5	7202											
DNAH1	25981	broad.mit.edu	37	chr3	52412685	52412685	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accatcatggtgtatgcaacCatcacctcccagctgctgcc	9	9	7	16	0	2	0	2	0	0	0	3	0	3	0	5	1	5	4	5	1	2	1			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr3:52412685C>A	ENST00000420323.2	+	47	7527	c.7266C>A	c.(7264-7266)acC>acA	p.T2422T		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2422	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGTATGCAACCATCACCTCCC	0.602													74	194					2.28164e-27	2.58299e-27	1	1	0	A	52412685	C	A	52412685	2	1	152	1	0	0	0	0	0	0	0	1	4625	581	21	4		4	DNAH1	3	52412685	Silent	SNP	C	TCGA-G9-7521-01A-11D-2260-08		52412685	145609745	6	7203											
VGLL3	389136	broad.mit.edu	37	chr3	87027942	87027942	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgcatcttgctgaataccGctaacttcttctgggatgga	8	13	9	11	1	3	1	0	1	3	0	3	3	3	3	2	2	4	3	2	2	3	5			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr3:87027942G>A	ENST00000398399.2	-	2	500	c.137C>T	c.(136-138)gCg>gTg	p.A46V	VGLL3_ENST00000383698.3_Missense_Mutation_p.A46V	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN	vestigial like 3 (Drosophila)	46					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		GCTGAATACCGCTAACTTCTT	0.428													3	76					0	0	1	0	0	A	87027942	G	A	87027942	3	1	152	1	0	0	0	0	1	0	0	0	17220	1087	38	1	855	1	VGLL3	3	87027942	Missense_Mutation	SNP	G	TCGA-G9-7521-01A-11D-2260-08	34615257	87027942	110994488	7	7204											
CKMT2	1160	broad.mit.edu	37	chr5	80559388	80559388	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgtggacactgccgcggtcGcagatgtgtacgacatttcc	7	10	13	11	4	0	1	0	0	0	1	2	3	1	2	2	2	2	2	2	2	1	2			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr5:80559388G>A	ENST00000424301.2	+	10	1331	c.1093G>A	c.(1093-1095)Gca>Aca	p.A365T	CTC-281B15.1_ENST00000501927.2_RNA|CTC-281B15.1_ENST00000500148.2_RNA|CTC-281B15.1_ENST00000502041.2_RNA|CKMT2_ENST00000254035.4_Missense_Mutation_p.A365T|CTC-281B15.1_ENST00000503483.2_RNA|CTC-281B15.1_ENST00000512287.1_RNA|CTC-281B15.1_ENST00000511495.1_RNA|CKMT2_ENST00000437669.1_Missense_Mutation_p.A365T|CTC-281B15.1_ENST00000505295.1_RNA	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)	365	Phosphagen kinase C-terminal.				creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	TGCCGCGGTCGCAGATGTGTA	0.463													3	109					0	0	1	0	0	A	80559388	G	A	80559388	3	1	152	1	0	0	0	0	1	0	0	0	3474	1087	38	1	1123	1	CKMT2	5	80559388	Missense_Mutation	SNP	G	TCGA-G9-7521-01A-11D-2260-08		80559388	100355872	8	7205											
HNRNPA0	10949	broad.mit.edu	37	chr5	137089391	137089391	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctcggccttttccacggtgCcaaactgcgagaagtgctcg	7	10	11	13	4	1	1	0	0	1	1	4	2	2	1	3	2	4	1	3	2	2	2			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr5:137089391C>A	ENST00000314940.4	-	1	648	c.365G>T	c.(364-366)gGc>gTc	p.G122V		NM_006805.3	NP_006796.1	Q13151	ROA0_HUMAN	heterogeneous nuclear ribonucleoprotein A0	122	RRM 2.				nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|RNA binding			large_intestine(1)|lung(2)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTCCACGGTGCCAAACTGCGA	0.587													3	82					0.184627	0.184627	1	1	0	A	137089391	C	A	137089391	3	1	152	1	0	0	0	0	1	0	0	0	7297	739	26	4	556	4	HNRNPA0	5	137089391	Missense_Mutation	SNP	C	TCGA-G9-7521-01A-11D-2260-08	56530003	137089391	43825869	9	7206											
FAT2	2196	broad.mit.edu	37	chr5	150947501	150947501	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcctggcctggaggctgAggttgaacccatgaaggtac	9	8	13	11	0	0	3	0	3	0	0	1	4	1	4	3	5	2	3	3	5	3	2			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr5:150947501A>C	ENST00000261800.5	-	1	1004	c.992T>G	c.(991-993)cTc>cGc	p.L331R		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	331					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)			CTGGAGGCTGAGGTTGAACCC	0.493													5	230					0	0	1	0	0	C	150947501	A	C	150947501	3	2	152	1	0	0	0	0	1	0	0	0	5723	304	11	5	12149	5	FAT2	5	150947501	Missense_Mutation	SNP	A	TCGA-G9-7521-01A-11D-2260-08	13858110	150947501	29967759	10	7207											
ATP10B	23120	broad.mit.edu	37	chr5	160114977	160114977	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagttgtagctctgtctcccTttctctggagagagcagcgg	7	12	12	10	1	3	1	0	0	3	1	5	3	3	2	1	2	3	4	1	2	2	3			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr5:160114977T>C	ENST00000327245.5	-	5	951	c.105A>G	c.(103-105)aaA>aaG	p.K35K	ATP10B_ENST00000518411.1_5'UTR|CTC-529G1.1_ENST00000524198.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	35					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCTGTCTCCCTTTCTCTGGAG	0.552													3	158					0	0	1	0	0	C	160114977	T	C	160114977	2	2	152	1	0	0	0	0	0	0	0	1	1116	1606	56	3		3	ATP10B	5	160114977	Silent	SNP	T	TCGA-G9-7521-01A-11D-2260-08	9167476	160114977	20800283	11	7208											
NSD1	64324	broad.mit.edu	37	chr5	176720972	176720972	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaactggatgggcgtctgtcTtgtactgagcatgacccctg	8	11	12	10	1	2	2	0	2	2	0	2	3	2	3	2	2	3	2	2	2	2	2			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr5:176720972T>A	ENST00000439151.2	+	23	6648	c.6603T>A	c.(6601-6603)tcT>tcA	p.S2201S	NSD1_ENST00000361032.4_Silent_p.S2098S|NSD1_ENST00000354179.4_Silent_p.S1932S|NSD1_ENST00000347982.4_Silent_p.S1932S	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2201					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GGCGTCTGTCTTGTACTGAGC	0.567			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			35	51					0	0	1	0	0	A	176720972	T	A	176720972	2	1	152	1	0	0	0	0	0	0	0	1	10717	1596	56	5		5	NSD1	5	176720972	Silent	SNP	T	TCGA-G9-7521-01A-11D-2260-08	16605995	176720972	4194288	12	7209											
HIST1H2AG	8969	broad.mit.edu	37	chr6	27101129	27101129	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccatccgcaacgacgaggaGctcaacaagctgctgggcaa	12	4	12	13	3	1	0	1	0	0	0	2	3	2	1	2	2	5	5	2	2	4	0			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr6:27101129G>A	ENST00000359193.2	+	1	298	c.279G>A	c.(277-279)gaG>gaA	p.E93E		NM_021064.4	NP_066408.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ag	93					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	17						ACGACGAGGAGCTCAACAAGC	0.617													4	204					0	0	1	0	0	A	27101129	G	A	27101129	2	1	152	1	0	0	0	0	0	0	0	1	7174	962	34	2		2	HIST1H2AG	6	27101129	Silent	SNP	G	TCGA-G9-7521-01A-11D-2260-08		27101129	144013938	13	7210											
DNAH8	1769	broad.mit.edu	37	chr6	38830099	38830099	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttgggcatgaacatgggaGgtgctcccgcaggacctgct	7	8	14	12	1	0	1	0	1	0	0	1	3	1	3	3	4	3	4	3	4	1	1			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr6:38830099G>A	ENST00000359357.3	+	42	5778	c.5524G>A	c.(5524-5526)Ggt>Agt	p.G1842S	DNAH8_ENST00000449981.2_Missense_Mutation_p.G2059S|DNAH8_ENST00000441566.1_Missense_Mutation_p.G1842S					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GAACATGGGAGGTGCTCCCGC	0.473													3	136					0	0	1	0	0	A	38830099	G	A	38830099	3	1	152	1	0	0	0	0	1	0	0	0	4634	1000	35	2	5682	2	DNAH8	6	38830099	Missense_Mutation	SNP	G	TCGA-G9-7521-01A-11D-2260-08	11728970	38830099	132284968	14	7211											
WBSCR22	114049	broad.mit.edu	37	chr7	73112192	73112192	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctgacacccagtacaccggCcgcaagcgcaagccccgctt	9	4	9	19	4	0	1	0	1	0	0	0	1	0	1	6	1	3	4	6	1	3	2			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr7:73112192C>G	ENST00000265758.2	+	12	880	c.822C>G	c.(820-822)ggC>ggG	p.G274G	WBSCR22_ENST00000423166.2_Intron|WBSCR22_ENST00000423497.1_Silent_p.G291G	NM_017528.4	NP_059998.2	O43709	WBS22_HUMAN	Williams Beuren syndrome chromosome region 22	274						nucleus	methyltransferase activity			autonomic_ganglia(1)|large_intestine(2)|lung(9)|prostate(1)	13		Lung NSC(55;0.0908)|all_lung(88;0.198)				AGTACACCGGCCGCAAGCGCA	0.478													10	53					0	0	1	0	0	G	73112192	C	G	73112192	2	3	152	1	0	0	0	0	0	0	0	1	17325	726	26	4		4	WBSCR22	7	73112192	Silent	SNP	C	TCGA-G9-7521-01A-11D-2260-08		73112192	86026471	15	7212											
MOSPD3	64598	broad.mit.edu	37	chr7	100210601	100210601	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccctctataaccccacaggaActgcgcttcgcttccgaggt	8	9	8	16	3	1	0	0	0	1	0	3	2	2	1	4	2	3	2	4	2	3	4	rs143182268		TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr7:100210601A>T	ENST00000393950.2	+	1	469	c.187A>T	c.(187-189)Act>Tct	p.T63S	MOSPD3_ENST00000223054.4_Missense_Mutation_p.T63S|MOSPD3_ENST00000424091.2_Missense_Mutation_p.T63S|MOSPD3_ENST00000379527.2_Missense_Mutation_p.T63S	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN	motile sperm domain containing 3	63	MSP.					integral to membrane	structural molecule activity			breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCCCACAGGAACTGCGCTTCG	0.637													43	130					0	0	1	0	0	T	100210601	A	T	100210601	3	4	152	1	0	0	0	0	1	0	0	0	9766	43	2	5	189	5	MOSPD3	7	100210601	Missense_Mutation	SNP	A	TCGA-G9-7521-01A-11D-2260-08	27098409	100210601	58928062	16	7213											
ARMC10	83787	broad.mit.edu	37	chr7	102727086	102727086	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcccctcgtaggctattattCgtgaattgggtggtattcca	7	15	10	9	2	0	1	0	1	0	0	4	1	2	1	3	3	0	3	3	3	5	7			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr7:102727086C>T	ENST00000323716.3	+	4	795	c.403C>T	c.(403-405)Cgt>Tgt	p.R135C	ARMC10_ENST00000441711.2_Missense_Mutation_p.R100C|ARMC10_ENST00000454559.1_Missense_Mutation_p.R100C|ARMC10_ENST00000428183.2_Missense_Mutation_p.R135C|ARMC10_ENST00000425331.1_Missense_Mutation_p.R100C|ARMC10_ENST00000541300.1_Missense_Mutation_p.R100C	NM_031905.4	NP_114111.2	Q8N2F6	ARM10_HUMAN	armadillo repeat containing 10	135					regulation of growth	endoplasmic reticulum membrane|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	11						GGCTATTATTCGTGAATTGGG	0.358													9	103					0	0	1	0	0	T	102727086	C	T	102727086	3	4	152	1	0	0	0	0	1	0	0	0	949	884	31	1	417	1	ARMC10	7	102727086	Missense_Mutation	SNP	C	TCGA-G9-7521-01A-11D-2260-08	2516485	102727086	56411577	17	7214											
PDCL	5082	broad.mit.edu	37	chr9	125582653	125582653	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgacagctgggtactctgcgGcaaggcagatcatgcaacca	11	7	12	11	1	2	2	1	1	1	1	2	2	2	2	1	3	5	5	1	3	3	1			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr9:125582653G>A	ENST00000259467.4	-	4	782	c.617C>T	c.(616-618)gCc>gTc	p.A206V		NM_005388.4	NP_005379.3	Q13371	PHLP_HUMAN	phosducin-like	206					signal transduction|visual perception					endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10						GTACTCTGCGGCAAGGCAGAT	0.478													3	37					0	0	1	0	0	A	125582653	G	A	125582653	3	1	152	1	0	0	0	0	1	0	0	0	11673	1203	42	2	292	2	PDCL	9	125582653	Missense_Mutation	SNP	G	TCGA-G9-7521-01A-11D-2260-08		125582653	15630778	18	7215											
PSD	5662	broad.mit.edu	37	chr10	104165237	104165237	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccgctgatccgcttgatgAccttggggttggggtcggcc	3	10	15	13	3	0	3	0	3	0	0	2	3	1	3	5	5	0	3	5	5	0	3			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr10:104165237A>G	ENST00000020673.5	-	12	2718	c.2192T>C	c.(2191-2193)gTc>gCc	p.V731A	PSD_ENST00000406432.1_Missense_Mutation_p.V731A	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	731					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		CCGCTTGATGACCTTGGGGTT	0.662													29	45					0	0	1	0	0	G	104165237	A	G	104165237	3	3	152	1	0	0	0	0	1	0	0	0	12695	275	10	3	906	3	PSD	10	104165237	Missense_Mutation	SNP	A	TCGA-G9-7521-01A-11D-2260-08		104165237	31369510	19	7216											
OR51B4	79339	broad.mit.edu	37	chr11	5322889	5322889	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaatgaatgaaggattgggtGaaacaggcagcatgggcaat	15	7	15	4	0	0	3	0	3	0	0	0	5	0	4	0	4	2	3	0	4	5	1			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr11:5322889G>A	ENST00000380224.1	-	1	337	c.288C>T	c.(286-288)ttC>ttT	p.F96F	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGATTGGGTGAAACAGGCAG	0.507													3	121					0	0	1	0	0	A	5322889	G	A	5322889	2	1	152	1	0	0	0	0	0	0	0	1	11138	1281	45	2		2	OR51B4	11	5322889	Silent	SNP	G	TCGA-G9-7521-01A-11D-2260-08		5322889	129683627	20	7217											
OR2AG1	144125	broad.mit.edu	37	chr11	6806516	6806516	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtcactcccaaggcccttgCggactttctgcgcagagaaa	9	9	10	13	2	2	1	1	0	1	1	3	3	3	2	2	2	2	1	2	2	2	2			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr11:6806516C>T	ENST00000307401.4	+	1	269	c.248C>T	c.(247-249)gCg>gTg	p.A83V		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AAGGCCCTTGCGGACTTTCTG	0.572													11	80					0	0	1	0	0	T	6806516	C	T	6806516	3	4	152	1	0	0	0	0	1	0	0	0	11032	768	27	1	250	1	OR2AG1	11	6806516	Missense_Mutation	SNP	C	TCGA-G9-7521-01A-11D-2260-08	1483627	6806516	128200000	21	7218											
TEAD1	7003	broad.mit.edu	37	chr11	12946524	12946524	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtaaccagtcagtacgaGagttctgaaaatatgacagt	14	10	11	6	1	2	3	1	2	1	1	2	4	2	3	1	1	2	3	1	1	5	4			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr11:12946524G>T	ENST00000361905.4	+	11	1559	c.894G>T	c.(892-894)gaG>gaT	p.E298D	TEAD1_ENST00000334310.6_Missense_Mutation_p.E244D|TEAD1_ENST00000527575.1_Missense_Mutation_p.E255D|TEAD1_ENST00000527636.1_Missense_Mutation_p.E313D|TEAD1_ENST00000361985.2_Missense_Mutation_p.E313D|TEAD1_ENST00000526600.1_Missense_Mutation_p.E217D	NM_021961.5	NP_068780.2	P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	313	Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GTCAGTACGAGAGTTCTGAAA	0.418													13	89					9.05144e-12	1.00572e-11	1	1	0	T	12946524	G	T	12946524	3	4	152	1	0	0	0	0	1	0	0	0	15797	933	33	4	973	4	TEAD1	11	12946524	Missense_Mutation	SNP	G	TCGA-G9-7521-01A-11D-2260-08	6140008	12946524	122059992	22	7219											
ATM	472	broad.mit.edu	37	chr11	108218046	108218046	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtgatagacatgtacagaaTatcttgataaatgagcagtc	15	11	10	5	0	1	5	0	3	1	2	2	5	1	5	0	1	2	2	0	1	6	5			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr11:108218046T>A	ENST00000278616.4	+	59	9010	c.8625T>A	c.(8623-8625)aaT>aaA	p.N2875K	ATM_ENST00000452508.2_Missense_Mutation_p.N2875K|ATM_ENST00000525178.1_3'UTR|C11orf65_ENST00000525729.1_Intron|C11orf65_ENST00000526725.1_Intron	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2875	PI3K/PI4K.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		ATGTACAGAATATCTTGATAA	0.303			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			21	60					0	0	1	0	0	A	108218046	T	A	108218046	3	1	152	1	0	0	0	0	1	0	0	0	1108	1403	49	5	8855	5	ATM	11	108218046	Missense_Mutation	SNP	T	TCGA-G9-7521-01A-11D-2260-08	95271522	108218046	26788470	23	7220											
GPD1	2819	broad.mit.edu	37	chr12	50498486	50498486	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgagatcatcaacacgcaGcatgagaatgtcaaatacct	16	8	7	10	1	3	2	3	2	0	2	3	4	3	2	1	0	3	2	1	0	4	1			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr12:50498486G>A	ENST00000301149.3	+	2	403	c.171G>A	c.(169-171)caG>caA	p.Q57Q	GPD1_ENST00000547190.1_3'UTR|GPD1_ENST00000548814.1_Silent_p.Q57Q	NM_001257199.1|NM_005276.3	NP_001244128.1|NP_005267.2	P21695	GPDA_HUMAN	glycerol-3-phosphate dehydrogenase 1 (soluble)	57					glycerol-3-phosphate catabolic process|triglyceride biosynthetic process	cytosol|glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8					NADH(DB00157)	TCAACACGCAGCATGAGAATG	0.547													5	260					0	0	1	0	0	A	50498486	G	A	50498486	2	1	152	1	0	0	0	0	0	0	0	1	6644	962	34	2		2	GPD1	12	50498486	Silent	SNP	G	TCGA-G9-7521-01A-11D-2260-08		50498486	83353409	24	7221											
NUP37	79023	broad.mit.edu	37	chr12	102470594	102470594	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cctgaataagcaggctcgatCcatgtgaacaggtctcttat	11	11	9	10	1	1	2	0	2	1	0	4	3	2	2	2	2	2	2	2	2	4	2			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr12:102470594C>G	ENST00000552283.1	-	8	893	c.754G>C	c.(754-756)Gat>Cat	p.D252H	NUP37_ENST00000251074.1_Missense_Mutation_p.D252H			Q8NFH4	NUP37_HUMAN	nucleoporin 37kDa	252					carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding			endometrium(3)|large_intestine(3)|lung(10)|ovary(1)	17						CAGGCTCGATCCATGTGAACA	0.363													6	27					0	0	1	0	0	G	102470594	C	G	102470594	3	3	152	1	0	0	0	0	1	0	0	0	10812	855	30	4	238	4	NUP37	12	102470594	Missense_Mutation	SNP	C	TCGA-G9-7521-01A-11D-2260-08	51972108	102470594	31381301	25	7222											
USP30	84749	broad.mit.edu	37	chr12	109519153	109519153	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcagagtcctgttcgattTgatacctttgatagcctttc	7	18	7	9	1	1	3	1	2	0	1	4	4	2	3	3	0	2	1	3	0	2	7			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr12:109519153T>G	ENST00000257548.5	+	8	828	c.735T>G	c.(733-735)ttT>ttG	p.F245L	USP30_ENST00000392784.2_Missense_Mutation_p.F214L	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	245					ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						CTGTTCGATTTGATACCTTTG	0.353													33	75					0	0	1	0	0	G	109519153	T	G	109519153	3	3	152	1	0	0	0	0	1	0	0	0	17121	1809	63	5	765	5	USP30	12	109519153	Missense_Mutation	SNP	T	TCGA-G9-7521-01A-11D-2260-08	7048559	109519153	24332742	26	7223											
SMAD9	4093	broad.mit.edu	37	chr13	37427659	37427659	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctgagcgaagagctggttgTtgaagaccttgaggctgcag	9	9	16	7	1	0	5	0	3	0	2	0	6	0	5	1	2	3	6	1	2	2	3			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr13:37427659T>C	ENST00000379826.4	-	6	1499	c.1157A>G	c.(1156-1158)aAc>aGc	p.N386S	SMAD9_ENST00000350148.5_Missense_Mutation_p.N349S|SMAD9_ENST00000399275.2_Missense_Mutation_p.N386S	NM_001127217.2	NP_001120689.1	O15198	SMAD9_HUMAN	SMAD family member 9	386	MH2.				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		GAGCTGGTTGTTGAAGACCTT	0.532													7	44					0	0	1	0	0	C	37427659	T	C	37427659	3	2	152	1	0	0	0	0	1	0	0	0	14818	1725	60	3	254	3	SMAD9	13	37427659	Missense_Mutation	SNP	T	TCGA-G9-7521-01A-11D-2260-08		37427659	77742219	27	7224											
AKAP11	11215	broad.mit.edu	37	chr13	42874546	42874546	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagcattcaaaaatttgcagCagatcttgtggaaaaaagtt	16	12	8	5	0	2	1	1	0	1	1	2	2	2	2	0	1	3	4	0	1	6	5			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr13:42874546C>T	ENST00000025301.2	+	8	1839	c.1664C>T	c.(1663-1665)gCa>gTa	p.A555V		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	555					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		AAATTTGCAGCAGATCTTGTG	0.303													9	32					0	0	1	0	0	T	42874546	C	T	42874546	3	4	152	1	0	0	0	0	1	0	0	0	444	710	25	2	1686	2	AKAP11	13	42874546	Missense_Mutation	SNP	C	TCGA-G9-7521-01A-11D-2260-08	5446887	42874546	72295332	28	7225											
UBR7	55148	broad.mit.edu	37	chr14	93684961	93684961	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcaaacctgaaaatggagaGcatcaagatagtaccctcaa	18	7	7	9	0	3	3	3	1	0	2	3	4	3	3	2	1	3	2	2	1	7	2			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr14:93684961G>A	ENST00000013070.6	+	7	926	c.690G>A	c.(688-690)gaG>gaA	p.E230E	UBR7_ENST00000416753.1_Silent_p.E154E	NM_175748.3	NP_786924.2	Q8N806	UBR7_HUMAN	ubiquitin protein ligase E3 component n-recognin 7 (putative)	230							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|large_intestine(2)|lung(12)|urinary_tract(1)	19						AAAATGGAGAGCATCAAGATA	0.443													3	126					0	0	1	0	0	A	93684961	G	A	93684961	2	1	152	1	0	0	0	0	0	0	0	1	16967	962	34	2		2	UBR7	14	93684961	Silent	SNP	G	TCGA-G9-7521-01A-11D-2260-08		93684961	13664579	29	7226											
MEFV	4210	broad.mit.edu	37	chr16	3299469	3299469	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcaatggggcgcacccGgtggccttggtgctcctgac	4	9	13	15	2	1	1	1	1	0	0	3	1	3	1	4	5	1	2	4	5	1	1			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr16:3299469G>A	ENST00000219596.1	-	3	1261	c.1222C>T	c.(1222-1224)Cgg>Tgg	p.R408W	MEFV_ENST00000339854.4_Missense_Mutation_p.R228W|MEFV_ENST00000536379.1_Missense_Mutation_p.R197W|MEFV_ENST00000541159.1_Missense_Mutation_p.R197W	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	408			R -> Q (in arFMF; associated with Q-148 and S-369 in cis; could be a polymorphism; dbSNP:rs11466024).		inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	GGGCGCACCCGGTGGCCTTGG	0.602													30	59					0	0	1	0	0	A	3299469	G	A	3299469	3	1	152	1	0	0	0	0	1	0	0	0	9509	1115	39	1	1155	1	MEFV	16	3299469	Missense_Mutation	SNP	G	TCGA-G9-7521-01A-11D-2260-08		3299469	87055284	30	7227											
TP53	7157	broad.mit.edu	37	chr17	7577085	7577085	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttgcggagattctcttcctCtgtgcgccggtctctcccag	3	13	10	15	3	3	1	0	0	3	1	7	2	5	1	3	2	2	0	3	2	0	3	rs112431538		TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr17:7577085C>T	ENST00000420246.2	-	8	985	c.853G>A	c.(853-855)Gag>Aag	p.E285K	TP53_ENST00000269305.4_Missense_Mutation_p.E285K|TP53_ENST00000455263.2_Missense_Mutation_p.E285K|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.E285K|TP53_ENST00000445888.2_Missense_Mutation_p.E285K	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	285	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E285K(111)|p.E285*(24)|p.0?(8)|p.E285Q(4)|p.?(2)|p.R283fs*16(2)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.E285fs*60(1)|p.G279fs*59(1)|p.R283fs*56(1)|p.E285fs*20(1)|p.E285fs*13(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(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)		TTCTCTTCCTCTGTGCGCCGG	0.562		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)			21	26					0	0	1	0	0	T	7577085	C	T	7577085	3	4	152	1	0	0	0	0	1	0	0	0	16442	922	32	2	433	2	TP53	17	7577085	Missense_Mutation	SNP	C	TCGA-G9-7521-01A-11D-2260-08		7577085	73618125	31	7228											
WSB1	26118	broad.mit.edu	37	chr17	25639358	25639358	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agttcaggagctgccgattcCttccaagcttttggagtttc	7	14	10	10	1	1	0	1	0	0	0	4	3	3	2	3	2	3	4	3	2	1	6			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr17:25639358C>T	ENST00000262394.2	+	9	1545	c.1229C>T	c.(1228-1230)cCt>cTt	p.P410L	WSB1_ENST00000348811.2_Missense_Mutation_p.P264L	NM_015626.8	NP_056441.6	Q9Y6I7	WSB1_HUMAN	WD repeat and SOCS box containing 1	410	SOCS box.				intracellular signal transduction	intracellular	protein binding			lung(3)	3	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		CTGCCGATTCCTTCCAAGCTT	0.473													5	271					0	0	1	0	0	T	25639358	C	T	25639358	3	4	152	1	0	0	0	0	1	0	0	0	17464	681	24	2	1263	2	WSB1	17	25639358	Missense_Mutation	SNP	C	TCGA-G9-7521-01A-11D-2260-08	18062273	25639358	55555852	32	7229											
PSME3	10197	broad.mit.edu	37	chr17	40986805	40986805	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggaaccaatcttaaacaTccatgacctaactcagatcc	15	9	4	13	0	3	2	2	1	1	1	5	3	5	3	4	1	3	0	4	1	5	2			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr17:40986805T>G	ENST00000293362.3	+	4	316	c.155T>G	c.(154-156)aTc>aGc	p.I52S	PSME3_ENST00000545225.1_De_novo_Start_InFrame|PSME3_ENST00000590720.1_Missense_Mutation_p.I52S|PSME3_ENST00000592578.1_3'UTR|PSME3_ENST00000592169.1_Intron|PSME3_ENST00000541124.1_3'UTR|PSME3_ENST00000441946.2_Missense_Mutation_p.I63S	NM_005789.3|NM_176863.2	NP_005780.2|NP_789839.1	P61289	PSME3_HUMAN	proteasome (prosome, macropain) activator subunit 3 (PA28 gamma; Ki)	52					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of proteasomal protein catabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome activator complex	endopeptidase activator activity|identical protein binding|MDM2 binding|p53 binding			NS(1)|cervix(1)|large_intestine(3)|lung(1)	6		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		ATCTTAAACATCCATGACCTA	0.418													25	82					0	0	1	0	0	G	40986805	T	G	40986805	3	3	152	1	0	0	0	0	1	0	0	0	12757	1435	50	5	169	5	PSME3	17	40986805	Missense_Mutation	SNP	T	TCGA-G9-7521-01A-11D-2260-08	15347447	40986805	40208405	33	7230											
TMC8	147138	broad.mit.edu	37	chr17	76128481	76128481	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcctacttcaccttcctcCgcttcctgctgctactcaac	5	13	5	18	1	2	0	2	0	0	0	6	0	6	0	5	1	5	3	5	1	3	5			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr17:76128481C>G	ENST00000318430.5	+	4	714	c.340C>G	c.(340-342)Cgc>Ggc	p.R114G	TMC6_ENST00000322914.3_5'UTR|TMC8_ENST00000589691.1_5'UTR	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	114						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			CACCTTCCTCCGCTTCCTGCT	0.687													11	32					0	0	1	0	0	G	76128481	C	G	76128481	3	3	152	1	0	0	0	0	1	0	0	0	16051	652	23	4	350	4	TMC8	17	76128481	Missense_Mutation	SNP	C	TCGA-G9-7521-01A-11D-2260-08	35141676	76128481	5066729	34	7231											
DSEL	92126	broad.mit.edu	37	chr18	65179168	65179168	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgagtcgatttccaactcaGtttcaggaatatcaatgtag	13	13	8	7	1	3	1	3	1	0	0	5	3	4	2	1	1	1	2	1	1	5	4			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr18:65179168G>T	ENST00000310045.7	-	2	4181	c.2708C>A	c.(2707-2709)aCt>aAt	p.T903N	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	893						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TTCCAACTCAGTTTCAGGAAT	0.418													15	48					6.72482e-11	7.33617e-11	1	1	0	T	65179168	G	T	65179168	3	4	152	1	0	0	0	0	1	0	0	0	4801	1029	36	4	964	4	DSEL	18	65179168	Missense_Mutation	SNP	G	TCGA-G9-7521-01A-11D-2260-08		65179168	12898080	35	7232											
ARID3A	1820	broad.mit.edu	37	chr19	964321	964321	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgctgtacgtgctggtgacGgagaagggcggcctcgtgga	7	8	18	8	4	0	2	0	1	0	1	1	4	0	3	1	5	3	3	1	5	2	1			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr19:964321G>A	ENST00000263620.3	+	5	1167	c.840G>A	c.(838-840)acG>acA	p.T280T		NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	280	ARID.					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCTGGTGACGGAGAAGGGCG	0.607													3	73					0	0	1	0	0	A	964321	G	A	964321	2	1	152	1	0	0	0	0	0	0	0	1	913	1103	39	1		1	ARID3A	19	964321	Silent	SNP	G	TCGA-G9-7521-01A-11D-2260-08		964321	58164662	36	7233											
FEM1A	55527	broad.mit.edu	37	chr19	4792557	4792557	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacgggccacaccaacatcGtggagtacctcatccaggag	11	6	11	13	2	1	1	1	1	0	0	3	3	2	3	4	3	2	1	4	3	2	1			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr19:4792557G>A	ENST00000269856.3	+	1	830	c.691G>A	c.(691-693)Gtg>Atg	p.V231M	AC005523.2_ENST00000601192.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	231					regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CACCAACATCGTGGAGTACCT	0.687													3	88					0	0	1	0	0	A	4792557	G	A	4792557	3	1	152	1	0	0	0	0	1	0	0	0	5842	1145	40	1	693	1	FEM1A	19	4792557	Missense_Mutation	SNP	G	TCGA-G9-7521-01A-11D-2260-08	3828236	4792557	54336426	37	7234											
NCAN	1463	broad.mit.edu	37	chr19	19356217	19356217	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catgaaagcgggcgctggaaCgatgtcccctgcaactacaa	12	6	11	12	3	0	1	0	1	0	0	1	3	1	2	2	2	5	2	2	2	5	1			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr19:19356217C>T	ENST00000252575.5	+	13	3631	c.3588C>T	c.(3586-3588)aaC>aaT	p.N1196N	NCAN_ENST00000538881.1_Silent_p.N647N	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	1196	C-type lectin.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			GGCGCTGGAACGATGTCCCCT	0.552													30	64					0	0	1	0	0	T	19356217	C	T	19356217	2	4	152	1	0	0	0	0	0	0	0	1	10251	535	19	1		1	NCAN	19	19356217	Silent	SNP	C	TCGA-G9-7521-01A-11D-2260-08	14563660	19356217	39772766	38	7235											
ZNF527	84503	broad.mit.edu	37	chr19	37880057	37880057	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgtgggaaggcctttagccGttatgccttccttgttgaac	7	14	11	9	1	0	1	0	1	0	0	1	2	1	2	4	2	3	2	4	2	4	6			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr19:37880057G>A	ENST00000436120.2	+	5	1213	c.1106G>A	c.(1105-1107)cGt>cAt	p.R369H	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	369					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GCCTTTAGCCGTTATGCCTTC	0.433													10	30					0	0	1	0	0	A	37880057	G	A	37880057	3	1	152	1	0	0	0	0	1	0	0	0	18025	1145	40	1	1120	1	ZNF527	19	37880057	Missense_Mutation	SNP	G	TCGA-G9-7521-01A-11D-2260-08	18523840	37880057	21248926	39	7236											
LILRB5	0	broad.mit.edu	37	chr19	54754843	54754843	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaacgtggtgggggtggggAggcctgggggcctggagagg	5	5	26	5	1	0	1	0	0	0	1	0	4	0	3	2	11	1	0	2	11	1	0			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr19:54754843A>G	ENST00000450632.1	-	13	1869	c.1792T>C	c.(1792-1794)Tcc>Ccc	p.S598P	LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000345866.6_Intron			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	423					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGGGTGGGGAGGCCTGGGGG	0.607													3	55					0	0	1	0	0	G	54754843	A	G	54754843	3	3	152	1	0	0	0	0	1	0	0	0	8834	319	11	3		3	LILRB5	19	54754843	Missense_Mutation	SNP	A	TCGA-G9-7521-01A-11D-2260-08	16874786	54754843	4374140	40	7237											
ZNF549	256051	broad.mit.edu	37	chr19	58050081	58050081	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaaatgctttagacaccgcaCcagcctcattcaacaccaga	14	7	6	14	1	2	2	2	0	0	2	2	3	2	2	4	0	3	2	4	0	3	3			TCGA-G9-7521-01A-11D-2260-08	TCGA-G9-7521-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74e478ae-4fd2-454f-a0d1-0d2d37527fb8	02ec6811-5ee2-4ebc-9a00-dc60ca0e4bbd	g.chr19:58050081C>T	ENST00000376233.3	+	4	1890	c.1709C>T	c.(1708-1710)aCc>aTc	p.T570I	ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000240719.3_Missense_Mutation_p.T557I	NM_001199295.1	NP_001186224.1	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	570					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGACACCGCACCAGCCTCATT	0.453													8	43					0	0	1	0	0	T	58050081	C	T	58050081	3	4	152	1	0	0	0	0	1	0	0	0	18038	507	18	2	1680	2	ZNF549	19	58050081	Missense_Mutation	SNP	C	TCGA-G9-7521-01A-11D-2260-08	3295238	58050081	1078902	41	7238											
PTPRC	5788	broad.mit.edu	37	chr1	198665988	198665988	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tagtccagacaatacttccaCccaagtatccccggactctt	11	10	5	15	1	1	1	0	0	1	1	4	2	4	2	5	1	1	1	5	1	5	5			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr1:198665988C>T	ENST00000367376.2	+	4	413	c.242C>T	c.(241-243)aCc>aTc	p.T81I	PTPRC_ENST00000442510.2_Missense_Mutation_p.T83I|PTPRC_ENST00000391970.3_Intron|PTPRC_ENST00000594404.1_Intron|PTPRC_ENST00000352140.3_Missense_Mutation_p.T81I|PTPRC_ENST00000348564.6_Intron	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	81					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AATACTTCCACCCAAGTATCC	0.413													16	145					0	0	1	0	0	T	198665988	C	T	198665988	3	4	153	1	0	0	0	0	1	0	0	0	12849	507	18	2	263	2	PTPRC	1	198665988	Missense_Mutation	SNP	C	TCGA-G9-7522-01A-11D-2260-08		198665988	50584633	1	7239											
VILL	50853	broad.mit.edu	37	chr3	38047326	38047326	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaagtgagtggaaggaggCggtggcctggggccaggagt	8	6	21	6	1	0	1	0	1	0	0	0	4	0	4	2	8	1	1	2	8	2	0			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr3:38047326C>T	ENST00000283713.6	+	17	2260	c.1994C>T	c.(1993-1995)gCg>gTg	p.A665V	VILL_ENST00000465644.1_Missense_Mutation_p.A383V|VILL_ENST00000383759.2_Missense_Mutation_p.A665V			O15195	VILL_HUMAN	villin-like	665					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TGGAAGGAGGCGGTGGCCTGG	0.657													18	157					0	0	1	0	0	T	38047326	C	T	38047326	3	4	153	1	0	0	0	0	1	0	0	0	17225	768	27	1	2056	1	VILL	3	38047326	Missense_Mutation	SNP	C	TCGA-G9-7522-01A-11D-2260-08		38047326	159975104	2	7240											
TCTA	6988	broad.mit.edu	37	chr3	49449979	49449981	+	In_Frame_Del	DEL	GCT	GCT	-																															atgcgcgtgaccctcttcaaGctgctgctgctgtggttggt																										TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr3:49449979_49449981delGCT	ENST00000273590.3	+	1	341_343	c.120_122delGCT	c.(118-123)aag>aa	p.KL40del	RHOA_ENST00000265538.3_5'UTR|TCTA_ENST00000493381.1_3'UTR	NM_022171.2	NP_071503.1	P57738	TCTA_HUMAN	T-cell leukemia translocation altered	40						integral to membrane				large_intestine(4)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCCTCTTCAAGCTGCTGCTGCTG	0.645													8	457	---	---	---	---						-	49449981	GCT	-	49449979	7	5	153	1	0	1	0	1	0	0	0	0	15775	962	34	0	122	0	TCTA	3	49449979	In_Frame_Del	DEL	GCT	TCGA-G9-7522-01A-11D-2260-08	11402653	49449979	148572451	3	7241											
DNAJB8	165721	broad.mit.edu	37	chr3	128181921	128181921	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcgtttcttggagtcagaCagaacctcataggcctcaga	11	9	11	10	1	4	3	3	0	1	3	4	5	4	4	2	2	2	1	2	2	2	3			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr3:128181921C>G	ENST00000469083.1	-	2	2725	c.168G>C	c.(166-168)ctG>ctC	p.L56L	DNAJB8_ENST00000319153.3_Silent_p.L56L			Q8NHS0	DNJB8_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 8	56	J.				protein folding		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		TGGAGTCAGACAGAACCTCAT	0.612													23	218					0	0	1	0	0	G	128181921	C	G	128181921	2	3	153	1	0	0	0	0	0	0	0	1	4653	465	17	4		4	DNAJB8	3	128181921	Silent	SNP	C	TCGA-G9-7522-01A-11D-2260-08	78731942	128181921	69840509	4	7242											
TMCC1	23023	broad.mit.edu	37	chr3	129370592	129370592	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacctgctgctgctgctgcTgcagctccatcttggagatg	5	11	11	14	0	1	1	0	0	1	1	2	2	2	1	3	1	7	7	3	1	0	1			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr3:129370592T>A	ENST00000393238.3	-	6	2034	c.1694A>T	c.(1693-1695)cAg>cTg	p.Q565L	TMCC1_ENST00000329333.5_Missense_Mutation_p.Q386L|TMCC1_ENST00000432054.2_Missense_Mutation_p.Q241L|TMCC1_ENST00000426664.2_Missense_Mutation_p.Q451L	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	565						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CTGCTGCTGCTGCAGCTCCAT	0.572													4	159					0	0	1	0	0	A	129370592	T	A	129370592	3	1	153	1	0	0	0	0	1	0	0	0	16052	1580	55	5	271	5	TMCC1	3	129370592	Missense_Mutation	SNP	T	TCGA-G9-7522-01A-11D-2260-08	1188671	129370592	68651838	5	7243											
RUNX2	860	broad.mit.edu	37	chr6	45390463	45390463	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacagcagcagcagcagcaGcaacagcagcagcagcagca	16	0	11	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	11	0	0	2	0			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr6:45390463G>A	ENST00000371438.1	+	2	550	c.192G>A	c.(190-192)caG>caA	p.Q64Q	RUNX2_ENST00000359524.5_Silent_p.Q50Q|RUNX2_ENST00000576263.1_Silent_p.Q64Q|RUNX2_ENST00000371436.6_Silent_p.Q64Q|RUNX2_ENST00000541979.1_Silent_p.Q132Q|RUNX2_ENST00000371432.3_Silent_p.Q50Q|RUNX2_ENST00000352853.5_Silent_p.Q132Q|RUNX2_ENST00000465038.2_Silent_p.Q64Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	64	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcagcaacagcagc	0.736													3	54					0	0	1	0	0	A	45390463	G	A	45390463	2	1	153	1	0	0	0	0	0	0	0	1	13800	962	34	2		2	RUNX2	6	45390463	Silent	SNP	G	TCGA-G9-7522-01A-11D-2260-08		45390463	125724604	6	7244											
RFX6	222546	broad.mit.edu	37	chr6	117245849	117245849	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaggttcttttcatttgattCgaatgcttctcgatgaatac	10	17	7	7	2	3	2	1	2	2	0	5	4	3	2	0	1	2	2	0	1	4	7			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr6:117245849C>T	ENST00000332958.2	+	15	1589	c.1573C>T	c.(1573-1575)Cga>Tga	p.R525*		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	525					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	p.R525*(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TCATTTGATTCGAATGCTTCT	0.388													20	93					0	0	1	0	0	T	117245849	C	T	117245849	4	4	153	1	0	0	0	0	0	1	0	0	13319	876	31	1	1631	1	RFX6	6	117245849	Nonsense_Mutation	SNP	C	TCGA-G9-7522-01A-11D-2260-08	71855386	117245849	53869218	7	7245											
PPP1R3A	5506	broad.mit.edu	37	chr7	113558852	113558852	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gattgaatccaaaggaatcaGcaaatgaaactcttctagta	17	10	7	7	0	3	2	1	2	2	0	4	4	4	3	1	1	2	2	1	1	7	4			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr7:113558852G>A	ENST00000284601.3	-	1	268	c.200C>T	c.(199-201)gCt>gTt	p.A67V		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	67					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						AAAGGAATCAGCAAATGAAAC	0.423													3	98					0	0	1	0	0	A	113558852	G	A	113558852	3	1	153	1	0	0	0	0	1	0	0	0	12420	971	34	2	3184	2	PPP1R3A	7	113558852	Missense_Mutation	SNP	G	TCGA-G9-7522-01A-11D-2260-08		113558852	45579811	8	7246											
PPP1R3B	79660	broad.mit.edu	37	chr8	8998648	8998648	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgacaaggaaagtctgtgtAgctcttccaggtgtcgaacg	10	10	12	9	2	2	1	0	1	2	0	4	3	3	2	1	2	2	2	1	2	4	2			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr8:8998648A>C	ENST00000310455.3	-	2	664	c.514T>G	c.(514-516)Tac>Gac	p.Y172D	PPP1R3B_ENST00000519699.1_Missense_Mutation_p.Y172D	NM_001201329.1|NM_024607.3	NP_001188258.1|NP_078883.2	Q86XI6	PPR3B_HUMAN	protein phosphatase 1, regulatory subunit 3B	172	CBM21.				glycogen metabolic process					endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		AAGTCTGTGTAGCTCTTCCAG	0.493													20	156					0	0	1	0	0	C	8998648	A	C	8998648	3	2	153	1	0	0	0	0	1	0	0	0	12421	420	15	5	347	5	PPP1R3B	8	8998648	Missense_Mutation	SNP	A	TCGA-G9-7522-01A-11D-2260-08		8998648	137365374	9	7247											
KCNU1	157855	broad.mit.edu	37	chr8	36641948	36641948	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catgtttcagactaagctacGaaatgaaacttgggaagact	15	10	9	7	1	1	3	1	1	0	2	1	5	1	4	0	1	3	2	0	1	5	4			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr8:36641948G>A	ENST00000399881.3	+	1	57	c.20G>A	c.(19-21)cGa>cAa	p.R7Q		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	7						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		ACTAAGCTACGAAATGAAACT	0.453													6	43					0	0	1	0	0	A	36641948	G	A	36641948	3	1	153	1	0	0	0	0	1	0	0	0	8137	1058	37	1	22	1	KCNU1	8	36641948	Missense_Mutation	SNP	G	TCGA-G9-7522-01A-11D-2260-08	27643300	36641948	109722074	10	7248											
ABCA2	20	broad.mit.edu	37	chr9	139912649	139912649	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctggatccagacgaagccGtagaggaagtagaagcggcc	12	4	14	11	3	0	3	0	0	0	3	1	6	1	5	4	3	2	2	4	3	5	2			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr9:139912649G>A	ENST00000265662.5	-	14	2121	c.1974C>T	c.(1972-1974)taC>taT	p.Y658Y	ABCA2_ENST00000371605.3_Silent_p.Y657Y|ABCA2_ENST00000341511.6_Silent_p.Y658Y			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	657					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		AGACGAAGCCGTAGAGGAAGT	0.642													3	49					0	0	1	0	0	A	139912649	G	A	139912649	2	1	153	1	0	0	0	0	0	0	0	1	32	1140	40	1		1	ABCA2	9	139912649	Silent	SNP	G	TCGA-G9-7522-01A-11D-2260-08		139912649	1300782	11	7249											
AHNAK	79026	broad.mit.edu	37	chr11	62299581	62299581	+	Frame_Shift_Del	DEL	C	C	-																															agccttgggcaggttcacatCcacttctgggccctctgctt																										TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr11:62299581delC	ENST00000378024.4	-	5	2582	c.2308delG	c.(2308-2310)atfs	p.D770fs	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	770					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AGGTTCACATCCACTTCTGGG	0.502													46	333	---	---	---	---						-	62299581	C	-	62299581	7	5	153	1	0	1	0	1	0	0	0	0	411	855	30	0	15484	0	AHNAK	11	62299581	Frame_Shift_Del	DEL	C	TCGA-G9-7522-01A-11D-2260-08		62299581	72706935	12	7250											
PRPF40B	25766	broad.mit.edu	37	chr12	50025258	50025258	+	Frame_Shift_Del	DEL	C	C	-																															agtcagagaccaccagctatCccccccatgccacctggcat																										TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr12:50025258delC	ENST00000261897.1	+	2	626	c.75delC	c.(73-75)atfs	p.I25fs	PRPF40B_ENST00000380281.1_Frame_Shift_Del_p.I31fs|PRPF40B_ENST00000548825.2_Frame_Shift_Del_p.I53fs			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	31	Pro-rich.				mRNA processing|RNA splicing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						CACCAGCTATCCCCCCCATGC	0.607													7	390	---	---	---	---						-	50025258	C	-	50025258	7	5	153	1	0	1	0	1	0	0	0	0	12624	845	30	0	99	0	PRPF40B	12	50025258	Frame_Shift_Del	DEL	C	TCGA-G9-7522-01A-11D-2260-08		50025258	83826637	13	7251											
ATP6V0A2	23545	broad.mit.edu	37	chr12	124236942	124236942	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatgtagagaaatggcgtGtgaagaggtaaatcttttca	13	12	13	3	1	2	3	1	1	1	2	2	5	2	4	0	3	0	2	0	3	5	4			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr12:124236942G>A	ENST00000330342.3	+	17	2416	c.2168G>A	c.(2167-2169)tGt>tAt	p.C723Y		NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	723					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		GAAATGGCGTGTGAAGAGGTA	0.343													3	87					0	0	1	0	0	A	124236942	G	A	124236942	3	1	153	1	0	0	0	0	1	0	0	0	1167	1377	48	2	2234	2	ATP6V0A2	12	124236942	Missense_Mutation	SNP	G	TCGA-G9-7522-01A-11D-2260-08	74211684	124236942	9614953	14	7252											
TLN2	83660	broad.mit.edu	37	chr15	63008557	63008557	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cagccaacccagagaatgagGaccagcagcaaaggctgaga	16	2	12	11	0	0	3	0	2	0	2	0	6	0	4	3	2	4	3	3	2	3	0			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr15:63008557G>A	ENST00000561311.1	+	22	2892	c.2662G>A	c.(2662-2664)Gac>Aac	p.D888N	TLN2_ENST00000306829.6_Missense_Mutation_p.D888N			Q9Y4G6	TLN2_HUMAN	talin 2	888	Ala-rich.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						AGAGAATGAGGACCAGCAGCA	0.483													3	77					0	0	1	0	0	A	63008557	G	A	63008557	3	1	153	1	0	0	0	0	1	0	0	0	16008	1174	41	2	2740	2	TLN2	15	63008557	Missense_Mutation	SNP	G	TCGA-G9-7522-01A-11D-2260-08		63008557	39522835	15	7253											
STAC2	342667	broad.mit.edu	37	chr17	37369385	37369385	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aacccggtcgccgatcttgcCctggggatgaggttggcaat	7	9	14	11	3	1	1	0	1	1	0	2	3	1	2	3	5	2	2	3	5	2	2			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr17:37369385C>A	ENST00000333461.5	-	10	1363	c.993_splice	c.e10-1	p.G332_splice		NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN	SH3 and cysteine rich domain 2	332	SH3.				intracellular signal transduction		metal ion binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						CCGATCTTGCCCTGGGGATGA	0.612													5	167					0.184627	0.190058	1	1	0	A	37369385	C	A	37369385	5	1	153	1	0	0	0	0	0	0	1	0	15296	637	22	4	249	4	STAC2	17	37369385	Splice_Site	SNP	C	TCGA-G9-7522-01A-11D-2260-08		37369385	43825825	16	7254											
SCN4A	6329	broad.mit.edu	37	chr17	62041134	62041134	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccattgcagtctttgccatGggctgggtccccatctgcct	4	12	11	14	0	2	0	0	0	2	0	3	0	3	0	5	2	3	2	5	2	0	2			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr17:62041134G>A	ENST00000435607.1	-	10	1580	c.1504C>T	c.(1504-1506)Cat>Tat	p.H502Y	SCN4A_ENST00000578147.1_Missense_Mutation_p.H502Y	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	502					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	TCTTTGCCATGGGCTGGGTCC	0.637													7	22					0	0	1	0	0	A	62041134	G	A	62041134	3	1	153	1	0	0	0	0	1	0	0	0	13974	1348	47	2	4066	2	SCN4A	17	62041134	Missense_Mutation	SNP	G	TCGA-G9-7522-01A-11D-2260-08	24671749	62041134	19154076	17	7255											
CDK5RAP1	51654	broad.mit.edu	37	chr20	31961946	31961946	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgcatggcctccaacacacGgctgcttccactctgggctg	6	8	10	17	2	1	0	0	0	1	0	3	0	3	0	4	3	2	4	4	3	1	1			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr20:31961946G>A	ENST00000357886.4	-	10	1375	c.1222C>T	c.(1222-1224)Cgt>Tgt	p.R408C	CDK5RAP1_ENST00000452723.3_Missense_Mutation_p.R304C|CDK5RAP1_ENST00000339269.5_Missense_Mutation_p.R317C|CDK5RAP1_ENST00000473997.1_5'UTR|CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.R394C|CDK5RAP1_ENST00000544843.1_Missense_Mutation_p.R394C			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	408					brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						TCCAACACACGGCTGCTTCCA	0.502													61	372					0	0	1	0	0	A	31961946	G	A	31961946	3	1	153	1	0	0	0	0	1	0	0	0	3167	1116	39	1	607	1	CDK5RAP1	20	31961946	Missense_Mutation	SNP	G	TCGA-G9-7522-01A-11D-2260-08		31961946	31063574	18	7256											
SUN2	25777	broad.mit.edu	37	chr22	39134911	39134911	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cggggtgactgggagtggtaCcacagggggatgccgaagag	9	5	20	7	2	0	2	0	1	0	1	0	5	0	4	2	6	2	1	2	6	2	1			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr22:39134911C>T	ENST00000405510.1	-	16	2104	c.1746G>A	c.(1744-1746)tgG>tgA	p.W582*	SUN2_ENST00000406622.1_Nonsense_Mutation_p.W582*|SUN2_ENST00000405018.1_Nonsense_Mutation_p.W603*|RP3-508I15.19_ENST00000418803.1_RNA|SUN2_ENST00000216064.4_Nonsense_Mutation_p.W582*|SUN2_ENST00000411587.2_Nonsense_Mutation_p.W571*	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2	582	SUN.				centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	endosome membrane|integral to membrane|nuclear inner membrane|SUN-KASH complex	lamin binding|microtubule binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						GGGAGTGGTACCACAGGGGGA	0.637													10	56					0	0	1	0	0	T	39134911	C	T	39134911	4	4	153	1	0	0	0	0	0	1	0	0	15448	508	18	2	423	2	SUN2	22	39134911	Nonsense_Mutation	SNP	C	TCGA-G9-7522-01A-11D-2260-08		39134911	12169655	19	7257											
SERHL2	253190	broad.mit.edu	37	chr22	42967138	42967138	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctctgcaggcagagaacagCattgacttcatcagcaggga	12	8	11	10	0	3	2	2	1	1	1	4	4	3	3	0	2	4	4	0	2	1	2			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chr22:42967138C>A	ENST00000327678.5	+	10	762	c.660C>A	c.(658-660)agC>agA	p.S220R	SERHL2_ENST00000407614.4_Missense_Mutation_p.S40R|SERHL2_ENST00000340239.4_Missense_Mutation_p.A182E|SERHL2_ENST00000335879.5_Missense_Mutation_p.S156R|RRP7B_ENST00000357802.2_RNA	NM_014509.3	NP_055324.2	Q9H4I8	SEHL2_HUMAN	serine hydrolase-like 2	220						perinuclear region of cytoplasm|peroxisome	hydrolase activity			breast(1)|endometrium(2)|lung(3)|skin(1)|stomach(1)	8						CAGAGAACAGCATTGACTTCA	0.537													3	102					1	1	1	1	0	A	42967138	C	A	42967138	3	1	153	1	0	0	0	0	1	0	0	0	14132	709	25	4	698	4	SERHL2	22	42967138	Missense_Mutation	SNP	C	TCGA-G9-7522-01A-11D-2260-08	3832227	42967138	8337428	20	7258											
DNASE1L1	1774	broad.mit.edu	37	chrX	153631329	153631329	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggggaagtcaaaggcagccGcagtgtgcagcagactccgg	10	5	16	10	2	1	1	1	0	0	1	2	2	2	2	2	4	3	4	2	4	2	0			TCGA-G9-7522-01A-11D-2260-08	TCGA-G9-7522-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f54442d1-80fa-4678-ac94-c3ad03bc37fb	ba7eb48d-9486-45fc-9728-4ceeb9bdca09	g.chrX:153631329G>A	ENST00000369809.1	-	9	1357	c.728C>T	c.(727-729)gCg>gTg	p.A243V	DNASE1L1_ENST00000393638.1_Missense_Mutation_p.A243V	NM_001009932.1	NP_001009932.1	P49184	DNSL1_HUMAN	deoxyribonuclease I-like 1	243					DNA catabolic process	endoplasmic reticulum	DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters			lung(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AAAGGCAGCCGCAGTGTGCAG	0.657													3	77					0	0	1	0	0	A	153631329	G	A	153631329	3	1	153	1	0	0	0	0	1	0	0	0	4688	1087	38	1	188	1	DNASE1L1	23	153631329	Missense_Mutation	SNP	G	TCGA-G9-7522-01A-11D-2260-08		153631329	1639231	21	7259											
MTF1	4520	broad.mit.edu	37	chr1	38288086	38288086	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcctggtacaatgggctgcgGtgcctgggggtgcggaagaa	7	8	18	8	2	0	1	0	0	0	1	1	2	1	2	2	6	4	2	2	6	4	1			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr1:38288086G>A	ENST00000373036.4	-	9	1614	c.1474C>T	c.(1474-1476)Ccg>Tcg	p.P492S		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	492	Pro-rich.					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				ATGGGCTGCGGTGCCTGGGGG	0.572													3	33					0	0	1	0	0	A	38288086	G	A	38288086	3	1	154	1	0	0	0	0	1	0	0	0	9970	1261	44	2	799	2	MTF1	1	38288086	Missense_Mutation	SNP	G	TCGA-G9-7523-01A-11D-2260-08		38288086	210962535	1	7260											
IPP	3652	broad.mit.edu	37	chr1	46184897	46184898	+	Frame_Shift_Del	DEL	AC	AC	-																															aaagcatagatagccccataAcacacacacactcctaagcc																										TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr1:46184897_46184898delAC	ENST00000396478.3	-	6	1265_1266	c.1163_1164delGT	c.(1162-1164)tfs	p.C388fs		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	388						actin cytoskeleton|cytoplasm	actin binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TAGCCCCATAACACACACACAC	0.347													7	176	---	---	---	---						-	46184898	AC	-	46184897	7	5	154	1	0	1	0	1	0	0	0	0	7844	41	2	0	708	0	IPP	1	46184897	Frame_Shift_Del	DEL	AC	TCGA-G9-7523-01A-11D-2260-08	7896811	46184897	203065724	2	7261											
RGL1	23179	broad.mit.edu	37	chr1	183711406	183711406	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatcatgttcgaatatgggaAgttttaaagacagaggaggt	14	11	13	3	1	1	2	1	0	0	2	2	6	1	4	0	3	0	2	0	3	5	4			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr1:183711406A>C	ENST00000304685.3	+	2	575	c.114A>C	c.(112-114)gaA>gaC	p.E38D	RGL1_ENST00000367531.1_Missense_Mutation_p.E38D|RGL1_ENST00000536277.1_Missense_Mutation_p.E38D	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	0					cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						GAATATGGGAAGTTTTAAAGA	0.428													4	159					0	0	1	0	0	C	183711406	A	C	183711406	3	2	154	1	0	0	0	0	1	0	0	0	13328	69	3	5	116	5	RGL1	1	183711406	Missense_Mutation	SNP	A	TCGA-G9-7523-01A-11D-2260-08	137526509	183711406	65539215	3	7262											
C2orf76	130355	broad.mit.edu	37	chr2	120078761	120078761	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttctgaatggtggtggcagGttggtccttaaagggatatc	8	14	14	5	0	1	1	0	1	1	0	3	2	2	2	1	6	0	2	1	6	4	4			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr2:120078761G>A	ENST00000409466.2	-	4	674	c.153C>T	c.(151-153)aaC>aaT	p.N51N	C2orf76_ENST00000409523.1_Silent_p.N51N|C2orf76_ENST00000409877.1_Silent_p.N51N|C2orf76_ENST00000334816.7_Silent_p.N51N			Q3KRA6	CB076_HUMAN	chromosome 2 open reading frame 76	51										large_intestine(1)|lung(3)|pancreas(1)	5						GTGGTGGCAGGTTGGTCCTTA	0.264													12	62					0	0	1	0	0	A	120078761	G	A	120078761	2	1	154	1	0	0	0	0	0	0	0	1	2207	1252	44	2		2	C2orf76	2	120078761	Silent	SNP	G	TCGA-G9-7523-01A-11D-2260-08		120078761	123120612	4	7263											
RAPGEF4	11069	broad.mit.edu	37	chr2	173832057	173832057	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatgatgagcacgaggatGcccctttgcctactgaggag	9	9	14	9	1	0	3	0	3	0	0	0	7	0	6	3	3	4	1	3	3	1	2			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr2:173832057G>T	ENST00000264111.6	+	10	1073	c.886G>T	c.(886-888)Gcc>Tcc	p.A296S	RAPGEF4_ENST00000409036.1_Missense_Mutation_p.A297S|RAPGEF4_ENST00000397081.3_Missense_Mutation_p.A297S|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.A153S|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.A144S|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.A144S|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.A126S|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.A77S|RAPGEF4_ENST00000473043.1_3'UTR			Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	297					blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			GCACGAGGATGCCCCTTTGCC	0.522													10	26					0.000442599	0.000460543	1	1	0	T	173832057	G	T	173832057	3	4	154	1	0	0	0	0	1	0	0	0	13098	1319	46	4	943	4	RAPGEF4	2	173832057	Missense_Mutation	SNP	G	TCGA-G9-7523-01A-11D-2260-08	53753296	173832057	69367316	5	7264											
SP3	6670	broad.mit.edu	37	chr2	174777809	174777809	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attagtaacctgtatgtgttCttctgtgcctctgtaattca	8	18	7	8	0	4	0	1	0	3	0	4	0	4	0	2	0	2	4	2	0	4	7			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr2:174777809C>G	ENST00000310015.6	-	6	2548	c.2018G>C	c.(2017-2019)aGa>aCa	p.R673T	SP3_ENST00000455789.2_Missense_Mutation_p.R620T|SP3_ENST00000418194.2_Missense_Mutation_p.R605T	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	673					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			TGTATGTGTTCTTCTGTGCCT	0.368													4	74					0	0	1	0	0	G	174777809	C	G	174777809	3	3	154	1	0	0	0	0	1	0	0	0	15019	913	32	4	335	4	SP3	2	174777809	Missense_Mutation	SNP	C	TCGA-G9-7523-01A-11D-2260-08	945752	174777809	68421564	6	7265											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								23	93					0	0	1	0	0	T	209113112	C	T	209113112	3	4	154	1	0	0	0	0	1	0	0	0	7538	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-G9-7523-01A-11D-2260-08	34335303	209113112	34086261	7	7266											
NUP210	23225	broad.mit.edu	37	chr3	13407500	13407500	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactcaggtggacgtggccGtgtctgtagctcacaagaag	9	8	14	10	2	3	1	2	0	1	1	3	2	3	2	1	3	1	3	1	3	3	1			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr3:13407500G>A	ENST00000254508.5	-	14	1960	c.1878C>T	c.(1876-1878)caC>caT	p.H626H		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	626					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					GGACGTGGCCGTGTCTGTAGC	0.637													3	72					0	0	1	0	0	A	13407500	G	A	13407500	2	1	154	1	0	0	0	0	0	0	0	1	10808	1136	40	1		1	NUP210	3	13407500	Silent	SNP	G	TCGA-G9-7523-01A-11D-2260-08		13407500	184614930	8	7267											
EOMES	8320	broad.mit.edu	37	chr3	27763405	27763406	+	In_Frame_Ins	INS	-	-	GCG																															agcgcgcagtggccgcagccINSgcggcggcggcggcggcggc																								rs34467870		TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr3:27763405_27763406insGCG	ENST00000295743.4	-	1	583_584	c.380_381insCGC	c.(379-381)ggc>gCGCgc	p.127_127G>AR	EOMES_ENST00000537516.1_Intron|EOMES_ENST00000449599.1_In_Frame_Ins_p.127_127G>AR|EOMES_ENST00000461503.1_Intron			O95936	EOMES_HUMAN	eomesodermin	127	Ala-rich.				CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						tggccgcagccgcggcggcggc	0.772													2	4	---	---	---	---						GCG	27763406	-	GCG	27763405	7	5	154	1	0	1	1	0	0	0	0	0	5175	639	23	0	1703	0	EOMES	3	27763405	In_Frame_Ins	INS	-	TCGA-G9-7523-01A-11D-2260-08	14355905	27763405	170259025	9	7268											
SCAP	22937	broad.mit.edu	37	chr3	47455847	47455847	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccacaggcagatggccccAtcttgtcctccactggccag	7	8	9	17	0	1	1	0	0	1	1	4	1	4	1	6	3	0	1	6	3	0	1			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr3:47455847A>C	ENST00000265565.5	-	22	3829	c.3417T>G	c.(3415-3417)gaT>gaG	p.D1139E	SCAP_ENST00000441517.2_Missense_Mutation_p.D883E|SCAP_ENST00000545718.1_Missense_Mutation_p.D746E	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	1139	Interaction with SREBF2 (By similarity).				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		AGATGGCCCCATCTTGTCCTC	0.597													6	92					0	0	1	0	0	C	47455847	A	C	47455847	3	2	154	1	0	0	0	0	1	0	0	0	13930	214	8	5	430	5	SCAP	3	47455847	Missense_Mutation	SNP	A	TCGA-G9-7523-01A-11D-2260-08	19692442	47455847	150566583	10	7269											
RBM5	10181	broad.mit.edu	37	chr3	50129541	50129541	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggatgaccgtgatgagcGtgaatcccgaagcaggcgga	11	5	16	9	4	0	4	0	4	0	0	1	7	1	6	2	3	2	1	2	3	2	0	rs148224209		TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr3:50129541G>A	ENST00000347869.3	+	3	258	c.83G>A	c.(82-84)cGt>cAt	p.R28H	RBM5_ENST00000469838.1_Missense_Mutation_p.R28H	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	28					apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CGTGATGAGCGTGAATCCCGA	0.463													3	91					0	0	1	0	0	A	50129541	G	A	50129541	3	1	154	1	0	0	0	0	1	0	0	0	13195	1145	40	1	89	1	RBM5	3	50129541	Missense_Mutation	SNP	G	TCGA-G9-7523-01A-11D-2260-08	2673694	50129541	147892889	11	7270											
CD96	0	broad.mit.edu	37	chr3	111298010	111298010	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaaatcttcgatgatgggcGgaagttctcttgccacatta	10	12	9	10	2	2	1	0	1	2	0	4	3	2	2	2	2	1	1	2	2	3	4	rs143049331	by1000genomes	TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr3:111298010G>A	ENST00000352690.4	+	4	920	c.680G>A	c.(679-681)cGg>cAg	p.R227Q	CD96_ENST00000438817.2_Missense_Mutation_p.R227Q|CD96_ENST00000283285.5_Missense_Mutation_p.R243Q	NM_005816.4	NP_005807.1	P40200	TACT_HUMAN	CD96 molecule	243	Ig-like V-type 2.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						GATGATGGGCGGAAGTTCTCT	0.448									Opitz Trigonocephaly syndrome				3	127					0	0	1	0	0	A	111298010	G	A	111298010	3	1	154	1	0	0	0	0	1	0	0	0	3070	1116	39	1	746	1	CD96	3	111298010	Missense_Mutation	SNP	G	TCGA-G9-7523-01A-11D-2260-08	61168469	111298010	86724420	12	7271											
PLS1	5357	broad.mit.edu	37	chr3	142396940	142396940	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaataagaaaaagctcacGccattcactatttctgtaag	16	11	5	9	1	4	1	3	0	1	1	4	1	4	1	1	0	1	2	1	0	6	5			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr3:142396940G>A	ENST00000337777.3	+	6	777	c.564G>A	c.(562-564)acG>acA	p.T188T	PLS1_ENST00000457734.2_Silent_p.T188T|PLS1_ENST00000497002.1_Silent_p.T188T	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	188	Actin-binding 1.|CH 1.					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						AAAAGCTCACGCCATTCACTA	0.308													4	49					0	0	1	0	0	A	142396940	G	A	142396940	2	1	154	1	0	0	0	0	0	0	0	1	12155	1074	38	1		1	PLS1	3	142396940	Silent	SNP	G	TCGA-G9-7523-01A-11D-2260-08	31098930	142396940	55625490	13	7272											
NAALADL2	254827	broad.mit.edu	37	chr3	175042115	175042115	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcctggttacccaagtgtcgGtaagtttgttggtcatcatt	7	15	11	8	1	2	0	2	0	0	0	3	0	2	0	2	3	1	4	2	3	3	5			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr3:175042115G>A	ENST00000454872.1	+	5	1218		c.e5+1		NAALADL2_ENST00000473253.1_Splice_Site	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2						proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		CCAAGTGTCGGTAAGTTTGTT	0.383													3	65					0	0	1	0	0	A	175042115	G	A	175042115	5	1	154	1	0	0	0	0	0	0	1	0	10178	1275	44	2	1109	2	NAALADL2	3	175042115	Splice_Site	SNP	G	TCGA-G9-7523-01A-11D-2260-08	32645175	175042115	22980315	14	7273											
POU4F2	5458	broad.mit.edu	37	chr4	147561255	147561255	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcacgcaccaccaccaccaCcatcaccaccaccaccacca	13	1	3	24	1	1	0	1	0	0	0	1	0	1	0	10	1	0	2	10	1	0	0			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr4:147561255C>T	ENST00000281321.3	+	2	773	c.525C>T	c.(523-525)caC>caT	p.H175H		NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	175	Poly-His.				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					accaccaccaccatcaccacc	0.682													3	34					0	0	1	0	0	T	147561255	C	T	147561255	2	4	154	1	0	0	0	0	0	0	0	1	12325	506	18	2		2	POU4F2	4	147561255	Silent	SNP	C	TCGA-G9-7523-01A-11D-2260-08		147561255	43593021	15	7274											
TLL1	7092	broad.mit.edu	37	chr4	166996111	166996111	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagctacatgtgtcaatgccGtaatggatttgtgctacatg	10	13	11	7	1	1	0	1	0	0	0	1	2	1	1	1	1	5	3	1	1	4	4	rs114965343	by1000genomes	TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr4:166996111G>A	ENST00000061240.2	+	17	2917	c.2270G>A	c.(2269-2271)cGt>cAt	p.R757H	TLL1_ENST00000507499.1_Missense_Mutation_p.R780H	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	757	EGF-like 2; calcium-binding (Potential).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TGTCAATGCCGTAATGGATTT	0.403													4	256					0	0	1	0	0	A	166996111	G	A	166996111	3	1	154	1	0	0	0	0	1	0	0	0	16005	1145	40	1	2336	1	TLL1	4	166996111	Missense_Mutation	SNP	G	TCGA-G9-7523-01A-11D-2260-08	19434856	166996111	24158165	16	7275											
IBTK	25998	broad.mit.edu	37	chr6	82924057	82924057	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gatttaggtttgctcttctgCctctcactaactgtttgagc	6	17	8	10	0	3	1	1	1	3	0	4	2	3	1	1	1	4	3	1	1	2	6			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr6:82924057C>A	ENST00000306270.7	-	12	2640	c.2091G>T	c.(2089-2091)agG>agT	p.R697S	IBTK_ENST00000510291.1_Missense_Mutation_p.R697S|IBTK_ENST00000503631.1_Intron	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	697					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		TGCTCTTCTGCCTCTCACTAA	0.328													12	73					0.000151284	0.000159574	1	1	0	A	82924057	C	A	82924057	3	1	154	1	0	0	0	0	1	0	0	0	7520	738	26	4	2042	4	IBTK	6	82924057	Missense_Mutation	SNP	C	TCGA-G9-7523-01A-11D-2260-08		82924057	88191010	17	7276											
LAMA2	3908	broad.mit.edu	37	chr6	129691092	129691092	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tattcagctggcagagggcaAtctgaatacactcgtgaccg	11	9	11	10	2	2	3	1	2	1	1	3	3	2	3	1	2	2	3	1	2	4	3			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr6:129691092A>T	ENST00000421865.2	+	34	4965	c.4916A>T	c.(4915-4917)aAt>aTt	p.N1639I		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1639	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GCAGAGGGCAATCTGAATACA	0.448													3	107					0	0	1	0	0	T	129691092	A	T	129691092	3	4	154	1	0	0	0	0	1	0	0	0	8645	101	4	5	5050	5	LAMA2	6	129691092	Missense_Mutation	SNP	A	TCGA-G9-7523-01A-11D-2260-08	46767035	129691092	41423975	18	7277											
SAMD3	154075	broad.mit.edu	37	chr6	130467207	130467207	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attttttcttgcaatacaatAttgattggattgtccaccac	11	17	5	8	0	1	1	0	1	1	0	2	2	2	2	2	1	2	1	2	1	4	9			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr6:130467207A>G	ENST00000368134.2	-	12	1751	c.1143T>C	c.(1141-1143)aaT>aaC	p.N381N	SAMD3_ENST00000439090.2_Silent_p.N381N|SAMD3_ENST00000437477.2_Silent_p.N381N|SAMD3_ENST00000457563.2_Silent_p.N405N	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	381										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		GCAATACAATATTGATTGGAT	0.303													19	60					0	0	1	0	0	G	130467207	A	G	130467207	2	3	154	1	0	0	0	0	0	0	0	1	13872	446	16	3		3	SAMD3	6	130467207	Silent	SNP	A	TCGA-G9-7523-01A-11D-2260-08	776115	130467207	40647860	19	7278											
RAMP3	10268	broad.mit.edu	37	chr7	45222942	45222942	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcccgctgatcgttataccCgtcgttctgactgtcgccat	6	13	8	14	5	1	2	0	2	1	0	5	2	2	2	3	0	1	3	3	0	2	3			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr7:45222942C>T	ENST00000242249.4	+	3	416	c.378C>T	c.(376-378)ccC>ccT	p.P126P	RAMP3_ENST00000496212.1_Silent_p.P126P|RAMP3_ENST00000481345.1_Silent_p.P126P	NM_005856.2	NP_005847.1	O60896	RAMP3_HUMAN	receptor (G protein-coupled) activity modifying protein 3	126					intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane|lysosome	protein transporter activity			breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11					Pramlintide(DB01278)	TCGTTATACCCGTCGTTCTGA	0.617													69	298					0	0	1	0	0	T	45222942	C	T	45222942	2	4	154	1	0	0	0	0	0	0	0	1	13075	639	23	1		1	RAMP3	7	45222942	Silent	SNP	C	TCGA-G9-7523-01A-11D-2260-08		45222942	113915721	20	7279											
COPS6	10980	broad.mit.edu	37	chr7	99686916	99686916	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccctccacccttagtagTccccagcgtgatggcctgcg	5	11	9	16	2	0	1	0	1	0	0	3	1	3	1	6	1	2	1	6	1	2	3			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr7:99686916T>G	ENST00000303904.3	+	2	117	c.80T>G	c.(79-81)gTc>gGc	p.V27G	COPS6_ENST00000418625.1_Splice_Site_p.V26_splice	NM_006833.4	NP_006824.2	Q7L5N1	CSN6_HUMAN	COP9 signalosome subunit 6	27					cullin deneddylation|interspecies interaction between organisms	cytoplasm|signalosome	protein binding			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			CCCTTAGTAGTCCCCAGCGTG	0.622													5	236					0	0	1	0	0	G	99686916	T	G	99686916	3	3	154	1	0	0	0	0	1	0	0	0	3760	1667	58	5	86	5	COPS6	7	99686916	Missense_Mutation	SNP	T	TCGA-G9-7523-01A-11D-2260-08	54463974	99686916	59451747	21	7280											
COPS6	10980	broad.mit.edu	37	chr7	99688238	99688238	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtgagatcatcgagagcccCctctttctgaagttgaaccc	9	11	9	12	1	3	4	1	3	2	2	4	6	3	4	3	0	2	1	3	0	2	2	rs11550651		TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr7:99688238C>T	ENST00000303904.3	+	5	484	c.447C>T	c.(445-447)ccC>ccT	p.P149P	COPS6_ENST00000418625.1_Silent_p.P148P	NM_006833.4	NP_006824.2	Q7L5N1	CSN6_HUMAN	COP9 signalosome subunit 6	149					cullin deneddylation|interspecies interaction between organisms	cytoplasm|signalosome	protein binding			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			TCGAGAGCCCCCTCTTTCTGA	0.498													4	127					0	0	1	0	0	T	99688238	C	T	99688238	2	4	154	1	0	0	0	0	0	0	0	1	3760	610	22	2		2	COPS6	7	99688238	Silent	SNP	C	TCGA-G9-7523-01A-11D-2260-08	1322	99688238	59450425	22	7281											
AHCYL2	23382	broad.mit.edu	37	chr7	129053510	129053510	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgtttgtaacatgggacattCcaacacagagattgacgtgg	12	10	11	8	2	0	2	0	1	0	1	1	4	1	3	1	2	2	2	1	2	2	4			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr7:129053510C>A	ENST00000325006.3	+	12	1496	c.1442C>A	c.(1441-1443)tCc>tAc	p.S481Y	AHCYL2_ENST00000446544.2_Missense_Mutation_p.S480Y|AHCYL2_ENST00000446212.1_Missense_Mutation_p.S379Y|AHCYL2_ENST00000531335.2_Missense_Mutation_p.S400Y|AHCYL2_ENST00000490911.1_Missense_Mutation_p.S378Y|AHCYL2_ENST00000474594.1_Missense_Mutation_p.S378Y	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	481					one-carbon metabolic process		adenosylhomocysteinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						ATGGGACATTCCAACACAGAG	0.433													19	109					5.35047e-06	5.80262e-06	1	1	0	A	129053510	C	A	129053510	3	1	154	1	0	0	0	0	1	0	0	0	408	855	30	4	1610	4	AHCYL2	7	129053510	Missense_Mutation	SNP	C	TCGA-G9-7523-01A-11D-2260-08	29365272	129053510	30085153	23	7282											
XKR6	286046	broad.mit.edu	37	chr8	10755515	10755515	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaggagtggtccgtctcgatAtcgaatgcctactgcggtgg	7	10	15	9	4	1	0	0	0	1	0	4	4	2	1	2	4	3	0	2	4	3	2			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr8:10755515A>C	ENST00000416569.2	-	3	1899	c.1873T>G	c.(1873-1875)Tat>Gat	p.Y625D	XKR6_ENST00000304437.2_Missense_Mutation_p.Y346D	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	625						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		CCGTCTCGATATCGAATGCCT	0.468													4	130					0	0	1	0	0	C	10755515	A	C	10755515	3	2	154	1	0	0	0	0	1	0	0	0	17495	449	16	5	56	5	XKR6	8	10755515	Missense_Mutation	SNP	A	TCGA-G9-7523-01A-11D-2260-08		10755515	135608507	24	7283											
MCM4	4173	broad.mit.edu	37	chr8	48883929	48883929	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catctgtcagctcaatgcgcGcacctctgtcctggcagcag	7	9	10	15	2	4	0	2	0	2	0	5	0	5	0	2	1	3	4	2	1	1	0	rs151044076		TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr8:48883929G>A	ENST00000262105.2	+	12	2038	c.1829G>A	c.(1828-1830)cGc>cAc	p.R610H	MCM4_ENST00000523944.1_Missense_Mutation_p.R610H	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	610	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				CTCAATGCGCGCACCTCTGTC	0.493													3	104					0	0	1	0	0	A	48883929	G	A	48883929	3	1	154	1	0	0	0	0	1	0	0	0	9439	1087	38	1	1875	1	MCM4	8	48883929	Missense_Mutation	SNP	G	TCGA-G9-7523-01A-11D-2260-08	38128414	48883929	97480093	25	7284											
SNTG1	54212	broad.mit.edu	37	chr8	51363119	51363119	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctttttcattcacagcggAactttcaggactacttttta	9	17	6	9	1	3	0	3	0	0	0	3	2	3	2	0	2	4	1	0	2	3	8			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr8:51363119A>T	ENST00000522124.1	+	7	942	c.281A>T	c.(280-282)gAa>gTa	p.E94V	SNTG1_ENST00000518864.1_Missense_Mutation_p.E94V|SNTG1_ENST00000517473.1_Missense_Mutation_p.E94V|SNTG1_ENST00000276467.5_Missense_Mutation_p.E94V	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	94	PDZ.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TTCACAGCGGAACTTTCAGGA	0.289													4	127					0	0	1	0	0	T	51363119	A	T	51363119	3	4	154	1	0	0	0	0	1	0	0	0	14928	246	9	5	299	5	SNTG1	8	51363119	Missense_Mutation	SNP	A	TCGA-G9-7523-01A-11D-2260-08	2479190	51363119	95000903	26	7285											
DENND3	22898	broad.mit.edu	37	chr8	142186811	142186811	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagtgtgacctttggcaccTgatggtgaaggagatgtggg	8	10	17	6	1	0	4	0	3	0	1	0	6	0	4	2	4	0	1	2	4	1	1			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr8:142186811T>C	ENST00000519811.1	+	15	2727	c.2657T>C	c.(2656-2658)cTg>cCg	p.L886P	DENND3_ENST00000424248.1_Missense_Mutation_p.L754P|DENND3_ENST00000262585.2_Missense_Mutation_p.L806P			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	806										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			CTTTGGCACCTGATGGTGAAG	0.542													3	127					0	0	1	0	0	C	142186811	T	C	142186811	3	2	154	1	0	0	0	0	1	0	0	0	4460	1580	55	3	2471	3	DENND3	8	142186811	Missense_Mutation	SNP	T	TCGA-G9-7523-01A-11D-2260-08	90823692	142186811	4177211	27	7286											
BAI1	575	broad.mit.edu	37	chr8	143558610	143558610	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggacccctgcgcgagcagcGgctgtgcaacaactctgccg	7	5	13	16	5	1	0	0	0	1	0	1	2	1	1	3	2	7	3	3	2	2	0			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr8:143558610G>A	ENST00000517894.1	+	5	2087	c.1193G>A	c.(1192-1194)cGg>cAg	p.R398Q	BAI1_ENST00000323289.5_Missense_Mutation_p.R398Q			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	398	TSP type-1 2.				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CGCGAGCAGCGGCTGTGCAAC	0.731													3	65					0	0	1	0	0	A	143558610	G	A	143558610	3	1	154	1	0	0	0	0	1	0	0	0	1296	1116	39	1	1207	1	BAI1	8	143558610	Missense_Mutation	SNP	G	TCGA-G9-7523-01A-11D-2260-08	1371799	143558610	2805412	28	7287											
EXT2	2132	broad.mit.edu	37	chr11	44228397	44228397	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agttgtgaggactgctgaaaAcaagttaagtaaccgtttct	13	12	10	6	1	1	2	0	2	1	0	1	3	1	3	1	1	3	5	1	1	5	4			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr11:44228397A>T	ENST00000395673.3	+	10	1705	c.1649A>T	c.(1648-1650)aAc>aTc	p.N550I	EXT2_ENST00000533608.1_Missense_Mutation_p.N517I|EXT2_ENST00000358681.4_Missense_Mutation_p.N527I|EXT2_ENST00000343631.3_Missense_Mutation_p.N517I	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	517					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity	p.N517S(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						ACTGCTGAAAACAAGTTAAGT	0.403			"Mis, N, F, S"			"exostoses, osteosarcoma"			Hereditary Multiple Exostoses				4	129					0	0	1	0	0	T	44228397	A	T	44228397	3	4	154	1	0	0	0	0	1	0	0	0	5352	43	2	5	1784	5	EXT2	11	44228397	Missense_Mutation	SNP	A	TCGA-G9-7523-01A-11D-2260-08		44228397	90778119	29	7288											
FNBP4	23360	broad.mit.edu	37	chr11	47744589	47744591	+	In_Frame_Del	DEL	GGA	GGA	-																															ttttgggagctggtggtggtGgaggaggaggaggaggaggt																										TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr11:47744589_47744591delGGA	ENST00000263773.5	-	15	2754_2756	c.2742_2744delTCC	c.(2740-2745)cca>cc	p.PP916del		NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	916	Pro-rich.							p.P914P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						tggtggtggtggaggaggaggag	0.458													2	4	---	---	---	---						-	47744591	GGA	-	47744589	7	5	154	1	0	1	0	1	0	0	0	0	6000	1348	47	0	321	0	FNBP4	11	47744589	In_Frame_Del	DEL	GGA	TCGA-G9-7523-01A-11D-2260-08	3516192	47744589	87261927	30	7289											
C11orf84	144097	broad.mit.edu	37	chr11	63581248	63581248	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacgaggaggaggccatggtGgtggccgtaattccgcggcc	7	6	18	10	4	0	0	0	0	0	0	1	4	1	2	4	7	0	1	4	7	1	2			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr11:63581248G>A	ENST00000294244.4	+	1	389	c.90G>A	c.(88-90)gtG>gtA	p.V30V		NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN	chromosome 11 open reading frame 84	30										endometrium(3)|kidney(1)|lung(3)|skin(1)	8						AGGCCATGGTGGTGGCCGTAA	0.687													3	49					0	0	1	0	0	A	63581248	G	A	63581248	2	1	154	1	0	0	0	0	0	0	0	1	1672	1335	47	2		2	C11orf84	11	63581248	Silent	SNP	G	TCGA-G9-7523-01A-11D-2260-08	15836659	63581248	71425268	31	7290											
NRXN2	9379	broad.mit.edu	37	chr11	64418799	64418799	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaagcccatcaggggccGtggtcttgaactggaagaag	12	6	15	8	1	2	3	1	1	1	2	2	5	2	4	2	4	2	0	2	4	5	1	rs139892428		TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr11:64418799G>A	ENST00000265459.6	-	14	3307	c.2846C>T	c.(2845-2847)aCg>aTg	p.T949M	NRXN2_ENST00000377559.3_Missense_Mutation_p.T909M|NRXN2_ENST00000409571.1_Missense_Mutation_p.T942M|AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000377551.1_Missense_Mutation_p.T949M	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	949	Laminin G-like 5.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						ATCAGGGGCCGTGGTCTTGAA	0.582											OREG0021057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	62					0	0	1	0	0	A	64418799	G	A	64418799	3	1	154	1	0	0	0	0	1	0	0	0	10714	1145	40	1	2601	1	NRXN2	11	64418799	Missense_Mutation	SNP	G	TCGA-G9-7523-01A-11D-2260-08	837551	64418799	70587717	32	7291											
PHLDB1	23187	broad.mit.edu	37	chr11	118498834	118498834	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggccgaacattttcagatgGgttagccacccgtaccctgc	8	9	11	13	2	1	1	1	0	0	1	1	2	1	1	4	2	4	2	4	2	3	4	rs141245340		TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr11:118498834G>T	ENST00000361417.2	+	7	1706	c.1295G>T	c.(1294-1296)gGg>gTg	p.G432V	PHLDB1_ENST00000356063.5_Missense_Mutation_p.G432V	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	432										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)		TTTTCAGATGGGTTAGCCACC	0.642													5	171					1.23904e-05	1.32508e-05	1	1	0	T	118498834	G	T	118498834	3	4	154	1	0	0	0	0	1	0	0	0	11899	1232	43	4	1313	4	PHLDB1	11	118498834	Missense_Mutation	SNP	G	TCGA-G9-7523-01A-11D-2260-08	54080035	118498834	16507682	33	7292											
ANKRD33	341405	broad.mit.edu	37	chr12	52284995	52284995	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gccgaagcccagtccttcagGacaccaaagtctggcccttc	9	7	9	16	1	2	0	1	0	1	0	4	2	3	1	5	2	1	0	5	2	2	2			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr12:52284995G>A	ENST00000301190.6	+	5	1492	c.1265G>A	c.(1264-1266)gGa>gAa	p.G422E	ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000340970.4_Silent_p.R230R|ANKRD33_ENST00000538991.1_Silent_p.R161R	NM_001130015.1|NM_182608.3	NP_001123487.1|NP_872414.3	Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	0										endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		AGTCCTTCAGGACACCAAAGT	0.597													3	64					0	0	1	0	0	A	52284995	G	A	52284995	3	1	154	1	0	0	0	0	1	0	0	0	656	1174	41	2	1313	2	ANKRD33	12	52284995	Missense_Mutation	SNP	G	TCGA-G9-7523-01A-11D-2260-08		52284995	81566900	34	7293											
NXPH4	11247	broad.mit.edu	37	chr12	57619192	57619192	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcccccgctggggatggcaGcagcagcggcggggcccggg	4	2	21	14	4	0	0	0	0	0	0	0	1	0	1	3	8	3	4	3	8	0	0			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr12:57619192G>A	ENST00000349394.5	+	2	764	c.589G>A	c.(589-591)Gca>Aca	p.A197T	NXPH4_ENST00000555154.1_3'UTR	NM_007224.3	NP_009155.1	O95158	NXPH4_HUMAN	neurexophilin 4	197	IV (linker domain).				neuropeptide signaling pathway	extracellular region				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	10						GGGGATGGCAGCAGCAGCGGC	0.766													3	64					0	0	1	0	0	A	57619192	G	A	57619192	3	1	154	1	0	0	0	0	1	0	0	0	10841	971	34	2	595	2	NXPH4	12	57619192	Missense_Mutation	SNP	G	TCGA-G9-7523-01A-11D-2260-08	5334197	57619192	76232703	35	7294											
INHBE	83729	broad.mit.edu	37	chr12	57850338	57850338	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttgcaggcgagaccattacGtagacttccaggaactggga	11	8	13	9	2	0	2	0	0	0	2	1	5	1	4	2	3	3	3	2	3	3	4			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr12:57850338G>A	ENST00000266646.2	+	2	976	c.760G>A	c.(760-762)Gta>Ata	p.V254I	INHBE_ENST00000551553.1_3'UTR	NM_031479.3	NP_113667.1	P58166	INHBE_HUMAN	inhibin, beta E	254					growth	extracellular region	growth factor activity|hormone activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						AGACCATTACGTAGACTTCCA	0.627											OREG0021944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	222					0	0	1	0	0	A	57850338	G	A	57850338	3	1	154	1	0	0	0	0	1	0	0	0	7788	1145	40	1	766	1	INHBE	12	57850338	Missense_Mutation	SNP	G	TCGA-G9-7523-01A-11D-2260-08	231146	57850338	76001557	36	7295											
DPY19L2	283417	broad.mit.edu	37	chr12	64041106	64041106	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctagtccaaataaattcaTtattcccatgaatgtgcaat	14	15	4	8	0	2	1	1	1	1	0	4	1	4	1	2	0	1	1	2	0	7	6			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr12:64041106T>C	ENST00000324472.4	-	5	811	c.628A>G	c.(628-630)Atg>Gtg	p.M210V	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	210					multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		AATAAATTCATTATTCCCATG	0.318													3	135					0	0	1	0	0	C	64041106	T	C	64041106	3	2	154	1	0	0	0	0	1	0	0	0	4767	1493	52	3	1720	3	DPY19L2	12	64041106	Missense_Mutation	SNP	T	TCGA-G9-7523-01A-11D-2260-08	6190768	64041106	69810789	37	7296											
RAB35	11021	broad.mit.edu	37	chr12	120536625	120536625	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agggcctcacctcttccacgTtgacattctccttggcgctg	5	12	9	15	2	3	1	1	1	2	0	5	1	4	1	4	2	0	2	4	2	0	4			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr12:120536625T>C	ENST00000229340.5	-	5	655	c.467A>G	c.(466-468)aAc>aGc	p.N156S	RAB35_ENST00000432953.2_Intron|RAB35_ENST00000543364.1_5'UTR|RAB35_ENST00000534951.1_Intron	NM_001167606.1|NM_006861.6	NP_001161078.1|NP_006852.1	Q15286	RAB35_HUMAN	RAB35, member RAS oncogene family	156					cytokinesis|endosome transport|protein transport|small GTPase mediated signal transduction	cell projection membrane|clathrin-coated endocytic vesicle|coated pit|endosome|intercellular bridge|melanosome	GTP binding|GTPase activity|phosphatidylinositol-4,5-bisphosphate binding			endometrium(1)|ovary(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.248)		CTCTTCCACGTTGACATTCTC	0.597													3	59					0	0	1	0	0	C	120536625	T	C	120536625	3	2	154	1	0	0	0	0	1	0	0	0	12977	1725	60	3	146	3	RAB35	12	120536625	Missense_Mutation	SNP	T	TCGA-G9-7523-01A-11D-2260-08	56495519	120536625	13315270	38	7297											
TPTE2	93492	broad.mit.edu	37	chr13	20048175	20048175	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaaattaggtcggcaaggaGgagagtgacatccagtaaga	16	6	14	5	1	0	3	0	1	0	2	2	6	1	4	1	4	0	2	1	4	5	2			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr13:20048175G>C	ENST00000400230.2	-	6	315	c.271C>G	c.(271-273)Ctc>Gtc	p.L91V	TPTE2_ENST00000255310.6_Missense_Mutation_p.L54V|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000390680.2_Missense_Mutation_p.L54V|TPTE2_ENST00000382978.1_Missense_Mutation_p.L91V|TPTE2_ENST00000382977.4_Missense_Mutation_p.L91V|TPTE2_ENST00000382975.4_Missense_Mutation_p.L91V|TPTE2_ENST00000400103.2_Intron			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	91						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		TCGGCAAGGAGGAGAGTGACA	0.294													3	110					0	0	1	0	0	C	20048175	G	C	20048175	3	2	154	1	0	0	0	0	1	0	0	0	16492	1000	35	4	1357	4	TPTE2	13	20048175	Missense_Mutation	SNP	G	TCGA-G9-7523-01A-11D-2260-08		20048175	95121703	39	7298											
FREM2	341640	broad.mit.edu	37	chr13	39263499	39263499	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacagaccagttcacatttaGagtccaggataaccatgacc	14	8	7	12	0	1	3	1	1	0	2	2	4	2	4	4	1	1	1	4	1	2	4			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr13:39263499G>C	ENST00000280481.7	+	1	2234	c.2018G>C	c.(2017-2019)aGa>aCa	p.R673T		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	673					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TTCACATTTAGAGTCCAGGAT	0.562													5	143					0	0	1	0	0	C	39263499	G	C	39263499	3	2	154	1	0	0	0	0	1	0	0	0	6080	942	33	4	2020	4	FREM2	13	39263499	Missense_Mutation	SNP	G	TCGA-G9-7523-01A-11D-2260-08	19215324	39263499	75906379	40	7299											
FURIN	5045	broad.mit.edu	37	chr15	91422745	91422745	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctctgcccccttagcagcCggcatcattgctctcaccct	5	10	7	19	1	3	0	2	0	2	0	4	0	3	0	5	1	4	3	5	1	1	2			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr15:91422745C>T	ENST00000268171.3	+	10	1404	c.1125C>T	c.(1123-1125)gcC>gcT	p.A375A		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	375					cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CCTTAGCAGCCGGCATCATTG	0.617													17	120					0	0	1	0	0	T	91422745	C	T	91422745	2	4	154	1	0	0	0	0	0	0	0	1	6134	639	23	1		1	FURIN	15	91422745	Silent	SNP	C	TCGA-G9-7523-01A-11D-2260-08		91422745	11108647	41	7300											
CDT1	81620	broad.mit.edu	37	chr16	88873818	88873818	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagcgtctttgtgtccgaaCgcaagcctgcgctcagcatg	7	9	13	12	4	2	0	1	0	1	0	3	2	3	1	2	1	5	3	2	1	2	1	rs141750196		TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr16:88873818C>T	ENST00000301019.4	+	9	2024	c.1405C>T	c.(1405-1407)Cgc>Tgc	p.R469C		NM_030928.3	NP_112190.2	Q9H211	CDT1_HUMAN	chromatin licensing and DNA replication factor 1	469					DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(80;0.0476)		TGTGTCCGAACGCAAGCCTGC	0.662													3	92					0	0	1	0	0	T	88873818	C	T	88873818	3	4	154	1	0	0	0	0	1	0	0	0	3202	536	19	1	1439	1	CDT1	16	88873818	Missense_Mutation	SNP	C	TCGA-G9-7523-01A-11D-2260-08		88873818	1480935	42	7301											
CNTROB	116840	broad.mit.edu	37	chr17	7838456	7838456	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attggattcagagcatacccGccgcaaggtaagatgcaaac	14	7	10	10	2	1	2	1	0	0	2	1	3	1	3	2	2	4	4	2	2	4	4			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr17:7838456G>A	ENST00000380262.3	+	4	1512	c.587G>A	c.(586-588)cGc>cAc	p.R196H	CNTROB_ENST00000563694.1_Missense_Mutation_p.R196H|CNTROB_ENST00000565740.1_Missense_Mutation_p.R196H|CNTROB_ENST00000380255.3_Missense_Mutation_p.R196H	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	196					centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				GAGCATACCCGCCGCAAGGTA	0.562													3	58					0	0	1	0	0	A	7838456	G	A	7838456	3	1	154	1	0	0	0	0	1	0	0	0	3674	1087	38	1	601	1	CNTROB	17	7838456	Missense_Mutation	SNP	G	TCGA-G9-7523-01A-11D-2260-08		7838456	73356754	43	7302											
UBB	7314	broad.mit.edu	37	chr17	16285497	16285497	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcaagaccatcaccctggaAgtggagcccagtgacaccat	12	5	11	13	0	1	2	1	1	0	1	1	4	1	4	4	3	1	1	4	3	2	0			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr17:16285497A>G	ENST00000302182.3	+	2	668	c.276A>G	c.(274-276)gaA>gaG	p.E92E	UBB_ENST00000395837.1_Silent_p.E92E|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000535788.1_Intron|UBB_ENST00000395839.1_Silent_p.E92E|UBB_ENST00000578649.1_Intron	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN	ubiquitin B	92	Ubiquitin-like 2.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	p.E92E(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		TCACCCTGGAAGTGGAGCCCA	0.557													3	95					0	0	1	0	0	G	16285497	A	G	16285497	2	3	154	1	0	0	0	0	0	0	0	1	16902	69	3	3		3	UBB	17	16285497	Silent	SNP	A	TCGA-G9-7523-01A-11D-2260-08	8447041	16285497	64909713	44	7303											
CCL4L2	388372	broad.mit.edu	37	chr17	34641448	34641448	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtctgctccttgttctacAgattccaaaccaaaagaggc	11	11	7	12	0	2	2	0	0	2	2	4	2	4	2	3	1	3	2	3	1	4	4			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr17:34641448A>G	ENST00000394465.2	+	3	508		c.e3-1		CCL4L2_ENST00000482104.1_3'UTR|TBC1D3H_ENST00000535446.1_Intron|TBC1D3C_ENST00000451448.2_Intron|CCL4L2_ENST00000339270.6_Splice_Site|TBC1D3C_ENST00000308078.7_Intron|TBC1D3H_ENST00000400684.4_Intron			Q8NHW4	CC4L_HUMAN	chemokine (C-C motif) ligand 4-like 2						chemotaxis|immune response|inflammatory response	extracellular space	chemokine activity	p.?(1)		endometrium(1)	1		Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTTGTTCTACAGATTCCAAAC	0.522													3	137					0	0	1	0	0	G	34641448	A	G	34641448	5	3	154	1	0	0	0	0	0	0	1	0	2926	202	7	3	491	3	CCL4L2	17	34641448	Splice_Site	SNP	A	TCGA-G9-7523-01A-11D-2260-08	18355951	34641448	46553762	45	7304											
MED24	9862	broad.mit.edu	37	chr17	38179499	38179499	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaccttggcaaaaatgtccGtcagcacctctttgatgggc	9	10	10	12	1	2	1	1	1	1	0	3	1	3	1	3	2	1	3	3	2	2	2	rs145215690		TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr17:38179499G>A	ENST00000394126.1	-	19	2628	c.2210C>T	c.(2209-2211)aCg>aTg	p.T737M	MED24_ENST00000394128.2_Missense_Mutation_p.T712M|MED24_ENST00000501516.3_Missense_Mutation_p.T731M|MED24_ENST00000394127.2_Missense_Mutation_p.T699M|MED24_ENST00000356271.3_Missense_Mutation_p.T699M			O75448	MED24_HUMAN	mediator complex subunit 24	712					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.T712M(1)		autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					AAAAATGTCCGTCAGCACCTC	0.602													25	75					0	0	1	0	0	A	38179499	G	A	38179499	3	1	154	1	0	0	0	0	1	0	0	0	9492	1145	40	1	862	1	MED24	17	38179499	Missense_Mutation	SNP	G	TCGA-G9-7523-01A-11D-2260-08	3538051	38179499	43015711	46	7305											
CDC6	990	broad.mit.edu	37	chr17	38447897	38447897	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctggaaaaactgcctgcttaAgccggattctgcaagacctc	11	9	9	12	1	1	1	0	0	1	1	2	3	1	3	3	2	5	2	3	2	4	2			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr17:38447897A>G	ENST00000209728.4	+	4	1108	c.637A>G	c.(637-639)Agc>Ggc	p.S213G		NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6	213					cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						TGCCTGCTTAAGCCGGATTCT	0.408													9	102					0	0	1	0	0	G	38447897	A	G	38447897	3	3	154	1	0	0	0	0	1	0	0	0	3105	72	3	3	647	3	CDC6	17	38447897	Missense_Mutation	SNP	A	TCGA-G9-7523-01A-11D-2260-08	268398	38447897	42747313	47	7306											
CPAMD8	27151	broad.mit.edu	37	chr19	17068665	17068665	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaagaaatcttaatgtacctGatgttgagacaatgccaaat	17	11	7	6	0	1	3	0	2	1	2	1	4	1	3	2	0	2	2	2	0	6	3			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr19:17068665G>C	ENST00000443236.1	-	19	2446	c.2415C>G	c.(2413-2415)atC>atG	p.I805M	CPAMD8_ENST00000388925.4_3'UTR	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	758						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TAATGTACCTGATGTTGAGAC	0.438													5	345					0	0	1	0	0	C	17068665	G	C	17068665	3	2	154	1	0	0	0	0	1	0	0	0	3818	1280	45	4	3479	4	CPAMD8	19	17068665	Missense_Mutation	SNP	G	TCGA-G9-7523-01A-11D-2260-08		17068665	42060318	48	7307											
DPY19L3	147991	broad.mit.edu	37	chr19	32954298	32954298	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tacaaatcaacaatccgtggGtaaaatggaaaaaggcacag	19	6	9	7	1	1	0	1	0	0	0	2	1	2	1	1	3	2	2	1	3	8	2			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr19:32954298G>A	ENST00000342179.5	+	13	1564	c.1349G>A	c.(1348-1350)gGt>gAt	p.G450D	DPY19L3_ENST00000590651.1_3'UTR|DPY19L3_ENST00000392250.2_Missense_Mutation_p.G450D|DPY19L3_ENST00000586987.1_Missense_Mutation_p.G450D	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	450						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					CAATCCGTGGGTAAAATGGAA	0.338													3	110					0	0	1	0	0	A	32954298	G	A	32954298	3	1	154	1	0	0	0	0	1	0	0	0	4768	1261	44	2	1395	2	DPY19L3	19	32954298	Missense_Mutation	SNP	G	TCGA-G9-7523-01A-11D-2260-08	15885633	32954298	26174685	49	7308											
ATP9A	10079	broad.mit.edu	37	chr20	50234090	50234090	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgacgtcattgcctccgTcccctgcgagccacacagac	7	8	9	17	3	1	2	1	1	0	1	3	3	3	2	5	0	4	1	5	0	0	1			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr20:50234090T>C	ENST00000338821.5	-	22	2618	c.2354A>G	c.(2353-2355)gAc>gGc	p.D785G	ATP9A_ENST00000402822.1_Missense_Mutation_p.D664G|ATP9A_ENST00000311637.5_Missense_Mutation_p.D649G	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	785					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						ATTGCCTCCGTCCCCTGCGAG	0.517													3	27					0	0	1	0	0	C	50234090	T	C	50234090	3	2	154	1	0	0	0	0	1	0	0	0	1196	1667	58	3	817	3	ATP9A	20	50234090	Missense_Mutation	SNP	T	TCGA-G9-7523-01A-11D-2260-08		50234090	12791430	50	7309											
ADAMTS5	11096	broad.mit.edu	37	chr21	28327146	28327146	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaacatatggtcccaacGtctgccattcccagggtgtc	9	9	11	12	1	1	1	0	0	1	1	4	2	3	1	3	3	3	0	3	3	3	2			TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr21:28327146G>A	ENST00000284987.5	-	2	1270	c.1149C>T	c.(1147-1149)gaC>gaT	p.D383D		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	383	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						TGGTCCCAACGTCTGCCATTC	0.507													8	66					0	0	1	0	0	A	28327146	G	A	28327146	2	1	154	1	0	0	0	0	0	0	0	1	268	1136	40	1		1	ADAMTS5	21	28327146	Silent	SNP	G	TCGA-G9-7523-01A-11D-2260-08		28327146	19802749	51	7310											
MED15	51586	broad.mit.edu	37	chr22	20918916	20918918	+	In_Frame_Del	DEL	CAG	CAG	-																															tgcagcagcagcagcagctcCagcagcagcagcagcagcag																										TCGA-G9-7523-01A-11D-2260-08	TCGA-G9-7523-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d3e100b0-9027-432d-9ab6-2690e7753289	0b92342c-e2a3-4f38-9ed1-bd7f1aac35f7	g.chr22:20918916_20918918delCAG	ENST00000263205.7	+	6	700_702	c.631_633delCAG	c.(631-633)del	p.Q218del	MED15_ENST00000382974.2_In_Frame_Del_p.Q147del|MED15_ENST00000292733.7_In_Frame_Del_p.Q218del|MED15_ENST00000425759.2_In_Frame_Del_p.Q107del|MED15_ENST00000406969.1_In_Frame_Del_p.Q192del|MED15_ENST00000541476.1_In_Frame_Del_p.Q192del|MED15_ENST00000542773.1_In_Frame_Del_p.Q23del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	218	Poly-Gln.			Missing (in Ref. 4; CAG30423).	regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			gcagcagctccagcagcagcagc	0.567											OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	24	---	---	---	---						-	20918918	CAG	-	20918916	7	5	154	1	0	1	0	1	0	0	0	0	9483	595	21	0	653	0	MED15	22	20918916	In_Frame_Del	DEL	CAG	TCGA-G9-7523-01A-11D-2260-08		20918916	30385650	52	7311											
RERE	473	broad.mit.edu	37	chr1	8418294	8418294	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gctggtggaggtggaggtggGagtgaatgtgagagtgctgg	7	9	23	2	0	0	2	0	2	0	1	0	6	0	5	0	7	1	2	0	7	1	0			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr1:8418294G>A	ENST00000337907.3	-	21	4935	c.4301C>T	c.(4300-4302)tCc>tTc	p.S1434F	RERE_ENST00000377464.1_Missense_Mutation_p.S1166F|RERE_ENST00000400908.2_Missense_Mutation_p.S1434F|RERE_ENST00000400907.2_Intron|RERE_ENST00000476556.1_Missense_Mutation_p.S880F	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1434	His-rich.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		gtggaggtgggagtgaatgtg	0.642													15	12					0	0	1	0	0	A	8418294	G	A	8418294	3	1	155	1	0	0	0	0	1	0	0	0	13283	1174	41	2	415	2	RERE	1	8418294	Missense_Mutation	SNP	G	TCGA-G9-7525-01A-31D-2260-08		8418294	240832327	1	7312											
UBR4	23352	broad.mit.edu	37	chr1	19481549	19481549	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacacggacacaccaccgccCgccacctggctgttactgtc	8	7	8	18	3	0	0	0	0	0	0	1	1	0	1	5	2	2	2	5	2	2	2			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr1:19481549C>T	ENST00000375267.2	-	44	6324	c.6321G>A	c.(6319-6321)gcG>gcA	p.A2107A	UBR4_ENST00000375254.3_Silent_p.A2107A|UBR4_ENST00000375217.2_Silent_p.A2107A|UBR4_ENST00000375226.2_Silent_p.A2107A			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2107					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CACCACCGCCCGCCACCTGGC	0.483													10	151					0	0	1	0	0	T	19481549	C	T	19481549	2	4	155	1	0	0	0	0	0	0	0	1	16965	639	23	1		1	UBR4	1	19481549	Silent	SNP	C	TCGA-G9-7525-01A-31D-2260-08	11063255	19481549	229769072	2	7313											
SEPN1	57190	broad.mit.edu	37	chr1	26135249	26135249	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggctacctgtccaacaaccGcttctatccaccgccgccca	8	8	6	19	3	1	0	0	0	1	0	3	0	3	0	7	1	3	2	7	1	4	3			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr1:26135249G>A	ENST00000361547.2	+	5	771	c.716G>A	c.(715-717)cGc>cAc	p.R239H	SEPN1_ENST00000354177.4_Missense_Mutation_p.R205H|SEPN1_ENST00000374315.1_Missense_Mutation_p.R205H	NM_020451.2	NP_065184.2	Q9NZV5	SELN_HUMAN	selenoprotein N, 1	239						endoplasmic reticulum membrane|extracellular region	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		TCCAACAACCGCTTCTATCCA	0.667													4	145					0	0	1	0	0	A	26135249	G	A	26135249	3	1	155	1	0	0	0	0	1	0	0	0	14110	1087	38	1	734	1	SEPN1	1	26135249	Missense_Mutation	SNP	G	TCGA-G9-7525-01A-31D-2260-08	6653700	26135249	223115372	3	7314											
COL24A1	255631	broad.mit.edu	37	chr1	86210365	86210365	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttaccatctgatactttttgTtcacagttaagtaaatcttt	11	19	4	7	0	3	1	1	1	2	0	3	1	3	1	1	0	2	3	1	0	5	8			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr1:86210365T>G	ENST00000370571.2	-	57	5022	c.4656A>C	c.(4654-4656)gaA>gaC	p.E1552D	COL24A1_ENST00000436319.1_Missense_Mutation_p.E1531D	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1552	Fibrillar collagen NC1.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		ATACTTTTTGTTCACAGTTAA	0.373													13	62					0	0	1	0	0	G	86210365	T	G	86210365	3	3	155	1	0	0	0	0	1	0	0	0	3706	1722	60	5	504	5	COL24A1	1	86210365	Missense_Mutation	SNP	T	TCGA-G9-7525-01A-31D-2260-08	60075116	86210365	163040256	4	7315											
GDAP2	54834	broad.mit.edu	37	chr1	118426197	118426197	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggtgtgaaaatacactaatAcatactccttcacagcaatg	15	10	7	9	0	1	1	1	1	0	0	2	1	2	1	1	1	4	1	1	1	7	5			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr1:118426197A>C	ENST00000369443.4	-	11	1409	c.1160T>G	c.(1159-1161)gTa>gGa	p.V387G	GDAP2_ENST00000369442.3_Missense_Mutation_p.V387G|GDAP2_ENST00000464026.1_5'UTR	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2	387	CRAL-TRIO.									kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		ATACACTAATACATACTCCTT	0.363													3	40					0	0	1	0	0	C	118426197	A	C	118426197	3	2	155	1	0	0	0	0	1	0	0	0	6350	391	14	5	394	5	GDAP2	1	118426197	Missense_Mutation	SNP	A	TCGA-G9-7525-01A-31D-2260-08	32215832	118426197	130824424	5	7316											
NOTCH2	4853	broad.mit.edu	37	chr1	120611955	120611955	+	Frame_Shift_Del	DEL	G	G	-																															gcccgatactcaccatgcgcGggggccgcgcagcacagcca																										TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr1:120611955delG	ENST00000256646.2	-	1	285	c.66delC	c.(64-66)ccfs	p.P22fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	22					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CACCATGCGCGGGGGCCGCGC	0.756			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome				2	4	---	---	---	---						-	120611955	G	-	120611955	7	5	155	1	0	1	0	1	0	0	0	0	10595	1103	39	0	7485	0	NOTCH2	1	120611955	Frame_Shift_Del	DEL	G	TCGA-G9-7525-01A-31D-2260-08	2185758	120611955	128638666	6	7317											
IVNS1ABP	10625	broad.mit.edu	37	chr1	185267218	185267218	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cattcatttgactcaaggttAtagacttccaccgtattcag	11	14	6	10	1	3	2	3	1	0	1	4	2	4	2	2	1	0	2	2	1	4	7			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr1:185267218A>C	ENST00000367498.3	-	15	2500	c.1878T>G	c.(1876-1878)taT>taG	p.Y626*	IVNS1ABP_ENST00000392007.3_Nonsense_Mutation_p.Y408*|IVNS1ABP_ENST00000459929.1_5'UTR	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	626					interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						ACTCAAGGTTATAGACTTCCA	0.403													52	99					0	0	1	0	0	C	185267218	A	C	185267218	4	2	155	1	0	0	0	0	0	1	0	0	7974	456	16	5	54	5	IVNS1ABP	1	185267218	Nonsense_Mutation	SNP	A	TCGA-G9-7525-01A-31D-2260-08	64655263	185267218	63983403	7	7318											
PLA2G4A	5321	broad.mit.edu	37	chr1	186862236	186862236	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caataatgacataaaccctgTgtggaatgagacctttgaat	15	11	8	7	0	0	3	0	3	0	1	0	5	0	4	2	1	1	0	2	1	6	3			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr1:186862236T>G	ENST00000367466.3	+	4	361	c.209T>G	c.(208-210)gTg>gGg	p.V70G	PLA2G4A_ENST00000442353.2_Missense_Mutation_p.V70G|PLA2G4A_ENST00000466600.1_3'UTR	NM_024420.2	NP_077734.1	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	70	C2.|Phospholipid binding (Probable).				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity	p.V70E(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	ATAAACCCTGTGTGGAATGAG	0.378													19	151					0	0	1	0	0	G	186862236	T	G	186862236	3	3	155	1	0	0	0	0	1	0	0	0	12049	1696	59	5	219	5	PLA2G4A	1	186862236	Missense_Mutation	SNP	T	TCGA-G9-7525-01A-31D-2260-08	1595018	186862236	62388385	8	7319											
COL6A3	1293	broad.mit.edu	37	chr2	238289893	238289893	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagagcccgtgtacagggccGagccgtccaggggcttcatt	7	7	14	13	3	1	1	1	0	0	1	2	2	2	1	4	3	3	2	4	3	1	3	rs115881121	by1000genomes	TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr2:238289893G>A	ENST00000295550.4	-	5	2014	c.1562C>T	c.(1561-1563)tCg>tTg	p.S521L	COL6A3_ENST00000347401.3_Missense_Mutation_p.S320L|COL6A3_ENST00000409809.1_Missense_Mutation_p.S315L|COL6A3_ENST00000346358.4_Missense_Mutation_p.S521L|COL6A3_ENST00000353578.4_Missense_Mutation_p.S315L|COL6A3_ENST00000472056.1_Missense_Mutation_p.S114L|COL6A3_ENST00000392003.2_Missense_Mutation_p.S114L|COL6A3_ENST00000392004.3_Missense_Mutation_p.S315L	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	521	Nonhelical region.|VWFA 3.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.S521L(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GTACAGGGCCGAGCCGTCCAG	0.517													29	65					0	0	1	0	0	A	238289893	G	A	238289893	3	1	155	1	0	0	0	0	1	0	0	0	3724	1059	37	1	8178	1	COL6A3	2	238289893	Missense_Mutation	SNP	G	TCGA-G9-7525-01A-31D-2260-08		238289893	4909480	9	7320											
TRANK1	9881	broad.mit.edu	37	chr3	36898225	36898225	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggcctctgtgtcctccacAtagcagcgaggtatacgctt	7	11	10	13	3	1	0	0	0	1	0	4	1	3	0	3	2	3	3	3	2	3	4			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr3:36898225A>G	ENST00000301807.6	-	12	3103	c.1206T>C	c.(1204-1206)taT>taC	p.Y402Y	TRANK1_ENST00000428977.2_Silent_p.Y402Y|TRANK1_ENST00000429976.2_Silent_p.Y952Y	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	952					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TGTCCTCCACATAGCAGCGAG	0.498													5	216					0	0	1	0	0	G	36898225	A	G	36898225	2	3	155	1	0	0	0	0	0	0	0	1	16515	224	8	3		3	TRANK1	3	36898225	Silent	SNP	A	TCGA-G9-7525-01A-31D-2260-08		36898225	161124205	10	7321											
LTF	4057	broad.mit.edu	37	chr3	46490370	46490370	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctaccagcaccagggcgatgCagtcctctgtggtggaggcc	7	7	14	13	1	1	0	0	0	1	0	2	2	2	1	4	4	3	2	4	4	1	1			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr3:46490370C>T	ENST00000231751.4	-	9	1491	c.1196G>A	c.(1195-1197)tGc>tAc	p.C399Y	LTF_ENST00000417439.1_Missense_Mutation_p.C399Y|LTF_ENST00000426532.2_Missense_Mutation_p.C355Y	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	399	Transferrin-like 2.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	CAGGGCGATGCAGTCCTCTGT	0.637													11	56					0	0	1	0	0	T	46490370	C	T	46490370	3	4	155	1	0	0	0	0	1	0	0	0	9124	710	25	2	972	2	LTF	3	46490370	Missense_Mutation	SNP	C	TCGA-G9-7525-01A-31D-2260-08	9592145	46490370	151532060	11	7322											
PTPRG	5793	broad.mit.edu	37	chr3	62257083	62257083	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagggaaatcccaagggtcGtcagaatgaaagggtagtga	15	6	15	5	1	1	3	1	2	0	1	3	5	2	4	1	3	0	1	1	3	6	1			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr3:62257083G>A	ENST00000474889.1	+	21	3412	c.3035G>A	c.(3034-3036)cGt>cAt	p.R1012H	PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.R983H|PTPRG-AS1_ENST00000475371.1_RNA	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	1012	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CCCAAGGGTCGTCAGAATGAA	0.468													6	56					0	0	1	0	0	A	62257083	G	A	62257083	3	1	155	1	0	0	0	0	1	0	0	0	12854	1145	40	1	3117	1	PTPRG	3	62257083	Missense_Mutation	SNP	G	TCGA-G9-7525-01A-31D-2260-08	15766713	62257083	135765347	12	7323											
YEATS2	55689	broad.mit.edu	37	chr3	183474355	183474355	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagcccatcaccattgcctcGaaccccgacttccactccag	10	7	5	19	2	1	0	1	0	0	0	4	2	3	0	7	0	3	0	7	0	2	2			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr3:183474355G>A	ENST00000305135.5	+	12	1625	c.1430G>A	c.(1429-1431)cGa>cAa	p.R477Q		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	477					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CCATTGCCTCGAACCCCGACT	0.433													13	137					0	0	1	0	0	A	183474355	G	A	183474355	3	1	155	1	0	0	0	0	1	0	0	0	17532	1058	37	1	1472	1	YEATS2	3	183474355	Missense_Mutation	SNP	G	TCGA-G9-7525-01A-31D-2260-08	121217272	183474355	14548075	13	7324											
DHX15	1665	broad.mit.edu	37	chr4	24544582	24544582	+	Frame_Shift_Del	DEL	G	G	-																															ccttctgtttcgcaaatccaGgatcaatcacaaacaccaca																										TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr4:24544582delG	ENST00000336812.4	-	7	1472	c.1316delC	c.(1315-1317)ctfs	p.P439fs		NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	439	Helicase C-terminal.				mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				CGCAAATCCAGGATCAATCAC	0.313													17	107	---	---	---	---						-	24544582	G	-	24544582	7	5	155	1	0	1	0	1	0	0	0	0	4529	1000	35	0	1103	0	DHX15	4	24544582	Frame_Shift_Del	DEL	G	TCGA-G9-7525-01A-31D-2260-08		24544582	166609694	14	7325											
SPEF2	79925	broad.mit.edu	37	chr5	35692786	35692786	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagaaaaatgatgaagaagAtgctctaccagttctgcaag	16	9	9	7	0	3	5	1	2	2	3	3	5	3	5	1	0	3	3	1	0	6	2			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr5:35692786A>G	ENST00000440995.2	+	12	1859	c.1859A>G	c.(1858-1860)gAt>gGt	p.D620G	SPEF2_ENST00000509059.1_Missense_Mutation_p.D620G|SPEF2_ENST00000356031.3_Missense_Mutation_p.D620G|CTD-2113L7.1_ENST00000510433.1_RNA			Q9C093	SPEF2_HUMAN	sperm flagellar 2	620					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GATGAAGAAGATGCTCTACCA	0.393													3	59					0	0	1	0	0	G	35692786	A	G	35692786	3	3	155	1	0	0	0	0	1	0	0	0	15091	333	12	3	1926	3	SPEF2	5	35692786	Missense_Mutation	SNP	A	TCGA-G9-7525-01A-31D-2260-08		35692786	145222474	15	7326											
PCDHGA12	0	broad.mit.edu	37	chr5	140812323	140812323	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcaccgtggccgtggccgAcagcatcccccaagtcctgg	6	6	12	17	3	1	0	1	0	0	0	3	1	3	0	6	3	1	2	6	3	1	0			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr5:140812323A>G	ENST00000252085.3	+	1	2139	c.1997A>G	c.(1996-1998)gAc>gGc	p.D666G	PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCGTGGCCGACAGCATCCCC	0.662													4	115					0	0	1	0	0	G	140812323	A	G	140812323	3	3	155	1	0	0	0	0	1	0	0	0	11600	275	10	3	1999	3	PCDHGA12	5	140812323	Missense_Mutation	SNP	A	TCGA-G9-7525-01A-31D-2260-08	105119537	140812323	40102937	16	7327											
SYNPO	11346	broad.mit.edu	37	chr5	150029062	150029062	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggatgagaagcggcggcagAgggaccagggggaggtaggc	10	2	22	7	3	0	2	0	1	0	2	0	6	0	5	1	8	1	2	1	8	2	1			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr5:150029062A>C	ENST00000394243.1	+	3	2331	c.1957A>C	c.(1957-1959)Agg>Cgg	p.R653R	SYNPO_ENST00000307662.4_Silent_p.R409R|SYNPO_ENST00000522122.1_Silent_p.R653R|SYNPO_ENST00000519664.1_Silent_p.R409R	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	653					positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCGGCGGCAGAGGGACCAGGG	0.632													9	18					0	0	1	0	0	C	150029062	A	C	150029062	2	2	155	1	0	0	0	0	0	0	0	1	15513	295	11	5		5	SYNPO	5	150029062	Silent	SNP	A	TCGA-G9-7525-01A-31D-2260-08	9216739	150029062	30886198	17	7328											
VARS2	57176	broad.mit.edu	37	chr6	30882973	30882975	+	In_Frame_Del	DEL	TAG	TAG	-																															ggcctggaggcctaaggagtTagtattgtatgaaatcccta																										TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr6:30882973_30882975delTAG	ENST00000321897.5	+	2	874_876	c.242_244delTAG	c.(241-246)tta>t	p.LV81del	VARS2_ENST00000416670.2_In_Frame_Del_p.LV81del|VARS2_ENST00000542001.1_5'UTR|VARS2_ENST00000541562.1_In_Frame_Del_p.LV111del			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	81					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						CCTAAGGAGTTAGTATTGTATGA	0.468													20	79	---	---	---	---						-	30882975	TAG	-	30882973	7	5	155	1	0	1	0	1	0	0	0	0	17184	1764	61	0	342	0	VARS2	6	30882973	In_Frame_Del	DEL	TAG	TCGA-G9-7525-01A-31D-2260-08		30882973	140232094	18	7329											
CUTA	51596	broad.mit.edu	37	chr6	33384486	33384486	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacctggcgcacccactgcaGgtacggaaagttcccctgtt	8	8	11	14	2	0	0	0	0	0	0	1	2	1	1	4	3	2	5	4	3	2	3			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr6:33384486G>A	ENST00000488478.1	-	5	516	c.431C>T	c.(430-432)cCt>cTt	p.P144L	CUTA_ENST00000374496.3_Silent_p.L138L|CUTA_ENST00000607266.1_Silent_p.L138L|CUTA_ENST00000494751.1_Intron|CUTA_ENST00000488034.1_Silent_p.L161L|CUTA_ENST00000374500.5_Silent_p.L180L|CUTA_ENST00000440279.3_Silent_p.L138L			O60888	CUTA_HUMAN	cutA divalent cation tolerance homolog (E. coli)	0					protein localization|response to metal ion	membrane	enzyme binding		SLC22A1/CUTA(2)	kidney(1)|lung(3)|urinary_tract(1)	5						ACCCACTGCAGGTACGGAAAG	0.537													3	58					0	0	1	0	0	A	33384486	G	A	33384486	3	1	155	1	0	0	0	0	1	0	0	0	4085	991	35	2	62	2	CUTA	6	33384486	Missense_Mutation	SNP	G	TCGA-G9-7525-01A-31D-2260-08	2501513	33384486	137730581	19	7330											
RHAG	6005	broad.mit.edu	37	chr6	49580195	49580195	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgggtgaattgccatatccGcacaagtgcccacagcaact	12	8	9	12	1	0	1	0	1	0	0	1	1	1	1	3	1	4	2	3	1	4	2			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr6:49580195G>A	ENST00000371175.4	-	6	886	c.860C>T	c.(859-861)gCg>gTg	p.A287V	RHAG_ENST00000229810.7_Missense_Mutation_p.A287V	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	287					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					TGCCATATCCGCACAAGTGCC	0.473													3	70					0	0	1	0	0	A	49580195	G	A	49580195	3	1	155	1	0	0	0	0	1	0	0	0	13365	1087	38	1	389	1	RHAG	6	49580195	Missense_Mutation	SNP	G	TCGA-G9-7525-01A-31D-2260-08	16195709	49580195	121534872	20	7331											
C7orf31	136895	broad.mit.edu	37	chr7	25176304	25176304	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtacaatctggacaggaacGtggtctttgctggactatag	11	11	12	7	1	2	0	0	0	2	0	2	3	2	3	0	4	3	2	0	4	5	4			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr7:25176304G>A	ENST00000409280.1	-	10	1368	c.1060C>T	c.(1060-1062)Cgt>Tgt	p.R354C	C7orf31_ENST00000283905.3_Missense_Mutation_p.R354C			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	354										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						GGACAGGAACGTGGTCTTTGC	0.458													3	116					0	0	1	0	0	A	25176304	G	A	25176304	3	1	155	1	0	0	0	0	1	0	0	0	2403	1145	40	1	716	1	C7orf31	7	25176304	Missense_Mutation	SNP	G	TCGA-G9-7525-01A-31D-2260-08		25176304	133962359	21	7332											
PIK3CG	5294	broad.mit.edu	37	chr7	106513199	106513199	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgttttggttcttgagaagTgagatagcccagtccagaca	10	13	11	7	0	1	3	0	2	1	3	2	5	2	3	2	1	1	2	2	1	2	6			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr7:106513199T>C	ENST00000359195.3	+	4	2413	c.2103T>C	c.(2101-2103)agT>agC	p.S701S	PIK3CG_ENST00000496166.1_Silent_p.S701S|PIK3CG_ENST00000440650.2_Silent_p.S701S	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	701					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TCTTGAGAAGTGAGATAGCCC	0.448													23	36					0	0	1	0	0	C	106513199	T	C	106513199	2	2	155	1	0	0	0	0	0	0	0	1	11964	1693	59	3		3	PIK3CG	7	106513199	Silent	SNP	T	TCGA-G9-7525-01A-31D-2260-08	81336895	106513199	52625464	22	7333											
TTC26	79989	broad.mit.edu	37	chr7	138851601	138851601	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcagatgatgtacaagaagCttataacttaattaaggatc	16	13	7	5	0	1	3	1	1	0	2	2	4	1	4	0	1	3	2	0	1	7	6			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr7:138851601C>T	ENST00000464848.1	+	10	991	c.911C>T	c.(910-912)gCt>gTt	p.A304V	TTC26_ENST00000430935.1_Missense_Mutation_p.A304V|TTC26_ENST00000343187.4_Missense_Mutation_p.A273V|TTC26_ENST00000495038.1_Missense_Mutation_p.A173V|TTC26_ENST00000478836.2_Missense_Mutation_p.A197V|TTC26_ENST00000481482.1_3'UTR			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	304							binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						GTACAAGAAGCTTATAACTTA	0.348													5	56					0	0	1	0	0	T	138851601	C	T	138851601	3	4	155	1	0	0	0	0	1	0	0	0	16756	797	28	2	949	2	TTC26	7	138851601	Missense_Mutation	SNP	C	TCGA-G9-7525-01A-31D-2260-08	32338402	138851601	20287062	23	7334											
C9orf41	138199	broad.mit.edu	37	chr9	77599836	77599836	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttcttacctctaccttgaatCcatactgcagaacaacgttt	11	14	4	12	1	2	2	0	1	2	1	3	2	3	2	3	0	6	2	3	0	6	6			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr9:77599836C>T	ENST00000376834.3	-	7	1267	c.1115G>A	c.(1114-1116)gGa>gAa	p.G372E	C9orf41_ENST00000376837.3_3'UTR|RP11-197P3.4_ENST00000455609.1_RNA	NM_152420.1	NP_689633.1	Q8N4J0	CI041_HUMAN	chromosome 9 open reading frame 41	372										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2)	17						TACCTTGAATCCATACTGCAG	0.368													3	39					0	0	1	0	0	T	77599836	C	T	77599836	3	4	155	1	0	0	0	0	1	0	0	0	2500	855	30	2	122	2	C9orf41	9	77599836	Missense_Mutation	SNP	C	TCGA-G9-7525-01A-31D-2260-08		77599836	63613595	24	7335											
ZNF484	83744	broad.mit.edu	37	chr9	95609134	95609134	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagagatttgatctgtcagtAaaagcctttccacattcagc	13	12	7	9	0	3	2	2	1	1	1	4	3	4	2	2	0	2	1	2	0	3	4			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr9:95609134A>G	ENST00000395505.2	-	3	1919	c.1827T>C	c.(1825-1827)ttT>ttC	p.F609F	ZNF484_ENST00000375495.3_Silent_p.F645F|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395506.3_Silent_p.F647F|ZNF484_ENST00000332591.6_Silent_p.F609F	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	645					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						ATCTGTCAGTAAAAGCCTTTC	0.423													4	90					0	0	1	0	0	G	95609134	A	G	95609134	2	3	155	1	0	0	0	0	0	0	0	1	17994	359	13	3		3	ZNF484	9	95609134	Silent	SNP	A	TCGA-G9-7525-01A-31D-2260-08	18009298	95609134	45604297	25	7336											
DAB2IP	153090	broad.mit.edu	37	chr9	124532879	124532879	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctgagggacgtccacacaGcactgagcaccccaggtagc	10	5	11	15	1	0	2	0	2	0	0	2	3	2	3	4	2	3	3	4	2	1	1			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr9:124532879G>A	ENST00000408936.3	+	11	2136	c.1954G>A	c.(1954-1956)Gca>Aca	p.A652T	DAB2IP_ENST00000259371.2_Missense_Mutation_p.A624T|DAB2IP_ENST00000309989.1_Missense_Mutation_p.A528T			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	652					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity	p.A528>?(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CGTCCACACAGCACTGAGCAC	0.612													3	40					0	0	1	0	0	A	124532879	G	A	124532879	3	1	155	1	0	0	0	0	1	0	0	0	4243	971	34	2	1912	2	DAB2IP	9	124532879	Missense_Mutation	SNP	G	TCGA-G9-7525-01A-31D-2260-08	28923745	124532879	16680552	26	7337											
ITIH2	3698	broad.mit.edu	37	chr10	7751115	7751115	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcagaatgtcgtgtttgatgTtcagatccccaaaggagcat	11	12	10	8	1	2	3	2	1	0	2	4	4	3	4	2	1	1	3	2	1	2	2			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr10:7751115T>A	ENST00000358415.4	+	4	489	c.323T>A	c.(322-324)gTt>gAt	p.V108D	ITIH2_ENST00000480387.1_Intron|ITIH2_ENST00000379587.4_Missense_Mutation_p.V97D	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	108	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GTGTTTGATGTTCAGATCCCC	0.453													21	55					0	0	1	0	0	A	7751115	T	A	7751115	3	1	155	1	0	0	0	0	1	0	0	0	7948	1725	60	5	337	5	ITIH2	10	7751115	Missense_Mutation	SNP	T	TCGA-G9-7525-01A-31D-2260-08		7751115	127783632	27	7338											
ARMC3	219681	broad.mit.edu	37	chr10	23287302	23287302	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgctgtcaccgcaactgcGtgtgacgttgaagcccggac	7	8	12	14	5	1	2	1	2	0	0	2	3	1	3	2	1	3	3	2	1	2	1			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr10:23287302G>A	ENST00000298032.5	+	11	1485	c.1401G>A	c.(1399-1401)gcG>gcA	p.A467A	ARMC3_ENST00000376528.4_Silent_p.A204A|ARMC3_ENST00000409049.3_Silent_p.A467A|ARMC3_ENST00000409983.3_Silent_p.A467A	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	467							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CCGCAACTGCGTGTGACGTTG	0.458													13	15					0	0	1	0	0	A	23287302	G	A	23287302	2	1	155	1	0	0	0	0	0	0	0	1	951	1132	40	1		1	ARMC3	10	23287302	Silent	SNP	G	TCGA-G9-7525-01A-31D-2260-08	15536187	23287302	112247445	28	7339											
RTKN2	219790	broad.mit.edu	37	chr10	63959566	63959566	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagaacaaaggtggtttcCgtggtgacataatctcaatt	13	12	9	7	1	2	2	2	1	1	1	4	2	3	2	1	3	1	1	1	3	5	3			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr10:63959566C>T	ENST00000373789.3	-	11	1337	c.1241G>A	c.(1240-1242)cGg>cAg	p.R414Q	RTKN2_ENST00000395265.1_Missense_Mutation_p.R435Q|RTKN2_ENST00000315289.2_Missense_Mutation_p.R216Q	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	414					signal transduction	intracellular				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					AGGTGGTTTCCGTGGTGACAT	0.378													21	50					0	0	1	0	0	T	63959566	C	T	63959566	3	4	155	1	0	0	0	0	1	0	0	0	13775	652	23	1	596	1	RTKN2	10	63959566	Missense_Mutation	SNP	C	TCGA-G9-7525-01A-31D-2260-08	40672264	63959566	71575181	29	7340											
SUFU	51684	broad.mit.edu	37	chr10	104309804	104309804	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gagagaaactggggagtctgCcccaccaacatggcccgcag	11	4	13	13	1	1	1	0	0	1	1	1	4	1	2	4	3	3	1	4	3	2	0			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr10:104309804C>G	ENST00000369902.3	+	3	561	c.395C>G	c.(394-396)gCc>gGc	p.A132G	SUFU_ENST00000369899.2_Missense_Mutation_p.A132G|SUFU_ENST00000423559.2_Missense_Mutation_p.A132G	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	132					negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		GGGGAGTCTGCCCCACCAACA	0.522			"D, F, S"		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation				13	36					0	0	1	0	0	G	104309804	C	G	104309804	3	3	155	1	0	0	0	0	1	0	0	0	15424	739	26	4	405	4	SUFU	10	104309804	Missense_Mutation	SNP	C	TCGA-G9-7525-01A-31D-2260-08	40350238	104309804	31224943	30	7341											
MUC5B	727897	broad.mit.edu	37	chr11	1266624	1266624	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cacaccagggccacctccagGaccacggccacggccacacc	10	1	9	21	2	0	0	0	0	0	0	1	1	1	1	8	4	0	0	8	4	0	0			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr11:1266624G>T	ENST00000447027.1	+	31	8581	c.8523G>T	c.(8521-8523)agG>agT	p.R2841S	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.R2838S			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2838	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCACCTCCAGGACCACGGCCA	0.692													21	41					8.24728e-16	9.20947e-16	1	1	0	T	1266624	G	T	1266624	3	4	155	1	0	0	0	0	1	0	0	0	10027	1165	41	4	8645	4	MUC5B	11	1266624	Missense_Mutation	SNP	G	TCGA-G9-7525-01A-31D-2260-08		1266624	133739892	31	7342											
OR51S1	119692	broad.mit.edu	37	chr11	4869891	4869891	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gatgcaagcaataagaatggGttaggacctgtgggaggcag	13	7	16	5	0	0	1	0	0	0	1	0	4	0	3	1	4	2	4	1	4	5	2			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr11:4869891G>A	ENST00000322101.2	-	1	623	c.548C>T	c.(547-549)aCc>aTc	p.T183I	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATAAGAATGGGTTAGGACCTG	0.542													5	129					0	0	1	0	0	A	4869891	G	A	4869891	3	1	155	1	0	0	0	0	1	0	0	0	11153	1261	44	2	426	2	OR51S1	11	4869891	Missense_Mutation	SNP	G	TCGA-G9-7525-01A-31D-2260-08	3603267	4869891	130136625	32	7343											
TPP1	1200	broad.mit.edu	37	chr11	6640071	6640071	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagagtctttccacattctgCtgtctcagggcaaaggtgag	9	11	12	9	0	3	2	1	1	3	1	5	3	4	2	1	2	1	2	1	2	1	2			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr11:6640071C>T	ENST00000299427.6	-	3	225	c.165G>A	c.(163-165)caG>caA	p.Q55Q	TPP1_ENST00000533371.1_5'UTR|RP11-732A19.9_ENST00000545572.1_RNA|TPP1_ENST00000534644.1_Intron|TPP1_ENST00000528657.1_3'UTR	NM_000391.3	NP_000382.3	O14773	TPP1_HUMAN	tripeptidyl peptidase I	55					bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)		CCACATTCTGCTGTCTCAGGG	0.612													26	60					0	0	1	0	0	T	6640071	C	T	6640071	2	4	155	1	0	0	0	0	0	0	0	1	16472	796	28	2		2	TPP1	11	6640071	Silent	SNP	C	TCGA-G9-7525-01A-31D-2260-08	1770180	6640071	128366445	33	7344											
PRSS23	11098	broad.mit.edu	37	chr11	86519574	86519574	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgtatcgcttctgtgacGtcaaagacgagacctatgac	10	11	11	9	3	2	4	1	2	1	2	3	5	2	4	1	1	0	2	1	1	3	3			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr11:86519574G>A	ENST00000280258.5	+	2	1314	c.889G>A	c.(889-891)Gtc>Atc	p.V297I	PRSS23_ENST00000441050.1_Missense_Mutation_p.V265I|PRSS23_ENST00000533902.2_Intron	NM_007173.4	NP_009104.1	O95084	PRS23_HUMAN	protease, serine, 23	297					proteolysis	extracellular region|nucleus	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CTTCTGTGACGTCAAAGACGA	0.557													8	72					0	0	1	0	0	A	86519574	G	A	86519574	3	1	155	1	0	0	0	0	1	0	0	0	12669	1145	40	1	891	1	PRSS23	11	86519574	Missense_Mutation	SNP	G	TCGA-G9-7525-01A-31D-2260-08	79879503	86519574	48486942	34	7345											
SCNN1A	0	broad.mit.edu	37	chr12	6471351	6471351	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcggtaccactccctcacCgcatccacccctgatgagta	10	7	7	17	2	1	2	1	2	0	0	3	2	3	2	6	1	2	3	6	1	3	2			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr12:6471351C>T	ENST00000358945.3	-	3	1181	c.741G>A	c.(739-741)gcG>gcA	p.A247A	SCNN1A_ENST00000540037.1_5'UTR|SCNN1A_ENST00000360168.3_Silent_p.A306A|SCNN1A_ENST00000396966.2_Silent_p.A247A|SCNN1A_ENST00000228916.2_Silent_p.A247A|SCNN1A_ENST00000543768.1_Silent_p.A270A|SCNN1A_ENST00000538979.1_Intron			P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	247					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	ACTCCCTCACCGCATCCACCC	0.567													11	108					0	0	1	0	0	T	6471351	C	T	6471351	2	4	155	1	0	0	0	0	0	0	0	1	13981	639	23	1		1	SCNN1A	12	6471351	Silent	SNP	C	TCGA-G9-7525-01A-31D-2260-08		6471351	127380544	35	7346											
ANKRD52	283373	broad.mit.edu	37	chr12	56638565	56638565	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacattgtccgcgaaggcagCggcgtgaaggggggtcctgt	7	7	18	9	4	0	1	0	1	0	0	2	3	2	1	2	5	1	1	2	5	2	1			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr12:56638565C>T	ENST00000267116.7	-	24	2714	c.2593G>A	c.(2593-2595)Gct>Act	p.A865T		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	865							protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						GCGAAGGCAGCGGCGTGAAGG	0.582													3	63					0	0	1	0	0	T	56638565	C	T	56638565	3	4	155	1	0	0	0	0	1	0	0	0	672	768	27	1	657	1	ANKRD52	12	56638565	Missense_Mutation	SNP	C	TCGA-G9-7525-01A-31D-2260-08	50167214	56638565	77213330	36	7347											
ANKRD52	283373	broad.mit.edu	37	chr12	56647135	56647135	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcgtgtccatatcgagcaGccacatgcagtggcgtgttc	7	10	12	12	3	0	0	0	0	0	0	4	1	1	0	2	1	3	4	2	1	1	2			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr12:56647135G>A	ENST00000267116.7	-	10	1158	c.1037C>T	c.(1036-1038)gCt>gTt	p.A346V		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	346							protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						ATATCGAGCAGCCACATGCAG	0.582													59	94					0	0	1	0	0	A	56647135	G	A	56647135	3	1	155	1	0	0	0	0	1	0	0	0	672	971	34	2	2269	2	ANKRD52	12	56647135	Missense_Mutation	SNP	G	TCGA-G9-7525-01A-31D-2260-08	8570	56647135	77204760	37	7348											
TPH2	121278	broad.mit.edu	37	chr12	72425401	72425401	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccagaagtattgaaaatgtgGtgcaggaccttcgcagcgac	12	8	12	9	2	0	2	0	1	0	1	1	4	0	3	2	2	2	3	2	2	4	3			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr12:72425401G>T	ENST00000333850.3	+	11	1540	c.1399G>T	c.(1399-1401)Gtg>Ttg	p.V467L		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	467					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	TGAAAATGTGGTGCAGGACCT	0.418													4	170					0.000602214	0.000630443	1	1	0	T	72425401	G	T	72425401	3	4	155	1	0	0	0	0	1	0	0	0	16463	1261	44	4	1441	4	TPH2	12	72425401	Missense_Mutation	SNP	G	TCGA-G9-7525-01A-31D-2260-08	15778266	72425401	61426494	38	7349											
STOML3	0	broad.mit.edu	37	chr13	39541069	39541069	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtagaattcttctcggtggCtaccgtgctcaaggtctgca	7	12	11	11	3	4	1	1	0	3	1	5	1	4	1	1	3	3	4	1	3	4	4			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr13:39541069C>A	ENST00000379631.4	-	7	1113	c.769G>T	c.(769-771)Gcc>Tcc	p.A257S	STOML3_ENST00000423210.1_Missense_Mutation_p.A248S	NM_145286.2	NP_660329.1	Q8TAV4	STML3_HUMAN	stomatin (EPB72)-like 3	257						integral to membrane|plasma membrane				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		TTCTCGGTGGCTACCGTGCTC	0.493													4	51					0.00024832	0.000264086	1	1	0	A	39541069	C	A	39541069	3	1	155	1	0	0	0	0	1	0	0	0	15371	797	28	4	110	4	STOML3	13	39541069	Missense_Mutation	SNP	C	TCGA-G9-7525-01A-31D-2260-08		39541069	75628809	39	7350											
IL25	0	broad.mit.edu	37	chr14	23844881	23844881	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaggacctgtaccacgcccGttgcctgtgcccgcactgcg	5	7	11	18	4	0	0	0	0	0	0	0	1	0	1	6	1	4	3	6	1	1	2			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr14:23844881G>A	ENST00000329715.2	+	2	584	c.326G>A	c.(325-327)cGt>cAt	p.R109H	IL25_ENST00000397242.2_Missense_Mutation_p.R93H	NM_022789.3	NP_073626.1	Q9H293	IL25_HUMAN	interleukin 25	109					inflammatory response	extracellular space|membrane	cytokine activity|interleukin-17E receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)		TACCACGCCCGTTGCCTGTGC	0.632													12	103					0	0	1	0	0	A	23844881	G	A	23844881	3	1	155	1	0	0	0	0	1	0	0	0	7722	1145	40	1	345	1	IL25	14	23844881	Missense_Mutation	SNP	G	TCGA-G9-7525-01A-31D-2260-08		23844881	83504659	40	7351											
ZFP36L1	677	broad.mit.edu	37	chr14	69256720	69256720	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgggccccggccagggcacGgcgctcttcagcgttgtgga	4	6	16	15	5	2	0	1	0	1	0	2	1	2	1	4	5	1	3	4	5	0	2			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr14:69256720G>C	ENST00000439696.2	-	2	848	c.547C>G	c.(547-549)Cgt>Ggt	p.R183G	ZFP36L1_ENST00000336440.3_Missense_Mutation_p.R183G|ZFP36L1_ENST00000555997.1_3'UTR	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	183					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GCCAGGGCACGGCGCTCTTCA	0.672											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	19					0	0	1	0	0	C	69256720	G	C	69256720	3	2	155	1	0	0	0	0	1	0	0	0	17704	1116	39	4	473	4	ZFP36L1	14	69256720	Missense_Mutation	SNP	G	TCGA-G9-7525-01A-31D-2260-08	45411839	69256720	38092820	41	7352											
GANC	2595	broad.mit.edu	37	chr15	42631922	42631922	+	Nonsense_Mutation	SNP	C	C	A																															gagctgctagtgcgttggtaCcaggctggagcctaccagcc																										TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr15:42631922C>A	ENST00000318010.8	+	17	2139	c.1899C>A	c.(1897-1899)taC>taA	p.Y633*		NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	633					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		TGCGTTGGTACCAGGCTGGAG	0.562													3	106					1.23904e-05	1.33896e-05	1	1	0	A	42631922	C	A	42631922	4	1	155	1	0	0	0	0	0	1	0	0	6274	518	18	4	1965	4	GANC	15	42631922	Nonsense_Mutation	SNP	C	TCGA-G9-7525-01A-31D-2260-08		42631922	59899470	42	7353	39	2									
GANC	2595	broad.mit.edu	37	chr15	42631923	42631923	+	Missense_Mutation	SNP	C	C	A																															agctgctagtgcgttggtacCaggctggagcctaccagccc																										TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr15:42631923C>A	ENST00000318010.8	+	17	2140	c.1900C>A	c.(1900-1902)Cag>Aag	p.Q634K		NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	634					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		GCGTTGGTACCAGGCTGGAGC	0.567													3	105					1.23904e-05	1.33896e-05	1	1	0	A	42631923	C	A	42631923	3	1	155	1	0	0	0	0	1	0	0	0	6274	595	21	4	1966	4	GANC	15	42631923	Missense_Mutation	SNP	C	TCGA-G9-7525-01A-31D-2260-08	1	42631923	59899469	43	7354	39	2									
TGM7	116179	broad.mit.edu	37	chr15	43579553	43579553	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccctggctgaccactgctGtaggatggccacactgccct	6	8	11	16	0	0	1	0	1	0	0	0	2	0	2	5	3	2	3	5	3	1	1			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr15:43579553G>A	ENST00000452443.2	-	6	794	c.790C>T	c.(790-792)Cag>Tag	p.Q264*		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	264					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	GACCACTGCTGTAGGATGGCC	0.592													3	61					0	0	1	0	0	A	43579553	G	A	43579553	4	1	155	1	0	0	0	0	0	1	0	0	15895	1386	48	2	1374	2	TGM7	15	43579553	Nonsense_Mutation	SNP	G	TCGA-G9-7525-01A-31D-2260-08	947630	43579553	58951839	44	7355											
WDR72	256764	broad.mit.edu	37	chr15	53992051	53992051	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacaggaaaaaggtgcttcCgggcatgcaggaggcaactc	12	6	13	10	1	1	0	1	0	0	0	3	2	2	2	1	5	3	4	1	5	3	1			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr15:53992051C>T	ENST00000396328.1	-	13	1900	c.1661G>A	c.(1660-1662)cGg>cAg	p.R554Q	WDR72_ENST00000559418.1_Missense_Mutation_p.R564Q|WDR72_ENST00000557913.1_Missense_Mutation_p.R551Q|WDR72_ENST00000360509.5_Missense_Mutation_p.R554Q	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	554										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		AAGGTGCTTCCGGGCATGCAG	0.458													43	109					0	0	1	0	0	T	53992051	C	T	53992051	3	4	155	1	0	0	0	0	1	0	0	0	17382	652	23	1	1679	1	WDR72	15	53992051	Missense_Mutation	SNP	C	TCGA-G9-7525-01A-31D-2260-08	10412498	53992051	48539341	45	7356											
SOX8	30812	broad.mit.edu	37	chr16	1033810	1033810	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaagaaggaccaccccgacTacaagtaccagccacggcgc	14	2	9	16	3	0	1	0	0	0	1	0	3	0	2	5	2	3	1	5	2	5	2			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr16:1033810T>G	ENST00000293894.3	+	2	620	c.505T>G	c.(505-507)Tac>Gac	p.Y169D		NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8	169					adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis	cytoplasm|nucleus				central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10		Hepatocellular(780;0.00308)				CCACCCCGACTACAAGTACCA	0.682													3	40					0	0	1	0	0	G	1033810	T	G	1033810	3	3	155	1	0	0	0	0	1	0	0	0	15011	1522	53	5	511	5	SOX8	16	1033810	Missense_Mutation	SNP	T	TCGA-G9-7525-01A-31D-2260-08		1033810	89320943	46	7357											
AARS	16	broad.mit.edu	37	chr16	70287871	70287871	+	Frame_Shift_Del	DEL	T	T	-																															ggtccaagtcatccatgaccTtctttagggatttgagagtc																										TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr16:70287871delT	ENST00000261772.8	-	18	2614	c.2471delA	c.(2470-2472)agfs	p.K824fs		NM_001605.2	NP_001596.2	P49588	SYAC_HUMAN	alanyl-tRNA synthetase	824					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	ATCCATGACCTTCTTTAGGGA	0.552											OREG0023912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	165	---	---	---	---						-	70287871	T	-	70287871	7	5	155	1	0	1	0	1	0	0	0	0	19	1609	56	0	451	0	AARS	16	70287871	Frame_Shift_Del	DEL	T	TCGA-G9-7525-01A-31D-2260-08	69254061	70287871	20066882	47	7358											
MYO15A	51168	broad.mit.edu	37	chr17	18022689	18022689	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccggctccggaggttcccccGcagccgcagcatctacgcgt	5	6	12	18	6	1	0	0	0	1	0	3	1	3	1	5	3	3	5	5	3	1	2			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr17:18022689G>A	ENST00000205890.5	+	2	913	c.575G>A	c.(574-576)cGc>cAc	p.R192H		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	192	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AGGTTCCCCCGCAGCCGCAGC	0.711													3	25					0	0	1	0	0	A	18022689	G	A	18022689	3	1	155	1	0	0	0	0	1	0	0	0	10111	1087	38	1	577	1	MYO15A	17	18022689	Missense_Mutation	SNP	G	TCGA-G9-7525-01A-31D-2260-08		18022689	63172521	48	7359											
KIAA0100	9703	broad.mit.edu	37	chr17	26951278	26951278	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgaccaattcaataaggcaGtttcggttgtatatgtcatc	11	15	8	7	1	2	1	2	1	0	0	4	1	2	1	1	2	0	4	1	2	5	7			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr17:26951278G>A	ENST00000528896.2	-	25	4799	c.4725C>T	c.(4723-4725)aaC>aaT	p.N1575N	KIAA0100_ENST00000389003.3_Silent_p.N1432N|KIAA0100_ENST00000544884.1_Silent_p.N1432N	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1575						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CAATAAGGCAGTTTCGGTTGT	0.453													3	105					0	0	1	0	0	A	26951278	G	A	26951278	2	1	155	1	0	0	0	0	0	0	0	1	8196	1020	36	2		2	KIAA0100	17	26951278	Silent	SNP	G	TCGA-G9-7525-01A-31D-2260-08	8928589	26951278	54243932	49	7360											
HSF5	124535	broad.mit.edu	37	chr17	56565351	56565351	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtttgccgccccccggcccGcccagcaccaccttgcggaa	5	5	11	20	4	0	0	0	0	0	0	0	1	0	1	8	3	3	2	8	3	1	2			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr17:56565351G>A	ENST00000323777.3	-	1	394	c.285C>T	c.(283-285)ggC>ggT	p.G95G		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	95						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCCCCGGCCCGCCCAGCACCA	0.682													3	44					0	0	1	0	0	A	56565351	G	A	56565351	2	1	155	1	0	0	0	0	0	0	0	1	7440	1074	38	1		1	HSF5	17	56565351	Silent	SNP	G	TCGA-G9-7525-01A-31D-2260-08	29614073	56565351	24629859	50	7361											
NETO1	81832	broad.mit.edu	37	chr18	70423359	70423359	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acacatgttactatggcagaAgaatgtgttgccttcacaag	13	11	9	8	0	1	2	1	0	0	2	1	2	1	2	1	1	2	3	1	1	5	4			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr18:70423359A>C	ENST00000327305.6	-	8	1549	c.892T>G	c.(892-894)Ttc>Gtc	p.F298V	NETO1_ENST00000299430.2_Missense_Mutation_p.F297V|NETO1_ENST00000583169.1_Missense_Mutation_p.F298V	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	298	LDL-receptor class A.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		CTATGGCAGAAGAATGTGTTG	0.353													21	34					0	0	1	0	0	C	70423359	A	C	70423359	3	2	155	1	0	0	0	0	1	0	0	0	10386	72	3	5	721	5	NETO1	18	70423359	Missense_Mutation	SNP	A	TCGA-G9-7525-01A-31D-2260-08		70423359	7653889	51	7362											
OR7C1	26664	broad.mit.edu	37	chr19	14910064	14910064	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagggccctcttcatgtcCgtgttcctcaggctgtagat	5	12	10	14	1	3	1	2	0	1	1	5	1	5	1	4	2	0	3	4	2	1	3	rs147900560		TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr19:14910064C>A	ENST00000248073.2	-	1	959	c.885G>T	c.(883-885)acG>acT	p.T295T	OR7A5_ENST00000601611.1_Intron	NM_198944.1	NP_945182.1	O76099	OR7C1_HUMAN	olfactory receptor, family 7, subfamily C, member 1	295					sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						TCTTCATGTCCGTGTTCCTCA	0.522													3	83					0.00909568	0.00923349	1	1	0	A	14910064	C	A	14910064	2	1	155	1	0	0	0	0	0	0	0	1	11264	639	23	4		4	OR7C1	19	14910064	Silent	SNP	C	TCGA-G9-7525-01A-31D-2260-08		14910064	44218919	52	7363											
LIG1	3978	broad.mit.edu	37	chr19	48621022	48621022	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgcacgtaagggcgtgggCtgggcagcaccagcgcctgc	6	5	16	14	4	0	0	0	0	0	0	1	0	1	0	3	3	3	5	3	3	1	1			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr19:48621022C>A	ENST00000263274.7	-	26	2875	c.2456G>T	c.(2455-2457)aGc>aTc	p.S819I	LIG1_ENST00000427526.2_Missense_Mutation_p.S788I|LIG1_ENST00000536218.1_Missense_Mutation_p.S751I	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	819					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	AGGGCGTGGGCTGGGCAGCAC	0.622								Nucleotide excision repair (NER)					5	22					0.184627	0.184627	1	1	0	A	48621022	C	A	48621022	3	1	155	1	0	0	0	0	1	0	0	0	8821	797	28	4	315	4	LIG1	19	48621022	Missense_Mutation	SNP	C	TCGA-G9-7525-01A-31D-2260-08	33710958	48621022	10507961	53	7364											
PANK2	80025	broad.mit.edu	37	chr20	3893120	3893120	+	Frame_Shift_Del	DEL	T	T	-																															catagtcttggaggaggaacTttttttggtctctgctgtct																										TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr20:3893120delT	ENST00000497424.1	+	4	689	c.378delT	c.(376-378)acfs	p.T126fs	PANK2_ENST00000336066.3_3'UTR|PANK2_ENST00000316562.4_Frame_Shift_Del_p.T417fs	NM_024960.4|NM_153640.2	NP_079236.3|NP_705904.1	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	417			G -> A (in dbSNP:rs3737084).		cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GAGGAGGAACTTTTTTTGGTC	0.343													8	229	---	---	---	---						-	3893120	T	-	3893120	7	5	155	1	0	1	0	1	0	0	0	0	11464	1596	56	0	1265	0	PANK2	20	3893120	Frame_Shift_Del	DEL	T	TCGA-G9-7525-01A-31D-2260-08		3893120	59132400	54	7365											
TMEM184B	25829	broad.mit.edu	37	chr22	38641959	38641959	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctcatagcagtcgcggaCggtgccgaagtacacgtagt	10	7	12	12	5	1	0	1	0	0	0	2	2	1	1	2	2	3	3	2	2	4	3			TCGA-G9-7525-01A-31D-2260-08	TCGA-G9-7525-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e92edf41-954e-46d6-b1ec-63e2d070f16f	476829e1-ad0a-4621-9ec5-7e20e881c540	g.chr22:38641959C>T	ENST00000361906.3	-	3	548	c.340G>A	c.(340-342)Gtc>Atc	p.V114I	TMEM184B_ENST00000361684.4_Missense_Mutation_p.V114I	NM_001195072.1|NM_012264.4	NP_001182001.1|NP_036396.2	Q9Y519	T184B_HUMAN	transmembrane protein 184B	114						integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	8	Melanoma(58;0.045)					CAGTCGCGGACGGTGCCGAAG	0.647													17	22					0	0	1	0	0	T	38641959	C	T	38641959	3	4	155	1	0	0	0	0	1	0	0	0	16165	536	19	1	911	1	TMEM184B	22	38641959	Missense_Mutation	SNP	C	TCGA-G9-7525-01A-31D-2260-08		38641959	12662607	55	7366											
EXOSC10	5394	broad.mit.edu	37	chr1	11137678	11137678	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagcactgggcagcggtcCgctcttcttcactccggctg	4	10	11	16	3	4	0	2	0	2	0	6	0	6	0	2	3	2	4	2	3	0	2			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr1:11137678C>T	ENST00000544779.1	-	15	1785	c.1780G>A	c.(1780-1782)Gga>Aga	p.G594R	EXOSC10_ENST00000304457.7_Missense_Mutation_p.G594R|EXOSC10_ENST00000376936.4_Missense_Mutation_p.G594R			Q01780	EXOSX_HUMAN	exosome component 10	594					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		GGCAGCGGTCCGCTCTTCTTC	0.542													6	62					0	0	1	0	0	T	11137678	C	T	11137678	3	4	156	1	0	0	0	0	1	0	0	0	5341	661	23	1	921	1	EXOSC10	1	11137678	Missense_Mutation	SNP	C	TCGA-H9-7775-01A-11D-2114-08		11137678	238112943	1	7367											
EIF3I	8668	broad.mit.edu	37	chr1	32690027	32690027	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcaggggacaccaagcatgtCctcactggctcagctgacaa	11	7	10	13	0	3	1	3	1	0	0	4	2	4	2	2	3	2	3	2	3	2	0			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr1:32690027C>T	ENST00000373586.1	+	4	273	c.201C>T	c.(199-201)gtC>gtT	p.V67V	EIF3I_ENST00000471486.1_3'UTR	NM_003757.2	NP_003748.1	Q13347	EIF3I_HUMAN	eukaryotic translation initiation factor 3, subunit I	67						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)				CCAAGCATGTCCTCACTGGCT	0.483													6	80					0	0	1	0	0	T	32690027	C	T	32690027	2	4	156	1	0	0	0	0	0	0	0	1	5047	842	30	2		2	EIF3I	1	32690027	Silent	SNP	C	TCGA-H9-7775-01A-11D-2114-08	21552349	32690027	216560594	2	7368											
TM2D1	83941	broad.mit.edu	37	chr1	62189460	62189461	+	Splice_Site	INS	-	-	A																															ggatctttacaaatatatgtINSaaaaaaaaaagttaaggaaa																								rs147863719		TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr1:62189460_62189461insA	ENST00000371177.2	-	2	177		c.e2-2		TM2D1_ENST00000294613.5_Intron|TM2D1_ENST00000371180.2_Splice_Site|TM2D1_ENST00000606498.1_Intron			Q9BX74	TM2D1_HUMAN	TM2 domain containing 1						apoptosis					large_intestine(2)|lung(3)|ovary(1)	6						CAAATATATGTAAAAAAAAAAG	0.302													3	3	---	---	---	---						A	62189461	-	A	62189460	8	5	156	1	0	1	1	0	0	0	1	0	16023	1653	57	0		0	TM2D1	1	62189460	Splice_Site	INS	-	TCGA-H9-7775-01A-11D-2114-08	29499433	62189460	187061161	3	7369											
INADL	10207	broad.mit.edu	37	chr1	62253580	62253580	+	Frame_Shift_Del	DEL	C	C	-																															agctggtgacatttcagtcaCcccccctgcccctgcagcct																										TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr1:62253580delC	ENST00000371158.2	+	8	1118	c.1004delC	c.(1003-1005)acfs	p.T335fs	INADL_ENST00000316485.6_Frame_Shift_Del_p.T335fs	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	335					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						ATTTCAGTCACCCCCCCTGCC	0.502													7	137	---	---	---	---						-	62253580	C	-	62253580	7	5	156	1	0	1	0	1	0	0	0	0	7775	507	18	0	1030	0	INADL	1	62253580	Frame_Shift_Del	DEL	C	TCGA-H9-7775-01A-11D-2114-08	64120	62253580	186997041	4	7370											
TNNI3K	51086	broad.mit.edu	37	chr1	74929125	74929125	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catgaccatttggtttgcagCggctgcggcagcagacatgg	8	9	14	10	2	0	2	0	1	0	1	0	2	0	2	1	4	4	5	1	4	0	2			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr1:74929125C>T	ENST00000370891.2	+	23	2331	c.2314_splice	c.e23-1	p.A772_splice	TNNI3K_ENST00000326637.3_Splice_Site_p.A671_splice|FPGT-TNNI3K_ENST00000370899.3_Splice_Site_p.A772_splice|FPGT-TNNI3K_ENST00000557284.1_Splice_Site_p.A772_splice	NM_001112808.2	NP_001106279.1			TNNI3 interacting kinase									p.A671E(1)		cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						TGGTTTGCAGCGGCTGCGGCA	0.443													8	181					0	0	1	0	0	T	74929125	C	T	74929125	5	4	156	1	0	0	0	0	0	0	1	0	16389	782	27	1	2449	1	TNNI3K	1	74929125	Splice_Site	SNP	C	TCGA-H9-7775-01A-11D-2114-08	12675545	74929125	174321496	5	7371											
CRP	1401	broad.mit.edu	37	chr1	159683405	159683405	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acattaggactgaagggcccGccaagatagatggtgttaat	13	9	12	7	1	0	3	0	1	0	2	0	4	0	4	2	3	0	1	2	3	5	3			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr1:159683405G>A	ENST00000255030.5	-	2	688	c.585C>T	c.(583-585)ggC>ggT	p.G195G	CRP_ENST00000368111.1_Silent_p.G73G|CRP_ENST00000437342.1_Silent_p.G17G|CRP_ENST00000473196.1_5'UTR|CRP_ENST00000368112.1_Intron|CRP_ENST00000368110.1_Silent_p.G73G|CRP_ENST00000343919.2_Silent_p.G73G	NM_000567.2	NP_000558.2	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related	195	Pentaxin.				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding			breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	TGAAGGGCCCGCCAAGATAGA	0.532													21	82					0	0	1	0	0	A	159683405	G	A	159683405	2	1	156	1	0	0	0	0	0	0	0	1	3918	1074	38	1		1	CRP	1	159683405	Silent	SNP	G	TCGA-H9-7775-01A-11D-2114-08	84754280	159683405	89567216	6	7372											
FAM179A	165186	broad.mit.edu	37	chr2	29237325	29237325	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccaagaagcctgccctgccTttttctcagtctgctcccac	6	11	7	17	0	2	1	1	0	2	1	4	1	3	1	5	0	4	1	5	0	2	2			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr2:29237325T>C	ENST00000379558.4	+	8	1293	c.942T>C	c.(940-942)ccT>ccC	p.P314P	FAM179A_ENST00000403861.2_Silent_p.P314P	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	314							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CTGCCCTGCCTTTTTCTCAGT	0.582													2	11					0	0	1	0	0	C	29237325	T	C	29237325	2	2	156	1	0	0	0	0	0	0	0	1	5535	1596	56	3		3	FAM179A	2	29237325	Silent	SNP	T	TCGA-H9-7775-01A-11D-2114-08		29237325	213962048	7	7373											
CCDC141	285025	broad.mit.edu	37	chr2	179702244	179702244	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggagctgacaggctcttcCacctccatgtcagatggtgc	8	9	12	12	0	2	2	1	1	1	1	4	4	4	3	3	3	2	2	3	3	0	1			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr2:179702244C>A	ENST00000420890.2	-	23	3819	c.3702G>T	c.(3700-3702)gtG>gtT	p.V1234V	CCDC141_ENST00000480419.1_5'UTR|CCDC141_ENST00000295723.5_Silent_p.V659V	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	659							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CAGGCTCTTCCACCTCCATGT	0.572													3	47					1	1	1	1	0	A	179702244	C	A	179702244	2	1	156	1	0	0	0	0	0	0	0	1	2793	581	21	4		4	CCDC141	2	179702244	Silent	SNP	C	TCGA-H9-7775-01A-11D-2114-08	150464919	179702244	63497129	8	7374											
STAT4	6775	broad.mit.edu	37	chr2	191940981	191940981	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcatgttggctgcagccaatAttctcctctcttcccttaaa	8	14	6	13	0	2	0	0	0	2	0	5	0	3	0	3	1	2	4	3	1	4	5			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr2:191940981A>G	ENST00000392320.2	-	4	658	c.344T>C	c.(343-345)aTa>aCa	p.I115T	STAT4_ENST00000358470.4_Missense_Mutation_p.I115T	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	115			I -> V (in dbSNP:rs3024839).		JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			TGCAGCCAATATTCTCCTCTC	0.343													10	62					0	0	1	0	0	G	191940981	A	G	191940981	3	3	156	1	0	0	0	0	1	0	0	0	15323	449	16	3	1986	3	STAT4	2	191940981	Missense_Mutation	SNP	A	TCGA-H9-7775-01A-11D-2114-08	12238737	191940981	51258392	9	7375											
GSK3B	2932	broad.mit.edu	37	chr3	119635000	119635000	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggatataggctaaacttcGgaacagctgatacatataca	16	10	8	7	1	0	1	0	1	0	0	1	3	0	3	0	3	5	2	0	3	8	7			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr3:119635000G>A	ENST00000264235.8	-	5	1481	c.499C>T	c.(499-501)Cga>Tga	p.R167*	GSK3B_ENST00000316626.5_Nonsense_Mutation_p.R167*	NM_001146156.1|NM_002093.3	NP_001139628.1|NP_002084.2	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta	167	Protein kinase.				axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development	Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane	ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding			endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	GCTAAACTTCGGAACAGCTGA	0.348													20	45					0	0	1	0	0	A	119635000	G	A	119635000	4	1	156	1	0	0	0	0	0	1	0	0	6865	1124	39	1	834	1	GSK3B	3	119635000	Nonsense_Mutation	SNP	G	TCGA-H9-7775-01A-11D-2114-08		119635000	78387430	10	7376											
WWTR1	25937	broad.mit.edu	37	chr3	149260194	149260196	+	In_Frame_Del	DEL	CTG	CTG	-																															attctctgaagccgcagtttCtgctgctgctgctgctgagt																										TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr3:149260194_149260196delCTG	ENST00000465804.1	-	5	953_955	c.697_699delCAG	c.(697-699)del	p.Q233del	WWTR1_ENST00000467467.1_In_Frame_Del_p.Q233del|WWTR1_ENST00000360632.3_In_Frame_Del_p.Q233del	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	233	Gln-rich.				hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GCCGCAGTTTCTGCTGCTGCTGC	0.581			T	CAMTA1	epitheliod hemangioendothelioma								7	65	---	---	---	---						-	149260196	CTG	-	149260194	7	5	156	1	0	1	0	1	0	0	0	0	17477	912	32	0	519	0	WWTR1	3	149260194	In_Frame_Del	DEL	CTG	TCGA-H9-7775-01A-11D-2114-08	29625194	149260194	48762236	11	7377											
FAM53A	152877	broad.mit.edu	37	chr4	1643058	1643058	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccaggtccagctcccagcGggcccgggggaagacgccct	6	4	14	17	3	0	1	0	0	0	1	3	2	3	2	5	4	2	1	5	4	1	0	rs139786043		TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr4:1643058G>A	ENST00000308132.6	-	5	1351	c.1159C>T	c.(1159-1161)Cgc>Tgc	p.R387C	FAM53A_ENST00000461064.1_Missense_Mutation_p.R387C|FAM53A_ENST00000472884.2_Missense_Mutation_p.R387C|FAM53A_ENST00000489363.1_3'UTR	NM_001174070.1	NP_001167541.1	Q6NSI3	FA53A_HUMAN	family with sequence similarity 53, member A	387						nucleus				breast(2)|central_nervous_system(2)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		all_epithelial(65;0.206)|Breast(71;0.212)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)			AGCTCCCAGCGGGCCCGGGGG	0.701													4	67					0	0	1	0	0	A	1643058	G	A	1643058	3	1	156	1	0	0	0	0	1	0	0	0	5615	1116	39	1	41	1	FAM53A	4	1643058	Missense_Mutation	SNP	G	TCGA-H9-7775-01A-11D-2114-08		1643058	189511218	12	7378											
MRPL1	65008	broad.mit.edu	37	chr4	78815325	78815325	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaattgttgcagacttttaCgtagctgttccagaaataat	13	14	8	6	1	0	2	0	0	0	2	1	3	1	2	1	0	3	5	1	0	5	7	rs144344573	byFrequency	TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr4:78815325C>T	ENST00000315567.8	+	6	920	c.591C>T	c.(589-591)taC>taT	p.Y197Y	MRPL1_ENST00000506674.1_3'UTR	NM_020236.3	NP_064621.3	Q9BYD6	RM01_HUMAN	mitochondrial ribosomal protein L1	197							RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						CAGACTTTTACGTAGCTGTTC	0.308													12	68					0	0	1	0	0	T	78815325	C	T	78815325	2	4	156	1	0	0	0	0	0	0	0	1	9823	547	19	1		1	MRPL1	4	78815325	Silent	SNP	C	TCGA-H9-7775-01A-11D-2114-08	77172267	78815325	112338951	13	7379											
GRM1	2911	broad.mit.edu	37	chr6	146480672	146480672	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgtgaaggcatgacagtgCgaggactcctgagcgccatg	9	8	14	10	2	1	3	0	3	1	0	2	5	2	4	2	2	2	1	2	2	1	0			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr6:146480672C>T	ENST00000392299.2	+	3	1359	c.889C>T	c.(889-891)Cga>Tga	p.R297*	GRM1_ENST00000282753.1_Nonsense_Mutation_p.R297*|GRM1_ENST00000355289.4_Nonsense_Mutation_p.R297*|GRM1_ENST00000492807.2_Nonsense_Mutation_p.R297*|GRM1_ENST00000361719.2_Nonsense_Mutation_p.R297*|GRM1_ENST00000507907.1_Nonsense_Mutation_p.R297*			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	297					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.R297*(3)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CATGACAGTGCGAGGACTCCT	0.567													12	27					0	0	1	0	0	T	146480672	C	T	146480672	4	4	156	1	0	0	0	0	0	1	0	0	6837	760	27	1	895	1	GRM1	6	146480672	Nonsense_Mutation	SNP	C	TCGA-H9-7775-01A-11D-2114-08		146480672	24634395	14	7380											
CCR6	1235	broad.mit.edu	37	chr6	167550766	167550766	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcaggcttctcctgtgccGggaggtactcagaaaacatt	9	10	10	12	1	3	1	2	0	1	1	4	2	3	2	3	3	3	2	3	3	3	3			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr6:167550766G>A	ENST00000341935.5	+	3	1600	c.1048G>A	c.(1048-1050)Ggg>Agg	p.G350R	CCR6_ENST00000400926.2_Missense_Mutation_p.G350R|CCR6_ENST00000349984.4_Missense_Mutation_p.G350R	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	350					cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		CTCCTGTGCCGGGAGGTACTC	0.483													10	36					0	0	1	0	0	A	167550766	G	A	167550766	3	1	156	1	0	0	0	0	1	0	0	0	2967	1116	39	1	1054	1	CCR6	6	167550766	Missense_Mutation	SNP	G	TCGA-H9-7775-01A-11D-2114-08	21070094	167550766	3564301	15	7381											
SDK1	221935	broad.mit.edu	37	chr7	4167093	4167093	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgacatggacatccgtgccgGaacaggaccagaatgggctc	11	6	13	11	2	0	2	0	1	0	1	2	5	1	5	3	4	2	1	3	4	2	0			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr7:4167093G>A	ENST00000404826.2	+	26	4043	c.3904G>A	c.(3904-3906)Gaa>Aaa	p.E1302K	SDK1_ENST00000389531.3_Missense_Mutation_p.E1302K	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1302	Fibronectin type-III 7.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ATCCGTGCCGGAACAGGACCA	0.537													9	120					0	0	1	0	0	A	4167093	G	A	4167093	3	1	156	1	0	0	0	0	1	0	0	0	14022	1175	41	2	4006	2	SDK1	7	4167093	Missense_Mutation	SNP	G	TCGA-H9-7775-01A-11D-2114-08		4167093	154971570	16	7382											
RNF216	54476	broad.mit.edu	37	chr7	5780784	5780784	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggatgggcaggctgaggagaAgaggggcctgaaatcccacc	11	4	17	9	0	0	4	0	2	0	2	1	6	1	5	3	6	0	2	3	6	2	0			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr7:5780784A>C	ENST00000425013.2	-	4	917	c.693T>G	c.(691-693)tcT>tcG	p.S231S	RNF216_ENST00000389902.3_Silent_p.S288S	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	231					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		GCTGAGGAGAAGAGGGGCCTG	0.542													18	77					0	0	1	0	0	C	5780784	A	C	5780784	2	2	156	1	0	0	0	0	0	0	0	1	13532	59	3	5		5	RNF216	7	5780784	Silent	SNP	A	TCGA-H9-7775-01A-11D-2114-08	1613691	5780784	153357879	17	7383											
DMTF1	9988	broad.mit.edu	37	chr7	86795841	86795851	+	Frame_Shift_Del	DEL	ATAAAAGGCTT	ATAAAAGGCTT	-																															agatagtattgaacctccacAtaaaaggctttgtttgtcct																										TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr7:86795841_86795851delATAAAAGGCTT	ENST00000394703.5	+	6	715_725	c.152_162delATAAAAGGCTT	c.(151-162)cfs	p.HKRL51fs	DMTF1_ENST00000414194.2_5'UTR|DMTF1_ENST00000413276.2_Frame_Shift_Del_p.HKRL51fs|DMTF1_ENST00000331242.7_Frame_Shift_Del_p.HKRL51fs|DMTF1_ENST00000411766.2_Intron|DMTF1_ENST00000432937.2_5'UTR|DMTF1_ENST00000394702.3_Frame_Shift_Del_p.HKRL51fs	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	51	Interaction with CCND2 (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					GAACCTCCACATAAAAGGCTTTGTTTGTCCT	0.365													8	42	---	---	---	---						-	86795851	ATAAAAGGCTT	-	86795841	7	5	156	1	0	1	0	1	0	0	0	0	4620	217	8	0	158	0	DMTF1	7	86795841	Frame_Shift_Del	DEL	ATAAAAGGCTT	TCGA-H9-7775-01A-11D-2114-08	81015057	86795841	72342822	18	7384											
ARHGEF5	7984	broad.mit.edu	37	chr7	144062353	144062353	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtccagggggaggagcaggaGcactcggggaggacatatga	11	4	19	7	1	0	1	0	1	0	0	2	6	1	6	1	7	2	2	1	7	1	1			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr7:144062353G>A	ENST00000056217.5	+	2	2765	c.2591G>A	c.(2590-2592)aGc>aAc	p.S864N		NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	864					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					AGGAGCAGGAGCACTCGGGGA	0.602													4	123					0	0	1	0	0	A	144062353	G	A	144062353	3	1	156	1	0	0	0	0	1	0	0	0	906	971	34	2	2593	2	ARHGEF5	7	144062353	Missense_Mutation	SNP	G	TCGA-H9-7775-01A-11D-2114-08	57266512	144062353	15076310	19	7385											
CSMD1	64478	broad.mit.edu	37	chr8	2820915	2820915	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcggctgaggacacagcaCggctatttccaaagaacaaa	14	5	11	11	3	0	2	0	1	0	1	1	3	1	3	1	4	2	3	1	4	4	2			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr8:2820915C>T	ENST00000602557.1	-	61	9841	c.9286G>A	c.(9286-9288)Gtg>Atg	p.V3096M	CSMD1_ENST00000602723.1_Missense_Mutation_p.V2919M|CSMD1_ENST00000542608.1_Missense_Mutation_p.V2918M|CSMD1_ENST00000537824.1_Missense_Mutation_p.V3095M|CSMD1_ENST00000400186.3_Missense_Mutation_p.V2919M|CSMD1_ENST00000520002.1_Missense_Mutation_p.V3096M			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3096	Sushi 25.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GGACACAGCACGGCTATTTCC	0.498													79	44					0	0	1	0	0	T	2820915	C	T	2820915	3	4	156	1	0	0	0	0	1	0	0	0	3969	536	19	1	1455	1	CSMD1	8	2820915	Missense_Mutation	SNP	C	TCGA-H9-7775-01A-11D-2114-08		2820915	143543107	20	7386											
ZNF7	7553	broad.mit.edu	37	chr8	146066910	146066910	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagtcatctgggcagtcccGggctgaaagtgacaggcttt	9	9	13	10	1	2	2	1	2	1	0	3	2	3	2	1	3	0	3	1	3	1	1			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr8:146066910G>A	ENST00000528372.1	+	5	658	c.418G>A	c.(418-420)Ggg>Agg	p.G140R	ZNF7_ENST00000532393.1_3'UTR|ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000325241.6_Missense_Mutation_p.G140R|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000446747.2_Missense_Mutation_p.G151R|ZNF7_ENST00000544249.1_Missense_Mutation_p.G44R|ZNF7_ENST00000529819.1_Intron			P17097	ZNF7_HUMAN	zinc finger protein 7	140					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		GGGCAGTCCCGGGCTGAAAGT	0.507													5	150					0	0	1	0	0	A	146066910	G	A	146066910	3	1	156	1	0	0	0	0	1	0	0	0	18158	1116	39	1	432	1	ZNF7	8	146066910	Missense_Mutation	SNP	G	TCGA-H9-7775-01A-11D-2114-08	143245995	146066910	297112	21	7387											
PAPPA	5069	broad.mit.edu	37	chr9	119065088	119065088	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggggtatgtgaggagttTgaacaaaaaaccagcattaa	16	9	12	4	0	0	2	0	2	0	0	0	4	0	3	1	3	3	3	1	3	6	3			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr9:119065088T>C	ENST00000328252.3	+	10	3375	c.3006T>C	c.(3004-3006)ttT>ttC	p.F1002F	PAPPA_ENST00000534838.1_Silent_p.F40F|RP11-45A16.4_ENST00000451100.1_RNA	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1002					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GTGAGGAGTTTGAACAAAAAA	0.438													3	67					0	0	1	0	0	C	119065088	T	C	119065088	2	2	156	1	0	0	0	0	0	0	0	1	11479	1809	63	3		3	PAPPA	9	119065088	Silent	SNP	T	TCGA-H9-7775-01A-11D-2114-08		119065088	22148343	22	7388											
RASGEF1A	221002	broad.mit.edu	37	chr10	43696237	43696237	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgtctacagccggtggccGgagcttctctcgcagttcct	4	12	11	14	3	2	0	0	0	2	0	5	1	3	1	3	3	3	3	3	3	1	4	rs144867552		TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr10:43696237G>A	ENST00000395809.1	-	5	3065	c.559C>T	c.(559-561)Cgg>Tgg	p.R187W	RASGEF1A_ENST00000374459.1_Missense_Mutation_p.R195W|RASGEF1A_ENST00000472864.1_5'UTR|RASGEF1A_ENST00000395810.1_Missense_Mutation_p.R187W			Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	187					cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						GCCGGTGGCCGGAGCTTCTCT	0.637													16	54					0	0	1	0	0	A	43696237	G	A	43696237	3	1	156	1	0	0	0	0	1	0	0	0	13121	1115	39	1	922	1	RASGEF1A	10	43696237	Missense_Mutation	SNP	G	TCGA-H9-7775-01A-11D-2114-08		43696237	91838510	23	7389											
GPAM	57678	broad.mit.edu	37	chr10	113920464	113920464	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggtgataaaaaactcatCgttcctgctagtgtgggtga	10	11	14	6	1	1	2	1	2	0	0	3	2	2	2	1	3	2	2	1	3	4	3	rs151269022		TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr10:113920464C>A	ENST00000348367.4	-	16	1854	c.1657G>T	c.(1657-1659)Gat>Tat	p.D553Y	GPAM_ENST00000369425.1_Missense_Mutation_p.D553Y|GPAM_ENST00000423155.1_Missense_Mutation_p.D553Y			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	553					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		AAAAACTCATCGTTCCTGCTA	0.448													7	48					0.00198382	0.00210528	1	1	0	A	113920464	C	A	113920464	3	1	156	1	0	0	0	0	1	0	0	0	6628	884	31	4	857	4	GPAM	10	113920464	Missense_Mutation	SNP	C	TCGA-H9-7775-01A-11D-2114-08	70224227	113920464	21614283	24	7390											
LRFN4	78999	broad.mit.edu	37	chr11	66625511	66625511	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggggacctcgagagcctgcGttccctccaccttgacggca	6	8	12	15	3	0	2	0	1	0	1	3	4	2	3	5	3	2	2	5	3	0	2			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr11:66625511G>A	ENST00000309602.4	+	1	539	c.296G>A	c.(295-297)cGt>cAt	p.R99H	PC_ENST00000393955.2_Intron|LRFN4_ENST00000393952.3_Missense_Mutation_p.R99H|PC_ENST00000393960.1_Intron|PC_ENST00000393958.2_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	99						integral to membrane				breast(1)|lung(1)|prostate(1)	3						GAGAGCCTGCGTTCCCTCCAC	0.657													26	41					0	0	1	0	0	A	66625511	G	A	66625511	3	1	156	1	0	0	0	0	1	0	0	0	8985	1145	40	1	298	1	LRFN4	11	66625511	Missense_Mutation	SNP	G	TCGA-H9-7775-01A-11D-2114-08		66625511	68381005	25	7391											
FAT3	120114	broad.mit.edu	37	chr11	92568223	92568223	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgcggttatcagtgaagaCgccttggtgggagactctgt	8	11	15	7	2	2	3	1	1	1	2	2	4	2	3	1	3	1	1	1	3	2	2			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr11:92568223C>T	ENST00000298047.6	+	14	10076	c.10059C>T	c.(10057-10059)gaC>gaT	p.D3353D	FAT3_ENST00000409404.2_Silent_p.D3353D|FAT3_ENST00000525166.1_Silent_p.D3203D			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3353	Cadherin 31.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCAGTGAAGACGCCTTGGTGG	0.488										TCGA Ovarian(4;0.039)			4	19					0	0	1	0	0	T	92568223	C	T	92568223	2	4	156	1	0	0	0	0	0	0	0	1	5724	535	19	1		1	FAT3	11	92568223	Silent	SNP	C	TCGA-H9-7775-01A-11D-2114-08	25942712	92568223	42438293	26	7392											
MGAT4C	25834	broad.mit.edu	37	chr12	86373542	86373542	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catccttcagcttattctccGtccctttgtatgatgaataa	9	16	5	11	1	2	2	1	2	1	0	5	2	4	2	3	0	1	2	3	0	4	6	rs145801611	byFrequency	TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr12:86373542G>A	ENST00000604798.1	-	8	2166	c.962C>T	c.(961-963)aCg>aTg	p.T321M	MGAT4C_ENST00000393205.2_Missense_Mutation_p.T350M|MGAT4C_ENST00000548651.1_Missense_Mutation_p.T321M|MGAT4C_ENST00000552808.2_Missense_Mutation_p.T321M|MGAT4C_ENST00000552435.2_Silent_p.D109D|MGAT4C_ENST00000332156.1_Missense_Mutation_p.T321M|MGAT4C_ENST00000549405.2_Missense_Mutation_p.T321M			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	321					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	p.T321M(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CTTATTCTCCGTCCCTTTGTA	0.403													16	36					0	0	1	0	0	A	86373542	G	A	86373542	3	1	156	1	0	0	0	0	1	0	0	0	9597	1145	40	1	478	1	MGAT4C	12	86373542	Missense_Mutation	SNP	G	TCGA-H9-7775-01A-11D-2114-08		86373542	47478353	27	7393											
TCTN2	79867	broad.mit.edu	37	chr12	124171429	124171429	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gttcagacggtcctgcttcaCcggcgtgtttggaggagacg	6	10	15	10	4	2	2	2	0	0	2	3	4	3	3	2	4	1	3	2	4	0	3			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr12:124171429C>A	ENST00000303372.5	+	6	739	c.611C>A	c.(610-612)aCc>aAc	p.T204N	TCTN2_ENST00000426174.2_Missense_Mutation_p.T203N	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	204					cilium assembly|smoothened signaling pathway	integral to membrane				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		TCCTGCTTCACCGGCGTGTTT	0.527													54	78					1.13205e-32	1.2797e-32	1	1	0	A	124171429	C	A	124171429	3	1	156	1	0	0	0	0	1	0	0	0	15782	507	18	4	633	4	TCTN2	12	124171429	Missense_Mutation	SNP	C	TCGA-H9-7775-01A-11D-2114-08	37797887	124171429	9680466	28	7394											
EP400	57634	broad.mit.edu	37	chr12	132466837	132466837	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagtttgcacagcagccGcaagtggtagaggcccagac	10	6	13	12	1	0	2	0	0	0	2	0	2	0	2	2	2	4	6	2	2	2	2			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr12:132466837G>T	ENST00000333577.4	+	6	1960	c.1851G>T	c.(1849-1851)ccG>ccT	p.P617P	EP400_ENST00000389562.2_Silent_p.P580P|EP400_ENST00000389561.2_Silent_p.P581P|EP400_ENST00000332482.4_Silent_p.P544P|EP400_ENST00000330386.6_Silent_p.P581P			Q96L91	EP400_HUMAN	E1A binding protein p400	617					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CACAGCAGCCGCAAGTGGTAG	0.657													11	94					0.0135373	0.0140788	1	1	0	T	132466837	G	T	132466837	2	4	156	1	0	0	0	0	0	0	0	1	5177	1074	38	4		4	EP400	12	132466837	Silent	SNP	G	TCGA-H9-7775-01A-11D-2114-08	8295408	132466837	1385058	29	7395											
PAPLN	89932	broad.mit.edu	37	chr14	73719446	73719446	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccacggccagctgaccggCgttcctgcaatcttcaccct	7	8	9	17	3	2	1	1	1	1	0	3	1	3	1	5	2	3	3	5	2	1	2			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr14:73719446C>T	ENST00000427855.1	+	11	1159	c.1057C>T	c.(1057-1059)Cgt>Tgt	p.R353C	PAPLN_ENST00000381166.3_Missense_Mutation_p.R353C|PAPLN_ENST00000340738.5_Missense_Mutation_p.R326C|PAPLN_ENST00000555445.1_Missense_Mutation_p.R353C|PAPLN_ENST00000554301.1_Missense_Mutation_p.R353C			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	353	TSP type-1 2.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		AGCTGACCGGCGTTCCTGCAA	0.632													50	99					0	0	1	0	0	T	73719446	C	T	73719446	3	4	156	1	0	0	0	0	1	0	0	0	11475	768	27	1	1010	1	PAPLN	14	73719446	Missense_Mutation	SNP	C	TCGA-H9-7775-01A-11D-2114-08		73719446	33630094	30	7396											
KCNK10	54207	broad.mit.edu	37	chr14	88658679	88658679	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgacagcagggatcgtcaCaaacacaatgcagccggcca	14	4	11	12	2	1	1	1	1	0	0	2	3	1	2	2	2	4	2	2	2	2	0			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr14:88658679C>T	ENST00000340700.5	-	5	1193	c.742G>A	c.(742-744)Gtg>Atg	p.V248M	KCNK10_ENST00000319231.5_Missense_Mutation_p.V253M|KCNK10_ENST00000312350.5_Missense_Mutation_p.V253M	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	248					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						GGGATCGTCACAAACACAATG	0.498													40	96					0	0	1	0	0	T	88658679	C	T	88658679	3	4	156	1	0	0	0	0	1	0	0	0	8103	478	17	2	886	2	KCNK10	14	88658679	Missense_Mutation	SNP	C	TCGA-H9-7775-01A-11D-2114-08	14939233	88658679	18690861	31	7397											
TRPV3	162514	broad.mit.edu	37	chr17	3445844	3445844	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctcctctgtgtactcggcGttgatgaacctgcccaggat	6	11	11	13	2	1	2	0	2	1	0	3	3	2	3	4	2	3	2	4	2	2	2			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr17:3445844G>A	ENST00000301365.4	-	6	746	c.615C>T	c.(613-615)aaC>aaT	p.N205N	TRPV3_ENST00000572519.1_Silent_p.N205N|TRPV3_ENST00000576742.1_Silent_p.N205N			Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	205						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	TGTACTCGGCGTTGATGAACC	0.562													13	25					0	0	1	0	0	A	3445844	G	A	3445844	2	1	156	1	0	0	0	0	0	0	0	1	16658	1136	40	1		1	TRPV3	17	3445844	Silent	SNP	G	TCGA-H9-7775-01A-11D-2114-08		3445844	77749366	32	7398											
ZZEF1	23140	broad.mit.edu	37	chr17	3917452	3917452	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccactcggtgttgctcatgTcggaggtgaagcggtaatac	8	10	13	10	3	1	1	1	1	0	0	3	2	1	2	1	4	3	3	1	4	3	3			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr17:3917452T>C	ENST00000381638.2	-	51	8469	c.8345A>G	c.(8344-8346)gAc>gGc	p.D2782G		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2782							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GTTGCTCATGTCGGAGGTGAA	0.572													6	56					0	0	1	0	0	C	3917452	T	C	3917452	3	2	156	1	0	0	0	0	1	0	0	0	18295	1667	58	3	560	3	ZZEF1	17	3917452	Missense_Mutation	SNP	T	TCGA-H9-7775-01A-11D-2114-08	471608	3917452	77277758	33	7399											
DNAH9	1770	broad.mit.edu	37	chr17	11833352	11833352	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaactccattaagatcaccaAtgagccccccacgggcatgc	12	6	8	15	1	1	2	1	1	0	1	2	3	2	2	5	1	3	1	5	1	3	1			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr17:11833352A>G	ENST00000262442.3	+	63	12115	c.12047A>G	c.(12046-12048)aAt>aGt	p.N4016S	DNAH9_ENST00000454412.2_Intron|DNAH9_ENST00000396001.2_Missense_Mutation_p.N328S	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4016	AAA 6 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AAGATCACCAATGAGCCCCCC	0.602													3	48					0	0	1	0	0	G	11833352	A	G	11833352	3	3	156	1	0	0	0	0	1	0	0	0	4635	101	4	3	12297	3	DNAH9	17	11833352	Missense_Mutation	SNP	A	TCGA-H9-7775-01A-11D-2114-08	7915900	11833352	69361858	34	7400											
TRIM16	10626	broad.mit.edu	37	chr17	15532066	15532066	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaatttgcaggcaaacttgtGaaccagagtcatggtatcat	14	11	9	7	0	2	2	2	1	0	1	2	2	2	2	1	2	3	3	1	2	4	3			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr17:15532066G>A	ENST00000578237.1	-	11	2413	c.1558C>T	c.(1558-1560)Cac>Tac	p.H520Y	TRIM16_ENST00000579219.1_3'UTR|RP11-385D13.1_ENST00000455584.2_Intron|TRIM16_ENST00000336708.7_Missense_Mutation_p.H520Y|TRIM16_ENST00000416464.2_Missense_Mutation_p.H390Y|TRIM16_ENST00000577886.1_Missense_Mutation_p.H304Y					tripartite motif containing 16											breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	19				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)		GCAAACTTGTGAACCAGAGTC	0.507													24	37					0	0	1	0	0	A	15532066	G	A	15532066	3	1	156	1	0	0	0	0	1	0	0	0	16552	1290	45	2	140	2	TRIM16	17	15532066	Missense_Mutation	SNP	G	TCGA-H9-7775-01A-11D-2114-08	3698714	15532066	65663144	35	7401											
EBI3	10148	broad.mit.edu	37	chr19	4231190	4231190	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctttctgtcttcctccagggCccccagcagctctgacactg	5	11	8	17	0	3	1	0	1	3	0	5	1	5	1	4	1	2	2	4	1	0	2			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr19:4231190C>T	ENST00000221847.5	+	2	123	c.70C>T	c.(70-72)Ccc>Tcc	p.P24S		NM_005755.2	NP_005746.2	Q14213	IL27B_HUMAN	Epstein-Barr virus induced 3	24	Fibronectin type-III 1.				humoral immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of interferon-gamma biosynthetic process|T-helper 1 type immune response	extracellular space|plasma membrane	cytokine activity|cytokine receptor activity			large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0336)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCTCCAGGGCCCCCAGCAGC	0.642													12	28					0	0	1	0	0	T	4231190	C	T	4231190	3	4	156	1	0	0	0	0	1	0	0	0	4909	739	26	2	76	2	EBI3	19	4231190	Missense_Mutation	SNP	C	TCGA-H9-7775-01A-11D-2114-08		4231190	54897793	36	7402											
SEMA6B	10501	broad.mit.edu	37	chr19	4543619	4543619	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggggcccccggcctagggCacggggggcgcagtcctgtc	3	4	20	14	3	0	0	0	0	0	0	2	0	1	0	4	8	0	2	4	8	1	1			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr19:4543619C>T	ENST00000586582.1	-	17	2971	c.2661G>A	c.(2659-2661)gtG>gtA	p.V887V	SEMA6B_ENST00000586965.1_Intron|SEMA6B_ENST00000301293.3_Silent_p.V887V	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	887					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGCCTAGGGCACGGGGGGCG	0.766													3	9					0	0	1	0	0	T	4543619	C	T	4543619	2	4	156	1	0	0	0	0	0	0	0	1	14094	697	25	2		2	SEMA6B	19	4543619	Silent	SNP	C	TCGA-H9-7775-01A-11D-2114-08	312429	4543619	54585364	37	7403											
APLP1	333	broad.mit.edu	37	chr19	36362608	36362608	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtggagtatgtgtgctgtcCccctccagggacccccgacc	5	9	12	15	1	0	0	0	0	0	0	2	3	2	2	6	2	1	2	6	2	1	1			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr19:36362608C>T	ENST00000221891.4	+	5	824	c.632C>T	c.(631-633)cCc>cTc	p.P211L	APLP1_ENST00000586861.1_Missense_Mutation_p.P205L|APLP1_ENST00000537454.2_Missense_Mutation_p.P172L	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	211	Zinc-binding.				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GTGTGCTGTCCCCCTCCAGGG	0.637													14	62					0	0	1	0	0	T	36362608	C	T	36362608	3	4	156	1	0	0	0	0	1	0	0	0	775	623	22	2	650	2	APLP1	19	36362608	Missense_Mutation	SNP	C	TCGA-H9-7775-01A-11D-2114-08	31818989	36362608	22766375	38	7404											
CPXM1	56265	broad.mit.edu	37	chr20	2776682	2776682	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcaggtgatggttggggacGatgtggggcaccttcccatc	6	9	17	9	1	0	1	0	1	0	0	2	3	1	2	2	7	0	3	2	7	0	2			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr20:2776682G>A	ENST00000380605.2	-	10	1432	c.1368C>T	c.(1366-1368)atC>atT	p.I456I		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	456					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GGTTGGGGACGATGTGGGGCA	0.572													69	86					0	0	1	0	0	A	2776682	G	A	2776682	2	1	156	1	0	0	0	0	0	0	0	1	3860	1048	37	1		1	CPXM1	20	2776682	Silent	SNP	G	TCGA-H9-7775-01A-11D-2114-08		2776682	60248838	39	7405											
DSCAM	1826	broad.mit.edu	37	chr21	41719856	41719856	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttaaccttcctgggactgatGgtggctttcagtggctctgg	5	14	13	9	0	2	1	1	1	1	0	3	2	3	2	2	5	1	2	2	5	1	3			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr21:41719856G>T	ENST00000400454.1	-	6	1428	c.951C>A	c.(949-951)acC>acA	p.T317T		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	317	Ig-like C2-type 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGGGACTGATGGTGGCTTTCA	0.473													3	9					0.184627	0.188247	1	1	0	T	41719856	G	T	41719856	2	4	156	1	0	0	0	0	0	0	0	1	4794	1335	47	4		4	DSCAM	21	41719856	Silent	SNP	G	TCGA-H9-7775-01A-11D-2114-08		41719856	6410039	40	7406											
SGSM3	27352	broad.mit.edu	37	chr22	40802485	40802485	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaactcggcctccatcttcaAcacgctatcggatatcccgt	9	10	7	15	4	2	0	1	0	1	0	6	2	4	1	3	2	2	1	3	2	4	3			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chr22:40802485A>G	ENST00000248929.9	+	10	1193	c.1004A>G	c.(1003-1005)aAc>aGc	p.N335S	SGSM3_ENST00000454798.2_Missense_Mutation_p.N268S	NM_015705.4	NP_056520.2	Q96HU1	SGSM3_HUMAN	small G protein signaling modulator 3	335					cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						TCCATCTTCAACACGCTATCG	0.627													5	36					0	0	1	0	0	G	40802485	A	G	40802485	3	3	156	1	0	0	0	0	1	0	0	0	14278	43	2	3	1038	3	SGSM3	22	40802485	Missense_Mutation	SNP	A	TCGA-H9-7775-01A-11D-2114-08		40802485	10502081	41	7407											
ATP6AP2	10159	broad.mit.edu	37	chrX	40457949	40457949	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaggttgacctgctctttcTttctgaactgcaagtgctac	8	14	9	10	0	3	2	0	2	3	0	3	3	3	2	1	1	5	4	1	1	4	4			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chrX:40457949T>C	ENST00000378438.4	+	6	709	c.551T>C	c.(550-552)cTt>cCt	p.L184P	ATP6AP2_ENST00000535539.1_Missense_Mutation_p.L152P|ATP6AP2_ENST00000486558.1_3'UTR|ATP6AP2_ENST00000544975.1_Missense_Mutation_p.L108P|ATP6AP2_ENST00000535777.1_Missense_Mutation_p.L106P	NM_005765.2	NP_005756.2	O75787	RENR_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 2	184					angiotensin maturation|positive regulation of transforming growth factor-beta1 production|regulation of MAPKKK cascade	external side of plasma membrane|integral to membrane	protein binding|receptor activity			endometrium(1)|large_intestine(1)|lung(2)	4						CTGCTCTTTCTTTCTGAACTG	0.363													33	24					0	0	1	0	0	C	40457949	T	C	40457949	3	2	156	1	0	0	0	0	1	0	0	0	1165	1609	56	3	573	3	ATP6AP2	23	40457949	Missense_Mutation	SNP	T	TCGA-H9-7775-01A-11D-2114-08		40457949	114812611	42	7408											
HMGB3	3149	broad.mit.edu	37	chrX	150156360	150156360	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagaggaggaggaagaagaGgaggaggaggaggaggagga	17	0	24	0	0	0	3	0	0	0	3	0	14	0	13	0	10	0	0	0	10	3	0			TCGA-H9-7775-01A-11D-2114-08	TCGA-H9-7775-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cff41f62-8849-4654-807b-f02b1b04ba18	4992a5df-2ae7-4480-99ab-b908b3cdf96e	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443													3	13					0	0	1	0	0	A	150156360	G	A	150156360	2	1	156	1	0	0	0	0	0	0	0	1	7268	991	35	2		2	HMGB3	23	150156360	Silent	SNP	G	TCGA-H9-7775-01A-11D-2114-08	109698411	150156360	5114200	43	7409											
KIF1B	23095	broad.mit.edu	37	chr1	10380118	10380118	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggactatgagagtaaattGcaggccttgcagaagcaggt	13	8	13	7	0	0	2	0	1	0	2	0	4	0	3	1	3	3	4	1	3	4	4			TCGA-H9-A6BX-01A-31D-A30X-08	TCGA-H9-A6BX-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30eed465-db39-4e44-8663-e25e7d2dfe01	59d383d8-c1ee-4cf7-b802-0a75b257e576	g.chr1:10380118G>A	ENST00000377086.1	+	23	2335	c.2133G>A	c.(2131-2133)ttG>ttA	p.L711L	KIF1B_ENST00000263934.6_Silent_p.L665L|KIF1B_ENST00000377081.1_Silent_p.L711L			O60333	KIF1B_HUMAN	kinesin family member 1B	711					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		AGAGTAAATTGCAGGCCTTGC	0.443													8	21					0	0	1	0	0	A	10380118	G	A	10380118	2	1	157	1	0	0	0	0	0	0	0	1	8326	1310	46	2		2	KIF1B	1	10380118	Silent	SNP	G	TCGA-H9-A6BX-01A-31D-A30X-08		10380118	238870503	1	7410											
MYBPH	4608	broad.mit.edu	37	chr1	203140290	203140290	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagcattgcagccccagaCgtccaggagcctgatgctgc	9	6	12	14	1	0	2	0	1	0	1	1	3	1	3	4	1	7	4	4	1	0	1			TCGA-H9-A6BX-01A-31D-A30X-08	TCGA-H9-A6BX-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30eed465-db39-4e44-8663-e25e7d2dfe01	59d383d8-c1ee-4cf7-b802-0a75b257e576	g.chr1:203140290C>T	ENST00000255416.4	-	6	889	c.832G>A	c.(832-834)Gtc>Atc	p.V278I		NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	myosin binding protein H	278	Fibronectin type-III 2.				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle			endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		CAGCCCCAGACGTCCAGGAGC	0.612													4	75					0	0	1	0	0	T	203140290	C	T	203140290	3	4	157	1	0	0	0	0	1	0	0	0	10062	536	19	1	621	1	MYBPH	1	203140290	Missense_Mutation	SNP	C	TCGA-H9-A6BX-01A-31D-A30X-08	192760172	203140290	46110331	2	7411											
SETD2	29072	broad.mit.edu	37	chr3	47103828	47103828	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccaacagcatcccttcctcGttcagttgctaagggaaaag	11	9	9	12	1	1	0	1	0	0	0	4	1	3	1	3	1	3	4	3	1	4	4			TCGA-H9-A6BX-01A-31D-A30X-08	TCGA-H9-A6BX-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30eed465-db39-4e44-8663-e25e7d2dfe01	59d383d8-c1ee-4cf7-b802-0a75b257e576	g.chr3:47103828G>A	ENST00000409792.3	-	14	6160	c.6118C>T	c.(6118-6120)Cga>Tga	p.R2040*	SETD2_ENST00000492397.1_5'UTR	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2040					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TCCCTTCCTCGTTCAGTTGCT	0.388			"N, F, S, Mis"		clear cell renal carcinoma								10	215					0	0	1	0	0	A	47103828	G	A	47103828	4	1	157	1	0	0	0	0	0	1	0	0	14185	1153	40	1	1608	1	SETD2	3	47103828	Nonsense_Mutation	SNP	G	TCGA-H9-A6BX-01A-31D-A30X-08		47103828	150918602	3	7412											
STAB1	23166	broad.mit.edu	37	chr3	52529474	52529474	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccactctgcctcctggccttCtgcctggcaggcttcagctt	3	12	9	17	0	3	0	1	0	2	0	4	0	4	0	5	3	3	3	5	3	0	3			TCGA-H9-A6BX-01A-31D-A30X-08	TCGA-H9-A6BX-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30eed465-db39-4e44-8663-e25e7d2dfe01	59d383d8-c1ee-4cf7-b802-0a75b257e576	g.chr3:52529474C>T	ENST00000321725.6	+	1	121	c.45C>T	c.(43-45)ttC>ttT	p.F15F		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	15					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TCCTGGCCTTCTGCCTGGCAG	0.692													3	24					0	0	1	0	0	T	52529474	C	T	52529474	2	4	157	1	0	0	0	0	0	0	0	1	15293	912	32	2		2	STAB1	3	52529474	Silent	SNP	C	TCGA-H9-A6BX-01A-31D-A30X-08	5425646	52529474	145492956	4	7413											
DNAJB8	165721	broad.mit.edu	37	chr3	128181414	128181414	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgctgtccatccatttgagCtgctccttgccgttcacagt	5	15	8	13	1	1	1	1	1	0	0	4	1	4	1	4	0	4	4	4	0	0	4			TCGA-H9-A6BX-01A-31D-A30X-08	TCGA-H9-A6BX-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30eed465-db39-4e44-8663-e25e7d2dfe01	59d383d8-c1ee-4cf7-b802-0a75b257e576	g.chr3:128181414C>A	ENST00000469083.1	-	2	3232	c.675G>T	c.(673-675)caG>caT	p.Q225H	DNAJB8_ENST00000319153.3_Missense_Mutation_p.Q225H			Q8NHS0	DNJB8_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 8	225					protein folding		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		TCCATTTGAGCTGCTCCTTGC	0.632													6	141					8.12818e-05	8.9023e-05	1	1	0	A	128181414	C	A	128181414	3	1	157	1	0	0	0	0	1	0	0	0	4653	796	28	4	27	4	DNAJB8	3	128181414	Missense_Mutation	SNP	C	TCGA-H9-A6BX-01A-31D-A30X-08	75651940	128181414	69841016	5	7414											
URGCP	55665	broad.mit.edu	37	chr7	43917695	43917695	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgacctttaggcccagtttgCgggctgcgtgcgccatgtcc	4	10	13	14	4	0	0	0	0	0	0	1	1	1	0	4	2	3	2	4	2	1	3			TCGA-H9-A6BX-01A-31D-A30X-08	TCGA-H9-A6BX-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30eed465-db39-4e44-8663-e25e7d2dfe01	59d383d8-c1ee-4cf7-b802-0a75b257e576	g.chr7:43917695C>T	ENST00000336086.6	-	4	3474	c.1238G>A	c.(1237-1239)cGc>cAc	p.R413H	URGCP_ENST00000223341.7_Missense_Mutation_p.R413H|URGCP_ENST00000443736.1_Missense_Mutation_p.R413H|URGCP_ENST00000402306.3_Missense_Mutation_p.R447H|URGCP_ENST00000453200.1_Missense_Mutation_p.R456H|URGCP_ENST00000447717.3_Missense_Mutation_p.R413H|URGCP_ENST00000497914.1_5'UTR|RP5-1165K10.1_ENST00000603700.1_Intron			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	456					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCCCAGTTTGCGGGCTGCGTG	0.582													4	172					0	0	1	0	0	T	43917695	C	T	43917695	3	4	157	1	0	0	0	0	1	0	0	0	17086	768	27	1	1432	1	URGCP	7	43917695	Missense_Mutation	SNP	C	TCGA-H9-A6BX-01A-31D-A30X-08		43917695	115220968	6	7415											
CCBL1	883	broad.mit.edu	37	chr9	131599993	131599993	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggttgttgggggtgttgaGgaccagggctttggtgcgtg	3	12	22	4	1	0	1	0	1	0	0	0	2	0	2	1	7	1	4	1	7	0	4			TCGA-H9-A6BX-01A-31D-A30X-08	TCGA-H9-A6BX-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30eed465-db39-4e44-8663-e25e7d2dfe01	59d383d8-c1ee-4cf7-b802-0a75b257e576	g.chr9:131599993G>C	ENST00000436267.2	-	8	969	c.820C>G	c.(820-822)Ctc>Gtc	p.L274V	CCBL1_ENST00000320665.6_Missense_Mutation_p.L130V|CCBL1_ENST00000483599.1_5'UTR|CCBL1_ENST00000302586.3_Missense_Mutation_p.L180V			Q16773	KAT1_HUMAN	cysteine conjugate-beta lyase, cytoplasmic	180					kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process	cytosol|nucleus	1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)	GGGGTGTTGAGGACCAGGGCT	0.607													4	68					0	0	1	0	0	C	131599993	G	C	131599993	3	2	157	1	0	0	0	0	1	0	0	0	2750	1000	35	4	762	4	CCBL1	9	131599993	Missense_Mutation	SNP	G	TCGA-H9-A6BX-01A-31D-A30X-08		131599993	9613438	7	7416											
PRPF18	8559	broad.mit.edu	37	chr10	13642288	13642288	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaccattaacttcatcgaaTccagtgttagaacttgaact	15	12	5	9	1	1	2	1	1	0	1	3	3	2	2	2	0	4	1	2	0	6	4			TCGA-H9-A6BX-01A-31D-A30X-08	TCGA-H9-A6BX-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30eed465-db39-4e44-8663-e25e7d2dfe01	59d383d8-c1ee-4cf7-b802-0a75b257e576	g.chr10:13642288T>C	ENST00000378572.3	+	3	349	c.189T>C	c.(187-189)aaT>aaC	p.N63N		NM_003675.3	NP_003666.1	Q99633	PRP18_HUMAN	pre-mRNA processing factor 18	63					mRNA processing|RNA splicing	nuclear speck|spliceosomal complex				central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1)	17						CTTCATCGAATCCAGTGTTAG	0.338													4	51					0	0	1	0	0	C	13642288	T	C	13642288	2	2	157	1	0	0	0	0	0	0	0	1	12615	1432	50	3		3	PRPF18	10	13642288	Silent	SNP	T	TCGA-H9-A6BX-01A-31D-A30X-08		13642288	121892459	8	7417											
CTBP2	1488	broad.mit.edu	37	chr10	126682486	126682486	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcctgccctccttgagggcTtgtgctaaggctttctcgtc	4	14	10	13	1	1	1	0	1	1	0	5	1	3	1	3	2	2	3	3	2	1	4	rs76949963	by1000genomes	TCGA-H9-A6BX-01A-31D-A30X-08	TCGA-H9-A6BX-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30eed465-db39-4e44-8663-e25e7d2dfe01	59d383d8-c1ee-4cf7-b802-0a75b257e576	g.chr10:126682486T>C	ENST00000309035.6	-	6	2599	c.2469A>G	c.(2467-2469)caA>caG	p.Q823Q	CTBP2_ENST00000337195.5_Silent_p.Q283Q|CTBP2_ENST00000494626.2_Silent_p.Q283Q|CTBP2_ENST00000334808.6_Silent_p.Q351Q|CTBP2_ENST00000411419.2_Silent_p.Q283Q|CTBP2_ENST00000531469.1_Silent_p.Q283Q	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	283					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CCTTGAGGGCTTGTGCTAAGG	0.617													5	194					0	0	1	0	0	C	126682486	T	C	126682486	2	2	157	1	0	0	0	0	0	0	0	1	4022	1606	56	3		3	CTBP2	10	126682486	Silent	SNP	T	TCGA-H9-A6BX-01A-31D-A30X-08	113040198	126682486	8852261	9	7418			1	18		2	2	31	N	T_G	1.259814e-05
CTBP2	1488	broad.mit.edu	37	chr10	126682516	126682516	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttctcgtccaccaggccGccacgggctgcgttcacaag	6	8	11	16	4	2	0	1	0	1	0	4	0	3	0	4	2	1	3	4	2	1	2			TCGA-H9-A6BX-01A-31D-A30X-08	TCGA-H9-A6BX-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30eed465-db39-4e44-8663-e25e7d2dfe01	59d383d8-c1ee-4cf7-b802-0a75b257e576	g.chr10:126682516G>A	ENST00000309035.6	-	6	2569	c.2439C>T	c.(2437-2439)ggC>ggT	p.G813G	CTBP2_ENST00000337195.5_Silent_p.G273G|CTBP2_ENST00000494626.2_Silent_p.G273G|CTBP2_ENST00000334808.6_Silent_p.G341G|CTBP2_ENST00000411419.2_Silent_p.G273G|CTBP2_ENST00000531469.1_Silent_p.G273G	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	273					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CCACCAGGCCGCCACGGGCTG	0.582													5	167					0	0	1	0	0	A	126682516	G	A	126682516	2	1	157	1	0	0	0	0	0	0	0	1	4022	1074	38	1		1	CTBP2	10	126682516	Silent	SNP	G	TCGA-H9-A6BX-01A-31D-A30X-08	30	126682516	8852231	10	7419			1	18		2	2	31	N	T_G	1.259814e-05
AP2A2	161	broad.mit.edu	37	chr11	1003772	1003772	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaaaaccagctgcttcaaaTtggacttaagtctgaatttc	13	13	7	8	0	2	2	1	2	1	0	3	3	2	3	1	1	3	2	1	1	5	4			TCGA-H9-A6BX-01A-31D-A30X-08	TCGA-H9-A6BX-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30eed465-db39-4e44-8663-e25e7d2dfe01	59d383d8-c1ee-4cf7-b802-0a75b257e576	g.chr11:1003772T>A	ENST00000448903.2	+	16	2315	c.2174T>A	c.(2173-2175)aTt>aAt	p.I725N	AP2A2_ENST00000332231.5_Missense_Mutation_p.I726N|AP2A2_ENST00000534328.1_Intron|AP2A2_ENST00000525891.1_3'UTR	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	725					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		CTGCTTCAAATTGGACTTAAG	0.343													3	20					0	0	1	0	0	A	1003772	T	A	1003772	3	1	157	1	0	0	0	0	1	0	0	0	736	1493	52	5	2236	5	AP2A2	11	1003772	Missense_Mutation	SNP	T	TCGA-H9-A6BX-01A-31D-A30X-08		1003772	134002744	11	7420											
C17orf62	79415	broad.mit.edu	37	chr17	80401693	80401693	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacaccgggaatgtgccaCgggtcctgtgggcggtgcac	6	6	17	12	3	0	0	0	0	0	0	1	1	1	1	3	5	2	2	3	5	1	0	rs145920831	by1000genomes	TCGA-H9-A6BX-01A-31D-A30X-08	TCGA-H9-A6BX-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30eed465-db39-4e44-8663-e25e7d2dfe01	59d383d8-c1ee-4cf7-b802-0a75b257e576	g.chr17:80401693C>T	ENST00000583617.1	-	7	504	c.449G>A	c.(448-450)cGt>cAt	p.R150H	C17orf62_ENST00000437807.2_3'UTR|C17orf62_ENST00000336995.7_Silent_p.P102P|C17orf62_ENST00000577436.1_3'UTR|C17orf62_ENST00000434650.2_3'UTR|C17orf62_ENST00000342572.8_3'UTR|C17orf62_ENST00000306645.5_3'UTR			Q9BQA9	CQ062_HUMAN	chromosome 17 open reading frame 62	0						integral to membrane	protein binding	p.P140P(1)		breast(2)|large_intestine(2)|skin(2)|urinary_tract(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GAATGTGCCACGGGTCCTGTG	0.682													6	96					0	0	1	0	0	T	80401693	C	T	80401693	3	4	157	1	0	0	0	0	1	0	0	0	1879	551	19	1		1	C17orf62	17	80401693	Missense_Mutation	SNP	C	TCGA-H9-A6BX-01A-31D-A30X-08		80401693	793517	12	7421											
RYR1	6261	broad.mit.edu	37	chr19	38949966	38949966	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttccctgttgtcagcttctCggctggtgtcaagtgagaac	6	13	11	11	1	3	1	2	1	1	1	5	2	4	1	1	2	2	3	1	2	2	3			TCGA-H9-A6BX-01A-31D-A30X-08	TCGA-H9-A6BX-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30eed465-db39-4e44-8663-e25e7d2dfe01	59d383d8-c1ee-4cf7-b802-0a75b257e576	g.chr19:38949966C>T	ENST00000355481.4	+	19	2479	c.2348C>T	c.(2347-2349)tCg>tTg	p.S783L	RYR1_ENST00000359596.3_Missense_Mutation_p.S783L|RYR1_ENST00000360985.3_Missense_Mutation_p.S783L	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	783	B30.2/SPRY 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GTCAGCTTCTCGGCTGGTGTC	0.607													3	33					0	0	1	0	0	T	38949966	C	T	38949966	3	4	157	1	0	0	0	0	1	0	0	0	13820	893	31	1	2422	1	RYR1	19	38949966	Missense_Mutation	SNP	C	TCGA-H9-A6BX-01A-31D-A30X-08		38949966	20179017	13	7422											
GLI2	2736	broad.mit.edu	37	chr2	121746844	121746844	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgcggactccaacgtgggCccctccgcccctatgctggg	4	7	13	17	3	0	0	0	0	0	0	2	1	2	1	6	3	3	2	6	3	2	1			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr2:121746844C>T	ENST00000452319.1	+	14	3414	c.3354C>T	c.(3352-3354)ggC>ggT	p.G1118G	GLI2_ENST00000361492.4_Silent_p.G1118G|GLI2_ENST00000314490.11_Silent_p.G790G			P10070	GLI2_HUMAN	GLI family zinc finger 2	1118					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CCAACGTGGGCCCCTCCGCCC	0.622													33	62					0	0	1	0	0	T	121746844	C	T	121746844	2	4	158	1	0	0	0	0	0	0	0	1	6480	726	26	2		2	GLI2	2	121746844	Silent	SNP	C	TCGA-H9-A6BY-01A-11D-A30E-08		121746844	121452529	1	7423											
CERKL	0	broad.mit.edu	37	chr2	182468750	182468751	+	Frame_Shift_Del	DEL	AT	AT	-																															ccgtttcagtttcacagagaAtatgtctttgagttcaataa																										TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr2:182468750_182468751delAT	ENST00000410087.3	-	2	394_395	c.294_295delAT	c.(292-297)attcfs	p.IF98fs	CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000374969.2_Frame_Shift_Del_p.IF98fs|CERKL_ENST00000339098.5_Frame_Shift_Del_p.IF98fs|CERKL_ENST00000374970.2_Frame_Shift_Del_p.IF98fs|CERKL_ENST00000409440.3_Frame_Shift_Del_p.IF98fs	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	ceramide kinase-like	98					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TTCACAGAGAATATGTCTTTGA	0.307													19	34	---	---	---	---						-	182468751	AT	-	182468750	7	5	158	1	0	1	0	1	0	0	0	0	3290	101	4	0	1433	0	CERKL	2	182468750	Frame_Shift_Del	DEL	AT	TCGA-H9-A6BY-01A-11D-A30E-08	60721906	182468750	60730623	2	7424											
ABCA12	26154	broad.mit.edu	37	chr2	215843155	215843156	+	Frame_Shift_Ins	INS	-	-	T																															gctcaagactcatagcactaINStttttttgtgactctttggt																										TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr2:215843155_215843156insT	ENST00000272895.7	-	33	5231_5232	c.5012_5013insA	c.(5011-5013)aagfs	p.K1671fs	ABCA12_ENST00000389661.4_Frame_Shift_Ins_p.K1353fs	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1671					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TCATAGCACTATTTTTTTGTGA	0.376													7	23	---	---	---	---						T	215843156	-	T	215843155	7	5	158	1	0	1	1	0	0	0	0	0	30	446	16	0	2858	0	ABCA12	2	215843155	Frame_Shift_Ins	INS	-	TCGA-H9-A6BY-01A-11D-A30E-08	33374405	215843155	27356218	3	7425											
KIF1A	547	broad.mit.edu	37	chr2	241725859	241725859	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagtgggtgctccctcacGcgaaggttgcccttgttctt	5	12	12	12	2	2	0	1	0	1	0	3	1	3	0	2	2	3	4	2	2	1	4			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr2:241725859G>A	ENST00000498729.2	-	6	747	c.501C>T	c.(499-501)cgC>cgT	p.R167R	KIF1A_ENST00000320389.7_Silent_p.R167R	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	167	Kinesin-motor.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GCTCCCTCACGCGAAGGTTGC	0.602													62	94					0	0	1	0	0	A	241725859	G	A	241725859	2	1	158	1	0	0	0	0	0	0	0	1	8325	1074	38	1		1	KIF1A	2	241725859	Silent	SNP	G	TCGA-H9-A6BY-01A-11D-A30E-08	25882704	241725859	1473514	4	7426											
DNAH1	25981	broad.mit.edu	37	chr3	52383437	52383437	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcataaggaggtggatagcGtaagtgcccacctgccccgc	9	7	13	12	2	0	0	0	0	0	0	0	2	0	2	4	3	4	2	4	3	3	3			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr3:52383437G>A	ENST00000420323.2	+	14	2787		c.e14+1			NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1						ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGTGGATAGCGTAAGTGCCCA	0.582													3	35					0	0	1	0	0	A	52383437	G	A	52383437	5	1	158	1	0	0	0	0	0	0	1	0	4625	1159	40	1	2577	1	DNAH1	3	52383437	Splice_Site	SNP	G	TCGA-H9-A6BY-01A-11D-A30E-08		52383437	145638993	5	7427											
ABCG2	9429	broad.mit.edu	37	chr4	89013441	89013441	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggcaattgtgaggaaaataAcaatcatacaagccaaggcc	18	6	9	8	0	1	1	1	1	0	0	1	2	1	2	2	3	3	1	2	3	8	3			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr4:89013441A>G	ENST00000237612.3	-	16	2458	c.1913T>C	c.(1912-1914)gTt>gCt	p.V638A	ABCG2_ENST00000515655.1_3'UTR	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2	638	ABC transmembrane type-2.				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	GAGGAAAATAACAATCATACA	0.363													22	45					0	0	1	0	0	G	89013441	A	G	89013441	3	3	158	1	0	0	0	0	1	0	0	0	69	43	2	3	58	3	ABCG2	4	89013441	Missense_Mutation	SNP	A	TCGA-H9-A6BY-01A-11D-A30E-08		89013441	102140835	6	7428											
FAT4	79633	broad.mit.edu	37	chr4	126328050	126328050	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttagggtgcaaatgctctcGtcacatacactatcattagt	11	14	7	9	1	3	0	2	0	1	0	4	0	3	0	0	1	3	2	0	1	5	5			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr4:126328050G>A	ENST00000394329.3	+	3	5336	c.5323G>A	c.(5323-5325)Gtc>Atc	p.V1775I	FAT4_ENST00000335110.5_Missense_Mutation_p.V73I	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1775	Cadherin 17.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AAATGCTCTCGTCACATACAC	0.433													17	127					0	0	1	0	0	A	126328050	G	A	126328050	3	1	158	1	0	0	0	0	1	0	0	0	5725	1145	40	1	5333	1	FAT4	4	126328050	Missense_Mutation	SNP	G	TCGA-H9-A6BY-01A-11D-A30E-08	37314609	126328050	64826226	7	7429											
CDC20B	166979	broad.mit.edu	37	chr5	54410070	54410070	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcaattccatacagaggcCgtcccatcagctgcagcaga	12	7	9	13	1	1	2	1	0	0	2	3	2	3	2	3	1	5	4	3	1	3	3			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr5:54410070C>T	ENST00000296733.1	-	12	1698	c.1524G>A	c.(1522-1524)acG>acA	p.T508T	CDC20B_ENST00000334206.5_3'UTR|CDC20B_ENST00000381375.2_Silent_p.T512T|CDC20B_ENST00000322374.6_Silent_p.T470T	NM_001170402.1|NM_152623.2	NP_001163873.1|NP_689836.2	Q86Y33	CD20B_HUMAN	cell division cycle 20B	512										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			atacagaggccgtcccatcag	0.527													26	57					0	0	1	0	0	T	54410070	C	T	54410070	2	4	158	1	0	0	0	0	0	0	0	1	3082	639	23	1		1	CDC20B	5	54410070	Silent	SNP	C	TCGA-H9-A6BY-01A-11D-A30E-08		54410070	126505190	8	7430											
CYFIP2	26999	broad.mit.edu	37	chr5	156786061	156786061	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagctcctacaggaatttcGtggggccacctcatttcaag	10	10	9	12	1	2	0	2	0	0	0	4	1	3	1	3	3	2	1	3	3	3	3			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr5:156786061G>A	ENST00000347377.6	+	24	3153	c.2722G>A	c.(2722-2724)Gtg>Atg	p.V908M	CYFIP2_ENST00000318218.6_Missense_Mutation_p.V933M|CYFIP2_ENST00000442283.2_Missense_Mutation_p.R192H|CYFIP2_ENST00000522463.1_Missense_Mutation_p.V712M|CYFIP2_ENST00000435847.2_Missense_Mutation_p.V607M|CYFIP2_ENST00000377576.3_Missense_Mutation_p.V908M|CYFIP2_ENST00000521420.1_Missense_Mutation_p.V882M|CYFIP2_ENST00000541131.1_Missense_Mutation_p.V833M	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	933					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAGGAATTTCGTGGGGCCACC	0.488													6	280					0	0	1	0	0	A	156786061	G	A	156786061	3	1	158	1	0	0	0	0	1	0	0	0	4161	1145	40	1	2812	1	CYFIP2	5	156786061	Missense_Mutation	SNP	G	TCGA-H9-A6BY-01A-11D-A30E-08	102375991	156786061	24129199	9	7431											
SAMD3	154075	broad.mit.edu	37	chr6	130535491	130535491	+	Frame_Shift_Del	DEL	G	G	-																															aacatactcactctcgagctGcttctgtttgcatgaccagg																										TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr6:130535491delG	ENST00000532763.1	-	3	389	c.260delC	c.(259-261)gafs	p.A88fs	SAMD3_ENST00000368134.2_Frame_Shift_Del_p.A88fs|SAMD3_ENST00000324172.6_Frame_Shift_Del_p.A88fs|SAMD3_ENST00000457563.2_Frame_Shift_Del_p.A112fs|SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000439090.2_Frame_Shift_Del_p.A88fs|SAMD3_ENST00000437477.2_Frame_Shift_Del_p.A88fs			Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	88										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		CTCTCGAGCTGCTTCTGTTTG	0.428													12	197	---	---	---	---						-	130535491	G	-	130535491	7	5	158	1	0	1	0	1	0	0	0	0	13872	1319	46	0	1354	0	SAMD3	6	130535491	Frame_Shift_Del	DEL	G	TCGA-H9-A6BY-01A-11D-A30E-08		130535491	40579576	10	7432											
RP1L1	94137	broad.mit.edu	37	chr8	10464989	10464989	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctctacaccttctaactctgGttgggcctccccttctgcct	4	14	6	17	0	4	0	0	0	4	0	5	0	5	0	5	2	3	1	5	2	2	5			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr8:10464989G>T	ENST00000382483.3	-	4	6842	c.6619C>A	c.(6619-6621)Cca>Aca	p.P2207T		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	2207					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TCTAACTCTGGTTGGGCCTCC	0.632													26	429					0.000117367	0.000122062	1	1	0	T	10464989	G	T	10464989	3	4	158	1	0	0	0	0	1	0	0	0	13585	1261	44	4	587	4	RP1L1	8	10464989	Missense_Mutation	SNP	G	TCGA-H9-A6BY-01A-11D-A30E-08		10464989	135899033	11	7433											
CRISPLD1	83690	broad.mit.edu	37	chr8	75929559	75929559	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cctccttttttccaagcaatCcagcatctgtagagctgcaa	10	12	6	13	0	1	1	0	0	1	1	4	1	4	1	4	0	4	5	4	0	4	4			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr8:75929559C>T	ENST00000262207.4	+	10	1469	c.1001C>T	c.(1000-1002)tCc>tTc	p.S334F	CRISPLD1_ENST00000523524.1_Missense_Mutation_p.S146F|CRISPLD1_ENST00000517786.1_Missense_Mutation_p.S148F	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	334	LCCL 1.					extracellular region				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			TCCAAGCAATCCAGCATCTGT	0.338													5	84					0	0	1	0	0	T	75929559	C	T	75929559	3	4	158	1	0	0	0	0	1	0	0	0	3905	855	30	2	1035	2	CRISPLD1	8	75929559	Missense_Mutation	SNP	C	TCGA-H9-A6BY-01A-11D-A30E-08	65464570	75929559	70434463	12	7434											
DPY19L4	286148	broad.mit.edu	37	chr8	95795914	95795914	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagaaggcaagctccagttGcagctgtgtttgcagggagt	9	9	15	8	0	0	1	0	0	0	1	1	2	1	2	1	2	4	8	1	2	2	2			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr8:95795914G>T	ENST00000414645.2	+	17	1831	c.1732G>T	c.(1732-1734)Gca>Tca	p.A578S		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	578						integral to membrane		p.A578T(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					AGCTCCAGTTGCAGCTGTGTT	0.403													15	24					5.01169e-05	5.31853e-05	1	1	0	T	95795914	G	T	95795914	3	4	158	1	0	0	0	0	1	0	0	0	4769	1319	46	4	1798	4	DPY19L4	8	95795914	Missense_Mutation	SNP	G	TCGA-H9-A6BY-01A-11D-A30E-08	19866355	95795914	50568108	13	7435											
AKNA	80709	broad.mit.edu	37	chr9	117104291	117104291	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacagtatttgtccctaccaGaggtggctgagcctggacca	10	9	11	11	0	0	2	0	1	0	1	1	3	1	3	4	3	3	2	4	3	3	3			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr9:117104291G>A	ENST00000307564.4	-	20	4033	c.3872C>T	c.(3871-3873)tCt>tTt	p.S1291F	AKNA_ENST00000223791.3_Missense_Mutation_p.S751F|AKNA_ENST00000374075.5_Missense_Mutation_p.S1210F|AKNA_ENST00000374079.4_Missense_Mutation_p.S236F|AKNA_ENST00000374088.3_Missense_Mutation_p.S1291F|AKNA_ENST00000492875.1_5'UTR	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	1291					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GTCCCTACCAGAGGTGGCTGA	0.567													33	71					0	0	1	0	0	A	117104291	G	A	117104291	3	1	158	1	0	0	0	0	1	0	0	0	460	942	33	2	459	2	AKNA	9	117104291	Missense_Mutation	SNP	G	TCGA-H9-A6BY-01A-11D-A30E-08		117104291	24109140	14	7436											
ZFYVE27	118813	broad.mit.edu	37	chr10	99502873	99502873	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcagatgcctttgtgttccTtgctgacctgcctgggcctc	3	13	12	13	0	0	2	0	1	0	1	2	2	1	2	5	2	3	3	5	2	0	3			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr10:99502873T>G	ENST00000393677.4	+	3	424	c.220T>G	c.(220-222)Ttg>Gtg	p.L74V	ZFYVE27_ENST00000356257.4_Missense_Mutation_p.L74V|ZFYVE27_ENST00000453958.2_Missense_Mutation_p.L74V|ZFYVE27_ENST00000357540.4_Intron|ZFYVE27_ENST00000359980.3_Missense_Mutation_p.L74V|ZFYVE27_ENST00000337540.7_Intron|ZFYVE27_ENST00000370613.3_Intron|ZFYVE27_ENST00000370610.3_Intron	NM_144588.6	NP_653189.3	Q5T4F4	ZFY27_HUMAN	zinc finger, FYVE domain containing 27	74					cell death|nerve growth factor receptor signaling pathway|neuron projection development|protein localization in plasma membrane	axon|dendrite|endoplasmic reticulum membrane|growth cone membrane|integral to membrane|recycling endosome membrane	metal ion binding|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8		Colorectal(252;0.0846)		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)		TTTGTGTTCCTTGCTGACCTG	0.547													41	87					0	0	1	0	0	G	99502873	T	G	99502873	3	3	158	1	0	0	0	0	1	0	0	0	17727	1606	56	5	226	5	ZFYVE27	10	99502873	Missense_Mutation	SNP	T	TCGA-H9-A6BY-01A-11D-A30E-08		99502873	36031874	15	7437											
CHRNA10	57053	broad.mit.edu	37	chr11	3691150	3691150	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaacagcttgagagccagcCggccctcagctcccaggcac	9	4	12	16	1	1	1	1	1	0	1	2	3	2	2	4	3	5	3	4	3	1	1			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr11:3691150C>T	ENST00000250699.2	-	2	154	c.83G>A	c.(82-84)cGg>cAg	p.R28Q	CHRNA10_ENST00000534359.1_Intron	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10 (neuronal)	28					elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	GAGAGCCAGCCGGCCCTCAGC	0.612													31	62					0	0	1	0	0	T	3691150	C	T	3691150	3	4	158	1	0	0	0	0	1	0	0	0	3404	652	23	1	1285	1	CHRNA10	11	3691150	Missense_Mutation	SNP	C	TCGA-H9-A6BY-01A-11D-A30E-08		3691150	131315366	16	7438											
NUP98	4928	broad.mit.edu	37	chr11	3797159	3797159	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcagctgtaaaactacttgGcccaaagagggagccagatg	14	6	12	9	0	0	2	0	0	0	2	0	3	0	3	2	2	5	3	2	2	4	3			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr11:3797159G>T	ENST00000324932.7	-	5	868	c.448C>A	c.(448-450)Cca>Aca	p.P150T	NUP98_ENST00000355260.3_Missense_Mutation_p.P150T|NUP98_ENST00000397007.4_Missense_Mutation_p.P150T|NUP98_ENST00000359171.4_Missense_Mutation_p.P150T|NUP98_ENST00000397004.4_Missense_Mutation_p.P150T	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	150	Gly/Thr-rich.				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		AAACTACTTGGCCCAAAGAGG	0.398			T	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"	AML								4	131					1	1	1	1	0	T	3797159	G	T	3797159	3	4	158	1	0	0	0	0	1	0	0	0	10821	1203	42	4	5142	4	NUP98	11	3797159	Missense_Mutation	SNP	G	TCGA-H9-A6BY-01A-11D-A30E-08	106009	3797159	131209357	17	7439											
FJX1	24147	broad.mit.edu	37	chr11	35640220	35640220	+	Frame_Shift_Del	DEL	G	G	-																															cggggcgccgccgccaccgcGgggctctggctgctggcgct																										TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr11:35640220delG	ENST00000317811.4	+	1	486	c.36delG	c.(34-36)gcfs	p.A12fs		NM_014344.3	NP_055159.2	Q86VR8	FJX1_HUMAN	four jointed box 1 (Drosophila)	12						extracellular space				lung(1)|urinary_tract(1)	2	all_cancers(35;0.177)|all_lung(20;0.0238)|Lung NSC(22;0.0494)|all_epithelial(35;0.0739)	all_hematologic(20;0.107)				CCGCCACCGCGGGGCTCTGGC	0.801													2	4	---	---	---	---						-	35640220	G	-	35640220	7	5	158	1	0	1	0	1	0	0	0	0	5934	1103	39	0	38	0	FJX1	11	35640220	Frame_Shift_Del	DEL	G	TCGA-H9-A6BY-01A-11D-A30E-08	31843061	35640220	99366296	18	7440											
NDUFS3	4722	broad.mit.edu	37	chr11	47605984	47605984	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagtctatcgccaaccccCggagagtctcaagcttgaag	10	7	9	15	2	2	2	1	1	2	1	4	3	2	2	4	1	2	1	4	1	4	2	rs9600		TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr11:47605984C>T	ENST00000263774.4	+	7	828	c.746C>T	c.(745-747)cCg>cTg	p.P249L	NDUFS3_ENST00000533507.1_3'UTR	NM_004551.2	NP_004542.1	O75489	NDUS3_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)	249			P -> Q (in dbSNP:rs9600).		induction of apoptosis|mitochondrial electron transport, NADH to ubiquinone|negative regulation of cell growth|reactive oxygen species metabolic process|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)	9					NADH(DB00157)	CGCCAACCCCCGGAGAGTCTC	0.567													61	190					0	0	1	0	0	T	47605984	C	T	47605984	3	4	158	1	0	0	0	0	1	0	0	0	10340	652	23	1	772	1	NDUFS3	11	47605984	Missense_Mutation	SNP	C	TCGA-H9-A6BY-01A-11D-A30E-08	11965764	47605984	87400532	19	7441											
CD27	939	broad.mit.edu	37	chr12	6554692	6554692	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccaccacacccggccccActgtgagagctgtcggcact	8	6	10	17	2	0	2	0	2	0	1	1	3	0	2	5	2	1	2	5	2	0	0			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr12:6554692A>G	ENST00000266557.3	+	2	468	c.239A>G	c.(238-240)cAc>cGc	p.H80R	CD27_ENST00000541233.1_3'UTR|CD27-AS1_ENST00000545339.1_RNA|CD27-AS1_ENST00000399492.2_RNA	NM_001242.4	NP_001233.1	P26842	CD27_HUMAN	CD27 molecule	80					anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|immunoglobulin mediated immune response|induction of apoptosis|positive regulation of B cell differentiation|positive regulation of JNK cascade|release of cytoplasmic sequestered NF-kappaB	extracellular region|integral to plasma membrane	caspase inhibitor activity|protein binding|transmembrane receptor activity			kidney(1)|large_intestine(5)|lung(1)|urinary_tract(3)	10						ACCCGGCCCCACTGTGAGAGC	0.587													21	45					0	0	1	0	0	G	6554692	A	G	6554692	3	3	158	1	0	0	0	0	1	0	0	0	3012	159	6	3	245	3	CD27	12	6554692	Missense_Mutation	SNP	A	TCGA-H9-A6BY-01A-11D-A30E-08		6554692	127297203	20	7442											
AQP2	359	broad.mit.edu	37	chr12	50344881	50344881	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctccgagccgccttctacGtggctgcccagctgctgggg	3	10	13	15	3	2	0	0	0	2	0	3	1	2	0	4	3	5	3	4	3	1	3			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr12:50344881G>A	ENST00000199280.3	+	1	353	c.268G>A	c.(268-270)Gtg>Atg	p.V90M		NM_000486.5	NP_000477.1	P41181	AQP2_HUMAN	aquaporin 2 (collecting duct)	90					cellular response to copper ion|cellular response to mercury ion|excretion	apical plasma membrane|integral to membrane|transport vesicle membrane	glycerol transmembrane transporter activity|water channel activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10						CGCCTTCTACGTGGCTGCCCA	0.662													13	37					0	0	1	0	0	A	50344881	G	A	50344881	3	1	158	1	0	0	0	0	1	0	0	0	823	1145	40	1	270	1	AQP2	12	50344881	Missense_Mutation	SNP	G	TCGA-H9-A6BY-01A-11D-A30E-08	43790189	50344881	83507014	21	7443											
OR9K2	441639	broad.mit.edu	37	chr12	55524135	55524135	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catttactttatctttttgcGcttctcgggctgttgaccac	5	18	7	11	2	2	1	0	1	2	0	3	1	2	1	1	1	2	3	1	1	2	8	rs77545847	byFrequency	TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr12:55524135G>A	ENST00000305377.5	+	1	671	c.583G>A	c.(583-585)Gct>Act	p.A195T		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						ATCTTTTTGCGCTTCTCGGGC	0.418													24	70					0	0	1	0	0	A	55524135	G	A	55524135	3	1	158	1	0	0	0	0	1	0	0	0	11301	1087	38	1	585	1	OR9K2	12	55524135	Missense_Mutation	SNP	G	TCGA-H9-A6BY-01A-11D-A30E-08	5179254	55524135	78327760	22	7444											
C1QTNF9	338872	broad.mit.edu	37	chr13	24895797	24895797	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgtcctgcagctgaagctcgGggatgaggtgtggctgcagg	6	9	18	8	1	0	2	0	2	0	0	2	3	1	3	1	5	4	5	1	5	1	0			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr13:24895797G>A	ENST00000382071.2	+	4	978	c.893G>A	c.(892-894)gGg>gAg	p.G298E	C1QTNF9_ENST00000332018.4_Missense_Mutation_p.G298E			P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	298	C1q.					collagen	hormone activity			endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		CTGAAGCTCGGGGATGAGGTG	0.507													4	121					0	0	1	0	0	A	24895797	G	A	24895797	3	1	158	1	0	0	0	0	1	0	0	0	1983	1232	43	2	903	2	C1QTNF9	13	24895797	Missense_Mutation	SNP	G	TCGA-H9-A6BY-01A-11D-A30E-08		24895797	90274081	23	7445											
SLC10A2	6555	broad.mit.edu	37	chr13	103718522	103718522	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accacacttaggatgttattGaaattgctctcaggtaccac	12	12	7	10	0	1	1	1	1	1	0	2	2	1	2	2	2	2	3	2	2	4	5			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr13:103718522G>T	ENST00000245312.3	-	1	674	c.78C>A	c.(76-78)ttC>ttA	p.F26L		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	26					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GGATGTTATTGAAATTGCTCT	0.478													7	133					0.000157383	0.000160469	1	1	0	T	103718522	G	T	103718522	3	4	158	1	0	0	0	0	1	0	0	0	14429	1281	45	4	992	4	SLC10A2	13	103718522	Missense_Mutation	SNP	G	TCGA-H9-A6BY-01A-11D-A30E-08	78822725	103718522	11451356	24	7446											
HCN4	10021	broad.mit.edu	37	chr15	73622050	73622050	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcggacatgcccacgggcGcctgccgcccgtagccgatg	5	5	14	17	7	0	0	0	0	0	0	1	2	0	1	5	2	3	1	5	2	1	1			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr15:73622050G>A	ENST00000261917.3	-	4	2447	c.1454C>T	c.(1453-1455)gCg>gTg	p.A485V		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	485					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GCCCACGGGCGCCTGCCGCCC	0.622													39	62					0	0	1	0	0	A	73622050	G	A	73622050	3	1	158	1	0	0	0	0	1	0	0	0	7040	1087	38	1	2177	1	HCN4	15	73622050	Missense_Mutation	SNP	G	TCGA-H9-A6BY-01A-11D-A30E-08		73622050	28909342	25	7447											
ACAN	176	broad.mit.edu	37	chr15	89398710	89398710	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttctggagaagttctagagaCctctgcctctggagtaggag	9	11	13	8	0	4	2	0	0	4	2	4	6	4	4	2	3	1	2	2	3	3	4			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr15:89398710C>T	ENST00000439576.2	+	12	3268	c.2894C>T	c.(2893-2895)aCc>aTc	p.T965I	ACAN_ENST00000352105.7_Missense_Mutation_p.T965I|ACAN_ENST00000561243.1_Missense_Mutation_p.T965I|ACAN_ENST00000559004.1_Missense_Mutation_p.T965I	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	965					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GTTCTAGAGACCTCTGCCTCT	0.562													5	226					0	0	1	0	0	T	89398710	C	T	89398710	3	4	158	1	0	0	0	0	1	0	0	0	117	507	18	2	2936	2	ACAN	15	89398710	Missense_Mutation	SNP	C	TCGA-H9-A6BY-01A-11D-A30E-08	15776660	89398710	13132682	26	7448											
CACNA1H	8912	broad.mit.edu	37	chr16	1259227	1259227	+	Frame_Shift_Del	DEL	G	G	-																															aggacggcagggccgcgcccGggccccgtgccaccccactg																										TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr16:1259227delG	ENST00000348261.5	+	17	3807	c.3559delG	c.(3559-3561)ggfs	p.G1187fs	CACNA1H_ENST00000358590.4_Frame_Shift_Del_p.G1187fs|CACNA1H_ENST00000565831.1_Frame_Shift_Del_p.G1187fs	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1187					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	GGCCGCGCCCGGGCCCCGTGC	0.761													2	4	---	---	---	---						-	1259227	G	-	1259227	7	5	158	1	0	1	0	1	0	0	0	0	2563	1116	39	0	3621	0	CACNA1H	16	1259227	Frame_Shift_Del	DEL	G	TCGA-H9-A6BY-01A-11D-A30E-08		1259227	89095526	27	7449											
TMC7	79905	broad.mit.edu	37	chr16	19041626	19041626	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaacttcacctatgatctGcccctggcgtatttgttaag	9	13	8	11	1	2	2	1	1	1	1	2	2	2	2	3	1	2	2	3	1	4	5			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr16:19041626G>A	ENST00000421369.3	+	6	1020	c.462G>A	c.(460-462)ctG>ctA	p.L154L	TMC7_ENST00000569532.1_Silent_p.L264L|TMC7_ENST00000304381.5_Silent_p.L264L	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	264						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						CCTATGATCTGCCCCTGGCGT	0.468													36	63					0	0	1	0	0	A	19041626	G	A	19041626	2	1	158	1	0	0	0	0	0	0	0	1	16050	1306	46	2		2	TMC7	16	19041626	Silent	SNP	G	TCGA-H9-A6BY-01A-11D-A30E-08	17782399	19041626	71313127	28	7450											
NDRG4	65009	broad.mit.edu	37	chr16	58545390	58545390	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccctcaccagtgccagctcGgtggatggcagccgcccaca	7	6	11	17	2	1	0	1	0	0	0	3	1	2	1	5	3	3	2	5	3	0	0			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr16:58545390G>A	ENST00000394282.4	+	16	1493	c.1086G>A	c.(1084-1086)tcG>tcA	p.S362S	NDRG4_ENST00000562999.1_Silent_p.S298S|NDRG4_ENST00000566192.1_Silent_p.S310S|NDRG4_ENST00000563799.1_Silent_p.S328S|NDRG4_ENST00000568640.1_Silent_p.S328S|NDRG4_ENST00000356752.4_Silent_p.S340S|NDRG4_ENST00000569923.1_Silent_p.S255S|NDRG4_ENST00000394279.2_Silent_p.S342S|NDRG4_ENST00000570248.1_Silent_p.S323S|NDRG4_ENST00000258187.5_Silent_p.S342S	NM_001130487.1	NP_001123959.1	Q9ULP0	NDRG4_HUMAN	NDRG family member 4	323					cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						GTGCCAGCTCGGTGGATGGCA	0.657													4	136					0	0	1	0	0	A	58545390	G	A	58545390	2	1	158	1	0	0	0	0	0	0	0	1	10301	1103	39	1		1	NDRG4	16	58545390	Silent	SNP	G	TCGA-H9-A6BY-01A-11D-A30E-08	39503764	58545390	31809363	29	7451											
CCDC144A	9720	broad.mit.edu	37	chr17	16593777	16593777	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctccgaagccggcagtctaCgccacgaggaagacccctag	10	5	11	15	4	2	1	0	0	2	1	3	4	2	2	5	2	2	1	5	2	4	2			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr17:16593777C>T	ENST00000443444.2	+	1	203	c.63C>T	c.(61-63)taC>taT	p.Y21Y	RP11-219A15.1_ENST00000448331.3_Silent_p.Y21Y|CCDC144A_ENST00000340621.5_Silent_p.Y21Y|CCDC144A_ENST00000360524.8_Silent_p.Y21Y|CCDC144A_ENST00000399273.1_Silent_p.Y21Y|CCDC144A_ENST00000456009.1_Silent_p.Y21Y|CCDC144A_ENST00000436374.1_3'UTR			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	21																	CGGCAGTCTACGCCACGAGGA	0.667													18	27					0	0	1	0	0	T	16593777	C	T	16593777	2	4	158	1	0	0	0	0	0	0	0	1	2795	547	19	1		1	CCDC144A	17	16593777	Silent	SNP	C	TCGA-H9-A6BY-01A-11D-A30E-08		16593777	64601433	30	7452											
TMC6	11322	broad.mit.edu	37	chr17	76117241	76117241	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcctggccagcagcctctGgactctgcaggggtgcaggg	5	7	15	14	0	2	0	0	0	2	0	3	1	3	1	4	5	4	3	4	5	0	0			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr17:76117241G>A	ENST00000590602.1	-	12	1547	c.1388C>T	c.(1387-1389)cCa>cTa	p.P463L	TMC6_ENST00000322933.4_Missense_Mutation_p.P102L|TMC6_ENST00000392467.3_Missense_Mutation_p.P463L|TMC6_ENST00000589553.1_Missense_Mutation_p.P236L|TMC6_ENST00000592076.1_Intron|TMC6_ENST00000306591.7_Intron|TMC6_ENST00000322914.3_Missense_Mutation_p.P463L|TMC6_ENST00000591436.1_Missense_Mutation_p.P102L			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	463						endoplasmic reticulum membrane|integral to membrane				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AGCAGCCTCTGGACTCTGCAG	0.697													6	15					0	0	1	0	0	A	76117241	G	A	76117241	3	1	158	1	0	0	0	0	1	0	0	0	16049	1348	47	2	1065	2	TMC6	17	76117241	Missense_Mutation	SNP	G	TCGA-H9-A6BY-01A-11D-A30E-08	59523464	76117241	5077969	31	7453											
DNAH17	8632	broad.mit.edu	37	chr17	76435207	76435207	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcctttctctgcagccaCgtccagggcgttctcagcca	5	11	10	15	2	2	0	1	0	2	0	6	0	4	0	4	1	3	2	4	1	0	2			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr17:76435207C>T	ENST00000389840.5	-	73	11852	c.11728G>A	c.(11728-11730)Gtg>Atg	p.V3910M	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.V3919M					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCTGCAGCCACGTCCAGGGCG	0.562													4	37					0	0	1	0	0	T	76435207	C	T	76435207	3	4	158	1	0	0	0	0	1	0	0	0	4629	536	19	1	1654	1	DNAH17	17	76435207	Missense_Mutation	SNP	C	TCGA-H9-A6BY-01A-11D-A30E-08	317966	76435207	4760003	32	7454											
PTPRA	0	broad.mit.edu	37	chr20	3017847	3017847	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgccctgagcaccgtccTggagcgtgtgaaagcagagg	8	7	15	11	2	0	3	0	2	0	1	1	4	1	4	3	2	4	2	3	2	1	0			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr20:3017847T>A	ENST00000216877.6	+	22	2619	c.2219T>A	c.(2218-2220)cTg>cAg	p.L740Q	PTPRA_ENST00000425918.2_Missense_Mutation_p.L760Q|PTPRA_ENST00000356147.3_Missense_Mutation_p.L740Q|PTPRA_ENST00000380393.3_Missense_Mutation_p.L749Q|PTPRA_ENST00000358719.4_Missense_Mutation_p.L605Q|PTPRA_ENST00000318266.5_Missense_Mutation_p.L740Q|PTPRA_ENST00000399903.2_Missense_Mutation_p.L749Q	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	749	Tyrosine-protein phosphatase 2.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AGCACCGTCCTGGAGCGTGTG	0.592													38	76					0	0	1	0	0	A	3017847	T	A	3017847	3	1	158	1	0	0	0	0	1	0	0	0	12847	1580	55	5	2324	5	PTPRA	20	3017847	Missense_Mutation	SNP	T	TCGA-H9-A6BY-01A-11D-A30E-08		3017847	60007673	33	7455											
SBF1	6305	broad.mit.edu	37	chr22	50900484	50900484	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaccacagccccagctacgtCgcaggtctctgcatcctcga	8	7	9	17	3	1	0	0	0	1	0	5	2	2	0	4	1	4	3	4	1	1	1			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chr22:50900484C>T	ENST00000380817.2	-	20	2644	c.2461G>A	c.(2461-2463)Gac>Aac	p.D821N	SBF1_ENST00000390679.3_Missense_Mutation_p.D821N|SBF1_ENST00000348911.6_Missense_Mutation_p.D822N	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	821					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CCAGCTACGTCGCAGGTCTCT	0.617													63	158					0	0	1	0	0	T	50900484	C	T	50900484	3	4	158	1	0	0	0	0	1	0	0	0	13911	884	31	1	3308	1	SBF1	22	50900484	Missense_Mutation	SNP	C	TCGA-H9-A6BY-01A-11D-A30E-08		50900484	404082	34	7456											
FAAH2	158584	broad.mit.edu	37	chrX	57458438	57458438	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actcttttcagttgtggatcGcaatgatgtcagcaaaggga	11	12	11	7	1	3	1	2	1	1	0	4	3	3	3	0	2	1	3	0	2	2	3	rs138462668	byFrequency	TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chrX:57458438G>A	ENST00000374900.4	+	8	1204	c.1084G>A	c.(1084-1086)Gca>Aca	p.A362T	FAAH2_ENST00000491179.1_3'UTR	NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	362						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						GTTGTGGATCGCAATGATGTC	0.348										HNSCC(52;0.14)			31	4					0	0	1	0	0	A	57458438	G	A	57458438	3	1	158	1	0	0	0	0	1	0	0	0	5385	1087	38	1	1114	1	FAAH2	23	57458438	Missense_Mutation	SNP	G	TCGA-H9-A6BY-01A-11D-A30E-08		57458438	97812122	35	7457											
RPA4	29935	broad.mit.edu	37	chrX	96140039	96140039	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagcgattgattatctgaccGttgagggccacatctatccc	10	11	9	11	2	2	3	0	3	2	0	3	4	3	3	3	1	1	1	3	1	3	4			TCGA-H9-A6BY-01A-11D-A30E-08	TCGA-H9-A6BY-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4e25c1b9-c691-44c5-bc32-85ddca3e1196	57d5137e-6a41-4e03-a279-e4ee1cf06472	g.chrX:96140039G>A	ENST00000373040.3	+	1	1133	c.730G>A	c.(730-732)Gtt>Att	p.V244I	DIAPH2_ENST00000373049.4_Intron|DIAPH2_ENST00000355827.4_Intron|DIAPH2_ENST00000324765.8_Intron|DIAPH2_ENST00000373054.4_Intron|DIAPH2_ENST00000373061.3_Intron	NM_013347.4	NP_037479.1	Q13156	RFA4_HUMAN	replication protein A4, 30kDa	244					DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair	DNA replication factor A complex|nucleoplasm	single-stranded DNA binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						TTATCTGACCGTTGAGGGCCA	0.507								Other identified genes with known or suspected DNA repair function					3	39					0	0	1	0	0	A	96140039	G	A	96140039	3	1	158	1	0	0	0	0	1	0	0	0	13591	1145	40	1	732	1	RPA4	23	96140039	Missense_Mutation	SNP	G	TCGA-H9-A6BY-01A-11D-A30E-08	38681601	96140039	59130521	36	7458											
CELA2B	51032	broad.mit.edu	37	chr1	15802967	15802967	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagccctcagttgtggggTctccacttacgcgcctgata	7	10	10	14	2	2	1	1	1	1	0	3	1	2	1	3	2	2	1	3	2	2	3			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr1:15802967T>A	ENST00000375910.3	+	2	81	c.56T>A	c.(55-57)gTc>gAc	p.V19D	CELA2B_ENST00000494280.1_3'UTR	NM_015849.2	NP_056933.2	P08218	CEL2B_HUMAN	chymotrypsin-like elastase family, member 2B	19					proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						AGTTGTGGGGTCTCCACTTAC	0.527													5	156					0	0	0.000602	0	0	A	15802967	T	A	15802967	3	1	159	1	0	0	0	0	1	0	0	0	3234	1667	58	5	62	5	CELA2B	1	15802967	Missense_Mutation	SNP	T	TCGA-HC-7075-01A-11D-1961-08		15802967	233447654	1	7459											
VCAM1	7412	broad.mit.edu	37	chr1	101188742	101188742	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatttctggaggatgcagaCaggaagtccctggaaaccaa	14	7	12	8	0	1	1	0	0	1	1	2	6	2	5	2	4	2	1	2	4	4	1			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr1:101188742C>G	ENST00000294728.2	+	3	608	c.507C>G	c.(505-507)gaC>gaG	p.D169E	VCAM1_ENST00000347652.2_Missense_Mutation_p.D169E|VCAM1_ENST00000370119.4_Missense_Mutation_p.D107E|VCAM1_ENST00000370115.1_Missense_Mutation_p.D169E	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	169	Ig-like C2-type 2.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	AGGATGCAGACAGGAAGTCCC	0.418													13	43					0	0	0.001368	0	0	G	101188742	C	G	101188742	3	3	159	1	0	0	0	0	1	0	0	0	17197	477	17	4	517	4	VCAM1	1	101188742	Missense_Mutation	SNP	C	TCGA-HC-7075-01A-11D-1961-08	85385775	101188742	148061879	2	7460											
LCE1D	353134	broad.mit.edu	37	chr1	152770502	152770502	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcctgagccaccacaggCgccacaggtcccaccgtcgc	7	4	11	19	3	0	1	0	1	0	0	2	1	1	1	6	2	2	1	6	2	0	0	rs142021851		TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr1:152770502C>T	ENST00000326233.6	+	2	275	c.232C>T	c.(232-234)Cgc>Tgc	p.R78C		NM_178352.2	NP_848129.1	Q5T752	LCE1D_HUMAN	late cornified envelope 1D	78	Cys-rich.		R -> H (in dbSNP:rs41268490).		cellular response to calcium ion|keratinization	cornified envelope|perinuclear region of cytoplasm				large_intestine(1)	1	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCACCACAGGCGCCACAGGTC	0.716													6	67					0	0	0.001168	0	0	T	152770502	C	T	152770502	3	4	159	1	0	0	0	0	1	0	0	0	8701	768	27	1	234	1	LCE1D	1	152770502	Missense_Mutation	SNP	C	TCGA-HC-7075-01A-11D-1961-08	51581760	152770502	96480119	3	7461											
TNN	63923	broad.mit.edu	37	chr1	175054615	175054615	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagggcaagccgatcctcCtgaatggcaggacaggtgag	10	6	16	9	1	0	2	0	2	0	0	2	5	2	4	3	5	1	2	3	5	2	0			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr1:175054615C>T	ENST00000239462.4	+	6	1422	c.1309C>T	c.(1309-1311)Ctg>Ttg	p.L437L		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	437	Fibronectin type-III 2.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GCCGATCCTCCTGAATGGCAG	0.517													6	12					0	0	0.001984	0	0	T	175054615	C	T	175054615	2	4	159	1	0	0	0	0	0	0	0	1	16383	680	24	2		2	TNN	1	175054615	Silent	SNP	C	TCGA-HC-7075-01A-11D-1961-08	22284113	175054615	74196006	4	7462											
SP110	3431	broad.mit.edu	37	chr2	231033887	231033887	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attggcttcatgaaaaccgaGcacgtctttgagatcttttt	10	15	8	8	2	3	2	1	2	2	1	3	4	3	2	1	1	2	2	1	1	2	5			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr2:231033887G>A	ENST00000258381.6	-	19	2172	c.2095C>T	c.(2095-2097)Ctc>Ttc	p.L699F	SP110_ENST00000358662.4_Missense_Mutation_p.L675F	NM_080424.2	NP_536349.2	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	675					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		TGAAAACCGAGCACGTCTTTG	0.458													74	151					0	0	0.00361	0	0	A	231033887	G	A	231033887	3	1	159	1	0	0	0	0	1	0	0	0	15015	971	34	2	50	2	SP110	2	231033887	Missense_Mutation	SNP	G	TCGA-HC-7075-01A-11D-1961-08		231033887	12165486	5	7463											
CLASP2	23122	broad.mit.edu	37	chr3	33552113	33552113	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtttccttggacactctctcTatcacttttgtttgcatttt	5	21	5	10	0	3	0	1	0	2	0	5	1	4	1	1	1	1	3	1	1	1	8			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr3:33552113T>C	ENST00000399362.4	-	37	4628	c.4275A>G	c.(4273-4275)atA>atG	p.I1425M	CLASP2_ENST00000539981.1_3'UTR|CLASP2_ENST00000307312.7_Missense_Mutation_p.I907M|CLASP2_ENST00000480013.1_Missense_Mutation_p.I1205M|CLASP2_ENST00000468888.2_Missense_Mutation_p.I1426M|CLASP2_ENST00000461133.3_Missense_Mutation_p.I1185M|CLASP2_ENST00000359576.5_Missense_Mutation_p.I1417M	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN	cytoplasmic linker associated protein 2	1427										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						ACACTCTCTCTATCACTTTTG	0.413													9	61					0	0	0.008291	0	0	C	33552113	T	C	33552113	3	2	159	1	0	0	0	0	1	0	0	0	3478	1512	53	3	278	3	CLASP2	3	33552113	Missense_Mutation	SNP	T	TCGA-HC-7075-01A-11D-1961-08		33552113	164470317	6	7464											
SLC2A9	56606	broad.mit.edu	37	chr4	9982359	9982359	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggagcacactgagggcgaCgcctgtagagagaaagcata	13	4	16	8	2	0	3	0	1	0	2	0	6	0	4	1	3	2	3	1	3	3	2			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr4:9982359C>T	ENST00000506583.1	-	7	668	c.451G>A	c.(451-453)Gtc>Atc	p.V151I	SLC2A9_ENST00000309065.3_Missense_Mutation_p.V151I|SLC2A9_ENST00000264784.3_Missense_Mutation_p.V180I			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	180					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						CTGAGGGCGACGCCTGTAGAG	0.557													4	43					0	0	0.000248	0	0	T	9982359	C	T	9982359	3	4	159	1	0	0	0	0	1	0	0	0	14607	536	19	1	1116	1	SLC2A9	4	9982359	Missense_Mutation	SNP	C	TCGA-HC-7075-01A-11D-1961-08		9982359	181171917	7	7465											
MAML3	55534	broad.mit.edu	37	chr4	140641036	140641036	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccttgctggactgttcccAtaaggctctgcagccttgga	6	12	10	13	0	1	0	0	0	1	0	3	2	3	2	3	3	3	4	3	3	1	4			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr4:140641036A>T	ENST00000509479.2	-	5	3714	c.2858T>A	c.(2857-2859)aTg>aAg	p.M953K	MGST2_ENST00000515137.1_Intron	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	949	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					GACTGTTCCCATAAGGCTCTG	0.577													55	79					0	0	0.00361	0	0	T	140641036	A	T	140641036	3	4	159	1	0	0	0	0	1	0	0	0	9257	217	8	5	562	5	MAML3	4	140641036	Missense_Mutation	SNP	A	TCGA-HC-7075-01A-11D-1961-08	130658677	140641036	50513240	8	7466											
DCHS2	54798	broad.mit.edu	37	chr4	155157178	155157178	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgagtgaaaatgggctcaaAttcatctatcccttcaatat	13	14	6	8	0	4	2	3	2	1	0	5	2	5	2	1	1	0	1	1	1	6	5			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr4:155157178A>G	ENST00000357232.3	-	25	7260	c.7261T>C	c.(7261-7263)Ttt>Ctt	p.F2421L		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2421	Cadherin 21.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ATGGGCTCAAATTCATCTATC	0.433													3	53					0	0	0.000602	0	0	G	155157178	A	G	155157178	3	3	159	1	0	0	0	0	1	0	0	0	4311	101	4	3	1493	3	DCHS2	4	155157178	Missense_Mutation	SNP	A	TCGA-HC-7075-01A-11D-1961-08	14516142	155157178	35997098	9	7467											
FSTL5	56884	broad.mit.edu	37	chr4	162680679	162680679	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgccaagttcttcctgttttAtcacctaacaagaaaattat	13	15	4	9	0	2	1	1	0	1	1	3	1	3	1	3	0	2	2	3	0	7	6			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr4:162680679A>G	ENST00000306100.5	-	6	1047	c.611T>C	c.(610-612)aTa>aCa	p.I204T	FSTL5_ENST00000379164.4_Missense_Mutation_p.I203T|FSTL5_ENST00000536695.1_Missense_Mutation_p.I203T|FSTL5_ENST00000427802.2_Missense_Mutation_p.I203T	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	204	EF-hand 1.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TTCCTGTTTTATCACCTAACA	0.274													11	53					0	0	0.000978	0	0	G	162680679	A	G	162680679	3	3	159	1	0	0	0	0	1	0	0	0	6115	449	16	3	1976	3	FSTL5	4	162680679	Missense_Mutation	SNP	A	TCGA-HC-7075-01A-11D-1961-08	7523501	162680679	28473597	10	7468											
CLCN3	0	broad.mit.edu	37	chr4	170625197	170625197	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggccattggagcgatcgcaGgaaggattgtggggattgcg	8	9	18	6	3	0	0	0	0	0	0	1	5	0	4	1	6	2	1	1	6	1	3			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr4:170625197G>C	ENST00000513761.1	+	10	2171	c.1612G>C	c.(1612-1614)Gga>Cga	p.G538R	CLCN3_ENST00000347613.4_Missense_Mutation_p.G538R|CLCN3_ENST00000504131.2_Missense_Mutation_p.G521R|CLCN3_ENST00000360642.3_Missense_Mutation_p.G511R	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	538					endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		AGCGATCGCAGGAAGGATTGT	0.507													13	70					0	0	0.001855	0	0	C	170625197	G	C	170625197	3	2	159	1	0	0	0	0	1	0	0	0	3487	1001	35	4	1646	4	CLCN3	4	170625197	Missense_Mutation	SNP	G	TCGA-HC-7075-01A-11D-1961-08	7944518	170625197	20529079	11	7469											
HAPLN1	1404	broad.mit.edu	37	chr5	82940276	82940276	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgggcactgtgttctgcccCccacagggctctctgggctt	3	10	12	16	1	2	0	0	0	2	0	3	0	2	0	4	3	1	4	4	3	0	2			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr5:82940276C>A	ENST00000274341.4	-	4	1531	c.681G>T	c.(679-681)ggG>ggT	p.G227G		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	227	Link 1.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		TGTTCTGCCCCCCACAGGGCT	0.517													19	87					1.87028e-06	3.66722e-06	0.001882	1	0	A	82940276	C	A	82940276	2	1	159	1	0	0	0	0	0	0	0	1	6995	610	22	4		4	HAPLN1	5	82940276	Silent	SNP	C	TCGA-HC-7075-01A-11D-1961-08		82940276	97974984	12	7470											
TMEM217	221468	broad.mit.edu	37	chr6	37186257	37186257	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccactgaacccactcgaaaTtgataatcttttatttctgc	11	14	5	11	1	2	2	0	2	2	0	3	3	2	2	2	0	2	0	2	0	4	5			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr6:37186257T>C	ENST00000336655.2	-	2	589	c.550A>G	c.(550-552)Att>Gtt	p.I184V	TMEM217_ENST00000497775.1_Intron|TMEM217_ENST00000356757.2_Missense_Mutation_p.I184V	NM_145316.3	NP_660359.2	Q8N7C4	TM217_HUMAN	transmembrane protein 217	184						integral to membrane				endometrium(2)|kidney(1)|large_intestine(5)|lung(1)	9						ccACTCGAAATTGATAATCTT	0.478													4	113					0	0	0.000248	0	0	C	37186257	T	C	37186257	3	2	159	1	0	0	0	0	1	0	0	0	16200	1493	52	3	151	3	TMEM217	6	37186257	Missense_Mutation	SNP	T	TCGA-HC-7075-01A-11D-1961-08		37186257	133928810	13	7471											
PREP	5550	broad.mit.edu	37	chr6	105821366	105821366	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagctctttggcaccatcaActttcatgaacttgattgtc	10	14	7	10	0	3	2	2	2	1	0	4	3	3	2	1	1	3	2	1	1	3	4			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr6:105821366A>C	ENST00000369110.3	-	5	665	c.473T>G	c.(472-474)gTt>gGt	p.V158G		NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	158					proteolysis		serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	GGCACCATCAACTTTCATGAA	0.473													10	83					0	0	0.006214	0	0	C	105821366	A	C	105821366	3	2	159	1	0	0	0	0	1	0	0	0	12526	43	2	5	1703	5	PREP	6	105821366	Missense_Mutation	SNP	A	TCGA-HC-7075-01A-11D-1961-08	68635109	105821366	65293701	14	7472											
PAX4	5078	broad.mit.edu	37	chr7	127255106	127255106	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttggctccaagacacctgtgCggtagtaacgccctaggatc	9	9	11	12	2	0	1	0	0	0	1	2	2	1	2	3	3	2	3	3	3	4	4			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr7:127255106C>T	ENST00000341640.2	-	2	369	c.164G>A	c.(163-165)cGc>cAc	p.R55H	PAX4_ENST00000338516.3_Missense_Mutation_p.R63H|PAX4_ENST00000378740.2_Missense_Mutation_p.R55H|PAX4_ENST00000463946.1_Missense_Mutation_p.R53H	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	63	Paired.				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GACACCTGTGCGGTAGTAACG	0.572													27	114					0	0	0.005443	0	0	T	127255106	C	T	127255106	3	4	159	1	0	0	0	0	1	0	0	0	11528	768	27	1	899	1	PAX4	7	127255106	Missense_Mutation	SNP	C	TCGA-HC-7075-01A-11D-1961-08		127255106	31883557	15	7473											
ANK1	286	broad.mit.edu	37	chr8	41557063	41557063	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgaagctgatgagttctTcccctgaaacagcaagagct	11	10	9	11	0	1	5	0	4	1	1	2	5	2	5	3	0	4	4	3	0	3	3			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr8:41557063T>G	ENST00000396942.1	-	23	2548	c.2465A>C	c.(2464-2466)gAa>gCa	p.E822A	ANK1_ENST00000265709.8_Missense_Mutation_p.E863A|ANK1_ENST00000289734.7_Missense_Mutation_p.E822A|ANK1_ENST00000352337.4_Missense_Mutation_p.E822A|ANK1_ENST00000396945.1_Missense_Mutation_p.E822A|ANK1_ENST00000347528.4_Missense_Mutation_p.E822A|ANK1_ENST00000379758.2_Missense_Mutation_p.E822A			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	822	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GATGAGTTCTTCCCCTGAAAC	0.522													50	155					0	0	0.00361	0	0	G	41557063	T	G	41557063	3	3	159	1	0	0	0	0	1	0	0	0	616	1783	62	5	3586	5	ANK1	8	41557063	Missense_Mutation	SNP	T	TCGA-HC-7075-01A-11D-1961-08		41557063	104806959	16	7474											
ENPP2	0	broad.mit.edu	37	chr8	120575111	120575111	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcacattgcagctctcctCgttgtcaggccggtgaggca	7	10	11	13	2	3	1	2	1	1	0	5	1	3	1	2	3	2	4	2	3	0	2			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr8:120575111C>A	ENST00000427067.2	-	25	2650	c.2470G>T	c.(2470-2472)Gag>Tag	p.E824*	ENPP2_ENST00000522826.1_Nonsense_Mutation_p.E828*|ENPP2_ENST00000075322.6_Nonsense_Mutation_p.E803*|ENPP2_ENST00000522167.1_Nonsense_Mutation_p.E438*|ENPP2_ENST00000259486.6_Nonsense_Mutation_p.E855*			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	803					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CAGCTCTCCTCGTTGTCAGGC	0.483													5	79					3.59834e-05	6.91988e-05	0.001168	1	0	A	120575111	C	A	120575111	4	1	159	1	0	0	0	0	0	1	0	0	5158	893	31	4	192	4	ENPP2	8	120575111	Nonsense_Mutation	SNP	C	TCGA-HC-7075-01A-11D-1961-08	79018048	120575111	25788911	17	7475											
CSGALNACT2	55454	broad.mit.edu	37	chr10	43650664	43650664	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgggccttgctttgctcTgcagtttggtattatttatg	4	20	11	6	0	1	0	0	0	1	0	1	0	1	0	1	2	3	6	1	2	3	8			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr10:43650664T>A	ENST00000374466.3	+	2	402	c.67T>A	c.(67-69)Tgc>Agc	p.C23S	CSGALNACT2_ENST00000374464.1_Missense_Mutation_p.C23S	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	23					chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TGCTTTGCTCTGCAGTTTGGT	0.438													5	84					0	0	0.001168	0	0	A	43650664	T	A	43650664	3	1	159	1	0	0	0	0	1	0	0	0	3964	1580	55	5	69	5	CSGALNACT2	10	43650664	Missense_Mutation	SNP	T	TCGA-HC-7075-01A-11D-1961-08		43650664	91884083	18	7476											
MYOF	26509	broad.mit.edu	37	chr10	95089443	95089443	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtactcctctggtatgcCgcagtgggacccaaagcggg	9	7	13	12	2	1	0	0	0	1	0	2	1	2	1	3	3	3	3	3	3	3	2			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr10:95089443C>T	ENST00000371501.4	-	44	5082	c.4960G>A	c.(4960-4962)Ggc>Agc	p.G1654S	MYOF_ENST00000371502.4_Missense_Mutation_p.G1673S|MYOF_ENST00000359263.4_Missense_Mutation_p.G1654S|MYOF_ENST00000485212.1_5'UTR|MYOF_ENST00000358334.5_Missense_Mutation_p.G1641S			Q9NZM1	MYOF_HUMAN	myoferlin	1654					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TCTGGTATGCCGCAGTGGGAC	0.483													5	63					0	0	0.001168	0	0	T	95089443	C	T	95089443	3	4	159	1	0	0	0	0	1	0	0	0	10137	652	23	1	1269	1	MYOF	10	95089443	Missense_Mutation	SNP	C	TCGA-HC-7075-01A-11D-1961-08	51438779	95089443	40445304	19	7477											
NLRP14	338323	broad.mit.edu	37	chr11	7064143	7064143	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagtagtttgctgaggaaaGtgatgctccctgaggcatcc	9	11	13	8	0	0	4	0	4	0	0	2	5	2	5	2	2	2	5	2	2	2	2			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr11:7064143G>T	ENST00000299481.4	+	4	1232	c.886G>T	c.(886-888)Gtg>Ttg	p.V296L		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	296	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GCTGAGGAAAGTGATGCTCCC	0.448													13	53					4.3838e-07	8.7676e-07	0.001855	1	0	T	7064143	G	T	7064143	3	4	159	1	0	0	0	0	1	0	0	0	10523	1029	36	4	896	4	NLRP14	11	7064143	Missense_Mutation	SNP	G	TCGA-HC-7075-01A-11D-1961-08		7064143	127942373	20	7478											
CD3G	917	broad.mit.edu	37	chr11	118223127	118223127	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtcctttccagcccctcaaGgatcgagaagatgaccagta	11	9	9	12	1	1	3	1	1	0	2	4	5	3	4	5	1	1	1	5	1	3	2			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr11:118223127G>A	ENST00000532917.1	+	6	560	c.492G>A	c.(490-492)aaG>aaA	p.K164K	CD3G_ENST00000392883.2_Silent_p.K60K|CD3G_ENST00000532903.1_3'UTR	NM_000073.2	NP_000064.1	P09693	CD3G_HUMAN	CD3g molecule, gamma (CD3-TCR complex)	164	ITAM.				establishment or maintenance of cell polarity|protein complex assembly|protein transport|regulation of apoptosis|T cell activation|T cell costimulation|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	protein heterodimerization activity|receptor signaling complex scaffold activity|T cell receptor binding|transmembrane receptor activity			breast(2)|kidney(1)|large_intestine(2)|skin(1)	6	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		AGCCCCTCAAGGATCGAGAAG	0.393													74	118					0	0	0.00361	0	0	A	118223127	G	A	118223127	2	1	159	1	0	0	0	0	0	0	0	1	3035	991	35	2		2	CD3G	11	118223127	Silent	SNP	G	TCGA-HC-7075-01A-11D-1961-08	111158984	118223127	16783389	21	7479											
SLC38A4	55089	broad.mit.edu	37	chr12	47163194	47163194	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgtttgggaaataacagtgtGatcactgatgtacgaatctt	12	13	10	6	2	2	2	1	2	1	0	2	4	2	3	0	1	2	2	0	1	4	4			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr12:47163194G>C	ENST00000447411.1	-	14	1523	c.1317C>G	c.(1315-1317)atC>atG	p.I439M	SLC38A4_ENST00000266579.4_Missense_Mutation_p.I439M	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	439					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					ATAACAGTGTGATCACTGATG	0.363													12	60					0	0	0.001368	0	0	C	47163194	G	C	47163194	3	2	159	1	0	0	0	0	1	0	0	0	14661	1280	45	4	338	4	SLC38A4	12	47163194	Missense_Mutation	SNP	G	TCGA-HC-7075-01A-11D-1961-08		47163194	86688701	22	7480											
ANKS1B	56899	broad.mit.edu	37	chr12	99837459	99837459	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgggcacttacctggggtcGaatgacttttacaatatttt	9	15	9	8	1	0	1	0	1	0	0	1	2	0	1	1	3	2	1	1	3	5	6			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr12:99837459G>A	ENST00000547776.2	-	11	1566	c.1567C>T	c.(1567-1569)Cga>Tga	p.R523*	ANKS1B_ENST00000547010.1_Nonsense_Mutation_p.R103*|ANKS1B_ENST00000329257.7_Nonsense_Mutation_p.R523*	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	523						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		ACCTGGGGTCGAATGACTTTT	0.423													4	84					0	0	0.000248	0	0	A	99837459	G	A	99837459	4	1	159	1	0	0	0	0	0	1	0	0	683	1066	37	1	2531	1	ANKS1B	12	99837459	Nonsense_Mutation	SNP	G	TCGA-HC-7075-01A-11D-1961-08	52674265	99837459	34014436	23	7481											
SLC39A2	29986	broad.mit.edu	37	chr14	21469223	21469223	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaggatcgacagtgcaggacGaagaatggggtggggctcat	11	6	18	6	2	1	1	1	0	0	1	2	6	1	3	0	6	1	2	0	6	2	0	rs144375696	byFrequency	TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr14:21469223G>A	ENST00000298681.4	+	4	572	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K	SLC39A2_ENST00000554422.1_3'UTR	NM_014579.3	NP_055394.2	Q9NP94	S39A2_HUMAN	solute carrier family 39 (zinc transporter), member 2	139						cytoplasmic membrane-bounded vesicle|integral to plasma membrane	zinc ion transmembrane transporter activity			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	14	all_cancers(95;0.00267)		OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0187)		AGTGCAGGACGAAGAATGGGG	0.547													32	164					0	0	0.001786	0	0	A	21469223	G	A	21469223	3	1	159	1	0	0	0	0	1	0	0	0	14673	1059	37	1	429	1	SLC39A2	14	21469223	Missense_Mutation	SNP	G	TCGA-HC-7075-01A-11D-1961-08		21469223	85880317	24	7482											
RGS6	9628	broad.mit.edu	37	chr14	72976881	72976881	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaaagagcccagccaacagCgagtaaaaagatggggcttc	15	4	12	10	1	0	2	0	0	0	2	1	3	0	2	2	2	4	3	2	2	5	2			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr14:72976881C>T	ENST00000553530.1	+	14	1192	c.985C>T	c.(985-987)Cga>Tga	p.R329*	RGS6_ENST00000554782.1_Nonsense_Mutation_p.R190*|RGS6_ENST00000404301.2_Nonsense_Mutation_p.R329*|RGS6_ENST00000406236.4_Nonsense_Mutation_p.R329*|RGS6_ENST00000553525.1_Nonsense_Mutation_p.R329*|RGS6_ENST00000407322.4_Nonsense_Mutation_p.R329*|RGS6_ENST00000355512.6_Nonsense_Mutation_p.R329*|RGS6_ENST00000556437.1_Nonsense_Mutation_p.R329*|RGS6_ENST00000434263.2_Nonsense_Mutation_p.R260*|RGS6_ENST00000555571.1_Nonsense_Mutation_p.R329*|RGS6_ENST00000402788.2_Nonsense_Mutation_p.R329*|RGS6_ENST00000343854.6_Nonsense_Mutation_p.R292*	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	329	G protein gamma.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		CAGCCAACAGCGAGTAAAAAG	0.458													6	191					0	0	0.001168	0	0	T	72976881	C	T	72976881	4	4	159	1	0	0	0	0	0	1	0	0	13359	760	27	1	1035	1	RGS6	14	72976881	Nonsense_Mutation	SNP	C	TCGA-HC-7075-01A-11D-1961-08	51507658	72976881	34372659	25	7483											
RTL1	388015	broad.mit.edu	37	chr14	101349274	101349274	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgcatcctggcacccacagGttcccaaggcgcggtggagg	7	7	14	13	2	0	0	0	0	0	0	2	1	2	1	3	6	1	3	3	6	1	2			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr14:101349274G>A	ENST00000534062.1	-	1	1910	c.1852C>T	c.(1852-1854)Cct>Tct	p.P618S		NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN	retrotransposon-like 1	618										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						GCACCCACAGGTTCCCAAGGC	0.542													6	40					0	0	0.001168	0	0	A	101349274	G	A	101349274	3	1	159	1	0	0	0	0	1	0	0	0	13776	1261	44	2	2228	2	RTL1	14	101349274	Missense_Mutation	SNP	G	TCGA-HC-7075-01A-11D-1961-08	28372393	101349274	6000266	26	7484											
IQCH	64799	broad.mit.edu	37	chr15	67664646	67664646	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aactatgctataccagaagtCaaaataaaagggaataattt	20	10	6	5	0	1	1	1	0	0	1	1	2	1	2	1	1	3	1	1	1	11	6			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr15:67664646C>T	ENST00000335894.4	+	9	1017	c.951C>T	c.(949-951)gtC>gtT	p.V317V	IQCH_ENST00000360277.4_Silent_p.V69V|IQCH_ENST00000358767.3_Silent_p.V144V|IQCH_ENST00000546225.1_Silent_p.V65V	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN	IQ motif containing H	317										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		TACCAGAAGTCAAAATAAAAG	0.418													4	120					0	0	0.000602	0	0	T	67664646	C	T	67664646	2	4	159	1	0	0	0	0	0	0	0	1	7855	813	29	2		2	IQCH	15	67664646	Silent	SNP	C	TCGA-HC-7075-01A-11D-1961-08		67664646	34866746	27	7485											
SERPINB7	8710	broad.mit.edu	37	chr18	61471819	61471819	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accacccattcctatttgttAtcaggaaggatgacatcatc	12	12	6	11	0	2	1	2	1	0	0	4	3	3	3	3	2	0	1	3	2	3	4			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr18:61471819A>T	ENST00000398019.2	+	8	1418	c.1093A>T	c.(1093-1095)Atc>Ttc	p.I365F	SERPINB7_ENST00000336429.2_Missense_Mutation_p.I365F|SERPINB7_ENST00000546027.1_Missense_Mutation_p.I365F|SERPINB7_ENST00000540675.1_Missense_Mutation_p.I348F	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	365					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				CCTATTTGTTATCAGGAAGGA	0.453													4	90					0	0	0.000248	0	0	T	61471819	A	T	61471819	3	4	159	1	0	0	0	0	1	0	0	0	14160	449	16	5	1119	5	SERPINB7	18	61471819	Missense_Mutation	SNP	A	TCGA-HC-7075-01A-11D-1961-08		61471819	16605429	28	7486											
GPATCH1	55094	broad.mit.edu	37	chr19	33602720	33602720	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggcggccctgctgtacgCatcttcccattcgaccttgt	4	11	10	16	4	1	0	0	0	1	0	3	1	2	0	4	2	2	3	4	2	1	4			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr19:33602720C>G	ENST00000170564.2	+	12	1990	c.1676C>G	c.(1675-1677)gCa>gGa	p.A559G		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	559						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)					CTGCTGTACGCATCTTCCCAT	0.607													3	119					0	0	0.004672	0	0	G	33602720	C	G	33602720	3	3	159	1	0	0	0	0	1	0	0	0	6630	710	25	4	1722	4	GPATCH1	19	33602720	Missense_Mutation	SNP	C	TCGA-HC-7075-01A-11D-1961-08		33602720	25526263	29	7487											
ZNF599	148103	broad.mit.edu	37	chr19	35260439	35260439	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagtgaaggtcacaaccaCgtcttcaaatgatactaatg	14	10	7	10	1	3	2	2	2	1	0	4	2	4	2	2	1	2	0	2	1	5	3			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr19:35260439C>G	ENST00000587354.1	-	2	427	c.40G>C	c.(40-42)Gtg>Ctg	p.V14L	ZNF599_ENST00000588760.1_Missense_Mutation_p.V14L|ZNF599_ENST00000329285.7_Missense_Mutation_p.V14L			Q96NL3	ZN599_HUMAN	zinc finger protein 599	14	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			GTCACAACCACGTCTTCAAAT	0.532													3	115					0	0	0.000248	0	0	G	35260439	C	G	35260439	3	3	159	1	0	0	0	0	1	0	0	0	18086	536	19	4	1738	4	ZNF599	19	35260439	Missense_Mutation	SNP	C	TCGA-HC-7075-01A-11D-1961-08	1657719	35260439	23868544	30	7488											
STRN4	29888	broad.mit.edu	37	chr19	47236332	47236332	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatctgtttcaccagcagcGactccccaccactgagccct	8	8	7	18	2	2	1	1	1	1	0	3	3	3	1	5	0	3	2	5	0	0	1			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr19:47236332G>T	ENST00000391910.3	-	5	1151	c.701C>A	c.(700-702)tCg>tAg	p.S234*	STRN4_ENST00000539396.1_Nonsense_Mutation_p.S115*|STRN4_ENST00000263280.6_Nonsense_Mutation_p.S234*			Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	234						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		CACCAGCAGCGACTCCCCACC	0.647													6	36					0.00116845	0.00220461	0.001168	1	0	T	47236332	G	T	47236332	4	4	159	1	0	0	0	0	0	1	0	0	15387	1059	37	4	1633	4	STRN4	19	47236332	Nonsense_Mutation	SNP	G	TCGA-HC-7075-01A-11D-1961-08	11975893	47236332	11892651	31	7489											
RUVBL2	10856	broad.mit.edu	37	chr19	49507640	49507640	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcgggcagtccttattgctgGccagccgggcacggggaaga	7	7	16	11	3	0	1	0	0	0	1	2	2	1	2	3	5	2	3	3	5	2	2			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr19:49507640G>A	ENST00000413176.2	+	4	1243	c.95G>A	c.(94-96)gGc>gAc	p.G32D	RUVBL2_ENST00000601968.1_Missense_Mutation_p.G32D|RUVBL2_ENST00000595090.1_Missense_Mutation_p.G77D			Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	77					cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		CTTATTGCTGGCCAGCCGGGC	0.617													4	138					0	0	0.000602	0	0	A	49507640	G	A	49507640	3	1	159	1	0	0	0	0	1	0	0	0	13805	1203	42	2	244	2	RUVBL2	19	49507640	Missense_Mutation	SNP	G	TCGA-HC-7075-01A-11D-1961-08	2271308	49507640	9621343	32	7490											
PEG3	5178	broad.mit.edu	37	chr19	57328000	57328000	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggcctaaaggtttccccgcGctcacgttcacgttcacgtt	6	11	10	14	5	3	0	3	0	0	0	4	0	4	0	3	2	0	5	3	2	2	5			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr19:57328000G>A	ENST00000326441.9	-	10	2173	c.1810C>T	c.(1810-1812)Cgc>Tgc	p.R604C	ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.R480C|PEG3_ENST00000593695.1_Missense_Mutation_p.R478C|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.R604C|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000599935.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	604					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R604C(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GTTTCCCCGCGCtcacgttca	0.458													5	39					0	0	0.001168	0	0	A	57328000	G	A	57328000	3	1	159	1	0	0	0	0	1	0	0	0	11767	1087	38	1	2960	1	PEG3	19	57328000	Missense_Mutation	SNP	G	TCGA-HC-7075-01A-11D-1961-08	7820360	57328000	1800983	33	7491											
CEBPB	1051	broad.mit.edu	37	chr20	48807874	48807885	+	In_Frame_Del	DEL	CCCGCGCCCGCC	CCCGCGCCCGCC	-																															acaccttcgaggcggctccgCccgcgcccgcccccgcgccc																										TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr20:48807874_48807885delCCCGCGCCCGCC	ENST00000303004.3	+	1	499_510	c.304_315delCCCGCGCCCGCC	c.(304-315)del	p.PAPA106del		NM_005194.3	NP_005185.2	P17676	CEBPB_HUMAN	CCAAT/enhancer binding protein (C/EBP), beta	106					acute-phase response|immune response		sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|lung(1)	2			BRCA - Breast invasive adenocarcinoma(9;5.72e-08)|STAD - Stomach adenocarcinoma(23;0.19)			GGCGGCTccgcccgcgcccgcccccgcgcccg	0.745													3	3	---	---	---	---						-	48807885	CCCGCGCCCGCC	-	48807874	7	5	159	1	0	1	0	1	0	0	0	0	3222	739	26	0	306	0	CEBPB	20	48807874	In_Frame_Del	DEL	CCCGCGCCCGCC	TCGA-HC-7075-01A-11D-1961-08		48807874	14217646	34	7492											
SYNGR1	9145	broad.mit.edu	37	chr22	39770548	39770548	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaagccgtcctgtccgacatCggtgtctcgggtgagcccca	7	8	12	14	4	1	1	0	1	1	0	5	2	3	1	5	2	2	0	5	2	1	0			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr22:39770548C>T	ENST00000328933.5	+	2	342	c.327C>T	c.(325-327)atC>atT	p.I109I	SYNGR1_ENST00000406293.3_Silent_p.I109I|SYNGR1_ENST00000318801.4_Silent_p.I109I|SYNGR1_ENST00000381535.4_Silent_p.I110I|SYNGR1_ENST00000216155.7_Silent_p.I109I	NM_004711.4	NP_004702.2			synaptogyrin 1											endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	7	Melanoma(58;0.04)					TGTCCGACATCGGTGTCTCGG	0.632													23	39					0	0	0.003954	0	0	T	39770548	C	T	39770548	2	4	159	1	0	0	0	0	0	0	0	1	15505	874	31	1		1	SYNGR1	22	39770548	Silent	SNP	C	TCGA-HC-7075-01A-11D-1961-08		39770548	11534018	35	7493											
ALG12	79087	broad.mit.edu	37	chr22	50297538	50297538	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagctttgtctgcaggtggAcgttgaaggggggcagttgg	6	10	18	7	1	1	1	0	1	1	0	1	2	1	2	1	6	2	5	1	6	1	3			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chr22:50297538A>G	ENST00000330817.5	-	10	1688	c.1415T>C	c.(1414-1416)gTc>gCc	p.V472A		NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	472					dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		CTGCAGGTGGACGTTGAAGGG	0.657													3	114					0	0	0.004672	0	0	G	50297538	A	G	50297538	3	3	159	1	0	0	0	0	1	0	0	0	511	275	10	3	55	3	ALG12	22	50297538	Missense_Mutation	SNP	A	TCGA-HC-7075-01A-11D-1961-08	10526990	50297538	1007028	36	7494											
CTPS2	56474	broad.mit.edu	37	chrX	16720991	16720991	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatccctttaccaatgcctGagatgaccccacccgtgacc	9	9	7	16	1	0	4	0	4	0	1	1	5	1	4	7	0	2	0	7	0	2	2			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chrX:16720991G>T	ENST00000443824.1	-	2	778	c.35C>A	c.(34-36)tCa>tAa	p.S12*	CTPS2_ENST00000380241.3_Nonsense_Mutation_p.S12*|CTPS2_ENST00000359276.4_Nonsense_Mutation_p.S12*	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN	CTP synthase 2	12					glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					ACCAATGCCTGAGATGACCCC	0.438													5	72					4.096e-09	8.35918e-09	0.001168	1	0	T	16720991	G	T	16720991	4	4	159	1	0	0	0	0	0	1	0	0	4047	1294	45	4	1793	4	CTPS2	23	16720991	Nonsense_Mutation	SNP	G	TCGA-HC-7075-01A-11D-1961-08		16720991	138549569	37	7495											
DACH2	117154	broad.mit.edu	37	chrX	86068206	86068206	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acaagaaaagaaggagctgcGactggagctctatagagaga	17	5	13	6	1	1	4	0	0	1	4	1	8	1	6	0	2	3	2	0	2	6	2			TCGA-HC-7075-01A-11D-1961-08	TCGA-HC-7075-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc422e4-87e2-4fc0-b56b-ddc2d6a92f58	f10cbfd4-a508-4061-a2b0-767db51dc211	g.chrX:86068206G>A	ENST00000373131.1	+	8	1587	c.1424G>A	c.(1423-1425)cGa>cAa	p.R475Q	DACH2_ENST00000510272.1_Missense_Mutation_p.R269Q|DACH2_ENST00000477378.2_3'UTR|DACH2_ENST00000508860.1_Missense_Mutation_p.R321Q|DACH2_ENST00000373125.4_Missense_Mutation_p.R488Q	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	488	DACHbox-C.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						AAGGAGCTGCGACTGGAGCTC	0.413													9	4					0	0	0.008291	0	0	A	86068206	G	A	86068206	3	1	159	1	0	0	0	0	1	0	0	0	4245	1058	37	1	1497	1	DACH2	23	86068206	Missense_Mutation	SNP	G	TCGA-HC-7075-01A-11D-1961-08	69347215	86068206	69202354	38	7496											
KIF17	57576	broad.mit.edu	37	chr1	20991143	20991143	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccttggtgaaagggatgtcGagggactcgaggcggaaggg	9	6	20	6	3	0	1	0	1	0	0	2	6	0	4	1	6	0	0	1	6	2	1	rs115825348	by1000genomes	TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr1:20991143G>A	ENST00000247986.2	-	15	3334	c.3024C>T	c.(3022-3024)ctC>ctT	p.L1008L	KIF17_ENST00000490034.1_5'UTR|KIF17_ENST00000375044.1_Silent_p.L908L|KIF17_ENST00000400463.3_Silent_p.L1007L			Q9P2E2	KIF17_HUMAN	kinesin family member 17	1008					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		AAGGGATGTCGAGGGACTCGA	0.602													11	135					0	0	0.008291	0	0	A	20991143	G	A	20991143	2	1	160	1	0	0	0	0	0	0	0	1	8321	1045	37	1		1	KIF17	1	20991143	Silent	SNP	G	TCGA-HC-7077-01A-11D-1961-08		20991143	228259478	1	7497											
HSPG2	3339	broad.mit.edu	37	chr1	22159980	22159980	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctggcacctgcaggtgggcaAaggctttgaccttgccctgg	6	9	14	12	0	0	1	0	1	0	0	0	1	0	1	3	5	2	4	3	5	1	2			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr1:22159980A>G	ENST00000374695.3	-	79	11037	c.10958T>C	c.(10957-10959)tTt>tCt	p.F3653S		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3653	Ig-like C2-type 22.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CAGGTGGGCAAAGGCTTTGAC	0.617													6	72					0	0	0.001984	0	0	G	22159980	A	G	22159980	3	3	160	1	0	0	0	0	1	0	0	0	7474	14	1	3	2293	3	HSPG2	1	22159980	Missense_Mutation	SNP	A	TCGA-HC-7077-01A-11D-1961-08	1168837	22159980	227090641	2	7498											
RPA2	6118	broad.mit.edu	37	chr1	28240635	28240635	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cccccggggactgcgtgtagCcgccggctcccccgtatgag	4	6	14	17	5	0	1	0	1	0	0	1	2	1	2	6	3	2	3	6	3	2	2			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr1:28240635C>T	ENST00000373912.3	-	2	355	c.56G>A	c.(55-57)gGc>gAc	p.G19D	RPA2_ENST00000313433.7_Missense_Mutation_p.G107D|RPA2_ENST00000373909.3_Missense_Mutation_p.G27D	NM_002946.3	NP_002937.1	P15927	RFA2_HUMAN	replication protein A2, 32kDa	19	Gly/Ser-rich.				cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|regulation of double-strand break repair via homologous recombination|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor A complex|PML body	protein phosphatase binding|single-stranded DNA binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(3)|skin(1)	11		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.62e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00294)|STAD - Stomach adenocarcinoma(196;0.00308)|BRCA - Breast invasive adenocarcinoma(304;0.00613)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCGTGTAGCCGCCGGCTCC	0.537								Direct reversal of damage;Nucleotide excision repair (NER)					5	63					0	0	0.001984	0	0	T	28240635	C	T	28240635	3	4	160	1	0	0	0	0	1	0	0	0	13589	739	26	2	788	2	RPA2	1	28240635	Missense_Mutation	SNP	C	TCGA-HC-7077-01A-11D-1961-08	6080655	28240635	221009986	3	7499											
CSMD2	114784	broad.mit.edu	37	chr1	34102147	34102147	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatcaaaacatgactcccgCgggttttctgggaaaaagaa	14	8	11	8	2	2	2	1	1	1	1	3	4	3	4	1	3	1	1	1	3	5	2			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr1:34102147C>T	ENST00000373381.4	-	30	4958	c.4782G>A	c.(4780-4782)ccG>ccA	p.P1594P	CSMD2_ENST00000373380.1_Silent_p.P467P|CSMD2_ENST00000373388.2_5'UTR	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1554	Sushi 9.					integral to membrane|plasma membrane	protein binding	p.P1554P(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ATGACTCCCGCGGGTTTTCTG	0.562													18	33					0	0	0.00499	0	0	T	34102147	C	T	34102147	2	4	160	1	0	0	0	0	0	0	0	1	3970	755	27	1		1	CSMD2	1	34102147	Silent	SNP	C	TCGA-HC-7077-01A-11D-1961-08	5861512	34102147	215148474	4	7500											
LRRC41	10489	broad.mit.edu	37	chr1	46751117	46751117	+	Frame_Shift_Del	DEL	G	G	-																															gggctgcctctgtggagagtGgaactgtgaatagctccaag																										TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr1:46751117delG	ENST00000343304.6	-	4	1697	c.1412delC	c.(1411-1413)cafs	p.P471fs	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	471										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					TGTGGAGAGTGGAACTGTGAA	0.567													13	77	---	---	---	---						-	46751117	G	-	46751117	7	5	160	1	0	1	0	1	0	0	0	0	9044	1348	47	0	1054	0	LRRC41	1	46751117	Frame_Shift_Del	DEL	G	TCGA-HC-7077-01A-11D-1961-08	12648970	46751117	202499504	5	7501											
TRIM33	51592	broad.mit.edu	37	chr1	114942114	114942114	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagttcttgaagatcaaacGgacatcggccacaaagtcat	15	8	8	10	2	3	2	2	1	1	1	4	3	3	3	1	2	1	1	1	2	3	2			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr1:114942114G>A	ENST00000358465.2	-	18	3168	c.3085C>T	c.(3085-3087)Cgt>Tgt	p.R1029C	TRIM33_ENST00000369543.2_Missense_Mutation_p.R1029C|TRIM33_ENST00000450349.2_Missense_Mutation_p.R661C	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	1029	Bromo.				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAGATCAAACGGACATCGGCC	0.343			T	RET	papillary thyroid								24	135					0	0	0.01892	0	0	A	114942114	G	A	114942114	3	1	160	1	0	0	0	0	1	0	0	0	16568	1116	39	1	310	1	TRIM33	1	114942114	Missense_Mutation	SNP	G	TCGA-HC-7077-01A-11D-1961-08	68190997	114942114	134308507	6	7502											
HMCN1	83872	broad.mit.edu	37	chr1	185987441	185987441	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatcggtgcatggcagcaaaTactgctggagaccacaagaa	14	7	11	9	1	0	2	0	0	0	2	1	3	0	2	1	3	4	4	1	3	5	2			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr1:185987441T>C	ENST00000271588.4	+	34	5656	c.5427T>C	c.(5425-5427)aaT>aaC	p.N1809N	HMCN1_ENST00000367492.2_Silent_p.N1809N	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1809	Ig-like C2-type 15.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGGCAGCAAATACTGCTGGAG	0.393													32	92					0	0	0.015359	0	0	C	185987441	T	C	185987441	2	2	160	1	0	0	0	0	0	0	0	1	7261	1403	49	3		3	HMCN1	1	185987441	Silent	SNP	T	TCGA-HC-7077-01A-11D-1961-08	71045327	185987441	63263180	7	7503											
KCNK2	3776	broad.mit.edu	37	chr1	215368303	215368303	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttttgtctccaggtggatcCgatattgaatatctggactt	8	16	10	7	1	2	1	0	1	2	0	4	4	3	3	2	3	0	1	2	3	3	6	rs149941939	by1000genomes	TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr1:215368303C>T	ENST00000444842.2	+	6	981	c.831C>T	c.(829-831)tcC>tcT	p.S277S	KCNK2_ENST00000391894.2_Silent_p.S262S|KCNK2_ENST00000391895.2_Silent_p.S273S	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	277							outward rectifier potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	CAGGTGGATCCGATATTGAAT	0.373													74	154					0	0	0.01441	0	0	T	215368303	C	T	215368303	2	4	160	1	0	0	0	0	0	0	0	1	8110	639	23	1		1	KCNK2	1	215368303	Silent	SNP	C	TCGA-HC-7077-01A-11D-1961-08	29380862	215368303	33882318	8	7504											
APOB	338	broad.mit.edu	37	chr2	21233706	21233706	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttaggtcagccagagttcGtccagtaagctccacgccaa	11	8	10	12	2	1	1	1	0	0	1	4	1	3	1	4	1	2	4	4	1	3	3	rs147863759		TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr2:21233706G>A	ENST00000233242.1	-	26	6161	c.6034C>T	c.(6034-6036)Cga>Tga	p.R2012*		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2012					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GCCAGAGTTCGTCCAGTAAGC	0.428													39	107					0	0	0.021022	0	0	A	21233706	G	A	21233706	4	1	160	1	0	0	0	0	0	1	0	0	782	1153	40	1	7673	1	APOB	2	21233706	Nonsense_Mutation	SNP	G	TCGA-HC-7077-01A-11D-1961-08		21233706	221965667	9	7505											
NRXN1	9378	broad.mit.edu	37	chr2	50464003	50464003	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggcttctttctgaacagtgCtaaaacctatggccagtctg	9	12	9	11	1	3	1	0	1	3	0	3	1	3	1	2	2	3	2	2	2	4	4			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr2:50464003C>T	ENST00000404971.1	-	19	4929	c.3590G>A	c.(3589-3591)aGc>aAc	p.S1197N	NRXN1_ENST00000405472.3_Missense_Mutation_p.S1149N|NRXN1_ENST00000406316.2_Missense_Mutation_p.S1157N|NRXN1_ENST00000401710.1_Missense_Mutation_p.S175N|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Missense_Mutation_p.S1157N|NRXN1_ENST00000402717.3_Missense_Mutation_p.S1149N|NRXN1_ENST00000401669.2_Missense_Mutation_p.S1157N|NRXN1_ENST00000342183.5_Missense_Mutation_p.S122N	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1157	Laminin G-like 6.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CTGAACAGTGCTAAAACCTAT	0.448													17	47					0	0	0.007413	0	0	T	50464003	C	T	50464003	3	4	160	1	0	0	0	0	1	0	0	0	10713	797	28	2	1077	2	NRXN1	2	50464003	Missense_Mutation	SNP	C	TCGA-HC-7077-01A-11D-1961-08	29230297	50464003	192735370	10	7506											
SP140	11262	broad.mit.edu	37	chr2	231155227	231155227	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaaggctcctttgcttccAgtgacctgtggtggggtgaa	6	14	13	8	0	0	2	0	2	0	0	2	2	2	2	3	4	1	2	3	4	2	4			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr2:231155227A>G	ENST00000392045.3	+	19	1887	c.1773A>G	c.(1771-1773)ccA>ccG	p.P591P	SP140_ENST00000420434.3_Silent_p.P564P|SP140_ENST00000350136.5_Silent_p.P460P|SP140_ENST00000486687.2_Silent_p.P515P|SP140_ENST00000417495.3_Silent_p.P477P|SP140_ENST00000343805.6_Silent_p.P531P	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	591	SAND.				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CTTTGCTTCCAGTGACCTGTG	0.418													4	105					0	0	0.009096	0	0	G	231155227	A	G	231155227	2	3	160	1	0	0	0	0	0	0	0	1	15016	175	7	3		3	SP140	2	231155227	Silent	SNP	A	TCGA-HC-7077-01A-11D-1961-08	180691224	231155227	12044146	11	7507											
GRIP2	80852	broad.mit.edu	37	chr3	14536380	14536380	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtcgaagggctggaggcCtccacggtgggctggcccat	5	7	16	13	2	0	0	0	0	0	0	2	2	1	1	4	6	0	2	4	6	1	0			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr3:14536380C>T	ENST00000273083.3	-	0	3005							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						GGCTGGAGGCCTCCACGGTGG	0.612													12	43					0	0	0.010729	0	0	T	14536380	C	T	14536380	1	4	160	0	1	0	0	0	0	0	0	0	6829	681	24	2		2	GRIP2	3	14536380	RNA	SNP	C	TCGA-HC-7077-01A-11D-1961-08		14536380	183486050	12	7508											
FGD5	152273	broad.mit.edu	37	chr3	14863047	14863047	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgatggctacgtggacatGagcagcttcaacgcctttga	11	10	11	9	2	1	3	1	3	0	0	1	4	1	4	1	2	4	3	1	2	3	3			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr3:14863047G>A	ENST00000285046.5	+	1	2579	c.2469G>A	c.(2467-2469)atG>atA	p.M823I	FGD5_ENST00000543601.1_Missense_Mutation_p.M582I	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	823					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						ACGTGGACATGAGCAGCTTCA	0.532													8	65					0	0	0.00308	0	0	A	14863047	G	A	14863047	3	1	160	1	0	0	0	0	1	0	0	0	5869	1290	45	2	2471	2	FGD5	3	14863047	Missense_Mutation	SNP	G	TCGA-HC-7077-01A-11D-1961-08	326667	14863047	183159383	13	7509											
C3orf38	285237	broad.mit.edu	37	chr3	88205229	88205229	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtcgcctaggagaagaatTctgtcattggttctttggac	8	14	11	8	2	3	2	1	0	2	2	5	4	3	3	1	3	0	1	1	3	3	5			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr3:88205229T>C	ENST00000318887.3	+	3	744	c.434T>C	c.(433-435)tTc>tCc	p.F145S	C3orf38_ENST00000486971.1_Intron	NM_173824.3	NP_776185.2	Q5JPI3	CC038_HUMAN	chromosome 3 open reading frame 38	145					apoptosis					breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		GGAGAAGAATTCTGTCATTGG	0.368													17	24					0	0	0.00499	0	0	C	88205229	T	C	88205229	3	2	160	1	0	0	0	0	1	0	0	0	2242	1783	62	3	444	3	C3orf38	3	88205229	Missense_Mutation	SNP	T	TCGA-HC-7077-01A-11D-1961-08	73342182	88205229	109817201	14	7510											
PARP9	83666	broad.mit.edu	37	chr3	122259686	122259686	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttctcttttctcctctctGgttgactgggggactgaaat	5	18	9	9	0	3	2	0	2	3	0	6	3	3	3	1	3	0	1	1	3	1	5			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr3:122259686G>C	ENST00000462315.1	-	8	1691	c.1398C>G	c.(1396-1398)acC>acG	p.T466T	PARP9_ENST00000477522.2_Silent_p.T466T|PARP9_ENST00000471785.1_Silent_p.T466T|PARP9_ENST00000492382.1_Silent_p.T46T|PARP9_ENST00000360356.2_Silent_p.T501T	NM_001146106.1	NP_001139578.1	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	501	Macro 2.				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		TCTCCTCTCTGGTTGACTGGG	0.448													17	161					0	0	0.012319	0	0	C	122259686	G	C	122259686	2	2	160	1	0	0	0	0	0	0	0	1	11513	1335	47	4		4	PARP9	3	122259686	Silent	SNP	G	TCGA-HC-7077-01A-11D-1961-08	34054457	122259686	75762744	15	7511											
RBM22	55696	broad.mit.edu	37	chr5	150073641	150073641	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aatagtttaattctcaccttCcccatttcacattcagtctg	10	16	3	12	0	4	0	3	0	2	0	6	0	5	0	3	0	0	1	3	0	3	7			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr5:150073641C>T	ENST00000199814.4	-	8	1029	c.908G>A	c.(907-909)gGa>gAa	p.G303E	RBM22_ENST00000540000.1_Missense_Mutation_p.G254E|RBM22_ENST00000447771.2_Missense_Mutation_p.G254E	NM_018047.2	NP_060517.1	Q9NW64	RBM22_HUMAN	RNA binding motif protein 22	303	RRM.				protein import into nucleus, translocation	catalytic step 2 spliceosome|cytoplasm	calcium-dependent protein binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCTCACCTTCCCCATTTCAC	0.388													11	71					0	0	0.010729	0	0	T	150073641	C	T	150073641	3	4	160	1	0	0	0	0	1	0	0	0	13174	855	30	2	370	2	RBM22	5	150073641	Missense_Mutation	SNP	C	TCGA-HC-7077-01A-11D-1961-08		150073641	30841619	16	7512											
GABRB2	0	broad.mit.edu	37	chr5	160886666	160886666	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtgccatcaggatgcaggCgaatcatgcggttcttaaca	10	9	12	10	3	3	0	2	0	1	0	3	2	3	1	1	4	4	2	1	4	2	2			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr5:160886666C>T	ENST00000274547.2	-	5	639	c.422G>A	c.(421-423)cGc>cAc	p.R141H	GABRB2_ENST00000517901.1_Missense_Mutation_p.R78H|GABRB2_ENST00000353437.6_Missense_Mutation_p.R141H|GABRB2_ENST00000520240.1_Missense_Mutation_p.R141H|GABRB2_ENST00000517547.1_Intron|GABRB2_ENST00000393959.1_Missense_Mutation_p.R141H	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	141					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AGGATGCAGGCGAATCATGCG	0.443													14	59					0	0	0.024245	0	0	T	160886666	C	T	160886666	3	4	160	1	0	0	0	0	1	0	0	0	6202	768	27	1	1144	1	GABRB2	5	160886666	Missense_Mutation	SNP	C	TCGA-HC-7077-01A-11D-1961-08	10813025	160886666	20028594	17	7513											
TCP11	6954	broad.mit.edu	37	chr6	35088704	35088704	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actaggctgcttattgaggaGttcctggaatttagcccgtt	8	14	11	8	1	0	1	0	1	0	0	1	3	1	3	2	3	2	4	2	3	4	7			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr6:35088704G>A	ENST00000311875.5	-	6	1153	c.736C>T	c.(736-738)Ctc>Ttc	p.L246F	TCP11_ENST00000373974.4_Missense_Mutation_p.L200F|TCP11_ENST00000412155.2_Missense_Mutation_p.L195F|TCP11_ENST00000373979.2_Missense_Mutation_p.L171F|TCP11_ENST00000244645.3_Missense_Mutation_p.L171F|TCP11_ENST00000418521.2_Missense_Mutation_p.L170F|TCP11_ENST00000512012.1_Missense_Mutation_p.L233F|TCP11_ENST00000444780.2_Missense_Mutation_p.L241F			Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific	233					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						TTATTGAGGAGTTCCTGGAAT	0.448													12	582					0	0	0.016723	0	0	A	35088704	G	A	35088704	3	1	160	1	0	0	0	0	1	0	0	0	15772	1029	36	2	834	2	TCP11	6	35088704	Missense_Mutation	SNP	G	TCGA-HC-7077-01A-11D-1961-08		35088704	136026363	18	7514											
PNPLA1	285848	broad.mit.edu	37	chr6	36270248	36270248	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggccaagaacagccccaaggTatggacccttctggcttgtt	9	9	11	12	0	1	1	0	0	1	1	1	2	1	2	4	4	2	3	4	4	4	4			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr6:36270248T>C	ENST00000394571.2	+	6	1384		c.e6+2		PNPLA1_ENST00000388715.3_Splice_Site|PNPLA1_ENST00000312917.5_Splice_Site	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1						lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						AGCCCCAAGGTATGGACCCTT	0.567											OREG0017382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	50	137					0	0	0.01441	0	0	C	36270248	T	C	36270248	5	2	160	1	0	0	0	0	0	0	1	0	12212	1652	57	3	1435	3	PNPLA1	6	36270248	Splice_Site	SNP	T	TCGA-HC-7077-01A-11D-1961-08	1181544	36270248	134844819	19	7515											
IMPG1	3617	broad.mit.edu	37	chr6	76660411	76660411	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcccttgggggcaatggtCatagaactagtggtgatata	10	10	14	7	1	1	2	1	1	0	1	1	2	1	2	1	5	1	1	1	5	6	5			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr6:76660411C>A	ENST00000369950.3	-	13	1881	c.1692G>T	c.(1690-1692)atG>atT	p.M564I	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	564					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				GGGCAATGGTCATAGAACTAG	0.493													5	92					0.00116845	0.00168951	0.021553	1	0	A	76660411	C	A	76660411	3	1	160	1	0	0	0	0	1	0	0	0	7772	826	29	4	721	4	IMPG1	6	76660411	Missense_Mutation	SNP	C	TCGA-HC-7077-01A-11D-1961-08	40390163	76660411	94454656	20	7516											
LMTK2	22853	broad.mit.edu	37	chr7	97822262	97822262	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagaagaaacgccccgtcggGtacccccagactcactccca	11	4	8	18	3	1	3	1	0	0	3	3	3	2	3	5	1	2	1	5	1	3	1			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr7:97822262G>A	ENST00000297293.5	+	11	2778	c.2485G>A	c.(2485-2487)Gta>Ata	p.V829I		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	829					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					GCCCCGTCGGGTACCCCCAGA	0.557													42	82					0	0	0.009718	0	0	A	97822262	G	A	97822262	3	1	160	1	0	0	0	0	1	0	0	0	8900	1261	44	2	2527	2	LMTK2	7	97822262	Missense_Mutation	SNP	G	TCGA-HC-7077-01A-11D-1961-08		97822262	61316401	21	7517											
SHH	6469	broad.mit.edu	37	chr7	155599019	155599019	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccgagcagtggatatgtgccTtggactcgtagtacacccag	9	9	12	11	2	0	0	0	0	0	0	1	3	0	2	3	2	3	3	3	2	3	4			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr7:155599019T>C	ENST00000297261.2	-	2	683	c.533A>G	c.(532-534)aAg>aGg	p.K178R		NM_000193.2	NP_000184.1	Q15465	SHH_HUMAN	sonic hedgehog	178			Missing (in HPE3).		androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding			central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GATATGTGCCTTGGACTCGTA	0.632													17	101					0	0	0.008871	0	0	C	155599019	T	C	155599019	3	2	160	1	0	0	0	0	1	0	0	0	14334	1609	56	3	863	3	SHH	7	155599019	Missense_Mutation	SNP	T	TCGA-HC-7077-01A-11D-1961-08	57776757	155599019	3539644	22	7518											
DCAF4L2	138009	broad.mit.edu	37	chr8	88885128	88885128	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaatgtcgttctccgaggCggggtatggggagggtatgg	6	9	21	5	3	1	0	0	0	1	0	3	3	1	2	1	8	0	3	1	8	3	3			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr8:88885128C>T	ENST00000319675.3	-	1	1168	c.1072G>A	c.(1072-1074)Gcc>Acc	p.A358T		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	358										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TTCTCCGAGGCGGGGTATGGG	0.622													35	67					0	0	0.015359	0	0	T	88885128	C	T	88885128	3	4	160	1	0	0	0	0	1	0	0	0	4296	768	27	1	119	1	DCAF4L2	8	88885128	Missense_Mutation	SNP	C	TCGA-HC-7077-01A-11D-1961-08		88885128	57478894	23	7519											
PKHD1L1	93035	broad.mit.edu	37	chr8	110477192	110477192	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttaaaaatgccaaaatagtcGgccatcttgatgaactggga	15	10	9	7	1	1	2	0	2	1	0	2	3	1	3	2	2	2	0	2	2	7	3			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr8:110477192G>A	ENST00000378402.5	+	49	8235	c.8131G>A	c.(8131-8133)Ggc>Agc	p.G2711S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2711					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CAAAATAGTCGGCCATCTTGA	0.463										HNSCC(38;0.096)			23	169					0	0	0.01892	0	0	A	110477192	G	A	110477192	3	1	160	1	0	0	0	0	1	0	0	0	12020	1116	39	1	8325	1	PKHD1L1	8	110477192	Missense_Mutation	SNP	G	TCGA-HC-7077-01A-11D-1961-08	21592064	110477192	35886830	24	7520											
PLEC	5339	broad.mit.edu	37	chr8	145003714	145003714	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagctcggagatgcagcgCtggcagcgagactcttcctg	7	9	14	11	3	1	3	0	1	1	2	3	5	2	3	1	2	4	4	1	2	0	2			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr8:145003714C>A	ENST00000322810.4	-	24	3529	c.3360G>T	c.(3358-3360)caG>caT	p.Q1120H	PLEC_ENST00000345136.3_Missense_Mutation_p.Q983H|PLEC_ENST00000354958.2_Missense_Mutation_p.Q961H|PLEC_ENST00000398774.2_Missense_Mutation_p.Q951H|PLEC_ENST00000354589.3_Missense_Mutation_p.Q983H|PLEC_ENST00000356346.3_Missense_Mutation_p.Q969H|PLEC_ENST00000527096.1_Missense_Mutation_p.Q1006H|PLEC_ENST00000436759.2_Missense_Mutation_p.Q1010H|PLEC_ENST00000357649.2_Missense_Mutation_p.Q987H	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1120	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AGATGCAGCGCTGGCAGCGAG	0.682													9	55					6.40141e-05	9.38289e-05	0.010729	1	0	A	145003714	C	A	145003714	3	1	160	1	0	0	0	0	1	0	0	0	12100	796	28	4	10730	4	PLEC	8	145003714	Missense_Mutation	SNP	C	TCGA-HC-7077-01A-11D-1961-08	34526522	145003714	1360308	25	7521											
TRPM3	80036	broad.mit.edu	37	chr9	73152085	73152085	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggtgttcccttcctggCtgttgaagctgctctgacgg	5	13	13	10	1	1	3	0	3	1	0	3	3	3	3	2	3	2	5	2	3	2	3			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr9:73152085C>T	ENST00000377110.2	-	25	4151	c.3908G>A	c.(3907-3909)aGc>aAc	p.S1303N	TRPM3_ENST00000357533.2_Missense_Mutation_p.S1307N|TRPM3_ENST00000423814.3_Missense_Mutation_p.S1330N|TRPM3_ENST00000377106.1_Missense_Mutation_p.S1175N|TRPM3_ENST00000377105.1_Missense_Mutation_p.S1162N|TRPM3_ENST00000408909.2_Missense_Mutation_p.S1162N|TRPM3_ENST00000396280.5_Missense_Mutation_p.S1152N|TRPM3_ENST00000377111.2_Missense_Mutation_p.S1303N|TRPM3_ENST00000396285.1_Missense_Mutation_p.S1162N|TRPM3_ENST00000358082.3_Missense_Mutation_p.S1165N|TRPM3_ENST00000360823.2_Missense_Mutation_p.S1165N|TRPM3_ENST00000396292.4_Missense_Mutation_p.S1175N	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1328						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CCCTTCCTGGCTGTTGAAGCT	0.572													14	167					0	0	0.020292	0	0	T	73152085	C	T	73152085	3	4	160	1	0	0	0	0	1	0	0	0	16648	797	28	2	1219	2	TRPM3	9	73152085	Missense_Mutation	SNP	C	TCGA-HC-7077-01A-11D-1961-08		73152085	68061346	26	7522											
TGFBR1	7046	broad.mit.edu	37	chr9	101904860	101904860	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggttggtgtcagattatcAtgagcatggatccctttttg	7	16	11	7	0	2	2	2	1	0	1	3	3	3	3	1	3	1	2	1	3	1	4			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr9:101904860A>G	ENST00000374994.4	+	5	965	c.848A>G	c.(847-849)cAt>cGt	p.H283R	TGFBR1_ENST00000550253.1_Missense_Mutation_p.H214R|TGFBR1_ENST00000374990.2_Missense_Mutation_p.H206R|TGFBR1_ENST00000552516.1_Missense_Mutation_p.H287R	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	283	Protein kinase.				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				TCAGATTATCATGAGCATGGA	0.413													16	122					0	0	0.00499	0	0	G	101904860	A	G	101904860	3	3	160	1	0	0	0	0	1	0	0	0	15881	217	8	3	866	3	TGFBR1	9	101904860	Missense_Mutation	SNP	A	TCGA-HC-7077-01A-11D-1961-08	28752775	101904860	39308571	27	7523											
LARP4B	23185	broad.mit.edu	37	chr10	888969	888969	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacatactggtcactatcCatctgtgatataagatacat	13	12	7	9	0	2	2	1	1	1	1	3	2	3	2	1	2	2	1	1	2	5	5			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr10:888969C>A	ENST00000316157.3	-	6	589	c.549G>T	c.(547-549)atG>atT	p.M183I		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	183	HTH La-type RNA-binding.						nucleotide binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						GGTCACTATCCATCTGTGATA	0.403													9	30					0.00448238	0.00639486	0.004482	1	0	A	888969	C	A	888969	3	1	160	1	0	0	0	0	1	0	0	0	8670	594	21	4	1715	4	LARP4B	10	888969	Missense_Mutation	SNP	C	TCGA-HC-7077-01A-11D-1961-08		888969	134645778	28	7524											
CDHR1	92211	broad.mit.edu	37	chr10	85972941	85972941	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcgacatcaattcccacaCgggggagatctggctcaaga	11	8	11	11	2	3	2	2	0	1	2	5	4	4	2	1	3	0	2	1	3	2	2	rs34744664		TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr10:85972941C>T	ENST00000372117.3	+	16	1980	c.1877C>T	c.(1876-1878)aCg>aTg	p.T626M	CDHR1_ENST00000332904.3_Missense_Mutation_p.T626M|CDHR1_ENST00000440770.2_Missense_Mutation_p.T330M	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	626	Cadherin 6.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						AATTCCCACACGGGGGAGATC	0.572													10	99					0	0	0.006214	0	0	T	85972941	C	T	85972941	3	4	160	1	0	0	0	0	1	0	0	0	3140	536	19	1	1939	1	CDHR1	10	85972941	Missense_Mutation	SNP	C	TCGA-HC-7077-01A-11D-1961-08	85083972	85972941	49561806	29	7525											
HECTD2	143279	broad.mit.edu	37	chr10	93253266	93253266	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aattccgattggttggaattGtatcctttaaactttccact	10	17	6	8	1	0	0	0	0	0	0	3	2	3	1	3	2	1	2	3	2	5	8			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr10:93253266G>A	ENST00000446394.1	+	15	1633		c.e15+1		HECTD2_ENST00000536715.1_Splice_Site|HECTD2_ENST00000298068.5_Splice_Site|HECTD2_ENST00000371667.1_Splice_Site			Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						GGTTGGAATTGTATCCTTTAA	0.308													15	30					0	0	0.028581	0	0	A	93253266	G	A	93253266	5	1	160	1	0	0	0	0	0	0	1	0	7081	1391	48	2	1600	2	HECTD2	10	93253266	Splice_Site	SNP	G	TCGA-HC-7077-01A-11D-1961-08	7280325	93253266	42281481	30	7526											
LRRC56	115399	broad.mit.edu	37	chr11	551945	551945	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaccccaccaagggcctgcGggagcgtaggcaccagtgcc	9	3	14	15	2	0	0	0	0	0	0	0	2	0	1	6	3	4	2	6	3	3	1			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr11:551945G>A	ENST00000270115.7	+	11	1516	c.1016G>A	c.(1015-1017)cGg>cAg	p.R339Q		NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN	leucine rich repeat containing 56	339										kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AAGGGCCTGCGGGAGCGTAGG	0.687													5	35					0	0	0.014758	0	0	A	551945	G	A	551945	3	1	160	1	0	0	0	0	1	0	0	0	9057	1116	39	1	1046	1	LRRC56	11	551945	Missense_Mutation	SNP	G	TCGA-HC-7077-01A-11D-1961-08		551945	134454571	31	7527											
KCNQ1	3784	broad.mit.edu	37	chr11	2549250	2549250	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggggactctcttctggatggTacgtagcatctgagggcatg	7	11	15	8	1	3	1	0	1	3	0	4	3	3	3	0	5	2	4	0	5	2	3			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr11:2549250T>C	ENST00000155840.5	+	2	585		c.e2+2		KCNQ1_ENST00000335475.5_Splice_Site	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1						blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	TTCTGGATGGTACGTAGCATC	0.617													30	77					0	0	0.013726	0	0	C	2549250	T	C	2549250	5	2	160	1	0	0	0	0	0	0	1	0	8126	1652	57	3	494	3	KCNQ1	11	2549250	Splice_Site	SNP	T	TCGA-HC-7077-01A-11D-1961-08	1997305	2549250	132457266	32	7528											
ACCSL	390110	broad.mit.edu	37	chr11	44080233	44080233	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctcatctttgcagatgagctCccccggctaaaattgggtga	9	11	10	11	1	2	3	1	2	1	1	3	3	3	3	2	2	2	3	2	2	2	3			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr11:44080233C>T	ENST00000378832.1	+	13	1664	c.1608C>T	c.(1606-1608)ctC>ctT	p.L536L		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	536							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						CAGATGAGCTCCCCCGGCTAA	0.493													22	54					0	0	0.014323	0	0	T	44080233	C	T	44080233	2	4	160	1	0	0	0	0	0	0	0	1	134	842	30	2		2	ACCSL	11	44080233	Silent	SNP	C	TCGA-HC-7077-01A-11D-1961-08	41530983	44080233	90926283	33	7529											
SF1	7536	broad.mit.edu	37	chr11	64536550	64536551	+	Frame_Shift_Del	DEL	TG	TG	-																															cctccacacttggtacacacTgtggtgttggtaatgctgcg																										TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr11:64536550_64536551delTG	ENST00000377390.3	-	8	1167_1168	c.830_831delCA	c.(829-831)afs	p.T277fs	SF1_ENST00000433274.2_Frame_Shift_Del_p.T251fs|SF1_ENST00000377394.3_Frame_Shift_Del_p.T277fs|SF1_ENST00000377387.1_Frame_Shift_Del_p.T402fs|SF1_ENST00000422298.2_Frame_Shift_Del_p.T162fs|SF1_ENST00000227503.9_Frame_Shift_Del_p.T277fs|SF1_ENST00000334944.5_Frame_Shift_Del_p.T277fs|SF1_ENST00000489544.1_5'UTR	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	277					nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						TGGTACACACTGTGGTGTTGGT	0.505													82	330	---	---	---	---						-	64536551	TG	-	64536550	7	5	160	1	0	1	0	1	0	0	0	0	14199	1567	55	0	1250	0	SF1	11	64536550	Frame_Shift_Del	DEL	TG	TCGA-HC-7077-01A-11D-1961-08	20456317	64536550	70469966	34	7530											
SESN3	143686	broad.mit.edu	37	chr11	94910979	94910979	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccatagtgttatatgtgagaTtgtagaccatccgaaacttt	12	14	8	7	1	0	2	0	1	0	2	1	4	1	2	3	0	1	2	3	0	5	6			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr11:94910979T>C	ENST00000536441.1	-	8	1487	c.1151A>G	c.(1150-1152)aAt>aGt	p.N384S	RP11-712B9.2_ENST00000534864.1_RNA|RP11-712B9.2_ENST00000534891.1_RNA|SESN3_ENST00000278499.2_Missense_Mutation_p.N245S	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN	sestrin 3	384					cell cycle arrest	nucleus				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		ATATGTGAGATTGTAGACCAT	0.403													4	64					0	0	0.009096	0	0	C	94910979	T	C	94910979	3	2	160	1	0	0	0	0	1	0	0	0	14180	1493	52	3	339	3	SESN3	11	94910979	Missense_Mutation	SNP	T	TCGA-HC-7077-01A-11D-1961-08	30374429	94910979	40095537	35	7531											
VWF	7450	broad.mit.edu	37	chr12	6101119	6101119	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacaggagctcacgttgcCatcacagtgccggggacagc	9	5	12	15	2	2	0	2	0	0	0	2	2	2	2	3	3	4	2	3	3	0	1			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr12:6101119C>T	ENST00000261405.5	-	38	6918	c.6664G>A	c.(6664-6666)Ggc>Agc	p.G2222S		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	2222	E2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CTCACGTTGCCATCACAGTGC	0.567													12	44					0	0	0.010729	0	0	T	6101119	C	T	6101119	3	4	160	1	0	0	0	0	1	0	0	0	17306	594	21	2	1837	2	VWF	12	6101119	Missense_Mutation	SNP	C	TCGA-HC-7077-01A-11D-1961-08		6101119	127750776	36	7532											
GRIN2B	2904	broad.mit.edu	37	chr12	13716716	13716716	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccgctccttgtagatgtcGgtcaggtctacgtgctccca	5	12	10	14	3	2	1	1	0	1	1	6	1	5	1	3	2	2	3	3	2	2	3			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr12:13716716G>A	ENST00000279593.3	-	13	3665	c.3456C>T	c.(3454-3456)acC>acT	p.T1152T		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1152					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGTAGATGTCGGTCAGGTCTA	0.577													24	40					0	0	0.014323	0	0	A	13716716	G	A	13716716	2	1	160	1	0	0	0	0	0	0	0	1	6821	1103	39	1		1	GRIN2B	12	13716716	Silent	SNP	G	TCGA-HC-7077-01A-11D-1961-08	7615597	13716716	120135179	37	7533											
KIF21A	55605	broad.mit.edu	37	chr12	39727024	39727024	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttactgtacctcttcagttTtgcgacgtagaaccacttct	8	15	6	12	2	3	1	1	0	2	1	3	2	3	1	2	0	4	3	2	0	4	7			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr12:39727024T>C	ENST00000395670.3	-	18	2896	c.2477A>G	c.(2476-2478)aAa>aGa	p.K826R	KIF21A_ENST00000361418.5_Missense_Mutation_p.K826R|KIF21A_ENST00000544797.2_Missense_Mutation_p.K813R|KIF21A_ENST00000541463.2_Intron|KIF21A_ENST00000361961.3_Missense_Mutation_p.K813R			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	826				K -> Q (in Ref. 2; AAP97680).	microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CTCTTCAGTTTTGCGACGTAG	0.343													74	177					0	0	0.01441	0	0	C	39727024	T	C	39727024	3	2	160	1	0	0	0	0	1	0	0	0	8330	1841	64	3	2631	3	KIF21A	12	39727024	Missense_Mutation	SNP	T	TCGA-HC-7077-01A-11D-1961-08	26010308	39727024	94124871	38	7534											
LRRK2	120892	broad.mit.edu	37	chr12	40677930	40677930	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacttctaatttaaggaaacAaacaagtaagtaacaaggag	20	8	8	5	0	1	0	0	0	1	0	1	3	1	2	0	2	3	2	0	2	8	6			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr12:40677930A>G	ENST00000298910.7	+	19	2553	c.2495A>G	c.(2494-2496)cAa>cGa	p.Q832R	LRRK2_ENST00000343742.2_Missense_Mutation_p.Q832R	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	832					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTAAGGAAACAAACAAGTAAG	0.313													12	52					0	0	0.010729	0	0	G	40677930	A	G	40677930	3	3	160	1	0	0	0	0	1	0	0	0	9078	130	5	3	2569	3	LRRK2	12	40677930	Missense_Mutation	SNP	A	TCGA-HC-7077-01A-11D-1961-08	950906	40677930	93173965	39	7535											
BEST3	144453	broad.mit.edu	37	chr12	70072612	70072612	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaccagatgaatggaacccaAtatttcagatgaggagactt	16	9	9	7	0	1	5	1	2	0	3	1	7	1	6	2	2	2	0	2	2	5	3			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr12:70072612A>G	ENST00000330891.5	-	5	769	c.543T>C	c.(541-543)taT>taC	p.Y181Y	BEST3_ENST00000331471.4_Silent_p.Y181Y|BEST3_ENST00000488961.1_Silent_p.Y19Y|BEST3_ENST00000476098.1_Silent_p.Y19Y|BEST3_ENST00000553096.1_Silent_p.Y75Y	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	181						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			ATGGAACCCAATATTTCAGAT	0.358													6	50					0	0	0.001984	0	0	G	70072612	A	G	70072612	2	3	160	1	0	0	0	0	0	0	0	1	1404	108	4	3		3	BEST3	12	70072612	Silent	SNP	A	TCGA-HC-7077-01A-11D-1961-08	29394682	70072612	63779283	40	7536											
KDM2B	84678	broad.mit.edu	37	chr12	121880538	121880538	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggtcgctctccctggtcttGgggggcgcctcgggcagttc	1	11	16	13	3	2	0	0	0	2	0	6	0	2	0	2	6	0	3	2	6	0	2			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr12:121880538G>A	ENST00000377069.4	-	18	2905	c.2499C>T	c.(2497-2499)ccC>ccT	p.P833P	KDM2B_ENST00000377071.4_Silent_p.P902P|KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000542973.1_Silent_p.P270P	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	902					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CCCTGGTCTTGGGGGGCGCCT	0.697													4	22					0	0	0.009096	0	0	A	121880538	G	A	121880538	2	1	160	1	0	0	0	0	0	0	0	1	8169	1335	47	2		2	KDM2B	12	121880538	Silent	SNP	G	TCGA-HC-7077-01A-11D-1961-08	51807926	121880538	11971357	41	7537											
DIAPH3	81624	broad.mit.edu	37	chr13	60565296	60565296	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacaacttcctcttaccttaTaaaataatcatttcgaatca	15	15	1	10	1	3	0	2	0	1	0	5	1	4	0	2	0	3	0	2	0	8	7			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr13:60565296T>C	ENST00000400324.4	-	12	1577	c.1357A>G	c.(1357-1359)Ata>Gta	p.I453V	DIAPH3_ENST00000400330.1_Missense_Mutation_p.I453V|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400319.1_Missense_Mutation_p.I383V|DIAPH3_ENST00000377908.2_Missense_Mutation_p.I442V|DIAPH3_ENST00000267215.4_Missense_Mutation_p.I453V|DIAPH3_ENST00000400320.1_Missense_Mutation_p.I407V	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	453	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		TCTTACCTTATAAAATAATCA	0.294													10	28					0	0	0.006214	0	0	C	60565296	T	C	60565296	3	2	160	1	0	0	0	0	1	0	0	0	4548	1406	49	3	2312	3	DIAPH3	13	60565296	Missense_Mutation	SNP	T	TCGA-HC-7077-01A-11D-1961-08		60565296	54604582	42	7538											
DACH1	1602	broad.mit.edu	37	chr13	72440704	72440705	+	In_Frame_Ins	INS	-	-	GCC																															cgccggtagaggtgactgtgINSgccgccgccgccgccgccga																										TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr13:72440704_72440705insGCC	ENST00000305425.4	-	1	625_626	c.203_204insGGC	c.(202-204)gac>gGGCac	p.68_68D>GH	DACH1_ENST00000359684.2_In_Frame_Ins_p.68_68D>GH|DACH1_ENST00000354591.4_In_Frame_Ins_p.68_68D>GH|DACH1_ENST00000313174.7_In_Frame_Ins_p.68_68D>GH	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	68	Poly-Ala.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		AGGTGACTGTGGCCGCCGCCGC	0.797													3	4	---	---	---	---						GCC	72440705	-	GCC	72440704	7	5	160	1	0	1	1	0	0	0	0	0	4244	1335	47	0	1966	0	DACH1	13	72440704	In_Frame_Ins	INS	-	TCGA-HC-7077-01A-11D-1961-08	11875408	72440704	42729174	43	7539											
KIAA0247	9766	broad.mit.edu	37	chr14	70125381	70125381	+	Frame_Shift_Del	DEL	C	C	-																															tccgtgggacatggagtgttCcttccgctagtgatcctttg																										TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr14:70125381delC	ENST00000342745.4	+	2	385	c.72delC	c.(70-72)ttfs	p.F24fs		NM_014734.3	NP_055549.1	Q92537	K0247_HUMAN	KIAA0247	24						integral to membrane				endometrium(1)|kidney(1)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)	10				all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196)		ATGGAGTGTTCCTTCCGCTAG	0.493													23	122	---	---	---	---						-	70125381	C	-	70125381	7	5	160	1	0	1	0	1	0	0	0	0	8207	854	30	0	74	0	KIAA0247	14	70125381	Frame_Shift_Del	DEL	C	TCGA-HC-7077-01A-11D-1961-08		70125381	37224159	44	7540											
SLC12A6	9990	broad.mit.edu	37	chr15	34553159	34553159	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaatttttatcaaaatattCatctccttcttcataattgg	13	18	2	8	0	5	0	3	0	2	0	6	0	5	0	1	1	0	0	1	1	6	9			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr15:34553159C>T	ENST00000354181.3	-	4	871	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	SLC12A6_ENST00000451844.2_5'UTR|SLC12A6_ENST00000560611.1_Missense_Mutation_p.E127K|SLC12A6_ENST00000560164.1_5'UTR|SLC12A6_ENST00000458406.2_Missense_Mutation_p.E68K|SLC12A6_ENST00000397702.2_Missense_Mutation_p.E68K|SLC12A6_ENST00000397707.2_Missense_Mutation_p.E112K|SLC12A6_ENST00000290209.5_Missense_Mutation_p.E76K|SLC12A6_ENST00000558667.1_Missense_Mutation_p.E127K|SLC12A6_ENST00000558589.1_Missense_Mutation_p.E118K			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	127					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity	p.E118K(1)|p.E76K(1)		central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	TCAAAATATTCATCTCCTTCT	0.333													8	64					0	0	0.006214	0	0	T	34553159	C	T	34553159	3	4	160	1	0	0	0	0	1	0	0	0	14442	835	29	2	3165	2	SLC12A6	15	34553159	Missense_Mutation	SNP	C	TCGA-HC-7077-01A-11D-1961-08		34553159	67978233	45	7541											
FBN1	2200	broad.mit.edu	37	chr15	48707834	48707834	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgcgcagagccacattcAttgatgtcttggcatcctcc	7	11	9	14	1	2	2	1	1	1	1	4	2	4	2	4	1	2	2	4	1	0	3	rs143055643	byFrequency	TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr15:48707834A>G	ENST00000316623.5	-	64	8405	c.7950T>C	c.(7948-7950)aaT>aaC	p.N2650N	FBN1_ENST00000561429.1_5'UTR	NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	2650	EGF-like 47; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AGCCACATTCATTGATGTCTT	0.582													47	110					0	0	0.01441	0	0	G	48707834	A	G	48707834	2	3	160	1	0	0	0	0	0	0	0	1	5735	214	8	3		3	FBN1	15	48707834	Silent	SNP	A	TCGA-HC-7077-01A-11D-1961-08	14154675	48707834	53823558	46	7542											
CYP19A1	0	broad.mit.edu	37	chr15	51507272	51507272	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgataaattcttaccaataAcagtctggatttcctttatt	12	18	4	7	0	2	1	0	1	2	0	3	2	3	2	2	1	2	0	2	1	6	9			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr15:51507272A>G	ENST00000396402.1	-	8	1169	c.1016T>C	c.(1015-1017)gTt>gCt	p.V339A	CYP19A1_ENST00000396404.4_Missense_Mutation_p.V339A|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000260433.2_Missense_Mutation_p.V339A|CYP19A1_ENST00000559878.1_Missense_Mutation_p.V339A	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	339					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	CTTACCAATAACAGTCTGGAT	0.323													10	23					0	0	0.008291	0	0	G	51507272	A	G	51507272	3	3	160	1	0	0	0	0	1	0	0	0	4171	43	2	3	507	3	CYP19A1	15	51507272	Missense_Mutation	SNP	A	TCGA-HC-7077-01A-11D-1961-08	2799438	51507272	51024120	47	7543											
MAZ	4150	broad.mit.edu	37	chr16	29821006	29821006	+	Frame_Shift_Del	DEL	G	G	-																															ggccacatgcagacccatctGgggggggccgccccccctgt																										TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr16:29821006delG	ENST00000219782.6	+	5	1531	c.1425delG	c.(1423-1425)ctfs	p.L475fs	MAZ_ENST00000568544.1_Intron|AC009133.14_ENST00000563806.1_RNA|MAZ_ENST00000562337.1_Intron|MAZ_ENST00000545521.1_Intron|MAZ_ENST00000563402.1_Intron|MAZ_ENST00000568282.1_Frame_Shift_Del_p.L76fs|MAZ_ENST00000322945.6_Intron|AC009133.14_ENST00000569981.1_RNA|MAZ_ENST00000566906.2_Intron|AC009133.20_ENST00000569039.1_RNA	NM_001042539.1	NP_001036004.1	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)	213					regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter	nucleus	DNA binding|protein binding|RNA binding|zinc ion binding	p.A478fs*>16(1)		endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						AGACCCATCTGGGGGGGGCCG	0.741													7	13	---	---	---	---						-	29821006	G	-	29821006	7	5	160	1	0	1	0	1	0	0	0	0	9390	1335	47	0	1443	0	MAZ	16	29821006	Frame_Shift_Del	DEL	G	TCGA-HC-7077-01A-11D-1961-08		29821006	60533747	48	7544											
CDH5	1003	broad.mit.edu	37	chr16	66431906	66431906	+	Frame_Shift_Del	DEL	C	C	-																															aacccccacaggaaaagaatCcattgtgcaagtccacattg																										TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr16:66431906delC	ENST00000341529.3	+	9	1530	c.1382delC	c.(1381-1383)tcfs	p.S461fs	CDH5_ENST00000539168.1_5'UTR	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	461	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		GGAAAAGAATCCATTGTGCAA	0.542													45	131	---	---	---	---						-	66431906	C	-	66431906	7	5	160	1	0	1	0	1	0	0	0	0	3135	855	30	0	1412	0	CDH5	16	66431906	Frame_Shift_Del	DEL	C	TCGA-HC-7077-01A-11D-1961-08	36610900	66431906	23922847	49	7545											
DPEP1	1800	broad.mit.edu	37	chr16	89703634	89703634	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggtgaaggagctgaaccGtctgggggtcctcatcgact	7	10	15	9	2	2	2	1	2	1	0	4	4	3	3	2	4	2	1	2	4	2	0			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr16:89703634G>A	ENST00000393092.3	+	7	905	c.614G>A	c.(613-615)cGt>cAt	p.R205H	DPEP1_ENST00000421184.1_Missense_Mutation_p.R205H|DPEP1_ENST00000261615.4_Missense_Mutation_p.R205H	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)	205					proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding			large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	GAGCTGAACCGTCTGGGGGTC	0.662													10	58					0	0	0.008291	0	0	A	89703634	G	A	89703634	3	1	160	1	0	0	0	0	1	0	0	0	4740	1145	40	1	636	1	DPEP1	16	89703634	Missense_Mutation	SNP	G	TCGA-HC-7077-01A-11D-1961-08	23271728	89703634	651119	50	7546											
RPA1	6117	broad.mit.edu	37	chr17	1787221	1787221	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaggtcaaatccgagaacCtgggccaaggcgacaaggta	14	5	13	9	2	1	2	1	1	0	1	2	4	2	2	3	4	1	1	3	4	5	1			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr17:1787221C>G	ENST00000254719.5	+	13	1467	c.1357C>G	c.(1357-1359)Ctg>Gtg	p.L453V		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	453					cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						ATCCGAGAACCTGGGCCAAGG	0.493								Nucleotide excision repair (NER)					31	66					0	0	0.015359	0	0	G	1787221	C	G	1787221	3	3	160	1	0	0	0	0	1	0	0	0	13588	680	24	4	1407	4	RPA1	17	1787221	Missense_Mutation	SNP	C	TCGA-HC-7077-01A-11D-1961-08		1787221	79407989	51	7547											
SYNRG	11276	broad.mit.edu	37	chr17	35945534	35945534	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttttgctgctgttcaaatcGtttcctgaaggaaaaatgat	11	16	8	6	1	1	2	1	2	0	0	3	3	2	3	1	1	2	4	1	1	4	4			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr17:35945534G>A	ENST00000339208.6	-	5	516	c.376C>T	c.(376-378)Cga>Tga	p.R126*	SYNRG_ENST00000591288.1_Nonsense_Mutation_p.R126*|SYNRG_ENST00000585472.1_Nonsense_Mutation_p.R125*|SYNRG_ENST00000502449.2_Nonsense_Mutation_p.R126*|SYNRG_ENST00000394378.2_Nonsense_Mutation_p.R126*|SYNRG_ENST00000346661.4_Nonsense_Mutation_p.R126*|SYNRG_ENST00000345615.4_Nonsense_Mutation_p.R126*	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	126					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TGTTCAAATCGTTTCCTGAAG	0.373													14	103					0	0	0.00499	0	0	A	35945534	G	A	35945534	4	1	160	1	0	0	0	0	0	1	0	0	15517	1153	40	1	3713	1	SYNRG	17	35945534	Nonsense_Mutation	SNP	G	TCGA-HC-7077-01A-11D-1961-08	34158313	35945534	45249676	52	7548											
DNAH17	8632	broad.mit.edu	37	chr17	76421442	76421442	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttaccttccatgaagagtcCgtacacgtaggagccctctc	9	10	8	14	2	1	2	0	1	1	1	4	3	3	3	4	1	3	2	4	1	4	4			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr17:76421442C>T	ENST00000389840.5	-	80	13319	c.13195G>A	c.(13195-13197)Gga>Aga	p.G4399R	DNAH17_ENST00000585328.1_Missense_Mutation_p.G4371R|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ATGAAGAGTCCGTACACGTAG	0.532													11	134					0	0	0.010729	0	0	T	76421442	C	T	76421442	3	4	160	1	0	0	0	0	1	0	0	0	4629	661	23	1	270	1	DNAH17	17	76421442	Missense_Mutation	SNP	C	TCGA-HC-7077-01A-11D-1961-08	40475908	76421442	4773768	53	7549											
SBNO2	22904	broad.mit.edu	37	chr19	1113561	1113561	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acccgctgggggccgcccagCtggtcgatgagctcgtccag	5	6	15	15	4	0	1	0	1	0	0	3	2	1	1	4	3	2	3	4	3	0	0			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr19:1113561C>T	ENST00000361757.3	-	19	2457	c.2220G>A	c.(2218-2220)caG>caA	p.Q740Q	SBNO2_ENST00000587024.1_Silent_p.Q730Q|SBNO2_ENST00000438103.2_Silent_p.Q683Q	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	740					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCGCCCAGCTGGTCGATGA	0.697													4	59					0	0	0.009096	0	0	T	1113561	C	T	1113561	2	4	160	1	0	0	0	0	0	0	0	1	13916	796	28	2		2	SBNO2	19	1113561	Silent	SNP	C	TCGA-HC-7077-01A-11D-1961-08		1113561	58015422	54	7550											
MUC16	94025	broad.mit.edu	37	chr19	9014619	9014619	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctcagctcccagtatagctGctccctgtccactccagggc	6	9	9	17	0	1	0	1	0	0	0	5	0	5	0	4	1	3	5	4	1	2	2			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr19:9014619G>C	ENST00000397910.4	-	31	38559	c.38356C>G	c.(38356-38358)Cag>Gag	p.Q12786E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12788	SEA 5.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGTATAGCTGCTCCCTGTCC	0.567													49	129					0	0	0.01441	0	0	C	9014619	G	C	9014619	3	2	160	1	0	0	0	0	1	0	0	0	10021	1328	46	4	5383	4	MUC16	19	9014619	Missense_Mutation	SNP	G	TCGA-HC-7077-01A-11D-1961-08	7901058	9014619	50114364	55	7551											
DHX34	9704	broad.mit.edu	37	chr19	47856825	47856825	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agacgctgaaggagcaccagGtggtggtagtggccggtgac	9	6	18	8	2	0	3	0	2	0	1	0	4	0	4	2	6	1	3	2	6	2	1			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr19:47856825G>A	ENST00000328771.4	+	2	887	c.538G>A	c.(538-540)Gtg>Atg	p.V180M		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	180	Helicase ATP-binding.					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		GGAGCACCAGGTGGTGGTAGT	0.662													13	47					0	0	0.013537	0	0	A	47856825	G	A	47856825	3	1	160	1	0	0	0	0	1	0	0	0	4535	1261	44	2	540	2	DHX34	19	47856825	Missense_Mutation	SNP	G	TCGA-HC-7077-01A-11D-1961-08	38842206	47856825	11272158	56	7552											
KCNQ2	3785	broad.mit.edu	37	chr20	62038263	62038263	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgggatggagatggacgtgtCgctgtcccgcaggttcccct	5	9	15	12	4	0	1	0	0	0	1	3	4	2	3	3	4	0	3	3	4	0	1			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr20:62038263C>T	ENST00000354587.3	-	17	2553	c.2377G>A	c.(2377-2379)Gac>Aac	p.D793N	KCNQ2_ENST00000359125.2_Missense_Mutation_p.D785N|KCNQ2_ENST00000357249.2_Missense_Mutation_p.D767N|KCNQ2_ENST00000370226.1_Missense_Mutation_p.D755N|KCNQ2_ENST00000370224.1_Missense_Mutation_p.D793N|KCNQ2_ENST00000430658.1_Missense_Mutation_p.D754N|KCNQ2_ENST00000359689.1_Missense_Mutation_p.D785N|KCNQ2_ENST00000360480.3_Missense_Mutation_p.D757N|KCNQ2_ENST00000344462.3_Missense_Mutation_p.D781N			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	785					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	ATGGACGTGTCGCTGTCCCGC	0.672													10	23					0	0	0.006214	0	0	T	62038263	C	T	62038263	3	4	160	1	0	0	0	0	1	0	0	0	8127	884	31	1	269	1	KCNQ2	20	62038263	Missense_Mutation	SNP	C	TCGA-HC-7077-01A-11D-1961-08		62038263	987257	57	7553											
UBASH3A	53347	broad.mit.edu	37	chr21	43829625	43829625	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggggcccctgctggaaaaaCttcaagagttctggagagag	11	7	14	9	1	2	2	1	0	1	2	2	5	2	4	2	4	2	2	2	4	3	2			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr21:43829625C>T	ENST00000319294.6	+	3	293	c.262C>T	c.(262-264)Ctt>Ttt	p.L88F	UBASH3A_ENST00000398367.1_Missense_Mutation_p.L88F|UBASH3A_ENST00000450356.1_Missense_Mutation_p.L88F|UBASH3A_ENST00000291535.6_Missense_Mutation_p.L88F	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	88						cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						GCTGGAAAAACTTCAAGAGTT	0.537													4	112					0	0	0.009096	0	0	T	43829625	C	T	43829625	3	4	160	1	0	0	0	0	1	0	0	0	16900	565	20	2	272	2	UBASH3A	21	43829625	Missense_Mutation	SNP	C	TCGA-HC-7077-01A-11D-1961-08		43829625	4300270	58	7554											
WDR4	10785	broad.mit.edu	37	chr21	44283564	44283564	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acctaccacatctaacagcaTagacaggtgccccagctcta	13	7	6	15	0	2	1	0	0	2	1	2	1	2	1	4	1	5	2	4	1	4	4			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr21:44283564T>C	ENST00000398208.2	-	4	498	c.439A>G	c.(439-441)Atg>Gtg	p.M147V	WDR4_ENST00000330317.2_Missense_Mutation_p.M147V|WDR4_ENST00000492742.1_5'UTR	NM_001260474.1|NM_001260475.1|NM_001260476.1|NM_018669.5	NP_001247403.1|NP_001247404.1|NP_001247405.1|NP_061139.2	P57081	WDR4_HUMAN	WD repeat domain 4	147					tRNA modification	cytoplasm|nucleoplasm	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|ovary(2)	11				Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)		TCTAACAGCATAGACAGGTGC	0.612													22	59					0	0	0.01892	0	0	C	44283564	T	C	44283564	3	2	160	1	0	0	0	0	1	0	0	0	17353	1406	49	3	831	3	WDR4	21	44283564	Missense_Mutation	SNP	T	TCGA-HC-7077-01A-11D-1961-08	453939	44283564	3846331	59	7555											
PICK1	9463	broad.mit.edu	37	chr22	38455291	38455291	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctgcagaaggatgctcagaAcctgatcgggatcagcattg	11	8	12	10	1	2	3	2	1	0	2	3	5	2	5	2	2	4	3	2	2	2	1			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr22:38455291A>G	ENST00000404072.3	+	3	439	c.92A>G	c.(91-93)aAc>aGc	p.N31S	PICK1_ENST00000468288.1_3'UTR|RP5-1039K5.13_ENST00000445483.1_RNA|PICK1_ENST00000356976.3_Missense_Mutation_p.N31S	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN	protein interacting with PRKCA 1	31	PDZ.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					GATGCTCAGAACCTGATCGGG	0.572													4	7					0	0	0.014758	0	0	G	38455291	A	G	38455291	3	3	160	1	0	0	0	0	1	0	0	0	11929	43	2	3	98	3	PICK1	22	38455291	Missense_Mutation	SNP	A	TCGA-HC-7077-01A-11D-1961-08		38455291	12849275	60	7556											
A4GALT	53947	broad.mit.edu	37	chr22	43088924	43088924	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acattttcatggcctcgtgcGtcgtggggcagtagcgggca	6	10	15	10	4	1	0	1	0	0	0	3	0	1	0	1	4	2	3	1	4	1	3			TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chr22:43088924G>A	ENST00000401850.1	-	2	1523	c.1034C>T	c.(1033-1035)aCg>aTg	p.T345M	A4GALT_ENST00000249005.2_Missense_Mutation_p.T345M|A4GALT_ENST00000381278.3_Missense_Mutation_p.T345M			Q9NPC4	A4GAT_HUMAN	alpha 1,4-galactosyltransferase	345					glycosphingolipid biosynthetic process|plasma membrane organization	Golgi stack|integral to Golgi membrane|membrane fraction	lactosylceramide 4-alpha-galactosyltransferase activity			NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						GGCCTCGTGCGTCGTGGGGCA	0.652													17	69					0	0	0.010504	0	0	A	43088924	G	A	43088924	3	1	160	1	0	0	0	0	1	0	0	0	6	1145	40	1	31	1	A4GALT	22	43088924	Missense_Mutation	SNP	G	TCGA-HC-7077-01A-11D-1961-08	4633633	43088924	8215642	61	7557											
MXRA5	25878	broad.mit.edu	37	chrX	3228396	3228396	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagcggcattgcgggccacGcagcggtaggccccggcgtc	5	4	16	16	6	0	0	0	0	0	0	1	0	0	0	4	5	3	3	4	5	1	2	rs151002571	byFrequency	TCGA-HC-7077-01A-11D-1961-08	TCGA-HC-7077-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd03be72-06ff-46b7-920e-533ae0988028	c7014407-f794-4174-bf47-38a2745c06b8	g.chrX:3228396G>A	ENST00000217939.6	-	7	8002	c.7848C>T	c.(7846-7848)tgC>tgT	p.C2616C		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2616	Ig-like C2-type 10.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGCGGGCCACGCAGCGGTAGG	0.602													12	13					0	0	0.016723	0	0	A	3228396	G	A	3228396	2	1	160	1	0	0	0	0	0	0	0	1	10051	1079	38	1		1	MXRA5	23	3228396	Silent	SNP	G	TCGA-HC-7077-01A-11D-1961-08		3228396	152042164	62	7558											
SYNC	81493	broad.mit.edu	37	chr1	33149862	33149862	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagcagcagaaactgacttaTaagtagagagctcttcagca	15	9	9	8	0	2	3	1	1	1	2	2	4	2	3	0	0	5	5	0	0	5	5			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr1:33149862T>C	ENST00000373484.3	-	3	1454	c.1355A>G	c.(1354-1356)tAt>tGt	p.Y452C	RBBP4_ENST00000373493.5_3'UTR|SYNC_ENST00000409190.3_Missense_Mutation_p.Y452C	NM_001161708.1	NP_001155180.1	Q9H7C4	SYNCI_HUMAN	syncoilin, intermediate filament protein	452	Coil 2.					intermediate filament|perinuclear region of cytoplasm	structural molecule activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						AACTGACTTATAAGTAGAGAG	0.433													133	186					0	0	1	0	0	C	33149862	T	C	33149862	3	2	161	1	0	0	0	0	1	0	0	0	15500	1406	49	3	167	3	SYNC	1	33149862	Missense_Mutation	SNP	T	TCGA-HC-7078-01A-11D-2114-08		33149862	216100759	1	7559											
HCN3	57657	broad.mit.edu	37	chr1	155255754	155255754	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	accgatggatcctactttggGggtcagcaggcctcagggag	8	8	15	10	1	2	0	2	0	0	0	3	3	3	2	3	5	2	1	3	5	1	2			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr1:155255754G>T	ENST00000368358.3	+	6	1484	c.1477_splice	c.e6+1	p.G492_splice	HCN3_ENST00000496230.1_3'UTR	NM_020897.1	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	492						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCTACTTTGGGGGTCAGCAGG	0.647													54	114					5.82089e-37	6.1847e-37	1	1	0	T	155255754	G	T	155255754	5	4	161	1	0	0	0	0	0	0	1	0	7039	1246	43	4	1498	4	HCN3	1	155255754	Splice_Site	SNP	G	TCGA-HC-7078-01A-11D-2114-08	122105892	155255754	93994867	2	7560											
POLR1B	84172	broad.mit.edu	37	chr2	113332905	113332905	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtttattatcagcgcttaCgccatatggtctcagacaaa	11	13	8	9	2	2	1	2	0	1	1	3	1	2	1	1	2	2	2	1	2	5	5			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr2:113332905C>G	ENST00000263331.5	+	15	3587	c.3007C>G	c.(3007-3009)Cgc>Ggc	p.R1003G	POLR1B_ENST00000537335.1_Missense_Mutation_p.R792G|POLR1B_ENST00000417433.2_Missense_Mutation_p.R947G|POLR1B_ENST00000409894.3_Missense_Mutation_p.R820G|POLR1B_ENST00000541869.1_Missense_Mutation_p.R1041G	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	1003					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						TCAGCGCTTACGCCATATGGT	0.478													18	40					0	0	1	0	0	G	113332905	C	G	113332905	3	3	161	1	0	0	0	0	1	0	0	0	12258	536	19	4	3065	4	POLR1B	2	113332905	Missense_Mutation	SNP	C	TCGA-HC-7078-01A-11D-2114-08		113332905	129866468	3	7561											
CCDC74B	91409	broad.mit.edu	37	chr2	130902456	130902456	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcgctctgcctgagctgcggGctctgcggcctcaaggactg	4	9	14	14	3	3	1	1	1	2	0	4	2	3	2	2	3	4	3	2	3	1	0			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr2:130902456G>C	ENST00000310463.6	-	1	251	c.114C>G	c.(112-114)agC>agG	p.S38R	CCDC74B_ENST00000409128.1_Missense_Mutation_p.S38R|CCDC74B_ENST00000392984.3_5'UTR|CCDC74B_ENST00000409943.3_Missense_Mutation_p.S38R|CCDC74B_ENST00000409234.3_Missense_Mutation_p.S38R	NM_207310.2	NP_997193.1	Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	38										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					TGAGCTGCGGGCTCTGCGGCC	0.716													17	24					0	0	1	0	0	C	130902456	G	C	130902456	3	2	161	1	0	0	0	0	1	0	0	0	2868	1194	42	4	1060	4	CCDC74B	2	130902456	Missense_Mutation	SNP	G	TCGA-HC-7078-01A-11D-2114-08	17569551	130902456	112296917	4	7562											
HOXD10	3236	broad.mit.edu	37	chr2	176981857	176981857	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acctgttacacagcaagtccCcacttgctccttcaccacca	10	9	4	18	0	1	0	1	0	0	0	3	0	3	0	6	0	3	3	6	0	2	3			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr2:176981857C>T	ENST00000249501.4	+	1	551	c.296C>T	c.(295-297)cCc>cTc	p.P99L	HOXD10_ENST00000490088.2_Intron	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	99						nucleus	sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		CAGCAAGTCCCCACTTGCTCC	0.448													36	65					0	0	1	0	0	T	176981857	C	T	176981857	3	4	161	1	0	0	0	0	1	0	0	0	7360	623	22	2	298	2	HOXD10	2	176981857	Missense_Mutation	SNP	C	TCGA-HC-7078-01A-11D-2114-08	46079401	176981857	66217516	5	7563											
TTN	7273	broad.mit.edu	37	chr2	179648886	179648886	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacttcctttttcacctcaaCgccagcttcactcttgtaag	8	15	4	14	1	4	0	3	0	1	0	5	0	5	0	3	0	3	2	3	0	3	7			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr2:179648886C>T	ENST00000589042.1	-	16	2910	c.2686G>A	c.(2686-2688)Gtt>Att	p.V896I	TTN_ENST00000460472.2_Missense_Mutation_p.V850I|TTN_ENST00000360870.5_Missense_Mutation_p.V896I|TTN_ENST00000359218.5_Missense_Mutation_p.V850I|TTN_ENST00000342992.6_Missense_Mutation_p.V896I|TTN_ENST00000342175.6_Missense_Mutation_p.V850I|TTN_ENST00000591111.1_Missense_Mutation_p.V896I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	896							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.V850I(3)|p.V896I(2)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCACCTCAACGCCAGCTTCA	0.547													43	92					0	0	1	0	0	T	179648886	C	T	179648886	3	4	161	1	0	0	0	0	1	0	0	0	16797	536	19	1	108690	1	TTN	2	179648886	Missense_Mutation	SNP	C	TCGA-HC-7078-01A-11D-2114-08	2667029	179648886	63550487	6	7564											
ANO10	55129	broad.mit.edu	37	chr3	43618225	43618225	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagcatatcgatagagacgaTtcatgatctcaatcacaatg	15	10	7	9	2	3	2	3	1	1	1	5	5	3	2	0	0	1	1	0	0	4	3			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr3:43618225T>C	ENST00000292246.3	-	6	1291	c.1121A>G	c.(1120-1122)aAt>aGt	p.N374S	ANO10_ENST00000451430.2_Missense_Mutation_p.N263S|ANO10_ENST00000414522.2_Missense_Mutation_p.N374S|ANO10_ENST00000396091.3_Missense_Mutation_p.N308S|ANO10_ENST00000350459.4_Intron	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	374					cell death	chloride channel complex	chloride channel activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						ATAGAGACGATTCATGATCTC	0.453													18	34					0	0	1	0	0	C	43618225	T	C	43618225	3	2	161	1	0	0	0	0	1	0	0	0	690	1493	52	3	893	3	ANO10	3	43618225	Missense_Mutation	SNP	T	TCGA-HC-7078-01A-11D-2114-08		43618225	154404205	7	7565											
FYCO1	79443	broad.mit.edu	37	chr3	46021201	46021201	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcttgctcagcttacctctGagatagacttgacaaagcgg	10	11	10	10	1	2	3	1	2	1	2	2	4	2	3	1	1	5	3	1	1	3	4			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr3:46021201G>A	ENST00000296137.2	-	4	489	c.284C>T	c.(283-285)tCa>tTa	p.S95L	FYCO1_ENST00000535325.1_Missense_Mutation_p.S95L	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	95	RUN.				transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		GCTTACCTCTGAGATAGACTT	0.498													38	89					0	0	1	0	0	A	46021201	G	A	46021201	3	1	161	1	0	0	0	0	1	0	0	0	6160	1294	45	2	4212	2	FYCO1	3	46021201	Missense_Mutation	SNP	G	TCGA-HC-7078-01A-11D-2114-08	2402976	46021201	152001229	8	7566											
OR5H6	79295	broad.mit.edu	37	chr3	97984008	97984008	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atatgatggagtctctatttTacactgtcatagttccttta	10	18	6	7	0	2	1	1	1	1	0	4	2	3	2	1	1	1	1	1	1	5	8			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr3:97984008T>C	ENST00000383696.2	+	1	921	c.880T>C	c.(880-882)Tac>Cac	p.Y294H	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GTCTCTATTTTACACTGTCAT	0.378													16	35					0	0	1	0	0	C	97984008	T	C	97984008	3	2	161	1	0	0	0	0	1	0	0	0	11210	1754	61	3	882	3	OR5H6	3	97984008	Missense_Mutation	SNP	T	TCGA-HC-7078-01A-11D-2114-08	51962807	97984008	100038422	9	7567											
CD86	942	broad.mit.edu	37	chr3	121828209	121828209	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atggttttctgtctaattctAtggaaatggaagaagaagaa	15	13	10	3	0	3	3	0	0	3	3	3	5	3	5	0	3	0	1	0	3	7	5			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr3:121828209A>T	ENST00000330540.2	+	5	917	c.801A>T	c.(799-801)ctA>ctT	p.L267L	CD86_ENST00000393627.2_Silent_p.L261L|CD86_ENST00000469710.1_Silent_p.L185L|CD86_ENST00000493101.1_Silent_p.L155L|CD86_ENST00000264468.5_Silent_p.L54L	NM_175862.4	NP_787058.4	P42081	CD86_HUMAN	CD86 molecule	267					interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	GTCTAATTCTATGGAAATGGA	0.458													51	92					0	0	1	0	0	T	121828209	A	T	121828209	2	4	161	1	0	0	0	0	0	0	0	1	3065	436	16	5		5	CD86	3	121828209	Silent	SNP	A	TCGA-HC-7078-01A-11D-2114-08	23844201	121828209	76194221	10	7568											
TRH	7200	broad.mit.edu	37	chr3	129695840	129695840	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaaggagctgggaagaagaGgaggaggaggaagagagaga	18	1	20	2	0	0	4	0	0	0	4	0	12	0	10	0	6	1	1	0	6	4	0			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr3:129695840G>A	ENST00000302649.3	+	3	1037	c.510G>A	c.(508-510)gaG>gaA	p.E170E	TRH_ENST00000507066.1_Silent_p.E166E	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	170					cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity	p.E170E(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						Gggaagaagaggaggaggagg	0.642													3	55					0	0	1	0	0	A	129695840	G	A	129695840	2	1	161	1	0	0	0	0	0	0	0	1	16539	991	35	2		2	TRH	3	129695840	Silent	SNP	G	TCGA-HC-7078-01A-11D-2114-08	7867631	129695840	68326590	11	7569											
PIK3CA	5290	broad.mit.edu	37	chr3	178921553	178921553	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgtgcaacctacgtgaaTgtaaatattcgagacattga	13	13	8	7	2	0	3	0	2	0	1	1	4	0	3	1	0	3	2	1	0	6	6	rs121913284		TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr3:178921553T>A	ENST00000263967.3	+	5	1192	c.1035T>A	c.(1033-1035)aaT>aaA	p.N345K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	345					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.N345K(44)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CCTACGTGAATGTAAATATTC	0.308		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			6	62					0	0	1	0	0	A	178921553	T	A	178921553	3	1	161	1	0	0	0	0	1	0	0	0	11961	1461	51	5	1049	5	PIK3CA	3	178921553	Missense_Mutation	SNP	T	TCGA-HC-7078-01A-11D-2114-08	49225713	178921553	19100877	12	7570											
SLC26A1	10861	broad.mit.edu	37	chr4	985025	985025	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgagggtgctgctgttggctCcgggctgcaggccgtcctgg	2	10	18	11	2	0	1	0	1	0	0	2	1	2	1	3	5	3	6	3	5	0	1			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr4:985025C>T	ENST00000361661.2	-	3	844	c.467G>A	c.(466-468)gGa>gAa	p.G156E	SLC26A1_ENST00000398520.2_Missense_Mutation_p.G156E|IDUA_ENST00000247933.4_Intron|SLC26A1_ENST00000398516.2_Missense_Mutation_p.G156E|IDUA_ENST00000453894.1_Intron	NM_213613.2	NP_998778.1	Q9H2B4	S26A1_HUMAN	solute carrier family 26 (anion exchanger), member 1	156						integral to membrane|plasma membrane	secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GCTGTTGGCTCCGGGCTGCAG	0.687													23	32					0	0	1	0	0	T	985025	C	T	985025	3	4	161	1	0	0	0	0	1	0	0	0	14569	855	30	2	1749	2	SLC26A1	4	985025	Missense_Mutation	SNP	C	TCGA-HC-7078-01A-11D-2114-08		985025	190169251	13	7571											
HGFAC	3083	broad.mit.edu	37	chr4	3443797	3443797	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggccccttcctcctcctcctCctgctgctgctgctgctgcc	0	12	8	21	0	0	0	0	0	0	0	5	0	5	0	8	1	6	5	8	1	0	1			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr4:3443797C>G	ENST00000382774.3	+	1	184	c.69C>G	c.(67-69)ctC>ctG	p.L23L	HGFAC_ENST00000511533.1_Silent_p.L23L	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	23					proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TCCTCCTCCTCCTGCTGCTGC	0.716													3	54					0	0	1	0	0	G	3443797	C	G	3443797	2	3	161	1	0	0	0	0	0	0	0	1	7127	842	30	4		4	HGFAC	4	3443797	Silent	SNP	C	TCGA-HC-7078-01A-11D-2114-08	2458772	3443797	187710479	14	7572											
KIAA1211	57482	broad.mit.edu	37	chr4	57181439	57181439	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctaccgtcgtccctgagcGttccccacaccgccattctg	5	9	7	20	4	1	1	0	1	1	0	4	1	3	1	7	0	2	1	7	0	1	3			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr4:57181439G>T	ENST00000504228.1	+	6	1876	c.1771G>T	c.(1771-1773)Gtt>Ttt	p.V591F	KIAA1211_ENST00000541073.1_Missense_Mutation_p.V584F|KIAA1211_ENST00000264229.6_Missense_Mutation_p.V591F			Q6ZU35	K1211_HUMAN	KIAA1211	591										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GTCCCTGAGCGTTCCCCACAC	0.672													12	19					0.0135373	0.0135373	1	1	0	T	57181439	G	T	57181439	3	4	161	1	0	0	0	0	1	0	0	0	8257	1145	40	4	1789	4	KIAA1211	4	57181439	Missense_Mutation	SNP	G	TCGA-HC-7078-01A-11D-2114-08	53737642	57181439	133972837	15	7573											
TRIML1	339976	broad.mit.edu	37	chr4	189060921	189060921	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatttccagtcaaacgagcGtctggggaggctggccagca	9	7	14	11	2	2	0	1	0	1	0	3	2	3	1	2	4	3	3	2	4	1	1	rs112281664		TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr4:189060921G>A	ENST00000332517.3	+	1	349	c.209G>A	c.(208-210)cGt>cAt	p.R70H		NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	70					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		TCAAACGAGCGTCTGGGGAGG	0.617													43	59					0	0	1	0	0	A	189060921	G	A	189060921	3	1	161	1	0	0	0	0	1	0	0	0	16611	1145	40	1	211	1	TRIML1	4	189060921	Missense_Mutation	SNP	G	TCGA-HC-7078-01A-11D-2114-08	131879482	189060921	2093355	16	7574											
PCDHB7	0	broad.mit.edu	37	chr5	140553994	140553994	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gactacgaggccctgcaggcGttcgagttccgcgtgggcgc	5	7	16	13	6	0	0	0	0	0	0	2	3	1	0	2	3	2	3	2	3	1	3			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr5:140553994G>T	ENST00000231137.3	+	1	1752	c.1578G>T	c.(1576-1578)gcG>gcT	p.A526A		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		526	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A526A(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTGCAGGCGTTCGAGTTCC	0.706													4	108					0.000602214	0.000611203	1	1	0	T	140553994	G	T	140553994	2	4	161	1	0	0	0	0	0	0	0	1	11594	1132	40	4		4	PCDHB7	5	140553994	Silent	SNP	G	TCGA-HC-7078-01A-11D-2114-08		140553994	40361266	17	7575											
GRIA1	0	broad.mit.edu	37	chr5	153144140	153144140	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggacctagcgaagcagaCagaaattgcctacgggacgc	14	4	13	10	3	0	3	0	0	0	3	0	6	0	5	2	2	4	1	2	2	4	3			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr5:153144140C>A	ENST00000285900.5	+	12	2313	c.1970C>A	c.(1969-1971)aCa>aAa	p.T657K	GRIA1_ENST00000448073.4_Missense_Mutation_p.T667K|GRIA1_ENST00000518142.1_Missense_Mutation_p.T577K|GRIA1_ENST00000518783.1_Missense_Mutation_p.T667K|GRIA1_ENST00000340592.5_Missense_Mutation_p.T657K|GRIA1_ENST00000521843.2_Missense_Mutation_p.T588K	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	657					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GCGAAGCAGACAGAAATTGCC	0.502													13	39					2.61681e-11	2.73759e-11	1	1	0	A	153144140	C	A	153144140	3	1	161	1	0	0	0	0	1	0	0	0	6808	478	17	4	2016	4	GRIA1	5	153144140	Missense_Mutation	SNP	C	TCGA-HC-7078-01A-11D-2114-08	12590146	153144140	27771120	18	7576											
TNXB	7148	broad.mit.edu	37	chr6	32020750	32020750	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgctgggttctgtgggggCgggagtttcttcctctgcag	2	13	17	9	2	3	0	0	0	3	0	4	1	4	1	1	4	2	4	1	4	0	3			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr6:32020750C>T	ENST00000375244.3	-	26	9013	c.8812G>A	c.(8812-8814)Gcc>Acc	p.A2938T	TNXB_ENST00000375247.2_Missense_Mutation_p.A2936T			P22105	TENX_HUMAN	tenascin XB	2983	Fibronectin type-III 21.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TCTGTGGGGGCGGGAGTTTCT	0.642													23	47					0	0	1	0	0	T	32020750	C	T	32020750	3	4	161	1	0	0	0	0	1	0	0	0	16406	768	27	1	5983	1	TNXB	6	32020750	Missense_Mutation	SNP	C	TCGA-HC-7078-01A-11D-2114-08		32020750	139094317	19	7577											
PLOD3	8985	broad.mit.edu	37	chr7	100855927	100855927	+	Frame_Shift_Del	DEL	G	G	-																															aaacacggccagaaacacccGggggggaggctggaagatgc																										TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr7:100855927delG	ENST00000223127.3	-	9	1287	c.889delC	c.(889-891)ggfs	p.R297fs		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	297					protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding	p.R297fs*61(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	AGAAACACCCGGGGGGGAGGC	0.642													7	99	---	---	---	---						-	100855927	G	-	100855927	7	5	161	1	0	1	0	1	0	0	0	0	12151	1115	39	0	1371	0	PLOD3	7	100855927	Frame_Shift_Del	DEL	G	TCGA-HC-7078-01A-11D-2114-08		100855927	58282736	20	7578											
FOXP2	93986	broad.mit.edu	37	chr7	114271580	114271582	+	Splice_Site	DEL	CAG	CAG	-																															tggtttgggttttctgatacCagcagcagcagcagcagcag																										TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr7:114271580_114271582delCAG	ENST00000393500.3	+	12	1192		c.e12-1		FOXP2_ENST00000393489.3_Splice_Site|FOXP2_ENST00000360232.4_Splice_Site|FOXP2_ENST00000403559.4_Splice_Site|FOXP2_ENST00000378237.3_Splice_Site|FOXP2_ENST00000393494.2_Splice_Site|FOXP2_ENST00000390668.3_Splice_Site|FOXP2_ENST00000393498.2_Intron|FOXP2_ENST00000408937.3_Splice_Site|FOXP2_ENST00000350908.4_Splice_Site|FOXP2_ENST00000393491.3_Splice_Site			O15409	FOXP2_HUMAN	forkhead box P2						camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.?(3)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						TTTCTGATACcagcagcagcagc	0.512													2	4	---	---	---	---						-	114271582	CAG	-	114271580	8	5	161	1	0	1	0	1	0	0	1	0	6061	609	21	0		0	FOXP2	7	114271580	Splice_Site	DEL	CAG	TCGA-HC-7078-01A-11D-2114-08	13415653	114271580	44867083	21	7579											
TRIB1	10221	broad.mit.edu	37	chr8	126448347	126448347	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccagcctacgtgagcccTgagatcctcaacaccactgg	9	7	9	16	1	1	2	1	2	0	1	2	3	2	2	5	1	5	0	5	1	2	1			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr8:126448347T>C	ENST00000311922.3	+	3	1335	c.753T>C	c.(751-753)ccT>ccC	p.P251P	TRIB1_ENST00000520847.1_Silent_p.P85P|TRIB1_ENST00000519576.1_Silent_p.P20P	NM_025195.2	NP_079471.1	Q96RU8	TRIB1_HUMAN	tribbles pseudokinase 1	251	Protein kinase.				JNK cascade|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity|response to lipopolysaccharide	cytoplasm|nucleus	ATP binding|mitogen-activated protein kinase kinase binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			NS(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8	all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			ACGTGAGCCCTGAGATCCTCA	0.537													3	71					0	0	1	0	0	C	126448347	T	C	126448347	2	2	161	1	0	0	0	0	0	0	0	1	16543	1567	55	3		3	TRIB1	8	126448347	Silent	SNP	T	TCGA-HC-7078-01A-11D-2114-08		126448347	19915675	22	7580											
OR1Q1	158131	broad.mit.edu	37	chr9	125377695	125377695	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatcatcctggtggtcctcCggatcccctcagccaagggc	6	8	11	16	1	2	0	2	0	0	0	6	1	6	1	6	4	1	1	6	4	1	0			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr9:125377695C>T	ENST00000297913.2	+	1	748	c.679C>T	c.(679-681)Cgg>Tgg	p.R227W	RP11-64P14.7_ENST00000431442.1_RNA	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q, member 1	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						GGTGGTCCTCCGGATCCCCTC	0.537													10	129					0	0	1	0	0	T	125377695	C	T	125377695	3	4	161	1	0	0	0	0	1	0	0	0	11019	643	23	1	681	1	OR1Q1	9	125377695	Missense_Mutation	SNP	C	TCGA-HC-7078-01A-11D-2114-08		125377695	15835736	23	7581											
SH2D3C	10044	broad.mit.edu	37	chr9	130507135	130507135	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccactctcggctgccaCgcacgggaggctggagctgg	5	6	15	15	3	1	0	0	0	1	0	2	2	1	2	2	5	3	4	2	5	0	0			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr9:130507135C>T	ENST00000314830.8	-	7	1621	c.1508G>A	c.(1507-1509)cGt>cAt	p.R503H	SH2D3C_ENST00000373276.3_Missense_Mutation_p.R435H|SH2D3C_ENST00000429553.1_Missense_Mutation_p.R149H|SH2D3C_ENST00000373277.4_Missense_Mutation_p.R346H|SH2D3C_ENST00000471939.1_5'UTR|SH2D3C_ENST00000420366.1_Missense_Mutation_p.R345H|SH2D3C_ENST00000373274.3_Missense_Mutation_p.R343H	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	503					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TCGGCTGCCACGCACGGGAGG	0.642													6	266					0	0	1	0	0	T	130507135	C	T	130507135	3	4	161	1	0	0	0	0	1	0	0	0	14288	536	19	1	1098	1	SH2D3C	9	130507135	Missense_Mutation	SNP	C	TCGA-HC-7078-01A-11D-2114-08	5129440	130507135	10706296	24	7582											
MUC5B	727897	broad.mit.edu	37	chr11	1272259	1272259	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagcacggccaccacacccGcagccaccagctccaaagcc	11	1	7	22	2	0	0	0	0	0	0	1	0	1	0	8	1	4	3	8	1	1	0			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr11:1272259G>A	ENST00000447027.1	+	31	14216	c.14158G>A	c.(14158-14160)Gca>Aca	p.A4720T	MUC5B_ENST00000529681.1_Missense_Mutation_p.A4717T			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4717	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		caccacacccgcagccaccag	0.612													3	88					0	0	1	0	0	A	1272259	G	A	1272259	3	1	161	1	0	0	0	0	1	0	0	0	10027	1087	38	1	14280	1	MUC5B	11	1272259	Missense_Mutation	SNP	G	TCGA-HC-7078-01A-11D-2114-08		1272259	133734257	25	7583											
LMO2	4005	broad.mit.edu	37	chr11	33886237	33886237	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggcagccacagaggtcgcaGctcaggcagtcctcgtgcca	8	5	13	15	3	1	1	1	0	0	1	4	1	2	1	3	3	3	4	3	3	0	0			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr11:33886237G>A	ENST00000257818.2	-	5	1204	c.375C>T	c.(373-375)agC>agT	p.S125S	LMO2_ENST00000395833.3_Silent_p.S56S	NM_005574.3	NP_005565.2	P25791	RBTN2_HUMAN	LIM domain only 2 (rhombotin-like 1)	56	LIM zinc-binding 2.				multicellular organismal development	nucleus	protein binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)|urinary_tract(1)	14						AGAGGTCGCAGCTCAGGCAGT	0.647			T	TRD@	T-ALL								3	73					0	0	1	0	0	A	33886237	G	A	33886237	2	1	161	1	0	0	0	0	0	0	0	1	8893	962	34	2		2	LMO2	11	33886237	Silent	SNP	G	TCGA-HC-7078-01A-11D-2114-08	32613978	33886237	101120279	26	7584											
EHD1	10938	broad.mit.edu	37	chr11	64622147	64622147	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgccgtagccgtgcccgaaCggcccgttcatggtgccgtc	4	8	13	16	7	1	0	1	0	0	0	3	1	1	0	5	2	4	2	5	2	2	2			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr11:64622147C>T	ENST00000320631.3	-	5	1517	c.1263G>A	c.(1261-1263)ccG>ccA	p.P421P	EHD1_ENST00000359393.2_Silent_p.P421P|EHD1_ENST00000488711.1_5'UTR	NM_006795.2	NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	421					blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						CGTGCCCGAACGGCCCGTTCA	0.667													13	147					0	0	1	0	0	T	64622147	C	T	64622147	2	4	161	1	0	0	0	0	0	0	0	1	5003	523	19	1		1	EHD1	11	64622147	Silent	SNP	C	TCGA-HC-7078-01A-11D-2114-08	30735910	64622147	70384369	27	7585											
MYO7A	4647	broad.mit.edu	37	chr11	76893185	76893185	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactgctctaccatgacgaCgagggtgaccagctggtaag	10	7	12	12	2	1	2	0	2	1	0	1	4	1	2	3	2	3	3	3	2	2	2			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr11:76893185C>T	ENST00000409709.3	+	24	3365	c.3093C>T	c.(3091-3093)gaC>gaT	p.D1031D	MYO7A_ENST00000458637.2_Silent_p.D1031D|MYO7A_ENST00000409619.2_Silent_p.D1020D|MYO7A_ENST00000409893.1_Silent_p.D1031D	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1031	MyTH4 1.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						ACCATGACGACGAGGGTGACC	0.602													5	118					0	0	1	0	0	T	76893185	C	T	76893185	2	4	161	1	0	0	0	0	0	0	0	1	10130	535	19	1		1	MYO7A	11	76893185	Silent	SNP	C	TCGA-HC-7078-01A-11D-2114-08	12271038	76893185	58113331	28	7586											
EMG1	10436	broad.mit.edu	37	chr12	7080212	7080213	+	RNA	INS	-	-	C																															acaagatcggaggccgtagtINSttattgtggtgctggaaggg																								rs36063533		TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr12:7080212_7080213insC	ENST00000546220.1	+	0	157_158				U47924.28_ENST00000261406.6_lincRNA|U47924.19_ENST00000564245.1_RNA			Q92979	NEP1_HUMAN	EMG1 N1-specific pseudouridine methyltransferase						ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										GAGGCCGTAGTTTATTGTGGTG	0.569													11	13	---	---	---	---						C	7080213	-	C	7080212	6	5	161	0	1	1	1	0	0	0	0	0	5118	1722	60	0		0	EMG1	12	7080212	RNA	INS	-	TCGA-HC-7078-01A-11D-2114-08		7080212	126771683	29	7587											
ETV6	2120	broad.mit.edu	37	chr12	12037452	12037452	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaaacttcatccgatgggaGgacaaagaatccaaaatatt	18	8	8	7	1	1	1	1	0	0	1	3	5	3	3	2	2	1	0	2	2	7	3			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr12:12037452G>A	ENST00000396373.4	+	6	1357	c.1083G>A	c.(1081-1083)gaG>gaA	p.E361E		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	361						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				TCCGATGGGAGGACAAAGAAT	0.463			T	"NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"	"congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"								3	116					0	0	1	0	0	A	12037452	G	A	12037452	2	1	161	1	0	0	0	0	0	0	0	1	5311	991	35	2		2	ETV6	12	12037452	Silent	SNP	G	TCGA-HC-7078-01A-11D-2114-08	4957240	12037452	121814443	30	7588											
KRT5	3852	broad.mit.edu	37	chr12	52912785	52912785	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctcagctctgagtccaggcGgccccgttcccccacgatgc	5	8	10	18	3	2	1	1	1	2	0	5	2	4	1	5	2	2	2	5	2	0	1			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr12:52912785G>A	ENST00000252242.4	-	2	1105	c.715C>T	c.(715-717)Cgc>Tgc	p.R239C		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	239	Coil 1B.|Rod.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		GAGTCCAGGCGGCCCCGTTCC	0.587													6	272					0	0	1	0	0	A	52912785	G	A	52912785	3	1	161	1	0	0	0	0	1	0	0	0	8522	1116	39	1	1089	1	KRT5	12	52912785	Missense_Mutation	SNP	G	TCGA-HC-7078-01A-11D-2114-08	40875333	52912785	80939110	31	7589											
TXNRD1	7296	broad.mit.edu	37	chr12	104742131	104742131	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgctttctcttcccctgcagGtattcacaacattgtctgtg	6	16	7	12	0	3	0	1	0	2	0	5	0	4	0	2	1	3	3	2	1	2	5			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr12:104742131G>T	ENST00000526691.1	+	15	2044	c.1587_splice	c.e15-1	p.V530_splice	TXNRD1_ENST00000429002.2_Splice_Site_p.V628_splice|TXNRD1_ENST00000540716.1_Splice_Site_p.V440_splice|TXNRD1_ENST00000526950.1_Splice_Site_p.V547_splice|TXNRD1_ENST00000388854.3_Splice_Site_p.V530_splice|TXNRD1_ENST00000378070.4_3'UTR|TXNRD1_ENST00000503506.2_Splice_Site_p.V478_splice|TXNRD1_ENST00000529546.1_Splice_Site_p.V440_splice|TXNRD1_ENST00000542918.1_Splice_Site_p.V528_splice|TXNRD1_ENST00000526390.1_Splice_Site_p.V522_splice|TXNRD1_ENST00000524698.1_Splice_Site_p.V478_splice|TXNRD1_ENST00000354940.6_Splice_Site_p.V478_splice|TXNRD1_ENST00000525566.1_Splice_Site_p.V628_splice|TXNRD1_ENST00000397736.2_Splice_Site_p.V522_splice|TXNRD1_ENST00000427956.1_Splice_Site_p.V593_splice	NM_001261445.1|NM_003330.3	NP_001248374.1|NP_003321.3	Q16881	TRXR1_HUMAN	thioredoxin reductase 1	628					cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						TCCCCTGCAGGTATTCACAAC	0.498													63	119					3.54697e-40	3.82847e-40	1	1	0	T	104742131	G	T	104742131	5	4	161	1	0	0	0	0	0	0	1	0	16869	1275	44	4	1962	4	TXNRD1	12	104742131	Splice_Site	SNP	G	TCGA-HC-7078-01A-11D-2114-08	51829346	104742131	29109764	32	7590											
TRPV4	59341	broad.mit.edu	37	chr12	110230500	110230500	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccgtcagcttcagcccaCgggtgaagtaaagggcattc	9	8	11	13	2	2	1	2	1	0	0	4	1	3	1	3	2	2	3	3	2	3	3	rs77975504		TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr12:110230500C>T	ENST00000418703.2	-	10	1875	c.1781G>A	c.(1780-1782)cGt>cAt	p.R594H	TRPV4_ENST00000544971.1_Missense_Mutation_p.R487H|TRPV4_ENST00000536838.1_Missense_Mutation_p.R560H|TRPV4_ENST00000537083.1_Missense_Mutation_p.R534H|TRPV4_ENST00000392719.2_Missense_Mutation_p.R547H|TRPV4_ENST00000346520.2_Missense_Mutation_p.R534H|TRPV4_ENST00000541794.1_Missense_Mutation_p.R547H|TRPV4_ENST00000261740.2_Missense_Mutation_p.R594H	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	594			R -> H (in SMDK and PSTD).		actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						CTTCAGCCCACGGGTGAAGTA	0.592													3	60					0	0	1	0	0	T	110230500	C	T	110230500	3	4	161	1	0	0	0	0	1	0	0	0	16659	536	19	1	858	1	TRPV4	12	110230500	Missense_Mutation	SNP	C	TCGA-HC-7078-01A-11D-2114-08	5488369	110230500	23621395	33	7591											
DOCK9	23348	broad.mit.edu	37	chr13	99457438	99457438	+	Frame_Shift_Del	DEL	T	T	-																															tcacctggatgtatgcatacTtagaatccagatccttaggg																										TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr13:99457438delT	ENST00000376460.1	-	52	5662	c.5582delA	c.(5581-5583)agfs	p.K1861fs	DOCK9_ENST00000339416.2_Frame_Shift_Del_p.K1848fs	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1862	DHR-2.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GTATGCATACTTAGAATCCAG	0.438													2	4	---	---	---	---						-	99457438	T	-	99457438	7	5	161	1	0	1	0	1	0	0	0	0	4721	1609	56	0	648	0	DOCK9	13	99457438	Frame_Shift_Del	DEL	T	TCGA-HC-7078-01A-11D-2114-08		99457438	15712440	34	7592											
ADCY4	196883	broad.mit.edu	37	chr14	24789053	24789053	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgaagtctgggactgaggcGaagaggacacaaacgcattc	13	7	13	8	2	1	3	0	2	1	1	2	6	1	5	0	3	1	1	0	3	3	2			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr14:24789053G>A	ENST00000310677.4	-	22	2741	c.2628C>T	c.(2626-2628)ttC>ttT	p.F876F	ADCY4_ENST00000554068.2_Silent_p.F876F|ADCY4_ENST00000418030.2_Silent_p.F876F	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	876					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		GGACTGAGGCGAAGAGGACAC	0.498													27	64					0	0	1	0	0	A	24789053	G	A	24789053	2	1	161	1	0	0	0	0	0	0	0	1	295	1049	37	1		1	ADCY4	14	24789053	Silent	SNP	G	TCGA-HC-7078-01A-11D-2114-08		24789053	82560487	35	7593											
CYFIP1	23191	broad.mit.edu	37	chr15	22945111	22945111	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcaagctcttcgacctggcGctgcagggcctgcagctgtt	5	9	13	14	3	1	0	0	0	1	0	2	1	1	0	2	2	4	7	2	2	1	2			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr15:22945111G>A	ENST00000313077.7	+	12	1307	c.1182G>A	c.(1180-1182)gcG>gcA	p.A394A	CYFIP1_ENST00000560848.1_Silent_p.A394A	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	394					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		TCGACCTGGCGCTGCAGGGCC	0.706													11	16					0	0	1	0	0	A	22945111	G	A	22945111	2	1	161	1	0	0	0	0	0	0	0	1	4160	1074	38	1		1	CYFIP1	15	22945111	Silent	SNP	G	TCGA-HC-7078-01A-11D-2114-08		22945111	79586281	36	7594											
MSLNL	401827	broad.mit.edu	37	chr16	830799	830799	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taggtgacggtgtgcacgggTaggtgacagctgtgtgcacg	7	9	18	7	3	0	2	0	2	0	0	0	2	0	2	0	4	3	4	0	4	2	2			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr16:830799T>G	ENST00000293892.3	-	3	201	c.202A>C	c.(202-204)Acc>Ccc	p.T68P	MSLNL_ENST00000442466.1_Intron			Q96KJ4	MSLNL_HUMAN	mesothelin-like	0					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						TGTGCACGGGTAGGTGACAGC	0.592													5	261					0	0	1	0	0	G	830799	T	G	830799	3	3	161	1	0	0	0	0	1	0	0	0	9930	1638	57	5	3015	5	MSLNL	16	830799	Missense_Mutation	SNP	T	TCGA-HC-7078-01A-11D-2114-08		830799	89523954	37	7595											
EDC4	23644	broad.mit.edu	37	chr16	67913767	67913769	+	In_Frame_Del	DEL	CAG	CAG	-																															ccccagatcactgcctctccCagcagcagcagcagcggtag																										TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr16:67913767_67913769delCAG	ENST00000358933.5	+	16	2075_2077	c.1836_1838delCAG	c.(1834-1839)ccc>cc	p.PS612del		NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	612	Ser-rich.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CTGCCTCTCCcagcagcagcagc	0.611													7	91	---	---	---	---						-	67913769	CAG	-	67913767	7	5	161	1	0	1	0	1	0	0	0	0	4934	581	21	0	1898	0	EDC4	16	67913767	In_Frame_Del	DEL	CAG	TCGA-HC-7078-01A-11D-2114-08	67082968	67913767	22440986	38	7596											
CACNB1	782	broad.mit.edu	37	chr17	37334247	37334247	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcactcacaggggggcacTgtgccagcttttccgaggcc	7	7	14	13	1	1	0	1	0	0	0	2	1	2	0	3	5	2	3	3	5	0	2			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr17:37334247T>C	ENST00000394303.3	-	12	1343	c.1136A>G	c.(1135-1137)cAg>cGg	p.Q379R	CACNB1_ENST00000344140.5_Missense_Mutation_p.Q424R|CACNB1_ENST00000394310.3_Missense_Mutation_p.Q379R	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	379					axon guidance	voltage-gated calcium channel complex				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)	AGGGGGGCACTGTGCCAGCTT	0.542													61	123					0	0	1	0	0	C	37334247	T	C	37334247	3	2	161	1	0	0	0	0	1	0	0	0	2570	1580	55	3	777	3	CACNB1	17	37334247	Missense_Mutation	SNP	T	TCGA-HC-7078-01A-11D-2114-08		37334247	43860963	39	7597											
RECQL5	9400	broad.mit.edu	37	chr17	73627271	73627271	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctgatagaagaggttccactCccgcttgtgggcctcatctc	7	11	10	13	1	2	3	1	1	1	2	5	3	4	3	3	2	0	2	3	2	2	3			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr17:73627271C>G	ENST00000317905.5	-	10	1666	c.1507G>C	c.(1507-1509)Gag>Cag	p.E503Q	RECQL5_ENST00000423245.2_Missense_Mutation_p.E476Q|RECQL5_ENST00000443199.2_5'UTR	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	503					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			AGGTTCCACTCCCGCTTGTGG	0.647								Other identified genes with known or suspected DNA repair function					43	71					0	0	1	0	0	G	73627271	C	G	73627271	3	3	161	1	0	0	0	0	1	0	0	0	13255	864	30	4	1512	4	RECQL5	17	73627271	Missense_Mutation	SNP	C	TCGA-HC-7078-01A-11D-2114-08	36293024	73627271	7567939	40	7598											
SMAD2	4087	broad.mit.edu	37	chr18	45368305	45368305	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcaatccagcaaggagtacTtgttaccgtctgccttctgt	8	14	8	11	1	3	0	1	0	2	0	4	1	4	1	3	1	4	3	3	1	4	5			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr18:45368305T>C	ENST00000402690.2	-	11	1691	c.1297A>G	c.(1297-1299)Agt>Ggt	p.S433G	SMAD2_ENST00000356825.4_Missense_Mutation_p.S403G|SMAD2_ENST00000586040.1_Missense_Mutation_p.S403G|SMAD2_ENST00000262160.6_Missense_Mutation_p.S433G	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	433	MH2.				anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						CAAGGAGTACTTGTTACCGTC	0.413													18	10					0	0	1	0	0	C	45368305	T	C	45368305	3	2	161	1	0	0	0	0	1	0	0	0	14812	1609	56	3	110	3	SMAD2	18	45368305	Missense_Mutation	SNP	T	TCGA-HC-7078-01A-11D-2114-08		45368305	32708943	41	7599											
SPPL2B	56928	broad.mit.edu	37	chr19	2345262	2345262	+	RNA	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctcccccagggctgctggtgGcctactgccacaggtttgac	5	9	12	15	0	0	1	0	1	0	0	1	1	1	1	4	4	3	3	4	4	1	2			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr19:2345262G>C	ENST00000452401.2	+	0	1365				AC005258.3_ENST00000590001.1_RNA			Q8TCT7	PSL1_HUMAN	signal peptide peptidase like 2B							Golgi membrane|integral to membrane	aspartic-type endopeptidase activity						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGCTGGTGGCCTACTGCCA	0.667													30	50					0	0	1	0	0	C	2345262	G	C	2345262	1	2	161	0	1	0	0	0	0	0	0	0	15145	1203	42	4		4	SPPL2B	19	2345262	RNA	SNP	G	TCGA-HC-7078-01A-11D-2114-08		2345262	56783721	42	7600											
LRG1	116844	broad.mit.edu	37	chr19	4538288	4538288	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaagaggtagcgcaggtcCggctgcggcaagaggagatc	11	4	18	8	3	0	3	0	0	0	3	2	5	1	4	1	6	2	4	1	6	3	1			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr19:4538288C>T	ENST00000306390.6	-	2	1168	c.708G>A	c.(706-708)ccG>ccA	p.P236P	CTB-50L17.14_ENST00000586020.1_Intron	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	236						extracellular region|membrane				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCGCAGGTCCGGCTGCGGCA	0.587													43	418					0	0	1	0	0	T	4538288	C	T	4538288	2	4	161	1	0	0	0	0	0	0	0	1	8987	639	23	1		1	LRG1	19	4538288	Silent	SNP	C	TCGA-HC-7078-01A-11D-2114-08	2193026	4538288	54590695	43	7601											
PBX4	80714	broad.mit.edu	37	chr19	19729403	19729403	+	Frame_Shift_Del	DEL	G	G	-																															gtgtcgaggcgccgcggggcGgggggcgatggcgcggggcg																										TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr19:19729403delG	ENST00000251203.8	-	1	322	c.36delC	c.(34-36)ccfs	p.P12fs		NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN	pre-B-cell leukemia homeobox 4	12							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						gccgcggggcggggggcgatg	0.766													2	4	---	---	---	---						-	19729403	G	-	19729403	7	5	161	1	0	1	0	1	0	0	0	0	11542	1103	39	0	1120	0	PBX4	19	19729403	Frame_Shift_Del	DEL	G	TCGA-HC-7078-01A-11D-2114-08	15191115	19729403	39399580	44	7602											
ZNF91	7644	broad.mit.edu	37	chr19	23543401	23543401	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acatttgtagggcttctctcCagtgtgtatcctcttatgtc	6	17	8	10	0	2	0	0	0	2	0	6	0	4	0	2	1	0	3	2	1	3	5			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr19:23543401C>A	ENST00000300619.7	-	4	2585	c.2380G>T	c.(2380-2382)Gga>Tga	p.G794*	ZNF91_ENST00000397082.2_Nonsense_Mutation_p.G762*|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	794						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GGCTTCTCTCCAGTGTGTATC	0.383													22	60					7.38237e-10	7.60608e-10	1	1	0	A	23543401	C	A	23543401	4	1	161	1	0	0	0	0	0	1	0	0	18242	603	21	4	1199	4	ZNF91	19	23543401	Nonsense_Mutation	SNP	C	TCGA-HC-7078-01A-11D-2114-08	3813998	23543401	35585582	45	7603											
ZNF546	339327	broad.mit.edu	37	chr19	40520472	40520472	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcagaacttgctcgacatcGtagaattcatactggtgaga	12	11	10	8	2	1	3	1	1	0	3	3	5	1	3	0	1	4	3	0	1	4	4			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr19:40520472G>A	ENST00000347077.4	+	7	1511	c.1295G>A	c.(1294-1296)cGt>cAt	p.R432H	ZNF546_ENST00000600094.1_Missense_Mutation_p.R406H|ZNF546_ENST00000596894.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	432					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GCTCGACATCGTAGAATTCAT	0.388													16	9					0	0	1	0	0	A	40520472	G	A	40520472	3	1	161	1	0	0	0	0	1	0	0	0	18035	1145	40	1	1313	1	ZNF546	19	40520472	Missense_Mutation	SNP	G	TCGA-HC-7078-01A-11D-2114-08	16977071	40520472	18608511	46	7604											
TMEM145	284339	broad.mit.edu	37	chr19	42820687	42820687	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaatatgccaccgatggcaTtggcaacgagagtgtgaaga	13	8	12	8	2	1	3	1	1	0	2	1	5	1	3	2	2	2	2	2	2	4	2			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr19:42820687T>C	ENST00000598766.1	+	9	773	c.773T>C	c.(772-774)aTt>aCt	p.I258T	TMEM145_ENST00000301204.3_Missense_Mutation_p.I234T			Q8NBT3	TM145_HUMAN	transmembrane protein 145	234						integral to membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				ACCGATGGCATTGGCAACGAG	0.552													11	81					0	0	1	0	0	C	42820687	T	C	42820687	3	2	161	1	0	0	0	0	1	0	0	0	16119	1493	52	3	735	3	TMEM145	19	42820687	Missense_Mutation	SNP	T	TCGA-HC-7078-01A-11D-2114-08	2300215	42820687	16308296	47	7605											
NAPSA	9476	broad.mit.edu	37	chr19	50864267	50864267	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtacatccatcgggggcCgaactccttccacagacaga	11	6	9	15	2	0	2	0	0	0	2	4	3	3	2	5	2	2	1	5	2	2	2			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr19:50864267C>T	ENST00000253719.2	-	5	807	c.599G>A	c.(598-600)cGg>cAg	p.R200Q	NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	200					proteolysis	extracellular region	aspartic-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		CATCGGGGGCCGAACTCCTTC	0.537													29	57					0	0	1	0	0	T	50864267	C	T	50864267	3	4	161	1	0	0	0	0	1	0	0	0	10214	652	23	1	683	1	NAPSA	19	50864267	Missense_Mutation	SNP	C	TCGA-HC-7078-01A-11D-2114-08	8043580	50864267	8264716	48	7606											
SIRPB1	10326	broad.mit.edu	37	chr20	1592215	1592215	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gattgtagattaattcccggCctggtccagctcctctgaac	8	12	9	12	1	1	2	0	1	1	1	4	3	4	2	4	2	2	2	4	2	3	4	rs41289057	by1000genomes	TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr20:1592215C>G	ENST00000279477.7	-	2	285	c.221G>C	c.(220-222)gGc>gCc	p.G74A	RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381605.4_Intron|SIRPB1_ENST00000381596.1_5'UTR|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.G74A	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	74	Ig-like V-type.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						TAATTCCCGGCCTGGTCCAGC	0.522													6	31					0	0	1	0	0	G	1592215	C	G	1592215	3	3	161	1	0	0	0	0	1	0	0	0	14388	739	26	4	2128	4	SIRPB1	20	1592215	Missense_Mutation	SNP	C	TCGA-HC-7078-01A-11D-2114-08		1592215	61433305	49	7607											
TMEM189	387521	broad.mit.edu	37	chr20	48699408	48699408	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggacaactttgatgctatatGaattctgccattttgctagc	10	15	8	8	0	1	2	0	2	1	0	1	3	1	3	1	1	5	2	1	1	5	7			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr20:48699408G>A	ENST00000557021.1	-	8	1170	c.1010C>T	c.(1009-1011)tCa>tTa	p.S337L	UBE2V1_ENST00000371674.3_Missense_Mutation_p.S114L|UBE2V1_ENST00000371657.5_Missense_Mutation_p.S72L|UBE2V1_ENST00000371677.3_Missense_Mutation_p.S137L|TMEM189-UBE2V1_ENST00000341698.2_Missense_Mutation_p.S337L|UBE2V1_ENST00000396059.3_5'UTR|UBE2V1_ENST00000340309.3_Missense_Mutation_p.S137L|UBE2V1_ENST00000420027.2_Missense_Mutation_p.S70L|UBE2V1_ENST00000415862.2_Missense_Mutation_p.S70L	NM_199203.2	NP_954673.1			transmembrane protein 189											breast(1)|endometrium(2)|large_intestine(3)|lung(2)	8			BRCA - Breast invasive adenocarcinoma(9;3.02e-07)			GATGCTATATGAATTCTGCCA	0.423													26	35					0	0	1	0	0	A	48699408	G	A	48699408	3	1	161	1	0	0	0	0	1	0	0	0	16171	1294	45	2		2	TMEM189	20	48699408	Missense_Mutation	SNP	G	TCGA-HC-7078-01A-11D-2114-08	47107193	48699408	14326112	50	7608											
CLTCL1	8218	broad.mit.edu	37	chr22	19209025	19209025	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attctctctcaggaagcactCggggctgttgttgctgtcga	6	13	12	10	2	2	0	1	0	2	0	6	2	2	1	0	3	2	5	0	3	1	3			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr22:19209025C>T	ENST00000263200.10	-	17	2743	c.2671G>A	c.(2671-2673)Gag>Aag	p.E891K	CLTCL1_ENST00000353891.5_Missense_Mutation_p.E891K|CLTCL1_ENST00000427926.1_Missense_Mutation_p.E891K	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	891	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					AGGAAGCACTCGGGGCTGTTG	0.577			T	?	ALCL								4	15					0	0	1	0	0	T	19209025	C	T	19209025	3	4	161	1	0	0	0	0	1	0	0	0	3590	893	31	1	2315	1	CLTCL1	22	19209025	Missense_Mutation	SNP	C	TCGA-HC-7078-01A-11D-2114-08		19209025	32095541	51	7609											
ZNF280B	140883	broad.mit.edu	37	chr22	22842418	22842418	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttgaaaattttgagacaaaAgggacaaagcaaattctttg	17	12	8	4	0	1	2	0	2	1	1	1	4	1	3	0	1	1	1	0	1	6	5			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr22:22842418A>G	ENST00000360412.2	-	4	2081	c.1306T>C	c.(1306-1308)Ttt>Ctt	p.F436L	ZNF280B_ENST00000406426.1_Missense_Mutation_p.F436L	NM_080764.2	NP_542942.1	Q86YH2	Z280B_HUMAN	zinc finger protein 280B	436					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TTGAGACAAAAGGGACAAAGC	0.428													3	109					0	0	1	0	0	G	22842418	A	G	22842418	3	3	161	1	0	0	0	0	1	0	0	0	17873	72	3	3	329	3	ZNF280B	22	22842418	Missense_Mutation	SNP	A	TCGA-HC-7078-01A-11D-2114-08	3633393	22842418	28462148	52	7610											
KCNJ4	3761	broad.mit.edu	37	chr22	38822859	38822859	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgggagggaagcctgcatgcGctccaggtccaggtggctgc	6	6	17	12	2	0	0	0	0	0	0	2	2	2	2	3	5	4	3	3	5	1	0			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chr22:38822859G>A	ENST00000303592.3	-	2	1537	c.1279C>T	c.(1279-1281)Cgc>Tgc	p.R427C	RP3-434P1.6_ENST00000433230.1_RNA	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	427					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					GCCTGCATGCGCTCCAGGTCC	0.692													65	129					0	0	1	0	0	A	38822859	G	A	38822859	3	1	161	1	0	0	0	0	1	0	0	0	8097	1087	38	1	62	1	KCNJ4	22	38822859	Missense_Mutation	SNP	G	TCGA-HC-7078-01A-11D-2114-08	15980441	38822859	12481707	53	7611											
SPANXD	64648	broad.mit.edu	37	chrX	140785743	140785743	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctggagatgttcttttaaagTtcctcctgtagcgaaccact	9	14	8	10	1	1	1	0	0	1	1	3	3	3	1	3	1	2	3	3	1	4	5			TCGA-HC-7078-01A-11D-2114-08	TCGA-HC-7078-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d31caea4-427d-4b58-8a66-08aa09f6d2ea	9f0ddd3a-9a58-4c8e-b5c0-756fac4c0c69	g.chrX:140785743T>A	ENST00000370515.3	-	2	506	c.173A>T	c.(172-174)aAc>aTc	p.N58I		NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1			SPANX family, member D											breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	Acute lymphoblastic leukemia(192;7.65e-05)					TCTTTTAAAGTTCCTCCTGTA	0.483													21	203					0	0	1	0	0	A	140785743	T	A	140785743	3	1	161	1	0	0	0	0	1	0	0	0	15044	1725	60	5	124	5	SPANXD	23	140785743	Missense_Mutation	SNP	T	TCGA-HC-7078-01A-11D-2114-08		140785743	14484817	54	7612											
RBM15	64783	broad.mit.edu	37	chr1	110882203	110882203	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgaaggccaaacgctcccGtggtggtgaggactcgactt	9	8	14	10	3	0	2	0	2	0	0	2	4	1	3	2	4	1	1	2	4	2	1			TCGA-HC-7079-01A-11D-1961-08	TCGA-HC-7079-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f1ca00a-84ba-4b26-a1a5-4d83c363ac69	c359bee4-8d3a-4855-a6b6-1e09aefd2b2e	g.chr1:110882203G>A	ENST00000369784.3	+	1	1076	c.176G>A	c.(175-177)cGt>cAt	p.R59H	RBM15_ENST00000487146.2_Missense_Mutation_p.R59H|RBM15_ENST00000602849.1_Missense_Mutation_p.R59H	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	59					interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		AAACGCTCCCGTGGTGGTGAG	0.647			T	MKL1	acute megakaryocytic leukemia								4	59					0	0	0.009096	0	0	A	110882203	G	A	110882203	3	1	162	1	0	0	0	0	1	0	0	0	13168	1145	40	1	178	1	RBM15	1	110882203	Missense_Mutation	SNP	G	TCGA-HC-7079-01A-11D-1961-08		110882203	138368418	1	7613											
LY9	4063	broad.mit.edu	37	chr1	160769618	160769618	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggttccgtgactctcccccTaaacatctcagtagacacag	10	9	8	14	1	2	2	1	1	2	1	5	2	3	2	3	1	1	2	3	1	3	3			TCGA-HC-7079-01A-11D-1961-08	TCGA-HC-7079-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f1ca00a-84ba-4b26-a1a5-4d83c363ac69	c359bee4-8d3a-4855-a6b6-1e09aefd2b2e	g.chr1:160769618T>C	ENST00000263285.5	+	2	230	c.200T>C	c.(199-201)cTa>cCa	p.L67P	LY9_ENST00000341032.4_Missense_Mutation_p.L67P|LY9_ENST00000368039.2_Missense_Mutation_p.L67P|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000368041.2_Missense_Mutation_p.L27P|LY9_ENST00000471816.1_3'UTR	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	67	Ig-like V-type 1.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			ACTCTCCCCCTAAACATCTCA	0.498													3	76					0	0	0.009096	0	0	C	160769618	T	C	160769618	3	2	162	1	0	0	0	0	1	0	0	0	9147	1522	53	3	206	3	LY9	1	160769618	Missense_Mutation	SNP	T	TCGA-HC-7079-01A-11D-1961-08	49887415	160769618	88481003	2	7614											
ZNF208	7757	broad.mit.edu	37	chr19	22156811	22156811	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctttgccacattctttacatTtgtagggcttctctccagca	7	16	6	12	0	2	0	0	0	2	0	4	0	3	0	2	1	3	3	2	1	2	7			TCGA-HC-7079-01A-11D-1961-08	TCGA-HC-7079-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f1ca00a-84ba-4b26-a1a5-4d83c363ac69	c359bee4-8d3a-4855-a6b6-1e09aefd2b2e	g.chr19:22156811T>C	ENST00000397126.4	-	4	1173	c.1025A>G	c.(1024-1026)aAa>aGa	p.K342R	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTCTTTACATTTGTAGGGCTT	0.403													4	30					0	0	0.000602	0	0	C	22156811	T	C	22156811	3	2	162	1	0	0	0	0	1	0	0	0	17824	1841	64	3	2821	3	ZNF208	19	22156811	Missense_Mutation	SNP	T	TCGA-HC-7079-01A-11D-1961-08		22156811	36972172	3	7615											
SEMG1	6406	broad.mit.edu	37	chr20	43836069	43836069	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaatttccacacggacaaaAgggccagcactattctggac	13	7	8	13	1	1	0	0	0	1	0	2	2	2	2	3	3	1	1	3	3	4	3			TCGA-HC-7079-01A-11D-1961-08	TCGA-HC-7079-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f1ca00a-84ba-4b26-a1a5-4d83c363ac69	c359bee4-8d3a-4855-a6b6-1e09aefd2b2e	g.chr20:43836069A>G	ENST00000372781.3	+	2	188	c.131A>G	c.(130-132)aAg>aGg	p.K44R	SEMG1_ENST00000244069.6_Missense_Mutation_p.K44R	NM_003007.3	NP_002998.1			semenogelin I											cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CACGGACAAAAGGGCCAGCAC	0.388													4	136					0	0	0.000602	0	0	G	43836069	A	G	43836069	3	3	162	1	0	0	0	0	1	0	0	0	14098	72	3	3	137	3	SEMG1	20	43836069	Missense_Mutation	SNP	A	TCGA-HC-7079-01A-11D-1961-08		43836069	19189451	4	7616											
GATA1	2623	broad.mit.edu	37	chrX	48650528	48650528	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatagtgcttatgggggcccTgacttttccagtaccttctt	7	15	9	10	0	1	1	0	1	1	0	2	1	2	1	3	2	2	2	3	2	4	7			TCGA-HC-7079-01A-11D-1961-08	TCGA-HC-7079-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f1ca00a-84ba-4b26-a1a5-4d83c363ac69	c359bee4-8d3a-4855-a6b6-1e09aefd2b2e	g.chrX:48650528T>C	ENST00000376670.3	+	3	609	c.498T>C	c.(496-498)ccT>ccC	p.P166P	GATA1_ENST00000376665.3_Silent_p.P166P	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	166					basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.?(2)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						ATGGGGGCCCTGACTTTTCCA	0.582			"Mis, F"		megakaryoblastic leukemia of Downs Syndrome								3	50					0	0	0.009096	0	0	C	48650528	T	C	48650528	2	2	162	1	0	0	0	0	0	0	0	1	6293	1567	55	3		3	GATA1	23	48650528	Silent	SNP	T	TCGA-HC-7079-01A-11D-1961-08		48650528	106620032	5	7617											
IQCC	55721	broad.mit.edu	37	chr1	32673327	32673327	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctgcactctatgaggacTcaaatattaaggagatgtct	12	13	9	7	0	4	2	1	1	3	1	4	4	4	3	0	2	1	1	0	2	4	3			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr1:32673327T>C	ENST00000537469.1	+	5	1332	c.1285T>C	c.(1285-1287)Tca>Cca	p.S429P	IQCC_ENST00000291358.6_Missense_Mutation_p.S349P	NM_001160042.1	NP_001153514.1	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	349										endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CTATGAGGACTCAAATATTAA	0.498													3	151					0	0	0.009096	0	0	C	32673327	T	C	32673327	3	2	163	1	0	0	0	0	1	0	0	0	7848	1551	54	3	1303	3	IQCC	1	32673327	Missense_Mutation	SNP	T	TCGA-HC-7080-01A-11D-1961-08		32673327	216577294	1	7618											
CD101	9398	broad.mit.edu	37	chr1	117552477	117552477	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctcctacttacaagctaagCtcagcattggccagagagaa	13	9	8	11	0	2	2	1	0	1	2	3	3	2	2	2	1	5	3	2	1	5	4			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr1:117552477C>T	ENST00000256652.4	+	2	107	c.49C>T	c.(49-51)Ctc>Ttc	p.L17F	CD101_ENST00000369470.1_Missense_Mutation_p.L17F	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	17					cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						ACAAGCTAAGCTCAGCATTGG	0.443													28	39					0	0	0.009535	0	0	T	117552477	C	T	117552477	3	4	163	1	0	0	0	0	1	0	0	0	2984	797	28	2	55	2	CD101	1	117552477	Missense_Mutation	SNP	C	TCGA-HC-7080-01A-11D-1961-08	84879150	117552477	131698144	2	7619											
LCE2B	26239	broad.mit.edu	37	chr1	152659383	152659383	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agtgtcctcccaagtgtaccCcaaaatgtccacctaagtgt	11	10	7	13	0	0	0	0	0	0	0	3	0	3	0	6	0	1	1	6	0	5	2	rs146504201		TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr1:152659383C>T	ENST00000368780.3	+	2	118	c.64C>T	c.(64-66)Cca>Tca	p.P22S	LCE2B_ENST00000417924.2_Missense_Mutation_p.P22S	NM_014357.4	NP_055172.1	O14633	LCE2B_HUMAN	late cornified envelope 2B	22	Cys-rich.|Pro-rich.				keratinization					endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	11	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAAGTGTACCCCAAAATGTCC	0.547													145	66					0	0	0.01441	0	0	T	152659383	C	T	152659383	3	4	163	1	0	0	0	0	1	0	0	0	8705	623	22	2	66	2	LCE2B	1	152659383	Missense_Mutation	SNP	C	TCGA-HC-7080-01A-11D-1961-08	35106906	152659383	96591238	3	7620											
CACNA1E	777	broad.mit.edu	37	chr1	181767512	181767512	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgtcggcagctcccacccGtcccgccaaagccccggccc	5	4	10	22	5	0	0	0	0	0	0	4	0	2	0	7	2	2	2	7	2	1	0			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr1:181767512G>A	ENST00000526775.1	+	46	6463	c.6298G>A	c.(6298-6300)Gtc>Atc	p.V2100I	CACNA1E_ENST00000367570.1_Missense_Mutation_p.V2119I|CACNA1E_ENST00000367567.4_Missense_Mutation_p.V1726I|CACNA1E_ENST00000358338.5_Missense_Mutation_p.V2051I|CACNA1E_ENST00000367573.2_Missense_Mutation_p.V2162I|CACNA1E_ENST00000357570.5_Missense_Mutation_p.V2113I|CACNA1E_ENST00000360108.3_Missense_Mutation_p.V2143I	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2162					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GCTCCCACCCGTCCCGCCAAA	0.627													51	21					0	0	0.01441	0	0	A	181767512	G	A	181767512	3	1	163	1	0	0	0	0	1	0	0	0	2560	1145	40	1	6541	1	CACNA1E	1	181767512	Missense_Mutation	SNP	G	TCGA-HC-7080-01A-11D-1961-08	29108129	181767512	67483109	4	7621											
LGR6	59352	broad.mit.edu	37	chr1	202205107	202205107	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaggcgctgtgggagctgccGagcctgcagtcgctgtgagt	5	8	18	10	3	0	1	0	1	0	0	1	4	0	2	2	2	4	4	2	2	0	0			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr1:202205107G>A	ENST00000367278.3	+	4	503	c.414G>A	c.(412-414)ccG>ccA	p.P138P	LGR6_ENST00000255432.7_Silent_p.P86P|LGR6_ENST00000439764.2_Silent_p.P95P	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	138						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GGGAGCTGCCGAGCCTGCAGT	0.607													5	67					0	0	0.001168	0	0	A	202205107	G	A	202205107	2	1	163	1	0	0	0	0	0	0	0	1	8798	1045	37	1		1	LGR6	1	202205107	Silent	SNP	G	TCGA-HC-7080-01A-11D-1961-08	20437595	202205107	47045514	5	7622											
SIPA1L2	57568	broad.mit.edu	37	chr1	232649979	232649979	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcctgtctggcccgtaggCatctgagtctgggatgctgc	4	12	14	11	1	3	1	0	1	3	0	3	2	3	2	2	3	3	3	2	3	1	2	rs113255944		TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr1:232649979C>T	ENST00000366630.1	-	2	1465	c.1107G>A	c.(1105-1107)atG>atA	p.M369I	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.M369I			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	369					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GGCCCGTAGGCATCTGAGTCT	0.507													6	139					0	0	0.001168	0	0	T	232649979	C	T	232649979	3	4	163	1	0	0	0	0	1	0	0	0	14385	710	25	2	4145	2	SIPA1L2	1	232649979	Missense_Mutation	SNP	C	TCGA-HC-7080-01A-11D-1961-08	30444872	232649979	16600642	6	7623											
AFF3	3899	broad.mit.edu	37	chr2	100203740	100203740	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagtcgtcttcgttgtcacActgtatgggaataaactaaa	12	13	9	7	2	2	0	1	0	1	0	4	1	2	1	0	1	1	3	0	1	7	6			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr2:100203740A>G	ENST00000317233.4	-	15	2702	c.2466_splice	c.e15-1	p.C823_splice	AFF3_ENST00000409236.1_Splice_Site_p.C823_splice|AFF3_ENST00000356421.2_Splice_Site_p.C848_splice|AFF3_ENST00000409579.1_Splice_Site_p.C848_splice	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	823					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TCGTTGTCACACTGTATGGGA	0.493													66	95					0	0	0.01441	0	0	G	100203740	A	G	100203740	5	3	163	1	0	0	0	0	0	0	1	0	357	173	6	3	1253	3	AFF3	2	100203740	Splice_Site	SNP	A	TCGA-HC-7080-01A-11D-1961-08		100203740	142995633	7	7624											
SSB	6741	broad.mit.edu	37	chr2	170667531	170667531	+	Frame_Shift_Del	DEL	C	C	-																															aatagaagaccaacaagaatCcctaaacaaatggaagtcaa																										TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr2:170667531delC	ENST00000409333.1	+	10	1221	c.974delC	c.(973-975)tcfs	p.S325fs	SSB_ENST00000260956.4_Frame_Shift_Del_p.S325fs|METTL5_ENST00000409837.1_Intron			P05455	LA_HUMAN	Sjogren syndrome antigen B (autoantigen La)	325					histone mRNA metabolic process|tRNA modification	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding|tRNA binding			endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						CAACAAGAATCCCTAAACAAA	0.343													23	10	---	---	---	---						-	170667531	C	-	170667531	7	5	163	1	0	1	0	1	0	0	0	0	15234	855	30	0	1008	0	SSB	2	170667531	Frame_Shift_Del	DEL	C	TCGA-HC-7080-01A-11D-1961-08	70463791	170667531	72531842	8	7625											
SF3B1	23451	broad.mit.edu	37	chr2	198267739	198267739	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taatcttcatcaatcaatagCggttcaatgaccacgaggat	14	11	7	9	2	5	1	4	1	1	0	5	3	5	2	1	2	1	1	1	2	5	4			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr2:198267739C>T	ENST00000335508.5	-	13	1831	c.1740G>A	c.(1738-1740)ccG>ccA	p.P580P		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	580					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CAATCAATAGCGGTTCAATGA	0.333			Mis		myelodysplastic syndrome								30	39					0	0	0.013726	0	0	T	198267739	C	T	198267739	2	4	163	1	0	0	0	0	0	0	0	1	14203	755	27	1		1	SF3B1	2	198267739	Silent	SNP	C	TCGA-HC-7080-01A-11D-1961-08	27600208	198267739	44931634	9	7626											
LRRFIP1	9208	broad.mit.edu	37	chr2	238671963	238671963	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaggaagcgacaggtccaaGtacagtagacactcaaaatg	16	6	10	9	1	2	1	2	0	0	1	3	3	3	2	1	2	2	2	1	2	6	2			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr2:238671963G>A	ENST00000244815.5	+	10	1775	c.1535G>A	c.(1534-1536)aGt>aAt	p.S512N	LRRFIP1_ENST00000289175.6_Missense_Mutation_p.S480N|LRRFIP1_ENST00000308482.9_Intron|LRRFIP1_ENST00000392000.4_Missense_Mutation_p.S536N	NM_004735.3	NP_004726.2	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	536	DNA-binding.				negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		ACAGGTCCAAGTACAGTAGAC	0.473													50	70					0	0	0.01441	0	0	A	238671963	G	A	238671963	3	1	163	1	0	0	0	0	1	0	0	0	9072	1029	36	2	2325	2	LRRFIP1	2	238671963	Missense_Mutation	SNP	G	TCGA-HC-7080-01A-11D-1961-08	40404224	238671963	4527410	10	7627											
WNT7A	7476	broad.mit.edu	37	chr3	13896275	13896275	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgccggcggcaatgatggcGtaggtgaacgcagcctcccg	8	5	15	13	6	0	2	0	2	0	0	1	2	1	2	3	4	2	3	3	4	3	1			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr3:13896275G>A	ENST00000285018.4	-	3	628	c.324C>T	c.(322-324)taC>taT	p.Y108Y		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	108					activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						CAATGATGGCGTAGGTGAACG	0.627													57	62					0	0	0.01441	0	0	A	13896275	G	A	13896275	2	1	163	1	0	0	0	0	0	0	0	1	17454	1140	40	1		1	WNT7A	3	13896275	Silent	SNP	G	TCGA-HC-7080-01A-11D-1961-08		13896275	184126155	11	7628											
LTF	4057	broad.mit.edu	37	chr3	46491405	46491405	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggtacagcccagaatctatCctcgggggcaccctcgaaaa	12	6	10	13	2	1	1	0	0	1	1	4	2	2	1	3	3	2	2	3	3	5	2			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr3:46491405C>A	ENST00000231751.4	-	8	1291	c.996G>T	c.(994-996)agG>agT	p.R332S	LTF_ENST00000426532.2_Missense_Mutation_p.R288S|LTF_ENST00000417439.1_Missense_Mutation_p.R332S	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	332	Transferrin-like 1.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	CAGAATCTATCCTCGGGGGCA	0.557													30	26					2.70662e-09	1.05891e-08	0.009535	1	0	A	46491405	C	A	46491405	3	1	163	1	0	0	0	0	1	0	0	0	9124	854	30	4	1176	4	LTF	3	46491405	Missense_Mutation	SNP	C	TCGA-HC-7080-01A-11D-1961-08	32595130	46491405	151531025	12	7629											
BBX	56987	broad.mit.edu	37	chr3	107491592	107491592	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggaagaaaaagaaattaaaAtggagaaaacagatgaaact	25	5	9	2	0	0	5	0	1	0	4	0	7	0	6	0	2	2	0	0	2	9	1			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr3:107491592A>G	ENST00000415149.2	+	11	1351	c.1024A>G	c.(1024-1026)Atg>Gtg	p.M342V	BBX_ENST00000406780.1_Missense_Mutation_p.M342V|BBX_ENST00000416476.2_Intron|BBX_ENST00000402543.1_Missense_Mutation_p.M342V|BBX_ENST00000325805.8_Missense_Mutation_p.M342V	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	342					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			AGAAATTAAAATGGAGAAAAC	0.323													82	101					0	0	0.01441	0	0	G	107491592	A	G	107491592	3	3	163	1	0	0	0	0	1	0	0	0	1341	101	4	3	1054	3	BBX	3	107491592	Missense_Mutation	SNP	A	TCGA-HC-7080-01A-11D-1961-08	61000187	107491592	90530838	13	7630											
TRIML1	339976	broad.mit.edu	37	chr4	189061023	189061023	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgcccaccactgccaaggCgctctccgatgacgagcagg	9	5	12	15	3	1	1	0	1	1	0	2	4	1	1	4	2	3	2	4	2	1	0			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr4:189061023C>T	ENST00000332517.3	+	1	451	c.311C>T	c.(310-312)gCg>gTg	p.A104V		NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	104					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		ACTGCCAAGGCGCTCTCCGAT	0.642													18	33					0	0	0.006122	0	0	T	189061023	C	T	189061023	3	4	163	1	0	0	0	0	1	0	0	0	16611	768	27	1	313	1	TRIML1	4	189061023	Missense_Mutation	SNP	C	TCGA-HC-7080-01A-11D-1961-08		189061023	2093253	14	7631											
PCDHA9	0	broad.mit.edu	37	chr5	140229692	140229692	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacagttccaggtgagcgcgCgcgacgcgggcgtgccgcct	5	6	16	14	8	0	1	0	1	0	0	1	2	1	1	3	2	3	1	3	2	1	2			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr5:140229692C>T	ENST00000378122.3	+	1	2336	c.1612C>T	c.(1612-1614)Cgc>Tgc	p.R538C	PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.R538C|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGAGCGCGCGCGACGCGGG	0.667													105	129					0	0	0.01441	0	0	T	140229692	C	T	140229692	3	4	163	1	0	0	0	0	1	0	0	0	11578	768	27	1	1614	1	PCDHA9	5	140229692	Missense_Mutation	SNP	C	TCGA-HC-7080-01A-11D-1961-08		140229692	40685568	15	7632											
CAGE1	285782	broad.mit.edu	37	chr6	7373784	7373784	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgcatttcagtcatgtacCtttcctgtaaacacacataa	12	14	5	10	0	2	0	2	0	0	0	3	0	3	0	2	0	3	4	2	0	4	6			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr6:7373784C>T	ENST00000502583.1	-	5	1832	c.1268G>A	c.(1267-1269)aGg>aAg	p.R423K	CAGE1_ENST00000379918.4_Missense_Mutation_p.R423K|CAGE1_ENST00000338150.4_Missense_Mutation_p.R423K|CAGE1_ENST00000512086.1_Missense_Mutation_p.R423K|CAGE1_ENST00000296742.7_Missense_Mutation_p.R287K	NM_001170692.1	NP_001164163.1	Q8TC20	CAGE1_HUMAN	cancer antigen 1	423										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					AGTCATGTACCTTTCCTGTAA	0.348													43	50					0	0	0.00874	0	0	T	7373784	C	T	7373784	3	4	163	1	0	0	0	0	1	0	0	0	2590	681	24	2	1397	2	CAGE1	6	7373784	Missense_Mutation	SNP	C	TCGA-HC-7080-01A-11D-1961-08		7373784	163741283	16	7633											
BCLAF1	9774	broad.mit.edu	37	chr6	136599103	136599103	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttggagcattctgtggtgCgattgtctttgcaggacttc	5	16	12	8	1	3	0	0	0	3	0	4	3	3	2	0	3	3	2	0	3	0	5			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr6:136599103C>T	ENST00000531224.1	-	4	1168	c.916G>A	c.(916-918)Gca>Aca	p.A306T	BCLAF1_ENST00000527536.1_Missense_Mutation_p.A306T|BCLAF1_ENST00000527759.1_Missense_Mutation_p.A304T|BCLAF1_ENST00000353331.4_Missense_Mutation_p.A304T|BCLAF1_ENST00000392348.2_Missense_Mutation_p.A304T|BCLAF1_ENST00000530767.1_Missense_Mutation_p.A306T	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	306					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	p.A306S(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TTCTGTGGTGCGATTGTCTTT	0.458													24	130					0	0	0.004656	0	0	T	136599103	C	T	136599103	3	4	163	1	0	0	0	0	1	0	0	0	1381	768	27	1	1886	1	BCLAF1	6	136599103	Missense_Mutation	SNP	C	TCGA-HC-7080-01A-11D-1961-08	129225319	136599103	34515964	17	7634											
CPNE3	8895	broad.mit.edu	37	chr8	87549807	87549807	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaggatctatttggaaagtCagacccatacctggaattcc	12	11	9	9	0	2	1	1	0	1	1	3	4	3	4	3	3	1	1	3	3	5	5			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr8:87549807C>A	ENST00000521271.1	+	7	638	c.476C>A	c.(475-477)tCa>tAa	p.S159*	CPNE3_ENST00000198765.4_Nonsense_Mutation_p.S159*	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN	copine III	159	C2 2.				lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						TTTGGAAAGTCAGACCCATAC	0.403													28	43					7.01153e-11	2.79209e-10	0.007291	1	0	A	87549807	C	A	87549807	4	1	163	1	0	0	0	0	0	1	0	0	3836	838	29	4	494	4	CPNE3	8	87549807	Nonsense_Mutation	SNP	C	TCGA-HC-7080-01A-11D-1961-08		87549807	58814215	18	7635											
LCN9	392399	broad.mit.edu	37	chr9	138557738	138557738	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaagcattacaggagcccGcccaggcctcccatgcgtga	9	6	10	16	2	0	1	0	1	0	0	2	2	2	2	5	2	4	1	5	2	2	1			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr9:138557738G>A	ENST00000277526.3	+	6	507	c.507G>A	c.(505-507)ccG>ccA	p.P169P	LCN9_ENST00000430290.2_3'UTR	NM_001001676.1	NP_001001676.1	Q8WX39	LCN9_HUMAN	lipocalin 9	169						extracellular region	pheromone binding|transporter activity			kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	6		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05)		ACAGGAGCCCGCCCAGGCCTC	0.687													9	12					0	0	0.008291	0	0	A	138557738	G	A	138557738	2	1	163	1	0	0	0	0	0	0	0	1	8726	1074	38	1		1	LCN9	9	138557738	Silent	SNP	G	TCGA-HC-7080-01A-11D-1961-08		138557738	2655693	19	7636											
WAC	51322	broad.mit.edu	37	chr10	28822945	28822945	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agctgtcacgaccggaggggGgactcgcagccttaccaggt	8	6	15	12	3	1	0	1	0	0	0	2	3	1	2	3	5	3	2	3	5	1	1			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr10:28822945G>A	ENST00000354911.4	+	2	221	c.60G>A	c.(58-60)ggG>ggA	p.G20G	WAC_ENST00000532233.1_3'UTR|WAC_ENST00000375664.3_5'UTR|WAC_ENST00000375646.1_5'UTR|WAC_ENST00000428935.1_5'UTR|WAC_ENST00000347934.4_Silent_p.G20G	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	20					cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						ACCGGAGGGGGGACTCGCAGC	0.677													4	89					0	0	0.000602	0	0	A	28822945	G	A	28822945	2	1	163	1	0	0	0	0	0	0	0	1	17307	1219	43	2		2	WAC	10	28822945	Silent	SNP	G	TCGA-HC-7080-01A-11D-1961-08		28822945	106711802	20	7637											
UNC5B	219699	broad.mit.edu	37	chr10	73047379	73047379	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcggctggtccagctgggCagagtggtcaccctgctcca	5	8	15	13	1	1	1	1	0	0	1	3	1	3	1	3	5	2	4	3	5	0	0			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr10:73047379C>T	ENST00000335350.6	+	6	1174	c.758C>T	c.(757-759)gCa>gTa	p.A253V	UNC5B_ENST00000373192.4_Missense_Mutation_p.A253V	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	253	TSP type-1 1.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						TCCAGCTGGGCAGAGTGGTCA	0.667													42	68					0	0	0.013114	0	0	T	73047379	C	T	73047379	3	4	163	1	0	0	0	0	1	0	0	0	17052	710	25	2	780	2	UNC5B	10	73047379	Missense_Mutation	SNP	C	TCGA-HC-7080-01A-11D-1961-08	44224434	73047379	62487368	21	7638											
PPRC1	23082	broad.mit.edu	37	chr10	103906651	103906651	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaccatgactattgtgtccGgagcaggacccccccaaaaa	12	6	10	13	1	0	1	0	1	0	0	1	4	1	4	5	3	1	1	5	3	3	2			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr10:103906651G>A	ENST00000278070.2	+	9	3941	c.3902G>A	c.(3901-3903)cGg>cAg	p.R1301Q	PPRC1_ENST00000370012.1_Missense_Mutation_p.R268Q|PPRC1_ENST00000489648.1_Intron|PPRC1_ENST00000413464.2_Intron	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1301					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		TATTGTGTCCGGAGCAGGACC	0.572													37	31					0	0	0.005524	0	0	A	103906651	G	A	103906651	3	1	163	1	0	0	0	0	1	0	0	0	12459	1116	39	1	3936	1	PPRC1	10	103906651	Missense_Mutation	SNP	G	TCGA-HC-7080-01A-11D-1961-08	30859272	103906651	31628096	22	7639											
HTRA1	5654	broad.mit.edu	37	chr10	124271537	124271537	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacttcccagacgtgatctcAggagcgtatataattgaagt	12	11	10	8	2	1	3	1	2	1	1	3	5	2	4	1	1	1	1	1	1	4	5			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr10:124271537A>G	ENST00000368984.3	+	8	1358	c.1230A>G	c.(1228-1230)tcA>tcG	p.S410S		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	410	PDZ.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				ACGTGATCTCAGGAGCGTATA	0.493													3	88					0	0	0.004672	0	0	G	124271537	A	G	124271537	2	3	163	1	0	0	0	0	0	0	0	1	7497	175	7	3		3	HTRA1	10	124271537	Silent	SNP	A	TCGA-HC-7080-01A-11D-1961-08	20364886	124271537	11263210	23	7640											
PHLDB1	23187	broad.mit.edu	37	chr11	118516357	118516357	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactcggcctgctcccctgaCaacatgtccaggtacacccg	9	7	8	17	2	0	1	0	1	0	0	3	1	2	1	5	2	4	2	5	2	3	1			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr11:118516357C>T	ENST00000361417.2	+	17	3816	c.3405C>T	c.(3403-3405)gaC>gaT	p.D1135D	PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000527898.1_Silent_p.D186D|PHLDB1_ENST00000356063.5_Silent_p.D1088D|PHLDB1_ENST00000524713.1_Silent_p.D278D	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	1135										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)		GCTCCCCTGACAACATGTCCA	0.642													34	54					0	0	0.012213	0	0	T	118516357	C	T	118516357	2	4	163	1	0	0	0	0	0	0	0	1	11899	477	17	2		2	PHLDB1	11	118516357	Silent	SNP	C	TCGA-HC-7080-01A-11D-1961-08		118516357	16490159	24	7641											
NINJ2	4815	broad.mit.edu	37	chr12	675072	675072	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggcctttctgccagccaCgggtgccgaggcagaaggtc	6	7	16	12	2	1	1	0	0	1	1	2	2	1	1	4	5	3	1	4	5	1	1			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr12:675072C>T	ENST00000433832.2	-	2	398	c.198G>A	c.(196-198)ccG>ccA	p.P66P	NINJ2_ENST00000397265.3_Intron|NINJ2_ENST00000542920.1_Intron|NINJ2_ENST00000537416.1_5'UTR|NINJ2_ENST00000305108.4_Intron			Q9NZG7	NINJ2_HUMAN	ninjurin 2	0					nervous system development|neuron cell-cell adhesion|tissue regeneration	integral to plasma membrane				large_intestine(3)|lung(1)|ovary(2)	6	all_cancers(10;0.0101)|all_epithelial(11;0.0174)|Ovarian(42;0.0512)|all_lung(10;0.103)|Lung NSC(10;0.185)		OV - Ovarian serous cystadenocarcinoma(31;3.26e-05)|BRCA - Breast invasive adenocarcinoma(9;0.0508)			CTGCCAGCCACGGGTGCCGAG	0.632													8	23					0	0	0.00308	0	0	T	675072	C	T	675072	2	4	163	1	0	0	0	0	0	0	0	1	10466	551	19	1		1	NINJ2	12	675072	Silent	SNP	C	TCGA-HC-7080-01A-11D-1961-08		675072	133176823	25	7642											
MCF2L	23263	broad.mit.edu	37	chr13	113732744	113732744	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cggagagggccctaccggagGgccaaggtgaggcttgccca	8	4	17	12	2	0	2	0	1	0	1	0	4	0	3	4	6	2	1	4	6	2	2			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr13:113732744G>A	ENST00000397030.1	+	14	1864	c.1827G>A	c.(1825-1827)agG>agA	p.R609R	MCF2L_ENST00000535094.2_Silent_p.R576R|MCF2L_ENST00000375608.3_Silent_p.R606R|MCF2L_ENST00000375604.2_Silent_p.R633R|MCF2L_ENST00000423482.2_Silent_p.R574R|MCF2L_ENST00000375601.3_Silent_p.R580R|MCF2L_ENST00000375597.4_Silent_p.R574R|MCF2L_ENST00000421756.1_Silent_p.R580R|MCF2L_ENST00000434480.2_Silent_p.R582R|MCF2L_ENST00000442652.2_Silent_p.R606R			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	606					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				CCTACCGGAGGGCCAAGGTGA	0.682													11	20					0	0	0.010729	0	0	A	113732744	G	A	113732744	2	1	163	1	0	0	0	0	0	0	0	1	9429	1223	43	2		2	MCF2L	13	113732744	Silent	SNP	G	TCGA-HC-7080-01A-11D-1961-08		113732744	1437134	26	7643											
AHNAK2	113146	broad.mit.edu	37	chr14	105421875	105421875	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccttcagcacttgcttgacGaagatcccctggtccccacc	7	10	7	17	1	1	2	1	1	0	1	4	3	4	2	6	1	2	2	6	1	1	3			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr14:105421875G>A	ENST00000333244.5	-	5	530	c.411C>T	c.(409-411)ttC>ttT	p.F137F		NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	137	PDZ.					nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTTGCTTGACGAAGATCCCCT	0.582													26	73					0	0	0.004656	0	0	A	105421875	G	A	105421875	2	1	163	1	0	0	0	0	0	0	0	1	412	1049	37	1		1	AHNAK2	14	105421875	Silent	SNP	G	TCGA-HC-7080-01A-11D-1961-08		105421875	1927665	27	7644											
CLEC16A	23274	broad.mit.edu	37	chr16	11076736	11076738	+	Splice_Site	DEL	TCT	TCT	-																															tttcttttttttccgccaggTcttcttaattatacatcatg																										TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr16:11076736_11076738delTCT	ENST00000409790.1	+	10	1189_1191	c.957_splice	c.e10-1	p.VF320_splice	CLEC16A_ENST00000409552.3_Splice_Site_p.VF318_splice	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	320										breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TTCCGCCAGGTCTTCTTAATTAT	0.448													18	36	---	---	---	---						-	11076738	TCT	-	11076736	8	5	163	1	0	1	0	1	0	0	1	0	3523	1681	58	0	993	0	CLEC16A	16	11076736	Splice_Site	DEL	TCT	TCGA-HC-7080-01A-11D-1961-08		11076736	79278017	28	7645											
SYT17	51760	broad.mit.edu	37	chr16	19195180	19195180	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctcccacgatggctcgcGccaggacatggcgcactcca	8	6	10	17	4	1	0	0	0	1	0	4	2	2	1	3	3	0	2	3	3	0	0			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr16:19195180G>A	ENST00000562034.1	+	3	4277	c.479G>A	c.(478-480)cGc>cAc	p.R160H	SYT17_ENST00000355377.2_Missense_Mutation_p.R221H|SYT17_ENST00000568115.1_Missense_Mutation_p.R160H|SYT17_ENST00000562711.2_Missense_Mutation_p.R217H			Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	221						membrane|synaptic vesicle	transporter activity			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						GATGGCTCGCGCCAGGACATG	0.612													7	221					0	0	0.00308	0	0	A	19195180	G	A	19195180	3	1	163	1	0	0	0	0	1	0	0	0	15530	1087	38	1	680	1	SYT17	16	19195180	Missense_Mutation	SNP	G	TCGA-HC-7080-01A-11D-1961-08	8118444	19195180	71159573	29	7646											
IRX6	79190	broad.mit.edu	37	chr16	55363122	55363122	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgcatacccaaagcctttgGaaaccccaagtttgccctgc	10	9	7	15	0	0	0	0	0	0	0	0	1	0	1	5	1	6	2	5	1	4	3			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr16:55363122G>T	ENST00000290552.7	+	5	2564	c.1232G>T	c.(1231-1233)gGa>gTa	p.G411V	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	411						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						AAAGCCTTTGGAAACCCCAAG	0.622													49	80					6.03219e-31	2.49107e-30	0.01441	1	0	T	55363122	G	T	55363122	3	4	163	1	0	0	0	0	1	0	0	0	7892	1174	41	4	1250	4	IRX6	16	55363122	Missense_Mutation	SNP	G	TCGA-HC-7080-01A-11D-1961-08	36167942	55363122	34991631	30	7647											
GALNS	2588	broad.mit.edu	37	chr16	88904133	88904133	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaaaccactcatcaaatcCgtgcttcagggggtggaact	11	9	9	12	1	3	0	3	0	0	0	5	1	5	1	3	3	3	1	3	3	3	1			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr16:88904133C>T	ENST00000268695.5	-	5	551	c.463G>A	c.(463-465)Gga>Aga	p.G155R	GALNS_ENST00000542788.1_Missense_Mutation_p.G80R	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfate sulfatase	155			G -> E (in MPS4A).|G -> R (in MPS4A; severe form).			lysosome	metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)	Hyaluronidase(DB00070)	TCATCAAATCCGTGCTTCAGG	0.572													49	64					0	0	0.01441	0	0	T	88904133	C	T	88904133	3	4	163	1	0	0	0	0	1	0	0	0	6246	661	23	1	1145	1	GALNS	16	88904133	Missense_Mutation	SNP	C	TCGA-HC-7080-01A-11D-1961-08	33541011	88904133	1450620	31	7648											
KRT14	3861	broad.mit.edu	37	chr17	39742796	39742796	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagccaccaccaaagccaccAcccaagccagcaccaaggcc	15	0	6	20	0	0	0	0	0	0	0	0	0	0	0	9	1	4	1	9	1	4	0			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr17:39742796A>C	ENST00000167586.6	-	1	377	c.291T>G	c.(289-291)ggT>ggG	p.G97G		NM_000526.4	NP_000517.2	P02533	K1C14_HUMAN	keratin 14	97	Head.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				caaagccaccacccaagccag	0.622													12	58					0	0	0.00333	0	0	C	39742796	A	C	39742796	2	2	163	1	0	0	0	0	0	0	0	1	8494	146	6	5		5	KRT14	17	39742796	Silent	SNP	A	TCGA-HC-7080-01A-11D-1961-08		39742796	41452414	32	7649											
SPOP	8405	broad.mit.edu	37	chr17	47696431	47696431	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgaatttcttgaatcccCagtctttgccttgcacaaac	10	13	7	11	0	2	2	0	2	2	0	3	3	3	3	3	1	3	1	3	1	3	4			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr17:47696431C>G	ENST00000393331.3	-	7	862	c.392G>C	c.(391-393)tGg>tCg	p.W131S	SPOP_ENST00000504102.1_Missense_Mutation_p.W131S|SPOP_ENST00000503676.1_Missense_Mutation_p.W131S|SPOP_ENST00000347630.2_Missense_Mutation_p.W131S|SPOP_ENST00000393328.2_Missense_Mutation_p.W131S	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	131	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CTTGAATCCCCAGTCTTTGCC	0.453										Prostate(2;0.17)			77	106					0	0	0.01441	0	0	G	47696431	C	G	47696431	3	3	163	1	0	0	0	0	1	0	0	0	15140	595	21	4	756	4	SPOP	17	47696431	Missense_Mutation	SNP	C	TCGA-HC-7080-01A-11D-1961-08	7953635	47696431	33498779	33	7650											
U2AF1L4	199746	broad.mit.edu	37	chr19	36234735	36234735	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgggtccccgcccatagaGctgcctctggaggttctggg	4	9	14	14	1	2	1	0	0	2	1	3	2	3	2	5	4	2	2	5	4	1	2			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr19:36234735G>A	ENST00000412391.2	-	7	566	c.553C>T	c.(553-555)Ctc>Ttc	p.L185F	AD000671.6_ENST00000589807.1_3'UTR|U2AF1L4_ENST00000292879.5_Silent_p.S126S|U2AF1L4_ENST00000378975.3_Missense_Mutation_p.L146F			Q8WU68	U2AF4_HUMAN	U2 small nuclear RNA auxiliary factor 1-like 4	185					mRNA processing|RNA splicing	nuclear speck|spliceosomal complex	nucleotide binding|RNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CGCCCATAGAGCTGCCTCTGG	0.572													7	13					0	0	0.006214	0	0	A	36234735	G	A	36234735	3	1	163	1	0	0	0	0	1	0	0	0	16883	971	34	2	238	2	U2AF1L4	19	36234735	Missense_Mutation	SNP	G	TCGA-HC-7080-01A-11D-1961-08		36234735	22894248	34	7651											
C19orf55	148137	broad.mit.edu	37	chr19	36255947	36255949	+	In_Frame_Del	DEL	CTC	CTC	-																															ccctgcagcaaagcctccatCtcctcctcctcctccctcag																										TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr19:36255947_36255949delCTC	ENST00000544099.1	+	7	702_704	c.639_641delCTC	c.(637-642)atc>at	p.IS213del	C19orf55_ENST00000396908.4_In_Frame_Del_p.IS213del			Q2NL68	CS055_HUMAN	chromosome 19 open reading frame 55	213	Ser-rich.									cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AAGCCTCCATCTCCTCCTCCTCC	0.631													7	352	---	---	---	---						-	36255949	CTC	-	36255947	7	5	163	1	0	1	0	1	0	0	0	0	1949	903	32	0	665	0	C19orf55	19	36255947	In_Frame_Del	DEL	CTC	TCGA-HC-7080-01A-11D-1961-08	21212	36255947	22873036	35	7652											
FAM83E	54854	broad.mit.edu	37	chr19	49107168	49107168	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtgcgtcactccacgtgaaGctgggggtcggggagtaggg	6	7	19	9	4	1	1	1	1	0	0	3	2	2	2	1	5	2	2	1	5	2	1			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr19:49107168G>A	ENST00000263266.3	-	4	948	c.758_splice	c.e4-1	p.S253_splice		NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	253										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		TCCACGTGAAGCTGGGGGTCG	0.662													27	36					0	0	0.00632	0	0	A	49107168	G	A	49107168	5	1	163	1	0	0	0	0	0	0	1	0	5669	985	34	2	685	2	FAM83E	19	49107168	Splice_Site	SNP	G	TCGA-HC-7080-01A-11D-1961-08	12851221	49107168	10021815	36	7653											
KLK4	9622	broad.mit.edu	37	chr19	51412631	51412631	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agtgcgggctgcagtcctcgCcgtttatgatttggctgcag	5	12	14	10	3	0	1	0	1	0	0	2	1	1	1	2	2	3	5	2	2	1	3			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr19:51412631C>T	ENST00000324041.1	-	2	100	c.101G>A	c.(100-102)gGc>gAc	p.G34D		NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	34	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		GCAGTCCTCGCCGTTTATGAT	0.647													158	180					0	0	0.01441	0	0	T	51412631	C	T	51412631	3	4	163	1	0	0	0	0	1	0	0	0	8449	739	26	2	679	2	KLK4	19	51412631	Missense_Mutation	SNP	C	TCGA-HC-7080-01A-11D-1961-08	2305463	51412631	7716352	37	7654											
KLK5	25818	broad.mit.edu	37	chr19	51453323	51453323	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggttgctcccagagggcacGgtgttagaggggtggtcaca	7	9	17	8	1	1	2	1	0	0	2	2	2	2	2	1	6	1	4	1	6	1	2			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr19:51453323G>A	ENST00000336334.3	-	3	475	c.123C>T	c.(121-123)acC>acT	p.T41T	KLK5_ENST00000593428.1_Silent_p.T41T|KLK5_ENST00000391809.2_Silent_p.T41T	NM_012427.4	NP_036559.1	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	41				Missing (in Ref. 3; AAG33358).	epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		CAGAGGGCACGGTGTTAGAGG	0.622													17	20					0	0	0.010504	0	0	A	51453323	G	A	51453323	2	1	163	1	0	0	0	0	0	0	0	1	8450	1103	39	1		1	KLK5	19	51453323	Silent	SNP	G	TCGA-HC-7080-01A-11D-1961-08	40692	51453323	7675660	38	7655											
AHCY	191	broad.mit.edu	37	chr20	32878543	32878543	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgccctatcctaccctccaTggcagcctgcagtgcgttga	6	11	9	15	1	0	1	0	1	0	0	2	1	2	1	5	1	5	3	5	1	2	4			TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr20:32878543T>C	ENST00000538132.1	-	6	1062	c.676A>G	c.(676-678)Atg>Gtg	p.M226V	AHCY_ENST00000217426.2_Missense_Mutation_p.M254V	NM_001161766.1	NP_001155238.1	P23526	SAHH_HUMAN	adenosylhomocysteinase	254					methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding			endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CTACCCTCCATGGCAGCCTGC	0.632													86	102					0	0	0.01441	0	0	C	32878543	T	C	32878543	3	2	163	1	0	0	0	0	1	0	0	0	406	1464	51	3	558	3	AHCY	20	32878543	Missense_Mutation	SNP	T	TCGA-HC-7080-01A-11D-1961-08		32878543	30146977	39	7656											
XRCC6	2547	broad.mit.edu	37	chr22	42024154	42024155	+	Frame_Shift_Ins	INS	-	-	T																															ttcaggaagagatagtttgaINStttttttggttgatgcctcc																										TCGA-HC-7080-01A-11D-1961-08	TCGA-HC-7080-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3bbac3a7-c057-4b25-acbe-f195ef6045ff	93783be5-df68-4487-ac57-940bf725cbbd	g.chr22:42024154_42024155insT	ENST00000359308.4	+	2	770_771	c.115_116insT	c.(115-117)tttfs	p.F39fs	XRCC6_ENST00000405506.1_Intron|XRCC6_ENST00000360079.3_Frame_Shift_Ins_p.F39fs|XRCC6_ENST00000405878.1_Frame_Shift_Ins_p.F39fs|XRCC6_ENST00000402580.3_Frame_Shift_Ins_p.F39fs|XRCC6_ENST00000428575.2_Intron			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	39	Ser-rich (potentially targets for phosphorylation).				DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						AGATAGTTTGATTTTTTTGGTT	0.332								Non-homologous end-joining					36	44	---	---	---	---						T	42024155	-	T	42024154	7	5	163	1	0	1	1	0	0	0	0	0	17517	333	12	0	121	0	XRCC6	22	42024154	Frame_Shift_Ins	INS	-	TCGA-HC-7080-01A-11D-1961-08		42024154	9280412	40	7657											
CCNL2	81669	broad.mit.edu	37	chr1	1325908	1325908	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttcttcagttgctccaaaCaaaagaaaccaatggggacg	14	9	8	10	1	3	1	1	0	2	1	4	2	4	2	2	2	3	2	2	2	5	3			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:1325908C>G	ENST00000400809.3	-	7	800	c.795G>C	c.(793-795)ttG>ttC	p.L265F	CCNL2_ENST00000505849.1_5'UTR|CCNL2_ENST00000408952.5_Missense_Mutation_p.L43F	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	265	Cyclin-like 2.				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		TTGCTCCAAACAAAAGAAACC	0.408													23	78					0	0	0.00229938	0	0	G	1325908	C	G	1325908	3	3	164	1	0	0	0	0	1	0	0	0	2954	477	17	4	787	4	CCNL2	1	1325908	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08		1325908	247924713	1	7658											
NBPF1	55672	broad.mit.edu	37	chr1	16893822	16893822	+	Frame_Shift_Del	DEL	C	C	-																															tgcaagacttcaggccctttCtcatccagcagctccctgct																										TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:16893822delC	ENST00000430580.2	-	25	3578	c.2691delG	c.(2689-2691)gafs	p.E897fs	NBPF1_ENST00000432949.1_3'UTR|NBPF1_ENST00000420031.2_3'UTR	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	897	NBPF 5.					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)		CAGGCCCTTTCTCATCCAGCA	0.493													9	1785	---	---	---	---						-	16893822	C	-	16893822	7	5	164	1	0	1	0	1	0	0	0	0	10240	912	32	0	753	0	NBPF1	1	16893822	Frame_Shift_Del	DEL	C	TCGA-HC-7081-01A-11D-1961-08	15567914	16893822	232356799	2	7659											
RPL11	6135	broad.mit.edu	37	chr1	24019135	24019135	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggagaaccccatgcgggaaCttcgcatccgcaaactctgt	11	7	10	13	3	1	1	0	0	1	1	3	3	2	2	3	2	4	2	3	2	3	1			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:24019135C>T	ENST00000374550.3	+	2	88	c.43C>T	c.(43-45)Ctt>Ttt	p.L15F	RPL11_ENST00000482370.1_3'UTR	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN	ribosomal protein L11	15					endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		CATGCGGGAACTTCGCATCCG	0.547													8	145					0	0	0.000274275	0	0	T	24019135	C	T	24019135	3	4	164	1	0	0	0	0	1	0	0	0	13609	565	20	2	49	2	RPL11	1	24019135	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	7125313	24019135	225231486	3	7660											
MACF1	23499	broad.mit.edu	37	chr1	39747939	39747939	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcagccaaggagaaactactCctgtggacccagaaggtgac	13	6	11	11	0	1	3	1	1	0	2	2	5	2	4	3	3	3	0	3	3	4	1	rs143261539		TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:39747939C>T	ENST00000564288.1	+	7	1365	c.588C>T	c.(586-588)ctC>ctT	p.L196L	MACF1_ENST00000372915.3_Silent_p.L201L|MACF1_ENST00000361689.2_Silent_p.L201L|MACF1_ENST00000539005.1_Silent_p.L201L|MACF1_ENST00000567887.1_Silent_p.L233L|MACF1_ENST00000536367.1_Silent_p.L164L|MACF1_ENST00000317713.7_Silent_p.L201L|MACF1_ENST00000545844.1_Silent_p.L201L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	201	Actin-binding.|CH 2.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGAAACTACTCCTGTGGACCC	0.438													7	92					0	0	0.000157383	0	0	T	39747939	C	T	39747939	2	4	164	1	0	0	0	0	0	0	0	1	9190	842	30	2		2	MACF1	1	39747939	Silent	SNP	C	TCGA-HC-7081-01A-11D-1961-08	15728804	39747939	209502682	4	7661											
NBPF15	284565	broad.mit.edu	37	chr1	148594439	148594439	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtggaagagcctgaagtcttAcaggactcactggatagatg	12	9	13	7	0	2	3	1	1	1	2	2	6	2	6	1	3	2	0	1	3	4	2	rs146739148	byFrequency	TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:148594439A>G	ENST00000442702.2	+	21	2879	c.1812A>G	c.(1810-1812)ttA>ttG	p.L604L	NBPF15_ENST00000369187.3_Silent_p.L604L	NM_001170755.1	NP_001164226.1	Q8N660	NBPFF_HUMAN	neuroblastoma breakpoint family, member 15	604	NBPF 6.					cytoplasm				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12	all_hematologic(923;0.032)					CTGAAGTCTTACAGGACTCAC	0.463													4	369					0	0	0.00116845	0	0	G	148594439	A	G	148594439	2	3	164	1	0	0	0	0	0	0	0	1	10243	388	14	3		3	NBPF15	1	148594439	Silent	SNP	A	TCGA-HC-7081-01A-11D-1961-08	108846500	148594439	100656182	5	7662											
CACNA1E	777	broad.mit.edu	37	chr1	181708361	181708361	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctggactttgtggtggtcGttggcgcattggtggccttt	2	16	15	8	2	0	0	0	0	0	0	2	1	1	1	2	6	0	2	2	6	0	4			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:181708361G>A	ENST00000526775.1	+	24	3799	c.3634G>A	c.(3634-3636)Gtt>Att	p.V1212I	CACNA1E_ENST00000367570.1_Missense_Mutation_p.V1231I|CACNA1E_ENST00000360108.3_Missense_Mutation_p.V1212I|CACNA1E_ENST00000367567.4_Missense_Mutation_p.V838I|CACNA1E_ENST00000367573.2_Missense_Mutation_p.V1231I|CACNA1E_ENST00000357570.5_Missense_Mutation_p.V1182I|CACNA1E_ENST00000358338.5_Missense_Mutation_p.V1163I	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1231					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TGTGGTGGTCGTTGGCGCATT	0.502													52	144					0	0	0.000781405	0	0	A	181708361	G	A	181708361	3	1	164	1	0	0	0	0	1	0	0	0	2560	1145	40	1	3789	1	CACNA1E	1	181708361	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08	33113922	181708361	67542260	6	7663											
NCF2	4688	broad.mit.edu	37	chr1	183534901	183534901	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagctgggatgtcggactgcGgagagctttcctcctgaagg	7	9	16	9	2	0	2	0	1	0	1	3	6	2	4	2	4	3	2	2	4	1	1	rs137937390	byFrequency	TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:183534901G>A	ENST00000413720.1	-	9	1077	c.803C>T	c.(802-804)cCg>cTg	p.P268L	NCF2_ENST00000418089.1_Missense_Mutation_p.P232L|NCF2_ENST00000367535.3_Missense_Mutation_p.P313L|NCF2_ENST00000367536.1_Missense_Mutation_p.P313L	NM_001190794.1	NP_001177723.1	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	313	SH3 1.				cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						GTCGGACTGCGGAGAGCTTTC	0.597													16	69					0	0	0.000308642	0	0	A	183534901	G	A	183534901	3	1	164	1	0	0	0	0	1	0	0	0	10264	1116	39	1	666	1	NCF2	1	183534901	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08	1826540	183534901	65715720	7	7664											
ADORA1	134	broad.mit.edu	37	chr1	203134669	203134669	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaggtcttctacctaatcCgcaagcagctcaacaagaag	13	8	9	11	1	3	1	1	0	2	1	4	2	4	2	2	2	4	3	2	2	6	3	rs148415221		TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr1:203134669C>T	ENST00000367236.4	+	3	1543	c.622C>T	c.(622-624)Cgc>Tgc	p.R208C	ADORA1_ENST00000472535.1_3'UTR|ADORA1_ENST00000367235.1_3'UTR|ADORA1_ENST00000309502.3_Missense_Mutation_p.R208C|ADORA1_ENST00000337894.4_Missense_Mutation_p.R208C	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN	adenosine A1 receptor	208					induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane		p.R208C(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)	CTACCTAATCCGCAAGCAGCT	0.552													5	77					0	0	0.00116845	0	0	T	203134669	C	T	203134669	3	4	164	1	0	0	0	0	1	0	0	0	325	652	23	1	628	1	ADORA1	1	203134669	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	19599768	203134669	46115952	8	7665											
IFT172	26160	broad.mit.edu	37	chr2	27682634	27682634	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttctgctgcaccaggtggtCcccccatgcctcctctagtt	4	12	8	17	0	2	0	0	0	2	0	4	0	4	0	6	2	3	3	6	2	1	3			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr2:27682634C>T	ENST00000260570.3	-	24	2687	c.2584G>A	c.(2584-2586)Gac>Aac	p.D862N		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	862					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					ACCAGGTGGTCCCCCCATGCC	0.527													18	195					0	0	0.00074312	0	0	T	27682634	C	T	27682634	3	4	164	1	0	0	0	0	1	0	0	0	7601	855	30	2	2765	2	IFT172	2	27682634	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08		27682634	215516739	9	7666											
BTLA	151888	broad.mit.edu	37	chr3	112198518	112198518	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatgaggcctgttagcacAgtatttcacagggcattcta	11	11	9	10	0	2	1	1	1	1	0	2	1	2	1	1	2	1	4	1	2	3	5			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:112198518A>G	ENST00000334529.5	-	2	389	c.187T>C	c.(187-189)Tgt>Cgt	p.C63R	BTLA_ENST00000383680.4_Missense_Mutation_p.C63R	NM_181780.3	NP_861445.3	Q7Z6A9	BTLA_HUMAN	B and T lymphocyte associated	63	Ig-like V-type.				T cell costimulation		receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|large_intestine(1)|lung(5)|prostate(1)	11		Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361)				CTGTTAGCACAGTATTTCACA	0.398													46	75					0	0	0.000781405	0	0	G	112198518	A	G	112198518	3	3	164	1	0	0	0	0	1	0	0	0	1561	188	7	3	698	3	BTLA	3	112198518	Missense_Mutation	SNP	A	TCGA-HC-7081-01A-11D-1961-08		112198518	85823912	10	7667											
PIK3CA	5290	broad.mit.edu	37	chr3	178921552	178921552	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctttgtgcaacctacgtgaAtgtaaatattcgagacattg	12	14	8	7	2	1	2	0	1	1	1	2	3	1	2	1	0	3	2	1	0	6	6			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:178921552A>T	ENST00000263967.3	+	5	1191	c.1034A>T	c.(1033-1035)aAt>aTt	p.N345I		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	345					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.N345I(4)|p.N345S(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			ACCTACGTGAATGTAAATATT	0.303		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			4	105					0	0	0.00024832	0	0	T	178921552	A	T	178921552	3	4	164	1	0	0	0	0	1	0	0	0	11961	101	4	5	1048	5	PIK3CA	3	178921552	Missense_Mutation	SNP	A	TCGA-HC-7081-01A-11D-1961-08	66723034	178921552	19100878	11	7668											
PIK3CA	5290	broad.mit.edu	37	chr3	178936083	178936083	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacacgagatcctctctctgAaatcactgagcaggagaaag	14	8	9	10	1	3	4	1	2	2	2	5	6	4	4	1	1	2	1	1	1	3	1			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr3:178936083A>C	ENST00000263967.3	+	10	1782	c.1625A>C	c.(1624-1626)gAa>gCa	p.E542A		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PI3K helical.		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542V(8)|p.E542A(4)|p.E542G(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CCTCTCTCTGAAATCACTGAG	0.333		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			5	56					0	0	0.00116845	0	0	C	178936083	A	C	178936083	3	2	164	1	0	0	0	0	1	0	0	0	11961	246	9	5	1659	5	PIK3CA	3	178936083	Missense_Mutation	SNP	A	TCGA-HC-7081-01A-11D-1961-08	14531	178936083	19086347	12	7669											
MTTP	4547	broad.mit.edu	37	chr4	100503185	100503185	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggctaccgcatttcctccaAcgtggatgtggccttactat	7	12	10	12	2	0	0	0	0	0	0	2	1	2	1	4	3	3	2	4	3	4	4			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr4:100503185A>G	ENST00000457717.1	+	3	441	c.185A>G	c.(184-186)aAc>aGc	p.N62S	MTTP_ENST00000265517.5_Missense_Mutation_p.N62S|MTTP_ENST00000511045.1_Missense_Mutation_p.N89S|MTTP_ENST00000422897.2_Missense_Mutation_p.N62S	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	62	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	ATTTCCTCCAACGTGGATGTG	0.463													32	103					0	0	0.00283554	0	0	G	100503185	A	G	100503185	3	3	164	1	0	0	0	0	1	0	0	0	10012	43	2	3	191	3	MTTP	4	100503185	Missense_Mutation	SNP	A	TCGA-HC-7081-01A-11D-1961-08		100503185	90651091	13	7670											
MAS1L	116511	broad.mit.edu	37	chr6	29454710	29454710	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctgagagattccttcagccTtttctttctgaggctcccca	6	15	7	13	0	4	3	1	2	3	1	6	4	6	3	4	1	1	1	4	1	0	5			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:29454710T>C	ENST00000377127.3	-	1	1028	c.970A>G	c.(970-972)Agg>Ggg	p.R324G		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 oncogene-like	324						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity	p.R324G(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						TCCTTCAGCCTTTTCTTTCTG	0.463													3	172					0	0	6.4e-05	0	0	C	29454710	T	C	29454710	3	2	164	1	0	0	0	0	1	0	0	0	9371	1608	56	3	168	3	MAS1L	6	29454710	Missense_Mutation	SNP	T	TCGA-HC-7081-01A-11D-1961-08		29454710	141660357	14	7671											
TNFRSF21	27242	broad.mit.edu	37	chr6	47200572	47200572	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttcctggctcttgactcCaataatttcgaatagccggt	8	13	9	11	2	1	1	0	1	1	0	4	2	3	1	3	3	1	2	3	3	4	5			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:47200572C>A	ENST00000296861.2	-	6	2290	c.1897G>T	c.(1897-1899)Gga>Tga	p.G633*		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	633					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			CTCTTGACTCCAATAATTTCG	0.478													45	120					1.41504e-22	2.1933e-21	0.00285205	1	0	A	47200572	C	A	47200572	4	1	164	1	0	0	0	0	0	1	0	0	16355	603	21	4	74	4	TNFRSF21	6	47200572	Nonsense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	17745862	47200572	123914495	15	7672											
CYB5R4	51167	broad.mit.edu	37	chr6	84644322	84644322	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcactttttaggtttgtacTacagaaagtgccagttaatt	12	16	7	6	0	1	1	1	0	0	1	1	1	1	1	1	1	3	3	1	1	5	8			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr6:84644322T>C	ENST00000369681.4	+	11	963	c.823T>C	c.(823-825)Tac>Cac	p.Y275H	CYB5R4_ENST00000479164.1_3'UTR	NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	275	FAD-binding FR-type.				cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		AGGTTTGTACTACAGAAAGTG	0.358													15	20					0	0	0.000308642	0	0	C	84644322	T	C	84644322	3	2	164	1	0	0	0	0	1	0	0	0	4152	1522	53	3	865	3	CYB5R4	6	84644322	Missense_Mutation	SNP	T	TCGA-HC-7081-01A-11D-1961-08	37443750	84644322	86470745	16	7673											
HDAC9	9734	broad.mit.edu	37	chr7	18975506	18975506	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctctagaaggaggacatGatctcacagccatctgtgat	11	10	11	9	0	3	3	1	2	3	1	4	5	3	5	1	3	1	1	1	3	2	1			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr7:18975506G>T	ENST00000406451.3	+	23	3019	c.2869G>T	c.(2869-2871)Gat>Tat	p.D957Y	HDAC9_ENST00000441542.2_Missense_Mutation_p.D960Y|HDAC9_ENST00000432645.2_Missense_Mutation_p.D957Y|HDAC9_ENST00000401921.1_Missense_Mutation_p.D916Y	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	957	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	AGGAGGACATGATCTCACAGC	0.423													18	220					8.00594e-06	0.000116495	0.000958276	1	0	T	18975506	G	T	18975506	3	4	164	1	0	0	0	0	1	0	0	0	7055	1290	45	4	3077	4	HDAC9	7	18975506	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08		18975506	140163157	17	7674											
KRIT1	889	broad.mit.edu	37	chr7	91864869	91864869	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgattcagtagcatatgcagGatttatgacattagttttta	12	17	8	4	0	1	2	1	2	0	0	1	3	1	3	0	1	2	4	0	1	5	9			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr7:91864869G>A	ENST00000394507.1	-	9	1360	c.577C>T	c.(577-579)Cct>Tct	p.P193S	KRIT1_ENST00000394505.2_Missense_Mutation_p.P193S|KRIT1_ENST00000340022.2_Missense_Mutation_p.P193S|KRIT1_ENST00000412043.2_Missense_Mutation_p.P193S|KRIT1_ENST00000394503.2_Missense_Mutation_p.P193S	NM_194456.1	NP_919438.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	193					angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GCATATGCAGGATTTATGACA	0.393													7	103					0	0	0.000274275	0	0	A	91864869	G	A	91864869	3	1	164	1	0	0	0	0	1	0	0	0	8488	1174	41	2	1681	2	KRIT1	7	91864869	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08	72889363	91864869	67273794	18	7675											
COL1A2	1278	broad.mit.edu	37	chr7	94037158	94037158	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actcaatccttctccatgtaGggtgaacctggtgcccctgg	7	11	10	13	0	2	1	1	1	1	0	4	1	3	1	5	3	2	1	5	3	3	2			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr7:94037158G>A	ENST00000297268.6	+	13	1065		c.e13-1			NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2						axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TCTCCATGTAGGGTGAACCTG	0.323										HNSCC(75;0.22)			5	27					0	0	0.00116845	0	0	A	94037158	G	A	94037158	5	1	164	1	0	0	0	0	0	0	1	0	3701	1014	35	2	644	2	COL1A2	7	94037158	Splice_Site	SNP	G	TCGA-HC-7081-01A-11D-1961-08	2172289	94037158	65101505	19	7676											
OR2A12	346525	broad.mit.edu	37	chr7	143793017	143793017	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaagaacggaggaagatcCtttccctgttttacagcctt	10	12	8	11	1	1	2	1	0	0	2	3	4	3	4	3	2	3	1	3	2	4	4			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr7:143793017C>T	ENST00000408949.2	+	1	877	c.817C>T	c.(817-819)Ctt>Ttt	p.L273F		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					GAGGAAGATCCTTTCCCTGTT	0.522													80	216					0	0	0.000781405	0	0	T	143793017	C	T	143793017	3	4	164	1	0	0	0	0	1	0	0	0	11023	681	24	2	819	2	OR2A12	7	143793017	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	49755859	143793017	15345646	20	7677											
HTR5A	3361	broad.mit.edu	37	chr7	154875945	154875945	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccagccagaaggggacacGtggcgggagcagaaggagca	12	3	17	9	2	0	2	0	0	0	2	1	5	1	5	2	5	3	2	2	5	2	1			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr7:154875945G>A	ENST00000287907.2	+	2	1398	c.822G>A	c.(820-822)acG>acA	p.T274T	HTR5A_ENST00000486819.1_3'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	274						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		AAGGGGACACGTGGCGGGAGC	0.607													13	39					0	0	0.00185496	0	0	A	154875945	G	A	154875945	2	1	164	1	0	0	0	0	0	0	0	1	7494	1132	40	1		1	HTR5A	7	154875945	Silent	SNP	G	TCGA-HC-7081-01A-11D-1961-08	11082928	154875945	4262718	21	7678											
MAMDC2	256691	broad.mit.edu	37	chr9	72755164	72755164	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggacccgagtgaaagtaaaAccaaacatgtatcgggctgg	14	7	12	8	2	0	1	0	1	0	0	1	3	0	2	2	3	2	3	2	3	5	2			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr9:72755164A>T	ENST00000377182.4	+	8	1715	c.1098A>T	c.(1096-1098)aaA>aaT	p.K366N	MAMDC2-AS1_ENST00000591368.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	366	MAM 3.					endoplasmic reticulum|membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						TGAAAGTAAAACCAAACATGT	0.463													7	127					0	0	0.000442599	0	0	T	72755164	A	T	72755164	3	4	164	1	0	0	0	0	1	0	0	0	9253	40	2	5	1128	5	MAMDC2	9	72755164	Missense_Mutation	SNP	A	TCGA-HC-7081-01A-11D-1961-08		72755164	68458267	22	7679											
PALM2-AKAP2	0	broad.mit.edu	37	chr9	112899835	112899835	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatggagaatttacgagcGcccgggctgtcctcactgtg	8	9	14	10	3	1	1	1	0	0	1	2	4	2	2	2	3	2	1	2	3	2	2	rs147886830		TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr9:112899835G>A	ENST00000374530.3	+	8	2191	c.2011G>A	c.(2011-2013)Gcc>Acc	p.A671T	AKAP2_ENST00000555236.1_Missense_Mutation_p.A671T|AKAP2_ENST00000259318.7_Missense_Mutation_p.A440T|AKAP2_ENST00000434623.2_Missense_Mutation_p.A529T|AKAP2_ENST00000374525.1_Missense_Mutation_p.A529T|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.A671T|AKAP2_ENST00000510514.5_Missense_Mutation_p.A671T	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		440							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						ATTTACGAGCGCCCGGGCTGT	0.537													33	88					0	0	0.00283554	0	0	A	112899835	G	A	112899835	3	1	164	1	0	0	0	0	1	0	0	0	11457	1087	38	1	2041	1	PALM2-AKAP2	9	112899835	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08	40144671	112899835	28313596	23	7680											
SLC3A2	6520	broad.mit.edu	37	chr11	62649502	62649502	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaattttggctccaaggaaGattttgacagtctcttgcaa	11	13	8	9	0	1	2	0	1	1	1	3	3	2	3	2	2	1	2	2	2	4	5			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:62649502G>A	ENST00000377892.1	+	6	1182	c.958G>A	c.(958-960)Gat>Aat	p.D320N	SLC3A2_ENST00000536981.1_5'UTR|SLC3A2_ENST00000535296.1_Missense_Mutation_p.D258N|SLC3A2_ENST00000377889.2_Missense_Mutation_p.D227N|SLC3A2_ENST00000377891.2_Missense_Mutation_p.D290N|SLC3A2_ENST00000377890.2_Missense_Mutation_p.D289N|SLC3A2_ENST00000538682.1_3'UTR|SLC3A2_ENST00000338663.7_Missense_Mutation_p.D188N			P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	289				S -> F (in Ref. 5; AAA35489).	blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						CTCCAAGGAAGATTTTGACAG	0.488													19	65					0	0	0.000958276	0	0	A	62649502	G	A	62649502	3	1	164	1	0	0	0	0	1	0	0	0	14682	942	33	2	983	2	SLC3A2	11	62649502	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08		62649502	72357014	24	7681											
HMBS	3145	broad.mit.edu	37	chr11	118959361	118959361	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcttgctcgcatacagaCggacagtgtggtggcaacat	10	8	13	10	2	0	1	0	0	0	1	1	2	0	2	0	3	4	5	0	3	2	2			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr11:118959361C>T	ENST00000537841.1	+	3	344	c.53C>T	c.(52-54)aCg>aTg	p.T18M	HMBS_ENST00000392841.1_Missense_Mutation_p.T18M|HMBS_ENST00000544387.1_Missense_Mutation_p.T35M|HMBS_ENST00000534956.1_3'UTR|HMBS_ENST00000278715.3_Missense_Mutation_p.T35M|HMBS_ENST00000543090.1_Missense_Mutation_p.T17M|HMBS_ENST00000542729.1_Missense_Mutation_p.T18M|HMBS_ENST00000442944.2_Missense_Mutation_p.T18M			P08397	HEM3_HUMAN	hydroxymethylbilane synthase	35			M -> I (in AIP).		peptidyl-pyrromethane cofactor linkage	cytosol	hydroxymethylbilane synthase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		CGCATACAGACGGACAGTGTG	0.522													13	98					0	0	0.000958276	0	0	T	118959361	C	T	118959361	3	4	164	1	0	0	0	0	1	0	0	0	7260	536	19	1	114	1	HMBS	11	118959361	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08	56309859	118959361	16047155	25	7682											
NT5DC3	51559	broad.mit.edu	37	chr12	104192373	104192374	+	Frame_Shift_Del	DEL	AA	AA	-																															gcttctcattacctttccgtAaaagtcactcatctgctcca																										TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr12:104192373_104192374delAA	ENST00000392876.3	-	5	646_647	c.606_607delTT	c.(604-609)ttacfs	p.FY202fs	NT5DC3_ENST00000465502.1_5'UTR	NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	202							hydrolase activity|metal ion binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						ACCTTTCCGTAAAAGTCACTCA	0.441													8	89	---	---	---	---						-	104192374	AA	-	104192373	7	5	164	1	0	1	0	1	0	0	0	0	10740	362	13	0	1079	0	NT5DC3	12	104192373	Frame_Shift_Del	DEL	AA	TCGA-HC-7081-01A-11D-1961-08		104192373	29659522	26	7683											
TNRC6A	27327	broad.mit.edu	37	chr16	24801364	24801364	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctctagtttaccaaactcCggttcagtgcagaataatga	13	11	7	10	1	2	2	1	1	1	1	3	2	3	2	3	1	3	3	3	1	5	5	rs145186487		TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr16:24801364C>T	ENST00000395799.3	+	6	1530	c.1401C>T	c.(1399-1401)tcC>tcT	p.S467S	TNRC6A_ENST00000315183.7_Silent_p.S467S	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	467	Sufficient for interaction with EIF2C1, EIF2C3 and EIF2C4.|Sufficient for interaction with EIF2C2.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TACCAAACTCCGGTTCAGTGC	0.438													7	65					0	0	0.00198382	0	0	T	24801364	C	T	24801364	2	4	164	1	0	0	0	0	0	0	0	1	16400	639	23	1		1	TNRC6A	16	24801364	Silent	SNP	C	TCGA-HC-7081-01A-11D-1961-08		24801364	65553389	27	7684											
PIK3R6	146850	broad.mit.edu	37	chr17	8731970	8731970	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgtgcagccgggacacGccgggcagcatttccccatc	6	7	13	15	3	0	0	0	0	0	0	2	1	1	1	4	2	3	4	4	2	0	1			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr17:8731970G>A	ENST00000311434.9	-	11	1466	c.1227C>T	c.(1225-1227)ggC>ggT	p.G409G	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	409					platelet activation	cytosol											GCCGGGACACGCCGGGCAGCA	0.701													5	29					0	0	0.00116845	0	0	A	8731970	G	A	8731970	2	1	164	1	0	0	0	0	0	0	0	1	11971	1074	38	1		1	PIK3R6	17	8731970	Silent	SNP	G	TCGA-HC-7081-01A-11D-1961-08		8731970	72463240	28	7685											
C19orf57	79173	broad.mit.edu	37	chr19	14006305	14006305	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggaactctgggggtccccaTagaagtctcctagccttggg	7	10	13	11	0	2	1	0	0	2	1	4	2	3	2	4	4	2	0	4	4	4	3			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:14006305T>G	ENST00000454313.1	-	3	144	c.86A>C	c.(85-87)tAt>tCt	p.Y29S	C19orf57_ENST00000346736.2_Missense_Mutation_p.Y29S|C19orf57_ENST00000586783.1_Missense_Mutation_p.Y29S|C19orf57_ENST00000591586.1_Missense_Mutation_p.Y29S			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	29					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GGGGTCCCCATAGAAGTCTCC	0.547													8	232					0	0	0.000442599	0	0	G	14006305	T	G	14006305	3	3	164	1	0	0	0	0	1	0	0	0	1951	1406	49	5	1851	5	C19orf57	19	14006305	Missense_Mutation	SNP	T	TCGA-HC-7081-01A-11D-1961-08		14006305	45122678	29	7686											
PIK3R2	5296	broad.mit.edu	37	chr19	18278049	18278049	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcggacaacagagagatcGacaagcgcatgaacagcctc	14	4	10	13	3	0	3	0	1	0	2	3	6	0	4	2	1	4	1	2	1	3	0			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:18278049G>T	ENST00000593731.1	+	13	2229	c.1669G>T	c.(1669-1671)Gac>Tac	p.D557Y	PIK3R2_ENST00000222254.7_Missense_Mutation_p.D557Y			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	557					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						CAGAGAGATCGACAAGCGCAT	0.622													12	88					1.08611e-07	1.61332e-06	0.000978159	1	0	T	18278049	G	T	18278049	3	4	164	1	0	0	0	0	1	0	0	0	11967	1058	37	4	1715	4	PIK3R2	19	18278049	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08	4271744	18278049	40850934	30	7687											
ZNF568	374900	broad.mit.edu	37	chr19	37440624	37440627	+	Frame_Shift_Del	DEL	ACTT	ACTT	-																															gggtttggaacataatttagActtacttagatatgagaaag																										TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:37440624_37440627delACTT	ENST00000415168.1	+	5	753_756	c.377_380delACTT	c.(376-381)gafs	p.DL126fs	ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000333987.7_Frame_Shift_Del_p.DL190fs	NM_001204837.1	NP_001191766.1	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CATAATTTAGACTTACTTAGATAT	0.363													34	93	---	---	---	---						-	37440627	ACTT	-	37440624	7	5	164	1	0	1	0	1	0	0	0	0	18056	275	10	0	587	0	ZNF568	19	37440624	Frame_Shift_Del	DEL	ACTT	TCGA-HC-7081-01A-11D-1961-08	19162575	37440624	21688359	31	7688											
DLL3	10683	broad.mit.edu	37	chr19	39995921	39995921	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgtgggttctacgggctgcGgtgtgaggtgagcggggtga	4	9	22	6	4	1	3	0	3	1	0	1	3	1	3	0	6	3	2	0	6	1	2	rs141671275	byFrequency	TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:39995921G>A	ENST00000205143.4	+	6	930	c.923G>A	c.(922-924)cGg>cAg	p.R308Q	DLL3_ENST00000356433.5_Missense_Mutation_p.R308Q	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	delta-like 3 (Drosophila)	308	EGF-like 2.				Notch signaling pathway|skeletal system development	integral to membrane	Notch binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TACGGGCTGCGGTGTGAGGTG	0.592													28	86					0	0	0.00127121	0	0	A	39995921	G	A	39995921	3	1	164	1	0	0	0	0	1	0	0	0	4595	1116	39	1	945	1	DLL3	19	39995921	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08	2555297	39995921	19133062	32	7689											
SHANK1	50944	broad.mit.edu	37	chr19	51217187	51217187	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagagccttcggtctgggcCgccagtgtcaagggggtctc	6	8	15	12	2	3	1	1	0	2	1	5	1	3	1	3	4	1	0	3	4	1	1			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:51217187C>T	ENST00000293441.1	-	5	678	c.660G>A	c.(658-660)gcG>gcA	p.A220A	SHANK1_ENST00000359082.3_Silent_p.A220A|SHANK1_ENST00000391814.1_Silent_p.A220A	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	220					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CGGTCTGGGCCGCCAGTGTCA	0.617													9	30					0	0	0.000673444	0	0	T	51217187	C	T	51217187	2	4	164	1	0	0	0	0	0	0	0	1	14319	639	23	1		1	SHANK1	19	51217187	Silent	SNP	C	TCGA-HC-7081-01A-11D-1961-08	11221266	51217187	7911796	33	7690											
NLRP4	147945	broad.mit.edu	37	chr19	56363700	56363700	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatggatagaaaggatctctGcatgaaggtcatgagggaga	14	8	15	4	0	2	4	1	2	1	2	3	8	2	6	0	4	1	1	0	4	3	1			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr19:56363700G>T	ENST00000301295.6	+	2	676	c.254G>T	c.(253-255)tGc>tTc	p.C85F	NLRP4_ENST00000346986.5_Missense_Mutation_p.C85F	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	85	DAPIN.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		AAGGATCTCTGCATGAAGGTC	0.443													27	60					1.2476e-16	1.89263e-15	0.00106085	1	0	T	56363700	G	T	56363700	3	4	164	1	0	0	0	0	1	0	0	0	10526	1319	46	4	256	4	NLRP4	19	56363700	Missense_Mutation	SNP	G	TCGA-HC-7081-01A-11D-1961-08	5146513	56363700	2765283	34	7691											
TTLL8	164714	broad.mit.edu	37	chr22	50480096	50480096	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggtcctcccactcggcctCagtgaggtcctccacggcat	6	8	10	17	2	1	1	1	1	0	0	6	1	5	1	5	4	0	1	5	4	0	0			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chr22:50480096C>T	ENST00000266182.6	-	7	783	c.784G>A	c.(784-786)Gag>Aag	p.E262K	TTLL8_ENST00000440475.1_Missense_Mutation_p.E262K					tubulin tyrosine ligase-like family, member 8											NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		CACTCGGCCTCAGTGAGGTCC	0.607													5	27					0	0	0.000602214	0	0	T	50480096	C	T	50480096	3	4	164	1	0	0	0	0	1	0	0	0	16795	835	29	2	1751	2	TTLL8	22	50480096	Missense_Mutation	SNP	C	TCGA-HC-7081-01A-11D-1961-08		50480096	824470	35	7692											
FOXR2	139628	broad.mit.edu	37	chrX	55651014	55651014	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcgtgtcttagcctttgcTcaaagggagagaatccaaga	12	10	10	9	1	2	2	1	0	1	2	4	4	3	3	2	1	2	1	2	1	4	2			TCGA-HC-7081-01A-11D-1961-08	TCGA-HC-7081-10A-01D-1962-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76733f2c-8d48-477e-87df-d407287e2cbe	0bc728e9-ef17-4595-b98a-4d83e59dfca9	g.chrX:55651014T>G	ENST00000339140.3	+	1	1182	c.870T>G	c.(868-870)gcT>gcG	p.A290A		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	290					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						TAGCCTTTGCTCAAAGGGAGA	0.493													17	15					0	0	0.000566183	0	0	G	55651014	T	G	55651014	2	3	164	1	0	0	0	0	0	0	0	1	6066	1538	54	5		5	FOXR2	23	55651014	Silent	SNP	T	TCGA-HC-7081-01A-11D-1961-08		55651014	99619546	36	7693											
SPRR3	6707	broad.mit.edu	37	chr1	152975781	152975781	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgtaccaaggtccctgaGccaggttgtaccaaggtccc	8	8	12	13	0	0	1	0	1	0	0	2	1	2	1	5	4	3	4	5	4	4	3			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr1:152975781G>A	ENST00000331860.3	+	3	435	c.285G>A	c.(283-285)gaG>gaA	p.E95E	SPRR3_ENST00000542696.1_Intron|SPRR3_ENST00000295367.4_Silent_p.E95E	NM_005416.2	NP_005407.1	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	95	14 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGGTCCCTGAGCCAGGTTGTA	0.592													18	38					0	0	0.062417	0	0	A	152975781	G	A	152975781	2	1	165	1	0	0	0	0	0	0	0	1	15159	962	34	2		2	SPRR3	1	152975781	Silent	SNP	G	TCGA-HC-7209-01A-11D-2114-08		152975781	96274840	1	7694											
TTN	7273	broad.mit.edu	37	chr2	179463271	179463271	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccttcttctttatattcaaCgatgtatccagttactttgg	8	19	5	9	1	3	0	1	0	2	0	5	1	5	0	2	1	2	2	2	1	5	9			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr2:179463271C>T	ENST00000589042.1	-	292	57297	c.57073G>A	c.(57073-57075)Gtt>Att	p.V19025I	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V10085I|TTN_ENST00000342992.6_Missense_Mutation_p.V16457I|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V10152I|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V17384I|TTN_ENST00000460472.2_Missense_Mutation_p.V9960I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17384							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTATATTCAACGATGTATCCA	0.378													17	23					0	0	0.043863	0	0	T	179463271	C	T	179463271	3	4	165	1	0	0	0	0	1	0	0	0	16797	536	19	1	50904	1	TTN	2	179463271	Missense_Mutation	SNP	C	TCGA-HC-7209-01A-11D-2114-08		179463271	63736102	2	7695											
USP37	57695	broad.mit.edu	37	chr2	219341590	219341590	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggtcttcctgctgctgttcGttgcctaacatttcacaaag	8	14	8	11	1	2	0	1	0	1	0	4	0	3	0	2	1	4	4	2	1	2	5			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr2:219341590G>T	ENST00000258399.3	-	19	2428	c.2016C>A	c.(2014-2016)aaC>aaA	p.N672K	USP37_ENST00000418019.1_Missense_Mutation_p.N672K|USP37_ENST00000415516.1_Missense_Mutation_p.N578K|USP37_ENST00000454775.1_Missense_Mutation_p.N672K	NM_020935.2	NP_065986.2	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	672					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		GCTGCTGTTCGTTGCCTAACA	0.393													20	52					7.88262e-20	9.79356e-20	0.083992	1	0	T	219341590	G	T	219341590	3	4	165	1	0	0	0	0	1	0	0	0	17128	1136	40	4	955	4	USP37	2	219341590	Missense_Mutation	SNP	G	TCGA-HC-7209-01A-11D-2114-08	39878319	219341590	23857783	3	7696											
RPSA	3921	broad.mit.edu	37	chr3	39450137	39450137	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaggacctgggagaagctTctgctggcagctcgtgcaat	10	8	14	9	1	1	2	0	0	1	2	2	4	1	3	1	3	4	5	1	3	3	1			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr3:39450137T>G	ENST00000301821.6	+	3	283	c.174T>G	c.(172-174)ctT>ctG	p.L58L	RPSA_ENST00000478027.1_3'UTR|RPSA_ENST00000443003.1_Silent_p.L58L	NM_001012321.1|NM_002295.4	NP_001012321.1|NP_002286.2	P08865	RSSA_HUMAN	ribosomal protein SA	58	Interaction with PPP1R16B.				cell adhesion|endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|ribosomal small subunit assembly|rRNA export from nucleus|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane	protein binding|receptor activity|ribosome binding|structural constituent of ribosome			endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		GGGAGAAGCTTCTGCTGGCAG	0.458													16	46					0	0	0.146539	0	0	G	39450137	T	G	39450137	2	3	165	1	0	0	0	0	0	0	0	1	13715	1770	62	5		5	RPSA	3	39450137	Silent	SNP	T	TCGA-HC-7209-01A-11D-2114-08		39450137	158572293	4	7697											
FOXP1	27086	broad.mit.edu	37	chr3	71037204	71037204	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggtgggtcatcatggcttGcaggcgttctttgtcttttg	4	16	13	8	1	4	0	2	0	2	0	4	0	4	0	0	4	1	3	0	4	0	5			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr3:71037204G>A	ENST00000318789.4	-	14	1612	c.1087C>T	c.(1087-1089)Caa>Taa	p.Q363*	FOXP1_ENST00000493089.1_Nonsense_Mutation_p.Q363*|FOXP1_ENST00000491238.1_Nonsense_Mutation_p.Q365*|FOXP1_ENST00000468577.1_Nonsense_Mutation_p.Q363*|FOXP1_ENST00000475937.1_Nonsense_Mutation_p.Q363*|FOXP1_ENST00000498215.1_Nonsense_Mutation_p.Q363*|FOXP1_ENST00000484350.1_Nonsense_Mutation_p.Q287*	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	363	Leucine-zipper.				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		ATCATGGCTTGCAGGCGTTCT	0.428			T	PAX5	ALL								63	154					0	0	0.139131	0	0	A	71037204	G	A	71037204	4	1	165	1	0	0	0	0	0	1	0	0	6060	1328	46	2	978	2	FOXP1	3	71037204	Nonsense_Mutation	SNP	G	TCGA-HC-7209-01A-11D-2114-08	31587067	71037204	126985226	5	7698											
TLR1	7096	broad.mit.edu	37	chr4	38798749	38798749	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aattcagacatgtgaaagtcCtttagtagggttcctctata	12	14	8	7	0	2	2	1	1	1	1	4	2	4	2	2	1	0	2	2	1	6	7			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr4:38798749C>T	ENST00000308979.2	-	4	1977	c.1704G>A	c.(1702-1704)aaG>aaA	p.K568K	TLR1_ENST00000502213.2_Silent_p.K568K	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN	toll-like receptor 1	568	LRRCT.				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						TGTGAAAGTCCTTTAGTAGGG	0.448													32	111					0	0	0.163468	0	0	T	38798749	C	T	38798749	2	4	165	1	0	0	0	0	0	0	0	1	16009	680	24	2		2	TLR1	4	38798749	Silent	SNP	C	TCGA-HC-7209-01A-11D-2114-08		38798749	152355527	6	7699											
DCHS2	54798	broad.mit.edu	37	chr4	155158120	155158120	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagcgtgcttccaaccagagCatcctcacttaggctaagat	12	9	8	12	1	1	2	1	0	0	2	3	2	3	2	3	1	4	3	3	1	4	3			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr4:155158120C>A	ENST00000357232.3	-	25	6318	c.6319G>T	c.(6319-6321)Gct>Tct	p.A2107S		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2107	Cadherin 19.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CCAACCAGAGCATCCTCACTT	0.398													5	207					2.7689e-08	3.15346e-08	0.02938	1	0	A	155158120	C	A	155158120	3	1	165	1	0	0	0	0	1	0	0	0	4311	710	25	4	2435	4	DCHS2	4	155158120	Missense_Mutation	SNP	C	TCGA-HC-7209-01A-11D-2114-08	116359371	155158120	35996156	7	7700											
RXFP1	59350	broad.mit.edu	37	chr4	159549858	159549858	+	Frame_Shift_Del	DEL	A	A	-																															acctctccagaaactggatgAattgtaagtatgactgaaca																										TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr4:159549858delA	ENST00000307765.5	+	11	1147	c.896delA	c.(895-897)gafs	p.E299fs	RXFP1_ENST00000343542.5_Frame_Shift_Del_p.E299fs|RXFP1_ENST00000470033.1_Frame_Shift_Del_p.E266fs|RXFP1_ENST00000448688.2_Frame_Shift_Del_p.E194fs|RXFP1_ENST00000460056.2_Frame_Shift_Del_p.E218fs	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	299						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		AAACTGGATGAATTGTAAGTA	0.264													11	31	---	---	---	---						-	159549858	A	-	159549858	7	5	165	1	0	1	0	1	0	0	0	0	13811	246	9	0	938	0	RXFP1	4	159549858	Frame_Shift_Del	DEL	A	TCGA-HC-7209-01A-11D-2114-08	4391738	159549858	31604418	8	7701											
EXOC2	55770	broad.mit.edu	37	chr6	564561	564561	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccttacagtctggatggCgtgagcgagccactgtccgg	7	9	13	12	3	2	1	1	1	1	0	3	3	3	2	3	3	3	0	3	3	1	1	rs138384447		TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr6:564561C>T	ENST00000230449.4	-	15	1786	c.1651G>A	c.(1651-1653)Gcc>Acc	p.A551T	EXOC2_ENST00000448181.3_Missense_Mutation_p.A146T	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	551					exocytosis|protein transport					breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		GTCTGGATGGCGTGAGCGAGC	0.517													26	93					0	0	0.183431	0	0	T	564561	C	T	564561	3	4	165	1	0	0	0	0	1	0	0	0	5329	768	27	1	1179	1	EXOC2	6	564561	Missense_Mutation	SNP	C	TCGA-HC-7209-01A-11D-2114-08		564561	170550506	9	7702											
RELN	5649	broad.mit.edu	37	chr7	103179597	103179597	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaatcctcattcacggcaaCgtctgtgctgaccacgtaac	10	9	9	13	3	3	1	2	1	1	0	4	2	4	2	2	2	3	3	2	2	3	2			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr7:103179597C>T	ENST00000428762.1	-	45	7267	c.7108G>A	c.(7108-7110)Gtt>Att	p.V2370I	RELN_ENST00000343529.5_Missense_Mutation_p.V2370I|RELN_ENST00000424685.2_Missense_Mutation_p.V2370I	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2370					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TTCACGGCAACGTCTGTGCTG	0.542													7	46					0	0	0.047766	0	0	T	103179597	C	T	103179597	3	4	165	1	0	0	0	0	1	0	0	0	13272	536	19	1	3358	1	RELN	7	103179597	Missense_Mutation	SNP	C	TCGA-HC-7209-01A-11D-2114-08		103179597	55959066	10	7703											
POTEA	340441	broad.mit.edu	37	chr8	43216290	43216290	+	RNA	DEL	A	A	-																															gaagcagatagaagtggccgAaaaaaaaatgaattttgagg																										TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr8:43216290delA	ENST00000522175.2	+	0	1543							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GAAGTGGCCGAAAAAAAAATG	0.284													3	4	---	---	---	---						-	43216290	A	-	43216290	6	5	165	0	1	1	0	1	0	0	0	0	12309	261	9	0		0	POTEA	8	43216290	RNA	DEL	A	TCGA-HC-7209-01A-11D-2114-08		43216290	103147732	11	7704											
KIFC2	90990	broad.mit.edu	37	chr8	145697577	145697577	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgcagtcgctgttccgggaGatgggggccggccggcagca	5	6	18	12	4	0	1	0	0	0	1	2	2	1	1	3	5	2	5	3	5	0	1			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr8:145697577G>A	ENST00000301332.2	+	14	1919	c.1542G>A	c.(1540-1542)gaG>gaA	p.E514E	KIFC2_ENST00000531423.1_3'UTR|KIFC2_ENST00000301331.5_Silent_p.E262E	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	514	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			TGTTCCGGGAGATGGGGGCCG	0.652													3	74					0	0	0.150653	0	0	A	145697577	G	A	145697577	2	1	165	1	0	0	0	0	0	0	0	1	8355	933	33	2		2	KIFC2	8	145697577	Silent	SNP	G	TCGA-HC-7209-01A-11D-2114-08	102481287	145697577	666445	12	7705											
ABL1	25	broad.mit.edu	37	chr9	133753877	133753877	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aattgacctgtcccaggtgtAtgagctgctagagaaggact	11	10	12	8	0	0	3	0	2	0	1	1	5	1	4	2	2	2	3	2	2	4	3			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr9:133753877A>G	ENST00000318560.5	+	8	1727	c.1346A>G	c.(1345-1347)tAt>tGt	p.Y449C		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	449	Protein kinase.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	TCCCAGGTGTATGAGCTGCTA	0.507			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"								62	178					0	0	0.139131	0	0	G	133753877	A	G	133753877	3	3	165	1	0	0	0	0	1	0	0	0	92	449	16	3	1516	3	ABL1	9	133753877	Missense_Mutation	SNP	A	TCGA-HC-7209-01A-11D-2114-08		133753877	7459554	13	7706											
LDB3	11155	broad.mit.edu	37	chr10	88447004	88447004	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccatcgctgggcaggccCaagcccaaggcagtgacttc	9	6	12	14	1	0	1	0	1	0	0	2	1	0	1	3	3	2	3	3	3	2	1			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr10:88447004C>T	ENST00000429277.2	+	6	1013	c.868C>T	c.(868-870)Caa>Taa	p.Q290*	LDB3_ENST00000361373.4_Intron|LDB3_ENST00000372066.3_Nonsense_Mutation_p.Q175*|LDB3_ENST00000542786.1_3'UTR|LDB3_ENST00000310944.6_Intron|LDB3_ENST00000458213.2_Nonsense_Mutation_p.Q175*|LDB3_ENST00000372056.4_Nonsense_Mutation_p.Q290*|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000263066.6_Nonsense_Mutation_p.Q175*	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN	LIM domain binding 3	280						cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						TGGGCAGGCCCAAGCCCAAGG	0.637													21	82					0	0	0.069288	0	0	T	88447004	C	T	88447004	4	4	165	1	0	0	0	0	0	1	0	0	8736	595	21	2	913	2	LDB3	10	88447004	Nonsense_Mutation	SNP	C	TCGA-HC-7209-01A-11D-2114-08		88447004	47087743	14	7707											
CCDC15	80071	broad.mit.edu	37	chr11	124857585	124857585	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tagagaccagcatgttctccCcaaagaccaagatattctgc	13	9	7	12	0	2	3	0	0	2	3	3	4	2	3	4	0	2	2	4	0	4	4	rs112861775		TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr11:124857585C>A	ENST00000529051.1	+	8	1722	c.1463C>A	c.(1462-1464)cCc>cAc	p.P488H	CCDC15_ENST00000344762.5_Missense_Mutation_p.P488H			Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	488						centrosome				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		CATGTTCTCCCCAAAGACCAA	0.403													5	141					0.014758	0.0155148	0.014758	1	0	A	124857585	C	A	124857585	3	1	165	1	0	0	0	0	1	0	0	0	2802	623	22	4	1489	4	CCDC15	11	124857585	Missense_Mutation	SNP	C	TCGA-HC-7209-01A-11D-2114-08		124857585	10148931	15	7708											
C14orf159	80017	broad.mit.edu	37	chr14	91655506	91655506	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaagattgttgaagatgctgTtgagcaaggtaagcagtgag	13	10	15	3	0	0	5	0	3	0	2	0	6	0	5	0	1	3	6	0	1	4	4			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr14:91655506T>G	ENST00000518868.1	+	12	1877	c.1187T>G	c.(1186-1188)gTt>gGt	p.V396G	C14orf159_ENST00000520328.1_Missense_Mutation_p.V379G|C14orf159_ENST00000523771.1_Missense_Mutation_p.V391G|C14orf159_ENST00000256324.10_Missense_Mutation_p.V396G|C14orf159_ENST00000412671.2_Missense_Mutation_p.V396G|C14orf159_ENST00000428926.2_Missense_Mutation_p.V391G|C14orf159_ENST00000522322.1_Missense_Mutation_p.V391G|C14orf159_ENST00000521077.2_Missense_Mutation_p.V396G|C14orf159_ENST00000523816.1_Missense_Mutation_p.V391G|C14orf159_ENST00000525393.2_Missense_Mutation_p.V267G			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	391						mitochondrion				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		GAAGATGCTGTTGAGCAAGGT	0.532													19	87					0	0	0.108266	0	0	G	91655506	T	G	91655506	3	3	165	1	0	0	0	0	1	0	0	0	1761	1725	60	5	1213	5	C14orf159	14	91655506	Missense_Mutation	SNP	T	TCGA-HC-7209-01A-11D-2114-08		91655506	15694034	16	7709											
AHNAK2	113146	broad.mit.edu	37	chr14	105408253	105408253	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggcggaaggggcctgaatgCggaggtcagtggtcttgagg	7	7	20	7	3	2	2	1	2	1	0	2	4	2	4	1	8	1	0	1	8	2	1	rs112306443		TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr14:105408253C>T	ENST00000333244.5	-	7	13654	c.13535G>A	c.(13534-13536)cGc>cAc	p.R4512H	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4512						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGCCTGAATGCGGAGGTCAGT	0.622													47	106					0	0	0.139131	0	0	T	105408253	C	T	105408253	3	4	165	1	0	0	0	0	1	0	0	0	412	768	27	1	3856	1	AHNAK2	14	105408253	Missense_Mutation	SNP	C	TCGA-HC-7209-01A-11D-2114-08	13752747	105408253	1941287	17	7710											
CD276	80381	broad.mit.edu	37	chr15	73996665	73996665	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtgtgcccctgactggcaaCgtgaccacgtcgcagatggc	7	7	14	13	3	0	3	0	2	0	1	1	3	0	3	3	3	2	2	3	3	1	0			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr15:73996665C>A	ENST00000318443.5	+	6	1523	c.1221C>A	c.(1219-1221)aaC>aaA	p.N407K	CD276_ENST00000537340.2_Missense_Mutation_p.N261K|CD276_ENST00000318424.5_Missense_Mutation_p.N189K|CD276_ENST00000564751.1_Missense_Mutation_p.N189K|CD276_ENST00000561213.1_Missense_Mutation_p.N407K	NM_001024736.1	NP_001019907.1	Q5ZPR3	CD276_HUMAN	CD276 molecule	407	Ig-like C2-type 2.				cell proliferation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of T cell proliferation|regulation of immune response|T cell activation	external side of plasma membrane|integral to membrane	receptor binding			endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						TGACTGGCAACGTGACCACGT	0.647											OREG0023265	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	70					8.88839e-20	1.07184e-19	0.153744	1	0	A	73996665	C	A	73996665	3	1	165	1	0	0	0	0	1	0	0	0	3014	535	19	4	1239	4	CD276	15	73996665	Missense_Mutation	SNP	C	TCGA-HC-7209-01A-11D-2114-08		73996665	28534727	18	7711											
MAN2A2	4122	broad.mit.edu	37	chr15	91450694	91450694	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccttggaaggtgccacccCgggccatcacagaggccaac	9	4	12	16	1	1	1	1	0	0	1	1	2	1	2	6	4	2	0	6	4	2	1			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr15:91450694C>T	ENST00000360468.3	+	7	1183	c.1165C>T	c.(1165-1167)Cgg>Tgg	p.R389W	MAN2A2_ENST00000559717.1_Missense_Mutation_p.R389W|MAN2A2_ENST00000431652.2_5'UTR	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	389					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GGTGCCACCCCGGGCCATCAC	0.607													11	50					0	0	0.105934	0	0	T	91450694	C	T	91450694	3	4	165	1	0	0	0	0	1	0	0	0	9265	643	23	1	1191	1	MAN2A2	15	91450694	Missense_Mutation	SNP	C	TCGA-HC-7209-01A-11D-2114-08	17454029	91450694	11080698	19	7712											
NPC1	4864	broad.mit.edu	37	chr18	21134925	21134925	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagaggcagtaatgttttcGatggctatttgtaagtcaag	12	14	11	4	1	1	1	1	0	0	1	2	2	1	1	0	2	0	5	0	2	5	7			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr18:21134925G>T	ENST00000269228.5	-	9	1904	c.1350C>A	c.(1348-1350)atC>atA	p.I450I	NPC1_ENST00000540608.1_5'UTR|NPC1_ENST00000412552.2_Silent_p.I200I	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	450					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TAATGTTTTCGATGGCTATTT	0.398													8	30					0.0581538	0.0596076	0.058154	1	0	T	21134925	G	T	21134925	2	4	165	1	0	0	0	0	0	0	0	1	10617	1048	37	4		4	NPC1	18	21134925	Silent	SNP	G	TCGA-HC-7209-01A-11D-2114-08		21134925	56942323	20	7713											
KIAA1328	57536	broad.mit.edu	37	chr18	34802090	34802090	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggaatcatggtactttccGactcagtcctctaaaatcaa	12	12	6	11	1	4	0	3	0	1	0	6	2	6	1	2	2	1	1	2	2	5	3			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr18:34802090G>T	ENST00000591619.1	+	10	2408	c.1622G>T	c.(1621-1623)cGa>cTa	p.R541L	KIAA1328_ENST00000280020.5_Missense_Mutation_p.R545L|KIAA1328_ENST00000543923.1_Intron|KIAA1328_ENST00000586135.1_3'UTR			Q86T90	K1328_HUMAN	KIAA1328	545										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		GGTACTTTCCGACTCAGTCCT	0.478													4	15					1.23904e-05	1.37299e-05	0.014758	1	0	T	34802090	G	T	34802090	3	4	165	1	0	0	0	0	1	0	0	0	8267	1058	37	4	1672	4	KIAA1328	18	34802090	Missense_Mutation	SNP	G	TCGA-HC-7209-01A-11D-2114-08	13667165	34802090	43275158	21	7714											
FBXO15	201456	broad.mit.edu	37	chr18	71790685	71790685	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaacatggagttggtagccGtgcagtccatactcggggct	8	10	13	10	2	1	0	1	0	0	0	3	1	2	1	2	4	4	4	2	4	3	3			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr18:71790685G>A	ENST00000269500.5	-	8	1163	c.828C>T	c.(826-828)caC>caT	p.H276H	FBXO15_ENST00000419743.2_Silent_p.H352H	NM_152676.2	NP_689889.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	276										autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		GTTGGTAGCCGTGCAGTCCAT	0.443													3	59					0	0	0.150653	0	0	A	71790685	G	A	71790685	2	1	165	1	0	0	0	0	0	0	0	1	5761	1136	40	1		1	FBXO15	18	71790685	Silent	SNP	G	TCGA-HC-7209-01A-11D-2114-08	36988595	71790685	6286563	22	7715											
CACNA1A	773	broad.mit.edu	37	chr19	13319691	13319692	+	In_Frame_Ins	INS	-	-	GGT																															gtccttgtcggggggcggggINSgatggtggtggtggtggtgg																								rs16052		TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr19:13319691_13319692insGGT	ENST00000360228.5	-	46	6657_6658	c.6658_6659insACC	c.(6658-6660)ccc>ACCccc	p.2219_2220insT	CACNA1A_ENST00000573710.2_In_Frame_Ins_p.2220_2221insT	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	2220	Poly-His.				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GGGGGGCGGGGGAtggtggtgg	0.733													2	4	---	---	---	---						GGT	13319692	-	GGT	13319691	7	5	165	1	0	1	1	0	0	0	0	0	2556	1232	43	0	869	0	CACNA1A	19	13319691	In_Frame_Ins	INS	-	TCGA-HC-7209-01A-11D-2114-08		13319691	45809292	23	7716											
VPS16	64601	broad.mit.edu	37	chr20	2842496	2842496	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctggtgcctgagctcgatggGgtccgcatcttctcccgcag	4	10	13	14	3	2	1	0	1	2	0	5	2	3	1	3	3	2	3	3	3	0	1			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chr20:2842496G>A	ENST00000380445.3	+	10	1017	c.945G>A	c.(943-945)ggG>ggA	p.G315G	VPS16_ENST00000380469.3_Intron|VPS16_ENST00000481812.2_3'UTR	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	315					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						AGCTCGATGGGGTCCGCATCT	0.592													7	24					0	0	0.058154	0	0	A	2842496	G	A	2842496	2	1	165	1	0	0	0	0	0	0	0	1	17253	1219	43	2		2	VPS16	20	2842496	Silent	SNP	G	TCGA-HC-7209-01A-11D-2114-08		2842496	60183024	24	7717											
IL3RA	3563	broad.mit.edu	37	chrX	1501315	1501315	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgggcaaagccggcctggAggagtgtctggtgactgaag	8	6	19	8	2	1	2	0	2	1	0	1	4	1	4	2	6	1	1	2	6	2	0			TCGA-HC-7209-01A-11D-2114-08	TCGA-HC-7209-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	12dd9452-9a7b-4193-85c7-573b088b1979	77aa04fb-bbf6-4d20-b6c2-e9d4647bf6f6	g.chrX:1501315A>G	ENST00000331035.4	+	12	1443	c.1094A>G	c.(1093-1095)gAg>gGg	p.E365G	IL3RA_ENST00000381469.2_Missense_Mutation_p.E287G	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	365						integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GCCGGCCTGGAGGAGTGTCTG	0.637													32	161					0	0	0.074837	0	0	G	1501315	A	G	1501315	3	3	165	1	0	0	0	0	1	0	0	0	7739	304	11	3	1136	3	IL3RA	23	1501315	Missense_Mutation	SNP	A	TCGA-HC-7209-01A-11D-2114-08		1501315	153769245	25	7718											
PARK7	0	broad.mit.edu	37	chr1	8025453	8025453	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gccgtgatgtggtcatttgtCctgatgccagccttgaagat	7	13	12	9	1	1	4	1	3	0	1	2	4	2	4	4	1	2	0	4	1	1	2			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr1:8025453C>G	ENST00000493678.1	+	3	227	c.160C>G	c.(160-162)Cct>Gct	p.P54A	PARK7_ENST00000497113.1_3'UTR|PARK7_ENST00000338639.5_Missense_Mutation_p.P54A|PARK7_ENST00000377488.1_Missense_Mutation_p.P54A|PARK7_ENST00000377491.1_Missense_Mutation_p.P54A|PARK7_ENST00000377493.5_Missense_Mutation_p.P54A			Q99497	PARK7_HUMAN	parkinson protein 7	54					autophagy|cell death|cellular response to hydrogen peroxide|inflammatory response|mitochondrion organization|negative regulation of cell death|negative regulation of protein binding|neuroprotection|protein stabilization|regulation of androgen receptor signaling pathway|regulation of inflammatory response|single fertilization	mitochondrion|nucleus	mRNA binding|peptidase activity|peroxidase activity|protein homodimerization activity			large_intestine(1)	1	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;1.28e-70)|GBM - Glioblastoma multiforme(8;3.05e-36)|Colorectal(212;6.83e-08)|COAD - Colon adenocarcinoma(227;7.51e-06)|Kidney(185;5.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000414)|KIRC - Kidney renal clear cell carcinoma(229;0.000967)|STAD - Stomach adenocarcinoma(132;0.00102)|READ - Rectum adenocarcinoma(331;0.0649)		GGTCATTTGTCCTGATGCCAG	0.408													15	48					0	0	1	0	0	G	8025453	C	G	8025453	3	3	166	1	0	0	0	0	1	0	0	0	11497	855	30	4	166	4	PARK7	1	8025453	Missense_Mutation	SNP	C	TCGA-HC-7210-01A-11D-2114-08		8025453	241225168	1	7719											
ZC3H12A	80149	broad.mit.edu	37	chr1	37941263	37941263	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgaaggtggacttcttcCggaagctgggctattcatcc	9	11	12	9	1	2	2	1	1	1	1	4	4	4	4	2	4	1	2	2	4	3	4			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr1:37941263C>T	ENST00000373087.6	+	2	282	c.166C>T	c.(166-168)Cgg>Tgg	p.R56W		NM_025079.2	NP_079355.2	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	56					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGACTTCTTCCGGAAGCTGGG	0.632													12	49					0	0	1	0	0	T	37941263	C	T	37941263	3	4	166	1	0	0	0	0	1	0	0	0	17620	643	23	1	168	1	ZC3H12A	1	37941263	Missense_Mutation	SNP	C	TCGA-HC-7210-01A-11D-2114-08	29915810	37941263	211309358	2	7720											
ZCCHC11	23318	broad.mit.edu	37	chr1	52941095	52941095	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gtagacttatttccacccttCgtctgaggacaggcaaaata	12	11	8	10	1	1	2	0	1	1	1	3	3	2	3	2	2	0	2	2	2	5	5			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr1:52941095C>G	ENST00000371544.3	-	13	2398	c.2136G>C	c.(2134-2136)acG>acC	p.T712T	ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Silent_p.T712T	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	712					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						TTCCACCCTTCGTCTGAGGAC	0.423													27	103					0	0	1	0	0	G	52941095	C	G	52941095	2	3	166	1	0	0	0	0	0	0	0	1	17639	871	31	4		4	ZCCHC11	1	52941095	Silent	SNP	C	TCGA-HC-7210-01A-11D-2114-08	14999832	52941095	196309526	3	7721											
VCAM1	7412	broad.mit.edu	37	chr1	101198104	101198104	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggagcaggcagctccctaaCggggagctacagcctctttc	8	8	12	13	1	1	0	0	0	1	0	3	2	2	2	2	4	6	4	2	4	2	3			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr1:101198104C>T	ENST00000294728.2	+	7	1757	c.1656C>T	c.(1654-1656)aaC>aaT	p.N552N	VCAM1_ENST00000347652.2_Silent_p.N460N|VCAM1_ENST00000370119.4_Silent_p.N490N|VCAM1_ENST00000370115.1_Silent_p.N353N	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	552	Ig-like C2-type 6.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	AGCTCCCTAACGGGGAGCTAC	0.483													17	72					0	0	1	0	0	T	101198104	C	T	101198104	2	4	166	1	0	0	0	0	0	0	0	1	17197	535	19	1		1	VCAM1	1	101198104	Silent	SNP	C	TCGA-HC-7210-01A-11D-2114-08	48257009	101198104	148052517	4	7722											
F5	2153	broad.mit.edu	37	chr1	169489881	169489881	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctcttttattgtagaggCatctgaattgccattaaaat	12	17	6	6	0	2	2	0	1	2	1	3	2	2	2	1	1	1	2	1	1	5	7			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr1:169489881C>T	ENST00000367796.3	-	22	6286	c.6085G>A	c.(6085-6087)Gcc>Acc	p.A2029T	F5_ENST00000367797.3_Missense_Mutation_p.A2024T			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	2024	F5/8 type C 1.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	ATTGTAGAGGCATCTGAATTG	0.323													9	47					0	0	1	0	0	T	169489881	C	T	169489881	3	4	166	1	0	0	0	0	1	0	0	0	5376	710	25	2	620	2	F5	1	169489881	Missense_Mutation	SNP	C	TCGA-HC-7210-01A-11D-2114-08	68291777	169489881	79760740	5	7723											
KIF21B	23046	broad.mit.edu	37	chr1	200944676	200944676	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acttcttgatgccgttatctCgggagccactgaacaggatg	9	11	11	10	2	2	2	0	2	2	0	3	4	2	4	2	2	3	1	2	2	2	3			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr1:200944676C>T	ENST00000332129.2	-	32	4842	c.4526G>A	c.(4525-4527)cGa>cAa	p.R1509Q	KIF21B_ENST00000360529.5_Missense_Mutation_p.R1509Q|KIF21B_ENST00000422435.2_Missense_Mutation_p.R1522Q|KIF21B_ENST00000461742.2_Missense_Mutation_p.R1522Q	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	1522					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GCCGTTATCTCGGGAGCCACT	0.597													18	56					0	0	1	0	0	T	200944676	C	T	200944676	3	4	166	1	0	0	0	0	1	0	0	0	8331	884	31	1	360	1	KIF21B	1	200944676	Missense_Mutation	SNP	C	TCGA-HC-7210-01A-11D-2114-08	31454795	200944676	48305945	6	7724											
ZNF512	84450	broad.mit.edu	37	chr2	27822524	27822524	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagactatcgagaatttcctCagaagaagcataagctttat	16	11	7	7	1	1	4	1	0	0	4	3	5	2	4	1	0	2	2	1	0	7	5			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr2:27822524C>T	ENST00000355467.4	+	4	435	c.352C>T	c.(352-354)Cag>Tag	p.Q118*	ZNF512_ENST00000379717.1_Nonsense_Mutation_p.Q117*|ZNF512_ENST00000413371.2_Nonsense_Mutation_p.Q41*|ZNF512_ENST00000556601.1_Silent_p.L28L|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000494548.1_3'UTR|ZNF512_ENST00000416005.2_Nonsense_Mutation_p.Q117*			Q96ME7	ZN512_HUMAN	zinc finger protein 512	118					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					AGAATTTCCTCAGAAGAAGCA	0.418													10	47					0	0	1	0	0	T	27822524	C	T	27822524	4	4	166	1	0	0	0	0	0	1	0	0	18013	827	29	2	366	2	ZNF512	2	27822524	Nonsense_Mutation	SNP	C	TCGA-HC-7210-01A-11D-2114-08		27822524	215376849	7	7725											
BIRC6	57448	broad.mit.edu	37	chr2	32712725	32712725	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aattttcagtatcacagtctCccactggaacagatgattca	13	12	6	10	0	4	2	3	1	1	1	5	3	4	3	1	1	1	1	1	1	3	4			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr2:32712725C>A	ENST00000421745.2	+	41	7959	c.7825C>A	c.(7825-7827)Ccc>Acc	p.P2609T		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2609					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ATCACAGTCTCCCACTGGAAC	0.328													25	85					3.01185e-09	3.1255e-09	1	1	0	A	32712725	C	A	32712725	3	1	166	1	0	0	0	0	1	0	0	0	1437	855	30	4	7987	4	BIRC6	2	32712725	Missense_Mutation	SNP	C	TCGA-HC-7210-01A-11D-2114-08	4890201	32712725	210486648	8	7726											
ATIC	471	broad.mit.edu	37	chr2	216211488	216211488	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgtgttcctcaggttatcGgcattggagcaggacagcag	8	11	13	9	1	2	0	1	0	1	0	4	2	3	2	1	4	2	5	1	4	1	3			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr2:216211488G>A	ENST00000435675.1	+	13	1715	c.1324G>A	c.(1324-1326)Ggc>Agc	p.G442S	ATIC_ENST00000540518.1_Missense_Mutation_p.G384S|ATIC_ENST00000236959.9_Missense_Mutation_p.G443S			P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	443					IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Tetrahydrofolic acid(DB00116)	TCAGGTTATCGGCATTGGAGC	0.433			T	ALK	ALCL								36	139					0	0	1	0	0	A	216211488	G	A	216211488	3	1	166	1	0	0	0	0	1	0	0	0	1104	1116	39	1	1381	1	ATIC	2	216211488	Missense_Mutation	SNP	G	TCGA-HC-7210-01A-11D-2114-08	183498763	216211488	26987885	9	7727											
ARL4C	10123	broad.mit.edu	37	chr2	235405080	235405080	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgttgctcagcttgatctTctcggtgttgaagccgatgg	5	13	13	10	3	3	2	1	2	2	0	4	3	3	2	2	2	3	4	2	2	1	4			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr2:235405080T>A	ENST00000390645.2	-	1	617	c.151A>T	c.(151-153)Aag>Tag	p.K51*	ARL4C_ENST00000339728.3_Nonsense_Mutation_p.K51*	NM_005737.3	NP_005728.2	P56559	ARL4C_HUMAN	ADP-ribosylation factor-like 4C	51					endocytic recycling|small GTPase mediated signal transduction	cytoplasm|filopodium|nucleus|plasma membrane	alpha-tubulin binding|GTP binding|GTPase activity			endometrium(1)|ovary(1)|skin(1)|urinary_tract(1)	4		Breast(86;0.000596)|Renal(207;0.00339)|all_lung(227;0.00354)|all_hematologic(139;0.0494)|Lung NSC(271;0.0496)|Lung SC(224;0.164)|all_neural(83;0.173)		Epithelial(121;2.6e-19)|BRCA - Breast invasive adenocarcinoma(100;0.000296)|Lung(119;0.002)|LUSC - Lung squamous cell carcinoma(224;0.0048)		AGCTTGATCTTCTCGGTGTTG	0.622													14	55					0	0	1	0	0	A	235405080	T	A	235405080	4	1	166	1	0	0	0	0	0	1	0	0	936	1792	62	5	431	5	ARL4C	2	235405080	Nonsense_Mutation	SNP	T	TCGA-HC-7210-01A-11D-2114-08	19193592	235405080	7794293	10	7728											
DYNC1LI1	51143	broad.mit.edu	37	chr3	32571120	32571120	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagatctatttggtgttcgTggggagcctcctgggactct	6	13	13	9	1	2	1	0	0	2	1	4	3	3	3	2	4	1	1	2	4	1	3			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr3:32571120T>G	ENST00000273130.4	-	11	1321	c.1218A>C	c.(1216-1218)ccA>ccC	p.P406P	DYNC1LI1_ENST00000432458.2_Silent_p.P290P	NM_016141.3	NP_057225.2	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain 1	406					cell division|interspecies interaction between organisms|mitosis|positive regulation of mitotic cell cycle spindle assembly checkpoint|transport	centrosome|condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|plasma membrane|spindle pole	ATP binding|motor activity			kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						TTGGTGTTCGTGGGGAGCCTC	0.373													5	17					0	0	1	0	0	G	32571120	T	G	32571120	2	3	166	1	0	0	0	0	0	0	0	1	4870	1683	59	5		5	DYNC1LI1	3	32571120	Silent	SNP	T	TCGA-HC-7210-01A-11D-2114-08		32571120	165451310	11	7729											
OPA1	4976	broad.mit.edu	37	chr3	193380716	193380716	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taaccacagtccggaagaacCttgaatcccgaggagtagaa	15	6	10	10	2	0	3	0	1	0	2	2	6	2	5	4	2	2	1	4	2	6	3			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr3:193380716C>G	ENST00000361510.2	+	26	2860	c.2626C>G	c.(2626-2628)Ctt>Gtt	p.L876V	OPA1_ENST00000361908.3_Missense_Mutation_p.L858V|OPA1_ENST00000361715.2_Missense_Mutation_p.L840V|OPA1_ENST00000361150.2_Missense_Mutation_p.L822V|OPA1_ENST00000392438.3_Missense_Mutation_p.L821V|OPA1_ENST00000361828.2_Missense_Mutation_p.L839V	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	821					apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		CCGGAAGAACCTTGAATCCCG	0.388													17	59					0	0	1	0	0	G	193380716	C	G	193380716	3	3	166	1	0	0	0	0	1	0	0	0	10919	681	24	4	2728	4	OPA1	3	193380716	Missense_Mutation	SNP	C	TCGA-HC-7210-01A-11D-2114-08	160809596	193380716	4641714	12	7730											
SLAIN2	57606	broad.mit.edu	37	chr4	48371866	48371866	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttttgttgtcttcttctagGctgtattcatcaccaaagaa	9	18	6	8	0	5	1	2	0	3	1	5	1	5	1	1	1	0	3	1	1	4	8			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr4:48371866G>T	ENST00000264313.6	+	2	808	c.389_splice	c.e2-1	p.W130_splice	SLAIN2_ENST00000506375.1_3'UTR	NM_020846.1	NP_065897.1	Q9P270	SLAI2_HUMAN	SLAIN motif family, member 2	130						centrosome				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)	13						CTTCTTCTAGGCTGTATTCAT	0.373													15	57					1.37285e-15	1.48053e-15	1	1	0	T	48371866	G	T	48371866	5	4	166	1	0	0	0	0	0	0	1	0	14421	1217	42	4	396	4	SLAIN2	4	48371866	Splice_Site	SNP	G	TCGA-HC-7210-01A-11D-2114-08		48371866	142782410	13	7731											
TIGD2	166815	broad.mit.edu	37	chr4	90034422	90034422	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgggattccagtgtccggAacgatttgtgcaaaacaagc	12	9	12	8	2	0	0	0	0	0	0	2	4	2	2	2	2	4	1	2	2	4	2			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr4:90034422A>G	ENST00000317005.2	+	1	455	c.297A>G	c.(295-297)ggA>ggG	p.G99G		NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	99	HTH CENPB-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		CAGTGTCCGGAACGATTTGTG	0.418													11	118					0	0	1	0	0	G	90034422	A	G	90034422	2	3	166	1	0	0	0	0	0	0	0	1	15956	233	9	3		3	TIGD2	4	90034422	Silent	SNP	A	TCGA-HC-7210-01A-11D-2114-08	41662556	90034422	101119854	14	7732											
LARP1B	55132	broad.mit.edu	37	chr4	129121699	129121699	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaaacgcttgggaattggtCagtcccaagaaatgaatacc	15	8	10	8	1	1	2	1	1	0	1	2	4	2	3	2	2	2	1	2	2	7	3			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr4:129121699C>T	ENST00000326639.6	+	17	2399	c.2188C>T	c.(2188-2190)Cag>Tag	p.Q730*	LARP1B_ENST00000264584.5_Nonsense_Mutation_p.Q671*|LARP1B_ENST00000506199.1_3'UTR|LARP1B_ENST00000441387.1_Nonsense_Mutation_p.Q730*|LARP1B_ENST00000354456.3_Nonsense_Mutation_p.Q149*	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	730							RNA binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						GGGAATTGGTCAGTCCCAAGA	0.303													10	17					0	0	1	0	0	T	129121699	C	T	129121699	4	4	166	1	0	0	0	0	0	1	0	0	8668	827	29	2	2380	2	LARP1B	4	129121699	Nonsense_Mutation	SNP	C	TCGA-HC-7210-01A-11D-2114-08	39087277	129121699	62032577	15	7733											
SMARCA5	8467	broad.mit.edu	37	chr4	144466687	144466687	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcctccacgtttatttgAattactggaaaaagaaattc	13	15	5	8	1	0	2	0	1	0	1	3	3	2	3	2	1	1	1	2	1	6	6			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr4:144466687A>T	ENST00000283131.3	+	18	2810	c.2348A>T	c.(2347-2349)gAa>gTa	p.E783V		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	783					CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					CGTTTATTTGAATTACTGGAA	0.328													15	59					0	0	1	0	0	T	144466687	A	T	144466687	3	4	166	1	0	0	0	0	1	0	0	0	14825	246	9	5	2418	5	SMARCA5	4	144466687	Missense_Mutation	SNP	A	TCGA-HC-7210-01A-11D-2114-08	15344988	144466687	46687589	16	7734											
FBN2	2201	broad.mit.edu	37	chr5	127710364	127710364	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacagccaggcctgggggAcagtcacagcggaaggaccc	10	2	14	15	1	1	0	1	0	0	0	1	3	1	3	4	5	2	0	4	5	1	0			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr5:127710364A>G	ENST00000508053.1	-	21	3026	c.2052T>C	c.(2050-2052)tgT>tgC	p.C684C	FBN2_ENST00000511489.1_5'UTR|FBN2_ENST00000508989.1_Silent_p.C651C|FBN2_ENST00000262464.4_Silent_p.C684C			P35556	FBN2_HUMAN	fibrillin 2	684	EGF-like 10; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GGCCTGGGGGACAGTCACAGC	0.502													24	68					0	0	1	0	0	G	127710364	A	G	127710364	2	3	166	1	0	0	0	0	0	0	0	1	5736	273	10	3		3	FBN2	5	127710364	Silent	SNP	A	TCGA-HC-7210-01A-11D-2114-08		127710364	53204896	17	7735											
SLC26A8	116369	broad.mit.edu	37	chr6	35927511	35927511	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcttttaacagcttatgctTtaggtagtaaacatttacaa	13	16	5	7	0	1	0	0	0	1	0	1	0	1	0	0	1	5	4	0	1	8	9			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr6:35927511T>C	ENST00000490799.1	-	15	2064	c.1711A>G	c.(1711-1713)Aag>Gag	p.K571E	SLC26A8_ENST00000394602.2_Missense_Mutation_p.K466E|SLC26A8_ENST00000355574.2_Missense_Mutation_p.K571E	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	571	STAS.				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						AGCTTATGCTTTAGGTAGTAA	0.473													22	100					0	0	1	0	0	C	35927511	T	C	35927511	3	2	166	1	0	0	0	0	1	0	0	0	14578	1850	64	3	1225	3	SLC26A8	6	35927511	Missense_Mutation	SNP	T	TCGA-HC-7210-01A-11D-2114-08		35927511	135187556	18	7736											
AUTS2	26053	broad.mit.edu	37	chr7	70252229	70252229	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcggccacaaggatggcccCagtgtgcagaactttagcaa	11	8	11	11	1	0	1	0	0	0	1	1	2	0	2	3	3	3	2	3	3	4	3			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr7:70252229C>A	ENST00000342771.4	+	18	2664	c.2343C>A	c.(2341-2343)ccC>ccA	p.P781P	AUTS2_ENST00000406775.2_Silent_p.P757P	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	781										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		AGGATGGCCCCAGTGTGCAGA	0.532													13	37					2.31682e-05	2.35973e-05	1	1	0	A	70252229	C	A	70252229	2	1	166	1	0	0	0	0	0	0	0	1	1223	581	21	4		4	AUTS2	7	70252229	Silent	SNP	C	TCGA-HC-7210-01A-11D-2114-08		70252229	88886434	19	7737											
RELN	5649	broad.mit.edu	37	chr7	103180802	103180802	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaactcctgaagaagactccAcgagaggccaccgttgagag	13	5	12	11	2	0	5	0	2	0	4	2	8	2	5	4	1	1	1	4	1	3	1			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr7:103180802A>G	ENST00000428762.1	-	44	6931	c.6772T>C	c.(6772-6774)Tgg>Cgg	p.W2258R	RELN_ENST00000343529.5_Missense_Mutation_p.W2258R|RELN_ENST00000424685.2_Missense_Mutation_p.W2258R	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2258					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGAAGACTCCACGAGAGGCCA	0.517													21	102					0	0	1	0	0	G	103180802	A	G	103180802	3	3	166	1	0	0	0	0	1	0	0	0	13272	159	6	3	3698	3	RELN	7	103180802	Missense_Mutation	SNP	A	TCGA-HC-7210-01A-11D-2114-08	32928573	103180802	55957861	20	7738											
CDHR3	222256	broad.mit.edu	37	chr7	105660967	105660967	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccttgattccagccccagatCtttccgttattccattggcc	6	14	6	15	1	1	2	0	1	1	1	4	2	4	2	7	1	1	1	7	1	1	6			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr7:105660967C>T	ENST00000542731.1	+	13	1910	c.1802C>T	c.(1801-1803)tCt>tTt	p.S601F	CDHR3_ENST00000343407.5_Intron|CDHR3_ENST00000470188.1_Intron|CDHR3_ENST00000317716.9_Missense_Mutation_p.S601F|CDHR3_ENST00000478080.1_Missense_Mutation_p.S513F			Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	601	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						AGCCCCAGATCTTTCCGTTAT	0.493													19	61					0	0	1	0	0	T	105660967	C	T	105660967	3	4	166	1	0	0	0	0	1	0	0	0	3142	913	32	2	1852	2	CDHR3	7	105660967	Missense_Mutation	SNP	C	TCGA-HC-7210-01A-11D-2114-08	2480165	105660967	53477696	21	7739											
TSPAN12	23554	broad.mit.edu	37	chr7	120455842	120455842	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctacacagaaaatgacaaGcaaacttccaaagtactgta	18	9	5	9	0	1	2	0	1	1	1	2	2	2	2	1	0	4	3	1	0	8	5			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr7:120455842G>A	ENST00000222747.3	-	5	908	c.301C>T	c.(301-303)Ctt>Ttt	p.L101F	TSPAN12_ENST00000415871.1_Missense_Mutation_p.L101F	NM_012338.3	NP_036470.1	O95859	TSN12_HUMAN	tetraspanin 12	101			L -> H (in EVR5).		angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation	integral to plasma membrane|membrane fraction				endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1)	10	all_neural(327;0.117)					AAAATGACAAGCAAACTTCCA	0.343													4	34					0	0	1	0	0	A	120455842	G	A	120455842	3	1	166	1	0	0	0	0	1	0	0	0	16697	971	34	2	632	2	TSPAN12	7	120455842	Missense_Mutation	SNP	G	TCGA-HC-7210-01A-11D-2114-08	14794875	120455842	38682821	22	7740											
HIPK2	28996	broad.mit.edu	37	chr7	139285234	139285234	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggctgctgccgcatcacgtgGgccacacccacatttaaggg	8	7	12	14	2	1	0	1	0	0	0	1	0	1	0	3	3	2	3	3	3	1	2			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr7:139285234G>A	ENST00000406875.3	-	11	2458	c.2364C>T	c.(2362-2364)gcC>gcT	p.A788A	HIPK2_ENST00000428878.2_Silent_p.A761A|HIPK2_ENST00000342645.6_Silent_p.A788A	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	788	Interaction with CTBP1 (By similarity).|Interaction with HMGA1 (By similarity).|Interaction with POU4F1 (By similarity).|Interaction with SKI and SMAD1.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GCATCACGTGGGCCACACCCA	0.567													14	56					0	0	1	0	0	A	139285234	G	A	139285234	2	1	166	1	0	0	0	0	0	0	0	1	7158	1219	43	2		2	HIPK2	7	139285234	Silent	SNP	G	TCGA-HC-7210-01A-11D-2114-08	18829392	139285234	19853429	23	7741											
MEGF9	1955	broad.mit.edu	37	chr9	123367897	123367897	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaaccaaaatggtagaaccTtcaggtgttggaagaataac	17	8	10	6	0	1	2	1	0	0	2	1	4	1	3	2	3	3	2	2	3	8	4			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr9:123367897T>C	ENST00000373930.3	-	6	1491	c.1380A>G	c.(1378-1380)gaA>gaG	p.E460E	MEGF9_ENST00000426959.1_Silent_p.E497E	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	460						integral to membrane	calcium ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						TGGTAGAACCTTCAGGTGTTG	0.353													3	9					0	0	1	0	0	C	123367897	T	C	123367897	2	2	166	1	0	0	0	0	0	0	0	1	9514	1606	56	3		3	MEGF9	9	123367897	Silent	SNP	T	TCGA-HC-7210-01A-11D-2114-08		123367897	17845534	24	7742											
LHX3	8022	broad.mit.edu	37	chr9	139091725	139091725	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgcacttggtcccgaagcGcctgcgggacgcacagggcc	6	4	16	15	5	0	0	0	0	0	0	1	2	1	1	3	4	2	2	3	4	1	1			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr9:139091725G>A	ENST00000371746.3	-	3	386	c.266_splice	c.e3-1	p.R90_splice	LHX3_ENST00000371748.5_Splice_Site_p.R85_splice	NM_014564.3	NP_055379.1	Q9UBR4	LHX3_HUMAN	LIM homeobox 3	85	LIM zinc-binding 2.				inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		GTCCCGAAGCGCCTGCGGGAC	0.721													3	7					0	0	1	0	0	A	139091725	G	A	139091725	5	1	166	1	0	0	0	0	0	0	1	0	8812	1101	38	1	956	1	LHX3	9	139091725	Splice_Site	SNP	G	TCGA-HC-7210-01A-11D-2114-08	15723828	139091725	2121706	25	7743											
DIP2C	22982	broad.mit.edu	37	chr10	408505	408505	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taggacattgcaggggtgcaGagagccctccagaaaaagct	13	6	13	9	0	0	2	0	0	0	2	1	4	1	3	2	3	4	3	2	3	3	2			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr10:408505G>A	ENST00000280886.6	-	22	2806	c.2719C>T	c.(2719-2721)Ctg>Ttg	p.L907L	DIP2C_ENST00000540204.1_Silent_p.L228L|DIP2C_ENST00000381496.3_3'UTR	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	907						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CAGGGGTGCAGAGAGCCCTCC	0.537													11	48					0	0	1	0	0	A	408505	G	A	408505	2	1	166	1	0	0	0	0	0	0	0	1	4557	933	33	2		2	DIP2C	10	408505	Silent	SNP	G	TCGA-HC-7210-01A-11D-2114-08		408505	135126242	26	7744											
A1CF	29974	broad.mit.edu	37	chr10	52603796	52603796	+	Frame_Shift_Del	DEL	T	T	-																															tcaaaaaggtctcggggaagTtttccaataaaaatttcaca																										TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr10:52603796delT	ENST00000395489.2	-	6	561	c.165delA	c.(163-165)aafs	p.K55fs	A1CF_ENST00000395495.1_Frame_Shift_Del_p.K62fs|A1CF_ENST00000282641.2_Frame_Shift_Del_p.K62fs|A1CF_ENST00000373993.1_Frame_Shift_Del_p.K62fs|A1CF_ENST00000374001.1_Frame_Shift_Del_p.K62fs|A1CF_ENST00000373995.3_Frame_Shift_Del_p.K70fs|A1CF_ENST00000373997.3_Frame_Shift_Del_p.K62fs	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	62					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						CTCGGGGAAGTTTTCCAATAA	0.403													36	82	---	---	---	---						-	52603796	T	-	52603796	7	5	166	1	0	1	0	1	0	0	0	0	2	1722	60	0	1638	0	A1CF	10	52603796	Frame_Shift_Del	DEL	T	TCGA-HC-7210-01A-11D-2114-08	52195291	52603796	82930951	27	7745											
C10orf137	26098	broad.mit.edu	37	chr10	127441484	127441484	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttatagaagaatttggccagGtacatggagaaaatgactgt	15	11	11	4	0	0	4	0	1	0	3	0	5	0	4	1	3	1	1	1	3	7	4			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr10:127441484G>C	ENST00000337623.3	+	22	3396		c.e22+1		C10orf137_ENST00000356792.4_Splice_Site	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN	chromosome 10 open reading frame 137						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				ATTTGGCCAGGTACATGGAGA	0.403													29	47					0	0	1	0	0	C	127441484	G	C	127441484	5	2	166	1	0	0	0	0	0	0	1	0	1598	1275	44	4	3378	4	C10orf137	10	127441484	Splice_Site	SNP	G	TCGA-HC-7210-01A-11D-2114-08	74837688	127441484	8093263	28	7746											
KNDC1	85442	broad.mit.edu	37	chr10	135015083	135015083	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtcggatgtggactcggAcgcactgtcacggggaaact	8	8	16	9	4	1	0	1	0	0	0	3	4	1	4	0	6	1	1	0	6	1	0			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr10:135015083A>G	ENST00000304613.3	+	17	3089	c.3068A>G	c.(3067-3069)gAc>gGc	p.D1023G	KNDC1_ENST00000368571.2_Missense_Mutation_p.D958G|KNDC1_ENST00000368572.2_Missense_Mutation_p.D1025G			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1023					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GTGGACTCGGACGCACTGTCA	0.622													16	74					0	0	1	0	0	G	135015083	A	G	135015083	3	3	166	1	0	0	0	0	1	0	0	0	8469	275	10	3	3134	3	KNDC1	10	135015083	Missense_Mutation	SNP	A	TCGA-HC-7210-01A-11D-2114-08	7573599	135015083	519664	29	7747											
ARID2	196528	broad.mit.edu	37	chr12	46245168	46245168	+	Frame_Shift_Del	DEL	A	A	-																															ctccacagattcctccccctAataatgcaagagctcctagc																										TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr12:46245168delA	ENST00000334344.6	+	15	3434	c.3262delA	c.(3262-3264)atfs	p.N1089fs	ARID2_ENST00000444670.1_Frame_Shift_Del_p.N699fs|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Frame_Shift_Del_p.N940fs	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1089	Gln-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TCCTCCCCCTAATAATGCAAG	0.522			"N, S, F"		hepatocellular carcinoma								30	111	---	---	---	---						-	46245168	A	-	46245168	7	5	166	1	0	1	0	1	0	0	0	0	912	362	13	0	3320	0	ARID2	12	46245168	Frame_Shift_Del	DEL	A	TCGA-HC-7210-01A-11D-2114-08		46245168	87606727	30	7748											
KRT6C	286887	broad.mit.edu	37	chr12	52863587	52863587	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggccttctgcagggcatcctCcagcccttccagcttgttct	4	12	9	16	0	2	0	0	0	2	0	5	0	5	0	5	2	3	4	5	2	0	4			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr12:52863587C>T	ENST00000252250.6	-	7	1338	c.1291G>A	c.(1291-1293)Gag>Aag	p.E431K		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	431	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		AGGGCATCCTCCAGCCCTTCC	0.597													18	66					0	0	1	0	0	T	52863587	C	T	52863587	3	4	166	1	0	0	0	0	1	0	0	0	8525	864	30	2	415	2	KRT6C	12	52863587	Missense_Mutation	SNP	C	TCGA-HC-7210-01A-11D-2114-08	6618419	52863587	80988308	31	7749											
HNRNPC	3183	broad.mit.edu	37	chr14	21679710	21679710	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgctcctcttctgacttaTcattcttcatctctactgcg	5	18	4	14	1	7	1	2	1	5	0	9	1	8	1	1	0	3	1	1	0	2	5			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr14:21679710T>C	ENST00000430246.2	-	7	3604	c.653A>G	c.(652-654)gAt>gGt	p.D218G	HNRNPC_ENST00000449098.1_Missense_Mutation_p.D218G|HNRNPC_ENST00000320084.7_Missense_Mutation_p.D231G|HNRNPC_ENST00000556142.1_Intron|HNRNPC_ENST00000420743.2_Missense_Mutation_p.D231G|HNRNPC_ENST00000555309.1_Missense_Mutation_p.D230G|HNRNPC_ENST00000554969.1_Missense_Mutation_p.D218G|HNRNPC_ENST00000557201.1_Missense_Mutation_p.D231G|HNRNPC_ENST00000555914.1_Missense_Mutation_p.D217G|HNRNPC_ENST00000556897.1_Missense_Mutation_p.D218G|HNRNPC_ENST00000556628.1_Missense_Mutation_p.D151G|HNRNPC_ENST00000554455.1_Missense_Mutation_p.D231G|HNRNPC_ENST00000556513.1_Intron|HNRNPC_ENST00000553753.1_Missense_Mutation_p.D218G|HNRNPC_ENST00000553300.1_Missense_Mutation_p.D218G|HNRNPC_ENST00000336053.6_Missense_Mutation_p.D218G|HNRNPC_ENST00000555883.1_Missense_Mutation_p.D175G			P07910	HNRPC_HUMAN	heterogeneous nuclear ribonucleoprotein C (C1/C2)	231	Asp/Glu-rich (acidic).					catalytic step 2 spliceosome|nucleoplasm	identical protein binding|nucleotide binding|RNA binding			breast(1)|liver(1)|lung(6)|skin(1)	9	all_cancers(95;0.00176)		Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	GBM - Glioblastoma multiforme(265;0.00783)		TTCTGACTTATCATTCTTCAT	0.507													7	6					0	0	1	0	0	C	21679710	T	C	21679710	3	2	166	1	0	0	0	0	1	0	0	0	7303	1435	50	3	236	3	HNRNPC	14	21679710	Missense_Mutation	SNP	T	TCGA-HC-7210-01A-11D-2114-08		21679710	85669830	32	7750											
FOXA1	3169	broad.mit.edu	37	chr14	38061220	38061228	+	In_Frame_Del	DEL	CGTTCTCGA	CGTTCTCGA	-																															ctggcggcgcaagtagcagcCgttctcgaacatgttgccgg																										TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr14:38061220_38061228delCGTTCTCGA	ENST00000250448.2	-	2	822_830	c.761_769delTCGAGAACG	c.(760-771)tgc>t	p.FENG254del	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_In_Frame_Del_p.FENG221del	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	254					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		AAGTAGCAGCCGTTCTCGAACATGTTGCC	0.694													7	18	---	---	---	---						-	38061228	CGTTCTCGA	-	38061220	7	5	166	1	0	1	0	1	0	0	0	0	6022	652	23	0	653	0	FOXA1	14	38061220	In_Frame_Del	DEL	CGTTCTCGA	TCGA-HC-7210-01A-11D-2114-08	16381510	38061220	69288320	33	7751											
AHNAK2	113146	broad.mit.edu	37	chr14	105416337	105416337	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaacttgctgtctttggcAgtcacatccttgtcggccag	6	14	10	11	1	2	1	1	1	1	0	4	1	3	1	2	2	2	2	2	2	1	4			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr14:105416337A>C	ENST00000333244.5	-	7	5570	c.5451T>G	c.(5449-5451)acT>acG	p.T1817T	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1817						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGTCTTTGGCAGTCACATCCT	0.612													7	6					0	0	1	0	0	C	105416337	A	C	105416337	2	2	166	1	0	0	0	0	0	0	0	1	412	175	7	5		5	AHNAK2	14	105416337	Silent	SNP	A	TCGA-HC-7210-01A-11D-2114-08	67355117	105416337	1933203	34	7752											
RYR3	6263	broad.mit.edu	37	chr15	34137219	34137219	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgccctggccatcatccatAccatcatctctctagtctgt	7	13	6	15	0	5	0	2	0	3	0	7	0	6	0	4	1	2	0	4	1	2	2			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr15:34137219A>G	ENST00000389232.4	+	93	13523	c.13453A>G	c.(13453-13455)Acc>Gcc	p.T4485A	RYR3_ENST00000415757.3_Missense_Mutation_p.T4480A	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4485					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CATCATCCATACCATCATCTC	0.498													13	66					0	0	1	0	0	G	34137219	A	G	34137219	3	3	166	1	0	0	0	0	1	0	0	0	13822	391	14	3	13823	3	RYR3	15	34137219	Missense_Mutation	SNP	A	TCGA-HC-7210-01A-11D-2114-08		34137219	68394173	35	7753											
BBS4	585	broad.mit.edu	37	chr15	73029880	73029880	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctctggagccagagcctgcGgtggaatcaagtccaactga	10	7	12	12	1	2	2	1	1	1	1	3	4	3	4	4	3	4	0	4	3	3	0			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr15:73029880G>A	ENST00000268057.4	+	16	1553	c.1512G>A	c.(1510-1512)gcG>gcA	p.A504A	BBS4_ENST00000395205.2_Silent_p.A512A|BBS4_ENST00000539603.1_Silent_p.A492A|BBS4_ENST00000542334.1_Silent_p.A332A	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	504	Required for localization to centrosomes.				adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						CAGAGCCTGCGGTGGAATCAA	0.443									Bardet-Biedl syndrome				5	15					0	0	1	0	0	A	73029880	G	A	73029880	2	1	166	1	0	0	0	0	0	0	0	1	1337	1103	39	1		1	BBS4	15	73029880	Silent	SNP	G	TCGA-HC-7210-01A-11D-2114-08	38892661	73029880	29501512	36	7754											
ITFG3	83986	broad.mit.edu	37	chr16	314964	314964	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggtgagggtgggccagaCagtgaccaagccatcaggga	10	5	17	9	0	1	3	1	2	0	1	1	4	1	4	3	4	1	0	3	4	1	0			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr16:314964C>T	ENST00000399932.3	+	13	2053	c.1602C>T	c.(1600-1602)gaC>gaT	p.D534D	ITFG3_ENST00000442458.2_Intron|ITFG3_ENST00000600536.1_Intron|ITFG3_ENST00000301679.2_Intron|ITFG3_ENST00000450082.2_Intron|ITFG3_ENST00000301678.3_Silent_p.D534D			Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	534						integral to membrane				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				GTGGGCCAGACAGTGACCAAG	0.652													14	61					0	0	1	0	0	T	314964	C	T	314964	2	4	166	1	0	0	0	0	0	0	0	1	7915	477	17	2		2	ITFG3	16	314964	Silent	SNP	C	TCGA-HC-7210-01A-11D-2114-08		314964	90039789	37	7755											
C16orf82	0	broad.mit.edu	37	chr16	27078584	27078584	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccatgccagcctgagcagcGggtacgcaggggacaaggag	10	3	17	11	2	0	1	0	1	0	0	0	3	0	3	3	4	5	3	3	4	2	1			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr16:27078584G>A	ENST00000505035.1	+	0	557				RP11-673P17.2_ENST00000565783.1_RNA			Q7Z2V1	TNT_HUMAN																			CCTGAGCAGCGGGTACGCAGG	0.642													14	15					0	0	1	0	0	A	27078584	G	A	27078584	1	1	166	0	1	0	0	0	0	0	0	0	1845	1116	39	1		1	C16orf82	16	27078584	RNA	SNP	G	TCGA-HC-7210-01A-11D-2114-08	26763620	27078584	63276169	38	7756											
ABCA9	10350	broad.mit.edu	37	chr17	67016632	67016632	+	Frame_Shift_Del	DEL	T	T	-																															cacgccactgattgttttccTtgtttcgtggaaggaagaca																										TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr17:67016632delT	ENST00000340001.4	-	19	2708	c.2497delA	c.(2497-2499)ggfs	p.R833fs	ABCA9_ENST00000453985.2_Frame_Shift_Del_p.R833fs|ABCA9_ENST00000370732.2_Frame_Shift_Del_p.R833fs	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	833					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					ATTGTTTTCCTTGTTTCGTGG	0.428													35	117	---	---	---	---						-	67016632	T	-	67016632	7	5	166	1	0	1	0	1	0	0	0	0	39	1608	56	0	2461	0	ABCA9	17	67016632	Frame_Shift_Del	DEL	T	TCGA-HC-7210-01A-11D-2114-08		67016632	14178578	39	7757											
LMAN1	3998	broad.mit.edu	37	chr18	57020490	57020490	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacaggatagggtttgttgcGgaagtccctctggcaacttg	8	11	14	8	1	1	0	0	0	1	0	2	3	2	2	1	4	2	3	1	4	3	4			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr18:57020490G>T	ENST00000251047.5	-	5	1300	c.583C>A	c.(583-585)Cgc>Agc	p.R195S		NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1	195	L-type lectin-like.				blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	GGTTTGTTGCGGAAGTCCCTC	0.403													23	99					1.10923e-09	1.17323e-09	1	1	0	T	57020490	G	T	57020490	3	4	166	1	0	0	0	0	1	0	0	0	8877	1116	39	4	985	4	LMAN1	18	57020490	Missense_Mutation	SNP	G	TCGA-HC-7210-01A-11D-2114-08		57020490	21056758	40	7758											
BRD1	23774	broad.mit.edu	37	chr22	50217248	50217248	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtagcactcctggtgcacggCcaggttgcacatgtcgcaga	8	8	13	12	2	0	1	0	0	0	1	2	1	1	1	2	3	3	6	2	3	1	2			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chr22:50217248C>T	ENST00000216267.8	-	1	1204	c.718G>A	c.(718-720)Gcc>Acc	p.A240T	BRD1_ENST00000404760.1_Missense_Mutation_p.A240T|BRD1_ENST00000457780.2_Missense_Mutation_p.A240T|BRD1_ENST00000404034.1_Missense_Mutation_p.A240T	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	240					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TGGTGCACGGCCAGGTTGCAC	0.657													9	22					0	0	1	0	0	T	50217248	C	T	50217248	3	4	166	1	0	0	0	0	1	0	0	0	1503	739	26	2	2506	2	BRD1	22	50217248	Missense_Mutation	SNP	C	TCGA-HC-7210-01A-11D-2114-08		50217248	1087318	41	7759											
GPR119	139760	broad.mit.edu	37	chrX	129518743	129518743	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcccaatgagaacagacaCagtacggagagctttgaagt	14	7	11	9	1	0	4	0	2	0	3	1	6	1	4	1	1	3	3	1	1	4	2			TCGA-HC-7210-01A-11D-2114-08	TCGA-HC-7210-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed251d-bf15-4ec0-af02-0dc5e856907e	d1e9fad6-a37e-4dd5-8011-6cff3fa8fd57	g.chrX:129518743C>G	ENST00000276218.2	-	1	768	c.679G>C	c.(679-681)Gtg>Ctg	p.V227L		NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	227						integral to membrane|plasma membrane	lipid binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						AGAACAGACACAGTACGGAGA	0.547													27	20					0	0	1	0	0	G	129518743	C	G	129518743	3	3	166	1	0	0	0	0	1	0	0	0	6674	478	17	4	332	4	GPR119	23	129518743	Missense_Mutation	SNP	C	TCGA-HC-7210-01A-11D-2114-08		129518743	25751817	42	7760											
CHD5	26038	broad.mit.edu	37	chr1	6166702	6166702	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatggtggggtccccggcgcGgttggtcaggcggctcagga	4	7	20	10	4	2	0	2	0	0	0	3	2	3	1	2	9	0	2	2	9	0	1			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr1:6166702G>A	ENST00000262450.3	-	39	5815	c.5716C>T	c.(5716-5718)Cgc>Tgc	p.R1906C	CHD5_ENST00000378021.1_Missense_Mutation_p.R763C	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1906					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TCCCCGGCGCGGTTGGTCAGG	0.751													5	12					0	0	1	0	0	A	6166702	G	A	6166702	3	1	167	1	0	0	0	0	1	0	0	0	3350	1116	39	1	160	1	CHD5	1	6166702	Missense_Mutation	SNP	G	TCGA-HC-7211-01A-11D-2114-08		6166702	243083919	1	7761											
PADI6	353238	broad.mit.edu	37	chr1	17720687	17720687	+	RNA	DEL	G	G	-																															agggcccaggtggcctctgaGgggggaggggacgtggaagt																								rs67226027		TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr1:17720687delG	ENST00000434762.2	+	0	1233							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TGGCCTCTGAGGGGGGAGGGG	0.587													9	14	---	---	---	---						-	17720687	G	-	17720687	6	5	167	0	1	1	0	1	0	0	0	0	11428	1015	35	0		0	PADI6	1	17720687	RNA	DEL	G	TCGA-HC-7211-01A-11D-2114-08	11553985	17720687	231529934	2	7762											
GLIS1	148979	broad.mit.edu	37	chr1	53975547	53975547	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctgggcagaggcgggggTggagggctctggaagggtgg	5	5	26	5	1	1	1	0	0	1	1	1	3	1	3	0	10	0	3	0	10	1	0			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr1:53975547T>G	ENST00000312233.2	-	8	2078	c.1512A>C	c.(1510-1512)ccA>ccC	p.P504P		NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	504	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						GAGGCGGGGGTGGAGGGCTCT	0.672													4	17					0	0	1	0	0	G	53975547	T	G	53975547	2	3	167	1	0	0	0	0	0	0	0	1	6487	1683	59	5		5	GLIS1	1	53975547	Silent	SNP	T	TCGA-HC-7211-01A-11D-2114-08	36254860	53975547	195275074	3	7763											
ELTD1	64123	broad.mit.edu	37	chr1	79470893	79470893	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataggaacaattcaacaaagTggaaaaaaccactaaataaa	24	6	5	6	0	1	0	1	0	0	0	1	2	1	2	1	2	3	0	1	2	12	4			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr1:79470893T>A	ENST00000370742.3	-	2	97	c.34A>T	c.(34-36)Act>Tct	p.T12S		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	12					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TTCAACAAAGTGGAAAAAACC	0.313													12	31					0	0	1	0	0	A	79470893	T	A	79470893	3	1	167	1	0	0	0	0	1	0	0	0	5112	1696	59	5	2094	5	ELTD1	1	79470893	Missense_Mutation	SNP	T	TCGA-HC-7211-01A-11D-2114-08	25495346	79470893	169779728	4	7764											
ATP2B4	493	broad.mit.edu	37	chr1	203691620	203691620	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cactaggtgagaaattctttGatattgatagtgggaggaag	13	12	13	3	0	1	3	0	3	1	1	1	6	1	5	0	3	0	0	0	3	5	6			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr1:203691620G>A	ENST00000357681.5	+	18	3950	c.2827G>A	c.(2827-2829)Gat>Aat	p.D943N	ATP2B4_ENST00000367218.3_Missense_Mutation_p.D943N|ATP2B4_ENST00000367219.3_Missense_Mutation_p.D931N|ATP2B4_ENST00000391954.2_Missense_Mutation_p.D943N|ATP2B4_ENST00000341360.2_Missense_Mutation_p.D943N	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	943					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GAAATTCTTTGATATTGATAG	0.433													29	73					0	0	1	0	0	A	203691620	G	A	203691620	3	1	167	1	0	0	0	0	1	0	0	0	1141	1290	45	2	2893	2	ATP2B4	1	203691620	Missense_Mutation	SNP	G	TCGA-HC-7211-01A-11D-2114-08	124220727	203691620	45559001	5	7765											
OBSCN	84033	broad.mit.edu	37	chr1	228466409	228466409	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctgccagtgaccctcgtGcgcccgctgcgggacaagat	7	6	14	14	4	0	2	0	1	0	1	1	4	0	3	3	1	4	2	3	1	1	0			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr1:228466409G>A	ENST00000570156.2	+	31	8240	c.8166G>A	c.(8164-8166)gtG>gtA	p.V2722V	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.V2293V|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000359599.6_Silent_p.V1140V|OBSCN_ENST00000422127.1_Silent_p.V2293V	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1720	Ig-like 26.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGACCCTCGTGCGCCCGCTGC	0.667													11	84					0	0	1	0	0	A	228466409	G	A	228466409	2	1	167	1	0	0	0	0	0	0	0	1	10860	1306	46	2		2	OBSCN	1	228466409	Silent	SNP	G	TCGA-HC-7211-01A-11D-2114-08	24774789	228466409	20784212	6	7766											
ZNF695	57116	broad.mit.edu	37	chr1	247151356	247151356	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atttattgcattgaaagtttTtgctatgagtagttgctgag	10	18	10	3	0	0	3	0	3	0	0	0	3	0	3	0	0	3	6	0	0	4	9			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr1:247151356T>C	ENST00000339986.7	-	4	608	c.461A>G	c.(460-462)aAa>aGa	p.K154R	ZNF695_ENST00000498046.2_Intron|ZNF695_ENST00000487338.2_Intron	NM_020394.4	NP_065127.4	Q8IW36	ZN695_HUMAN	zinc finger protein 695	154					regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TTGAAAGTTTTTGCTATGAGT	0.348													24	245					0	0	1	0	0	C	247151356	T	C	247151356	3	2	167	1	0	0	0	0	1	0	0	0	18154	1841	64	3	1090	3	ZNF695	1	247151356	Missense_Mutation	SNP	T	TCGA-HC-7211-01A-11D-2114-08	18684947	247151356	2099265	7	7767											
BCL11A	53335	broad.mit.edu	37	chr2	60689483	60689483	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatccatgagtgttctgtgcGtgttgcaagagaaaccatgc	11	11	11	8	1	1	2	0	1	1	1	2	3	2	2	2	0	4	3	2	0	3	2			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr2:60689483G>A	ENST00000335712.6	-	4	791	c.564C>T	c.(562-564)caC>caT	p.H188H	BCL11A_ENST00000359629.5_Silent_p.H188H|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000358510.4_Silent_p.H154H|BCL11A_ENST00000538214.1_Silent_p.H154H|BCL11A_ENST00000537768.1_Silent_p.H36H|BCL11A_ENST00000356842.4_Silent_p.H188H	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	188	Required for nuclear body formation and for SUMO1 recruitment (By similarity).				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	p.H188H(3)		NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TGTTCTGTGCGTGTTGCAAGA	0.473			T	IGH@	B-CLL								26	62					0	0	1	0	0	A	60689483	G	A	60689483	2	1	167	1	0	0	0	0	0	0	0	1	1361	1136	40	1		1	BCL11A	2	60689483	Silent	SNP	G	TCGA-HC-7211-01A-11D-2114-08		60689483	182509890	8	7768											
C1QL2	165257	broad.mit.edu	37	chr2	119915213	119915213	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtgccgtcgccgccgcgCatgaggatgtggtaggtgaa	6	8	17	10	5	0	2	0	2	0	0	1	3	0	3	3	4	1	2	3	4	2	1			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr2:119915213C>T	ENST00000272520.3	-	1	1252	c.633G>A	c.(631-633)atG>atA	p.M211I		NM_182528.3	NP_872334.2	Q7Z5L3	C1QL2_HUMAN	complement component 1, q subcomponent-like 2	211	C1q.					collagen				NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1)	7						CGCCGCCGCGCATGAGGATGT	0.637										HNSCC(49;0.14)			25	45					0	0	1	0	0	T	119915213	C	T	119915213	3	4	167	1	0	0	0	0	1	0	0	0	1972	710	25	2	238	2	C1QL2	2	119915213	Missense_Mutation	SNP	C	TCGA-HC-7211-01A-11D-2114-08	59225730	119915213	123284160	9	7769											
TNFAIP6	7130	broad.mit.edu	37	chr2	152235947	152235947	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggtttccaaatcaaatatgTtgcaatggatcctgtatcca	13	13	7	8	0	1	0	1	0	0	0	4	1	4	1	3	2	1	4	3	2	5	4			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr2:152235947T>C	ENST00000243347.3	+	6	809	c.734T>C	c.(733-735)gTt>gCt	p.V245A		NM_007115.3	NP_009046.2	P98066	TSG6_HUMAN	tumor necrosis factor, alpha-induced protein 6	245	CUB.				cell adhesion|cell-cell signaling|inflammatory response|signal transduction		hyaluronic acid binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.131)		ATCAAATATGTTGCAATGGAT	0.378													15	159					0	0	1	0	0	C	152235947	T	C	152235947	3	2	167	1	0	0	0	0	1	0	0	0	16335	1725	60	3	756	3	TNFAIP6	2	152235947	Missense_Mutation	SNP	T	TCGA-HC-7211-01A-11D-2114-08	32320734	152235947	90963426	10	7770											
IKZF2	22807	broad.mit.edu	37	chr2	214012404	214012405	+	Frame_Shift_Del	DEL	AA	AA	-																															ctggagagacacacacacacAaaaaaaaatcataaaatgaa																								rs6738070	by1000genomes	TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr2:214012404_214012405delAA	ENST00000442445.1	-	3	241_242	c.184_185delTT	c.(184-186)gfs	p.L62fs	IKZF2_ENST00000451136.2_Intron|IKZF2_ENST00000374327.4_Intron|IKZF2_ENST00000434687.1_Intron|IKZF2_ENST00000374319.4_Intron|IKZF2_ENST00000421754.2_Intron|IKZF2_ENST00000342002.2_Intron|IKZF2_ENST00000457361.1_Intron|IKZF2_ENST00000413091.3_Intron			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		ACACACACACAAAAAAAAATCA	0.411													19	125	---	---	---	---						-	214012405	AA	-	214012404	7	5	167	1	0	1	0	1	0	0	0	0	7659	145	5	0		0	IKZF2	2	214012404	Frame_Shift_Del	DEL	AA	TCGA-HC-7211-01A-11D-2114-08	61776457	214012404	29186969	11	7771											
CAND2	23066	broad.mit.edu	37	chr3	12845003	12845003	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggttcatggccaccagcGacctgatgtcggagttgcag	8	8	14	11	2	1	1	1	1	0	0	2	3	1	2	3	3	2	4	3	3	0	2			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr3:12845003G>T	ENST00000456430.2	+	2	126	c.85G>T	c.(85-87)Gac>Tac	p.D29Y	CAND2_ENST00000295989.5_Missense_Mutation_p.D29Y	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	29					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GGCCACCAGCGACCTGATGTC	0.607													4	79					1.23904e-05	1.26287e-05	1	1	0	T	12845003	G	T	12845003	3	4	167	1	0	0	0	0	1	0	0	0	2634	1058	37	4	91	4	CAND2	3	12845003	Missense_Mutation	SNP	G	TCGA-HC-7211-01A-11D-2114-08		12845003	185177427	12	7772											
DCAF4L1	285429	broad.mit.edu	37	chr4	41983829	41983829	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatggaggctgaaaggctgcGactcctcgaggaagaggcca	12	5	15	9	2	0	2	0	1	0	1	2	6	1	4	2	5	1	2	2	5	3	0			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr4:41983829G>A	ENST00000333141.5	+	1	117	c.20G>A	c.(19-21)cGa>cAa	p.R7Q		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	7										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						GAAAGGCTGCGACTCCTCGAG	0.502													5	86					0	0	1	0	0	A	41983829	G	A	41983829	3	1	167	1	0	0	0	0	1	0	0	0	4295	1058	37	1	22	1	DCAF4L1	4	41983829	Missense_Mutation	SNP	G	TCGA-HC-7211-01A-11D-2114-08		41983829	149170447	13	7773											
RAPGEF6	51735	broad.mit.edu	37	chr5	130766933	130766933	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acacgaagtccaacttccacGaccactgtcagctgcttcta	11	9	6	15	2	2	0	1	0	1	0	4	2	4	0	3	0	3	2	3	0	3	3	rs147775864		TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr5:130766933G>A	ENST00000509018.1	-	26	4289	c.4084C>T	c.(4084-4086)Cgt>Tgt	p.R1362C	RAPGEF6_ENST00000507093.1_Missense_Mutation_p.R1370C|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.R1370C|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.R1375C|FNIP1_ENST00000514667.1_Missense_Mutation_p.R1412C	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1362	Ser-rich.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		CAACTTCCACGACCACTGTCA	0.433													39	73					0	0	1	0	0	A	130766933	G	A	130766933	3	1	167	1	0	0	0	0	1	0	0	0	13100	1058	37	1	733	1	RAPGEF6	5	130766933	Missense_Mutation	SNP	G	TCGA-HC-7211-01A-11D-2114-08		130766933	50148327	14	7774											
LRRC16A	55604	broad.mit.edu	37	chr6	25538149	25538149	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacgaaattgtgggggagacGctatccaggaagatttaaaa	15	9	12	5	2	0	2	0	0	0	2	1	5	1	3	1	3	1	1	1	3	6	5			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr6:25538149G>A	ENST00000329474.6	+	25	2502	c.2134G>A	c.(2134-2136)Gct>Act	p.A712T		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	712					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						TGGGGGAGACGCTATCCAGGA	0.433													3	16					0	0	1	0	0	A	25538149	G	A	25538149	3	1	167	1	0	0	0	0	1	0	0	0	9016	1087	38	1	2232	1	LRRC16A	6	25538149	Missense_Mutation	SNP	G	TCGA-HC-7211-01A-11D-2114-08		25538149	145576918	15	7775											
TBX18	9096	broad.mit.edu	37	chr6	85457764	85457764	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacagtctttacggatgacGtgcactcgcggttggtattt	7	13	11	10	4	1	1	0	1	1	0	2	2	1	2	1	3	2	3	1	3	2	5			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr6:85457764G>A	ENST00000369663.5	-	5	1150	c.813C>T	c.(811-813)caC>caT	p.H271H	TBX18_ENST00000606784.1_Silent_p.H113H|TBX18_ENST00000606521.1_5'UTR	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	271					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		TACGGATGACGTGCACTCGCG	0.448													6	59					0	0	1	0	0	A	85457764	G	A	85457764	2	1	167	1	0	0	0	0	0	0	0	1	15713	1136	40	1		1	TBX18	6	85457764	Silent	SNP	G	TCGA-HC-7211-01A-11D-2114-08	59919615	85457764	85657303	16	7776											
TAF5	6877	broad.mit.edu	37	chr10	105133312	105133312	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acatgtacttggagctagtcTacaatcaacatgagaatgaa	16	10	8	7	0	2	2	1	2	1	1	2	4	2	3	0	1	4	2	0	1	7	4			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr10:105133312T>A	ENST00000369839.3	+	2	780	c.757T>A	c.(757-759)Tac>Aac	p.Y253N	TAF5_ENST00000351396.4_Missense_Mutation_p.Y253N	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	253					histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		GGAGCTAGTCTACAATCAACA	0.388													29	54					0	0	1	0	0	A	105133312	T	A	105133312	3	1	167	1	0	0	0	0	1	0	0	0	15585	1522	53	5	763	5	TAF5	10	105133312	Missense_Mutation	SNP	T	TCGA-HC-7211-01A-11D-2114-08		105133312	30401435	17	7777											
TRPC4	7223	broad.mit.edu	37	chr13	38320195	38320195	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagttctctggaacttctcGtctgatccagtaggtcctta	7	14	8	12	1	3	1	0	1	3	0	7	2	5	2	3	2	1	2	3	2	3	4			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr13:38320195G>A	ENST00000379705.3	-	3	1633	c.776C>T	c.(775-777)aCg>aTg	p.T259M	TRPC4_ENST00000379681.3_Missense_Mutation_p.T259M|TRPC4_ENST00000379673.2_Missense_Mutation_p.T259M|TRPC4_ENST00000358477.2_Missense_Mutation_p.T259M|TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000426868.2_Missense_Mutation_p.T259M|TRPC4_ENST00000355779.2_Missense_Mutation_p.T259M|TRPC4_ENST00000447043.1_Missense_Mutation_p.T259M			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	259	Multimerization domain (By similarity).				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		GGAACTTCTCGTCTGATCCAG	0.413													58	131					0	0	1	0	0	A	38320195	G	A	38320195	3	1	167	1	0	0	0	0	1	0	0	0	16641	1145	40	1	2208	1	TRPC4	13	38320195	Missense_Mutation	SNP	G	TCGA-HC-7211-01A-11D-2114-08		38320195	76849683	18	7778											
AHNAK2	113146	broad.mit.edu	37	chr14	105420975	105420975	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gacctctggggtcccggcccCcgcttgctctttatggattg	3	12	12	14	2	2	0	0	0	2	0	3	2	3	1	4	4	1	2	4	4	1	4			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr14:105420975C>A	ENST00000333244.5	-	7	932	c.813G>T	c.(811-813)cgG>cgT	p.R271R		NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	271						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GTCCCGGCCCCCGCTTGCTCT	0.582													7	19					1.12685e-05	1.17104e-05	1	1	0	A	105420975	C	A	105420975	2	1	167	1	0	0	0	0	0	0	0	1	412	610	22	4		4	AHNAK2	14	105420975	Silent	SNP	C	TCGA-HC-7211-01A-11D-2114-08		105420975	1928565	19	7779											
FBN1	2200	broad.mit.edu	37	chr15	48905245	48905245	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cgccaggtaaggttttccatCcagggcaacagtaagcatta	12	9	10	10	1	0	0	0	0	0	0	2	0	2	0	3	3	2	5	3	3	4	5			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr15:48905245C>G	ENST00000316623.5	-	3	664	c.209G>C	c.(208-210)gGa>gCa	p.G70A		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	70					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GGTTTTCCATCCAGGGCAACA	0.383													15	134					0	0	1	0	0	G	48905245	C	G	48905245	3	3	167	1	0	0	0	0	1	0	0	0	5735	855	30	4	8662	4	FBN1	15	48905245	Missense_Mutation	SNP	C	TCGA-HC-7211-01A-11D-2114-08		48905245	53626147	20	7780											
ALDH3A1	218	broad.mit.edu	37	chr17	19648303	19648303	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcaggtctgcggccagcGcgcccaccagctcctgctcc	4	7	12	18	3	1	0	0	0	1	0	3	0	3	0	5	2	5	3	5	2	0	0			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr17:19648303G>C	ENST00000457500.2	-	1	469	c.140C>G	c.(139-141)gCg>gGg	p.A47G	ALDH3A1_ENST00000485231.1_Intron|ALDH3A1_ENST00000395555.3_Missense_Mutation_p.A47G|ALDH3A1_ENST00000444455.1_Missense_Mutation_p.A47G|ALDH3A1_ENST00000225740.6_Missense_Mutation_p.A47G|ALDH3A1_ENST00000494157.2_Intron	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	47					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	TGCGGCCAGCGCGCCCACCAG	0.716													3	16					0	0	1	0	0	C	19648303	G	C	19648303	3	2	167	1	0	0	0	0	1	0	0	0	494	1087	38	4	1261	4	ALDH3A1	17	19648303	Missense_Mutation	SNP	G	TCGA-HC-7211-01A-11D-2114-08		19648303	61546907	21	7781											
PEX12	5193	broad.mit.edu	37	chr17	33903106	33903107	+	Frame_Shift_Ins	INS	-	-	C																															taccaccagtcaaggaactgINScaagaagaatacacccacag																										TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr17:33903106_33903107insC	ENST00000225873.4	-	3	1381_1382	c.774_775insG	c.(772-777)ttagttfs	p.V259fs		NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12	259					protein import into peroxisome matrix	integral to peroxisomal membrane	protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TCAAGGAACTGCAAGAAGAATA	0.465													56	92	---	---	---	---						C	33903107	-	C	33903106	7	5	167	1	0	1	1	0	0	0	0	0	11788	1328	46	0	308	0	PEX12	17	33903106	Frame_Shift_Ins	INS	-	TCGA-HC-7211-01A-11D-2114-08	14254803	33903106	47292104	22	7782											
GAS2L2	246176	broad.mit.edu	37	chr17	34072984	34072984	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttcctggtgttggggggCgagcagggggcagccggatg	4	8	20	9	2	0	0	0	0	0	0	2	2	2	1	3	7	2	3	3	7	0	2	rs144024552		TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr17:34072984C>T	ENST00000254466.6	-	6	1559	c.1532G>A	c.(1531-1533)cGc>cAc	p.R511H	GAS2L2_ENST00000587565.1_Missense_Mutation_p.R495H	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	511					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGTTGGGGGGCGAGCAGGGGG	0.607													26	77					0	0	1	0	0	T	34072984	C	T	34072984	3	4	167	1	0	0	0	0	1	0	0	0	6287	768	27	1	1114	1	GAS2L2	17	34072984	Missense_Mutation	SNP	C	TCGA-HC-7211-01A-11D-2114-08	169878	34072984	47122226	23	7783											
FEM1A	55527	broad.mit.edu	37	chr19	4791992	4791992	+	Frame_Shift_Del	DEL	A	A	-																															ggcgaggtggccggcgggggAacgccgctactcatcgccgc																										TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr19:4791992delA	ENST00000269856.3	+	1	265	c.126delA	c.(124-126)ggfs	p.G42fs	AC005523.2_ENST00000601192.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	42					regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CCGGCGGGGGAACGCCGCTAC	0.721													2	4	---	---	---	---						-	4791992	A	-	4791992	7	5	167	1	0	1	0	1	0	0	0	0	5842	233	9	0	128	0	FEM1A	19	4791992	Frame_Shift_Del	DEL	A	TCGA-HC-7211-01A-11D-2114-08		4791992	54336991	24	7784											
RPL28	6158	broad.mit.edu	37	chr19	55898050	55898050	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggtgtcgtggtggtcattaAgcggagatccggtgagtttt	7	13	16	5	3	1	2	1	1	0	1	3	3	2	2	1	5	1	1	1	5	1	3			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr19:55898050A>T	ENST00000344063.2	+	3	823	c.194A>T	c.(193-195)aAg>aTg	p.K65M	RPL28_ENST00000560583.1_Missense_Mutation_p.K65M|RPL28_ENST00000558131.1_Intron|RPL28_ENST00000428193.2_Missense_Mutation_p.K65M|RPL28_ENST00000431533.2_Missense_Mutation_p.K65M|RPL28_ENST00000560055.1_Missense_Mutation_p.K65M|RPL28_ENST00000458349.2_Missense_Mutation_p.K65M|RPL28_ENST00000559463.1_Missense_Mutation_p.K65M|RPL28_ENST00000558815.1_Missense_Mutation_p.K65M|RPL28_ENST00000558752.1_Missense_Mutation_p.K65M			P46779	RL28_HUMAN	ribosomal protein L28	65					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6	Breast(117;0.191)	Renal(1328;0.245)	LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)		GTGGTCATTAAGCGGAGATCC	0.577													47	113					0	0	1	0	0	T	55898050	A	T	55898050	3	4	167	1	0	0	0	0	1	0	0	0	13629	72	3	5	200	5	RPL28	19	55898050	Missense_Mutation	SNP	A	TCGA-HC-7211-01A-11D-2114-08	51106058	55898050	3230933	25	7785											
ENTPD6	0	broad.mit.edu	37	chr20	25201904	25201904	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttggtcagcccttgcttgtCtcccagtttcaaaggagagt	7	13	11	10	0	3	1	2	0	1	1	4	2	3	1	2	2	2	3	2	2	1	4			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr20:25201904C>T	ENST00000360031.2	+	11	1159	c.977C>T	c.(976-978)tCt>tTt	p.S326F	ENTPD6_ENST00000433259.2_Intron|ENTPD6_ENST00000376652.4_Missense_Mutation_p.S327F|ENTPD6_ENST00000354989.5_Missense_Mutation_p.S310F	NM_001247.2	NP_001238.2	O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	327						Golgi membrane|integral to membrane	nucleoside-diphosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						CCTTGCTTGTCTCCCAGTTTC	0.512													20	43					0	0	1	0	0	T	25201904	C	T	25201904	3	4	167	1	0	0	0	0	1	0	0	0	5171	913	32	2	1025	2	ENTPD6	20	25201904	Missense_Mutation	SNP	C	TCGA-HC-7211-01A-11D-2114-08		25201904	37823616	26	7786											
MED15	51586	broad.mit.edu	37	chr22	20922879	20922879	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagcagcagacagcagtacaGacagctcaggctgcccagat	13	4	11	13	0	1	3	1	0	0	3	1	3	1	3	1	1	6	6	1	1	1	1			TCGA-HC-7211-01A-11D-2114-08	TCGA-HC-7211-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff8ce081-3108-487c-afd1-a46bcae93fd2	47da9ef1-cc95-44f3-8566-406eb118835a	g.chr22:20922879G>C	ENST00000263205.7	+	8	1182	c.1113G>C	c.(1111-1113)caG>caC	p.Q371H	MED15_ENST00000406969.1_Missense_Mutation_p.Q345H|MED15_ENST00000542773.1_Missense_Mutation_p.176_176insH|MED15_ENST00000292733.7_Missense_Mutation_p.Q371H|MED15_ENST00000425759.2_Missense_Mutation_p.Q260H|MED15_ENST00000541476.1_Missense_Mutation_p.Q345H|MED15_ENST00000478831.1_3'UTR|MED15_ENST00000382974.2_Missense_Mutation_p.Q300H	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	371	Pro-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			CAGCAGTACAGACAGCTCAGG	0.617													12	42					0	0	1	0	0	C	20922879	G	C	20922879	3	2	167	1	0	0	0	0	1	0	0	0	9483	933	33	4	1143	4	MED15	22	20922879	Missense_Mutation	SNP	G	TCGA-HC-7211-01A-11D-2114-08		20922879	30381687	27	7787											
SLC2A7	155184	broad.mit.edu	37	chr1	9085108	9085108	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaggccgcgctcagtgtcGccagcaacagcgtcggctgg	8	5	14	14	5	1	0	1	0	0	0	3	0	1	0	2	3	3	3	2	3	2	0			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr1:9085108G>A	ENST00000400906.1	-	2	76	c.77C>T	c.(76-78)gCg>gTg	p.A26V		NM_207420.2	NP_997303.2	Q6PXP3	GTR7_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 7	26						integral to membrane|plasma membrane	sugar transmembrane transporter activity			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		GCTCAGTGTCGCCAGCAACAG	0.647													3	36					0	0	1	0	0	A	9085108	G	A	9085108	3	1	168	1	0	0	0	0	1	0	0	0	14605	1087	38	1	1505	1	SLC2A7	1	9085108	Missense_Mutation	SNP	G	TCGA-HC-7212-01A-11D-2114-08		9085108	240165513	1	7788											
VPS13D	55187	broad.mit.edu	37	chr1	12331156	12331156	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaatccggcaaactcttgAtcgtttgctagtgggtgatt	10	13	11	7	2	1	3	0	2	1	1	3	3	2	3	1	2	2	3	1	2	3	4			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr1:12331156A>G	ENST00000358136.3	+	17	2208	c.2078A>G	c.(2077-2079)gAt>gGt	p.D693G	VPS13D_ENST00000356315.4_Missense_Mutation_p.D693G	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	693					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CAAACTCTTGATCGTTTGCTA	0.468													27	53					0	0	1	0	0	G	12331156	A	G	12331156	3	3	168	1	0	0	0	0	1	0	0	0	17252	333	12	3	2140	3	VPS13D	1	12331156	Missense_Mutation	SNP	A	TCGA-HC-7212-01A-11D-2114-08	3246048	12331156	236919465	2	7789											
F3	2152	broad.mit.edu	37	chr1	94996023	94996023	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacagtgcttcctttatgaaAcattcagtggggagttctcc	10	13	9	9	0	2	1	1	1	1	0	4	2	3	2	2	2	3	2	2	2	3	5			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr1:94996023A>G	ENST00000334047.7	-	6	1044	c.881T>C	c.(880-882)gTt>gCt	p.V294A	F3_ENST00000370207.4_3'UTR	NM_001993.4	NP_001984.1	P13726	TF_HUMAN	coagulation factor III (thromboplastin, tissue factor)	294					activation of caspase activity|activation of plasma proteins involved in acute inflammatory response|anti-apoptosis|blood coagulation, extrinsic pathway|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of protein kinase B signaling cascade	extracellular matrix|extracellular space|integral to membrane	cell surface binding|phospholipid binding|protease binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)	14		all_lung(203;0.00106)|Lung NSC(277;0.00475)		all cancers(265;0.0232)|Epithelial(280;0.121)	Coagulation factor VIIa(DB00036)	CCTTTATGAAACATTCAGTGG	0.433													3	85					0	0	1	0	0	G	94996023	A	G	94996023	3	3	168	1	0	0	0	0	1	0	0	0	5375	43	2	3	10	3	F3	1	94996023	Missense_Mutation	SNP	A	TCGA-HC-7212-01A-11D-2114-08	82664867	94996023	154254598	3	7790											
ATP6V1C2	245973	broad.mit.edu	37	chr2	10917833	10917833	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgacagagagagagagagTgagggcgagggtgaggtaag	14	3	20	4	2	0	5	0	2	0	3	0	10	0	5	1	3	0	1	1	3	1	1			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr2:10917833T>A	ENST00000272238.4	+	11	1057	c.948T>A	c.(946-948)agT>agA	p.S316R	ATP6V1C2_ENST00000381661.3_Intron	NM_001039362.1	NP_001034451.1	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	316					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain		p.S316fs*14(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		AGAGAGAGAGTGAGGGCGAGG	0.602													4	78					0	0	1	0	0	A	10917833	T	A	10917833	3	1	168	1	0	0	0	0	1	0	0	0	1179	1693	59	5	986	5	ATP6V1C2	2	10917833	Missense_Mutation	SNP	T	TCGA-HC-7212-01A-11D-2114-08		10917833	232281540	4	7791											
STON1	11037	broad.mit.edu	37	chr2	48809003	48809003	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caaaaccaaaaaagaactacGaggagcaagaaatttccttg	20	6	7	8	1	0	2	0	0	0	2	1	4	1	3	2	1	4	1	2	1	9	3			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr2:48809003G>A	ENST00000309835.3	+	1	1241	c.1231G>A	c.(1231-1233)Gag>Aag	p.E411K	STON1_ENST00000406226.1_Missense_Mutation_p.E411K|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.E411K|STON1_ENST00000404752.1_Missense_Mutation_p.E411K|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.E411K|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.E411K|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.E411K|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.E411K					stonin 1											NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AAAGAACTACGAGGAGCAAGA	0.403													6	49					0	0	1	0	0	A	48809003	G	A	48809003	3	1	168	1	0	0	0	0	1	0	0	0	15372	1059	37	1	1233	1	STON1	2	48809003	Missense_Mutation	SNP	G	TCGA-HC-7212-01A-11D-2114-08	37891170	48809003	194390370	5	7792											
LRRTM1	347730	broad.mit.edu	37	chr2	80529775	80529775	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtccgcgagcgtggtggcCgagctggcagggggccccag	4	4	19	14	5	0	0	0	0	0	0	1	2	1	0	5	5	2	2	5	5	0	0			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr2:80529775C>T	ENST00000295057.3	-	2	1826	c.1170G>A	c.(1168-1170)tcG>tcA	p.S390S	CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000361291.4_Intron|LRRTM1_ENST00000409148.1_Silent_p.S390S|CTNNA2_ENST00000402739.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	390						axon|endoplasmic reticulum membrane|growth cone|integral to membrane		p.S390S(2)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GCGTGGTGGCCGAGCTGGCAG	0.721										HNSCC(69;0.2)			3	27					0	0	1	0	0	T	80529775	C	T	80529775	2	4	168	1	0	0	0	0	0	0	0	1	9084	639	23	1		1	LRRTM1	2	80529775	Silent	SNP	C	TCGA-HC-7212-01A-11D-2114-08	31720772	80529775	162669598	6	7793											
CTNNB1	1499	broad.mit.edu	37	chr3	41266112	41266112	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctggactctggaatccatTctggtgccactaccacagct	9	10	8	14	0	2	0	0	0	2	0	3	2	3	2	4	3	3	1	4	3	2	2	rs121913416		TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr3:41266112T>G	ENST00000349496.5	+	3	389	c.109T>G	c.(109-111)Tct>Gct	p.S37A	CTNNB1_ENST00000396185.3_Missense_Mutation_p.S37A|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S37A|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S30A|CTNNB1_ENST00000396183.3_Missense_Mutation_p.S37A	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	37			S -> A (in MDB and hepatocellular carcinoma; enhances transactivation of target genes).|S -> C (in PTR, hepatoblastoma and ovarian cancer).|S -> F (in PTR).|S -> Y (in hepatocellular carcinoma).|SG -> W (in hepatocellular carcinoma).		adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.S37A(62)|p.A5_A80del(53)|p.S37P(21)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.I35_S37>T(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.S37T(1)|p.I35_K170del(1)|p.H24_G38del(1)|p.I35_T41del(1)|p.I35_G38del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.D32fs*9(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.S33_S37del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.GIHS34?(1)|p.S37_G38>W(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	TGGAATCCATTCTGGTGCCAC	0.498	S37P(HEC108_ENDOMETRIUM)|S37P(SNGM_ENDOMETRIUM)	15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of				5	46					0	0	1	0	0	G	41266112	T	G	41266112	3	3	168	1	0	0	0	0	1	0	0	0	4040	1783	62	5	115	5	CTNNB1	3	41266112	Missense_Mutation	SNP	T	TCGA-HC-7212-01A-11D-2114-08		41266112	156756318	7	7794											
HYAL3	8372	broad.mit.edu	37	chr3	50332378	50332378	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caagggtggctgcatggcagCggccggtatagttggaagcc	8	7	17	9	2	0	0	0	0	0	0	0	1	0	1	2	6	3	5	2	6	4	3	rs142315421	byFrequency	TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr3:50332378C>T	ENST00000336307.1	-	2	928	c.656G>A	c.(655-657)cGc>cAc	p.R219H	HYAL3_ENST00000359051.3_Missense_Mutation_p.R219H|HYAL3_ENST00000415204.1_Intron|HYAL3_ENST00000513170.1_Intron|HYAL3_ENST00000450982.1_Missense_Mutation_p.R219H	NM_001200029.1|NM_003549.3	NP_001186958.1|NP_003540.2	O43820	HYAL3_HUMAN	hyaluronoglucosaminidase 3	219					carbohydrate metabolic process	extracellular region|lysosome	hyalurononglucosaminidase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TGCATGGCAGCGGCCGGTATA	0.632													19	63					0	0	1	0	0	T	50332378	C	T	50332378	3	4	168	1	0	0	0	0	1	0	0	0	7509	768	27	1	609	1	HYAL3	3	50332378	Missense_Mutation	SNP	C	TCGA-HC-7212-01A-11D-2114-08	9066266	50332378	147690052	8	7795											
TIFAB	497189	broad.mit.edu	37	chr5	134785319	134785319	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgcctgagaaggagaccCtgttgacggtgctcaggggg	8	7	18	8	1	1	3	1	2	0	2	1	6	1	4	2	5	2	2	2	5	1	1			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr5:134785319C>T	ENST00000537858.1	-	2	511	c.311G>A	c.(310-312)aGg>aAg	p.R104K		NM_001099221.1	NP_001092691.1	Q6ZNK6	TIFAB_HUMAN	TRAF-interacting protein with forkhead-associated domain, family member B	104										breast(1)|endometrium(1)|liver(1)|lung(5)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GAAGGAGACCCTGTTGACGGT	0.587													12	114					0	0	1	0	0	T	134785319	C	T	134785319	3	4	168	1	0	0	0	0	1	0	0	0	15955	681	24	2	178	2	TIFAB	5	134785319	Missense_Mutation	SNP	C	TCGA-HC-7212-01A-11D-2114-08		134785319	46129941	9	7796											
NEDD9	4739	broad.mit.edu	37	chr6	11191315	11191315	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggtgcaggttggaggaaTgtcataaaccccctccggtc	8	10	12	11	1	1	0	1	0	0	0	3	2	2	2	3	5	2	2	3	5	3	3			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr6:11191315T>C	ENST00000379446.5	-	5	953	c.787A>G	c.(787-789)Att>Gtt	p.I263V	NEDD9_ENST00000504387.1_Missense_Mutation_p.I263V|RP3-510L9.1_ENST00000500636.2_RNA	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	263					actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			GTTGGAGGAATGTCATAAACC	0.552													3	76					0	0	1	0	0	C	11191315	T	C	11191315	3	2	168	1	0	0	0	0	1	0	0	0	10360	1464	51	3	1729	3	NEDD9	6	11191315	Missense_Mutation	SNP	T	TCGA-HC-7212-01A-11D-2114-08		11191315	159923752	10	7797											
ANKMY2	57037	broad.mit.edu	37	chr7	16640446	16640446	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagccttccaactcagcttcGctttcaagagattctttctt	9	15	5	12	1	4	1	2	0	2	1	6	2	5	1	2	0	3	2	2	0	3	6			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr7:16640446G>A	ENST00000306999.2	-	10	1509	c.1266C>T	c.(1264-1266)agC>agT	p.S422S		NM_020319.2	NP_064715.1	Q8IV38	ANKY2_HUMAN	ankyrin repeat and MYND domain containing 2	422						cilium	zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		ACTCAGCTTCGCTTTCAAGAG	0.493													4	50					0	0	1	0	0	A	16640446	G	A	16640446	2	1	168	1	0	0	0	0	0	0	0	1	631	1078	38	1		1	ANKMY2	7	16640446	Silent	SNP	G	TCGA-HC-7212-01A-11D-2114-08		16640446	142498217	11	7798											
LMTK2	22853	broad.mit.edu	37	chr7	97822326	97822326	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtttagatgttattgtccCggaggactgtctccaccagg	7	13	12	9	1	1	1	0	0	1	1	3	3	2	3	3	3	0	2	3	3	2	4			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr7:97822326C>T	ENST00000297293.5	+	11	2842	c.2549C>T	c.(2548-2550)cCg>cTg	p.P850L		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	850					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P850L(4)		NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					GTTATTGTCCCGGAGGACTGT	0.552													8	82					0	0	1	0	0	T	97822326	C	T	97822326	3	4	168	1	0	0	0	0	1	0	0	0	8900	652	23	1	2591	1	LMTK2	7	97822326	Missense_Mutation	SNP	C	TCGA-HC-7212-01A-11D-2114-08	81181880	97822326	61316337	12	7799											
MEPCE	56257	broad.mit.edu	37	chr7	100031160	100031160	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtacctgttccacaaggccCgatcccccagccactaagtg	9	8	8	16	1	0	0	0	0	0	0	2	1	2	0	6	1	2	2	6	1	3	3			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr7:100031160C>T	ENST00000310512.2	+	4	2441	c.2053C>T	c.(2053-2055)Cga>Tga	p.R685*	MEPCE_ENST00000414441.1_Nonsense_Mutation_p.R216*	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	685	Bin3-type SAM.						methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCACAAGGCCCGATCCCCCAG	0.582													4	52					0	0	1	0	0	T	100031160	C	T	100031160	4	4	168	1	0	0	0	0	0	1	0	0	9527	644	23	1	2067	1	MEPCE	7	100031160	Nonsense_Mutation	SNP	C	TCGA-HC-7212-01A-11D-2114-08	2208834	100031160	59107503	13	7800											
C7orf66	154907	broad.mit.edu	37	chr7	108524126	108524126	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtttcttgtggacaatccGtagatatgcacctttcactt	8	16	8	9	1	2	1	1	0	1	1	3	2	3	2	2	2	1	3	2	2	3	6	rs143724624		TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr7:108524126G>A	ENST00000379007.2	-	2	340	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W		NM_001024607.1	NP_001019778.1	A4D0T2	CG066_HUMAN	chromosome 7 open reading frame 66	96						integral to membrane				breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	15						TGGACAATCCGTAGATATGCA	0.348													14	67					0	0	1	0	0	A	108524126	G	A	108524126	3	1	168	1	0	0	0	0	1	0	0	0	2428	1144	40	1	65	1	C7orf66	7	108524126	Missense_Mutation	SNP	G	TCGA-HC-7212-01A-11D-2114-08	8492966	108524126	50614537	14	7801											
LMOD2	442721	broad.mit.edu	37	chr7	123301995	123301997	+	In_Frame_Del	DEL	GAG	GAG	-																															tttctgaggaagtgtatacaGaggaggaggaggaggagtcc																										TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr7:123301995_123301997delGAG	ENST00000458573.2	+	2	512_514	c.355_357delGAG	c.(355-357)del	p.E124del	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	124	Glu-rich.					cytoskeleton	actin binding|tropomyosin binding										AGTGTATACAgaggaggaggagg	0.409													2	4	---	---	---	---						-	123301997	GAG	-	123301995	7	5	168	1	0	1	0	1	0	0	0	0	8898	943	33	0	361	0	LMOD2	7	123301995	In_Frame_Del	DEL	GAG	TCGA-HC-7212-01A-11D-2114-08	14777869	123301995	35836668	15	7802											
DLGAP2	9228	broad.mit.edu	37	chr8	1645355	1645355	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgacgtcgcaggacctggccGgctactgggacatgctgcag	7	6	15	13	4	0	0	0	0	0	0	1	3	0	2	2	4	3	4	2	4	1	1			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr8:1645355G>A	ENST00000421627.2	+	11	2733	c.2599G>A	c.(2599-2601)Ggc>Agc	p.G867S		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	946					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GGACCTGGCCGGCTACTGGGA	0.647													3	31					0	0	1	0	0	A	1645355	G	A	1645355	3	1	168	1	0	0	0	0	1	0	0	0	4588	1116	39	1	2637	1	DLGAP2	8	1645355	Missense_Mutation	SNP	G	TCGA-HC-7212-01A-11D-2114-08		1645355	144718667	16	7803											
ANK1	286	broad.mit.edu	37	chr8	41529904	41529904	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctccgtcacctgactcacGgtgggggaatgtgtgattcg	6	11	13	11	3	3	2	2	2	1	0	5	3	3	3	2	3	0	0	2	3	1	1			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr8:41529904G>A	ENST00000396942.1	-	38	5147	c.5064C>T	c.(5062-5064)acC>acT	p.T1688T	ANK1_ENST00000289734.7_Silent_p.T1688T|ANK1_ENST00000396945.1_Silent_p.T1688T|ANK1_ENST00000347528.4_Silent_p.T1688T|ANK1_ENST00000265709.8_Silent_p.T1729T|ANK1_ENST00000379758.2_Silent_p.T1688T|ANK1_ENST00000352337.4_Silent_p.T1688T			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1688	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CCTGACTCACGGTGGGGGAAT	0.567													3	52					0	0	1	0	0	A	41529904	G	A	41529904	2	1	168	1	0	0	0	0	0	0	0	1	616	1103	39	1		1	ANK1	8	41529904	Silent	SNP	G	TCGA-HC-7212-01A-11D-2114-08	39884549	41529904	104834118	17	7804											
IPPK	64768	broad.mit.edu	37	chr9	95418828	95418828	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgttgaaatatctcttcCgaggtctgtaagagacaacc	12	11	10	8	1	2	2	0	1	2	1	4	4	3	2	2	2	1	2	2	2	4	4			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr9:95418828C>T	ENST00000287996.3	-	3	411	c.135G>A	c.(133-135)tcG>tcA	p.S45S		NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	45					inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						ATATCTCTTCCGAGGTCTGTA	0.493													5	62					0	0	1	0	0	T	95418828	C	T	95418828	2	4	168	1	0	0	0	0	0	0	0	1	7845	639	23	1		1	IPPK	9	95418828	Silent	SNP	C	TCGA-HC-7212-01A-11D-2114-08		95418828	45794603	18	7805											
ZNF79	7633	broad.mit.edu	37	chr9	130191138	130191138	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttccccaggccctgcccttcCccaagaggaaaacacaggag	11	5	9	16	0	0	1	0	0	0	1	2	3	2	3	6	3	2	0	6	3	3	2			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr9:130191138C>T	ENST00000342483.5	+	2	450	c.44C>T	c.(43-45)cCc>cTc	p.P15L	ZNF79_ENST00000543471.1_5'UTR	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	15					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						CCTGCCCTTCCCCAAGAGGAA	0.478													5	17					0	0	1	0	0	T	130191138	C	T	130191138	3	4	168	1	0	0	0	0	1	0	0	0	18210	623	22	2	50	2	ZNF79	9	130191138	Missense_Mutation	SNP	C	TCGA-HC-7212-01A-11D-2114-08	34772310	130191138	11022293	19	7806											
WDR37	22884	broad.mit.edu	37	chr10	1142152	1142152	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatctggagatacgcggtgcAgctgccgacaccccagcctg	8	7	12	14	3	1	1	0	0	1	1	1	3	1	1	4	2	5	2	4	2	2	2			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr10:1142152A>G	ENST00000358220.1	+	9	836	c.692A>G	c.(691-693)cAg>cGg	p.Q231R	WDR37_ENST00000263150.4_Missense_Mutation_p.Q231R|WDR37_ENST00000381329.1_Missense_Mutation_p.Q231R			Q9Y2I8	WDR37_HUMAN	WD repeat domain 37	231										breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		TACGCGGTGCAGCTGCCGACA	0.488													8	66					0	0	1	0	0	G	1142152	A	G	1142152	3	3	168	1	0	0	0	0	1	0	0	0	17351	188	7	3	722	3	WDR37	10	1142152	Missense_Mutation	SNP	A	TCGA-HC-7212-01A-11D-2114-08		1142152	134392595	20	7807											
CAMK1D	57118	broad.mit.edu	37	chr10	12595224	12595224	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttccttctttgttcacagCggggccttttccgaagtggt	4	17	10	10	2	2	0	1	0	1	0	4	1	4	0	3	3	1	1	3	3	1	7			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr10:12595224C>T	ENST00000378847.3	+	2	430	c.92_splice	c.e2-1	p.T31_splice	CAMK1D_ENST00000487696.1_Intron|CAMK1D_ENST00000378845.1_Splice_Site_p.T31_splice	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	31	Protein kinase.					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		TTGTTCACAGCGGGGCCTTTT	0.463													4	65					0	0	1	0	0	T	12595224	C	T	12595224	5	4	168	1	0	0	0	0	0	0	1	0	2615	782	27	1	99	1	CAMK1D	10	12595224	Splice_Site	SNP	C	TCGA-HC-7212-01A-11D-2114-08	11453072	12595224	122939523	21	7808											
PTEN	5728	broad.mit.edu	37	chr10	89720833	89720833	+	Frame_Shift_Del	DEL	A	A	-																															aaaaatgatcttgacaaagcAaataaagacaaagccaaccg																										TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr10:89720833delA	ENST00000371953.3	+	8	2341	c.984delA	c.(982-984)gcfs	p.A328fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	328	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.T319_K332del(1)|p.G165_*404del(1)|p.A328fs*15(1)|p.W274_F341del(1)|p.A328fs*1(1)|p.D326_K342del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TTGACAAAGCAAATAAAGACA	0.328		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			21	74	---	---	---	---						-	89720833	A	-	89720833	7	5	168	1	0	1	0	1	0	0	0	0	12787	117	5	0	1014	0	PTEN	10	89720833	Frame_Shift_Del	DEL	A	TCGA-HC-7212-01A-11D-2114-08	77125609	89720833	45813914	22	7809											
RASSF7	8045	broad.mit.edu	37	chr11	562264	562264	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cagacagctgtccacccccgGaacgctgcctaattcgtgcc	8	7	9	17	3	0	1	0	0	0	1	2	2	1	2	5	1	4	2	5	1	2	2			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr11:562264G>A	ENST00000397583.3	+	3	743	c.310G>A	c.(310-312)Gaa>Aaa	p.E104K	RASSF7_ENST00000431809.1_Missense_Mutation_p.E104K|RASSF7_ENST00000454668.2_Missense_Mutation_p.E104K|RASSF7_ENST00000524468.1_3'UTR|RASSF7_ENST00000397582.3_Missense_Mutation_p.E104K|RASSF7_ENST00000344375.4_Missense_Mutation_p.E104K	NM_003475.3	NP_003466.1	Q02833	RASF7_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 7	104					regulation of transcription, DNA-dependent|signal transduction	nucleus	DNA binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(3)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TCCACCCCCGGAACGCTGCCT	0.667													5	49					0	0	1	0	0	A	562264	G	A	562264	3	1	168	1	0	0	0	0	1	0	0	0	13143	1175	41	2	316	2	RASSF7	11	562264	Missense_Mutation	SNP	G	TCGA-HC-7212-01A-11D-2114-08		562264	134444252	23	7810											
HBG2	3048	broad.mit.edu	37	chr11	5275612	5275612	+	Frame_Shift_Del	DEL	G	G	-																															agatcatccaggtgctttatGgcatctcccaaggaagtcag																										TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr11:5275612delG	ENST00000380259.2	-	7	1465	c.225delC	c.(223-225)gcfs	p.A75fs	HBG2_ENST00000336906.4_Frame_Shift_Del_p.A75fs|HBG2_ENST00000380252.1_Frame_Shift_Del_p.A65fs					hemoglobin, gamma G											endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	13		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTGCTTTATGGCATCTCCCA	0.527													11	217	---	---	---	---						-	5275612	G	-	5275612	7	5	168	1	0	1	0	1	0	0	0	0	7024	1335	47	0	226	0	HBG2	11	5275612	Frame_Shift_Del	DEL	G	TCGA-HC-7212-01A-11D-2114-08	4713348	5275612	129730904	24	7811											
TRIM6	117854	broad.mit.edu	37	chr11	5632556	5632556	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaattcctatgaccctgcGtcgtccaagctcttgaatat	9	14	7	11	2	1	2	0	2	1	0	4	2	3	2	3	0	2	2	3	0	5	5			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr11:5632556G>A	ENST00000380097.3	+	8	1777	c.1535G>A	c.(1534-1536)cGt>cAt	p.R512H	TRIM6-TRIM34_ENST00000354852.5_Intron|HBG2_ENST00000380259.2_Intron|TRIM6_ENST00000481603.1_3'UTR|AC015691.13_ENST00000394793.2_RNA|TRIM6_ENST00000507320.1_Missense_Mutation_p.R309H|TRIM6_ENST00000278302.5_Missense_Mutation_p.R484H|TRIM6_ENST00000506134.1_Missense_Mutation_p.R309H|TRIM6_ENST00000515022.1_Missense_Mutation_p.R309H|TRIM6_ENST00000380107.1_Missense_Mutation_p.R458H|TRIM6_ENST00000445329.1_Missense_Mutation_p.R309H	NM_001003818.2|NM_001198644.1|NM_001198645.1	NP_001003818.1|NP_001185573.1|NP_001185574.1			tripartite motif containing 6											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		ATGACCCTGCGTCGTCCAAGC	0.413													8	97					0	0	1	0	0	A	5632556	G	A	5632556	3	1	168	1	0	0	0	0	1	0	0	0	16594	1145	40	1	1565	1	TRIM6	11	5632556	Missense_Mutation	SNP	G	TCGA-HC-7212-01A-11D-2114-08	356944	5632556	129373960	25	7812											
AMHR2	269	broad.mit.edu	37	chr12	53819285	53819285	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcgaggtgagccagtgccAgagccaaggccagactcagg	10	4	16	11	1	1	3	1	1	0	2	1	4	1	3	4	3	4	0	4	3	1	0			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr12:53819285A>G	ENST00000257863.4	+	5	629	c.549A>G	c.(547-549)ccA>ccG	p.P183P	AMHR2_ENST00000550311.1_Silent_p.P183P|AMHR2_ENST00000379791.3_Silent_p.P183P	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	183					Mullerian duct regression		ATP binding|hormone binding|metal ion binding			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	AGCCAGTGCCAGAGCCAAGGC	0.592													3	80					0	0	1	0	0	G	53819285	A	G	53819285	2	3	168	1	0	0	0	0	0	0	0	1	569	175	7	3		3	AMHR2	12	53819285	Silent	SNP	A	TCGA-HC-7212-01A-11D-2114-08		53819285	80032610	26	7813											
HTR2A	3356	broad.mit.edu	37	chr13	47469888	47469888	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcacaggaaaggttggttcGattttcagagtcgactgtcc	9	13	11	8	2	2	1	2	0	0	1	5	4	3	2	1	3	0	2	1	3	1	5			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr13:47469888G>A	ENST00000378688.4	-	1	285	c.154C>T	c.(154-156)Cga>Tga	p.R52*	HTR2A_ENST00000543956.1_Intron|HTR2A_ENST00000542664.1_Nonsense_Mutation_p.R52*			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	52					ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	AGGTTGGTTCGATTTTCAGAG	0.443													4	40					0	0	1	0	0	A	47469888	G	A	47469888	4	1	168	1	0	0	0	0	0	1	0	0	7485	1066	37	1	1273	1	HTR2A	13	47469888	Nonsense_Mutation	SNP	G	TCGA-HC-7212-01A-11D-2114-08		47469888	67699990	27	7814											
SSTR1	0	broad.mit.edu	37	chr14	38679035	38679035	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttcaccagcatctactgTctgactgtgctcagcgtgga	8	12	10	11	1	4	1	2	1	2	0	4	2	4	2	1	1	4	3	1	1	1	2			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr14:38679035T>A	ENST00000267377.2	+	3	1058	c.441T>A	c.(439-441)tgT>tgA	p.C147*		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	147					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	GCATCTACTGTCTGACTGTGC	0.647													6	160					0	0	1	0	0	A	38679035	T	A	38679035	4	1	168	1	0	0	0	0	0	1	0	0	15253	1673	58	5	443	5	SSTR1	14	38679035	Nonsense_Mutation	SNP	T	TCGA-HC-7212-01A-11D-2114-08		38679035	68670505	28	7815											
RYR3	6263	broad.mit.edu	37	chr15	33928661	33928661	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgtatgattaacctggatGatgcttcaatgatcttcaca	12	14	8	7	0	3	3	2	3	1	0	3	5	3	4	1	1	2	2	1	1	3	4			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr15:33928661G>T	ENST00000389232.4	+	27	3536	c.3466G>T	c.(3466-3468)Gat>Tat	p.D1156Y	RYR3_ENST00000415757.3_Missense_Mutation_p.D1156Y	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1156	4 X approximate repeats.|B30.2/SPRY 2.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TAACCTGGATGATGCTTCAAT	0.483													4	145					1	1	1	1	0	T	33928661	G	T	33928661	3	4	168	1	0	0	0	0	1	0	0	0	13822	1290	45	4	3572	4	RYR3	15	33928661	Missense_Mutation	SNP	G	TCGA-HC-7212-01A-11D-2114-08		33928661	68602731	29	7816											
C15orf38	348110	broad.mit.edu	37	chr15	90447061	90447061	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgtaccccggcccccagctcGagttccatcacctccatctc	6	8	6	21	3	2	0	1	0	1	0	6	1	4	0	7	1	2	3	7	1	1	2			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr15:90447061G>A	ENST00000357484.5	-	4	576	c.456C>T	c.(454-456)ctC>ctT	p.L152L	C15orf38-AP3S2_ENST00000398333.3_Silent_p.L152L|C15orf38_ENST00000460685.1_Silent_p.L56L	NM_182616.2	NP_872422.1			chromosome 15 open reading frame 38											breast(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	10	Melanoma(11;0.0171)|Lung NSC(78;0.0181)|all_lung(78;0.0384)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)			CCCCCAGCTCGAGTTCCATCA	0.627													40	73					0	0	1	0	0	A	90447061	G	A	90447061	2	1	168	1	0	0	0	0	0	0	0	1	1798	1045	37	1		1	C15orf38	15	90447061	Silent	SNP	G	TCGA-HC-7212-01A-11D-2114-08	56518400	90447061	12084331	30	7817											
IRX6	79190	broad.mit.edu	37	chr16	55363026	55363026	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccacgaagtcctgagtgccGtatgattcctggacagcctc	8	9	11	13	2	0	2	0	2	0	0	3	4	2	3	5	1	2	1	5	1	2	2			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr16:55363026G>A	ENST00000290552.7	+	5	2468	c.1136G>A	c.(1135-1137)cGt>cAt	p.R379H	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	379						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						CCTGAGTGCCGTATGATTCCT	0.627													4	63					0	0	1	0	0	A	55363026	G	A	55363026	3	1	168	1	0	0	0	0	1	0	0	0	7892	1145	40	1	1154	1	IRX6	16	55363026	Missense_Mutation	SNP	G	TCGA-HC-7212-01A-11D-2114-08		55363026	34991727	31	7818											
CHD3	1107	broad.mit.edu	37	chr17	7806622	7806622	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcatcggattggccaggcCaacaaagtgatgatttaccg	11	9	11	10	2	1	2	1	2	0	0	2	3	1	3	3	3	2	1	3	3	3	3			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr17:7806622C>T	ENST00000380358.4	+	23	3706	c.3705C>T	c.(3703-3705)gcC>gcT	p.A1235A	CHD3_ENST00000330494.7_Silent_p.A1176A|CHD3_ENST00000358181.4_Silent_p.A1176A	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1176					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|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				TTGGCCAGGCCAACAAAGTGA	0.577													6	62					0	0	1	0	0	T	7806622	C	T	7806622	2	4	168	1	0	0	0	0	0	0	0	1	3348	581	21	2		2	CHD3	17	7806622	Silent	SNP	C	TCGA-HC-7212-01A-11D-2114-08		7806622	73388588	32	7819											
NCOR1	9611	broad.mit.edu	37	chr17	15971376	15971376	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgctgggatactttccctctGggtaggggtcagtgtcgatt	5	13	14	9	2	2	0	1	0	1	0	4	2	3	1	1	4	1	2	1	4	2	4			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr17:15971376G>A	ENST00000268712.3	-	32	4830	c.4573C>T	c.(4573-4575)Cag>Tag	p.Q1525*	NCOR1_ENST00000395851.1_Nonsense_Mutation_p.Q1541*|NCOR1_ENST00000395857.3_Nonsense_Mutation_p.Q109*	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1525	Interaction with C1D (By similarity).|Interaction with ETO.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CTTTCCCTCTGGGTAGGGGTC	0.493													6	19					0	0	1	0	0	A	15971376	G	A	15971376	4	1	168	1	0	0	0	0	0	1	0	0	10282	1357	47	2	2809	2	NCOR1	17	15971376	Nonsense_Mutation	SNP	G	TCGA-HC-7212-01A-11D-2114-08	8164754	15971376	65223834	33	7820											
ITGA2B	3674	broad.mit.edu	37	chr17	42458366	42458366	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acctcagcccctcactctgaCccaggaacaccagcacttgg	10	6	7	18	0	3	1	2	1	1	0	3	2	3	2	5	2	3	1	5	2	1	1			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr17:42458366C>A	ENST00000262407.5	-	13	1305	c.1274G>T	c.(1273-1275)gGt>gTt	p.G425V	ITGA2B_ENST00000377068.3_Missense_Mutation_p.G110V|ITGA2B_ENST00000353281.4_Missense_Mutation_p.G425V	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	425					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	CTCACTCTGACCCAGGAACAC	0.612													15	32					1.00905e-13	1.05109e-13	1	1	0	A	42458366	C	A	42458366	3	1	168	1	0	0	0	0	1	0	0	0	7920	507	18	4	1917	4	ITGA2B	17	42458366	Missense_Mutation	SNP	C	TCGA-HC-7212-01A-11D-2114-08	26486990	42458366	38736844	34	7821											
RGS9	8787	broad.mit.edu	37	chr17	63200388	63200388	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgctatgtgctggacgccgCacaaacccacatttacatgc	10	8	8	15	3	0	0	0	0	0	0	0	1	0	1	3	1	4	3	3	1	3	3			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr17:63200388C>T	ENST00000449996.3	+	15	1235	c.1163C>T	c.(1162-1164)gCa>gTa	p.A388V	RGS9_ENST00000262406.9_Missense_Mutation_p.A391V|RGS9_ENST00000443584.3_Missense_Mutation_p.A388V	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	391	RGS.				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						CTGGACGCCGCACAAACCCAC	0.557													4	44					0	0	1	0	0	T	63200388	C	T	63200388	3	4	168	1	0	0	0	0	1	0	0	0	13363	710	25	2	1230	2	RGS9	17	63200388	Missense_Mutation	SNP	C	TCGA-HC-7212-01A-11D-2114-08	20742022	63200388	17994822	35	7822											
SLC16A6	9120	broad.mit.edu	37	chr17	66267073	66267073	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctcaatgcccacgacatcatCctcagcaagcagtggaatgt	12	8	8	13	1	3	0	3	0	0	0	4	2	4	1	2	1	3	2	2	1	3	0			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr17:66267073C>T	ENST00000327268.4	-	6	1392	c.1228G>A	c.(1228-1230)Gat>Aat	p.D410N	ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Missense_Mutation_p.D410N	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	410						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	ACGACATCATCCTCAGCAAGC	0.468													8	97					0	0	1	0	0	T	66267073	C	T	66267073	3	4	168	1	0	0	0	0	1	0	0	0	14467	855	30	2	351	2	SLC16A6	17	66267073	Missense_Mutation	SNP	C	TCGA-HC-7212-01A-11D-2114-08	3066685	66267073	14928137	36	7823											
OTOP2	92736	broad.mit.edu	37	chr17	72926528	72926528	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcatgtggaagaatgtgggTagattcctggcctccacccc	8	10	12	11	0	1	2	1	0	0	2	3	3	3	3	5	3	0	1	5	3	3	2			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr17:72926528T>C	ENST00000331427.4	+	6	890	c.798T>C	c.(796-798)ggT>ggC	p.G266G	OTOP2_ENST00000580223.1_Silent_p.G266G	NM_178160.2	NP_835454.1	Q7RTS6	OTOP2_HUMAN	otopetrin 2	266						integral to membrane				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					AGAATGTGGGTAGATTCCTGG	0.572													76	169					0	0	1	0	0	C	72926528	T	C	72926528	2	2	168	1	0	0	0	0	0	0	0	1	11353	1625	57	3		3	OTOP2	17	72926528	Silent	SNP	T	TCGA-HC-7212-01A-11D-2114-08	6659455	72926528	8268682	37	7824											
RDH8	50700	broad.mit.edu	37	chr19	10131942	10131942	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcgccagcatctccctggTggagccaggccccgtggtca	5	7	14	15	2	2	0	1	0	1	0	4	1	2	1	5	5	2	1	5	5	0	0			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr19:10131942T>C	ENST00000591589.1	+	5	797	c.608T>C	c.(607-609)gTg>gCg	p.V203A	RDH8_ENST00000171214.1_Missense_Mutation_p.V183A			Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	183					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	ATCTCCCTGGTGGAGCCAGGC	0.532													4	50					0	0	1	0	0	C	10131942	T	C	10131942	3	2	168	1	0	0	0	0	1	0	0	0	13248	1696	59	3	566	3	RDH8	19	10131942	Missense_Mutation	SNP	T	TCGA-HC-7212-01A-11D-2114-08		10131942	48997041	38	7825											
PRKACA	5566	broad.mit.edu	37	chr19	14208444	14208444	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggtgccgcacaaggtccAagtgcggcccttcacgcgct	7	6	14	14	4	1	0	1	0	0	0	2	0	2	0	3	4	2	2	3	4	2	1			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr19:14208444A>C	ENST00000308677.4	-	7	785	c.589T>G	c.(589-591)Tgg>Ggg	p.W197G	PRKACA_ENST00000590853.1_Intron|PRKACA_ENST00000589994.1_Missense_Mutation_p.W189G|PRKACA_ENST00000350356.3_5'UTR	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha	197	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						CACAAGGTCCAAGTGCGGCCC	0.642													7	39					0	0	1	0	0	C	14208444	A	C	14208444	3	2	168	1	0	0	0	0	1	0	0	0	12549	130	5	5	482	5	PRKACA	19	14208444	Missense_Mutation	SNP	A	TCGA-HC-7212-01A-11D-2114-08	4076502	14208444	44920539	39	7826											
ANKLE1	126549	broad.mit.edu	37	chr19	17397230	17397230	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaagcaagggcactgctatGgagtggtggcaggctggcca	10	6	17	8	0	0	1	0	0	0	1	0	2	0	2	1	6	2	5	1	6	3	1			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr19:17397230G>A	ENST00000394458.3	+	9	1993	c.1717G>A	c.(1717-1719)Gga>Aga	p.G573R	ANKLE1_ENST00000433424.2_3'UTR|ANKLE1_ENST00000594072.1_Missense_Mutation_p.G536R|ANKLE1_ENST00000404085.1_Missense_Mutation_p.G569R|ANKLE1_ENST00000598347.1_Missense_Mutation_p.M500I	NM_152363.4	NP_689576.4	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	573						nuclear envelope				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						GCACTGCTATGGAGTGGTGGC	0.642													3	52					0	0	1	0	0	A	17397230	G	A	17397230	3	1	168	1	0	0	0	0	1	0	0	0	628	1349	47	2	1751	2	ANKLE1	19	17397230	Missense_Mutation	SNP	G	TCGA-HC-7212-01A-11D-2114-08	3188786	17397230	41731753	40	7827											
SYCP2	10388	broad.mit.edu	37	chr20	58470533	58470533	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgtcttccttctgatgatcTagatttcagtgatgcagcat	9	16	8	8	0	4	4	1	3	3	1	5	4	5	4	1	0	2	2	1	0	1	4			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr20:58470533T>C	ENST00000357552.3	-	20	1849	c.1624A>G	c.(1624-1626)Aga>Gga	p.R542G	SYCP2_ENST00000371001.2_Missense_Mutation_p.R542G			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	542					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TCTGATGATCTAGATTTCAGT	0.318													16	46					0	0	1	0	0	C	58470533	T	C	58470533	3	2	168	1	0	0	0	0	1	0	0	0	15489	1530	53	3	3072	3	SYCP2	20	58470533	Missense_Mutation	SNP	T	TCGA-HC-7212-01A-11D-2114-08		58470533	4554987	41	7828											
ASCC2	84164	broad.mit.edu	37	chr22	30185114	30185114	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgttcctgggttgtctcgCggctctgcccatggcctcgg	1	12	14	14	4	2	0	0	0	2	0	5	0	3	0	3	4	2	3	3	4	0	2	rs139016848	by1000genomes	TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chr22:30185114C>T	ENST00000397771.2	-	21	2339	c.2162G>A	c.(2161-2163)cGc>cAc	p.R721H	ASCC2_ENST00000307790.3_Missense_Mutation_p.R721H|ASCC2_ENST00000542393.1_Missense_Mutation_p.R645H			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	721					regulation of transcription, DNA-dependent|transcription, DNA-dependent					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			GGTTGTCTCGCGGCTCTGCCC	0.627													12	328					0	0	1	0	0	T	30185114	C	T	30185114	3	4	168	1	0	0	0	0	1	0	0	0	1031	768	27	1	115	1	ASCC2	22	30185114	Missense_Mutation	SNP	C	TCGA-HC-7212-01A-11D-2114-08		30185114	21119452	42	7829											
KDM6A	7403	broad.mit.edu	37	chrX	44966780	44966783	+	Splice_Site	DEL	AAGT	AAGT	-																															tcattactgtagcatttgtgAagtaagtaattgtttttatc																										TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chrX:44966780_44966783delAAGT	ENST00000377967.4	+	27	4045_4046	c.4005_splice	c.e27+1	p.1335_splice	KDM6A_ENST00000543216.1_Splice_Site_p.1256_splice|KDM6A_ENST00000536777.1_Splice_Site_p.1290_splice|KDM6A_ENST00000479423.1_3'UTR|KDM6A_ENST00000382899.4_Splice_Site_p.1342_splice	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1335					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						AGCATTTGTGAAGTAAGTAATTGT	0.348			"D, N, F, S"		"renal, oesophageal SCC, MM"								12	42	---	---	---	---						-	44966783	AAGT	-	44966780	8	5	168	1	0	1	0	1	0	0	1	0	8180	260	9	0	4110	0	KDM6A	23	44966780	Splice_Site	DEL	AAGT	TCGA-HC-7212-01A-11D-2114-08		44966780	110303780	43	7830											
RBM41	55285	broad.mit.edu	37	chrX	106312568	106312568	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccttttttctcctggaacCgagcgaacaatgacacaaga	12	10	8	11	2	1	2	0	1	1	1	3	5	2	3	3	1	3	0	3	1	4	3			TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chrX:106312568C>T	ENST00000372487.1	-	6	1018	c.992G>A	c.(991-993)cGg>cAg	p.R331Q	RBM41_ENST00000372479.3_Missense_Mutation_p.R331Q	NM_001171080.1	NP_001164551.1	Q96IZ5	RBM41_HUMAN	RNA binding motif protein 41	331	RRM.						nucleotide binding|RNA binding	p.R331Q(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	13						CTCCTGGAACCGAGCGAACAA	0.418													48	13					0	0	1	0	0	T	106312568	C	T	106312568	3	4	168	1	0	0	0	0	1	0	0	0	13187	652	23	1	266	1	RBM41	23	106312568	Missense_Mutation	SNP	C	TCGA-HC-7212-01A-11D-2114-08	61345788	106312568	48957992	44	7831											
CD99L2	83692	broad.mit.edu	37	chrX	149937526	149937528	+	In_Frame_Del	DEL	GGC	GGC	-																															ctcagatccgggctggttcgGgcggcggcggcggctctgca																								rs7877654	byFrequency	TCGA-HC-7212-01A-11D-2114-08	TCGA-HC-7212-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41815e8f-0332-4826-90c9-ee944f3887a0	4bbff9a5-b19a-4c1c-ae0f-dba68d92e01c	g.chrX:149937526_149937528delGGC	ENST00000370377.3	-	11	885_887	c.768_770delGCC	c.(766-771)ccc>cc	p.PP256del	CD99L2_ENST00000437787.2_In_Frame_Del_p.PP183del|CD99L2_ENST00000355149.3_In_Frame_Del_p.PP184del|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000466436.1_In_Frame_Del_p.PP207del	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	256	Poly-Pro.				cell adhesion	cell junction|integral to membrane				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GGCTGGTTCGGGCGGCGGCGGCG	0.611													7	110	---	---	---	---						-	149937528	GGC	-	149937526	7	5	168	1	0	1	0	1	0	0	0	0	3073	1232	43	0	22	0	CD99L2	23	149937526	In_Frame_Del	DEL	GGC	TCGA-HC-7212-01A-11D-2114-08	43624958	149937526	5333034	45	7832											
ECE1	1889	broad.mit.edu	37	chr1	21564710	21564710	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgttttctgtgtcactcaCgcaaaacttccagcgaggaa	10	12	9	10	2	3	0	2	0	1	0	4	2	4	1	1	1	2	3	1	1	3	4			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr1:21564710C>A	ENST00000415912.2	-	11	1383	c.1258G>T	c.(1258-1260)Gtg>Ttg	p.V420L	ECE1_ENST00000528294.1_5'UTR|ECE1_ENST00000374893.6_Missense_Mutation_p.V436L|ECE1_ENST00000436918.2_Missense_Mutation_p.V436L|ECE1_ENST00000357071.4_Missense_Mutation_p.V424L|ECE1_ENST00000264205.6_Missense_Mutation_p.V433L	NM_001113348.1	NP_001106819.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	436					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		GTGTCACTCACGCAAAACTTC	0.552													3	33					0.150653	0.155289	1	1	0	A	21564710	C	A	21564710	3	1	169	1	0	0	0	0	1	0	0	0	4915	536	19	4	1042	4	ECE1	1	21564710	Missense_Mutation	SNP	C	TCGA-HC-7213-01A-11D-2114-08		21564710	227685911	1	7833											
MACF1	23499	broad.mit.edu	37	chr1	39783026	39783026	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttggagcgctatcaggaaaaAggctcccagctgcaggagcg	11	6	14	10	2	1	0	1	0	0	0	2	3	2	3	1	4	4	4	1	4	3	2			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr1:39783026A>G	ENST00000564288.1	+	29	4506	c.3729A>G	c.(3727-3729)aaA>aaG	p.K1243K	MACF1_ENST00000317713.7_Silent_p.K1248K|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000372915.3_Silent_p.K1248K|MACF1_ENST00000539005.1_Silent_p.K1248K|MACF1_ENST00000567887.1_Silent_p.K1280K|MACF1_ENST00000545844.1_Silent_p.K1248K|MACF1_ENST00000361689.2_Silent_p.K1248K			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1248					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATCAGGAAAAAGGCTCCCAGC	0.542													3	36					0	0	1	0	0	G	39783026	A	G	39783026	2	3	169	1	0	0	0	0	0	0	0	1	9190	69	3	3		3	MACF1	1	39783026	Silent	SNP	A	TCGA-HC-7213-01A-11D-2114-08	18218316	39783026	209467595	2	7834											
ASB17	127247	broad.mit.edu	37	chr1	76397716	76397716	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acacatatttcagtgaagtcGaggttaaaacttacttcaaa	16	12	6	7	1	2	1	2	1	0	0	3	2	2	1	0	1	2	1	0	1	6	5	rs11811988		TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr1:76397716G>A	ENST00000284142.6	-	1	400	c.261C>T	c.(259-261)ctC>ctT	p.L87L		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	87					intracellular signal transduction					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						CAGTGAAGTCGAGGTTAAAAC	0.378													17	28					0	0	1	0	0	A	76397716	G	A	76397716	2	1	169	1	0	0	0	0	0	0	0	1	1020	1045	37	1		1	ASB17	1	76397716	Silent	SNP	G	TCGA-HC-7213-01A-11D-2114-08	36614690	76397716	172852905	3	7835											
HFM1	164045	broad.mit.edu	37	chr1	91859724	91859724	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttgtatcatcaggaacactCttctcaggtgctatctcagt	9	15	7	10	0	5	0	4	0	3	0	7	1	5	1	0	2	2	2	0	2	3	4			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr1:91859724C>G	ENST00000370425.3	-	4	518	c.420G>C	c.(418-420)aaG>aaC	p.K140N	HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Intron	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	140							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		CAGGAACACTCTTCTCAGGTG	0.333													21	66					0	0	1	0	0	G	91859724	C	G	91859724	3	3	169	1	0	0	0	0	1	0	0	0	7124	912	32	4	4031	4	HFM1	1	91859724	Missense_Mutation	SNP	C	TCGA-HC-7213-01A-11D-2114-08	15462008	91859724	157390897	4	7836											
VIT	5212	broad.mit.edu	37	chr2	37035976	37035976	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagagggtgggctactggaGtggtggcaccagcacggggg	8	5	20	8	1	0	1	0	0	0	1	0	2	0	2	1	7	2	3	1	7	2	1			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr2:37035976G>A	ENST00000379242.3	+	15	2053	c.1751G>A	c.(1750-1752)aGt>aAt	p.S584N	VIT_ENST00000401530.1_Missense_Mutation_p.S548N|VIT_ENST00000379241.3_Missense_Mutation_p.S547N|VIT_ENST00000497382.1_Missense_Mutation_p.S238N|VIT_ENST00000389975.3_Missense_Mutation_p.S569N|VIT_ENST00000404084.1_Missense_Mutation_p.S521N	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	569	VWFA 2.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				GGCTACTGGAGTGGTGGCACC	0.567													3	64					0	0	1	0	0	A	37035976	G	A	37035976	3	1	169	1	0	0	0	0	1	0	0	0	17231	1029	36	2	1930	2	VIT	2	37035976	Missense_Mutation	SNP	G	TCGA-HC-7213-01A-11D-2114-08		37035976	206163397	5	7837											
OTX1	5013	broad.mit.edu	37	chr2	63282957	63282957	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggctcagcgcccgcgtccGtgtcggtgccggagccattg	4	7	15	15	6	1	0	1	0	0	0	3	1	2	1	4	3	3	1	4	3	0	1			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr2:63282957G>A	ENST00000366671.3	+	5	847	c.571G>A	c.(571-573)Gtg>Atg	p.V191M	OTX1_ENST00000282549.2_Missense_Mutation_p.V191M	NM_001199770.1	NP_001186699.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	191						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					GCCCGCGTCCGTGTCGGTGCC	0.682													3	16					0	0	1	0	0	A	63282957	G	A	63282957	3	1	169	1	0	0	0	0	1	0	0	0	11367	1145	40	1	581	1	OTX1	2	63282957	Missense_Mutation	SNP	G	TCGA-HC-7213-01A-11D-2114-08	26246981	63282957	179916416	6	7838											
DOK1	1796	broad.mit.edu	37	chr2	74783766	74783766	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccccttggacagcacgtctgCtcaggcaggagagggagtac	9	6	14	12	1	2	1	1	0	1	1	2	4	2	3	2	4	3	4	2	4	1	2			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr2:74783766C>G	ENST00000233668.5	+	5	1640	c.971C>G	c.(970-972)gCt>gGt	p.A324G	DOK1_ENST00000480318.1_3'UTR|DOK1_ENST00000340004.6_3'UTR|DOK1_ENST00000409429.1_Missense_Mutation_p.A185G	NM_001381.3	NP_001372.1	Q99704	DOK1_HUMAN	docking protein 1, 62kDa (downstream of tyrosine kinase 1)	324					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol|perinuclear region of cytoplasm	insulin receptor binding			endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						AGCACGTCTGCTCAGGCAGGA	0.567													26	100					0	0	1	0	0	G	74783766	C	G	74783766	3	3	169	1	0	0	0	0	1	0	0	0	4723	797	28	4	989	4	DOK1	2	74783766	Missense_Mutation	SNP	C	TCGA-HC-7213-01A-11D-2114-08	11500809	74783766	168415607	7	7839											
UBR3	130507	broad.mit.edu	37	chr2	170885949	170885949	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcacccagttagaagagaTgaatccacagtaagtataat	16	9	8	8	0	1	3	1	1	0	2	2	4	2	3	2	0	0	4	2	0	6	4			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr2:170885949T>A	ENST00000272793.5	+	31	4597	c.4547T>A	c.(4546-4548)aTg>aAg	p.M1516K	UBR3_ENST00000392631.1_Missense_Mutation_p.M337K|UBR3_ENST00000418381.1_Missense_Mutation_p.M1516K			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1516					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						TTAGAAGAGATGAATCCACAG	0.318													13	33					0	0	1	0	0	A	170885949	T	A	170885949	3	1	169	1	0	0	0	0	1	0	0	0	16964	1464	51	5	4669	5	UBR3	2	170885949	Missense_Mutation	SNP	T	TCGA-HC-7213-01A-11D-2114-08	96102183	170885949	72313424	8	7840											
SPHKAP	80309	broad.mit.edu	37	chr2	228881544	228881544	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgcacacttctctgcttgCgagggagagccaccagaaac	10	9	10	12	1	1	2	0	0	1	2	2	4	1	2	2	1	5	2	2	1	1	3			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr2:228881544C>T	ENST00000392056.3	-	7	4072	c.4026G>A	c.(4024-4026)tcG>tcA	p.S1342S	SPHKAP_ENST00000344657.5_Silent_p.S1342S	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1342						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCTCTGCTTGCGAGGGAGAGC	0.527													7	48					0	0	1	0	0	T	228881544	C	T	228881544	2	4	169	1	0	0	0	0	0	0	0	1	15104	755	27	1		1	SPHKAP	2	228881544	Silent	SNP	C	TCGA-HC-7213-01A-11D-2114-08	57995595	228881544	14317829	9	7841											
CPNE9	151835	broad.mit.edu	37	chr3	9754286	9754286	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagaagagcttagcaattgtCgggtcagtaagggccacatg	12	8	13	8	1	1	2	1	0	0	2	2	2	1	2	1	2	2	3	1	2	4	3			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr3:9754286C>T	ENST00000383832.3	+	8	629	c.439C>T	c.(439-441)Cgg>Tgg	p.R147W	CPNE9_ENST00000383831.3_Missense_Mutation_p.R147W	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	147	C2 2.									breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					TAGCAATTGTCGGGTCAGTAA	0.532													44	71					0	0	1	0	0	T	9754286	C	T	9754286	3	4	169	1	0	0	0	0	1	0	0	0	3842	875	31	1	465	1	CPNE9	3	9754286	Missense_Mutation	SNP	C	TCGA-HC-7213-01A-11D-2114-08		9754286	188268144	10	7842											
MST1R	4486	broad.mit.edu	37	chr3	49935036	49935036	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttagtcacggtgaggctgaCgttggtaggccccactgcct	6	10	14	11	2	1	2	1	2	0	0	1	2	1	2	3	4	1	4	3	4	2	3			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr3:49935036C>T	ENST00000296474.3	-	6	1990	c.1963G>A	c.(1963-1965)Gtc>Atc	p.V655I	MST1R_ENST00000344206.4_Missense_Mutation_p.V655I	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	655	IPT/TIG 1.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GTGAGGCTGACGTTGGTAGGC	0.607													4	67					0	0	1	0	0	T	49935036	C	T	49935036	3	4	169	1	0	0	0	0	1	0	0	0	9939	536	19	1	2299	1	MST1R	3	49935036	Missense_Mutation	SNP	C	TCGA-HC-7213-01A-11D-2114-08	40180750	49935036	148087394	11	7843											
PLSCR1	5359	broad.mit.edu	37	chr3	146246434	146246434	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctaatccaggtggacagttTaatggaggctgtggcgctgg	8	11	15	7	1	1	0	0	0	1	0	2	2	2	2	1	6	0	3	1	6	2	3			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr3:146246434T>C	ENST00000342435.4	-	4	689	c.279A>G	c.(277-279)ttA>ttG	p.L93L	PLSCR1_ENST00000448205.1_Intron|PLSCR1_ENST00000448787.2_Intron|PLSCR1_ENST00000487389.1_Silent_p.L86L	NM_021105.2	NP_066928.1	O15162	PLS1_HUMAN	phospholipid scramblase 1	93					phospholipid scrambling|platelet activation|response to virus	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						GTGGACAGTTTAATGGAGGCT	0.428													65	99					0	0	1	0	0	C	146246434	T	C	146246434	2	2	169	1	0	0	0	0	0	0	0	1	12157	1751	61	3		3	PLSCR1	3	146246434	Silent	SNP	T	TCGA-HC-7213-01A-11D-2114-08	96311398	146246434	51775996	12	7844											
PLSCR5	389158	broad.mit.edu	37	chr3	146307581	146307581	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaatcttcccaattgtaagCttttcattaatggttttcac	11	17	5	8	0	3	0	2	0	1	0	4	1	4	0	1	1	1	3	1	1	4	8			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr3:146307581C>T	ENST00000443512.1	-	6	1639	c.636G>A	c.(634-636)aaG>aaA	p.K212K	PLSCR5-AS1_ENST00000473817.1_RNA|PLSCR5_ENST00000482567.1_Silent_p.K200K|PLSCR5_ENST00000492200.1_Silent_p.K212K	NM_001085420.1	NP_001078889.1	A0PG75	PLS5_HUMAN	phospholipid scramblase family, member 5	212										endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						CAATTGTAAGCTTTTCATTAA	0.328													3	53					0	0	1	0	0	T	146307581	C	T	146307581	2	4	169	1	0	0	0	0	0	0	0	1	12161	796	28	2		2	PLSCR5	3	146307581	Silent	SNP	C	TCGA-HC-7213-01A-11D-2114-08	61147	146307581	51714849	13	7845											
HTR3C	170572	broad.mit.edu	37	chr3	183778109	183778109	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcttcatggcctcctccaTccttactgtcattgtcctct	4	16	5	16	0	4	0	2	0	2	0	8	0	8	0	5	1	1	1	5	1	1	3			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr3:183778109T>A	ENST00000318351.1	+	9	1347	c.1313T>A	c.(1312-1314)aTc>aAc	p.I438N		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	438						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GCCTCCTCCATCCTTACTGTC	0.567													90	170					0	0	1	0	0	A	183778109	T	A	183778109	3	1	169	1	0	0	0	0	1	0	0	0	7490	1435	50	5	1347	5	HTR3C	3	183778109	Missense_Mutation	SNP	T	TCGA-HC-7213-01A-11D-2114-08	37470528	183778109	14244321	14	7846											
HTT	3064	broad.mit.edu	37	chr4	3076673	3076675	+	In_Frame_Del	DEL	CCG	CCG	-																															agcagcagcaacagccgccaCcgccgccgccgccgccgccg																										TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr4:3076673_3076675delCCG	ENST00000355072.5	+	1	266_268	c.121_123delCCG	c.(121-123)del	p.P49del		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	49	Poly-Pro.				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		acagccgccaccgccgccgccgc	0.744													2	4	---	---	---	---						-	3076675	CCG	-	3076673	7	5	169	1	0	1	0	1	0	0	0	0	7501	507	18	0	123	0	HTT	4	3076673	In_Frame_Del	DEL	CCG	TCGA-HC-7213-01A-11D-2114-08		3076673	188077603	15	7847											
CDKL2	8999	broad.mit.edu	37	chr4	76532380	76532380	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttacttgccatacttgaCatcaccaaccaatagttctg	11	13	5	12	0	3	1	1	1	2	0	3	1	3	1	3	0	4	1	3	0	5	6			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr4:76532380C>T	ENST00000429927.2	-	4	1232	c.529G>A	c.(529-531)Gtc>Atc	p.V177I	CDKL2_ENST00000307465.4_Missense_Mutation_p.V177I	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	177	Protein kinase.				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			CCATACTTGACATCACCAACC	0.418													41	54					0	0	1	0	0	T	76532380	C	T	76532380	3	4	169	1	0	0	0	0	1	0	0	0	3176	478	17	2	984	2	CDKL2	4	76532380	Missense_Mutation	SNP	C	TCGA-HC-7213-01A-11D-2114-08	73455707	76532380	114621896	16	7848											
MTTP	4547	broad.mit.edu	37	chr4	100534204	100534204	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agacctgtcacctttttcaaCggatacagtgatttgatgtc	10	14	8	9	1	2	3	2	2	0	1	3	4	2	4	2	1	2	0	2	1	2	4			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr4:100534204C>T	ENST00000457717.1	+	16	2380	c.2124C>T	c.(2122-2124)aaC>aaT	p.N708N	RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000265517.5_Silent_p.N708N|MTTP_ENST00000511045.1_Silent_p.N735N	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	708					lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity	p.N708N(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	CCTTTTTCAACGGATACAGTG	0.478													3	78					0	0	1	0	0	T	100534204	C	T	100534204	2	4	169	1	0	0	0	0	0	0	0	1	10012	535	19	1		1	MTTP	4	100534204	Silent	SNP	C	TCGA-HC-7213-01A-11D-2114-08	24001824	100534204	90620072	17	7849											
NDST4	64579	broad.mit.edu	37	chr4	115856461	115856461	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtagaaaatagtgtgagtGaacaacccacaagtctgtcg	14	10	10	7	1	1	3	0	2	1	1	2	3	1	3	1	0	2	1	1	0	7	3			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr4:115856461G>T	ENST00000264363.2	-	6	2115	c.1437C>A	c.(1435-1437)ttC>ttA	p.F479L		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	479	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TAGTGTGAGTGAACAACCCAC	0.413													18	38					6.94344e-10	8.16159e-10	1	1	0	T	115856461	G	T	115856461	3	4	169	1	0	0	0	0	1	0	0	0	10305	1281	45	4	1217	4	NDST4	4	115856461	Missense_Mutation	SNP	G	TCGA-HC-7213-01A-11D-2114-08	15322257	115856461	75297815	18	7850											
KIAA1109	84162	broad.mit.edu	37	chr4	123091780	123091780	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatcttttaggcctttagatGttgttctggaaaaactttag	11	17	8	5	0	2	1	0	0	2	1	2	2	2	2	1	2	1	2	1	2	6	8			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr4:123091780G>A	ENST00000264501.4	+	0	351				KIAA1109_ENST00000455637.1_De_novo_Start_OutOfFrame|KIAA1109_ENST00000388738.3_De_novo_Start_OutOfFrame			Q2LD37	K1109_HUMAN	KIAA1109						regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GCCTTTAGATGTTGTTCTGGA	0.279													10	7					0	0	1	0	0	A	123091780	G	A	123091780	1	1	169	1	0	0	0	0	0	0	0	0	8250	1392	48	2		2	KIAA1109	4	123091780	Translation_Start_Site	SNP	G	TCGA-HC-7213-01A-11D-2114-08	7235319	123091780	68062496	19	7851											
ADCY2	108	broad.mit.edu	37	chr5	7414748	7414748	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccctggcgattttctttgcGatatttatcctggtctgcat	5	17	9	10	2	2	0	0	0	2	0	3	2	3	0	2	2	2	1	2	2	2	6	rs149944070		TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr5:7414748G>A	ENST00000338316.4	+	2	362	c.273G>A	c.(271-273)gcG>gcA	p.A91A		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	91					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TTTTCTTTGCGATATTTATCC	0.428													6	148					0	0	1	0	0	A	7414748	G	A	7414748	2	1	169	1	0	0	0	0	0	0	0	1	293	1045	37	1		1	ADCY2	5	7414748	Silent	SNP	G	TCGA-HC-7213-01A-11D-2114-08		7414748	173500512	20	7852											
HSPA9	3313	broad.mit.edu	37	chr5	137892208	137892209	+	Frame_Shift_Del	DEL	TT	TT	-																															aggatgctgcctgtctaataTtttctcctgtttcgctgtct																										TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr5:137892208_137892209delTT	ENST00000297185.3	-	16	2019_2020	c.1894_1895delAA	c.(1894-1896)tfs	p.N632fs	HSPA9_ENST00000501917.2_Intron	NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)	632					anti-apoptosis|protein folding	cell surface|mitochondrial nucleoid	ATP binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CTGTCTAATATTTTCTCCTGTT	0.401													86	100	---	---	---	---						-	137892209	TT	-	137892208	7	5	169	1	0	1	0	1	0	0	0	0	7460	1493	52	0	152	0	HSPA9	5	137892208	Frame_Shift_Del	DEL	TT	TCGA-HC-7213-01A-11D-2114-08	130477460	137892208	43023052	21	7853											
RANBP9	10048	broad.mit.edu	37	chr6	13697085	13697085	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggctgctggtattggatgCgtggctcgaactgacgcggc	6	9	16	10	4	0	1	0	1	0	0	1	3	0	2	0	5	3	4	0	5	2	2			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr6:13697085C>T	ENST00000011619.3	-	2	673	c.615G>A	c.(613-615)acG>acA	p.T205T		NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	205	B30.2/SPRY.				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			GTATTGGATGCGTGGCTCGAA	0.403													5	129					0	0	1	0	0	T	13697085	C	T	13697085	2	4	169	1	0	0	0	0	0	0	0	1	13084	755	27	1		1	RANBP9	6	13697085	Silent	SNP	C	TCGA-HC-7213-01A-11D-2114-08		13697085	157417982	22	7854											
TRIM31	11074	broad.mit.edu	37	chr6	30078314	30078314	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caactgtggctcagtggaggCaacatagtgtttccccgctt	8	11	11	11	1	1	0	1	0	0	0	2	1	2	1	2	3	2	4	2	3	3	3			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr6:30078314C>T	ENST00000376734.3	-	4	780	c.655G>A	c.(655-657)Gcc>Acc	p.A219T	TRIM31_ENST00000485864.1_5'UTR|TRIM31_ENST00000540829.1_Missense_Mutation_p.A219T|TRIM31-AS1_ENST00000440874.1_RNA	NM_007028.3	NP_008959.3	Q9BZY9	TRI31_HUMAN	tripartite motif containing 31	219				ASTEPQLNDLKKLVDSLK -> EIPLMPTVERSQEARCYP (in Ref. 6; CAA69165).		mitochondrion	ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						TCAGTGGAGGCAACATAGTGT	0.522													5	145					0	0	1	0	0	T	30078314	C	T	30078314	3	4	169	1	0	0	0	0	1	0	0	0	16566	710	25	2	646	2	TRIM31	6	30078314	Missense_Mutation	SNP	C	TCGA-HC-7213-01A-11D-2114-08	16381229	30078314	141036753	23	7855											
COL12A1	1303	broad.mit.edu	37	chr6	75812377	75812377	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggaccctgggggcctggaGgacctatgtctccacgagga	8	6	16	11	1	1	0	0	0	1	0	2	6	1	4	4	6	0	0	4	6	1	1			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr6:75812377G>A	ENST00000322507.8	-	56	8660	c.8351C>T	c.(8350-8352)cCt>cTt	p.P2784L	COL12A1_ENST00000483888.2_Missense_Mutation_p.P2784L|COL12A1_ENST00000345356.6_Missense_Mutation_p.P1620L|COL12A1_ENST00000416123.2_Missense_Mutation_p.P2708L	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2784	Triple-helical region (COL2) with 1 imperfection.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GGGGCCTGGAGGACCTATGTC	0.502													13	8					0	0	1	0	0	A	75812377	G	A	75812377	3	1	169	1	0	0	0	0	1	0	0	0	3692	1000	35	2	884	2	COL12A1	6	75812377	Missense_Mutation	SNP	G	TCGA-HC-7213-01A-11D-2114-08	45734063	75812377	95302690	24	7856											
MAS1	4142	broad.mit.edu	37	chr6	160328313	160328313	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctacacaattgtcacattatCagtgacttttctgtttggct	9	17	6	9	0	3	1	2	1	1	0	3	1	3	1	0	1	1	2	0	1	3	6			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr6:160328313C>T	ENST00000252660.4	+	1	340	c.326C>T	c.(325-327)tCa>tTa	p.S109L		NM_002377.2	NP_002368.1	P04201	MAS_HUMAN	MAS1 oncogene	109					anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade	integral to plasma membrane	angiotensin type II receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)		GTCACATTATCAGTGACTTTT	0.453													34	88					0	0	1	0	0	T	160328313	C	T	160328313	3	4	169	1	0	0	0	0	1	0	0	0	9370	838	29	2	328	2	MAS1	6	160328313	Missense_Mutation	SNP	C	TCGA-HC-7213-01A-11D-2114-08	84515936	160328313	10786754	25	7857											
GIMAP8	155038	broad.mit.edu	37	chr7	150174547	150174547	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagcagactttacgaaataCgcgattatgctgttcacccg	11	10	10	10	4	1	1	1	0	0	1	1	4	1	2	1	1	4	3	1	1	4	5			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr7:150174547C>T	ENST00000307271.3	+	5	2251	c.1677C>T	c.(1675-1677)taC>taT	p.Y559Y		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	559						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TTACGAAATACGCGATTATGC	0.473													7	114					0	0	1	0	0	T	150174547	C	T	150174547	2	4	169	1	0	0	0	0	0	0	0	1	6427	547	19	1		1	GIMAP8	7	150174547	Silent	SNP	C	TCGA-HC-7213-01A-11D-2114-08		150174547	8964116	26	7858											
RALYL	138046	broad.mit.edu	37	chr8	85097149	85097149	+	Translation_Start_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggggctggctccaggccAcgcgagccggagctggagac	7	3	19	12	3	0	1	0	0	0	1	1	5	1	3	3	7	2	3	3	7	0	0			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr8:85097149A>T	ENST00000517638.1	+	0	40				RALYL_ENST00000522455.1_Intron|RALYL_ENST00000518566.1_Intron|RALYL_ENST00000521268.1_Intron|RALYL_ENST00000521695.1_Intron	NM_001100391.1	NP_001093861.1	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like								identical protein binding|nucleotide binding|RNA binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						GCTCCAGGCCACGCGAGCCGG	0.657													11	18					0	0	1	0	0	T	85097149	A	T	85097149	1	4	169	1	0	0	0	0	0	0	0	0	13072	174	6	5		5	RALYL	8	85097149	Translation_Start_Site	SNP	A	TCGA-HC-7213-01A-11D-2114-08		85097149	61266873	27	7859											
FBXO43	286151	broad.mit.edu	37	chr8	101154018	101154018	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagatacattcaaccttctgCgaggtaaacattttttccca	13	13	5	10	1	2	1	1	0	1	1	3	2	3	1	2	1	4	1	2	1	5	7			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr8:101154018C>T	ENST00000428847.2	-	2	780	c.464G>A	c.(463-465)cGc>cAc	p.R155H		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	155					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			CAACCTTCTGCGAGGTAAACA	0.343													47	70					0	0	1	0	0	T	101154018	C	T	101154018	3	4	169	1	0	0	0	0	1	0	0	0	5785	768	27	1	1678	1	FBXO43	8	101154018	Missense_Mutation	SNP	C	TCGA-HC-7213-01A-11D-2114-08	16056869	101154018	45210004	28	7860											
PTCHD3	374308	broad.mit.edu	37	chr10	27692213	27692213	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcaacagcaggccaaagcCgctcaccactgccaagaaag	14	3	10	14	1	1	1	1	0	0	1	1	1	1	1	4	1	5	3	4	1	4	0			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr10:27692213C>T	ENST00000438700.3	-	3	1402	c.1285G>A	c.(1285-1287)Ggc>Agc	p.G429S		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	429	SSD.				spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						AGGCCAAAGCCGCTCACCACT	0.453													8	95					0	0	1	0	0	T	27692213	C	T	27692213	3	4	169	1	0	0	0	0	1	0	0	0	12783	652	23	1	1026	1	PTCHD3	10	27692213	Missense_Mutation	SNP	C	TCGA-HC-7213-01A-11D-2114-08		27692213	107842534	29	7861											
SORCS3	22986	broad.mit.edu	37	chr10	106976777	106976777	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacttcagccccatcgaggaCggcatcaagcacgtgtataa	13	7	9	12	3	2	0	2	0	0	0	3	2	2	1	2	2	3	3	2	2	4	3	rs143982937	byFrequency	TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr10:106976777C>T	ENST00000369701.3	+	19	2858	c.2631C>T	c.(2629-2631)gaC>gaT	p.D877D	SORCS3_ENST00000369699.4_Silent_p.D163D	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	877	PKD.					integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CCATCGAGGACGGCATCAAGC	0.527													9	71					0	0	1	0	0	T	106976777	C	T	106976777	2	4	169	1	0	0	0	0	0	0	0	1	14986	535	19	1		1	SORCS3	10	106976777	Silent	SNP	C	TCGA-HC-7213-01A-11D-2114-08	79284564	106976777	28557970	30	7862											
MKI67	4288	broad.mit.edu	37	chr10	129899951	129899951	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttattttggcgtctggaGcgcagggatattccctaaag	8	13	12	8	2	2	0	0	0	2	0	3	2	3	2	1	3	1	1	1	3	4	6			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr10:129899951G>A	ENST00000368654.3	-	14	9651	c.9276C>T	c.(9274-9276)cgC>cgT	p.R3092R	MKI67_ENST00000368653.3_Silent_p.R2732R	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	3092					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GGCGTCTGGAGCGCAGGGATA	0.363													3	30					0	0	1	0	0	A	129899951	G	A	129899951	2	1	169	1	0	0	0	0	0	0	0	1	9646	958	34	2		2	MKI67	10	129899951	Silent	SNP	G	TCGA-HC-7213-01A-11D-2114-08	22923174	129899951	5634796	31	7863											
OR56A1	120796	broad.mit.edu	37	chr11	6048456	6048456	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaatgggtgcagtaagaagcGcattccgcaccacaatgaag	14	6	12	9	2	0	2	0	1	0	1	1	3	1	2	2	1	2	4	2	1	5	2	rs145606510	byFrequency	TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr11:6048456G>A	ENST00000316650.5	-	1	515	c.479C>T	c.(478-480)gCg>gTg	p.A160V		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGTAAGAAGCGCATTCCGCAC	0.493													8	124					0	0	1	0	0	A	6048456	G	A	6048456	3	1	169	1	0	0	0	0	1	0	0	0	11181	1087	38	1	481	1	OR56A1	11	6048456	Missense_Mutation	SNP	G	TCGA-HC-7213-01A-11D-2114-08		6048456	128958060	32	7864											
FIBP	9158	broad.mit.edu	37	chr11	65652991	65652991	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tccaggcacctgggtcagtgGgggcctcaccgacggctcca	6	6	14	15	2	2	0	2	0	0	0	4	1	4	0	5	5	0	2	5	5	0	0			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr11:65652991G>A	ENST00000338369.2	-	5	768	c.656C>T	c.(655-657)cCc>cTc	p.P219L	FIBP_ENST00000533045.1_Intron|FIBP_ENST00000357519.4_Intron	NM_198897.1	NP_942600.1	O43427	FIBP_HUMAN	fibroblast growth factor (acidic) intracellular binding protein	219					fibroblast growth factor receptor signaling pathway	endomembrane system|membrane|microsome|mitochondrion|nucleus	fibroblast growth factor binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	10				READ - Rectum adenocarcinoma(159;0.166)		TGGGTCAGTGGGGGCCTCACC	0.582											OREG0021089	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	130					0	0	1	0	0	A	65652991	G	A	65652991	3	1	169	1	0	0	0	0	1	0	0	0	5919	1232	43	2	462	2	FIBP	11	65652991	Missense_Mutation	SNP	G	TCGA-HC-7213-01A-11D-2114-08	59604535	65652991	69353525	33	7865											
CARD18	59082	broad.mit.edu	37	chr11	105009575	105009575	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgaggcaagttgagggtCttcttcacagagatgcttga	9	13	12	7	0	3	4	1	3	2	1	3	5	3	4	0	2	1	3	0	2	1	5			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr11:105009575C>A	ENST00000530950.1	-	2	237	c.238G>T	c.(238-240)Gac>Tac	p.D80Y	CARD18_ENST00000526823.1_Missense_Mutation_p.D41Y|CARD18_ENST00000532895.1_Missense_Mutation_p.D41Y	NM_021571.3	NP_067546.1	P57730	CAR18_HUMAN	caspase recruitment domain family, member 18	80	CARD.				inflammatory response|regulation of apoptosis	intracellular	cysteine-type endopeptidase inhibitor activity			central_nervous_system(1)|ovary(1)	2						AGTTGAGGGTCTTCTTCACAG	0.408													24	179					1.32003e-05	1.49902e-05	1	1	0	A	105009575	C	A	105009575	3	1	169	1	0	0	0	0	1	0	0	0	2667	913	32	4	38	4	CARD18	11	105009575	Missense_Mutation	SNP	C	TCGA-HC-7213-01A-11D-2114-08	39356584	105009575	29996941	34	7866											
EI24	9538	broad.mit.edu	37	chr11	125450015	125450015	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tttgtgagtctctttcccatCcatcttgtcggtcagctggt	4	17	9	11	1	3	1	1	1	2	0	7	1	5	1	2	2	1	1	2	2	0	3			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr11:125450015C>A	ENST00000278903.6	+	8	830	c.588C>A	c.(586-588)atC>atA	p.I196I	EI24_ENST00000343678.4_Silent_p.I196I|EI24_ENST00000530985.1_3'UTR|STT3A-AS1_ENST00000530526.1_RNA|STT3A-AS1_ENST00000532714.1_RNA	NM_004879.3	NP_004870.3	O14681	EI24_HUMAN	etoposide induced 2.4	196			I -> D (in some patients with early onset breast cancer; requires 2 nucleotide substitutions).		apoptosis|autophagy|induction of apoptosis|negative regulation of cell growth	endoplasmic reticulum membrane|integral to membrane|nuclear membrane				large_intestine(1)|lung(9)|ovary(1)	11	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)		TCTTTCCCATCCATCTTGTCG	0.423													104	179					4.07704e-43	5.15399e-43	1	1	0	A	125450015	C	A	125450015	2	1	169	1	0	0	0	0	0	0	0	1	5011	845	30	4		4	EI24	11	125450015	Silent	SNP	C	TCGA-HC-7213-01A-11D-2114-08	20440440	125450015	9556501	35	7867											
NTM	50863	broad.mit.edu	37	chr11	132177694	132177694	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtggccgcgcccgtggtacGgagagtaaaggtcaccgtga	8	6	16	11	6	1	2	1	1	0	1	1	3	1	2	3	4	1	2	3	4	3	2			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr11:132177694G>A	ENST00000374786.1	+	4	1117	c.638G>A	c.(637-639)cGg>cAg	p.R213Q	NTM_ENST00000374784.1_Missense_Mutation_p.R213Q|NTM_ENST00000425719.2_Missense_Mutation_p.R213Q|NTM_ENST00000427481.2_Missense_Mutation_p.R204Q|NTM_ENST00000374791.3_Missense_Mutation_p.R213Q|NTM_ENST00000539799.1_Missense_Mutation_p.R213Q|NTM_ENST00000474900.1_3'UTR	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	213	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						CCCGTGGTACGGAGAGTAAAG	0.582													7	30					0	0	1	0	0	A	132177694	G	A	132177694	3	1	169	1	0	0	0	0	1	0	0	0	10747	1116	39	1	738	1	NTM	11	132177694	Missense_Mutation	SNP	G	TCGA-HC-7213-01A-11D-2114-08	6727679	132177694	2828822	36	7868											
MYO1A	4640	broad.mit.edu	37	chr12	57436930	57436930	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttcttagccagggcgtcccGagcatactgagcctgtgggt	6	10	14	11	2	1	1	0	1	1	0	2	2	2	1	3	2	4	2	3	2	2	3			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr12:57436930G>A	ENST00000442789.2	-	13	1311	c.1024C>T	c.(1024-1026)Cgg>Tgg	p.R342W	MYO1A_ENST00000544473.1_Missense_Mutation_p.R180W|MYO1A_ENST00000300119.3_Missense_Mutation_p.R342W	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	342	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						AGGGCGTCCCGAGCATACTGA	0.542													5	80					0	0	1	0	0	A	57436930	G	A	57436930	3	1	169	1	0	0	0	0	1	0	0	0	10116	1057	37	1	2175	1	MYO1A	12	57436930	Missense_Mutation	SNP	G	TCGA-HC-7213-01A-11D-2114-08		57436930	76414965	37	7869											
DIO3	1735	broad.mit.edu	37	chr14	102028507	102028507	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaccggagcctggaggaccGggtcagcgcagcgagggtac	8	3	18	12	4	1	0	1	0	0	0	1	4	1	3	3	5	4	3	3	5	1	1			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr14:102028507G>A	ENST00000510508.4	+	1	820	c.674G>A	c.(673-675)cGg>cAg	p.R225Q	DIO3_ENST00000359323.3_Missense_Mutation_p.R199Q			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	199					cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				CTGGAGGACCGGGTCAGCGCA	0.642													8	101					0	0	1	0	0	A	102028507	G	A	102028507	3	1	169	1	0	0	0	0	1	0	0	0	4554	1116	39	1	676	1	DIO3	14	102028507	Missense_Mutation	SNP	G	TCGA-HC-7213-01A-11D-2114-08		102028507	5321033	38	7870											
CAPN3	825	broad.mit.edu	37	chr15	42679977	42679977	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctatggagagtgggtggaCgtggttatagatgactgcct	8	11	16	6	2	0	3	0	1	0	2	0	5	0	4	1	4	1	2	1	4	3	3	rs144383442	byFrequency	TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr15:42679977C>T	ENST00000397163.3	+	4	744	c.525C>T	c.(523-525)gaC>gaT	p.D175D	RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000357568.3_Silent_p.D175D|CAPN3_ENST00000356316.3_Silent_p.D88D|CAPN3_ENST00000349748.3_Silent_p.D175D|CAPN3_ENST00000318023.7_Silent_p.D175D	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	175	Calpain catalytic.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		AGTGGGTGGACGTGGTTATAG	0.493													35	160					0	0	1	0	0	T	42679977	C	T	42679977	2	4	169	1	0	0	0	0	0	0	0	1	2646	535	19	1		1	CAPN3	15	42679977	Silent	SNP	C	TCGA-HC-7213-01A-11D-2114-08		42679977	59851415	39	7871											
SEMA6D	80031	broad.mit.edu	37	chr15	48058097	48058097	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agaatgaggaagacaaaaagGtcatctcattacagttggat	17	9	10	5	0	2	3	2	1	1	2	3	5	2	5	0	3	1	1	0	3	5	2			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr15:48058097G>T	ENST00000316364.5	+	14	1898	c.1459G>T	c.(1459-1461)Gtc>Ttc	p.V487F	SEMA6D_ENST00000358066.4_Missense_Mutation_p.V487F|SEMA6D_ENST00000354744.4_Missense_Mutation_p.V487F|SEMA6D_ENST00000536845.2_Missense_Mutation_p.V487F|SEMA6D_ENST00000389433.2_Missense_Mutation_p.V487F|SEMA6D_ENST00000558816.1_Missense_Mutation_p.V487F|SEMA6D_ENST00000537942.1_Missense_Mutation_p.V487F|SEMA6D_ENST00000389432.2_Missense_Mutation_p.V487F|SEMA6D_ENST00000558014.1_Missense_Mutation_p.V487F|SEMA6D_ENST00000355997.3_Missense_Mutation_p.V487F|SEMA6D_ENST00000389428.3_Missense_Mutation_p.V487F	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	487	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		AGACAAAAAGGTCATCTCATT	0.428													28	50					2.81731e-10	3.37071e-10	1	1	0	T	48058097	G	T	48058097	3	4	169	1	0	0	0	0	1	0	0	0	14096	1261	44	4	1513	4	SEMA6D	15	48058097	Missense_Mutation	SNP	G	TCGA-HC-7213-01A-11D-2114-08	5378120	48058097	54473295	40	7872											
TAOK2	9344	broad.mit.edu	37	chr16	29998886	29998886	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgtcacccatggccttccGggccctgcagggctgtgggg	3	8	15	15	1	1	0	1	0	0	0	2	0	2	0	5	5	1	2	5	5	0	1			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr16:29998886G>A	ENST00000308893.4	+	16	4336	c.3293G>A	c.(3292-3294)cGg>cAg	p.R1098Q	TAOK2_ENST00000543033.1_Missense_Mutation_p.R985Q|TAOK2_ENST00000416441.2_Missense_Mutation_p.R925Q|TAOK2_ENST00000279394.3_Intron	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	1098					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						ATGGCCTTCCGGGCCCTGCAG	0.701													8	106					0	0	1	0	0	A	29998886	G	A	29998886	3	1	169	1	0	0	0	0	1	0	0	0	15605	1116	39	1	3351	1	TAOK2	16	29998886	Missense_Mutation	SNP	G	TCGA-HC-7213-01A-11D-2114-08		29998886	60355867	41	7873											
CDH8	1006	broad.mit.edu	37	chr16	61891049	61891049	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggctcaatggaaaaataaGgctgcccttccaatatacta	15	9	7	10	0	1	0	1	0	0	0	2	1	2	1	2	3	2	2	2	3	8	5			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr16:61891049G>T	ENST00000577390.1	-	4	1595	c.641C>A	c.(640-642)cCt>cAt	p.P214H	CDH8_ENST00000299345.6_Missense_Mutation_p.P214H|CDH8_ENST00000584337.1_Missense_Mutation_p.P214H|CDH8_ENST00000577730.1_Missense_Mutation_p.P214H	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	214	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GGAAAAATAAGGCTGCCCTTC	0.403													8	43					0.0477658	0.0507985	1	1	0	T	61891049	G	T	61891049	3	4	169	1	0	0	0	0	1	0	0	0	3138	1000	35	4	1794	4	CDH8	16	61891049	Missense_Mutation	SNP	G	TCGA-HC-7213-01A-11D-2114-08	31892163	61891049	28463704	42	7874											
DLG4	1742	broad.mit.edu	37	chr17	7096378	7096378	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctccattttctcccgggaCgacacaaagtggtaatcccg	9	11	8	13	3	2	0	0	0	2	0	5	2	3	1	3	2	0	1	3	2	2	4			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr17:7096378C>T	ENST00000399510.2	-	19	2733	c.1881G>A	c.(1879-1881)tcG>tcA	p.S627S	DLG4_ENST00000302955.6_Silent_p.S581S|DLG4_ENST00000399506.2_Silent_p.S584S	NM_001365.3	NP_001356.1	P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	584	Guanylate kinase-like.				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						TCTCCCGGGACGACACAAAGT	0.567													55	39					0	0	1	0	0	T	7096378	C	T	7096378	2	4	169	1	0	0	0	0	0	0	0	1	4585	523	19	1		1	DLG4	17	7096378	Silent	SNP	C	TCGA-HC-7213-01A-11D-2114-08		7096378	74098832	43	7875											
TP53	7157	broad.mit.edu	37	chr17	7578555	7578555	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgttgagggcaggggagtaCtgtaggaagaggaaggagac	12	7	19	3	0	0	3	0	1	0	2	0	7	0	6	0	6	1	4	0	6	4	4			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr17:7578555C>T	ENST00000420246.2	-	5	508		c.e5-1		TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						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.?(39)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)		CAGGGGAGTACTGTAGGAAGA	0.552		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)			11	6					0	0	1	0	0	T	7578555	C	T	7578555	5	4	169	1	0	0	0	0	0	0	1	0	16442	579	20	2	923	2	TP53	17	7578555	Splice_Site	SNP	C	TCGA-HC-7213-01A-11D-2114-08	482177	7578555	73616655	44	7876											
SLC5A10	125206	broad.mit.edu	37	chr17	18863892	18863892	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctgagtacattcagaagcGctacgggggccagcggatcc	10	6	13	12	3	1	2	1	1	0	1	2	3	2	3	3	3	4	2	3	3	3	3			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr17:18863892G>A	ENST00000317977.6	+	5	783	c.212G>A	c.(211-213)cGc>cAc	p.R71H	SLC5A10_ENST00000395642.1_Missense_Mutation_p.R71H|SLC5A10_ENST00000395645.3_Missense_Mutation_p.R127H|SLC5A10_ENST00000417251.2_Missense_Mutation_p.R127H|SLC5A10_ENST00000395643.2_Missense_Mutation_p.R127H|SLC5A10_ENST00000395647.2_Missense_Mutation_p.R127H			A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	127					sodium ion transport|transmembrane transport	integral to membrane	transporter activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						ATTCAGAAGCGCTACGGGGGC	0.607											OREG0024231	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	248					0	0	1	0	0	A	18863892	G	A	18863892	3	1	169	1	0	0	0	0	1	0	0	0	14717	1087	38	1	398	1	SLC5A10	17	18863892	Missense_Mutation	SNP	G	TCGA-HC-7213-01A-11D-2114-08	11285337	18863892	62331318	45	7877											
AOC2	314	broad.mit.edu	37	chr17	41002342	41002342	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctgtgtcccggacttacccCctttctcttaccacggcttc	4	13	6	18	2	1	0	0	0	1	0	4	1	2	1	5	2	2	1	5	2	2	4			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr17:41002342C>A	ENST00000253799.3	+	4	2275	c.2248C>A	c.(2248-2250)Cct>Act	p.P750T	AOC2_ENST00000452774.2_Missense_Mutation_p.P723T	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	750					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		GGACTTACCCCCTTTCTCTTA	0.557													5	255					2.0095e-06	2.32132e-06	1	1	0	A	41002342	C	A	41002342	3	1	169	1	0	0	0	0	1	0	0	0	723	623	22	4	2262	4	AOC2	17	41002342	Missense_Mutation	SNP	C	TCGA-HC-7213-01A-11D-2114-08	22138450	41002342	40192868	46	7878											
RUNDC1	146923	broad.mit.edu	37	chr17	41132963	41132963	+	Frame_Shift_Del	DEL	C	C	-																															cggagcagcagcgccttctgCgggagctcgaagacttcgcc																										TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr17:41132963delC	ENST00000361677.1	+	1	382	c.370delC	c.(370-372)ggfs	p.R124fs		NM_173079.2	NP_775102.2	Q96C34	RUND1_HUMAN	RUN domain containing 1	124										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		GCGCCTTCTGCGGGAGCTCGA	0.726													2	4	---	---	---	---						-	41132963	C	-	41132963	7	5	169	1	0	1	0	1	0	0	0	0	13794	759	27	0	372	0	RUNDC1	17	41132963	Frame_Shift_Del	DEL	C	TCGA-HC-7213-01A-11D-2114-08	130621	41132963	40062247	47	7879											
FASN	2194	broad.mit.edu	37	chr17	80046850	80046850	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaggctgggcctacctgcaGcagggcgtggggcgcgatct	5	6	17	13	3	1	0	0	0	1	0	1	1	1	0	3	5	3	3	3	5	1	1			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr17:80046850G>T	ENST00000306749.2	-	14	2517	c.2299C>A	c.(2299-2301)Ctg>Atg	p.L767M		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	767	Acyl and malonyl transferases (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	CCTACCTGCAGCAGGGCGTGG	0.697													7	9					0.00448238	0.00492327	1	1	0	T	80046850	G	T	80046850	3	4	169	1	0	0	0	0	1	0	0	0	5716	962	34	4	5356	4	FASN	17	80046850	Missense_Mutation	SNP	G	TCGA-HC-7213-01A-11D-2114-08	38913887	80046850	1148360	48	7880											
ROCK1	6093	broad.mit.edu	37	chr18	18625328	18625328	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatagaatcgtgcccattttTcaggcacatcatagttgctc	10	14	7	10	1	2	1	2	0	0	1	4	1	2	1	1	1	2	3	1	1	4	6			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr18:18625328T>C	ENST00000399799.1	-	5	1455	c.515A>G	c.(514-516)gAa>gGa	p.E172G		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	172	Protein kinase.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TGCCCATTTTTCAGGCACATC	0.368													8	5					0	0	1	0	0	C	18625328	T	C	18625328	3	2	169	1	0	0	0	0	1	0	0	0	13569	1783	62	3	3665	3	ROCK1	18	18625328	Missense_Mutation	SNP	T	TCGA-HC-7213-01A-11D-2114-08		18625328	59451920	49	7881											
WDR7	23335	broad.mit.edu	37	chr18	54547245	54547245	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagacggaagcaagctacCgctattgttttacttggagt	12	11	11	7	2	0	1	0	0	0	1	0	4	0	3	1	2	4	4	1	2	6	6			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr18:54547245C>A	ENST00000254442.3	+	21	3586	c.3375C>A	c.(3373-3375)acC>acA	p.T1125T	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Silent_p.T1092T	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1125										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		AGCAAGCTACCGCTATTGTTT	0.398													3	45					1	1	1	1	0	A	54547245	C	A	54547245	2	1	169	1	0	0	0	0	0	0	0	1	17380	639	23	4		4	WDR7	18	54547245	Silent	SNP	C	TCGA-HC-7213-01A-11D-2114-08	35921917	54547245	23530003	50	7882											
ADAMTS10	81794	broad.mit.edu	37	chr19	8668748	8668748	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaatcaggtactcttcctcGtctgccacgatcaggccgtg	7	11	9	14	3	5	0	3	0	2	0	7	1	6	0	3	2	2	1	3	2	2	2			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr19:8668748G>A	ENST00000270328.4	-	4	722	c.456C>T	c.(454-456)gaC>gaT	p.D152D	ADAMTS10_ENST00000596709.1_5'UTR|ADAMTS10_ENST00000597188.1_Silent_p.D152D			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	152					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						ACTCTTCCTCGTCTGCCACGA	0.572													11	48					0	0	1	0	0	A	8668748	G	A	8668748	2	1	169	1	0	0	0	0	0	0	0	1	255	1136	40	1		1	ADAMTS10	19	8668748	Silent	SNP	G	TCGA-HC-7213-01A-11D-2114-08		8668748	50460235	51	7883											
MUC16	94025	broad.mit.edu	37	chr19	9005698	9005698	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcggtgggtgcagatggcGtccactctggtggctactcc	4	9	17	11	2	1	1	0	0	1	1	3	1	3	1	2	6	2	2	2	6	1	1			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr19:9005698G>A	ENST00000397910.4	-	46	39911	c.39708C>T	c.(39706-39708)gaC>gaT	p.D13236D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13238	SEA 8.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.D388D(1)|p.D13236D(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGCAGATGGCGTCCACTCTGG	0.572													13	25					0	0	1	0	0	A	9005698	G	A	9005698	2	1	169	1	0	0	0	0	0	0	0	1	10021	1136	40	1		1	MUC16	19	9005698	Silent	SNP	G	TCGA-HC-7213-01A-11D-2114-08	336950	9005698	50123285	52	7884											
ZNF585B	92285	broad.mit.edu	37	chr19	37677690	37677690	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgtggacttttgtgtgaacGctttgccacagtcagtgcat	7	14	12	8	1	1	1	1	1	0	0	1	2	1	2	1	1	3	2	1	1	1	3	rs147861258		TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr19:37677690G>A	ENST00000532828.2	-	5	1000	c.749C>T	c.(748-750)gCg>gTg	p.A250V	CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000531805.1_Missense_Mutation_p.A195V|ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000312908.5_5'UTR	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	250					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTGTGTGAACGCTTTGCCACA	0.428													12	139					0	0	1	0	0	A	37677690	G	A	37677690	3	1	169	1	0	0	0	0	1	0	0	0	18075	1087	38	1	1564	1	ZNF585B	19	37677690	Missense_Mutation	SNP	G	TCGA-HC-7213-01A-11D-2114-08	28671992	37677690	21451293	53	7885											
YIF1B	90522	broad.mit.edu	37	chr19	38806529	38806531	+	In_Frame_Del	DEL	GCC	GCC	-																															gcagccggggcgtccccgcaGccgccgccgccaagcctgcc																										TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr19:38806529_38806531delGCC	ENST00000337679.8	-	1	32_34	c.27_29delGGC	c.(25-30)gct>gc	p.AA9del	YIF1B_ENST00000591755.1_In_Frame_Del_p.AA9del|YIF1B_ENST00000339413.6_In_Frame_Del_p.AA9del|YIF1B_ENST00000592694.1_5'UTR	NM_001145463.1	NP_001138935.1	Q5BJH7	YIF1B_HUMAN	Yip1 interacting factor homolog B (S. cerevisiae)	9						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)	10	all_cancers(60;1.07e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CGTCCCCGCAGCCGCCGCCGCCA	0.788													2	4	---	---	---	---						-	38806531	GCC	-	38806529	7	5	169	1	0	1	0	1	0	0	0	0	17536	971	34	0	1045	0	YIF1B	19	38806529	In_Frame_Del	DEL	GCC	TCGA-HC-7213-01A-11D-2114-08	1128839	38806529	20322454	54	7886											
PSG4	5672	broad.mit.edu	37	chr19	43708257	43708257	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtagaggtatgtcatttGccctttgtaccaaatgtagc	10	14	10	7	0	1	1	1	0	0	1	1	1	1	1	2	2	3	4	2	2	5	6			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr19:43708257G>T	ENST00000405312.3	-	2	448	c.211C>A	c.(211-213)Caa>Aaa	p.Q71K	PSG4_ENST00000244295.9_Missense_Mutation_p.Q71K|PSG4_ENST00000433626.2_Missense_Mutation_p.Q71K	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	71	Ig-like V-type.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				TATGTCATTTGCCCTTTGTAC	0.418													73	144					2.23852e-25	2.77743e-25	1	1	0	T	43708257	G	T	43708257	3	4	169	1	0	0	0	0	1	0	0	0	12706	1328	46	4	1068	4	PSG4	19	43708257	Missense_Mutation	SNP	G	TCGA-HC-7213-01A-11D-2114-08	4901728	43708257	15420726	55	7887											
DIP2A	23181	broad.mit.edu	37	chr21	47971767	47971767	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctgacgtgctgcagtggCgtgcccacaccactcctgac	6	8	12	15	2	0	2	0	2	0	0	1	2	1	2	3	2	3	3	3	2	0	0			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chr21:47971767C>T	ENST00000318711.7	+	25	3166	c.2983C>T	c.(2983-2985)Cgt>Tgt	p.R995C	DIP2A_ENST00000427143.2_Missense_Mutation_p.R930C|DIP2A_ENST00000417564.2_Missense_Mutation_p.R994C|DIP2A_ENST00000400274.1_Missense_Mutation_p.R990C	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	994					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GCTGCAGTGGCGTGCCCACAC	0.662													5	25					0	0	1	0	0	T	47971767	C	T	47971767	3	4	169	1	0	0	0	0	1	0	0	0	4555	768	27	1	3160	1	DIP2A	21	47971767	Missense_Mutation	SNP	C	TCGA-HC-7213-01A-11D-2114-08		47971767	158128	56	7888											
MAGEB6	158809	broad.mit.edu	37	chrX	26212431	26212431	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcttcacccactggctcGcctgatgcaggtgtttcagg	6	10	13	12	1	2	1	2	1	0	0	3	2	2	2	2	4	2	4	2	4	0	2			TCGA-HC-7213-01A-11D-2114-08	TCGA-HC-7213-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	423b7b92-135d-40ff-9db4-37afd44f6094	89d60af8-dd60-4b74-88f5-779f6e026865	g.chrX:26212431G>T	ENST00000379034.1	+	2	617	c.468G>T	c.(466-468)tcG>tcT	p.S156S		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	156	Ser-rich.							p.S156S(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CCACTGGCTCGCCTGATGCAG	0.507													3	36					0.115264	0.120667	1	1	0	T	26212431	G	T	26212431	2	4	169	1	0	0	0	0	0	0	0	1	9229	1074	38	4		4	MAGEB6	23	26212431	Silent	SNP	G	TCGA-HC-7213-01A-11D-2114-08		26212431	129058129	57	7889											
ROR1	4919	broad.mit.edu	37	chr1	64515405	64515405	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaatgaataacatcaccaCgtctctgggccagacagcag	14	6	8	13	1	2	2	1	1	1	1	3	2	2	2	3	1	2	1	3	1	3	1			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr1:64515405C>T	ENST00000371079.1	+	3	581	c.206C>T	c.(205-207)aCg>aTg	p.T69M	ROR1_ENST00000482426.1_3'UTR|ROR1_ENST00000371080.1_Missense_Mutation_p.T69M	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	69	Ig-like C2-type.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	p.T69M(2)		breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						AACATCACCACGTCTCTGGGC	0.547													23	141					0	0	0.0918	0	0	T	64515405	C	T	64515405	3	4	170	1	0	0	0	0	1	0	0	0	13578	536	19	1	216	1	ROR1	1	64515405	Missense_Mutation	SNP	C	TCGA-HC-7230-01A-11D-2114-08		64515405	184735216	1	7890											
SGIP1	84251	broad.mit.edu	37	chr1	67147853	67147853	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctcgcaatgtactatcGccgctcaatttagaagaagt	11	11	7	12	3	1	2	1	0	0	2	4	2	2	2	3	0	1	3	3	0	7	4	rs139355833		TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr1:67147853G>A	ENST00000371037.4	+	15	1193	c.1116G>A	c.(1114-1116)tcG>tcA	p.S372S	SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000237247.6_Silent_p.S376S	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	372	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						ATGTACTATCGCCGCTCAATT	0.542													4	147					0	0	0.014758	0	0	A	67147853	G	A	67147853	2	1	170	1	0	0	0	0	0	0	0	1	14260	1074	38	1		1	SGIP1	1	67147853	Silent	SNP	G	TCGA-HC-7230-01A-11D-2114-08	2632448	67147853	182102768	2	7891											
NTNG1	22854	broad.mit.edu	37	chr1	108023234	108023234	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttccccctcattctgcagcGaatgtctgcgacaacgagct	8	10	8	15	3	3	0	1	0	2	0	4	3	4	0	2	0	5	2	2	0	2	2			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr1:108023234G>A	ENST00000370067.1	+	7	1782	c.1153_splice	c.e7-1	p.A385_splice	NTNG1_ENST00000370068.1_Splice_Site_p.P464_splice|NTNG1_ENST00000370071.2_Splice_Site_p.A405_splice|NTNG1_ENST00000370073.2_Splice_Site_p.P464_splice|NTNG1_ENST00000370074.4_Splice_Site_p.T363_splice|NTNG1_ENST00000542803.1_Splice_Site_p.P464_splice|NTNG1_ENST00000370072.3_Splice_Site_p.A419_splice|NTNG1_ENST00000370061.3_Splice_Site_p.P430_splice|NTNG1_ENST00000370065.1_Splice_Site_p.A419_splice|NTNG1_ENST00000370070.2_Splice_Site_p.A385_splice|NTNG1_ENST00000370066.1_Splice_Site_p.A405_splice			Q9Y2I2	NTNG1_HUMAN	netrin G1	393	Laminin EGF-like 2.				axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		ATTCTGCAGCGAATGTCTGCG	0.572													10	34					0	0	0.069234	0	0	A	108023234	G	A	108023234	5	1	170	1	0	0	0	0	0	0	1	0	10752	1072	37	1	1552	1	NTNG1	1	108023234	Splice_Site	SNP	G	TCGA-HC-7230-01A-11D-2114-08	40875381	108023234	141227387	3	7892											
OR10K1	391109	broad.mit.edu	37	chr1	158435743	158435743	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccatctgtaacccactgcGctactcagtgctcatgggac	8	9	10	14	1	3	0	2	0	1	0	3	1	3	1	2	2	4	3	2	2	2	2			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr1:158435743G>A	ENST00000289451.2	+	1	472	c.392G>A	c.(391-393)cGc>cAc	p.R131H		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R131H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					AACCCACTGCGCTACTCAGTG	0.537													5	195					0	0	0.014758	0	0	A	158435743	G	A	158435743	3	1	170	1	0	0	0	0	1	0	0	0	10961	1087	38	1	394	1	OR10K1	1	158435743	Missense_Mutation	SNP	G	TCGA-HC-7230-01A-11D-2114-08	50412509	158435743	90814878	4	7893											
TUBA4A	7277	broad.mit.edu	37	chr2	220116307	220116307	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcttgcggatccgatccaGcactgggtcaatgatctcct	8	10	10	13	2	2	1	1	1	1	0	5	3	4	2	3	2	3	2	3	2	1	1			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr2:220116307G>A	ENST00000392088.2	-	3	865	c.310C>T	c.(310-312)Ctg>Ttg	p.L104L	TUBA4A_ENST00000248437.4_Silent_p.L119L|TUBA4A_ENST00000498660.1_5'UTR	NM_001278552.1	NP_001265481.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	119					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATCCGATCCAGCACTGGGTCA	0.502													3	109					0	0	0.014758	0	0	A	220116307	G	A	220116307	2	1	170	1	0	0	0	0	0	0	0	1	16811	962	34	2		2	TUBA4A	2	220116307	Silent	SNP	G	TCGA-HC-7230-01A-11D-2114-08		220116307	23083066	5	7894											
EFHD1	80303	broad.mit.edu	37	chr2	233546303	233546303	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atttctctgcaggtccaagcCttgtcatcggccagtaagtt	8	13	9	11	1	2	0	1	0	1	0	5	0	3	0	3	2	2	3	3	2	2	4			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr2:233546303C>T	ENST00000264059.3	+	4	1071	c.594C>T	c.(592-594)gcC>gcT	p.A198A	EFHD1_ENST00000410095.1_Silent_p.A86A|EFHD1_ENST00000409613.1_Silent_p.A102A|EFHD1_ENST00000409708.1_Silent_p.A86A	NM_025202.3	NP_079478.1	Q9BUP0	EFHD1_HUMAN	EF-hand domain family, member D1	198							calcium ion binding|protein binding			NS(1)|breast(1)|large_intestine(2)|lung(3)	7		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025)		Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101)		AGGTCCAAGCCTTGTCATCGG	0.572													79	130					0	0	0.139131	0	0	T	233546303	C	T	233546303	2	4	170	1	0	0	0	0	0	0	0	1	4974	668	24	2		2	EFHD1	2	233546303	Silent	SNP	C	TCGA-HC-7230-01A-11D-2114-08	13429996	233546303	9653070	6	7895											
GIGYF2	26058	broad.mit.edu	37	chr2	233620985	233620987	+	In_Frame_Del	DEL	GAG	GAG	-																															tgtcctgcgattgacaggacGaggaggaggaggaacagtgg																										TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr2:233620985_233620987delGAG	ENST00000373566.3	+	6	517_519	c.320_322delGAG	c.(319-324)cga>c	p.RG107del	GIGYF2_ENST00000409451.3_In_Frame_Del_p.RG107del|GIGYF2_ENST00000409196.3_In_Frame_Del_p.RG107del|GIGYF2_ENST00000373563.4_In_Frame_Del_p.RG107del|GIGYF2_ENST00000409480.1_In_Frame_Del_p.RG107del|GIGYF2_ENST00000409547.1_In_Frame_Del_p.RG107del			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	107	Poly-Gly.				cell death		protein binding	p.G108R(2)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TTGACAGGACGAGGAGGAGGAGG	0.424													7	118	---	---	---	---						-	233620987	GAG	-	233620985	7	5	170	1	0	1	0	1	0	0	0	0	6420	1058	37	0	334	0	GIGYF2	2	233620985	In_Frame_Del	DEL	GAG	TCGA-HC-7230-01A-11D-2114-08	74682	233620985	9578388	7	7896											
TRIM42	287015	broad.mit.edu	37	chr3	140406902	140406902	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgaggacggcatccagaccAcctacaggcctgacccacag	11	4	10	16	2	0	2	0	1	0	1	2	4	1	3	5	3	1	1	5	3	1	1			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr3:140406902A>G	ENST00000286349.3	+	3	1569	c.1378A>G	c.(1378-1380)Acc>Gcc	p.T460A		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	460	COS.					intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CATCCAGACCACCTACAGGCC	0.577													6	52					0	0	0.02938	0	0	G	140406902	A	G	140406902	3	3	170	1	0	0	0	0	1	0	0	0	16578	159	6	3	1388	3	TRIM42	3	140406902	Missense_Mutation	SNP	A	TCGA-HC-7230-01A-11D-2114-08		140406902	57615528	8	7897											
ATP11B	23200	broad.mit.edu	37	chr3	182602674	182602674	+	Frame_Shift_Del	DEL	T	T	-																															atagctacccttgtacagtaTtttttttataaggtgagttt																										TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr3:182602674delT	ENST00000323116.5	+	22	2903	c.2643delT	c.(2641-2643)tafs	p.Y881fs		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	881					aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.Y884fs*30(1)		breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			TTGTACAGTATTTTTTTTATA	0.269													7	83	---	---	---	---						-	182602674	T	-	182602674	7	5	170	1	0	1	0	1	0	0	0	0	1119	1500	52	0	2729	0	ATP11B	3	182602674	Frame_Shift_Del	DEL	T	TCGA-HC-7230-01A-11D-2114-08	42195772	182602674	15419756	9	7898											
MUC4	4585	broad.mit.edu	37	chr3	195512117	195512117	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcatcggtgtcatgaagagCggtggcgtgacctgtggata	9	9	16	7	3	1	3	1	2	0	1	2	4	1	4	1	4	2	1	1	4	2	1			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr3:195512117C>G	ENST00000463781.3	-	2	6793	c.6334G>C	c.(6334-6336)Gct>Cct	p.A2112P	MUC4_ENST00000475231.1_Missense_Mutation_p.A2112P|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	880	EGF-like 2.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TCATGAAGAGCGGTGGCGTGA	0.567													2	4					0	0	0.115264	0	0	G	195512117	C	G	195512117	3	3	170	1	0	0	0	0	1	0	0	0	10026	768	27	4		4	MUC4	3	195512117	Missense_Mutation	SNP	C	TCGA-HC-7230-01A-11D-2114-08	12909443	195512117	2510313	10	7899											
DLG1	1739	broad.mit.edu	37	chr3	196867046	196867046	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgggcggctgctccccctgtGataattttggtaatgaaaat	9	13	11	8	1	0	2	0	2	0	0	1	2	1	2	2	3	1	3	2	3	4	4			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr3:196867046G>C	ENST00000346964.2	-	9	966	c.777C>G	c.(775-777)atC>atG	p.I259M	DLG1_ENST00000314062.3_Missense_Mutation_p.I208M|DLG1_ENST00000419354.1_Missense_Mutation_p.I259M|DLG1_ENST00000452595.1_Missense_Mutation_p.I143M|DLG1_ENST00000443183.1_Missense_Mutation_p.I143M|DLG1_ENST00000448528.2_Missense_Mutation_p.I259M|DLG1_ENST00000450955.1_Missense_Mutation_p.I226M|DLG1_ENST00000422288.1_Missense_Mutation_p.I208M|DLG1_ENST00000357674.4_Missense_Mutation_p.I226M|DLG1_ENST00000392382.2_Missense_Mutation_p.I226M	NM_004087.2	NP_004078.2	Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	259	PDZ 1.				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		CTCCCCCTGTGATAATTTTGG	0.443													3	148					0	0	0.115264	0	0	C	196867046	G	C	196867046	3	2	170	1	0	0	0	0	1	0	0	0	4582	1280	45	4	2113	4	DLG1	3	196867046	Missense_Mutation	SNP	G	TCGA-HC-7230-01A-11D-2114-08	1354929	196867046	1155384	11	7900											
TNPO1	3842	broad.mit.edu	37	chr5	72195834	72195834	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgattgcgttaccttagcAataacaattggtcgtcttgg	9	14	10	8	3	1	1	0	1	1	0	2	1	1	1	1	2	4	2	1	2	5	6			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr5:72195834A>G	ENST00000337273.5	+	21	2766	c.2338_splice	c.e21-1	p.A780_splice	TNPO1_ENST00000454282.1_Splice_Site_p.A730_splice|TNPO1_ENST00000523768.1_Splice_Site_p.A730_splice|TNPO1_ENST00000506351.2_Splice_Site_p.A772_splice	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	780					interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		TTACCTTAGCAATAACAATTG	0.398													41	69					0	0	0.11126	0	0	G	72195834	A	G	72195834	5	3	170	1	0	0	0	0	0	0	1	0	16395	144	5	3	2422	3	TNPO1	5	72195834	Splice_Site	SNP	A	TCGA-HC-7230-01A-11D-2114-08		72195834	108719426	12	7901											
DCP2	167227	broad.mit.edu	37	chr5	112343668	112343668	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggggaaatggcagaaaacagTatcaagattcacctaatcaa	18	7	9	7	0	3	2	3	0	0	2	3	3	3	3	1	3	1	2	1	3	7	3			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr5:112343668T>C	ENST00000389063.2	+	9	1174	c.976T>C	c.(976-978)Tat>Cat	p.Y326H	DCP2_ENST00000543319.1_Missense_Mutation_p.Y115H|DCP2_ENST00000515408.1_Intron	NM_152624.5	NP_689837.2	Q8IU60	DCP2_HUMAN	decapping mRNA 2	326					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex	exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|RNA binding			endometrium(3)|large_intestine(6)|lung(1)	10		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)		CAGAAAACAGTATCAAGATTC	0.343													28	41					0	0	0.144211	0	0	C	112343668	T	C	112343668	3	2	170	1	0	0	0	0	1	0	0	0	4323	1638	57	3	1010	3	DCP2	5	112343668	Missense_Mutation	SNP	T	TCGA-HC-7230-01A-11D-2114-08	40147834	112343668	68571592	13	7902											
CDC23	8697	broad.mit.edu	37	chr5	137524750	137524750	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagtgaagcaggtaggaaaaAgggagcaggcacctcggtgg	13	4	18	6	1	0	1	0	1	0	0	1	4	0	3	1	6	2	4	1	6	4	1			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr5:137524750A>G	ENST00000394886.2	-	16	1741	c.1711T>C	c.(1711-1713)Ttt>Ctt	p.F571L		NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	571					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GGTAGGAAAAAGGGAGCAGGC	0.532													3	89					0	0	0.150653	0	0	G	137524750	A	G	137524750	3	3	170	1	0	0	0	0	1	0	0	0	3083	72	3	3	86	3	CDC23	5	137524750	Missense_Mutation	SNP	A	TCGA-HC-7230-01A-11D-2114-08	25181082	137524750	43390510	14	7903											
PCDHB13	0	broad.mit.edu	37	chr5	140595972	140595972	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgtctggcaggaggctcAgggaccaatgagttcaagtt	9	10	15	7	0	3	1	2	1	1	0	3	3	3	3	1	4	0	4	1	4	2	2			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr5:140595972A>G	ENST00000341948.4	+	1	2464	c.2277A>G	c.(2275-2277)tcA>tcG	p.S759S		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		759					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGGAGGCTCAGGGACCAATG	0.552													3	127					0	0	0.150653	0	0	G	140595972	A	G	140595972	2	3	170	1	0	0	0	0	0	0	0	1	11585	175	7	3		3	PCDHB13	5	140595972	Silent	SNP	A	TCGA-HC-7230-01A-11D-2114-08	3071222	140595972	40319288	15	7904											
RASGEF1C	255426	broad.mit.edu	37	chr5	179564990	179564990	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttcgccatctgtgggctcGgtggggggtgggctgaggct	2	11	20	8	2	1	1	0	1	1	0	3	1	1	1	1	7	0	4	1	7	0	1			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr5:179564990G>A	ENST00000393371.2	-	1	359	c.63C>T	c.(61-63)acC>acT	p.T21T	RASGEF1C_ENST00000361132.4_Silent_p.T21T			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	21					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGTGGGCTCGGTGGGGGGTG	0.652													9	97					0	0	0.09319	0	0	A	179564990	G	A	179564990	2	1	170	1	0	0	0	0	0	0	0	1	13123	1103	39	1		1	RASGEF1C	5	179564990	Silent	SNP	G	TCGA-HC-7230-01A-11D-2114-08	38969018	179564990	1350270	16	7905											
LGSN	51557	broad.mit.edu	37	chr6	63995626	63995626	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctagaagagagttgaggtgGggtcaaaatttgactgctgt	11	12	14	4	0	2	4	1	2	1	2	2	5	2	4	0	3	1	2	0	3	4	3			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr6:63995626G>T	ENST00000370658.5	-	3	229	c.196C>A	c.(196-198)Cca>Aca	p.P66T	LGSN_ENST00000370657.4_Missense_Mutation_p.P66T	NM_001143940.1|NM_016571.2	NP_001137412.1|NP_057655.2	Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	66					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	AGTTGAGGTGGGGTCAAAATT	0.438													3	65					0.00024832	0.000255961	0.150653	1	0	T	63995626	G	T	63995626	3	4	170	1	0	0	0	0	1	0	0	0	8799	1232	43	4	1341	4	LGSN	6	63995626	Missense_Mutation	SNP	G	TCGA-HC-7230-01A-11D-2114-08		63995626	107119441	17	7906											
FNDC1	84624	broad.mit.edu	37	chr6	159636159	159636159	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttccactgacaagagatgaaCggacacacgaaattaaaaag	19	6	8	8	2	0	3	0	2	0	1	1	6	1	4	1	1	1	0	1	1	6	2			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr6:159636159C>T	ENST00000297267.9	+	5	843	c.643C>T	c.(643-645)Cgg>Tgg	p.R215W	FNDC1_ENST00000340366.6_Missense_Mutation_p.R215W	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	215	Fibronectin type-III 2.					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)		AAGAGATGAACGGACACACGA	0.443													4	108					0	0	0.150653	0	0	T	159636159	C	T	159636159	3	4	170	1	0	0	0	0	1	0	0	0	6001	527	19	1	661	1	FNDC1	6	159636159	Missense_Mutation	SNP	C	TCGA-HC-7230-01A-11D-2114-08	95640533	159636159	11478908	18	7907											
ANKIB1	54467	broad.mit.edu	37	chr7	92020490	92020490	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttactatagacagacctagAaatggtcactgaagaccttg	14	10	8	9	0	1	5	1	1	0	4	1	5	1	5	2	1	1	0	2	1	6	5			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr7:92020490A>G	ENST00000265742.3	+	16	2439	c.2063A>G	c.(2062-2064)gAa>gGa	p.E688G		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	688							protein binding|zinc ion binding			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACAGACCTAGAAATGGTCACT	0.428													14	87					0	0	0.160694	0	0	G	92020490	A	G	92020490	3	3	170	1	0	0	0	0	1	0	0	0	626	246	9	3	2121	3	ANKIB1	7	92020490	Missense_Mutation	SNP	A	TCGA-HC-7230-01A-11D-2114-08		92020490	67118173	19	7908											
MMP16	4325	broad.mit.edu	37	chr8	89058941	89058941	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctgaggagattcagggatcCctttccagactgtgattggc	8	11	12	10	0	1	4	1	2	0	2	3	6	3	5	3	3	0	0	3	3	0	3			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr8:89058941C>T	ENST00000286614.6	-	9	1726	c.1445G>A	c.(1444-1446)gGg>gAg	p.G482E		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	482	Hemopexin-like 3.				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						TTCAGGGATCCCTTTCCAGAC	0.373													7	75					0	0	0.058154	0	0	T	89058941	C	T	89058941	3	4	170	1	0	0	0	0	1	0	0	0	9703	623	22	2	386	2	MMP16	8	89058941	Missense_Mutation	SNP	C	TCGA-HC-7230-01A-11D-2114-08		89058941	57305081	20	7909											
PTEN	5728	broad.mit.edu	37	chr10	89692849	89692849	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtgaagatcttgaccaatgGctaagtgaagatgacaatca	15	10	10	6	0	2	6	1	4	1	2	2	6	2	6	1	1	0	1	1	1	5	2			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr10:89692849G>A	ENST00000371953.3	+	5	1690	c.333G>A	c.(331-333)tgG>tgA	p.W111*		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	111	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.?(5)|p.Y27fs*1(2)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TTGACCAATGGCTAAGTGAAG	0.393		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			19	86					0	0	0.055883	0	0	A	89692849	G	A	89692849	4	1	170	1	0	0	0	0	0	1	0	0	12787	1212	42	2	351	2	PTEN	10	89692849	Nonsense_Mutation	SNP	G	TCGA-HC-7230-01A-11D-2114-08		89692849	45841898	21	7910											
RAG1	5896	broad.mit.edu	37	chr11	36597480	36597480	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttgtgagttaattccttccGaggagaggcacgaggctctg	8	12	13	8	2	1	2	0	1	1	1	3	5	3	2	2	3	0	3	2	3	1	4	rs145772007	byFrequency	TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr11:36597480G>A	ENST00000299440.5	+	2	2738	c.2626G>A	c.(2626-2628)Gag>Aag	p.E876K		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	876					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				AATTCCTTCCGAGGAGAGGCA	0.483									Familial Hemophagocytic Lymphohistiocytosis				45	90					0	0	0.139131	0	0	A	36597480	G	A	36597480	3	1	170	1	0	0	0	0	1	0	0	0	13055	1059	37	1	2628	1	RAG1	11	36597480	Missense_Mutation	SNP	G	TCGA-HC-7230-01A-11D-2114-08		36597480	98409036	22	7911											
OR5L2	26338	broad.mit.edu	37	chr11	55594795	55594795	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcctgctgttccttctcaTctatggagtcacgttgttag	5	17	8	11	1	3	0	2	0	2	0	6	1	5	1	2	1	1	4	2	1	2	6			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr11:55594795T>C	ENST00000378397.1	+	1	101	c.101T>C	c.(100-102)aTc>aCc	p.I34T		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	34					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TTCCTTCTCATCTATGGAGTC	0.517										HNSCC(27;0.073)			37	291					0	0	0.09836	0	0	C	55594795	T	C	55594795	3	2	170	1	0	0	0	0	1	0	0	0	11218	1435	50	3	103	3	OR5L2	11	55594795	Missense_Mutation	SNP	T	TCGA-HC-7230-01A-11D-2114-08	18997315	55594795	79411721	23	7912											
RELA	5970	broad.mit.edu	37	chr11	65423213	65423213	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cacagcaatgcgtcgaggtgGaggccgggggtcggtgggtc	6	6	20	9	4	0	0	0	0	0	0	3	2	0	1	1	7	2	1	1	7	1	0			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr11:65423213G>A	ENST00000525693.1	-	10	1041	c.979C>T	c.(979-981)Cca>Tca	p.P327S	RELA_ENST00000406246.3_Missense_Mutation_p.P327S|RELA_ENST00000308639.9_Missense_Mutation_p.P324S			Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	327					anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						CGTCGAGGTGGAGGCCGGGGG	0.622													27	34					0	0	0.153744	0	0	A	65423213	G	A	65423213	3	1	170	1	0	0	0	0	1	0	0	0	13268	1174	41	2	684	2	RELA	11	65423213	Missense_Mutation	SNP	G	TCGA-HC-7230-01A-11D-2114-08	9828418	65423213	69583303	24	7913											
SCN3B	55800	broad.mit.edu	37	chr11	123516294	123516294	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagtcagcagtctaacataCaaggaaatctttaccgccct	14	9	7	11	1	3	1	1	0	2	1	3	2	3	2	2	1	4	1	2	1	5	4			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr11:123516294C>T	ENST00000392770.2	-	2	1022		c.e2+1		SCN3B_ENST00000530277.1_Splice_Site|SCN3B_ENST00000299333.3_Splice_Site	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit						axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)		GTCTAACATACAAGGAAATCT	0.572													48	89					0	0	0.139131	0	0	T	123516294	C	T	123516294	5	4	170	1	0	0	0	0	0	0	1	0	13973	492	17	2	443	2	SCN3B	11	123516294	Splice_Site	SNP	C	TCGA-HC-7230-01A-11D-2114-08	58093081	123516294	11490222	25	7914											
KRT6A	3853	broad.mit.edu	37	chr12	52881722	52881722	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgccatagccactggagaCggtggactgcaccacagctg	10	5	12	14	2	0	1	0	0	0	1	0	3	0	2	4	3	3	2	4	3	1	1			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr12:52881722C>T	ENST00000330722.6	-	9	1545	c.1477G>A	c.(1477-1479)Gtc>Atc	p.V493I		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	493	Tail.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		CCACTGGAGACGGTGGACTGC	0.612													24	12					0	0	0.076483	0	0	T	52881722	C	T	52881722	3	4	170	1	0	0	0	0	1	0	0	0	8523	536	19	1	221	1	KRT6A	12	52881722	Missense_Mutation	SNP	C	TCGA-HC-7230-01A-11D-2114-08		52881722	80970173	26	7915											
ZFYVE1	53349	broad.mit.edu	37	chr14	73459968	73459968	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgggagggttgtaagtcctCgttcccttgtagtgaatgga	7	13	15	6	1	0	1	0	1	0	0	3	3	2	3	2	3	0	4	2	3	3	5			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr14:73459968C>T	ENST00000556143.1	-	4	1806	c.1086G>A	c.(1084-1086)acG>acA	p.T362T	ZFYVE1_ENST00000553891.1_Silent_p.T362T|ZFYVE1_ENST00000318876.5_Silent_p.T362T	NM_021260.2	NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	362						endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		TGTAAGTCCTCGTTCCCTTGT	0.562													43	61					0	0	0.139131	0	0	T	73459968	C	T	73459968	2	4	170	1	0	0	0	0	0	0	0	1	17721	871	31	1		1	ZFYVE1	14	73459968	Silent	SNP	C	TCGA-HC-7230-01A-11D-2114-08		73459968	33889572	27	7916											
ADAMTS18	170692	broad.mit.edu	37	chr16	77327095	77327095	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctctcggggagggtttctgCggcagagcccttgcagagga	6	8	17	10	2	2	2	0	0	2	2	3	4	2	4	1	5	3	4	1	5	0	2			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr16:77327095C>T	ENST00000282849.5	-	20	3485	c.3067G>A	c.(3067-3069)Gca>Aca	p.A1023T		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	1023	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						AGGGTTTCTGCGGCAGAGCCC	0.562													4	144					0	0	0.150653	0	0	T	77327095	C	T	77327095	3	4	170	1	0	0	0	0	1	0	0	0	262	768	27	1	614	1	ADAMTS18	16	77327095	Missense_Mutation	SNP	C	TCGA-HC-7230-01A-11D-2114-08		77327095	13027658	28	7917											
TP53	7157	broad.mit.edu	37	chr17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggtgaggatgggcctcCggttcatgccgcccatgcag	6	9	15	11	2	1	2	1	2	0	0	2	3	2	3	4	4	2	2	4	4	0	1	rs11540652		TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr17:7577538C>T	ENST00000420246.2	-	7	875	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)		GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)			28	21					0	0	0.153744	0	0	T	7577538	C	T	7577538	3	4	170	1	0	0	0	0	1	0	0	0	16442	652	23	1	547	1	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-HC-7230-01A-11D-2114-08		7577538	73617672	29	7918											
CAPNS1	826	broad.mit.edu	37	chr19	36636739	36636739	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcaagctgggctttgaggAattcaagtacttgtggaaca	12	10	13	6	0	1	1	1	1	0	0	1	3	1	3	0	4	3	4	0	4	5	4			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr19:36636739A>C	ENST00000246533.3	+	7	1086	c.488A>C	c.(487-489)gAa>gCa	p.E163A	CAPNS1_ENST00000588815.1_Missense_Mutation_p.E163A|CAPNS1_ENST00000587718.1_Missense_Mutation_p.E163A|CAPNS1_ENST00000589146.1_Intron|CAPNS1_ENST00000590874.1_Missense_Mutation_p.E133A|AD001527.7_ENST00000604228.1_RNA|CAPNS1_ENST00000588780.1_Missense_Mutation_p.E173A	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	calpain, small subunit 1	163	EF-hand 2.				positive regulation of cell proliferation	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GGCTTTGAGGAATTCAAGTAC	0.532													38	69					0	0	0.117977	0	0	C	36636739	A	C	36636739	3	2	170	1	0	0	0	0	1	0	0	0	2651	246	9	5	510	5	CAPNS1	19	36636739	Missense_Mutation	SNP	A	TCGA-HC-7230-01A-11D-2114-08		36636739	22492244	30	7919											
NUMBL	9253	broad.mit.edu	37	chr19	41174032	41174032	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcacggagggctcaccccAggcagaagtccctggagaga	10	3	16	12	1	1	2	1	0	0	2	2	5	2	4	3	5	0	3	3	5	1	0			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr19:41174032A>G	ENST00000252891.4	-	10	1338	c.1171T>C	c.(1171-1173)Tgg>Cgg	p.W391R	NUMBL_ENST00000540131.1_Missense_Mutation_p.W350R|NUMBL_ENST00000598779.1_Missense_Mutation_p.W350R	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	391					cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			GGCTCACCCCAGGCAGAAGTC	0.652													2	12					0	0	0.115264	0	0	G	41174032	A	G	41174032	3	3	170	1	0	0	0	0	1	0	0	0	10800	188	7	3	662	3	NUMBL	19	41174032	Missense_Mutation	SNP	A	TCGA-HC-7230-01A-11D-2114-08	4537293	41174032	17954951	31	7920											
CD3EAP	10849	broad.mit.edu	37	chr19	45911967	45911967	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctgggagtgctgttcccGtccaccaccaagaagaggaa	10	7	11	13	1	1	2	0	0	1	2	3	4	3	4	5	2	1	2	5	2	3	1			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr19:45911967G>A	ENST00000309424.3	+	3	1229	c.741G>A	c.(739-741)ccG>ccA	p.P247P	CD3EAP_ENST00000589804.1_Silent_p.P249P|ERCC1_ENST00000423698.2_3'UTR|ERCC1_ENST00000300853.3_3'UTR	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	247					rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		TGCTGTTCCCGTCCACCACCA	0.522													47	67					0	0	0.139131	0	0	A	45911967	G	A	45911967	2	1	170	1	0	0	0	0	0	0	0	1	3034	1132	40	1		1	CD3EAP	19	45911967	Silent	SNP	G	TCGA-HC-7230-01A-11D-2114-08	4737935	45911967	13217016	32	7921											
FPR2	2358	broad.mit.edu	37	chr19	52272719	52272719	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgggcaccgtctggctcaaaGagatgttgttctatggcaag	9	11	13	8	1	3	1	1	0	2	1	3	2	3	1	1	3	0	5	1	3	3	3			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr19:52272719G>A	ENST00000598776.1	+	2	1580	c.808G>A	c.(808-810)Gag>Aag	p.E270K	FPR2_ENST00000598953.1_Missense_Mutation_p.E270K|FPR2_ENST00000340023.6_Missense_Mutation_p.E270K	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	270					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						CTGGCTCAAAGAGATGTTGTT	0.512													20	32					0	0	0.049695	0	0	A	52272719	G	A	52272719	3	1	170	1	0	0	0	0	1	0	0	0	6073	943	33	2	810	2	FPR2	19	52272719	Missense_Mutation	SNP	G	TCGA-HC-7230-01A-11D-2114-08	6360752	52272719	6856264	33	7922											
ZNF611	81856	broad.mit.edu	37	chr19	53209167	53209167	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtctcaatggttgatttccGactgaaaactttgtcacatt	10	16	7	8	1	2	2	2	2	1	0	4	3	3	2	1	1	1	1	1	1	3	4	rs148756171		TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr19:53209167G>A	ENST00000543227.1	-	6	1415	c.1141C>T	c.(1141-1143)Cgg>Tgg	p.R381W	ZNF611_ENST00000602162.1_Missense_Mutation_p.R312W|ZNF611_ENST00000453741.2_Missense_Mutation_p.R312W|ZNF611_ENST00000540744.1_Missense_Mutation_p.R381W|ZNF611_ENST00000319783.1_Missense_Mutation_p.R381W|ZNF611_ENST00000595798.1_Missense_Mutation_p.R312W	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN	zinc finger protein 611	381					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		GTTGATTTCCGACTGAAAACT	0.383													6	87					0	0	0.021553	0	0	A	53209167	G	A	53209167	3	1	170	1	0	0	0	0	1	0	0	0	18094	1057	37	1	980	1	ZNF611	19	53209167	Missense_Mutation	SNP	G	TCGA-HC-7230-01A-11D-2114-08	936448	53209167	5919816	34	7923											
TMEM189	387521	broad.mit.edu	37	chr20	48713342	48713342	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttccaacagtcggaaattgCgagggacttttactcctaaa	12	11	8	10	2	0	0	0	0	0	0	3	3	2	2	2	2	3	0	2	2	5	5	rs143006544		TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr20:48713342C>A	ENST00000557021.1	-	6	867	c.707G>T	c.(706-708)cGc>cTc	p.R236L	TMEM189-UBE2V1_ENST00000341698.2_Missense_Mutation_p.R236L|UBE2V1_ENST00000371674.3_Missense_Mutation_p.R13L|UBE2V1_ENST00000371657.5_Missense_Mutation_p.R13L|UBE2V1_ENST00000371677.3_Missense_Mutation_p.R36L|UBE2V1_ENST00000415862.2_Intron|UBE2V1_ENST00000340309.3_Missense_Mutation_p.R36L|UBE2V1_ENST00000420027.2_Intron|UBE2V1_ENST00000396059.3_Intron	NM_199203.2	NP_954673.1			transmembrane protein 189											breast(1)|endometrium(2)|large_intestine(3)|lung(2)	8			BRCA - Breast invasive adenocarcinoma(9;3.02e-07)			TCGGAAATTGCGAGGGACTTT	0.448													4	104					0.150653	0.152936	0.150653	1	0	A	48713342	C	A	48713342	3	1	170	1	0	0	0	0	1	0	0	0	16171	768	27	4		4	TMEM189	20	48713342	Missense_Mutation	SNP	C	TCGA-HC-7230-01A-11D-2114-08		48713342	14312178	35	7924											
CYYR1	116159	broad.mit.edu	37	chr21	27840931	27840931	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtattccatctcgtggtcGtgaccgtagggtggtggtcc	5	12	14	10	3	1	1	0	1	1	0	5	1	3	1	3	4	0	2	3	4	2	3			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr21:27840931G>A	ENST00000299340.4	-	4	697	c.354C>T	c.(352-354)caC>caT	p.H118H	AP001596.6_ENST00000444306.1_RNA|AP001596.6_ENST00000421771.1_RNA|AP001597.1_ENST00000414486.1_RNA|AP001597.1_ENST00000357401.3_RNA|CYYR1_ENST00000435845.2_3'UTR|AP001596.6_ENST00000429340.1_RNA	NM_052954.2	NP_443186.1	Q96J86	CYYR1_HUMAN	cysteine/tyrosine-rich 1	118						integral to membrane		p.H118H(1)		large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						TCTCGTGGTCGTGACCGTAGG	0.527													45	67					0	0	0.139131	0	0	A	27840931	G	A	27840931	2	1	170	1	0	0	0	0	0	0	0	1	4234	1136	40	1		1	CYYR1	21	27840931	Silent	SNP	G	TCGA-HC-7230-01A-11D-2114-08		27840931	20288964	36	7925											
SLC37A1	54020	broad.mit.edu	37	chr21	43967227	43967227	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcagatccgaacgacgtcAggtgctcctccaccctggtg	7	10	10	14	3	2	1	2	0	0	1	5	3	5	1	4	2	2	1	4	2	1	1			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chr21:43967227A>C	ENST00000352133.2	+	9	1727	c.745A>C	c.(745-747)Agg>Cgg	p.R249R	SLC37A1_ENST00000398341.3_Silent_p.R249R			P57057	GLPT_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 1	249					carbohydrate transport|transmembrane transport	integral to membrane				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						GAACGACGTCAGGTGCTCCTC	0.552													27	118					0	0	0.153744	0	0	C	43967227	A	C	43967227	2	2	170	1	0	0	0	0	0	0	0	1	14652	179	7	5		5	SLC37A1	21	43967227	Silent	SNP	A	TCGA-HC-7230-01A-11D-2114-08	16126296	43967227	4162668	37	7926											
TLR7	51284	broad.mit.edu	37	chrX	12904067	12904067	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagataccgcagggcctccCgcctagcttacagcttctca	9	8	9	15	2	1	1	1	0	1	1	3	2	2	1	4	1	4	3	4	1	3	4			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chrX:12904067C>T	ENST00000380659.3	+	3	579	c.440C>T	c.(439-441)cCg>cTg	p.P147L		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	147					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	CAGGGCCTCCCGCCTAGCTTA	0.458													39	12					0	0	0.092188	0	0	T	12904067	C	T	12904067	3	4	170	1	0	0	0	0	1	0	0	0	16016	652	23	1	446	1	TLR7	23	12904067	Missense_Mutation	SNP	C	TCGA-HC-7230-01A-11D-2114-08		12904067	142366493	38	7927											
PHKA1	5255	broad.mit.edu	37	chrX	71840634	71840634	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaagtcgcaggttgtttgcAcagcagcttggaaccgatct	9	12	11	9	2	1	0	0	0	1	0	2	2	1	1	1	2	4	6	1	2	2	4			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chrX:71840634A>T	ENST00000339490.3	-	19	2378	c.2078T>A	c.(2077-2079)gTg>gAg	p.V693E	PHKA1_ENST00000373542.4_Missense_Mutation_p.V693E|PHKA1_ENST00000373545.3_Intron|PHKA1_ENST00000541944.1_Intron|PHKA1_ENST00000373539.3_Missense_Mutation_p.V693E	NM_001122670.1	NP_001116142.1	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	693					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					GGTTGTTTGCACAGCAGCTTG	0.517													4	45					0	0	0.02938	0	0	T	71840634	A	T	71840634	3	4	170	1	0	0	0	0	1	0	0	0	11891	159	6	5	1649	5	PHKA1	23	71840634	Missense_Mutation	SNP	A	TCGA-HC-7230-01A-11D-2114-08	58936567	71840634	83429926	39	7928											
GPR50	9248	broad.mit.edu	37	chrX	150348881	150348881	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcaagatccccaactggcttTatcttgcagcctacttcata	10	12	6	13	0	2	1	1	0	1	1	3	1	3	1	3	1	4	3	3	1	5	6			TCGA-HC-7230-01A-11D-2114-08	TCGA-HC-7230-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8733559-f04a-4325-b92b-4508013a853b	3c4dfdcc-2193-4780-bd67-716947ce87f2	g.chrX:150348881T>C	ENST00000218316.3	+	2	895	c.826T>C	c.(826-828)Tat>Cat	p.Y276H		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	276					cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CAACTGGCTTTATCTTGCAGC	0.512													4	83					0	0	0.150653	0	0	C	150348881	T	C	150348881	3	2	170	1	0	0	0	0	1	0	0	0	6737	1754	61	3	832	3	GPR50	23	150348881	Missense_Mutation	SNP	T	TCGA-HC-7230-01A-11D-2114-08	78508247	150348881	4921679	40	7929											
CASZ1	54897	broad.mit.edu	37	chr1	10706334	10706334	+	Frame_Shift_Del	DEL	G	G	-																															gcagttcccaaagagacagtGgaagtggaacttgttggcgt																										TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr1:10706334delG	ENST00000377022.3	-	17	3864	c.3547delC	c.(3547-3549)acfs	p.H1183fs	RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1183					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		AAGAGACAGTGGAAGTGGAAC	0.547													28	49	---	---	---	---						-	10706334	G	-	10706334	7	5	171	1	0	1	0	1	0	0	0	0	2703	1348	47	0	1752	0	CASZ1	1	10706334	Frame_Shift_Del	DEL	G	TCGA-HC-7231-01A-11D-2114-08		10706334	238544287	1	7930											
SETDB1	9869	broad.mit.edu	37	chr1	150923074	150923075	+	Frame_Shift_Ins	INS	-	-	A																															atggagaagcttttctacttINSacctcatgtctgcagctata																										TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr1:150923074_150923075insA	ENST00000271640.5	+	13	1911_1912	c.1721_1722insA	c.(1720-1722)tccfs	p.S574fs	SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368969.4_Frame_Shift_Ins_p.S574fs	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	574					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTTTTCTACTTACCTCATGTCT	0.579													43	114	---	---	---	---						A	150923075	-	A	150923074	7	5	171	1	0	1	1	0	0	0	0	0	14192	1764	61	0	1767	0	SETDB1	1	150923074	Frame_Shift_Ins	INS	-	TCGA-HC-7231-01A-11D-2114-08	140216740	150923074	98327547	2	7931											
OR6Y1	391112	broad.mit.edu	37	chr1	158517227	158517227	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggtggcaaggatagcagcGtaggatgccaccacaacaca	14	5	12	10	1	0	0	0	0	0	0	0	2	0	2	2	4	4	3	2	4	4	2			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr1:158517227G>A	ENST00000302617.3	-	1	668	c.669C>T	c.(667-669)taC>taT	p.Y223Y		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GGATAGCAGCGTAGGATGCCA	0.537													6	69					0	0	0.217242	0	0	A	158517227	G	A	158517227	2	1	171	1	0	0	0	0	0	0	0	1	11260	1140	40	1		1	OR6Y1	1	158517227	Silent	SNP	G	TCGA-HC-7231-01A-11D-2114-08	7594153	158517227	90733394	3	7932											
RNF181	51255	broad.mit.edu	37	chr2	85822908	85822908	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcgtcctatttcgatgaaCacgactgcgagccgtcggac	8	9	12	12	6	0	1	0	1	0	0	3	5	1	2	2	2	3	0	2	2	2	2			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr2:85822908C>T	ENST00000441634.1	+	1	61	c.22C>T	c.(22-24)Cac>Tac	p.H8Y	RNF181_ENST00000306368.4_Missense_Mutation_p.H8Y			Q9P0P0	RN181_HUMAN	ring finger protein 181	8							ligase activity|zinc ion binding			lung(1)|stomach(1)	2						TTTCGATGAACACGACTGCGA	0.632													3	32					0	0	0.150653	0	0	T	85822908	C	T	85822908	3	4	171	1	0	0	0	0	1	0	0	0	13517	478	17	2	24	2	RNF181	2	85822908	Missense_Mutation	SNP	C	TCGA-HC-7231-01A-11D-2114-08		85822908	157376465	4	7933											
C2orf57	165100	broad.mit.edu	37	chr2	232458456	232458456	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggactccagcctgtacaCggccagtgaggagaacagct	10	6	12	13	1	0	2	0	1	0	1	1	4	1	3	4	3	4	2	4	3	2	1			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr2:232458456C>T	ENST00000313965.2	+	1	882	c.794C>T	c.(793-795)aCg>aTg	p.T265M		NM_152614.2	NP_689827.2	Q53QW1	CB057_HUMAN	chromosome 2 open reading frame 57	265								p.T265M(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	19		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		AGCCTGTACACGGCCAGTGAG	0.657													4	104					0	0	0.184627	0	0	T	232458456	C	T	232458456	3	4	171	1	0	0	0	0	1	0	0	0	2192	536	19	1	796	1	C2orf57	2	232458456	Missense_Mutation	SNP	C	TCGA-HC-7231-01A-11D-2114-08	146635548	232458456	10740917	5	7934											
CHL1	10752	broad.mit.edu	37	chr3	432831	432831	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgagccttatatatttcaaaCaccagaaggaggtgagagga	15	9	11	6	0	1	3	1	2	0	2	1	6	1	5	2	3	2	0	2	3	5	4			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr3:432831C>T	ENST00000256509.2	+	22	3422	c.2780C>T	c.(2779-2781)aCa>aTa	p.T927I	CHL1_ENST00000397491.2_Missense_Mutation_p.T911I	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	911	Fibronectin type-III 4.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		ATATTTCAAACACCAGAAGGA	0.408													7	60					0	0	0.307466	0	0	T	432831	C	T	432831	3	4	171	1	0	0	0	0	1	0	0	0	3371	478	17	2	2858	2	CHL1	3	432831	Missense_Mutation	SNP	C	TCGA-HC-7231-01A-11D-2114-08		432831	197589599	6	7935											
C3orf62	375341	broad.mit.edu	37	chr3	49313859	49313859	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaccatcaaaattagaatcaCcttaaattttcttttctcca	15	15	1	10	0	4	1	2	0	2	1	5	1	4	1	3	0	1	0	3	0	7	6			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr3:49313859C>A	ENST00000343010.3	-	1	1483		c.e1+1			NM_198562.2	NP_940964.1	Q6ZUJ4	CC062_HUMAN	chromosome 3 open reading frame 62											breast(1)|kidney(1)|large_intestine(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		ATTAGAATCACCTTAAATTTT	0.383													5	64					0.014758	0.0160796	0.184627	1	0	A	49313859	C	A	49313859	5	1	171	1	0	0	0	0	0	0	1	0	2252	521	18	4	368	4	C3orf62	3	49313859	Splice_Site	SNP	C	TCGA-HC-7231-01A-11D-2114-08	48881028	49313859	148708571	7	7936											
VGLL3	389136	broad.mit.edu	37	chr3	87018023	87018023	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgtcatgcatatggctgtaGgatgggctcacctgagatgt	9	11	13	8	1	2	1	2	1	0	1	2	3	2	2	1	3	1	4	1	3	2	2			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr3:87018023G>A	ENST00000398399.2	-	3	1017	c.654C>T	c.(652-654)tcC>tcT	p.S218S	VGLL3_ENST00000383698.3_Silent_p.S218S	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN	vestigial like 3 (Drosophila)	218					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		TATGGCTGTAGGATGGGCTCA	0.607													34	95					0	0	0.840704	0	0	A	87018023	G	A	87018023	2	1	171	1	0	0	0	0	0	0	0	1	17220	987	35	2		2	VGLL3	3	87018023	Silent	SNP	G	TCGA-HC-7231-01A-11D-2114-08	37704164	87018023	111004407	8	7937											
IMPG2	50939	broad.mit.edu	37	chr3	100964785	100964785	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaagagctgaggcccatcttCgagggaaaggctaatttgtg	11	9	14	7	1	1	2	0	1	1	1	2	5	1	3	1	3	1	2	1	3	3	3			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr3:100964785C>T	ENST00000193391.7	-	12	1591	c.1404G>A	c.(1402-1404)tcG>tcA	p.S468S		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	468					visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GGCCCATCTTCGAGGGAAAGG	0.517													9	79					0	0	0.335167	0	0	T	100964785	C	T	100964785	2	4	171	1	0	0	0	0	0	0	0	1	7773	871	31	1		1	IMPG2	3	100964785	Silent	SNP	C	TCGA-HC-7231-01A-11D-2114-08	13946762	100964785	97057645	9	7938											
ZBTB11	27107	broad.mit.edu	37	chr3	101383903	101383903	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccccttcattaacagaacGttgtcgaagcctgcttctat	9	13	7	12	2	2	1	1	0	1	1	3	2	2	1	3	0	5	2	3	0	4	5			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr3:101383903G>A	ENST00000312938.4	-	4	2108	c.1528C>T	c.(1528-1530)Cgt>Tgt	p.R510C		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	510					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TTAACAGAACGTTGTCGAAGC	0.428													9	119					0	0	0.38729	0	0	A	101383903	G	A	101383903	3	1	171	1	0	0	0	0	1	0	0	0	17583	1145	40	1	1665	1	ZBTB11	3	101383903	Missense_Mutation	SNP	G	TCGA-HC-7231-01A-11D-2114-08	419118	101383903	96638527	10	7939											
IQCB1	9657	broad.mit.edu	37	chr3	121500652	121500652	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aactcggcgtgcatcagtgaGttcttggagtcctcgccaag	8	10	12	11	3	2	1	1	1	1	0	5	2	3	2	2	2	2	2	2	2	2	2			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr3:121500652G>C	ENST00000310864.6	-	13	1562	c.1348C>G	c.(1348-1350)Ctc>Gtc	p.L450V	IQCB1_ENST00000349820.6_Missense_Mutation_p.L317V	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	450					cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		GCATCAGTGAGTTCTTGGAGT	0.403													3	67					0	0	0.150653	0	0	C	121500652	G	C	121500652	3	2	171	1	0	0	0	0	1	0	0	0	7847	1029	36	4	460	4	IQCB1	3	121500652	Missense_Mutation	SNP	G	TCGA-HC-7231-01A-11D-2114-08	20116749	121500652	76521778	11	7940											
FAM194A	131831	broad.mit.edu	37	chr3	150421360	150421360	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgctctggctgggcacgaacGtagaggtcaggctagggctg	7	7	17	10	3	2	1	1	0	1	1	2	2	2	1	0	5	1	6	0	5	3	2			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr3:150421360G>A	ENST00000295910.6	-	1	378	c.326C>T	c.(325-327)aCg>aTg	p.T109M	RP11-103G8.2_ENST00000471093.1_RNA|FAM194A_ENST00000491361.1_Intron	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN	family with sequence similarity 194, member A	109										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GGGCACGAACGTAGAGGTCAG	0.637													3	46					0	0	0.150653	0	0	A	150421360	G	A	150421360	3	1	171	1	0	0	0	0	1	0	0	0	5558	1145	40	1	1721	1	FAM194A	3	150421360	Missense_Mutation	SNP	G	TCGA-HC-7231-01A-11D-2114-08	28920708	150421360	47601070	12	7941											
WDR49	151790	broad.mit.edu	37	chr3	167319938	167319938	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atccttggagaagctgaaaaGttgttttctttccacaaaga	13	13	8	7	0	1	3	0	1	1	2	3	4	3	3	2	1	1	3	2	1	4	5			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr3:167319938G>T	ENST00000308378.3	-	3	534	c.229C>A	c.(229-231)Ctt>Att	p.L77I	WDR49_ENST00000453925.2_Missense_Mutation_p.L130I|WDR49_ENST00000479765.1_Missense_Mutation_p.L418I	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	77										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						AAGCTGAAAAGTTGTTTTCTT	0.408													26	83					5.60225e-13	7.05111e-13	0.740014	1	0	T	167319938	G	T	167319938	3	4	171	1	0	0	0	0	1	0	0	0	17362	1029	36	4	1916	4	WDR49	3	167319938	Missense_Mutation	SNP	G	TCGA-HC-7231-01A-11D-2114-08	16898578	167319938	30702492	13	7942											
PIK3CA	5290	broad.mit.edu	37	chr3	178936094	178936094	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctctctgaaatcactgagCaggagaaagattttctatgg	12	12	9	8	0	4	4	1	2	3	2	5	5	4	4	0	2	1	1	0	2	3	3	rs121913286		TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr3:178936094C>A	ENST00000263967.3	+	10	1793	c.1636C>A	c.(1636-1638)Cag>Aag	p.Q546K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	546	PI3K helical.		Q -> E (in cancer).|Q -> K (in cancer).|Q -> P (in cancer).|Q -> R (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.Q546K(89)|p.Q546E(12)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATCACTGAGCAGGAGAAAGA	0.358		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			4	62					0.0215528	0.0231375	0.217242	1	0	A	178936094	C	A	178936094	3	1	171	1	0	0	0	0	1	0	0	0	11961	711	25	4	1670	4	PIK3CA	3	178936094	Missense_Mutation	SNP	C	TCGA-HC-7231-01A-11D-2114-08	11616156	178936094	19086336	14	7943											
SHROOM3	57619	broad.mit.edu	37	chr4	77476913	77476913	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaccctcaggctggtagtgcGcaggtaggtggcagaccccc	7	6	15	13	1	1	1	1	0	0	1	1	2	1	1	3	5	1	5	3	5	2	2	rs149028713		TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr4:77476913G>A	ENST00000296043.6	+	2	1273	c.320G>A	c.(319-321)cGc>cAc	p.R107H		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	107	PDZ.				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CTGGTAGTGCGCAGGTAGGTG	0.587													4	40					0	0	0.150653	0	0	A	77476913	G	A	77476913	3	1	171	1	0	0	0	0	1	0	0	0	14350	1087	38	1	326	1	SHROOM3	4	77476913	Missense_Mutation	SNP	G	TCGA-HC-7231-01A-11D-2114-08		77476913	113677363	15	7944											
PCDHA11	0	broad.mit.edu	37	chr5	140250251	140250251	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggtgtacgcgctgcagccGttggaccacgaggagctgga	9	6	16	10	4	0	0	0	0	0	0	0	4	0	3	2	4	4	5	2	4	2	2			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr5:140250251G>A	ENST00000398640.2	+	1	1563	c.1563G>A	c.(1561-1563)ccG>ccA	p.P521P	PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTGCAGCCGTTGGACCACG	0.682													18	169					0	0	0.608945	0	0	A	140250251	G	A	140250251	2	1	171	1	0	0	0	0	0	0	0	1	11568	1132	40	1		1	PCDHA11	5	140250251	Silent	SNP	G	TCGA-HC-7231-01A-11D-2114-08		140250251	40665009	16	7945											
HK3	3101	broad.mit.edu	37	chr5	176316502	176316502	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgacgcagacgcggcccCggtcttcgtccagcactgcc	5	6	12	18	6	1	2	0	1	1	1	3	2	2	2	4	2	2	3	4	2	0	1			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr5:176316502C>T	ENST00000292432.5	-	8	885	c.794G>A	c.(793-795)cGg>cAg	p.R265Q		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	265	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GACGCGGCCCCGGTCTTCGTC	0.642													4	50					0	0	0.150653	0	0	T	176316502	C	T	176316502	3	4	171	1	0	0	0	0	1	0	0	0	7233	652	23	1	2025	1	HK3	5	176316502	Missense_Mutation	SNP	C	TCGA-HC-7231-01A-11D-2114-08	36066251	176316502	4598758	17	7946											
GRM4	2914	broad.mit.edu	37	chr6	34003799	34003799	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgatggccagctgtgaggcGgggctgatgaagcgtggggc	6	7	21	7	2	0	4	0	4	0	0	0	4	0	4	1	6	2	2	1	6	1	0			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr6:34003799G>A	ENST00000374181.3	-	8	2257	c.2088C>T	c.(2086-2088)ccC>ccT	p.P696P	GRM4_ENST00000455714.2_Silent_p.P556P|GRM4_ENST00000535756.1_Silent_p.P563P|GRM4_ENST00000374177.3_Silent_p.P580P|GRM4_ENST00000544773.1_Silent_p.P527P|GRM4_ENST00000538487.1_Silent_p.P696P|GRM4_ENST00000545715.1_Silent_p.P388P	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	696					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.A697fs*126(2)|p.A581fs*126(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	GCTGTGAGGCGGGGCTGATGA	0.617													6	133					0	0	0.217242	0	0	A	34003799	G	A	34003799	2	1	171	1	0	0	0	0	0	0	0	1	6840	1103	39	1		1	GRM4	6	34003799	Silent	SNP	G	TCGA-HC-7231-01A-11D-2114-08		34003799	137111268	18	7947											
SIM1	6492	broad.mit.edu	37	chr6	100841376	100841376	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctcttaccatggatcctgtgGactgaagcgatgtgaggcat	9	11	12	9	1	1	2	0	2	1	0	2	5	2	4	2	3	2	1	2	3	2	1			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr6:100841376G>T	ENST00000369208.3	-	11	2339	c.1557C>A	c.(1555-1557)gtC>gtA	p.V519V	SIM1_ENST00000262901.4_Silent_p.V519V			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	519	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GGATCCTGTGGACTGAAGCGA	0.552													10	94					4.36969e-10	5.31646e-10	0.435327	1	0	T	100841376	G	T	100841376	2	4	171	1	0	0	0	0	0	0	0	1	14378	1161	41	4		4	SIM1	6	100841376	Silent	SNP	G	TCGA-HC-7231-01A-11D-2114-08	66837577	100841376	70273691	19	7948											
NPVF	64111	broad.mit.edu	37	chr7	25264785	25264785	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcatctattttcttgaataGcagtctcctaaaatgtaagc	13	15	5	8	0	4	1	1	1	3	0	5	1	4	1	1	0	2	2	1	0	6	7			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr7:25264785G>A	ENST00000222674.2	-	3	593	c.547C>T	c.(547-549)Cta>Tta	p.L183L		NM_022150.3	NP_071433.3	Q9HCQ7	RFRP_HUMAN	neuropeptide VF precursor	183					neuropeptide signaling pathway	extracellular region|membrane	G-protein coupled receptor activity			cervix(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						TTCTTGAATAGCAGTCTCCTA	0.378													14	46					0	0	0.520397	0	0	A	25264785	G	A	25264785	2	1	171	1	0	0	0	0	0	0	0	1	10653	962	34	2		2	NPVF	7	25264785	Silent	SNP	G	TCGA-HC-7231-01A-11D-2114-08		25264785	133873878	20	7949											
CAMK2B	816	broad.mit.edu	37	chr7	44259781	44259781	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcggggccggccctgcccGtcaatgtactgcgtgagccg	4	7	16	14	5	1	1	1	1	0	0	1	1	1	1	4	3	5	1	4	3	2	1			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr7:44259781G>A	ENST00000395749.2	-	23	1957	c.1881C>T	c.(1879-1881)gaC>gaT	p.D627D	CAMK2B_ENST00000346990.4_Silent_p.D410D|CAMK2B_ENST00000502837.2_3'UTR|CAMK2B_ENST00000489429.1_5'UTR|CAMK2B_ENST00000457475.1_Silent_p.D479D|CAMK2B_ENST00000258682.6_Silent_p.D478D|CAMK2B_ENST00000440254.2_Silent_p.D503D|CAMK2B_ENST00000395747.2_Silent_p.D479D|CAMK2B_ENST00000358707.3_Silent_p.D464D|CAMK2B_ENST00000353625.4_Silent_p.D440D|CAMK2B_ENST00000350811.3_Silent_p.D503D|CAMK2B_ENST00000347193.4_Silent_p.D453D	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	627					interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						GGCCCTGCCCGTCAATGTACT	0.657													5	35					0	0	0.217242	0	0	A	44259781	G	A	44259781	2	1	171	1	0	0	0	0	0	0	0	1	2618	1136	40	1		1	CAMK2B	7	44259781	Silent	SNP	G	TCGA-HC-7231-01A-11D-2114-08	18994996	44259781	114878882	21	7950											
ANK1	286	broad.mit.edu	37	chr8	41552776	41552776	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttccacacggagccgttttCgctcctcagaaccacgagct	8	9	8	16	4	1	1	1	0	0	1	4	3	3	2	4	1	3	3	4	1	1	3			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr8:41552776C>T	ENST00000396942.1	-	27	3117	c.3034G>A	c.(3034-3036)Gaa>Aaa	p.E1012K	ANK1_ENST00000396945.1_Missense_Mutation_p.E1012K|ANK1_ENST00000289734.7_Missense_Mutation_p.E1012K|ANK1_ENST00000379758.2_Missense_Mutation_p.E1012K|ANK1_ENST00000347528.4_Missense_Mutation_p.E1012K|ANK1_ENST00000352337.4_Missense_Mutation_p.E1012K|ANK1_ENST00000265709.8_Missense_Mutation_p.E1053K			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1012	ZU5.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GAGCCGTTTTCGCTCCTCAGA	0.617													11	75					0	0	0.38729	0	0	T	41552776	C	T	41552776	3	4	171	1	0	0	0	0	1	0	0	0	616	893	31	1	3001	1	ANK1	8	41552776	Missense_Mutation	SNP	C	TCGA-HC-7231-01A-11D-2114-08		41552776	104811246	22	7951											
TMEM2	23670	broad.mit.edu	37	chr9	74349890	74349890	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccatctacaacctctacccGgaatcctgaaagagaaacgc	14	7	6	14	2	2	2	0	1	2	1	4	4	4	3	4	1	4	0	4	1	6	2	rs151327312		TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr9:74349890G>A	ENST00000377044.4	-	6	1764	c.1225C>T	c.(1225-1227)Cgg>Tgg	p.R409W	TMEM2_ENST00000377066.5_Intron	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	409						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		ACCTCTACCCGGAATCCTGAA	0.373													3	79					0	0	0.115264	0	0	A	74349890	G	A	74349890	3	1	171	1	0	0	0	0	1	0	0	0	16181	1115	39	1	3002	1	TMEM2	9	74349890	Missense_Mutation	SNP	G	TCGA-HC-7231-01A-11D-2114-08		74349890	66863541	23	7952											
DMBT1	1755	broad.mit.edu	37	chr10	124392786	124392786	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatcccgggaactatccaaaCaatgccaagtgtgtgtggga	12	9	11	9	1	0	0	0	0	0	0	2	2	2	2	3	2	3	0	3	2	6	2			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr10:124392786C>A	ENST00000368909.3	+	49	6196	c.6090C>A	c.(6088-6090)aaC>aaA	p.N2030K	DMBT1_ENST00000368956.2_Missense_Mutation_p.N1402K|DMBT1_ENST00000330163.4_Missense_Mutation_p.N1402K|DMBT1_ENST00000344338.3_Missense_Mutation_p.N2020K|DMBT1_ENST00000368955.3_Missense_Mutation_p.N2020K|DMBT1_ENST00000359586.6_Missense_Mutation_p.N750K|DMBT1_ENST00000338354.3_Missense_Mutation_p.N2030K	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2030	CUB 2.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				ACTATCCAAACAATGCCAAGT	0.498													6	113					0.000157383	0.000182365	0.27861	1	0	A	124392786	C	A	124392786	3	1	171	1	0	0	0	0	1	0	0	0	4605	477	17	4	6284	4	DMBT1	10	124392786	Missense_Mutation	SNP	C	TCGA-HC-7231-01A-11D-2114-08		124392786	11141961	24	7953											
STX3	6809	broad.mit.edu	37	chr11	59559664	59559664	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgagaacgcagcaaagggCgaatccagcggcagctcgaa	13	3	13	12	5	0	1	0	0	0	1	3	4	2	1	2	2	4	4	2	2	4	0			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr11:59559664C>A	ENST00000535361.1	+	6	989	c.442C>A	c.(442-444)Cga>Aga	p.R148R	STX3_ENST00000437946.2_Silent_p.R51R|STX3_ENST00000300150.7_Silent_p.R117R|STX3_ENST00000529177.1_Silent_p.R148R|STX3_ENST00000337979.4_Silent_p.R148R			Q13277	STX3_HUMAN	syntaxin 3	148					cellular response to oxidative stress|intracellular protein transport|neuron projection development|neurotransmitter transport	apical plasma membrane|azurophil granule|cell-cell junction|growth cone|integral to membrane|plasma membrane enriched fraction|SNARE complex|specific granule	arachidonic acid binding|SNAP receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1)	13						CAGCAAAGGGCGAATCCAGCG	0.512													3	52					0.00909568	0.0100604	0.150653	1	0	A	59559664	C	A	59559664	2	1	171	1	0	0	0	0	0	0	0	1	15402	760	27	4		4	STX3	11	59559664	Silent	SNP	C	TCGA-HC-7231-01A-11D-2114-08		59559664	75446852	25	7954											
P4HA3	283208	broad.mit.edu	37	chr11	74015374	74015374	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctccagtcagactgcaggCgtttgatgagagtaaatgca	11	10	11	9	1	1	3	1	2	0	2	3	4	3	3	2	1	2	4	2	1	2	2			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr11:74015374C>A	ENST00000331597.4	-	2	329	c.284G>T	c.(283-285)cGc>cTc	p.R95L	P4HA3_ENST00000427714.2_Missense_Mutation_p.R95L	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha polypeptide III	95						endoplasmic reticulum lumen	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					AGACTGCAGGCGTTTGATGAG	0.478													7	196					3.09899e-07	3.70862e-07	0.307466	1	0	A	74015374	C	A	74015374	3	1	171	1	0	0	0	0	1	0	0	0	11405	768	27	4	1398	4	P4HA3	11	74015374	Missense_Mutation	SNP	C	TCGA-HC-7231-01A-11D-2114-08	14455710	74015374	60991142	26	7955											
LRRC32	2615	broad.mit.edu	37	chr11	76371902	76371902	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcccgcaggtcaagccaggtGagctggaactcagcctgggg	8	6	15	12	1	2	1	2	1	0	0	3	2	3	2	3	5	4	2	3	5	2	0			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr11:76371902G>A	ENST00000407242.2	-	3	977	c.735C>T	c.(733-735)ctC>ctT	p.L245L	AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000260061.5_Silent_p.L245L|LRRC32_ENST00000404995.1_Silent_p.L245L|LRRC32_ENST00000464145.1_Intron	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	245						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						CAAGCCAGGTGAGCTGGAACT	0.612													34	49					0	0	0.827153	0	0	A	76371902	G	A	76371902	2	1	171	1	0	0	0	0	0	0	0	1	9032	1277	45	2		2	LRRC32	11	76371902	Silent	SNP	G	TCGA-HC-7231-01A-11D-2114-08	2356528	76371902	58634614	27	7956											
GRM5	2915	broad.mit.edu	37	chr11	88780467	88780467	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgagcatctgaaggcaCaaccctcatgaaatatttga	13	10	8	10	0	2	4	1	4	1	0	2	4	2	4	1	1	3	3	1	1	4	2			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr11:88780467C>A	ENST00000418177.2	-	2	941	c.574G>T	c.(574-576)Gtg>Ttg	p.V192L	GRM5_ENST00000305432.5_Missense_Mutation_p.V192L|GRM5_ENST00000393294.3_Missense_Mutation_p.V192L|GRM5_ENST00000393297.1_Missense_Mutation_p.V192L|GRM5_ENST00000305447.4_Missense_Mutation_p.V192L|GRM5_ENST00000455756.2_Missense_Mutation_p.V192L			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	192					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TCTGAAGGCACAACCCTCATG	0.463													12	93					4.3838e-07	5.16157e-07	0.435327	1	0	A	88780467	C	A	88780467	3	1	171	1	0	0	0	0	1	0	0	0	6841	478	17	4	3100	4	GRM5	11	88780467	Missense_Mutation	SNP	C	TCGA-HC-7231-01A-11D-2114-08	12408565	88780467	46226049	28	7957											
HSPA8	3312	broad.mit.edu	37	chr11	122928986	122928986	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttatcaagccagttgataaTttcattacacttgtccagaa	13	14	5	9	0	2	2	2	1	0	1	3	2	3	2	2	0	2	1	2	0	5	6			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr11:122928986T>C	ENST00000534624.1	-	8	2005	c.1729A>G	c.(1729-1731)Att>Gtt	p.I577V	HSPA8_ENST00000453788.2_Intron|HSPA8_ENST00000227378.3_Missense_Mutation_p.I577V|HSPA8_ENST00000526110.1_Missense_Mutation_p.I558V|HSPA8_ENST00000534319.1_Missense_Mutation_p.I341V|HSPA8_ENST00000533540.1_Missense_Mutation_p.I431V|HSPA8_ENST00000532636.1_Missense_Mutation_p.I577V	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	577					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CAGTTGATAATTTCATTACAC	0.393													24	50					0	0	0.681144	0	0	C	122928986	T	C	122928986	3	2	171	1	0	0	0	0	1	0	0	0	7459	1493	52	3	219	3	HSPA8	11	122928986	Missense_Mutation	SNP	T	TCGA-HC-7231-01A-11D-2114-08	34148519	122928986	12077530	29	7958											
DDN	23109	broad.mit.edu	37	chr12	49391665	49391665	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtagctttggcttggggatGgctgtcgctaccactgttca	5	14	13	9	1	1	0	1	0	0	0	2	1	1	1	1	4	2	6	1	4	2	5			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr12:49391665G>A	ENST00000421952.2	-	2	1015	c.994C>T	c.(994-996)Cat>Tat	p.H332Y		NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	332						dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						GCTTGGGGATGGCTGTCGCTA	0.662													33	118					0	0	0.859065	0	0	A	49391665	G	A	49391665	3	1	171	1	0	0	0	0	1	0	0	0	4356	1348	47	2	1145	2	DDN	12	49391665	Missense_Mutation	SNP	G	TCGA-HC-7231-01A-11D-2114-08		49391665	84460230	30	7959											
SLC16A7	9194	broad.mit.edu	37	chr12	60168467	60168467	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagccttcaacctgcaacccGccttaaccataattggcaaa	13	9	5	14	1	1	0	1	0	0	0	1	0	1	0	5	1	5	2	5	1	6	5			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr12:60168467G>A	ENST00000261187.4	+	4	555	c.391G>A	c.(391-393)Gcc>Acc	p.A131T	SLC16A7_ENST00000552024.1_Missense_Mutation_p.A131T|SLC16A7_ENST00000547379.1_Missense_Mutation_p.A131T|SLC16A7_ENST00000552432.1_Missense_Mutation_p.A131T|SLC16A7_ENST00000543448.1_Missense_Mutation_p.A32T	NM_001270622.1|NM_001270623.1|NM_004731.3	NP_001257551.1|NP_001257552.1|NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	131						integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	CCTGCAACCCGCCTTAACCAT	0.413													8	56					0	0	0.361761	0	0	A	60168467	G	A	60168467	3	1	171	1	0	0	0	0	1	0	0	0	14468	1087	38	1	401	1	SLC16A7	12	60168467	Missense_Mutation	SNP	G	TCGA-HC-7231-01A-11D-2114-08	10776802	60168467	73683428	31	7960											
E2F7	144455	broad.mit.edu	37	chr12	77419608	77419608	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagtagaagaaaccgggccCggcattgcaggagaatagag	15	4	15	7	2	0	5	0	0	0	5	0	6	0	5	2	3	2	3	2	3	5	3			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr12:77419608C>T	ENST00000322886.7	-	12	2530	c.2295G>A	c.(2293-2295)ccG>ccA	p.P765P	E2F7_ENST00000416496.2_Intron	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	765					cell cycle	transcription factor complex	DNA binding|identical protein binding			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						AAACCGGGCCCGGCATTGCAG	0.562													10	13					0	0	0.38729	0	0	T	77419608	C	T	77419608	2	4	171	1	0	0	0	0	0	0	0	1	4898	639	23	1		1	E2F7	12	77419608	Silent	SNP	C	TCGA-HC-7231-01A-11D-2114-08	17251141	77419608	56432287	32	7961											
TSC2	7249	broad.mit.edu	37	chr16	2126130	2126130	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgtggttcatcaggtgcCgcctgcccttccggaaggat	6	10	12	13	2	2	0	2	0	0	0	3	2	3	2	5	4	2	1	5	4	1	2			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr16:2126130C>T	ENST00000219476.3	+	24	3331	c.2701C>T	c.(2701-2703)Cgc>Tgc	p.R901C	TSC2_ENST00000568454.1_Missense_Mutation_p.R912C|TSC2_ENST00000353929.4_Missense_Mutation_p.R901C|TSC2_ENST00000350773.4_Missense_Mutation_p.R901C|TSC2_ENST00000382538.6_Missense_Mutation_p.R852C|TSC2_ENST00000439673.2_Missense_Mutation_p.R864C|TSC2_ENST00000401874.2_Missense_Mutation_p.R901C	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	901					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CATCAGGTGCCGCCTGCCCTT	0.567			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis				34	58					0	0	0.840704	0	0	T	2126130	C	T	2126130	3	4	171	1	0	0	0	0	1	0	0	0	16667	652	23	1	2791	1	TSC2	16	2126130	Missense_Mutation	SNP	C	TCGA-HC-7231-01A-11D-2114-08		2126130	88228623	33	7962											
AMDHD2	51005	broad.mit.edu	37	chr16	2579489	2579489	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcccagacttcgtggtgctCgacgactcccttcacgtcca	6	10	9	16	4	1	1	1	0	0	1	6	3	4	1	3	1	1	1	3	1	0	2			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr16:2579489C>T	ENST00000302956.4	+	10	1339	c.1245C>T	c.(1243-1245)ctC>ctT	p.L415L	AMDHD2_ENST00000413459.3_Silent_p.L415L|CEMP1_ENST00000382350.1_Intron|AMDHD2_ENST00000565570.1_Intron|AMDHD2_ENST00000293971.6_Silent_p.L385L			Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2	385					N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						TCGTGGTGCTCGACGACTCCC	0.657													59	122					0	0	0.870114	0	0	T	2579489	C	T	2579489	2	4	171	1	0	0	0	0	0	0	0	1	564	871	31	1		1	AMDHD2	16	2579489	Silent	SNP	C	TCGA-HC-7231-01A-11D-2114-08	453359	2579489	87775264	34	7963											
CPPED1	55313	broad.mit.edu	37	chr16	12798661	12798661	+	Nonsense_Mutation	SNP	G	G	A																															cagccactggtcctgagcctGcttcaggctggggcatttgg																										TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr16:12798661G>A	ENST00000381774.4	-	3	775	c.535C>T	c.(535-537)Cag>Tag	p.Q179*	CPPED1_ENST00000261660.4_Intron|CPPED1_ENST00000433677.2_Intron	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain containing 1	179							hydrolase activity|metal ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						TCCTGAGCCTGCTTCAGGCTG	0.612													21	55					0	0	0.624587	0	0	A	12798661	G	A	12798661	4	1	171	1	0	0	0	0	0	1	0	0	3845	1328	46	2	417	2	CPPED1	16	12798661	Nonsense_Mutation	SNP	G	TCGA-HC-7231-01A-11D-2114-08	10219172	12798661	77556092	35	7964	40	2									
CPPED1	55313	broad.mit.edu	37	chr16	12798662	12798662	+	Missense_Mutation	SNP	C	C	A																															agccactggtcctgagcctgCttcaggctggggcatttgga																										TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr16:12798662C>A	ENST00000381774.4	-	3	774	c.534G>T	c.(532-534)aaG>aaT	p.K178N	CPPED1_ENST00000261660.4_Intron|CPPED1_ENST00000433677.2_Intron	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain containing 1	178							hydrolase activity|metal ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						CCTGAGCCTGCTTCAGGCTGG	0.612													20	55					1.50039e-11	1.85642e-11	0.608945	1	0	A	12798662	C	A	12798662	3	1	171	1	0	0	0	0	1	0	0	0	3845	796	28	4	418	4	CPPED1	16	12798662	Missense_Mutation	SNP	C	TCGA-HC-7231-01A-11D-2114-08	1	12798662	77556091	36	7965	40	2									
EIF3CL	728689	broad.mit.edu	37	chr16	28403157	28403157	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggtgatctcagttcccttgGcaaacatttttggcttctcc	6	15	9	11	0	2	1	1	1	2	0	5	1	3	1	2	3	1	3	2	3	1	5			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr16:28403157G>C	ENST00000398943.3	-	10	1095	c.959C>G	c.(958-960)gCc>gGc	p.A320G	EIF3CL_ENST00000398944.3_Missense_Mutation_p.A320G|EIF3CL_ENST00000380876.4_Missense_Mutation_p.A320G					eukaryotic translation initiation factor 3, subunit C-like																		AGTTCCCTTGGCAAACATTTT	0.488													6	230					0	0	0.307466	0	0	C	28403157	G	C	28403157	3	2	171	1	0	0	0	0	1	0	0	0	5041	1203	42	4	1833	4	EIF3CL	16	28403157	Missense_Mutation	SNP	G	TCGA-HC-7231-01A-11D-2114-08	15604495	28403157	61951596	37	7966											
SULT1A1	6817	broad.mit.edu	37	chr16	28631396	28631396	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgtcttaccatataggtgttCcagaatttctgtttcaggtc	8	17	8	8	0	3	1	1	0	2	1	5	1	4	1	2	2	1	2	2	2	4	6			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr16:28631396C>T	ENST00000350842.4	-	2	514	c.126G>A	c.(124-126)tgG>tgA	p.W42*	SULT1A1_ENST00000395609.1_5'UTR	NM_177536.3	NP_803880.1	P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	0					3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						TATAGGTGTTCCAGAATTTCT	0.328													4	48					0	0	0.217242	0	0	T	28631396	C	T	28631396	4	4	171	1	0	0	0	0	0	1	0	0	15428	856	30	2	931	2	SULT1A1	16	28631396	Nonsense_Mutation	SNP	C	TCGA-HC-7231-01A-11D-2114-08	228239	28631396	61723357	38	7967											
FOXC2	2303	broad.mit.edu	37	chr16	86602380	86602380	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caatgccagctgccagctgcCctacagatccacgccgcctc	8	6	8	19	2	0	1	0	0	0	1	2	1	1	1	6	0	6	2	6	0	2	1			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr16:86602380C>G	ENST00000320354.4	+	1	1524	c.1439C>G	c.(1438-1440)cCc>cGc	p.P480R		NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	480					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						TGCCAGCTGCCCTACAGATCC	0.647									Late-onset Hereditary Lymphedema				3	82					0	0	0.150653	0	0	G	86602380	C	G	86602380	3	3	171	1	0	0	0	0	1	0	0	0	6028	623	22	4	1441	4	FOXC2	16	86602380	Missense_Mutation	SNP	C	TCGA-HC-7231-01A-11D-2114-08	57970984	86602380	3752373	39	7968											
MYH8	4626	broad.mit.edu	37	chr17	10296220	10296220	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcggcctcatctagacgatgCtgcaggtccttcaccgtctg	6	11	10	14	3	4	1	2	0	2	1	6	2	5	1	3	2	2	2	3	2	1	2			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr17:10296220C>T	ENST00000403437.2	-	37	5485	c.5391G>A	c.(5389-5391)caG>caA	p.Q1797Q	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1797					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CTAGACGATGCTGCAGGTCCT	0.577									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				8	131					0	0	0.307466	0	0	T	10296220	C	T	10296220	2	4	171	1	0	0	0	0	0	0	0	1	10089	796	28	2		2	MYH8	17	10296220	Silent	SNP	C	TCGA-HC-7231-01A-11D-2114-08		10296220	70898990	40	7969											
MYH4	4622	broad.mit.edu	37	chr17	10357986	10357986	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttctttggttttctcaaaTtcttccttcatgttggccat	5	21	5	10	0	5	0	2	0	4	0	7	0	6	0	2	2	0	2	2	2	1	8			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr17:10357986T>G	ENST00000255381.2	-	22	2687	c.2577A>C	c.(2575-2577)gaA>gaC	p.E859D	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	859					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTTTCTCAAATTCTTCCTTCA	0.433													4	102					0	0	0.217242	0	0	G	10357986	T	G	10357986	3	3	171	1	0	0	0	0	1	0	0	0	10085	1490	52	5	3318	5	MYH4	17	10357986	Missense_Mutation	SNP	T	TCGA-HC-7231-01A-11D-2114-08	61766	10357986	70837224	41	7970											
UNC45B	146862	broad.mit.edu	37	chr17	33495343	33495343	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctcaaacagatctacaagaCcaccaaaaatgagaagatca	20	5	6	10	0	3	4	2	1	1	4	3	5	3	4	2	0	2	1	2	0	6	1			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr17:33495343C>A	ENST00000268876.5	+	10	1512	c.1415C>A	c.(1414-1416)aCc>aAc	p.T472N	UNC45B_ENST00000591048.1_Missense_Mutation_p.T472N|UNC45B_ENST00000394570.2_Missense_Mutation_p.T472N|UNC45B_ENST00000433649.1_Missense_Mutation_p.T472N|UNC45B_ENST00000378449.1_Missense_Mutation_p.T472N	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	472					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				ATCTACAAGACCACCAAAAAT	0.567													5	68					0.00116845	0.00131225	0.217242	1	0	A	33495343	C	A	33495343	3	1	171	1	0	0	0	0	1	0	0	0	17049	507	18	4	1449	4	UNC45B	17	33495343	Missense_Mutation	SNP	C	TCGA-HC-7231-01A-11D-2114-08	23137357	33495343	47699867	42	7971											
HLF	3131	broad.mit.edu	37	chr17	53392674	53392674	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggttatgagccagacccaGcagatcttgccctttccagc	8	10	10	13	0	1	3	0	1	1	2	2	3	2	3	4	1	4	2	4	1	1	3			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr17:53392674G>C	ENST00000226067.5	+	3	1011	c.538G>C	c.(538-540)Gca>Cca	p.A180P	HLF_ENST00000575345.1_Missense_Mutation_p.A95P|HLF_ENST00000430986.2_Missense_Mutation_p.A95P|HLF_ENST00000573945.1_Missense_Mutation_p.A95P	NM_002126.4	NP_002117.1	Q16534	HLF_HUMAN	hepatic leukemia factor	180	Pro-rich (proline/acidic region (PAR)).				multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(2)	3						GCCAGACCCAGCAGATCTTGC	0.527			T	TCF3	ALL								27	78					0	0	0.740014	0	0	C	53392674	G	C	53392674	3	2	171	1	0	0	0	0	1	0	0	0	7255	971	34	4	548	4	HLF	17	53392674	Missense_Mutation	SNP	G	TCGA-HC-7231-01A-11D-2114-08	19897331	53392674	27802536	43	7972											
FOXK2	3607	broad.mit.edu	37	chr17	80521333	80521333	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgagtctccagtgaaggccGtacagccacacatctcgccc	9	7	9	16	2	2	2	0	2	2	0	4	2	2	2	4	1	2	1	4	1	2	1			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr17:80521333G>A	ENST00000335255.5	+	2	697	c.523G>A	c.(523-525)Gta>Ata	p.V175I		NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	175					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			AGTGAAGGCCGTACAGCCACA	0.582													19	47					0	0	0.608945	0	0	A	80521333	G	A	80521333	3	1	171	1	0	0	0	0	1	0	0	0	6049	1145	40	1	529	1	FOXK2	17	80521333	Missense_Mutation	SNP	G	TCGA-HC-7231-01A-11D-2114-08	27128659	80521333	673877	44	7973											
TCEB3B	51224	broad.mit.edu	37	chr18	44561616	44561616	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcttctccactgcgtgcagcGtagtggaccctgccgccatc	5	9	11	16	3	1	0	0	0	1	0	3	1	1	1	4	1	4	3	4	1	1	2			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr18:44561616G>T	ENST00000332567.4	-	1	372	c.20C>A	c.(19-21)aCg>aAg	p.T7K	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	7	TFIIS N-terminal.				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TGCGTGCAGCGTAGTGGACCC	0.612													5	60					0.00116845	0.00131225	0.217242	1	0	T	44561616	G	T	44561616	3	4	171	1	0	0	0	0	1	0	0	0	15742	1145	40	4	2245	4	TCEB3B	18	44561616	Missense_Mutation	SNP	G	TCGA-HC-7231-01A-11D-2114-08		44561616	33515632	45	7974											
NANOS3	342977	broad.mit.edu	37	chr19	13988559	13988561	+	In_Frame_Del	DEL	GAG	GAG	-																															acaggacacaggccaccgccGaggaggaggaggaggagcag																										TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr19:13988559_13988561delGAG	ENST00000397555.2	+	2	440_442	c.440_442delGAG	c.(439-444)cga>c	p.RG147del	NANOS3_ENST00000339133.5_In_Frame_Del_p.RG166del|NANOS3_ENST00000591161.1_5'UTR|NANOS3_ENST00000591727.1_Intron	NM_001098622.2	NP_001092092.1	P60323	NANO3_HUMAN	nanos homolog 3 (Drosophila)	147					anti-apoptosis|germ cell development|multicellular organismal development|oogenesis|regulation of cell cycle|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|nucleus|stress granule	RNA binding|zinc ion binding	p.G171delG(1)		breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	7			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GGCCACCGCCGAGGAGGAGGAGG	0.645													2	4	---	---	---	---						-	13988561	GAG	-	13988559	7	5	171	1	0	1	0	1	0	0	0	0	10201	1058	37	0	499	0	NANOS3	19	13988559	In_Frame_Del	DEL	GAG	TCGA-HC-7231-01A-11D-2114-08		13988559	45140424	46	7975											
NCAN	1463	broad.mit.edu	37	chr19	19337625	19337625	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgcagcaagttcacacaCggaggtggccccaactgacc	11	5	10	15	1	1	1	1	1	0	0	1	2	1	2	3	3	3	3	3	3	2	1			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr19:19337625C>T	ENST00000252575.5	+	7	1446	c.1403C>T	c.(1402-1404)aCg>aTg	p.T468M		NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	468					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			AGTTCACACACGGAGGTGGCC	0.642													10	30					0	0	0.38729	0	0	T	19337625	C	T	19337625	3	4	171	1	0	0	0	0	1	0	0	0	10251	536	19	1	1425	1	NCAN	19	19337625	Missense_Mutation	SNP	C	TCGA-HC-7231-01A-11D-2114-08	5349066	19337625	39791358	47	7976											
ZNF626	199777	broad.mit.edu	37	chr19	20807184	20807184	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctctccagtatgattctcTcatgtgtagtaaggattgag	9	16	9	7	0	3	2	1	2	2	0	6	3	4	3	1	1	0	3	1	1	3	6	rs71332197		TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr19:20807184T>C	ENST00000601440.1	-	4	1645	c.1499A>G	c.(1498-1500)gAg>gGg	p.E500G	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	500			E -> K (in dbSNP:rs10408597).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						TATGATTCTCTCATGTGTAGT	0.398													3	69					0	0	0.115264	0	0	C	20807184	T	C	20807184	3	2	171	1	0	0	0	0	1	0	0	0	18107	1551	54	3	91	3	ZNF626	19	20807184	Missense_Mutation	SNP	T	TCGA-HC-7231-01A-11D-2114-08	1469559	20807184	38321799	48	7977											
IRF2BP1	26145	broad.mit.edu	37	chr19	46388640	46388640	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggccaggcgggaccccagAgtgtactccagggcgggcga	7	5	17	12	3	0	1	0	0	0	1	1	3	1	2	4	5	1	1	4	5	1	2			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr19:46388640A>G	ENST00000302165.3	-	1	736	c.393T>C	c.(391-393)acT>acC	p.T131T		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	131					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		GGGACCCCAGAGTGTACTCCA	0.721													3	33					0	0	0.184627	0	0	G	46388640	A	G	46388640	2	3	171	1	0	0	0	0	0	0	0	1	7873	291	11	3		3	IRF2BP1	19	46388640	Silent	SNP	A	TCGA-HC-7231-01A-11D-2114-08	25581456	46388640	12740343	49	7978											
LAMA5	3911	broad.mit.edu	37	chr20	60884512	60884512	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgcagtaggcggggggccaGggctgcacggccatgggctc	5	4	19	13	3	0	0	0	0	0	0	1	0	0	0	3	7	1	5	3	7	1	1			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr20:60884512G>C	ENST00000252999.3	-	80	11034	c.10968C>G	c.(10966-10968)ccC>ccG	p.P3656P		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3656	Laminin G-like 5.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGGGGGGCCAGGGCTGCACGG	0.687													3	8					0	0	0.150653	0	0	C	60884512	G	C	60884512	2	2	171	1	0	0	0	0	0	0	0	1	8648	987	35	4		4	LAMA5	20	60884512	Silent	SNP	G	TCGA-HC-7231-01A-11D-2114-08		60884512	2141008	50	7979											
KRTAP12-1	353332	broad.mit.edu	37	chr21	46101933	46101933	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcttgaagctcacgggcaCgcacacggaggactggcagc	9	5	15	12	3	1	1	1	1	0	0	1	3	1	3	0	5	2	5	0	5	1	1	rs139816004	by1000genomes	TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr21:46101933C>T	ENST00000391617.1	-	1	145	c.106G>A	c.(106-108)Gtg>Atg	p.V36M	TSPEAR_ENST00000323084.4_Intron	NM_181686.1	NP_859014.1	P59990	KR121_HUMAN	keratin associated protein 12-1	36	14 X 5 AA approximate repeats.					keratin filament				kidney(1)|large_intestine(1)|lung(1)|skin(2)	5						CTCACGGGCACGCACACGGAG	0.687													5	119					0	0	0.184627	0	0	T	46101933	C	T	46101933	3	4	171	1	0	0	0	0	1	0	0	0	8561	536	19	1	188	1	KRTAP12-1	21	46101933	Missense_Mutation	SNP	C	TCGA-HC-7231-01A-11D-2114-08		46101933	2027962	51	7980											
FOXRED2	80020	broad.mit.edu	37	chr22	36897391	36897391	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccggcttcctttggattcGtagctagctcgaatcagcgg	6	11	11	13	4	1	0	1	0	0	0	4	2	2	1	3	3	3	4	3	3	3	5	rs144879175		TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chr22:36897391G>A	ENST00000397224.4	-	5	1206	c.1113C>T	c.(1111-1113)taC>taT	p.Y371Y	FOXRED2_ENST00000216187.6_Silent_p.Y371Y|FOXRED2_ENST00000397223.4_Silent_p.Y371Y	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	371					ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CTTTGGATTCGTAGCTAGCTC	0.527													17	39					0	0	0.575678	0	0	A	36897391	G	A	36897391	2	1	171	1	0	0	0	0	0	0	0	1	6068	1140	40	1		1	FOXRED2	22	36897391	Silent	SNP	G	TCGA-HC-7231-01A-11D-2114-08		36897391	14407175	52	7981											
PHF8	23133	broad.mit.edu	37	chrX	54029074	54029074	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgtaagaagttccctccaaAggcaaggcagtccacaggcg	12	6	12	11	1	0	1	0	0	0	1	3	1	3	1	3	3	0	4	3	3	4	2			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chrX:54029074A>C	ENST00000338154.6	-	9	1492	c.988T>G	c.(988-990)Ttt>Gtt	p.F330V	PHF8_ENST00000338946.6_Missense_Mutation_p.F330V|PHF8_ENST00000322659.8_Missense_Mutation_p.F330V|PHF8_ENST00000357988.5_Missense_Mutation_p.F366V	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	366	JmjC.				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						TTCCCTCCAAAGGCAAGGCAG	0.488													3	26					0	0	0.184627	0	0	C	54029074	A	C	54029074	3	2	171	1	0	0	0	0	1	0	0	0	11888	72	3	5	2312	5	PHF8	23	54029074	Missense_Mutation	SNP	A	TCGA-HC-7231-01A-11D-2114-08		54029074	101241486	53	7982											
DCAF12L1	139170	broad.mit.edu	37	chrX	125685920	125685920	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtgtcatcgaacttgtcCgggtccatccgccacagcgc	8	8	10	15	4	1	0	1	0	0	0	5	1	4	0	4	1	2	0	4	1	1	1			TCGA-HC-7231-01A-11D-2114-08	TCGA-HC-7231-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d995ea6-3c34-4bbb-a828-25f95800d404	b981708f-4f68-41ff-9f80-20bb1d64d4fc	g.chrX:125685920C>T	ENST00000371126.1	-	1	914	c.672G>A	c.(670-672)ccG>ccA	p.P224P		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	224								p.P224P(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CGAACTTGTCCGGGTCCATCC	0.642													25	14					0	0	0.729181	0	0	T	125685920	C	T	125685920	2	4	171	1	0	0	0	0	0	0	0	1	4288	639	23	1		1	DCAF12L1	23	125685920	Silent	SNP	C	TCGA-HC-7231-01A-11D-2114-08	71656846	125685920	29584640	54	7983											
PTCHD2	57540	broad.mit.edu	37	chr1	11596429	11596429	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctggaggccgtgcggcacGtgggcgtggccatcgtctcc	3	7	17	14	6	1	0	0	0	1	0	3	1	1	1	3	5	1	2	3	5	0	0			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr1:11596429G>A	ENST00000294484.6	+	21	4003	c.3865G>A	c.(3865-3867)Gtg>Atg	p.V1289M	PTCHD2_ENST00000389575.3_Missense_Mutation_p.V1289M|PTCHD2_ENST00000304391.6_Missense_Mutation_p.R175H	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1289					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CGTGCGGCACGTGGGCGTGGC	0.667													19	36					0	0	0.557998	0	0	A	11596429	G	A	11596429	3	1	172	1	0	0	0	0	1	0	0	0	12782	1145	40	1	3943	1	PTCHD2	1	11596429	Missense_Mutation	SNP	G	TCGA-HC-7232-01A-11D-2114-08		11596429	237654192	1	7984											
TCHH	7062	broad.mit.edu	37	chr1	152082220	152082220	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctggcgccttctcttctccGgttcctctctcagcagctgc	2	13	8	18	2	4	0	1	0	3	0	8	0	5	0	4	2	3	3	4	2	0	3	rs113946258		TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr1:152082220G>C	ENST00000368804.1	-	2	3472	c.3473C>G	c.(3472-3474)cCg>cGg	p.P1158R		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1158	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTCTTCTCCGGTTCCTCTCT	0.592													3	68					0	0	0.248553	0	0	C	152082220	G	C	152082220	3	2	172	1	0	0	0	0	1	0	0	0	15760	1116	39	4	2362	4	TCHH	1	152082220	Missense_Mutation	SNP	G	TCGA-HC-7232-01A-11D-2114-08	140485791	152082220	97168401	2	7985											
SPTA1	6708	broad.mit.edu	37	chr1	158637824	158637824	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcaaagacttgctgctttTgaaccctgctcttcaagttc	8	16	6	11	0	3	2	2	1	1	1	4	2	3	2	1	0	4	4	1	0	3	6			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr1:158637824T>A	ENST00000368148.3	-	15	2042	c.1862A>T	c.(1861-1863)cAa>cTa	p.Q621L	SPTA1_ENST00000368147.3_Missense_Mutation_p.Q621L	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	621					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTGCTGCTTTTGAACCCTGCT	0.388													4	189					0	0	0.184627	0	0	A	158637824	T	A	158637824	3	1	172	1	0	0	0	0	1	0	0	0	15172	1812	63	5	5549	5	SPTA1	1	158637824	Missense_Mutation	SNP	T	TCGA-HC-7232-01A-11D-2114-08	6555604	158637824	90612797	3	7986											
HMCN1	83872	broad.mit.edu	37	chr1	185959468	185959468	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gataagcctgttgagatctcCgtccttgcaggggaagaggt	9	10	14	8	1	1	2	0	1	1	2	3	5	2	3	3	3	2	2	3	3	2	3			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr1:185959468C>T	ENST00000271588.4	+	22	3499	c.3270C>T	c.(3268-3270)tcC>tcT	p.S1090S	HMCN1_ENST00000367492.2_Silent_p.S1090S|HMCN1_ENST00000485744.1_3'UTR	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1090	Ig-like C2-type 8.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.S1090S(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTGAGATCTCCGTCCTTGCAG	0.458													69	180					0	0	0.870114	0	0	T	185959468	C	T	185959468	2	4	172	1	0	0	0	0	0	0	0	1	7261	639	23	1		1	HMCN1	1	185959468	Silent	SNP	C	TCGA-HC-7232-01A-11D-2114-08	27321644	185959468	63291153	4	7987											
ASTL	431705	broad.mit.edu	37	chr2	96789882	96789882	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccccaggccctgcaggaaCgggctggcctcccgcactgg	5	5	13	18	2	0	0	0	0	0	0	2	1	2	1	5	5	2	3	5	5	1	0	rs138508296	by1000genomes	TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr2:96789882C>T	ENST00000342380.2	-	9	1002	c.1003G>A	c.(1003-1005)Gtt>Att	p.V335I		NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN	astacin-like metallo-endopeptidase (M12 family)	335					proteolysis		metalloendopeptidase activity|zinc ion binding	p.V335F(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						CCTGCAGGAACGGGCTGGCCT	0.672													17	57					0	0	0.557998	0	0	T	96789882	C	T	96789882	3	4	172	1	0	0	0	0	1	0	0	0	1062	536	19	1	295	1	ASTL	2	96789882	Missense_Mutation	SNP	C	TCGA-HC-7232-01A-11D-2114-08		96789882	146409491	5	7988											
BUB1	699	broad.mit.edu	37	chr2	111416223	111416223	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgtgcacggtgggtgatGgctgcactttggatggcgtt	4	14	17	6	2	0	1	0	1	0	0	0	2	0	2	0	5	2	4	0	5	0	3			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr2:111416223G>T	ENST00000535254.1	-	11	1380	c.1313C>A	c.(1312-1314)cCa>cAa	p.P438Q	BUB1_ENST00000302759.6_Missense_Mutation_p.P458Q|BUB1_ENST00000409311.1_Missense_Mutation_p.P458Q	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	458					apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		GGTGGGTGATGGCTGCACTTT	0.433													4	81					0.00909568	0.00979535	0.150653	1	0	T	111416223	G	T	111416223	3	4	172	1	0	0	0	0	1	0	0	0	1573	1348	47	4	1940	4	BUB1	2	111416223	Missense_Mutation	SNP	G	TCGA-HC-7232-01A-11D-2114-08	14626341	111416223	131783150	6	7989											
UGT1A9	0	broad.mit.edu	37	chr2	234581373	234581373	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttggactatcccaaacccGtgatgcccaacatgatcttc	10	12	6	13	1	1	2	0	2	1	0	3	3	2	3	3	1	3	0	3	1	3	4	rs142414435	byFrequency	TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr2:234581373G>A	ENST00000354728.4	+	1	875	c.793G>A	c.(793-795)Gtg>Atg	p.V265M	UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron	NM_021027.2	NP_066307.1														breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)		TCCCAAACCCGTGATGCCCAA	0.438													5	291					0	0	0.248553	0	0	A	234581373	G	A	234581373	3	1	172	1	0	0	0	0	1	0	0	0	17012	1145	40	1	795	1	UGT1A9	2	234581373	Missense_Mutation	SNP	G	TCGA-HC-7232-01A-11D-2114-08	123165150	234581373	8618000	7	7990											
RFTN1	23180	broad.mit.edu	37	chr3	16364942	16364942	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctctgaagaaagacaatctGcttggtggatacactcccct	11	11	8	11	0	2	3	0	1	2	2	4	4	3	4	2	2	2	1	2	2	4	2			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr3:16364942G>C	ENST00000334133.4	-	9	1545	c.1273C>G	c.(1273-1275)Cag>Gag	p.Q425E	OXNAD1_ENST00000435829.2_Intron|OXNAD1_ENST00000606098.1_Intron|OXNAD1_ENST00000605932.1_Intron|RFTN1_ENST00000483671.1_5'UTR|RFTN1_ENST00000432519.1_Missense_Mutation_p.Q389E|OXNAD1_ENST00000544043.1_Intron	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	425						plasma membrane				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						AAGACAATCTGCTTGGTGGAT	0.473													14	52					0	0	0.539581	0	0	C	16364942	G	C	16364942	3	2	172	1	0	0	0	0	1	0	0	0	13310	1328	46	4	471	4	RFTN1	3	16364942	Missense_Mutation	SNP	G	TCGA-HC-7232-01A-11D-2114-08		16364942	181657488	8	7991											
COL7A1	1294	broad.mit.edu	37	chr3	48626825	48626825	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgggccctcacatgcaccGtatactcagtatctggctcc	8	10	8	15	1	3	0	2	0	1	0	4	0	4	0	3	2	2	4	3	2	3	3			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr3:48626825G>A	ENST00000328333.8	-	17	2356	c.2249C>T	c.(2248-2250)aCg>aTg	p.T750M	COL7A1_ENST00000454817.1_Missense_Mutation_p.T750M	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	750	Fibronectin type-III 6.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CACATGCACCGTATACTCAGT	0.622													21	58					0	0	0.654019	0	0	A	48626825	G	A	48626825	3	1	172	1	0	0	0	0	1	0	0	0	3727	1145	40	1	6993	1	COL7A1	3	48626825	Missense_Mutation	SNP	G	TCGA-HC-7232-01A-11D-2114-08	32261883	48626825	149395605	9	7992											
ALDH1L1	10840	broad.mit.edu	37	chr3	125824617	125824617	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaatcctccgaagggagcggCcacgtcggtcttgttgtacg	7	9	14	11	5	1	0	0	0	1	0	4	3	3	1	3	3	2	2	3	3	3	3			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr3:125824617C>G	ENST00000393434.2	-	22	2954	c.2605G>C	c.(2605-2607)Gcc>Ccc	p.A869P	ALDH1L1_ENST00000273450.3_Missense_Mutation_p.A879P|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.A768P|ALDH1L1-AS1_ENST00000512384.1_RNA|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.A869P|ALDH1L1_ENST00000393431.2_3'UTR	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	869	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	AAGGGAGCGGCCACGTCGGTC	0.488													40	125					0	0	0.870114	0	0	G	125824617	C	G	125824617	3	3	172	1	0	0	0	0	1	0	0	0	491	739	26	4	111	4	ALDH1L1	3	125824617	Missense_Mutation	SNP	C	TCGA-HC-7232-01A-11D-2114-08	77197792	125824617	72197813	10	7993											
AP2M1	1173	broad.mit.edu	37	chr3	183901338	183901338	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaccgaagctgaactacagCgaccatgatgtcatcaaatg	15	7	9	10	2	2	2	2	2	0	0	2	5	2	2	2	0	5	1	2	0	5	1			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr3:183901338C>T	ENST00000382456.3	+	11	1550	c.1236C>T	c.(1234-1236)agC>agT	p.S412S	AP2M1_ENST00000461733.1_3'UTR|EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000439647.1_Silent_p.S412S|AP2M1_ENST00000411763.2_Silent_p.S439S|AP2M1_ENST00000292807.5_Silent_p.S414S	NM_001025205.1	NP_001020376.1	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit	414	MHD.				axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane	lipid binding|protein binding|transporter activity			endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGAACTACAGCGACCATGATG	0.557													16	51					0	0	0.557998	0	0	T	183901338	C	T	183901338	2	4	172	1	0	0	0	0	0	0	0	1	738	767	27	1		1	AP2M1	3	183901338	Silent	SNP	C	TCGA-HC-7232-01A-11D-2114-08	58076721	183901338	14121092	11	7994											
AHSG	197	broad.mit.edu	37	chr3	186338454	186338454	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggacccagatgcacctccgtCccctccacttggcgcacctg	6	7	9	19	2	0	1	0	0	0	1	3	2	3	2	7	2	1	2	7	2	0	1			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr3:186338454C>T	ENST00000411641.2	+	7	1058	c.839C>T	c.(838-840)tCc>tTc	p.S280F	AHSG_ENST00000273784.5_Missense_Mutation_p.S281F			P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	280					acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		GCACCTCCGTCCCCTCCACTT	0.627													43	163					0	0	0.870114	0	0	T	186338454	C	T	186338454	3	4	172	1	0	0	0	0	1	0	0	0	417	855	30	2	865	2	AHSG	3	186338454	Missense_Mutation	SNP	C	TCGA-HC-7232-01A-11D-2114-08	2437116	186338454	11683976	12	7995											
CCNG2	901	broad.mit.edu	37	chr4	78082099	78082099	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttgcacttataccatactAttatactttgtcatacttca	11	19	2	9	0	2	0	2	0	0	0	2	0	2	0	1	0	5	1	1	0	7	11			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr4:78082099A>G	ENST00000316355.5	+	4	858	c.502A>G	c.(502-504)Att>Gtt	p.I168V	CCNG2_ENST00000497512.1_3'UTR|CCNG2_ENST00000509972.1_Missense_Mutation_p.I168V|CCNG2_ENST00000502280.1_Missense_Mutation_p.I168V|CCNG2_ENST00000395640.1_Missense_Mutation_p.I168V|CCNG2_ENST00000354403.5_Missense_Mutation_p.I168V	NM_004354.2	NP_004345.1	Q16589	CCNG2_HUMAN	cyclin G2	168					cell cycle checkpoint|cell division|mitosis	cytoplasm				breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						ATACCATACTATTATACTTTG	0.313													9	48					0	0	0.361761	0	0	G	78082099	A	G	78082099	3	3	172	1	0	0	0	0	1	0	0	0	2946	449	16	3	512	3	CCNG2	4	78082099	Missense_Mutation	SNP	A	TCGA-HC-7232-01A-11D-2114-08		78082099	113072177	13	7996											
ARHGAP10	79658	broad.mit.edu	37	chr4	148802993	148802993	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatgattatttgcagggggAcggagaggtgttctttttga	10	14	14	3	1	1	3	0	2	1	1	1	5	1	4	0	4	1	2	0	4	2	5			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr4:148802993A>G	ENST00000336498.3	+	10	1183	c.944A>G	c.(943-945)gAc>gGc	p.D315G		NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN	Rho GTPase activating protein 10	315	PH.				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		TTGCAGGGGGACGGAGAGGTG	0.408													4	163					0	0	0.184627	0	0	G	148802993	A	G	148802993	3	3	172	1	0	0	0	0	1	0	0	0	859	275	10	3	982	3	ARHGAP10	4	148802993	Missense_Mutation	SNP	A	TCGA-HC-7232-01A-11D-2114-08	70720894	148802993	42351283	14	7997											
TRPC7	57113	broad.mit.edu	37	chr5	135692511	135692511	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcgtggggccgctcgatgcGggcgcccttgagcagcagga	5	6	18	12	5	0	1	0	1	0	0	2	3	0	2	2	4	3	3	2	4	0	1			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr5:135692511G>A	ENST00000513104.1	-	2	847	c.565C>T	c.(565-567)Cgc>Tgc	p.R189C	TRPC7_ENST00000426057.2_Missense_Mutation_p.R189C|TRPC7_ENST00000355180.3_Missense_Mutation_p.R189C	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	189					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CGCTCGATGCGGGCGCCCTTG	0.622													24	94					0	0	0.681144	0	0	A	135692511	G	A	135692511	3	1	172	1	0	0	0	0	1	0	0	0	16645	1116	39	1	2067	1	TRPC7	5	135692511	Missense_Mutation	SNP	G	TCGA-HC-7232-01A-11D-2114-08		135692511	45222749	15	7998											
N4BP3	23138	broad.mit.edu	37	chr5	177546687	177546687	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctgcgggcggcacttgccGggtctcggggctcccgccag	3	6	17	15	5	1	0	0	0	1	0	3	0	2	0	3	5	3	3	3	5	0	1			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr5:177546687G>A	ENST00000274605.5	+	2	462	c.103G>A	c.(103-105)Ggg>Agg	p.G35R		NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	NEDD4 binding protein 3	35						cytoplasmic vesicle membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCACTTGCCGGGTCTCGGGG	0.677													4	68					0	0	0.217242	0	0	A	177546687	G	A	177546687	3	1	172	1	0	0	0	0	1	0	0	0	10161	1116	39	1	105	1	N4BP3	5	177546687	Missense_Mutation	SNP	G	TCGA-HC-7232-01A-11D-2114-08	41854176	177546687	3368573	16	7999											
TRIM10	10107	broad.mit.edu	37	chr6	30121516	30121516	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtggtgagcagaactggcaGcagcctgagtccccaggtac	9	6	15	11	0	0	3	0	2	0	1	1	3	1	3	3	4	5	4	3	4	2	1			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr6:30121516G>A	ENST00000376704.3	-	8	1212	c.1137C>T	c.(1135-1137)tgC>tgT	p.C379C	TRIM10_ENST00000449742.2_3'UTR	NM_052828.2	NP_439893.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	0	B30.2/SPRY.					cytoplasm	zinc ion binding			ovary(1)	1						AGAACTGGCAGCAGCCTGAGT	0.547													3	44					0	0	0.150653	0	0	A	30121516	G	A	30121516	2	1	172	1	0	0	0	0	0	0	0	1	16547	963	34	2		2	TRIM10	6	30121516	Silent	SNP	G	TCGA-HC-7232-01A-11D-2114-08		30121516	140993551	17	8000											
TNXB	7148	broad.mit.edu	37	chr6	32011583	32011583	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagcctcggaccgagaccaCggtcacctcatagcgagcgc	11	4	11	15	5	2	1	2	0	0	1	3	4	2	2	4	2	3	0	4	2	2	1			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr6:32011583C>T	ENST00000375244.3	-	35	11674	c.11473G>A	c.(11473-11475)Gtg>Atg	p.V3825M	TNXB_ENST00000451343.1_Missense_Mutation_p.V254M|TNXB_ENST00000375247.2_Missense_Mutation_p.V3823M			P22105	TENX_HUMAN	tenascin XB	3870	Fibronectin type-III 30.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						ACCGAGACCACGGTCACCTCA	0.627													24	129					0	0	0.693898	0	0	T	32011583	C	T	32011583	3	4	172	1	0	0	0	0	1	0	0	0	16406	536	19	1	3286	1	TNXB	6	32011583	Missense_Mutation	SNP	C	TCGA-HC-7232-01A-11D-2114-08	1890067	32011583	139103484	18	8001											
PTPRK	5796	broad.mit.edu	37	chr6	128294293	128294293	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaacatgccacttcgcccGccaccatttctgaaagcaaa	13	7	6	15	2	1	2	0	1	1	1	2	2	1	2	4	0	3	1	4	0	3	2			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr6:128294293G>A	ENST00000368227.3	-	30	4560	c.4194C>T	c.(4192-4194)ggC>ggT	p.G1398G	PTPRK_ENST00000532331.1_Silent_p.G1403G|PTPRK_ENST00000368213.5_Silent_p.G1387G|PTPRK_ENST00000368226.4_Silent_p.G1381G|PTPRK_ENST00000368210.3_Silent_p.G1399G|PTPRK_ENST00000368215.3_Silent_p.G1380G|PTPRK_ENST00000368207.3_Silent_p.G1413G			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1380	Tyrosine-protein phosphatase 2.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CACTTCGCCCGCCACCATTTC	0.428													24	56					0	0	0.740014	0	0	A	128294293	G	A	128294293	2	1	172	1	0	0	0	0	0	0	0	1	12857	1074	38	1		1	PTPRK	6	128294293	Silent	SNP	G	TCGA-HC-7232-01A-11D-2114-08	96282710	128294293	42820774	19	8002											
ZCWPW1	55063	broad.mit.edu	37	chr7	100014780	100014780	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggctgggcacaagaagtctCtgcaaaatcaaggccagatc	13	6	12	10	0	2	2	1	0	1	2	4	2	2	2	1	3	1	3	1	3	5	0			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr7:100014780C>G	ENST00000398027.2	-	6	635	c.388G>C	c.(388-390)Gag>Cag	p.E130Q	ZCWPW1_ENST00000490721.1_Missense_Mutation_p.E9Q|ZCWPW1_ENST00000324725.6_Missense_Mutation_p.E9Q|ZCWPW1_ENST00000360951.4_Missense_Mutation_p.E130Q	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	130							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAAGAAGTCTCTGCAAAATCA	0.413													20	57					0	0	0.624587	0	0	G	100014780	C	G	100014780	3	3	172	1	0	0	0	0	1	0	0	0	17655	922	32	4	1610	4	ZCWPW1	7	100014780	Missense_Mutation	SNP	C	TCGA-HC-7232-01A-11D-2114-08		100014780	59123883	20	8003											
PLAT	5327	broad.mit.edu	37	chr8	42045029	42045029	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcactcggcgccactctcCgctgtgctccacgtgcccct	3	9	10	19	4	1	0	0	0	1	0	4	0	2	0	5	1	3	3	5	1	0	0	rs146968391		TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr8:42045029C>A	ENST00000220809.4	-	6	682	c.426G>T	c.(424-426)gcG>gcT	p.A142A	PLAT_ENST00000519510.1_Intron|PLAT_ENST00000524009.1_Intron|PLAT_ENST00000429710.2_Intron|PLAT_ENST00000429089.2_Silent_p.A142A|PLAT_ENST00000352041.3_Silent_p.A96A|PLAT_ENST00000270189.6_Silent_p.A142A	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	142	Kringle 1.				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CGCCACTCTCCGCTGTGCTCC	0.657													15	31					6.49762e-13	7.10677e-13	0.539581	1	0	A	42045029	C	A	42045029	2	1	172	1	0	0	0	0	0	0	0	1	12069	639	23	4		4	PLAT	8	42045029	Silent	SNP	C	TCGA-HC-7232-01A-11D-2114-08		42045029	104318993	21	8004											
OGDHL	55753	broad.mit.edu	37	chr10	50953438	50953438	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcggcaatcagcttgtctgcGtacttcttcagcacaggcac	8	11	9	13	2	4	0	2	0	2	0	5	0	4	0	0	2	4	5	0	2	2	4			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr10:50953438G>A	ENST00000374103.4	-	12	1666	c.1581C>T	c.(1579-1581)taC>taT	p.Y527Y	OGDHL_ENST00000432695.1_Silent_p.Y318Y|OGDHL_ENST00000419399.1_Silent_p.Y470Y	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	527					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GCTTGTCTGCGTACTTCTTCA	0.602													5	53					0	0	0.217242	0	0	A	50953438	G	A	50953438	2	1	172	1	0	0	0	0	0	0	0	1	10888	1140	40	1		1	OGDHL	10	50953438	Silent	SNP	G	TCGA-HC-7232-01A-11D-2114-08		50953438	84581309	22	8005											
EXT2	2132	broad.mit.edu	37	chr11	44151632	44151632	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaagaaaagatgtcagatGtgtacagtattttgcagagc	15	10	11	5	0	1	5	1	0	0	5	1	5	1	5	0	0	3	3	0	0	5	4			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr11:44151632G>A	ENST00000395673.3	+	7	1272	c.1216G>A	c.(1216-1218)Gtg>Atg	p.V406M	EXT2_ENST00000533608.1_Missense_Mutation_p.V373M|EXT2_ENST00000358681.4_Missense_Mutation_p.V373M|EXT2_ENST00000343631.3_Missense_Mutation_p.V373M	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	373					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						GATGTCAGATGTGTACAGTAT	0.453			"Mis, N, F, S"			"exostoses, osteosarcoma"			Hereditary Multiple Exostoses				23	53					0	0	0.706142	0	0	A	44151632	G	A	44151632	3	1	172	1	0	0	0	0	1	0	0	0	5352	1377	48	2	1242	2	EXT2	11	44151632	Missense_Mutation	SNP	G	TCGA-HC-7232-01A-11D-2114-08		44151632	90854884	23	8006											
OR5F1	338674	broad.mit.edu	37	chr11	55761664	55761664	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaccctgcagcaaaagccccGgctgccatttttaggtagac	11	8	9	13	1	0	1	0	0	0	1	0	1	0	1	4	2	5	4	4	2	5	4			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr11:55761664G>A	ENST00000278409.1	-	1	437	c.438C>T	c.(436-438)gcC>gcT	p.A146A		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	146					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					CAAAAGCCCCGGCTGCCATTT	0.502													12	27					0	0	0.479597	0	0	A	55761664	G	A	55761664	2	1	172	1	0	0	0	0	0	0	0	1	11205	1103	39	1		1	OR5F1	11	55761664	Silent	SNP	G	TCGA-HC-7232-01A-11D-2114-08	11610032	55761664	79244852	24	8007											
GAB2	9846	broad.mit.edu	37	chr11	77961404	77961404	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctgagctcagctggagaaGagcgggggccatgaccggct	8	6	17	10	2	1	4	1	2	0	2	1	5	1	4	2	4	4	4	2	4	1	0			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr11:77961404G>A	ENST00000361507.4	-	3	504	c.419C>T	c.(418-420)tCt>tTt	p.S140F	GAB2_ENST00000340149.2_Missense_Mutation_p.S102F|GAB2_ENST00000526030.1_Intron	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	140					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			AGCTGGAGAAGAGCGGGGGCC	0.517													28	62					0	0	0.729181	0	0	A	77961404	G	A	77961404	3	1	172	1	0	0	0	0	1	0	0	0	6184	942	33	2	1643	2	GAB2	11	77961404	Missense_Mutation	SNP	G	TCGA-HC-7232-01A-11D-2114-08	22199740	77961404	57045112	25	8008											
FOLH1B	219595	broad.mit.edu	37	chr11	89407165	89407165	+	RNA	DEL	T	T	-																															cttcccaaaccatcaatgacTtttttttttttccccaatct																								rs112016970		TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr11:89407165delT	ENST00000532352.1	+	0	1114							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						CATCAATGACTTTTTTTTTTT	0.303													3	5	---	---	---	---						-	89407165	T	-	89407165	6	5	172	0	1	1	0	1	0	0	0	0	6013	1624	56	0		0	FOLH1B	11	89407165	RNA	DEL	T	TCGA-HC-7232-01A-11D-2114-08	11445761	89407165	45599351	26	8009											
DDX47	51202	broad.mit.edu	37	chr12	12974651	12974651	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccttgcaaaaaaaccacatAtaataataggtgagtaactg	18	9	6	8	0	0	1	0	1	0	0	0	1	0	1	2	1	3	2	2	1	8	6			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr12:12974651A>G	ENST00000358007.3	+	4	455	c.433A>G	c.(433-435)Ata>Gta	p.I145V	RP11-59H1.3_ENST00000534843.1_3'UTR|DDX47_ENST00000352940.4_Missense_Mutation_p.I145V	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	145	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		AAAACCACATATAATAATAGG	0.358													12	42					0	0	0.479597	0	0	G	12974651	A	G	12974651	3	3	172	1	0	0	0	0	1	0	0	0	4388	449	16	3	447	3	DDX47	12	12974651	Missense_Mutation	SNP	A	TCGA-HC-7232-01A-11D-2114-08		12974651	120877244	27	8010											
NACA	4666	broad.mit.edu	37	chr12	57111705	57111705	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctagacctccttttggggaGggaggagttgcagctggggt	6	10	18	7	0	0	1	0	0	0	1	1	4	1	4	2	6	2	4	2	6	1	4	rs2926746		TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr12:57111705G>A	ENST00000454682.1	-	3	3890	c.3609C>T	c.(3607-3609)ccC>ccT	p.P1203P	NACA_ENST00000548563.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CTTTTGGGGAGGGAGGAGTTG	0.642			T	BCL6	NHL								4	142					0	0	0.150653	0	0	A	57111705	G	A	57111705	2	1	172	1	0	0	0	0	0	0	0	1	10181	987	35	2		2	NACA	12	57111705	Silent	SNP	G	TCGA-HC-7232-01A-11D-2114-08	44137054	57111705	76740190	28	8011											
ENOX1	55068	broad.mit.edu	37	chr13	43934080	43934080	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgaattgctgtaatatcacCgcactgttcaaagacttctt	11	13	6	11	2	3	1	2	0	1	1	3	2	3	1	2	0	1	4	2	0	4	6			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr13:43934080C>T	ENST00000261488.6	-	7	1073	c.496G>A	c.(496-498)Ggt>Agt	p.G166S	ENOX1_ENST00000540032.1_5'UTR|ENOX1_ENST00000412891.1_Missense_Mutation_p.G166S|ENOX1_ENST00000482207.1_5'UTR	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	166	RRM.				electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		GTAATATCACCGCACTGTTCA	0.403													20	26					0	0	0.592651	0	0	T	43934080	C	T	43934080	3	4	172	1	0	0	0	0	1	0	0	0	5154	652	23	1	1479	1	ENOX1	13	43934080	Missense_Mutation	SNP	C	TCGA-HC-7232-01A-11D-2114-08		43934080	71235798	29	8012											
ZIC5	85416	broad.mit.edu	37	chr13	100622586	100622586	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctcggggcctcccacgtgCtccaccgtgacgtgattcac	5	9	11	16	4	1	2	1	2	0	0	4	2	3	2	4	2	2	2	4	2	0	1			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr13:100622586C>T	ENST00000267294.4	-	1	1577	c.1344G>A	c.(1342-1344)gaG>gaA	p.E448E		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	448					cell differentiation	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CTCCCACGTGCTCCACCGTGA	0.677													16	39					0	0	0.557998	0	0	T	100622586	C	T	100622586	2	4	172	1	0	0	0	0	0	0	0	1	17740	796	28	2		2	ZIC5	13	100622586	Silent	SNP	C	TCGA-HC-7232-01A-11D-2114-08	56688506	100622586	14547292	30	8013											
GZMB	3002	broad.mit.edu	37	chr14	25101106	25101106	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgggtcccccacgcacaaCtcaatggtactgtcgtaata	10	10	8	13	2	2	0	1	0	1	0	4	0	3	0	2	2	2	3	2	2	5	3	rs150419134	byFrequency	TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr14:25101106C>T	ENST00000216341.4	-	4	664	c.558G>A	c.(556-558)gaG>gaA	p.E186E	RP11-104E19.1_ENST00000557736.1_RNA|GZMB_ENST00000415355.3_Silent_p.E174E|GZMB_ENST00000526004.1_3'UTR|GZMB_ENST00000382542.1_Silent_p.E220E|GZMB_ENST00000382540.1_Silent_p.E141E|RP11-104E19.1_ENST00000555300.1_RNA			P10144	GRAB_HUMAN	granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)	186	Peptidase S1.				activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals	cytosol|immunological synapse|nucleus	protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2)	13				GBM - Glioblastoma multiforme(265;0.028)		CCACGCACAACTCAATGGTAC	0.453													25	122					0	0	0.681144	0	0	T	25101106	C	T	25101106	2	4	172	1	0	0	0	0	0	0	0	1	6957	564	20	2		2	GZMB	14	25101106	Silent	SNP	C	TCGA-HC-7232-01A-11D-2114-08		25101106	82248434	31	8014											
ZFP36L1	677	broad.mit.edu	37	chr14	69256863	69256863	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgccgtgtgcgaactggCacttgtccccgtacttacag	7	10	12	12	3	0	0	0	0	0	0	1	2	1	1	3	2	5	2	3	2	3	3			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr14:69256863C>A	ENST00000439696.2	-	2	705	c.404G>T	c.(403-405)tGc>tTc	p.C135F	ZFP36L1_ENST00000336440.3_Missense_Mutation_p.C135F|ZFP36L1_ENST00000555997.1_3'UTR	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	135					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TGCGAACTGGCACTTGTCCCC	0.642											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	36	159					1.03325e-14	1.14805e-14	0.859065	1	0	A	69256863	C	A	69256863	3	1	172	1	0	0	0	0	1	0	0	0	17704	710	25	4	616	4	ZFP36L1	14	69256863	Missense_Mutation	SNP	C	TCGA-HC-7232-01A-11D-2114-08	44155757	69256863	38092677	32	8015											
LRRC49	54839	broad.mit.edu	37	chr15	71185232	71185232	+	Translation_Start_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaacctggactgtctcctaTcatgattcccgggaaatatc	11	11	8	11	1	2	2	1	1	1	1	5	4	3	4	3	2	1	0	3	2	4	3			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr15:71185232T>G	ENST00000443425.2	+	0	62				LRRC49_ENST00000260382.5_De_novo_Start_InFrame|LRRC49_ENST00000544974.2_Intron|LRRC49_ENST00000560369.1_De_novo_Start_InFrame	NM_001199018.1	NP_001185947.1	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49							cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						CTGTCTCCTATCATGATTCCC	0.512											OREG0023244	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	101					0	0	0.706142	0	0	G	71185232	T	G	71185232	1	3	172	1	0	0	0	0	0	0	0	0	9051	1450	50	5		5	LRRC49	15	71185232	Translation_Start_Site	SNP	T	TCGA-HC-7232-01A-11D-2114-08		71185232	31346160	33	8016											
PTPN9	5780	broad.mit.edu	37	chr15	75798219	75798219	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgaagggatctgggtggccGttcacctggggtaggaactg	7	9	17	8	2	2	0	1	0	1	0	3	3	2	2	2	6	1	2	2	6	3	2	rs146156674		TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr15:75798219G>A	ENST00000306726.2	-	7	1277	c.765C>T	c.(763-765)aaC>aaT	p.N255N		NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	255						cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTGGGTGGCCGTTCACCTGGG	0.542													3	53					0	0	0.150653	0	0	A	75798219	G	A	75798219	2	1	172	1	0	0	0	0	0	0	0	1	12846	1136	40	1		1	PTPN9	15	75798219	Silent	SNP	G	TCGA-HC-7232-01A-11D-2114-08	4612987	75798219	26733173	34	8017											
ASB7	140460	broad.mit.edu	37	chr15	101169708	101169708	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctatgcagccatgcatggccGggcccgcattgcacgcttga	7	8	12	14	3	0	1	0	1	0	0	0	1	0	1	3	2	4	5	3	2	1	3			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr15:101169708G>A	ENST00000332783.7	+	5	1063	c.278G>A	c.(277-279)cGg>cAg	p.R93Q	ASB7_ENST00000343276.4_Missense_Mutation_p.R93Q|ASB7_ENST00000558747.1_Intron	NM_198243.2	NP_937886.1	Q9H672	ASB7_HUMAN	ankyrin repeat and SOCS box containing 7	93					intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)	16	Lung NSC(78;0.00121)|all_lung(78;0.00152)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.00168)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)			ATGCATGGCCGGGCCCGCATT	0.483													3	75					0	0	0.115264	0	0	A	101169708	G	A	101169708	3	1	172	1	0	0	0	0	1	0	0	0	1027	1116	39	1	284	1	ASB7	15	101169708	Missense_Mutation	SNP	G	TCGA-HC-7232-01A-11D-2114-08	25371489	101169708	1361684	35	8018											
TTLL6	284076	broad.mit.edu	37	chr17	46863542	46863542	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttacctgtttggaggcttggGtggcggccttgtctttctgc	2	16	14	9	1	2	0	0	0	2	0	2	1	2	1	2	5	2	2	2	5	1	5			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr17:46863542G>A	ENST00000393382.3	-	12	1886	c.1745C>T	c.(1744-1746)aCc>aTc	p.T582I	TTLL6_ENST00000433608.2_Missense_Mutation_p.T275I	NM_001130918.1	NP_001124390.1	Q8N841	TTLL6_HUMAN	tubulin tyrosine ligase-like family, member 6	534						cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GGAGGCTTGGGTGGCGGCCTT	0.577													13	530					0	0	0.457914	0	0	A	46863542	G	A	46863542	3	1	172	1	0	0	0	0	1	0	0	0	16793	1261	44	2	946	2	TTLL6	17	46863542	Missense_Mutation	SNP	G	TCGA-HC-7232-01A-11D-2114-08		46863542	34331668	36	8019											
KIF2B	84643	broad.mit.edu	37	chr17	51901055	51901055	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgcgtctgcgtgaggaagCggcctctcaaccagcgagag	8	7	14	12	4	3	2	1	1	3	1	4	4	3	3	2	2	5	0	2	2	2	0			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr17:51901055C>T	ENST00000268919.4	+	1	817	c.661C>T	c.(661-663)Cgg>Tgg	p.R221W		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	221	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.R221W(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CGTGAGGAAGCGGCCTCTCAA	0.547													8	19					0	0	0.335167	0	0	T	51901055	C	T	51901055	3	4	172	1	0	0	0	0	1	0	0	0	8340	759	27	1	663	1	KIF2B	17	51901055	Missense_Mutation	SNP	C	TCGA-HC-7232-01A-11D-2114-08	5037513	51901055	29294155	37	8020											
UHRF1	29128	broad.mit.edu	37	chr19	4930834	4930834	+	RNA	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ccgggacgagccctgcagctCcacgtccaggccggcgctgg	5	4	15	17	5	0	0	0	0	0	0	2	2	2	1	5	4	3	3	5	4	0	0			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr19:4930834C>G	ENST00000592666.1	+	0	1091							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		CCCTGCAGCTCCACGTCCAGG	0.647													29	82					0	0	0.796494	0	0	G	4930834	C	G	4930834	1	3	172	0	1	0	0	0	0	0	0	0	17027	855	30	4		4	UHRF1	19	4930834	RNA	SNP	C	TCGA-HC-7232-01A-11D-2114-08		4930834	54198149	38	8021											
ZNF780B	163131	broad.mit.edu	37	chr19	40541898	40541898	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatgctgaataagatttgAaccacgattaaaggctttcc	13	13	8	7	1	0	4	0	3	0	1	1	5	1	4	2	1	2	2	2	1	5	5			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr19:40541898A>C	ENST00000434248.1	-	5	933	c.868T>G	c.(868-870)Tca>Gca	p.S290A	ZNF780B_ENST00000221355.6_Missense_Mutation_p.S142A	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	290					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					ATAAGATTTGAACCACGATTA	0.368													3	95					0	0	0.27861	0	0	C	40541898	A	C	40541898	3	2	172	1	0	0	0	0	1	0	0	0	18202	246	9	5	1637	5	ZNF780B	19	40541898	Missense_Mutation	SNP	A	TCGA-HC-7232-01A-11D-2114-08	35611064	40541898	18587085	39	8022			1	19		2	2	15	N	G_A	2.261194e-05
ZNF780B	163131	broad.mit.edu	37	chr19	40541912	40541912	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gatttgaaccacgattaaagGctttcccacactccttacat	12	12	5	12	1	0	1	0	1	0	0	2	3	2	1	3	1	2	1	3	1	4	4	rs139701679	by1000genomes	TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr19:40541912G>C	ENST00000434248.1	-	5	919	c.854C>G	c.(853-855)gCc>gGc	p.A285G	ZNF780B_ENST00000221355.6_Missense_Mutation_p.A137G	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					ACGATTAAAGGCTTTCCCACA	0.373													4	88					0	0	0.335167	0	0	C	40541912	G	C	40541912	3	2	172	1	0	0	0	0	1	0	0	0	18202	1203	42	4	1651	4	ZNF780B	19	40541912	Missense_Mutation	SNP	G	TCGA-HC-7232-01A-11D-2114-08	14	40541912	18587071	40	8023			1	19		2	2	15	N	G_A	2.261194e-05
IRGQ	126298	broad.mit.edu	37	chr19	44096224	44096224	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacagcctcagcatcagccCgcatctcatcgagagcctgc	9	6	9	17	2	3	1	3	0	1	1	5	2	3	1	3	0	5	3	3	0	0	0			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr19:44096224C>T	ENST00000422989.1	-	3	1981	c.1826G>A	c.(1825-1827)cGg>cAg	p.R609Q	IRGQ_ENST00000601520.1_Intron|L34079.2_ENST00000594374.1_Intron|IRGQ_ENST00000602269.1_Missense_Mutation_p.R609Q	NM_001007561.2	NP_001007562.1	Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	609	Ala-rich.						protein binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				AGCATCAGCCCGCATCTCATC	0.672													4	145					0	0	0.184627	0	0	T	44096224	C	T	44096224	3	4	172	1	0	0	0	0	1	0	0	0	7883	652	23	1	49	1	IRGQ	19	44096224	Missense_Mutation	SNP	C	TCGA-HC-7232-01A-11D-2114-08	3554312	44096224	15032759	41	8024											
SIGLEC11	114132	broad.mit.edu	37	chr19	50462138	50462138	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggaccgggagggatgtgccGttcccgaggttttccaggac	7	8	16	10	3	0	0	0	0	0	0	2	5	2	4	4	5	1	2	4	5	0	3			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr19:50462138G>A	ENST00000447370.2	-	7	1215	c.1125C>T	c.(1123-1125)aaC>aaT	p.N375N	SIGLEC11_ENST00000426971.2_Silent_p.N375N	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	375	Ig-like C2-type 3.				cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		GGGATGTGCCGTTCCCGAGGT	0.662													3	45					0	0	0.150653	0	0	A	50462138	G	A	50462138	2	1	172	1	0	0	0	0	0	0	0	1	14362	1136	40	1		1	SIGLEC11	19	50462138	Silent	SNP	G	TCGA-HC-7232-01A-11D-2114-08	6365914	50462138	8666845	42	8025											
FPR2	2358	broad.mit.edu	37	chr19	52272405	52272405	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagttttcctctttttgaCtacagtaactattccaaatg	10	16	5	10	0	1	1	0	1	1	0	3	1	3	1	3	0	2	2	3	0	4	8			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr19:52272405C>A	ENST00000598776.1	+	2	1266	c.494C>A	c.(493-495)aCt>aAt	p.T165N	FPR2_ENST00000340023.6_Missense_Mutation_p.T165N|FPR2_ENST00000598953.1_Missense_Mutation_p.T165N	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	165					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						CTCTTTTTGACTACAGTAACT	0.512													3	108					0.115264	0.12225	0.115264	1	0	A	52272405	C	A	52272405	3	1	172	1	0	0	0	0	1	0	0	0	6073	565	20	4	496	4	FPR2	19	52272405	Missense_Mutation	SNP	C	TCGA-HC-7232-01A-11D-2114-08	1810267	52272405	6856578	43	8026											
ZNF416	55659	broad.mit.edu	37	chr19	58084554	58084554	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttgctagattcataaagccTttttccagtgcagactctag	10	15	7	9	0	2	2	1	0	1	2	3	2	3	2	2	0	3	2	2	0	4	7			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr19:58084554T>C	ENST00000196489.3	-	4	940	c.718A>G	c.(718-720)Agg>Ggg	p.R240G		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	240					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		TCATAAAGCCTTTTTCCAGTG	0.473													4	196					0	0	0.150653	0	0	C	58084554	T	C	58084554	3	2	172	1	0	0	0	0	1	0	0	0	17950	1608	56	3	1070	3	ZNF416	19	58084554	Missense_Mutation	SNP	T	TCGA-HC-7232-01A-11D-2114-08	5812149	58084554	1044429	44	8027											
VPS16	64601	broad.mit.edu	37	chr20	2846119	2846119	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agagaagttttccaagagcaAgaaatcacccattggctacc	15	8	8	10	0	1	3	1	0	0	3	2	4	2	3	3	1	2	3	3	1	5	4			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr20:2846119A>G	ENST00000380445.3	+	22	2321	c.2249A>G	c.(2248-2250)aAg>aGg	p.K750R	VPS16_ENST00000380443.3_Missense_Mutation_p.K436R|PTPRA_ENST00000380393.3_Intron|VPS16_ENST00000380469.3_Missense_Mutation_p.K606R	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	750					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						TCCAAGAGCAAGAAATCACCC	0.562													14	34					0	0	0.500413	0	0	G	2846119	A	G	2846119	3	3	172	1	0	0	0	0	1	0	0	0	17253	72	3	3	2335	3	VPS16	20	2846119	Missense_Mutation	SNP	A	TCGA-HC-7232-01A-11D-2114-08		2846119	60179401	45	8028											
TOX2	84969	broad.mit.edu	37	chr20	42635234	42635234	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaagactatgagatccccccGataacacctcccaacctccc	12	6	5	18	1	0	2	0	1	0	2	3	5	3	2	7	0	2	0	7	0	4	2			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr20:42635234G>A	ENST00000358131.5	+	3	448	c.240G>A	c.(238-240)ccG>ccA	p.P80P	TOX2_ENST00000423191.1_Silent_p.P29P|TOX2_ENST00000372999.1_Silent_p.P29P|TOX2_ENST00000341197.3_Silent_p.P71P	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	80	Required for transcriptional activation (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			AGATCCCCCCGATAACACCTC	0.587													30	72					0	0	0.796494	0	0	A	42635234	G	A	42635234	2	1	172	1	0	0	0	0	0	0	0	1	16439	1045	37	1		1	TOX2	20	42635234	Silent	SNP	G	TCGA-HC-7232-01A-11D-2114-08	39789115	42635234	20390286	46	8029											
SUSD2	56241	broad.mit.edu	37	chr22	24581635	24581635	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	actggctcctgcagcctccgGtacggctcaggtcagcagtg	6	8	13	14	2	2	0	2	0	0	0	4	0	4	0	3	4	4	5	3	4	1	1			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chr22:24581635G>A	ENST00000358321.3	+	8	1338	c.1077G>A	c.(1075-1077)cgG>cgA	p.R359R		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	359	AMOP.				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						GCAGCCTCCGGTACGGCTCAG	0.697													10	24					0	0	0.335167	0	0	A	24581635	G	A	24581635	2	1	172	1	0	0	0	0	0	0	0	1	15464	1248	44	2		2	SUSD2	22	24581635	Silent	SNP	G	TCGA-HC-7232-01A-11D-2114-08		24581635	26722931	47	8030											
STAG2	10735	broad.mit.edu	37	chrX	123179182	123179182	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacaggattgtctgactcaCaagtcagagcatttcgacat	12	12	8	9	1	3	2	2	1	1	1	4	4	3	3	0	1	2	1	0	1	2	3			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chrX:123179182C>G	ENST00000371160.1	+	8	921	c.631C>G	c.(631-633)Caa>Gaa	p.Q211E	STAG2_ENST00000371157.3_Missense_Mutation_p.Q211E|STAG2_ENST00000218089.9_Missense_Mutation_p.Q211E|STAG2_ENST00000371145.3_Missense_Mutation_p.Q211E|STAG2_ENST00000371144.3_Missense_Mutation_p.Q211E|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000354548.5_Missense_Mutation_p.Q142E			Q8N3U4	STAG2_HUMAN	stromal antigen 2	211					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						GTCTGACTCACAAGTCAGAGC	0.353													3	142					0	0	0.150653	0	0	G	123179182	C	G	123179182	3	3	172	1	0	0	0	0	1	0	0	0	15299	479	17	4	653	4	STAG2	23	123179182	Missense_Mutation	SNP	C	TCGA-HC-7232-01A-11D-2114-08		123179182	32091378	48	8031											
MAGEA6	4105	broad.mit.edu	37	chrX	151869994	151869994	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgggaggagctgagtgtgttAgaggtgtttgaggggaggga	8	10	22	1	0	0	3	0	2	0	1	0	7	0	7	0	6	1	3	0	6	1	2			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chrX:151869994A>C	ENST00000329342.5	+	3	909	c.684A>C	c.(682-684)ttA>ttC	p.L228F		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	228	MAGE.						protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TGAGTGTGTTAGAGGTGTTTG	0.527													14	140					0	0	0.575678	0	0	C	151869994	A	C	151869994	3	2	172	1	0	0	0	0	1	0	0	0	9218	417	15	5	686	5	MAGEA6	23	151869994	Missense_Mutation	SNP	A	TCGA-HC-7232-01A-11D-2114-08	28690812	151869994	3400566	49	8032											
F8	2157	broad.mit.edu	37	chrX	154182174	154182174	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgctttactcactgtgcatGatgttggaggcttggaactc	7	14	11	9	0	1	1	1	1	0	0	2	3	1	3	0	3	4	4	0	3	2	4			TCGA-HC-7232-01A-11D-2114-08	TCGA-HC-7232-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b82d7dc1-f6b3-4474-93bd-9bfbefe30139	1c5be2f0-5804-4689-903c-022227fc964e	g.chrX:154182174G>A	ENST00000360256.4	-	12	2096	c.1896C>T	c.(1894-1896)atC>atT	p.I632I		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	632	F5/8 type A 2.|Plastocyanin-like 4.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CACTGTGCATGATGTTGGAGG	0.433													8	142					0	0	0.38729	0	0	A	154182174	G	A	154182174	2	1	172	1	0	0	0	0	0	0	0	1	5378	1280	45	2		2	F8	23	154182174	Silent	SNP	G	TCGA-HC-7232-01A-11D-2114-08	2312180	154182174	1088386	50	8033											
NBPF1	55672	broad.mit.edu	37	chr1	16891388	16891393	+	In_Frame_Del	DEL	CTTCCC	CTTCCC	-																															gatcttcttccccttcttttCttccccttccccttcttttc																										TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr1:16891388_16891393delCTTCCC	ENST00000430580.2	-	28	3972_3977	c.3085_3090delGGGAAG	c.(3085-3090)del	p.GK1029del		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	1026	NBPF 6.|Poly-Glu.					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)		cccttcttttcttccccttccccttc	0.432													7	311	---	---	---	---						-	16891393	CTTCCC	-	16891388	7	5	173	1	0	1	0	1	0	0	0	0	10240	912	32	0	337	0	NBPF1	1	16891388	In_Frame_Del	DEL	CTTCCC	TCGA-HC-7233-01A-11D-2114-08		16891388	232359233	1	8034											
TMEM53	79639	broad.mit.edu	37	chr1	45111052	45111052	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgctgcccagtctggccGgagtgtgagttgcccctctg	3	11	14	13	1	2	1	0	1	2	0	2	2	2	2	4	2	3	2	4	2	0	1			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr1:45111052G>A	ENST00000372242.3	-	4	605	c.538C>T	c.(538-540)Cgg>Tgg	p.R180W	TMEM53_ENST00000372243.3_Missense_Mutation_p.R90W|TMEM53_ENST00000372244.3_Missense_Mutation_p.P49L|RNF220_ENST00000443020.2_Intron|RNF220_ENST00000372247.2_Intron|RNF220_ENST00000361799.2_Intron|RNF220_ENST00000355387.2_Intron|RNF220_ENST00000480686.1_Intron			Q6P2H8	TMM53_HUMAN	transmembrane protein 53	0						integral to membrane		p.R180W(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(3)|ovary(2)|urinary_tract(1)	10	Acute lymphoblastic leukemia(166;0.155)					CAGTCTGGCCGGAGTGTGAGT	0.592													4	31					0	0	0.150653	0	0	A	45111052	G	A	45111052	3	1	173	1	0	0	0	0	1	0	0	0	16239	1131	39	1		1	TMEM53	1	45111052	Missense_Mutation	SNP	G	TCGA-HC-7233-01A-11D-2114-08	28219664	45111052	204139569	2	8035											
AMPD2	271	broad.mit.edu	37	chr1	110171852	110171852	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggaactgcatctcttcttaGagcacgtgagcaggcagcgc	9	8	12	12	3	2	2	0	1	2	1	3	3	2	3	0	2	5	4	0	2	2	2			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr1:110171852G>C	ENST00000256578.3	+	13	2215	c.1855G>C	c.(1855-1857)Gag>Cag	p.E619Q	AMPD2_ENST00000358729.4_Missense_Mutation_p.E544Q|AMPD2_ENST00000528667.1_Missense_Mutation_p.E619Q|RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000393688.3_Missense_Mutation_p.E500Q|AMPD2_ENST00000342115.4_Missense_Mutation_p.E538Q|AMPD2_ENST00000528454.1_Missense_Mutation_p.E501Q|AMPD2_ENST00000526301.1_3'UTR	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	619					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		TCTCTTCTTAGAGCACGTGAG	0.607													3	62					0	0	0.150653	0	0	C	110171852	G	C	110171852	3	2	173	1	0	0	0	0	1	0	0	0	582	943	33	4	1946	4	AMPD2	1	110171852	Missense_Mutation	SNP	G	TCGA-HC-7233-01A-11D-2114-08	65060800	110171852	139078769	3	8036											
TP53BP2	7159	broad.mit.edu	37	chr1	223986246	223986246	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccatggacggaacaactgttGacaactgctgagaacttccg	12	8	10	11	2	0	2	0	2	0	1	1	5	1	4	2	2	5	2	2	2	4	2			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr1:223986246G>A	ENST00000391878.2	-	13	2000	c.1232C>T	c.(1231-1233)tCa>tTa	p.S411L	TP53BP2_ENST00000391879.2_Intron|TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000343537.7_Missense_Mutation_p.S540L	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2	534					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		AACAACTGTTGACAACTGCTG	0.478													4	108					0	0	0.150653	0	0	A	223986246	G	A	223986246	3	1	173	1	0	0	0	0	1	0	0	0	16445	1294	45	2	1813	2	TP53BP2	1	223986246	Missense_Mutation	SNP	G	TCGA-HC-7233-01A-11D-2114-08	113814394	223986246	25264375	4	8037											
NMS	129521	broad.mit.edu	37	chr2	101087006	101087006	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccatctactgcttctgcaTgctacagattccctcctcag	7	12	7	15	0	3	1	1	0	2	1	5	1	5	1	3	1	5	3	3	1	2	4			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr2:101087006T>C	ENST00000376865.1	+	1	63	c.56T>C	c.(55-57)aTg>aCg	p.M19T		NM_001011717.1	NP_001011717.1	Q5H8A3	NMS_HUMAN	neuromedin S	19					neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						TGCTTCTGCATGCTACAGATT	0.537													12	145					0	0	0.411799	0	0	C	101087006	T	C	101087006	3	2	173	1	0	0	0	0	1	0	0	0	10549	1464	51	3	58	3	NMS	2	101087006	Missense_Mutation	SNP	T	TCGA-HC-7233-01A-11D-2114-08		101087006	142112367	5	8038											
CREG2	200407	broad.mit.edu	37	chr2	102003787	102003787	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gtccagctcctcgtccacctCgttggtgacggcccaagaca	7	8	10	16	3	0	2	0	1	0	1	5	2	3	2	5	2	1	2	5	2	1	1			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr2:102003787C>G	ENST00000324768.4	-	1	270	c.133G>C	c.(133-135)Gag>Cag	p.E45Q		NM_153836.3	NP_722578.1	Q8IUH2	CREG2_HUMAN	cellular repressor of E1A-stimulated genes 2	45						extracellular region	FMN binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						TCGTCCACCTCGTTGGTGACG	0.687													2	3					0	0	0.150653	0	0	G	102003787	C	G	102003787	3	3	173	1	0	0	0	0	1	0	0	0	3888	893	31	4	755	4	CREG2	2	102003787	Missense_Mutation	SNP	C	TCGA-HC-7233-01A-11D-2114-08	916781	102003787	141195586	6	8039											
SERPINE2	5270	broad.mit.edu	37	chr2	224849663	224849663	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaatcattgggggcacttgtCgaccctaaagaaatcagaag	15	8	10	8	1	2	2	2	0	0	2	3	3	2	2	1	2	0	1	1	2	5	3			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr2:224849663C>T	ENST00000409840.3	-	6	1350	c.690G>A	c.(688-690)tcG>tcA	p.S230S	SERPINE2_ENST00000447280.2_Silent_p.S242S|SERPINE2_ENST00000409304.1_Silent_p.S230S|SERPINE2_ENST00000258405.4_Silent_p.S230S			P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	230					negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		GGGCACTTGTCGACCCTAAAG	0.498													3	54					0	0	0.115264	0	0	T	224849663	C	T	224849663	2	4	173	1	0	0	0	0	0	0	0	1	14166	871	31	1		1	SERPINE2	2	224849663	Silent	SNP	C	TCGA-HC-7233-01A-11D-2114-08	122845876	224849663	18349710	7	8040											
GPR128	84873	broad.mit.edu	37	chr3	100348538	100348538	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgtacagaagagtggaaagGactgagatgtacaattggta	15	10	13	3	0	0	3	0	1	0	3	0	6	0	5	0	3	2	3	0	3	6	5			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr3:100348538G>T	ENST00000273352.3	+	2	480	c.212G>T	c.(211-213)gGa>gTa	p.G71V		NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	71					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						GAGTGGAAAGGACTGAGATGT	0.388													4	105					5.9392e-07	6.81908e-07	0.217242	1	0	T	100348538	G	T	100348538	3	4	173	1	0	0	0	0	1	0	0	0	6681	1174	41	4	218	4	GPR128	3	100348538	Missense_Mutation	SNP	G	TCGA-HC-7233-01A-11D-2114-08		100348538	97673892	8	8041											
LYAR	55646	broad.mit.edu	37	chr4	4281393	4281393	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattttgcctttttcctgggAacgttgtcaaaagcactaat	11	15	7	8	1	1	0	1	0	0	0	2	1	2	1	2	1	3	2	2	1	5	6			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr4:4281393A>T	ENST00000343470.4	-	5	561	c.321T>A	c.(319-321)gtT>gtA	p.V107V	LYAR_ENST00000452476.1_Silent_p.V107V	NM_017816.2	NP_060286.1	Q9NX58	LYAR_HUMAN	Ly1 antibody reactive	107						nucleolus	metal ion binding|protein binding			endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1)	17				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TTTTCCTGGGAACGTTGTCAA	0.418													11	45					0	0	0.435327	0	0	T	4281393	A	T	4281393	2	4	173	1	0	0	0	0	0	0	0	1	9149	233	9	5		5	LYAR	4	4281393	Silent	SNP	A	TCGA-HC-7233-01A-11D-2114-08		4281393	186872883	9	8042											
WFS1	7466	broad.mit.edu	37	chr4	6302431	6302431	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggagatcaaggagtacctGattgacatggcctccagggc	11	8	13	9	0	1	3	1	2	0	1	2	5	2	4	3	4	1	1	3	4	2	2			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr4:6302431G>A	ENST00000226760.1	+	8	1079	c.909G>A	c.(907-909)ctG>ctA	p.L303L	WFS1_ENST00000503569.1_Silent_p.L303L	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	303					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		AGGAGTACCTGATTGACATGG	0.582													23	48					0	0	0.729181	0	0	A	6302431	G	A	6302431	2	1	173	1	0	0	0	0	0	0	0	1	17420	1277	45	2		2	WFS1	4	6302431	Silent	SNP	G	TCGA-HC-7233-01A-11D-2114-08	2021038	6302431	184851845	10	8043											
ANK2	287	broad.mit.edu	37	chr4	114290838	114290838	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcccatcatacaagaaccCgaagagccctcagagcacag	14	5	7	15	1	3	3	2	0	1	3	4	4	3	3	3	0	4	1	3	0	4	1			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr4:114290838C>T	ENST00000357077.4	+	43	11540	c.11487C>T	c.(11485-11487)ccC>ccT	p.P3829P	ANK2_ENST00000509550.1_Silent_p.P920P|ANK2_ENST00000264366.6_Silent_p.P3796P|ANK2_ENST00000506722.1_Silent_p.P1735P|ANK2_ENST00000510275.2_Silent_p.P396P|ANK2_ENST00000394537.3_Silent_p.P1744P	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3796					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TACAAGAACCCGAAGAGCCCT	0.572													4	36					0	0	0.184627	0	0	T	114290838	C	T	114290838	2	4	173	1	0	0	0	0	0	0	0	1	617	639	23	1		1	ANK2	4	114290838	Silent	SNP	C	TCGA-HC-7233-01A-11D-2114-08	107988407	114290838	76863438	11	8044											
NDST4	64579	broad.mit.edu	37	chr4	115997743	115997743	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tattccacacagtatttttcTaaaagctctcgattccatga	12	15	4	10	1	2	1	0	1	2	0	5	2	4	1	2	0	1	2	2	0	4	7			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr4:115997743T>G	ENST00000264363.2	-	2	1128	c.450A>C	c.(448-450)ttA>ttC	p.L150F		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	150	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		AGTATTTTTCTAAAAGCTCTC	0.343													5	74					0	0	0.184627	0	0	G	115997743	T	G	115997743	3	3	173	1	0	0	0	0	1	0	0	0	10305	1519	53	5	2220	5	NDST4	4	115997743	Missense_Mutation	SNP	T	TCGA-HC-7233-01A-11D-2114-08	1706905	115997743	75156533	12	8045											
PCDH18	54510	broad.mit.edu	37	chr4	138449742	138449742	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgtctcctgcctcactgTcaccacggccactgtctttc	5	12	6	18	1	4	0	2	0	2	0	6	0	4	0	4	1	1	0	4	1	0	1			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr4:138449742T>A	ENST00000344876.4	-	3	3016	c.2630A>T	c.(2629-2631)gAc>gTc	p.D877V	PCDH18_ENST00000507846.1_Missense_Mutation_p.D656V|PCDH18_ENST00000412923.2_Missense_Mutation_p.D876V|PCDH18_ENST00000511115.1_Missense_Mutation_p.D57V|PCDH18_ENST00000510305.1_Missense_Mutation_p.D88V	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	877					brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TGCCTCACTGTCACCACGGCC	0.423													79	288					0	0	0.870114	0	0	A	138449742	T	A	138449742	3	1	173	1	0	0	0	0	1	0	0	0	11560	1667	58	5	785	5	PCDH18	4	138449742	Missense_Mutation	SNP	T	TCGA-HC-7233-01A-11D-2114-08	22451999	138449742	52704534	13	8046											
ERAP2	64167	broad.mit.edu	37	chr5	96245318	96245318	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtattttaagccagtgattgAcaggcaaagctggagtgaca	13	10	12	6	0	0	3	0	3	0	0	0	4	0	4	1	2	2	3	1	2	3	4			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr5:96245318A>T	ENST00000437043.3	+	15	2915	c.2204A>T	c.(2203-2205)gAc>gTc	p.D735V	ERAP2_ENST00000379904.4_Missense_Mutation_p.D690V|CTD-2260A17.2_ENST00000501338.1_Intron	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	735					antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		CCAGTGATTGACAGGCAAAGC	0.488													6	82					0	0	0.307466	0	0	T	96245318	A	T	96245318	3	4	173	1	0	0	0	0	1	0	0	0	5232	275	10	5	2258	5	ERAP2	5	96245318	Missense_Mutation	SNP	A	TCGA-HC-7233-01A-11D-2114-08		96245318	84669942	14	8047											
TRIM36	55521	broad.mit.edu	37	chr5	114466299	114466299	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaaacctaccttggactaaCtgcatcccggggagaacgga	14	6	10	11	2	0	1	0	0	0	1	1	4	1	3	3	4	5	1	3	4	5	3			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr5:114466299C>T	ENST00000513154.1	-	9	2112	c.1786G>A	c.(1786-1788)Gtt>Att	p.V596I	TRIM36_ENST00000282369.3_Missense_Mutation_p.V608I|TRIM36_ENST00000514154.1_Missense_Mutation_p.V453I			Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	608	B30.2/SPRY.					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding	p.A607fs*27(2)		breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		CTTGGACTAACTGCATCCCGG	0.393													22	81					0	0	0.706142	0	0	T	114466299	C	T	114466299	3	4	173	1	0	0	0	0	1	0	0	0	16571	565	20	2	372	2	TRIM36	5	114466299	Missense_Mutation	SNP	C	TCGA-HC-7233-01A-11D-2114-08	18220981	114466299	66448961	15	8048											
CSNK1G3	1456	broad.mit.edu	37	chr5	122926136	122926136	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catatcttcgttatgtaagaAggctagatttttttgaaaaa	14	16	7	4	1	1	3	0	1	1	2	2	3	1	3	0	1	0	3	0	1	7	8			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr5:122926136A>G	ENST00000395412.1	+	9	1593	c.874A>G	c.(874-876)Agg>Ggg	p.R292G	CSNK1G3_ENST00000345990.4_Missense_Mutation_p.R292G|CSNK1G3_ENST00000521364.1_Missense_Mutation_p.R292G|CSNK1G3_ENST00000511130.2_Missense_Mutation_p.R180G|CSNK1G3_ENST00000510842.2_Missense_Mutation_p.R293G|CSNK1G3_ENST00000395411.1_Missense_Mutation_p.R292G|CSNK1G3_ENST00000360683.2_Missense_Mutation_p.R292G|CSNK1G3_ENST00000361991.2_Missense_Mutation_p.R292G|CSNK1G3_ENST00000512718.3_Missense_Mutation_p.R217G	NM_001044723.1	NP_001038188.1	Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3	292	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		TTATGTAAGAAGGCTAGATTT	0.259													3	69					0	0	0.150653	0	0	G	122926136	A	G	122926136	3	3	173	1	0	0	0	0	1	0	0	0	3981	63	3	3	904	3	CSNK1G3	5	122926136	Missense_Mutation	SNP	A	TCGA-HC-7233-01A-11D-2114-08	8459837	122926136	57989124	16	8049											
PAIP2	51247	broad.mit.edu	37	chr5	138700332	138700332	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaggaagaagagcatgaatGgtttattccagctcgagatc	14	9	12	6	1	0	5	0	1	0	4	3	7	1	6	1	2	2	3	1	2	4	3			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr5:138700332G>T	ENST00000394795.2	+	3	1209	c.218G>T	c.(217-219)tGg>tTg	p.W73L	PAIP2_ENST00000265192.4_Missense_Mutation_p.W73L|PAIP2_ENST00000511706.1_Intron|PAIP2_ENST00000510080.1_Missense_Mutation_p.W73L			Q9BPZ3	PAIP2_HUMAN	poly(A) binding protein interacting protein 2	73	PABPC1-interacting motif-1 (PAM1).				negative regulation of translational initiation	cytoplasm	protein binding|translation repressor activity			kidney(1)|large_intestine(2)|lung(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GAGCATGAATGGTTTATTCCA	0.388													3	56					0.115264	0.119106	0.115264	1	0	T	138700332	G	T	138700332	3	4	173	1	0	0	0	0	1	0	0	0	11444	1357	47	4	224	4	PAIP2	5	138700332	Missense_Mutation	SNP	G	TCGA-HC-7233-01A-11D-2114-08	15774196	138700332	42214928	17	8050											
PCDHB2	0	broad.mit.edu	37	chr5	140475283	140475283	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtgcaaaatcgggagaactGcttttaagacagaaactgga	16	8	11	6	1	0	3	0	0	0	3	1	5	0	4	0	2	4	2	0	2	5	2			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr5:140475283G>T	ENST00000194155.4	+	1	1057	c.909G>T	c.(907-909)ctG>ctT	p.L303L		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		303	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGGAGAACTGCTTTTAAGAC	0.398													25	51					5.35356e-11	6.38309e-11	0.639603	1	0	T	140475283	G	T	140475283	2	4	173	1	0	0	0	0	0	0	0	1	11589	1306	46	4		4	PCDHB2	5	140475283	Silent	SNP	G	TCGA-HC-7233-01A-11D-2114-08	1774951	140475283	40439977	18	8051											
GALNT10	55568	broad.mit.edu	37	chr5	153795366	153795366	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcaccttcacctggagagaGgacatccggcctggagaccc	9	7	11	14	1	2	2	2	0	0	2	3	6	3	4	5	4	0	0	5	4	0	2			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr5:153795366G>C	ENST00000297107.6	+	11	1664	c.1527G>C	c.(1525-1527)gaG>gaC	p.E509D	SAP30L-AS1_ENST00000524264.1_RNA|GALNT10_ENST00000377657.3_Missense_Mutation_p.E182D|SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000377661.2_Missense_Mutation_p.E447D	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)	509	Ricin B-type lectin.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			CCTGGAGAGAGGACATCCGGC	0.488													48	150					0	0	0.870114	0	0	C	153795366	G	C	153795366	3	2	173	1	0	0	0	0	1	0	0	0	6248	991	35	4	1569	4	GALNT10	5	153795366	Missense_Mutation	SNP	G	TCGA-HC-7233-01A-11D-2114-08	13320083	153795366	27119894	19	8052											
FOXQ1	94234	broad.mit.edu	37	chr6	1313422	1313422	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttttccgcggcagctacacGggctggcgcaactccgtgcg	5	9	13	14	6	0	0	0	0	0	0	2	0	2	0	2	3	4	4	2	3	2	3			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr6:1313422G>A	ENST00000296839.2	+	1	748	c.483G>A	c.(481-483)acG>acA	p.T161T		NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN	forkhead box Q1	161					DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding			lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		GCAGCTACACGGGCTGGCGCA	0.652													3	55					0	0	0.184627	0	0	A	1313422	G	A	1313422	2	1	173	1	0	0	0	0	0	0	0	1	6064	1103	39	1		1	FOXQ1	6	1313422	Silent	SNP	G	TCGA-HC-7233-01A-11D-2114-08		1313422	169801645	20	8053											
SYNGAP1	8831	broad.mit.edu	37	chr6	33411229	33411229	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaccaccatcaccaccaccGaggtggagagccccctgggg	9	3	11	18	1	1	1	1	0	0	1	1	3	1	1	8	4	1	0	8	4	0	0			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr6:33411229G>A	ENST00000418600.2	+	15	3001	c.2900G>A	c.(2899-2901)cGa>cAa	p.R967Q	SYNGAP1_ENST00000293748.5_Missense_Mutation_p.R967Q|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.R908Q	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	967					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	p.R967Q(1)|p.R952Q(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						caccaccaccGAGGTGGAGAG	0.662													19	128					0	0	0.539581	0	0	A	33411229	G	A	33411229	3	1	173	1	0	0	0	0	1	0	0	0	15504	1058	37	1	2958	1	SYNGAP1	6	33411229	Missense_Mutation	SNP	G	TCGA-HC-7233-01A-11D-2114-08	32097807	33411229	137703838	21	8054											
HUS1	3364	broad.mit.edu	37	chr7	48018175	48018175	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaccctccatttgaaattCgttgaagaagttctcctaag	12	12	7	10	1	1	3	0	2	1	1	4	4	2	3	3	0	0	2	3	0	4	5			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr7:48018175C>A	ENST00000258774.5	-	3	219	c.196G>T	c.(196-198)Gaa>Taa	p.E66*	HUS1_ENST00000432325.1_Nonsense_Mutation_p.E45*	NM_004507.3	NP_004498.1	O60921	HUS1_HUMAN	HUS1 checkpoint homolog (S. pombe)	66					DNA damage checkpoint|DNA replication	Golgi apparatus|nucleolus|nucleoplasm	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|prostate(1)	13		Breast(660;0.00139)				ATTTGAAATTCGTTGAAGAAG	0.438								Direct reversal of damage;Other conserved DNA damage response genes					19	35					5.26018e-13	6.39473e-13	0.608945	1	0	A	48018175	C	A	48018175	4	1	173	1	0	0	0	0	0	1	0	0	7503	893	31	4	670	4	HUS1	7	48018175	Nonsense_Mutation	SNP	C	TCGA-HC-7233-01A-11D-2114-08		48018175	111120488	22	8055											
CSMD3	114788	broad.mit.edu	37	chr8	113317094	113317094	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgggagccattcacaattcGccatcttccatgttccaaga	11	11	7	12	1	2	1	1	0	1	1	5	2	4	2	4	1	1	1	4	1	2	4			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr8:113317094G>A	ENST00000297405.5	-	52	8366	c.8122C>T	c.(8122-8124)Cga>Tga	p.R2708*	CSMD3_ENST00000343508.3_Nonsense_Mutation_p.R2668*|CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.R2638*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2708	Sushi 16.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTCACAATTCGCCATCTTCCA	0.398										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			8	44					0	0	0.38729	0	0	A	113317094	G	A	113317094	4	1	173	1	0	0	0	0	0	1	0	0	3971	1095	38	1	3081	1	CSMD3	8	113317094	Nonsense_Mutation	SNP	G	TCGA-HC-7233-01A-11D-2114-08		113317094	33046928	23	8056											
OC90	729330	broad.mit.edu	37	chr8	133053851	133053851	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcaaagtctcgggggcagaGaccagccacacacttcatac	12	7	9	13	1	3	1	2	0	1	1	4	2	3	1	2	2	2	1	2	2	2	3			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr8:133053851G>C	ENST00000262283.5	-	8	952	c.853C>G	c.(853-855)Ctc>Gtc	p.L285V	OC90_ENST00000443356.2_Missense_Mutation_p.L89V|OC90_ENST00000254627.3_Missense_Mutation_p.L89V|OC90_ENST00000603859.1_Missense_Mutation_p.L89V			Q02509	OC90_HUMAN	otoconin 90	89					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			CGGGGGCAGAGACCAGCCACA	0.527													19	45					0	0	0.639603	0	0	C	133053851	G	C	133053851	3	2	173	1	0	0	0	0	1	0	0	0	10862	942	33	4	1208	4	OC90	8	133053851	Missense_Mutation	SNP	G	TCGA-HC-7233-01A-11D-2114-08	19736757	133053851	13310171	24	8057											
GSN	2934	broad.mit.edu	37	chr9	124064268	124064268	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatggtggtggaacaccccGagttcctcaaggcagggaag	10	6	15	10	1	1	0	1	0	0	0	2	3	2	2	3	5	1	3	3	5	3	1	rs143781307		TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr9:124064268G>T	ENST00000373823.3	+	10	924	c.19G>T	c.(19-21)Gag>Tag	p.E7*	GSN_ENST00000341272.2_Nonsense_Mutation_p.E7*|GSN_ENST00000394353.2_Nonsense_Mutation_p.E18*|GSN_ENST00000449733.1_Nonsense_Mutation_p.E7*|GSN_ENST00000545652.1_Nonsense_Mutation_p.E15*|GSN_ENST00000373818.4_Nonsense_Mutation_p.E58*|GSN_ENST00000373808.2_Nonsense_Mutation_p.E7*|GSN_ENST00000412819.1_Nonsense_Mutation_p.E7*|GSN_ENST00000436847.1_Nonsense_Mutation_p.E18*			P06396	GELS_HUMAN	gelsolin	58					actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						GGAACACCCCGAGTTCCTCAA	0.622													3	94					0.115264	0.119106	0.115264	1	0	T	124064268	G	T	124064268	4	4	173	1	0	0	0	0	0	1	0	0	6866	1059	37	4	206	4	GSN	9	124064268	Nonsense_Mutation	SNP	G	TCGA-HC-7233-01A-11D-2114-08		124064268	17149163	25	8058											
SETX	23064	broad.mit.edu	37	chr9	135203782	135203782	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcaaactgaaaaagagtcTctgtcttttcttcctttact	10	16	4	11	0	4	2	1	1	3	1	6	2	5	2	2	0	2	0	2	0	4	5			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr9:135203782T>C	ENST00000372169.2	-	10	3385	c.3203A>G	c.(3202-3204)gAg>gGg	p.E1068G	SETX_ENST00000224140.5_Missense_Mutation_p.E1068G|SETX_ENST00000393220.1_Missense_Mutation_p.E1068G			Q7Z333	SETX_HUMAN	senataxin	1068					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		AAAAAGAGTCTCTGTCTTTTC	0.373													3	115					0	0	0.115264	0	0	C	135203782	T	C	135203782	3	2	173	1	0	0	0	0	1	0	0	0	14195	1551	54	3	4898	3	SETX	9	135203782	Missense_Mutation	SNP	T	TCGA-HC-7233-01A-11D-2114-08	11139514	135203782	6009649	26	8059											
KCNT1	57582	broad.mit.edu	37	chr9	138656961	138656961	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcgcagacggagaagcacGtggtcctgtgtgtcagctcc	7	8	15	11	3	1	2	1	0	0	2	3	3	3	2	2	2	3	3	2	2	1	0			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr9:138656961G>A	ENST00000298480.5	+	12	1194	c.1120G>A	c.(1120-1122)Gtg>Atg	p.V374M	KCNT1_ENST00000263604.3_Missense_Mutation_p.V355M|KCNT1_ENST00000488444.2_Missense_Mutation_p.V355M|KCNT1_ENST00000487664.1_Missense_Mutation_p.V329M|KCNT1_ENST00000486577.2_Missense_Mutation_p.V335M|KCNT1_ENST00000371757.2_Missense_Mutation_p.V374M|KCNT1_ENST00000491806.2_Missense_Mutation_p.V341M|KCNT1_ENST00000490355.2_Missense_Mutation_p.V355M			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	374						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GGAGAAGCACGTGGTCCTGTG	0.612													4	93					0	0	0.217242	0	0	A	138656961	G	A	138656961	3	1	173	1	0	0	0	0	1	0	0	0	8135	1145	40	1	1166	1	KCNT1	9	138656961	Missense_Mutation	SNP	G	TCGA-HC-7233-01A-11D-2114-08	3453179	138656961	2556470	27	8060											
TRAF2	7186	broad.mit.edu	37	chr9	139793320	139793320	+	Missense_Mutation	SNP	G	G	T																															ctgcagaaacgtcctccgcaGgcccttccaggcgcagtgtg																										TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr9:139793320G>T	ENST00000359662.3	+	2	173	c.128G>T	c.(127-129)aGg>aTg	p.R43M	TRAF2_ENST00000536468.1_Missense_Mutation_p.R43M|TRAF2_ENST00000247668.2_Missense_Mutation_p.R43M			Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	43					activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		GTCCTCCGCAGGCCCTTCCAG	0.667													8	14					0.000157383	0.000174246	0.27861	1	0	T	139793320	G	T	139793320	3	4	173	1	0	0	0	0	1	0	0	0	16499	1000	35	4	130	4	TRAF2	9	139793320	Missense_Mutation	SNP	G	TCGA-HC-7233-01A-11D-2114-08	1136359	139793320	1420111	28	8061	41	2									
TRAF2	7186	broad.mit.edu	37	chr9	139793321	139793321	+	Missense_Mutation	SNP	G	G	T																															tgcagaaacgtcctccgcagGcccttccaggcgcagtgtgg																										TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr9:139793321G>T	ENST00000359662.3	+	2	174	c.129G>T	c.(127-129)agG>agT	p.R43S	TRAF2_ENST00000536468.1_Missense_Mutation_p.R43S|TRAF2_ENST00000247668.2_Missense_Mutation_p.R43S			Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	43					activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		TCCTCCGCAGGCCCTTCCAGG	0.662													7	14					0.00198382	0.00212063	0.248553	1	0	T	139793321	G	T	139793321	3	4	173	1	0	0	0	0	1	0	0	0	16499	1194	42	4	131	4	TRAF2	9	139793321	Missense_Mutation	SNP	G	TCGA-HC-7233-01A-11D-2114-08	1	139793321	1420110	29	8062	41	2									
SLIT1	6585	broad.mit.edu	37	chr10	98764485	98764485	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggggtagctgcctgggtcGtagctgacacgcacatggcc	6	8	15	12	2	0	1	0	1	0	0	1	1	0	1	2	4	3	5	2	4	2	2			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr10:98764485G>A	ENST00000266058.4	-	33	3920	c.3675C>T	c.(3673-3675)taC>taT	p.Y1225Y	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Silent_p.Y1225Y	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1225	Laminin G-like.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TGCCTGGGTCGTAGCTGACAC	0.607													3	59					0	0	0.184627	0	0	A	98764485	G	A	98764485	2	1	173	1	0	0	0	0	0	0	0	1	14793	1140	40	1		1	SLIT1	10	98764485	Silent	SNP	G	TCGA-HC-7233-01A-11D-2114-08		98764485	36770262	30	8063											
ZRANB1	54764	broad.mit.edu	37	chr10	126662280	126662281	+	Frame_Shift_Del	DEL	AA	AA	-																															ggtgcttgatagagacgttcAaaaaggtaagcatggaatta																										TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr10:126662280_126662281delAA	ENST00000359653.4	+	4	1594_1595	c.1223_1224delAA	c.(1222-1224)cfs	p.Q408fs		NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	408	TRAF-binding.				positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		AGAGACGTTCAAAAAGGTAAGC	0.337													19	181	---	---	---	---						-	126662281	AA	-	126662280	7	5	173	1	0	1	0	1	0	0	0	0	18264	130	5	0	1237	0	ZRANB1	10	126662280	Frame_Shift_Del	DEL	AA	TCGA-HC-7233-01A-11D-2114-08	27897795	126662280	8872467	31	8064											
CSTF3	1479	broad.mit.edu	37	chr11	33117876	33117876	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaggtgagaaagatagtcaaTataggccaggacatactctg	15	8	12	6	0	2	2	1	1	1	2	2	5	2	3	1	3	1	0	1	3	6	4			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr11:33117876T>C	ENST00000323959.4	-	15	1490	c.1351A>G	c.(1351-1353)Att>Gtt	p.I451V	TCP11L1_ENST00000324357.9_Intron	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	451					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						AGATAGTCAATATAGGCCAGG	0.338													29	66					0	0	0.812448	0	0	C	33117876	T	C	33117876	3	2	173	1	0	0	0	0	1	0	0	0	4011	1406	49	3	830	3	CSTF3	11	33117876	Missense_Mutation	SNP	T	TCGA-HC-7233-01A-11D-2114-08		33117876	101888640	32	8065											
PHLDB1	23187	broad.mit.edu	37	chr11	118498113	118498113	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacagttccctggtgagcTctattgagaaggacctgcaa	10	9	11	11	0	1	2	0	2	1	1	2	4	2	3	3	2	2	3	3	2	3	3			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr11:118498113T>C	ENST00000361417.2	+	7	985	c.574T>C	c.(574-576)Tct>Cct	p.S192P	PHLDB1_ENST00000356063.5_Missense_Mutation_p.S192P	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	192										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)		CCTGGTGAGCTCTATTGAGAA	0.572													17	49					0	0	0.539581	0	0	C	118498113	T	C	118498113	3	2	173	1	0	0	0	0	1	0	0	0	11899	1551	54	3	592	3	PHLDB1	11	118498113	Missense_Mutation	SNP	T	TCGA-HC-7233-01A-11D-2114-08	85380237	118498113	16508403	33	8066											
GPRC5A	0	broad.mit.edu	37	chr12	13061954	13061954	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccaatggctgggtgttcctGttggcttatgttagtcccga	5	14	13	9	1	0	0	0	0	0	0	2	1	2	0	3	3	0	5	3	3	3	4			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr12:13061954G>A	ENST00000014914.5	+	2	1661	c.771G>A	c.(769-771)ctG>ctA	p.L257L	GPRC5A_ENST00000542056.1_Intron	NM_003979.3	NP_003970.1	Q8NFJ5	RAI3_HUMAN	G protein-coupled receptor, family C, group 5, member A	257						cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)	GGGTGTTCCTGTTGGCTTATG	0.532													11	30					0	0	0.411799	0	0	A	13061954	G	A	13061954	2	1	173	1	0	0	0	0	0	0	0	1	6765	1364	48	2		2	GPRC5A	12	13061954	Silent	SNP	G	TCGA-HC-7233-01A-11D-2114-08		13061954	120789941	34	8067											
KRT84	3890	broad.mit.edu	37	chr12	52774883	52774883	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctgagccttggcgtgctcaAtctctgccttaagcctctgg	5	12	10	14	1	3	1	1	1	2	0	4	1	3	1	4	2	4	1	4	2	2	2			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr12:52774883A>G	ENST00000257951.3	-	6	1250	c.1184T>C	c.(1183-1185)aTt>aCt	p.I395T	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	395	Coil 2.|Rod.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GGCGTGCTCAATCTCTGCCTT	0.562													8	196					0	0	0.335167	0	0	G	52774883	A	G	52774883	3	3	173	1	0	0	0	0	1	0	0	0	8541	101	4	3	634	3	KRT84	12	52774883	Missense_Mutation	SNP	A	TCGA-HC-7233-01A-11D-2114-08	39712929	52774883	81077012	35	8068											
TEP1	7011	broad.mit.edu	37	chr14	20845843	20845843	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggctgagtgccacagagaGggcaggagagagagaaaggg	13	3	20	5	0	0	4	0	1	0	3	0	8	0	5	1	4	1	2	1	4	1	0			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr14:20845843G>A	ENST00000262715.5	-	40	5831	c.5791C>T	c.(5791-5793)Ctc>Ttc	p.L1931F	TEP1_ENST00000556935.1_Missense_Mutation_p.L1823F|TEP1_ENST00000545983.1_Missense_Mutation_p.L269F	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1931					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GCCACAGAGAGGGCAGGAGAG	0.547													3	94					0	0	0.150653	0	0	A	20845843	G	A	20845843	3	1	173	1	0	0	0	0	1	0	0	0	15818	1000	35	2	2156	2	TEP1	14	20845843	Missense_Mutation	SNP	G	TCGA-HC-7233-01A-11D-2114-08		20845843	86503697	36	8069											
RBL2	5934	broad.mit.edu	37	chr16	53485706	53485706	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatggaaatgcacttcagtgTtctaatcgtaaagaacttgt	13	14	8	6	1	2	1	1	0	1	1	3	2	2	2	0	1	2	3	0	1	6	6			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr16:53485706T>C	ENST00000262133.6	+	5	866	c.729T>C	c.(727-729)tgT>tgC	p.C243C	RBL2_ENST00000544545.1_Silent_p.C27C|RBL2_ENST00000379935.4_3'UTR	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	243					cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CACTTCAGTGTTCTAATCGTA	0.378													25	97					0	0	0.654019	0	0	C	53485706	T	C	53485706	2	2	173	1	0	0	0	0	0	0	0	1	13162	1731	60	3		3	RBL2	16	53485706	Silent	SNP	T	TCGA-HC-7233-01A-11D-2114-08		53485706	36869047	37	8070											
GAS2L2	246176	broad.mit.edu	37	chr17	34079565	34079565	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggaaggtacctggctgggcgGccccattgcaggagaccccg	7	5	16	13	2	0	1	0	0	0	1	0	3	0	2	5	6	2	3	5	6	2	2			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr17:34079565G>A	ENST00000254466.6	-	1	332	c.305C>T	c.(304-306)gCc>gTc	p.A102V	GAS2L2_ENST00000587565.1_Missense_Mutation_p.A102V	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	102	CH.				cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGGCTGGGCGGCCCCATTGCA	0.622													4	103					0	0	0.150653	0	0	A	34079565	G	A	34079565	3	1	173	1	0	0	0	0	1	0	0	0	6287	1203	42	2	2361	2	GAS2L2	17	34079565	Missense_Mutation	SNP	G	TCGA-HC-7233-01A-11D-2114-08		34079565	47115645	38	8071											
MYCBPAP	84073	broad.mit.edu	37	chr17	48601102	48601102	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggtcaatctccacgcggtctCcctgacccaggacgtttttg	6	11	10	14	3	3	1	1	1	2	0	5	2	3	2	3	3	0	1	3	3	1	2			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr17:48601102C>T	ENST00000323776.5	+	12	1883	c.1721C>T	c.(1720-1722)tCc>tTc	p.S574F	MYCBPAP_ENST00000436259.2_Missense_Mutation_p.S537F	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	MYCBP associated protein	537					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			CACGCGGTCTCCCTGACCCAG	0.522													19	45					0	0	0.539581	0	0	T	48601102	C	T	48601102	3	4	173	1	0	0	0	0	1	0	0	0	10067	855	30	2	1767	2	MYCBPAP	17	48601102	Missense_Mutation	SNP	C	TCGA-HC-7233-01A-11D-2114-08	14521537	48601102	32594108	39	8072											
BRD4	23476	broad.mit.edu	37	chr19	15375515	15375515	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggcagcgagggtggctcGtgaatggggtcaatggtggt	6	8	22	5	2	1	1	1	1	0	0	2	2	1	1	0	8	1	2	0	8	2	0			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr19:15375515G>T	ENST00000263377.2	-	6	1133	c.912C>A	c.(910-912)caC>caA	p.H304Q	BRD4_ENST00000371835.4_Missense_Mutation_p.H304Q|BRD4_ENST00000360016.5_Missense_Mutation_p.H304Q	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	304					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			AGGGTGGCTCGTGAATGGGGT	0.622			T	C15orf55	lethal midline carcinoma of young people						OREG0025319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	97					0.00024832	0.000270102	0.150653	1	0	T	15375515	G	T	15375515	3	4	173	1	0	0	0	0	1	0	0	0	1506	1136	40	4	3251	4	BRD4	19	15375515	Missense_Mutation	SNP	G	TCGA-HC-7233-01A-11D-2114-08		15375515	43753468	40	8073											
SPTBN4	57731	broad.mit.edu	37	chr19	41007898	41007898	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttctaccactatttctcCaagatgaaggctctggctgt	8	15	7	11	0	4	2	0	1	4	1	5	2	4	2	2	2	1	2	2	2	4	4			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr19:41007898C>T	ENST00000352632.3	+	8	941	c.855C>T	c.(853-855)tcC>tcT	p.S285S	SPTBN4_ENST00000338932.3_Silent_p.S285S|SPTBN4_ENST00000598249.1_Silent_p.S285S|SPTBN4_ENST00000595535.1_Silent_p.S285S|SPTBN4_ENST00000344104.3_Silent_p.S285S			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	285					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACTATTTCTCCAAGATGAAGG	0.537													4	128					0	0	0.150653	0	0	T	41007898	C	T	41007898	2	4	173	1	0	0	0	0	0	0	0	1	15177	581	21	2		2	SPTBN4	19	41007898	Silent	SNP	C	TCGA-HC-7233-01A-11D-2114-08	25632383	41007898	18121085	41	8074											
TMEM143	55260	broad.mit.edu	37	chr19	48848545	48848545	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcctgctcattagacagacGctggggatccgttagtgatg	8	11	12	10	2	1	3	1	1	0	2	3	4	3	4	2	2	1	3	2	2	2	2			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr19:48848545G>A	ENST00000293261.3	-	4	752	c.436C>T	c.(436-438)Cgt>Tgt	p.R146C	TMEM143_ENST00000435956.3_Missense_Mutation_p.R111C|TMEM143_ENST00000436660.2_Intron|TMEM143_ENST00000377431.2_Intron|TMEM143_ENST00000541566.1_Missense_Mutation_p.R36C	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN	transmembrane protein 143	146						integral to membrane|mitochondrion				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		TTAGACAGACGCTGGGGATCC	0.582													8	200					0	0	0.38729	0	0	A	48848545	G	A	48848545	3	1	173	1	0	0	0	0	1	0	0	0	16117	1087	38	1	963	1	TMEM143	19	48848545	Missense_Mutation	SNP	G	TCGA-HC-7233-01A-11D-2114-08	7840647	48848545	10280438	42	8075											
ZSCAN1	284312	broad.mit.edu	37	chr19	58565071	58565071	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaggtgggcggcccttccaGtgtgccgactgtgggatggt	4	9	18	10	3	0	0	0	0	0	0	1	3	1	1	3	5	1	0	3	5	0	1			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr19:58565071G>T	ENST00000282326.1	+	6	1126	c.879G>T	c.(877-879)caG>caT	p.Q293H		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	293					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGCCCTTCCAGTGTGCCGACT	0.642													20	43					3.01185e-09	3.52329e-09	0.667858	1	0	T	58565071	G	T	58565071	3	4	173	1	0	0	0	0	1	0	0	0	18268	1020	36	4	893	4	ZSCAN1	19	58565071	Missense_Mutation	SNP	G	TCGA-HC-7233-01A-11D-2114-08	9716526	58565071	563912	43	8076											
SOX12	6666	broad.mit.edu	37	chr20	306756	306756	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaagatcatggaccagtggcCcgacatgcacaacgccgaga	13	4	12	12	3	1	2	1	0	0	2	1	6	1	3	3	2	2	1	3	2	2	0			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr20:306756C>G	ENST00000342665.2	+	1	518	c.188C>G	c.(187-189)cCc>cGc	p.P63R	SOX12_ENST00000544632.1_Missense_Mutation_p.P63R|RP5-1103G7.4_ENST00000442637.1_RNA	NM_006943.2	NP_008874.2	O15370	SOX12_HUMAN	SRY (sex determining region Y)-box 12	63					cell fate commitment|spinal cord development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|transcription regulatory region sequence-specific DNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		all_cancers(10;0.000331)|Lung NSC(37;0.0496)|all_lung(30;0.0831)|all_epithelial(17;0.0868)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			GACCAGTGGCCCGACATGCAC	0.662													7	20					0	0	0.361761	0	0	G	306756	C	G	306756	3	3	173	1	0	0	0	0	1	0	0	0	14997	623	22	4	190	4	SOX12	20	306756	Missense_Mutation	SNP	C	TCGA-HC-7233-01A-11D-2114-08		306756	62718764	44	8077											
TMEM189	387521	broad.mit.edu	37	chr20	48746131	48746131	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtttagcagcggcagcaGtgtcaccaggcagttgtccc	8	9	12	12	1	1	0	1	0	0	0	2	0	2	0	2	2	3	6	2	2	1	3			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr20:48746131G>C	ENST00000557021.1	-	4	590	c.430C>G	c.(430-432)Ctg>Gtg	p.L144V	TMEM189_ENST00000371652.4_Missense_Mutation_p.L144V|TMEM189_ENST00000371656.2_Missense_Mutation_p.L69V|TMEM189-UBE2V1_ENST00000341698.2_Missense_Mutation_p.L144V|TMEM189_ENST00000371650.5_Missense_Mutation_p.L141V	NM_199203.2	NP_954673.1			transmembrane protein 189											breast(1)|endometrium(2)|large_intestine(3)|lung(2)	8			BRCA - Breast invasive adenocarcinoma(9;3.02e-07)			AGCGGCAGCAGTGTCACCAGG	0.627													20	61					0	0	0.624587	0	0	C	48746131	G	C	48746131	3	2	173	1	0	0	0	0	1	0	0	0	16171	1020	36	4	394	4	TMEM189	20	48746131	Missense_Mutation	SNP	G	TCGA-HC-7233-01A-11D-2114-08	48439375	48746131	14279389	45	8078											
SLMO2	51012	broad.mit.edu	37	chr20	57613627	57613627	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacatcaactccaaccacaCttgggttcatagggtttggg	11	10	9	11	0	2	0	2	0	0	0	3	0	3	0	2	3	2	2	2	3	3	4			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr20:57613627C>G	ENST00000355937.4	-	2	273	c.95G>C	c.(94-96)aGt>aCt	p.S32T	SLMO2_ENST00000371033.5_Missense_Mutation_p.S32T	NM_016045.2	NP_057129.2	Q9Y3B1	SLMO2_HUMAN	slowmo homolog 2 (Drosophila)	32	PRELI/MSF1.									endometrium(1)|lung(2)|skin(2)	5	all_lung(29;0.00711)		Colorectal(105;0.109)			TCCAACCACACTTGGGTTCAT	0.453													4	199					0	0	0.150653	0	0	G	57613627	C	G	57613627	3	3	173	1	0	0	0	0	1	0	0	0	14805	565	20	4	509	4	SLMO2	20	57613627	Missense_Mutation	SNP	C	TCGA-HC-7233-01A-11D-2114-08	8867496	57613627	5411893	46	8079											
BAGE2	85319	broad.mit.edu	37	chr21	11085531	11085533	+	RNA	DEL	AAA	AAA	-																															ccaccaccaccaccaccactAaaaccacgaccaccaccacc																										TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr21:11085531_11085533delAAA	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)		caccaccactaaaaccacgacca	0.596													3	3	---	---	---	---						-	11085533	AAA	-	11085531	6	5	173	0	1	1	0	1	0	0	0	0	1290	377	13	0		0	BAGE2	21	11085531	RNA	DEL	AAA	TCGA-HC-7233-01A-11D-2114-08		11085531	37044364	47	8080											
SRRD	402055	broad.mit.edu	37	chr22	26884138	26884138	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attctatcccaagagagatcTtggtcacaggaacctgccat	12	10	8	11	0	3	2	1	0	2	2	4	4	4	3	3	2	2	0	3	2	3	3			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chr22:26884138T>C	ENST00000215917.6	+	3	408	c.394T>C	c.(394-396)Ttg>Ctg	p.L132L		NM_001013694.2	NP_001013716.2	Q9UH36	SRR1L_HUMAN	SRR1 domain containing	132					rhythmic process					endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						AAGAGAGATCTTGGTCACAGG	0.488													15	51					0	0	0.457914	0	0	C	26884138	T	C	26884138	2	2	173	1	0	0	0	0	0	0	0	1	15223	1606	56	3		3	SRRD	22	26884138	Silent	SNP	T	TCGA-HC-7233-01A-11D-2114-08		26884138	24420428	48	8081											
MAOA	4128	broad.mit.edu	37	chrX	43571169	43571169	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccagtatggaatcccatTgcatatttggattacaataa	14	12	6	9	0	0	0	0	0	0	0	1	2	1	2	3	2	2	2	3	2	6	6			TCGA-HC-7233-01A-11D-2114-08	TCGA-HC-7233-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c9a5dbc-f7f3-43e7-83d1-77b9fb4b8b54	112415c3-8cea-4608-9f55-c5714ac77390	g.chrX:43571169T>A	ENST00000338702.3	+	4	480	c.357T>A	c.(355-357)atT>atA	p.I119I	MAOA_ENST00000497485.1_3'UTR|MAOA_ENST00000542639.1_5'UTR	NM_000240.3	NP_000231.1	P21397	AOFA_HUMAN	monoamine oxidase A	119					behavior|neurotransmitter biosynthetic process|neurotransmitter catabolic process|neurotransmitter secretion|xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	primary amine oxidase activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18					Almotriptan(DB00918)|Carbidopa(DB00190)|Clonazepam(DB01068)|Dopamine(DB00988)|Fluvoxamine(DB00176)|Ginkgo biloba(DB01381)|Imipramine(DB00458)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Linezolid(DB00601)|Lorazepam(DB00186)|Moclobemide(DB01171)|Nicotine(DB00184)|Norepinephrine(DB00368)|Phenelzine(DB00780)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Rasagiline(DB01367)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)	GGAATCCCATTGCATATTTGG	0.368													7	91					0	0	0.307466	0	0	A	43571169	T	A	43571169	2	1	173	1	0	0	0	0	0	0	0	1	9275	1800	63	5		5	MAOA	23	43571169	Silent	SNP	T	TCGA-HC-7233-01A-11D-2114-08		43571169	111699391	49	8082											
KLHDC7A	127707	broad.mit.edu	37	chr1	18809360	18809360	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgttcgccctggcgcacacgGccacggtgcgtgccaaggaa	7	5	14	15	6	0	0	0	0	0	0	1	1	0	1	3	4	2	2	3	4	2	1			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr1:18809360G>A	ENST00000400664.1	+	1	1937	c.1885G>A	c.(1885-1887)Gcc>Acc	p.A629T		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	629						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGCGCACACGGCCACGGTGCG	0.692													11	25					0	0	0.361761	0	0	A	18809360	G	A	18809360	3	1	174	1	0	0	0	0	1	0	0	0	8403	1203	42	2	1887	2	KLHDC7A	1	18809360	Missense_Mutation	SNP	G	TCGA-HC-7736-01A-11D-2114-08		18809360	230441261	1	8083											
DOCK7	85440	broad.mit.edu	37	chr1	63099200	63099216	+	Frame_Shift_Del	DEL	TATGGTTCTGCACACTC	TATGGTTCTGCACACTC	-																															ctgcttctttgaaaatcataTatggttctgcacactctcca																										TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr1:63099200_63099216delTATGGTTCTGCACACTC	ENST00000251157.5	-	10	1102_1118	c.1069_1085delGAGTGTGCAGAACCATA	c.(1069-1086)tfs	p.ECAEPY357fs	DOCK7_ENST00000404627.2_Frame_Shift_Del_p.ECAEPY357fs|DOCK7_ENST00000340370.5_Frame_Shift_Del_p.ECAEPY357fs	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	357					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						GAAAATCATATATGGTTCTGCACACTCTCCAATGTCT	0.364													13	186	---	---	---	---						-	63099216	TATGGTTCTGCACACTC	-	63099200	7	5	174	1	0	1	0	1	0	0	0	0	4719	1406	49	0	5404	0	DOCK7	1	63099200	Frame_Shift_Del	DEL	TATGGTTCTGCACACTC	TCGA-HC-7736-01A-11D-2114-08	44289840	63099200	186151421	2	8084											
ITLN1	55600	broad.mit.edu	37	chr1	160849127	160849127	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgttacatccggtgacccTcattccagcacacaaggcgt	10	9	9	13	2	1	1	1	1	0	0	3	1	3	1	3	2	2	2	3	2	2	2			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr1:160849127T>C	ENST00000326245.3	-	7	878	c.763A>G	c.(763-765)Agg>Ggg	p.R255G	ITLN1_ENST00000487531.1_5'UTR	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	255	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CCGGTGACCCTCATTCCAGCA	0.502													3	129					0	0	0.150653	0	0	C	160849127	T	C	160849127	3	2	174	1	0	0	0	0	1	0	0	0	7954	1550	54	3	186	3	ITLN1	1	160849127	Missense_Mutation	SNP	T	TCGA-HC-7736-01A-11D-2114-08	97749927	160849127	88401494	3	8085											
C1orf95	375057	broad.mit.edu	37	chr1	226736634	226736636	+	In_Frame_Del	DEL	CGG	CGG	-																															ctcgcacaaagacgccgagaCggcggcggcggcggcggcgg																										TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr1:226736634_226736636delCGG	ENST00000366788.3	+	1	134_136	c.29_31delCGG	c.(28-33)acg>a	p.TA10del	C1orf95_ENST00000366789.4_In_Frame_Del_p.TA10del	NM_001003665.3	NP_001003665.1	Q69YW2	CA095_HUMAN	chromosome 1 open reading frame 95	10						integral to membrane				large_intestine(1)|lung(4)|ovary(3)	8	Breast(184;0.133)	Prostate(94;0.0885)		GBM - Glioblastoma multiforme(131;0.113)		GACGCCGAGAcggcggcggcggc	0.783													4	6	---	---	---	---						-	226736636	CGG	-	226736634	7	5	174	1	0	1	0	1	0	0	0	0	2086	536	19	0	31	0	C1orf95	1	226736634	In_Frame_Del	DEL	CGG	TCGA-HC-7736-01A-11D-2114-08	65887507	226736634	22513987	4	8086											
ETAA1	54465	broad.mit.edu	37	chr2	67631946	67631946	+	Frame_Shift_Del	DEL	A	A	-																															atctttgacaaatagctcacAaatagataagccaatgaaga																										TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr2:67631946delA	ENST00000272342.5	+	5	2262	c.2132delA	c.(2131-2133)cafs	p.Q711fs	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	711						cytoplasm|nucleus				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						AATAGCTCACAAATAGATAAG	0.348													16	86	---	---	---	---						-	67631946	A	-	67631946	7	5	174	1	0	1	0	1	0	0	0	0	5295	130	5	0	2150	0	ETAA1	2	67631946	Frame_Shift_Del	DEL	A	TCGA-HC-7736-01A-11D-2114-08		67631946	175567427	5	8087											
DQX1	165545	broad.mit.edu	37	chr2	74750442	74750442	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctctctcactcacacttcGgagctccagtcctgagtcga	7	11	7	16	2	3	1	2	1	2	0	9	3	5	2	2	1	1	1	2	1	0	1			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr2:74750442G>T	ENST00000404568.3	-	5	1258	c.1039C>A	c.(1039-1041)Cga>Aga	p.R347R	DQX1_ENST00000393951.2_Silent_p.R347R	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	347	Helicase C-terminal.					nucleus	ATP binding|helicase activity|nucleic acid binding	p.R229R(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						CTCACACTTCGGAGCTCCAGT	0.547													4	216					0.150653	0.167871	0.150653	1	0	T	74750442	G	T	74750442	2	4	174	1	0	0	0	0	0	0	0	1	4777	1124	39	4		4	DQX1	2	74750442	Silent	SNP	G	TCGA-HC-7736-01A-11D-2114-08	7118496	74750442	168448931	6	8088											
CHL1	10752	broad.mit.edu	37	chr3	439982	439982	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aatagaggtatttgagccggGagctgaacatatagttcgcc	12	10	12	7	2	0	3	0	2	0	1	1	4	0	4	2	2	3	3	2	2	6	6			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr3:439982G>T	ENST00000256509.2	+	25	3809	c.3167G>T	c.(3166-3168)gGa>gTa	p.G1056V	CHL1_ENST00000397491.2_Missense_Mutation_p.G1040V	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	1040					axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TTTGAGCCGGGAGCTGAACAT	0.383													6	63					0.0215528	0.0247223	0.217242	1	0	T	439982	G	T	439982	3	4	174	1	0	0	0	0	1	0	0	0	3371	1174	41	4	3257	4	CHL1	3	439982	Missense_Mutation	SNP	G	TCGA-HC-7736-01A-11D-2114-08		439982	197582448	7	8089											
CPOX	1371	broad.mit.edu	37	chr3	98312096	98312096	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcggtggccagccccaccaAccccgccagcgccgcggcca	6	1	13	21	5	0	0	0	0	0	0	0	0	0	0	9	4	3	0	9	4	1	0			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr3:98312096A>C	ENST00000264193.2	-	1	471	c.253T>G	c.(253-255)Ttg>Gtg	p.L85V		NM_000097.5	NP_000088.3	P36551	HEM6_HUMAN	coproporphyrinogen oxidase	85						mitochondrial intermembrane space	coproporphyrinogen oxidase activity|protein homodimerization activity	p.L85V(1)		endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						AGCCCCACCAACCCCGCCAGC	0.761													6	10					0	0	0.27861	0	0	C	98312096	A	C	98312096	3	2	174	1	0	0	0	0	1	0	0	0	3844	40	2	5	1139	5	CPOX	3	98312096	Missense_Mutation	SNP	A	TCGA-HC-7736-01A-11D-2114-08	97872114	98312096	99710334	8	8090											
MYLK	4638	broad.mit.edu	37	chr3	123419029	123419029	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcttgaaggctggggctgTcccctggctctctgatctct	3	13	12	13	0	2	2	0	2	2	0	5	2	3	2	2	4	1	4	2	4	1	1			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr3:123419029T>C	ENST00000360772.3	-	19	3664	c.3286A>G	c.(3286-3288)Aca>Gca	p.T1096A	MYLK_ENST00000475616.1_Missense_Mutation_p.T1096A|MYLK_ENST00000359169.1_Missense_Mutation_p.T1096A|MYLK_ENST00000360304.3_Missense_Mutation_p.T1096A|MYLK_ENST00000346322.5_Missense_Mutation_p.T1027A			Q15746	MYLK_HUMAN	myosin light chain kinase	1096	Actin-binding (calcium/calmodulin- insensitive) (By similarity).				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GCTGGGGCTGTCCCCTGGCTC	0.517													3	143					0	0	0.115264	0	0	C	123419029	T	C	123419029	3	2	174	1	0	0	0	0	1	0	0	0	10104	1667	58	3	2526	3	MYLK	3	123419029	Missense_Mutation	SNP	T	TCGA-HC-7736-01A-11D-2114-08	25106933	123419029	74603401	9	8091											
RYK	6259	broad.mit.edu	37	chr3	133896849	133896850	+	Frame_Shift_Del	DEL	AT	AT	-																															atttaagattcccccaattcAtgtaaggcaatatcaccatg																										TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr3:133896849_133896850delAT	ENST00000427044.2	-	12	1283_1284	c.673_674delAT	c.(673-675)gfs	p.M225fs	RYK_ENST00000296084.4_Frame_Shift_Del_p.M415fs			P34925	RYK_HUMAN	receptor-like tyrosine kinase	411					corpus callosum development|positive regulation of MAPKKK cascade|Wnt receptor signaling pathway	cytoplasm|integral to plasma membrane|nucleus	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(1)|ovary(3)	4						CCCCCAATTCATGTAAGGCAAT	0.337													13	32	---	---	---	---						-	133896850	AT	-	133896849	7	5	174	1	0	1	0	1	0	0	0	0	13819	217	8	0	602	0	RYK	3	133896849	Frame_Shift_Del	DEL	AT	TCGA-HC-7736-01A-11D-2114-08	10477820	133896849	64125581	10	8092											
SH3TC1	54436	broad.mit.edu	37	chr4	8221109	8221109	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acttccagggctcggggcccGaagagatgaccttccgaggt	8	7	14	12	3	0	2	0	1	0	1	3	5	2	2	4	4	0	1	4	4	1	2	rs141127247		TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr4:8221109G>A	ENST00000539824.1	+	9	1110	c.736G>A	c.(736-738)Gaa>Aaa	p.E246K	SH3TC1_ENST00000245105.3_Missense_Mutation_p.E322K			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	322							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CTCGGGGCCCGAAGAGATGAC	0.677													18	98					0	0	0.557998	0	0	A	8221109	G	A	8221109	3	1	174	1	0	0	0	0	1	0	0	0	14316	1059	37	1	994	1	SH3TC1	4	8221109	Missense_Mutation	SNP	G	TCGA-HC-7736-01A-11D-2114-08		8221109	182933167	11	8093											
FRAS1	80144	broad.mit.edu	37	chr4	79334179	79334179	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agccacatgttcaacatcgcGatcttaccacagacacctga	13	8	6	14	2	2	2	1	1	1	1	3	3	2	2	3	0	3	1	3	0	2	2			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr4:79334179G>A	ENST00000264895.6	+	32	4805	c.4365G>A	c.(4363-4365)gcG>gcA	p.A1455A	FRAS1_ENST00000325942.6_Silent_p.A1455A	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1454					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TCAACATCGCGATCTTACCAC	0.512													15	26					0	0	0.500413	0	0	A	79334179	G	A	79334179	2	1	174	1	0	0	0	0	0	0	0	1	6076	1045	37	1		1	FRAS1	4	79334179	Silent	SNP	G	TCGA-HC-7736-01A-11D-2114-08	71113070	79334179	111820097	12	8094											
PLEKHG4B	153478	broad.mit.edu	37	chr5	163530	163530	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagggcctggaggtaaccAgcactgtagccacagagaag	13	4	14	10	0	0	1	0	0	0	1	0	3	0	2	3	3	3	4	3	3	4	2			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr5:163530A>C	ENST00000283426.6	+	11	2325	c.2275A>C	c.(2275-2277)Agc>Cgc	p.S759R		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	759					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GGAGGTAACCAGCACTGTAGC	0.622													44	82					0	0	0.853193	0	0	C	163530	A	C	163530	3	2	174	1	0	0	0	0	1	0	0	0	12120	188	7	5	2317	5	PLEKHG4B	5	163530	Missense_Mutation	SNP	A	TCGA-HC-7736-01A-11D-2114-08		163530	180751730	13	8095											
SEMA5A	9037	broad.mit.edu	37	chr5	9066709	9066709	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtccagggtgtccagggcGtggtcttcttcagctcagga	5	11	15	10	1	4	0	2	0	2	0	6	1	6	1	2	4	1	1	2	4	0	2			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr5:9066709G>A	ENST00000382496.5	-	17	2788	c.2123C>T	c.(2122-2124)aCg>aTg	p.T708M		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	708	TSP type-1 4.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TGTCCAGGGCGTGGTCTTCTT	0.552													35	88					0	0	0.788014	0	0	A	9066709	G	A	9066709	3	1	174	1	0	0	0	0	1	0	0	0	14091	1145	40	1	1129	1	SEMA5A	5	9066709	Missense_Mutation	SNP	G	TCGA-HC-7736-01A-11D-2114-08	8903179	9066709	171848551	14	8096											
BAI3	577	broad.mit.edu	37	chr6	69348840	69348840	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctggcttatcagtttgaTcatttttcccatgaaaaaat	11	16	5	9	0	2	2	2	2	0	0	4	2	4	2	2	1	0	2	2	1	4	4			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr6:69348840T>A	ENST00000370598.1	+	3	1094	c.273T>A	c.(271-273)gaT>gaA	p.D91E		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	91	CUB.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ATCAGTTTGATCATTTTTCCC	0.338													22	53					0	0	0.639603	0	0	A	69348840	T	A	69348840	3	1	174	1	0	0	0	0	1	0	0	0	1298	1432	50	5	275	5	BAI3	6	69348840	Missense_Mutation	SNP	T	TCGA-HC-7736-01A-11D-2114-08		69348840	101766227	15	8097											
TBP	6908	broad.mit.edu	37	chr6	170871043	170871043	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcaacaGcaacagcagcagcagcagca	16	0	11	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	11	0	0	2	0			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr6:170871043G>A	ENST00000392092.2	+	3	498	c.219G>A	c.(217-219)caG>caA	p.Q73Q	TBP_ENST00000230354.6_Silent_p.Q73Q|TBP_ENST00000540980.1_Silent_p.Q53Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	73	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q73Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcaacagcaacagcagc	0.562													7	41					0	0	0.27861	0	0	A	170871043	G	A	170871043	2	1	174	1	0	0	0	0	0	0	0	1	15704	962	34	2		2	TBP	6	170871043	Silent	SNP	G	TCGA-HC-7736-01A-11D-2114-08	101522203	170871043	244024	16	8098											
PSMA2	5683	broad.mit.edu	37	chr7	42957400	42957400	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagggttaagatggctgtatGaatggcatcttcaagttcca	11	13	11	6	0	2	2	1	1	1	1	3	2	3	2	1	3	0	5	1	3	5	5			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr7:42957400G>C	ENST00000442788.1	-	7	580	c.565C>G	c.(565-567)Cat>Gat	p.H189D	PSMA2_ENST00000445517.1_Missense_Mutation_p.H119D|PSMA2_ENST00000223321.4_Missense_Mutation_p.H189D			P25787	PSA2_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 2	189					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|response to virus|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)	10						ATGGCTGTATGAATGGCATCT	0.279													10	36					0	0	0.479597	0	0	C	42957400	G	C	42957400	3	2	174	1	0	0	0	0	1	0	0	0	12716	1290	45	4	147	4	PSMA2	7	42957400	Missense_Mutation	SNP	G	TCGA-HC-7736-01A-11D-2114-08		42957400	116181263	17	8099											
AGPAT6	137964	broad.mit.edu	37	chr8	41456786	41456786	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggagtctcctttggtatccGcaaactctacatgaaaagtc	11	12	8	10	1	2	1	0	1	2	0	5	2	3	2	2	2	2	2	2	2	5	3			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr8:41456786G>A	ENST00000396987.3	+	2	1055	c.128G>A	c.(127-129)cGc>cAc	p.R43H		NM_178819.3	NP_848934.1	Q86UL3	GPAT4_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 6	43					acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	glycerol-3-phosphate O-acyltransferase activity	p.R43H(2)		endometrium(3)|kidney(2)|large_intestine(3)|lung(6)	14	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)			TTTGGTATCCGCAAACTCTAC	0.433													4	110					0	0	0.150653	0	0	A	41456786	G	A	41456786	3	1	174	1	0	0	0	0	1	0	0	0	388	1087	38	1	130	1	AGPAT6	8	41456786	Missense_Mutation	SNP	G	TCGA-HC-7736-01A-11D-2114-08		41456786	104907236	18	8100											
MAPKAP1	79109	broad.mit.edu	37	chr9	128321994	128321994	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaagtactgaagccaaactTatgaatgggctcattggaat	15	10	9	7	0	1	2	1	2	0	0	1	3	1	3	1	2	3	2	1	2	7	3			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr9:128321994T>G	ENST00000265960.3	-	6	1098	c.766A>C	c.(766-768)Aag>Cag	p.K256Q	MAPKAP1_ENST00000373498.1_Missense_Mutation_p.K256Q|MAPKAP1_ENST00000394060.3_Missense_Mutation_p.K256Q|MAPKAP1_ENST00000373511.2_Missense_Mutation_p.K256Q|MAPKAP1_ENST00000373503.3_Missense_Mutation_p.K64Q|MAPKAP1_ENST00000373497.5_Intron|MAPKAP1_ENST00000350766.3_Missense_Mutation_p.K256Q|MAPKAP1_ENST00000394063.1_Missense_Mutation_p.K64Q	NM_001006617.1	NP_001006618.1	Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1	256					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						AAGCCAAACTTATGAATGGGC	0.473													19	60					0	0	0.557998	0	0	G	128321994	T	G	128321994	3	3	174	1	0	0	0	0	1	0	0	0	9338	1763	61	5	848	5	MAPKAP1	9	128321994	Missense_Mutation	SNP	T	TCGA-HC-7736-01A-11D-2114-08		128321994	12891437	19	8101											
PRTFDC1	56952	broad.mit.edu	37	chr10	25160963	25160963	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaagatcatcgcctccgatTatctgcatctcacccatgga	11	10	7	13	2	3	1	2	0	2	1	6	4	4	2	3	1	1	1	3	1	2	1			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr10:25160963T>C	ENST00000320152.6	-	4	397	c.369A>G	c.(367-369)atA>atG	p.I123M	PRTFDC1_ENST00000376378.1_Missense_Mutation_p.I123M	NM_020200.5	NP_064585.1	Q9NRG1	PRDC1_HUMAN	phosphoribosyl transferase domain containing 1	123					adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP salvage|grooming behavior|hypoxanthine metabolic process|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|purine ribonucleoside salvage|response to amphetamine|striatum development	cytosol	hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9						CGCCTCCGATTATCTGCATCT	0.448													18	244					0	0	0.575678	0	0	C	25160963	T	C	25160963	3	2	174	1	0	0	0	0	1	0	0	0	12686	1744	61	3	332	3	PRTFDC1	10	25160963	Missense_Mutation	SNP	T	TCGA-HC-7736-01A-11D-2114-08		25160963	110373784	20	8102											
PHYHIPL	84457	broad.mit.edu	37	chr10	60994191	60994191	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggattcaaaatcaaaggaTcgcattacacactattttat	16	13	5	7	1	2	0	2	0	0	0	3	2	2	2	0	2	1	1	0	2	6	5			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr10:60994191T>C	ENST00000373880.4	+	2	498	c.234T>C	c.(232-234)gaT>gaC	p.D78D	PHYHIPL_ENST00000373878.3_Silent_p.D52D	NM_032439.3	NP_115815.2	Q96FC7	PHIPL_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein-like	78	Fibronectin type-III.									NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(3)|skin(1)|urinary_tract(1)	18						AATCAAAGGATCGCATTACAC	0.323													31	49					0	0	0.729181	0	0	C	60994191	T	C	60994191	2	2	174	1	0	0	0	0	0	0	0	1	11915	1432	50	3		3	PHYHIPL	10	60994191	Silent	SNP	T	TCGA-HC-7736-01A-11D-2114-08	35833228	60994191	74540556	21	8103											
CDH23	64072	broad.mit.edu	37	chr10	73491778	73491778	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgaactaccgcatcctgtcGggcgcagaggggaagtttga	9	8	15	9	3	0	3	0	2	0	1	2	4	1	4	2	3	2	3	2	3	3	2			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr10:73491778G>A	ENST00000224721.6	+	31	3770	c.3765G>A	c.(3763-3765)tcG>tcA	p.S1255S	C10orf105_ENST00000398786.2_Intron	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1250	Cadherin 12.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GCATCCTGTCGGGCGCAGAGG	0.552													4	28					0	0	0.150653	0	0	A	73491778	G	A	73491778	2	1	174	1	0	0	0	0	0	0	0	1	3130	1103	39	1		1	CDH23	10	73491778	Silent	SNP	G	TCGA-HC-7736-01A-11D-2114-08	12497587	73491778	62042969	22	8104											
NLRX1	79671	broad.mit.edu	37	chr11	119043649	119043649	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagctcggtagatagcgcTcccccacccgggaggcatgg	8	5	15	13	3	0	1	0	0	0	1	2	3	1	3	3	5	2	4	3	5	3	2			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr11:119043649T>C	ENST00000409109.1	+	4	767	c.180T>C	c.(178-180)gcT>gcC	p.A60A	NLRX1_ENST00000525863.1_Silent_p.A60A|NLRX1_ENST00000292199.2_Silent_p.A60A|NLRX1_ENST00000409265.4_Silent_p.A60A|NLRX1_ENST00000409991.1_Silent_p.A60A			Q86UT6	NLRX1_HUMAN	NLR family member X1	60					innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TAGATAGCGCTCCCCCACCCG	0.632													3	84					0	0	0.115264	0	0	C	119043649	T	C	119043649	2	2	174	1	0	0	0	0	0	0	0	1	10532	1538	54	3		3	NLRX1	11	119043649	Silent	SNP	T	TCGA-HC-7736-01A-11D-2114-08		119043649	15962867	23	8105											
PVRL1	5818	broad.mit.edu	37	chr11	119548471	119548471	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccacactgggaggcttcccaTtggctgaggtgcaggtggcc	6	8	15	12	0	0	1	0	1	0	0	1	2	1	2	3	6	1	3	3	6	0	2			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr11:119548471T>C	ENST00000264025.3	-	3	1057	c.527A>G	c.(526-528)aAt>aGt	p.N176S	PVRL1_ENST00000524510.1_5'UTR|PVRL1_ENST00000341398.2_Missense_Mutation_p.N176S|PVRL1_ENST00000340882.2_Missense_Mutation_p.N176S	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	176	Ig-like C2-type 1.				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		AGGCTTCCCATTGGCTGAGGT	0.577													20	21					0	0	0.624587	0	0	C	119548471	T	C	119548471	3	2	174	1	0	0	0	0	1	0	0	0	12891	1493	52	3	1488	3	PVRL1	11	119548471	Missense_Mutation	SNP	T	TCGA-HC-7736-01A-11D-2114-08	504822	119548471	15458045	24	8106											
MFSD5	84975	broad.mit.edu	37	chr12	53646693	53646693	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctggaactgtcaagatgccGggctaaaccccctggaaggg	10	6	14	11	1	1	1	1	0	0	1	1	3	1	3	3	4	3	2	3	4	5	1			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr12:53646693G>C	ENST00000534842.1	+	2	542	c.395G>C	c.(394-396)cGg>cCg	p.R132P	MFSD5_ENST00000329548.4_Missense_Mutation_p.R25P	NM_001170790.1	NP_001164261.1	Q6N075	MFSD5_HUMAN	major facilitator superfamily domain containing 5	25					transport	integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						TCAAGATGCCGGGCTAAACCC	0.597													25	120					0	0	0.639603	0	0	C	53646693	G	C	53646693	3	2	174	1	0	0	0	0	1	0	0	0	9584	1116	39	4	401	4	MFSD5	12	53646693	Missense_Mutation	SNP	G	TCGA-HC-7736-01A-11D-2114-08		53646693	80205202	25	8107											
APBA2	321	broad.mit.edu	37	chr15	29346408	29346408	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccgctactgccctgaggaCgacagctacctagagggcat	10	7	11	13	2	0	2	0	1	0	1	1	4	1	3	3	2	4	3	3	2	3	3			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr15:29346408C>T	ENST00000558402.1	+	5	920	c.321C>T	c.(319-321)gaC>gaT	p.D107D	APBA2_ENST00000561069.1_Silent_p.D107D|APBA2_ENST00000558330.1_Silent_p.D107D|APBA2_ENST00000411764.1_Silent_p.D107D|APBA2_ENST00000558259.1_Silent_p.D107D			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	107					nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GCCCTGAGGACGACAGCTACC	0.602													5	154					0	0	0.184627	0	0	T	29346408	C	T	29346408	2	4	174	1	0	0	0	0	0	0	0	1	753	535	19	1		1	APBA2	15	29346408	Silent	SNP	C	TCGA-HC-7736-01A-11D-2114-08		29346408	73184984	26	8108											
RYR3	6263	broad.mit.edu	37	chr15	33938650	33938650	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aatgccgacatgatctattgCcgcttgagcatgcctgtcga	9	11	10	11	3	1	2	0	2	1	0	2	4	1	2	3	0	4	2	3	0	2	3			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr15:33938650C>T	ENST00000389232.4	+	29	3934	c.3864C>T	c.(3862-3864)tgC>tgT	p.C1288C	RYR3_ENST00000415757.3_Silent_p.C1288C	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1288	4 X approximate repeats.|B30.2/SPRY 3.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGATCTATTGCCGCTTGAGCA	0.537													4	175					0	0	0.150653	0	0	T	33938650	C	T	33938650	2	4	174	1	0	0	0	0	0	0	0	1	13822	747	26	2		2	RYR3	15	33938650	Silent	SNP	C	TCGA-HC-7736-01A-11D-2114-08	4592242	33938650	68592742	27	8109											
ABCC3	8714	broad.mit.edu	37	chr17	48761112	48761112	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gtctgcatgtgcacggtggcGagaaggtacgcgtggggtag	7	8	19	7	4	1	1	0	0	1	1	1	2	1	1	0	5	3	4	0	5	3	2			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr17:48761112G>C	ENST00000285238.8	+	27	4029	c.3949G>C	c.(3949-3951)Gag>Cag	p.E1317Q		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1317	ABC transporter 2.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	GCACGGTGGCGAGAAGGTACG	0.622													37	94					0	0	0.804634	0	0	C	48761112	G	C	48761112	3	2	174	1	0	0	0	0	1	0	0	0	54	1059	37	4	4139	4	ABCC3	17	48761112	Missense_Mutation	SNP	G	TCGA-HC-7736-01A-11D-2114-08		48761112	32434098	28	8110											
PIWIL3	440822	broad.mit.edu	37	chr22	25155922	25155922	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacttcctcctgcagcggcCggggtgtcgactgcaactga	6	8	14	13	3	0	1	0	1	0	0	3	3	2	2	3	4	4	2	3	4	1	1	rs138064276		TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr22:25155922C>T	ENST00000332271.5	-	3	553	c.137G>A	c.(136-138)cGg>cAg	p.R46Q	PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_5'UTR|PIWIL3_ENST00000533313.1_5'UTR	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	46					cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CTGCAGCGGCCGGGGTGTCGA	0.547													116	250					0	0	0.870114	0	0	T	25155922	C	T	25155922	3	4	174	1	0	0	0	0	1	0	0	0	12007	652	23	1	2587	1	PIWIL3	22	25155922	Missense_Mutation	SNP	C	TCGA-HC-7736-01A-11D-2114-08		25155922	26148644	29	8111											
BRD1	23774	broad.mit.edu	37	chr22	50167946	50167946	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctcaggtggttcatggcgcGgtcaaaagcgatccgcacgg	8	7	15	11	5	3	0	3	0	0	0	4	1	4	0	1	5	1	3	1	5	2	1			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chr22:50167946G>A	ENST00000216267.8	-	12	3598	c.3112C>T	c.(3112-3114)Cgc>Tgc	p.R1038C	BRD1_ENST00000542442.1_Missense_Mutation_p.R726C|BRD1_ENST00000342989.5_Missense_Mutation_p.R764C|BRD1_ENST00000457780.2_3'UTR|BRD1_ENST00000404034.1_Missense_Mutation_p.R1038C|BRD1_ENST00000404760.1_Missense_Mutation_p.R1169C	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	1038					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TTCATGGCGCGGTCAAAAGCG	0.577													4	196					0	0	0.150653	0	0	A	50167946	G	A	50167946	3	1	174	1	0	0	0	0	1	0	0	0	1503	1116	39	1	68	1	BRD1	22	50167946	Missense_Mutation	SNP	G	TCGA-HC-7736-01A-11D-2114-08	25012024	50167946	1136620	30	8112											
PFKFB1	5207	broad.mit.edu	37	chrX	54989709	54989709	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cctttagttggtgttcctatCcagttgagatatcgtgtgag	7	16	11	7	1	0	2	0	2	0	1	3	3	2	2	3	1	0	3	3	1	3	7			TCGA-HC-7736-01A-11D-2114-08	TCGA-HC-7736-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a89d72e-a967-40b5-a8eb-0d4ccd8615ce	ecc4491e-2c9a-4a6e-90a1-a0251fcf69aa	g.chrX:54989709C>T	ENST00000375006.3	-	2	274	c.204G>A	c.(202-204)tgG>tgA	p.W68*	PFKFB1_ENST00000374992.2_Nonsense_Mutation_p.W68*|PFKFB1_ENST00000545676.1_Intron	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	68	6-phosphofructo-2-kinase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						GTGTTCCTATCCAGTTGAGAT	0.453													58	51					0	0	0.870114	0	0	T	54989709	C	T	54989709	4	4	174	1	0	0	0	0	0	1	0	0	11808	856	30	2	1263	2	PFKFB1	23	54989709	Nonsense_Mutation	SNP	C	TCGA-HC-7736-01A-11D-2114-08		54989709	100280851	31	8113											
TAGLN2	8407	broad.mit.edu	37	chr1	159889625	159889625	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	attaatgagctcacatagcaCctggatgaggacagcagggg	13	7	13	8	0	1	2	1	2	0	0	1	4	1	4	1	4	3	3	1	4	2	2			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr1:159889625C>T	ENST00000368097.4	-	3	491	c.180_splice	c.e3-1	p.V61_splice	TAGLN2_ENST00000320307.4_Splice_Site_p.V61_splice|TAGLN2_ENST00000478033.1_5'UTR|TAGLN2_ENST00000368096.1_Splice_Site_p.V82_splice	NM_001277223.1|NM_003564.1	NP_001264152.1|NP_003555.1	P37802	TAGL2_HUMAN	transgelin 2	61	CH.				muscle organ development	nuclear membrane|plasma membrane	protein binding			endometrium(1)|large_intestine(2)|lung(6)	9	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCACATAGCACCTGGATGAGG	0.552													29	112					0	0	1	0	0	T	159889625	C	T	159889625	5	4	175	1	0	0	0	0	0	0	1	0	15596	521	18	2	430	2	TAGLN2	1	159889625	Splice_Site	SNP	C	TCGA-HC-7737-01A-11D-2114-08		159889625	89360996	1	8114											
IGSF9	57549	broad.mit.edu	37	chr1	159899709	159899709	+	Frame_Shift_Del	DEL	G	G	-																															gagacgttggccgtgttgctGgggtcgctgacgaagctgcc																										TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr1:159899709delG	ENST00000368094.1	-	16	2318	c.2121delC	c.(2119-2121)ccfs	p.P707fs	IGSF9_ENST00000493195.1_5'UTR|IGSF9_ENST00000361509.3_Frame_Shift_Del_p.P691fs	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	707	Fibronectin type-III 2.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			CCGTGTTGCTGGGGTCGCTGA	0.672													2	4	---	---	---	---						-	159899709	G	-	159899709	7	5	175	1	0	1	0	1	0	0	0	0	7649	1335	47	0	1442	0	IGSF9	1	159899709	Frame_Shift_Del	DEL	G	TCGA-HC-7737-01A-11D-2114-08	10084	159899709	89350912	2	8115											
TMCC2	9911	broad.mit.edu	37	chr1	205240957	205240957	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggaggccgtggagtcctGcctgacccgggtcaccaagc	7	5	15	14	2	1	1	1	1	0	0	2	3	2	3	5	4	2	1	5	4	1	0			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr1:205240957G>T	ENST00000358024.3	+	5	2224	c.1835G>T	c.(1834-1836)tGc>tTc	p.C612F	TMCC2_ENST00000330675.7_Missense_Mutation_p.C387F|TMCC2_ENST00000545499.1_Missense_Mutation_p.C534F|TMCC2_ENST00000329800.7_Missense_Mutation_p.C372F|TMCC2_ENST00000495538.1_3'UTR	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	612						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GTGGAGTCCTGCCTGACCCGG	0.657													3	69					1	1	1	1	0	T	205240957	G	T	205240957	3	4	175	1	0	0	0	0	1	0	0	0	16053	1319	46	4	1853	4	TMCC2	1	205240957	Missense_Mutation	SNP	G	TCGA-HC-7737-01A-11D-2114-08	45341248	205240957	44009664	3	8116											
DIRC1	116093	broad.mit.edu	37	chr2	189599335	189599335	+	Nonstop_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcagcagggcattgtaattAggtaaggcttagttggttta	11	13	13	4	0	0	0	0	0	0	0	0	0	0	0	0	4	2	8	0	4	5	8			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr2:189599335A>G	ENST00000308100.4	-	2	583	c.313T>C	c.(313-315)Taa>Caa	p.*105Q	AC079613.1_ENST00000431708.1_RNA	NM_052952.2	NP_443184.1	Q969H9	DIRC1_HUMAN	disrupted in renal carcinoma 1	0										large_intestine(1)|lung(6)	7			OV - Ovarian serous cystadenocarcinoma(117;0.00842)|Epithelial(96;0.102)			CATTGTAATTAGGTAAGGCTT	0.373													4	118					0	0	1	0	0	G	189599335	A	G	189599335	4	3	175	1	0	0	0	0	0	0	0	0	4561	433	15	3	5	3	DIRC1	2	189599335	Nonstop_Mutation	SNP	A	TCGA-HC-7737-01A-11D-2114-08		189599335	53600038	4	8117											
GABRB1	2560	broad.mit.edu	37	chr4	47408857	47408857	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctttgtaaattacatcttcTttgggaaaggccctcagaaa	12	13	7	9	0	3	1	1	0	2	1	3	2	3	2	2	2	1	1	2	2	5	5			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr4:47408857T>A	ENST00000295454.3	+	8	1286	c.994T>A	c.(994-996)Ttt>Att	p.F332I	GABRB1_ENST00000538619.1_Missense_Mutation_p.F262I	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	332					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(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TTACATCTTCTTTGGGAAAGG	0.393													3	29					0	0	1	0	0	A	47408857	T	A	47408857	3	1	175	1	0	0	0	0	1	0	0	0	6201	1609	56	5	1024	5	GABRB1	4	47408857	Missense_Mutation	SNP	T	TCGA-HC-7737-01A-11D-2114-08		47408857	143745419	5	8118											
FIP1L1	81608	broad.mit.edu	37	chr4	54325595	54325596	+	Frame_Shift_Ins	INS	-	-	G																															cccctgaacaggagagcaccINSgaagctacacctgcagaata																										TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr4:54325595_54325596insG	ENST00000337488.6	+	18	1958_1959	c.1764_1765insG	c.(1762-1767)acaagcfs	p.S589fs	FIP1L1_ENST00000358575.5_Frame_Shift_Ins_p.S583fs|LNX1_ENST00000306888.2_3'UTR|FIP1L1_ENST00000306932.6_Frame_Shift_Ins_p.S515fs|FIP1L1_ENST00000507166.1_Intron	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	589	Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3.				mRNA processing	nucleus	RNA binding			large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			AGGAGAGCACCGAAGCTACACC	0.401			T	PDGFRA	idiopathic hypereosinophilic syndrome								21	162	---	---	---	---						G	54325596	-	G	54325595	7	5	175	1	0	1	1	0	0	0	0	0	5929	639	23	0	1865	0	FIP1L1	4	54325595	Frame_Shift_Ins	INS	-	TCGA-HC-7737-01A-11D-2114-08	6916738	54325595	136828681	6	8119											
PRSS12	8492	broad.mit.edu	37	chr4	119216935	119216935	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttggaggaacatttacctTaaagaatttttcccaccaat	13	15	5	8	0	0	1	0	0	0	1	1	3	1	3	3	2	2	0	3	2	6	7			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr4:119216935T>A	ENST00000296498.3	-	10	2196	c.1914A>T	c.(1912-1914)ttA>ttT	p.L638F	PRSS12_ENST00000510903.1_5'UTR	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	638	Peptidase S1.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						ACATTTACCTTAAAGAATTTT	0.363													5	82					0	0	1	0	0	A	119216935	T	A	119216935	3	1	175	1	0	0	0	0	1	0	0	0	12665	1751	61	5	729	5	PRSS12	4	119216935	Missense_Mutation	SNP	T	TCGA-HC-7737-01A-11D-2114-08	64891340	119216935	71937341	7	8120											
PCDHA5	0	broad.mit.edu	37	chr5	140203081	140203081	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcgagtgggtggcaccggcgGcgcagtgagcgagctggtgc	5	6	20	10	5	0	1	0	1	0	0	1	3	0	1	1	5	3	3	1	5	0	0			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr5:140203081G>T	ENST00000529859.1	+	1	1721	c.1721G>T	c.(1720-1722)gGc>gTc	p.G574V	PCDHA5_ENST00000529619.1_Missense_Mutation_p.G574V|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.G574V	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCACCGGCGGCGCAGTGAGC	0.687													5	65					1.23904e-05	1.36612e-05	1	1	0	T	140203081	G	T	140203081	3	4	175	1	0	0	0	0	1	0	0	0	11574	1203	42	4	1723	4	PCDHA5	5	140203081	Missense_Mutation	SNP	G	TCGA-HC-7737-01A-11D-2114-08		140203081	40712179	8	8121											
PCDHGA4	0	broad.mit.edu	37	chr5	140735010	140735010	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcgccctgaacccgcgcagCggcaccttggtcaccgcggg	5	6	13	17	6	1	1	1	1	0	0	2	1	1	1	4	3	2	2	4	3	1	2			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr5:140735010C>T	ENST00000571252.1	+	1	243	c.243C>T	c.(241-243)agC>agT	p.S81S	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018917.2	NP_061740.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCCGCGCAGCGGCACCTTGG	0.612													3	63					0	0	1	0	0	T	140735010	C	T	140735010	2	4	175	1	0	0	0	0	0	0	0	1	11603	767	27	1		1	PCDHGA4	5	140735010	Silent	SNP	C	TCGA-HC-7737-01A-11D-2114-08	531929	140735010	40180250	9	8122											
FRS3	10817	broad.mit.edu	37	chr6	41738719	41738719	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggcggcccgggtgctggtggGcttctgcagtggggtctcgt	1	10	20	10	3	2	0	0	0	2	0	3	0	2	0	1	7	2	3	1	7	0	1			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr6:41738719G>A	ENST00000373018.3	-	7	1368	c.1117C>T	c.(1117-1119)Ccc>Tcc	p.P373S	FRS3_ENST00000259748.2_Missense_Mutation_p.P373S	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	373					fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GTGCTGGTGGGCTTCTGCAGT	0.662													5	107					0	0	1	0	0	A	41738719	G	A	41738719	3	1	175	1	0	0	0	0	1	0	0	0	6097	1203	42	2	365	2	FRS3	6	41738719	Missense_Mutation	SNP	G	TCGA-HC-7737-01A-11D-2114-08		41738719	129376348	10	8123											
RAPGEF5	9771	broad.mit.edu	37	chr7	22349655	22349655	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccatagatctgcactggacGaaaggacagtgttctagaag	13	8	12	8	1	2	2	0	0	2	2	2	5	2	4	1	2	1	2	1	2	4	3			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr7:22349655G>A	ENST00000405243.1	-	4	527	c.444C>T	c.(442-444)ttC>ttT	p.F148F	RAPGEF5_ENST00000344041.6_5'UTR			Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	0	N-terminal Ras-GEF.				nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						TGCACTGGACGAAAGGACAGT	0.463													3	44					0	0	1	0	0	A	22349655	G	A	22349655	2	1	175	1	0	0	0	0	0	0	0	1	13099	1073	37	1		1	RAPGEF5	7	22349655	Silent	SNP	G	TCGA-HC-7737-01A-11D-2114-08		22349655	136789008	11	8124											
ALKBH4	54784	broad.mit.edu	37	chr7	102098332	102098332	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccagccccgggtagaggcCcatcctccgcaccacctccc	6	5	8	22	2	0	1	0	0	0	1	4	1	4	1	9	2	1	2	9	2	1	1			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr7:102098332C>T	ENST00000292566.3	-	3	457	c.418G>A	c.(418-420)Ggc>Agc	p.G140S		NM_017621.3	NP_060091.1	Q9NXW9	ALKB4_HUMAN	alkB, alkylation repair homolog 4 (E. coli)	140						cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(1)|lung(5)|skin(2)	8						GGGTAGAGGCCCATCCTCCGC	0.652													6	36					0	0	1	0	0	T	102098332	C	T	102098332	3	4	175	1	0	0	0	0	1	0	0	0	525	623	22	2	494	2	ALKBH4	7	102098332	Missense_Mutation	SNP	C	TCGA-HC-7737-01A-11D-2114-08	79748677	102098332	57040331	12	8125											
OR13D1	286365	broad.mit.edu	37	chr9	107456834	107456834	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tactctgccatgactgaattCtttctggtggggctttccca	6	15	9	11	0	3	2	0	2	3	0	4	2	4	2	2	3	2	1	2	3	2	4			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr9:107456834C>G	ENST00000318763.5	+	1	175	c.132C>G	c.(130-132)ttC>ttG	p.F44L		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						TGACTGAATTCTTTCTGGTGG	0.443													10	39					0	0	1	0	0	G	107456834	C	G	107456834	3	3	175	1	0	0	0	0	1	0	0	0	10988	912	32	4	134	4	OR13D1	9	107456834	Missense_Mutation	SNP	C	TCGA-HC-7737-01A-11D-2114-08		107456834	33756597	13	8126											
NUP214	8021	broad.mit.edu	37	chr9	134026129	134026129	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgacttgcatacctttcttTtggagattaaagagaccaca	13	13	7	8	0	1	3	0	1	1	2	1	5	1	3	2	1	2	1	2	1	3	6			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr9:134026129T>G	ENST00000359428.5	+	16	2398	c.2254T>G	c.(2254-2256)Ttg>Gtg	p.L752V	RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.L753V|RP11-544A12.4_ENST00000589540.1_RNA|NUP214_ENST00000411637.2_Missense_Mutation_p.L742V|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000587264.1_RNA			P35658	NU214_HUMAN	nucleoporin 214kDa	752	11 X 5 AA approximate repeats.|Leucine-zipper 1.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TACCTTTCTTTTGGAGATTAA	0.403			T	"DEK, SET, ABL1"	"AML, T-ALL"								5	149					0	0	1	0	0	G	134026129	T	G	134026129	3	3	175	1	0	0	0	0	1	0	0	0	10810	1838	64	5	2316	5	NUP214	9	134026129	Missense_Mutation	SNP	T	TCGA-HC-7737-01A-11D-2114-08	26569295	134026129	7187302	14	8127											
EPC1	80314	broad.mit.edu	37	chr10	32576086	32576086	+	Frame_Shift_Del	DEL	G	G	-																															tgattcagatctttagcattGaagactggcagtgcagcagg																										TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr10:32576086delG	ENST00000319778.6	-	7	1394	c.1092delC	c.(1090-1092)ttfs	p.F364fs	EPC1_ENST00000263062.8_Frame_Shift_Del_p.F364fs|EPC1_ENST00000375110.2_Frame_Shift_Del_p.F314fs	NM_001272004.1|NM_001272019.1	NP_001258933.1|NP_001258948.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	364					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				CTTTAGCATTGAAGACTGGCA	0.463													11	128	---	---	---	---						-	32576086	G	-	32576086	7	5	175	1	0	1	0	1	0	0	0	0	5188	1281	45	0	1454	0	EPC1	10	32576086	Frame_Shift_Del	DEL	G	TCGA-HC-7737-01A-11D-2114-08		32576086	102958661	15	8128											
OR52E2	119678	broad.mit.edu	37	chr11	5080421	5080421	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcacaaacacaccaagaccaAtcacagaaacaaccttgttg	18	6	4	13	0	2	2	2	0	0	2	2	2	2	2	3	0	3	1	3	0	5	2			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr11:5080421A>T	ENST00000321522.2	-	1	436	c.437T>A	c.(436-438)aTt>aAt	p.I146N		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	146					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		ACCAAGACCAATCACAGAAAC	0.463													4	25					0	0	1	0	0	T	5080421	A	T	5080421	3	4	175	1	0	0	0	0	1	0	0	0	11163	101	4	5	543	5	OR52E2	11	5080421	Missense_Mutation	SNP	A	TCGA-HC-7737-01A-11D-2114-08		5080421	129926095	16	8129											
CD163L1	283316	broad.mit.edu	37	chr12	7531609	7531609	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcttccatatttaaatgaCacgcagtctgtttccactcc	9	15	5	12	1	1	1	0	1	1	0	4	1	4	1	3	0	1	3	3	0	3	6			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr12:7531609C>A	ENST00000313599.3	-	9	2393	c.2336G>T	c.(2335-2337)tGt>tTt	p.C779F	CD163L1_ENST00000416109.2_Missense_Mutation_p.C789F|CD163L1_ENST00000544331.1_5'UTR|CD163L1_ENST00000396630.1_Missense_Mutation_p.C779F			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	779	SRCR 7.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						ATTTAAATGACACGCAGTCTG	0.368													3	72					1	1	1	1	0	A	7531609	C	A	7531609	3	1	175	1	0	0	0	0	1	0	0	0	2990	478	17	4	2069	4	CD163L1	12	7531609	Missense_Mutation	SNP	C	TCGA-HC-7737-01A-11D-2114-08		7531609	126320286	17	8130											
H2AFJ	55766	broad.mit.edu	37	chr12	14927441	14927441	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacagggcggcaaagtgcgaGcaaaggccaaatcccgctcc	13	3	12	13	3	0	0	0	0	0	0	2	1	2	0	3	3	3	3	3	3	4	0			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr12:14927441G>A	ENST00000544848.1	+	1	172	c.37G>A	c.(37-39)Gca>Aca	p.A13T		NM_177925.2	NP_808760.1	Q9BTM1	H2AJ_HUMAN	H2A histone family, member J	13					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|central_nervous_system(1)|kidney(1)|ovary(1)|skin(1)	5						CAAAGTGCGAGCAAAGGCCAA	0.652													3	49					0	0	1	0	0	A	14927441	G	A	14927441	3	1	175	1	0	0	0	0	1	0	0	0	6967	971	34	2	39	2	H2AFJ	12	14927441	Missense_Mutation	SNP	G	TCGA-HC-7737-01A-11D-2114-08	7395832	14927441	118924454	18	8131											
EEA1	8411	broad.mit.edu	37	chr12	93247720	93247720	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatcagtcaccaacccatcaGgtttggcctcctcaattaaa	13	10	5	13	0	4	0	4	0	0	0	5	0	5	0	4	2	1	1	4	2	5	2			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr12:93247720G>T	ENST00000322349.8	-	6	641	c.377C>A	c.(376-378)cCt>cAt	p.P126H		NM_003566.3	NP_003557.2	Q15075	EEA1_HUMAN	early endosome antigen 1	126					early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						CAACCCATCAGGTTTGGCCTC	0.294													3	29					1	1	1	1	0	T	93247720	G	T	93247720	3	4	175	1	0	0	0	0	1	0	0	0	4947	1000	35	4	3954	4	EEA1	12	93247720	Missense_Mutation	SNP	G	TCGA-HC-7737-01A-11D-2114-08	78320279	93247720	40604175	19	8132											
GPC5	2262	broad.mit.edu	37	chr13	92101095	92101095	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagatatcagattgcggctCgccaggatatgcagcagttt	11	10	12	8	2	1	2	1	0	0	2	2	4	1	3	1	2	3	4	1	2	2	4			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr13:92101095C>A	ENST00000377067.3	+	2	616	c.244C>A	c.(244-246)Cgc>Agc	p.R82S		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	82						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GATTGCGGCTCGCCAGGATAT	0.428													3	80					1	1	1	1	0	A	92101095	C	A	92101095	3	1	175	1	0	0	0	0	1	0	0	0	6641	884	31	4	250	4	GPC5	13	92101095	Missense_Mutation	SNP	C	TCGA-HC-7737-01A-11D-2114-08		92101095	23068783	20	8133											
FAM181A	90050	broad.mit.edu	37	chr14	94395229	94395229	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaaaggagccgctcaagatgCctggggtctccttggtgggc	8	8	15	10	1	2	1	1	0	1	1	3	2	2	2	3	5	2	1	3	5	3	1			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr14:94395229C>G	ENST00000267594.5	+	3	1091	c.784C>G	c.(784-786)Cct>Gct	p.P262A	FAM181A_ENST00000556222.1_Missense_Mutation_p.P200A|FAM181A_ENST00000557719.1_Missense_Mutation_p.P200A|FAM181A_ENST00000557000.2_Missense_Mutation_p.P200A	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	262										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						GCTCAAGATGCCTGGGGTCTC	0.617													2	13					0	0	1	0	0	G	94395229	C	G	94395229	3	3	175	1	0	0	0	0	1	0	0	0	5539	739	26	4	790	4	FAM181A	14	94395229	Missense_Mutation	SNP	C	TCGA-HC-7737-01A-11D-2114-08		94395229	12954311	21	8134											
AKAP13	11214	broad.mit.edu	37	chr15	86284686	86284686	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagctgcgccgggaggcagAgcggctcagccagcggcaga	8	2	18	13	4	1	2	1	0	0	2	1	3	1	3	2	4	5	5	2	4	0	0			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr15:86284686A>G	ENST00000394518.2	+	35	8113	c.8018A>G	c.(8017-8019)gAg>gGg	p.E2673G	AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Missense_Mutation_p.E2677G|AKAP13_ENST00000394510.2_Missense_Mutation_p.E918G	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2673	Interaction with ESR1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CGGGAGGCAGAGCGGCTCAGC	0.572													5	34					0	0	1	0	0	G	86284686	A	G	86284686	3	3	175	1	0	0	0	0	1	0	0	0	446	304	11	3	8222	3	AKAP13	15	86284686	Missense_Mutation	SNP	A	TCGA-HC-7737-01A-11D-2114-08		86284686	16246706	22	8135											
GTF3C1	2975	broad.mit.edu	37	chr16	27475706	27475706	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgctcttggcctggggaaCtgaactcaccgacaccctct	7	9	10	15	1	3	1	1	1	2	0	3	3	3	2	3	3	3	2	3	3	2	1			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr16:27475706C>A	ENST00000356183.4	-	34	5822	c.5807G>T	c.(5806-5808)aGt>aTt	p.S1936I	GTF3C1_ENST00000561623.1_Intron	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1936						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GCCTGGGGAACTGAACTCACC	0.667													15	89					3.51602e-12	3.97865e-12	1	1	0	A	27475706	C	A	27475706	3	1	175	1	0	0	0	0	1	0	0	0	6913	565	20	4	538	4	GTF3C1	16	27475706	Missense_Mutation	SNP	C	TCGA-HC-7737-01A-11D-2114-08		27475706	62879047	23	8136											
EDC4	23644	broad.mit.edu	37	chr16	67913767	67913769	+	In_Frame_Del	DEL	CAG	CAG	-																															ccccagatcactgcctctccCagcagcagcagcagcggtag																										TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr16:67913767_67913769delCAG	ENST00000358933.5	+	16	2075_2077	c.1836_1838delCAG	c.(1834-1839)ccc>cc	p.PS612del		NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	612	Ser-rich.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		CTGCCTCTCCcagcagcagcagc	0.611													7	68	---	---	---	---						-	67913769	CAG	-	67913767	7	5	175	1	0	1	0	1	0	0	0	0	4934	581	21	0	1898	0	EDC4	16	67913767	In_Frame_Del	DEL	CAG	TCGA-HC-7737-01A-11D-2114-08	40438061	67913767	22440986	24	8137											
ZNF599	148103	broad.mit.edu	37	chr19	35251088	35251088	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcccacttcttgctaaacccTttcccacattccgtgcatgt	7	13	5	16	1	1	0	0	0	1	0	3	0	3	0	4	0	3	2	4	0	2	5			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr19:35251088T>G	ENST00000329285.7	-	4	991	c.618A>C	c.(616-618)aaA>aaC	p.K206N		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	206					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TGCTAAACCCTTTCCCACATT	0.493													6	146					0	0	1	0	0	G	35251088	T	G	35251088	3	3	175	1	0	0	0	0	1	0	0	0	18086	1606	56	5	1152	5	ZNF599	19	35251088	Missense_Mutation	SNP	T	TCGA-HC-7737-01A-11D-2114-08		35251088	23877895	25	8138											
ZNF460	10794	broad.mit.edu	37	chr19	57803368	57803368	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgcgggaaggccttcaacCgcaggtcacccctcacaagg	10	5	12	14	2	3	0	3	0	0	0	3	1	3	1	4	4	2	1	4	4	3	1			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr19:57803368C>T	ENST00000360338.3	+	3	1781	c.1459C>T	c.(1459-1461)Cgc>Tgc	p.R487C	ZNF460_ENST00000537645.1_Missense_Mutation_p.R446C	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	487					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGCCTTCAACCGCAGGTCACC	0.537													20	76					0	0	1	0	0	T	57803368	C	T	57803368	3	4	175	1	0	0	0	0	1	0	0	0	17981	652	23	1	1469	1	ZNF460	19	57803368	Missense_Mutation	SNP	C	TCGA-HC-7737-01A-11D-2114-08	22552280	57803368	1325615	26	8139											
ASCC2	84164	broad.mit.edu	37	chr22	30221102	30221102	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttccttgtgagtggacatgcGgaggaaggtgagaaaaacac	13	8	14	6	1	0	2	0	2	0	1	1	6	1	5	1	4	2	0	1	4	3	2			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr22:30221102G>A	ENST00000397771.2	-	5	562	c.385C>T	c.(385-387)Cgc>Tgc	p.R129C	ASCC2_ENST00000542393.1_Missense_Mutation_p.R76C|ASCC2_ENST00000307790.3_Missense_Mutation_p.R129C			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	129					regulation of transcription, DNA-dependent|transcription, DNA-dependent					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			GTGGACATGCGGAGGAAGGTG	0.572													4	118					0	0	1	0	0	A	30221102	G	A	30221102	3	1	175	1	0	0	0	0	1	0	0	0	1031	1116	39	1	1956	1	ASCC2	22	30221102	Missense_Mutation	SNP	G	TCGA-HC-7737-01A-11D-2114-08		30221102	21083464	27	8140											
MKL1	57591	broad.mit.edu	37	chr22	40816887	40816889	+	In_Frame_Del	DEL	TGC	TGC	-																															ggatggcctggtagttgtggTgctgctgctgctgctggttg																										TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chr22:40816887_40816889delTGC	ENST00000396617.3	-	10	1433_1435	c.843_845delGCA	c.(841-846)cac>ca	p.QH281del	MKL1_ENST00000407029.1_In_Frame_Del_p.QH281del|MKL1_ENST00000402042.1_In_Frame_Del_p.QH231del|MKL1_ENST00000355630.3_In_Frame_Del_p.QH281del			Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	281	Gln-rich.				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GTAGTTGTGGTGCTGCTGCTGCT	0.66			T	RBM15	acute megakaryocytic leukemia								7	86	---	---	---	---						-	40816889	TGC	-	40816887	7	5	175	1	0	1	0	1	0	0	0	0	9649	1696	59	0	1974	0	MKL1	22	40816887	In_Frame_Del	DEL	TGC	TCGA-HC-7737-01A-11D-2114-08	10595785	40816887	10487679	28	8141											
SCML2	10389	broad.mit.edu	37	chrX	18275111	18275111	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaatgatgcactgttcactGgagggagctggatggaatga	12	9	14	6	0	1	2	1	2	0	0	1	6	1	6	0	4	2	3	0	4	2	1			TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chrX:18275111G>A	ENST00000251900.4	-	11	1472	c.1313C>T	c.(1312-1314)cCa>cTa	p.P438L	SCML2_ENST00000398048.3_Missense_Mutation_p.P174L	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	438					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					ACTGTTCACTGGAGGGAGCTG	0.443													3	71					0	0	1	0	0	A	18275111	G	A	18275111	3	1	175	1	0	0	0	0	1	0	0	0	13964	1348	47	2	809	2	SCML2	23	18275111	Missense_Mutation	SNP	G	TCGA-HC-7737-01A-11D-2114-08		18275111	136995449	29	8142											
MAP3K15	389840	broad.mit.edu	37	chrX	19389184	19389185	+	Splice_Site	INS	-	-	A																															cctcaaaattttatttacctINSaaaaaaaaaaaaaataataa																										TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chrX:19389184_19389185insA	ENST00000338883.4	-	24	3294		c.e24-2		MAP3K15_ENST00000469203.2_Splice_Site|MAP3K15_ENST00000359173.3_Splice_Site|MAP3K15_ENST00000518578.1_Splice_Site	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15								ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					tttatttacctaaaaaaaaaaa	0.431													5	9	---	---	---	---						A	19389185	-	A	19389184	8	5	175	1	0	1	1	0	0	0	1	0	9299	1536	53	0	672	0	MAP3K15	23	19389184	Splice_Site	INS	-	TCGA-HC-7737-01A-11D-2114-08	1114073	19389184	135881376	30	8143											
GPC3	2719	broad.mit.edu	37	chrX	133119384	133119386	+	In_Frame_Del	DEL	CGG	CGG	-																															acttggtgacaggtggcgtcCggcggcggcggcgggggctg																										TCGA-HC-7737-01A-11D-2114-08	TCGA-HC-7737-11A-02D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dcf98acc-736b-4af6-bdca-a320a413165a	4adefa84-9ffb-4efe-9a7f-bf1e307f6932	g.chrX:133119384_133119386delCGG	ENST00000370818.3	-	1	536_538	c.91_93delCCG	c.(91-93)del	p.P31del	GPC3_ENST00000543339.1_In_Frame_Del_p.P31del|GPC3_ENST00000394299.2_In_Frame_Del_p.P31del	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	31						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					AGGTGGCGTCCGGCGGCGGCGGC	0.69			"T, D, Mis, N, F, S"			Wilms tumour			Simpson-Golabi-Behmel syndrome				2	4	---	---	---	---						-	133119386	CGG	-	133119384	7	5	175	1	0	1	0	1	0	0	0	0	6639	639	23	0	1754	0	GPC3	23	133119384	In_Frame_Del	DEL	CGG	TCGA-HC-7737-01A-11D-2114-08	113730200	133119384	22151176	31	8144											
GJA8	2703	broad.mit.edu	37	chr1	147380382	147380382	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gggcacgcggtgcactacgtCcgcatggaggagaagcgcaa	10	4	16	11	5	0	1	0	0	0	1	1	3	1	2	1	4	3	4	1	4	3	1			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr1:147380382C>T	ENST00000240986.4	+	2	353	c.300C>T	c.(298-300)gtC>gtT	p.V100V	GJA8_ENST00000369235.1_Silent_p.V100V	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	100					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					TGCACTACGTCCGCATGGAGG	0.657													17	66					0	0	1	0	0	T	147380382	C	T	147380382	2	4	176	1	0	0	0	0	0	0	0	1	6447	842	30	2		2	GJA8	1	147380382	Silent	SNP	C	TCGA-HC-7738-01A-11D-2114-08		147380382	101870239	1	8145											
RPTN	126638	broad.mit.edu	37	chr1	152128689	152128689	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttgtctgtccgtctgacCgtagtgggaactctggcctt	4	14	12	11	2	4	1	0	1	4	0	5	2	5	2	3	2	1	1	3	2	2	3			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr1:152128689C>T	ENST00000316073.3	-	3	950	c.886G>A	c.(886-888)Ggt>Agt	p.G296S		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	296	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TCCGTCTGACCGTAGTGGGAA	0.498													9	616					0	0	1	0	0	T	152128689	C	T	152128689	3	4	176	1	0	0	0	0	1	0	0	0	13716	652	23	1	1472	1	RPTN	1	152128689	Missense_Mutation	SNP	C	TCGA-HC-7738-01A-11D-2114-08	4748307	152128689	97121932	2	8146											
ANGEL2	90806	broad.mit.edu	37	chr1	213186710	213186710	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgcagattctcccacggtGtagtccagtctctgcccaga	7	12	9	13	1	2	2	0	0	2	2	5	2	3	2	3	1	2	2	3	1	1	3			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr1:213186710G>A	ENST00000366962.3	-	2	264	c.110C>T	c.(109-111)aCa>aTa	p.T37I	ANGEL2_ENST00000360506.2_Intron|ANGEL2_ENST00000535388.1_Intron|ANGEL2_ENST00000540642.1_Intron|ANGEL2_ENST00000544555.1_Intron	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	37										central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		CTCCCACGGTGTAGTCCAGTC	0.458													4	141					0	0	1	0	0	A	213186710	G	A	213186710	3	1	176	1	0	0	0	0	1	0	0	0	605	1377	48	2	1556	2	ANGEL2	1	213186710	Missense_Mutation	SNP	G	TCGA-HC-7738-01A-11D-2114-08	61058021	213186710	36063911	3	8147											
FSHR	0	broad.mit.edu	37	chr2	49190030	49190030	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcatttcatagcagccacActtgctcagcagaatgaaga	13	10	8	10	0	2	3	2	1	0	2	2	3	2	3	1	0	5	4	1	0	3	4			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr2:49190030A>G	ENST00000406846.2	-	10	2049	c.1930T>C	c.(1930-1932)Tgt>Cgt	p.C644R	FSHR_ENST00000541117.1_Missense_Mutation_p.C380R|FSHR_ENST00000304421.4_Missense_Mutation_p.C618R|FSHR_ENST00000346173.3_Missense_Mutation_p.C582R	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	644					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TAGCAGCCACACTTGCTCAGC	0.478									Gonadal Dysgenesis, 46 XX				9	45					0	0	1	0	0	G	49190030	A	G	49190030	3	3	176	1	0	0	0	0	1	0	0	0	6108	159	6	3	161	3	FSHR	2	49190030	Missense_Mutation	SNP	A	TCGA-HC-7738-01A-11D-2114-08		49190030	194009343	4	8148											
CCDC104	112942	broad.mit.edu	37	chr2	55746969	55746969	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaagaagacgaggtggagtGggtagtggagagcatcgcgg	12	5	20	4	3	0	4	0	0	0	4	1	7	0	5	0	5	1	2	0	5	3	1			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr2:55746969G>T	ENST00000349456.4	+	1	180	c.32G>T	c.(31-33)tGg>tTg	p.W11L	CCDC104_ENST00000403007.3_Missense_Mutation_p.W11L|CCDC104_ENST00000407816.3_Missense_Mutation_p.W11L|CCDC104_ENST00000406691.3_Missense_Mutation_p.W11L|CCDC104_ENST00000339012.3_Missense_Mutation_p.W11L			Q96G28	CC104_HUMAN	coiled-coil domain containing 104	11										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2)	14			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GAGGTGGAGTGGGTAGTGGAG	0.612													43	94					1.19403e-26	1.3357e-26	1	1	0	T	55746969	G	T	55746969	3	4	176	1	0	0	0	0	1	0	0	0	2757	1357	47	4	34	4	CCDC104	2	55746969	Missense_Mutation	SNP	G	TCGA-HC-7738-01A-11D-2114-08	6556939	55746969	187452404	5	8149											
GPR148	344561	broad.mit.edu	37	chr2	131487419	131487419	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcgttctgttcctctgcaCagctctcattgccaactgtt	5	15	8	13	1	3	0	1	0	3	0	5	0	4	0	2	0	5	5	2	0	1	4			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr2:131487419C>T	ENST00000309926.4	+	1	777	c.695C>T	c.(694-696)aCa>aTa	p.T232I		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	232						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					TTCCTCTGCACAGCTCTCATT	0.572													18	142					0	0	1	0	0	T	131487419	C	T	131487419	3	4	176	1	0	0	0	0	1	0	0	0	6693	478	17	2	697	2	GPR148	2	131487419	Missense_Mutation	SNP	C	TCGA-HC-7738-01A-11D-2114-08	75740450	131487419	111711954	6	8150											
PLA2R1	0	broad.mit.edu	37	chr2	160918876	160918878	+	In_Frame_Del	DEL	CAG	CAG	-																															gcgcagccccgcggcgccccCagcagcagcagcagcagcag																										TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr2:160918876_160918878delCAG	ENST00000283243.7	-	1	243_245	c.37_39delCTG	c.(37-39)del	p.L13del	PLA2R1_ENST00000392771.1_In_Frame_Del_p.L13del	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	13					endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GCGGCGCCCCcagcagcagcagc	0.729													2	4	---	---	---	---						-	160918878	CAG	-	160918876	7	5	176	1	0	1	0	1	0	0	0	0	12058	581	21	0	4480	0	PLA2R1	2	160918876	In_Frame_Del	DEL	CAG	TCGA-HC-7738-01A-11D-2114-08	29431457	160918876	82280497	7	8151											
COL4A4	1286	broad.mit.edu	37	chr2	227896870	227896870	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgctacagcttacctggggGtcctgggggacctttctttc	5	13	12	11	0	1	0	0	0	1	0	3	1	2	1	3	4	4	2	3	4	2	4			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr2:227896870G>A	ENST00000396625.3	-	39	3907	c.3700C>T	c.(3700-3702)Ccc>Tcc	p.P1234S	COL4A4_ENST00000329662.7_Missense_Mutation_p.P1234S	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1234	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TTACCTGGGGGTCCTGGGGGA	0.507													4	104					0	0	1	0	0	A	227896870	G	A	227896870	3	1	176	1	0	0	0	0	1	0	0	0	3716	1261	44	2	1412	2	COL4A4	2	227896870	Missense_Mutation	SNP	G	TCGA-HC-7738-01A-11D-2114-08	66977994	227896870	15302503	8	8152											
BRPF1	7862	broad.mit.edu	37	chr3	9776015	9776015	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actccgcaagcacaagaaaaAggggcgccagtcacgcccag	14	2	11	14	3	1	1	1	0	0	1	2	1	2	1	3	2	1	2	3	2	4	0			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr3:9776015A>G	ENST00000383829.2	+	2	595	c.191A>G	c.(190-192)aAg>aGg	p.K64R	BRPF1_ENST00000302054.3_Missense_Mutation_p.K64R|BRPF1_ENST00000433861.2_Missense_Mutation_p.K64R|BRPF1_ENST00000457855.1_Missense_Mutation_p.K64R|BRPF1_ENST00000424362.1_Missense_Mutation_p.K64R	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	64	Interaction with MYST3 and MYST4.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					CACAAGAAAAAGGGGCGCCAG	0.572													3	172					0	0	1	0	0	G	9776015	A	G	9776015	3	3	176	1	0	0	0	0	1	0	0	0	1522	72	3	3	193	3	BRPF1	3	9776015	Missense_Mutation	SNP	A	TCGA-HC-7738-01A-11D-2114-08		9776015	188246415	9	8153											
NGLY1	55768	broad.mit.edu	37	chr3	25820147	25820147	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaggctgtgtttccaatcCggatggatctatatttttca	11	15	8	7	1	2	0	1	0	1	0	4	2	4	2	2	3	0	2	2	3	5	5			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr3:25820147C>T	ENST00000428257.1	-	2	271	c.164G>A	c.(163-165)cGg>cAg	p.R55Q	NGLY1_ENST00000417874.2_Missense_Mutation_p.R13Q|NGLY1_ENST00000422724.2_5'UTR|NGLY1_ENST00000280700.5_Missense_Mutation_p.R55Q|NGLY1_ENST00000396649.3_Missense_Mutation_p.R55Q	NM_001145293.1	NP_001138765.1	Q96IV0	NGLY1_HUMAN	N-glycanase 1	55	PUB.				glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						GTTTCCAATCCGGATGGATCT	0.338													31	72					0	0	1	0	0	T	25820147	C	T	25820147	3	4	176	1	0	0	0	0	1	0	0	0	10445	652	23	1	1940	1	NGLY1	3	25820147	Missense_Mutation	SNP	C	TCGA-HC-7738-01A-11D-2114-08	16044132	25820147	172202283	10	8154											
VILL	50853	broad.mit.edu	37	chr3	38047428	38047428	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccatgagcctcccaccttcaTtggatggttcttcacttggg	6	13	9	13	0	3	1	2	1	1	0	4	2	4	2	4	3	1	1	4	3	0	5	rs142814627	byFrequency	TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr3:38047428T>C	ENST00000283713.6	+	17	2362	c.2096T>C	c.(2095-2097)aTt>aCt	p.I699T	VILL_ENST00000465644.1_Missense_Mutation_p.I417T|VILL_ENST00000383759.2_Missense_Mutation_p.I699T			O15195	VILL_HUMAN	villin-like	699					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CCCACCTTCATTGGATGGTTC	0.612													47	88					0	0	1	0	0	C	38047428	T	C	38047428	3	2	176	1	0	0	0	0	1	0	0	0	17225	1493	52	3	2158	3	VILL	3	38047428	Missense_Mutation	SNP	T	TCGA-HC-7738-01A-11D-2114-08	12227281	38047428	159975002	11	8155											
CTNNB1	1499	broad.mit.edu	37	chr3	41266124	41266124	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaatccattctggtgccactAccacagctccttctctgagt	8	12	7	14	0	2	1	0	1	2	0	5	2	4	1	4	1	3	1	4	1	2	3	rs121913412		TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr3:41266124A>G	ENST00000349496.5	+	3	401	c.121A>G	c.(121-123)Acc>Gcc	p.T41A	CTNNB1_ENST00000396185.3_Missense_Mutation_p.T41A|CTNNB1_ENST00000453024.1_Missense_Mutation_p.T34A|CTNNB1_ENST00000405570.1_Missense_Mutation_p.T41A|CTNNB1_ENST00000396183.3_Missense_Mutation_p.T41A	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	41			T -> A (in hepatoblastoma and hepatocellular carcinoma; also in a desmoid tumor; strongly reduces phosphorylation and degradation; abolishes phosphorylation on Ser-33 and Ser-37 and enhances transactivation of target genes).|T -> I (in PTR, hepatocellular carcinoma and ovarian cancer).		adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.T41A(550)|p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.T41P(6)|p.Q28_H134del(5)|p.?(4)|p.W25_I140del(3)|p.T41S(3)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.T40_L46del(1)|p.A20_N141del(1)|p.T41_N51del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.I35_T41del(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.A39_T42del(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	TGGTGCCACTACCACAGCTCC	0.507	T41A(CCK81_LARGE_INTESTINE)	15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of				4	40					0	0	1	0	0	G	41266124	A	G	41266124	3	3	176	1	0	0	0	0	1	0	0	0	4040	391	14	3	127	3	CTNNB1	3	41266124	Missense_Mutation	SNP	A	TCGA-HC-7738-01A-11D-2114-08	3218696	41266124	156756306	12	8156											
SLC26A6	65010	broad.mit.edu	37	chr3	48666102	48666102	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagcattggcaaagtacaCggtggccgaggagcggaaga	12	5	15	9	3	1	1	1	0	0	1	1	4	1	3	1	5	3	3	1	5	3	2			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr3:48666102C>T	ENST00000358747.6	-	14	1832	c.1582G>A	c.(1582-1584)Gtg>Atg	p.V528M	SLC26A6_ENST00000383733.3_Missense_Mutation_p.V549M|SLC26A6_ENST00000420764.2_Missense_Mutation_p.V549M|SLC26A6_ENST00000455886.2_Missense_Mutation_p.V513M|SLC26A6_ENST00000395550.2_Missense_Mutation_p.V549M|SLC26A6_ENST00000337000.8_Missense_Mutation_p.V442M	NM_001040454.1	NP_001035544.1			solute carrier family 26 (anion exchanger), member 6										SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		GCAAAGTACACGGTGGCCGAG	0.612													3	68					0	0	1	0	0	T	48666102	C	T	48666102	3	4	176	1	0	0	0	0	1	0	0	0	14576	536	19	1	698	1	SLC26A6	3	48666102	Missense_Mutation	SNP	C	TCGA-HC-7738-01A-11D-2114-08	7399978	48666102	149356328	13	8157											
LMOD3	56203	broad.mit.edu	37	chr3	69168012	69168012	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggttctctggcttccggcatCcgagatttgcgctggattct	4	14	12	11	3	2	1	0	0	2	1	5	3	4	2	2	4	1	4	2	4	0	4			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr3:69168012C>A	ENST00000420581.2	-	2	1673	c.1494G>T	c.(1492-1494)cgG>cgT	p.R498R	LMOD3_ENST00000489031.1_Silent_p.R498R|LMOD3_ENST00000475434.1_Silent_p.R498R	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	498						cytoplasm|cytoskeleton	tropomyosin binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		CTTCCGGCATCCGAGATTTGC	0.537													4	30					0.00909568	0.00972297	1	1	0	A	69168012	C	A	69168012	2	1	176	1	0	0	0	0	0	0	0	1	8899	842	30	4		4	LMOD3	3	69168012	Silent	SNP	C	TCGA-HC-7738-01A-11D-2114-08	20501910	69168012	128854418	14	8158											
HGD	3081	broad.mit.edu	37	chr3	120365112	120365112	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaggcttgtaatgaagatttAccaattggtccaaggtcagg	12	11	12	6	0	1	2	1	1	0	1	2	3	2	2	2	4	1	2	2	4	5	5			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr3:120365112A>G	ENST00000283871.5	-	9	1109		c.e9+1			NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase						L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		ATGAAGATTTACCAATTGGTC	0.453													23	48					0	0	1	0	0	G	120365112	A	G	120365112	5	3	176	1	0	0	0	0	0	0	1	0	7125	405	14	3	710	3	HGD	3	120365112	Splice_Site	SNP	A	TCGA-HC-7738-01A-11D-2114-08	51197100	120365112	77657318	15	8159											
TMCC1	23023	broad.mit.edu	37	chr3	129389968	129389968	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgagcttcaggatcttcTgctgcaggtgagcaatggca	8	11	13	9	0	3	2	1	2	2	0	3	3	3	3	0	3	4	5	0	3	1	2			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr3:129389968T>C	ENST00000393238.3	-	4	1056	c.716A>G	c.(715-717)cAg>cGg	p.Q239R	TMCC1_ENST00000426664.2_Missense_Mutation_p.Q125R|TMCC1_ENST00000329333.5_Missense_Mutation_p.Q60R|TMCC1_ENST00000432054.2_5'UTR	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	239						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CAGGATCTTCTGCTGCAGGTG	0.527													31	178					0	0	1	0	0	C	129389968	T	C	129389968	3	2	176	1	0	0	0	0	1	0	0	0	16052	1580	55	3	1257	3	TMCC1	3	129389968	Missense_Mutation	SNP	T	TCGA-HC-7738-01A-11D-2114-08	9024856	129389968	68632462	16	8160											
MED12L	116931	broad.mit.edu	37	chr3	151067883	151067883	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgaatgtaaccagcgcacaAtccttctctatggagtcggc	11	10	9	11	2	1	1	0	1	1	0	4	2	2	2	2	2	2	2	2	2	4	3			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr3:151067883A>G	ENST00000474524.1	+	15	2220	c.2182A>G	c.(2182-2184)Atc>Gtc	p.I728V	MED12L_ENST00000491549.1_3'UTR|MED12L_ENST00000273432.4_Missense_Mutation_p.I588V|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	728					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCAGCGCACAATCCTTCTCTA	0.423													88	205					0	0	1	0	0	G	151067883	A	G	151067883	3	3	176	1	0	0	0	0	1	0	0	0	9479	101	4	3	2240	3	MED12L	3	151067883	Missense_Mutation	SNP	A	TCGA-HC-7738-01A-11D-2114-08	21677915	151067883	46954547	17	8161											
YEATS2	55689	broad.mit.edu	37	chr3	183479310	183479310	+	Frame_Shift_Del	DEL	T	T	-																															cacagcaggaggattctttgTttgcatctatgccacctctt																										TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr3:183479310delT	ENST00000305135.5	+	14	1867	c.1672delT	c.(1672-1674)ttfs	p.F558fs		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	558					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GGATTCTTTGTTTGCATCTAT	0.388													8	206	---	---	---	---						-	183479310	T	-	183479310	7	5	176	1	0	1	0	1	0	0	0	0	17532	1725	60	0	1722	0	YEATS2	3	183479310	Frame_Shift_Del	DEL	T	TCGA-HC-7738-01A-11D-2114-08	32411427	183479310	14543120	18	8162											
LNX1	84708	broad.mit.edu	37	chr4	54440053	54440053	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcaggcagatgtggcagatGaggtcatcatccacttcctc	9	10	11	11	0	2	3	2	1	0	2	5	3	4	3	2	3	1	3	2	3	0	1			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr4:54440053G>A	ENST00000263925.7	-	2	431	c.117C>T	c.(115-117)ctC>ctT	p.L39L	FIP1L1_ENST00000507166.1_Intron	NM_001126328.2	NP_001119800.1	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	39						cytoplasm	zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TGTGGCAGATGAGGTCATCAT	0.572													17	35					0	0	1	0	0	A	54440053	G	A	54440053	2	1	176	1	0	0	0	0	0	0	0	1	8906	1277	45	2		2	LNX1	4	54440053	Silent	SNP	G	TCGA-HC-7738-01A-11D-2114-08		54440053	136714223	19	8163											
ARHGAP24	83478	broad.mit.edu	37	chr4	86916229	86916229	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctggtaccaaaatgggcacGcacagtgtacagaatggaac	14	7	11	9	1	1	1	0	0	1	1	1	2	1	2	1	3	3	4	1	3	6	2			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr4:86916229G>A	ENST00000395184.1	+	9	1888	c.1422G>A	c.(1420-1422)acG>acA	p.T474T	ARHGAP24_ENST00000395183.2_Silent_p.T379T|ARHGAP24_ENST00000264343.4_Silent_p.T381T	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	474					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding	p.T474T(1)|p.T381T(1)		breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		AAATGGGCACGCACAGTGTAC	0.517													4	105					0	0	1	0	0	A	86916229	G	A	86916229	2	1	176	1	0	0	0	0	0	0	0	1	870	1074	38	1		1	ARHGAP24	4	86916229	Silent	SNP	G	TCGA-HC-7738-01A-11D-2114-08	32476176	86916229	104238047	20	8164											
ELOVL6	79071	broad.mit.edu	37	chr4	110972797	110972797	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccatagttcatagtcatgaaCcaacctcccccggcaaccat	12	8	5	16	1	2	1	2	1	0	0	3	1	3	1	6	1	3	2	6	1	5	3			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr4:110972797C>T	ENST00000394607.3	-	5	658	c.495G>A	c.(493-495)tgG>tgA	p.W165*	ELOVL6_ENST00000302274.3_Nonsense_Mutation_p.W165*			Q9H5J4	ELOV6_HUMAN	ELOVL fatty acid elongase 6	165					fatty acid elongation, saturated fatty acid|long-chain fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process		fatty acid elongase activity|protein binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	8				OV - Ovarian serous cystadenocarcinoma(123;0.00462)		TAGTCATGAACCAACCTCCCC	0.522													18	54					0	0	1	0	0	T	110972797	C	T	110972797	4	4	176	1	0	0	0	0	0	1	0	0	5106	508	18	2	306	2	ELOVL6	4	110972797	Nonsense_Mutation	SNP	C	TCGA-HC-7738-01A-11D-2114-08	24056568	110972797	80181479	21	8165											
OTUD4	54726	broad.mit.edu	37	chr4	146077123	146077125	+	In_Frame_Del	DEL	CAG	CAG	-																															aggtttaaatccattcacatCagcagcagcagcagcagtct																										TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr4:146077123_146077125delCAG	ENST00000454497.2	-	8	595_597	c.458_460delCTG	c.(457-462)gat>g	p.AD153del	OTUD4_ENST00000447906.2_In_Frame_Del_p.AD218del|OTUD4_ENST00000455611.2_5'UTR	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	218	OTU.						protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CCATTCACATCAGCAGCAGCAGC	0.34													9	106	---	---	---	---						-	146077125	CAG	-	146077123	7	5	176	1	0	1	0	1	0	0	0	0	11361	826	29	0	2745	0	OTUD4	4	146077123	In_Frame_Del	DEL	CAG	TCGA-HC-7738-01A-11D-2114-08	35104326	146077123	45077153	22	8166											
DNAJC21	134218	broad.mit.edu	37	chr5	34954743	34954743	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctaaaggccacaggtcatgCaagagcaccttcatcatcgt	12	9	8	12	1	4	1	3	0	1	1	5	1	4	1	2	2	2	2	2	2	3	2			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr5:34954743C>G	ENST00000382021.2	+	13	1882	c.1655C>G	c.(1654-1656)gCa>gGa	p.A552G	DNAJC21_ENST00000303525.7_Missense_Mutation_p.A520G|DNAJC21_ENST00000342382.4_Missense_Mutation_p.A507G	NM_194283.3	NP_919259.3	Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	507					protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			ACAGGTCATGCAAGAGCACCT	0.408													12	75					0	0	1	0	0	G	34954743	C	G	34954743	3	3	176	1	0	0	0	0	1	0	0	0	4667	710	25	4	1705	4	DNAJC21	5	34954743	Missense_Mutation	SNP	C	TCGA-HC-7738-01A-11D-2114-08		34954743	145960517	23	8167											
IL7R	3575	broad.mit.edu	37	chr5	35876450	35876450	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgggactacaaacagcacGctgccccctccattttctct	8	11	6	16	1	1	0	0	0	1	0	3	1	2	1	3	1	4	2	3	1	2	4			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr5:35876450G>C	ENST00000303115.3	+	8	1371	c.1242G>C	c.(1240-1242)acG>acC	p.T414T	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	414			T -> M (in dbSNP:rs2229232).		immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			CAAACAGCACGCTGCCCCCTC	0.522			"Mis, O"		"ALL, ETP ALL"		Severe combined immune deficiency						3	69					0	0	1	0	0	C	35876450	G	C	35876450	2	2	176	1	0	0	0	0	0	0	0	1	7749	1074	38	4		4	IL7R	5	35876450	Silent	SNP	G	TCGA-HC-7738-01A-11D-2114-08	921707	35876450	145038810	24	8168											
HCN1	348980	broad.mit.edu	37	chr5	45645595	45645595	+	Missense_Mutation	SNP	C	C	A																															taggaaaactgtatctgatgCcacattgaaaataatccatg																										TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr5:45645595C>A	ENST00000303230.4	-	2	598	c.541G>T	c.(541-543)Gca>Tca	p.A181S		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	181						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GTATCTGATGCCACATTGAAA	0.373													19	61					1.90627e-21	2.09689e-21	1	1	0	A	45645595	C	A	45645595	3	1	176	1	0	0	0	0	1	0	0	0	7037	739	26	4	2159	4	HCN1	5	45645595	Missense_Mutation	SNP	C	TCGA-HC-7738-01A-11D-2114-08	9769145	45645595	135269665	25	8169	42	2									
HCN1	348980	broad.mit.edu	37	chr5	45645596	45645596	+	Silent	SNP	C	C	T																															aggaaaactgtatctgatgcCacattgaaaataatccatgg																										TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr5:45645596C>T	ENST00000303230.4	-	2	597	c.540G>A	c.(538-540)gtG>gtA	p.V180V		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	180						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TATCTGATGCCACATTGAAAA	0.373													18	62					0	0	1	0	0	T	45645596	C	T	45645596	2	4	176	1	0	0	0	0	0	0	0	1	7037	581	21	2		2	HCN1	5	45645596	Silent	SNP	C	TCGA-HC-7738-01A-11D-2114-08	1	45645596	135269664	26	8170	42	2									
IL4	3565	broad.mit.edu	37	chr5	132010172	132010172	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctgtgcaccgagttgaccGtaacagacatctttgctgcc	8	11	9	13	2	2	2	0	1	2	1	2	3	2	2	3	0	4	4	3	0	1	3	rs56279116		TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr5:132010172G>A	ENST00000231449.2	+	2	222	c.157G>A	c.(157-159)Gta>Ata	p.V53I	IL4_ENST00000495905.1_3'UTR|IL4_ENST00000350025.2_Intron	NM_000589.3	NP_000580.1	P05112	IL4_HUMAN	interleukin 4	53					B cell differentiation|cellular defense response|chemotaxis|cholesterol metabolic process|connective tissue growth factor biosynthetic process|negative regulation of apoptosis|negative regulation of osteoclast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of interleukin-13 production|positive regulation of isotype switching to IgE isotypes|positive regulation of isotype switching to IgG isotypes|positive regulation of MHC class II biosynthetic process|positive regulation of T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|T-helper 2 cell cytokine production	extracellular space	cytokine activity|growth factor activity|interleukin-4 receptor binding			NS(1)|large_intestine(3)|lung(3)|prostate(1)	8		all_cancers(142;2.81e-05)|all_lung(232;1.47e-05)|Lung NSC(810;2.31e-05)|all_neural(839;0.0459)|Ovarian(839;0.0481)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.00245)		CGAGTTGACCGTAACAGACAT	0.498													3	101					0	0	1	0	0	A	132010172	G	A	132010172	3	1	176	1	0	0	0	0	1	0	0	0	7740	1145	40	1	163	1	IL4	5	132010172	Missense_Mutation	SNP	G	TCGA-HC-7738-01A-11D-2114-08	86364576	132010172	48905088	27	8171											
FBXO38	81545	broad.mit.edu	37	chr5	147781990	147781990	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcatattttggggaaatttcGtaatcgtaatggagcttttc	10	17	9	5	2	1	0	1	0	0	0	4	2	1	2	0	3	1	3	0	3	4	8			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr5:147781990G>A	ENST00000340253.5	+	5	674	c.506G>A	c.(505-507)cGt>cAt	p.R169H	FBXO38_ENST00000394370.3_Missense_Mutation_p.R169H|FBXO38_ENST00000296701.6_Missense_Mutation_p.R169H|FBXO38_ENST00000513826.1_Missense_Mutation_p.R169H|FBXO38_ENST00000509699.2_3'UTR			Q6PIJ6	FBX38_HUMAN	F-box protein 38	169						cytoplasm|nucleus		p.R169H(1)	ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGAAATTTCGTAATCGTAAT	0.353													4	78					0	0	1	0	0	A	147781990	G	A	147781990	3	1	176	1	0	0	0	0	1	0	0	0	5779	1145	40	1	520	1	FBXO38	5	147781990	Missense_Mutation	SNP	G	TCGA-HC-7738-01A-11D-2114-08	15771818	147781990	33133270	28	8172											
PCYOX1L	78991	broad.mit.edu	37	chr5	148747813	148747813	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcccctttgccaacatccttAccacagatttccccagcttc	8	12	3	18	0	0	1	0	0	0	1	4	1	3	1	7	0	4	1	7	0	2	4			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	ef449499-0238-4585-afc7-fd792d26fe32	g.chr5:148747813A>G	ENST00000514349.1	+	5	1390	c.811A>G	c.(811-813)Acc>Gcc	p.T271A	PCYOX1L_ENST00000274569.4_Missense_Mutation_p.T361A			Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	361					prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACATCCTTACCACAGATTT	0.557											OREG0016912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	207					0	0	1	0	0	G	148747813	A	G	148747813	3	3	176	1	0	0	0	0	1	0	0	0	11656	391	14	3	1103	3	PCYOX1L	5	148747813	Missense_Mutation	SNP	A	TCGA-HC-7738-01A-11D-2114-08	965823	148747813	32167447	29	8173											
UHRF1BP1	54887	broad.mit.edu	37	chr6	34839640	34839640	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagtacttaaaagtgagAagagacagcccccaaaagaa	19	5	9	8	0	0	4	0	2	0	3	0	6	0	4	2	0	2	1	2	0	8	2			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr6:34839640A>C	ENST00000192788.5	+	20	4306	c.4135A>C	c.(4135-4137)Aag>Cag	p.K1379Q	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.K1379Q	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	1379										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TAAAAGTGAGAAGAGACAGCC	0.468													5	40					0	0	1	0	0	C	34839640	A	C	34839640	3	2	176	1	0	0	0	0	1	0	0	0	17028	247	9	5	4213	5	UHRF1BP1	6	34839640	Missense_Mutation	SNP	A	TCGA-HC-7738-01A-11D-2114-08		34839640	136275427	30	8174											
SOBP	55084	broad.mit.edu	37	chr6	107954878	107954878	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttccagctgggctgtgcaGcacattacaccctcccatgg	7	10	9	15	0	1	0	0	0	1	0	3	0	3	0	3	2	4	4	3	2	1	2			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr6:107954878G>A	ENST00000317357.5	+	6	1489	c.830G>A	c.(829-831)aGc>aAc	p.S277N		NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog (Drosophila)	277							metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		GGGCTGTGCAGCACATTACAC	0.488													3	85					0	0	1	0	0	A	107954878	G	A	107954878	3	1	176	1	0	0	0	0	1	0	0	0	14966	971	34	2	852	2	SOBP	6	107954878	Missense_Mutation	SNP	G	TCGA-HC-7738-01A-11D-2114-08	73115238	107954878	63160189	31	8175											
KCNB2	9312	broad.mit.edu	37	chr8	73480145	73480145	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggacaggctgcccaggaCgcgcctggggaagcttcgag	7	5	17	12	3	0	0	0	0	0	0	1	4	0	3	2	5	2	3	2	5	1	1			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr8:73480145C>T	ENST00000523207.1	+	2	764	c.176C>T	c.(175-177)aCg>aTg	p.T59M		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	59					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CTGCCCAGGACGCGCCTGGGG	0.537													27	74					0	0	1	0	0	T	73480145	C	T	73480145	3	4	176	1	0	0	0	0	1	0	0	0	8057	536	19	1	178	1	KCNB2	8	73480145	Missense_Mutation	SNP	C	TCGA-HC-7738-01A-11D-2114-08		73480145	72883877	32	8176											
PLEC	5339	broad.mit.edu	37	chr8	144998994	144998994	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgctgcgcggtgccttcCgccagctgccgctgcttctc	1	10	12	18	5	1	0	0	0	1	0	3	0	2	0	4	1	6	5	4	1	0	2			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr8:144998994C>T	ENST00000322810.4	-	31	5683	c.5514G>A	c.(5512-5514)gcG>gcA	p.A1838A	PLEC_ENST00000345136.3_Silent_p.A1701A|PLEC_ENST00000527096.1_Silent_p.A1724A|PLEC_ENST00000354958.2_Silent_p.A1679A|PLEC_ENST00000398774.2_Silent_p.A1669A|PLEC_ENST00000354589.3_Silent_p.A1701A|PLEC_ENST00000436759.2_Silent_p.A1728A|PLEC_ENST00000356346.3_Silent_p.A1687A|PLEC_ENST00000357649.2_Silent_p.A1705A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1838	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGGTGCCTTCCGCCAGCTGCC	0.746													3	8					0	0	1	0	0	T	144998994	C	T	144998994	2	4	176	1	0	0	0	0	0	0	0	1	12100	639	23	1		1	PLEC	8	144998994	Silent	SNP	C	TCGA-HC-7738-01A-11D-2114-08	71518849	144998994	1365028	33	8177											
NET1	10276	broad.mit.edu	37	chr10	5493806	5493806	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttataggagccaagcaataAaagagttcgacctctggctc	13	10	9	9	1	1	1	0	0	1	1	3	3	1	2	2	2	2	3	2	2	6	5			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr10:5493806A>C	ENST00000355029.4	+	4	411	c.269A>C	c.(268-270)aAa>aCa	p.K90T	NET1_ENST00000380359.3_Missense_Mutation_p.K36T|NET1_ENST00000542715.1_5'UTR	NM_001047160.1	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	90					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity			breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						CCAAGCAATAAAAGAGTTCGA	0.388													5	125					0	0	1	0	0	C	5493806	A	C	5493806	3	2	176	1	0	0	0	0	1	0	0	0	10385	14	1	5	380	5	NET1	10	5493806	Missense_Mutation	SNP	A	TCGA-HC-7738-01A-11D-2114-08		5493806	130040941	34	8178											
OLAH	55301	broad.mit.edu	37	chr10	15103733	15103733	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccatctccagtgcactccttAaggcttcctggaagagaaag	11	9	9	12	0	1	1	0	0	1	1	4	3	3	2	4	2	1	2	4	2	3	2			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr10:15103733A>G	ENST00000378217.3	+	5	520	c.333A>G	c.(331-333)ttA>ttG	p.L111L	OLAH_ENST00000378228.3_Silent_p.L58L	NM_018324.2	NP_060794.1	Q9NV23	SAST_HUMAN	oleoyl-ACP hydrolase	58					fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity			endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						TGCACTCCTTAAGGCTTCCTG	0.428													14	39					0	0	1	0	0	G	15103733	A	G	15103733	2	3	176	1	0	0	0	0	0	0	0	1	10899	359	13	3		3	OLAH	10	15103733	Silent	SNP	A	TCGA-HC-7738-01A-11D-2114-08	9609927	15103733	120431014	35	8179											
FAM21C	253725	broad.mit.edu	37	chr10	46261197	46261197	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctcagagagaagagaaagCaaaagcctccgagctctcca	16	4	10	11	1	2	3	1	0	1	3	4	6	3	3	3	0	4	3	3	0	4	0			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr10:46261197C>T	ENST00000336378.4	+	19	1926	c.1808C>T	c.(1807-1809)gCa>gTa	p.A603V	FAM21C_ENST00000537517.1_Missense_Mutation_p.A579V|FAM21C_ENST00000374362.2_Missense_Mutation_p.A603V|FAM21C_ENST00000359860.4_Missense_Mutation_p.A547V|FAM21C_ENST00000540872.1_Missense_Mutation_p.A603V	NM_015262.2	NP_056077.2	A8K5W5	A8K5W5_HUMAN	family with sequence similarity 21, member C	603										central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						GAAGAGAAAGCAAAAGCCTCC	0.443													15	92					0	0	1	0	0	T	46261197	C	T	46261197	3	4	176	1	0	0	0	0	1	0	0	0	5574	710	25	2	1882	2	FAM21C	10	46261197	Missense_Mutation	SNP	C	TCGA-HC-7738-01A-11D-2114-08	31157464	46261197	89273550	36	8180											
SYVN1	84447	broad.mit.edu	37	chr11	64900945	64900945	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagccctgaactcactgccAtgctggggctggacttggtc	6	10	13	12	0	1	2	1	2	0	0	2	3	1	3	2	4	4	2	2	4	1	1			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr11:64900945A>C	ENST00000526060.1	-	2	320	c.128T>G	c.(127-129)aTg>aGg	p.M43R	SYVN1_ENST00000307289.6_Missense_Mutation_p.M43R|SYVN1_ENST00000294256.8_Missense_Mutation_p.M43R|SYVN1_ENST00000377190.3_Missense_Mutation_p.M43R			Q86TM6	SYVN1_HUMAN	synovial apoptosis inhibitor 1, synoviolin	43					ER-associated protein catabolic process|response to stress	endoplasmic reticulum membrane|integral to membrane|nucleus	acid-amino acid ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						ACTCACTGCCATGCTGGGGCT	0.632													7	110					0	0	1	0	0	C	64900945	A	C	64900945	3	2	176	1	0	0	0	0	1	0	0	0	15544	217	8	5	1785	5	SYVN1	11	64900945	Missense_Mutation	SNP	A	TCGA-HC-7738-01A-11D-2114-08		64900945	70105571	37	8181											
PCF11	51585	broad.mit.edu	37	chr11	82892950	82892950	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagaacgggcaaagagccagTtttttgaaaaggtgcatgaa	16	8	12	5	1	0	4	0	2	0	2	0	4	0	4	1	2	3	3	1	2	6	3			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr11:82892950T>G	ENST00000298281.4	+	13	4674	c.4222T>G	c.(4222-4224)Ttt>Gtt	p.F1408V	RP11-727A23.4_ENST00000528133.1_RNA	NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	1408					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						AAAGAGCCAGTTTTTTGAAAA	0.388													9	18					0	0	1	0	0	G	82892950	T	G	82892950	3	3	176	1	0	0	0	0	1	0	0	0	11620	1725	60	5	4272	5	PCF11	11	82892950	Missense_Mutation	SNP	T	TCGA-HC-7738-01A-11D-2114-08	17992005	82892950	52113566	38	8182											
FOLH1B	219595	broad.mit.edu	37	chr11	89392753	89392753	+	RNA	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggagtcattctctactcAgaccctgctgactactttgc	10	12	7	12	0	3	2	2	1	1	1	4	3	3	3	1	1	4	1	1	1	3	4			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr11:89392753A>C	ENST00000532352.1	+	0	576							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TTCTCTACTCAGACCCTGCTG	0.453													3	67					0	0	1	0	0	C	89392753	A	C	89392753	1	2	176	0	1	0	0	0	0	0	0	0	6013	203	7	5		5	FOLH1B	11	89392753	RNA	SNP	A	TCGA-HC-7738-01A-11D-2114-08	6499803	89392753	45613763	39	8183											
LRMP	4033	broad.mit.edu	37	chr12	25259959	25259959	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tttctgaaaagaaaaataatCcatcaaagtgggatgtctct	16	12	7	6	0	3	2	1	1	2	1	5	3	4	3	1	1	0	0	1	1	6	2			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr12:25259959C>A	ENST00000354454.3	+	20	2060	c.1231C>A	c.(1231-1233)Cca>Aca	p.P411T	LRMP_ENST00000548766.1_Missense_Mutation_p.P411T|LRMP_ENST00000547044.1_Missense_Mutation_p.P411T	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	467					vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					GAAAAATAATCCATCAAAGTG	0.373													13	22					2.31682e-05	2.50673e-05	1	1	0	A	25259959	C	A	25259959	3	1	176	1	0	0	0	0	1	0	0	0	8995	855	30	4	1293	4	LRMP	12	25259959	Missense_Mutation	SNP	C	TCGA-HC-7738-01A-11D-2114-08		25259959	108591936	40	8184											
METAP2	10988	broad.mit.edu	37	chr12	95888909	95888909	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatagactttggaacacataTaagtggtaaattcttgcaga	16	12	8	5	0	1	2	0	0	1	2	1	3	1	3	0	2	2	2	0	2	7	7			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr12:95888909T>C	ENST00000323666.5	+	6	996	c.767T>C	c.(766-768)aTa>aCa	p.I256T	METAP2_ENST00000261220.9_Missense_Mutation_p.I233T|METAP2_ENST00000551840.1_Missense_Mutation_p.I255T|METAP2_ENST00000550777.1_Missense_Mutation_p.I220T|METAP2_ENST00000546753.1_Missense_Mutation_p.I233T	NM_006838.3	NP_006829.1	P50579	AMPM2_HUMAN	methionyl aminopeptidase 2	256					N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13					L-Methionine(DB00134)	GGAACACATATAAGTGGTAAA	0.373													17	48					0	0	1	0	0	C	95888909	T	C	95888909	3	2	176	1	0	0	0	0	1	0	0	0	9537	1406	49	3	789	3	METAP2	12	95888909	Missense_Mutation	SNP	T	TCGA-HC-7738-01A-11D-2114-08	70628950	95888909	37962986	41	8185											
DAO	1610	broad.mit.edu	37	chr12	109286790	109286790	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggagtgaagttcttccagcGgaaagtggagtcttttgagg	9	11	16	5	1	2	2	0	2	2	0	3	5	3	5	1	4	1	1	1	4	2	4			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr12:109286790G>A	ENST00000228476.3	+	6	689	c.485G>A	c.(484-486)cGg>cAg	p.R162Q	DAO_ENST00000551281.1_Intron	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase	162					glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						TTCTTCCAGCGGAAAGTGGAG	0.562													14	35					0	0	1	0	0	A	109286790	G	A	109286790	3	1	176	1	0	0	0	0	1	0	0	0	4255	1116	39	1	503	1	DAO	12	109286790	Missense_Mutation	SNP	G	TCGA-HC-7738-01A-11D-2114-08	13397881	109286790	24565105	42	8186											
TBX3	6926	broad.mit.edu	37	chr12	115109860	115109860	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggcggccagggcggcgactTtgccgtccaggggccccgcg	3	5	18	15	6	0	0	0	0	0	0	1	1	1	0	5	6	1	0	5	6	0	1			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr12:115109860T>C	ENST00000349155.2	-	7	2921	c.1958A>G	c.(1957-1959)aAa>aGa	p.K653R	TBX3_ENST00000257566.3_Missense_Mutation_p.K673R	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN	T-box 3	673	Transcription repression.				anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		GGCGGCGACTTTGCCGTCCAG	0.716													3	4					0	0	1	0	0	C	115109860	T	C	115109860	3	2	176	1	0	0	0	0	1	0	0	0	15719	1841	64	3	217	3	TBX3	12	115109860	Missense_Mutation	SNP	T	TCGA-HC-7738-01A-11D-2114-08	5823070	115109860	18742035	43	8187											
ULK3	25989	broad.mit.edu	37	chr15	75134439	75134439	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgctgcatgaagacacgcGccaccttctcaggcagaatc	11	8	9	13	2	1	3	1	1	1	2	3	3	1	3	2	1	2	3	2	1	2	2			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr15:75134439G>A	ENST00000440863.2	-	3	432	c.341C>T	c.(340-342)gCg>gTg	p.A114V	ULK3_ENST00000569437.1_Missense_Mutation_p.A114V|ULK3_ENST00000568667.1_Missense_Mutation_p.A125V	NM_001099436.1	NP_001092906.1	Q6PHR2	ULK3_HUMAN	unc-51 like kinase 3	114	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(2)	2						GAAGACACGCGCCACCTTCTC	0.572													61	174					0	0	1	0	0	A	75134439	G	A	75134439	3	1	176	1	0	0	0	0	1	0	0	0	17037	1087	38	1	1133	1	ULK3	15	75134439	Missense_Mutation	SNP	G	TCGA-HC-7738-01A-11D-2114-08		75134439	27396953	44	8188											
ZFHX3	463	broad.mit.edu	37	chr16	72991392	72991392	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaatccgctcatcatgaactGggcgtccgaggcagcactgt	9	8	12	12	3	2	1	2	1	0	0	4	3	4	1	2	2	2	3	2	2	2	0			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr16:72991392G>A	ENST00000268489.5	-	2	3325	c.2653C>T	c.(2653-2655)Cag>Tag	p.Q885*	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	885					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				ATCATGAACTGGGCGTCCGAG	0.597													27	62					0	0	1	0	0	A	72991392	G	A	72991392	4	1	176	1	0	0	0	0	0	1	0	0	17692	1357	47	2	8494	2	ZFHX3	16	72991392	Nonsense_Mutation	SNP	G	TCGA-HC-7738-01A-11D-2114-08		72991392	17363361	45	8189											
RAB37	326624	broad.mit.edu	37	chr17	72736974	72736974	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaattcaaagacggggcctTcctgtccggaaccttcatag	10	9	9	13	2	2	1	2	0	0	1	4	2	4	2	5	3	1	0	5	3	4	4			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr17:72736974T>C	ENST00000392610.1	+	2	202	c.161T>C	c.(160-162)tTc>tCc	p.F54S	RAB37_ENST00000392612.3_Intron|RAB37_ENST00000402449.4_Intron|RAB37_ENST00000392615.5_Intron|RAB37_ENST00000340415.3_Intron|RAB37_ENST00000392614.4_Missense_Mutation_p.F59S|RAB37_ENST00000528438.1_Missense_Mutation_p.F27S|RAB37_ENST00000392613.5_Missense_Mutation_p.F54S			Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family	54					protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						GACGGGGCCTTCCTGTCCGGA	0.577													23	184					0	0	1	0	0	C	72736974	T	C	72736974	3	2	176	1	0	0	0	0	1	0	0	0	12979	1783	62	3	470	3	RAB37	17	72736974	Missense_Mutation	SNP	T	TCGA-HC-7738-01A-11D-2114-08		72736974	8458236	46	8190											
PTPRS	5802	broad.mit.edu	37	chr19	5220066	5220066	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccgggatggaacgtgggtgGcagcacagagaagcgagctg	10	4	19	8	3	0	1	0	0	0	1	0	5	0	3	1	4	4	3	1	4	2	0			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr19:5220066G>A	ENST00000372412.4	-	22	3885	c.3652C>T	c.(3652-3654)Cca>Tca	p.P1218S	PTPRS_ENST00000587303.1_Missense_Mutation_p.P1217S|PTPRS_ENST00000357368.4_Missense_Mutation_p.P1217S|PTPRS_ENST00000353284.2_Missense_Mutation_p.P786S|PTPRS_ENST00000348075.2_Missense_Mutation_p.P1195S|PTPRS_ENST00000592099.1_Missense_Mutation_p.P786S|PTPRS_ENST00000262963.6_Missense_Mutation_p.P1213S|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Missense_Mutation_p.P1195S			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1217					cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		AACGTGGGTGGCAGCACAGAG	0.647													4	94					0	0	1	0	0	A	5220066	G	A	5220066	3	1	176	1	0	0	0	0	1	0	0	0	12863	1203	42	2	2265	2	PTPRS	19	5220066	Missense_Mutation	SNP	G	TCGA-HC-7738-01A-11D-2114-08		5220066	53908917	47	8191											
ZNF878	729747	broad.mit.edu	37	chr19	12155153	12155153	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgtcctttcatgtattcGaagatccttgacaaaactga	11	14	8	8	1	1	3	1	2	0	1	4	4	3	3	2	0	1	1	2	0	4	4			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr19:12155153G>T	ENST00000602107.1	-	5	1203	c.1204C>A	c.(1204-1206)Cga>Aga	p.R402R	CTD-2006C1.2_ENST00000476474.1_RNA|ZNF878_ENST00000547628.1_Silent_p.R355R|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA			C9JN71	ZN878_HUMAN	zinc finger protein 878	355					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						TCATGTATTCGAAGATCCTTG	0.383													3	51					1	1	1	1	0	T	12155153	G	T	12155153	2	4	176	1	0	0	0	0	0	0	0	1	18239	1066	37	4		4	ZNF878	19	12155153	Silent	SNP	G	TCGA-HC-7738-01A-11D-2114-08	6935087	12155153	46973830	48	8192											
AKT2	208	broad.mit.edu	37	chr19	40744879	40744879	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggaaggcatacttcagcGcctgggggatgaaggcagca	10	7	15	9	1	2	1	1	1	1	0	2	3	2	3	1	5	3	3	1	5	3	2			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr19:40744879G>A	ENST00000392038.2	-	8	939	c.639_splice	c.e8-1	p.A214_splice	AKT2_ENST00000424901.1_Splice_Site_p.A214_splice|AKT2_ENST00000579047.1_Splice_Site_p.A152_splice|AKT2_ENST00000311278.6_Splice_Site_p.A214_splice	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	214	Protein kinase.				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			ATACTTCAGCGCCTGGGGGAT	0.642			A		"ovarian, pancreatic "								4	105					0	0	1	0	0	A	40744879	G	A	40744879	5	1	176	1	0	0	0	0	0	0	1	0	477	1101	38	1	832	1	AKT2	19	40744879	Splice_Site	SNP	G	TCGA-HC-7738-01A-11D-2114-08	28589726	40744879	18384104	49	8193											
NECAB3	63941	broad.mit.edu	37	chr20	32248142	32248142	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcttgcagctggctcacCgtctcccgcagcaggaagcg	7	6	14	14	3	2	0	1	0	1	0	3	1	2	1	2	3	4	6	2	3	1	1			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr20:32248142C>A	ENST00000246190.6	-	6	502	c.447G>T	c.(445-447)acG>acT	p.T149T	NECAB3_ENST00000606525.1_5'UTR|NECAB3_ENST00000375238.4_Silent_p.T149T	NM_031232.3	NP_112509.3	Q96P71	NECA3_HUMAN	N-terminal EF-hand calcium binding protein 3	149					antibiotic biosynthetic process|protein metabolic process|protein secretion|regulation of amyloid precursor protein biosynthetic process	endoplasmic reticulum membrane|Golgi cis cisterna|nucleus	calcium ion binding|oxidoreductase activity|protein binding			large_intestine(3)|lung(5)|skin(2)	10						GCTGGCTCACCGTCTCCCGCA	0.647													3	67					0.150653	0.155361	1	1	0	A	32248142	C	A	32248142	2	1	176	1	0	0	0	0	0	0	0	1	10353	639	23	4		4	NECAB3	20	32248142	Silent	SNP	C	TCGA-HC-7738-01A-11D-2114-08		32248142	30777378	50	8194											
GNAS	2778	broad.mit.edu	37	chr20	57415297	57415297	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcgctcctccgcgcccttGccacctccaacgcccgtgcc	3	7	8	23	6	0	0	0	0	0	0	4	0	3	0	8	0	3	1	8	0	1	1			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr20:57415297G>T	ENST00000313949.7	+	1	525	c.136G>T	c.(136-138)Gcc>Tcc	p.A46S	GNAS-AS1_ENST00000443966.1_RNA|GNAS_ENST00000371098.2_Missense_Mutation_p.A46S|GNAS_ENST00000371075.3_Missense_Mutation_p.A46S|GNAS-AS1_ENST00000424094.2_RNA|GNAS-AS1_ENST00000598163.1_RNA			P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CCGCGCCCTTGCCACCTCCAA	0.697			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)			3	45					1	1	1	1	0	T	57415297	G	T	57415297	3	4	176	1	0	0	0	0	1	0	0	0	6552	1319	46	4	138	4	GNAS	20	57415297	Missense_Mutation	SNP	G	TCGA-HC-7738-01A-11D-2114-08	25167155	57415297	5610223	51	8195											
BAGE2	85319	broad.mit.edu	37	chr21	11039298	11039298	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgatctggtgtgtaacgaCttcaatgttttctgtcactt	8	17	9	7	1	4	1	2	1	2	0	4	2	4	1	0	1	1	2	0	1	2	5	rs3888470		TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr21:11039298C>T	ENST00000470054.1	-	0	905									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)		TGTGTAACGACTTCAATGTTT	0.388													12	252					0	0	1	0	0	T	11039298	C	T	11039298	1	4	176	0	1	0	0	0	0	0	0	0	1290	580	20	2		2	BAGE2	21	11039298	RNA	SNP	C	TCGA-HC-7738-01A-11D-2114-08		11039298	37090597	52	8196											
BAGE2	85319	broad.mit.edu	37	chr21	11049592	11049592	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taagaggtctcccgggctgtCgcacactgcacagtttgcat	8	10	11	12	2	1	1	0	0	1	1	3	1	1	1	1	2	2	5	1	2	1	2	rs3906134		TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr21:11049592C>T	ENST00000470054.1	-	0	516									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)		CCCGGGCTGTCGCACACTGCA	0.388													20	184					0	0	1	0	0	T	11049592	C	T	11049592	1	4	176	0	1	0	0	0	0	0	0	0	1290	871	31	1		1	BAGE2	21	11049592	RNA	SNP	C	TCGA-HC-7738-01A-11D-2114-08	10294	11049592	37080303	53	8197											
BAGE2	85319	broad.mit.edu	37	chr21	11058316	11058316	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccaaagtgcttacaaaatGcacatcgctgaaaggggtaa	15	8	9	9	1	0	1	0	1	0	0	2	1	1	1	1	2	3	4	1	2	6	2			TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chr21:11058316G>T	ENST00000470054.1	-	0	331									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)		CTTACAAAATGCACATCGCTG	0.388													8	211					0.00448238	0.00469583	1	1	0	T	11058316	G	T	11058316	1	4	176	0	1	0	0	0	0	0	0	0	1290	1319	46	4		4	BAGE2	21	11058316	RNA	SNP	G	TCGA-HC-7738-01A-11D-2114-08	8724	11058316	37071579	54	8198											
IRS4	8471	broad.mit.edu	37	chrX	107977190	107977191	+	Frame_Shift_Del	DEL	AT	AT	-																															gaggaagagccaccctgaggAtttctggggttttttggaat																										TCGA-HC-7738-01A-11D-2114-08	TCGA-HC-7738-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af73b3d5-51db-4b4d-b56a-196c61830450	573b63e8-ecb6-4c86-932a-fd674800d592	g.chrX:107977190_107977191delAT	ENST00000372129.2	-	1	2460_2461	c.2384_2385delAT	c.(2383-2385)afs	p.N795fs		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	795	CRK-binding.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CACCCTGAGGATTTCTGGGGTT	0.465													20	101	---	---	---	---						-	107977191	AT	-	107977190	7	5	176	1	0	1	0	1	0	0	0	0	7886	330	12	0	1392	0	IRS4	23	107977190	Frame_Shift_Del	DEL	AT	TCGA-HC-7738-01A-11D-2114-08		107977190	47293370	55	8199											
SPEN	23013	broad.mit.edu	37	chr1	16262301	16262301	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgagtaccgactgcacccctAtactgtgccacgggatgtga	9	9	11	12	2	0	2	0	2	0	0	0	4	0	3	4	1	4	2	4	1	3	3			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr1:16262301A>G	ENST00000375759.3	+	11	9770	c.9566A>G	c.(9565-9567)tAt>tGt	p.Y3189C		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3189					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CTGCACCCCTATACTGTGCCA	0.607													11	87					0	0	1	0	0	G	16262301	A	G	16262301	3	3	177	1	0	0	0	0	1	0	0	0	15094	449	16	3	9608	3	SPEN	1	16262301	Missense_Mutation	SNP	A	TCGA-HC-7740-01A-11D-2114-08		16262301	232988320	1	8200											
MYOM3	127294	broad.mit.edu	37	chr1	24419567	24419567	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggcggtctgtgtagaggatCttccgacgtctcgaggacct	6	11	14	10	4	3	1	0	0	3	1	5	5	4	3	2	4	0	1	2	4	1	2			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr1:24419567C>T	ENST00000330966.7	-	10	1125	c.963G>A	c.(961-963)aaG>aaA	p.K321K	MYOM3_ENST00000374434.3_Silent_p.K320K|MYOM3_ENST00000329601.7_Silent_p.K320K|MYOM3_ENST00000475306.1_5'UTR			Q5VTT5	MYOM3_HUMAN	myomesin 3	320	Ig-like C2-type 2.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TGTAGAGGATCTTCCGACGTC	0.627													7	38					0	0	1	0	0	T	24419567	C	T	24419567	2	4	177	1	0	0	0	0	0	0	0	1	10141	912	32	2		2	MYOM3	1	24419567	Silent	SNP	C	TCGA-HC-7740-01A-11D-2114-08	8157266	24419567	224831054	2	8201											
CELSR2	1952	broad.mit.edu	37	chr1	109812119	109812119	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatgaggagcttctgcccCgggccctggacaaacccgtc	8	7	12	14	2	1	2	0	2	1	0	2	4	1	4	4	3	3	1	4	3	1	1			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr1:109812119C>T	ENST00000271332.3	+	21	6947	c.6886C>T	c.(6886-6888)Cgg>Tgg	p.R2296W		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2296					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GCTTCTGCCCCGGGCCCTGGA	0.592													4	91					0	0	1	0	0	T	109812119	C	T	109812119	3	4	177	1	0	0	0	0	1	0	0	0	3244	643	23	1	6968	1	CELSR2	1	109812119	Missense_Mutation	SNP	C	TCGA-HC-7740-01A-11D-2114-08	85392552	109812119	139438502	3	8202											
SHC1	6464	broad.mit.edu	37	chr1	154942720	154942720	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtctggcatggctgcccctaCgatcccctccccatcatcag	6	9	8	18	1	3	0	2	0	1	0	5	1	5	0	6	2	2	2	6	2	1	1			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr1:154942720C>T	ENST00000448116.2	-	1	503	c.283G>A	c.(283-285)Gta>Ata	p.V95I	SHC1_ENST00000368445.5_Missense_Mutation_p.V95I|SHC1_ENST00000368450.1_Intron|SHC1_ENST00000606391.1_Intron|SHC1_ENST00000368449.4_Intron|SHC1_ENST00000368453.4_Intron	NM_001130040.1	NP_001123512.1	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	95				V -> D (in Ref. 2; AAB49972).	activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCTGCCCCTACGATCCCCTCC	0.687													9	106					0	0	1	0	0	T	154942720	C	T	154942720	3	4	177	1	0	0	0	0	1	0	0	0	14325	536	19	1	1519	1	SHC1	1	154942720	Missense_Mutation	SNP	C	TCGA-HC-7740-01A-11D-2114-08	45130601	154942720	94307901	4	8203											
HHAT	55733	broad.mit.edu	37	chr1	210577986	210577986	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttattatccagtcttacacaAtgggcccatcctcagcttct	9	14	5	13	0	3	0	1	0	2	0	5	0	5	0	3	1	2	1	3	1	4	4			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr1:210577986A>C	ENST00000367010.1	+	6	874	c.647A>C	c.(646-648)aAt>aCt	p.N216T	HHAT_ENST00000413764.2_Missense_Mutation_p.N216T|HHAT_ENST00000261458.3_Missense_Mutation_p.N216T|HHAT_ENST00000308852.6_Missense_Mutation_p.N171T|HHAT_ENST00000537898.1_Missense_Mutation_p.N151T|HHAT_ENST00000545781.1_Missense_Mutation_p.N153T|HHAT_ENST00000545154.1_Missense_Mutation_p.N217T|HHAT_ENST00000391905.3_Missense_Mutation_p.N216T|HHAT_ENST00000541565.1_Intron	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	216					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		GTCTTACACAATGGGCCCATC	0.532													11	89					0	0	1	0	0	C	210577986	A	C	210577986	3	2	177	1	0	0	0	0	1	0	0	0	7130	101	4	5	763	5	HHAT	1	210577986	Missense_Mutation	SNP	A	TCGA-HC-7740-01A-11D-2114-08	55635266	210577986	38672635	5	8204											
GMCL1	64395	broad.mit.edu	37	chr2	70068104	70068104	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcatttggttcactgtatcGagatgatgtcttgataaagc	10	15	10	6	1	2	3	1	2	1	1	3	4	2	3	0	1	2	3	0	1	3	5			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr2:70068104G>A	ENST00000282570.3	+	4	763	c.512G>A	c.(511-513)cGa>cAa	p.R171Q		NM_178439.3	NP_848526.1	Q96IK5	GMCL1_HUMAN	germ cell-less, spermatogenesis associated 1	171	BTB.				cell differentiation|multicellular organismal development|spermatogenesis	nuclear matrix				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	15						TCACTGTATCGAGATGATGTC	0.388													4	48					0	0	1	0	0	A	70068104	G	A	70068104	3	1	177	1	0	0	0	0	1	0	0	0	6527	1058	37	1	526	1	GMCL1	2	70068104	Missense_Mutation	SNP	G	TCGA-HC-7740-01A-11D-2114-08		70068104	173131269	6	8205											
RYBP	23429	broad.mit.edu	37	chr3	72495650	72495650	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cacagatcttcaagtacctgGtggaggtgcctttcctcaca	9	11	9	12	0	3	1	2	0	1	1	4	2	4	2	3	3	2	1	3	3	2	3			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr3:72495650G>A	ENST00000477973.1	-	1	419	c.420C>T	c.(418-420)caC>caT	p.H140H		NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN	RING1 and YY1 binding protein	0					apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			prostate(1)|upper_aerodigestive_tract(1)	2		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)		CAAGTACCTGGTGGAGGTGCC	0.438													4	32					0	0	1	0	0	A	72495650	G	A	72495650	2	1	177	1	0	0	0	0	0	0	0	1	13818	1261	44	2		2	RYBP	3	72495650	Silent	SNP	G	TCGA-HC-7740-01A-11D-2114-08		72495650	125526780	7	8206											
PROS1	5627	broad.mit.edu	37	chr3	93646107	93646107	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcttaccgtttccgggtcaTtttcaaagacctccctggct	6	14	8	13	2	2	1	2	0	0	1	4	1	4	1	4	2	2	3	4	2	2	4			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr3:93646107T>A	ENST00000394236.3	-	2	537	c.221A>T	c.(220-222)aAt>aTt	p.N74I	PROS1_ENST00000407433.1_5'UTR	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	74	Gla.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	TTCCGGGTCATTTTCAAAGAC	0.403													13	115					0	0	1	0	0	A	93646107	T	A	93646107	3	1	177	1	0	0	0	0	1	0	0	0	12610	1493	52	5	1865	5	PROS1	3	93646107	Missense_Mutation	SNP	T	TCGA-HC-7740-01A-11D-2114-08	21150457	93646107	104376323	8	8207											
IRX1	79192	broad.mit.edu	37	chr5	3600022	3600022	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccaagatctggtcgctggcGgagacagccacgagccccga	9	4	13	15	4	1	2	0	0	1	2	2	5	1	2	4	3	2	1	4	3	1	0			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr5:3600022G>C	ENST00000302006.3	+	2	1012	c.960G>C	c.(958-960)gcG>gcC	p.A320A	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	320						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GGTCGCTGGCGGAGACAGCCA	0.786													2	7					0	0	1	0	0	C	3600022	G	C	3600022	2	2	177	1	0	0	0	0	0	0	0	1	7887	1103	39	4		4	IRX1	5	3600022	Silent	SNP	G	TCGA-HC-7740-01A-11D-2114-08		3600022	177315238	9	8208											
PDE1C	5137	broad.mit.edu	37	chr7	31862844	31862844	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgatcgcttggcatctgaCgagctgatgctattcaaact	9	12	9	11	2	2	3	1	3	1	0	3	4	2	3	1	1	3	4	1	1	2	3			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr7:31862844C>T	ENST00000396184.3	-	15	1629	c.1425G>A	c.(1423-1425)tcG>tcA	p.S475S	PDE1C_ENST00000396182.2_Silent_p.S475S|PDE1C_ENST00000321453.7_Silent_p.S475S|PDE1C_ENST00000396191.1_Silent_p.S475S|PDE1C_ENST00000396193.1_Silent_p.S535S	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	475	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TGGCATCTGACGAGCTGATGC	0.438													7	60					0	0	1	0	0	T	31862844	C	T	31862844	2	4	177	1	0	0	0	0	0	0	0	1	11682	523	19	1		1	PDE1C	7	31862844	Silent	SNP	C	TCGA-HC-7740-01A-11D-2114-08		31862844	127275819	10	8209											
SEMA3D	223117	broad.mit.edu	37	chr7	84628962	84628962	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagtctttgtatctcaaccGtgactcagccaatagatcct	10	13	7	11	1	3	2	2	1	2	1	5	2	4	2	3	0	2	2	3	0	5	4			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr7:84628962G>A	ENST00000284136.6	-	17	2171	c.2128C>T	c.(2128-2130)Cgg>Tgg	p.R710W	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	710					cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TATCTCAACCGTGACTCAGCC	0.488													6	100					0	0	1	0	0	A	84628962	G	A	84628962	3	1	177	1	0	0	0	0	1	0	0	0	14081	1144	40	1	209	1	SEMA3D	7	84628962	Missense_Mutation	SNP	G	TCGA-HC-7740-01A-11D-2114-08	52766118	84628962	74509701	11	8210											
WHSC1L1	54904	broad.mit.edu	37	chr8	38157097	38157097	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catggggtctgaatggtcctGaactatcagccctatacgaa	11	10	10	10	1	2	2	1	2	1	0	3	3	3	2	2	3	3	0	2	3	6	3			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr8:38157097G>A	ENST00000317025.8	-	15	3140	c.2623C>T	c.(2623-2625)Cag>Tag	p.Q875*	WHSC1L1_ENST00000527502.1_Nonsense_Mutation_p.Q875*|WHSC1L1_ENST00000433384.2_Intron	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	875					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			GAATGGTCCTGAACTATCAGC	0.393			T	NUP98	AML								10	47					0	0	1	0	0	A	38157097	G	A	38157097	4	1	177	1	0	0	0	0	0	1	0	0	17423	1299	45	2	1730	2	WHSC1L1	8	38157097	Nonsense_Mutation	SNP	G	TCGA-HC-7740-01A-11D-2114-08		38157097	108206925	12	8211											
TIGD5	84948	broad.mit.edu	37	chr8	144681434	144681434	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcatgcgcagcttcatgcTcaaggacatgctctacctgg	8	11	9	13	1	4	0	3	0	1	0	4	1	4	1	1	2	5	4	1	2	2	3			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr8:144681434T>C	ENST00000504548.2	+	1	1361	c.1361T>C	c.(1360-1362)cTc>cCc	p.L454P	TIGD5_ENST00000321385.3_Missense_Mutation_p.L405P	NM_032862.4	NP_116251.4	E7EWS2	E7EWS2_HUMAN	tigger transposable element derived 5	454					regulation of transcription, DNA-dependent	chromosome, centromeric region	DNA binding			NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			AGCTTCATGCTCAAGGACATG	0.667													6	25					0	0	1	0	0	C	144681434	T	C	144681434	3	2	177	1	0	0	0	0	1	0	0	0	15959	1551	54	3	1363	3	TIGD5	8	144681434	Missense_Mutation	SNP	T	TCGA-HC-7740-01A-11D-2114-08	106524337	144681434	1682588	13	8212											
CHAT	1103	broad.mit.edu	37	chr10	50835782	50835782	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccaattggcctgctgacGtctgacgggaggagcgagtg	7	8	15	11	3	1	2	0	2	1	0	2	5	2	4	3	3	2	1	3	3	1	1			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr10:50835782G>A	ENST00000395562.2	+	8	1285	c.816G>A	c.(814-816)acG>acA	p.T272T	CHAT_ENST00000339797.1_Silent_p.T236T|CHAT_ENST00000395559.2_Silent_p.T236T|CHAT_ENST00000337653.2_Silent_p.T354T|CHAT_ENST00000455728.2_Silent_p.T236T|CHAT_ENST00000351556.3_Silent_p.T236T	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	354					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	GCCTGCTGACGTCTGACGGGA	0.592													7	71					0	0	1	0	0	A	50835782	G	A	50835782	2	1	177	1	0	0	0	0	0	0	0	1	3335	1132	40	1		1	CHAT	10	50835782	Silent	SNP	G	TCGA-HC-7740-01A-11D-2114-08		50835782	84698965	14	8213											
ATHL1	80162	broad.mit.edu	37	chr11	293076	293076	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgattttcagacacctcaCgtgtgccagccccacgctga	9	9	9	14	2	2	3	2	2	0	1	2	4	2	3	4	0	2	1	4	0	0	2			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr11:293076C>T	ENST00000409479.1	+	7	1523	c.1265C>T	c.(1264-1266)aCg>aTg	p.T422M	ATHL1_ENST00000409548.2_Intron|ATHL1_ENST00000409655.1_Intron			Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1 (yeast)	419					carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		AGACACCTCACGTGTGCCAGC	0.612													13	114					0	0	1	0	0	T	293076	C	T	293076	3	4	177	1	0	0	0	0	1	0	0	0	1103	551	19	1		1	ATHL1	11	293076	Missense_Mutation	SNP	C	TCGA-HC-7740-01A-11D-2114-08		293076	134713440	15	8214											
HPS5	11234	broad.mit.edu	37	chr11	18313152	18313152	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaaagtgtggtccacatgTccactggtgcttttgatctt	7	15	10	9	0	1	1	0	1	1	0	3	1	3	1	2	2	2	2	2	2	1	3			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr11:18313152T>C	ENST00000396253.3	-	15	2397	c.1935A>G	c.(1933-1935)ggA>ggG	p.G645G	HPS5_ENST00000438420.2_Silent_p.G645G|HPS5_ENST00000352460.3_5'UTR|HPS5_ENST00000349215.3_Silent_p.G759G	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	759						cytosol				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GGTCCACATGTCCACTGGTGC	0.433									Hermansky-Pudlak syndrome				11	123					0	0	1	0	0	C	18313152	T	C	18313152	2	2	177	1	0	0	0	0	0	0	0	1	7383	1654	58	3		3	HPS5	11	18313152	Silent	SNP	T	TCGA-HC-7740-01A-11D-2114-08	18020076	18313152	116693364	16	8215											
SMARCC2	6601	broad.mit.edu	37	chr12	56558126	56558126	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggcaggaggttgccctgaaCagctgccacaatggcagggc	9	5	16	11	0	0	1	0	1	0	0	0	2	0	2	2	5	4	4	2	5	2	1			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr12:56558126C>G	ENST00000394023.3	-	29	3448	c.3343G>C	c.(3343-3345)Gtt>Ctt	p.V1115L	SMARCC2_ENST00000550164.1_Missense_Mutation_p.V1208L|SMARCC2_ENST00000267064.4_Missense_Mutation_p.V1177L|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Intron	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1079	Pro-rich.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TTGCCCTGAACAGCTGCCACA	0.662													7	108					0	0	1	0	0	G	56558126	C	G	56558126	3	3	177	1	0	0	0	0	1	0	0	0	14830	478	17	4	123	4	SMARCC2	12	56558126	Missense_Mutation	SNP	C	TCGA-HC-7740-01A-11D-2114-08		56558126	77293769	17	8216											
TRHDE	29953	broad.mit.edu	37	chr12	73056936	73056936	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaaaatgctttaccaagaCgagcttttccaatggttagg	12	12	10	7	1	0	1	0	0	0	1	1	3	1	2	2	3	3	3	2	3	6	5			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	2b9ec727-0616-4b5f-991d-e28121bd724b	g.chr12:73056936C>T	ENST00000261180.4	+	19	3132	c.3036C>T	c.(3034-3036)gaC>gaT	p.D1012D		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	1012					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TTTACCAAGACGAGCTTTTCC	0.388													6	66					0	0	1	0	0	T	73056936	C	T	73056936	2	4	177	1	0	0	0	0	0	0	0	1	16540	535	19	1		1	TRHDE	12	73056936	Silent	SNP	C	TCGA-HC-7740-01A-11D-2114-08	16498810	73056936	60794959	18	8217											
NAA25	80018	broad.mit.edu	37	chr12	112486111	112486113	+	In_Frame_Del	DEL	AGA	AGA	-																															cttacatatttgcttcaagtAgaaggtctaacagcatccgt																										TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr12:112486111_112486113delAGA	ENST00000261745.4	-	16	2111_2113	c.1863_1865delTCT	c.(1861-1866)cta>ct	p.LL621del		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	621						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						TGCTTCAAGTAGAAGGTCTAACA	0.399													8	65	---	---	---	---						-	112486113	AGA	-	112486111	7	5	177	1	0	1	0	1	0	0	0	0	10169	420	15	0	1089	0	NAA25	12	112486111	In_Frame_Del	DEL	AGA	TCGA-HC-7740-01A-11D-2114-08	39429175	112486111	21365784	19	8218											
HEATR5A	25938	broad.mit.edu	37	chr14	31841095	31841095	+	Frame_Shift_Del	DEL	G	G	-																															agtaagaagatcaccacagtGggaaacaaagctcttgatag																										TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr14:31841095delG	ENST00000543095.2	-	13	2066	c.1882delC	c.(1882-1884)acfs	p.H628fs	HEATR5A_ENST00000439348.1_Frame_Shift_Del_p.H622fs|HEATR5A_ENST00000439727.1_Frame_Shift_Del_p.H335fs|HEATR5A_ENST00000389961.3_Frame_Shift_Del_p.H622fs|HEATR5A_ENST00000404677.3_Frame_Shift_Del_p.H628fs	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	622							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		TCACCACAGTGGGAAACAAAG	0.408													2	4	---	---	---	---						-	31841095	G	-	31841095	7	5	177	1	0	1	0	1	0	0	0	0	7072	1348	47	0	4354	0	HEATR5A	14	31841095	Frame_Shift_Del	DEL	G	TCGA-HC-7740-01A-11D-2114-08		31841095	75508445	20	8219											
PTPN9	5780	broad.mit.edu	37	chr15	75801287	75801287	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gactttgtccttcaggaggaGactgatgatggaatagggca	11	10	14	6	0	1	3	1	2	0	1	2	7	2	5	1	4	0	1	1	4	2	3			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr15:75801287G>C	ENST00000306726.2	-	6	1122	c.610C>G	c.(610-612)Ctc>Gtc	p.L204V		NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	204	CRAL-TRIO.					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTCAGGAGGAGACTGATGATG	0.473													6	42					0	0	1	0	0	C	75801287	G	C	75801287	3	2	177	1	0	0	0	0	1	0	0	0	12846	942	33	4	1203	4	PTPN9	15	75801287	Missense_Mutation	SNP	G	TCGA-HC-7740-01A-11D-2114-08		75801287	26730105	21	8220											
GRIN2A	0	broad.mit.edu	37	chr16	10273944	10273944	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaatccagcatctgggctaCggcctcctggtccgtgtcgt	7	10	11	13	3	1	0	0	0	1	0	5	0	4	0	4	3	2	2	4	3	3	1			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr16:10273944C>T	ENST00000396573.2	-	3	634	c.325G>A	c.(325-327)Gta>Ata	p.V109I	GRIN2A_ENST00000562109.1_Missense_Mutation_p.V109I|GRIN2A_ENST00000330684.3_Missense_Mutation_p.V109I|GRIN2A_ENST00000396575.2_Missense_Mutation_p.V109I|GRIN2A_ENST00000404927.2_Missense_Mutation_p.V109I	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	109					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATCTGGGCTACGGCCTCCTGG	0.612													11	108					0	0	1	0	0	T	10273944	C	T	10273944	3	4	177	1	0	0	0	0	1	0	0	0	6820	536	19	1	4117	1	GRIN2A	16	10273944	Missense_Mutation	SNP	C	TCGA-HC-7740-01A-11D-2114-08		10273944	80080809	22	8221											
MKL2	57496	broad.mit.edu	37	chr16	14304154	14304154	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agaacaactagtggaccaggGcatcatgccacgtaagattt	14	8	10	9	1	1	2	1	0	0	2	1	3	1	3	2	2	3	2	2	2	4	3			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr16:14304154G>A	ENST00000571589.1	+	4	381	c.209G>A	c.(208-210)gGc>gAc	p.G70D	MKL2_ENST00000574045.1_Missense_Mutation_p.G70D|MKL2_ENST00000318282.5_Missense_Mutation_p.G70D|MKL2_ENST00000341243.5_Missense_Mutation_p.G59D|MKL2_ENST00000573051.1_Missense_Mutation_p.G19D|MKL2_ENST00000572567.1_Missense_Mutation_p.G59D	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	59					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GTGGACCAGGGCATCATGCCA	0.493													9	81					0	0	1	0	0	A	14304154	G	A	14304154	3	1	177	1	0	0	0	0	1	0	0	0	9650	1203	42	2	215	2	MKL2	16	14304154	Missense_Mutation	SNP	G	TCGA-HC-7740-01A-11D-2114-08	4030210	14304154	76050599	23	8222											
SPAG9	9043	broad.mit.edu	37	chr17	49097614	49097614	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgacttttcttcattttcagCagagccttaaaaaaggacat	13	14	6	8	0	3	2	2	1	1	1	3	3	3	3	1	1	2	1	1	1	3	6			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr17:49097614C>A	ENST00000262013.7	-	8	1205	c.997G>T	c.(997-999)Gct>Tct	p.A333S	SPAG9_ENST00000357122.4_Missense_Mutation_p.A319S|SPAG9_ENST00000505279.1_Missense_Mutation_p.A319S|SPAG9_ENST00000510283.1_Missense_Mutation_p.A176S	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	333					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			TCATTTTCAGCAGAGCCTTAA	0.338													3	28					0.115264	0.115264	1	1	0	A	49097614	C	A	49097614	3	1	177	1	0	0	0	0	1	0	0	0	15041	710	25	4	3060	4	SPAG9	17	49097614	Missense_Mutation	SNP	C	TCGA-HC-7740-01A-11D-2114-08		49097614	32097596	24	8223											
SMCHD1	23347	broad.mit.edu	37	chr18	2760731	2760731	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaacaaatattctcaacagTgaacaggtttgcttactttt	15	14	5	7	0	1	1	1	1	1	0	2	1	1	1	0	1	5	2	0	1	7	6			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr18:2760731T>G	ENST00000320876.6	+	35	4766	c.4428T>G	c.(4426-4428)agT>agG	p.S1476R	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.S1476R	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1476					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						TTCTCAACAGTGAACAGGTTT	0.294													3	46					0	0	1	0	0	G	2760731	T	G	2760731	3	3	177	1	0	0	0	0	1	0	0	0	14842	1693	59	5	4566	5	SMCHD1	18	2760731	Missense_Mutation	SNP	T	TCGA-HC-7740-01A-11D-2114-08		2760731	75316517	25	8224											
RYR1	6261	broad.mit.edu	37	chr19	38934381	38934381	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgagctgcctcaccacctcCcgctccatgactgacaagct	8	8	7	18	1	1	3	1	3	0	0	3	3	3	3	5	0	3	3	5	0	1	0			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr19:38934381C>T	ENST00000355481.4	+	5	500	c.369C>T	c.(367-369)tcC>tcT	p.S123S	RYR1_ENST00000359596.3_Silent_p.S123S|RYR1_ENST00000360985.3_Silent_p.S123S	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	123	MIR 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TCACCACCTCCCGCTCCATGA	0.647													9	93					0	0	1	0	0	T	38934381	C	T	38934381	2	4	177	1	0	0	0	0	0	0	0	1	13820	610	22	2		2	RYR1	19	38934381	Silent	SNP	C	TCGA-HC-7740-01A-11D-2114-08		38934381	20194602	26	8225											
ZHX3	23051	broad.mit.edu	37	chr20	39832183	39832183	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgaacacacagtgttaatGggtgccacacctggctgctt	9	12	10	10	0	0	1	0	1	0	0	0	1	0	1	2	2	3	3	2	2	2	3			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chr20:39832183G>A	ENST00000309060.3	-	4	1789	c.1374C>T	c.(1372-1374)ccC>ccT	p.P458P	ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000544979.2_Silent_p.P458P|ZHX3_ENST00000540170.1_Silent_p.P458P|ZHX3_ENST00000560361.1_Silent_p.P458P|ZHX3_ENST00000432768.2_Silent_p.P458P|ZHX3_ENST00000559234.1_Silent_p.P458P			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	458	Required for homodimerization and interaction with NFYA.|Required for repressor activity.				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				CAGTGTTAATGGGTGCCACAC	0.572													10	57					0	0	1	0	0	A	39832183	G	A	39832183	2	1	177	1	0	0	0	0	0	0	0	1	17735	1335	47	2		2	ZHX3	20	39832183	Silent	SNP	G	TCGA-HC-7740-01A-11D-2114-08		39832183	23193337	27	8226											
IL1RAPL2	26280	broad.mit.edu	37	chrX	104728369	104728369	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcagccaagtgttatagaTgtccagctgggtaagtcccc	11	10	10	10	0	1	1	1	0	0	1	3	1	3	1	4	1	2	3	4	1	5	3			TCGA-HC-7740-01A-11D-2114-08	TCGA-HC-7740-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7303f9fe-88bb-48ba-b9b4-ebf9e4770c1c	9db864a0-450d-4ef4-83ff-1a869ab80803	g.chrX:104728369T>A	ENST00000372582.1	+	6	1518	c.762T>A	c.(760-762)gaT>gaA	p.D254E	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.D254E	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	254	Ig-like C2-type 3.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GTGTTATAGATGTCCAGCTGG	0.423													16	51					0	0	1	0	0	A	104728369	T	A	104728369	3	1	177	1	0	0	0	0	1	0	0	0	7706	1461	51	5	780	5	IL1RAPL2	23	104728369	Missense_Mutation	SNP	T	TCGA-HC-7740-01A-11D-2114-08		104728369	50542191	28	8227											
DLGAP3	58512	broad.mit.edu	37	chr1	35370062	35370062	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggcaaggcagcggccttccGacccgcccgagcgccccttg	6	4	13	18	5	0	0	0	0	0	0	1	2	1	0	6	3	2	2	6	3	1	2	rs147968723		TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr1:35370062G>A	ENST00000373347.1	-	3	1191	c.923C>T	c.(922-924)tCg>tTg	p.S308L	DLGAP3_ENST00000235180.4_Missense_Mutation_p.S308L			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	308					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				GCGGCCTTCCGACCCGCCCGA	0.667													25	67					0	0	1	0	0	A	35370062	G	A	35370062	3	1	178	1	0	0	0	0	1	0	0	0	4589	1059	37	1	2056	1	DLGAP3	1	35370062	Missense_Mutation	SNP	G	TCGA-HC-7742-01A-11D-2114-08		35370062	213880559	1	8228											
C1orf51	148523	broad.mit.edu	37	chr1	150259209	150259209	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actatctggagagggtcctcGttgctacagtttgccagtaa	9	12	11	9	1	1	1	0	0	1	1	3	2	2	1	2	2	3	4	2	2	3	5			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr1:150259209G>A	ENST00000290363.5	+	5	1450	c.1001G>A	c.(1000-1002)cGt>cAt	p.R334H	C1orf51_ENST00000369094.1_Missense_Mutation_p.R246H|C1orf51_ENST00000369095.1_Missense_Mutation_p.R334H	NM_144697.2	NP_653298.1	Q8N365	CA051_HUMAN	chromosome 1 open reading frame 51	334										endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAGGGTCCTCGTTGCTACAGT	0.552													47	122					0	0	1	0	0	A	150259209	G	A	150259209	3	1	178	1	0	0	0	0	1	0	0	0	2057	1145	40	1	1019	1	C1orf51	1	150259209	Missense_Mutation	SNP	G	TCGA-HC-7742-01A-11D-2114-08	114889147	150259209	98991412	2	8229											
ATP8B2	57198	broad.mit.edu	37	chr1	154303605	154303605	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccatcacagctgttaaaGatgccactgatgactatgtg	12	11	8	10	0	2	3	2	2	0	1	2	3	2	3	2	0	2	2	2	0	3	2			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr1:154303605G>T	ENST00000368489.3	+	5	385	c.385G>T	c.(385-387)Gat>Tat	p.D129Y	ATP8B2_ENST00000368487.3_Missense_Mutation_p.D96Y|ATP8B2_ENST00000341822.2_Missense_Mutation_p.D115Y|ATP8B2_ENST00000426445.1_3'UTR	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	115					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AGCTGTTAAAGATGCCACTGA	0.488													21	40					3.5997e-14	3.933e-14	1	1	0	T	154303605	G	T	154303605	3	4	178	1	0	0	0	0	1	0	0	0	1193	942	33	4	403	4	ATP8B2	1	154303605	Missense_Mutation	SNP	G	TCGA-HC-7742-01A-11D-2114-08	4044396	154303605	94947016	3	8230											
XCL1	6375	broad.mit.edu	37	chr1	168549329	168549329	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agtgaagtctcagataagagGacctgtgtgagcctcactac	12	9	11	9	0	2	4	2	2	1	2	3	5	2	5	2	1	2	0	2	1	3	2			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr1:168549329G>C	ENST00000367818.3	+	2	255	c.90G>C	c.(88-90)agG>agC	p.R30S		NM_002995.2	NP_002986.1	P47992	XCL1_HUMAN	chemokine (C motif) ligand 1	30					CD4-positive, alpha-beta T cell proliferation|CD8-positive, alpha-beta T cell proliferation|cell-cell signaling|cellular response to interleukin-4|cellular response to transforming growth factor beta stimulus|immunoglobulin production in mucosal tissue|lymphocyte chemotaxis|negative regulation of interferon-gamma production|negative regulation of interleukin-2 production|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell cytokine production|negative regulation of T-helper 1 cell activation|negative regulation of transcription, DNA-dependent|neutrophil chemotaxis|positive regulation of activated T cell proliferation|positive regulation of B cell chemotaxis|positive regulation of granzyme A production|positive regulation of granzyme B production|positive regulation of interleukin-10 production|positive regulation of natural killer cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell chemotaxis|positive regulation of T cell cytokine production|positive regulation of T cell mediated cytotoxicity|positive regulation of thymocyte migration|positive regulation of transforming growth factor-beta production|regulation of inflammatory response|release of sequestered calcium ion into cytosol|response to virus|T-helper 1 cell cytokine production|T-helper 2 cell cytokine production	extracellular space	chemokine activity|protein homodimerization activity			kidney(2)|lung(7)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.208)					CAGATAAGAGGACCTGTGTGA	0.458													19	71					0	0	1	0	0	C	168549329	G	C	168549329	3	2	178	1	0	0	0	0	1	0	0	0	17483	1165	41	4	96	4	XCL1	1	168549329	Missense_Mutation	SNP	G	TCGA-HC-7742-01A-11D-2114-08	14245724	168549329	80701292	4	8231											
LAMC2	3918	broad.mit.edu	37	chr1	183207488	183207488	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caatcttgctaaaagcagagCacaagaagcactgagtatgg	16	7	10	8	0	1	3	0	1	1	2	1	3	1	3	0	1	4	5	0	1	6	3			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr1:183207488C>T	ENST00000264144.4	+	19	2866	c.2801C>T	c.(2800-2802)gCa>gTa	p.A934V	LAMC2_ENST00000493293.1_Missense_Mutation_p.A934V	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	934	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						AAAAGCAGAGCACAAGAAGCA	0.418													37	109					0	0	1	0	0	T	183207488	C	T	183207488	3	4	178	1	0	0	0	0	1	0	0	0	8654	710	25	2	2875	2	LAMC2	1	183207488	Missense_Mutation	SNP	C	TCGA-HC-7742-01A-11D-2114-08	14658159	183207488	66043133	5	8232											
SMG7	9887	broad.mit.edu	37	chr1	183515266	183515267	+	Frame_Shift_Ins	INS	-	-	A																															aatgcagcagcagcctctagINSaaaaaaaaatgaagcctttt																										TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr1:183515266_183515267insA	ENST00000367537.3	+	18	2680_2681	c.2485_2486insA	c.(2485-2487)aaafs	p.K829fs	SMG7_ENST00000347615.2_Frame_Shift_Ins_p.K846fs|SMG7_ENST00000456731.2_Frame_Shift_Ins_p.K758fs|SMG7_ENST00000515829.2_Frame_Shift_Ins_p.K800fs|SMG7_ENST00000508461.1_Frame_Shift_Ins_p.K804fs|SMG7_ENST00000507469.1_Frame_Shift_Ins_p.K800fs			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	846	Gln/Pro-rich.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						GCAGCCTCTAGAAAAAAAAATG	0.45													7	60	---	---	---	---						A	183515267	-	A	183515266	7	5	178	1	0	1	1	0	0	0	0	0	14852	943	33	0	2602	0	SMG7	1	183515266	Frame_Shift_Ins	INS	-	TCGA-HC-7742-01A-11D-2114-08	307778	183515266	65735355	6	8233											
RYR2	6262	broad.mit.edu	37	chr1	237982395	237982395	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggagggatcggggatgaaatCgaagacccagcaggagatga	14	4	17	6	2	0	4	0	2	0	2	2	9	0	7	1	5	1	1	1	5	2	0			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr1:237982395C>T	ENST00000366574.2	+	101	14810	c.14493C>T	c.(14491-14493)atC>atT	p.I4831I	RYR2_ENST00000360064.6_Silent_p.I4837I|RYR2_ENST00000542537.1_Silent_p.I4815I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4831					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.I4829I(2)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGGATGAAATCGAAGACCCAG	0.413													24	41					0	0	1	0	0	T	237982395	C	T	237982395	2	4	178	1	0	0	0	0	0	0	0	1	13821	874	31	1		1	RYR2	1	237982395	Silent	SNP	C	TCGA-HC-7742-01A-11D-2114-08	54467129	237982395	11268226	7	8234											
APOB	338	broad.mit.edu	37	chr2	21252827	21252827	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtcatcttgaatctgttcCatcaggtaattagcaatgtc	11	14	7	9	0	4	1	2	1	2	0	6	1	5	1	1	1	1	3	1	1	4	4			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr2:21252827C>T	ENST00000233242.1	-	11	1540	c.1413G>A	c.(1411-1413)atG>atA	p.M471I	APOB_ENST00000399256.4_Missense_Mutation_p.M471I	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	471	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GAATCTGTTCCATCAGGTAAT	0.428													11	131					0	0	1	0	0	T	21252827	C	T	21252827	3	4	178	1	0	0	0	0	1	0	0	0	782	594	21	2	12354	2	APOB	2	21252827	Missense_Mutation	SNP	C	TCGA-HC-7742-01A-11D-2114-08		21252827	221946546	8	8235											
TBC1D5	9779	broad.mit.edu	37	chr3	17279892	17279892	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gaccttatttatattcagggGagcacctttggcattggtcc	8	14	10	9	0	1	0	1	0	0	0	2	2	2	1	3	4	1	2	3	4	3	7			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr3:17279892G>A	ENST00000253692.7	-	17	3015	c.1351C>T	c.(1351-1353)Ccc>Tcc	p.P451S	TBC1D5_ENST00000429924.2_Missense_Mutation_p.P403S|TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000446818.2_Missense_Mutation_p.P451S|TBC1D5_ENST00000429383.4_Missense_Mutation_p.P451S	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	451						intracellular	protein binding|Rab GTPase activator activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						ATATTCAGGGGAGCACCTTTG	0.388													12	46					0	0	1	0	0	A	17279892	G	A	17279892	3	1	178	1	0	0	0	0	1	0	0	0	15683	1174	41	2	1130	2	TBC1D5	3	17279892	Missense_Mutation	SNP	G	TCGA-HC-7742-01A-11D-2114-08		17279892	180742538	9	8236											
ROBO1	6091	broad.mit.edu	37	chr3	78708861	78708861	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcttggaccattccatttTgagtgtcttctggaggtggc	6	15	11	9	0	3	1	0	1	3	0	4	3	4	3	2	4	0	0	2	4	0	5			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	6fd7283b-c522-4e98-bfff-740d5d01154b	g.chr3:78708861T>G	ENST00000436010.2	-	15	3297	c.2300A>C	c.(2299-2301)cAa>cCa	p.Q767P	ROBO1_ENST00000467549.1_Missense_Mutation_p.Q770P|ROBO1_ENST00000495273.1_Missense_Mutation_p.Q770P|ROBO1_ENST00000464233.1_Missense_Mutation_p.Q806P			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	806					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CATTCCATTTTGAGTGTCTTC	0.433													6	7					0	0	1	0	0	G	78708861	T	G	78708861	3	3	178	1	0	0	0	0	1	0	0	0	13565	1812	63	5	2598	5	ROBO1	3	78708861	Missense_Mutation	SNP	T	TCGA-HC-7742-01A-11D-2114-08	61428969	78708861	119313569	10	8237											
ALDH1L1	10840	broad.mit.edu	37	chr3	125824675	125824675	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctgcctggagcttgtcactGacatacagggccttgttgat	7	12	11	11	0	1	2	1	2	0	0	1	3	1	3	3	2	3	2	3	2	1	4			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr3:125824675G>A	ENST00000393434.2	-	22	2896	c.2547C>T	c.(2545-2547)gtC>gtT	p.V849V	ALDH1L1-AS1_ENST00000512384.1_RNA|ALDH1L1_ENST00000452905.2_Silent_p.V748V|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000273450.3_Silent_p.V859V|ALDH1L1_ENST00000472186.1_Silent_p.V849V	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	849	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	GCTTGTCACTGACATACAGGG	0.552													5	177					0	0	1	0	0	A	125824675	G	A	125824675	2	1	178	1	0	0	0	0	0	0	0	1	491	1277	45	2		2	ALDH1L1	3	125824675	Silent	SNP	G	TCGA-HC-7742-01A-11D-2114-08	47115814	125824675	72197755	11	8238											
MECOM	2122	broad.mit.edu	37	chr3	168819875	168819875	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatagcgctcctttcccttcCgcagaaggttctctggcagg	6	12	10	13	2	1	1	0	0	1	1	5	1	4	1	3	3	1	4	3	3	3	5			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr3:168819875C>T	ENST00000464456.1	-	9	3353	c.2153G>A	c.(2152-2154)cGg>cAg	p.R718Q	MECOM_ENST00000468789.1_Missense_Mutation_p.R727Q|MECOM_ENST00000460814.1_Missense_Mutation_p.R718Q|MECOM_ENST00000433243.2_Missense_Mutation_p.R728Q|MECOM_ENST00000392736.3_Missense_Mutation_p.R727Q|MECOM_ENST00000472280.1_Missense_Mutation_p.R728Q|MECOM_ENST00000264674.3_Missense_Mutation_p.R792Q|MECOM_ENST00000494292.1_Missense_Mutation_p.R906Q	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CTTTCCCTTCCGCAGAAGGTT	0.502													15	41					0	0	1	0	0	T	168819875	C	T	168819875	3	4	178	1	0	0	0	0	1	0	0	0	9472	652	23	1	1003	1	MECOM	3	168819875	Missense_Mutation	SNP	C	TCGA-HC-7742-01A-11D-2114-08	42995200	168819875	29202555	12	8239											
CRIPAK	285464	broad.mit.edu	37	chr4	1388467	1388468	+	Frame_Shift_Del	DEL	CA	CA	-																															atgtggagtgcccgcctgctCacacgtgcccatgtggagtg																										TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	6fd7283b-c522-4e98-bfff-740d5d01154b	g.chr4:1388467_1388468delCA	ENST00000324803.4	+	1	3128_3129	c.168_169delCA	c.(166-171)ctcafs	p.LT56fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	56					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CCCGCCTGCTCACACGTGCCCA	0.644													8	1017	---	---	---	---						-	1388468	CA	-	1388467	7	5	178	1	0	1	0	1	0	0	0	0	3900	813	29	0	170	0	CRIPAK	4	1388467	Frame_Shift_Del	DEL	CA	TCGA-HC-7742-01A-11D-2114-08		1388467	189765809	13	8240											
GAR1	54433	broad.mit.edu	37	chr4	110737454	110737454	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cggcaatttcagaggcggcgGcaggggaggatttggacgag	9	6	19	7	4	1	1	1	0	0	1	1	5	1	4	0	8	0	2	0	8	1	2			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr4:110737454G>A	ENST00000226796.6	+	2	398	c.134G>A	c.(133-135)gGc>gAc	p.G45D	GAR1_ENST00000394631.3_Missense_Mutation_p.G45D	NM_018983.3	NP_061856.1	Q9NY12	GAR1_HUMAN	GAR1 ribonucleoprotein	45	RGG-box 1.				rRNA processing|snRNA pseudouridine synthesis	box H/ACA snoRNP complex|Cajal body	cation channel activity|pseudouridine synthase activity|snoRNA binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9						agaggcggcggcaggggaggA	0.607													4	57					0	0	1	0	0	A	110737454	G	A	110737454	3	1	178	1	0	0	0	0	1	0	0	0	6280	1203	42	2	136	2	GAR1	4	110737454	Missense_Mutation	SNP	G	TCGA-HC-7742-01A-11D-2114-08	109348987	110737454	80416822	14	8241											
C6	729	broad.mit.edu	37	chr5	41159224	41159224	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgcagtcttcctcttgtcGcttctccccctcacagcgtt	3	15	7	16	2	4	0	1	0	3	0	7	0	5	0	3	0	2	3	3	0	0	4			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr5:41159224G>A	ENST00000263413.3	-	12	2080	c.1816C>T	c.(1816-1818)Cga>Tga	p.R606*	C6_ENST00000337836.5_Nonsense_Mutation_p.R606*	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	606	TSP type-1 3.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TCCTCTTGTCGCTTCTCCCCC	0.468													49	115					0	0	1	0	0	A	41159224	G	A	41159224	4	1	178	1	0	0	0	0	0	1	0	0	2329	1095	38	1	1016	1	C6	5	41159224	Nonsense_Mutation	SNP	G	TCGA-HC-7742-01A-11D-2114-08		41159224	139756036	15	8242											
BNIP1	662	broad.mit.edu	37	chr5	172590800	172590800	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcaccatccagctgggccGgaagcttatcacaaaataca	13	6	10	12	1	1	0	1	0	0	0	2	1	2	1	3	3	3	3	3	3	5	2	rs148150409	byFrequency	TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr5:172590800G>A	ENST00000231668.9	+	7	796	c.692G>A	c.(691-693)cGg>cAg	p.R231Q	BNIP1_ENST00000393770.4_Missense_Mutation_p.R154Q|BNIP1_ENST00000352523.6_Missense_Mutation_p.R197Q|BNIP1_ENST00000351486.5_Missense_Mutation_p.R188Q	NM_013979.2	NP_053582.2	Q12981	SEC20_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 1	188					anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport	integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex	protein binding			breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CAGCTGGGCCGGAAGCTTATC	0.488													3	86					0	0	1	0	0	A	172590800	G	A	172590800	3	1	178	1	0	0	0	0	1	0	0	0	1475	1116	39	1	718	1	BNIP1	5	172590800	Missense_Mutation	SNP	G	TCGA-HC-7742-01A-11D-2114-08	131431576	172590800	8324460	16	8243											
MCHR2	84539	broad.mit.edu	37	chr6	100390896	100390896	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctttaaatttgatgaccttCgagtagacccagacaggcaa	13	11	8	9	1	1	4	0	2	1	2	2	5	1	4	2	1	0	2	2	1	4	5	rs140465249	byFrequency	TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr6:100390896C>T	ENST00000281806.2	-	4	830	c.516G>A	c.(514-516)tcG>tcA	p.S172S	MCHR2_ENST00000369212.1_Silent_p.S172S|MCHR2_ENST00000445970.1_Silent_p.S172S	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	172						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		TGATGACCTTCGAGTAGACCC	0.448													34	95					0	0	1	0	0	T	100390896	C	T	100390896	2	4	178	1	0	0	0	0	0	0	0	1	9433	871	31	1		1	MCHR2	6	100390896	Silent	SNP	C	TCGA-HC-7742-01A-11D-2114-08		100390896	70724171	17	8244											
TNRC18	84629	broad.mit.edu	37	chr7	5352791	5352793	+	In_Frame_Del	DEL	GCT	GCT	-																															tccccttctgtctccgagccGctgctgctgctgctgctgct																										TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr7:5352791_5352793delGCT	ENST00000399537.4	-	27	8077_8079	c.7729_7731delAGC	c.(7729-7731)del	p.S2577del	TNRC18_ENST00000430969.1_In_Frame_Del_p.S2577del			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2577	Ser-rich.						DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TCTCCGAgccgctgctgctgctg	0.69													2	4	---	---	---	---						-	5352793	GCT	-	5352791	7	5	178	1	0	1	0	1	0	0	0	0	16399	1078	38	0	1191	0	TNRC18	7	5352791	In_Frame_Del	DEL	GCT	TCGA-HC-7742-01A-11D-2114-08		5352791	153785872	18	8245											
UPP1	7378	broad.mit.edu	37	chr7	48141449	48141449	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttggtggaagcccctcccGgatgaaagccttcatcaggt	8	10	12	11	1	2	1	2	1	0	0	3	3	3	3	4	4	2	1	4	4	2	2			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr7:48141449G>A	ENST00000331803.4	+	6	814	c.191G>A	c.(190-192)cGg>cAg	p.R64Q	UPP1_ENST00000341253.4_Missense_Mutation_p.R64Q|UPP1_ENST00000429491.2_Intron|UPP1_ENST00000395564.4_Missense_Mutation_p.R64Q|UPP1_ENST00000482015.1_3'UTR			Q16831	UPP1_HUMAN	uridine phosphorylase 1	64					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage	cytosol	uridine phosphorylase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18						AGCCCCTCCCGGATGAAAGCC	0.567													25	73					0	0	1	0	0	A	48141449	G	A	48141449	3	1	178	1	0	0	0	0	1	0	0	0	17072	1116	39	1	201	1	UPP1	7	48141449	Missense_Mutation	SNP	G	TCGA-HC-7742-01A-11D-2114-08	42788658	48141449	110997214	19	8246											
ABCA13	154664	broad.mit.edu	37	chr7	48352729	48352729	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatatagtttccagcctcagCgccttgcttgccaaagccca	9	10	8	14	1	1	0	1	0	0	0	2	1	2	0	5	0	5	2	5	0	3	5			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr7:48352729C>T	ENST00000435803.1	+	25	9606	c.9582C>T	c.(9580-9582)agC>agT	p.S3194S		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3194					transport	integral to membrane	ATP binding|ATPase activity	p.S3139S(1)|p.S3194S(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CCAGCCTCAGCGCCTTGCTTG	0.433													10	18					0	0	1	0	0	T	48352729	C	T	48352729	2	4	178	1	0	0	0	0	0	0	0	1	31	767	27	1		1	ABCA13	7	48352729	Silent	SNP	C	TCGA-HC-7742-01A-11D-2114-08	211280	48352729	110785934	20	8247											
MOGAT3	346606	broad.mit.edu	37	chr7	100839218	100839218	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggctcagcgaaaggccgCggccaggcctagatgaaggt	10	4	17	10	3	1	2	1	1	0	1	1	3	1	2	3	6	1	1	3	6	3	1			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr7:100839218C>T	ENST00000379423.3	-	6	892	c.832G>A	c.(832-834)Gcg>Acg	p.A278T	MOGAT3_ENST00000440203.2_3'UTR|MOGAT3_ENST00000223114.4_3'UTR			Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	0					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					CGAAAGGCCGCGGCCAGGCCT	0.627													32	83					0	0	1	0	0	T	100839218	C	T	100839218	3	4	178	1	0	0	0	0	1	0	0	0	9745	783	27	1		1	MOGAT3	7	100839218	Missense_Mutation	SNP	C	TCGA-HC-7742-01A-11D-2114-08	52486489	100839218	58299445	21	8248											
BRAF	673	broad.mit.edu	37	chr7	140453122	140453133	+	In_Frame_Del	DEL	TCCATCGAGATT	TCCATCGAGATT	-																															ttcaaactgatgggacccacTccatcgagatttcactgtag																								rs121913365		TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr7:140453122_140453133delTCCATCGAGATT	ENST00000288602.6	-	15	1862_1873	c.1802_1813delAATCTCGATGGA	c.(1801-1815)agt>a	p.KSRWS601del		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	601	Protein kinase.		K -> E (in colorectal cancer).|K -> Q (in CFC syndrome).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.K601N(10)|p.R603*(4)|p.S605G(3)|p.T599_R603>I(2)|p.W604del(2)|p.S605F(2)|p.W604G(2)|p.W604R(1)|p.K601I(1)|p.K601K(1)|p.K601del(1)|p.S602S(1)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.W604*(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TGGGACCCACTCCATCGAGATTTCACTGTAGC	0.382	K601N(U266B1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				8	93	---	---	---	---						-	140453133	TCCATCGAGATT	-	140453122	7	5	178	1	0	1	0	1	0	0	0	0	1498	1551	54	0	503	0	BRAF	7	140453122	In_Frame_Del	DEL	TCCATCGAGATT	TCGA-HC-7742-01A-11D-2114-08	39613904	140453122	18685541	22	8249											
OR2F2	135948	broad.mit.edu	37	chr7	143632698	143632698	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggcctatgaccgccatgtgGctgtgtctgaccgcctgcga	5	10	13	13	3	1	2	0	2	1	0	1	3	1	2	5	2	1	1	5	2	1	1			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr7:143632698G>A	ENST00000408955.2	+	1	440	c.373G>A	c.(373-375)Gct>Act	p.A125T		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					CCGCCATGTGGCTGTGTCTGA	0.557													35	89					0	0	1	0	0	A	143632698	G	A	143632698	3	1	178	1	0	0	0	0	1	0	0	0	11045	1203	42	2	375	2	OR2F2	7	143632698	Missense_Mutation	SNP	G	TCGA-HC-7742-01A-11D-2114-08	3179576	143632698	15505965	23	8250											
LRRC61	65999	broad.mit.edu	37	chr7	150034141	150034141	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggacctatcaggcaacgCgctcacccacctgggcccgc	7	5	11	18	3	2	0	2	0	0	0	2	1	2	1	4	3	1	3	4	3	2	1			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr7:150034141C>T	ENST00000359623.4	+	3	779	c.191C>T	c.(190-192)gCg>gTg	p.A64V	LRRC61_ENST00000323078.7_Missense_Mutation_p.A64V|LRRC61_ENST00000493307.1_Missense_Mutation_p.A64V	NM_001142928.1	NP_001136400.1	Q9BV99	LRC61_HUMAN	leucine rich repeat containing 61	64										endometrium(2)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			TCAGGCAACGCGCTCACCCAC	0.652													4	114					0	0	1	0	0	T	150034141	C	T	150034141	3	4	178	1	0	0	0	0	1	0	0	0	9062	768	27	1	193	1	LRRC61	7	150034141	Missense_Mutation	SNP	C	TCGA-HC-7742-01A-11D-2114-08	6401443	150034141	9104522	24	8251											
ELAVL2	1993	broad.mit.edu	37	chr9	23731123	23731123	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agccatatcccaagctctgcCctaatgaaaaggaaggggaa	15	6	10	10	0	1	1	0	1	1	0	2	3	2	3	3	3	3	1	3	3	7	2			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr9:23731123C>G	ENST00000397312.2	-	3	504	c.229_splice	c.e3-1	p.G77_splice	ELAVL2_ENST00000380110.4_Splice_Site_p.G106_splice|ELAVL2_ENST00000380117.1_Splice_Site_p.G77_splice|ELAVL2_ENST00000544538.1_Splice_Site_p.G77_splice|ELAVL2_ENST00000223951.6_Splice_Site_p.G77_splice	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	77	RRM 1.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		CAAGCTCTGCCCTAATGAAAA	0.393													17	28					0	0	1	0	0	G	23731123	C	G	23731123	5	3	178	1	0	0	0	0	0	0	1	0	5078	637	22	4	869	4	ELAVL2	9	23731123	Splice_Site	SNP	C	TCGA-HC-7742-01A-11D-2114-08		23731123	117482308	25	8252											
ACTL7B	10880	broad.mit.edu	37	chr9	111617150	111617150	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctcagctccctctggaagCgctcggggaagccatccagc	7	6	13	15	2	2	0	1	0	1	0	5	2	4	2	3	4	4	3	3	4	2	0			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr9:111617150C>T	ENST00000374667.3	-	1	2089	c.1061G>A	c.(1060-1062)cGc>cAc	p.R354H		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	354						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton	p.R354H(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CCTCTGGAAGCGCTCGGGGAA	0.677													16	40					0	0	1	0	0	T	111617150	C	T	111617150	3	4	178	1	0	0	0	0	1	0	0	0	201	768	27	1	190	1	ACTL7B	9	111617150	Missense_Mutation	SNP	C	TCGA-HC-7742-01A-11D-2114-08	87886027	111617150	29596281	26	8253											
C9orf172	389813	broad.mit.edu	37	chr9	139740894	139740894	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccggcgcaccgagaccatGttcaacgcctgcctctactt	7	9	9	16	4	2	1	1	0	1	1	2	2	2	1	5	1	4	2	5	1	2	3			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr9:139740894G>T	ENST00000436881.1	+	1	2028	c.2028G>T	c.(2026-2028)atG>atT	p.M676I		NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	676										endometrium(2)|large_intestine(1)|lung(6)	9						CCGAGACCATGTTCAACGCCT	0.692													3	48					1	1	1	1	0	T	139740894	G	T	139740894	3	4	178	1	0	0	0	0	1	0	0	0	2489	1377	48	4	2030	4	C9orf172	9	139740894	Missense_Mutation	SNP	G	TCGA-HC-7742-01A-11D-2114-08	28123744	139740894	1472537	27	8254											
MYPN	84665	broad.mit.edu	37	chr10	69881296	69881296	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaaacaatgagaggagtcGagcggagccctcctccaacc	12	4	13	12	2	0	1	0	1	0	1	3	6	2	4	4	3	4	0	4	3	3	0			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr10:69881296G>T	ENST00000358913.5	+	2	589	c.101G>T	c.(100-102)cGa>cTa	p.R34L	MYPN_ENST00000354393.2_Intron|MYPN_ENST00000540630.1_Missense_Mutation_p.R34L|MYPN_ENST00000373675.3_Missense_Mutation_p.R34L	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	34	Interaction with CARP.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						GAGAGGAGTCGAGCGGAGCCC	0.522													3	77					0.115264	0.119308	1	1	0	T	69881296	G	T	69881296	3	4	178	1	0	0	0	0	1	0	0	0	10146	1058	37	4	103	4	MYPN	10	69881296	Missense_Mutation	SNP	G	TCGA-HC-7742-01A-11D-2114-08		69881296	65653451	28	8255											
SEC31B	25956	broad.mit.edu	37	chr10	102248628	102248628	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacttactaagtcagttgcaGacagggagcagcgttggaga	12	8	14	7	1	1	2	1	0	0	2	1	5	1	3	0	2	4	4	0	2	2	4			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr10:102248628G>T	ENST00000370345.3	-	24	3372	c.3275C>A	c.(3274-3276)tCt>tAt	p.S1092Y		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	1092					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		GTCAGTTGCAGACAGGGAGCA	0.577													35	62					6.04917e-29	6.73399e-29	1	1	0	T	102248628	G	T	102248628	3	4	178	1	0	0	0	0	1	0	0	0	14053	942	33	4	276	4	SEC31B	10	102248628	Missense_Mutation	SNP	G	TCGA-HC-7742-01A-11D-2114-08	32367332	102248628	33286119	29	8256											
TSPAN4	0	broad.mit.edu	37	chr11	864455	864455	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttcttcctgctgctgctgCtggtgttcctgctggaggcc	2	14	13	12	0	1	0	0	0	1	0	3	1	3	1	3	3	5	7	3	3	0	3			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr11:864455C>G	ENST00000397404.1	+	5	533	c.274C>G	c.(274-276)Ctg>Gtg	p.L92V	TSPAN4_ENST00000346501.4_Missense_Mutation_p.L92V|TSPAN4_ENST00000397408.1_Missense_Mutation_p.L92V|TSPAN4_ENST00000397396.1_Missense_Mutation_p.L28V|TSPAN4_ENST00000397406.1_Missense_Mutation_p.L92V|TSPAN4_ENST00000525201.1_Missense_Mutation_p.L28V|TSPAN4_ENST00000397411.2_Missense_Mutation_p.L92V|TSPAN4_ENST00000409531.1_Missense_Mutation_p.L111V|TSPAN4_ENST00000409543.2_Missense_Mutation_p.L92V|TSPAN4_ENST00000397397.2_Missense_Mutation_p.L92V	NM_001025237.1	NP_001020408.1	O14817	TSN4_HUMAN	tetraspanin 4	92					protein complex assembly	integral to plasma membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCTGCTGCTGCTGGTGTTCCT	0.672													4	180					0	0	1	0	0	G	864455	C	G	864455	3	3	178	1	0	0	0	0	1	0	0	0	16710	796	28	4	284	4	TSPAN4	11	864455	Missense_Mutation	SNP	C	TCGA-HC-7742-01A-11D-2114-08		864455	134142061	30	8257											
TRPM5	29850	broad.mit.edu	37	chr11	2432663	2432663	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggaagatccactccaggcGgccgtcatgggggtgcagca	8	5	16	12	3	1	1	1	0	0	1	3	2	3	2	3	5	2	2	3	5	1	0			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr11:2432663G>A	ENST00000452833.1	-	18	2715	c.2707C>T	c.(2707-2709)Cgc>Tgc	p.R903C	TRPM5_ENST00000533060.1_Missense_Mutation_p.R901C|TRPM5_ENST00000155858.6_Missense_Mutation_p.R901C|TRPM5_ENST00000528453.1_Missense_Mutation_p.R901C			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	901						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		CACTCCAGGCGGCCGTCATGG	0.617													19	27					0	0	1	0	0	A	2432663	G	A	2432663	3	1	178	1	0	0	0	0	1	0	0	0	16650	1116	39	1	824	1	TRPM5	11	2432663	Missense_Mutation	SNP	G	TCGA-HC-7742-01A-11D-2114-08	1568208	2432663	132573853	31	8258											
RAG1	5896	broad.mit.edu	37	chr11	36595849	36595849	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagctattgtccctcttgccGatatccatgcttccctactg	6	14	6	15	1	1	0	0	0	1	0	4	1	4	0	4	0	4	2	4	0	3	6			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr11:36595849G>A	ENST00000299440.5	+	2	1107	c.995G>A	c.(994-996)cGa>cAa	p.R332Q		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	332					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				CCCTCTTGCCGATATCCATGC	0.498									Familial Hemophagocytic Lymphohistiocytosis				25	43					0	0	1	0	0	A	36595849	G	A	36595849	3	1	178	1	0	0	0	0	1	0	0	0	13055	1058	37	1	997	1	RAG1	11	36595849	Missense_Mutation	SNP	G	TCGA-HC-7742-01A-11D-2114-08	34163186	36595849	98410667	32	8259											
USP2	9099	broad.mit.edu	37	chr11	119227592	119227592	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgtagaagagcaggtaggCgtcgctggtgcgcacttggc	7	9	16	9	4	0	2	0	0	0	2	2	2	0	2	0	4	2	5	0	4	3	4			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr11:119227592C>T	ENST00000260187.2	-	13	2065	c.1771G>A	c.(1771-1773)Gcc>Acc	p.A591T	USP2_ENST00000525735.1_Missense_Mutation_p.A382T|USP2_ENST00000455332.2_Missense_Mutation_p.A348T	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	591					cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		AGCAGGTAGGCGTCGCTGGTG	0.692											OREG0021404	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	4					0	0	1	0	0	T	119227592	C	T	119227592	3	4	178	1	0	0	0	0	1	0	0	0	17111	768	27	1	50	1	USP2	11	119227592	Missense_Mutation	SNP	C	TCGA-HC-7742-01A-11D-2114-08	82631743	119227592	15778924	33	8260											
TMEM132B	114795	broad.mit.edu	37	chr12	126138738	126138738	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgtatgccttgctctgcGtcttctgtctggccattctg	3	16	10	12	1	5	0	0	0	5	0	5	0	5	0	2	1	3	3	2	1	1	4			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr12:126138738G>A	ENST00000299308.3	+	9	2727	c.2719G>A	c.(2719-2721)Gtc>Atc	p.V907I	TMEM132B_ENST00000535886.1_Missense_Mutation_p.V419I	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	907						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CTTGCTCTGCGTCTTCTGTCT	0.522													26	57					0	0	1	0	0	A	126138738	G	A	126138738	3	1	178	1	0	0	0	0	1	0	0	0	16106	1145	40	1	2753	1	TMEM132B	12	126138738	Missense_Mutation	SNP	G	TCGA-HC-7742-01A-11D-2114-08		126138738	7713157	34	8261											
TSC22D1	8848	broad.mit.edu	37	chr13	45148696	45148696	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agagctggttgttgctgttgTtgttgttgttgctgctgctg	2	19	15	5	0	0	1	0	0	0	1	0	1	0	1	0	1	5	12	0	1	0	7			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr13:45148696T>C	ENST00000458659.2	-	1	2005	c.1515A>G	c.(1513-1515)caA>caG	p.Q505Q	TSC22D1_ENST00000501704.2_Silent_p.Q505Q	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	505	Gln-rich.				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		gttgctgttgttgttgttgtt	0.507													42	80					0	0	1	0	0	C	45148696	T	C	45148696	2	2	178	1	0	0	0	0	0	0	0	1	16668	1722	60	3		3	TSC22D1	13	45148696	Silent	SNP	T	TCGA-HC-7742-01A-11D-2114-08		45148696	70021182	35	8262											
PACS2	23241	broad.mit.edu	37	chr14	105849745	105849745	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccgtgaagatcgccgtggcgGgagcgcagcattacctcagt	8	7	14	12	5	1	2	1	1	0	1	2	3	1	3	3	2	3	2	3	2	2	1			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr14:105849745G>A	ENST00000447393.1	+	16	1850	c.1675G>A	c.(1675-1677)Gga>Aga	p.G559R	PACS2_ENST00000551743.1_Missense_Mutation_p.G69R|PACS2_ENST00000430725.2_Missense_Mutation_p.G480R|PACS2_ENST00000547217.1_Missense_Mutation_p.G525R|PACS2_ENST00000325438.8_Missense_Mutation_p.G555R|PACS2_ENST00000458164.2_Missense_Mutation_p.G559R	NM_015197.3	NP_056012.2	Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	555					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		CGCCGTGGCGGGAGCGCAGCA	0.642													3	111					0	0	1	0	0	A	105849745	G	A	105849745	3	1	178	1	0	0	0	0	1	0	0	0	11420	1233	43	2	1737	2	PACS2	14	105849745	Missense_Mutation	SNP	G	TCGA-HC-7742-01A-11D-2114-08		105849745	1499795	36	8263											
IGDCC3	9543	broad.mit.edu	37	chr15	65667629	65667629	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cattcttcctccaggtgattCgcactggaggggtcccctcc	5	11	10	15	1	1	1	0	1	1	0	6	2	5	2	5	4	0	1	5	4	0	3			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr15:65667629C>T	ENST00000327987.4	-	2	466	c.215G>A	c.(214-216)cGa>cAa	p.R72Q		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	72	Ig-like C2-type 1.									breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CCAGGTGATTCGCACTGGAGG	0.592													13	32					0	0	1	0	0	T	65667629	C	T	65667629	3	4	178	1	0	0	0	0	1	0	0	0	7612	884	31	1	2281	1	IGDCC3	15	65667629	Missense_Mutation	SNP	C	TCGA-HC-7742-01A-11D-2114-08		65667629	36863763	37	8264											
TMEM102	284114	broad.mit.edu	37	chr17	7340279	7340279	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtggtgtccgtggcgggctgGcccgagggggctcggagcca	3	6	21	11	4	0	0	0	0	0	0	2	2	1	1	3	7	1	2	3	7	0	0			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr17:7340279G>T	ENST00000323206.1	+	3	1254	c.981G>T	c.(979-981)tgG>tgT	p.W327C	RP11-104H15.7_ENST00000575310.1_RNA|RP11-104H15.9_ENST00000570444.1_RNA|TMEM102_ENST00000396568.1_Missense_Mutation_p.W327C	NM_178518.2	NP_848613.1	Q8N9M5	TM102_HUMAN	transmembrane protein 102	327					regulation of apoptosis|response to cytokine stimulus|signal transduction	cell surface|integral to membrane|intracellular	protein binding			kidney(1)|lung(3)|skin(1)	5		Prostate(122;0.173)				TGGCGGGCTGGCCCGAGGGGG	0.726													3	18					0.000602214	0.000634476	1	1	0	T	7340279	G	T	7340279	3	4	178	1	0	0	0	0	1	0	0	0	16077	1212	42	4	987	4	TMEM102	17	7340279	Missense_Mutation	SNP	G	TCGA-HC-7742-01A-11D-2114-08		7340279	73854931	38	8265											
TP53	7157	broad.mit.edu	37	chr17	7578222	7578223	+	Frame_Shift_Del	DEL	TC	TC	-																															acactatgtcgaaaagtgttTctgtcatccaaatactccac																										TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr17:7578222_7578223delTC	ENST00000420246.2	-	6	758_759	c.626_627delGA	c.(625-627)afs	p.R209fs	TP53_ENST00000269305.4_Frame_Shift_Del_p.R209fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.R209fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.R209fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.R209fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.R209fs|TP53_ENST00000574684.1_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	209	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> I (in sporadic cancers; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).|R -> T (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R209fs*6(38)|p.0?(8)|p.R209K(7)|p.?(5)|p.R209T(3)|p.R77fs*6(2)|p.R209fs*35(2)|p.D207fs*6(2)|p.R209fs*38(2)|p.R116fs*6(2)|p.R77K(1)|p.R116K(1)|p.E204_N210delEYLDDRN(1)|p.R209fs*36(1)|p.D207_R213delDDRNTFR(1)|p.D208_V216delDRNTFRHSV(1)|p.D208fs*1(1)|p.N210fs*7(1)|p.R209S(1)|p.R209I(1)|p.R209_R213delRNTFR(1)|p.D207_V216del10(1)|p.R209fs*5(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)		GAAAAGTGTTTCTGTCATCCAA	0.535		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)			40	42	---	---	---	---						-	7578223	TC	-	7578222	7	5	178	1	0	1	0	1	0	0	0	0	16442	1780	62	0	667	0	TP53	17	7578222	Frame_Shift_Del	DEL	TC	TCGA-HC-7742-01A-11D-2114-08	237943	7578222	73616988	39	8266											
COASY	80347	broad.mit.edu	37	chr17	40717505	40717505	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggaaagcgtgtgtgtgtGattgatgccgctgtgttgct	7	13	15	6	2	0	2	0	2	0	0	0	3	0	3	1	1	3	3	1	1	1	2			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr17:40717505G>T	ENST00000393818.2	+	7	1860	c.1404G>T	c.(1402-1404)gtG>gtT	p.V468V	COASY_ENST00000420359.1_Silent_p.V468V|COASY_ENST00000421097.2_Silent_p.V468V|COASY_ENST00000590958.1_Silent_p.V497V|COASY_ENST00000449624.1_Silent_p.V173V	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	468	DPCK.				coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		GTGTGTGTGTGATTGATGCCG	0.612													17	49					1.33834e-09	1.43567e-09	1	1	0	T	40717505	G	T	40717505	2	4	178	1	0	0	0	0	0	0	0	1	3675	1277	45	4		4	COASY	17	40717505	Silent	SNP	G	TCGA-HC-7742-01A-11D-2114-08	33139283	40717505	40477705	40	8267											
MRPL54	116541	broad.mit.edu	37	chr19	3762707	3762707	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcaatacgtcatggcgacCaaacgccttttcggggctac	9	8	10	14	5	1	0	1	0	0	0	2	1	1	0	3	3	3	2	3	3	4	4			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr19:3762707C>G	ENST00000330133.4	+	1	46	c.9C>G	c.(7-9)acC>acG	p.T3T		NM_172251.2	NP_758455.1	Q6P161	RM54_HUMAN	mitochondrial ribosomal protein L54	3						mitochondrion|ribosome				breast(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		TCATGGCGACCAAACGCCTTT	0.632													37	105					0	0	1	0	0	G	3762707	C	G	3762707	2	3	178	1	0	0	0	0	0	0	0	1	9867	581	21	4		4	MRPL54	19	3762707	Silent	SNP	C	TCGA-HC-7742-01A-11D-2114-08		3762707	55366276	41	8268											
WDR83	84292	broad.mit.edu	37	chr19	12780860	12780860	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggaacccgcttcgggggaCgctgctgcggacgtacagcg	6	6	17	12	6	0	0	0	0	0	0	1	3	0	3	1	4	5	4	1	4	2	2			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr19:12780860C>A	ENST00000418543.3	+	4	522	c.173C>A	c.(172-174)aCg>aAg	p.T58K	WDR83_ENST00000242796.4_Missense_Mutation_p.T58K|WDR83OS_ENST00000596731.1_5'UTR	NM_001099737.2	NP_001093207.1	Q9BRX9	WDR83_HUMAN	WD repeat domain 83	58					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytoplasm				breast(2)|large_intestine(1)|lung(1)	4						CTTCGGGGGACGCTGCTGCGG	0.677													3	75					1	1	1	1	0	A	12780860	C	A	12780860	3	1	178	1	0	0	0	0	1	0	0	0	17392	536	19	4	179	4	WDR83	19	12780860	Missense_Mutation	SNP	C	TCGA-HC-7742-01A-11D-2114-08	9018153	12780860	46348123	42	8269											
ZNF296	162979	broad.mit.edu	37	chr19	45579626	45579626	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcgctgccggccttgcggcgGgacatgagtcgcgggccggg	3	5	20	13	7	0	1	0	1	0	0	1	2	0	2	3	5	2	1	3	5	0	1			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr19:45579626G>A	ENST00000303809.2	-	1	220	c.6C>T	c.(4-6)tcC>tcT	p.S2S		NM_145288.1	NP_660331.1	Q8WUU4	ZN296_HUMAN	zinc finger protein 296	2					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|lung(3)|prostate(1)|urinary_tract(2)	7						CCTTGCGGCGGGACATGAGTC	0.751													3	41					0	0	1	0	0	A	45579626	G	A	45579626	2	1	178	1	0	0	0	0	0	0	0	1	17885	1219	43	2		2	ZNF296	19	45579626	Silent	SNP	G	TCGA-HC-7742-01A-11D-2114-08	32798766	45579626	13549357	43	8270											
KLK6	5653	broad.mit.edu	37	chr19	51462556	51462556	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtggtctccacataccagcGgacccccagaatcaccctgc	9	6	9	17	1	2	1	1	0	1	1	3	2	2	2	5	3	3	0	5	3	2	1			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr19:51462556G>A	ENST00000376851.3	-	6	1038	c.599C>T	c.(598-600)cCg>cTg	p.P200L	KLK6_ENST00000456750.2_Missense_Mutation_p.P93L|CTB-147C22.8_ENST00000601506.1_RNA|KLK6_ENST00000376853.4_Missense_Mutation_p.R72C|KLK6_ENST00000310157.2_Missense_Mutation_p.P200L|KLK6_ENST00000391808.1_Missense_Mutation_p.P93L|KLK6_ENST00000594641.1_Missense_Mutation_p.P200L	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6	200	Peptidase S1.				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity	p.P200L(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		ACATACCAGCGGACCCCCAGA	0.527													18	37					0	0	1	0	0	A	51462556	G	A	51462556	3	1	178	1	0	0	0	0	1	0	0	0	8451	1116	39	1	139	1	KLK6	19	51462556	Missense_Mutation	SNP	G	TCGA-HC-7742-01A-11D-2114-08	5882930	51462556	7666427	44	8271											
ENTPD6	0	broad.mit.edu	37	chr20	25205809	25205809	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcccccaggtgggagtcacCtggagcgtgaagggacgtgt	7	6	17	11	3	1	1	1	1	0	0	1	4	1	4	3	4	1	0	3	4	1	0			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr20:25205809C>G	ENST00000433259.2	+	13	1279	c.1153C>G	c.(1153-1155)Ctg>Gtg	p.L385V	ENTPD6_ENST00000376652.4_Intron|ENTPD6_ENST00000354989.5_Intron|ENTPD6_ENST00000485936.1_Intron|ENTPD6_ENST00000360031.2_Intron			O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	419						Golgi membrane|integral to membrane	nucleoside-diphosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						TGGGAGTCACCTGGAGCGTGA	0.642													5	7					0	0	1	0	0	G	25205809	C	G	25205809	3	3	178	1	0	0	0	0	1	0	0	0	5171	696	24	4		4	ENTPD6	20	25205809	Missense_Mutation	SNP	C	TCGA-HC-7742-01A-11D-2114-08		25205809	37819711	45	8272											
SBF1	6305	broad.mit.edu	37	chr22	50893710	50893710	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgaagccgctgctctgcccGgccagggtgtgagctccacg	5	7	15	14	3	1	2	0	2	1	0	2	2	2	2	4	2	4	3	4	2	1	0			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chr22:50893710G>A	ENST00000380817.2	-	33	4680	c.4497C>T	c.(4495-4497)gcC>gcT	p.A1499A	SBF1_ENST00000348911.6_Silent_p.A1474A|SBF1_ENST00000390679.3_Silent_p.A1473A	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	1473	Myotubularin phosphatase.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		TGCTCTGCCCGGCCAGGGTGT	0.667													4	32					0	0	1	0	0	A	50893710	G	A	50893710	2	1	178	1	0	0	0	0	0	0	0	1	13911	1103	39	1		1	SBF1	22	50893710	Silent	SNP	G	TCGA-HC-7742-01A-11D-2114-08		50893710	410856	46	8273											
HMGB3	3149	broad.mit.edu	37	chrX	150156360	150156360	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagaggaggaggaagaagaGgaggaggaggaggaggagga	17	0	24	0	0	0	3	0	0	0	3	0	14	0	13	0	10	0	0	0	10	3	0			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	6fd7283b-c522-4e98-bfff-740d5d01154b	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443													3	24					0	0	1	0	0	A	150156360	G	A	150156360	2	1	178	1	0	0	0	0	0	0	0	1	7268	991	35	2		2	HMGB3	23	150156360	Silent	SNP	G	TCGA-HC-7742-01A-11D-2114-08		150156360	5114200	47	8274											
IRAK1	3654	broad.mit.edu	37	chrX	153278063	153278063	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcttctggaccatcttctgtCgggcagggttgatgataatc	7	13	12	9	1	3	2	0	2	3	0	5	3	3	3	1	3	0	3	1	3	1	4			TCGA-HC-7742-01A-11D-2114-08	TCGA-HC-7742-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b134ed52-c6fa-45eb-a4af-1d84cbf013d8	c8565d71-27c7-400a-bd9b-97fd79a7e8e7	g.chrX:153278063C>T	ENST00000369980.3	-	13	2164	c.1997G>A	c.(1996-1998)cGa>cAa	p.R666Q	IRAK1_ENST00000429936.2_Missense_Mutation_p.R662Q|IRAK1_ENST00000393687.2_Missense_Mutation_p.R636Q|IRAK1_ENST00000393682.1_Missense_Mutation_p.R647Q|IRAK1_ENST00000477274.1_Intron|IRAK1_ENST00000369974.2_Missense_Mutation_p.R587Q	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	666					activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CATCTTCTGTCGGGCAGGGTT	0.632													31	30					0	0	1	0	0	T	153278063	C	T	153278063	3	4	178	1	0	0	0	0	1	0	0	0	7865	884	31	1	149	1	IRAK1	23	153278063	Missense_Mutation	SNP	C	TCGA-HC-7742-01A-11D-2114-08	3121703	153278063	1992497	48	8275											
TTLL10	254173	broad.mit.edu	37	chr1	1117795	1117795	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccgcctggacctcaaacaCgagagagaggcctttttcac	11	8	9	13	2	2	2	2	0	0	2	2	5	2	3	4	2	2	0	4	2	2	3	rs139967804		TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr1:1117795C>G	ENST00000379290.1	+	10	1058	c.885C>G	c.(883-885)caC>caG	p.H295Q	TTLL10_ENST00000379288.3_Missense_Mutation_p.H222Q|TTLL10_ENST00000379289.1_Missense_Mutation_p.H295Q			Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	295	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		ACCTCAAACACGAGAGAGAGG	0.622													15	106					0	0	1	0	0	G	1117795	C	G	1117795	3	3	179	1	0	0	0	0	1	0	0	0	16785	535	19	4	911	4	TTLL10	1	1117795	Missense_Mutation	SNP	C	TCGA-HC-7744-01A-11D-2114-08		1117795	248132826	1	8276											
UBR4	23352	broad.mit.edu	37	chr1	19499502	19499502	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctggacctttgagatcgcgGcatcaagggtgtagatggac	9	9	14	9	2	1	2	1	1	0	2	2	5	1	4	2	4	0	2	2	4	2	2			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr1:19499502G>A	ENST00000375267.2	-	25	3380	c.3377C>T	c.(3376-3378)gCc>gTc	p.A1126V	UBR4_ENST00000375254.3_Missense_Mutation_p.A1126V|UBR4_ENST00000375217.2_Missense_Mutation_p.A1126V|UBR4_ENST00000375226.2_Missense_Mutation_p.A1126V			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1126					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TGAGATCGCGGCATCAAGGGT	0.443													3	45					0	0	1	0	0	A	19499502	G	A	19499502	3	1	179	1	0	0	0	0	1	0	0	0	16965	1203	42	2	12502	2	UBR4	1	19499502	Missense_Mutation	SNP	G	TCGA-HC-7744-01A-11D-2114-08	18381707	19499502	229751119	2	8277											
TRIT1	54802	broad.mit.edu	37	chr1	40318533	40318533	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggtcaatcactttctcagTgcccatctcctggggctatt	6	14	8	13	1	4	0	3	0	2	0	7	0	4	0	2	3	1	1	2	3	2	3			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr1:40318533T>A	ENST00000316891.5	-	4	444	c.430A>T	c.(430-432)Act>Tct	p.T144S	TRIT1_ENST00000372818.1_Missense_Mutation_p.T144S|TRIT1_ENST00000441669.2_Missense_Mutation_p.T64S|TRIT1_ENST00000545233.1_Intron|TRIT1_ENST00000544981.1_Intron|TRIT1_ENST00000541099.1_Intron|TRIT1_ENST00000537440.1_Intron|TRIT1_ENST00000537223.1_Intron|TRIT1_ENST00000491865.1_Intron	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	144					tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			ACTTTCTCAGTGCCCATCTCC	0.453													47	104					0	0	1	0	0	A	40318533	T	A	40318533	3	1	179	1	0	0	0	0	1	0	0	0	16621	1696	59	5	1005	5	TRIT1	1	40318533	Missense_Mutation	SNP	T	TCGA-HC-7744-01A-11D-2114-08	20819031	40318533	208932088	3	8278											
EPS8L3	79574	broad.mit.edu	37	chr1	110301232	110301232	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatagggagcggcctttccAtagcaggccccctccatctg	7	8	10	16	1	1	0	0	0	1	0	3	1	3	1	6	3	2	1	6	3	2	3			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr1:110301232A>G	ENST00000369805.3	-	7	747	c.518T>C	c.(517-519)aTg>aCg	p.M173T	EPS8L3_ENST00000494151.1_5'UTR|EPS8L3_ENST00000361965.4_Missense_Mutation_p.M172T|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361852.4_Missense_Mutation_p.M172T	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN	EPS8-like 3	172	Pro-rich.					cytoplasm	protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		CGGCCTTTCCATAGCAGGCCC	0.597													24	42					0	0	1	0	0	G	110301232	A	G	110301232	3	3	179	1	0	0	0	0	1	0	0	0	5225	217	8	3	1318	3	EPS8L3	1	110301232	Missense_Mutation	SNP	A	TCGA-HC-7744-01A-11D-2114-08	69982699	110301232	138949389	4	8279											
NOTCH2NL	388677	broad.mit.edu	37	chr1	145281379	145281379	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttcctttaggtaaggagtgCcaatggaccgatgcctgcct	8	11	11	11	1	0	0	0	0	0	0	1	3	1	2	5	3	3	1	5	3	3	4			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr1:145281379C>G	ENST00000369340.3	+	5	753	c.309C>G	c.(307-309)tgC>tgG	p.C103W	NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.C103W|NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.C103W|RP11-458D21.5_ENST00000468030.1_Missense_Mutation_p.C103W			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	103	EGF-like 3.				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						GTAAGGAGTGCCAATGGACCG	0.507													63	641					0	0	1	0	0	G	145281379	C	G	145281379	3	3	179	1	0	0	0	0	1	0	0	0	10596	747	26	4	319	4	NOTCH2NL	1	145281379	Missense_Mutation	SNP	C	TCGA-HC-7744-01A-11D-2114-08	34980147	145281379	103969242	5	8280											
SPTA1	6708	broad.mit.edu	37	chr1	158615323	158615323	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatctctatgccagttaagtCttcggccagctcctgtgatg	7	13	10	11	1	2	1	0	1	2	0	5	2	3	1	3	1	2	2	3	1	2	3			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr1:158615323C>G	ENST00000368148.3	-	28	4138	c.3958G>C	c.(3958-3960)Gac>Cac	p.D1320H	SPTA1_ENST00000368147.3_Missense_Mutation_p.D1320H	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1320					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCAGTTAAGTCTTCGGCCAGC	0.418													9	157					0	0	1	0	0	G	158615323	C	G	158615323	3	3	179	1	0	0	0	0	1	0	0	0	15172	913	32	4	3401	4	SPTA1	1	158615323	Missense_Mutation	SNP	C	TCGA-HC-7744-01A-11D-2114-08	13333944	158615323	90635298	6	8281											
VANGL2	57216	broad.mit.edu	37	chr1	160385959	160385959	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctggacaatgagtccacacGaggggatgagcgggtgagca	11	5	17	8	2	0	3	0	3	0	0	1	6	1	5	1	4	2	2	1	4	1	0			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr1:160385959G>A	ENST00000368061.2	+	3	653	c.179G>A	c.(178-180)cGa>cAa	p.R60Q		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	60					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GAGTCCACACGAGGGGATGAG	0.657													29	68					0	0	1	0	0	A	160385959	G	A	160385959	3	1	179	1	0	0	0	0	1	0	0	0	17180	1058	37	1	185	1	VANGL2	1	160385959	Missense_Mutation	SNP	G	TCGA-HC-7744-01A-11D-2114-08	1770636	160385959	88864662	7	8282											
SLC30A10	55532	broad.mit.edu	37	chr1	220091782	220091782	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacatagaatatgatggccGtgatgaccacaaccacggac	14	6	10	11	2	0	4	0	3	0	1	0	5	0	5	3	2	1	1	3	2	4	2			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr1:220091782G>A	ENST00000366926.3	-	3	934	c.773C>T	c.(772-774)aCg>aTg	p.T258M	SLC30A10_ENST00000536446.1_Missense_Mutation_p.T13M|SLC30A10_ENST00000484079.1_5'UTR	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	258					zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		TATGATGGCCGTGATGACCAC	0.512													52	88					0	0	1	0	0	A	220091782	G	A	220091782	3	1	179	1	0	0	0	0	1	0	0	0	14609	1145	40	1	692	1	SLC30A10	1	220091782	Missense_Mutation	SNP	G	TCGA-HC-7744-01A-11D-2114-08	59705823	220091782	29158839	8	8283											
ARID4B	51742	broad.mit.edu	37	chr1	235338686	235338686	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagttatactttcaccagcTgaaagttcttcactatcact	11	16	4	10	0	4	1	3	1	1	0	4	1	4	1	1	0	2	3	1	0	5	7			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr1:235338686T>G	ENST00000264183.3	-	22	3974	c.3477A>C	c.(3475-3477)tcA>tcC	p.S1159S	ARID4B_ENST00000366603.2_Silent_p.S1159S|ARID4B_ENST00000349213.3_Silent_p.S1073S	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	1159					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TTTCACCAGCTGAAAGTTCTT	0.353													4	103					0	0	1	0	0	G	235338686	T	G	235338686	2	3	179	1	0	0	0	0	0	0	0	1	917	1567	55	5		5	ARID4B	1	235338686	Silent	SNP	T	TCGA-HC-7744-01A-11D-2114-08	15246904	235338686	13911935	9	8284											
SPAST	6683	broad.mit.edu	37	chr2	32312619	32312619	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtattgaagaactggaaaaAggaatagctgttatagttac	16	11	11	3	0	0	2	0	1	0	1	0	4	0	4	0	3	3	4	0	3	10	6			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr2:32312619A>G	ENST00000315285.3	+	2	599	c.474A>G	c.(472-474)aaA>aaG	p.K158K	SPAST_ENST00000345662.1_Silent_p.K158K	NM_014946.3	NP_055761.2	Q9UBP0	SPAST_HUMAN	spastin	158	MIT.|Required for interaction with RTN1.|Required for interaction with microtubules.|Required for midbody localization.|Sufficient for interaction with CHMP1B.				cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization	endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle	alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					AACTGGAAAAAGGAATAGCTG	0.318													4	110					0	0	1	0	0	G	32312619	A	G	32312619	2	3	179	1	0	0	0	0	0	0	0	1	15053	69	3	3		3	SPAST	2	32312619	Silent	SNP	A	TCGA-HC-7744-01A-11D-2114-08		32312619	210886754	10	8285											
GTDC1	79712	broad.mit.edu	37	chr2	144714783	144714783	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgccactccaaagaattcaTgcttagctgttgagatgaca	12	12	8	9	0	1	3	1	2	0	2	2	4	2	3	2	0	3	3	2	0	3	4			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr2:144714783T>A	ENST00000409214.1	-	9	1387	c.1109A>T	c.(1108-1110)cAt>cTt	p.H370L	GTDC1_ENST00000392869.1_Missense_Mutation_p.H370L|GTDC1_ENST00000542155.1_Missense_Mutation_p.H370L|GTDC1_ENST00000241391.5_Intron|AC016910.1_ENST00000422799.1_RNA|GTDC1_ENST00000463875.2_Missense_Mutation_p.H241L|GTDC1_ENST00000392867.3_Intron|GTDC1_ENST00000409298.1_Missense_Mutation_p.H252L|GTDC1_ENST00000344850.4_Missense_Mutation_p.H370L	NM_001006636.3	NP_001006637.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	370					biosynthetic process		transferase activity, transferring glycosyl groups			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		AAAGAATTCATGCTTAGCTGT	0.388													21	40					0	0	1	0	0	A	144714783	T	A	144714783	3	1	179	1	0	0	0	0	1	0	0	0	6892	1464	51	5	283	5	GTDC1	2	144714783	Missense_Mutation	SNP	T	TCGA-HC-7744-01A-11D-2114-08	112402164	144714783	98484590	11	8286											
PIKFYVE	200576	broad.mit.edu	37	chr2	209204774	209204774	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgggatccacagacagccAagtgaaggaaaagtcaacca	16	4	11	10	0	1	2	1	1	0	1	2	4	2	4	3	2	2	1	3	2	5	0			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr2:209204774A>C	ENST00000264380.4	+	31	5008	c.4850A>C	c.(4849-4851)cAa>cCa	p.Q1617P		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1617					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						ACAGACAGCCAAGTGAAGGAA	0.328													59	59					0	0	1	0	0	C	209204774	A	C	209204774	3	2	179	1	0	0	0	0	1	0	0	0	11972	130	5	5	4979	5	PIKFYVE	2	209204774	Missense_Mutation	SNP	A	TCGA-HC-7744-01A-11D-2114-08	64489991	209204774	33994599	12	8287											
XPC	7508	broad.mit.edu	37	chr3	14212034	14212034	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagatggtgtgccttcttgaGgtcacttggaaagtccctgt	7	13	12	9	0	2	2	1	1	1	1	3	3	3	3	2	3	1	0	2	3	1	3			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr3:14212034G>T	ENST00000285021.7	-	3	530	c.316C>A	c.(316-318)Ctc>Atc	p.L106I	XPC_ENST00000449060.2_Missense_Mutation_p.L106I	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	106	Glu-rich (acidic).				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCCTTCTTGAGGTCACTTGGA	0.428			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				6	130					0.000157383	0.00016949	1	1	0	T	14212034	G	T	14212034	3	4	179	1	0	0	0	0	1	0	0	0	17501	1000	35	4	1511	4	XPC	3	14212034	Missense_Mutation	SNP	G	TCGA-HC-7744-01A-11D-2114-08		14212034	183810396	13	8288											
SLC7A14	57709	broad.mit.edu	37	chr3	170218996	170218996	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcagagcactggctccggccGcagtgccaatcaggtactcc	8	7	11	15	2	2	1	2	0	0	1	4	1	4	1	4	3	3	4	4	3	2	1			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr3:170218996G>A	ENST00000231706.4	-	3	758	c.443C>T	c.(442-444)gCg>gTg	p.A148V	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	148						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			GGCTCCGGCCGCAGTGCCAAT	0.557													3	45					0	0	1	0	0	A	170218996	G	A	170218996	3	1	179	1	0	0	0	0	1	0	0	0	14751	1087	38	1	1896	1	SLC7A14	3	170218996	Missense_Mutation	SNP	G	TCGA-HC-7744-01A-11D-2114-08	156006962	170218996	27803434	14	8289											
SEL1L3	23231	broad.mit.edu	37	chr4	25785893	25785893	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctctaaggcaagccgtctgTtcttttttactccttgaccc	6	15	7	13	1	3	1	0	1	3	0	4	1	4	1	3	1	2	3	3	1	3	6			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr4:25785893T>C	ENST00000399878.3	-	14	2359	c.2237A>G	c.(2236-2238)aAc>aGc	p.N746S	SEL1L3_ENST00000502949.1_Missense_Mutation_p.N593S|SEL1L3_ENST00000264868.5_Missense_Mutation_p.N711S	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	746						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						AAGCCGTCTGTTCTTTTTTAC	0.418													8	156					0	0	1	0	0	C	25785893	T	C	25785893	3	2	179	1	0	0	0	0	1	0	0	0	14066	1725	60	3	1205	3	SEL1L3	4	25785893	Missense_Mutation	SNP	T	TCGA-HC-7744-01A-11D-2114-08		25785893	165368383	15	8290											
SLC12A2	6558	broad.mit.edu	37	chr5	127419938	127419955	+	In_Frame_Del	DEL	GCGGCGGCGGCGGCGGCA	GCGGCGGCGGCGGCGGCA	-																															ggcgggccgctgctgcggcgGcggcggcggcggcggcagcg																										TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr5:127419938_127419955delGCGGCGGCGGCGGCGGCA	ENST00000262461.2	+	1	481_498	c.292_309delGCGGCGGCGGCGGCGGCA	c.(292-309)del	p.AAAAAA98del	SLC12A2_ENST00000343225.4_In_Frame_Del_p.AAAAAA98del	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	98	Ala-rich.				potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	TGCTgcggcggcggcggcggcggcggcagcggcggcgg	0.771													8	3	---	---	---	---						-	127419955	GCGGCGGCGGCGGCGGCA	-	127419938	7	5	179	1	0	1	0	1	0	0	0	0	14438	1203	42	0	294	0	SLC12A2	5	127419938	In_Frame_Del	DEL	GCGGCGGCGGCGGCGGCA	TCGA-HC-7744-01A-11D-2114-08		127419938	53495322	16	8291											
FBN2	2201	broad.mit.edu	37	chr5	127800512	127800512	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agggatggccccacgcccgtCcaatggtggcacagcacaga	10	4	13	14	2	0	1	0	0	0	1	1	2	1	2	4	4	1	2	4	4	1	0			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr5:127800512C>A	ENST00000508053.1	-	12	1705	c.731G>T	c.(730-732)gGa>gTa	p.G244V	FBN2_ENST00000262464.4_Missense_Mutation_p.G244V|FBN2_ENST00000508989.1_Missense_Mutation_p.G211V			P35556	FBN2_HUMAN	fibrillin 2	244	TB 1.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CCACGCCCGTCCAATGGTGGC	0.602													46	56					5.78141e-17	6.34822e-17	1	1	0	A	127800512	C	A	127800512	3	1	179	1	0	0	0	0	1	0	0	0	5736	855	30	4	8247	4	FBN2	5	127800512	Missense_Mutation	SNP	C	TCGA-HC-7744-01A-11D-2114-08	380574	127800512	53114748	17	8292											
PSD2	84249	broad.mit.edu	37	chr5	139193322	139193322	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgatgaggaggacacggAcaagttgctgaactcagcca	13	7	13	8	1	1	4	1	4	0	0	1	7	1	7	1	3	3	2	1	3	2	1			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr5:139193322A>C	ENST00000274710.3	+	3	1005	c.800A>C	c.(799-801)gAc>gCc	p.D267A		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	267	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGGACACGGACAAGTTGCTG	0.607													7	14					0	0	1	0	0	C	139193322	A	C	139193322	3	2	179	1	0	0	0	0	1	0	0	0	12696	275	10	5	806	5	PSD2	5	139193322	Missense_Mutation	SNP	A	TCGA-HC-7744-01A-11D-2114-08	11392810	139193322	41721938	18	8293											
GRXCR2	643226	broad.mit.edu	37	chr5	145252483	145252483	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gattttaaatcgtactttccGgggtttgccatcactcttct	7	17	7	10	2	3	0	1	0	2	0	5	1	4	0	2	2	2	2	2	2	3	6			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr5:145252483G>A	ENST00000377976.1	-	1	48	c.49C>T	c.(49-51)Cgg>Tgg	p.R17W		NM_001080516.1	NP_001073985.1	A6NFK2	GRCR2_HUMAN	glutaredoxin, cysteine rich 2	17										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						CGTACTTTCCGGGGTTTGCCA	0.502													46	71					0	0	1	0	0	A	145252483	G	A	145252483	3	1	179	1	0	0	0	0	1	0	0	0	6854	1115	39	1	709	1	GRXCR2	5	145252483	Missense_Mutation	SNP	G	TCGA-HC-7744-01A-11D-2114-08	6059161	145252483	35662777	19	8294											
CDHR2	54825	broad.mit.edu	37	chr5	176011821	176011821	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagctggagatacagcttGtgaacattctctgcaccaag	11	9	9	12	0	1	2	0	1	1	1	2	3	1	2	2	1	5	3	2	1	3	3			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr5:176011821G>T	ENST00000510636.1	+	19	2813	c.2539G>T	c.(2539-2541)Gtg>Ttg	p.V847L	CDHR2_ENST00000506348.1_Missense_Mutation_p.V847L|CDHR2_ENST00000261944.5_Missense_Mutation_p.V847L	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	847	Cadherin 8.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GATACAGCTTGTGAACATTCT	0.612													4	112					0.000602214	0.000636302	1	1	0	T	176011821	G	T	176011821	3	4	179	1	0	0	0	0	1	0	0	0	3141	1377	48	4	2609	4	CDHR2	5	176011821	Missense_Mutation	SNP	G	TCGA-HC-7744-01A-11D-2114-08	30759338	176011821	4903439	20	8295											
BAI3	577	broad.mit.edu	37	chr6	69349086	69349086	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggttgccatgtattatgtacTtggttggagagctgcttaaa	9	15	12	5	0	0	1	0	0	0	1	0	2	0	1	1	3	4	6	1	3	5	7			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr6:69349086T>G	ENST00000370598.1	+	3	1340	c.519T>G	c.(517-519)acT>acG	p.T173T		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	173					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TATTATGTACTTGGTTGGAGA	0.413													3	86					0	0	1	0	0	G	69349086	T	G	69349086	2	3	179	1	0	0	0	0	0	0	0	1	1298	1596	56	5		5	BAI3	6	69349086	Silent	SNP	T	TCGA-HC-7744-01A-11D-2114-08		69349086	101765981	21	8296											
PIK3CG	5294	broad.mit.edu	37	chr7	106508395	106508395	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctactggaaggccacgcaccGgagcccgggccagatccacc	9	3	12	17	3	0	1	0	0	0	1	1	3	1	3	6	4	2	1	6	4	2	1			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr7:106508395G>A	ENST00000359195.3	+	2	699	c.389G>A	c.(388-390)cGg>cAg	p.R130Q	PIK3CG_ENST00000440650.2_Missense_Mutation_p.R130Q|PIK3CG_ENST00000496166.1_Missense_Mutation_p.R130Q	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	130					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GCCACGCACCGGAGCCCGGGC	0.632													3	33					0	0	1	0	0	A	106508395	G	A	106508395	3	1	179	1	0	0	0	0	1	0	0	0	11964	1116	39	1	391	1	PIK3CG	7	106508395	Missense_Mutation	SNP	G	TCGA-HC-7744-01A-11D-2114-08		106508395	52630268	22	8297											
TSTD2	158427	broad.mit.edu	37	chr9	100388075	100388075	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatctgcagacgaaagacTctttgaggtgctcaatgtca	11	12	9	9	1	5	3	3	1	2	2	5	4	5	3	0	1	2	2	0	1	2	2			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr9:100388075T>C	ENST00000341170.4	-	3	752	c.370A>G	c.(370-372)Agt>Ggt	p.S124G	TSTD2_ENST00000375172.2_5'UTR|TSTD2_ENST00000354801.2_5'UTR|TSTD2_ENST00000375165.1_5'UTR	NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like domain containing 2	124										large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						GACGAAAGACTCTTTGAGGTG	0.438													53	69					0	0	1	0	0	C	100388075	T	C	100388075	3	2	179	1	0	0	0	0	1	0	0	0	16737	1551	54	3	1212	3	TSTD2	9	100388075	Missense_Mutation	SNP	T	TCGA-HC-7744-01A-11D-2114-08		100388075	40825356	23	8298											
CDHR1	92211	broad.mit.edu	37	chr10	85961671	85961671	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccactacatcaccgtggtcGccaaggtaacacagcaggac	12	5	9	15	2	1	0	1	0	0	0	2	1	1	1	3	3	3	2	3	3	3	2			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr10:85961671G>A	ENST00000372117.3	+	7	737	c.634G>A	c.(634-636)Gcc>Acc	p.A212T	CDHR1_ENST00000440770.2_5'UTR|CDHR1_ENST00000332904.3_Missense_Mutation_p.A212T	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	212	Cadherin 2.		A -> T.		homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						CACCGTGGTCGCCAAGGTAAC	0.617													6	17					0	0	1	0	0	A	85961671	G	A	85961671	3	1	179	1	0	0	0	0	1	0	0	0	3140	1087	38	1	660	1	CDHR1	10	85961671	Missense_Mutation	SNP	G	TCGA-HC-7744-01A-11D-2114-08		85961671	49573076	24	8299											
EHBP1L1	254102	broad.mit.edu	37	chr11	65349635	65349635	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aacttggtgacctcgaggggGccagggctgctgcaggccag	7	6	17	11	1	0	1	0	1	0	0	1	2	0	1	3	5	3	3	3	5	1	1			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr11:65349635G>T	ENST00000309295.4	+	9	1757	c.1492G>T	c.(1492-1494)Gcc>Tcc	p.A498S		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	498										central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						CCTCGAGGGGGCCAGGGCTGC	0.672													5	17					0.00448238	0.0046484	1	1	0	T	65349635	G	T	65349635	3	4	179	1	0	0	0	0	1	0	0	0	5002	1203	42	4	1526	4	EHBP1L1	11	65349635	Missense_Mutation	SNP	G	TCGA-HC-7744-01A-11D-2114-08		65349635	69656881	25	8300											
FOLH1B	219595	broad.mit.edu	37	chr11	89407165	89407165	+	RNA	DEL	T	T	-																															cttcccaaaccatcaatgacTtttttttttttccccaatct																								rs112016970		TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr11:89407165delT	ENST00000532352.1	+	0	1114							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						CATCAATGACTTTTTTTTTTT	0.303													3	5	---	---	---	---						-	89407165	T	-	89407165	6	5	179	0	1	1	0	1	0	0	0	0	6013	1624	56	0		0	FOLH1B	11	89407165	RNA	DEL	T	TCGA-HC-7744-01A-11D-2114-08	24057530	89407165	45599351	26	8301											
BHLHE41	79365	broad.mit.edu	37	chr12	26277809	26277809	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccttggggggatctgtgcGtctccagtctctctctcgct	3	13	12	13	2	4	0	0	0	4	0	8	2	4	1	2	3	1	1	2	3	0	1			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr12:26277809G>A	ENST00000242728.4	-	0	251					NM_030762.2	NP_110389.1	Q9C0J9	BHE41_HUMAN	basic helix-loop-helix family, member e41						cell differentiation|cell proliferation|organ morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)	5						GGATCTGTGCGTCTCCAGTCT	0.552													3	16					0	0	1	0	0	A	26277809	G	A	26277809	1	1	179	1	0	0	0	0	0	0	0	0	1423	1160	40	1		1	BHLHE41	12	26277809	Translation_Start_Site	SNP	G	TCGA-HC-7744-01A-11D-2114-08		26277809	107574086	27	8302											
DBX2	440097	broad.mit.edu	37	chr12	45444478	45444478	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctttaggggaactgggctaGcaggcaggggccggagctgc	7	6	19	9	1	0	0	0	0	0	0	0	2	0	2	1	7	4	5	1	7	3	3			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr12:45444478G>A	ENST00000332700.6	-	1	404	c.233C>T	c.(232-234)gCt>gTt	p.A78V		NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	78						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		AACTGGGCTAGCAGGCAGGGG	0.746													2	2					0	0	1	0	0	A	45444478	G	A	45444478	3	1	179	1	0	0	0	0	1	0	0	0	4284	971	34	2	802	2	DBX2	12	45444478	Missense_Mutation	SNP	G	TCGA-HC-7744-01A-11D-2114-08	19166669	45444478	88407417	28	8303											
ACVR1B	91	broad.mit.edu	37	chr12	52379005	52379005	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaattgctcatcgagacttaAagtcaaagaacattctggtg	14	11	9	7	1	3	2	2	0	1	2	4	4	3	2	0	1	2	1	0	1	5	3			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr12:52379005A>G	ENST00000257963.4	+	6	1086	c.1009A>G	c.(1009-1011)Aag>Gag	p.K337E	ACVR1B_ENST00000541224.1_Missense_Mutation_p.K378E|ACVR1B_ENST00000426655.2_Missense_Mutation_p.K337E|ACVR1B_ENST00000563121.1_3'UTR|ACVR1B_ENST00000542485.1_Missense_Mutation_p.K285E|ACVR1B_ENST00000415850.2_Missense_Mutation_p.K337E	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	337	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)	TCGAGACTTAAAGTCAAAGAA	0.438													18	29					0	0	1	0	0	G	52379005	A	G	52379005	3	3	179	1	0	0	0	0	1	0	0	0	220	15	1	3	1158	3	ACVR1B	12	52379005	Missense_Mutation	SNP	A	TCGA-HC-7744-01A-11D-2114-08	6934527	52379005	81472890	29	8304											
CCT2	10576	broad.mit.edu	37	chr12	69986785	69986785	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcccgggtaagagttgactcTacagcaaaggttgcagaaat	13	9	11	8	1	1	3	0	1	1	2	2	3	2	3	1	2	3	5	1	2	4	4	rs148371443	by1000genomes	TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr12:69986785T>C	ENST00000543146.2	+	9	1121	c.639T>C	c.(637-639)tcT>tcC	p.S213S	CCT2_ENST00000544368.2_Silent_p.S260S|CCT2_ENST00000299300.6_Silent_p.S260S	NM_001198842.1	NP_001185771.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	260					'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GAGTTGACTCTACAGCAAAGG	0.363													19	31					0	0	1	0	0	C	69986785	T	C	69986785	2	2	179	1	0	0	0	0	0	0	0	1	2975	1509	53	3		3	CCT2	12	69986785	Silent	SNP	T	TCGA-HC-7744-01A-11D-2114-08	17607780	69986785	63865110	30	8305											
MAPKAPK5	8550	broad.mit.edu	37	chr12	112326400	112326400	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actcagtgaacaaccccattCtgcggaagaggaagttactt	13	9	9	10	1	2	2	1	1	1	1	2	4	2	4	2	2	4	1	2	2	5	3			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr12:112326400C>G	ENST00000550735.2	+	11	1834	c.1078C>G	c.(1078-1080)Ctg>Gtg	p.L360V	MAPKAPK5_ENST00000551404.2_Missense_Mutation_p.L360V	NM_003668.2|NM_139078.1	NP_003659.2|NP_620777.1	Q8IW41	MAPK5_HUMAN	mitogen-activated protein kinase-activated protein kinase 5	360					signal transduction	cytoplasm|nucleus	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity			endometrium(1)|lung(11)|ovary(1)	13						CAACCCCATTCTGCGGAAGAG	0.463													45	64					0	0	1	0	0	G	112326400	C	G	112326400	3	3	179	1	0	0	0	0	1	0	0	0	9341	912	32	4	1120	4	MAPKAPK5	12	112326400	Missense_Mutation	SNP	C	TCGA-HC-7744-01A-11D-2114-08	42339615	112326400	21525495	31	8306											
AHNAK2	113146	broad.mit.edu	37	chr14	105419663	105419663	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcatggagaggaggctcaCgtcggcctccaccttcggcg	6	7	14	14	4	1	1	1	0	0	1	4	3	2	2	3	5	1	2	3	5	0	1			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr14:105419663C>T	ENST00000333244.5	-	7	2244	c.2125G>A	c.(2125-2127)Gtg>Atg	p.V709M	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	709						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AGGAGGCTCACGTCGGCCTCC	0.612													5	182					0	0	1	0	0	T	105419663	C	T	105419663	3	4	179	1	0	0	0	0	1	0	0	0	412	536	19	1	15266	1	AHNAK2	14	105419663	Missense_Mutation	SNP	C	TCGA-HC-7744-01A-11D-2114-08		105419663	1929877	32	8307											
SPG11	80208	broad.mit.edu	37	chr15	44865858	44865858	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggcctgggctcgtttgcatCggtcaggctgctgagaggcc	5	9	16	11	2	1	1	1	1	0	1	3	2	1	1	2	5	2	5	2	5	0	1			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr15:44865858C>T	ENST00000261866.7	-	32	6108	c.6092G>A	c.(6091-6093)cGa>cAa	p.R2031Q	SPG11_ENST00000535302.2_Intron|SPG11_ENST00000427534.2_Missense_Mutation_p.R2031Q|SPG11_ENST00000558319.1_Missense_Mutation_p.R2031Q	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	2031					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TCGTTTGCATCGGTCAGGCTG	0.547													9	42					0	0	1	0	0	T	44865858	C	T	44865858	3	4	179	1	0	0	0	0	1	0	0	0	15097	884	31	1	1275	1	SPG11	15	44865858	Missense_Mutation	SNP	C	TCGA-HC-7744-01A-11D-2114-08		44865858	57665534	33	8308											
CNOT1	23019	broad.mit.edu	37	chr16	58559108	58559109	+	Frame_Shift_Ins	INS	-	-	T																															tgtccaagtccacagccaaaINSttctggaagatatccatgtg																										TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr16:58559108_58559109insT	ENST00000317147.5	-	46	7090_7091	c.6758_6759insA	c.(6757-6759)attfs	p.I2253fs	CNOT1_ENST00000569240.1_Frame_Shift_Ins_p.I2248fs|CNOT1_ENST00000245138.4_Frame_Shift_Ins_p.I1104fs	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	2253					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CCACAGCCAAATTCTGGAAGAT	0.47													9	243	---	---	---	---						T	58559109	-	T	58559108	7	5	179	1	0	1	1	0	0	0	0	0	3640	98	4	0	387	0	CNOT1	16	58559108	Frame_Shift_Ins	INS	-	TCGA-HC-7744-01A-11D-2114-08		58559108	31795645	34	8309											
FANCA	2175	broad.mit.edu	37	chr16	89831297	89831297	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagaaggaacggtcacctaCgtgaacatcttcctctttca	11	10	9	11	2	4	2	2	1	2	1	5	4	5	3	2	3	3	0	2	3	4	3	rs140180549		TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr16:89831297C>T	ENST00000389301.3	-	28	2809		c.e28+1		FANCA_ENST00000568369.1_Splice_Site	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A						DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		CGGTCACCTACGTGAACATCT	0.552			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				3	64					0	0	1	0	0	T	89831297	C	T	89831297	5	4	179	1	0	0	0	0	0	0	1	0	5695	550	19	1	1652	1	FANCA	16	89831297	Splice_Site	SNP	C	TCGA-HC-7744-01A-11D-2114-08	31272189	89831297	523456	35	8310											
ALOX15	246	broad.mit.edu	37	chr17	4541945	4541945	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atccttccagcaagtcagaaCatttagagagtctttgatag	13	12	8	8	0	2	3	1	1	1	2	4	4	4	3	2	0	2	1	2	0	4	5			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr17:4541945C>A	ENST00000570836.1	-	6	673	c.577G>T	c.(577-579)Gtt>Ttt	p.V193F	ALOX15_ENST00000545513.1_Missense_Mutation_p.V215F|ALOX15_ENST00000574640.1_Missense_Mutation_p.V154F|ALOX15_ENST00000293761.3_Missense_Mutation_p.V193F			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	193	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	CAAGTCAGAACATTTAGAGAG	0.532													3	65					0.00909568	0.00926106	1	1	0	A	4541945	C	A	4541945	3	1	179	1	0	0	0	0	1	0	0	0	534	478	17	4	1451	4	ALOX15	17	4541945	Missense_Mutation	SNP	C	TCGA-HC-7744-01A-11D-2114-08		4541945	76653265	36	8311											
NCOR1	9611	broad.mit.edu	37	chr17	15968316	15968317	+	Frame_Shift_Ins	INS	-	-	G																															aaaattgttggaggcatattINSggtcaggtcaatgattccta																										TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr17:15968316_15968317insG	ENST00000268712.3	-	34	5225_5226	c.4968_4969insC	c.(4966-4971)acatatfs	p.Y1657fs	NCOR1_ENST00000395851.1_Frame_Shift_Ins_p.Y1673fs|NCOR1_ENST00000395857.3_Frame_Shift_Ins_p.Y241fs	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1657	Interaction with C1D (By similarity).|Interaction with ETO.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GGAGGCATATTGGTCAGGTCAA	0.396													80	169	---	---	---	---						G	15968317	-	G	15968316	7	5	179	1	0	1	1	0	0	0	0	0	10282	1812	63	0	2405	0	NCOR1	17	15968316	Frame_Shift_Ins	INS	-	TCGA-HC-7744-01A-11D-2114-08	11426371	15968316	65226894	37	8312											
KRTAP4-1	85285	broad.mit.edu	37	chr17	39340671	39340671	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtccaatatgaggttcaacAagaggatccacagcagctgg	14	7	11	9	0	1	2	1	1	0	1	3	3	3	3	2	3	3	3	2	3	4	2			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr17:39340671A>G	ENST00000398472.1	-	1	923	c.436T>C	c.(436-438)Tgt>Cgt	p.C146R				Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1	146						keratin filament				kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GAGGTTCAACAAGAGGATCCA	0.527													5	226					0	0	1	0	0	G	39340671	A	G	39340671	3	3	179	1	0	0	0	0	1	0	0	0	8592	130	5	3	8	3	KRTAP4-1	17	39340671	Missense_Mutation	SNP	A	TCGA-HC-7744-01A-11D-2114-08	23372355	39340671	41854539	38	8313											
ENPP7	339221	broad.mit.edu	37	chr17	77705082	77705082	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggacgccatggcccgagacGgggtgaaggcacgctacatg	9	5	16	11	4	0	2	0	1	0	1	0	4	0	3	2	5	1	2	2	5	2	1			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr17:77705082G>A	ENST00000328313.5	+	1	402	c.181G>A	c.(181-183)Ggg>Agg	p.G61R		NM_178543.3	NP_848638.2	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 7	61					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGCCCGAGACGGGGTGAAGGC	0.647													3	39					0	0	1	0	0	A	77705082	G	A	77705082	3	1	179	1	0	0	0	0	1	0	0	0	5163	1116	39	1	183	1	ENPP7	17	77705082	Missense_Mutation	SNP	G	TCGA-HC-7744-01A-11D-2114-08	38364411	77705082	3490128	39	8314											
MUC16	94025	broad.mit.edu	37	chr19	9090433	9090433	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcttgctgtcaagagttgtaAaacctagagtggggaccaag	12	10	12	7	0	2	2	1	0	1	2	2	3	2	3	2	2	2	3	2	2	5	4			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr19:9090433A>T	ENST00000397910.4	-	1	1585	c.1382T>A	c.(1381-1383)tTt>tAt	p.F461Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	461	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAGAGTTGTAAAACCTAGAGT	0.498													6	181					0	0	1	0	0	T	9090433	A	T	9090433	3	4	179	1	0	0	0	0	1	0	0	0	10021	14	1	5	42477	5	MUC16	19	9090433	Missense_Mutation	SNP	A	TCGA-HC-7744-01A-11D-2114-08		9090433	50038550	40	8315											
ZNF709	163051	broad.mit.edu	37	chr19	12575993	12575993	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tacattcatagggtttctctCcagagtgagttctttcatga	9	16	8	8	0	4	3	2	2	2	1	6	3	5	3	1	1	1	2	1	1	2	6			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr19:12575993C>T	ENST00000397732.3	-	4	914	c.743G>A	c.(742-744)gGa>gAa	p.G248E	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.G248E	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	248					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						GGGTTTCTCTCCAGAGTGAGT	0.388													4	53					0	0	1	0	0	T	12575993	C	T	12575993	3	4	179	1	0	0	0	0	1	0	0	0	18169	855	30	2	1186	2	ZNF709	19	12575993	Missense_Mutation	SNP	C	TCGA-HC-7744-01A-11D-2114-08	3485560	12575993	46552990	41	8316											
KRTAP13-4	284827	broad.mit.edu	37	chr21	31802730	31802730	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacctgccagctgcgttcctCtctctacagggactgtcaga	7	10	9	15	1	3	1	1	0	2	1	5	2	4	2	3	1	4	2	3	1	1	2			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr21:31802730C>T	ENST00000334068.2	+	1	159	c.137C>T	c.(136-138)tCt>tTt	p.S46F		NM_181600.1	NP_853631.1	Q3LI77	KR134_HUMAN	keratin associated protein 13-4	46	4 X 10 AA approximate repeats.					intermediate filament				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	15						CTGCGTTCCTCTCTCTACAGG	0.632													40	47					0	0	1	0	0	T	31802730	C	T	31802730	3	4	179	1	0	0	0	0	1	0	0	0	8568	913	32	2	139	2	KRTAP13-4	21	31802730	Missense_Mutation	SNP	C	TCGA-HC-7744-01A-11D-2114-08		31802730	16327165	42	8317											
BRWD1	54014	broad.mit.edu	37	chr21	40668227	40668227	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accataattcactggcatttCaggaggtcttcctctatgaa	11	13	7	10	0	4	1	2	1	2	0	5	2	5	2	2	3	0	1	2	3	3	5			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr21:40668227C>T	ENST00000342449.3	-	6	490	c.412G>A	c.(412-414)Gaa>Aaa	p.E138K	BRWD1_ENST00000380800.3_Missense_Mutation_p.E138K|BRWD1_ENST00000333229.2_Missense_Mutation_p.E138K	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ACTGGCATTTCAGGAGGTCTT	0.378													54	31					0	0	1	0	0	T	40668227	C	T	40668227	3	4	179	1	0	0	0	0	1	0	0	0	1527	835	29	2	6937	2	BRWD1	21	40668227	Missense_Mutation	SNP	C	TCGA-HC-7744-01A-11D-2114-08	8865497	40668227	7461668	43	8318											
RIMBP3	85376	broad.mit.edu	37	chr22	20457106	20457106	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggggctcaggctccctcCtctcctctcgcctctctgtg	1	13	10	17	1	4	0	1	0	3	0	9	0	6	0	4	3	0	2	4	3	0	0			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr22:20457106C>T	ENST00000426804.1	-	1	4680	c.4196G>A	c.(4195-4197)aGg>aAg	p.R1399K		NM_015672.1	NP_056487.1			RIMS binding protein 3											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			AGGCTCCCTCCTCTCCTCTCG	0.607													13	78					0	0	1	0	0	T	20457106	C	T	20457106	3	4	179	1	0	0	0	0	1	0	0	0	13414	681	24	2	727	2	RIMBP3	22	20457106	Missense_Mutation	SNP	C	TCGA-HC-7744-01A-11D-2114-08		20457106	30847460	44	8319											
CERK	64781	broad.mit.edu	37	chr22	47095356	47095356	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggacacatccatggccagcGagtcccctgtgggagagaac	11	5	13	12	1	0	1	0	0	0	1	2	5	2	3	4	3	2	0	4	3	1	0			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chr22:47095356G>A	ENST00000216264.8	-	8	909	c.797C>T	c.(796-798)tCg>tTg	p.S266L	CERK_ENST00000541677.1_Missense_Mutation_p.S68L	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase	266	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process	integral to membrane of membrane fraction|membrane|nucleus	ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CATGGCCAGCGAGTCCCCTGT	0.617													46	98					0	0	1	0	0	A	47095356	G	A	47095356	3	1	179	1	0	0	0	0	1	0	0	0	3289	1059	37	1	840	1	CERK	22	47095356	Missense_Mutation	SNP	G	TCGA-HC-7744-01A-11D-2114-08	26638250	47095356	4209210	45	8320											
PCDH11X	27328	broad.mit.edu	37	chrX	91132876	91132876	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aattctggcaaaagataacgGggtaccacccttaaccagca	15	7	8	11	1	1	1	0	0	1	1	1	1	1	1	3	3	4	3	3	3	6	4			TCGA-HC-7744-01A-11D-2114-08	TCGA-HC-7744-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0192d529-7340-45d8-a5f0-249cbb11ca19	12e7e0e3-0619-4659-ac66-f999415ad396	g.chrX:91132876G>T	ENST00000373094.1	+	2	2482	c.1637G>T	c.(1636-1638)gGg>gTg	p.G546V	PCDH11X_ENST00000504220.1_Missense_Mutation_p.G546V|PCDH11X_ENST00000395337.2_Missense_Mutation_p.G546V|PCDH11X_ENST00000373097.1_Missense_Mutation_p.G546V|PCDH11X_ENST00000298274.8_Missense_Mutation_p.G546V|PCDH11X_ENST00000373088.1_Missense_Mutation_p.G546V|PCDH11X_ENST00000361655.2_Missense_Mutation_p.G546V|PCDH11X_ENST00000361724.1_Missense_Mutation_p.G546V|PCDH11X_ENST00000406881.1_Missense_Mutation_p.G546V	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	546	Cadherin 5.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						AAAGATAACGGGGTACCACCC	0.383													62	12					7.91278e-47	8.86231e-47	1	1	0	T	91132876	G	T	91132876	3	4	179	1	0	0	0	0	1	0	0	0	11555	1232	43	4	1643	4	PCDH11X	23	91132876	Missense_Mutation	SNP	G	TCGA-HC-7744-01A-11D-2114-08		91132876	64137684	46	8321											
PTPRF	5792	broad.mit.edu	37	chr1	44071948	44071948	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaaggcggagaggagcagcGgcggcggcggcggcaggcag	8	0	23	10	6	0	1	0	0	0	1	0	3	0	2	0	9	2	4	0	9	1	0			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	3cae220e-d1a9-454a-82c3-f381e1b08a26	g.chr1:44071948G>A	ENST00000359947.4	+	20	3861	c.3521G>A	c.(3520-3522)cGg>cAg	p.R1174Q	PTPRF_ENST00000372413.3_Missense_Mutation_p.R1165Q|PTPRF_ENST00000372414.3_Missense_Mutation_p.R1174Q|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000438120.1_Missense_Mutation_p.R1165Q|PTPRF_ENST00000422171.2_Missense_Mutation_p.R522Q	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1174					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GAGGAGCAGCGGCGGCGGCGG	0.632													4	92					0	0	1	0	0	A	44071948	G	A	44071948	3	1	180	1	0	0	0	0	1	0	0	0	12853	1116	39	1	3591	1	PTPRF	1	44071948	Missense_Mutation	SNP	G	TCGA-HC-7745-01A-11D-2114-08		44071948	205178673	1	8322											
PHTF1	10745	broad.mit.edu	37	chr1	114256026	114256026	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtcattgtcagtttcagTccctttgttagatattaatt	8	19	8	6	0	3	1	3	0	0	1	4	1	4	1	1	1	0	2	1	1	3	7			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr1:114256026T>C	ENST00000369604.1	-	8	1141	c.658A>G	c.(658-660)Act>Gct	p.T220A	PHTF1_ENST00000474926.1_5'UTR|PHTF1_ENST00000369596.2_Missense_Mutation_p.T167A|PHTF1_ENST00000369600.1_Missense_Mutation_p.T167A|PHTF1_ENST00000369598.1_Missense_Mutation_p.T175A|PHTF1_ENST00000357783.2_Missense_Mutation_p.T220A|PHTF1_ENST00000393357.2_Missense_Mutation_p.T220A|PHTF1_ENST00000447664.2_Intron			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	220						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCAGTTTCAGTCCCTTTGTTA	0.318													3	24					0	0	1	0	0	C	114256026	T	C	114256026	3	2	180	1	0	0	0	0	1	0	0	0	11910	1667	58	3	1678	3	PHTF1	1	114256026	Missense_Mutation	SNP	T	TCGA-HC-7745-01A-11D-2114-08	70184078	114256026	134994595	2	8323											
FLG	2312	broad.mit.edu	37	chr1	152282808	152282808	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggtgtggtgtggctgtgAtggtaccctgagtgtccaga	5	12	18	6	0	0	3	0	2	0	1	1	3	1	3	2	5	1	2	2	5	1	1			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr1:152282808A>G	ENST00000368799.1	-	3	4589	c.4554T>C	c.(4552-4554)caT>caC	p.H1518H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1518	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTGGCTGTGATGGTACCCTG	0.562									Ichthyosis				62	383					0	0	1	0	0	G	152282808	A	G	152282808	2	3	180	1	0	0	0	0	0	0	0	1	5955	330	12	3		3	FLG	1	152282808	Silent	SNP	A	TCGA-HC-7745-01A-11D-2114-08	38026782	152282808	96967813	3	8324											
OR10J1	26476	broad.mit.edu	37	chr1	159410187	159410187	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctgactttgattatcagTgtgctggtgcttgttgtacc	6	17	10	8	0	1	2	1	2	0	0	2	2	2	2	2	1	3	4	2	1	2	5			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr1:159410187T>G	ENST00000423932.3	+	1	676	c.639T>G	c.(637-639)agT>agG	p.S213R	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	213					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					TGATTATCAGTGTGCTGGTGC	0.458													20	106					0	0	1	0	0	G	159410187	T	G	159410187	3	3	180	1	0	0	0	0	1	0	0	0	10958	1693	59	5	641	5	OR10J1	1	159410187	Missense_Mutation	SNP	T	TCGA-HC-7745-01A-11D-2114-08	7127379	159410187	89840434	4	8325											
EXOC8	149371	broad.mit.edu	37	chr1	231471575	231471575	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctccaaaagtaccatgtgCagctctgggaaatacagctt	12	10	8	11	0	2	0	0	0	2	0	3	1	2	1	2	1	5	4	2	1	5	3			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr1:231471575C>T	ENST00000366645.1	-	1	2023	c.1905G>A	c.(1903-1905)ctG>ctA	p.L635L	EXOC8_ENST00000360394.2_Silent_p.L639L			Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	639					exocytosis|protein transport	growth cone|nucleus	protein binding			cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				GTACCATGTGCAGCTCTGGGA	0.478													13	77					0	0	1	0	0	T	231471575	C	T	231471575	2	4	180	1	0	0	0	0	0	0	0	1	5338	697	25	2		2	EXOC8	1	231471575	Silent	SNP	C	TCGA-HC-7745-01A-11D-2114-08	72061388	231471575	17779046	5	8326											
HEATR1	55127	broad.mit.edu	37	chr1	236749185	236749185	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacaactcaatcatcttctGatttgctacaccgattagtt	12	14	4	11	1	4	1	2	1	2	0	4	2	4	1	1	0	4	2	1	0	5	5			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr1:236749185G>T	ENST00000366582.3	-	16	2098	c.1984C>A	c.(1984-1986)Cag>Aag	p.Q662K	HEATR1_ENST00000366581.2_Missense_Mutation_p.Q662K	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	662					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			ATCATCTTCTGATTTGCTACA	0.363													3	43					1	1	1	1	0	T	236749185	G	T	236749185	3	4	180	1	0	0	0	0	1	0	0	0	7068	1299	45	4	4570	4	HEATR1	1	236749185	Missense_Mutation	SNP	G	TCGA-HC-7745-01A-11D-2114-08	5277610	236749185	12501436	6	8327											
MYO7B	4648	broad.mit.edu	37	chr2	128351136	128351136	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagctgcaaggcaagctcCgccagatgaccctgggcatc	9	5	13	14	1	0	2	0	1	0	1	2	2	1	2	3	3	3	6	3	3	2	0			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr2:128351136C>T	ENST00000389524.4	+	18	2214	c.2161C>T	c.(2161-2163)Cgc>Tgc	p.R721C	MYO7B_ENST00000409816.2_Missense_Mutation_p.R721C|MYO7B_ENST00000428314.1_Missense_Mutation_p.R721C			Q6PIF6	MYO7B_HUMAN	myosin VIIB	721	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		AGGCAAGCTCCGCCAGATGAC	0.612													3	115					0	0	1	0	0	T	128351136	C	T	128351136	3	4	180	1	0	0	0	0	1	0	0	0	10131	652	23	1	2227	1	MYO7B	2	128351136	Missense_Mutation	SNP	C	TCGA-HC-7745-01A-11D-2114-08		128351136	114848237	7	8328											
CSRNP3	80034	broad.mit.edu	37	chr2	166514412	166514412	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccctggggatgtccagccGccataacagcgtgcgccagt	8	6	12	15	3	0	0	0	0	0	0	1	1	1	1	5	2	4	0	5	2	1	1			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr2:166514412G>A	ENST00000314499.7	+	5	666	c.290G>A	c.(289-291)cGc>cAc	p.R97H	CSRNP3_ENST00000409420.1_Missense_Mutation_p.R129H|CSRNP3_ENST00000342316.4_Missense_Mutation_p.R97H	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	97					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.R97H(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						ATGTCCAGCCGCCATAACAGC	0.547													3	46					0	0	1	0	0	A	166514412	G	A	166514412	3	1	180	1	0	0	0	0	1	0	0	0	3990	1087	38	1	296	1	CSRNP3	2	166514412	Missense_Mutation	SNP	G	TCGA-HC-7745-01A-11D-2114-08	38163276	166514412	76684961	8	8329											
QRICH1	54870	broad.mit.edu	37	chr3	49094329	49094329	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagttgctgctgctgctgcTgtggtggtggtgtctgttcc	1	15	17	8	0	1	0	0	0	1	0	2	1	2	1	1	4	5	7	1	4	0	2			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr3:49094329T>G	ENST00000395443.2	-	3	1776	c.1304A>C	c.(1303-1305)cAg>cCg	p.Q435P	QRICH1_ENST00000424300.1_Missense_Mutation_p.Q435P|QRICH1_ENST00000357496.2_Missense_Mutation_p.Q435P|QRICH1_ENST00000479449.1_5'UTR	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	435	Gln-rich.									breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		ctgctgctgctgtggtggtgg	0.562													3	66					0	0	1	0	0	G	49094329	T	G	49094329	3	3	180	1	0	0	0	0	1	0	0	0	12931	1580	55	5	1058	5	QRICH1	3	49094329	Missense_Mutation	SNP	T	TCGA-HC-7745-01A-11D-2114-08		49094329	148928101	9	8330											
SLC25A26	115286	broad.mit.edu	37	chr3	66428192	66428192	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgggggcttatgaccgaacGcacagcttgctgttggaagt	8	10	14	9	2	0	1	0	1	0	0	0	3	0	2	1	3	3	5	1	3	3	3	rs147162139		TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr3:66428192G>A	ENST00000354883.6	+	11	1514	c.786G>A	c.(784-786)acG>acA	p.T262T	SLC25A26_ENST00000336733.5_Silent_p.T174T|SLC25A26_ENST00000536651.1_3'UTR			Q70HW3	SAMC_HUMAN	solute carrier family 25 (S-adenosylmethionine carrier), member 26	262						integral to membrane|mitochondrial inner membrane|nucleus	S-adenosylmethionine transmembrane transporter activity			endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)|stomach(2)|urinary_tract(1)	8		Lung NSC(201;0.00774)		BRCA - Breast invasive adenocarcinoma(55;0.00046)|KIRC - Kidney renal clear cell carcinoma(15;0.0515)|Kidney(15;0.0648)		ATGACCGAACGCACAGCTTGC	0.502													4	198					0	0	1	0	0	A	66428192	G	A	66428192	2	1	180	1	0	0	0	0	0	0	0	1	14544	1074	38	1		1	SLC25A26	3	66428192	Silent	SNP	G	TCGA-HC-7745-01A-11D-2114-08	17333863	66428192	131594238	10	8331											
WDR49	151790	broad.mit.edu	37	chr3	167277926	167277926	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggccatagtgctgatttctgCgttgccgtggcaaccagtaa	8	11	12	10	2	1	1	0	1	1	0	1	1	1	1	3	2	4	4	3	2	3	4			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr3:167277926C>T	ENST00000308378.3	-	5	882	c.577G>A	c.(577-579)Gca>Aca	p.A193T	WDR49_ENST00000479765.1_Intron|WDR49_ENST00000476376.1_Missense_Mutation_p.A18T|WDR49_ENST00000453925.2_Missense_Mutation_p.A246T	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	193										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						CTGATTTCTGCGTTGCCGTGG	0.453													18	96					0	0	1	0	0	T	167277926	C	T	167277926	3	4	180	1	0	0	0	0	1	0	0	0	17362	768	27	1	1560	1	WDR49	3	167277926	Missense_Mutation	SNP	C	TCGA-HC-7745-01A-11D-2114-08	100849734	167277926	30744504	11	8332											
EHHADH	1962	broad.mit.edu	37	chr3	184936017	184936017	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttgagtgcttcatctgctaAaatacgtcttcctgaaataa	12	14	6	9	1	3	2	1	2	2	0	4	2	4	2	1	0	3	2	1	0	5	6			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr3:184936017A>C	ENST00000231887.3	-	5	550	c.475T>G	c.(475-477)Tta>Gta	p.L159V	EHHADH_ENST00000475987.1_5'UTR|EHHADH_ENST00000456310.1_Missense_Mutation_p.L63V	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	159	Enoyl-CoA hydratase / isomerase.					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	TCATCTGCTAAAATACGTCTT	0.378													29	104					0	0	1	0	0	C	184936017	A	C	184936017	3	2	180	1	0	0	0	0	1	0	0	0	5008	11	1	5	1708	5	EHHADH	3	184936017	Missense_Mutation	SNP	A	TCGA-HC-7745-01A-11D-2114-08	17658091	184936017	13086413	12	8333											
LRRC66	339977	broad.mit.edu	37	chr4	52883592	52883592	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgaaacttacatccacagtgGctgctgtctgtgatatgtcc	9	13	9	10	0	1	2	0	2	1	0	3	2	3	2	2	1	3	2	2	1	3	2			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr4:52883592G>A	ENST00000343457.3	-	1	194	c.188C>T	c.(187-189)gCc>gTc	p.A63V		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	63						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						ATCCACAGTGGCTGCTGTCTG	0.353													5	42					0	0	1	0	0	A	52883592	G	A	52883592	3	1	180	1	0	0	0	0	1	0	0	0	9063	1203	42	2	2470	2	LRRC66	4	52883592	Missense_Mutation	SNP	G	TCGA-HC-7745-01A-11D-2114-08		52883592	138270684	13	8334											
FGF5	2250	broad.mit.edu	37	chr4	81207627	81207627	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagccaaacgagggtgcaGcccccgggttaaaccccagc	13	3	11	14	2	0	0	0	0	0	0	0	1	0	0	5	2	6	2	5	2	5	1			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr4:81207627G>A	ENST00000312465.7	+	3	834	c.608G>A	c.(607-609)aGc>aAc	p.S203N	FGF5_ENST00000456523.3_3'UTR|FGF5_ENST00000503413.1_3'UTR	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	203					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						CGAGGGTGCAGCCCCCGGGTT	0.473													3	91					0	0	1	0	0	A	81207627	G	A	81207627	3	1	180	1	0	0	0	0	1	0	0	0	5888	971	34	2	618	2	FGF5	4	81207627	Missense_Mutation	SNP	G	TCGA-HC-7745-01A-11D-2114-08	28324035	81207627	109946649	14	8335											
PRKG2	5593	broad.mit.edu	37	chr4	82064095	82064095	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacagcttccagttagacatGgaccgcctgtacaagagaag	13	7	11	10	1	0	2	0	0	0	2	1	5	1	3	3	1	2	3	3	1	4	3			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr4:82064095G>A	ENST00000395578.1	-	11	1376	c.1260C>T	c.(1258-1260)tcC>tcT	p.S420S	PRKG2_ENST00000545647.1_5'UTR|PRKG2_ENST00000264399.1_Silent_p.S420S|PRKG2_ENST00000418486.2_Silent_p.S420S|PRKG2_ENST00000509169.1_5'UTR			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	420					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						AGTTAGACATGGACCGCCTGT	0.438													13	69					0	0	1	0	0	A	82064095	G	A	82064095	2	1	180	1	0	0	0	0	0	0	0	1	12575	1335	47	2		2	PRKG2	4	82064095	Silent	SNP	G	TCGA-HC-7745-01A-11D-2114-08	856468	82064095	109090181	15	8336											
CLGN	1047	broad.mit.edu	37	chr4	141317054	141317054	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatgggaggtttccactcAccacacccaatccgacatgc	11	8	7	15	1	2	0	2	0	0	0	4	2	4	1	4	2	1	1	4	2	1	1	rs145850842	by1000genomes	TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr4:141317054A>G	ENST00000325617.5	-	10	1508	c.1068T>C	c.(1066-1068)ggT>ggC	p.G356G	CLGN_ENST00000414773.1_Silent_p.G356G|CLGN_ENST00000537281.1_Silent_p.G356G	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	356					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					GTTTCCACTCACCACACCCAA	0.433													3	63					0	0	1	0	0	G	141317054	A	G	141317054	2	3	180	1	0	0	0	0	0	0	0	1	3547	146	6	3		3	CLGN	4	141317054	Silent	SNP	A	TCGA-HC-7745-01A-11D-2114-08	59252959	141317054	49837222	16	8337											
ABCE1	6059	broad.mit.edu	37	chr4	146032204	146032204	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgctgtcgtttgcatacAgaaagctgatatgtaggtta	10	15	11	5	1	0	2	0	1	0	1	1	2	0	2	0	1	4	6	0	1	5	6			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr4:146032204A>C	ENST00000296577.4	+	8	1213	c.698A>C	c.(697-699)cAg>cCg	p.Q233P	OTUD4_ENST00000455611.2_5'UTR|ABCE1_ENST00000502803.1_Intron	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	233	ABC transporter 1.				interspecies interaction between organisms|response to virus|RNA catabolic process	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					GTTTGCATACAGAAAGCTGAT	0.363													6	69					0	0	1	0	0	C	146032204	A	C	146032204	3	2	180	1	0	0	0	0	1	0	0	0	64	188	7	5	724	5	ABCE1	4	146032204	Missense_Mutation	SNP	A	TCGA-HC-7745-01A-11D-2114-08	4715150	146032204	45122072	17	8338											
NNT	23530	broad.mit.edu	37	chr5	43700278	43700278	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcttaatgtgctgctggcTgaggctggtgtgccatatga	7	12	14	8	0	0	2	0	2	0	0	0	2	0	2	1	3	4	5	1	3	2	2			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr5:43700278T>G	ENST00000264663.5	+	20	3155	c.2934T>G	c.(2932-2934)gcT>gcG	p.A978A	NNT_ENST00000512996.2_Silent_p.A847A|NNT_ENST00000344920.4_Silent_p.A978A	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	978					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	TGCTGCTGGCTGAGGCTGGTG	0.453													26	85					0	0	1	0	0	G	43700278	T	G	43700278	2	3	180	1	0	0	0	0	0	0	0	1	10557	1567	55	5		5	NNT	5	43700278	Silent	SNP	T	TCGA-HC-7745-01A-11D-2114-08		43700278	137214982	18	8339											
ANKRD32	84250	broad.mit.edu	37	chr5	94022425	94022425	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actctctcttcagaaaatggTaagtacctctctattctggt	10	15	6	10	0	5	1	1	0	4	1	7	1	5	1	1	2	1	2	1	2	5	5			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr5:94022425T>G	ENST00000265140.5	+	16	2540		c.e16+2			NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32											NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		CAGAAAATGGTAAGTACCTCT	0.363													14	67					0	0	1	0	0	G	94022425	T	G	94022425	5	3	180	1	0	0	0	0	0	0	1	0	655	1652	57	5	2181	5	ANKRD32	5	94022425	Splice_Site	SNP	T	TCGA-HC-7745-01A-11D-2114-08	50322147	94022425	86892835	19	8340											
HIST1H4B	8366	broad.mit.edu	37	chr6	26027359	26027359	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaattcgcttaaccccaccaCgcctagcaaggcgccgaatg	12	6	8	15	4	0	0	0	0	0	0	1	1	0	0	5	1	2	2	5	1	5	3			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr6:26027359C>T	ENST00000377364.3	-	1	121	c.122G>A	c.(121-123)cGt>cAt	p.R41H		NM_003544.2	NP_003535.1	P62805	H4_HUMAN	histone cluster 1, H4b	41					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						AACCCCACCACGCCTAGCAAG	0.552													4	62					0	0	1	0	0	T	26027359	C	T	26027359	3	4	180	1	0	0	0	0	1	0	0	0	7207	536	19	1	193	1	HIST1H4B	6	26027359	Missense_Mutation	SNP	C	TCGA-HC-7745-01A-11D-2114-08		26027359	145087708	20	8341											
DNAH8	1769	broad.mit.edu	37	chr6	38810577	38810577	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacagagacactgggatagAatctccgagttaactggaac	16	7	10	8	1	1	2	0	0	1	2	2	6	1	4	1	2	3	1	1	2	5	2			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr6:38810577A>T	ENST00000359357.3	+	33	4346	c.4092A>T	c.(4090-4092)agA>agT	p.R1364S	DNAH8_ENST00000449981.2_Missense_Mutation_p.R1581S|DNAH8_ENST00000441566.1_Missense_Mutation_p.R1364S					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ACTGGGATAGAATCTCCGAGT	0.383													24	99					0	0	1	0	0	T	38810577	A	T	38810577	3	4	180	1	0	0	0	0	1	0	0	0	4634	243	9	5	4214	5	DNAH8	6	38810577	Missense_Mutation	SNP	A	TCGA-HC-7745-01A-11D-2114-08	12783218	38810577	132304490	21	8342											
PKHD1	5314	broad.mit.edu	37	chr6	51774158	51774158	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agacttgaaactgcactcccTtcaactggacctggctgggc	9	9	10	13	0	1	2	1	1	0	1	2	3	2	3	2	3	3	2	2	3	2	2			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr6:51774158T>C	ENST00000371117.3	-	40	6880	c.6605A>G	c.(6604-6606)aAg>aGg	p.K2202R	PKHD1_ENST00000340994.4_Missense_Mutation_p.K2202R	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2202					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTGCACTCCCTTCAACTGGAC	0.532													3	185					0	0	1	0	0	C	51774158	T	C	51774158	3	2	180	1	0	0	0	0	1	0	0	0	12019	1609	56	3	5770	3	PKHD1	6	51774158	Missense_Mutation	SNP	T	TCGA-HC-7745-01A-11D-2114-08	12963581	51774158	119340909	22	8343											
CYP2W1	54905	broad.mit.edu	37	chr7	1024635	1024635	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggctgcccgccagttcacGgtgcgtgccctgcacagcct	5	7	13	16	3	1	0	1	0	0	0	1	0	1	0	4	2	5	3	4	2	0	1			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr7:1024635G>A	ENST00000340150.6	+	3	241	c.219G>A	c.(217-219)acG>acA	p.T73T	CYP2W1_ENST00000308919.7_Silent_p.T129T			Q8TAV3	CP2W1_HUMAN	cytochrome P450, family 2, subfamily W, polypeptide 1	129					xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		GCCAGTTCACGGTGCGTGCCC	0.652													9	60					0	0	1	0	0	A	1024635	G	A	1024635	2	1	180	1	0	0	0	0	0	0	0	1	4199	1103	39	1		1	CYP2W1	7	1024635	Silent	SNP	G	TCGA-HC-7745-01A-11D-2114-08		1024635	158114028	23	8344											
FOXP2	93986	broad.mit.edu	37	chr7	114270016	114270018	+	In_Frame_Del	DEL	CAG	CAG	-																															aacagcagcagcagcagcaaCagcagcagcagcagcaacag																										TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr7:114270016_114270018delCAG	ENST00000393500.3	+	11	1148_1150	c.328_330delCAG	c.(328-330)del	p.Q116del	FOXP2_ENST00000350908.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000393498.2_In_Frame_Del_p.Q171del|FOXP2_ENST00000393491.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000408937.3_In_Frame_Del_p.Q216del|FOXP2_ENST00000403559.4_In_Frame_Del_p.Q208del|FOXP2_ENST00000393494.2_In_Frame_Del_p.Q191del|FOXP2_ENST00000360232.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000390668.3_In_Frame_Del_p.Q215del|FOXP2_ENST00000378237.3_In_Frame_Del_p.Q191del|FOXP2_ENST00000393489.3_In_Frame_Del_p.Q99del			O15409	FOXP2_HUMAN	forkhead box P2	191	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.Q210Q(2)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						gcagcagcaacagcagcagcagc	0.507													7	51	---	---	---	---						-	114270018	CAG	-	114270016	7	5	180	1	0	1	0	1	0	0	0	0	6061	479	17	0	701	0	FOXP2	7	114270016	In_Frame_Del	DEL	CAG	TCGA-HC-7745-01A-11D-2114-08	113245381	114270016	44868647	24	8345											
FSCN3	29999	broad.mit.edu	37	chr7	127235557	127235557	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagtgcctaatctctggtcGttatttggagtccaatggca	8	13	10	10	1	1	0	0	0	1	0	4	1	2	1	3	3	1	2	3	3	3	3			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr7:127235557G>A	ENST00000265825.5	+	2	560	c.341G>A	c.(340-342)cGt>cAt	p.R114H	FSCN3_ENST00000420086.2_5'UTR	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)	114						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging	p.R114H(1)		endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						ATCTCTGGTCGTTATTTGGAG	0.567													3	57					0	0	1	0	0	A	127235557	G	A	127235557	3	1	180	1	0	0	0	0	1	0	0	0	6104	1145	40	1	347	1	FSCN3	7	127235557	Missense_Mutation	SNP	G	TCGA-HC-7745-01A-11D-2114-08	12965541	127235557	31903106	25	8346											
TEX15	56154	broad.mit.edu	37	chr8	30701810	30701810	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtgggcaggtaaaataggcGtatgattaactcctagaatt	14	11	11	5	1	0	2	0	1	0	1	1	2	1	2	1	3	1	3	1	3	7	6			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr8:30701810G>A	ENST00000256246.2	-	1	4798	c.4724C>T	c.(4723-4725)aCg>aTg	p.T1575M		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1575										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TAAAATAGGCGTATGATTAAC	0.388													9	104					0	0	1	0	0	A	30701810	G	A	30701810	3	1	180	1	0	0	0	0	1	0	0	0	15838	1145	40	1	3661	1	TEX15	8	30701810	Missense_Mutation	SNP	G	TCGA-HC-7745-01A-11D-2114-08		30701810	115662212	26	8347											
ELAVL2	1993	broad.mit.edu	37	chr9	23701423	23701423	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cggtcctggataccttctgtTtggagactggtacagctggg	6	12	14	9	1	1	1	0	0	1	1	2	3	2	2	2	5	3	3	2	5	2	4			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr9:23701423T>C	ENST00000397312.2	-	5	941	c.667A>G	c.(667-669)Aac>Gac	p.N223D	ELAVL2_ENST00000544538.1_Missense_Mutation_p.N223D|ELAVL2_ENST00000380110.4_Missense_Mutation_p.N252D|ELAVL2_ENST00000223951.6_Missense_Mutation_p.N223D|ELAVL2_ENST00000380117.1_Missense_Mutation_p.N223D	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	223					regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		TACCTTCTGTTTGGAGACTGG	0.488													32	224					0	0	1	0	0	C	23701423	T	C	23701423	3	2	180	1	0	0	0	0	1	0	0	0	5078	1841	64	3	424	3	ELAVL2	9	23701423	Missense_Mutation	SNP	T	TCGA-HC-7745-01A-11D-2114-08		23701423	117512008	27	8348											
ZNF658	26149	broad.mit.edu	37	chr9	40773282	40773282	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaattgtaggtgaaagatcTcccacattcattacattcat	13	14	6	8	0	3	3	2	2	1	1	4	3	3	3	1	1	1	1	1	1	4	5			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr9:40773282T>C	ENST00000602553.1	-	5	2287	c.1993A>G	c.(1993-1995)Aga>Gga	p.R665G	ZNF658_ENST00000441795.1_Intron|ZNF658_ENST00000377626.3_Missense_Mutation_p.R665G			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	665					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GTGAAAGATCTCCCACATTCA	0.403													3	156					0	0	1	0	0	C	40773282	T	C	40773282	3	2	180	1	0	0	0	0	1	0	0	0	18126	1559	54	3	1190	3	ZNF658	9	40773282	Missense_Mutation	SNP	T	TCGA-HC-7745-01A-11D-2114-08	17071859	40773282	100440149	28	8349											
OR13C9	286362	broad.mit.edu	37	chr9	107379676	107379676	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggtagcatccaagtcatcTgaattaagtgtctctttaga	11	14	8	8	1	3	2	1	1	2	1	6	2	4	2	1	1	1	2	1	1	5	4			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	3cae220e-d1a9-454a-82c3-f381e1b08a26	g.chr9:107379676T>C	ENST00000259362.1	-	1	809	c.810A>G	c.(808-810)tcA>tcG	p.S270S		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						CCAAGTCATCTGAATTAAGTG	0.403													4	86					0	0	1	0	0	C	107379676	T	C	107379676	2	2	180	1	0	0	0	0	0	0	0	1	10987	1567	55	3		3	OR13C9	9	107379676	Silent	SNP	T	TCGA-HC-7745-01A-11D-2114-08	66606394	107379676	33833755	29	8350											
COL5A1	1289	broad.mit.edu	37	chr9	137534099	137534101	+	In_Frame_Del	DEL	GCT	GCT	-																															ggcgccccgctgctgcccccGctgctgctgctgctgctgtg																								rs13288533		TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr9:137534099_137534101delGCT	ENST00000371817.3	+	1	480_482	c.66_68delGCT	c.(64-69)ccg>cc	p.PL22del		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	22					axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		tgctgcccccgctgctgctgctg	0.828													2	4	---	---	---	---						-	137534101	GCT	-	137534099	7	5	180	1	0	1	0	1	0	0	0	0	3719	1074	38	0	68	0	COL5A1	9	137534099	In_Frame_Del	DEL	GCT	TCGA-HC-7745-01A-11D-2114-08	30154423	137534099	3679332	30	8351											
CPN1	1369	broad.mit.edu	37	chr10	101835675	101835675	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggacctcgtacctgggcaGcagccacctcgtagccgtcg	6	8	12	15	4	0	0	0	0	0	0	3	1	0	1	5	2	4	4	5	2	2	3			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr10:101835675G>A	ENST00000370418.3	-	2	664	c.413C>T	c.(412-414)gCt>gTt	p.A138V		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	138	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		TACCTGGGCAGCAGCCACCTC	0.567													3	48					0	0	1	0	0	A	101835675	G	A	101835675	3	1	180	1	0	0	0	0	1	0	0	0	3832	971	34	2	995	2	CPN1	10	101835675	Missense_Mutation	SNP	G	TCGA-HC-7745-01A-11D-2114-08		101835675	33699072	31	8352											
EIF3M	10480	broad.mit.edu	37	chr11	32610273	32610273	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaacgcccgtctctgagactGcagttgtaagttaagatctg	10	11	11	9	2	2	2	0	1	2	2	3	4	2	2	1	0	2	4	1	0	3	3			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr11:32610273G>A	ENST00000531120.1	+	3	372	c.309G>A	c.(307-309)ctG>ctA	p.L103L	EIF3M_ENST00000524896.1_Intron	NM_006360.4	NP_006351.2	Q7L2H7	EIF3M_HUMAN	eukaryotic translation initiation factor 3, subunit M	103						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16	Breast(20;0.109)					CTCTGAGACTGCAGTTGTAAG	0.408													4	122					0	0	1	0	0	A	32610273	G	A	32610273	2	1	180	1	0	0	0	0	0	0	0	1	5051	1306	46	2		2	EIF3M	11	32610273	Silent	SNP	G	TCGA-HC-7745-01A-11D-2114-08		32610273	102396243	32	8353											
MADD	8567	broad.mit.edu	37	chr11	47296303	47296303	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcttcaccctcactgacaaGgacactggagtcacgcgata	11	8	9	13	2	4	1	3	1	1	0	4	4	4	3	1	2	0	0	1	2	2	2			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr11:47296303G>A	ENST00000342922.4	+	3	609	c.252G>A	c.(250-252)aaG>aaA	p.K84K	MADD_ENST00000406482.1_Silent_p.K84K|MADD_ENST00000407859.3_Silent_p.K84K|MADD_ENST00000349238.3_Silent_p.K84K|MADD_ENST00000311027.5_Silent_p.K84K|MADD_ENST00000402192.2_Silent_p.K84K|MADD_ENST00000402799.1_Silent_p.K84K|MADD_ENST00000395344.3_Silent_p.K84K|MADD_ENST00000395336.3_Silent_p.K84K	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	84	UDENN.				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		TCACTGACAAGGACACTGGAG	0.567													3	135					0	0	1	0	0	A	47296303	G	A	47296303	2	1	180	1	0	0	0	0	0	0	0	1	9198	991	35	2		2	MADD	11	47296303	Silent	SNP	G	TCGA-HC-7745-01A-11D-2114-08	14686030	47296303	87710213	33	8354											
FADS1	3992	broad.mit.edu	37	chr11	61574167	61574167	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatttgtgctggtggttgtaCggcatatattttttcttctg	5	21	10	5	1	2	0	0	0	2	0	2	0	2	0	0	3	2	4	0	3	4	10			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr11:61574167C>T	ENST00000350997.7	-	6	1177	c.945G>A	c.(943-945)ccG>ccA	p.P315P	FADS1_ENST00000433932.1_Silent_p.P174P|FADS1_ENST00000542506.1_Silent_p.P174P|FADS2_ENST00000574708.1_Intron	NM_013402.4	NP_037534.3	O60427	FADS1_HUMAN	fatty acid desaturase 1	258					cell-cell signaling|cellular response to starvation|electron transport chain|icosanoid biosynthetic process|phospholipid biosynthetic process|regulation of cell differentiation|regulation of transcription, DNA-dependent|transport	endoplasmic reticulum membrane|integral to membrane|microsome	C-5 sterol desaturase activity|heme binding|protein binding			central_nervous_system(1)|endometrium(1)|lung(1)|urinary_tract(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GGTGGTTGTACGGCATATATT	0.483													20	110					0	0	1	0	0	T	61574167	C	T	61574167	2	4	180	1	0	0	0	0	0	0	0	1	5396	523	19	1		1	FADS1	11	61574167	Silent	SNP	C	TCGA-HC-7745-01A-11D-2114-08	14277864	61574167	73432349	34	8355											
SPTBN2	6712	broad.mit.edu	37	chr11	66460020	66460020	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cactcacagtcacatgctcgTagtcctggcccagctcgtgg	7	9	10	15	2	2	0	2	0	0	0	5	0	3	0	2	2	2	3	2	2	1	1			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr11:66460020T>C	ENST00000533211.1	-	26	5508	c.5177A>G	c.(5176-5178)tAc>tGc	p.Y1726C	SPTBN2_ENST00000529997.1_Missense_Mutation_p.Y1726C|SPTBN2_ENST00000309996.2_Missense_Mutation_p.Y1726C			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1726					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CACATGCTCGTAGTCCTGGCC	0.647													3	109					0	0	1	0	0	C	66460020	T	C	66460020	3	2	180	1	0	0	0	0	1	0	0	0	15176	1638	57	3	2047	3	SPTBN2	11	66460020	Missense_Mutation	SNP	T	TCGA-HC-7745-01A-11D-2114-08	4885853	66460020	68546496	35	8356											
USP35	57558	broad.mit.edu	37	chr11	77924826	77924826	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgcaatcctgcaggtggCaatggtggtgacttccacag	8	9	14	10	0	0	1	0	1	0	0	2	1	2	1	2	5	2	4	2	5	2	1			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr11:77924826C>T	ENST00000529308.1	+	11	3285	c.3024C>T	c.(3022-3024)ggC>ggT	p.G1008G	USP35_ENST00000530267.1_Silent_p.G576G|USP35_ENST00000526425.1_Silent_p.G739G|USP35_ENST00000441408.2_Silent_p.G594G|USP35_ENST00000530535.1_3'UTR	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	1008					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			CTGCAGGTGGCAATGGTGGTG	0.582													4	74					0	0	1	0	0	T	77924826	C	T	77924826	2	4	180	1	0	0	0	0	0	0	0	1	17126	697	25	2		2	USP35	11	77924826	Silent	SNP	C	TCGA-HC-7745-01A-11D-2114-08	11464806	77924826	57081690	36	8357											
C11orf63	79864	broad.mit.edu	37	chr11	122774732	122774732	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtctgtggaagcgttgccGgagtccacggacagctcttt	6	11	13	11	3	2	0	0	0	2	0	3	3	3	3	2	3	3	2	2	3	1	2			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr11:122774732G>A	ENST00000227349.2	+	3	741	c.444G>A	c.(442-444)ccG>ccA	p.P148P	C11orf63_ENST00000307257.6_Silent_p.P148P|C11orf63_ENST00000531316.1_Silent_p.P148P	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	148										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		AAGCGTTGCCGGAGTCCACGG	0.532													3	118					0	0	1	0	0	A	122774732	G	A	122774732	2	1	180	1	0	0	0	0	0	0	0	1	1659	1103	39	1		1	C11orf63	11	122774732	Silent	SNP	G	TCGA-HC-7745-01A-11D-2114-08	44849906	122774732	12231784	37	8358											
STT3A	3703	broad.mit.edu	37	chr11	125472775	125472775	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgacattcggaatgtctgtGtgttcctggcccctctcttc	4	15	9	13	2	2	0	0	0	2	0	7	2	3	1	3	2	0	1	3	2	1	3			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr11:125472775G>A	ENST00000392708.4	+	5	508	c.349G>A	c.(349-351)Gtg>Atg	p.V117M	STT3A_ENST00000531491.1_Missense_Mutation_p.V25M|STT3A_ENST00000529196.1_Missense_Mutation_p.V117M	NM_001278503.1|NM_001278504.1|NM_152713.3	NP_001265432.1|NP_001265433.1|NP_689926.1	P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	117					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		GAATGTCTGTGTGTTCCTGGC	0.488													22	55					0	0	1	0	0	A	125472775	G	A	125472775	3	1	180	1	0	0	0	0	1	0	0	0	15389	1377	48	2	363	2	STT3A	11	125472775	Missense_Mutation	SNP	G	TCGA-HC-7745-01A-11D-2114-08	2698043	125472775	9533741	38	8359											
CLEC1B	51266	broad.mit.edu	37	chr12	10147815	10147815	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgagataatccgacccaacGaattaaatgagtcctggctt	13	9	9	10	3	0	2	0	1	0	1	2	5	2	2	3	1	1	1	3	1	5	3			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr12:10147815G>A	ENST00000428126.2	-	6	639	c.370C>T	c.(370-372)Cgt>Tgt	p.R124C	CLEC1B_ENST00000298527.6_Missense_Mutation_p.R157C|CLEC1B_ENST00000348658.4_Missense_Mutation_p.R124C			Q9P126	CLC1B_HUMAN	C-type lectin domain family 1, member B	157	C-type lectin.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	protein binding|sugar binding|transmembrane receptor activity	p.R157C(1)|p.?(1)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1)	19						CCGACCCAACGAATTAAATGA	0.418													51	267					0	0	1	0	0	A	10147815	G	A	10147815	3	1	180	1	0	0	0	0	1	0	0	0	3529	1058	37	1	228	1	CLEC1B	12	10147815	Missense_Mutation	SNP	G	TCGA-HC-7745-01A-11D-2114-08		10147815	123704080	39	8360											
DENND5B	160518	broad.mit.edu	37	chr12	31586051	31586051	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaataagcctagttcatggcGcttgctgtgaggcaccccag	9	9	12	11	1	1	1	1	1	0	0	1	2	1	1	3	2	2	4	3	2	3	4			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr12:31586051G>A	ENST00000354285.4	-	9	2389	c.2210C>T	c.(2209-2211)gCg>gTg	p.A737V	DENND5B_ENST00000306833.6_Intron|DENND5B_ENST00000389082.5_Intron|DENND5B_ENST00000536562.1_Intron			Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	0						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						AGTTCATGGCGCTTGCTGTGA	0.433													3	77					0	0	1	0	0	A	31586051	G	A	31586051	3	1	180	1	0	0	0	0	1	0	0	0	4465	1102	38	1		1	DENND5B	12	31586051	Missense_Mutation	SNP	G	TCGA-HC-7745-01A-11D-2114-08	21438236	31586051	102265844	40	8361											
DPY19L2	283417	broad.mit.edu	37	chr12	64041106	64041106	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctagtccaaataaattcaTtattcccatgaatgtgcaat	14	15	4	8	0	2	1	1	1	1	0	4	1	4	1	2	0	1	1	2	0	7	6			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr12:64041106T>C	ENST00000324472.4	-	5	811	c.628A>G	c.(628-630)Atg>Gtg	p.M210V	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	210					multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		AATAAATTCATTATTCCCATG	0.318													4	110					0	0	1	0	0	C	64041106	T	C	64041106	3	2	180	1	0	0	0	0	1	0	0	0	4767	1493	52	3	1720	3	DPY19L2	12	64041106	Missense_Mutation	SNP	T	TCGA-HC-7745-01A-11D-2114-08	32455055	64041106	69810789	41	8362											
OR11H4	390442	broad.mit.edu	37	chr14	20711208	20711208	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatctggtatgtgtcctcCactattcctaacatgctagt	9	14	8	10	0	1	1	0	0	1	1	4	2	4	1	3	1	2	2	3	1	4	5	rs150420661		TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr14:20711208C>T	ENST00000315409.2	+	1	311	c.258C>T	c.(256-258)tcC>tcT	p.S86S		NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H, member 4	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		ATGTGTCCTCCACTATTCCTA	0.453													5	166					0	0	1	0	0	T	20711208	C	T	20711208	2	4	180	1	0	0	0	0	0	0	0	1	10976	581	21	2		2	OR11H4	14	20711208	Silent	SNP	C	TCGA-HC-7745-01A-11D-2114-08		20711208	86638332	42	8363											
MMP14	4323	broad.mit.edu	37	chr14	23312555	23312555	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctcggccatcatggcacccTtttaccagtggatggacacg	8	9	10	14	2	1	0	1	0	0	0	2	2	1	2	4	4	1	1	4	4	1	2			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr14:23312555T>C	ENST00000311852.6	+	5	1039	c.778T>C	c.(778-780)Ttt>Ctt	p.F260L	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	260						extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		CATGGCACCCTTTTACCAGTG	0.587													4	166					0	0	1	0	0	C	23312555	T	C	23312555	3	2	180	1	0	0	0	0	1	0	0	0	9701	1609	56	3	796	3	MMP14	14	23312555	Missense_Mutation	SNP	T	TCGA-HC-7745-01A-11D-2114-08	2601347	23312555	84036985	43	8364											
ACTC1	70	broad.mit.edu	37	chr15	35085746	35085746	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcacctacgtaggagtcctTctgacccatacccaccataa	12	9	5	15	1	2	1	1	1	1	0	3	2	3	2	5	1	2	1	5	1	4	5			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr15:35085746T>G	ENST00000290378.4	-	3	809	c.154A>C	c.(154-156)Aag>Cag	p.K52Q	RP11-814P5.1_ENST00000503496.1_RNA	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	52					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		TAGGAGTCCTTCTGACCCATA	0.453													5	27					0	0	1	0	0	G	35085746	T	G	35085746	3	3	180	1	0	0	0	0	1	0	0	0	195	1792	62	5	999	5	ACTC1	15	35085746	Missense_Mutation	SNP	T	TCGA-HC-7745-01A-11D-2114-08		35085746	67445646	44	8365											
ANKDD1A	348094	broad.mit.edu	37	chr15	65234714	65234714	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggcacaacttccctgccttGgtccggctcctcatcaactc	7	10	7	17	1	2	0	2	0	0	0	6	0	5	0	4	3	3	2	4	3	2	2			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr15:65234714G>T	ENST00000380230.3	+	10	947	c.918G>T	c.(916-918)ttG>ttT	p.L306F	ANKDD1A_ENST00000395723.1_Missense_Mutation_p.L215F|ANKDD1A_ENST00000395720.1_Missense_Mutation_p.L306F|ANKDD1A_ENST00000357698.3_Missense_Mutation_p.L306F	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	306					signal transduction					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						TCCCTGCCTTGGTCCGGCTCC	0.602													3	42					0.0215528	0.0218607	1	1	0	T	65234714	G	T	65234714	3	4	180	1	0	0	0	0	1	0	0	0	620	1339	47	4	956	4	ANKDD1A	15	65234714	Missense_Mutation	SNP	G	TCGA-HC-7745-01A-11D-2114-08	30148968	65234714	37296678	45	8366											
MESP1	55897	broad.mit.edu	37	chr15	90293435	90293435	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcatccaggtctccaacagAgccagcacgtcgcccggaag	10	4	12	15	3	1	1	0	0	1	1	4	2	2	2	4	3	3	2	4	3	2	0			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr15:90293435A>C	ENST00000300057.4	-	2	825	c.747T>G	c.(745-747)gcT>gcG	p.A249A	MESP1_ENST00000559894.1_5'UTR	NM_018670.3	NP_061140.1	Q9BRJ9	MESP1_HUMAN	mesoderm posterior 1 homolog (mouse)	249					cardiac atrium formation|cardiac cell fate determination|cardiac vascular smooth muscle cell differentiation|cardiac ventricle formation|cardioblast anterior-lateral migration|cardioblast migration to the midline involved in heart field formation|endothelial cell differentiation|gastrulation|growth involved in heart morphogenesis|heart looping|lateral mesoderm development|negative regulation of endodermal cell fate specification|negative regulation of mesodermal cell fate specification|negative regulation of transcription, DNA-dependent|neurogenesis|Notch signaling pathway|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|positive regulation of hepatocyte differentiation|positive regulation of Notch signaling pathway|positive regulation of striated muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|secondary heart field specification|sinoatrial node cell differentiation|sinus venosus morphogenesis		sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(1)|kidney(1)	2	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			TCTCCAACAGAGCCAGCACGT	0.647													11	73					0	0	1	0	0	C	90293435	A	C	90293435	2	2	180	1	0	0	0	0	0	0	0	1	9532	291	11	5		5	MESP1	15	90293435	Silent	SNP	A	TCGA-HC-7745-01A-11D-2114-08	25058721	90293435	12237957	46	8367											
PRKCB	5579	broad.mit.edu	37	chr16	24105528	24105528	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagaagactgtcagtagagaTttgggattgggatttgacca	12	11	13	5	0	1	4	1	1	0	3	1	7	1	6	1	2	0	1	1	2	2	4			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr16:24105528T>C	ENST00000303531.7	+	7	883	c.731T>C	c.(730-732)aTt>aCt	p.I244T	PRKCB_ENST00000482000.1_3'UTR|PRKCB_ENST00000321728.7_Missense_Mutation_p.I244T	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	244	C2.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	TCAGTAGAGATTTGGGATTGG	0.418													17	52					0	0	1	0	0	C	24105528	T	C	24105528	3	2	180	1	0	0	0	0	1	0	0	0	12560	1493	52	3	757	3	PRKCB	16	24105528	Missense_Mutation	SNP	T	TCGA-HC-7745-01A-11D-2114-08		24105528	66249225	47	8368											
ZNF785	146540	broad.mit.edu	37	chr16	30594188	30594188	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcttctcgccggtgtgtatgCgcctgtggatggccagcagg	4	10	16	11	3	1	0	0	0	1	0	2	1	1	1	3	4	2	3	3	4	1	2			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr16:30594188C>A	ENST00000395216.2	-	3	1070	c.911G>T	c.(910-912)cGc>cTc	p.R304L	AC002310.7_ENST00000492040.1_RNA|AC002310.7_ENST00000486926.1_RNA|ZNF785_ENST00000470110.1_Missense_Mutation_p.R289L	NM_152458.6	NP_689671.2	A8K8V0	ZN785_HUMAN	zinc finger protein 785	304					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						GGTGTGTATGCGCCTGTGGAT	0.647													3	47					0.000602214	0.00061967	1	1	0	A	30594188	C	A	30594188	3	1	180	1	0	0	0	0	1	0	0	0	18206	768	27	4	310	4	ZNF785	16	30594188	Missense_Mutation	SNP	C	TCGA-HC-7745-01A-11D-2114-08	6488660	30594188	59760565	48	8369											
SCRN2	90507	broad.mit.edu	37	chr17	45916217	45916217	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccttggcagcctccatgcGcacaggctgctgggtcaggg	5	7	16	13	1	1	0	1	0	0	0	2	0	2	0	3	5	3	4	3	5	0	1			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr17:45916217G>A	ENST00000407215.3	-	5	793	c.712C>T	c.(712-714)Cgc>Tgc	p.R238C	SCRN2_ENST00000584123.1_Missense_Mutation_p.R246C|SCRN2_ENST00000290216.9_Missense_Mutation_p.R238C			Q96FV2	SCRN2_HUMAN	secernin 2	238					proteolysis		dipeptidase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						GCCTCCATGCGCACAGGCTGC	0.672													5	136					0	0	1	0	0	A	45916217	G	A	45916217	3	1	180	1	0	0	0	0	1	0	0	0	13993	1087	38	1	599	1	SCRN2	17	45916217	Missense_Mutation	SNP	G	TCGA-HC-7745-01A-11D-2114-08		45916217	35278993	49	8370											
MTMR4	9110	broad.mit.edu	37	chr17	56585536	56585536	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcacctatacacaaccacGggaatccgcttccaggagcg	11	6	8	16	3	1	0	1	0	0	0	3	2	3	2	5	2	3	1	5	2	4	3			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr17:56585536G>A	ENST00000323456.5	-	8	775	c.651C>T	c.(649-651)ccC>ccT	p.P217P	MTMR4_ENST00000579925.1_Silent_p.P217P	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	217	Myotubularin phosphatase.					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACACAACCACGGGAATCCGCT	0.522													33	82					0	0	1	0	0	A	56585536	G	A	56585536	2	1	180	1	0	0	0	0	0	0	0	1	9994	1103	39	1		1	MTMR4	17	56585536	Silent	SNP	G	TCGA-HC-7745-01A-11D-2114-08	10669319	56585536	24609674	50	8371											
ZNF780A	284323	broad.mit.edu	37	chr19	40580582	40580582	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcgaaaggctttcccacaCtccttacattcaaagggttt	11	12	7	11	1	1	0	1	0	0	0	4	1	3	0	2	2	1	2	2	2	3	4			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr19:40580582C>T	ENST00000450241.2	-	6	1976	c.1665G>A	c.(1663-1665)gaG>gaA	p.E555E	ZNF780A_ENST00000594395.1_Silent_p.E590E|ZNF780A_ENST00000595687.2_Silent_p.E589E|ZNF780A_ENST00000340963.5_Silent_p.E589E|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000455521.1_Silent_p.E590E			O75290	Z780A_HUMAN	zinc finger protein 780A	589					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CTTTCCCACACTCCTTACATT	0.393													5	174					0	0	1	0	0	T	40580582	C	T	40580582	2	4	180	1	0	0	0	0	0	0	0	1	18201	564	20	2		2	ZNF780A	19	40580582	Silent	SNP	C	TCGA-HC-7745-01A-11D-2114-08		40580582	18548401	51	8372											
GPR4	2828	broad.mit.edu	37	chr19	46095073	46095073	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtagagggatggcggaaagaGgtggtccacgcgcgagtcca	10	5	18	8	4	0	2	0	0	0	2	2	5	2	4	2	5	0	1	2	5	2	1			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr19:46095073G>A	ENST00000323040.4	-	2	996	c.52C>T	c.(52-54)Ctc>Ttc	p.L18F	OPA3_ENST00000544371.1_Intron	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	18						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		GGCGGAAAGAGGTGGTCCACG	0.672													10	59					0	0	1	0	0	A	46095073	G	A	46095073	3	1	180	1	0	0	0	0	1	0	0	0	6734	1000	35	2	1040	2	GPR4	19	46095073	Missense_Mutation	SNP	G	TCGA-HC-7745-01A-11D-2114-08	5514491	46095073	13033910	52	8373											
DOPEY2	9980	broad.mit.edu	37	chr21	37617884	37617884	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaggaggcggacttggagctCcaggccctcaccacatccag	9	5	13	14	1	1	0	1	0	0	0	3	4	3	3	4	5	1	1	4	5	0	1	rs112487012		TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chr21:37617884C>T	ENST00000399151.3	+	19	3691	c.3606C>T	c.(3604-3606)ctC>ctT	p.L1202L		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1202					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						ACTTGGAGCTCCAGGCCCTCA	0.622													4	35					0	0	1	0	0	T	37617884	C	T	37617884	2	4	180	1	0	0	0	0	0	0	0	1	4735	842	30	2		2	DOPEY2	21	37617884	Silent	SNP	C	TCGA-HC-7745-01A-11D-2114-08		37617884	10512011	53	8374											
ASMT	438	broad.mit.edu	37	chrX	1755354	1755354	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atttcttcaaagaccctcttCcggaagctgatctgtacatc	10	13	6	12	1	4	2	1	1	3	1	6	3	5	3	2	1	2	2	2	1	3	4			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chrX:1755354C>T	ENST00000381241.3	+	8	1010	c.811C>T	c.(811-813)Ccg>Tcg	p.P271S	ASMT_ENST00000381233.3_Missense_Mutation_p.P196S|RP13-297E16.3_ENST00000509780.1_RNA|ASMT_ENST00000381229.4_Missense_Mutation_p.P243S	NM_001171038.1|NM_004043.2	NP_001164509.1|NP_004034.2	P46597	HIOM_HUMAN	acetylserotonin O-methyltransferase	243					melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGACCCTCTTCCGGAAGCTGA	0.542													17	267					0	0	1	0	0	T	1755354	C	T	1755354	3	4	180	1	0	0	0	0	1	0	0	0	1044	855	30	2	841	2	ASMT	23	1755354	Missense_Mutation	SNP	C	TCGA-HC-7745-01A-11D-2114-08		1755354	153515206	54	8375											
HTR2C	3358	broad.mit.edu	37	chrX	113965800	113965800	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaatacctccgatggtggaCgcttcaaattcccagacggg	10	9	10	12	3	2	1	2	0	0	1	4	3	4	2	3	3	1	1	3	3	3	3			TCGA-HC-7745-01A-11D-2114-08	TCGA-HC-7745-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e51da70-984c-491f-a9eb-1bbb34f01a49	fabbba2f-92b0-48b5-be7a-e4c9fc08b795	g.chrX:113965800C>T	ENST00000276198.1	+	4	861	c.133C>T	c.(133-135)Cgc>Tgc	p.R45C	HTR2C_ENST00000371950.3_Missense_Mutation_p.R45C|HTR2C_ENST00000371951.1_Missense_Mutation_p.R45C	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	45					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	CGATGGTGGACGCTTCAAATT	0.443													25	75					0	0	1	0	0	T	113965800	C	T	113965800	3	4	180	1	0	0	0	0	1	0	0	0	7487	536	19	1	139	1	HTR2C	23	113965800	Missense_Mutation	SNP	C	TCGA-HC-7745-01A-11D-2114-08	112210446	113965800	41304760	55	8376											
MTHFR	4524	broad.mit.edu	37	chr1	11860307	11860307	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtagtcaccaaactcacttCggatgtgcttcaccaggtcc	10	10	8	13	1	3	0	3	0	0	0	5	1	4	1	3	2	2	2	3	2	2	3			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr1:11860307C>T	ENST00000376592.1	-	3	676	c.548G>A	c.(547-549)cGa>cAa	p.R183Q	MTHFR_ENST00000376583.3_Missense_Mutation_p.R224Q|MTHFR_ENST00000376585.1_Missense_Mutation_p.R224Q|MTHFR_ENST00000376590.3_Missense_Mutation_p.R183Q			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	183					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	AAACTCACTTCGGATGTGCTT	0.567													5	266					0	0	1	0	0	T	11860307	C	T	11860307	3	4	181	1	0	0	0	0	1	0	0	0	9979	884	31	1	1458	1	MTHFR	1	11860307	Missense_Mutation	SNP	C	TCGA-HC-7747-01A-11D-2114-08		11860307	237390314	1	8377											
HNRNPCL1	343069	broad.mit.edu	37	chr1	12908039	12908039	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccatacttggaaaagatcGcctccacatccgatttcttg	10	12	7	12	2	1	1	0	0	1	1	4	3	3	2	4	1	2	0	4	1	3	4			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr1:12908039G>A	ENST00000317869.6	-	2	329	c.104C>T	c.(103-105)gCg>gTg	p.A35V		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						GGAAAAGATCGCCTCCACATC	0.473													6	184					0	0	1	0	0	A	12908039	G	A	12908039	3	1	181	1	0	0	0	0	1	0	0	0	7304	1087	38	1	779	1	HNRNPCL1	1	12908039	Missense_Mutation	SNP	G	TCGA-HC-7747-01A-11D-2114-08	1047732	12908039	236342582	2	8378											
RAD54L	8438	broad.mit.edu	37	chr1	46736426	46736426	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaggcagctaggagaggagCggctgcgggagctcaccagc	10	3	17	11	2	1	1	1	0	0	1	1	4	1	3	1	5	5	4	1	5	1	1	rs150138364		TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr1:46736426C>T	ENST00000371975.4	+	10	1812	c.1138C>T	c.(1138-1140)Cgg>Tgg	p.R380W	RAD54L_ENST00000442598.1_Missense_Mutation_p.R380W	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	380			R -> Q (in dbSNP:rs28363234).		meiosis	nucleus	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		AGGAGAGGAGCGGCTGCGGGA	0.498								Direct reversal of damage;Homologous recombination					4	62					0	0	1	0	0	T	46736426	C	T	46736426	3	4	181	1	0	0	0	0	1	0	0	0	13045	759	27	1	1176	1	RAD54L	1	46736426	Missense_Mutation	SNP	C	TCGA-HC-7747-01A-11D-2114-08	33828387	46736426	202514195	3	8379											
CACHD1	57685	broad.mit.edu	37	chr1	65142590	65142590	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcacagaaaccccagctgCgaggtccaccaggagccggt	10	4	12	15	2	0	1	0	0	0	1	1	3	1	2	5	3	5	2	5	3	1	0	rs150699745		TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr1:65142590C>T	ENST00000371073.2	+	22	2988	c.2988C>T	c.(2986-2988)tgC>tgT	p.C996C	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Silent_p.C945C			Q5VU97	CAHD1_HUMAN	cache domain containing 1	996					calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						ACCCCAGCTGCGAGGTCCACC	0.547													27	198					0	0	1	0	0	T	65142590	C	T	65142590	2	4	181	1	0	0	0	0	0	0	0	1	2555	776	27	1		1	CACHD1	1	65142590	Silent	SNP	C	TCGA-HC-7747-01A-11D-2114-08	18406164	65142590	184108031	4	8380											
RPTN	126638	broad.mit.edu	37	chr1	152128277	152128280	+	Frame_Shift_Del	DEL	TGTC	TGTC	-																															catagtgggaactctggcctTgtctgtctgtctgaccgtag																										TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr1:152128277_152128280delTGTC	ENST00000316073.3	-	3	1359_1362	c.1295_1298delGACA	c.(1294-1299)aafs	p.RQ432fs		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	432	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding	p.R432K(1)		breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACTCTGGCCTTGTCTGTCTGTCTG	0.525													8	1215	---	---	---	---						-	152128280	TGTC	-	152128277	7	5	181	1	0	1	0	1	0	0	0	0	13716	1812	63	0	1060	0	RPTN	1	152128277	Frame_Shift_Del	DEL	TGTC	TCGA-HC-7747-01A-11D-2114-08	86985687	152128277	97122344	5	8381											
SPTA1	6708	broad.mit.edu	37	chr1	158627418	158627418	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgcctagcagctcgagcaCggagagactccatattctgg	9	8	12	12	3	1	1	0	0	1	1	4	4	2	2	2	2	3	3	2	2	2	3			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr1:158627418C>T	ENST00000368148.3	-	19	2834	c.2654G>A	c.(2653-2655)cGt>cAt	p.R885H	SPTA1_ENST00000368147.3_Missense_Mutation_p.R885H	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	885					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGCTCGAGCACGGAGAGACTC	0.468													15	187					0	0	1	0	0	T	158627418	C	T	158627418	3	4	181	1	0	0	0	0	1	0	0	0	15172	536	19	1	4741	1	SPTA1	1	158627418	Missense_Mutation	SNP	C	TCGA-HC-7747-01A-11D-2114-08	6499141	158627418	90623203	6	8382											
CD48	962	broad.mit.edu	37	chr1	160654785	160654785	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaccttagagatgtacagtgCgccactctgaggatcaagtc	11	9	11	10	1	2	2	1	1	1	1	3	5	2	3	2	1	2	1	2	1	3	2			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr1:160654785C>T	ENST00000368045.3	-	2	316	c.277G>A	c.(277-279)Gca>Aca	p.A93T	CD48_ENST00000368046.3_Missense_Mutation_p.A93T			P09326	CD48_HUMAN	CD48 molecule	93	Ig-like C2-type 1.				blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ATGTACAGTGCGCCACTCTGA	0.423													4	166					0	0	1	0	0	T	160654785	C	T	160654785	3	4	181	1	0	0	0	0	1	0	0	0	3042	768	27	1	466	1	CD48	1	160654785	Missense_Mutation	SNP	C	TCGA-HC-7747-01A-11D-2114-08	2027367	160654785	88595836	7	8383											
ADIPOR1	51094	broad.mit.edu	37	chr1	202914151	202914151	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctctgaatgacaatagaCggtgtgaaagagccaggaga	14	9	12	6	1	1	6	0	3	1	3	2	7	1	6	1	2	1	0	1	2	4	2			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr1:202914151C>T	ENST00000340990.5	-	5	875	c.577G>A	c.(577-579)Gtc>Atc	p.V193I	ADIPOR1_ENST00000367254.3_Intron|ADIPOR1_ENST00000436244.1_Missense_Mutation_p.V193I	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	adiponectin receptor 1	193					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			TGACAATAGACGGTGTGAAAG	0.443													4	155					0	0	1	0	0	T	202914151	C	T	202914151	3	4	181	1	0	0	0	0	1	0	0	0	317	536	19	1	566	1	ADIPOR1	1	202914151	Missense_Mutation	SNP	C	TCGA-HC-7747-01A-11D-2114-08	42259366	202914151	46336470	8	8384											
PIK3C2B	5287	broad.mit.edu	37	chr1	204409362	204409362	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagcggaagatgaccatgcGcatgtccagcccctcctgga	9	6	12	14	2	0	2	0	1	0	1	2	4	2	4	5	2	3	2	5	2	1	0			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr1:204409362G>A	ENST00000367187.3	-	23	3893	c.3337C>T	c.(3337-3339)Cgc>Tgc	p.R1113C	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R1085C	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1113	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			ATGACCATGCGCATGTCCAGC	0.597													4	160					0	0	1	0	0	A	204409362	G	A	204409362	3	1	181	1	0	0	0	0	1	0	0	0	11958	1087	38	1	1615	1	PIK3C2B	1	204409362	Missense_Mutation	SNP	G	TCGA-HC-7747-01A-11D-2114-08	1495211	204409362	44841259	9	8385											
LRPPRC	10128	broad.mit.edu	37	chr2	44121719	44121719	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggaattgtatgcttcttccTtttcatttaattcaggaatc	9	18	7	7	0	3	0	2	0	1	0	5	2	4	2	1	2	1	2	1	2	4	9			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr2:44121719T>C	ENST00000260665.7	-	36	4007	c.3950A>G	c.(3949-3951)aAg>aGg	p.K1317R		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	1317	RNA-binding.				mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGCTTCTTCCTTTTCATTTAA	0.269													3	81					0	0	1	0	0	C	44121719	T	C	44121719	3	2	181	1	0	0	0	0	1	0	0	0	9010	1609	56	3	246	3	LRPPRC	2	44121719	Missense_Mutation	SNP	T	TCGA-HC-7747-01A-11D-2114-08		44121719	199077654	10	8386											
DQX1	165545	broad.mit.edu	37	chr2	74750268	74750268	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgggaaccctcttgctcgCaatcgtcttgcctctgcctg	4	12	11	14	2	3	0	0	0	3	0	5	1	3	1	3	2	4	2	3	2	2	2			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr2:74750268C>T	ENST00000404568.3	-	6	1341	c.1122G>A	c.(1120-1122)ttG>ttA	p.L374L	DQX1_ENST00000393951.2_Silent_p.L374L	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	374	Helicase C-terminal.					nucleus	ATP binding|helicase activity|nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						CTCTTGCTCGCAATCGTCTTG	0.507													7	193					0	0	1	0	0	T	74750268	C	T	74750268	2	4	181	1	0	0	0	0	0	0	0	1	4777	709	25	2		2	DQX1	2	74750268	Silent	SNP	C	TCGA-HC-7747-01A-11D-2114-08	30628549	74750268	168449105	11	8387											
RANBP2	5903	broad.mit.edu	37	chr2	109365452	109365452	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaacttttgccaacaaaagCgggcagtctgcattatatga	14	10	9	8	1	1	1	0	1	1	0	1	2	1	1	1	1	5	2	1	1	6	4			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr2:109365452C>T	ENST00000283195.6	+	9	1266	c.1140C>T	c.(1138-1140)agC>agT	p.S380S		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	380					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CCAACAAAAGCGGGCAGTCTG	0.353													6	232					0	0	1	0	0	T	109365452	C	T	109365452	2	4	181	1	0	0	0	0	0	0	0	1	13080	767	27	1		1	RANBP2	2	109365452	Silent	SNP	C	TCGA-HC-7747-01A-11D-2114-08	34615184	109365452	133833921	12	8388											
LRP2	4036	broad.mit.edu	37	chr2	170136033	170136033	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attaacccagtccacagccaGgttctctggggtttcaacag	10	10	9	12	0	2	0	1	0	1	0	4	0	3	0	3	3	3	2	3	3	2	3			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr2:170136033G>A	ENST00000263816.3	-	12	1699	c.1414C>T	c.(1414-1416)Ctg>Ttg	p.L472L	LRP2_ENST00000443831.1_Silent_p.L472L	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	472					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TCCACAGCCAGGTTCTCTGGG	0.353													19	77					0	0	1	0	0	A	170136033	G	A	170136033	2	1	181	1	0	0	0	0	0	0	0	1	9001	991	35	2		2	LRP2	2	170136033	Silent	SNP	G	TCGA-HC-7747-01A-11D-2114-08	60770581	170136033	73063340	13	8389											
DNPEP	23549	broad.mit.edu	37	chr2	220251660	220251660	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcagtctccttgagttcaCtgaagccagcctggagaagg	9	10	11	11	0	3	3	2	2	2	1	5	4	3	3	3	2	2	1	3	2	2	2			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr2:220251660C>T	ENST00000373972.1	-	0	194				DNPEP_ENST00000273075.4_Missense_Mutation_p.S58N|DNPEP_ENST00000523282.1_Missense_Mutation_p.S66N			Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase						peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	L-Glutamic Acid(DB00142)	CTTGAGTTCACTGAAGCCAGC	0.587													16	79					0	0	1	0	0	T	220251660	C	T	220251660	1	4	181	1	0	0	0	0	0	0	0	0	4706	565	20	2		2	DNPEP	2	220251660	Translation_Start_Site	SNP	C	TCGA-HC-7747-01A-11D-2114-08	50115627	220251660	22947713	14	8390											
DLEC1	9940	broad.mit.edu	37	chr3	38139333	38139333	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagatccggaacgtcagccaGctcccagccacatggcgcat	10	5	10	16	3	1	1	1	0	0	1	3	2	3	2	4	2	4	2	4	2	1	0			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr3:38139333G>A	ENST00000308059.6	+	18	2685	c.2664G>A	c.(2662-2664)caG>caA	p.Q888Q	DLEC1_ENST00000452631.2_Silent_p.Q888Q|DLEC1_ENST00000346219.3_Silent_p.Q888Q			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	888					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		ACGTCAGCCAGCTCCCAGCCA	0.597													3	76					0	0	1	0	0	A	38139333	G	A	38139333	2	1	181	1	0	0	0	0	0	0	0	1	4580	962	34	2		2	DLEC1	3	38139333	Silent	SNP	G	TCGA-HC-7747-01A-11D-2114-08		38139333	159883097	15	8391											
SCN10A	6336	broad.mit.edu	37	chr3	38743403	38743403	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagtagtactgcctcaaagcGaacatcttcatgacacattc	14	10	6	11	1	3	1	2	1	1	0	4	2	3	1	1	0	4	2	1	0	5	4	rs141828577		TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr3:38743403G>A	ENST00000449082.2	-	26	4583	c.4584C>T	c.(4582-4584)ttC>ttT	p.F1528F		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1528					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GCCTCAAAGCGAACATCTTCA	0.468													14	75					0	0	1	0	0	A	38743403	G	A	38743403	2	1	181	1	0	0	0	0	0	0	0	1	13966	1049	37	1		1	SCN10A	3	38743403	Silent	SNP	G	TCGA-HC-7747-01A-11D-2114-08	604070	38743403	159279027	16	8392											
UROC1	131669	broad.mit.edu	37	chr3	126216983	126216983	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccccgatgtgcacacccagCggaaaggcccaaatccctgg	10	4	10	17	2	0	0	0	0	0	0	1	2	1	1	5	3	2	1	5	3	2	0			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr3:126216983C>T	ENST00000290868.2	-	14	1402	c.1349G>A	c.(1348-1350)cGc>cAc	p.R450H	UROC1_ENST00000383579.3_Missense_Mutation_p.R510H	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	450			R -> C (in UROD; loss of activity).		histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		GCACACCCAGCGGAAAGGCCC	0.627													9	250					0	0	1	0	0	T	126216983	C	T	126216983	3	4	181	1	0	0	0	0	1	0	0	0	17088	768	27	1	709	1	UROC1	3	126216983	Missense_Mutation	SNP	C	TCGA-HC-7747-01A-11D-2114-08	87473580	126216983	71805447	17	8393											
TOPBP1	11073	broad.mit.edu	37	chr3	133358890	133358890	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caacagccaagctatagtaaCggcaggtaaattccacttct	14	9	7	11	1	1	0	0	0	1	0	2	0	2	0	2	2	4	4	2	2	7	6			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr3:133358890C>T	ENST00000260810.5	-	13	2277	c.2146G>A	c.(2146-2148)Gtt>Att	p.V716I		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	716	BRCT 5.				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						GCTATAGTAACGGCAGGTAAA	0.393								Other conserved DNA damage response genes					10	68					0	0	1	0	0	T	133358890	C	T	133358890	3	4	181	1	0	0	0	0	1	0	0	0	16430	536	19	1	2486	1	TOPBP1	3	133358890	Missense_Mutation	SNP	C	TCGA-HC-7747-01A-11D-2114-08	7141907	133358890	64663540	18	8394											
MFI2	4241	broad.mit.edu	37	chr3	196735710	196735710	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcggtagccgtaataccgcTcctggctgttgcccacacac	7	8	10	16	4	0	0	0	0	0	0	1	0	1	0	4	2	3	5	4	2	3	4			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr3:196735710T>G	ENST00000296350.5	-	12	1765	c.1652A>C	c.(1651-1653)gAg>gCg	p.E551A		NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	551	Transferrin-like 2.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		GTAATACCGCTCCTGGCTGTT	0.672													6	77					0	0	1	0	0	G	196735710	T	G	196735710	3	3	181	1	0	0	0	0	1	0	0	0	9572	1551	54	5	584	5	MFI2	3	196735710	Missense_Mutation	SNP	T	TCGA-HC-7747-01A-11D-2114-08	63376820	196735710	1286720	19	8395											
TAPT1	202018	broad.mit.edu	37	chr4	16189980	16189981	+	Splice_Site	INS	-	-	A																															aaacagacgatcagctacctINSaaaaaaaaaaattatttgta																										TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr4:16189980_16189981insA	ENST00000405303.2	-	5	696		c.e5-2		TAPT1_ENST00000399920.3_Splice_Site|TAPT1_ENST00000508888.1_Splice_Site|TAPT1_ENST00000304584.8_Splice_Site	NM_153365.2	NP_699196.2	Q6NXT6	TAPT1_HUMAN	transmembrane anterior posterior transformation 1							integral to membrane	growth hormone-releasing hormone receptor activity			NS(1)|breast(2)|cervix(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	10						ATCAGCTACCTAAAAAAAAAAA	0.317													4	7	---	---	---	---						A	16189981	-	A	16189980	8	5	181	1	0	1	1	0	0	0	1	0	15611	1536	53	0	1132	0	TAPT1	4	16189980	Splice_Site	INS	-	TCGA-HC-7747-01A-11D-2114-08		16189980	174964296	20	8396											
ANKRD17	26057	broad.mit.edu	37	chr4	74010532	74010532	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcattaaaggagttcttccAccttcagattcatgttcctg	9	16	6	10	0	4	1	3	0	1	1	6	2	6	2	3	1	0	2	3	1	2	7			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr4:74010532A>C	ENST00000358602.4	-	11	2003	c.1887T>G	c.(1885-1887)ggT>ggG	p.G629G	ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000330838.6_Silent_p.G629G|ANKRD17_ENST00000509867.2_Silent_p.G516G	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	629					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GAGTTCTTCCACCTTCAGATT	0.303													5	34					0	0	1	0	0	C	74010532	A	C	74010532	2	2	181	1	0	0	0	0	0	0	0	1	642	146	6	5		5	ANKRD17	4	74010532	Silent	SNP	A	TCGA-HC-7747-01A-11D-2114-08	57820552	74010532	117143744	21	8397											
CDKL2	8999	broad.mit.edu	37	chr4	76507096	76507096	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccctgaatcatctgacagggGaggtcctgatacctataaat	12	10	9	10	0	2	3	1	3	1	0	3	4	3	4	3	3	1	0	3	3	5	3			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr4:76507096G>A	ENST00000429927.2	-	11	2132	c.1429C>T	c.(1429-1431)Ccc>Tcc	p.P477S	CDKL2_ENST00000307465.4_Missense_Mutation_p.P554S	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	477					sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TCTGACAGGGGAGGTCCTGAT	0.383													7	40					0	0	1	0	0	A	76507096	G	A	76507096	3	1	181	1	0	0	0	0	1	0	0	0	3176	1174	41	2	56	2	CDKL2	4	76507096	Missense_Mutation	SNP	G	TCGA-HC-7747-01A-11D-2114-08	2496564	76507096	114647180	22	8398											
SLC45A2	51151	broad.mit.edu	37	chr5	33947262	33947262	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggcagaggttcaatgacaGcacacctccttttcttcctc	10	11	7	13	0	2	2	1	1	1	1	5	2	4	2	3	2	1	3	3	2	2	4			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr5:33947262G>A	ENST00000382102.3	-	6	1431	c.1374C>T	c.(1372-1374)tgC>tgT	p.C458C	SLC45A2_ENST00000342059.3_Intron|SLC45A2_ENST00000296589.4_Intron	NM_001012509.2	NP_001012527.1	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	0					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						TTCAATGACAGCACACCTCCT	0.498													4	262					0	0	1	0	0	A	33947262	G	A	33947262	2	1	181	1	0	0	0	0	0	0	0	1	14696	963	34	2		2	SLC45A2	5	33947262	Silent	SNP	G	TCGA-HC-7747-01A-11D-2114-08		33947262	146967998	23	8399											
CCL28	56477	broad.mit.edu	37	chr5	43382044	43382044	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgccatggtgtttcttcCtgtggcaaacatttccttta	6	18	7	10	0	2	0	0	0	2	0	4	0	4	0	3	2	2	2	3	2	2	6			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr5:43382044C>A	ENST00000361115.4	-	3	376	c.302G>T	c.(301-303)aGg>aTg	p.R101M	CCL28_ENST00000513525.1_Missense_Mutation_p.R54M	NM_148672.2	NP_683513.1	Q9NRJ3	CCL28_HUMAN	chemokine (C-C motif) ligand 28	101					chemotaxis|immune response	extracellular space	chemokine activity			kidney(3)|lung(3)|ovary(1)	7						GTGTTTCTTCCTGTGGCAAAC	0.443													5	175					0.184627	0.18913	1	1	0	A	43382044	C	A	43382044	3	1	181	1	0	0	0	0	1	0	0	0	2920	681	24	4	85	4	CCL28	5	43382044	Missense_Mutation	SNP	C	TCGA-HC-7747-01A-11D-2114-08	9434782	43382044	137533216	24	8400											
CKMT2	1160	broad.mit.edu	37	chr5	80548571	80548571	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggccgagtgcctcaccccCgccatttatgccaagcttcg	7	9	9	16	3	1	0	1	0	0	0	2	1	1	0	6	1	3	1	6	1	2	3			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr5:80548571C>T	ENST00000424301.2	+	4	448	c.210C>T	c.(208-210)ccC>ccT	p.P70P	CTC-281B15.1_ENST00000500148.2_RNA|CKMT2_ENST00000254035.4_Silent_p.P70P|CTC-281B15.1_ENST00000502041.2_RNA|CTC-281B15.1_ENST00000512287.1_RNA|CTC-281B15.1_ENST00000511495.1_RNA|CKMT2_ENST00000437669.1_Silent_p.P70P|CTC-281B15.1_ENST00000501927.2_RNA|CTC-281B15.1_ENST00000503483.2_RNA|CTC-281B15.1_ENST00000505295.1_RNA	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)	70	Phosphagen kinase N-terminal.				creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	GCCTCACCCCCGCCATTTATG	0.617													13	82					0	0	1	0	0	T	80548571	C	T	80548571	2	4	181	1	0	0	0	0	0	0	0	1	3474	639	23	1		1	CKMT2	5	80548571	Silent	SNP	C	TCGA-HC-7747-01A-11D-2114-08	37166527	80548571	100366689	25	8401											
PCDHB14	0	broad.mit.edu	37	chr5	140605164	140605164	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctggtggtggcattggcctCggtgtcgtcgctcttcctct	1	14	13	13	3	2	0	0	0	2	0	6	0	3	0	3	5	0	2	3	5	0	2			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr5:140605164C>T	ENST00000239449.4	+	1	2087	c.2087C>T	c.(2086-2088)tCg>tTg	p.S696L	PCDHB14_ENST00000515856.2_Missense_Mutation_p.S543L	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		696					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCATTGGCCTCGGTGTCGTCG	0.711													4	203					0	0	1	0	0	T	140605164	C	T	140605164	3	4	181	1	0	0	0	0	1	0	0	0	11586	893	31	1	2089	1	PCDHB14	5	140605164	Missense_Mutation	SNP	C	TCGA-HC-7747-01A-11D-2114-08	60056593	140605164	40310096	26	8402											
PPP2R2B	5521	broad.mit.edu	37	chr5	146070770	146070770	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccttctggcctcttatcaCgctcgctgactttccacagc	6	12	7	16	2	3	1	1	1	2	0	5	1	4	1	3	1	2	2	3	1	1	3			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr5:146070770C>T	ENST00000394413.3	-	4	938	c.368G>A	c.(367-369)cGt>cAt	p.R123H	PPP2R2B_ENST00000394411.4_Missense_Mutation_p.R123H|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.R126H|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.R112H|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.R112H|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.R189H|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.R181H|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.R123H|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.R129H|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.R123H			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	123					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTCTTATCACGCTCGCTGAC	0.507													7	67					0	0	1	0	0	T	146070770	C	T	146070770	3	4	181	1	0	0	0	0	1	0	0	0	12434	536	19	1	987	1	PPP2R2B	5	146070770	Missense_Mutation	SNP	C	TCGA-HC-7747-01A-11D-2114-08	5465606	146070770	34844490	27	8403											
SLC22A23	63027	broad.mit.edu	37	chr6	3287259	3287259	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcatagaagttctccaggagCggcaccttcacctcgtggcc	8	8	11	14	2	2	1	1	0	1	1	4	2	2	2	4	3	1	3	4	3	2	3	rs149321576		TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr6:3287259C>A	ENST00000436008.2	-	7	1842	c.1380G>T	c.(1378-1380)ccG>ccT	p.P460P	SLC22A23_ENST00000490273.1_Silent_p.P179P|PSMG4_ENST00000451246.2_Intron|SLC22A23_ENST00000406686.3_Silent_p.P460P|SLC22A23_ENST00000380302.4_Silent_p.P179P			A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23	460					ion transport	integral to membrane	transmembrane transporter activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				TCTCCAGGAGCGGCACCTTCA	0.632													3	63					0.00909568	0.00979535	1	1	0	A	3287259	C	A	3287259	2	1	181	1	0	0	0	0	0	0	0	1	14508	755	27	4		4	SLC22A23	6	3287259	Silent	SNP	C	TCGA-HC-7747-01A-11D-2114-08		3287259	167827808	28	8404											
MAK	4117	broad.mit.edu	37	chr6	10784683	10784683	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatatcttgattgtttcaagTagtactgtttagaggttgga	10	17	11	3	0	2	2	1	1	1	1	2	4	2	3	0	2	1	5	0	2	5	9			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr6:10784683T>C	ENST00000313243.2	-	11	1821	c.1439A>G	c.(1438-1440)tAc>tGc	p.Y480C	SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron|MAK_ENST00000474039.1_Missense_Mutation_p.Y480C|MAK_ENST00000354489.2_Missense_Mutation_p.Y480C|MAK_ENST00000538030.1_3'UTR			P20794	MAK_HUMAN	male germ cell-associated kinase	480					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				TTGTTTCAAGTAGTACTGTTT	0.418													6	84					0	0	1	0	0	C	10784683	T	C	10784683	3	2	181	1	0	0	0	0	1	0	0	0	9247	1638	57	3	448	3	MAK	6	10784683	Missense_Mutation	SNP	T	TCGA-HC-7747-01A-11D-2114-08	7497424	10784683	160330384	29	8405											
PI16	221476	broad.mit.edu	37	chr6	36931339	36931339	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccccaatacctctgccacCgctaatgccacgggtgggcg	7	8	10	16	3	1	0	0	0	1	0	2	0	2	0	6	2	3	1	6	2	3	3			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr6:36931339C>T	ENST00000373674.3	+	5	1549	c.1221C>T	c.(1219-1221)acC>acT	p.T407T	PI16_ENST00000491324.1_Intron	NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN	peptidase inhibitor 16	407						extracellular region|integral to membrane	peptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCTCTGCCACCGCTAATGCCA	0.612													4	110					0	0	1	0	0	T	36931339	C	T	36931339	2	4	181	1	0	0	0	0	0	0	0	1	11917	639	23	1		1	PI16	6	36931339	Silent	SNP	C	TCGA-HC-7747-01A-11D-2114-08	26146656	36931339	134183728	30	8406											
MOXD1	26002	broad.mit.edu	37	chr6	132645229	132645229	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacctcagtccagaattatcTattaagcctagaacaaaagc	17	9	5	10	0	2	2	1	0	1	2	3	2	3	2	3	0	4	0	3	0	9	4			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr6:132645229T>G	ENST00000367963.3	-	7	1072	c.954A>C	c.(952-954)atA>atC	p.I318I	MOXD1_ENST00000336749.3_Silent_p.I250I|MOXD1_ENST00000489128.1_5'UTR	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	318					catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		CAGAATTATCTATTAAGCCTA	0.348													5	65					0	0	1	0	0	G	132645229	T	G	132645229	2	3	181	1	0	0	0	0	0	0	0	1	9769	1512	53	5		5	MOXD1	6	132645229	Silent	SNP	T	TCGA-HC-7747-01A-11D-2114-08	95713890	132645229	38469838	31	8407											
RP1	6101	broad.mit.edu	37	chr8	55540415	55540415	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggagaaccatacctatgagGgagcttgcccaattgatgag	13	8	12	8	0	0	4	0	3	0	1	0	6	0	5	3	2	4	1	3	2	4	4			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr8:55540415G>A	ENST00000220676.1	+	4	4121	c.3973G>A	c.(3973-3975)Gga>Aga	p.G1325R		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1325					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TACCTATGAGGGAGCTTGCCC	0.393													26	108					0	0	1	0	0	A	55540415	G	A	55540415	3	1	181	1	0	0	0	0	1	0	0	0	13584	1233	43	2	3983	2	RP1	8	55540415	Missense_Mutation	SNP	G	TCGA-HC-7747-01A-11D-2114-08		55540415	90823607	32	8408											
EFR3A	23167	broad.mit.edu	37	chr8	132966122	132966122	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcgcaaaacagtcaacgaTgaacttcgggccaccatttg	12	9	9	11	3	1	1	1	1	0	0	3	2	1	1	2	1	3	2	2	1	4	3			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr8:132966122T>C	ENST00000254624.5	+	6	771	c.546T>C	c.(544-546)gaT>gaC	p.D182D	EFR3A_ENST00000334503.4_Silent_p.D182D|EFR3A_ENST00000519656.1_Silent_p.D146D	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	182						plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			CAGTCAACGATGAACTTCGGG	0.363													2	7					0	0	1	0	0	C	132966122	T	C	132966122	2	2	181	1	0	0	0	0	0	0	0	1	4984	1461	51	3		3	EFR3A	8	132966122	Silent	SNP	T	TCGA-HC-7747-01A-11D-2114-08	77425707	132966122	13397900	33	8409											
ZER1	10444	broad.mit.edu	37	chr9	131517732	131517732	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgctgggcaagaagatgtccGgatgtagccgcagggtctcc	8	7	15	11	3	1	2	0	0	1	2	3	3	2	3	3	3	1	4	3	3	3	1			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr9:131517732G>A	ENST00000291900.2	-	2	519	c.113C>T	c.(112-114)cCg>cTg	p.P38L	ZER1_ENST00000494461.1_Intron	NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	38					ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity	p.P38L(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						GAAGATGTCCGGATGTAGCCG	0.587													4	174					0	0	1	0	0	A	131517732	G	A	131517732	3	1	181	1	0	0	0	0	1	0	0	0	17683	1116	39	1	2247	1	ZER1	9	131517732	Missense_Mutation	SNP	G	TCGA-HC-7747-01A-11D-2114-08		131517732	9695699	34	8410											
GAD2	2572	broad.mit.edu	37	chr10	26513522	26513522	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggaatatgtcacactaaaGaaaatgagagaaatcattgg	18	10	9	4	0	2	3	2	1	0	2	2	5	2	4	0	2	0	0	0	2	7	4			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr10:26513522G>T	ENST00000376261.3	+	6	1169	c.666G>T	c.(664-666)aaG>aaT	p.K222N	GAD2_ENST00000376248.1_Missense_Mutation_p.K108N|GAD2_ENST00000259271.3_Missense_Mutation_p.K222N	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	222					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	TCACACTAAAGAAAATGAGAG	0.378													5	120					0.0293803	0.0312399	1	1	0	T	26513522	G	T	26513522	3	4	181	1	0	0	0	0	1	0	0	0	6215	933	33	4	688	4	GAD2	10	26513522	Missense_Mutation	SNP	G	TCGA-HC-7747-01A-11D-2114-08		26513522	109021225	35	8411											
CSTF2T	23283	broad.mit.edu	37	chr10	53458034	53458034	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacacgtgtctctaagacctCagtttccatggcacgagtct	9	12	8	12	2	3	1	1	0	2	1	5	2	4	1	2	1	1	2	2	1	2	3			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr10:53458034C>T	ENST00000331173.4	-	1	1321	c.1276G>A	c.(1276-1278)Gag>Aag	p.E426K	PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000401604.2_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	426	9 X 5 AA tandem repeats of M-E-T-R-[AG].|Gly-rich.				mRNA processing	nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		TCTAAGACCTCAGTTTCCATG	0.527													8	90					0	0	1	0	0	T	53458034	C	T	53458034	3	4	181	1	0	0	0	0	1	0	0	0	4010	835	29	2	578	2	CSTF2T	10	53458034	Missense_Mutation	SNP	C	TCGA-HC-7747-01A-11D-2114-08	26944512	53458034	82076713	36	8412											
SEC24C	9632	broad.mit.edu	37	chr10	75530065	75530065	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcccgttgagagtactaccGaaccaccagcagttcgagcc	10	7	9	15	3	0	1	0	1	0	1	2	4	1	1	5	0	5	4	5	0	3	4			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr10:75530065G>A	ENST00000339365.2	+	22	3052	c.2890G>A	c.(2890-2892)Gaa>Aaa	p.E964K	SEC24C_ENST00000411652.2_Missense_Mutation_p.E845K|SEC24C_ENST00000540668.1_Missense_Mutation_p.E212K|SEC24C_ENST00000535742.1_Missense_Mutation_p.E212K|SEC24C_ENST00000496827.1_3'UTR|SEC24C_ENST00000345254.4_Missense_Mutation_p.E964K	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	964					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					GAGTACTACCGAACCACCAGC	0.507													4	288					0	0	1	0	0	A	75530065	G	A	75530065	3	1	181	1	0	0	0	0	1	0	0	0	14050	1059	37	1	2968	1	SEC24C	10	75530065	Missense_Mutation	SNP	G	TCGA-HC-7747-01A-11D-2114-08	22072031	75530065	60004682	37	8413											
SLCO2B1	11309	broad.mit.edu	37	chr11	74904264	74904264	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcactcgcccccacagtCttccccagggtgctgctgca	5	9	9	18	1	2	0	0	0	2	0	4	0	3	0	4	1	4	4	4	1	0	1			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr11:74904264C>A	ENST00000289575.5	+	9	1472	c.1075_splice	c.e9-1	p.V359_splice	SLCO2B1_ENST00000532236.1_Splice_Site_p.V243_splice|SLCO2B1_ENST00000525650.1_Splice_Site_p.V215_splice|SLCO2B1_ENST00000454962.2_Splice_Site_p.V132_splice|SLCO2B1_ENST00000428359.2_Splice_Site_p.V337_splice|SLCO2B1_ENST00000341411.4_Splice_Site_p.V132_splice|SLCO2B1_ENST00000531756.1_Splice_Site_p.V104_splice	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	359					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	CCCCCACAGTCTTCCCCAGGG	0.617													5	120					0.000157383	0.000176269	1	1	0	A	74904264	C	A	74904264	5	1	181	1	0	0	0	0	0	0	1	0	14782	927	32	4	1111	4	SLCO2B1	11	74904264	Splice_Site	SNP	C	TCGA-HC-7747-01A-11D-2114-08		74904264	60102252	38	8414											
PRKAG1	5571	broad.mit.edu	37	chr12	49398943	49398943	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcttctagctcatagatCtgtacctgaaagcagaagca	12	12	8	9	0	4	3	1	1	3	2	4	3	4	3	1	0	4	5	1	0	5	5			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr12:49398943C>A	ENST00000548065.1	-	6	771	c.315G>T	c.(313-315)caG>caT	p.Q105H	PRKAG1_ENST00000395170.3_Missense_Mutation_p.Q21H|RP11-386G11.5_ENST00000552933.1_RNA|PRKAG1_ENST00000552212.1_Missense_Mutation_p.Q73H|RP11-386G11.5_ENST00000552284.1_RNA|PRKAG1_ENST00000316299.5_Missense_Mutation_p.Q114H|RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA|PRKAG1_ENST00000547306.1_Missense_Mutation_p.Q54H			P54619	AAKG1_HUMAN	protein kinase, AMP-activated, gamma 1 non-catalytic subunit	105					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|positive regulation of protein kinase activity|regulation of fatty acid oxidation|regulation of glycolysis|spermatogenesis	cytosol	cAMP-dependent protein kinase activity|cAMP-dependent protein kinase regulator activity|protein kinase binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	9						GCTCATAGATCTGTACCTGAA	0.423													5	118					1	1	1	1	0	A	49398943	C	A	49398943	3	1	181	1	0	0	0	0	1	0	0	0	12552	912	32	4	708	4	PRKAG1	12	49398943	Missense_Mutation	SNP	C	TCGA-HC-7747-01A-11D-2114-08		49398943	84452952	39	8415											
ERBB3	2065	broad.mit.edu	37	chr12	56481660	56481660	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtgctgccatgatgagtgtgCcgggggctgctcaggccctc	4	9	16	12	1	1	2	1	2	0	0	2	2	1	2	3	3	4	3	3	3	0	0			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr12:56481660C>T	ENST00000267101.3	+	6	1135	c.695C>T	c.(694-696)gCc>gTc	p.A232V	ERBB3_ENST00000415288.2_Missense_Mutation_p.A173V|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	232					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GATGAGTGTGCCGGGGGCTGC	0.547													9	201					0	0	1	0	0	T	56481660	C	T	56481660	3	4	181	1	0	0	0	0	1	0	0	0	5236	739	26	2	848	2	ERBB3	12	56481660	Missense_Mutation	SNP	C	TCGA-HC-7747-01A-11D-2114-08	7082717	56481660	77370235	40	8416											
NAP1L1	4673	broad.mit.edu	37	chr12	76444310	76444312	+	Splice_Site	DEL	CAT	CAT	-																															gcaggattcaaattcgcttaCatcatcatcatcatcttcaa																										TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr12:76444310_76444312delCAT	ENST00000261182.8	-	12	1544_1546	c.1059_splice	c.e12+1	p.D354_splice	NAP1L1_ENST00000547993.1_Splice_Site_p.D171_splice|NAP1L1_ENST00000431879.3_Splice_Site_p.D286_splice|NAP1L1_ENST00000549596.1_Splice_Site_p.D354_splice|NAP1L1_ENST00000548044.1_Splice_Site_p.D313_splice|NAP1L1_ENST00000535020.2_Splice_Site_p.D354_splice|NAP1L1_ENST00000544816.1_Splice_Site_p.D171_splice|NAP1L1_ENST00000542344.1_Splice_Site_p.D312_splice|NAP1L1_ENST00000547773.1_Splice_Site_p.D291_splice|NAP1L1_ENST00000552342.1_Splice_Site_p.D365_splice|NAP1L1_ENST00000393263.3_Splice_Site_p.D354_splice	NM_004537.4|NM_139207.2	NP_004528.1|NP_631946.1	P55209	NP1L1_HUMAN	nucleosome assembly protein 1-like 1	354	Asp/Glu-rich (acidic).				DNA replication|nucleosome assembly|positive regulation of cell proliferation	chromatin assembly complex|melanosome	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9		Colorectal(145;0.09)				AATTCGCTTACATCATCATCATC	0.345													7	130	---	---	---	---						-	76444312	CAT	-	76444310	8	5	181	1	0	1	0	1	0	0	1	0	10204	492	17	0	131	0	NAP1L1	12	76444310	Splice_Site	DEL	CAT	TCGA-HC-7747-01A-11D-2114-08	19962650	76444310	57407585	41	8417											
ZDHHC17	23390	broad.mit.edu	37	chr12	77222174	77222174	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacttgtgttttacagatccTttttcgatcattcaatgcat	10	18	5	8	1	2	1	2	0	0	1	4	2	3	1	1	0	3	2	1	0	3	6			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr12:77222174T>C	ENST00000426126.2	+	10	1694	c.1045T>C	c.(1045-1047)Ttt>Ctt	p.F349L	ZDHHC17_ENST00000334822.5_Missense_Mutation_p.F349L	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	349					lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						TTACAGATCCTTTTTCGATCA	0.308													3	197					0	0	1	0	0	C	77222174	T	C	77222174	3	2	181	1	0	0	0	0	1	0	0	0	17665	1609	56	3	1083	3	ZDHHC17	12	77222174	Missense_Mutation	SNP	T	TCGA-HC-7747-01A-11D-2114-08	777864	77222174	56629721	42	8418											
ATP2A2	488	broad.mit.edu	37	chr12	110777198	110777199	+	Frame_Shift_Ins	INS	-	-	G																															aggacatcaatgagcaagatINSgtttgtgaaggcaagtatgg																										TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr12:110777198_110777199insG	ENST00000395494.2	+	11	2014_2015	c.1451_1452insG	c.(1450-1452)attfs	p.I484fs	ATP2A2_ENST00000539276.2_Frame_Shift_Ins_p.I511fs|ATP2A2_ENST00000308664.6_Frame_Shift_Ins_p.I511fs			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	511					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						ATGAGCAAGATGTTTGTGAAGG	0.381													18	60	---	---	---	---						G	110777199	-	G	110777198	7	5	181	1	0	1	1	0	0	0	0	0	1136	1464	51	0	1578	0	ATP2A2	12	110777198	Frame_Shift_Ins	INS	-	TCGA-HC-7747-01A-11D-2114-08	33555024	110777198	23074697	43	8419											
KSR2	283455	broad.mit.edu	37	chr12	118298123	118298123	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acctccttgcgcacatcgacGattcggaaccagtgccgtag	9	8	10	14	5	0	0	0	0	0	0	3	3	1	1	4	1	3	2	4	1	2	3	rs55997942		TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr12:118298123G>A	ENST00000425217.1	-	2	261	c.207C>T	c.(205-207)atC>atT	p.I69I	KSR2_ENST00000339824.5_Silent_p.I98I	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	98					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCACATCGACGATTCGGAACC	0.632													3	48					0	0	1	0	0	A	118298123	G	A	118298123	2	1	181	1	0	0	0	0	0	0	0	1	8621	1048	37	1		1	KSR2	12	118298123	Silent	SNP	G	TCGA-HC-7747-01A-11D-2114-08	7520925	118298123	15553772	44	8420											
PCNX	22990	broad.mit.edu	37	chr14	71500674	71500674	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgcaatccaagatttttcCaaaaacggaagagaaaaatc	19	8	7	7	1	0	2	0	0	0	2	3	4	2	3	2	1	2	1	2	1	7	2			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr14:71500674C>A	ENST00000304743.2	+	18	4141	c.3695C>A	c.(3694-3696)cCa>cAa	p.P1232Q	PCNX_ENST00000439984.3_Missense_Mutation_p.P1121Q|PCNX_ENST00000238570.5_Missense_Mutation_p.P1232Q	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1232						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		AAGATTTTTCCAAAAACGGAA	0.313													3	65					0.115264	0.119533	1	1	0	A	71500674	C	A	71500674	3	1	181	1	0	0	0	0	1	0	0	0	11638	594	21	4	3765	4	PCNX	14	71500674	Missense_Mutation	SNP	C	TCGA-HC-7747-01A-11D-2114-08		71500674	35848866	45	8421											
DEGS2	123099	broad.mit.edu	37	chr14	100613237	100613237	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgtagtactcgggcgcgatcTtccgcacctgtagagaggag	8	8	14	11	5	1	1	0	0	1	1	3	4	2	2	2	2	1	4	2	2	3	4			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr14:100613237T>G	ENST00000305631.5	-	3	1408	c.833A>C	c.(832-834)aAg>aCg	p.K278T	DEGS2_ENST00000553834.1_Missense_Mutation_p.E30D	NM_206918.2	NP_996801.2	Q6QHC5	DEGS2_HUMAN	delta(4)-desaturase, sphingolipid 2	278					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	sphingosine hydroxylase activity			breast(1)|lung(6)|skin(1)	8		Melanoma(154;0.212)				GGGCGCGATCTTCCGCACCTG	0.657													7	87					0	0	1	0	0	G	100613237	T	G	100613237	3	3	181	1	0	0	0	0	1	0	0	0	4451	1609	56	5	142	5	DEGS2	14	100613237	Missense_Mutation	SNP	T	TCGA-HC-7747-01A-11D-2114-08	29112563	100613237	6736303	46	8422											
SPTBN5	51332	broad.mit.edu	37	chr15	42147470	42147470	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgggactcggcggtggcCgccttggtggtcagccaggc	3	8	17	13	3	1	0	1	0	0	0	3	1	2	1	4	7	1	0	4	7	0	1			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr15:42147470C>T	ENST00000320955.6	-	55	9602	c.9375G>A	c.(9373-9375)gcG>gcA	p.A3125A		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3125					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)		CGGCGGTGGCCGCCTTGGTGG	0.677													3	44					0	0	1	0	0	T	42147470	C	T	42147470	2	4	181	1	0	0	0	0	0	0	0	1	15178	639	23	1		1	SPTBN5	15	42147470	Silent	SNP	C	TCGA-HC-7747-01A-11D-2114-08		42147470	60383922	47	8423											
IREB2	3658	broad.mit.edu	37	chr15	78790472	78790472	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attattaaactttgtggcacGaaaattctcatagtatctac	14	15	5	7	1	2	0	1	0	2	0	3	1	2	0	0	1	2	2	0	1	8	7			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr15:78790472G>A	ENST00000258886.8	+	22	3028	c.2879G>A	c.(2878-2880)cGa>cAa	p.R960Q		NM_004136.2	NP_004127.1	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	960							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		TTTGTGGCACGAAAATTCTCA	0.388													5	80					0	0	1	0	0	A	78790472	G	A	78790472	3	1	181	1	0	0	0	0	1	0	0	0	7870	1058	37	1	2965	1	IREB2	15	78790472	Missense_Mutation	SNP	G	TCGA-HC-7747-01A-11D-2114-08	36643002	78790472	23740920	48	8424											
C15orf26	161502	broad.mit.edu	37	chr15	81427611	81427611	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttgttgattttctgtttagGagctcatgaaagacttctta	9	19	8	5	0	3	3	1	2	2	1	3	4	3	4	0	1	1	3	0	1	3	8			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr15:81427611G>T	ENST00000286732.4	+	2	153	c.69_splice	c.e2-1	p.E24_splice		NM_173528.2	NP_775799.2	Q6P656	CO026_HUMAN	chromosome 15 open reading frame 26	24										endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						TTCTGTTTAGGAGCTCATGAA	0.338													5	53					0.000602214	0.000656961	1	1	0	T	81427611	G	T	81427611	5	4	181	1	0	0	0	0	0	0	1	0	1793	1188	41	4	76	4	C15orf26	15	81427611	Splice_Site	SNP	G	TCGA-HC-7747-01A-11D-2114-08	2637139	81427611	21103781	49	8425											
ACAN	176	broad.mit.edu	37	chr15	89398620	89398620	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcccagcactcctacggttgGtgaactgccctctggagctg	6	9	12	14	1	1	1	0	1	1	0	2	2	2	2	3	3	5	3	3	3	2	2			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr15:89398620G>A	ENST00000439576.2	+	12	3178	c.2804G>A	c.(2803-2805)gGt>gAt	p.G935D	ACAN_ENST00000352105.7_Missense_Mutation_p.G935D|ACAN_ENST00000559004.1_Missense_Mutation_p.G935D|ACAN_ENST00000561243.1_Missense_Mutation_p.G935D	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	935					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CCTACGGTTGGTGAACTGCCC	0.557													4	34					0	0	1	0	0	A	89398620	G	A	89398620	3	1	181	1	0	0	0	0	1	0	0	0	117	1261	44	2	2846	2	ACAN	15	89398620	Missense_Mutation	SNP	G	TCGA-HC-7747-01A-11D-2114-08	7971009	89398620	13132772	50	8426											
HS3ST2	9956	broad.mit.edu	37	chr16	22926769	22926769	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgatgcttgggcaaatcaaaAgggagaactcatgtacagat	15	8	11	7	1	2	2	2	0	0	2	2	4	2	2	0	2	3	3	0	2	5	2			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr16:22926769A>G	ENST00000261374.3	+	2	1424	c.990A>G	c.(988-990)aaA>aaG	p.K330K		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	330						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		GCAAATCAAAAGGGAGAACTC	0.418													4	201					0	0	1	0	0	G	22926769	A	G	22926769	2	3	181	1	0	0	0	0	0	0	0	1	7405	69	3	3		3	HS3ST2	16	22926769	Silent	SNP	A	TCGA-HC-7747-01A-11D-2114-08		22926769	67427984	51	8427											
OGFOD1	55239	broad.mit.edu	37	chr16	56485625	56485625	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggacgctgttacggaagaaaCcttgaaaaagcaggtggctg	13	7	14	7	2	0	2	0	1	0	1	0	4	0	4	1	4	3	4	1	4	5	2			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr16:56485625C>A	ENST00000566157.1	+	1	224	c.101C>A	c.(100-102)aCc>aAc	p.T34N	OGFOD1_ENST00000568397.1_Missense_Mutation_p.T34N	NM_018233.3	NP_060703.3	Q8N543	OGFD1_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 1	34							iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8					Vitamin C(DB00126)	ACGGAAGAAACCTTGAAAAAG	0.622													11	51					6.40141e-05	7.26647e-05	1	1	0	A	56485625	C	A	56485625	3	1	181	1	0	0	0	0	1	0	0	0	10889	507	18	4	103	4	OGFOD1	16	56485625	Missense_Mutation	SNP	C	TCGA-HC-7747-01A-11D-2114-08	33558856	56485625	33869128	52	8428											
NLRC5	84166	broad.mit.edu	37	chr16	57088675	57088675	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttttcaggctgagccagacGggactgtccccgaaaagccc	9	7	11	14	2	1	2	1	1	0	1	2	4	2	3	4	2	2	1	4	2	2	2	rs148506460		TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr16:57088675G>A	ENST00000436936.1	+	25	3744	c.3519G>A	c.(3517-3519)acG>acA	p.T1173T	NLRC5_ENST00000308149.7_Silent_p.T1173T|NLRC5_ENST00000262510.6_Silent_p.T1173T|RP11-322D14.2_ENST00000562970.1_RNA|NLRC5_ENST00000539144.1_Silent_p.T1173T			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1173					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				TGAGCCAGACGGGACTGTCCC	0.592													5	410					0	0	1	0	0	A	57088675	G	A	57088675	2	1	181	1	0	0	0	0	0	0	0	1	10517	1103	39	1		1	NLRC5	16	57088675	Silent	SNP	G	TCGA-HC-7747-01A-11D-2114-08	603050	57088675	33266078	53	8429											
GINS3	64785	broad.mit.edu	37	chr16	58437218	58437218	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcccgagaatgcagacattTcccagtctctgctgcaggca	9	9	10	13	1	1	2	0	0	1	2	4	3	3	2	2	1	3	4	2	1	1	1			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr16:58437218T>C	ENST00000318129.5	+	2	611	c.403T>C	c.(403-405)Tcc>Ccc	p.S135P	GINS3_ENST00000426538.2_Missense_Mutation_p.S174P|GINS3_ENST00000328514.7_Intron	NM_022770.3	NP_073607.2	Q9BRX5	PSF3_HUMAN	GINS complex subunit 3 (Psf3 homolog)	135					DNA replication	nucleus				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	7						TGCAGACATTTCCCAGTCTCT	0.517													11	29					0	0	1	0	0	C	58437218	T	C	58437218	3	2	181	1	0	0	0	0	1	0	0	0	6431	1783	62	3	530	3	GINS3	16	58437218	Missense_Mutation	SNP	T	TCGA-HC-7747-01A-11D-2114-08	1348543	58437218	31917535	54	8430											
CDH11	1009	broad.mit.edu	37	chr16	64984879	64984879	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtacaagtcctgcttctgcCgactgaaccctccacgccgg	7	8	10	16	3	1	1	0	1	1	0	3	2	3	1	5	2	4	2	5	2	3	2			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr16:64984879C>T	ENST00000394156.3	-	12	2138	c.1685G>A	c.(1684-1686)cGg>cAg	p.R562Q	CDH11_ENST00000268603.4_Missense_Mutation_p.R562Q|CDH11_ENST00000566827.1_Missense_Mutation_p.R436Q			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	562	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CTGCTTCTGCCGACTGAACCC	0.597			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			4	54					0	0	1	0	0	T	64984879	C	T	64984879	3	4	181	1	0	0	0	0	1	0	0	0	3119	652	23	1	713	1	CDH11	16	64984879	Missense_Mutation	SNP	C	TCGA-HC-7747-01A-11D-2114-08	6547661	64984879	25369874	55	8431											
MYO15A	51168	broad.mit.edu	37	chr17	18023207	18023207	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcccataccacactccctacGatgtaccctactttgatccc	9	11	3	18	1	0	1	0	1	0	0	3	2	3	1	5	0	4	1	5	0	4	5			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr17:18023207G>A	ENST00000205890.5	+	2	1431	c.1093G>A	c.(1093-1095)Gat>Aat	p.D365N		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	365	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CACTCCCTACGATGTACCCTA	0.617													6	175					0	0	1	0	0	A	18023207	G	A	18023207	3	1	181	1	0	0	0	0	1	0	0	0	10111	1058	37	1	1095	1	MYO15A	17	18023207	Missense_Mutation	SNP	G	TCGA-HC-7747-01A-11D-2114-08		18023207	63172003	56	8432											
TOP2A	7153	broad.mit.edu	37	chr17	38567942	38567942	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagctaatttgctgaaagccTttttcactcatagttaaaca	14	14	5	8	0	2	1	2	1	0	0	2	1	2	1	1	0	4	3	1	0	6	6			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr17:38567942T>C	ENST00000423485.1	-	8	1076	c.918A>G	c.(916-918)aaA>aaG	p.K306K		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	306					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	GCTGAAAGCCTTTTTCACTCA	0.318													3	77					0	0	1	0	0	C	38567942	T	C	38567942	2	2	181	1	0	0	0	0	0	0	0	1	16426	1606	56	3		3	TOP2A	17	38567942	Silent	SNP	T	TCGA-HC-7747-01A-11D-2114-08	20544735	38567942	42627268	57	8433											
MRPS23	51649	broad.mit.edu	37	chr17	55917219	55917219	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggaacttctttctgagtCtcgttttcttccaacgcagt	6	17	8	10	2	4	1	0	1	4	0	6	2	5	2	1	1	2	2	1	1	2	5			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr17:55917219C>A	ENST00000313608.8	-	5	543	c.498G>T	c.(496-498)gaG>gaT	p.E166D		NM_016070.3	NP_057154.2	Q9Y3D9	RT23_HUMAN	mitochondrial ribosomal protein S23	166					translation	intermediate filament cytoskeleton|mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome			endometrium(2)|large_intestine(1)|lung(2)	5	Breast(9;8.75e-08)					CTTTCTGAGTCTCGTTTTCTT	0.488													5	74					0.000602214	0.000656961	1	1	0	A	55917219	C	A	55917219	3	1	181	1	0	0	0	0	1	0	0	0	9883	912	32	4	78	4	MRPS23	17	55917219	Missense_Mutation	SNP	C	TCGA-HC-7747-01A-11D-2114-08	17349277	55917219	25277991	58	8434											
ESCO1	114799	broad.mit.edu	37	chr18	19153550	19153550	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtggtgaaaaactggttcGtaataagcctaatttagggg	12	12	13	4	1	0	1	0	1	0	0	1	1	0	1	1	5	2	2	1	5	6	6			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr18:19153550G>A	ENST00000269214.5	-	4	2192	c.1255C>T	c.(1255-1257)Cga>Tga	p.R419*		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	419					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						AAACTGGTTCGTAATAAGCCT	0.373													5	192					0	0	1	0	0	A	19153550	G	A	19153550	4	1	181	1	0	0	0	0	0	1	0	0	5276	1153	40	1	1303	1	ESCO1	18	19153550	Nonsense_Mutation	SNP	G	TCGA-HC-7747-01A-11D-2114-08		19153550	58923698	59	8435											
TCF3	6929	broad.mit.edu	37	chr19	1615477	1615477	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctccttctcccgctcggcCttctgctctggggggagaag	3	10	13	15	3	3	1	0	0	3	1	6	2	4	1	3	4	1	3	3	4	1	2	rs1052738		TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr19:1615477C>T	ENST00000262965.5	-	18	1973	c.1629G>A	c.(1627-1629)aaG>aaA	p.K543K	TCF3_ENST00000453954.2_Intron|TCF3_ENST00000588136.1_Intron|TCF3_ENST00000395423.3_Silent_p.K547K|TCF3_ENST00000344749.5_Intron	NM_003200.3	NP_003191.1	P15923	TFE2_HUMAN	transcription factor 3	543					B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCGCTCGGCCTTCTGCTCTG	0.687			T	"PBX1, HLF, TFPT"	pre B-ALL								28	73					0	0	1	0	0	T	1615477	C	T	1615477	2	4	181	1	0	0	0	0	0	0	0	1	15754	680	24	2		2	TCF3	19	1615477	Silent	SNP	C	TCGA-HC-7747-01A-11D-2114-08		1615477	57513506	60	8436											
SF3A2	8175	broad.mit.edu	37	chr19	2248332	2248332	+	Frame_Shift_Del	DEL	C	C	-																															cctcaggccccaggggtgcaCccaccagccccagggatgca																										TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr19:2248332delC	ENST00000221494.4	+	9	1600	c.1182delC	c.(1180-1182)cafs	p.H394fs		NM_007165.4	NP_009096.2	Q15428	SF3A2_HUMAN	splicing factor 3a, subunit 2, 66kDa	394	Pro-rich.				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|zinc ion binding			NS(1)|large_intestine(1)|lung(2)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGGGTGCACCCACCAGCCC	0.756													2	4	---	---	---	---						-	2248332	C	-	2248332	7	5	181	1	0	1	0	1	0	0	0	0	14201	506	18	0	1212	0	SF3A2	19	2248332	Frame_Shift_Del	DEL	C	TCGA-HC-7747-01A-11D-2114-08	632855	2248332	56880651	61	8437											
ZNF709	163051	broad.mit.edu	37	chr19	12575380	12575380	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caactgaaggctttaccacaCtgtttacattcatagggttt	11	14	7	9	0	1	1	1	1	0	0	1	1	1	1	1	2	3	3	1	2	5	7			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	8e4f9702-4f15-422a-8e25-b973bd31e6da	g.chr19:12575380C>T	ENST00000397732.3	-	4	1527	c.1356G>A	c.(1354-1356)caG>caA	p.Q452Q	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Silent_p.Q452Q	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	452					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						CTTTACCACACTGTTTACATT	0.403													6	183					0	0	1	0	0	T	12575380	C	T	12575380	2	4	181	1	0	0	0	0	0	0	0	1	18169	564	20	2		2	ZNF709	19	12575380	Silent	SNP	C	TCGA-HC-7747-01A-11D-2114-08	10327048	12575380	46553603	62	8438											
CYP4F8	11283	broad.mit.edu	37	chr19	15739644	15739644	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttttattcctttctcggCggggcccaggtgaggccagg	4	11	15	11	2	1	1	0	1	1	0	3	1	2	1	3	7	0	1	3	7	1	4			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr19:15739644C>T	ENST00000441682.2	+	0	1449							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						CCTTTCTCGGCGGGGCCCAGG	0.587													6	70					0	0	1	0	0	T	15739644	C	T	15739644	1	4	181	0	1	0	0	0	0	0	0	0	4214	768	27	1		1	CYP4F8	19	15739644	RNA	SNP	C	TCGA-HC-7747-01A-11D-2114-08	3164264	15739644	43389339	63	8439											
OR10H4	126541	broad.mit.edu	37	chr19	16060516	16060516	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttgaggattccctctgcCgaaggccggcacaagacatt	10	9	10	12	2	2	2	0	1	2	1	3	4	3	3	3	3	1	1	3	3	2	3			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr19:16060516C>T	ENST00000322107.1	+	1	699	c.699C>T	c.(697-699)gcC>gcT	p.A233A		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						TTCCCTCTGCCGAAGGCCGGC	0.512													5	171					0	0	1	0	0	T	16060516	C	T	16060516	2	4	181	1	0	0	0	0	0	0	0	1	10956	639	23	1		1	OR10H4	19	16060516	Silent	SNP	C	TCGA-HC-7747-01A-11D-2114-08	320872	16060516	43068467	64	8440											
ZNF536	9745	broad.mit.edu	37	chr19	30936378	30936378	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaccgagtgccccgactgcGgccgggtgttccgcacttac	5	7	12	17	5	0	0	0	0	0	0	1	2	1	0	6	2	3	2	6	2	1	2			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr19:30936378G>A	ENST00000355537.3	+	2	2056	c.1909G>A	c.(1909-1911)Ggc>Agc	p.G637S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	637					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.G637S(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCCCGACTGCGGCCGGGTGTT	0.622													4	173					0	0	1	0	0	A	30936378	G	A	30936378	3	1	181	1	0	0	0	0	1	0	0	0	18031	1116	39	1	1911	1	ZNF536	19	30936378	Missense_Mutation	SNP	G	TCGA-HC-7747-01A-11D-2114-08	14875862	30936378	28192605	65	8441											
CATSPERG	57828	broad.mit.edu	37	chr19	38858384	38858384	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaaggactacagtgaggaCgaaatctaccgcttcaacag	14	7	9	11	2	3	1	2	1	1	0	3	4	3	3	1	2	3	1	1	2	5	3	rs2302184		TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr19:38858384C>T	ENST00000409235.3	+	25	3013	c.2898C>T	c.(2896-2898)gaC>gaT	p.D966D	CATSPERG_ENST00000410018.1_Silent_p.D926D|CATSPERG_ENST00000215069.4_3'UTR	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	966					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						ACAGTGAGGACGAAATCTACC	0.597													27	388					0	0	1	0	0	T	38858384	C	T	38858384	2	4	181	1	0	0	0	0	0	0	0	1	2710	535	19	1		1	CATSPERG	19	38858384	Silent	SNP	C	TCGA-HC-7747-01A-11D-2114-08	7922006	38858384	20270599	66	8442											
CNTD2	79935	broad.mit.edu	37	chr19	40730407	40730407	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaagtacctcgggaagcacGcactcttccattttgcacgc	9	9	10	13	3	1	0	0	0	1	0	3	2	2	2	2	2	3	4	2	2	3	4			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr19:40730407G>A	ENST00000430325.2	-	3	549	c.501C>T	c.(499-501)tgC>tgT	p.C167C	CNTD2_ENST00000433940.1_Silent_p.C137C|CNTD2_ENST00000513948.1_Silent_p.C61C	NM_024877.3	NP_079153.2	B4DX65	B4DX65_HUMAN	cyclin N-terminal domain containing 2	167					regulation of cyclin-dependent protein kinase activity		protein kinase binding			lung(1)|prostate(1)	2						CGGGAAGCACGCACTCTTCCA	0.592													9	486					0	0	1	0	0	A	40730407	G	A	40730407	2	1	181	1	0	0	0	0	0	0	0	1	3659	1079	38	1		1	CNTD2	19	40730407	Silent	SNP	G	TCGA-HC-7747-01A-11D-2114-08	1872023	40730407	18398576	67	8443											
CEACAM1	634	broad.mit.edu	37	chr19	43026110	43026110	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgactgggtcactgcggttCgcactcactgggttctgtat	5	13	13	10	2	3	1	2	1	1	0	4	1	3	1	0	3	1	4	0	3	1	3	rs143281867		TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr19:43026110C>T	ENST00000161559.6	-	3	803	c.669G>A	c.(667-669)gcG>gcA	p.A223A	CEACAM1_ENST00000403444.3_Silent_p.A223A|CEACAM1_ENST00000308072.4_Silent_p.A183A|CEACAM1_ENST00000599389.1_Silent_p.A223A|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000403461.1_Silent_p.A223A|LIPE-AS1_ENST00000594688.1_RNA|CEACAM1_ENST00000358394.3_Silent_p.A223A|CEACAM1_ENST00000351134.3_Intron|CEACAM1_ENST00000352591.5_Silent_p.A223A	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	223	Ig-like C2-type 1.				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	CACTGCGGTTCGCACTCACTG	0.557													5	189					0	0	1	0	0	T	43026110	C	T	43026110	2	4	181	1	0	0	0	0	0	0	0	1	3209	871	31	1		1	CEACAM1	19	43026110	Silent	SNP	C	TCGA-HC-7747-01A-11D-2114-08	2295703	43026110	16102873	68	8444											
MKL1	57591	broad.mit.edu	37	chr22	40816901	40816901	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgtggtgctgctgctgctgCtggttgaggatctgcagctg	3	14	16	8	0	1	1	0	1	1	0	1	2	1	2	0	3	7	8	0	3	0	2			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chr22:40816901C>G	ENST00000396617.3	-	10	1421	c.831G>C	c.(829-831)caG>caC	p.Q277H	MKL1_ENST00000407029.1_Missense_Mutation_p.Q277H|MKL1_ENST00000355630.3_Missense_Mutation_p.Q277H|MKL1_ENST00000402042.1_Missense_Mutation_p.Q227H			Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	277	Gln-rich.				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GCTGCTGCTGCTGGTTGAGGA	0.657			T	RBM15	acute megakaryocytic leukemia								3	62					0	0	1	0	0	G	40816901	C	G	40816901	3	3	181	1	0	0	0	0	1	0	0	0	9649	796	28	4	1988	4	MKL1	22	40816901	Missense_Mutation	SNP	C	TCGA-HC-7747-01A-11D-2114-08		40816901	10487665	69	8445											
NHS	4810	broad.mit.edu	37	chrX	17744786	17744786	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaagccgaccccacctaaaCgtagctcatcattgaggaag	14	6	8	13	2	2	1	2	1	0	0	2	3	2	2	4	1	3	2	4	1	5	3			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chrX:17744786C>T	ENST00000380060.3	+	6	2835	c.2497C>T	c.(2497-2499)Cgt>Tgt	p.R833C	NHS_ENST00000398097.3_Missense_Mutation_p.R677C	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	833						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CCCACCTAAACGTAGCTCATC	0.488													4	78					0	0	1	0	0	T	17744786	C	T	17744786	3	4	181	1	0	0	0	0	1	0	0	0	10458	536	19	1	2624	1	NHS	23	17744786	Missense_Mutation	SNP	C	TCGA-HC-7747-01A-11D-2114-08		17744786	137525774	70	8446											
FAM199X	139231	broad.mit.edu	37	chrX	103432835	103432835	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcggtgccagtgccagcGccagcagcagcagtgccagc	8	4	15	14	2	0	1	0	1	0	0	0	1	0	1	4	1	9	3	4	1	0	0			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chrX:103432835G>A	ENST00000493442.1	+	5	1010	c.844G>A	c.(844-846)Gcc>Acc	p.A282T	FAM199X_ENST00000299906.5_3'UTR	NM_207318.3	NP_997201.1	Q6PEV8	F199X_HUMAN	family with sequence similarity 199, X-linked	282	Ser-rich.									breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						CAGTGCCAGCGCCAGCAGCAG	0.567													4	76					0	0	1	0	0	A	103432835	G	A	103432835	3	1	181	1	0	0	0	0	1	0	0	0	5562	1087	38	1	862	1	FAM199X	23	103432835	Missense_Mutation	SNP	G	TCGA-HC-7747-01A-11D-2114-08	85688049	103432835	51837725	71	8447											
GPR119	139760	broad.mit.edu	37	chrX	129519055	129519055	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcccggcaatgcaggcccCggccacgaacccactcatga	10	3	10	18	3	1	1	1	1	0	0	1	2	1	1	5	3	3	2	5	3	2	0			TCGA-HC-7747-01A-11D-2114-08	TCGA-HC-7747-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85714546-69c0-468e-b38a-3e0e886d44c7	67cdd8c3-0dbd-4b0d-87c3-49c9e86c24f6	g.chrX:129519055C>T	ENST00000276218.2	-	1	456	c.367G>A	c.(367-369)Ggg>Agg	p.G123R		NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	123						integral to membrane|plasma membrane	lipid binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						ATGCAGGCCCCGGCCACGAAC	0.567													4	86					0	0	1	0	0	T	129519055	C	T	129519055	3	4	181	1	0	0	0	0	1	0	0	0	6674	652	23	1	644	1	GPR119	23	129519055	Missense_Mutation	SNP	C	TCGA-HC-7747-01A-11D-2114-08	26086220	129519055	25751505	72	8448											
NADK	65220	broad.mit.edu	37	chr1	1688592	1688592	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaactccatgtgcaccccAggcccccttcccccctgccc	5	6	5	25	0	0	0	0	0	0	0	2	0	2	0	10	1	3	1	10	1	1	1			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr1:1688592A>C	ENST00000344463.4	-	6	954	c.733T>G	c.(733-735)Tgg>Ggg	p.W245G	NADK_ENST00000342348.5_Intron|NADK_ENST00000492768.1_Intron|NADK_ENST00000378625.1_Missense_Mutation_p.W245G|NADK_ENST00000341991.3_Intron|NADK_ENST00000341426.5_Intron			O95544	NADK_HUMAN	NAD kinase	131					ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		TGTGCACCCCAGGCCCCCTTC	0.627													4	5					0	0	0.014758	0	0	C	1688592	A	C	1688592	3	2	182	1	0	0	0	0	1	0	0	0	10185	203	7	5		5	NADK	1	1688592	Missense_Mutation	SNP	A	TCGA-HC-7748-01A-11D-2114-08		1688592	247562029	1	8449											
MED8	112950	broad.mit.edu	37	chr1	43852653	43852653	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catggctgaaaacaggcaccCgtccttcagtctgccgctgt	8	9	10	14	2	2	1	1	1	1	0	3	1	3	1	3	2	2	3	3	2	2	1			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr1:43852653C>T	ENST00000372457.4	-	4	330	c.287G>A	c.(286-288)cGg>cAg	p.R96Q	MED8_ENST00000290663.6_Missense_Mutation_p.R96Q|MED8_ENST00000372455.4_Missense_Mutation_p.R7Q|RP1-92O14.6_ENST00000436713.1_RNA	NM_001001653.2|NM_201542.3	NP_001001653.1|NP_963836.2	Q96G25	MED8_HUMAN	mediator complex subunit 8	96					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.R7L(1)|p.R96L(1)		endometrium(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	9	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AACAGGCACCCGTCCTTCAGT	0.498													6	128					0	0	0.021553	0	0	T	43852653	C	T	43852653	3	4	182	1	0	0	0	0	1	0	0	0	9503	652	23	1	642	1	MED8	1	43852653	Missense_Mutation	SNP	C	TCGA-HC-7748-01A-11D-2114-08	42164061	43852653	205397968	2	8450											
STIL	6491	broad.mit.edu	37	chr1	47717391	47717391	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtattaatatggagaaggCtgaatgggtcacaattattt	13	14	10	4	0	1	2	1	1	0	1	1	3	1	2	0	3	0	2	0	3	7	5			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr1:47717391C>A	ENST00000360380.3	-	18	3644	c.3281G>T	c.(3280-3282)aGc>aTc	p.S1094I	STIL_ENST00000243182.6_Missense_Mutation_p.S1094I|STIL_ENST00000337817.5_Missense_Mutation_p.S1094I|STIL_ENST00000396221.2_Missense_Mutation_p.S1077I|STIL_ENST00000371877.3_Missense_Mutation_p.S1095I			Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	1094					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				ATGGAGAAGGCTGAATGGGTC	0.368													9	209					0.00621372	0.0067786	0.058154	1	0	A	47717391	C	A	47717391	3	1	182	1	0	0	0	0	1	0	0	0	15338	797	28	4	586	4	STIL	1	47717391	Missense_Mutation	SNP	C	TCGA-HC-7748-01A-11D-2114-08	3864738	47717391	201533230	3	8451											
RPAP2	79871	broad.mit.edu	37	chr1	92789789	92789789	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atgagtctttaccttttaggGgctcaggtacagccattaaa	11	13	9	8	0	2	1	1	1	1	0	2	1	2	1	2	3	3	2	2	3	5	6			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr1:92789789G>C	ENST00000370343.3	+	8	1421	c.1312G>C	c.(1312-1314)Ggc>Cgc	p.G438R		NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	438						integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		ACCTTTTAGGGGCTCAGGTAC	0.413													23	74					0	0	0.062417	0	0	C	92789789	G	C	92789789	3	2	182	1	0	0	0	0	1	0	0	0	13594	1232	43	4	1342	4	RPAP2	1	92789789	Missense_Mutation	SNP	G	TCGA-HC-7748-01A-11D-2114-08	45072398	92789789	156460832	4	8452											
CACNA1E	777	broad.mit.edu	37	chr1	181702058	181702058	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaggtctgccagccaggaaCgcagtctggatgaagccatg	10	6	14	11	1	2	1	0	1	2	0	2	3	2	3	3	3	4	2	3	3	2	0			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr1:181702058C>T	ENST00000526775.1	+	19	2944	c.2779C>T	c.(2779-2781)Cgc>Tgc	p.R927C	CACNA1E_ENST00000360108.3_Missense_Mutation_p.R927C|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R946C|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R878C|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R897C|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R553C|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R946C	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	946					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CAGCCAGGAACGCAGTCTGGA	0.627													25	99					0	0	0.083992	0	0	T	181702058	C	T	181702058	3	4	182	1	0	0	0	0	1	0	0	0	2560	536	19	1	2914	1	CACNA1E	1	181702058	Missense_Mutation	SNP	C	TCGA-HC-7748-01A-11D-2114-08	88912269	181702058	67548563	5	8453											
PPIG	9360	broad.mit.edu	37	chr2	170493058	170493058	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagaaagttaaagaccataaAtctaacagcaaagagagaga	23	5	8	5	0	1	4	0	0	1	4	1	6	1	4	1	0	2	2	1	0	8	3			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr2:170493058A>G	ENST00000260970.3	+	14	1510	c.1290A>G	c.(1288-1290)aaA>aaG	p.K430K	PPIG_ENST00000409714.3_Silent_p.K415K|PPIG_ENST00000448752.2_Silent_p.K430K|PPIG_ENST00000482772.1_3'UTR	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	430					protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	AAGACCATAAATCTAACAGCA	0.328													11	32					0	0	0.09319	0	0	G	170493058	A	G	170493058	2	3	182	1	0	0	0	0	0	0	0	1	12373	98	4	3		3	PPIG	2	170493058	Silent	SNP	A	TCGA-HC-7748-01A-11D-2114-08		170493058	72706315	6	8454											
NRP2	8828	broad.mit.edu	37	chr2	206641226	206641226	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accctaaccattaagctagaGcaagaccgtggctcgcactg	12	7	9	13	2	0	2	0	0	0	2	1	2	0	2	3	1	3	4	3	1	4	3			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr2:206641226G>A	ENST00000357118.4	+	16	2713	c.2682G>A	c.(2680-2682)gaG>gaA	p.E894E	NRP2_ENST00000412873.2_Intron|NRP2_ENST00000357785.5_Intron|NRP2_ENST00000272849.3_Silent_p.E899E|NRP2_ENST00000540841.1_Intron|NRP2_ENST00000360409.3_Intron|NRP2_ENST00000540178.1_Intron	NM_201267.1	NP_957719.1	O60462	NRP2_HUMAN	neuropilin 2	0					angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						TTAAGCTAGAGCAAGACCGTG	0.532											OREG0015157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	117					0	0	0.069234	0	0	A	206641226	G	A	206641226	2	1	182	1	0	0	0	0	0	0	0	1	10709	962	34	2		2	NRP2	2	206641226	Silent	SNP	G	TCGA-HC-7748-01A-11D-2114-08	36148168	206641226	36558147	7	8455											
ZNF502	91392	broad.mit.edu	37	chr3	44762640	44762640	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagaaaagcttgcttttgAcctcaagccttgttacacgt	10	14	8	9	1	1	2	1	2	0	1	1	3	1	2	2	0	4	3	2	0	4	6			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr3:44762640A>G	ENST00000296091.4	+	4	587	c.331A>G	c.(331-333)Acc>Gcc	p.T111A	ZNF502_ENST00000436624.2_Missense_Mutation_p.T111A|ZNF502_ENST00000449836.1_Missense_Mutation_p.T111A	NM_001134440.1|NM_033210.4	NP_001127912.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	111					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		CTTGCTTTTGACCTCAAGCCT	0.383													7	92					0	0	0.038147	0	0	G	44762640	A	G	44762640	3	3	182	1	0	0	0	0	1	0	0	0	18007	275	10	3	337	3	ZNF502	3	44762640	Missense_Mutation	SNP	A	TCGA-HC-7748-01A-11D-2114-08		44762640	153259790	8	8456											
CNGA1	1259	broad.mit.edu	37	chr4	47938768	47938768	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tactcagttagagcttccatGaggtcatcttttgagagaca	11	13	9	8	0	3	4	2	2	1	2	4	5	4	4	1	1	2	2	1	1	2	5			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr4:47938768G>C	ENST00000402813.3	-	10	2092	c.1950C>G	c.(1948-1950)ctC>ctG	p.L650L	CNGA1_ENST00000358519.4_Silent_p.L581L|CNGA1_ENST00000514170.1_Silent_p.L581L|CNGA1_ENST00000420489.2_Silent_p.L581L|CNGA1_ENST00000544810.1_Silent_p.L581L			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	581					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						GAGCTTCCATGAGGTCATCTT	0.408													56	161					0	0	0.139131	0	0	C	47938768	G	C	47938768	2	2	182	1	0	0	0	0	0	0	0	1	3619	1277	45	4		4	CNGA1	4	47938768	Silent	SNP	G	TCGA-HC-7748-01A-11D-2114-08		47938768	143215508	9	8457											
LPHN3	23284	broad.mit.edu	37	chr4	62903460	62903460	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attggctaggtacgaaaagaGtatgggaaatgcctgcgaac	14	8	13	6	2	0	1	0	0	0	1	0	4	0	2	1	3	4	3	1	3	7	4			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr4:62903460G>A	ENST00000512091.1	+	23	4146	c.3399G>A	c.(3397-3399)gaG>gaA	p.E1133E	LPHN3_ENST00000508693.1_Silent_p.E1201E|LPHN3_ENST00000514591.1_Silent_p.E1133E|LPHN3_ENST00000509896.1_Silent_p.E1201E|LPHN3_ENST00000514157.1_Silent_p.E1124E|LPHN3_ENST00000506746.1_Silent_p.E1192E|LPHN3_ENST00000506700.1_Silent_p.E1124E|LPHN3_ENST00000507164.1_Silent_p.E1192E|LPHN3_ENST00000507625.1_Silent_p.E1192E|LPHN3_ENST00000511324.1_Silent_p.E1192E|LPHN3_ENST00000514996.1_Silent_p.E1124E|LPHN3_ENST00000545650.1_Silent_p.E1133E|LPHN3_ENST00000508946.1_Silent_p.E1133E|LPHN3_ENST00000506720.1_Silent_p.E1201E|LPHN3_ENST00000504896.1_Silent_p.E1133E			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1111					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TACGAAAAGAGTATGGGAAAT	0.388													5	64					0	0	0.014758	0	0	A	62903460	G	A	62903460	2	1	182	1	0	0	0	0	0	0	0	1	8962	1020	36	2		2	LPHN3	4	62903460	Silent	SNP	G	TCGA-HC-7748-01A-11D-2114-08	14964692	62903460	128250816	10	8458											
ADAMTS16	170690	broad.mit.edu	37	chr5	5190127	5190127	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcagaccacaccttaagtaGcttctgccagtggcagtctg	9	9	10	13	1	2	1	0	0	2	1	2	1	2	1	3	1	2	4	3	1	2	3			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr5:5190127G>A	ENST00000274181.7	+	7	1229	c.1091G>A	c.(1090-1092)aGc>aAc	p.S364N	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.S364N	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	364	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						ACCTTAAGTAGCTTCTGCCAG	0.483													20	79					0	0	0.043863	0	0	A	5190127	G	A	5190127	3	1	182	1	0	0	0	0	1	0	0	0	260	971	34	2	1117	2	ADAMTS16	5	5190127	Missense_Mutation	SNP	G	TCGA-HC-7748-01A-11D-2114-08		5190127	175725133	11	8459											
FAM105A	54491	broad.mit.edu	37	chr5	14601484	14601487	+	Frame_Shift_Del	DEL	TTGA	TTGA	-																															cctcagtgtggaggcagaggTtgatttactcagttattgtg																										TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr5:14601484_14601487delTTGA	ENST00000274217.3	+	4	401_404	c.281_284delTTGA	c.(280-285)gtfs	p.VD94fs		NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A	94										large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					GAGGCAGAGGTTGATTTACTCAGT	0.426													11	59	---	---	---	---						-	14601487	TTGA	-	14601484	7	5	182	1	0	1	0	1	0	0	0	0	5418	1725	60	0	295	0	FAM105A	5	14601484	Frame_Shift_Del	DEL	TTGA	TCGA-HC-7748-01A-11D-2114-08	9411357	14601484	166313776	12	8460											
UBD	10537	broad.mit.edu	37	chr6	29523919	29523919	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catcactgggcttcaccactTtcagggtaaggtggatggtc	8	11	12	10	0	3	0	3	0	0	0	4	1	3	1	1	5	0	2	1	5	1	3			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr6:29523919T>C	ENST00000377050.4	-	2	459	c.236A>G	c.(235-237)aAa>aGa	p.K79R	GABBR1_ENST00000355973.3_3'UTR	NM_006398.3	NP_006389.2	O15205	UBD_HUMAN	ubiquitin D	79	Ubiquitin 1.				aggresome assembly|myeloid dendritic cell differentiation|negative regulation of mitotic prometaphase|positive regulation of apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	aggresome|cytoplasm|nucleus	proteasome binding			kidney(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						CTTCACCACTTTCAGGGTAAG	0.527													13	41					0	0	0.11911	0	0	C	29523919	T	C	29523919	3	2	182	1	0	0	0	0	1	0	0	0	16904	1841	64	3	265	3	UBD	6	29523919	Missense_Mutation	SNP	T	TCGA-HC-7748-01A-11D-2114-08		29523919	141591148	13	8461											
EPB41L2	2037	broad.mit.edu	37	chr6	131216167	131216167	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taggaaatttttaagattttCggccaagcaaaacgattgat	15	13	8	5	2	0	2	0	1	0	1	1	4	0	3	1	2	2	1	1	2	6	7			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr6:131216167C>T	ENST00000337057.3	-	9	1510	c.1329G>A	c.(1327-1329)ccG>ccA	p.P443P	EPB41L2_ENST00000368128.2_Silent_p.P443P|EPB41L2_ENST00000392427.3_Silent_p.P443P|EPB41L2_ENST00000525271.1_Silent_p.P443P|EPB41L2_ENST00000527411.1_Silent_p.P443P|EPB41L2_ENST00000530481.1_Silent_p.P443P|EPB41L2_ENST00000525193.1_Silent_p.P443P|EPB41L2_ENST00000529208.1_Silent_p.P443P|EPB41L2_ENST00000528282.1_Silent_p.P443P|EPB41L2_ENST00000445890.2_Silent_p.P443P|EPB41L2_ENST00000527659.1_Silent_p.P443P	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	443	FERM.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TTAAGATTTTCGGCCAAGCAA	0.433													24	69					0	0	0.083992	0	0	T	131216167	C	T	131216167	2	4	182	1	0	0	0	0	0	0	0	1	5181	871	31	1		1	EPB41L2	6	131216167	Silent	SNP	C	TCGA-HC-7748-01A-11D-2114-08	101692248	131216167	39898900	14	8462											
TRIM4	89122	broad.mit.edu	37	chr7	99506411	99506411	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaactccgtgctgattcTcattcgctgactctttatct	8	16	6	11	2	3	3	1	3	3	0	6	3	4	3	1	0	2	2	1	0	3	4			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr7:99506411T>C	ENST00000355947.2	-	4	721	c.592A>G	c.(592-594)Aga>Gga	p.R198G	TRIM4_ENST00000349062.2_Missense_Mutation_p.R172G|TRIM4_ENST00000354241.5_Missense_Mutation_p.R172G	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN	tripartite motif containing 4	198					protein trimerization	cytoplasm|plasma membrane	zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				GTGCTGATTCTCATTCGCTGA	0.428													32	93					0	0	0.054565	0	0	C	99506411	T	C	99506411	3	2	182	1	0	0	0	0	1	0	0	0	16575	1559	54	3	926	3	TRIM4	7	99506411	Missense_Mutation	SNP	T	TCGA-HC-7748-01A-11D-2114-08		99506411	59632252	15	8463											
RP1L1	94137	broad.mit.edu	37	chr8	10468680	10468680	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcacctgtggtctcgtcCgccaactcatatgtcatgag	7	11	10	13	2	3	1	2	1	1	0	5	1	4	1	3	1	2	2	3	1	2	1			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr8:10468680C>T	ENST00000382483.3	-	4	3151	c.2928G>A	c.(2926-2928)gcG>gcA	p.A976A		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	976					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TGGTCTCGTCCGCCAACTCAT	0.632													28	140					0	0	0.045705	0	0	T	10468680	C	T	10468680	2	4	182	1	0	0	0	0	0	0	0	1	13585	639	23	1		1	RP1L1	8	10468680	Silent	SNP	C	TCGA-HC-7748-01A-11D-2114-08		10468680	135895342	16	8464											
XKR4	114786	broad.mit.edu	37	chr8	56436598	56436598	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccatcatctcgcccaccaCggattgaagaatcagtcatt	11	9	6	15	2	4	2	3	1	1	1	5	3	4	3	4	1	0	0	4	1	2	2			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr8:56436598C>T	ENST00000327381.5	+	3	1865	c.1765C>T	c.(1765-1767)Cgg>Tgg	p.R589W		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	589						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TCGCCCACCACGGATTGAAGA	0.512													30	75					0	0	0.125774	0	0	T	56436598	C	T	56436598	3	4	182	1	0	0	0	0	1	0	0	0	17493	527	19	1	1775	1	XKR4	8	56436598	Missense_Mutation	SNP	C	TCGA-HC-7748-01A-11D-2114-08	45967918	56436598	89927424	17	8465											
CA3	761	broad.mit.edu	37	chr8	86352079	86352079	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgatggtggctctgccaagaCcatcctgaataatgggaaga	12	9	12	8	0	1	4	0	2	1	2	2	5	2	5	3	3	1	1	3	3	4	1			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr8:86352079C>A	ENST00000285381.2	+	2	256	c.173C>A	c.(172-174)aCc>aAc	p.T58N		NM_005181.3	NP_005172.1	P07451	CAH3_HUMAN	carbonic anhydrase III, muscle specific	58					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						TCTGCCAAGACCATCCTGAAT	0.453													5	73					0.00116845	0.00130431	0.021553	1	0	A	86352079	C	A	86352079	3	1	182	1	0	0	0	0	1	0	0	0	2535	507	18	4	179	4	CA3	8	86352079	Missense_Mutation	SNP	C	TCGA-HC-7748-01A-11D-2114-08	29915481	86352079	60011943	18	8466											
PAPPA	5069	broad.mit.edu	37	chr9	119109476	119109476	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttccagtgccgtcaccctGcacaattgaaaggtatcaag	11	9	8	13	1	2	1	2	1	0	0	3	1	3	1	4	1	2	2	4	1	4	3			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr9:119109476G>T	ENST00000328252.3	+	15	4321	c.3952G>T	c.(3952-3954)Gca>Tca	p.A1318S	PAPPA_ENST00000534838.1_Missense_Mutation_p.A356S	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1318	Sushi 2.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CCGTCACCCTGCACAATTGAA	0.537													5	59					0.000602214	0.000688245	0.014758	1	0	T	119109476	G	T	119109476	3	4	182	1	0	0	0	0	1	0	0	0	11479	1319	46	4	4010	4	PAPPA	9	119109476	Missense_Mutation	SNP	G	TCGA-HC-7748-01A-11D-2114-08		119109476	22103955	19	8467											
NTM	50863	broad.mit.edu	37	chr11	132177583	132177583	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgttaccggttttcccgcagCggttggctttgtgagtgaag	5	13	14	9	4	0	2	0	2	0	0	1	2	1	2	2	3	2	5	2	3	2	5			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr11:132177583C>T	ENST00000374786.1	+	4	1006	c.526_splice	c.e4-1	p.A176_splice	NTM_ENST00000374784.1_Splice_Site_p.A176_splice|NTM_ENST00000427481.2_Splice_Site_p.A167_splice|NTM_ENST00000374791.3_Splice_Site_p.A176_splice|NTM_ENST00000539799.1_Splice_Site_p.A176_splice|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000425719.2_Splice_Site_p.A176_splice	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	176	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						TTTCCCGCAGCGGTTGGCTTT	0.463													10	58					0	0	0.069234	0	0	T	132177583	C	T	132177583	5	4	182	1	0	0	0	0	0	0	1	0	10747	782	27	1	627	1	NTM	11	132177583	Splice_Site	SNP	C	TCGA-HC-7748-01A-11D-2114-08		132177583	2828933	20	8468											
FOXJ2	55810	broad.mit.edu	37	chr12	8197495	8197495	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caactttcaggatctaagctGgtccttccgcaacctctata	10	12	6	13	1	3	0	1	0	2	0	5	1	5	1	3	2	3	2	3	2	5	5			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr12:8197495G>C	ENST00000162391.3	+	6	1903	c.758G>C	c.(757-759)tGg>tCg	p.W253S	FOXJ2_ENST00000428177.2_Missense_Mutation_p.W253S	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	253					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		GATCTAAGCTGGTCCTTCCGC	0.502													40	156					0	0	0.11126	0	0	C	8197495	G	C	8197495	3	2	182	1	0	0	0	0	1	0	0	0	6046	1357	47	4	776	4	FOXJ2	12	8197495	Missense_Mutation	SNP	G	TCGA-HC-7748-01A-11D-2114-08		8197495	125654400	21	8469											
CLEC4A	50856	broad.mit.edu	37	chr12	8290795	8290795	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcgttgtgctaaattttcGtaaatcacccaaaagatggg	12	12	9	8	2	1	1	1	0	0	1	2	1	1	1	1	1	2	3	1	1	6	5			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr12:8290795G>A	ENST00000229332.5	+	6	873	c.626G>A	c.(625-627)cGt>cAt	p.R209H	CLEC4A_ENST00000360500.3_Missense_Mutation_p.R170H|CLEC4A_ENST00000352620.3_Missense_Mutation_p.R176H|CLEC4A_ENST00000345999.3_Missense_Mutation_p.R137H	NM_016184.3|NM_194447.2|NM_194450.2	NP_057268.1|NP_919429.2|NP_919432.1	Q9UMR7	CLC4A_HUMAN	C-type lectin domain family 4, member A	209	C-type lectin.				cell adhesion|cell surface receptor linked signaling pathway|innate immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)	11				Kidney(36;0.0915)		CTAAATTTTCGTAAATCACCC	0.433													7	99					0	0	0.02938	0	0	A	8290795	G	A	8290795	3	1	182	1	0	0	0	0	1	0	0	0	3535	1145	40	1	648	1	CLEC4A	12	8290795	Missense_Mutation	SNP	G	TCGA-HC-7748-01A-11D-2114-08	93300	8290795	125561100	22	8470											
KSR2	283455	broad.mit.edu	37	chr12	117969491	117969491	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgggaagatgaactgctgcTtgtatttgtagtagtgggat	9	14	14	4	0	0	2	0	1	0	1	0	4	0	4	0	2	3	5	0	2	5	5			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr12:117969491T>G	ENST00000425217.1	-	11	1676	c.1622A>C	c.(1621-1623)aAg>aCg	p.K541T	KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000302438.5_Missense_Mutation_p.K267T|KSR2_ENST00000339824.5_Missense_Mutation_p.K570T	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	570	Pro-rich.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GAACTGCTGCTTGTATTTGTA	0.502													3	48					0	0	0.115264	0	0	G	117969491	T	G	117969491	3	3	182	1	0	0	0	0	1	0	0	0	8621	1609	56	5	1183	5	KSR2	12	117969491	Missense_Mutation	SNP	T	TCGA-HC-7748-01A-11D-2114-08	109678696	117969491	15882404	23	8471											
SIAH3	283514	broad.mit.edu	37	chr13	46357972	46357972	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcaccaccacctccaggCggccttcccactggcaggag	7	4	13	17	1	0	0	0	0	0	0	2	1	2	1	6	6	0	2	6	6	0	1			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr13:46357972C>T	ENST00000400405.2	-	2	462	c.356G>A	c.(355-357)cGc>cAc	p.R119H		NM_198849.2	NP_942146.2	Q8IW03	SIAH3_HUMAN	siah E3 ubiquitin protein ligase family member 3	119					multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding			large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						CACCTCCAGGCGGCCTTCCCA	0.672													18	62					0	0	0.055883	0	0	T	46357972	C	T	46357972	3	4	182	1	0	0	0	0	1	0	0	0	14356	768	27	1	457	1	SIAH3	13	46357972	Missense_Mutation	SNP	C	TCGA-HC-7748-01A-11D-2114-08		46357972	68811906	24	8472											
ALDH1A3	220	broad.mit.edu	37	chr15	101425525	101425525	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgggaaaaagtttgctacAtgtaacccttcaactcggga	13	10	10	8	1	1	0	1	0	0	0	2	2	1	2	1	2	4	3	1	2	5	4			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr15:101425525A>C	ENST00000329841.5	+	2	685	c.153A>C	c.(151-153)acA>acC	p.T51T	ALDH1A3_ENST00000560555.1_3'UTR|ALDH1A3_ENST00000346623.6_Silent_p.T51T	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	51					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		NADH(DB00157)|Vitamin A(DB00162)	AGTTTGCTACATGTAACCCTT	0.343													3	65					0	0	0.115264	0	0	C	101425525	A	C	101425525	2	2	182	1	0	0	0	0	0	0	0	1	489	204	8	5		5	ALDH1A3	15	101425525	Silent	SNP	A	TCGA-HC-7748-01A-11D-2114-08		101425525	1105867	25	8473											
ZNF532	55205	broad.mit.edu	37	chr18	56585911	56585911	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacattcagccagtttagccCgatctccagtgctgaagagt	10	10	10	11	1	2	2	1	1	1	1	3	4	2	2	3	0	3	2	3	0	2	3			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr18:56585911C>T	ENST00000336078.4	+	4	1168	c.392C>T	c.(391-393)cCg>cTg	p.P131L	ZNF532_ENST00000591808.1_Missense_Mutation_p.P131L|ZNF532_ENST00000591230.1_Missense_Mutation_p.P131L|ZNF532_ENST00000591083.1_Missense_Mutation_p.P131L|ZNF532_ENST00000589288.1_Missense_Mutation_p.P131L	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	131					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						CAGTTTAGCCCGATCTCCAGT	0.498													24	60					0	0	0.083992	0	0	T	56585911	C	T	56585911	3	4	182	1	0	0	0	0	1	0	0	0	18029	652	23	1	394	1	ZNF532	18	56585911	Missense_Mutation	SNP	C	TCGA-HC-7748-01A-11D-2114-08		56585911	21491337	26	8474											
EPHX3	79852	broad.mit.edu	37	chr19	15338333	15338333	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggatccaatgccctatgcctGgcaggatgtgggcctccaag	8	8	13	12	0	0	0	0	0	0	0	2	2	2	2	5	4	2	1	5	4	3	1			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr19:15338333G>T	ENST00000221730.3	-	7	1218	c.998C>A	c.(997-999)cCa>cAa	p.P333Q	EPHX3_ENST00000602233.1_Missense_Mutation_p.P333Q|EPHX3_ENST00000435261.1_Missense_Mutation_p.P333Q	NM_024794.2	NP_079070.1	Q9H6B9	EPHX3_HUMAN	epoxide hydrolase 3	333						extracellular region	hydrolase activity			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						CCCTATGCCTGGCAGGATGTG	0.617													16	57					3.41278e-10	4.09534e-10	0.0333	1	0	T	15338333	G	T	15338333	3	4	182	1	0	0	0	0	1	0	0	0	5209	1348	47	4	88	4	EPHX3	19	15338333	Missense_Mutation	SNP	G	TCGA-HC-7748-01A-11D-2114-08		15338333	43790650	27	8475											
LSR	51599	broad.mit.edu	37	chr19	35757262	35757262	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgattgtgtcctcacagTgtatgccgccggcaaagcag	8	11	12	10	2	1	1	1	1	0	0	2	1	2	1	3	1	2	4	3	1	2	3			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr19:35757262T>C	ENST00000602122.1	+	5	1353	c.865_splice	c.e5-1	p.L289_splice	LSR_ENST00000347609.4_Splice_Site_p.L271_splice|LSR_ENST00000427250.1_Splice_Site_p.M152_splice|LSR_ENST00000360798.3_Splice_Site_p.V240_splice|LSR_ENST00000354900.3_Splice_Site_p.L289_splice|LSR_ENST00000361790.3_Splice_Site_p.L308_splice			Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	308	Cys-rich.				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GTCCTCACAGTGTATGCCGCC	0.632													29	100					0	0	0.054565	0	0	C	35757262	T	C	35757262	5	2	182	1	0	0	0	0	0	0	1	0	9109	1710	59	3	945	3	LSR	19	35757262	Splice_Site	SNP	T	TCGA-HC-7748-01A-11D-2114-08	20418929	35757262	23371721	28	8476											
KLK6	5653	broad.mit.edu	37	chr19	51466672	51466672	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttggctgggcgtgccaggcGcaacagcatgatgtcctggt	6	10	15	10	2	0	1	0	1	0	0	1	1	1	1	2	4	3	3	2	4	1	1			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr19:51466672G>A	ENST00000376851.3	-	4	770	c.331C>T	c.(331-333)Cgc>Tgc	p.R111C	KLK6_ENST00000391808.1_Missense_Mutation_p.R4C|CTB-147C22.8_ENST00000601506.1_RNA|KLK6_ENST00000310157.2_Missense_Mutation_p.R111C|KLK6_ENST00000456750.2_Missense_Mutation_p.R4C|KLK6_ENST00000376853.4_Intron|KLK6_ENST00000594641.1_Missense_Mutation_p.R111C	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6	111	Peptidase S1.				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity	p.R111C(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		CGTGCCAGGCGCAACAGCATG	0.612													4	53					0	0	0.009096	0	0	A	51466672	G	A	51466672	3	1	182	1	0	0	0	0	1	0	0	0	8451	1087	38	1	415	1	KLK6	19	51466672	Missense_Mutation	SNP	G	TCGA-HC-7748-01A-11D-2114-08	15709410	51466672	7662311	29	8477											
ZCCHC3	85364	broad.mit.edu	37	chr20	279007	279007	+	Frame_Shift_Del	DEL	C	C	-																															aagacgctcttcatcctcttCcggaacgagacggtggacgt																										TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr20:279007delC	ENST00000382352.3	+	1	1271	c.780delC	c.(778-780)ttfs	p.F260fs		NM_033089.6	NP_149080.2	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	260							nucleic acid binding|zinc ion binding			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)			TCATCCTCTTCCGGAACGAGA	0.597													25	74	---	---	---	---						-	279007	C	-	279007	7	5	182	1	0	1	0	1	0	0	0	0	17647	854	30	0	782	0	ZCCHC3	20	279007	Frame_Shift_Del	DEL	C	TCGA-HC-7748-01A-11D-2114-08		279007	62746513	30	8478											
CST5	1473	broad.mit.edu	37	chr20	23860160	23860160	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccttgttgtactcgctgaTggcaaagtccagggcacact	9	10	11	11	1	0	1	0	1	0	0	2	2	1	1	2	2	1	5	2	2	2	3			TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr20:23860160T>C	ENST00000304710.4	-	1	227	c.154A>G	c.(154-156)Atc>Gtc	p.I52V		NM_001900.4	NP_001891.2	P28325	CYTD_HUMAN	cystatin D	52						extracellular region	cysteine-type endopeptidase inhibitor activity|protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11						TACTCGCTGATGGCAAAGTCC	0.582													8	244					0	0	0.047766	0	0	C	23860160	T	C	23860160	3	2	182	1	0	0	0	0	1	0	0	0	4000	1464	51	3	286	3	CST5	20	23860160	Missense_Mutation	SNP	T	TCGA-HC-7748-01A-11D-2114-08	23581153	23860160	39165360	31	8479											
SLC12A5	57468	broad.mit.edu	37	chr20	44672552	44672552	+	Frame_Shift_Del	DEL	G	G	-																															ctgtttggggcctgcattgaGggggtcgtcctgcgggacaa																								rs145624716		TCGA-HC-7748-01A-11D-2114-08	TCGA-HC-7748-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e10b6bea-f2b0-4473-be35-709908f6f57b	deaa52ae-c93d-44dd-a41e-2d3b8efb7f6d	g.chr20:44672552delG	ENST00000454036.1	+	11	1519	c.1443delG	c.(1441-1443)gafs	p.E481fs	SLC12A5_ENST00000539566.1_Intron|SLC12A5_ENST00000243964.3_Frame_Shift_Del_p.E458fs	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	481					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCTGCATTGAGGGGGTCGTCC	0.557													8	187	---	---	---	---						-	44672552	G	-	44672552	7	5	182	1	0	1	0	1	0	0	0	0	14441	991	35	0	1541	0	SLC12A5	20	44672552	Frame_Shift_Del	DEL	G	TCGA-HC-7748-01A-11D-2114-08	20812392	44672552	18352968	32	8480											
SLC2A5	6518	broad.mit.edu	37	chr1	9099650	9099650	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgttcacggccccggtgccGgccgtcacgtactgcacgtg	5	7	13	16	7	2	0	2	0	0	0	2	0	2	0	4	3	3	3	4	3	1	2			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr1:9099650G>A	ENST00000377424.4	-	8	1136	c.957C>T	c.(955-957)gcC>gcT	p.A319A	SLC2A5_ENST00000536305.1_Silent_p.A260A|SLC2A5_ENST00000535586.1_Silent_p.A204A	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated glucose/fructose transporter), member 5	319					carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCGGTGCCGGCCGTCACGT	0.697													3	4					0	0	0.184627	0	0	A	9099650	G	A	9099650	2	1	183	1	0	0	0	0	0	0	0	1	14603	1103	39	1		1	SLC2A5	1	9099650	Silent	SNP	G	TCGA-HC-7749-01A-11D-2114-08		9099650	240150971	1	8481											
ASTN1	460	broad.mit.edu	37	chr1	176857225	176857225	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acacaggctgtgggagaggcGcacaggtggggagtccatca	10	5	17	9	1	1	1	1	0	0	1	2	3	2	2	1	6	0	2	1	6	0	0			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr1:176857225G>A	ENST00000367654.2	-	18	3093	c.3080C>T	c.(3079-3081)gCg>gTg	p.A1027V	ASTN1_ENST00000367657.3_Missense_Mutation_p.A1019V|ASTN1_ENST00000424564.2_Missense_Mutation_p.A1019V|ASTN1_ENST00000361833.2_Missense_Mutation_p.A1019V			O14525	ASTN1_HUMAN	astrotactin 1	1027					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TGGGAGAGGCGCACAGGTGGG	0.502													6	87					0	0	0.307466	0	0	A	176857225	G	A	176857225	3	1	183	1	0	0	0	0	1	0	0	0	1063	1087	38	1	856	1	ASTN1	1	176857225	Missense_Mutation	SNP	G	TCGA-HC-7749-01A-11D-2114-08	167757575	176857225	72393396	2	8482											
ASTN1	460	broad.mit.edu	37	chr1	177030386	177030386	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaccaaagggatatcctctGtgttccctgagatctctaga	10	11	9	11	0	2	2	0	1	2	2	5	4	4	3	3	1	0	2	3	1	3	3			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr1:177030386G>C	ENST00000367654.2	-	2	312	c.299C>G	c.(298-300)aCa>aGa	p.T100R	ASTN1_ENST00000367657.3_Missense_Mutation_p.T100R|ASTN1_ENST00000424564.2_Missense_Mutation_p.T100R|ASTN1_ENST00000361833.2_Missense_Mutation_p.T100R|ASTN1_ENST00000281881.3_5'UTR			O14525	ASTN1_HUMAN	astrotactin 1	100					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GATATCCTCTGTGTTCCCTGA	0.488													3	148					0	0	0.115264	0	0	C	177030386	G	C	177030386	3	2	183	1	0	0	0	0	1	0	0	0	1063	1377	48	4	3677	4	ASTN1	1	177030386	Missense_Mutation	SNP	G	TCGA-HC-7749-01A-11D-2114-08	173161	177030386	72220235	3	8483											
HEATR5B	54497	broad.mit.edu	37	chr2	37310452	37310453	+	Frame_Shift_Ins	INS	-	-	T																															ttgttggcagcaaccaagacINStttatcaagaaatcgcaacc																										TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr2:37310452_37310453insT	ENST00000233099.5	-	2	200_201	c.105_106insA	c.(103-108)aatcttfs	p.NL35fs	HEATR5B_ENST00000354531.2_Frame_Shift_Ins_p.NL35fs	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	35							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GCAACCAAGACTTTATCAAGAA	0.371													31	58	---	---	---	---						T	37310453	-	T	37310452	7	5	183	1	0	1	1	0	0	0	0	0	7073	565	20	0	6249	0	HEATR5B	2	37310452	Frame_Shift_Ins	INS	-	TCGA-HC-7749-01A-11D-2114-08		37310452	205888921	4	8484											
SLC8A1	6546	broad.mit.edu	37	chr2	40366712	40366712	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtattcagtaggggggaCgaaggcaaacaggaccttcc	12	6	13	10	1	1	0	1	0	0	0	2	3	2	2	3	5	1	3	3	5	4	4			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr2:40366712C>A	ENST00000406785.1	-	7	2455	c.2266G>T	c.(2266-2268)Gtc>Ttc	p.V756F	SLC8A1_ENST00000332839.4_Missense_Mutation_p.V792F|SLC8A1_ENST00000408028.2_Missense_Mutation_p.V784F|SLC8A1_ENST00000406391.2_Missense_Mutation_p.V756F|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000542756.1_Missense_Mutation_p.V787F|SLC8A1_ENST00000542024.1_Missense_Mutation_p.V756F|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000405901.3_Missense_Mutation_p.V787F|SLC8A1_ENST00000405269.1_Missense_Mutation_p.V756F|SLC8A1_ENST00000403092.1_Missense_Mutation_p.V792F|SLC8A1_ENST00000402441.1_Missense_Mutation_p.V756F			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	792					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GTAGGGGGGACGAAGGCAAAC	0.502													23	72					6.32553e-13	6.8287e-13	0.681144	1	0	A	40366712	C	A	40366712	3	1	183	1	0	0	0	0	1	0	0	0	14761	536	19	4	555	4	SLC8A1	2	40366712	Missense_Mutation	SNP	C	TCGA-HC-7749-01A-11D-2114-08	3056260	40366712	202832661	5	8485											
SOCS5	0	broad.mit.edu	37	chr2	46986141	46986141	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagagagaggcgctacggcGtaagttctgtacacgacatg	11	7	15	8	4	1	2	0	0	1	2	1	5	1	2	0	3	2	4	0	3	3	4			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr2:46986141G>A	ENST00000306503.5	+	2	644	c.472G>A	c.(472-474)Gta>Ata	p.V158I	SOCS5_ENST00000394861.2_Missense_Mutation_p.V158I	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	158					cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth					breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			GCGCTACGGCGTAAGTTCTGT	0.458													3	95					0	0	0.115264	0	0	A	46986141	G	A	46986141	3	1	183	1	0	0	0	0	1	0	0	0	14971	1145	40	1	474	1	SOCS5	2	46986141	Missense_Mutation	SNP	G	TCGA-HC-7749-01A-11D-2114-08	6619429	46986141	196213232	6	8486											
DPP10	57628	broad.mit.edu	37	chr2	116520170	116520170	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atatgagatgacatcagataCgtggctctctcagcaggtac	12	10	10	9	1	3	3	2	2	1	2	4	4	3	3	0	2	3	3	0	2	3	3			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr2:116520170C>T	ENST00000410059.1	+	12	1577	c.1097C>T	c.(1096-1098)aCg>aTg	p.T366M	DPP10_ENST00000393147.2_Missense_Mutation_p.T370M|DPP10_ENST00000409163.1_Missense_Mutation_p.T316M|DPP10_ENST00000310323.8_Missense_Mutation_p.T359M	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	366					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						ACATCAGATACGTGGCTCTCT	0.353													32	115					0	0	0.812448	0	0	T	116520170	C	T	116520170	3	4	183	1	0	0	0	0	1	0	0	0	4753	536	19	1	1314	1	DPP10	2	116520170	Missense_Mutation	SNP	C	TCGA-HC-7749-01A-11D-2114-08	69534029	116520170	126679203	7	8487											
GLI2	2736	broad.mit.edu	37	chr2	121726332	121726332	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtgacgccccgcctgagccGcaagcgggcgctgtccatct	5	6	14	16	5	1	2	0	2	1	0	2	2	2	2	5	2	2	2	5	2	1	0			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr2:121726332G>A	ENST00000452319.1	+	6	746	c.686G>A	c.(685-687)cGc>cAc	p.R229H	GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000361492.4_Missense_Mutation_p.R229H			P10070	GLI2_HUMAN	GLI family zinc finger 2	229					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CGCCTGAGCCGCAAGCGGGCG	0.637													11	129					0	0	0.435327	0	0	A	121726332	G	A	121726332	3	1	183	1	0	0	0	0	1	0	0	0	6480	1087	38	1	704	1	GLI2	2	121726332	Missense_Mutation	SNP	G	TCGA-HC-7749-01A-11D-2114-08	5206162	121726332	121473041	8	8488											
RIF1	55183	broad.mit.edu	37	chr2	152311552	152311552	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attctgataccctcttcactAttggcaactcaatcaccggc	10	12	5	14	1	5	1	3	1	2	0	5	1	5	1	2	2	2	1	2	2	4	5			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr2:152311552A>G	ENST00000243326.4	+	21	2971	c.2488A>G	c.(2488-2490)Att>Gtt	p.I830V	RIF1_ENST00000428287.2_Missense_Mutation_p.I830V|RIF1_ENST00000444746.2_Missense_Mutation_p.I830V|RIF1_ENST00000453091.2_Missense_Mutation_p.I830V|RIF1_ENST00000430328.2_Missense_Mutation_p.I830V			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	830					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		CCTCTTCACTATTGGCAACTC	0.383													3	137					0	0	0.115264	0	0	G	152311552	A	G	152311552	3	3	183	1	0	0	0	0	1	0	0	0	13409	449	16	3	2570	3	RIF1	2	152311552	Missense_Mutation	SNP	A	TCGA-HC-7749-01A-11D-2114-08	30585220	152311552	90887821	9	8489											
CYTIP	9595	broad.mit.edu	37	chr2	158272196	158272196	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaccacaatccgtcaaaagCgactttcttcctcttccaca	12	10	3	16	2	3	0	1	0	2	0	6	1	6	0	4	0	1	0	4	0	3	3			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr2:158272196C>T	ENST00000264192.3	-	8	1194	c.1073G>A	c.(1072-1074)cGc>cAc	p.R358H	CYTIP_ENST00000540637.1_Missense_Mutation_p.R252H	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	358					regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						CCGTCAAAAGCGACTTTCTTC	0.468													10	47					0	0	0.361761	0	0	T	158272196	C	T	158272196	3	4	183	1	0	0	0	0	1	0	0	0	4230	768	27	1	10	1	CYTIP	2	158272196	Missense_Mutation	SNP	C	TCGA-HC-7749-01A-11D-2114-08	5960644	158272196	84927177	10	8490											
TTN	7273	broad.mit.edu	37	chr2	179408725	179408725	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaggtcaatgccctgcttgCtccacgttatgacaggaggt	9	10	11	11	1	1	1	1	1	0	0	2	2	2	2	2	3	3	3	2	3	3	2			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr2:179408725C>T	ENST00000589042.1	-	346	96370	c.96146G>A	c.(96145-96147)aGc>aAc	p.S32049N	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S23109N|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S29481N|TTN_ENST00000460472.2_Missense_Mutation_p.S22984N|TTN_ENST00000342175.6_Missense_Mutation_p.S23176N|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S30408N|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	30408	Fibronectin type-III 132.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCCCTGCTTGCTCCACGTTAT	0.493													27	132					0	0	0.667858	0	0	T	179408725	C	T	179408725	3	4	183	1	0	0	0	0	1	0	0	0	16797	797	28	2	11901	2	TTN	2	179408725	Missense_Mutation	SNP	C	TCGA-HC-7749-01A-11D-2114-08	21136529	179408725	63790648	11	8491											
ORMDL1	94101	broad.mit.edu	37	chr2	190640394	190640394	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccttgctttaccctggtcagGagtttcgaaaggtgttcctt	6	15	10	10	1	1	0	1	0	0	0	3	2	2	1	3	3	2	3	3	3	2	6			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr2:190640394G>T	ENST00000325795.3	-	2	1009	c.223C>A	c.(223-225)Cct>Act	p.P75T	ORMDL1_ENST00000409519.1_Missense_Mutation_p.P75T|ORMDL1_ENST00000392350.3_Missense_Mutation_p.P75T|ORMDL1_ENST00000392349.4_Missense_Mutation_p.P75T			Q9P0S3	ORML1_HUMAN	ORM1-like 1 (S. cerevisiae)	75					ceramide metabolic process	endoplasmic reticulum membrane|integral to membrane				breast(1)|urinary_tract(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00177)|Epithelial(96;0.0317)|all cancers(119;0.0889)			CCCTGGTCAGGAGTTTCGAAA	0.378													21	51					2.79863e-10	2.9873e-10	0.681144	1	0	T	190640394	G	T	190640394	3	4	183	1	0	0	0	0	1	0	0	0	11316	1174	41	4	246	4	ORMDL1	2	190640394	Missense_Mutation	SNP	G	TCGA-HC-7749-01A-11D-2114-08	11231669	190640394	52558979	12	8492											
CAMK1	8536	broad.mit.edu	37	chr3	9804662	9804662	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcatccagcacctggaagAtgaggcggctggcgtcccgc	8	5	14	14	3	0	2	0	1	0	1	2	3	2	3	3	4	2	3	3	4	1	0			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr3:9804662A>T	ENST00000256460.3	-	5	542	c.365T>A	c.(364-366)aTc>aAc	p.I122N	OGG1_ENST00000383826.5_Intron|OGG1_ENST00000349503.5_Intron|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000302036.7_Intron|OGG1_ENST00000449570.2_Intron	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I	122	Protein kinase.				cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		CACCTGGAAGATGAGGCGGCT	0.597													16	35					0	0	0.520397	0	0	T	9804662	A	T	9804662	3	4	183	1	0	0	0	0	1	0	0	0	2614	333	12	5	779	5	CAMK1	3	9804662	Missense_Mutation	SNP	A	TCGA-HC-7749-01A-11D-2114-08		9804662	188217768	13	8493											
ULK4	54986	broad.mit.edu	37	chr3	41860984	41860985	+	Frame_Shift_Ins	INS	-	-	T																															cccagcactctctagggttcINSttttttttttcttcctaaaa																								rs76318575		TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr3:41860984_41860985insT	ENST00000301831.4	-	19	2240_2241	c.1778_1779insA	c.(1777-1779)aaafs	p.K593fs		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	593							ATP binding|protein serine/threonine kinase activity	p.K593fs*17(1)		breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CTCTAGGGTTCTTTTTTTTTTC	0.45													7	86	---	---	---	---						T	41860985	-	T	41860984	7	5	183	1	0	1	1	0	0	0	0	0	17038	912	32	0	2124	0	ULK4	3	41860984	Frame_Shift_Ins	INS	-	TCGA-HC-7749-01A-11D-2114-08	32056322	41860984	156161446	14	8494											
TMPRSS7	344805	broad.mit.edu	37	chr3	111793168	111793168	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccatgcaacaacagaactttTaagtgtggcaatgatatttg	14	12	8	7	0	0	2	0	1	0	1	0	2	0	2	1	1	4	2	1	1	6	4			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr3:111793168T>A	ENST00000452346.2	+	14	1695	c.1692T>A	c.(1690-1692)ttT>ttA	p.F564L	TMPRSS7_ENST00000419127.1_Missense_Mutation_p.F438L			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	564	LDL-receptor class A 3.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						ACAGAACTTTTAAGTGTGGCA	0.368													8	92					0	0	0.307466	0	0	A	111793168	T	A	111793168	3	1	183	1	0	0	0	0	1	0	0	0	16312	1751	61	5	1356	5	TMPRSS7	3	111793168	Missense_Mutation	SNP	T	TCGA-HC-7749-01A-11D-2114-08	69932184	111793168	86229262	15	8495											
ITGB5	3693	broad.mit.edu	37	chr3	124527930	124527930	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gataggataccccatcttggCaggtagcagtaaagaagaga	15	7	12	7	0	1	2	0	0	1	2	1	5	1	3	2	3	2	4	2	3	6	5			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr3:124527930C>G	ENST00000296181.4	-	9	1498	c.1202G>C	c.(1201-1203)tGc>tCc	p.C401S	ITGB5_ENST00000488466.1_5'UTR	NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	401					cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		CCCATCTTGGCAGGTAGCAGT	0.473													22	129					0	0	0.654019	0	0	G	124527930	C	G	124527930	3	3	183	1	0	0	0	0	1	0	0	0	7942	710	25	4	1225	4	ITGB5	3	124527930	Missense_Mutation	SNP	C	TCGA-HC-7749-01A-11D-2114-08	12734762	124527930	73494500	16	8496											
UROC1	131669	broad.mit.edu	37	chr3	126207086	126207086	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcgacccaggtggctccgCgacaggcatctcccacgaag	8	4	14	15	4	1	0	0	0	1	0	3	3	2	0	3	4	0	2	3	4	1	0			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr3:126207086C>T	ENST00000290868.2	-	18	1798	c.1745G>A	c.(1744-1746)cGc>cAc	p.R582H	UROC1_ENST00000383579.3_Missense_Mutation_p.R642H	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	582					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		GGTGGCTCCGCGACAGGCATC	0.612													6	175					0	0	0.248553	0	0	T	126207086	C	T	126207086	3	4	183	1	0	0	0	0	1	0	0	0	17088	768	27	1	297	1	UROC1	3	126207086	Missense_Mutation	SNP	C	TCGA-HC-7749-01A-11D-2114-08	1679156	126207086	71815344	17	8497											
TRIM42	287015	broad.mit.edu	37	chr3	140406842	140406842	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccctgaaggagactggccagGtggcattcctgcagtcagcc	8	7	13	13	0	1	2	1	1	0	1	2	3	2	2	4	4	2	2	4	4	1	1			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr3:140406842G>A	ENST00000286349.3	+	3	1509	c.1318G>A	c.(1318-1320)Gtg>Atg	p.V440M		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	440	COS.					intracellular	zinc ion binding	p.V440L(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GACTGGCCAGGTGGCATTCCT	0.517													6	57					0	0	0.248553	0	0	A	140406842	G	A	140406842	3	1	183	1	0	0	0	0	1	0	0	0	16578	1261	44	2	1328	2	TRIM42	3	140406842	Missense_Mutation	SNP	G	TCGA-HC-7749-01A-11D-2114-08	14199756	140406842	57615588	18	8498											
KLHL6	89857	broad.mit.edu	37	chr3	183273149	183273149	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtcctaggcatgctgacCtgaaatagttgctggctgcg	7	11	13	10	1	0	2	0	2	0	0	1	2	1	2	2	3	3	5	2	3	3	3			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr3:183273149C>G	ENST00000341319.3	-	1	328	c.293_splice	c.e1+1	p.R98_splice		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	98	BTB.									breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			GCATGCTGACCTGAAATAGTT	0.493													7	94					0	0	0.248553	0	0	G	183273149	C	G	183273149	5	3	183	1	0	0	0	0	0	0	1	0	8436	695	24	4	1600	4	KLHL6	3	183273149	Splice_Site	SNP	C	TCGA-HC-7749-01A-11D-2114-08	42866307	183273149	14749281	19	8499											
CLRN2	645104	broad.mit.edu	37	chr4	17528619	17528619	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatgctgcaaacttggtcGtggtggcgatcagtcaaatt	9	11	11	10	2	2	0	2	0	0	0	3	1	2	0	1	3	3	2	1	3	2	2			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr4:17528619G>A	ENST00000511148.2	+	3	715	c.613G>A	c.(613-615)Gtg>Atg	p.V205M		NM_001079827.2	NP_001073296.1	A0PK11	CLRN2_HUMAN	clarin 2	205						integral to membrane				breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						AAACTTGGTCGTGGTGGCGAT	0.507													3	74					0	0	0.115264	0	0	A	17528619	G	A	17528619	3	1	183	1	0	0	0	0	1	0	0	0	3581	1145	40	1	623	1	CLRN2	4	17528619	Missense_Mutation	SNP	G	TCGA-HC-7749-01A-11D-2114-08		17528619	173625657	20	8500											
PPP3CA	5530	broad.mit.edu	37	chr4	102001731	102001731	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtaatttggtgctgaaaaaaTtgtaattagagaagggaagc	16	11	12	2	0	0	2	0	1	0	1	0	4	0	3	0	2	2	3	0	2	8	5			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr4:102001731T>A	ENST00000394854.3	-	8	1596	c.913A>T	c.(913-915)Att>Ttt	p.I305F	PPP3CA_ENST00000323055.6_Missense_Mutation_p.I305F|PPP3CA_ENST00000523694.2_Missense_Mutation_p.I238F|PPP3CA_ENST00000512215.1_Intron|PPP3CA_ENST00000394853.4_Missense_Mutation_p.I305F|PPP3CA_ENST00000507176.1_Missense_Mutation_p.I207F	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	305					protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		GCTGAAAAAATTGTAATTAGA	0.313													23	35					0	0	0.706142	0	0	A	102001731	T	A	102001731	3	1	183	1	0	0	0	0	1	0	0	0	12446	1493	52	5	680	5	PPP3CA	4	102001731	Missense_Mutation	SNP	T	TCGA-HC-7749-01A-11D-2114-08	84473112	102001731	89152545	21	8501											
ESM1	11082	broad.mit.edu	37	chr5	54281325	54281325	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcaggcacgaggagcgtggtCagcagcaagacgctcttcat	10	6	14	11	3	3	1	2	0	1	1	3	3	3	2	0	3	3	5	0	3	1	1			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr5:54281325C>G	ENST00000381405.4	-	1	166	c.21G>C	c.(19-21)ctG>ctC	p.L7L	ESM1_ENST00000598310.1_Intron|ESM1_ENST00000381403.4_Silent_p.L7L	NM_007036.4	NP_008967.1	Q9NQ30	ESM1_HUMAN	endothelial cell-specific molecule 1	7					angiogenesis|regulation of cell growth	extracellular region	growth factor activity|insulin-like growth factor binding			breast(1)|kidney(1)|large_intestine(4)|lung(4)	10		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116)	Lung(15;0.23)			GGAGCGTGGTCAGCAGCAAGA	0.597													3	65					0	0	0.150653	0	0	G	54281325	C	G	54281325	2	3	183	1	0	0	0	0	0	0	0	1	5280	813	29	4		4	ESM1	5	54281325	Silent	SNP	C	TCGA-HC-7749-01A-11D-2114-08		54281325	126633935	22	8502											
TCERG1	10915	broad.mit.edu	37	chr5	145834701	145834701	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggcccaccacctctgatgCgacctcctccaccttttggt	6	10	8	17	1	1	1	0	1	1	0	3	3	3	1	7	2	1	0	7	2	0	2			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr5:145834701C>T	ENST00000296702.5	+	2	180	c.142C>T	c.(142-144)Cga>Tga	p.R48*	TCERG1_ENST00000394421.2_Nonsense_Mutation_p.R48*	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	48	Pro-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	p.R48*(1)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCTCTGATGCGACCTCCTCC	0.607													4	225					0	0	0.184627	0	0	T	145834701	C	T	145834701	4	4	183	1	0	0	0	0	0	1	0	0	15745	760	27	1	148	1	TCERG1	5	145834701	Nonsense_Mutation	SNP	C	TCGA-HC-7749-01A-11D-2114-08	91553376	145834701	35080559	23	8503											
SYNPO	11346	broad.mit.edu	37	chr5	150029504	150029504	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgagaacggggtcctgcGcccagagcccaccaagcagc	9	3	13	16	2	0	2	0	1	0	2	1	3	1	2	5	2	5	1	5	2	2	0			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr5:150029504G>A	ENST00000394243.1	+	3	2773	c.2399G>A	c.(2398-2400)cGc>cAc	p.R800H	SYNPO_ENST00000522122.1_Missense_Mutation_p.R800H|SYNPO_ENST00000307662.4_Missense_Mutation_p.R556H|SYNPO_ENST00000519664.1_Missense_Mutation_p.R556H	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	800	Pro-rich.				positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGGTCCTGCGCCCAGAGCCC	0.667													32	160					0	0	0.804634	0	0	A	150029504	G	A	150029504	3	1	183	1	0	0	0	0	1	0	0	0	15513	1087	38	1	2405	1	SYNPO	5	150029504	Missense_Mutation	SNP	G	TCGA-HC-7749-01A-11D-2114-08	4194803	150029504	30885756	24	8504											
FAT2	2196	broad.mit.edu	37	chr5	150891839	150891839	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccagcaagcctgccaccGtcttgccaggggccagcaga	8	6	11	16	1	2	1	0	0	2	1	3	1	2	1	6	2	5	2	6	2	1	1	rs140427755		TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr5:150891839G>A	ENST00000261800.5	-	20	11804	c.11792C>T	c.(11791-11793)aCg>aTg	p.T3931M	CTC-251D13.1_ENST00000606930.1_RNA	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3931	Laminin G-like.				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)			GCCTGCCACCGTCTTGCCAGG	0.577													7	101					0	0	0.248553	0	0	A	150891839	G	A	150891839	3	1	183	1	0	0	0	0	1	0	0	0	5723	1145	40	1	1273	1	FAT2	5	150891839	Missense_Mutation	SNP	G	TCGA-HC-7749-01A-11D-2114-08	862335	150891839	30023421	25	8505											
HLA-E	3133	broad.mit.edu	37	chr6	30459140	30459140	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaggagcagagatacacGtgccatgtgcagcatgaggg	12	5	17	7	1	0	3	0	1	0	2	0	6	0	4	1	3	5	3	1	3	1	1			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr6:30459140G>C	ENST00000376630.4	+	4	902	c.837G>C	c.(835-837)acG>acC	p.T279T		NM_005516.5	NP_005507.3	P13747	HLAE_HUMAN	major histocompatibility complex, class I, E	279	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)|ovary(3)|skin(1)|urinary_tract(1)	18						AGAGATACACGTGCCATGTGC	0.622													3	104					0	0	0.115264	0	0	C	30459140	G	C	30459140	2	2	183	1	0	0	0	0	0	0	0	1	7251	1132	40	4		4	HLA-E	6	30459140	Silent	SNP	G	TCGA-HC-7749-01A-11D-2114-08		30459140	140655927	26	8506											
RUNX2	860	broad.mit.edu	37	chr6	45390482	45390482	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcaacagcagcagcagcagCaggaggcggcggcggcggct	10	1	18	12	4	0	0	0	0	0	0	0	1	0	1	0	6	7	7	0	6	1	0			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr6:45390482C>G	ENST00000371438.1	+	2	569	c.211C>G	c.(211-213)Cag>Gag	p.Q71E	RUNX2_ENST00000371432.3_Missense_Mutation_p.Q57E|RUNX2_ENST00000465038.2_Missense_Mutation_p.Q71E|RUNX2_ENST00000371436.6_Missense_Mutation_p.Q71E|RUNX2_ENST00000576263.1_Missense_Mutation_p.Q71E|RUNX2_ENST00000352853.5_Missense_Mutation_p.Q139E|RUNX2_ENST00000541979.1_Missense_Mutation_p.Q139E|RUNX2_ENST00000359524.5_Missense_Mutation_p.Q57E	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	71	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						gcagcagcagcaggaggcggc	0.716													3	8					0	0	0.115264	0	0	G	45390482	C	G	45390482	3	3	183	1	0	0	0	0	1	0	0	0	13800	711	25	4	233	4	RUNX2	6	45390482	Missense_Mutation	SNP	C	TCGA-HC-7749-01A-11D-2114-08	14931342	45390482	125724585	27	8507											
DDX43	55510	broad.mit.edu	37	chr6	74111706	74111706	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaatggcaaaaaacaaaGtgggcaggtcagtgctgctt	14	9	12	6	0	1	1	1	1	0	0	1	1	1	1	0	3	3	4	0	3	5	2			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr6:74111706G>C	ENST00000370336.4	+	4	719	c.561G>C	c.(559-561)aaG>aaC	p.K187N	DDX43_ENST00000539829.1_Missense_Mutation_p.K187N	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	187						intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						AAAAAACAAAGTGGGCAGGTC	0.358													52	80					0	0	0.870114	0	0	C	74111706	G	C	74111706	3	2	183	1	0	0	0	0	1	0	0	0	4386	1020	36	4	575	4	DDX43	6	74111706	Missense_Mutation	SNP	G	TCGA-HC-7749-01A-11D-2114-08	28721224	74111706	97003361	28	8508											
ZNF292	23036	broad.mit.edu	37	chr6	87969690	87969690	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acagtccttacagaccttatCgatgtgttcaccagggatgc	10	11	9	11	1	1	1	1	0	0	1	3	3	2	2	3	1	2	1	3	1	2	3			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr6:87969690C>T	ENST00000369577.3	+	8	6386	c.6343C>T	c.(6343-6345)Cga>Tga	p.R2115*	ZNF292_ENST00000339907.4_Nonsense_Mutation_p.R2110*	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2115					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R2115*(1)|p.R1970*(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CAGACCTTATCGATGTGTTCA	0.418													27	62					0	0	0.760397	0	0	T	87969690	C	T	87969690	4	4	183	1	0	0	0	0	0	1	0	0	17883	876	31	1	6373	1	ZNF292	6	87969690	Nonsense_Mutation	SNP	C	TCGA-HC-7749-01A-11D-2114-08	13857984	87969690	83145377	29	8509											
CNR1	0	broad.mit.edu	37	chr6	88854141	88854141	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacgatgaacagaagcagtaCgctggtgaccccgatccaga	13	5	11	12	3	0	4	0	2	0	2	1	6	1	4	3	1	3	3	3	1	3	1			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr6:88854141C>T	ENST00000537554.1	-	2	4415	c.853G>A	c.(853-855)Gta>Ata	p.V285I	CNR1_ENST00000468898.1_Missense_Mutation_p.V252I|CNR1_ENST00000369499.2_Missense_Mutation_p.V285I|CNR1_ENST00000535130.1_Missense_Mutation_p.V285I|CNR1_ENST00000369501.2_Missense_Mutation_p.V285I|CNR1_ENST00000549890.1_Missense_Mutation_p.V285I|CNR1_ENST00000549716.1_Missense_Mutation_p.V224I|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000428600.2_Missense_Mutation_p.V285I	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	285					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	AGAAGCAGTACGCTGGTGACC	0.507													11	49					0	0	0.411799	0	0	T	88854141	C	T	88854141	3	4	183	1	0	0	0	0	1	0	0	0	3654	536	19	1	569	1	CNR1	6	88854141	Missense_Mutation	SNP	C	TCGA-HC-7749-01A-11D-2114-08	884451	88854141	82260926	30	8510											
ARID1B	57492	broad.mit.edu	37	chr6	157454170	157454170	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttcccacttaggttttatgGcaggcacacaaagaaaccct	12	11	7	11	0	0	1	0	0	0	1	1	1	1	1	2	3	1	3	2	3	4	4			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr6:157454170G>A	ENST00000346085.5	+	8	2381	c.2380G>A	c.(2380-2382)Gca>Aca	p.A794T	ARID1B_ENST00000367148.1_Missense_Mutation_p.A781T|ARID1B_ENST00000275248.4_Missense_Mutation_p.A723T|ARID1B_ENST00000350026.5_Missense_Mutation_p.A781T	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	781					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		AGGTTTTATGGCAGGCACACA	0.468													15	46					0	0	0.592651	0	0	A	157454170	G	A	157454170	3	1	183	1	0	0	0	0	1	0	0	0	911	1203	42	2	2410	2	ARID1B	6	157454170	Missense_Mutation	SNP	G	TCGA-HC-7749-01A-11D-2114-08	68600029	157454170	13660897	31	8511											
KCTD7	154881	broad.mit.edu	37	chr7	66103989	66103989	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaactccctgcgatttgagCggagtgagagtgacgggcag	9	8	15	9	3	1	3	1	3	0	1	2	6	2	4	1	2	3	1	1	2	1	1			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr7:66103989C>T	ENST00000275532.3	+	4	824	c.640C>T	c.(640-642)Cgg>Tgg	p.R214W	KCTD7_ENST00000443322.1_Missense_Mutation_p.R214W	NM_001167961.2|NM_153033.4	NP_001161433.1|NP_694578.1	Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	214						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						GCGATTTGAGCGGAGTGAGAG	0.567													4	126					0	0	0.184627	0	0	T	66103989	C	T	66103989	3	4	183	1	0	0	0	0	1	0	0	0	8158	759	27	1	654	1	KCTD7	7	66103989	Missense_Mutation	SNP	C	TCGA-HC-7749-01A-11D-2114-08		66103989	93034674	32	8512											
CSMD1	64478	broad.mit.edu	37	chr8	2806884	2806884	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaccttgaaaagtaaatcCtcctctttcaagtccagatg	12	12	6	11	0	3	2	2	1	1	1	6	2	6	2	4	0	0	1	4	0	5	3			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr8:2806884C>A	ENST00000520002.1	-	69	10897	c.10342G>T	c.(10342-10344)Gga>Tga	p.G3448*	CSMD1_ENST00000542608.1_Nonsense_Mutation_p.G3270*|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.G3447*|CSMD1_ENST00000602723.1_Nonsense_Mutation_p.G3271*|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.G3271*|CSMD1_ENST00000602557.1_Nonsense_Mutation_p.G3448*			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3448						integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AAAGTAAATCCTCCTCTTTCA	0.318													14	32					0.0202918	0.0209535	0.457914	1	0	A	2806884	C	A	2806884	4	1	183	1	0	0	0	0	0	1	0	0	3969	690	24	4	367	4	CSMD1	8	2806884	Nonsense_Mutation	SNP	C	TCGA-HC-7749-01A-11D-2114-08		2806884	143557138	33	8513											
IMPA1	3612	broad.mit.edu	37	chr8	82591382	82591382	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tatgtacaaagttagttgttCcatcaatagggtcaatgatc	13	14	8	6	0	2	1	2	1	0	0	4	1	3	1	1	1	1	4	1	1	7	6			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr8:82591382C>T	ENST00000256108.5	-	4	746	c.281G>A	c.(280-282)gGa>gAa	p.G94E	IMPA1_ENST00000523710.1_5'UTR|IMPA1_ENST00000449740.2_Missense_Mutation_p.G153E|IMPA1_ENST00000311489.4_Missense_Mutation_p.G94E	NM_005536.3	NP_005527.1	P29218	IMPA1_HUMAN	inositol(myo)-1(or 4)-monophosphatase 1	94	Substrate binding.				inositol phosphate dephosphorylation|phosphatidylinositol biosynthetic process|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity			NS(1)|cervix(1)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|stomach(1)	18					Lithium(DB01356)	GTTAGTTGTTCCATCAATAGG	0.353													22	55					0	0	0.639603	0	0	T	82591382	C	T	82591382	3	4	183	1	0	0	0	0	1	0	0	0	7766	855	30	2	576	2	IMPA1	8	82591382	Missense_Mutation	SNP	C	TCGA-HC-7749-01A-11D-2114-08	79784498	82591382	63772640	34	8514											
CENPP	401541	broad.mit.edu	37	chr9	95375385	95375385	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actgcttggaatcgaagctgCtctggaaagcctgataaaat	13	10	10	8	1	1	1	0	1	1	0	2	4	1	3	1	2	4	3	1	2	5	2			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr9:95375385C>T	ENST00000375587.3	+	8	1336	c.821C>T	c.(820-822)gCt>gTt	p.A274V	CENPP_ENST00000375576.1_Missense_Mutation_p.A88V|CENPP_ENST00000375579.3_Missense_Mutation_p.A101V	NM_001012267.1	NP_001012267.1	Q6IPU0	CENPP_HUMAN	centromere protein P	274					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	chromosome, centromeric region|cytosol|nucleoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(1)	16						ATCGAAGCTGCTCTGGAAAGC	0.473													46	102					0	0	0.870114	0	0	T	95375385	C	T	95375385	3	4	183	1	0	0	0	0	1	0	0	0	3262	797	28	2	851	2	CENPP	9	95375385	Missense_Mutation	SNP	C	TCGA-HC-7749-01A-11D-2114-08		95375385	45838046	35	8515											
XPA	7507	broad.mit.edu	37	chr9	100447235	100447235	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttatcaaatttcttctgttTcattttttctcggttttcct	5	25	3	8	1	5	0	2	0	3	0	7	0	6	0	1	1	0	2	1	1	2	10			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr9:100447235T>A	ENST00000375128.4	-	5	707	c.643A>T	c.(643-645)Aaa>Taa	p.K215*		NM_000380.3	NP_000371.1	P23025	XPA_HUMAN	xeroderma pigmentosum, complementation group A	215					nucleotide-excision repair, DNA damage removal	nucleoplasm	damaged DNA binding|metal ion binding|nucleotide binding|protein domain specific binding|protein homodimerization activity			breast(1)|endometrium(4)|large_intestine(1)|lung(4)|prostate(1)	11		Acute lymphoblastic leukemia(62;0.158)				TTCTTCTGTTTCATTTTTTCT	0.353			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				5	41					0	0	0.217242	0	0	A	100447235	T	A	100447235	4	1	183	1	0	0	0	0	0	1	0	0	17500	1792	62	5	186	5	XPA	9	100447235	Nonsense_Mutation	SNP	T	TCGA-HC-7749-01A-11D-2114-08	5071850	100447235	40766196	36	8516											
C9orf16	79095	broad.mit.edu	37	chr9	130925872	130925872	+	Frame_Shift_Del	DEL	C	C	-																															ccagcagcagctcggggaggCccccagtgatgccagcccct																										TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr9:130925872delC	ENST00000372994.1	+	2	378	c.230delC	c.(229-231)gcfs	p.A77fs	C9orf16_ENST00000492588.1_3'UTR	NM_024112.3	NP_077017.1	Q9BUW7	CI016_HUMAN	chromosome 9 open reading frame 16	77										ovary(1)	1		Myeloproliferative disorder(762;0.0511)		GBM - Glioblastoma multiforme(294;0.0294)		CTCGGGGAGGCCCCCAGTGAT	0.677													2	4	---	---	---	---						-	130925872	C	-	130925872	7	5	183	1	0	1	0	1	0	0	0	0	2484	739	26	0	236	0	C9orf16	9	130925872	Frame_Shift_Del	DEL	C	TCGA-HC-7749-01A-11D-2114-08	30478637	130925872	10287559	37	8517											
IPMK	253430	broad.mit.edu	37	chr10	59975932	59975932	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaagcaccaagaacccaaTctcttccattaatgggtact	13	9	6	13	0	1	1	0	0	1	1	3	1	2	1	4	1	3	2	4	1	6	3			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr10:59975932T>C	ENST00000373935.3	-	4	842	c.520A>G	c.(520-522)Att>Gtt	p.I174V		NM_152230.4	NP_689416.1	Q8NFU5	IPMK_HUMAN	inositol polyphosphate multikinase	174						nucleus	ATP binding|inositol trisphosphate 6-kinase activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						AAGAACCCAATCTCTTCCATT	0.388													39	85					0	0	0.870114	0	0	C	59975932	T	C	59975932	3	2	183	1	0	0	0	0	1	0	0	0	7836	1435	50	3	742	3	IPMK	10	59975932	Missense_Mutation	SNP	T	TCGA-HC-7749-01A-11D-2114-08		59975932	75558815	38	8518											
TLX1NB	100038246	broad.mit.edu	37	chr10	102849597	102849597	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cccatggcctcttgggaaagGagagagtgctgacttgccca	9	8	13	11	0	1	2	0	1	1	1	1	5	1	4	3	3	2	1	3	3	1	2			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr10:102849597G>A	ENST00000445873.1	-	3	1342	c.66C>T	c.(64-66)ctC>ctT	p.L22L		NM_001085398.1	NP_001078867.1	P0CAT3	TLXNB_HUMAN	TLX1 neighbor	22																	CTTGGGAAAGGAGAGAGTGCT	0.662													8	11					0	0	0.335167	0	0	A	102849597	G	A	102849597	2	1	183	1	0	0	0	0	0	0	0	1	16020	1161	41	2		2	TLX1NB	10	102849597	Silent	SNP	G	TCGA-HC-7749-01A-11D-2114-08	42873665	102849597	32685150	39	8519											
TSPAN4	0	broad.mit.edu	37	chr11	864455	864455	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttcttcctgctgctgctgCtggtgttcctgctggaggcc	2	14	13	12	0	1	0	0	0	1	0	3	1	3	1	3	3	5	7	3	3	0	3			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr11:864455C>G	ENST00000397404.1	+	5	533	c.274C>G	c.(274-276)Ctg>Gtg	p.L92V	TSPAN4_ENST00000397397.2_Missense_Mutation_p.L92V|TSPAN4_ENST00000525201.1_Missense_Mutation_p.L28V|TSPAN4_ENST00000397406.1_Missense_Mutation_p.L92V|TSPAN4_ENST00000409531.1_Missense_Mutation_p.L111V|TSPAN4_ENST00000409543.2_Missense_Mutation_p.L92V|TSPAN4_ENST00000397408.1_Missense_Mutation_p.L92V|TSPAN4_ENST00000397411.2_Missense_Mutation_p.L92V|TSPAN4_ENST00000397396.1_Missense_Mutation_p.L28V|TSPAN4_ENST00000346501.4_Missense_Mutation_p.L92V	NM_001025237.1	NP_001020408.1	O14817	TSN4_HUMAN	tetraspanin 4	92					protein complex assembly	integral to plasma membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCTGCTGCTGCTGGTGTTCCT	0.672													4	144					0	0	0.307466	0	0	G	864455	C	G	864455	3	3	183	1	0	0	0	0	1	0	0	0	16710	796	28	4	284	4	TSPAN4	11	864455	Missense_Mutation	SNP	C	TCGA-HC-7749-01A-11D-2114-08		864455	134142061	40	8520											
LTBP3	4054	broad.mit.edu	37	chr11	65325326	65325328	+	In_Frame_Del	DEL	CAG	CAG	-																															tcgaccctgccgcccaggccCagcagcagcagcagcagcag																										TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr11:65325326_65325328delCAG	ENST00000301873.5	-	1	371_373	c.103_105delCTG	c.(103-105)del	p.L35del	LTBP3_ENST00000322147.4_In_Frame_Del_p.L35del	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	35	Gly-rich.			Missing (in Ref. 2; BAB15767).		extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						cgcccaggcccagcagcagcagc	0.818													4	7	---	---	---	---						-	65325328	CAG	-	65325326	7	5	183	1	0	1	0	1	0	0	0	0	9120	581	21	0	3918	0	LTBP3	11	65325326	In_Frame_Del	DEL	CAG	TCGA-HC-7749-01A-11D-2114-08	64460871	65325326	69681190	41	8521											
ANKRD49	54851	broad.mit.edu	37	chr11	94230131	94230131	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaatcgggtaaaaaaaaaaaTtacagagggaagtgtgacag	21	6	11	3	1	0	2	0	1	0	1	1	3	0	3	0	2	1	1	0	2	9	2			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr11:94230131T>A	ENST00000544253.1	+	2	390	c.272T>A	c.(271-273)aTt>aAt	p.I91N	ANKRD49_ENST00000544612.1_Intron|ANKRD49_ENST00000540349.1_Missense_Mutation_p.I91N|ANKRD49_ENST00000302755.4_Intron			Q8WVL7	ANR49_HUMAN	ankyrin repeat domain 49	0					positive regulation of transcription, DNA-dependent					autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AAAAAAAAAATTACAGAGGGA	0.398													3	76					0	0	0.150653	0	0	A	94230131	T	A	94230131	3	1	183	1	0	0	0	0	1	0	0	0	669	1508	52	5		5	ANKRD49	11	94230131	Missense_Mutation	SNP	T	TCGA-HC-7749-01A-11D-2114-08	28904805	94230131	40776385	42	8522											
MMP3	4314	broad.mit.edu	37	chr11	102710883	102710883	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctcagagtgctgacagcAtcaaaggacaaagcaggatc	14	5	10	12	0	2	2	2	1	0	1	3	4	2	4	2	2	3	3	2	2	2	0	rs150024311		TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr11:102710883A>G	ENST00000299855.5	-	6	1147	c.891T>C	c.(889-891)gaT>gaC	p.D297D		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	297	Hemopexin-like 1.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	TGCTGACAGCATCAAAGGACA	0.493													4	134					0	0	0.217242	0	0	G	102710883	A	G	102710883	2	3	183	1	0	0	0	0	0	0	0	1	9715	214	8	3		3	MMP3	11	102710883	Silent	SNP	A	TCGA-HC-7749-01A-11D-2114-08	8480752	102710883	32295633	43	8523											
SIAE	54414	broad.mit.edu	37	chr11	124539286	124539286	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtcactttcttcatgatggTttcctgaccttggcgcaggg	5	14	12	10	1	3	2	2	2	1	0	4	2	4	2	2	4	0	2	2	4	0	4			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr11:124539286T>G	ENST00000263593.3	-	2	371	c.199A>C	c.(199-201)Acc>Ccc	p.T67P	SIAE_ENST00000545756.1_Missense_Mutation_p.T32P			Q9HAT2	SIAE_HUMAN	sialic acid acetylesterase	67						extracellular region|lysosome	carboxylesterase activity|sialate O-acetylesterase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	15	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)		TTCATGATGGTTTCCTGACCT	0.522											OREG0021460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	64					0	0	0.788014	0	0	G	124539286	T	G	124539286	3	3	183	1	0	0	0	0	1	0	0	0	14353	1725	60	5	1408	5	SIAE	11	124539286	Missense_Mutation	SNP	T	TCGA-HC-7749-01A-11D-2114-08	21828403	124539286	10467230	44	8524											
TBX3	6926	broad.mit.edu	37	chr12	115109857	115109857	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctggcggccagggcggcgActttgccgtccaggggcccc	3	5	18	15	4	0	0	0	0	0	0	1	1	1	0	5	7	1	1	5	7	0	1			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr12:115109857A>C	ENST00000349155.2	-	7	2924	c.1961T>G	c.(1960-1962)gTc>gGc	p.V654G	TBX3_ENST00000257566.3_Missense_Mutation_p.V674G	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN	T-box 3	674	Transcription repression.				anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		CAGGGCGGCGACTTTGCCGTC	0.721													2	10					0	0	0.115264	0	0	C	115109857	A	C	115109857	3	2	183	1	0	0	0	0	1	0	0	0	15719	275	10	5	214	5	TBX3	12	115109857	Missense_Mutation	SNP	A	TCGA-HC-7749-01A-11D-2114-08		115109857	18742038	45	8525											
SLITRK1	114798	broad.mit.edu	37	chr13	84454931	84454931	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggggcttcgcagaccactcGgccgatcagggcattcttgg	6	8	15	12	3	2	1	1	0	1	1	4	2	2	1	2	5	0	3	2	5	0	3			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr13:84454931G>A	ENST00000377084.2	-	1	1597	c.712C>T	c.(712-714)Cga>Tga	p.R238*		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	238	LRRCT 1.					integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CAGACCACTCGGCCGATCAGG	0.522													11	68					0	0	0.457914	0	0	A	84454931	G	A	84454931	4	1	183	1	0	0	0	0	0	1	0	0	14796	1124	39	1	1382	1	SLITRK1	13	84454931	Nonsense_Mutation	SNP	G	TCGA-HC-7749-01A-11D-2114-08		84454931	30714947	46	8526											
NALCN	259232	broad.mit.edu	37	chr13	101833451	101833451	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctttccgaacactacttatcGaagattgtgagacaatgaca	14	11	7	9	2	0	3	0	2	0	2	2	6	1	3	1	0	2	0	1	0	5	4			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr13:101833451G>A	ENST00000376196.3	-	15	2161	c.2002C>T	c.(2002-2004)Cga>Tga	p.R668*	NALCN_ENST00000251127.6_Intron|NALCN_ENST00000470333.1_5'UTR			Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	0						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ACTACTTATCGAAGATTGTGA	0.473													10	177					0	0	0.435327	0	0	A	101833451	G	A	101833451	4	1	183	1	0	0	0	0	0	1	0	0	10196	1073	37	1		1	NALCN	13	101833451	Nonsense_Mutation	SNP	G	TCGA-HC-7749-01A-11D-2114-08	17378520	101833451	13336427	47	8527											
OR6S1	341799	broad.mit.edu	37	chr14	21109305	21109305	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggagcagtgggccactgtcGcagaagaagtgctgtaccac	10	6	14	11	2	0	2	0	0	0	2	1	3	0	3	2	2	3	4	2	2	3	1			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr14:21109305G>A	ENST00000320704.3	-	1	545	c.546C>T	c.(544-546)tgC>tgT	p.C182C		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		GGCCACTGTCGCAGAAGAAGT	0.587													15	27					0	0	0.500413	0	0	A	21109305	G	A	21109305	2	1	183	1	0	0	0	0	0	0	0	1	11256	1079	38	1		1	OR6S1	14	21109305	Silent	SNP	G	TCGA-HC-7749-01A-11D-2114-08		21109305	86240235	48	8528											
CDH24	64403	broad.mit.edu	37	chr14	23517622	23517622	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgttctctcggacgtccTcctcctccagtaccatcagt	6	13	7	15	2	2	1	1	1	1	0	8	2	6	2	5	1	1	2	5	1	1	2			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr14:23517622T>C	ENST00000397359.3	-	13	2286	c.2027A>G	c.(2026-2028)gAg>gGg	p.E676G	CDH24_ENST00000267383.5_Missense_Mutation_p.E676G|CDH24_ENST00000554034.1_Missense_Mutation_p.E638G|CDH24_ENST00000487137.2_Missense_Mutation_p.E638G|CDH24_ENST00000485922.1_5'UTR	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN	cadherin 24, type 2	676					adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		TCGGACGTCCTCCTCCTCCAG	0.667													4	167					0	0	0.150653	0	0	C	23517622	T	C	23517622	3	2	183	1	0	0	0	0	1	0	0	0	3131	1551	54	3	436	3	CDH24	14	23517622	Missense_Mutation	SNP	T	TCGA-HC-7749-01A-11D-2114-08	2408317	23517622	83831918	49	8529											
YLPM1	56252	broad.mit.edu	37	chr14	75265762	75265768	+	Frame_Shift_Del	DEL	GTCTCAT	GTCTCAT	-																															ttctcagcaccaccatctcgGtctcatgatggagataggcg																										TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr14:75265762_75265768delGTCTCAT	ENST00000325680.7	+	5	3886_3892	c.3762_3768delGTCTCAT	c.(3760-3768)cgfs	p.RSH1254fs	YLPM1_ENST00000238571.3_Frame_Shift_Del_p.RSH1059fs|YLPM1_ENST00000552421.1_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1059					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CACCATCTCGGTCTCATGATGGAGATA	0.488													7	58	---	---	---	---						-	75265768	GTCTCAT	-	75265762	7	5	183	1	0	1	0	1	0	0	0	0	17546	1248	44	0	3780	0	YLPM1	14	75265762	Frame_Shift_Del	DEL	GTCTCAT	TCGA-HC-7749-01A-11D-2114-08	51748140	75265762	32083778	50	8530											
ATXN3	4287	broad.mit.edu	37	chr14	92548749	92548749	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaaatcctcctcatcttCgtctaacattcctgagccat	9	13	4	15	1	3	1	1	1	2	0	7	1	6	1	4	0	3	1	4	0	2	3			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr14:92548749C>A	ENST00000545170.1	-	8	738	c.670G>T	c.(670-672)Gaa>Taa	p.E224*	ATXN3_ENST00000503767.1_Nonsense_Mutation_p.E209*|ATXN3_ENST00000532032.1_Nonsense_Mutation_p.E224*|ATXN3_ENST00000393287.5_Nonsense_Mutation_p.E224*|ATXN3_ENST00000340660.6_Nonsense_Mutation_p.E169*|ATXN3_ENST00000429774.2_Nonsense_Mutation_p.E209*|ATXN3_ENST00000554491.1_5'UTR|ATXN3_ENST00000502250.1_Nonsense_Mutation_p.E45*	NM_001164774.1|NM_001164776.1|NM_001164777.1|NM_001164778.1|NM_004993.5	NP_001158246.1|NP_001158248.1|NP_001158249.1|NP_001158250.1|NP_004984.2	P54252	ATX3_HUMAN	ataxin 3	224					cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleoplasm	cysteine-type peptidase activity|protein binding			endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	12		all_cancers(154;0.0768)		COAD - Colon adenocarcinoma(157;0.224)		TCCTCATCTTCGTCTAACATT	0.443													34	79					2.75727e-19	3.01081e-19	0.804634	1	0	A	92548749	C	A	92548749	4	1	183	1	0	0	0	0	0	1	0	0	1211	893	31	4	431	4	ATXN3	14	92548749	Nonsense_Mutation	SNP	C	TCGA-HC-7749-01A-11D-2114-08	17282987	92548749	14800791	51	8531											
CGNL1	84952	broad.mit.edu	37	chr15	57837818	57837818	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaatcttcagctcagcaacCggcggctggagcggaaagtg	10	6	13	12	3	3	0	2	0	1	0	3	2	3	2	2	4	4	3	2	4	3	1			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr15:57837818C>T	ENST00000281282.5	+	17	3607	c.3529C>T	c.(3529-3531)Cgg>Tgg	p.R1177W		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	1177						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		GCTCAGCAACCGGCGGCTGGA	0.602													3	32					0	0	0.115264	0	0	T	57837818	C	T	57837818	3	4	183	1	0	0	0	0	1	0	0	0	3326	643	23	1	3591	1	CGNL1	15	57837818	Missense_Mutation	SNP	C	TCGA-HC-7749-01A-11D-2114-08		57837818	44693574	52	8532											
XYLT1	64131	broad.mit.edu	37	chr16	17221576	17221577	+	Frame_Shift_Ins	INS	-	-	T																															gggcttgcgatcttgaagacINSttttttcggcatcacccagg																										TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr16:17221576_17221577insT	ENST00000261381.6	-	10	2253_2254	c.2169_2170insA	c.(2167-2172)aatcttfs	p.NL723fs		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	723					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ATCTTGAAGACTTTTTTCGGCA	0.49													22	186	---	---	---	---						T	17221577	-	T	17221576	7	5	183	1	0	1	1	0	0	0	0	0	17523	565	20	0	721	0	XYLT1	16	17221576	Frame_Shift_Ins	INS	-	TCGA-HC-7749-01A-11D-2114-08		17221576	73133177	53	8533											
ZNF423	23090	broad.mit.edu	37	chr16	49669907	49669907	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctggccattgggggaggaCgccgctgagctgcccgccag	5	5	16	15	3	0	1	0	1	0	0	0	3	0	3	5	4	2	2	5	4	0	1	rs117592972	byFrequency	TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr16:49669907C>T	ENST00000561648.1	-	4	3209	c.3156G>A	c.(3154-3156)gcG>gcA	p.A1052A	ZNF423_ENST00000562871.1_Silent_p.A992A|ZNF423_ENST00000567169.1_Silent_p.A935A|ZNF423_ENST00000262383.2_Silent_p.A1052A|ZNF423_ENST00000563137.2_Silent_p.A992A|ZNF423_ENST00000535559.1_Silent_p.A935A|ZNF423_ENST00000562520.1_Silent_p.A992A	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1052					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TGGGGGAGGACGCCGCTGAGC	0.602													4	17					0	0	0.150653	0	0	T	49669907	C	T	49669907	2	4	183	1	0	0	0	0	0	0	0	1	17955	523	19	1		1	ZNF423	16	49669907	Silent	SNP	C	TCGA-HC-7749-01A-11D-2114-08	32448331	49669907	40684846	54	8534											
MYH4	4622	broad.mit.edu	37	chr17	10350362	10350362	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagttgcacacgttcactggCatccagaagctcttgctctg	9	11	9	12	1	3	1	1	0	2	1	4	1	4	1	1	1	3	6	1	1	2	3			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr17:10350362C>T	ENST00000255381.2	-	35	5247	c.5137G>A	c.(5137-5139)Gcc>Acc	p.A1713T	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1713					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CGTTCACTGGCATCCAGAAGC	0.488													41	66					0	0	0.870114	0	0	T	10350362	C	T	10350362	3	4	183	1	0	0	0	0	1	0	0	0	10085	710	25	2	706	2	MYH4	17	10350362	Missense_Mutation	SNP	C	TCGA-HC-7749-01A-11D-2114-08		10350362	70844848	55	8535											
KRTAP3-3	85293	broad.mit.edu	37	chr17	39150283	39150283	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccacagcggcaggatttgtCagaggagcagatggtggtgg	9	8	17	7	1	1	2	1	0	0	2	2	4	2	4	1	6	2	2	1	6	0	1			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr17:39150283C>G	ENST00000391586.1	-	1	102	c.67G>C	c.(67-69)Gac>Cac	p.D23H		NM_033185.2	NP_149441.1	Q9BYR6	KRA33_HUMAN	keratin associated protein 3-3	23	3 X 5 AA repeats of C-C-X(3).					keratin filament	structural molecule activity			lung(2)|prostate(2)	4		Breast(137;0.00043)				CAGGATTTGTCAGAGGAGCAG	0.582													9	156					0	0	0.335167	0	0	G	39150283	C	G	39150283	3	3	183	1	0	0	0	0	1	0	0	0	8591	826	29	4	233	4	KRTAP3-3	17	39150283	Missense_Mutation	SNP	C	TCGA-HC-7749-01A-11D-2114-08	28799921	39150283	42044927	56	8536											
RPTOR	57521	broad.mit.edu	37	chr17	78857260	78857260	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctttcattctcgccgtgatCgtcaacagctatcacacggg	8	11	9	13	4	4	1	3	1	1	0	6	1	4	1	1	1	2	2	1	1	2	3			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr17:78857260C>T	ENST00000306801.3	+	15	1988	c.1626C>T	c.(1624-1626)atC>atT	p.I542I	RPTOR_ENST00000544334.2_Intron|RPTOR_ENST00000575542.1_3'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	542					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						TCGCCGTGATCGTCAACAGCT	0.587													22	52					0	0	0.667858	0	0	T	78857260	C	T	78857260	2	4	183	1	0	0	0	0	0	0	0	1	13717	874	31	1		1	RPTOR	17	78857260	Silent	SNP	C	TCGA-HC-7749-01A-11D-2114-08	39706977	78857260	2337950	57	8537											
NAPG	8774	broad.mit.edu	37	chr18	10540386	10540386	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagcctccagactactagtaCgaggacgtaggtatgtcttt	11	11	10	9	2	1	1	0	0	1	1	2	3	2	2	2	2	3	3	2	2	6	6			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr18:10540386C>G	ENST00000322897.6	+	8	565	c.496C>G	c.(496-498)Cga>Gga	p.R166G	NAPG_ENST00000542979.1_Missense_Mutation_p.R84G	NM_003826.2	NP_003817.1	Q99747	SNAG_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, gamma	166					cellular membrane fusion|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein complex assembly|protein stabilization	membrane|membrane fraction|mitochondrion	protein binding			large_intestine(2)|lung(2)	4						ACTACTAGTACGAGGACGTAG	0.373													17	43					0	0	0.575678	0	0	G	10540386	C	G	10540386	3	3	183	1	0	0	0	0	1	0	0	0	10212	528	19	4	526	4	NAPG	18	10540386	Missense_Mutation	SNP	C	TCGA-HC-7749-01A-11D-2114-08		10540386	67536862	58	8538											
IMPACT	55364	broad.mit.edu	37	chr18	22008832	22008832	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtttttgaacctgcattgtaGgtgatgctgccgaatgaata	10	14	11	6	1	0	3	0	3	0	0	0	4	0	3	2	1	4	4	2	1	5	5			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr18:22008832G>A	ENST00000284202.4	+	3	306		c.e3-1			NM_018439.3	NP_060909.1	Q9P2X3	IMPCT_HUMAN	impact RWD domain protein											endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)					CTGCATTGTAGGTGATGCTGC	0.373													6	50					0	0	0.307466	0	0	A	22008832	G	A	22008832	5	1	183	1	0	0	0	0	0	0	1	0	7768	1014	35	2	175	2	IMPACT	18	22008832	Splice_Site	SNP	G	TCGA-HC-7749-01A-11D-2114-08	11468446	22008832	56068416	59	8539											
LIPG	9388	broad.mit.edu	37	chr18	47110059	47110059	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acaacctgtggaaggagtttCgcagctacctgtctcaaccc	10	9	9	13	1	1	0	1	0	1	0	3	2	1	2	3	2	4	3	3	2	4	2			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr18:47110059C>T	ENST00000261292.4	+	8	1569	c.1291C>T	c.(1291-1293)Cgc>Tgc	p.R431C	LIPG_ENST00000427224.2_Missense_Mutation_p.R357C	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	431	PLAT.				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity	p.R431C(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						GAAGGAGTTTCGCAGCTACCT	0.592													9	45					0	0	0.361761	0	0	T	47110059	C	T	47110059	3	4	183	1	0	0	0	0	1	0	0	0	8864	884	31	1	1321	1	LIPG	18	47110059	Missense_Mutation	SNP	C	TCGA-HC-7749-01A-11D-2114-08	25101227	47110059	30967189	60	8540											
ZNF317	57693	broad.mit.edu	37	chr19	9271565	9271565	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catgaggattcacatcgtcaAgaaacccgtggaatgtcggc	12	8	11	10	3	2	2	2	1	0	1	4	4	2	4	1	3	1	0	1	3	3	1			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr19:9271565A>G	ENST00000247956.6	+	7	1549	c.1244A>G	c.(1243-1245)aAg>aGg	p.K415R	ZNF317_ENST00000360385.3_Missense_Mutation_p.K383R	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	415					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						CACATCGTCAAGAAACCCGTG	0.502													24	42					0	0	0.729181	0	0	G	9271565	A	G	9271565	3	3	183	1	0	0	0	0	1	0	0	0	17892	72	3	3	1266	3	ZNF317	19	9271565	Missense_Mutation	SNP	A	TCGA-HC-7749-01A-11D-2114-08		9271565	49857418	61	8541											
MAST1	22983	broad.mit.edu	37	chr19	12978320	12978320	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggagcagctgtcgcagcaCgagcccaagaccccagtagc	11	4	12	14	2	0	1	0	0	0	1	1	3	0	2	3	1	5	5	3	1	2	1			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr19:12978320C>T	ENST00000251472.4	+	19	2211	c.2172C>T	c.(2170-2172)caC>caT	p.H724H		NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	724					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						TGTCGCAGCACGAGCCCAAGA	0.652													5	126					0	0	0.217242	0	0	T	12978320	C	T	12978320	2	4	183	1	0	0	0	0	0	0	0	1	9374	535	19	1		1	MAST1	19	12978320	Silent	SNP	C	TCGA-HC-7749-01A-11D-2114-08	3706755	12978320	46150663	62	8542											
IFI30	10437	broad.mit.edu	37	chr19	18285887	18285887	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgggggcccctgaagaagtCcaatgcaccgcttgtcaatg	9	7	13	12	2	1	2	1	1	0	1	2	2	2	2	4	2	1	2	4	2	4	1			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr19:18285887C>A	ENST00000407280.2	+	2	238	c.170C>A	c.(169-171)tCc>tAc	p.S57Y	PIK3R2_ENST00000593731.1_3'UTR	NM_006332.3	NP_006323.2	P13284	GILT_HUMAN	interferon, gamma-inducible protein 30	57					antigen processing and presentation of exogenous peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway	cell junction|extracellular region|lysosome	oxidoreductase activity, acting on a sulfur group of donors			endometrium(1)|kidney(2)|large_intestine(1)|stomach(1)	5						CTGAAGAAGTCCAATGCACCG	0.582													13	31					0.00185496	0.00195801	0.435327	1	0	A	18285887	C	A	18285887	3	1	183	1	0	0	0	0	1	0	0	0	7559	855	30	4	176	4	IFI30	19	18285887	Missense_Mutation	SNP	C	TCGA-HC-7749-01A-11D-2114-08	5307567	18285887	40843096	63	8543											
ZNF208	7757	broad.mit.edu	37	chr19	22155036	22155036	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcatgagttttcttatgttTactaaagactgacaaccagc	13	13	7	8	0	1	3	0	2	1	1	1	3	1	3	1	0	4	3	1	0	5	6			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr19:22155036T>C	ENST00000397126.4	-	4	2948	c.2800A>G	c.(2800-2802)Aaa>Gaa	p.K934E	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTCTTATGTTTACTAAAGACT	0.378													6	38					0	0	0.217242	0	0	C	22155036	T	C	22155036	3	2	183	1	0	0	0	0	1	0	0	0	17824	1763	61	3	1046	3	ZNF208	19	22155036	Missense_Mutation	SNP	T	TCGA-HC-7749-01A-11D-2114-08	3869149	22155036	36973947	64	8544											
TRIM28	10155	broad.mit.edu	37	chr19	59059687	59059687	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttccagctgcaccgggccctCaagatgattgtggatcccgt	7	10	11	13	2	1	2	1	1	0	1	3	3	3	3	4	2	2	2	4	2	1	2			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr19:59059687C>G	ENST00000253024.5	+	8	1417	c.1128C>G	c.(1126-1128)ctC>ctG	p.L376L	TRIM28_ENST00000341753.6_Silent_p.L294L	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	376	Leucine zipper alpha helical coiled-coil region.|RBCC domain.				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		ACCGGGCCCTCAAGATGATTG	0.542													3	88					0	0	0.184627	0	0	G	59059687	C	G	59059687	2	3	183	1	0	0	0	0	0	0	0	1	16563	813	29	4		4	TRIM28	19	59059687	Silent	SNP	C	TCGA-HC-7749-01A-11D-2114-08	36904651	59059687	69296	65	8545											
CYYR1	116159	broad.mit.edu	37	chr21	27945368	27945368	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcgctcctgagagccgggtGgagcagagacccggccattg	8	5	16	12	3	0	2	0	1	0	2	1	5	1	3	4	3	3	2	4	3	0	1			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr21:27945368G>A	ENST00000435845.2	-	1	235	c.216C>T	c.(214-216)tcC>tcT	p.S72S	CYYR1_ENST00000400043.3_5'UTR|CYYR1_ENST00000299340.4_5'UTR			Q96J86	CYYR1_HUMAN	cysteine/tyrosine-rich 1	0						integral to membrane				large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						AGAGCCGGGTGGAGCAGAGAC	0.716													2	3					0	0	0.115264	0	0	A	27945368	G	A	27945368	2	1	183	1	0	0	0	0	0	0	0	1	4234	1363	47	2		2	CYYR1	21	27945368	Silent	SNP	G	TCGA-HC-7749-01A-11D-2114-08		27945368	20184527	66	8546											
KRTAP6-2	337967	broad.mit.edu	37	chr21	31971188	31971188	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagtttccgtagtagctgccGcacatcgtgatggttgtgga	7	13	13	8	3	0	1	0	1	0	0	2	2	1	2	2	2	2	6	2	2	3	5			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr21:31971188G>C	ENST00000334897.3	-	1	31	c.6C>G	c.(4-6)tgC>tgG	p.C2W		NM_181604.1	NP_853635.1	Q3LI66	KRA62_HUMAN	keratin associated protein 6-2	2						intermediate filament		p.C2C(2)		endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11						AGTAGCTGCCGCACATCGTGA	0.512													11	82					0	0	0.479597	0	0	C	31971188	G	C	31971188	3	2	183	1	0	0	0	0	1	0	0	0	8609	1079	38	4	185	4	KRTAP6-2	21	31971188	Missense_Mutation	SNP	G	TCGA-HC-7749-01A-11D-2114-08	4025820	31971188	16158707	67	8547											
TIAM1	7074	broad.mit.edu	37	chr21	32639279	32639279	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctacatgttgactttctgCgtttcccatggttttatggt	5	19	8	9	1	2	1	0	1	2	0	3	1	3	1	1	2	2	3	1	2	2	6			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr21:32639279C>T	ENST00000286827.3	-	5	481	c.10G>A	c.(10-12)Gca>Aca	p.A4T	TIAM1_ENST00000469412.1_Intron|TIAM1_ENST00000541036.1_Missense_Mutation_p.A4T	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	4					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TGACTTTCTGCGTTTCCCATG	0.527													19	49					0	0	0.639603	0	0	T	32639279	C	T	32639279	3	4	183	1	0	0	0	0	1	0	0	0	15950	768	27	1	4865	1	TIAM1	21	32639279	Missense_Mutation	SNP	C	TCGA-HC-7749-01A-11D-2114-08	668091	32639279	15490616	68	8548											
DNMT3L	29947	broad.mit.edu	37	chr21	45679320	45679320	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcaggcccctcgcctcacCgggtgcaatcagggtttccg	5	7	14	15	3	2	0	2	0	0	0	4	0	3	0	5	4	1	3	5	4	1	1			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr21:45679320C>T	ENST00000270172.3	-	5	827	c.344_splice	c.e5+1	p.R115_splice	DNMT3L_ENST00000418993.1_Splice_Site_p.R115_splice	NM_013369.3	NP_037501.2	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like	115	ADD.				DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		CTCGCCTCACCGGGTGCAATC	0.587													18	63					0	0	0.592651	0	0	T	45679320	C	T	45679320	5	4	183	1	0	0	0	0	0	0	1	0	4705	666	23	1	851	1	DNMT3L	21	45679320	Splice_Site	SNP	C	TCGA-HC-7749-01A-11D-2114-08	13040041	45679320	2450575	69	8549											
MORC2	22880	broad.mit.edu	37	chr22	31346413	31346413	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcaaagcataaatcctcctCgaaggtcctctcgtctttct	10	12	6	13	2	3	0	0	0	3	0	8	1	6	0	3	1	2	2	3	1	4	2			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr22:31346413C>T	ENST00000397641.2	-	4	584	c.176G>A	c.(175-177)cGa>cAa	p.R59Q	MORC2_ENST00000215862.4_5'UTR			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	59							ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						AAATCCTCCTCGAAGGTCCTC	0.488													6	39					0	0	0.248553	0	0	T	31346413	C	T	31346413	3	4	183	1	0	0	0	0	1	0	0	0	9751	899	31	1		1	MORC2	22	31346413	Missense_Mutation	SNP	C	TCGA-HC-7749-01A-11D-2114-08		31346413	19958153	70	8550											
NCF4	4689	broad.mit.edu	37	chr22	37271705	37271705	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctctgcagggcactgtccGgggagccacgggcatcttcc	5	8	13	15	2	2	0	0	0	2	0	5	1	5	1	4	4	2	3	4	4	0	1			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chr22:37271705G>A	ENST00000397147.4	+	8	822	c.638G>A	c.(637-639)cGg>cAg	p.R213Q	NCF4_ENST00000248899.6_Missense_Mutation_p.R213Q	NM_013416.3	NP_038202.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa	213	SH3.				cell communication|immune response|oxidation-reduction process	cytosol|NADPH oxidase complex	phosphatidylinositol binding|protein dimerization activity			cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						GGCACTGTCCGGGGAGCCACG	0.602													5	89					0	0	0.248553	0	0	A	37271705	G	A	37271705	3	1	183	1	0	0	0	0	1	0	0	0	10265	1116	39	1	668	1	NCF4	22	37271705	Missense_Mutation	SNP	G	TCGA-HC-7749-01A-11D-2114-08	5925292	37271705	14032861	71	8551											
FAM47C	442444	broad.mit.edu	37	chrX	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctccgcccggagcctcccAatactggagtgtcccatctc	6	9	9	17	2	2	0	0	0	2	0	6	2	4	2	5	2	2	0	5	2	2	1	rs145580328	byFrequency	TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642													3	77					0	0	0.115264	0	0	G	37028425	A	G	37028425	3	3	183	1	0	0	0	0	1	0	0	0	5607	130	5	3	1944	3	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-HC-7749-01A-11D-2114-08		37028425	118242135	72	8552											
OR13H1	347468	broad.mit.edu	37	chrX	130678204	130678204	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctttcttattcactttgacCccaacctccacactccaatc	9	14	1	17	0	3	1	1	1	2	0	6	1	5	1	5	0	1	0	5	0	3	4			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chrX:130678204C>T	ENST00000338616.3	+	1	255	c.157C>T	c.(157-159)Ccc>Tcc	p.P53S		NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H, member 1	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					TCACTTTGACCCCAACCTCCA	0.413													70	49					0	0	0.870114	0	0	T	130678204	C	T	130678204	3	4	183	1	0	0	0	0	1	0	0	0	10991	623	22	2	159	2	OR13H1	23	130678204	Missense_Mutation	SNP	C	TCGA-HC-7749-01A-11D-2114-08	93649779	130678204	24592356	73	8553											
SLITRK4	139065	broad.mit.edu	37	chrX	142718314	142718314	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagttgcaattcaacgacaCggccaatgtgttccagaacc	12	8	8	13	2	1	1	1	0	0	1	2	2	2	1	4	1	3	3	4	1	4	3			TCGA-HC-7749-01A-11D-2114-08	TCGA-HC-7749-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2bc4dea1-1dc2-4e7f-931b-4634ab147d2d	5281e78d-70d2-4c86-9c6f-9f73b6a45b9e	g.chrX:142718314C>G	ENST00000381779.4	-	2	836	c.611G>C	c.(610-612)cGt>cCt	p.R204P	SLITRK4_ENST00000338017.4_Missense_Mutation_p.R204P|SLITRK4_ENST00000356928.1_Missense_Mutation_p.R204P	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	204						integral to membrane		p.R204H(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TTCAACGACACGGCCAATGTG	0.428													34	24					0	0	0.827153	0	0	G	142718314	C	G	142718314	3	3	183	1	0	0	0	0	1	0	0	0	14799	536	19	4	1906	4	SLITRK4	23	142718314	Missense_Mutation	SNP	C	TCGA-HC-7749-01A-11D-2114-08	12040110	142718314	12552246	74	8554											
AADACL4	343066	broad.mit.edu	37	chr1	12726522	12726522	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagcagatgatgaggtcatcGctcagcttcctgaggccttc	8	11	11	11	1	2	4	2	3	0	1	5	4	3	4	2	2	2	3	2	2	1	3			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr1:12726522G>A	ENST00000376221.1	+	4	1000	c.1000G>A	c.(1000-1002)Gct>Act	p.A334T		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	334						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		TGAGGTCATCGCTCAGCTTCC	0.517													5	126					0	0	1	0	0	A	12726522	G	A	12726522	3	1	184	1	0	0	0	0	1	0	0	0	13	1087	38	1	1014	1	AADACL4	1	12726522	Missense_Mutation	SNP	G	TCGA-HC-7750-01A-11D-2114-08		12726522	236524099	1	8555											
EPHA8	2046	broad.mit.edu	37	chr1	22924681	22924681	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgactgagtacatggagaaCggctctctggacaccttcct	9	10	11	11	1	1	3	0	2	1	1	3	5	2	4	2	3	2	2	2	3	2	2			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr1:22924681C>T	ENST00000166244.3	+	12	2226	c.2154C>T	c.(2152-2154)aaC>aaT	p.N718N		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	718	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		ACATGGAGAACGGCTCTCTGG	0.617													4	137					0	0	1	0	0	T	22924681	C	T	22924681	2	4	184	1	0	0	0	0	0	0	0	1	5201	535	19	1		1	EPHA8	1	22924681	Silent	SNP	C	TCGA-HC-7750-01A-11D-2114-08	10198159	22924681	226325940	2	8556											
SMPDL3B	27293	broad.mit.edu	37	chr1	28282306	28282306	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggtggtccggaagcatcatCgcgtcatagcagggcagttc	9	8	14	10	3	2	0	2	0	0	0	5	1	3	1	1	4	2	4	1	4	2	2			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr1:28282306C>T	ENST00000373894.3	+	6	993	c.802C>T	c.(802-804)Cgc>Tgc	p.R268C	RP11-460I13.2_ENST00000448015.1_RNA|SMPDL3B_ENST00000373888.4_Missense_Mutation_p.R268C|SMPDL3B_ENST00000549094.1_Missense_Mutation_p.R220C	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN	sphingomyelin phosphodiesterase, acid-like 3B	268					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		GAAGCATCATCGCGTCATAGC	0.562													4	68					0	0	1	0	0	T	28282306	C	T	28282306	3	4	184	1	0	0	0	0	1	0	0	0	14863	884	31	1	824	1	SMPDL3B	1	28282306	Missense_Mutation	SNP	C	TCGA-HC-7750-01A-11D-2114-08	5357625	28282306	220968315	3	8557											
CAP1	10487	broad.mit.edu	37	chr1	40535451	40535451	+	Frame_Shift_Del	DEL	T	T	-																															tacgcagtggccccaaaccaTtctctgcacctaaaccccaa																										TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr1:40535451delT	ENST00000372797.3	+	9	1459	c.898delT	c.(898-900)tcfs	p.F300fs	CAP1_ENST00000372798.1_Frame_Shift_Del_p.F299fs|CAP1_ENST00000372805.3_Frame_Shift_Del_p.F300fs|CAP1_ENST00000372802.1_Frame_Shift_Del_p.F299fs|CAP1_ENST00000479759.1_3'UTR|CAP1_ENST00000340450.3_Frame_Shift_Del_p.F299fs|CAP1_ENST00000372792.2_Frame_Shift_Del_p.F300fs	NM_001105530.1|NM_006367.3	NP_001099000.1|NP_006358.1	Q01518	CAP1_HUMAN	CAP, adenylate cyclase-associated protein 1 (yeast)	300					activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction	plasma membrane	actin binding			endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCCCAAACCATTCTCTGCACC	0.527													19	101	---	---	---	---						-	40535451	T	-	40535451	7	5	184	1	0	1	0	1	0	0	0	0	2637	1493	52	0	928	0	CAP1	1	40535451	Frame_Shift_Del	DEL	T	TCGA-HC-7750-01A-11D-2114-08	12253145	40535451	208715170	4	8558											
C1orf227	149643	broad.mit.edu	37	chr1	213009355	213009355	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccgggaagtgcctcttttgaActctcagtaagctgacttga	9	12	10	10	1	2	3	1	3	2	0	3	4	2	4	2	1	3	2	2	1	3	4			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr1:213009355A>G	ENST00000332912.3	-	2	244	c.137T>C	c.(136-138)gTt>gCt	p.V46A		NM_001024601.2	NP_001019772.1	Q537H7	CA227_HUMAN	chromosome 1 open reading frame 227	46										kidney(1)|large_intestine(1)|lung(1)	3						CCTCTTTTGAACTCTCAGTAA	0.468													22	130					0	0	1	0	0	G	213009355	A	G	213009355	3	3	184	1	0	0	0	0	1	0	0	0	2047	43	2	3	167	3	C1orf227	1	213009355	Missense_Mutation	SNP	A	TCGA-HC-7750-01A-11D-2114-08	172473904	213009355	36241266	5	8559											
TRMT61B	55006	broad.mit.edu	37	chr2	29074004	29074004	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgagaatctagttgtacatCtgtgttgattttagattcta	10	19	8	4	0	3	3	0	2	3	2	3	4	3	3	0	0	1	3	0	0	5	9			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr2:29074004C>T	ENST00000306108.5	-	5	1269	c.1246G>A	c.(1246-1248)Gat>Aat	p.D416N		NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)	416							tRNA (adenine-N1-)-methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						AGTTGTACATCTGTGTTGATT	0.358													4	43					0	0	1	0	0	T	29074004	C	T	29074004	3	4	184	1	0	0	0	0	1	0	0	0	16631	913	32	2	199	2	TRMT61B	2	29074004	Missense_Mutation	SNP	C	TCGA-HC-7750-01A-11D-2114-08		29074004	214125369	6	8560											
EIF2AK3	9451	broad.mit.edu	37	chr2	88887559	88887559	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcttcatgagaaaacttaTcattactgagacatttgtca	14	15	5	7	0	4	2	3	2	1	2	4	4	4	2	0	0	2	0	0	0	4	5			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr2:88887559T>C	ENST00000303236.3	-	8	1671	c.1370A>G	c.(1369-1371)gAt>gGt	p.D457G	EIF2AK3_ENST00000419748.1_Missense_Mutation_p.D306G	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	457					activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding	p.D457G(1)		ovary(3)	3						AGAAAACTTATCATTACTGAG	0.264													5	91					0	0	1	0	0	C	88887559	T	C	88887559	3	2	184	1	0	0	0	0	1	0	0	0	5024	1435	50	3	2020	3	EIF2AK3	2	88887559	Missense_Mutation	SNP	T	TCGA-HC-7750-01A-11D-2114-08	59813555	88887559	154311814	7	8561											
CCR2	729230	broad.mit.edu	37	chr3	46399500	46399500	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctttggggtggtgacaaGtgtgatcacctggttggtgg	6	12	16	7	0	1	2	1	2	0	0	1	2	1	2	2	6	0	1	2	6	1	2			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr3:46399500G>T	ENST00000292301.4	+	2	967	c.482G>T	c.(481-483)aGt>aTt	p.S161I	CCR2_ENST00000400888.2_Missense_Mutation_p.S161I|CCR2_ENST00000465202.1_Intron|CCR2_ENST00000445132.2_Missense_Mutation_p.S161I	NM_001123041.2	NP_001116513.2	P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	161					astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		GTGGTGACAAGTGTGATCACC	0.443													5	253					3.59834e-05	3.79461e-05	1	1	0	T	46399500	G	T	46399500	3	4	184	1	0	0	0	0	1	0	0	0	2963	1029	36	4	484	4	CCR2	3	46399500	Missense_Mutation	SNP	G	TCGA-HC-7750-01A-11D-2114-08		46399500	151622930	8	8562											
GPR150	285601	broad.mit.edu	37	chr5	94956112	94956112	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgcccagccgccgcgtcCgcctggtgttcctgggggtc	1	7	16	17	5	0	0	0	0	0	0	3	0	2	0	7	4	1	1	7	4	0	1			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr5:94956112C>G	ENST00000380007.2	+	1	331	c.133C>G	c.(133-135)Cgc>Ggc	p.R45G		NM_199243.1	NP_954713.1	Q8NGU9	GP150_HUMAN	G protein-coupled receptor 150	45						integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(2)	2		all_cancers(142;0.000462)|all_epithelial(76;2.44e-06)|all_lung(232;0.0318)|Lung NSC(167;0.041)|Ovarian(225;0.051)		all cancers(79;1.82e-16)		CCGCCGCGTCCGCCTGGTGTT	0.726													6	25					0	0	1	0	0	G	94956112	C	G	94956112	3	3	184	1	0	0	0	0	1	0	0	0	6696	652	23	4	135	4	GPR150	5	94956112	Missense_Mutation	SNP	C	TCGA-HC-7750-01A-11D-2114-08		94956112	85959148	9	8563											
ZNF608	57507	broad.mit.edu	37	chr5	123980084	123980084	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacagccactcttgttccccGagagtccttccagttcacag	8	10	8	15	1	2	1	1	0	1	1	5	3	5	1	5	0	1	2	5	0	0	4			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr5:123980084G>A	ENST00000306315.5	-	5	4411	c.3976C>T	c.(3976-3978)Cgg>Tgg	p.R1326W	ZNF608_ENST00000504926.1_Missense_Mutation_p.R899W	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1326						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		CTTGTTCCCCGAGAGTCCTTC	0.493													4	125					0	0	1	0	0	A	123980084	G	A	123980084	3	1	184	1	0	0	0	0	1	0	0	0	18091	1057	37	1	582	1	ZNF608	5	123980084	Missense_Mutation	SNP	G	TCGA-HC-7750-01A-11D-2114-08	29023972	123980084	56935176	10	8564											
FAT2	2196	broad.mit.edu	37	chr5	150947124	150947124	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ataggaagacctgttgaagaGgggggcatggttgttgcagt	10	10	17	4	0	0	3	0	1	0	2	0	4	0	4	1	5	1	5	1	5	3	4			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr5:150947124G>A	ENST00000261800.5	-	1	1381	c.1369C>T	c.(1369-1371)Ctc>Ttc	p.L457F		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	457	Cadherin 3.				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)			CTGTTGAAGAGGGGGGCATGG	0.552													4	135					0	0	1	0	0	A	150947124	G	A	150947124	3	1	184	1	0	0	0	0	1	0	0	0	5723	1000	35	2	11772	2	FAT2	5	150947124	Missense_Mutation	SNP	G	TCGA-HC-7750-01A-11D-2114-08	26967040	150947124	29968136	11	8565											
HIST1H4B	8366	broad.mit.edu	37	chr6	26027266	26027266	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcttggcgtgctccgtgtagGtcacggcgtcccggatcacg	4	9	15	13	6	2	0	2	0	0	0	4	1	4	1	2	4	1	3	2	4	1	2			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr6:26027266G>A	ENST00000377364.3	-	1	214	c.215C>T	c.(214-216)aCc>aTc	p.T72I		NM_003544.2	NP_003535.1	P62805	H4_HUMAN	histone cluster 1, H4b	72					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						CTCCGTGTAGGTCACGGCGTC	0.557											OREG0017238	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	56					0	0	1	0	0	A	26027266	G	A	26027266	3	1	184	1	0	0	0	0	1	0	0	0	7207	1261	44	2	100	2	HIST1H4B	6	26027266	Missense_Mutation	SNP	G	TCGA-HC-7750-01A-11D-2114-08		26027266	145087801	12	8566											
PLEKHG1	57480	broad.mit.edu	37	chr6	151152162	151152162	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaacagccccaaaacagaaGggcaggaggagatgactccc	16	2	12	11	0	0	4	0	1	0	3	1	6	1	5	3	3	3	1	3	3	4	0			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr6:151152162G>A	ENST00000367328.1	+	16	2227	c.1915G>A	c.(1915-1917)Ggg>Agg	p.G639R	PLEKHG1_ENST00000358517.2_Missense_Mutation_p.G639R	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	639					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		CAAAACAGAAGGGCAGGAGGA	0.473													4	26					0	0	1	0	0	A	151152162	G	A	151152162	3	1	184	1	0	0	0	0	1	0	0	0	12116	1000	35	2	1969	2	PLEKHG1	6	151152162	Missense_Mutation	SNP	G	TCGA-HC-7750-01A-11D-2114-08	125124896	151152162	19962905	13	8567											
C7orf33	202865	broad.mit.edu	37	chr7	148288133	148288133	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggcgccggattgaccttcGcctgagtgggagggcagtcg	7	7	17	10	4	0	2	0	2	0	0	2	4	0	4	3	4	0	1	3	4	1	2			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr7:148288133G>A	ENST00000307003.2	+	1	477	c.116G>A	c.(115-117)cGc>cAc	p.R39H		NM_145304.2	NP_660347.1	Q8WU49	CG033_HUMAN	chromosome 7 open reading frame 33	39										central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2)	14	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			ATTGACCTTCGCCTGAGTGGG	0.557													20	78					0	0	1	0	0	A	148288133	G	A	148288133	3	1	184	1	0	0	0	0	1	0	0	0	2404	1087	38	1	118	1	C7orf33	7	148288133	Missense_Mutation	SNP	G	TCGA-HC-7750-01A-11D-2114-08		148288133	10850530	14	8568											
CYP7A1	1581	broad.mit.edu	37	chr8	59410894	59410894	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaatggacatattttcccAttagtttgcaggtaaaaaca	15	13	7	6	0	0	1	0	1	0	0	1	2	1	2	1	2	2	3	1	2	6	6			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr8:59410894A>G	ENST00000301645.3	-	2	352	c.215T>C	c.(214-216)aTg>aCg	p.M72T		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	72					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				ATATTTTCCCATTAGTTTGCA	0.388									Neonatal Giant Cell Hepatitis				33	134					0	0	1	0	0	G	59410894	A	G	59410894	3	3	184	1	0	0	0	0	1	0	0	0	4219	217	8	3	1319	3	CYP7A1	8	59410894	Missense_Mutation	SNP	A	TCGA-HC-7750-01A-11D-2114-08		59410894	86953128	15	8569											
INVS	27130	broad.mit.edu	37	chr9	103055173	103055173	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtatctaaggagactgaTccagcacctggtcccctctc	9	9	9	14	0	2	2	0	1	2	1	5	3	4	2	4	3	1	2	4	3	2	2			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr9:103055173T>C	ENST00000262457.2	+	14	2819	c.2634T>C	c.(2632-2634)gaT>gaC	p.D878D	INVS_ENST00000262456.2_Intron|INVS_ENST00000541287.1_Silent_p.D782D	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	878					negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				AGGAGACTGATCCAGCACCTG	0.527													3	56					0	0	1	0	0	C	103055173	T	C	103055173	2	2	184	1	0	0	0	0	0	0	0	1	7831	1432	50	3		3	INVS	9	103055173	Silent	SNP	T	TCGA-HC-7750-01A-11D-2114-08		103055173	38158258	16	8570											
MURC	347273	broad.mit.edu	37	chr9	103348314	103348314	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagaattagaactagaataGtgaccccggagaggagagag	17	5	13	6	1	0	6	0	1	0	5	0	9	0	7	2	2	1	0	2	2	6	3			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr9:103348314G>T	ENST00000307584.5	+	2	741	c.676G>T	c.(676-678)Gtg>Ttg	p.V226L		NM_001018116.1	NP_001018126.1	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	226					cell differentiation|muscle organ development|transcription, DNA-dependent					endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16		Acute lymphoblastic leukemia(62;0.0461)				AACTAGAATAGTGACCCCGGA	0.458													5	177					2.0095e-06	2.19907e-06	1	1	0	T	103348314	G	T	103348314	3	4	184	1	0	0	0	0	1	0	0	0	10035	1029	36	4	682	4	MURC	9	103348314	Missense_Mutation	SNP	G	TCGA-HC-7750-01A-11D-2114-08	293141	103348314	37865117	17	8571											
C10orf90	118611	broad.mit.edu	37	chr10	128147783	128147783	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcttacgaacttccagtgCttcctatgcaaagcaaagaa	14	9	8	10	1	0	1	0	0	0	1	2	2	2	1	2	1	5	4	2	1	6	4			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr10:128147783C>T	ENST00000284694.7	-	6	1843	c.1723G>A	c.(1723-1725)Gca>Aca	p.A575T	C10orf90_ENST00000544758.1_Missense_Mutation_p.A672T|C10orf90_ENST00000480379.1_5'UTR|C10orf90_ENST00000356858.3_Missense_Mutation_p.A528T|C10orf90_ENST00000454341.1_Missense_Mutation_p.A478T	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	575										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		ACTTCCAGTGCTTCCTATGCA	0.483													4	72					0	0	1	0	0	T	128147783	C	T	128147783	3	4	184	1	0	0	0	0	1	0	0	0	1627	797	28	2	392	2	C10orf90	10	128147783	Missense_Mutation	SNP	C	TCGA-HC-7750-01A-11D-2114-08		128147783	7386964	18	8572											
USP47	55031	broad.mit.edu	37	chr11	11969590	11969590	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctcacttcaaggtctttCgagtgtatgccagcaatcaa	10	12	7	12	1	4	0	3	0	2	0	6	1	4	0	2	1	2	2	2	1	4	3			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr11:11969590C>A	ENST00000339865.5	+	20	3749	c.2986C>A	c.(2986-2988)Cga>Aga	p.R996R	USP47_ENST00000527733.1_Silent_p.R1064R|USP47_ENST00000399455.2_Silent_p.R1084R|USP47_ENST00000539466.1_5'UTR	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	1084					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding	p.R996*(2)		breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		CAAGGTCTTTCGAGTGTATGC	0.398													3	95					1	1	1	1	0	A	11969590	C	A	11969590	2	1	184	1	0	0	0	0	0	0	0	1	17138	876	31	4		4	USP47	11	11969590	Silent	SNP	C	TCGA-HC-7750-01A-11D-2114-08		11969590	123036926	19	8573											
OR5T3	390154	broad.mit.edu	37	chr11	56020136	56020136	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatggcttatgatcactatgTagccatctacaaccctctcc	11	12	5	13	0	3	1	1	1	2	0	4	1	3	1	3	1	3	2	3	1	6	4			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr11:56020136T>C	ENST00000303059.3	+	1	461	c.461T>C	c.(460-462)gTa>gCa	p.V154A		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					GATCACTATGTAGCCATCTAC	0.423													7	173					0	0	1	0	0	C	56020136	T	C	56020136	3	2	184	1	0	0	0	0	1	0	0	0	11230	1638	57	3	463	3	OR5T3	11	56020136	Missense_Mutation	SNP	T	TCGA-HC-7750-01A-11D-2114-08	44050546	56020136	78986380	20	8574											
OTUB1	55611	broad.mit.edu	37	chr11	63764357	63764357	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgtgtctgccaagagcaagGaagacctggtgtcccagggc	9	7	14	11	0	1	2	0	0	1	2	2	3	2	3	3	3	2	1	3	3	3	0			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr11:63764357G>T	ENST00000538426.1	+	5	411	c.367G>T	c.(367-369)Gaa>Taa	p.E123*	OTUB1_ENST00000535715.1_Nonsense_Mutation_p.E123*|OTUB1_ENST00000543988.1_Nonsense_Mutation_p.E93*|OTUB1_ENST00000541478.1_Intron|OTUB1_ENST00000543004.1_Nonsense_Mutation_p.E132*|OTUB1_ENST00000422031.2_Nonsense_Mutation_p.E160*|OTUB1_ENST00000428192.2_Nonsense_Mutation_p.E123*	NM_017670.2	NP_060140.2	Q96FW1	OTUB1_HUMAN	OTU domain, ubiquitin aldehyde binding 1	123	OTU.				protein K48-linked deubiquitination	cytoplasm	NEDD8-specific protease activity|omega peptidase activity|ubiquitin binding|ubiquitin-specific protease activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	6						CAAGAGCAAGGAAGACCTGGT	0.622													13	42					3.45872e-05	3.71492e-05	1	1	0	T	63764357	G	T	63764357	4	4	184	1	0	0	0	0	0	1	0	0	11358	1175	41	4	385	4	OTUB1	11	63764357	Nonsense_Mutation	SNP	G	TCGA-HC-7750-01A-11D-2114-08	7744221	63764357	71242159	21	8575											
GRIN2A	0	broad.mit.edu	37	chr16	9858484	9858484	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tacatagttattgaggttatCcttctgccggttggccacaa	9	14	9	9	1	1	1	0	1	1	0	2	1	2	1	3	3	2	3	3	3	5	7			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr16:9858484C>A	ENST00000396573.2	-	14	3226	c.2917G>T	c.(2917-2919)Gat>Tat	p.D973Y	GRIN2A_ENST00000535259.1_Missense_Mutation_p.D816Y|GRIN2A_ENST00000562109.1_Missense_Mutation_p.D973Y|GRIN2A_ENST00000330684.3_Missense_Mutation_p.D973Y|GRIN2A_ENST00000404927.2_Missense_Mutation_p.D973Y|GRIN2A_ENST00000396575.2_Missense_Mutation_p.D973Y	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	973					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TTGAGGTTATCCTTCTGCCGG	0.463													12	74					1.08611e-07	1.21143e-07	1	1	0	A	9858484	C	A	9858484	3	1	184	1	0	0	0	0	1	0	0	0	6820	855	30	4	1481	4	GRIN2A	16	9858484	Missense_Mutation	SNP	C	TCGA-HC-7750-01A-11D-2114-08		9858484	80496269	22	8576											
MPP2	4355	broad.mit.edu	37	chr17	41957294	41957294	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcagcctccatctccccacgGgacacaaagctgtaaccctg	10	7	7	17	1	2	0	1	0	1	0	4	1	3	1	5	1	3	2	5	1	2	1			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr17:41957294G>A	ENST00000269095.4	-	11	1513	c.1209C>T	c.(1207-1209)tcC>tcT	p.S403S	MPP2_ENST00000520305.1_Silent_p.S264S|MPP2_ENST00000518766.1_Silent_p.S448S|MPP2_ENST00000377184.3_Silent_p.S420S|MPP2_ENST00000461854.1_Silent_p.S427S|MPP2_ENST00000536246.1_Silent_p.S392S|MPP2_ENST00000523501.1_Silent_p.S392S	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365.3	Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	427	Guanylate kinase-like.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		TCTCCCCACGGGACACAAAGC	0.627											OREG0024443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	114					0	0	1	0	0	A	41957294	G	A	41957294	2	1	184	1	0	0	0	0	0	0	0	1	9783	1219	43	2		2	MPP2	17	41957294	Silent	SNP	G	TCGA-HC-7750-01A-11D-2114-08		41957294	39237916	23	8577											
RAB37	326624	broad.mit.edu	37	chr17	72741504	72741504	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcttccagatccgagactAtgtagagtcccagaagaagc	13	7	10	11	1	0	5	0	0	0	5	3	6	3	5	3	0	2	2	3	0	4	3			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr17:72741504A>G	ENST00000392614.4	+	9	734	c.641A>G	c.(640-642)tAt>tGt	p.Y214C	RAB37_ENST00000392610.1_3'UTR|RAB37_ENST00000528438.1_Missense_Mutation_p.Y182C|RAB37_ENST00000402449.4_Missense_Mutation_p.Y202C|RAB37_ENST00000392615.5_Missense_Mutation_p.Y177C|RAB37_ENST00000340415.3_3'UTR|RAB37_ENST00000392613.5_Missense_Mutation_p.Y209C|RAB37_ENST00000392612.3_Missense_Mutation_p.Y172C	NM_001163989.1	NP_001157461.1	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family	209					protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						ATCCGAGACTATGTAGAGTCC	0.612													4	109					0	0	1	0	0	G	72741504	A	G	72741504	3	3	184	1	0	0	0	0	1	0	0	0	12979	449	16	3	963	3	RAB37	17	72741504	Missense_Mutation	SNP	A	TCGA-HC-7750-01A-11D-2114-08	30784210	72741504	8453706	24	8578											
VAPA	9218	broad.mit.edu	37	chr18	9936196	9936196	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgctccaccaaacacttcaGatatggaagctgtggtaagt	12	11	9	9	0	1	1	1	0	0	1	2	2	2	2	2	2	3	3	2	2	4	4			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr18:9936196G>C	ENST00000400000.2	+	3	577	c.322G>C	c.(322-324)Gat>Cat	p.D108H	VAPA_ENST00000584796.1_3'UTR|VAPA_ENST00000340541.4_Missense_Mutation_p.D108H	NM_003574.5|NM_194434.2	NP_003565.4|NP_919415.2	Q9P0L0	VAPA_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa	108	MSP.				cell death|cellular membrane fusion|neuron projection development|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein localization in endoplasmic reticulum|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane|vesicle	protein heterodimerization activity|signal transducer activity|structural molecule activity			breast(1)|lung(2)|prostate(1)	4						AAACACTTCAGATATGGAAGC	0.348													4	107					0	0	1	0	0	C	9936196	G	C	9936196	3	2	184	1	0	0	0	0	1	0	0	0	17181	942	33	4	332	4	VAPA	18	9936196	Missense_Mutation	SNP	G	TCGA-HC-7750-01A-11D-2114-08		9936196	68141052	25	8579											
PRX	57716	broad.mit.edu	37	chr19	40903197	40903197	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctaaggcggggcatcttcagGgccacctcaggtgcctctcc	6	8	12	15	1	4	0	2	0	2	0	5	0	4	0	4	5	1	1	4	5	1	2			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr19:40903197G>A	ENST00000324001.7	-	7	1332	c.1062C>T	c.(1060-1062)gcC>gcT	p.A354A	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	354					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCATCTTCAGGGCCACCTCAG	0.642													3	70					0	0	1	0	0	A	40903197	G	A	40903197	2	1	184	1	0	0	0	0	0	0	0	1	12691	1219	43	2		2	PRX	19	40903197	Silent	SNP	G	TCGA-HC-7750-01A-11D-2114-08		40903197	18225786	26	8580											
ZNF578	147660	broad.mit.edu	37	chr19	53014565	53014565	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccatcgtagatgtcacactGgtgagaaaccttacaagtgt	12	10	10	9	1	1	2	1	1	0	2	2	3	1	2	2	1	2	1	2	1	4	2			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr19:53014565G>A	ENST00000421239.2	+	6	1175	c.931G>A	c.(931-933)Ggt>Agt	p.G311S	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	86					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		ATGTCACACTGGTGAGAAACC	0.418													3	84					0	0	1	0	0	A	53014565	G	A	53014565	3	1	184	1	0	0	0	0	1	0	0	0	18067	1348	47	2	941	2	ZNF578	19	53014565	Missense_Mutation	SNP	G	TCGA-HC-7750-01A-11D-2114-08	12111368	53014565	6114418	27	8581											
OSCAR	126014	broad.mit.edu	37	chr19	54600296	54600296	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagctcggaggacacatcccGgaagagaaggggagcgatct	12	4	15	10	3	1	1	0	0	1	1	3	7	2	5	1	5	2	1	1	5	2	0			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr19:54600296G>A	ENST00000284648.6	-	4	423	c.226C>T	c.(226-228)Cgg>Tgg	p.R76W	OSCAR_ENST00000391761.1_Missense_Mutation_p.R65W|OSCAR_ENST00000359649.4_Missense_Mutation_p.R80W|OSCAR_ENST00000351806.4_Missense_Mutation_p.R65W|OSCAR_ENST00000391760.1_Intron|OSCAR_ENST00000356532.3_Missense_Mutation_p.R80W|OSCAR_ENST00000358375.4_Missense_Mutation_p.R76W			Q8IYS5	OSCAR_HUMAN	osteoclast associated, immunoglobulin-like receptor	76	Ig-like 1.					extracellular region|integral to membrane|plasma membrane	receptor activity			large_intestine(1)|skin(1)	2	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)					GACACATCCCGGAAGAGAAGG	0.597													3	85					0	0	1	0	0	A	54600296	G	A	54600296	3	1	184	1	0	0	0	0	1	0	0	0	11332	1115	39	1	771	1	OSCAR	19	54600296	Missense_Mutation	SNP	G	TCGA-HC-7750-01A-11D-2114-08	1585731	54600296	4528687	28	8582											
ZIM2	23619	broad.mit.edu	37	chr19	57301240	57301240	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaggaaagcctgactcacCtgggacccagcagatggcag	12	4	13	12	0	1	3	1	1	0	2	1	5	1	5	3	3	2	2	3	3	1	0			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr19:57301240C>T	ENST00000391708.3	-	9	1019	c.477_splice	c.e9+1	p.Q159_splice	AC006115.3_ENST00000595954.1_RNA|AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000599935.1_Splice_Site_p.Q159_splice|ZIM2_ENST00000221722.5_Splice_Site_p.Q159_splice|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000601070.1_Splice_Site_p.Q159_splice|ZIM2_ENST00000593711.1_Splice_Site_p.Q159_splice	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1			zinc finger, imprinted 2											NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		CCTGACTCACCTGGGACCCAG	0.433													4	20					0	0	1	0	0	T	57301240	C	T	57301240	5	4	184	1	0	0	0	0	0	0	1	0	17742	695	24	2	1122	2	ZIM2	19	57301240	Splice_Site	SNP	C	TCGA-HC-7750-01A-11D-2114-08	2700944	57301240	1827743	29	8583											
TM9SF4	9777	broad.mit.edu	37	chr20	30729618	30729618	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctggagctctactccaacCgagacagcgatgacaagaag	13	5	12	11	2	1	3	0	1	1	2	2	6	2	4	2	2	4	2	2	2	4	1			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr20:30729618C>A	ENST00000217315.5	+	5	737	c.397C>A	c.(397-399)Cga>Aga	p.R133R	TM9SF4_ENST00000398022.2_Silent_p.R150R			Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	150						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CTACTCCAACCGAGACAGCGA	0.562													4	138					0.150653	0.156034	1	1	0	A	30729618	C	A	30729618	2	1	184	1	0	0	0	0	0	0	0	1	16040	644	23	4		4	TM9SF4	20	30729618	Silent	SNP	C	TCGA-HC-7750-01A-11D-2114-08		30729618	32295902	30	8584											
BAGE2	85319	broad.mit.edu	37	chr21	11038909	11038909	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aagtctgaagaaggtgttggGgaggaagacacatctgcctt	12	9	14	6	0	2	3	0	1	2	2	2	5	2	5	1	4	1	1	1	4	4	2	rs28473122	by1000genomes	TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr21:11038909G>T	ENST00000470054.1	-	0	1294									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)		AAGGTGTTGGGGAGGAAGACA	0.423													36	468					4.64027e-19	5.27716e-19	1	1	0	T	11038909	G	T	11038909	1	4	184	0	1	0	0	0	0	0	0	0	1290	1247	43	4		4	BAGE2	21	11038909	RNA	SNP	G	TCGA-HC-7750-01A-11D-2114-08		11038909	37090986	31	8585											
BAGE2	85319	broad.mit.edu	37	chr21	11058353	11058353	+	RNA	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtaaaggagagaaatctcttTataaaaccttgaaaaggaat	19	10	8	4	0	1	2	0	1	1	1	2	5	1	4	1	2	1	1	1	2	9	5	rs79433933	by1000genomes	TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chr21:11058353T>C	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)		GAAATCTCTTTATAAAACCTT	0.343													10	102					0	0	1	0	0	C	11058353	T	C	11058353	1	2	184	0	1	0	0	0	0	0	0	0	1290	1769	61	3		3	BAGE2	21	11058353	RNA	SNP	T	TCGA-HC-7750-01A-11D-2114-08	19444	11058353	37071542	32	8586											
MORF4L2	9643	broad.mit.edu	37	chrX	102931635	102931635	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctcctcactttcaacagtGgggtctgcccgggccctttt	4	12	10	15	1	3	0	2	0	1	0	4	0	4	0	4	3	2	0	4	3	1	3			TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chrX:102931635G>A	ENST00000423833.2	-	3	1546	c.321C>T	c.(319-321)ccC>ccT	p.P107P	MORF4L2_ENST00000492116.1_5'UTR|MORF4L2_ENST00000451301.1_Silent_p.P107P|MORF4L2_ENST00000433176.2_Silent_p.P107P|MORF4L2_ENST00000372620.1_5'UTR|MORF4L2_ENST00000422154.2_Silent_p.P107P|MORF4L2_ENST00000441076.2_Silent_p.P107P|MORF4L2_ENST00000360458.1_Silent_p.P107P			Q15014	MO4L2_HUMAN	mortality factor 4 like 2	107					chromatin modification|DNA repair|regulation of cell growth|transcription, DNA-dependent	nucleolus	protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						TTTCAACAGTGGGGTCTGCCC	0.493													4	81					0	0	1	0	0	A	102931635	G	A	102931635	2	1	184	1	0	0	0	0	0	0	0	1	9756	1335	47	2		2	MORF4L2	23	102931635	Silent	SNP	G	TCGA-HC-7750-01A-11D-2114-08		102931635	52338925	33	8587											
AMMECR1	9949	broad.mit.edu	37	chrX	109561058	109561060	+	In_Frame_Del	DEL	CCG	CCG	-																															gtggcgacagggcgatccccCcgccgccgccgccgcagccc																										TCGA-HC-7750-01A-11D-2114-08	TCGA-HC-7750-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56f5e8ae-b53a-4a02-9e21-a2a03f384dc5	64835121-88ee-417e-b978-5e0eafc615b8	g.chrX:109561058_109561060delCCG	ENST00000262844.5	-	1	407_409	c.240_242delCGG	c.(238-243)ggg>gg	p.GG80del	AMMECR1_ENST00000372059.2_In_Frame_Del_p.GG80del|AMMECR1_ENST00000372057.1_5'UTR	NM_015365.2	NP_056180.1	Q9Y4X0	AMER1_HUMAN	Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1	80	Gly/Ser-rich.									large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						GGCGATCCCCCCGCCGCCGCCGC	0.734													2	4	---	---	---	---						-	109561060	CCG	-	109561058	7	5	184	1	0	1	0	1	0	0	0	0	574	623	22	0	783	0	AMMECR1	23	109561058	In_Frame_Del	DEL	CCG	TCGA-HC-7750-01A-11D-2114-08	6629423	109561058	45709502	34	8588											
C1orf173	127254	broad.mit.edu	37	chr1	75072309	75072309	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttttaaagtattttcctggtCgtcttccaagacttcttgtc	7	19	6	9	1	2	1	0	0	2	1	6	1	4	1	2	1	0	1	2	1	4	8			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr1:75072309C>T	ENST00000326665.5	-	10	1683	c.1465G>A	c.(1465-1467)Gac>Aac	p.D489N	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.D292N	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	489	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TTTTCCTGGTCGTCTTCCAAG	0.358													32	50					0	0	1	0	0	T	75072309	C	T	75072309	3	4	185	1	0	0	0	0	1	0	0	0	2027	884	31	1	3147	1	C1orf173	1	75072309	Missense_Mutation	SNP	C	TCGA-HC-7752-01A-11D-2114-08		75072309	174178312	1	8589											
RPL5	6125	broad.mit.edu	37	chr1	93300426	93300426	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgtgaaggttggcctgacaAattatgctgcagcatattgt	10	13	12	6	0	0	2	0	2	0	0	0	2	0	2	1	2	3	4	1	2	4	4			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr1:93300426A>G	ENST00000370321.3	+	4	370	c.280A>G	c.(280-282)Aat>Gat	p.N94D		NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5	94					endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		TGGCCTGACAAATTATGCTGC	0.453													5	155					0	0	1	0	0	G	93300426	A	G	93300426	3	3	185	1	0	0	0	0	1	0	0	0	13649	14	1	3	294	3	RPL5	1	93300426	Missense_Mutation	SNP	A	TCGA-HC-7752-01A-11D-2114-08	18228117	93300426	155950195	2	8590											
S100A3	6274	broad.mit.edu	37	chr1	153520902	153520902	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatttgtccccacagcgcccTgcgtattcctggaaggtgca	7	11	10	13	2	0	0	0	0	0	0	2	1	2	1	4	2	3	2	4	2	3	4			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr1:153520902T>G	ENST00000368713.3	-	2	256	c.60A>C	c.(58-60)gcA>gcC	p.A20A	S100A4_ENST00000368714.1_Intron|S100A3_ENST00000368712.1_Silent_p.A20A	NM_002960.1	NP_002951.1	P33764	S10A3_HUMAN	S100 calcium binding protein A3	20	EF-hand 1.						calcium ion binding|protein binding			breast(1)|liver(1)|lung(1)	3	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACAGCGCCCTGCGTATTCCT	0.612													15	189					0	0	1	0	0	G	153520902	T	G	153520902	2	3	185	1	0	0	0	0	0	0	0	1	13831	1567	55	5		5	S100A3	1	153520902	Silent	SNP	T	TCGA-HC-7752-01A-11D-2114-08	60220476	153520902	95729719	3	8591											
SCTR	6344	broad.mit.edu	37	chr2	120223462	120223462	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcttcagcaggtaggagtGctgcagagagaggcacgtgt	10	7	16	8	1	1	2	1	0	0	2	1	4	1	3	0	3	4	6	0	3	1	2			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr2:120223462G>A	ENST00000019103.5	-	5	673	c.405_splice	c.e5-1	p.H136_splice		NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor	136					digestion|excretion	integral to plasma membrane	secretin receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	AGGTAGGAGTGCTGCAGAGAG	0.622													3	41					0	0	1	0	0	A	120223462	G	A	120223462	5	1	185	1	0	0	0	0	0	0	1	0	13997	1333	46	2	952	2	SCTR	2	120223462	Splice_Site	SNP	G	TCGA-HC-7752-01A-11D-2114-08		120223462	122975911	4	8592											
PPIG	9360	broad.mit.edu	37	chr2	170493494	170493494	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggacagaagcagaagagtgCgatcaagaacccatgacaga	17	3	13	8	1	1	6	1	1	0	5	1	8	1	7	1	1	3	1	1	1	4	0			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr2:170493494C>T	ENST00000260970.3	+	14	1946	c.1726C>T	c.(1726-1728)Cga>Tga	p.R576*	PPIG_ENST00000448752.2_Nonsense_Mutation_p.R576*|PPIG_ENST00000409714.3_Nonsense_Mutation_p.R561*	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	576	Arg/Ser-rich (RS domain).				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	p.R576*(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	CAGAAGAGTGCGATCAAGAAC	0.448													3	47					0	0	1	0	0	T	170493494	C	T	170493494	4	4	185	1	0	0	0	0	0	1	0	0	12373	760	27	1	1772	1	PPIG	2	170493494	Nonsense_Mutation	SNP	C	TCGA-HC-7752-01A-11D-2114-08	50270032	170493494	72705879	5	8593											
ZDBF2	57683	broad.mit.edu	37	chr2	207170677	207170677	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttaaagaaataagtcttcaGaatgcaaggcatattagcct	16	11	8	6	0	2	2	1	0	1	2	2	2	2	2	1	1	2	3	1	1	8	5			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr2:207170677G>T	ENST00000374423.3	+	5	1811	c.1425G>T	c.(1423-1425)caG>caT	p.Q475H		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	475							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TAAGTCTTCAGAATGCAAGGC	0.348													6	15					0.00116845	0.0012808	1	1	0	T	207170677	G	T	207170677	3	4	185	1	0	0	0	0	1	0	0	0	17657	933	33	4	1435	4	ZDBF2	2	207170677	Missense_Mutation	SNP	G	TCGA-HC-7752-01A-11D-2114-08	36677183	207170677	36028696	6	8594											
ILKAP	80895	broad.mit.edu	37	chr2	239096826	239096826	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtcgttcaggatgacgtggGcatcctgcatctcctccctc	5	12	10	14	2	2	1	1	1	1	0	7	2	4	2	3	2	1	3	3	2	0	1			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr2:239096826G>A	ENST00000254654.3	-	5	546	c.371C>T	c.(370-372)gCc>gTc	p.A124V		NM_030768.2	NP_110395.1	Q9H0C8	ILKAP_HUMAN	integrin-linked kinase-associated serine/threonine phosphatase	124	PP2C-like.					cytoplasm|protein serine/threonine phosphatase complex	metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		GATGACGTGGGCATCCTGCAT	0.542													21	18					0	0	1	0	0	A	239096826	G	A	239096826	3	1	185	1	0	0	0	0	1	0	0	0	7758	1203	42	2	839	2	ILKAP	2	239096826	Missense_Mutation	SNP	G	TCGA-HC-7752-01A-11D-2114-08	31926149	239096826	4102547	7	8595											
RAF1	5894	broad.mit.edu	37	chr3	12626634	12626634	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacttacctgatctcggttgTtgatgtgagaataaggaagc	11	12	12	6	1	1	3	0	3	1	1	2	6	1	4	1	2	2	2	1	2	4	4			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr3:12626634T>C	ENST00000251849.4	-	15	2094	c.1655A>G	c.(1654-1656)aAc>aGc	p.N552S	RAF1_ENST00000542177.1_Missense_Mutation_p.N471S|RAF1_ENST00000534997.1_Missense_Mutation_p.N337S|RAF1_ENST00000442415.2_Missense_Mutation_p.N572S	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	v-raf-1 murine leukemia viral oncogene homolog 1	552	Protein kinase.				activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Sorafenib(DB00398)	ATCTCGGTTGTTGATGTGAGA	0.517			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome				3	80					0	0	1	0	0	C	12626634	T	C	12626634	3	2	185	1	0	0	0	0	1	0	0	0	13054	1725	60	3	303	3	RAF1	3	12626634	Missense_Mutation	SNP	T	TCGA-HC-7752-01A-11D-2114-08		12626634	185395796	8	8596											
NISCH	11188	broad.mit.edu	37	chr3	52522494	52522494	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgagaagttccacttcctgCgcgtctacaaccagctgcgg	9	8	10	14	4	1	1	0	0	1	1	3	2	3	1	3	1	5	2	3	1	3	3			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr3:52522494C>A	ENST00000345716.4	+	16	3120	c.2986C>A	c.(2986-2988)Cgc>Agc	p.R996S	NISCH_ENST00000479054.1_Missense_Mutation_p.R996S	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN	nischarin	996					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		CCACTTCCTGCGCGTCTACAA	0.647													3	86					1	1	1	1	0	A	52522494	C	A	52522494	3	1	185	1	0	0	0	0	1	0	0	0	10479	768	27	4	3048	4	NISCH	3	52522494	Missense_Mutation	SNP	C	TCGA-HC-7752-01A-11D-2114-08	39895860	52522494	145499936	9	8597											
TMEM39A	55254	broad.mit.edu	37	chr3	119176912	119176912	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtaaggataccaccacactgTtttataaatgttgatgtact	13	14	7	7	0	0	1	0	1	0	0	0	2	0	2	2	1	2	4	2	1	6	7			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr3:119176912T>G	ENST00000319172.5	-	3	709	c.289A>C	c.(289-291)Aca>Cca	p.T97P	TMEM39A_ENST00000486159.1_5'UTR	NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	97						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		CACCACACTGTTTTATAAATG	0.383													4	77					0	0	1	0	0	G	119176912	T	G	119176912	3	3	185	1	0	0	0	0	1	0	0	0	16221	1725	60	5	1205	5	TMEM39A	3	119176912	Missense_Mutation	SNP	T	TCGA-HC-7752-01A-11D-2114-08	66654418	119176912	78845518	10	8598											
MRAS	22808	broad.mit.edu	37	chr3	138117381	138117381	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaggaagatcaccagggagCaaggaaaagaaatggcgacc	17	3	14	7	1	1	3	1	1	0	2	1	7	1	6	2	4	1	1	2	4	5	0			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr3:138117381C>A	ENST00000289104.4	+	4	1065	c.418C>A	c.(418-420)Caa>Aaa	p.Q140K	MRAS_ENST00000474559.1_Missense_Mutation_p.Q140K|MRAS_ENST00000423968.2_Missense_Mutation_p.Q140K|MRAS_ENST00000464896.1_Missense_Mutation_p.Q64K	NM_001085049.2|NM_001252090.1|NM_001252091.1|NM_012219.4	NP_001078518.1|NP_001239019.1|NP_001239020.1|NP_036351.3	O14807	RASM_HUMAN	muscle RAS oncogene homolog	140					actin cytoskeleton organization|muscle organ development|Ras protein signal transduction	intracellular|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity			kidney(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	14						CACCAGGGAGCAAGGAAAAGA	0.512													3	70					0.150653	0.15668	1	1	0	A	138117381	C	A	138117381	3	1	185	1	0	0	0	0	1	0	0	0	9804	711	25	4	428	4	MRAS	3	138117381	Missense_Mutation	SNP	C	TCGA-HC-7752-01A-11D-2114-08	18940469	138117381	59905049	11	8599											
MRPL47	57129	broad.mit.edu	37	chr3	179320488	179320488	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgggtcatcaaaaaattCttctagtcctttccttgaca	10	17	5	9	0	4	1	2	1	2	0	6	1	6	1	2	1	0	0	2	1	4	7			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr3:179320488C>A	ENST00000476781.1	-	2	225	c.196G>T	c.(196-198)Gaa>Taa	p.E66*	MRPL47_ENST00000392659.2_Intron|MRPL47_ENST00000259038.2_Nonsense_Mutation_p.E46*	NM_020409.2	NP_065142.2	Q9HD33	RM47_HUMAN	mitochondrial ribosomal protein L47	66					translation	mitochondrial ribosome	structural constituent of ribosome			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|stomach(1)	11	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)			TCAAAAAATTCTTCTAGTCCT	0.373													27	44					3.65163e-15	4.21966e-15	1	1	0	A	179320488	C	A	179320488	4	1	185	1	0	0	0	0	0	1	0	0	9860	922	32	4	580	4	MRPL47	3	179320488	Nonsense_Mutation	SNP	C	TCGA-HC-7752-01A-11D-2114-08	41203107	179320488	18701942	12	8600											
AFAP1	60312	broad.mit.edu	37	chr4	7811388	7811388	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aggaggtctgctcgtctgtgGacggctttttctttcccaga	5	14	12	10	2	3	1	0	0	3	1	5	3	4	3	1	4	1	2	1	4	0	3			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr4:7811388G>C	ENST00000420658.1	-	9	1279	c.1007C>G	c.(1006-1008)tCc>tGc	p.S336C	AFAP1_ENST00000360265.4_Missense_Mutation_p.S336C|AFAP1_ENST00000382543.3_Missense_Mutation_p.S336C|AFAP1_ENST00000358461.2_Missense_Mutation_p.S336C	NM_001134647.1	NP_001128119.1	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	336						actin cytoskeleton|cytoplasm|focal adhesion	actin binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						CTCGTCTGTGGACGGCTTTTT	0.507													10	22					0	0	1	0	0	C	7811388	G	C	7811388	3	2	185	1	0	0	0	0	1	0	0	0	352	1174	41	4	1477	4	AFAP1	4	7811388	Missense_Mutation	SNP	G	TCGA-HC-7752-01A-11D-2114-08		7811388	183342888	13	8601											
UGT2B10	7365	broad.mit.edu	37	chr4	69682325	69682326	+	Frame_Shift_Ins	INS	-	-	C																															cttcctacgtacctgttgttINSatgtcaaaattaagtgatca																										TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr4:69682325_69682326insC	ENST00000265403.7	+	1	615_616	c.588_589insC	c.(586-591)gttgtcfs	p.V197fs	UGT2B10_ENST00000458688.2_Intron	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	197					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TACCTGTTGTTATGTCAAAATT	0.356													25	39	---	---	---	---						C	69682326	-	C	69682325	7	5	185	1	0	1	1	0	0	0	0	0	17016	1741	61	0	590	0	UGT2B10	4	69682325	Frame_Shift_Ins	INS	-	TCGA-HC-7752-01A-11D-2114-08	61870937	69682325	121471951	14	8602											
PAPD7	11044	broad.mit.edu	37	chr5	6738818	6738818	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagatatttggcagctttaGtacaggtctttatcttccaa	11	15	7	8	0	2	1	0	0	2	1	3	1	3	1	1	2	2	3	1	2	5	8			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr5:6738818G>A	ENST00000230859.6	+	3	242	c.113G>A	c.(112-114)aGt>aAt	p.S38N		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	38					cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GGCAGCTTTAGTACAGGTCTT	0.418													84	112					0	0	1	0	0	A	6738818	G	A	6738818	3	1	185	1	0	0	0	0	1	0	0	0	11473	1029	36	2	119	2	PAPD7	5	6738818	Missense_Mutation	SNP	G	TCGA-HC-7752-01A-11D-2114-08		6738818	174176442	15	8603											
ADAMTS12	81792	broad.mit.edu	37	chr5	33576475	33576475	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcctttggctggggagcagtCcttccattactgtgctgaag	6	12	13	10	0	0	1	0	1	0	0	2	2	2	2	3	3	3	3	3	3	2	3			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr5:33576475C>A	ENST00000504830.1	-	19	3991	c.3656G>T	c.(3655-3657)gGa>gTa	p.G1219V	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.G1134V	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1219	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GGGGAGCAGTCCTTCCATTAC	0.557										HNSCC(64;0.19)			48	58					1.46357e-32	1.72968e-32	1	1	0	A	33576475	C	A	33576475	3	1	185	1	0	0	0	0	1	0	0	0	256	855	30	4	1152	4	ADAMTS12	5	33576475	Missense_Mutation	SNP	C	TCGA-HC-7752-01A-11D-2114-08	26837657	33576475	147338785	16	8604											
GRIA1	0	broad.mit.edu	37	chr5	153190627	153190627	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatccatcaacgaagccataCggacatcgaccctcccccgc	12	5	6	18	4	1	0	1	0	0	0	4	3	3	1	5	1	3	0	5	1	4	1			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr5:153190627C>T	ENST00000285900.5	+	16	2906	c.2563C>T	c.(2563-2565)Cgg>Tgg	p.R855W	GRIA1_ENST00000518142.1_Missense_Mutation_p.R775W|GRIA1_ENST00000521843.2_Missense_Mutation_p.R786W|GRIA1_ENST00000448073.4_Missense_Mutation_p.R865W|GRIA1_ENST00000518783.1_Missense_Mutation_p.R865W|GRIA1_ENST00000340592.5_Missense_Mutation_p.R855W	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	855					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CGAAGCCATACGGACATCGAC	0.592													20	34					0	0	1	0	0	T	153190627	C	T	153190627	3	4	185	1	0	0	0	0	1	0	0	0	6808	527	19	1	2744	1	GRIA1	5	153190627	Missense_Mutation	SNP	C	TCGA-HC-7752-01A-11D-2114-08	119614152	153190627	27724633	17	8605											
DLK2	65989	broad.mit.edu	37	chr6	43418675	43418675	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggttggggggtctgggacagGtaagacaagctcacaggtct	9	8	17	7	0	3	1	1	0	2	1	3	2	3	2	0	7	1	3	0	7	2	2			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr6:43418675G>A	ENST00000357338.3	-	6	1454	c.754C>T	c.(754-756)Cct>Tct	p.P252S	DLK2_ENST00000372485.1_Missense_Mutation_p.P246S|DLK2_ENST00000372488.3_Missense_Mutation_p.P252S|DLK2_ENST00000414245.1_Missense_Mutation_p.P246S	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	delta-like 2 homolog (Drosophila)	252						integral to membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TCTGGGACAGGTAAGACAAGC	0.672													34	60					0	0	1	0	0	A	43418675	G	A	43418675	3	1	185	1	0	0	0	0	1	0	0	0	4593	1261	44	2	401	2	DLK2	6	43418675	Missense_Mutation	SNP	G	TCGA-HC-7752-01A-11D-2114-08		43418675	127696392	18	8606											
REPS1	85021	broad.mit.edu	37	chr6	139266690	139266690	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatcatggcttacggatcccTttttcacttgccccctgcca	6	14	6	15	1	2	0	2	0	0	0	3	1	3	1	4	2	3	1	4	2	2	5			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr6:139266690T>C	ENST00000450536.2	-	3	996	c.422A>G	c.(421-423)aAg>aGg	p.K141R	REPS1_ENST00000415951.2_Missense_Mutation_p.K141R|REPS1_ENST00000367663.4_Missense_Mutation_p.K141R|REPS1_ENST00000409812.2_Missense_Mutation_p.K141R|REPS1_ENST00000258062.5_Missense_Mutation_p.K141R			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	141						coated pit|plasma membrane	calcium ion binding|SH3 domain binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		TACGGATCCCTTTTTCACTTG	0.478													4	188					0	0	1	0	0	C	139266690	T	C	139266690	3	2	185	1	0	0	0	0	1	0	0	0	13280	1609	56	3	2040	3	REPS1	6	139266690	Missense_Mutation	SNP	T	TCGA-HC-7752-01A-11D-2114-08	95848015	139266690	31848377	19	8607											
C7orf43	55262	broad.mit.edu	37	chr7	99753343	99753343	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccacactgaaggtgagcGcgctgcccttccgggaaaag	10	5	14	12	3	0	2	0	2	0	0	1	3	1	3	3	3	2	1	3	3	3	1			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr7:99753343G>A	ENST00000316937.3	-	9	1531	c.1346C>T	c.(1345-1347)gCg>gTg	p.A449V	C7orf43_ENST00000394035.2_Missense_Mutation_p.A25V|C7orf43_ENST00000419841.1_Missense_Mutation_p.A217V|C7orf43_ENST00000457641.1_Missense_Mutation_p.A180V	NM_018275.3	NP_060745.3	Q8WVR3	CG043_HUMAN	chromosome 7 open reading frame 43	449										breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAAGGTGAGCGCGCTGCCCTT	0.657													4	88					0	0	1	0	0	A	99753343	G	A	99753343	3	1	185	1	0	0	0	0	1	0	0	0	2409	1087	38	1	408	1	C7orf43	7	99753343	Missense_Mutation	SNP	G	TCGA-HC-7752-01A-11D-2114-08		99753343	59385320	20	8608											
LAMB1	3912	broad.mit.edu	37	chr7	107569561	107569561	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcatctgcttgtttaattGccttctctgctgcgacctgg	4	17	8	12	1	3	0	1	0	2	0	4	1	3	0	2	1	4	3	2	1	1	6			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr7:107569561G>A	ENST00000393561.1	-	29	5091	c.4907C>T	c.(4906-4908)gCa>gTa	p.A1636V	LAMB1_ENST00000222399.6_Missense_Mutation_p.A1612V			P07942	LAMB1_HUMAN	laminin, beta 1	1612	Domain I.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTGTTTAATTGCCTTCTCTGC	0.418													8	157					0	0	1	0	0	A	107569561	G	A	107569561	3	1	185	1	0	0	0	0	1	0	0	0	8649	1319	46	2	541	2	LAMB1	7	107569561	Missense_Mutation	SNP	G	TCGA-HC-7752-01A-11D-2114-08	7816218	107569561	51569102	21	8609											
TRAM1	23471	broad.mit.edu	37	chr8	71496023	71496023	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaaaagaactgcccacagaGaaaatctgcaagaaaaaggc	21	3	8	9	0	1	3	0	0	1	3	1	4	1	3	1	1	3	1	1	1	8	0			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr8:71496023G>A	ENST00000521425.1	-	9	1530	c.494C>T	c.(493-495)tCt>tTt	p.S165F	TRAM1_ENST00000536748.1_Missense_Mutation_p.S220F|TRAM1_ENST00000521049.1_5'UTR|TRAM1_ENST00000262213.2_Missense_Mutation_p.S251F			Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	251	TLC.				cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			TGCCCACAGAGAAAATCTGCA	0.403													24	24					0	0	1	0	0	A	71496023	G	A	71496023	3	1	185	1	0	0	0	0	1	0	0	0	16512	942	33	2	384	2	TRAM1	8	71496023	Missense_Mutation	SNP	G	TCGA-HC-7752-01A-11D-2114-08		71496023	74867999	22	8610											
KIAA1217	56243	broad.mit.edu	37	chr10	24669920	24669920	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagggggatgctccaaccccTttttccagaggcagccggac	8	7	13	13	1	0	1	0	0	0	1	2	4	2	3	5	4	3	2	5	4	1	2			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr10:24669920T>C	ENST00000376454.3	+	3	507	c.477T>C	c.(475-477)ccT>ccC	p.P159P	KIAA1217_ENST00000376462.1_Silent_p.P79P|KIAA1217_ENST00000430453.2_Silent_p.P80P|KIAA1217_ENST00000458595.1_Silent_p.P159P|KIAA1217_ENST00000376452.3_Silent_p.P159P	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	159					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CTCCAACCCCTTTTTCCAGAG	0.542													3	63					0	0	1	0	0	C	24669920	T	C	24669920	2	2	185	1	0	0	0	0	0	0	0	1	8258	1596	56	3		3	KIAA1217	10	24669920	Silent	SNP	T	TCGA-HC-7752-01A-11D-2114-08		24669920	110864827	23	8611											
GAD2	2572	broad.mit.edu	37	chr10	26575312	26575312	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaccaaatgcatgcctcctaCctctttcagcaagataaaca	15	9	4	13	0	2	1	1	0	1	1	3	1	3	1	4	0	6	2	4	0	6	3			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr10:26575312C>G	ENST00000376261.3	+	13	1778	c.1275C>G	c.(1273-1275)taC>taG	p.Y425*	GAD2_ENST00000259271.3_Nonsense_Mutation_p.Y425*	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	425					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	ATGCCTCCTACCTCTTTCAGC	0.393													29	39					0	0	1	0	0	G	26575312	C	G	26575312	4	3	185	1	0	0	0	0	0	1	0	0	6215	518	18	4	1325	4	GAD2	10	26575312	Nonsense_Mutation	SNP	C	TCGA-HC-7752-01A-11D-2114-08	1905392	26575312	108959435	24	8612											
FAM21C	253725	broad.mit.edu	37	chr10	46248088	46248088	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaccgacgaggacttctcGccatttggctctggaggtgg	6	10	14	11	3	2	1	0	1	2	0	3	5	2	3	2	5	0	1	2	5	0	2			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr10:46248088G>A	ENST00000336378.4	+	12	1174	c.1056G>A	c.(1054-1056)tcG>tcA	p.S352S	FAM21C_ENST00000359860.4_Silent_p.S296S|FAM21C_ENST00000374362.2_Silent_p.S352S|FAM21C_ENST00000537517.1_Silent_p.S328S|FAM21C_ENST00000540872.1_Silent_p.S352S	NM_015262.2	NP_056077.2	A8K5W5	A8K5W5_HUMAN	family with sequence similarity 21, member C	352								p.S351S(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						AGGACTTCTCGCCATTTGGCT	0.532													76	117					0	0	1	0	0	A	46248088	G	A	46248088	2	1	185	1	0	0	0	0	0	0	0	1	5574	1074	38	1		1	FAM21C	10	46248088	Silent	SNP	G	TCGA-HC-7752-01A-11D-2114-08	19672776	46248088	89286659	25	8613											
ARHGAP22	58504	broad.mit.edu	37	chr10	49791063	49791063	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccacgcagcacaaaccagcGctgctgccagttcttcatga	10	7	8	16	2	2	1	1	1	1	0	2	1	2	1	3	0	5	5	3	0	1	2			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr10:49791063G>A	ENST00000249601.4	-	2	465	c.169C>T	c.(169-171)Cgc>Tgc	p.R57C	ARHGAP22_ENST00000491108.1_5'UTR|ARHGAP22_ENST00000417912.2_Missense_Mutation_p.R57C|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.R63C	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	57	PH.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ACAAACCAGCGCTGCTGCCAG	0.612													93	100					0	0	1	0	0	A	49791063	G	A	49791063	3	1	185	1	0	0	0	0	1	0	0	0	869	1087	38	1	1963	1	ARHGAP22	10	49791063	Missense_Mutation	SNP	G	TCGA-HC-7752-01A-11D-2114-08	3542975	49791063	85743684	26	8614											
FGFR2	2263	broad.mit.edu	37	chr10	123239400	123239400	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aacactgccgtttatgtgtgGatactgaggaaggcatggtt	10	12	13	6	1	0	1	0	1	0	0	0	3	0	3	1	4	3	3	1	4	4	4			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr10:123239400G>T	ENST00000358487.5	-	18	2709	c.2437C>A	c.(2437-2439)Cca>Aca	p.P813T	FGFR2_ENST00000369059.1_Missense_Mutation_p.P699T|FGFR2_ENST00000478859.1_Missense_Mutation_p.P585T|FGFR2_ENST00000369061.4_Missense_Mutation_p.P701T|FGFR2_ENST00000457416.2_Missense_Mutation_p.P814T|FGFR2_ENST00000356226.4_Missense_Mutation_p.P696T|FGFR2_ENST00000369060.4_Missense_Mutation_p.P697T|FGFR2_ENST00000346997.2_Missense_Mutation_p.P811T|FGFR2_ENST00000357555.5_Intron	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	813					angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	TTTATGTGTGGATACTGAGGA	0.478		5	Mis		"gastric. NSCLC, endometrial"		"Crouzon, Pfeiffer, and Apert syndromes"		Saethre-Chotzen syndrome;Apert syndrome				9	79					2.17888e-05	2.46308e-05	1	1	0	T	123239400	G	T	123239400	3	4	185	1	0	0	0	0	1	0	0	0	5899	1174	41	4	126	4	FGFR2	10	123239400	Missense_Mutation	SNP	G	TCGA-HC-7752-01A-11D-2114-08	73448337	123239400	12295347	27	8615											
EIF4G2	1982	broad.mit.edu	37	chr11	10821136	10821136	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaaatcctttatctacatGaagtttgggagagatgttat	13	14	8	6	0	1	2	0	1	1	1	2	4	2	3	1	1	1	2	1	1	5	5			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr11:10821136G>T	ENST00000526148.1	-	19	2797	c.2287C>A	c.(2287-2289)Cat>Aat	p.H763N	RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000396525.2_Missense_Mutation_p.H725N|EIF4G2_ENST00000525681.1_Missense_Mutation_p.H763N|EIF4G2_ENST00000339995.5_Missense_Mutation_p.H763N	NM_001172705.1	NP_001166176.1	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4 gamma, 2	763	W2.				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TTATCTACATGAAGTTTGGGA	0.363													5	68					0.00307968	0.00333632	1	1	0	T	10821136	G	T	10821136	3	4	185	1	0	0	0	0	1	0	0	0	5065	1290	45	4	452	4	EIF4G2	11	10821136	Missense_Mutation	SNP	G	TCGA-HC-7752-01A-11D-2114-08		10821136	124185380	28	8616											
SPON1	10418	broad.mit.edu	37	chr11	14284600	14284600	+	RNA	DEL	A	A	-																															gctaagtcttggacctgtttAaaaaaaaaaaaaaaaaaaaa																								rs79477301		TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr11:14284600delA	ENST00000310358.7	+	0	2795				RP11-21L19.1_ENST00000534587.1_RNA			Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		GGACCTGTTTaaaaaaaaaaa	0.463													3	6	---	---	---	---						-	14284600	A	-	14284600	6	5	185	0	1	1	0	1	0	0	0	0	15138	377	13	0		0	SPON1	11	14284600	RNA	DEL	A	TCGA-HC-7752-01A-11D-2114-08	3463464	14284600	120721916	29	8617											
MTA2	9219	broad.mit.edu	37	chr11	62361465	62361465	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggggcaagttgggtcggCgagcagctcgccgcatttcc	6	8	15	12	4	1	0	1	0	0	0	4	1	2	0	2	4	2	5	2	4	1	2			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr11:62361465C>G	ENST00000278823.2	-	18	2278	c.1889G>C	c.(1888-1890)cGc>cCc	p.R630P	MTA2_ENST00000524902.1_Missense_Mutation_p.R457P|MTA2_ENST00000527204.1_Missense_Mutation_p.R457P	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	630					chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						GTTGGGTCGGCGAGCAGCTCG	0.582											OREG0021027	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	36	57					0	0	1	0	0	G	62361465	C	G	62361465	3	3	185	1	0	0	0	0	1	0	0	0	9957	768	27	4	121	4	MTA2	11	62361465	Missense_Mutation	SNP	C	TCGA-HC-7752-01A-11D-2114-08	48076865	62361465	72645051	30	8618											
EMG1	10436	broad.mit.edu	37	chr12	7080212	7080213	+	RNA	INS	-	-	C																															acaagatcggaggccgtagtINSttattgtggtgctggaaggg																								rs36063533		TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr12:7080212_7080213insC	ENST00000546220.1	+	0	157_158				U47924.19_ENST00000564245.1_RNA|U47924.28_ENST00000261406.6_lincRNA			Q92979	NEP1_HUMAN	EMG1 N1-specific pseudouridine methyltransferase						ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										GAGGCCGTAGTTTATTGTGGTG	0.569													7	9	---	---	---	---						C	7080213	-	C	7080212	6	5	185	0	1	1	1	0	0	0	0	0	5118	1722	60	0		0	EMG1	12	7080212	RNA	INS	-	TCGA-HC-7752-01A-11D-2114-08		7080212	126771683	31	8619											
USP15	9958	broad.mit.edu	37	chr12	62785633	62785634	+	Frame_Shift_Ins	INS	-	-	A																															tggattgggatcctgatttgINSaaaaaaagatattttgatga																										TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr12:62785633_62785634insA	ENST00000280377.5	+	17	2329_2330	c.2271_2272insA	c.(2269-2274)ttaaaafs	p.LK757fs	USP15_ENST00000393654.3_Frame_Shift_Ins_p.LK732fs|USP15_ENST00000353364.3_Frame_Shift_Ins_p.LK728fs	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	757					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		ATCCTGATTTGAAAAAAAGATA	0.277													23	28	---	---	---	---						A	62785634	-	A	62785633	7	5	185	1	0	1	1	0	0	0	0	0	17106	1281	45	0	2246	0	USP15	12	62785633	Frame_Shift_Ins	INS	-	TCGA-HC-7752-01A-11D-2114-08	55705421	62785633	71066262	32	8620											
SRGAP1	57522	broad.mit.edu	37	chr12	64491145	64491145	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaagatttaacgatctgatTtcttgtatcagtaagtggac	13	14	9	5	1	3	2	1	1	2	1	3	5	3	3	0	1	1	2	0	1	4	6			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr12:64491145T>G	ENST00000355086.3	+	15	2327	c.1803T>G	c.(1801-1803)atT>atG	p.I601M	SRGAP1_ENST00000543397.1_Missense_Mutation_p.I538M|SRGAP1_ENST00000357825.3_Missense_Mutation_p.I578M|RP11-196H14.2_ENST00000535594.1_RNA	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	601	Rho-GAP.				axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		ACGATCTGATTTCTTGTATCA	0.428													15	29					0	0	1	0	0	G	64491145	T	G	64491145	3	3	185	1	0	0	0	0	1	0	0	0	15201	1829	64	5	1861	5	SRGAP1	12	64491145	Missense_Mutation	SNP	T	TCGA-HC-7752-01A-11D-2114-08	1705512	64491145	69360750	33	8621											
TPTE2	93492	broad.mit.edu	37	chr13	20067611	20067611	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctttcgcaggtgcctcctcGgttgttcctttaaattcgtt	4	18	8	11	3	1	0	0	0	1	0	6	0	3	0	3	2	1	4	3	2	2	7	rs144275026		TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr13:20067611G>A	ENST00000400230.2	-	2	86	c.42C>T	c.(40-42)acC>acT	p.T14T	TPTE2_ENST00000382977.4_Silent_p.T14T|TPTE2_ENST00000390680.2_Silent_p.T14T|TPTE2_ENST00000382978.1_Silent_p.T14T|TPTE2_ENST00000255310.6_Silent_p.T14T|TPTE2_ENST00000457266.2_Silent_p.T14T|TPTE2_ENST00000400103.2_Silent_p.T14T|TPTE2_ENST00000382975.4_Silent_p.T14T			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	14						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		GTGCCTCCTCGGTTGTTCCTT	0.373													9	57					0	0	1	0	0	A	20067611	G	A	20067611	2	1	185	1	0	0	0	0	0	0	0	1	16492	1103	39	1		1	TPTE2	13	20067611	Silent	SNP	G	TCGA-HC-7752-01A-11D-2114-08		20067611	95102267	34	8622											
YLPM1	56252	broad.mit.edu	37	chr14	75266297	75266297	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctcagaaatgatggggtccGatgcaagcttagactctgac	11	9	11	10	1	2	4	1	2	1	2	3	5	3	4	2	2	2	2	2	2	3	1			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr14:75266297G>A	ENST00000325680.7	+	5	4421	c.4297G>A	c.(4297-4299)Gat>Aat	p.D1433N	YLPM1_ENST00000238571.3_Missense_Mutation_p.D1238N|YLPM1_ENST00000552421.1_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1238					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GATGGGGTCCGATGCAAGCTT	0.483													4	139					0	0	1	0	0	A	75266297	G	A	75266297	3	1	185	1	0	0	0	0	1	0	0	0	17546	1058	37	1	4315	1	YLPM1	14	75266297	Missense_Mutation	SNP	G	TCGA-HC-7752-01A-11D-2114-08		75266297	32083243	35	8623											
ZSCAN29	146050	broad.mit.edu	37	chr15	43654116	43654116	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcccgttttgaattatcttCattctcaaatccagcttcaa	11	16	3	11	1	4	1	3	1	2	0	7	1	6	1	2	0	1	2	2	0	4	6			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr15:43654116C>A	ENST00000396976.2	-	5	1848	c.1714G>T	c.(1714-1716)Gaa>Taa	p.E572*	ZSCAN29_ENST00000396972.1_Nonsense_Mutation_p.E183*|ZSCAN29_ENST00000562072.1_Missense_Mutation_p.M500I|ZSCAN29_ENST00000568898.1_Nonsense_Mutation_p.E182*	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	572					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		GAATTATCTTCATTCTCAAAT	0.343													3	48					1	1	1	1	0	A	43654116	C	A	43654116	4	1	185	1	0	0	0	0	0	1	0	0	18276	835	29	4	848	4	ZSCAN29	15	43654116	Nonsense_Mutation	SNP	C	TCGA-HC-7752-01A-11D-2114-08		43654116	58877276	36	8624											
NDUFB10	4716	broad.mit.edu	37	chr16	2011661	2011661	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgtgccccacccacccccaaCcccccaccatcctcctgagg	7	4	5	25	1	0	1	0	1	0	0	2	1	2	1	11	1	2	0	11	1	1	0			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr16:2011661C>T	ENST00000543683.2	+	3	515	c.433C>T	c.(433-435)Ccc>Tcc	p.P145S	NDUFB10_ENST00000268668.6_Intron|NDUFB10_ENST00000569148.1_Intron			O96000	NDUBA_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10, 22kDa	13					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding			lung(1)|urinary_tract(1)	2					NADH(DB00157)	CCACCCCCAACCCCCCACCAT	0.597													4	3					0	0	1	0	0	T	2011661	C	T	2011661	3	4	185	1	0	0	0	0	1	0	0	0	10326	522	18	2		2	NDUFB10	16	2011661	Missense_Mutation	SNP	C	TCGA-HC-7752-01A-11D-2114-08		2011661	88343092	37	8625											
SALL1	6299	broad.mit.edu	37	chr16	51172768	51172768	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgggcagagcagggagcAgaactggggatgtggcagag	10	5	19	7	0	0	3	0	0	0	3	1	5	1	5	1	5	3	4	1	5	1	0			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr16:51172768A>G	ENST00000440970.1	-	2	3505	c.3074T>C	c.(3073-3075)cTg>cCg	p.L1025P	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.L1122P	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1122					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AGCAGGGAGCAGAACTGGGGA	0.567													16	37					0	0	1	0	0	G	51172768	A	G	51172768	3	3	185	1	0	0	0	0	1	0	0	0	13862	188	7	3	617	3	SALL1	16	51172768	Missense_Mutation	SNP	A	TCGA-HC-7752-01A-11D-2114-08	49161107	51172768	39181985	38	8626											
CNTNAP4	85445	broad.mit.edu	37	chr16	76532484	76532484	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaccaatgacactggattgcTtgcttataaagaacatcttc	13	12	7	9	0	1	2	0	1	1	1	2	4	1	3	1	1	3	2	1	1	5	5			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr16:76532484T>C	ENST00000307431.8	+	16	2640	c.2255T>C	c.(2254-2256)cTt>cCt	p.L752P	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.L756P|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.L680P|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.L704P	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	753	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						ACTGGATTGCTTGCTTATAAA	0.393													17	19					0	0	1	0	0	C	76532484	T	C	76532484	3	2	185	1	0	0	0	0	1	0	0	0	3672	1609	56	3	2329	3	CNTNAP4	16	76532484	Missense_Mutation	SNP	T	TCGA-HC-7752-01A-11D-2114-08	25359716	76532484	13822269	39	8627											
CCDC57	284001	broad.mit.edu	37	chr17	80121090	80121090	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcaccttctgtctgagtcGtgtcaccagcaggtttagga	7	12	10	12	1	4	1	2	1	2	0	5	2	4	2	3	2	1	2	3	2	1	3			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr17:80121090G>A	ENST00000392347.1	-	13	2062	c.2026C>T	c.(2026-2028)Cga>Tga	p.R676*	CCDC57_ENST00000392343.3_Nonsense_Mutation_p.R676*|CCDC57_ENST00000327026.3_5'UTR|CCDC57_ENST00000389641.4_Nonsense_Mutation_p.R676*	NM_198082.2	NP_932348.2	Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	676										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			TGTCTGAGTCGTGTCACCAGC	0.617													75	124					0	0	1	0	0	A	80121090	G	A	80121090	4	1	185	1	0	0	0	0	0	1	0	0	2847	1153	40	1	741	1	CCDC57	17	80121090	Nonsense_Mutation	SNP	G	TCGA-HC-7752-01A-11D-2114-08		80121090	1074120	40	8628											
ATP8B3	148229	broad.mit.edu	37	chr19	1789573	1789573	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtcctgggctggcggtgcagCcagcgggagcccgaacctcc	5	5	16	15	3	0	0	0	0	0	0	2	2	2	1	5	4	5	2	5	4	1	0			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr19:1789573C>A	ENST00000539485.1	-	23	2895	c.2662G>T	c.(2662-2664)Gct>Tct	p.A888S	ATP8B3_ENST00000310127.6_Missense_Mutation_p.A878S|ATP8B3_ENST00000525591.1_Missense_Mutation_p.A841S			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	878					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCGGTGCAGCCAGCGGGAGC	0.692													2	1					0.0784	0.0832	1	1	0	A	1789573	C	A	1789573	3	1	185	1	0	0	0	0	1	0	0	0	1194	739	26	4	1298	4	ATP8B3	19	1789573	Missense_Mutation	SNP	C	TCGA-HC-7752-01A-11D-2114-08		1789573	57339410	41	8629											
SPPL2B	56928	broad.mit.edu	37	chr19	2338915	2338915	+	RNA	DEL	T	T	-																															cgggctggctgccgggggggTttgtgcctcagttggtggga																										TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr19:2338915delT	ENST00000452401.2	+	0	539				AC005258.3_ENST00000590001.1_RNA			Q8TCT7	PSL1_HUMAN	signal peptide peptidase like 2B							Golgi membrane|integral to membrane	aspartic-type endopeptidase activity						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCGGGGGGGTTTGTGCCTCA	0.682													7	1	---	---	---	---						-	2338915	T	-	2338915	6	5	185	0	1	1	0	1	0	0	0	0	15145	1740	60	0		0	SPPL2B	19	2338915	RNA	DEL	T	TCGA-HC-7752-01A-11D-2114-08	549342	2338915	56790068	42	8630											
PNPLA6	10908	broad.mit.edu	37	chr19	7624001	7624001	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgcccgcccatcgactgcttCaagaccatggactttgggaa	9	8	10	14	3	1	1	1	0	0	1	2	4	1	3	3	2	1	1	3	2	2	2			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr19:7624001C>G	ENST00000221249.6	+	31	3980	c.3549C>G	c.(3547-3549)ttC>ttG	p.F1183L	PNPLA6_ENST00000600737.1_Missense_Mutation_p.F1221L|PNPLA6_ENST00000545201.2_Missense_Mutation_p.F1156L|PNPLA6_ENST00000414982.3_Missense_Mutation_p.F1231L|PNPLA6_ENST00000450331.3_Missense_Mutation_p.F1183L	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	1222					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						TCGACTGCTTCAAGACCATGG	0.567													21	37					0	0	1	0	0	G	7624001	C	G	7624001	3	3	185	1	0	0	0	0	1	0	0	0	12217	825	29	4	3807	4	PNPLA6	19	7624001	Missense_Mutation	SNP	C	TCGA-HC-7752-01A-11D-2114-08	5285086	7624001	51504982	43	8631											
WFDC6	140870	broad.mit.edu	37	chr20	44167989	44167989	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcagcgtgcccaggttcctGgatgtcccccaaaaggatga	9	9	11	12	1	1	1	1	1	0	0	3	3	3	3	4	3	2	1	4	3	2	2			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr20:44167989G>C	ENST00000600168.1	-	1	145	c.58C>G	c.(58-60)Cag>Gag	p.Q20E	EPPIN_ENST00000555685.1_Intron|WFDC6_ENST00000372670.3_Missense_Mutation_p.Q20E|EPPIN-WFDC6_ENST00000504988.1_Intron					WAP four-disulfide core domain 6											breast(1)|kidney(1)|large_intestine(2)|lung(2)	6		Myeloproliferative disorder(115;0.0122)				CCAGGTTCCTGGATGTCCCCC	0.502													37	40					0	0	1	0	0	C	44167989	G	C	44167989	3	2	185	1	0	0	0	0	1	0	0	0	17415	1357	47	4	214	4	WFDC6	20	44167989	Missense_Mutation	SNP	G	TCGA-HC-7752-01A-11D-2114-08		44167989	18857531	44	8632											
PKNOX1	5316	broad.mit.edu	37	chr21	44427675	44427675	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgcagaaggagtgagcccTccccctgtggagtctcagac	9	7	13	12	0	1	3	1	1	1	2	3	6	2	5	3	2	2	1	3	2	1	0			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr21:44427675T>C	ENST00000291547.5	+	3	337	c.126T>C	c.(124-126)ccT>ccC	p.P42P	PKNOX1_ENST00000432907.2_5'UTR	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	42							sequence-specific DNA binding			cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						GAGTGAGCCCTCCCCCTGTGG	0.522													3	151					0	0	1	0	0	C	44427675	T	C	44427675	2	2	185	1	0	0	0	0	0	0	0	1	12030	1538	54	3		3	PKNOX1	21	44427675	Silent	SNP	T	TCGA-HC-7752-01A-11D-2114-08		44427675	3702220	45	8633											
COL18A1	80781	broad.mit.edu	37	chr21	46900696	46900696	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggccgctttggggtgaacaGctccgacgtcccaggacccg	7	6	14	14	4	0	1	0	1	0	0	2	3	2	2	4	4	2	2	4	4	1	1			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr21:46900696G>A	ENST00000359759.4	+	12	2801	c.2780G>A	c.(2779-2781)aGc>aAc	p.S927N	COL18A1_ENST00000400337.2_Missense_Mutation_p.S512N|COL18A1_ENST00000355480.5_Missense_Mutation_p.S692N			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	927	Triple-helical region 3 (COL3).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GGGGTGAACAGCTCCGACGTC	0.721													13	17					0	0	1	0	0	A	46900696	G	A	46900696	3	1	185	1	0	0	0	0	1	0	0	0	3698	971	34	2	2940	2	COL18A1	21	46900696	Missense_Mutation	SNP	G	TCGA-HC-7752-01A-11D-2114-08	2473021	46900696	1229199	46	8634											
PARVG	64098	broad.mit.edu	37	chr22	44585032	44585032	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctggaagcagaggacatcGccctgacagccacaagccag	13	3	12	13	1	0	2	0	1	0	1	1	4	0	4	3	2	4	2	3	2	2	0			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr22:44585032G>A	ENST00000422871.1	+	6	710	c.286G>A	c.(286-288)Gcc>Acc	p.A96T	PARVG_ENST00000415224.1_Missense_Mutation_p.A96T|PARVG_ENST00000444313.2_Missense_Mutation_p.A96T	NM_001137605.1	NP_001131077.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	96	CH 1.				cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				AGAGGACATCGCCCTGACAGC	0.652													7	64					0	0	1	0	0	A	44585032	G	A	44585032	3	1	185	1	0	0	0	0	1	0	0	0	11517	1087	38	1	300	1	PARVG	22	44585032	Missense_Mutation	SNP	G	TCGA-HC-7752-01A-11D-2114-08		44585032	6719534	47	8635											
MCF2	4168	broad.mit.edu	37	chrX	138678882	138678882	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcttgtgccctatccaaacGctgaatccaccttgcattat	9	14	5	13	1	1	1	0	1	1	0	3	1	3	1	4	0	3	2	4	0	4	5			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chrX:138678882G>A	ENST00000520602.1	-	22	2568	c.2283C>T	c.(2281-2283)agC>agT	p.S761S	MCF2_ENST00000370576.4_Silent_p.S701S|MCF2_ENST00000536274.1_Silent_p.S662S|MCF2_ENST00000370578.4_Silent_p.S846S|MCF2_ENST00000519895.1_Silent_p.S777S|MCF2_ENST00000338585.6_Silent_p.S717S|MCF2_ENST00000414978.1_Silent_p.S761S|MCF2_ENST00000370573.4_Silent_p.S701S			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	701	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					CTATCCAAACGCTGAATCCAC	0.388													7	53					0	0	1	0	0	A	138678882	G	A	138678882	2	1	185	1	0	0	0	0	0	0	0	1	9428	1078	38	1		1	MCF2	23	138678882	Silent	SNP	G	TCGA-HC-7752-01A-11D-2114-08		138678882	16591678	48	8636											
ARHGAP4	393	broad.mit.edu	37	chrX	153187219	153187219	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcccgccgcagctcgccctgCagctccaggcagcgcagctg	5	5	12	19	4	0	0	0	0	0	0	3	0	2	0	4	1	5	7	4	1	0	0			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chrX:153187219C>A	ENST00000370028.3	-	2	168	c.111G>T	c.(109-111)ctG>ctT	p.L37L	ARHGAP4_ENST00000350060.5_Silent_p.L37L|ARHGAP4_ENST00000537206.1_Silent_p.L14L|ARHGAP4_ENST00000393721.1_Silent_p.L37L|ARHGAP4_ENST00000370016.1_Silent_p.L37L	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	37	FCH.				apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTCGCCCTGCAGCTCCAGGC	0.687													4	0					3.59834e-05	3.98114e-05	1	1	0	A	153187219	C	A	153187219	2	1	185	1	0	0	0	0	0	0	0	1	882	697	25	4		4	ARHGAP4	23	153187219	Silent	SNP	C	TCGA-HC-7752-01A-11D-2114-08	14508337	153187219	2083341	49	8637											
PCDH11Y	83259	broad.mit.edu	37	chrY	4968733	4968733	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accttcgaggtacctgtgtcCgtacacaccagaccggtagg	9	8	11	13	3	0	1	0	0	0	1	2	2	1	1	5	3	2	3	5	3	3	4			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chrY:4968733C>T	ENST00000333703.4	+	5	3594	c.3081C>T	c.(3079-3081)tcC>tcT	p.S1027S	PCDH11Y_ENST00000215473.6_Silent_p.S1038S|PCDH11Y_ENST00000362095.5_Silent_p.S1038S	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	1038					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TACCTGTGTCCGTACACACCA	0.403													4	67					0	0	1	0	0	T	4968733	C	T	4968733	2	4	185	1	0	0	0	0	0	0	0	1	11556	639	23	1		1	PCDH11Y	24	4968733	Silent	SNP	C	TCGA-HC-7752-01A-11D-2114-08		4968733	54404833	50	8638											
KCNA10	3744	broad.mit.edu	37	chr1	111061227	111061227	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggaagcttggagaaggcCgtctcatggttggtgctttc	6	11	14	10	2	1	1	1	0	1	1	3	3	1	2	2	5	2	3	2	5	2	3			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr1:111061227C>T	ENST00000369771.2	-	1	570	c.183G>A	c.(181-183)acG>acA	p.T61T		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	61						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity	p.T61T(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		TGGAGAAGGCCGTCTCATGGT	0.582													5	118					0	0	1	0	0	T	111061227	C	T	111061227	2	4	186	1	0	0	0	0	0	0	0	1	8046	639	23	1		1	KCNA10	1	111061227	Silent	SNP	C	TCGA-HC-7817-01B-11D-A29Q-08		111061227	138189394	1	8639											
MEF2D	4209	broad.mit.edu	37	chr1	156446862	156446862	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgactcgcaggtcgggcttgCggctgggggctccaagctgg	4	8	18	11	3	0	1	0	1	0	0	3	1	1	1	1	6	2	5	1	6	1	1			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr1:156446862C>T	ENST00000348159.4	-	7	1277	c.797G>A	c.(796-798)cGc>cAc	p.R266H	MEF2D_ENST00000368240.2_Missense_Mutation_p.R266H|MEF2D_ENST00000340875.5_Missense_Mutation_p.R265H|MEF2D_ENST00000353795.3_Missense_Mutation_p.R220H|MEF2D_ENST00000464356.1_Intron|MEF2D_ENST00000360595.3_Missense_Mutation_p.R266H	NM_005920.2	NP_005911.1	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D	266					apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GTCGGGCTTGCGGCTGGGGGC	0.617													4	153					0	0	1	0	0	T	156446862	C	T	156446862	3	4	186	1	0	0	0	0	1	0	0	0	9508	768	27	1	792	1	MEF2D	1	156446862	Missense_Mutation	SNP	C	TCGA-HC-7817-01B-11D-A29Q-08	45385635	156446862	92803759	2	8640											
DCAF8	50717	broad.mit.edu	37	chr1	160187426	160187426	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtcagggccctcctcctcgtCcgatgtgtctgaggagctgg	4	10	14	13	2	2	1	1	1	1	0	6	3	5	2	4	3	1	1	4	3	0	0			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr1:160187426C>T	ENST00000368073.3	-	14	2184	c.1750G>A	c.(1750-1752)Gac>Aac	p.D584N	DCAF8_ENST00000326837.2_Missense_Mutation_p.D584N|DCAF8_ENST00000461888.1_5'UTR|DCAF8_ENST00000556710.1_Missense_Mutation_p.D738N|DCAF8_ENST00000368074.1_Missense_Mutation_p.D584N			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	584						CUL4 RING ubiquitin ligase complex	protein binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						TCCTCCTCGTCCGATGTGTCT	0.622													7	72					0	0	1	0	0	T	160187426	C	T	160187426	3	4	186	1	0	0	0	0	1	0	0	0	4300	855	30	2	47	2	DCAF8	1	160187426	Missense_Mutation	SNP	C	TCGA-HC-7817-01B-11D-A29Q-08	3740564	160187426	89063195	3	8641											
KLHL12	59349	broad.mit.edu	37	chr1	202861726	202861726	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcccatggatgtcacgacttCccagctgtcgatgatagggt	8	11	11	11	2	1	1	1	1	0	0	4	4	3	2	2	2	1	1	2	2	1	2			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr1:202861726C>T	ENST00000367261.3	-	12	1860	c.1642G>A	c.(1642-1644)Gaa>Aaa	p.E548K	KLHL12_ENST00000435533.3_Missense_Mutation_p.E586K|KLHL12_ENST00000367259.1_3'UTR	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	548	Interaction with DVL3.				Wnt receptor signaling pathway		protein binding			NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			GTCACGACTTCCCAGCTGTCG	0.478													9	79					0	0	1	0	0	T	202861726	C	T	202861726	3	4	186	1	0	0	0	0	1	0	0	0	8411	864	30	2	68	2	KLHL12	1	202861726	Missense_Mutation	SNP	C	TCGA-HC-7817-01B-11D-A29Q-08	42674300	202861726	46388895	4	8642			1	20		2	2	31	C		3.101052e-05
KLHL12	59349	broad.mit.edu	37	chr1	202861756	202861756	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgatagggtcataacattCaatgctacttagcagggaat	14	11	10	6	0	2	1	2	1	0	0	2	3	2	2	0	2	4	2	0	2	6	5			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr1:202861756C>T	ENST00000367261.3	-	12	1830	c.1612G>A	c.(1612-1614)Gaa>Aaa	p.E538K	KLHL12_ENST00000435533.3_Missense_Mutation_p.E576K|KLHL12_ENST00000367259.1_3'UTR	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	538	Interaction with DVL3.				Wnt receptor signaling pathway		protein binding			NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			TCATAACATTCAATGCTACTT	0.483													7	60					0	0	1	0	0	T	202861756	C	T	202861756	3	4	186	1	0	0	0	0	1	0	0	0	8411	835	29	2	98	2	KLHL12	1	202861756	Missense_Mutation	SNP	C	TCGA-HC-7817-01B-11D-A29Q-08	30	202861756	46388865	5	8643			1	20		2	2	31	C		3.101052e-05
TAF5L	27097	broad.mit.edu	37	chr1	229738251	229738251	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgtcggggggctccaaaccGttgttctcactgcgggagga	7	9	15	10	3	1	0	1	0	1	0	4	2	2	2	2	5	2	3	2	5	1	2			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr1:229738251G>A	ENST00000366675.3	-	4	751	c.663C>T	c.(661-663)aaC>aaT	p.N221N	TAF5L_ENST00000366676.1_Silent_p.N221N|TAF5L_ENST00000258281.2_Silent_p.N221N	NM_001025247.1	NP_001020418.1	O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	221					histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				GCTCCAAACCGTTGTTCTCAC	0.552													4	104					0	0	1	0	0	A	229738251	G	A	229738251	2	1	186	1	0	0	0	0	0	0	0	1	15586	1136	40	1		1	TAF5L	1	229738251	Silent	SNP	G	TCGA-HC-7817-01B-11D-A29Q-08	26876495	229738251	19512370	6	8644											
EHBP1	23301	broad.mit.edu	37	chr2	63101583	63101583	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgagtgaaaagaaaggccccGgctccaccagtcctctcacc	11	5	9	16	2	1	2	1	1	1	1	4	3	3	2	6	2	0	1	6	2	3	0	rs148159032		TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr2:63101583G>A	ENST00000263991.5	+	11	1688	c.1206G>A	c.(1204-1206)ccG>ccA	p.P402P	EHBP1_ENST00000354487.3_Silent_p.P367P|EHBP1_ENST00000405015.3_Silent_p.P367P|EHBP1_ENST00000431489.1_Silent_p.P367P|EHBP1_ENST00000405289.1_Silent_p.P367P	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	402						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			GAAAGGCCCCGGCTCCACCAG	0.388													19	121					0	0	1	0	0	A	63101583	G	A	63101583	2	1	186	1	0	0	0	0	0	0	0	1	5001	1103	39	1		1	EHBP1	2	63101583	Silent	SNP	G	TCGA-HC-7817-01B-11D-A29Q-08		63101583	180097790	7	8645											
GPR98	84059	broad.mit.edu	37	chr5	90083965	90083965	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacattgcagacccagtgagCgggttgttctattttggaga	9	12	13	7	1	1	3	0	1	1	2	1	5	1	3	1	2	2	3	1	2	1	6			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr5:90083965C>T	ENST00000405460.2	+	68	13827	c.13731C>T	c.(13729-13731)agC>agT	p.S4577S	GPR98_ENST00000425867.2_Silent_p.S238S	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4577	Calx-beta 31.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ACCCAGTGAGCGGGTTGTTCT	0.433													4	61					0	0	1	0	0	T	90083965	C	T	90083965	2	4	186	1	0	0	0	0	0	0	0	1	6762	767	27	1		1	GPR98	5	90083965	Silent	SNP	C	TCGA-HC-7817-01B-11D-A29Q-08		90083965	90831295	8	8646											
MCC	4163	broad.mit.edu	37	chr5	112824048	112824048	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgctgctgctgccgcTgccgccgccgccgccgccgc	0	6	14	21	7	0	0	0	0	0	0	0	0	0	0	7	0	6	6	7	0	0	0	rs35336557		TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr5:112824048T>C	ENST00000408903.3	-	1	479	c.64A>G	c.(64-66)Agc>Ggc	p.S22G		NM_001085377.1	NP_001078846.1	P23508	CRCM_HUMAN	mutated in colorectal cancers	550					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		ctgctgccgctgccgccgccg	0.736													4	29					0	0	1	0	0	C	112824048	T	C	112824048	3	2	186	1	0	0	0	0	1	0	0	0	9423	1580	55	3	3132	3	MCC	5	112824048	Missense_Mutation	SNP	T	TCGA-HC-7817-01B-11D-A29Q-08	22740083	112824048	68091212	9	8647											
RSPH9	221421	broad.mit.edu	37	chr6	43623376	43623376	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggccatcatcccccgaggCgccctcttcaagaccccttt	6	9	8	18	2	3	1	2	0	1	1	4	2	4	1	6	2	0	0	6	2	1	2			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr6:43623376C>T	ENST00000372165.4	+	3	479	c.426C>T	c.(424-426)ggC>ggT	p.G142G	RSPH9_ENST00000372163.4_Silent_p.G157G	NM_001193341.1	NP_001180270.1	Q9H1X1	RSPH9_HUMAN	radial spoke head 9 homolog (Chlamydomonas)	157					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton		p.G157G(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TCCCCCGAGGCGCCCTCTTCA	0.572									Kartagener syndrome				36	253					0	0	1	0	0	T	43623376	C	T	43623376	2	4	186	1	0	0	0	0	0	0	0	1	13760	755	27	1		1	RSPH9	6	43623376	Silent	SNP	C	TCGA-HC-7817-01B-11D-A29Q-08		43623376	127491691	10	8648											
PNMA2	10687	broad.mit.edu	37	chr8	26366213	26366213	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatccccgtaaccatcagtGacttctgctcatccacactc	9	11	5	16	1	3	1	2	1	1	0	6	1	5	1	4	0	2	3	4	0	2	3			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr8:26366213G>T	ENST00000522362.2	-	3	953	c.59C>A	c.(58-60)tCa>tAa	p.S20*		NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN	paraneoplastic Ma antigen 2	20					apoptosis	nucleolus	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		aaccatcagtgacttctgctc	0.512													32	179					3.99451e-17	4.21239e-17	1	1	0	T	26366213	G	T	26366213	4	4	186	1	0	0	0	0	0	1	0	0	12202	1294	45	4	1039	4	PNMA2	8	26366213	Nonsense_Mutation	SNP	G	TCGA-HC-7817-01B-11D-A29Q-08		26366213	119997809	11	8649											
ATP6V1H	51606	broad.mit.edu	37	chr8	54754237	54754238	+	Frame_Shift_Ins	INS	-	-	C																															atccacagcacctcggatatINSccattttggtcatctaaact																										TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr8:54754237_54754238insC	ENST00000355221.3	-	2	572_573	c.13_14insG	c.(13-15)tatfs	p.Y5fs	ATP6V1H_ENST00000396774.2_Frame_Shift_Ins_p.Y5fs|ATP6V1H_ENST00000359530.2_Frame_Shift_Ins_p.Y5fs	NM_213619.2	NP_998784.1	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H	5					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism			endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	18		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			ACCTCGGATATCCATTTTGGTC	0.396													15	134	---	---	---	---						C	54754238	-	C	54754237	7	5	186	1	0	1	1	0	0	0	0	0	1187	1435	50	0	1489	0	ATP6V1H	8	54754237	Frame_Shift_Ins	INS	-	TCGA-HC-7817-01B-11D-A29Q-08	28388024	54754237	91609785	12	8650											
XKR4	114786	broad.mit.edu	37	chr8	56015725	56015725	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaagagcaacatcgccgCggccaacagcggcagcaaca	14	1	11	15	4	0	1	0	0	0	1	1	1	0	1	2	2	7	4	2	2	4	0			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr8:56015725C>T	ENST00000327381.5	+	1	777	c.677C>T	c.(676-678)gCg>gTg	p.A226V		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	226						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			AACATCGCCGCGGCCAACAGC	0.652													4	85					0	0	1	0	0	T	56015725	C	T	56015725	3	4	186	1	0	0	0	0	1	0	0	0	17493	768	27	1	679	1	XKR4	8	56015725	Missense_Mutation	SNP	C	TCGA-HC-7817-01B-11D-A29Q-08	1261488	56015725	90348297	13	8651											
DAPK1	1612	broad.mit.edu	37	chr9	90321394	90321394	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgcatcgtgcccgtggaacaCctcacccccttcccatgtgg	6	8	9	18	3	1	0	1	0	0	0	3	1	2	1	5	2	2	1	5	2	1	1			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr9:90321394C>G	ENST00000469640.2	+	27	3858	c.3483C>G	c.(3481-3483)caC>caG	p.H1161Q	DAPK1_ENST00000472284.1_Missense_Mutation_p.H1136Q|DAPK1_ENST00000408954.3_Missense_Mutation_p.H1136Q|DAPK1_ENST00000358077.5_Missense_Mutation_p.H1136Q|DAPK1_ENST00000491893.1_Missense_Mutation_p.H1070Q			P53355	DAPK1_HUMAN	death-associated protein kinase 1	1136					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						CCGTGGAACACCTCACCCCCT	0.612									Chronic Lymphocytic Leukemia, Familial Clustering of				3	47					0	0	1	0	0	G	90321394	C	G	90321394	3	3	186	1	0	0	0	0	1	0	0	0	4259	506	18	4	3506	4	DAPK1	9	90321394	Missense_Mutation	SNP	C	TCGA-HC-7817-01B-11D-A29Q-08		90321394	50892037	14	8652											
LMX1B	4010	broad.mit.edu	37	chr9	129458133	129458133	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccagaggtcctgtccagccGcatggagggcatgatggctt	7	8	14	12	1	0	2	0	1	0	1	2	3	2	3	4	4	1	3	4	4	0	1			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr9:129458133G>A	ENST00000355497.5	+	7	942	c.935G>A	c.(934-936)cGc>cAc	p.R312H	LMX1B_ENST00000425646.2_Missense_Mutation_p.R278H|LMX1B_ENST00000373474.4_Missense_Mutation_p.R301H|LMX1B_ENST00000561065.1_Missense_Mutation_p.R289H|LMX1B_ENST00000526117.1_Missense_Mutation_p.R301H	NM_001174146.1	NP_001167617.1	O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	278					dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						CTGTCCAGCCGCATGGAGGGC	0.662									Nail-Patella Syndrome				9	75					0	0	1	0	0	A	129458133	G	A	129458133	3	1	186	1	0	0	0	0	1	0	0	0	8903	1087	38	1	961	1	LMX1B	9	129458133	Missense_Mutation	SNP	G	TCGA-HC-7817-01B-11D-A29Q-08	39136739	129458133	11755298	15	8653											
HRAS	3265	broad.mit.edu	37	chr11	533309	533309	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgctgggtcacatgggtcccGgggggtcccagagggtcccg	4	6	18	13	3	1	1	1	0	0	1	4	1	4	1	3	6	0	1	3	6	0	0			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr11:533309G>A	ENST00000417302.1	-	5	687	c.500C>T	c.(499-501)cCg>cTg	p.P167L	HRAS_ENST00000311189.7_Intron|HRAS_ENST00000397594.1_Missense_Mutation_p.P167L|HRAS_ENST00000451590.1_Intron|HRAS_ENST00000397596.2_Intron	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	0	Hypervariable region.				activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding			adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	CATGGGTCCCGGGGGGTCCCA	0.721		6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)			5	51					0	0	1	0	0	A	533309	G	A	533309	3	1	186	1	0	0	0	0	1	0	0	0	7389	1116	39	1	140	1	HRAS	11	533309	Missense_Mutation	SNP	G	TCGA-HC-7817-01B-11D-A29Q-08		533309	134473207	16	8654											
CKAP5	9793	broad.mit.edu	37	chr11	46801810	46801810	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcctcaaagaacattcgcaaAgagggaccaacatacagata	18	6	7	10	1	1	3	1	0	0	3	3	4	2	4	2	1	3	1	2	1	6	3			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr11:46801810A>C	ENST00000529230.1	-	20	2413	c.2367T>G	c.(2365-2367)tcT>tcG	p.S789S	CKAP5_ENST00000312055.5_Silent_p.S789S|CKAP5_ENST00000354558.3_Silent_p.S789S|CKAP5_ENST00000415402.1_Silent_p.S789S			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	789					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						ACATTCGCAAAGAGGGACCAA	0.423													10	45					0	0	1	0	0	C	46801810	A	C	46801810	2	2	186	1	0	0	0	0	0	0	0	1	3468	59	3	5		5	CKAP5	11	46801810	Silent	SNP	A	TCGA-HC-7817-01B-11D-A29Q-08	46268501	46801810	88204706	17	8655											
OR4D10	390197	broad.mit.edu	37	chr11	59245336	59245336	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaccattgcattgggctcaCagtggctgcctggttggggg	6	10	16	9	0	1	1	1	0	0	1	1	1	1	1	2	5	2	4	2	5	0	3			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr11:59245336C>G	ENST00000530162.1	+	1	491	c.434C>G	c.(433-435)aCa>aGa	p.T145R		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T145I(1)|p.T143I(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATTGGGCTCACAGTGGCTGCC	0.517													14	100					0	0	1	0	0	G	59245336	C	G	59245336	3	3	186	1	0	0	0	0	1	0	0	0	11102	478	17	4	436	4	OR4D10	11	59245336	Missense_Mutation	SNP	C	TCGA-HC-7817-01B-11D-A29Q-08	12443526	59245336	75761180	18	8656											
TTC12	54970	broad.mit.edu	37	chr11	113196336	113196336	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtttggagaagctgaaggAcatgaaagtgctgtacacca	13	8	14	6	0	0	3	0	2	0	1	0	5	0	4	1	3	3	4	1	3	4	2			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr11:113196336A>G	ENST00000393020.1	+	6	818	c.413A>G	c.(412-414)gAc>gGc	p.D138G	TTC12_ENST00000314756.3_Missense_Mutation_p.D138G|TTC12_ENST00000483239.2_Missense_Mutation_p.D138G|TTC12_ENST00000529221.1_Missense_Mutation_p.D138G			Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	138							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		AAGCTGAAGGACATGAAAGTG	0.468													19	98					0	0	1	0	0	G	113196336	A	G	113196336	3	3	186	1	0	0	0	0	1	0	0	0	16741	275	10	3	431	3	TTC12	11	113196336	Missense_Mutation	SNP	A	TCGA-HC-7817-01B-11D-A29Q-08	53951000	113196336	21810180	19	8657											
SLC4A8	9498	broad.mit.edu	37	chr12	51855065	51855065	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatccatggccaccatcaTgacagatgaggtatgtgcaa	13	8	10	10	0	1	4	1	2	0	2	2	4	2	4	3	2	1	2	3	2	2	1			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr12:51855065T>A	ENST00000453097.2	+	9	1308	c.1091T>A	c.(1090-1092)aTg>aAg	p.M364K	SLC4A8_ENST00000535225.2_Missense_Mutation_p.M311K|SLC4A8_ENST00000514353.3_Missense_Mutation_p.M311K|SLC4A8_ENST00000394856.1_Missense_Mutation_p.M311K|SLC4A8_ENST00000358657.3_Missense_Mutation_p.M391K	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	364					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		GCCACCATCATGACAGATGAG	0.408													3	41					0	0	1	0	0	A	51855065	T	A	51855065	3	1	186	1	0	0	0	0	1	0	0	0	14714	1464	51	5	1125	5	SLC4A8	12	51855065	Missense_Mutation	SNP	T	TCGA-HC-7817-01B-11D-A29Q-08		51855065	81996830	20	8658											
HELB	92797	broad.mit.edu	37	chr12	66725028	66725028	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgaccaggggccgctgccGagtgtatgtgattgcagagg	7	8	17	9	3	0	3	0	2	0	1	0	4	0	3	3	3	2	3	3	3	1	2			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr12:66725028G>T	ENST00000247815.4	+	12	2824	c.2765G>T	c.(2764-2766)cGa>cTa	p.R922L		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	922					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		GGCCGCTGCCGAGTGTATGTG	0.532													4	76					0.000602214	0.00061278	1	1	0	T	66725028	G	T	66725028	3	4	186	1	0	0	0	0	1	0	0	0	7086	1058	37	4	2811	4	HELB	12	66725028	Missense_Mutation	SNP	G	TCGA-HC-7817-01B-11D-A29Q-08	14869963	66725028	67126867	21	8659											
OAS2	0	broad.mit.edu	37	chr12	113447043	113447043	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caataccaccttggaaagtgCcggtaaaagtcatctaaagg	15	8	9	9	1	2	0	1	0	1	0	2	1	2	1	3	3	2	1	3	3	7	4			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr12:113447043C>T	ENST00000392583.2	+	10	2254	c.2047C>T	c.(2047-2049)Ccg>Tcg	p.P683S	RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000342315.4_Missense_Mutation_p.P683S	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	683	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						TTGGAAAGTGCCGGTAAAAGT	0.458													6	280					0	0	1	0	0	T	113447043	C	T	113447043	3	4	186	1	0	0	0	0	1	0	0	0	10848	739	26	2	2156	2	OAS2	12	113447043	Missense_Mutation	SNP	C	TCGA-HC-7817-01B-11D-A29Q-08	46722015	113447043	20404852	22	8660											
SCARB1	949	broad.mit.edu	37	chr12	125299595	125299595	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggctggaactggaaggtgCggtactcgaggaaggacacg	11	5	18	7	3	0	0	0	0	0	0	1	5	0	4	0	7	3	2	0	7	4	1			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr12:125299595C>T	ENST00000339570.5	-	3	546	c.350G>A	c.(349-351)cGc>cAc	p.R117H	SCARB1_ENST00000540495.1_Missense_Mutation_p.R80H|SCARB1_ENST00000544327.1_Missense_Mutation_p.R63H|SCARB1_ENST00000261693.6_Missense_Mutation_p.R117H|SCARB1_ENST00000535005.1_5'UTR|SCARB1_ENST00000415380.2_Missense_Mutation_p.R117H|SCARB1_ENST00000541205.1_Missense_Mutation_p.R76H|SCARB1_ENST00000546215.1_Missense_Mutation_p.R117H|SCARB1_ENST00000376788.1_Intron	NM_001082959.1	NP_001076428.1	Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	117					adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	CTGGAAGGTGCGGTACTCGAG	0.612													4	69					0	0	1	0	0	T	125299595	C	T	125299595	3	4	186	1	0	0	0	0	1	0	0	0	13934	768	27	1	1343	1	SCARB1	12	125299595	Missense_Mutation	SNP	C	TCGA-HC-7817-01B-11D-A29Q-08	11852552	125299595	8552300	23	8661											
ADCY4	196883	broad.mit.edu	37	chr14	24793576	24793576	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggaggaaggtgatgctataCgtgatggccagagctggggg	10	7	19	5	1	0	3	0	2	0	1	0	5	0	5	1	6	3	2	1	6	3	2	rs141339113		TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr14:24793576C>T	ENST00000310677.4	-	16	1958	c.1845G>A	c.(1843-1845)acG>acA	p.T615T	ADCY4_ENST00000396747.3_Silent_p.T308T|ADCY4_ENST00000554068.2_Silent_p.T615T|ADCY4_ENST00000418030.2_Silent_p.T615T	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	615					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		TGATGCTATACGTGATGGCCA	0.567													10	87					0	0	1	0	0	T	24793576	C	T	24793576	2	4	186	1	0	0	0	0	0	0	0	1	295	523	19	1		1	ADCY4	14	24793576	Silent	SNP	C	TCGA-HC-7817-01B-11D-A29Q-08		24793576	82555964	24	8662											
MON1B	22879	broad.mit.edu	37	chr16	77228355	77228380	+	Frame_Shift_Del	DEL	CACTTACACGTGCAAGTGTCGCCCGC	CACTTACACGTGCAAGTGTCGCCCGC	-																															gcacgcacagatcgtgagcaCacttacacgtgcaagtgtcg																										TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr16:77228355_77228380delCACTTACACGTGCAAGTGTCGCCCGC	ENST00000248248.3	+	4	949_974	c.599_624delCACTTACACGTGCAAGTGTCGCCCGC	c.(598-624)afs	p.TLTRASVAR200fs	MON1B_ENST00000439557.2_Frame_Shift_Del_p.TLTRASVAR91fs|MON1B_ENST00000320859.6_Intron|MON1B_ENST00000545553.1_Frame_Shift_Del_p.TLTRASVAR54fs	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B	200							protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						ATCGTGAGCACACTTACACGTGCAAGTGTCGCCCGCATCTTCGCAC	0.611													12	158	---	---	---	---						-	77228380	CACTTACACGTGCAAGTGTCGCCCGC	-	77228355	7	5	186	1	0	1	0	1	0	0	0	0	9748	478	17	0	609	0	MON1B	16	77228355	Frame_Shift_Del	DEL	CACTTACACGTGCAAGTGTCGCCCGC	TCGA-HC-7817-01B-11D-A29Q-08		77228355	13126398	25	8663											
NPEPPS	9520	broad.mit.edu	37	chr17	45668127	45668127	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aatgaaggttttgcatcctgGattgaatatctgtgtgtaga	11	15	11	4	0	1	3	0	2	1	1	2	4	2	4	1	2	1	3	1	2	5	5			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr17:45668127G>A	ENST00000322157.4	+	10	1377	c.1140G>A	c.(1138-1140)tgG>tgA	p.W380*	NPEPPS_ENST00000530173.1_Nonsense_Mutation_p.W376*|NPEPPS_ENST00000525037.1_3'UTR|NPEPPS_ENST00000544660.1_Nonsense_Mutation_p.W300*	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	380					proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						TTGCATCCTGGATTGAATATC	0.383													7	61					0	0	1	0	0	A	45668127	G	A	45668127	4	1	186	1	0	0	0	0	0	1	0	0	10622	1183	41	2	1178	2	NPEPPS	17	45668127	Nonsense_Mutation	SNP	G	TCGA-HC-7817-01B-11D-A29Q-08		45668127	35527083	26	8664											
CACNA1A	773	broad.mit.edu	37	chr19	13616783	13616783	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggcgtattttctcaccaCgttgtcttcgctgaagagga	7	15	10	9	3	2	2	1	1	2	1	4	3	2	3	1	2	0	3	1	2	2	6			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr19:13616783C>T	ENST00000360228.5	-	1	255	c.256G>A	c.(256-258)Gtg>Atg	p.V86M	CACNA1A_ENST00000573710.2_Missense_Mutation_p.V86M	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	86					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TTTCTCACCACGTTGTCTTCG	0.597													9	36					0	0	1	0	0	T	13616783	C	T	13616783	3	4	186	1	0	0	0	0	1	0	0	0	2556	536	19	1	7566	1	CACNA1A	19	13616783	Missense_Mutation	SNP	C	TCGA-HC-7817-01B-11D-A29Q-08		13616783	45512200	27	8665											
ZNF831	128611	broad.mit.edu	37	chr20	57767498	57767498	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccgtgcgctccacctggaCgcccccagacaagtctcggc	6	5	10	20	4	1	1	0	0	1	1	3	2	2	2	6	2	1	1	6	2	1	0	rs139591279		TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr20:57767498C>T	ENST00000371030.2	+	1	1424	c.1424C>T	c.(1423-1425)aCg>aTg	p.T475M		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	475						intracellular	nucleic acid binding|zinc ion binding	p.T475M(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TCCACCTGGACGCCCCCAGAC	0.672													13	96					0	0	1	0	0	T	57767498	C	T	57767498	3	4	186	1	0	0	0	0	1	0	0	0	18232	536	19	1	1426	1	ZNF831	20	57767498	Missense_Mutation	SNP	C	TCGA-HC-7817-01B-11D-A29Q-08		57767498	5258022	28	8666											
ADAMTS5	11096	broad.mit.edu	37	chr21	28327086	28327086	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagccacagtgaaggctgcGtggaggccatcgtcttcaat	9	9	13	10	2	2	2	1	2	1	0	3	3	2	3	2	3	2	1	2	3	2	1			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr21:28327086G>A	ENST00000284987.5	-	2	1330	c.1209C>T	c.(1207-1209)caC>caT	p.H403H		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	403	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	p.H403H(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						TGAAGGCTGCGTGGAGGCCAT	0.498													13	78					0	0	1	0	0	A	28327086	G	A	28327086	2	1	186	1	0	0	0	0	0	0	0	1	268	1136	40	1		1	ADAMTS5	21	28327086	Silent	SNP	G	TCGA-HC-7817-01B-11D-A29Q-08		28327086	19802809	29	8667											
THAP7	80764	broad.mit.edu	37	chr22	21354950	21354950	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acataccgcttcctgcatcgTctgagccggctgacttcagc	7	10	9	15	3	2	2	1	2	1	0	4	2	3	2	3	1	4	3	3	1	1	3			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr22:21354950T>C	ENST00000215742.4	-	3	537	c.363A>G	c.(361-363)agA>agG	p.R121R	THAP7_ENST00000399133.2_Silent_p.R121R	NM_030573.2	NP_085050.2	Q9BT49	THAP7_HUMAN	THAP domain containing 7	121					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck	C2H2 zinc finger domain binding|DNA binding|metal ion binding|protein N-terminus binding			cervix(1)|lung(2)|prostate(3)|skin(1)|stomach(1)	8	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TCCTGCATCGTCTGAGCCGGC	0.607													21	143					0	0	1	0	0	C	21354950	T	C	21354950	2	2	186	1	0	0	0	0	0	0	0	1	15909	1664	58	3		3	THAP7	22	21354950	Silent	SNP	T	TCGA-HC-7817-01B-11D-A29Q-08		21354950	29949616	30	8668											
SNRPD3	6634	broad.mit.edu	37	chr22	24953658	24953658	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccaagatgtctattggtgtgCcgattaaagtactgcatgag	11	12	11	7	1	1	2	0	1	1	1	1	3	1	2	2	1	3	2	2	1	5	4			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr22:24953658C>T	ENST00000215829.3	+	2	603	c.16C>T	c.(16-18)Ccg>Tcg	p.P6S	SNRPD3_ENST00000402849.1_Missense_Mutation_p.P6S	NM_001278656.1|NM_004175.3	NP_001265585.1|NP_004166.1	P62318	SMD3_HUMAN	small nuclear ribonucleoprotein D3 polypeptide 18kDa	6					histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	enzyme binding|histone pre-mRNA DCP binding	p.P6S(1)		endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6						TATTGGTGTGCCGATTAAAGT	0.478													4	120					0	0	1	0	0	T	24953658	C	T	24953658	3	4	186	1	0	0	0	0	1	0	0	0	14920	739	26	2	18	2	SNRPD3	22	24953658	Missense_Mutation	SNP	C	TCGA-HC-7817-01B-11D-A29Q-08	3598708	24953658	26350908	31	8669											
EP300	2033	broad.mit.edu	37	chr22	41573200	41573200	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tacagcaggcccaaatgcttCgcaggaggatggccagcatg	11	6	13	11	1	0	0	0	0	0	0	1	2	0	2	2	4	4	4	2	4	2	2			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr22:41573200C>T	ENST00000263253.7	+	31	6704	c.5485C>T	c.(5485-5487)Cgc>Tgc	p.R1829C	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1829					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CCAAATGCTTCGCAGGAGGAT	0.607			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome				12	126					0	0	1	0	0	T	41573200	C	T	41573200	3	4	186	1	0	0	0	0	1	0	0	0	5176	884	31	1	5607	1	EP300	22	41573200	Missense_Mutation	SNP	C	TCGA-HC-7817-01B-11D-A29Q-08	16619542	41573200	9731366	32	8670											
PADI1	29943	broad.mit.edu	37	chr1	17548935	17548935	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatggtcgtatctgtgggCacagccagtaaggaattaaa	13	9	12	7	1	1	0	0	0	1	0	2	2	1	1	1	3	1	3	1	3	5	3			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr1:17548935C>A	ENST00000375471.4	+	2	335	c.243C>A	c.(241-243)ggC>ggA	p.G81G		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	81					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	TATCTGTGGGCACAGCCAGTA	0.517													7	116					0.00621372	0.0067786	1	1	0	A	17548935	C	A	17548935	2	1	187	1	0	0	0	0	0	0	0	1	11424	697	25	4		4	PADI1	1	17548935	Silent	SNP	C	TCGA-HC-7818-01A-11D-2114-08		17548935	231701686	1	8671											
DAB1	1600	broad.mit.edu	37	chr1	57535038	57535038	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caagcaattttatacctgatAaatgttttcttccgtttcgg	10	17	6	8	2	1	1	0	1	1	0	3	1	2	1	2	1	2	3	2	1	6	8			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr1:57535038A>G	ENST00000371236.2	-	8	921	c.658T>C	c.(658-660)Tat>Cat	p.Y220H	DAB1_ENST00000371231.1_Missense_Mutation_p.Y220H|DAB1_ENST00000420954.2_Intron|DAB1_ENST00000414851.2_Intron|DAB1_ENST00000371234.4_Missense_Mutation_p.Y220H|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000439789.2_Intron			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	220					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						TATACCTGATAAATGTTTTCT	0.423													4	143					0	0	1	0	0	G	57535038	A	G	57535038	3	3	187	1	0	0	0	0	1	0	0	0	4241	362	13	3	1037	3	DAB1	1	57535038	Missense_Mutation	SNP	A	TCGA-HC-7818-01A-11D-2114-08	39986103	57535038	191715583	2	8672											
CACNA1E	777	broad.mit.edu	37	chr1	181708366	181708366	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactttgtggtggtcgttggCgcattggtggcctttgctct	2	16	15	8	2	1	0	0	0	1	0	2	1	1	0	1	5	1	3	1	5	0	4			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr1:181708366C>A	ENST00000526775.1	+	24	3804	c.3639C>A	c.(3637-3639)ggC>ggA	p.G1213G	CACNA1E_ENST00000358338.5_Silent_p.G1164G|CACNA1E_ENST00000360108.3_Silent_p.G1213G|CACNA1E_ENST00000367567.4_Silent_p.G839G|CACNA1E_ENST00000357570.5_Silent_p.G1183G|CACNA1E_ENST00000367573.2_Silent_p.G1232G|CACNA1E_ENST00000367570.1_Silent_p.G1232G	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1232					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TGGTCGTTGGCGCATTGGTGG	0.493													5	154					0.000602214	0.000672239	1	1	0	A	181708366	C	A	181708366	2	1	187	1	0	0	0	0	0	0	0	1	2560	755	27	4		4	CACNA1E	1	181708366	Silent	SNP	C	TCGA-HC-7818-01A-11D-2114-08	124173328	181708366	67542255	3	8673											
RYR2	6262	broad.mit.edu	37	chr1	237664181	237664181	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggcctcttctttccagtcGttagtttctctgcaggaata	7	16	8	10	1	3	0	0	0	3	0	6	1	4	1	2	2	1	3	2	2	3	5			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr1:237664181G>A	ENST00000366574.2	+	21	2691	c.2374G>A	c.(2374-2376)Gtt>Att	p.V792I	RYR2_ENST00000542537.1_Missense_Mutation_p.V776I|RYR2_ENST00000360064.6_Missense_Mutation_p.V790I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	792	B30.2/SPRY 1.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTTTCCAGTCGTTAGTTTCTC	0.413													4	72					0	0	1	0	0	A	237664181	G	A	237664181	3	1	187	1	0	0	0	0	1	0	0	0	13821	1145	40	1	2456	1	RYR2	1	237664181	Missense_Mutation	SNP	G	TCGA-HC-7818-01A-11D-2114-08	55955815	237664181	11586440	4	8674											
OR2M5	127059	broad.mit.edu	37	chr1	248309107	248309107	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcatcatcgcttcctatgctCgagttattctggctgtcatt	6	17	7	11	2	4	0	3	0	1	0	7	1	5	0	1	1	1	4	1	1	2	5	rs41305578	byFrequency	TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr1:248309107C>T	ENST00000366476.1	+	1	658	c.658C>T	c.(658-660)Cga>Tga	p.R220*		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TTCCTATGCTCGAGTTATTCT	0.428													6	311					0	0	1	0	0	T	248309107	C	T	248309107	4	4	187	1	0	0	0	0	0	1	0	0	11061	876	31	1	660	1	OR2M5	1	248309107	Nonsense_Mutation	SNP	C	TCGA-HC-7818-01A-11D-2114-08	10644926	248309107	941514	5	8675											
RSAD2	91543	broad.mit.edu	37	chr2	7030377	7030377	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagagaagcagaaagatttgTtattggtgatgaagaatttg	16	12	12	1	0	0	6	0	2	0	4	0	7	0	6	0	1	1	2	0	1	6	4			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr2:7030377T>C	ENST00000382040.3	+	4	945	c.809T>C	c.(808-810)gTt>gCt	p.V270A	RSAD2_ENST00000541728.1_Missense_Mutation_p.V163A	NM_080657.4	NP_542388.2	Q8WXG1	RSAD2_HUMAN	radical S-adenosyl methionine domain containing 2	270					defense response to virus	endoplasmic reticulum membrane|Golgi apparatus	catalytic activity|iron-sulfur cluster binding|metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		GAAAGATTTGTTATTGGTGAT	0.413													4	84					0	0	1	0	0	C	7030377	T	C	7030377	3	2	187	1	0	0	0	0	1	0	0	0	13747	1725	60	3	823	3	RSAD2	2	7030377	Missense_Mutation	SNP	T	TCGA-HC-7818-01A-11D-2114-08		7030377	236168996	6	8676											
SESTD1	91404	broad.mit.edu	37	chr2	180008456	180008456	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtgcaagaagttcatcatCcataggagaccatgaaaccc	14	8	8	11	0	2	3	2	1	0	2	3	4	3	3	3	1	2	2	3	1	4	2			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr2:180008456C>A	ENST00000428443.3	-	9	1028	c.712G>T	c.(712-714)Gat>Tat	p.D238Y		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	238					regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			AGTTCATCATCCATAGGAGAC	0.428													5	91					1.024e-07	1.29347e-07	1	1	0	A	180008456	C	A	180008456	3	1	187	1	0	0	0	0	1	0	0	0	14181	855	30	4	1418	4	SESTD1	2	180008456	Missense_Mutation	SNP	C	TCGA-HC-7818-01A-11D-2114-08	172978079	180008456	63190917	7	8677											
SETD2	29072	broad.mit.edu	37	chr3	47163454	47163454	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agagagttagactgtccaccTttattcctggtggaagactc	10	12	10	9	0	0	3	0	0	0	3	3	5	2	4	3	2	0	1	3	2	3	4			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr3:47163454T>A	ENST00000409792.3	-	3	2714	c.2672A>T	c.(2671-2673)aAg>aTg	p.K891M		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	891					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		ACTGTCCACCTTTATTCCTGG	0.388			"N, F, S, Mis"		clear cell renal carcinoma								13	82					0	0	1	0	0	A	47163454	T	A	47163454	3	1	187	1	0	0	0	0	1	0	0	0	14185	1609	56	5	5098	5	SETD2	3	47163454	Missense_Mutation	SNP	T	TCGA-HC-7818-01A-11D-2114-08		47163454	150858976	8	8678											
KLHL8	57563	broad.mit.edu	37	chr4	88116634	88116634	+	Frame_Shift_Del	DEL	T	T	-																															ttgctggtgctgttgttgccTtttcccctttgtaatgtgat																										TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr4:88116634delT	ENST00000273963.5	-	2	399	c.58delA	c.(58-60)ggfs	p.R20fs	KLHL8_ENST00000425278.2_Frame_Shift_Del_p.R20fs|KLHL8_ENST00000545252.1_5'UTR|KLHL8_ENST00000498875.2_Frame_Shift_Del_p.R20fs|KLHL8_ENST00000512111.1_Frame_Shift_Del_p.R20fs	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN	kelch-like family member 8	20										breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		TGTTGTTGCCTTTTCCCCTTT	0.363													7	230	---	---	---	---						-	88116634	T	-	88116634	7	5	187	1	0	1	0	1	0	0	0	0	8438	1608	56	0	1840	0	KLHL8	4	88116634	Frame_Shift_Del	DEL	T	TCGA-HC-7818-01A-11D-2114-08		88116634	103037642	9	8679											
FABP2	2169	broad.mit.edu	37	chr4	120240226	120240226	+	Frame_Shift_Del	DEL	T	T	-																															ttaaagatccttttggcttcTactccttcatatacataagt																										TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr4:120240226delT	ENST00000274024.3	-	4	656	c.369delA	c.(367-369)gtfs	p.V123fs		NM_000134.3	NP_000125.2	P12104	FABPI_HUMAN	fatty acid binding protein 2, intestinal	123							fatty acid binding			breast(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1)	8						TTTTGGCTTCTACTCCTTCAT	0.294													14	161	---	---	---	---						-	120240226	T	-	120240226	7	5	187	1	0	1	0	1	0	0	0	0	5388	1509	53	0	33	0	FABP2	4	120240226	Frame_Shift_Del	DEL	T	TCGA-HC-7818-01A-11D-2114-08	32123592	120240226	70914050	10	8680											
PCDHGC3	0	broad.mit.edu	37	chr5	140857775	140857775	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccttttatctacttctttctCtaatcctggtttctgtgggg	4	20	7	10	0	4	0	0	0	4	0	6	0	5	0	2	3	1	1	2	3	3	7			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr5:140857775C>G	ENST00000308177.3	+	1	2196	c.2092C>G	c.(2092-2094)Cta>Gta	p.L698V	PCDHGA12_ENST00000252085.3_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTTCTTTCTCTAATCCTGGT	0.498											OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	299					0	0	1	0	0	G	140857775	C	G	140857775	3	3	187	1	0	0	0	0	1	0	0	0	11616	912	32	4	2094	4	PCDHGC3	5	140857775	Missense_Mutation	SNP	C	TCGA-HC-7818-01A-11D-2114-08		140857775	40057485	11	8681											
DAXX	1616	broad.mit.edu	37	chr6	33287278	33287278	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggaagtagaagagaccaTgcctgctccattctctaaga	14	8	10	9	0	1	3	0	0	1	3	3	6	2	4	3	1	2	2	3	1	5	3			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr6:33287278T>C	ENST00000374542.5	-	6	2023	c.1819A>G	c.(1819-1821)Atg>Gtg	p.M607V	DAXX_ENST00000414083.2_Missense_Mutation_p.M532V|DAXX_ENST00000266000.6_Missense_Mutation_p.M607V	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	607	Interaction with MAP3K5.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						GAAGAGACCATGCCTGCTCCA	0.522			"Mis, F, N"		Pancreatic neuroendocrine tumors. Paediatric GBM								6	71					0	0	1	0	0	C	33287278	T	C	33287278	3	2	187	1	0	0	0	0	1	0	0	0	4267	1464	51	3	415	3	DAXX	6	33287278	Missense_Mutation	SNP	T	TCGA-HC-7818-01A-11D-2114-08		33287278	137827789	12	8682											
CHCHD2	51142	broad.mit.edu	37	chr7	56172077	56172077	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctggctgccggggcgcagCagcagaagagccaactgcag	10	3	15	13	2	0	2	0	0	0	2	0	2	0	2	3	3	6	5	3	3	2	0			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr7:56172077C>A	ENST00000395422.3	-	2	304	c.142G>T	c.(142-144)Gct>Tct	p.A48S		NM_016139.2	NP_057223.1	Q9Y6H1	CHCH2_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 2	48						mitochondrion				endometrium(1)|large_intestine(1)|lung(3)	5	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CGGGGCGCAGCAGCAGAAGAG	0.657													3	21					2.56e-06	2.92571e-06	1	1	0	A	56172077	C	A	56172077	3	1	187	1	0	0	0	0	1	0	0	0	3338	710	25	4	325	4	CHCHD2	7	56172077	Missense_Mutation	SNP	C	TCGA-HC-7818-01A-11D-2114-08		56172077	102966586	13	8683											
NRCAM	4897	broad.mit.edu	37	chr7	107816881	107816881	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catacccatcttaccttcatCcacagttgttactgcttcct	8	15	3	15	0	2	0	1	0	1	0	4	0	4	0	4	0	4	3	4	0	3	6			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr7:107816881C>A	ENST00000379028.3	-	27	3615	c.3145G>T	c.(3145-3147)Gat>Tat	p.D1049Y	NRCAM_ENST00000425651.2_Missense_Mutation_p.D1049Y|NRCAM_ENST00000413765.2_Missense_Mutation_p.D1030Y|NRCAM_ENST00000379022.4_Missense_Mutation_p.D1049Y|NRCAM_ENST00000351718.4_Missense_Mutation_p.D1033Y|NRCAM_ENST00000379024.4_Missense_Mutation_p.D1030Y			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	1049					angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TTACCTTCATCCACAGTTGTT	0.308													6	111					2.0095e-06	2.35258e-06	1	1	0	A	107816881	C	A	107816881	3	1	187	1	0	0	0	0	1	0	0	0	10692	855	30	4	827	4	NRCAM	7	107816881	Missense_Mutation	SNP	C	TCGA-HC-7818-01A-11D-2114-08	51644804	107816881	51321782	14	8684											
DLC1	10395	broad.mit.edu	37	chr8	12957624	12957624	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgactggctgctgctgctgCtggtctgcgtggagttggaa	4	11	16	10	2	1	0	0	0	1	0	1	3	1	2	1	4	5	6	1	4	1	1			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr8:12957624C>G	ENST00000276297.4	-	9	2631	c.2222G>C	c.(2221-2223)aGc>aCc	p.S741T	DLC1_ENST00000520226.1_Missense_Mutation_p.S230T|DLC1_ENST00000358919.2_Missense_Mutation_p.S304T|DLC1_ENST00000512044.2_Missense_Mutation_p.S338T	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	741	Poly-Ser.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GCTGCTGCTGCTGGTCTGCGT	0.627													3	40					0	0	1	0	0	G	12957624	C	G	12957624	3	3	187	1	0	0	0	0	1	0	0	0	4578	797	28	4	2404	4	DLC1	8	12957624	Missense_Mutation	SNP	C	TCGA-HC-7818-01A-11D-2114-08		12957624	133406398	15	8685											
ZHX1	11244	broad.mit.edu	37	chr8	124267245	124267245	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcttgagcagaaagaactgtAatttctgacattgttgggta	12	13	11	5	0	1	4	0	2	1	2	1	4	1	4	0	1	2	5	0	1	4	6			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr8:124267245A>G	ENST00000395571.3	-	3	1559	c.942T>C	c.(940-942)atT>atC	p.I314I	ZHX1_ENST00000522655.1_Silent_p.I314I|ZHX1_ENST00000297857.2_Silent_p.I314I|ZHX1-C8ORF76_ENST00000357082.4_Intron	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	314	Required for dimerization.|Required for interaction with NFYA.				negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			AAAGAACTGTAATTTCTGACA	0.403													8	274					0	0	1	0	0	G	124267245	A	G	124267245	2	3	187	1	0	0	0	0	0	0	0	1	17733	358	13	3		3	ZHX1	8	124267245	Silent	SNP	A	TCGA-HC-7818-01A-11D-2114-08	111309621	124267245	22096777	16	8686											
ZNF484	83744	broad.mit.edu	37	chr9	95610657	95610657	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttgttaatgaagacaacacGacttaaaggtttgttctggt	12	14	9	6	1	1	2	0	1	1	1	1	3	1	2	0	2	1	3	0	2	5	5			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr9:95610657G>A	ENST00000395505.2	-	3	396	c.304C>T	c.(304-306)Cgt>Tgt	p.R102C	ZNF484_ENST00000395506.3_Missense_Mutation_p.R140C|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000375495.3_Missense_Mutation_p.R138C|ZNF484_ENST00000332591.6_Missense_Mutation_p.R102C	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R138C(2)		NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						AAGACAACACGACTTAAAGGT	0.368													6	126					0	0	1	0	0	A	95610657	G	A	95610657	3	1	187	1	0	0	0	0	1	0	0	0	17994	1058	37	1	2150	1	ZNF484	9	95610657	Missense_Mutation	SNP	G	TCGA-HC-7818-01A-11D-2114-08		95610657	45602774	17	8687											
GRIN1	2902	broad.mit.edu	37	chr9	140056884	140056886	+	In_Frame_Del	DEL	GAG	GAG	-																															gccggttcaaggtgaacagcGaggaggaggaggaggacgca																										TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr9:140056884_140056886delGAG	ENST00000371561.3	+	13	2877_2879	c.1780_1782delGAG	c.(1780-1782)del	p.E598del	GRIN1_ENST00000371560.3_In_Frame_Del_p.E619del|GRIN1_ENST00000371555.4_In_Frame_Del_p.E619del|GRIN1_ENST00000371559.4_In_Frame_Del_p.E598del|GRIN1_ENST00000315048.3_In_Frame_Del_p.E598del|GRIN1_ENST00000371546.4_In_Frame_Del_p.E619del|GRIN1_ENST00000371550.4_In_Frame_Del_p.E598del|GRIN1_ENST00000350902.5_In_Frame_Del_p.E598del|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371553.3_In_Frame_Del_p.E619del	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	598					ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	GGTGAACAGCGAGGAGGAGGAGG	0.739													8	53	---	---	---	---						-	140056886	GAG	-	140056884	7	5	187	1	0	1	0	1	0	0	0	0	6819	1059	37	0	1897	0	GRIN1	9	140056884	In_Frame_Del	DEL	GAG	TCGA-HC-7818-01A-11D-2114-08	44446227	140056884	1156547	18	8688											
RNF208	727800	broad.mit.edu	37	chr9	140115423	140115424	+	Frame_Shift_Ins	INS	-	-	C																															cccttccaaggcaggcatgtINScccccccacaggcctggttg																										TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr9:140115423_140115424insC	ENST00000392827.1	-	2	409_410	c.241_242insG	c.(241-243)catfs	p.H81fs	RNF208_ENST00000391553.1_Frame_Shift_Ins_p.H81fs			Q9H0X6	RN208_HUMAN	ring finger protein 208	81							zinc ion binding			lung(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GGCAGGCATGTCCCCCCCACAG	0.688													2	4	---	---	---	---						C	140115424	-	C	140115423	7	5	187	1	0	1	1	0	0	0	0	0	13527	1667	58	0	547	0	RNF208	9	140115423	Frame_Shift_Ins	INS	-	TCGA-HC-7818-01A-11D-2114-08	58539	140115423	1098008	19	8689											
GAD2	2572	broad.mit.edu	37	chr10	26559616	26559616	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagctggaaccaccgtgtaCggagcatttgaccccctctt	9	9	9	14	2	1	1	0	1	1	0	1	3	1	3	4	2	4	3	4	2	2	3			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr10:26559616C>T	ENST00000376261.3	+	10	1526	c.1023C>T	c.(1021-1023)taC>taT	p.Y341Y	GAD2_ENST00000259271.3_Silent_p.Y341Y	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	341					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	CCACCGTGTACGGAGCATTTG	0.478													15	154					0	0	1	0	0	T	26559616	C	T	26559616	2	4	187	1	0	0	0	0	0	0	0	1	6215	547	19	1		1	GAD2	10	26559616	Silent	SNP	C	TCGA-HC-7818-01A-11D-2114-08		26559616	108975131	20	8690											
CDH23	64072	broad.mit.edu	37	chr10	73565668	73565668	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgaagactgcgggcaaccggGactgggagttcttcatcatc	9	9	13	10	2	3	2	2	1	1	1	4	4	3	4	1	3	2	2	1	3	2	2			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr10:73565668G>T	ENST00000224721.6	+	55	7998	c.7993G>T	c.(7993-7995)Gac>Tac	p.D2665Y	CDH23_ENST00000398788.3_Missense_Mutation_p.D420Y|CDH23_ENST00000475158.1_3'UTR	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2660	Cadherin 25.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GGGCAACCGGGACTGGGAGTT	0.652													3	31					1	1	1	1	0	T	73565668	G	T	73565668	3	4	187	1	0	0	0	0	1	0	0	0	3130	1174	41	4	8541	4	CDH23	10	73565668	Missense_Mutation	SNP	G	TCGA-HC-7818-01A-11D-2114-08	47006052	73565668	61969079	21	8691											
SLIT1	6585	broad.mit.edu	37	chr10	98806792	98806792	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaaacatcccagtggcctcCaggatggaaatctcattgtt	11	12	8	10	0	1	0	1	0	1	0	4	2	3	2	3	3	1	1	3	3	3	3			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr10:98806792C>T	ENST00000266058.4	-	17	1910	c.1665G>A	c.(1663-1665)ctG>ctA	p.L555L	SLIT1_ENST00000371070.4_Silent_p.L555L|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	555					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CAGTGGCCTCCAGGATGGAAA	0.423													5	53					0	0	1	0	0	T	98806792	C	T	98806792	2	4	187	1	0	0	0	0	0	0	0	1	14793	581	21	2		2	SLIT1	10	98806792	Silent	SNP	C	TCGA-HC-7818-01A-11D-2114-08	25241124	98806792	36727955	22	8692											
PRMT3	10196	broad.mit.edu	37	chr11	20409624	20409624	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactgtcggacagcggggacGaggccgcctgggaggatgag	9	4	19	9	4	0	1	0	1	0	0	1	6	0	5	2	6	2	0	2	6	1	0			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr11:20409624G>T	ENST00000331079.6	+	2	305	c.88G>T	c.(88-90)Gag>Tag	p.E30*	PRMT3_ENST00000437750.2_Intron	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779.1	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	30							zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						CAGCGGGGACGAGGCCGCCTG	0.647													7	53					2.0095e-06	2.35258e-06	1	1	0	T	20409624	G	T	20409624	4	4	187	1	0	0	0	0	0	1	0	0	12590	1059	37	4	94	4	PRMT3	11	20409624	Nonsense_Mutation	SNP	G	TCGA-HC-7818-01A-11D-2114-08		20409624	114596892	23	8693											
CARD16	114769	broad.mit.edu	37	chr11	104915359	104915359	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acccatggaatggataaacaGctttctcttctccttcagga	11	12	7	11	0	3	0	1	0	2	0	5	3	3	3	2	3	2	1	2	3	3	4			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr11:104915359G>T	ENST00000375706.2	-	2	51	c.34C>A	c.(34-36)Ctg>Atg	p.L12M	CASP1_ENST00000415981.2_Intron|CARD16_ENST00000375704.3_Missense_Mutation_p.L12M|CARD16_ENST00000525374.1_Missense_Mutation_p.L12M|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000593315.1_Intron|CASP1_ENST00000598974.1_Intron	NM_001017534.1	NP_001017534.1			caspase recruitment domain family, member 16											endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	11						TGGATAAACAGCTTTCTCTTC	0.418													21	220					1.55469e-16	2.0169e-16	1	1	0	T	104915359	G	T	104915359	3	4	187	1	0	0	0	0	1	0	0	0	2665	962	34	4	591	4	CARD16	11	104915359	Missense_Mutation	SNP	G	TCGA-HC-7818-01A-11D-2114-08	84505735	104915359	30091157	24	8694											
DSCAML1	57453	broad.mit.edu	37	chr11	117332280	117332280	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacgtcagaagtgatggacaGggcccggacgttctcagggg	9	6	16	10	3	2	2	2	1	1	1	3	4	2	4	1	5	0	1	1	5	1	1			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr11:117332280G>A	ENST00000321322.6	-	18	3479	c.3478C>T	c.(3478-3480)Ctg>Ttg	p.L1160L	DSCAML1_ENST00000527706.1_Silent_p.L890L	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1100	Fibronectin type-III 3.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GTGATGGACAGGGCCCGGACG	0.607													3	89					0	0	1	0	0	A	117332280	G	A	117332280	2	1	187	1	0	0	0	0	0	0	0	1	4795	991	35	2		2	DSCAML1	11	117332280	Silent	SNP	G	TCGA-HC-7818-01A-11D-2114-08	12416921	117332280	17674236	25	8695											
TARBP2	6895	broad.mit.edu	37	chr12	53897517	53897517	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctttttctcccctagactCttcactgcctgaggacattc	6	16	5	14	0	4	2	1	1	3	1	6	3	4	3	3	1	1	0	3	1	1	6			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr12:53897517C>G	ENST00000266987.2	+	4	830	c.347C>G	c.(346-348)tCt>tGt	p.S116C	TARBP2_ENST00000394357.2_Missense_Mutation_p.S95C|TARBP2_ENST00000456234.2_Missense_Mutation_p.S95C|TARBP2_ENST00000552857.1_Missense_Mutation_p.S25C	NM_134323.1	NP_599150.1	Q15633	TRBP2_HUMAN	TAR (HIV-1) RNA binding protein 2	116					miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)	10						CCCCTAGACTCTTCACTGCCT	0.557													5	127					0	0	1	0	0	G	53897517	C	G	53897517	3	3	187	1	0	0	0	0	1	0	0	0	15613	913	32	4	361	4	TARBP2	12	53897517	Missense_Mutation	SNP	C	TCGA-HC-7818-01A-11D-2114-08		53897517	79954378	26	8696											
GPR84	0	broad.mit.edu	37	chr12	54757587	54757587	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcaacataacgatagcccaGcacagactcatggtagcagg	14	6	10	11	1	1	1	1	0	0	1	1	2	1	1	1	2	6	4	1	2	4	3			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr12:54757587G>A	ENST00000551809.1	-	1	684	c.49C>T	c.(49-51)Ctg>Ttg	p.L17L	GPR84_ENST00000267015.3_Silent_p.L17L|RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	17						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						CGATAGCCCAGCACAGACTCA	0.557													3	39					0	0	1	0	0	A	54757587	G	A	54757587	2	1	187	1	0	0	0	0	0	0	0	1	6754	962	34	2		2	GPR84	12	54757587	Silent	SNP	G	TCGA-HC-7818-01A-11D-2114-08	860070	54757587	79094308	27	8697											
MGAT4C	25834	broad.mit.edu	37	chr12	86374058	86374058	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcctggaccatggcatcaCgccaggaagaattaaagtct	13	9	9	10	1	2	1	1	0	1	1	3	3	3	3	3	3	0	1	3	3	5	2			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr12:86374058C>T	ENST00000604798.1	-	8	1650	c.446G>A	c.(445-447)cGt>cAt	p.R149H	MGAT4C_ENST00000548651.1_Missense_Mutation_p.R149H|MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000393205.2_Missense_Mutation_p.R178H|MGAT4C_ENST00000552808.2_Missense_Mutation_p.R149H|MGAT4C_ENST00000549405.2_Missense_Mutation_p.R149H|MGAT4C_ENST00000332156.1_Missense_Mutation_p.R149H			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	149					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	p.R149H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CATGGCATCACGCCAGGAAGA	0.398													7	77					0	0	1	0	0	T	86374058	C	T	86374058	3	4	187	1	0	0	0	0	1	0	0	0	9597	536	19	1	994	1	MGAT4C	12	86374058	Missense_Mutation	SNP	C	TCGA-HC-7818-01A-11D-2114-08	31616471	86374058	47477837	28	8698											
ZBTB4	57659	broad.mit.edu	37	chr17	7366047	7366047	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccggcccgggagctgtgggAgcccccaccgtgggcctctt	3	7	15	16	3	1	0	0	0	1	0	2	2	2	2	6	4	2	1	6	4	0	1			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr17:7366047A>C	ENST00000311403.4	-	4	2593	c.2254T>G	c.(2254-2256)Tcc>Gcc	p.S752A	ZBTB4_ENST00000380599.4_Missense_Mutation_p.S752A	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	752					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		GAGCTGTGGGAGCCCCCACCG	0.701													4	83					0	0	1	0	0	C	7366047	A	C	7366047	3	2	187	1	0	0	0	0	1	0	0	0	17600	304	11	5	791	5	ZBTB4	17	7366047	Missense_Mutation	SNP	A	TCGA-HC-7818-01A-11D-2114-08		7366047	73829163	29	8699											
MYH2	4620	broad.mit.edu	37	chr17	10442558	10442558	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcaatgtccaagaccccGatgaagtactgcctgggctg	10	7	11	13	1	0	2	0	1	0	1	1	3	1	2	5	1	3	3	5	1	4	1			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr17:10442558G>T	ENST00000245503.5	-	14	1764	c.1380C>A	c.(1378-1380)atC>atA	p.I460I	MYH2_ENST00000397183.2_Silent_p.I460I|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Silent_p.I460I	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	460	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.I460M(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CCAAGACCCCGATGAAGTACT	0.478													7	196					2.27111e-07	2.79521e-07	1	1	0	T	10442558	G	T	10442558	2	4	187	1	0	0	0	0	0	0	0	1	10083	1048	37	4		4	MYH2	17	10442558	Silent	SNP	G	TCGA-HC-7818-01A-11D-2114-08	3076511	10442558	70752652	30	8700											
LHX1	3975	broad.mit.edu	37	chr17	35295534	35295534	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaaaggcccatcctggacCgctttctcttgaacgtgctg	8	10	10	13	2	1	1	0	1	1	0	3	2	2	2	3	2	2	3	3	2	3	2			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr17:35295534C>A	ENST00000254457.5	+	1	1451	c.40C>A	c.(40-42)Cgc>Agc	p.R14S		NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	14	LIM zinc-binding 1.				cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				CATCCTGGACCGCTTTCTCTT	0.567													3	88					0.150653	0.157204	1	1	0	A	35295534	C	A	35295534	3	1	187	1	0	0	0	0	1	0	0	0	8810	652	23	4	42	4	LHX1	17	35295534	Missense_Mutation	SNP	C	TCGA-HC-7818-01A-11D-2114-08	24852976	35295534	45899676	31	8701											
KRTAP3-1	83896	broad.mit.edu	37	chr17	39165307	39165307	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggtggggacgctgcaggagCggagagcacagcaatacatg	11	4	17	9	3	0	1	0	0	0	1	0	4	0	3	0	5	5	4	0	5	2	1	rs141325742	byFrequency	TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr17:39165307C>T	ENST00000391588.1	-	1	59	c.20G>A	c.(19-21)cGc>cAc	p.R7H	KRTAP3-1_ENST00000581033.1_Intron	NM_031958.1	NP_114164.1	Q9BYR8	KRA31_HUMAN	keratin associated protein 3-1	7	4 X 5 AA repeats of C-C-X(3).					keratin filament	structural molecule activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00043)				GCTGCAGGAGCGGAGAGCACA	0.552													10	108					0	0	1	0	0	T	39165307	C	T	39165307	3	4	187	1	0	0	0	0	1	0	0	0	8589	768	27	1	280	1	KRTAP3-1	17	39165307	Missense_Mutation	SNP	C	TCGA-HC-7818-01A-11D-2114-08	3869773	39165307	42029903	32	8702											
ALPK2	115701	broad.mit.edu	37	chr18	56203463	56203463	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tccaatgtacactgatggtgGgctcttcgcctttatggctt	6	15	10	10	1	1	1	0	1	1	0	3	1	2	1	2	3	1	3	2	3	3	5			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr18:56203463G>C	ENST00000361673.3	-	5	4169	c.3956C>G	c.(3955-3957)cCc>cGc	p.P1319R	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1319							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						ACTGATGGTGGGCTCTTCGCC	0.517													3	90					0	0	1	0	0	C	56203463	G	C	56203463	3	2	187	1	0	0	0	0	1	0	0	0	541	1232	43	4	2592	4	ALPK2	18	56203463	Missense_Mutation	SNP	G	TCGA-HC-7818-01A-11D-2114-08		56203463	21873785	33	8703											
ZNF878	729747	broad.mit.edu	37	chr19	12155304	12155305	+	Frame_Shift_Del	DEL	TT	TT	-																															tagggtttctctccagtgtgTtttctttcatgtactcgcag																										TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr19:12155304_12155305delTT	ENST00000602107.1	-	5	1051_1052	c.1052_1053delAA	c.(1051-1053)afs	p.K351fs	ZNF878_ENST00000547628.1_Frame_Shift_Del_p.K304fs|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA			C9JN71	ZN878_HUMAN	zinc finger protein 878	304					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						CTCCAGTGTGTTTTCTTTCATG	0.416													9	107	---	---	---	---						-	12155305	TT	-	12155304	7	5	187	1	0	1	0	1	0	0	0	0	18239	1722	60	0	687	0	ZNF878	19	12155304	Frame_Shift_Del	DEL	TT	TCGA-HC-7818-01A-11D-2114-08		12155304	46973679	34	8704											
UNC13A	23025	broad.mit.edu	37	chr19	17743610	17743610	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcagggtactcaggcacgcGgtccttgaaggcgggaagtt	8	7	16	10	4	1	1	1	1	0	0	2	2	2	2	1	5	1	4	1	5	3	3			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr19:17743610G>A	ENST00000428389.2	-	29	3672	c.3673C>T	c.(3673-3675)Cgc>Tgc	p.R1225C	UNC13A_ENST00000519716.2_Missense_Mutation_p.R1137C|UNC13A_ENST00000252773.7_Missense_Mutation_p.R1137C|UNC13A_ENST00000552293.1_Missense_Mutation_p.R1137C|UNC13A_ENST00000551649.1_Missense_Mutation_p.R1137C|UNC13A_ENST00000550896.1_Missense_Mutation_p.R1135C			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1137	MHD1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						TCAGGCACGCGGTCCTTGAAG	0.542													4	81					0	0	1	0	0	A	17743610	G	A	17743610	3	1	187	1	0	0	0	0	1	0	0	0	17044	1116	39	1	1766	1	UNC13A	19	17743610	Missense_Mutation	SNP	G	TCGA-HC-7818-01A-11D-2114-08	5588306	17743610	41385373	35	8705											
WDR62	284403	broad.mit.edu	37	chr19	36582178	36582178	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcagtgattgacttttactCgggcgagtgcattgccaaga	9	12	11	9	2	1	3	1	2	0	1	2	4	1	3	1	1	3	1	1	1	2	4			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr19:36582178C>T	ENST00000401500.2	+	17	2146	c.2111C>T	c.(2110-2112)tCg>tTg	p.S704L	WDR62_ENST00000270301.7_Missense_Mutation_p.S704L	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	704					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GACTTTTACTCGGGCGAGTGC	0.582													5	72					0	0	1	0	0	T	36582178	C	T	36582178	3	4	187	1	0	0	0	0	1	0	0	0	17373	893	31	1	2177	1	WDR62	19	36582178	Missense_Mutation	SNP	C	TCGA-HC-7818-01A-11D-2114-08	18838568	36582178	22546805	36	8706											
ZNF546	339327	broad.mit.edu	37	chr19	40521135	40521135	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattcgtagcactcatctcaCgcaacatcacagaattcata	14	11	4	12	2	4	1	4	0	1	1	6	1	4	1	0	0	2	3	0	0	5	5	rs111889850	byFrequency	TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr19:40521135C>T	ENST00000347077.4	+	7	2174	c.1958C>T	c.(1957-1959)aCg>aTg	p.T653M	ZNF546_ENST00000600094.1_Missense_Mutation_p.T627M|ZNF546_ENST00000596894.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	653					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					ACTCATCTCACGCAACATCAC	0.418													5	67					0	0	1	0	0	T	40521135	C	T	40521135	3	4	187	1	0	0	0	0	1	0	0	0	18035	536	19	1	1976	1	ZNF546	19	40521135	Missense_Mutation	SNP	C	TCGA-HC-7818-01A-11D-2114-08	3938957	40521135	18607848	37	8707											
MYBPC2	4606	broad.mit.edu	37	chr19	50957350	50957350	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagctttgtgattgagagtgCgcagcgggaagacgagggcc	9	7	17	8	3	0	3	0	2	0	2	0	6	0	4	1	2	3	2	1	2	1	2			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr19:50957350C>T	ENST00000357701.5	+	17	1874	c.1823C>T	c.(1822-1824)gCg>gTg	p.A608V		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	608	Ig-like C2-type 5.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		ATTGAGAGTGCGCAGCGGGAA	0.602													4	20					0	0	1	0	0	T	50957350	C	T	50957350	3	4	187	1	0	0	0	0	1	0	0	0	10060	768	27	1	1889	1	MYBPC2	19	50957350	Missense_Mutation	SNP	C	TCGA-HC-7818-01A-11D-2114-08	10436215	50957350	8171633	38	8708											
ZNF584	201514	broad.mit.edu	37	chr19	58927216	58927216	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgcctctctggcctgcGtctcctcattgcccttctct	1	16	6	18	1	4	0	1	0	3	0	8	0	5	0	5	1	3	0	5	1	0	3			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr19:58927216G>A	ENST00000599238.1	+	4	680	c.214G>A	c.(214-216)Gtc>Atc	p.V72I	ZNF584_ENST00000322834.7_Missense_Mutation_p.R100H|ZNF584_ENST00000596921.1_Intron|ZNF584_ENST00000306910.4_Intron|ZNF584_ENST00000593920.1_Intron			Q8IVC4	ZN584_HUMAN	zinc finger protein 584	0	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271)		TCTGGCCTGCGTCTCCTCATT	0.488													4	50					0	0	1	0	0	A	58927216	G	A	58927216	3	1	187	1	0	0	0	0	1	0	0	0	18073	1160	40	1		1	ZNF584	19	58927216	Missense_Mutation	SNP	G	TCGA-HC-7818-01A-11D-2114-08	7969866	58927216	201767	39	8709											
BAGE2	85319	broad.mit.edu	37	chr21	11085465	11085467	+	RNA	DEL	ACT	ACT	-																															ccaccaccatcaccactaccActaccaccaccaccaccacc																								rs10446208	by1000genomes	TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr21:11085465_11085467delACT	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)		caccactaccactaccaccacca	0.532													4	7	---	---	---	---						-	11085467	ACT	-	11085465	6	5	187	0	1	1	0	1	0	0	0	0	1290	174	6	0		0	BAGE2	21	11085465	RNA	DEL	ACT	TCGA-HC-7818-01A-11D-2114-08		11085465	37044430	40	8710											
POLDIP3	84271	broad.mit.edu	37	chr22	42981905	42981905	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acttcggcaggggggttggaGgaggaggcagagttcaccct	8	7	18	8	1	1	1	1	0	0	1	2	4	1	4	1	8	0	4	1	8	0	3			TCGA-HC-7818-01A-11D-2114-08	TCGA-HC-7818-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e891ad9-b0bd-4fd7-9de1-33f5b0b1d241	906dec9a-0452-40a1-8563-163ca6be1abf	g.chr22:42981905G>A	ENST00000252115.5	-	9	1262	c.1158C>T	c.(1156-1158)tcC>tcT	p.S386S	POLDIP3_ENST00000451060.2_3'UTR|POLDIP3_ENST00000348657.2_Silent_p.S357S|POLDIP3_ENST00000491021.1_5'UTR|POLDIP3_ENST00000339677.6_Intron	NM_032311.3	NP_115687.2	Q9BY77	PDIP3_HUMAN	polymerase (DNA-directed), delta interacting protein 3	386					positive regulation of translation	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						GGGGGTTGGAGGAGGAGGCAG	0.557													3	60					0	0	1	0	0	A	42981905	G	A	42981905	2	1	187	1	0	0	0	0	0	0	0	1	12243	987	35	2		2	POLDIP3	22	42981905	Silent	SNP	G	TCGA-HC-7818-01A-11D-2114-08		42981905	8322661	41	8711											
ARHGEF10L	55160	broad.mit.edu	37	chr1	17953976	17953976	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagctgaccaagagcgtcaGtgaccgcagcagcctcaaca	12	4	11	14	2	2	3	2	2	0	1	2	3	2	3	3	0	5	4	3	0	2	0			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr1:17953976G>T	ENST00000361221.3	+	15	1721	c.1562G>T	c.(1561-1563)aGt>aTt	p.S521I	ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.S521I|ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.S279I|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.S482I|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.S482I|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.S299I|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.S229I	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	521					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		AAGAGCGTCAGTGACCGCAGC	0.667													3	29					0.00024832	0.000276538	0.150653	1	0	T	17953976	G	T	17953976	3	4	188	1	0	0	0	0	1	0	0	0	892	1029	36	4	1616	4	ARHGEF10L	1	17953976	Missense_Mutation	SNP	G	TCGA-HC-7819-01A-11D-2114-08		17953976	231296645	1	8712											
MAST2	23139	broad.mit.edu	37	chr1	46495849	46495849	+	Frame_Shift_Del	DEL	T	T	-																															ctcggaggatgaggaagaagTgagtgaggatggctgccttg																										TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr1:46495849delT	ENST00000361297.2	+	21	2775	c.2492delT	c.(2491-2493)ggfs	p.V831fs	MAST2_ENST00000372008.1_Frame_Shift_Del_p.V716fs|MAST2_ENST00000372009.2_Frame_Shift_Del_p.V761fs|MAST2_ENST00000477968.1_3'UTR	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	831	AGC-kinase C-terminal.				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GAGGAAGAAGTGAGTGAGGAT	0.572													12	90	---	---	---	---						-	46495849	T	-	46495849	7	5	188	1	0	1	0	1	0	0	0	0	9375	1696	59	0	2574	0	MAST2	1	46495849	Frame_Shift_Del	DEL	T	TCGA-HC-7819-01A-11D-2114-08	28541873	46495849	202754772	2	8713											
FCRLA	84824	broad.mit.edu	37	chr1	161683034	161683034	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctctggggatgccagatcCtcatctgtatcaccagatgg	8	11	10	12	0	4	2	2	0	2	2	6	3	6	3	4	3	1	1	4	3	1	1			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr1:161683034C>A	ENST00000540926.1	+	6	1255	c.962C>A	c.(961-963)cCt>cAt	p.P321H	FCRLA_ENST00000309691.6_Missense_Mutation_p.P226H|FCRLA_ENST00000294796.4_Missense_Mutation_p.P181H|FCRLA_ENST00000367953.3_Missense_Mutation_p.P321H|FCRLA_ENST00000236938.6_Missense_Mutation_p.P332H|FCRLA_ENST00000350710.3_Missense_Mutation_p.P97H|FCRLA_ENST00000546024.1_Missense_Mutation_p.P243H|FCRLA_ENST00000540521.1_Missense_Mutation_p.P198H|FCRLA_ENST00000367949.2_Missense_Mutation_p.P148H|FCRLA_ENST00000367950.1_Missense_Mutation_p.P108H|FCRLA_ENST00000367957.2_Missense_Mutation_p.P192H|FCRLA_ENST00000349527.4_Missense_Mutation_p.P220H|FCRLA_ENST00000367959.2_Missense_Mutation_p.P338H|FCRLA_ENST00000470841.1_3'UTR			Q7L513	FCRLA_HUMAN	Fc receptor-like A	315					cell differentiation	cytoplasm|extracellular region				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			ATGCCAGATCCTCATCTGTAT	0.572													3	53					0.00024832	0.000276538	0.150653	1	0	A	161683034	C	A	161683034	3	1	188	1	0	0	0	0	1	0	0	0	5833	681	24	4	1035	4	FCRLA	1	161683034	Missense_Mutation	SNP	C	TCGA-HC-7819-01A-11D-2114-08	115187185	161683034	87567587	3	8714											
APOB	338	broad.mit.edu	37	chr2	21231438	21231440	+	In_Frame_Del	DEL	GAG	GAG	-																															atttgcatctaatgtgaaaaGaggagattggattttcagaa																										TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr2:21231438_21231440delGAG	ENST00000233242.1	-	26	8427_8429	c.8300_8302delCTC	c.(8299-8304)ctt>c	p.PL2767del		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2767					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AATGTGAAAAGAGGAGATTGGAT	0.438													17	184	---	---	---	---						-	21231440	GAG	-	21231438	7	5	188	1	0	1	0	1	0	0	0	0	782	942	33	0	5405	0	APOB	2	21231438	In_Frame_Del	DEL	GAG	TCGA-HC-7819-01A-11D-2114-08		21231438	221967935	4	8715											
ANKAR	150709	broad.mit.edu	37	chr2	190557050	190557050	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agattttaaatgccagaattTtcactacaaagagaatcaat	18	12	5	6	0	2	3	2	0	0	3	2	4	2	3	1	0	2	0	1	0	7	5			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr2:190557050T>C	ENST00000520309.1	+	4	1197	c.1109T>C	c.(1108-1110)tTt>tCt	p.F370S	ANKAR_ENST00000313581.4_Missense_Mutation_p.F370S|ANKAR_ENST00000431575.2_Missense_Mutation_p.F299S|ANKAR_ENST00000281412.6_Missense_Mutation_p.F134S|ANKAR_ENST00000438402.2_Missense_Mutation_p.F370S|ANKAR_ENST00000461516.1_Intron	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	370						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			TGCCAGAATTTTCACTACAAA	0.318													9	40					0	0	0.361761	0	0	C	190557050	T	C	190557050	3	2	188	1	0	0	0	0	1	0	0	0	619	1841	64	3	1119	3	ANKAR	2	190557050	Missense_Mutation	SNP	T	TCGA-HC-7819-01A-11D-2114-08	169325612	190557050	52642323	5	8716											
ANKAR	150709	broad.mit.edu	37	chr2	190584454	190584454	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctaatcaacctactggtttGtgatgagcctgaagtacact	11	13	8	9	0	2	3	1	3	1	0	2	3	2	3	2	1	4	2	2	1	5	4			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr2:190584454G>A	ENST00000520309.1	+	11	2469	c.2381G>A	c.(2380-2382)tGt>tAt	p.C794Y	ANKAR_ENST00000431575.2_Missense_Mutation_p.C723Y|ANKAR_ENST00000281412.6_Missense_Mutation_p.C558Y|ANKAR_ENST00000313581.4_Missense_Mutation_p.C794Y|ANKAR_ENST00000438402.2_Missense_Mutation_p.C794Y	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	794						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			CTACTGGTTTGTGATGAGCCT	0.398													23	41					0	0	0.654019	0	0	A	190584454	G	A	190584454	3	1	188	1	0	0	0	0	1	0	0	0	619	1377	48	2	2419	2	ANKAR	2	190584454	Missense_Mutation	SNP	G	TCGA-HC-7819-01A-11D-2114-08	27404	190584454	52614919	6	8717											
PIKFYVE	200576	broad.mit.edu	37	chr2	209163430	209163439	+	Frame_Shift_Del	DEL	CATCTGTCAG	CATCTGTCAG	-																															tatggtaccttcatatgagaCatctgtcagtccccaggcta																								rs150646524		TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr2:209163430_209163439delCATCTGTCAG	ENST00000264380.4	+	8	1135_1144	c.977_986delCATCTGTCAG	c.(976-987)atfs	p.TSVS326fs	PIKFYVE_ENST00000308862.6_Frame_Shift_Del_p.TSVS240fs|PIKFYVE_ENST00000392202.3_Frame_Shift_Del_p.TSVS229fs|PIKFYVE_ENST00000407449.1_Frame_Shift_Del_p.TSVS326fs	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	326					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	p.S327F(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TCATATGAGACATCTGTCAGTCCCCAGGCT	0.429													23	62	---	---	---	---						-	209163439	CATCTGTCAG	-	209163430	7	5	188	1	0	1	0	1	0	0	0	0	11972	478	17	0	1003	0	PIKFYVE	2	209163430	Frame_Shift_Del	DEL	CATCTGTCAG	TCGA-HC-7819-01A-11D-2114-08	18578976	209163430	34035943	7	8718											
GPR128	84873	broad.mit.edu	37	chr3	100368589	100368589	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcacttgacatattatccaaCgttggatgtgcactgtctgt	9	15	8	9	1	2	1	1	1	1	0	3	2	3	2	1	1	2	2	1	1	3	4			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr3:100368589C>T	ENST00000273352.3	+	11	1585	c.1317C>T	c.(1315-1317)aaC>aaT	p.N439N	GPR128_ENST00000475887.1_Silent_p.N144N	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	439					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						TATTATCCAACGTTGGATGTG	0.373													5	110					0	0	0.248553	0	0	T	100368589	C	T	100368589	2	4	188	1	0	0	0	0	0	0	0	1	6681	535	19	1		1	GPR128	3	100368589	Silent	SNP	C	TCGA-HC-7819-01A-11D-2114-08		100368589	97653841	8	8719											
CP	1356	broad.mit.edu	37	chr3	148924112	148924112	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acactcctggacctggaaaaAggcttgcaaaccggctgaaa	14	6	10	11	1	0	1	0	1	0	0	1	3	1	3	3	4	2	3	3	4	4	1			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr3:148924112A>G	ENST00000264613.6	-	6	1313	c.1051T>C	c.(1051-1053)Ttt>Ctt	p.F351L		NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	351	F5/8 type A 1.|Plastocyanin-like 2.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	ACCTGGAAAAAGGCTTGCAAA	0.433													3	140					0	0	0.184627	0	0	G	148924112	A	G	148924112	3	3	188	1	0	0	0	0	1	0	0	0	3810	72	3	3	2202	3	CP	3	148924112	Missense_Mutation	SNP	A	TCGA-HC-7819-01A-11D-2114-08	48555523	148924112	49098318	9	8720											
ANK2	287	broad.mit.edu	37	chr4	114277273	114277273	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccaaaacagaactcttgaCggaagtggcctctgtgcggt	10	9	12	10	2	2	2	0	1	2	1	2	3	2	3	2	3	4	0	2	3	4	1			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr4:114277273C>T	ENST00000357077.4	+	38	7552	c.7499C>T	c.(7498-7500)aCg>aTg	p.T2500M	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.T2467M|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2467					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GAACTCTTGACGGAAGTGGCC	0.532													13	91					0	0	0.435327	0	0	T	114277273	C	T	114277273	3	4	188	1	0	0	0	0	1	0	0	0	617	536	19	1	7714	1	ANK2	4	114277273	Missense_Mutation	SNP	C	TCGA-HC-7819-01A-11D-2114-08		114277273	76877003	10	8721											
APC	324	broad.mit.edu	37	chr5	112175599	112175600	+	Frame_Shift_Ins	INS	-	-	A																															ccatgccaccaagcagaagtINSaaaacacctccaccacctcc																										TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr5:112175599_112175600insA	ENST00000457016.1	+	16	4688_4689	c.4308_4309insA	c.(4306-4311)agaaacfs	p.N1437fs	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Frame_Shift_Ins_p.N1437fs|APC_ENST00000508376.2_Frame_Shift_Ins_p.N1437fs			P25054	APC_HUMAN	adenomatous polyposis coli	1437	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.S1436fs*37(3)|p.?(1)|p.P1424fs*19(1)|p.K1192fs*3(1)|p.P1432fs*35(1)|p.S1436fs*36(1)|p.S1436fs*33(1)|p.S1436fs*22(1)|p.K1437*(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CAAGCAGAAGTAAAACACCTCC	0.48		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			7	58	---	---	---	---						A	112175600	-	A	112175599	7	5	188	1	0	1	1	0	0	0	0	0	759	1635	57	0	4366	0	APC	5	112175599	Frame_Shift_Ins	INS	-	TCGA-HC-7819-01A-11D-2114-08		112175599	68739661	11	8722											
FAT2	2196	broad.mit.edu	37	chr5	150922048	150922048	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatagctggatggtctgtccGtggtcataggccaccacatg	8	10	13	10	1	2	0	1	0	1	0	3	2	3	1	3	4	1	1	3	4	2	2			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr5:150922048G>A	ENST00000261800.5	-	9	8652	c.8640C>T	c.(8638-8640)caC>caT	p.H2880H		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2880	Cadherin 25.				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)			TGGTCTGTCCGTGGTCATAGG	0.493													4	144					0	0	0.184627	0	0	A	150922048	G	A	150922048	2	1	188	1	0	0	0	0	0	0	0	1	5723	1136	40	1		1	FAT2	5	150922048	Silent	SNP	G	TCGA-HC-7819-01A-11D-2114-08	38746449	150922048	29993212	12	8723											
GALNT10	55568	broad.mit.edu	37	chr5	153760070	153760070	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgatgtaattgaccatgacGactttcggtacgagacacag	12	11	10	8	3	0	4	0	3	0	1	1	6	0	4	1	1	1	2	1	1	2	5			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr5:153760070G>A	ENST00000297107.6	+	6	954	c.817G>A	c.(817-819)Gac>Aac	p.D273N	GALNT10_ENST00000377661.2_Missense_Mutation_p.D211N|GALNT10_ENST00000425427.2_Missense_Mutation_p.D273N|GALNT10_ENST00000519544.1_3'UTR|SAP30L-AS1_ENST00000519727.1_RNA	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)	273						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			TGACCATGACGACTTTCGGTA	0.532													17	185					0	0	0.575678	0	0	A	153760070	G	A	153760070	3	1	188	1	0	0	0	0	1	0	0	0	6248	1058	37	1	839	1	GALNT10	5	153760070	Missense_Mutation	SNP	G	TCGA-HC-7819-01A-11D-2114-08	2838022	153760070	27155190	13	8724											
STK19	8859	broad.mit.edu	37	chr6	31946702	31946702	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcttcaagagcagggggAgatcagaatcgtccagctgg	11	6	16	8	1	2	3	2	0	0	3	4	5	3	4	1	4	3	3	1	4	2	1			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr6:31946702A>G	ENST00000375331.2	+	4	756	c.590A>G	c.(589-591)gAg>gGg	p.E197G	STK19_ENST00000375333.2_Missense_Mutation_p.E197G|STK19_ENST00000463823.1_3'UTR	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	197				QGE -> GQR (in Ref. 6; AAA99716).		nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						GAGCAGGGGGAGATCAGAATC	0.532													3	66					0	0	0.115264	0	0	G	31946702	A	G	31946702	3	3	188	1	0	0	0	0	1	0	0	0	15348	304	11	3	604	3	STK19	6	31946702	Missense_Mutation	SNP	A	TCGA-HC-7819-01A-11D-2114-08		31946702	139168365	14	8725											
SEMA3A	10371	broad.mit.edu	37	chr7	83640389	83640389	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatttttaggatctttaaagTtcattaggaatacatcctct	12	17	6	6	0	3	0	1	0	2	0	4	3	4	2	1	2	1	1	1	2	6	8			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr7:83640389T>G	ENST00000265362.3	-	9	1258	c.944A>C	c.(943-945)aAc>aCc	p.N315T	SEMA3A_ENST00000436949.1_Missense_Mutation_p.N315T	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	315	Sema.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						ATCTTTAAAGTTCATTAGGAA	0.299													6	44					0	0	0.217242	0	0	G	83640389	T	G	83640389	3	3	188	1	0	0	0	0	1	0	0	0	14078	1725	60	5	1407	5	SEMA3A	7	83640389	Missense_Mutation	SNP	T	TCGA-HC-7819-01A-11D-2114-08		83640389	75498274	15	8726											
CCDC132	55610	broad.mit.edu	37	chr7	92883177	92883177	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaatttttttctgtagaagcTtccacctgttctcaatttgc	8	18	6	9	0	2	1	1	0	2	1	4	2	3	1	2	0	2	3	2	0	4	7			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr7:92883177T>G	ENST00000544910.1	+	5	360	c.140T>G	c.(139-141)cTt>cGt	p.L47R	CCDC132_ENST00000317751.6_5'UTR|CCDC132_ENST00000541136.1_5'UTR|CCDC132_ENST00000535481.1_Intron|CCDC132_ENST00000251739.5_Missense_Mutation_p.L77R|CCDC132_ENST00000305866.5_Missense_Mutation_p.L77R	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	77										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			CTGTAGAAGCTTCCACCTGTT	0.338													10	12					0	0	0.435327	0	0	G	92883177	T	G	92883177	3	3	188	1	0	0	0	0	1	0	0	0	2785	1609	56	5	244	5	CCDC132	7	92883177	Missense_Mutation	SNP	T	TCGA-HC-7819-01A-11D-2114-08	9242788	92883177	66255486	16	8727											
SGK3	23678	broad.mit.edu	37	chr8	67705990	67705990	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatgcaaagagatcacaccAtggactacaaggaaagctgc	18	5	9	9	0	1	1	1	0	0	1	1	4	1	3	1	2	4	2	1	2	5	1			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr8:67705990A>G	ENST00000396596.1	+	2	233	c.19A>G	c.(19-21)Atg>Gtg	p.M7V	SGK3_ENST00000521198.2_Missense_Mutation_p.M7V|SGK3_ENST00000522398.1_Missense_Mutation_p.M7V|SGK3_ENST00000520976.1_Missense_Mutation_p.M7V|C8orf44-SGK3_ENST00000519289.1_Missense_Mutation_p.M7V|C8orf44-SGK3_ENST00000520044.1_3'UTR|SGK3_ENST00000345714.4_Missense_Mutation_p.M7V	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase family, member 3	7					cell communication|response to stress	cytoplasmic membrane-bounded vesicle|early endosome	ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			AGATCACACCATGGACTACAA	0.403													16	27					0	0	0.608945	0	0	G	67705990	A	G	67705990	3	3	188	1	0	0	0	0	1	0	0	0	14266	217	8	3	21	3	SGK3	8	67705990	Missense_Mutation	SNP	A	TCGA-HC-7819-01A-11D-2114-08		67705990	78658032	17	8728											
SIRT1	23411	broad.mit.edu	37	chr10	69676124	69676124	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcctctagttcttgtggcaGtaacagtgatagtgggacat	10	13	11	7	0	2	1	0	1	2	0	3	2	3	2	1	2	1	3	1	2	3	5			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr10:69676124G>A	ENST00000212015.6	+	9	2071	c.2018G>A	c.(2017-2019)aGt>aAt	p.S673N	SIRT1_ENST00000406900.1_Missense_Mutation_p.S370N|SIRT1_ENST00000432464.1_Missense_Mutation_p.S378N|SIRT1_ENST00000403579.1_Missense_Mutation_p.S370N	NM_012238.4	NP_036370.2	Q96EB6	SIRT1_HUMAN	sirtuin 1	673					apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation	chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin	bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						TCTTGTGGCAGTAACAGTGAT	0.413													3	87					0	0	0.115264	0	0	A	69676124	G	A	69676124	3	1	188	1	0	0	0	0	1	0	0	0	14392	1029	36	2	2052	2	SIRT1	10	69676124	Missense_Mutation	SNP	G	TCGA-HC-7819-01A-11D-2114-08		69676124	65858623	18	8729											
SNCG	6623	broad.mit.edu	37	chr10	88718535	88718535	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagaccaagcagggggtgacGgaagcagctgagaagaccaa	16	2	15	8	1	0	4	0	2	0	3	0	6	0	5	2	3	3	3	2	3	5	0			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr10:88718535G>A	ENST00000372017.3	+	1	123	c.81G>A	c.(79-81)acG>acA	p.T27T	SNCG_ENST00000348795.4_Silent_p.T27T	NM_003087.2	NP_003078.2	O76070	SYUG_HUMAN	synuclein, gamma (breast cancer-specific protein 1)	27	4 X 11 AA tandem repeats of [EGSA]-K-T-K- [EQ]-[GQ]-V-X(4).					microtubule organizing center|perinuclear region of cytoplasm|spindle	protein binding			endometrium(1)|skin(1)	2						AGGGGGTGACGGAAGCAGCTG	0.597													3	69					0	0	0.217242	0	0	A	88718535	G	A	88718535	2	1	188	1	0	0	0	0	0	0	0	1	14897	1103	39	1		1	SNCG	10	88718535	Silent	SNP	G	TCGA-HC-7819-01A-11D-2114-08	19042411	88718535	46816212	19	8730											
ARMS2	387715	broad.mit.edu	37	chr10	124214267	124214267	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgcctatacccaggaccGatggtaactgaggcggaggg	9	6	15	11	3	0	1	0	1	0	0	0	4	0	3	3	5	3	1	3	5	3	3			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr10:124214267G>T	ENST00000528446.1	+	1	99	c.24G>T	c.(22-24)ccG>ccT	p.P8P		NM_001099667.1	NP_001093137.1	P0C7Q2	ARMS2_HUMAN	age-related maculopathy susceptibility 2	8					retina homeostasis	mitochondrion|photoreceptor inner segment				ovary(1)	1		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				ACCCAGGACCGATGGTAACTG	0.572													3	109					0.115264	0.120169	0.115264	1	0	T	124214267	G	T	124214267	2	4	188	1	0	0	0	0	0	0	0	1	963	1045	37	4		4	ARMS2	10	124214267	Silent	SNP	G	TCGA-HC-7819-01A-11D-2114-08	35495732	124214267	11320480	20	8731											
ATG16L2	89849	broad.mit.edu	37	chr11	72528863	72528865	+	In_Frame_Del	DEL	AGG	AGG	-																															cgcactgagggtgaagtggcAggaggaggaggaggggctcc																										TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr11:72528863_72528865delAGG	ENST00000321297.5	+	3	419_421	c.281_283delAGG	c.(280-285)cag>c	p.QE94del	ATG16L2_ENST00000534905.1_In_Frame_Del_p.QE94del	NM_033388.1	NP_203746.1	Q8NAA4	A16L2_HUMAN	autophagy related 16-like 2 (S. cerevisiae)	94					autophagy|protein transport	cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)			GTGAAGTGGCAGGAGGAGGAGGA	0.591													7	89	---	---	---	---						-	72528865	AGG	-	72528863	7	5	188	1	0	1	0	1	0	0	0	0	1091	188	7	0	291	0	ATG16L2	11	72528863	In_Frame_Del	DEL	AGG	TCGA-HC-7819-01A-11D-2114-08		72528863	62477653	21	8732											
ANGPTL5	253935	broad.mit.edu	37	chr11	101775573	101775573	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaacaggtctgtgaggaaaAggatccagctgttttctaaa	13	11	11	6	0	2	2	0	2	2	0	3	4	3	4	1	3	2	2	1	3	5	3			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr11:101775573A>G	ENST00000334289.3	-	5	1006	c.411T>C	c.(409-411)ccT>ccC	p.P137P		NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5	137					signal transduction	extracellular space	receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		TGTGAGGAAAAGGATCCAGCT	0.358													3	72					0	0	0.184627	0	0	G	101775573	A	G	101775573	2	3	188	1	0	0	0	0	0	0	0	1	613	59	3	3		3	ANGPTL5	11	101775573	Silent	SNP	A	TCGA-HC-7819-01A-11D-2114-08	29246710	101775573	33230943	22	8733											
PRB2	653247	broad.mit.edu	37	chr12	11546788	11546790	+	In_Frame_Del	DEL	GGA	GGA	-																															gtggtccttgtggctttcctGgaggaggtgggggaccttga																										TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr12:11546788_11546790delGGA	ENST00000389362.4	-	3	257_259	c.222_224delTCC	c.(220-225)cca>cc	p.PP74del	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGGCTTTCCTGGAGGAGGTGGGG	0.601													7	308	---	---	---	---						-	11546790	GGA	-	11546788	7	5	188	1	0	1	0	1	0	0	0	0	12495	1348	47	0	1030	0	PRB2	12	11546788	In_Frame_Del	DEL	GGA	TCGA-HC-7819-01A-11D-2114-08		11546788	122305107	23	8734											
SLC15A1	6564	broad.mit.edu	37	chr13	99354751	99354751	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacctgattccattttccccTttttctggcttctggttaag	5	19	6	11	0	2	1	0	1	2	0	4	1	4	1	4	2	1	2	4	2	2	8			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr13:99354751T>C	ENST00000376503.5	-	18	1504	c.1449A>G	c.(1447-1449)aaA>aaG	p.K483K		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	483					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	CATTTTCCCCTTTTTCTGGCT	0.284													3	152					0	0	0.184627	0	0	C	99354751	T	C	99354751	2	2	188	1	0	0	0	0	0	0	0	1	14453	1606	56	3		3	SLC15A1	13	99354751	Silent	SNP	T	TCGA-HC-7819-01A-11D-2114-08		99354751	15815127	24	8735											
LRFN5	145581	broad.mit.edu	37	chr14	42356070	42356070	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccagcttggtggacctgaCtctatccaggaatacaataa	13	9	9	10	0	1	1	0	1	1	0	2	4	2	3	3	3	2	1	3	3	5	4			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr14:42356070C>A	ENST00000554171.1	+	5	2674	c.242C>A	c.(241-243)aCt>aAt	p.T81N	LRFN5_ENST00000554120.1_Missense_Mutation_p.T81N|LRFN5_ENST00000298119.4_Missense_Mutation_p.T81N			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	81						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GTGGACCTGACTCTATCCAGG	0.373										HNSCC(30;0.082)			27	36					5.45727e-16	6.36681e-16	0.729181	1	0	A	42356070	C	A	42356070	3	1	188	1	0	0	0	0	1	0	0	0	8986	565	20	4	244	4	LRFN5	14	42356070	Missense_Mutation	SNP	C	TCGA-HC-7819-01A-11D-2114-08		42356070	64993470	25	8736											
SERPINA6	866	broad.mit.edu	37	chr14	94780979	94780979	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacaggtgtacaggaggaGtggcattgtccagtatagcc	12	8	14	7	0	0	1	0	0	0	1	1	3	1	3	2	4	2	3	2	4	4	4			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr14:94780979G>A	ENST00000341584.3	-	2	153	c.7C>T	c.(7-9)Ctc>Ttc	p.L3F		NM_001756.3	NP_001747.2	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	3					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	TACAGGAGGAGTGGCATTGTC	0.547													14	101					0	0	0.539581	0	0	A	94780979	G	A	94780979	3	1	188	1	0	0	0	0	1	0	0	0	14147	1029	36	2	1226	2	SERPINA6	14	94780979	Missense_Mutation	SNP	G	TCGA-HC-7819-01A-11D-2114-08	52424909	94780979	12568561	26	8737											
CSPG4	1464	broad.mit.edu	37	chr15	75982728	75982728	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtgtggtgagtgtaaactcTagggttccttcgtcctgagt	6	15	13	7	1	1	2	0	2	1	0	4	2	3	2	2	2	1	2	2	2	3	4			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr15:75982728T>C	ENST00000308508.5	-	3	770	c.678A>G	c.(676-678)ctA>ctG	p.L226L		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	226	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GTGTAAACTCTAGGGTTCCTT	0.607													3	24					0	0	0.184627	0	0	C	75982728	T	C	75982728	2	2	188	1	0	0	0	0	0	0	0	1	3985	1509	53	3		3	CSPG4	15	75982728	Silent	SNP	T	TCGA-HC-7819-01A-11D-2114-08		75982728	26548664	27	8738											
CASKIN1	57524	broad.mit.edu	37	chr16	2233835	2233835	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgcatggaaagctcacctcGggagtcatgcggctgatggt	8	8	15	10	3	2	1	2	1	0	0	3	3	2	3	1	4	2	3	1	4	1	0			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr16:2233835G>A	ENST00000343516.6	-	15	1616	c.1524C>T	c.(1522-1524)ccC>ccT	p.P508P	CASKIN1_ENST00000564289.1_Intron	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	508	SAM 1.				signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						AGCTCACCTCGGGAGTCATGC	0.667													3	86					0	0	0.150653	0	0	A	2233835	G	A	2233835	2	1	188	1	0	0	0	0	0	0	0	1	2684	1103	39	1		1	CASKIN1	16	2233835	Silent	SNP	G	TCGA-HC-7819-01A-11D-2114-08		2233835	88120918	28	8739											
SCNN1G	6340	broad.mit.edu	37	chr16	23200962	23200962	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gcttcaaatgtcatgcacatCgagtccaagcaagtggtggg	11	9	12	9	1	2	0	2	0	0	0	4	1	3	0	1	2	2	3	1	2	3	1			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr16:23200962C>G	ENST00000300061.2	+	3	731	c.588C>G	c.(586-588)atC>atG	p.I196M		NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	196					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	TCATGCACATCGAGTCCAAGC	0.517													5	284					0	0	0.217242	0	0	G	23200962	C	G	23200962	3	3	188	1	0	0	0	0	1	0	0	0	13984	874	31	4	594	4	SCNN1G	16	23200962	Missense_Mutation	SNP	C	TCGA-HC-7819-01A-11D-2114-08	20967127	23200962	67153791	29	8740											
SMCR7	0	broad.mit.edu	37	chr17	18167778	18167780	+	In_Frame_Del	DEL	GCT	GCT	-																															gacgctgggactcgccggcgGctgctgctgctgctgtgtgc																										TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr17:18167778_18167780delGCT	ENST00000323019.4	+	4	1276_1278	c.1065_1067delGCT	c.(1063-1068)cgg>cg	p.RL355del	SMCR7_ENST00000395704.4_3'UTR|SMCR7_ENST00000395706.2_In_Frame_Del_p.RL366del	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	SMCR7_HUMAN		355						integral to membrane	protein binding	p.L356R(1)		breast(1)|central_nervous_system(1)|endometrium(3)|lung(4)	9	all_neural(463;0.228)					CTCGCCGGCGGCTGCTGCTGCTG	0.685													7	75	---	---	---	---						-	18167780	GCT	-	18167778	7	5	188	1	0	1	0	1	0	0	0	0	14844	1190	42	0	1112	0	SMCR7	17	18167778	In_Frame_Del	DEL	GCT	TCGA-HC-7819-01A-11D-2114-08		18167778	63027432	30	8741											
LHX1	3975	broad.mit.edu	37	chr17	35297661	35297661	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtgcggagagcgcggagcaAagtgtttcacctgaactgct	9	8	15	9	3	1	2	1	1	0	1	1	4	1	3	1	3	5	3	1	3	2	1			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr17:35297661A>T	ENST00000254457.5	+	2	1656	c.245A>T	c.(244-246)aAa>aTa	p.K82I	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	82	LIM zinc-binding 2.				cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				GCGCGGAGCAAAGTGTTTCAC	0.587													3	21					0	0	0.115264	0	0	T	35297661	A	T	35297661	3	4	188	1	0	0	0	0	1	0	0	0	8810	14	1	5	251	5	LHX1	17	35297661	Missense_Mutation	SNP	A	TCGA-HC-7819-01A-11D-2114-08	17129883	35297661	45897549	31	8742											
RNF43	54894	broad.mit.edu	37	chr17	56434877	56434877	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cggataagggcatggcctgcCctctgcggtgtcagaactcc	7	8	13	13	2	2	1	1	0	1	1	3	2	3	2	3	4	3	1	3	4	2	1			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr17:56434877C>G	ENST00000584437.1	-	8	4215	c.2260G>C	c.(2260-2262)Ggc>Cgc	p.G754R	BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577716.1_Missense_Mutation_p.G754R|RNF43_ENST00000583753.1_Missense_Mutation_p.G713R|RNF43_ENST00000500597.2_Missense_Mutation_p.G713R|RNF43_ENST00000581868.1_Missense_Mutation_p.G627R|RNF43_ENST00000407977.2_Missense_Mutation_p.G754R|RNF43_ENST00000577625.1_Missense_Mutation_p.G627R			Q68DV7	RNF43_HUMAN	ring finger protein 43	754	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CATGGCCTGCCCTCTGCGGTG	0.597													16	99					0	0	0.539581	0	0	G	56434877	C	G	56434877	3	3	188	1	0	0	0	0	1	0	0	0	13547	623	22	4	99	4	RNF43	17	56434877	Missense_Mutation	SNP	C	TCGA-HC-7819-01A-11D-2114-08	21137216	56434877	24760333	32	8743											
TSHZ3	57616	broad.mit.edu	37	chr19	31770234	31770234	+	Silent	SNP	G	G	A																															ctgccacagctgctgctgctGctactgctgctgctgctgct																										TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr19:31770234G>A	ENST00000240587.4	-	2	792	c.465C>T	c.(463-465)agC>agT	p.S155S		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	155	Ser-rich.				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S155S(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					tgctgctgctgctactgctgc	0.612													3	17					0	0	0.115264	0	0	A	31770234	G	A	31770234	2	1	188	1	0	0	0	0	0	0	0	1	16686	1310	46	2		2	TSHZ3	19	31770234	Silent	SNP	G	TCGA-HC-7819-01A-11D-2114-08		31770234	27358749	33	8744	43	2									
TSHZ3	57616	broad.mit.edu	37	chr19	31770237	31770237	+	Silent	SNP	A	A	G																															ccacagctgctgctgctgctActgctgctgctgctgctgcc																										TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr19:31770237A>G	ENST00000240587.4	-	2	789	c.462T>C	c.(460-462)agT>agC	p.S154S		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	154	Ser-rich.				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					tgctgctgctactgctgctgc	0.607													3	18					0	0	0.115264	0	0	G	31770237	A	G	31770237	2	3	188	1	0	0	0	0	0	0	0	1	16686	388	14	3		3	TSHZ3	19	31770237	Silent	SNP	A	TCGA-HC-7819-01A-11D-2114-08	3	31770237	27358746	34	8745	43	2									
LENG8	114823	broad.mit.edu	37	chr19	54969308	54969308	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	catgaagagtttaaccagtgCcagacgcagctcaagtcgct	12	8	10	11	2	1	3	1	1	0	2	2	3	1	3	2	0	3	4	2	0	3	2			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr19:54969308C>G	ENST00000326764.5	+	14	2408	c.1929C>G	c.(1927-1929)tgC>tgG	p.C643W	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	606							protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		TTAACCAGTGCCAGACGCAGC	0.572													13	123					0	0	0.557998	0	0	G	54969308	C	G	54969308	3	3	188	1	0	0	0	0	1	0	0	0	8763	747	26	4	1979	4	LENG8	19	54969308	Missense_Mutation	SNP	C	TCGA-HC-7819-01A-11D-2114-08	23199071	54969308	4159675	35	8746											
PTPRA	0	broad.mit.edu	37	chr20	2988040	2988040	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgaaggggttccagattctGattacatcaatgcttcattc	10	15	8	8	0	3	3	2	2	1	1	5	3	4	3	1	2	2	2	1	2	3	6			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr20:2988040G>A	ENST00000216877.6	+	10	1253	c.853G>A	c.(853-855)Gat>Aat	p.D285N	PTPRA_ENST00000399903.2_Missense_Mutation_p.D294N|PTPRA_ENST00000380393.3_Missense_Mutation_p.D294N|PTPRA_ENST00000356147.3_Missense_Mutation_p.D285N|PTPRA_ENST00000318266.5_Missense_Mutation_p.D285N|PTPRA_ENST00000358719.4_Missense_Mutation_p.D150N|PTPRA_ENST00000425918.2_Missense_Mutation_p.D305N	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	294	Tyrosine-protein phosphatase 1.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TCCAGATTCTGATTACATCAA	0.448													48	95					0	0	0.870114	0	0	A	2988040	G	A	2988040	3	1	188	1	0	0	0	0	1	0	0	0	12847	1290	45	2	910	2	PTPRA	20	2988040	Missense_Mutation	SNP	G	TCGA-HC-7819-01A-11D-2114-08		2988040	60037480	36	8747											
AGPAT3	56894	broad.mit.edu	37	chr21	45379682	45379682	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcacgctggcgctctggccGgtcagcaagcagctctaccg	6	7	13	15	4	3	0	1	0	2	0	3	0	3	0	2	3	5	6	2	3	2	1			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr21:45379682G>A	ENST00000398063.2	+	2	612	c.120G>A	c.(118-120)ccG>ccA	p.P40P	AGPAT3_ENST00000291572.8_Silent_p.P40P|AGPAT3_ENST00000327505.2_Silent_p.P40P|AGPAT3_ENST00000546158.1_Silent_p.P40P|AGPAT3_ENST00000398061.1_Silent_p.P40P|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000398058.1_Silent_p.P40P	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	40					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		CGCTCTGGCCGGTCAGCAAGC	0.647													4	59					0	0	0.150653	0	0	A	45379682	G	A	45379682	2	1	188	1	0	0	0	0	0	0	0	1	385	1103	39	1		1	AGPAT3	21	45379682	Silent	SNP	G	TCGA-HC-7819-01A-11D-2114-08		45379682	2750213	37	8748											
SUMO3	6612	broad.mit.edu	37	chr21	46233855	46233855	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcacaggaccagtgcgcaCacggggaggctctgcggggg	8	3	18	12	4	1	0	0	0	1	0	1	2	1	2	1	6	2	3	1	6	0	0			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr21:46233855C>T	ENST00000411651.2	-	2	298	c.186G>A	c.(184-186)gtG>gtA	p.V62V	SUMO3_ENST00000479153.1_Intron|SUMO3_ENST00000397898.3_Intron|SUMO3_ENST00000332859.6_Intron|SUMO3_ENST00000397893.3_Intron			P55854	SUMO3_HUMAN	small ubiquitin-like modifier 3	50	Ubiquitin-like.				protein sumoylation	cytoplasm|kinetochore	protein binding			prostate(1)	1				Colorectal(79;0.058)		CCAGTGCGCACACGGGGAGGC	0.652													3	33					0	0	0.115264	0	0	T	46233855	C	T	46233855	2	4	188	1	0	0	0	0	0	0	0	1	15445	493	17	2		2	SUMO3	21	46233855	Silent	SNP	C	TCGA-HC-7819-01A-11D-2114-08	854173	46233855	1896040	38	8749											
TPST2	8459	broad.mit.edu	37	chr22	26937482	26937482	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catggccccccgggggctccGcaggcccgccagcaccgccc	4	2	13	22	4	0	0	0	0	0	0	1	0	1	0	8	4	1	3	8	4	0	0			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr22:26937482G>C	ENST00000338754.4	-	3	385	c.115C>G	c.(115-117)Cgg>Ggg	p.R39G	TPST2_ENST00000403880.1_Missense_Mutation_p.R39G|TPST2_ENST00000398110.2_Missense_Mutation_p.R39G	NM_003595.3	NP_003586.3	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2	39					peptidyl-tyrosine sulfation	endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			central_nervous_system(1)|large_intestine(1)|lung(5)	7						CGGGGGCTCCGCAGGCCCGCC	0.701													3	41					0	0	0.115264	0	0	C	26937482	G	C	26937482	3	2	188	1	0	0	0	0	1	0	0	0	16489	1086	38	4	1034	4	TPST2	22	26937482	Missense_Mutation	SNP	G	TCGA-HC-7819-01A-11D-2114-08		26937482	24367084	39	8750											
CELSR1	9620	broad.mit.edu	37	chr22	46785281	46785281	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagcagctggtaggccgtgCgcacgtcattgccaaagagc	9	6	13	13	3	1	1	1	0	0	1	1	1	1	1	3	2	5	4	3	2	2	2			TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	7f5954b3-ce60-414b-bd40-f46175ba19c4	g.chr22:46785281C>A	ENST00000262738.3	-	18	6460	c.6461G>T	c.(6460-6462)cGc>cTc	p.R2154L		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2154					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GTAGGCCGTGCGCACGTCATT	0.672													3	38					0.115264	0.120169	0.115264	1	0	A	46785281	C	A	46785281	3	1	188	1	0	0	0	0	1	0	0	0	3243	768	27	4	2655	4	CELSR1	22	46785281	Missense_Mutation	SNP	C	TCGA-HC-7819-01A-11D-2114-08	19847799	46785281	4519285	40	8751											
TUBGCP6	85378	broad.mit.edu	37	chr22	50659212	50659212	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaagctgatgctggcatcAgacacgtgtccatgggtgtt	8	10	12	11	1	1	2	1	1	0	1	2	2	2	2	2	2	2	4	2	2	1	1	rs141527317		TCGA-HC-7819-01A-11D-2114-08	TCGA-HC-7819-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	997549f6-8dde-4b4a-b477-609a535b301f	db9ab0ec-cd1f-4e69-935e-8e1665d07473	g.chr22:50659212A>G	ENST00000439308.2	-	16	4068	c.3576T>C	c.(3574-3576)tcT>tcC	p.S1192S	TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000248846.5_Silent_p.S1192S	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1192	9 X 27 AA tandem repeats.				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TGCTGGCATCAGACACGTGTC	0.617													4	90					0	0	0.184627	0	0	G	50659212	A	G	50659212	2	3	188	1	0	0	0	0	0	0	0	1	16832	175	7	3		3	TUBGCP6	22	50659212	Silent	SNP	A	TCGA-HC-7819-01A-11D-2114-08	3873931	50659212	645354	41	8752											
CLCNKB	1188	broad.mit.edu	37	chr1	16375645	16375646	+	Frame_Shift_Del	DEL	CC	CC	-																															cagcatcgaggtcatgtcttCccacttctctgtctgggatt																										TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr1:16375645_16375646delCC	ENST00000375679.4	+	8	797_798	c.686_687delCC	c.(685-687)tfs	p.S229fs	CLCNKB_ENST00000375667.3_Frame_Shift_Del_p.S60fs	NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		GTCATGTCTTCCCACTTCTCTG	0.634													23	131	---	---	---	---						-	16375646	CC	-	16375645	7	5	189	1	0	1	0	1	0	0	0	0	3493	855	30	0	860	0	CLCNKB	1	16375645	Frame_Shift_Del	DEL	CC	TCGA-HC-7820-01A-11D-2114-08		16375645	232874976	1	8753											
AKR7L	246181	broad.mit.edu	37	chr1	19597014	19597014	+	RNA	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctcggccacttcccaggcGgcatagttggagaggccaag	9	7	13	12	2	1	1	0	0	1	1	3	2	2	1	3	5	0	2	3	5	2	3			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr1:19597014G>T	ENST00000420396.2	-	0	437				AKR7L_ENST00000429712.1_RNA					aldo-keto reductase family 7-like											breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						CTTCCCAGGCGGCATAGTTGG	0.622													3	74					0.00116845	0.0013554	0.217242	1	0	T	19597014	G	T	19597014	1	4	189	0	1	0	0	0	0	0	0	0	474	1103	39	4		4	AKR7L	1	19597014	RNA	SNP	G	TCGA-HC-7820-01A-11D-2114-08	3221369	19597014	229653607	2	8754			1	21		2	2	27	N	G_C	3.947365e-05
AKR7L	246181	broad.mit.edu	37	chr1	19597040	19597040	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggagaggccaagctccaCgaacttgccctgctcgggtg	7	8	14	12	2	0	1	0	0	0	1	2	3	1	1	3	3	4	3	3	3	2	2	rs114623957	by1000genomes	TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr1:19597040C>T	ENST00000420396.2	-	0	411				AKR7L_ENST00000429712.1_RNA					aldo-keto reductase family 7-like											breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						CCAAGCTCCACGAACTTGCCC	0.617													4	56					0	0	0.184627	0	0	T	19597040	C	T	19597040	1	4	189	0	1	0	0	0	0	0	0	0	474	536	19	1		1	AKR7L	1	19597040	RNA	SNP	C	TCGA-HC-7820-01A-11D-2114-08	26	19597040	229653581	3	8755			1	21		2	2	27	N	G_C	3.947365e-05
MACF1	23499	broad.mit.edu	37	chr1	39888543	39888543	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccatctgctgagtataaaGtggtgaaagcacagatccaa	14	9	9	9	0	1	3	0	2	1	1	3	3	3	3	2	1	2	3	2	1	5	2			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr1:39888543G>C	ENST00000564288.1	+	60	16897	c.16120G>C	c.(16120-16122)Gtg>Ctg	p.V5374L	MACF1_ENST00000539005.1_Missense_Mutation_p.V3291L|MACF1_ENST00000567887.1_Missense_Mutation_p.V5411L|MACF1_ENST00000289893.4_Missense_Mutation_p.V3814L|MACF1_ENST00000372915.3_Missense_Mutation_p.V5379L|MACF1_ENST00000317713.7_Missense_Mutation_p.V3312L|MACF1_ENST00000545844.1_Missense_Mutation_p.V3312L|MACF1_ENST00000361689.2_Missense_Mutation_p.V3312L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5379					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGAGTATAAAGTGGTGAAAGC	0.458													4	29					0	0	0.184627	0	0	C	39888543	G	C	39888543	3	2	189	1	0	0	0	0	1	0	0	0	9190	1029	36	4	16303	4	MACF1	1	39888543	Missense_Mutation	SNP	G	TCGA-HC-7820-01A-11D-2114-08	20291503	39888543	209362078	4	8756											
SYCP1	6847	broad.mit.edu	37	chr1	115489915	115489915	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacttttgtctgttaagaagCaacttgaaatagaaagagaa	18	11	8	4	0	1	4	0	1	1	3	1	5	1	4	0	0	3	2	0	0	8	5			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr1:115489915C>A	ENST00000369522.3	+	27	2536	c.2296C>A	c.(2296-2298)Caa>Aaa	p.Q766K	SYCP1_ENST00000369518.1_Missense_Mutation_p.Q766K	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	766					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGTTAAGAAGCAACTTGAAAT	0.318													12	58					1.05317e-09	1.32791e-09	0.457914	1	0	A	115489915	C	A	115489915	3	1	189	1	0	0	0	0	1	0	0	0	15488	711	25	4	2398	4	SYCP1	1	115489915	Missense_Mutation	SNP	C	TCGA-HC-7820-01A-11D-2114-08	75601372	115489915	133760706	5	8757											
OBSCN	84033	broad.mit.edu	37	chr1	228487672	228487672	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aatgtaagctgagaaaggcgGcccccgtggagtggagaaag	13	5	16	7	2	0	2	0	1	0	2	0	5	0	3	2	4	1	2	2	4	4	1	rs55939441		TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr1:228487672G>A	ENST00000570156.2	+	51	13638	c.13564G>A	c.(13564-13566)Gcc>Acc	p.A4522T	OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000602685.1_3'UTR|OBSCN_ENST00000366707.4_Missense_Mutation_p.A1212T|RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000359599.6_3'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3565					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GAGAAAGGCGGCCCCCGTGGA	0.557													3	67					0	0	0.115264	0	0	A	228487672	G	A	228487672	3	1	189	1	0	0	0	0	1	0	0	0	10860	1218	42	2		2	OBSCN	1	228487672	Missense_Mutation	SNP	G	TCGA-HC-7820-01A-11D-2114-08	112997757	228487672	20762949	6	8758											
RYR2	6262	broad.mit.edu	37	chr1	237753955	237753955	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctaggtgaccagaatagacGgcaccatagacagttcccca	13	6	10	12	1	0	4	0	1	0	3	1	4	1	4	4	2	0	3	4	2	4	4			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr1:237753955G>A	ENST00000366574.2	+	31	4140	c.3823G>A	c.(3823-3825)Ggc>Agc	p.G1275S	RYR2_ENST00000360064.6_Missense_Mutation_p.G1273S|RYR2_ENST00000542537.1_Missense_Mutation_p.G1259S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1275	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.G1273R(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAGAATAGACGGCACCATAGA	0.423													19	105					0	0	0.592651	0	0	A	237753955	G	A	237753955	3	1	189	1	0	0	0	0	1	0	0	0	13821	1116	39	1	3945	1	RYR2	1	237753955	Missense_Mutation	SNP	G	TCGA-HC-7820-01A-11D-2114-08	9266283	237753955	11496666	7	8759											
LRRTM1	347730	broad.mit.edu	37	chr2	80529936	80529936	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcgcactgcaagttgccatCgtagcgcccctggaagttgt	7	9	13	12	3	0	0	0	0	0	0	1	1	0	1	3	2	3	5	3	2	3	3			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr2:80529936C>T	ENST00000295057.3	-	2	1665	c.1009G>A	c.(1009-1011)Gat>Aat	p.D337N	CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000540488.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.D337N	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	337	LRRCT.					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						AAGTTGCCATCGTAGCGCCCC	0.657										HNSCC(69;0.2)			4	22					0	0	0.184627	0	0	T	80529936	C	T	80529936	3	4	189	1	0	0	0	0	1	0	0	0	9084	884	31	1	563	1	LRRTM1	2	80529936	Missense_Mutation	SNP	C	TCGA-HC-7820-01A-11D-2114-08		80529936	162669437	8	8760											
EIF2AK3	9451	broad.mit.edu	37	chr2	88874185	88874185	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgctccacaaatacagaccTtgaggtccctgtgcatcagt	11	10	8	12	0	1	2	1	1	0	1	3	2	3	2	3	1	3	2	3	1	2	2			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr2:88874185T>C	ENST00000303236.3	-	13	3117	c.2817_splice	c.e13+1	p.K939_splice	EIF2AK3_ENST00000470706.1_5'UTR|EIF2AK3_ENST00000419748.1_Splice_Site_p.K788_splice|AC104134.2_ENST00000413234.1_RNA	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	939	Protein kinase.				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						AATACAGACCTTGAGGTCCCT	0.488													4	17					0	0	0.150653	0	0	C	88874185	T	C	88874185	5	2	189	1	0	0	0	0	0	0	1	0	5024	1623	56	3	554	3	EIF2AK3	2	88874185	Splice_Site	SNP	T	TCGA-HC-7820-01A-11D-2114-08	8344249	88874185	154325188	9	8761											
ALPP	250	broad.mit.edu	37	chr2	233246234	233246234	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgagtatcggcagcagtcagCagtgcccctggacgaagaga	11	5	14	11	3	1	1	1	0	0	1	2	5	1	2	2	2	3	4	2	2	2	1			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr2:233246234C>T	ENST00000392027.2	+	11	1606	c.1337C>T	c.(1336-1338)gCa>gTa	p.A446V	AC068134.8_ENST00000441266.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	446						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		CAGCAGTCAGCAGTGCCCCTG	0.667													10	22					0	0	0.435327	0	0	T	233246234	C	T	233246234	3	4	189	1	0	0	0	0	1	0	0	0	544	710	25	2	1379	2	ALPP	2	233246234	Missense_Mutation	SNP	C	TCGA-HC-7820-01A-11D-2114-08	144372049	233246234	9953139	10	8762											
ARIH2	10425	broad.mit.edu	37	chr3	49004609	49004609	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtgtgtatgcagtttgtgCgaaaggaaaacctactctct	11	12	10	8	1	1	0	0	0	1	0	2	2	1	1	1	1	4	3	1	1	5	3			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr3:49004609C>T	ENST00000356401.4	+	6	778	c.439C>T	c.(439-441)Cga>Tga	p.R147*	ARIH2_ENST00000449376.1_Nonsense_Mutation_p.R147*|ARIH2_ENST00000490095.1_3'UTR	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN	ariadne RBR E3 ubiquitin protein ligase 2	147					developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		GCAGTTTGTGCGAAAGGAAAA	0.572													14	145					0	0	0.500413	0	0	T	49004609	C	T	49004609	4	4	189	1	0	0	0	0	0	1	0	0	921	760	27	1	453	1	ARIH2	3	49004609	Nonsense_Mutation	SNP	C	TCGA-HC-7820-01A-11D-2114-08		49004609	149017821	11	8763											
SIDT1	54847	broad.mit.edu	37	chr3	113325954	113325954	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtgctcaccccttgggcGtcctgaggtaaacccagtcc	6	10	10	15	1	2	1	1	1	1	0	4	1	4	1	5	2	2	2	5	2	2	2	rs146353910		TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr3:113325954G>A	ENST00000264852.4	+	15	2197	c.1471G>A	c.(1471-1473)Gtc>Atc	p.V491I	SIDT1_ENST00000463226.1_Intron|SIDT1_ENST00000393830.3_Missense_Mutation_p.V491I	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	491						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						CCCCTTGGGCGTCCTGAGGTA	0.433													3	58					0	0	0.150653	0	0	A	113325954	G	A	113325954	3	1	189	1	0	0	0	0	1	0	0	0	14357	1145	40	1	1529	1	SIDT1	3	113325954	Missense_Mutation	SNP	G	TCGA-HC-7820-01A-11D-2114-08	64321345	113325954	84696476	12	8764											
ZBBX	79740	broad.mit.edu	37	chr3	167000276	167000276	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctgttgaaggtctctgtgaTttctgacctaaaattaaaag	12	14	9	6	0	2	3	0	3	2	0	3	3	2	3	1	1	0	2	1	1	5	4			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr3:167000276T>C	ENST00000392766.2	-	19	2227	c.1887A>G	c.(1885-1887)aaA>aaG	p.K629K	ZBBX_ENST00000392764.1_Silent_p.K600K|ZBBX_ENST00000307529.5_Silent_p.K668K|ZBBX_ENST00000455345.2_Silent_p.K668K|ZBBX_ENST00000392767.2_Silent_p.K629K	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	629						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						GTCTCTGTGATTTCTGACCTA	0.353													3	70					0	0	0.150653	0	0	C	167000276	T	C	167000276	2	2	189	1	0	0	0	0	0	0	0	1	17576	1490	52	3		3	ZBBX	3	167000276	Silent	SNP	T	TCGA-HC-7820-01A-11D-2114-08	53674322	167000276	31022154	13	8765											
NLGN1	22871	broad.mit.edu	37	chr3	173322456	173322456	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatggcatgcttggtacaccGgggattgggtgccccattga	7	10	15	9	1	0	1	0	1	0	0	0	3	0	2	3	5	3	3	3	5	1	4			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr3:173322456G>A	ENST00000457714.1	+	3	497	c.68G>A	c.(67-69)cGg>cAg	p.R23Q	NLGN1_ENST00000545397.1_Missense_Mutation_p.R23Q|NLGN1_ENST00000401917.3_Missense_Mutation_p.R23Q|NLGN1_ENST00000361589.4_Missense_Mutation_p.R23Q	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	23					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	p.R23L(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TTGGTACACCGGGGATTGGGT	0.507													27	84					0	0	0.693898	0	0	A	173322456	G	A	173322456	3	1	189	1	0	0	0	0	1	0	0	0	10508	1116	39	1	70	1	NLGN1	3	173322456	Missense_Mutation	SNP	G	TCGA-HC-7820-01A-11D-2114-08	6322180	173322456	24699974	14	8766											
OPA1	4976	broad.mit.edu	37	chr3	193361334	193361334	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagactgtgacatcaggcatGgctcctgacacaaaggaaac	15	6	10	10	0	1	3	1	2	0	1	2	4	2	4	1	3	1	2	1	3	3	0			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr3:193361334G>A	ENST00000361510.2	+	15	1629	c.1395G>A	c.(1393-1395)atG>atA	p.M465I	OPA1_ENST00000361150.2_Missense_Mutation_p.M411I|OPA1_ENST00000392438.3_Missense_Mutation_p.M410I|OPA1_ENST00000361715.2_Missense_Mutation_p.M429I|OPA1_ENST00000361828.2_Missense_Mutation_p.M428I|OPA1_ENST00000361908.3_Missense_Mutation_p.M447I	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	410					apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		CATCAGGCATGGCTCCTGACA	0.308													11	46					0	0	0.38729	0	0	A	193361334	G	A	193361334	3	1	189	1	0	0	0	0	1	0	0	0	10919	1348	47	2	1453	2	OPA1	3	193361334	Missense_Mutation	SNP	G	TCGA-HC-7820-01A-11D-2114-08	20038878	193361334	4661096	15	8767											
CD38	952	broad.mit.edu	37	chr4	15835906	15835906	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaccctgtttcagtattctGgaaaacggtttcccgcaggg	9	11	10	11	2	2	0	1	0	1	0	3	1	3	1	2	3	2	4	2	3	4	4			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr4:15835906G>A	ENST00000226279.2	+	4	703	c.566G>A	c.(565-567)tGg>tAg	p.W189*		NM_001775.2	NP_001766.2	P28907	CD38_HUMAN	CD38 molecule	189					B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	binding|NAD+ nucleosidase activity|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						TCAGTATTCTGGAAAACGGTT	0.398													26	54					0	0	0.760397	0	0	A	15835906	G	A	15835906	4	1	189	1	0	0	0	0	0	1	0	0	3031	1357	47	2	580	2	CD38	4	15835906	Nonsense_Mutation	SNP	G	TCGA-HC-7820-01A-11D-2114-08		15835906	175318370	16	8768											
YTHDC1	91746	broad.mit.edu	37	chr4	69198540	69198540	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acagcacgaacggaagatgaTaatttctcatgcttcttttc	12	13	7	9	2	2	2	1	1	2	1	4	4	2	3	0	1	3	2	0	1	3	5			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr4:69198540T>C	ENST00000344157.4	-	6	1334	c.999A>G	c.(997-999)ttA>ttG	p.L333L	YTHDC1_ENST00000355665.3_Intron|YTHDC1_ENST00000579690.1_Silent_p.L333L	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	333										NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						CGGAAGATGATAATTTCTCAT	0.328													4	46					0	0	0.217242	0	0	C	69198540	T	C	69198540	2	2	189	1	0	0	0	0	0	0	0	1	17556	1403	49	3		3	YTHDC1	4	69198540	Silent	SNP	T	TCGA-HC-7820-01A-11D-2114-08	53362634	69198540	121955736	17	8769											
COL25A1	84570	broad.mit.edu	37	chr4	109740459	109740459	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaggctggcctggctccccTttttcccccttaacgccacg	4	10	8	19	2	0	0	0	0	0	0	2	0	2	0	7	3	1	2	7	3	1	3			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr4:109740459T>C	ENST00000399132.1	-	36	2402	c.1872A>G	c.(1870-1872)aaA>aaG	p.K624K		NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	624	Collagen-like 7.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CTGGCTCCCCTTTTTCCCCCT	0.453													3	50					0	0	0.150653	0	0	C	109740459	T	C	109740459	2	2	189	1	0	0	0	0	0	0	0	1	3707	1606	56	3		3	COL25A1	4	109740459	Silent	SNP	T	TCGA-HC-7820-01A-11D-2114-08	40541919	109740459	81413817	18	8770											
C6orf10	10665	broad.mit.edu	37	chr6	32260980	32260982	+	In_Frame_Del	DEL	CTT	CTT	-																															cctttatcctcaaaactctcCttcttttcttgggcttcctg																										TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr6:32260980_32260982delCTT	ENST00000375015.4	-	26	1665_1667	c.1465_1467delAAG	c.(1465-1467)del	p.K489del	C6orf10_ENST00000527965.1_In_Frame_Del_p.K474del|C6orf10_ENST00000375007.4_In_Frame_Del_p.K488del|C6orf10_ENST00000533191.1_In_Frame_Del_p.K488del|C6orf10_ENST00000447241.2_In_Frame_Del_p.K490del|C6orf10_ENST00000442822.2_Intron			Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	490	Lys-rich.					integral to membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						CAAAACTCTCCTTCTTTTCTTGG	0.379													23	100	---	---	---	---						-	32260982	CTT	-	32260980	7	5	189	1	0	1	0	1	0	0	0	0	2331	680	24	0	225	0	C6orf10	6	32260980	In_Frame_Del	DEL	CTT	TCGA-HC-7820-01A-11D-2114-08		32260980	138854087	19	8771											
SMPDL3A	10924	broad.mit.edu	37	chr6	123127403	123127403	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagtaaattctttgtttgtGgctcctgctgttacaccagt	7	16	8	10	0	1	0	0	0	1	0	2	0	2	0	3	1	2	5	3	1	3	5	rs41292582	byFrequency	TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr6:123127403G>A	ENST00000368440.4	+	7	1122	c.945G>A	c.(943-945)gtG>gtA	p.V315V	SMPDL3A_ENST00000539041.1_Silent_p.V184V	NM_006714.3	NP_006705.1	Q92484	ASM3A_HUMAN	sphingomyelin phosphodiesterase, acid-like 3A	315					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|protein binding|sphingomyelin phosphodiesterase activity			breast(1)|cervix(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(226;0.236)		CTTTGTTTGTGGCTCCTGCTG	0.323													7	32					0	0	0.307466	0	0	A	123127403	G	A	123127403	2	1	189	1	0	0	0	0	0	0	0	1	14862	1335	47	2		2	SMPDL3A	6	123127403	Silent	SNP	G	TCGA-HC-7820-01A-11D-2114-08	90866423	123127403	47987664	20	8772											
CPA5	93979	broad.mit.edu	37	chr7	129989880	129989880	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgagagttcctttctctgAactgaaagacatcaaagctt	13	13	7	8	0	2	4	1	3	1	2	4	5	3	4	1	0	2	2	1	0	4	4			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr7:129989880A>G	ENST00000485477.1	+	4	1392	c.263A>G	c.(262-264)gAa>gGa	p.E88G	CPA5_ENST00000393213.3_Missense_Mutation_p.E88G|CPA5_ENST00000466363.2_Missense_Mutation_p.E88G|CPA5_ENST00000355388.3_Missense_Mutation_p.E88G|CPA5_ENST00000474905.1_Missense_Mutation_p.E88G|CPA5_ENST00000461828.1_Missense_Mutation_p.E88G|CPA5_ENST00000431780.2_Missense_Mutation_p.E88G			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	88					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					CCTTTCTCTGAACTGAAAGAC	0.527													11	101					0	0	0.38729	0	0	G	129989880	A	G	129989880	3	3	189	1	0	0	0	0	1	0	0	0	3816	246	9	3	273	3	CPA5	7	129989880	Missense_Mutation	SNP	A	TCGA-HC-7820-01A-11D-2114-08		129989880	29148783	21	8773											
PRKDC	5591	broad.mit.edu	37	chr8	48739269	48739269	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggaggcgggccttcccacGgactcgcttggcaggcagct	6	6	16	13	3	0	0	0	0	0	0	2	2	1	2	2	6	1	4	2	6	0	2			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr8:48739269G>T	ENST00000314191.2	-	64	8784	c.8728C>A	c.(8728-8730)Cgt>Agt	p.R2910S	PRKDC_ENST00000338368.3_Missense_Mutation_p.R2910S|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2911	FAT.|KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GCCTTCCCACGGACTCGCTTG	0.627								Non-homologous end-joining					6	26					0.0381472	0.0433831	0.27861	1	0	T	48739269	G	T	48739269	3	4	189	1	0	0	0	0	1	0	0	0	12573	1116	39	4	3751	4	PRKDC	8	48739269	Missense_Mutation	SNP	G	TCGA-HC-7820-01A-11D-2114-08		48739269	97624753	22	8774											
PXDNL	137902	broad.mit.edu	37	chr8	52359596	52359596	+	Frame_Shift_Del	DEL	T	T	-																															cagtcagctgcacagacaccTttttcacccccaacgaactg																										TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr8:52359596delT	ENST00000356297.4	-	12	1593	c.1493delA	c.(1492-1494)agfs	p.K498fs	PXDNL_ENST00000543296.1_Frame_Shift_Del_p.K498fs	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	498	Ig-like C2-type 3.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CACAGACACCTTTTTCACCCC	0.448													8	241	---	---	---	---						-	52359596	T	-	52359596	7	5	189	1	0	1	0	1	0	0	0	0	12900	1609	56	0	2946	0	PXDNL	8	52359596	Frame_Shift_Del	DEL	T	TCGA-HC-7820-01A-11D-2114-08	3620327	52359596	94004426	23	8775											
ZNF33B	7582	broad.mit.edu	37	chr10	43088476	43088476	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagaaagcttttccacacTcattacattcatagggtttc	11	13	7	10	0	2	1	2	0	0	1	4	1	3	1	1	2	2	3	1	2	3	6			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr10:43088476T>A	ENST00000359467.3	-	5	2036	c.1922A>T	c.(1921-1923)gAg>gTg	p.E641V	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	641						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						TTTTCCACACTCATTACATTC	0.388													4	107					0	0	0.217242	0	0	A	43088476	T	A	43088476	3	1	189	1	0	0	0	0	1	0	0	0	17912	1551	54	5	418	5	ZNF33B	10	43088476	Missense_Mutation	SNP	T	TCGA-HC-7820-01A-11D-2114-08		43088476	92446271	24	8776											
NLRP10	338322	broad.mit.edu	37	chr11	7982031	7982031	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtgctgtttctaggtgtCtctaagacaactttgcctct	7	16	8	10	0	4	1	1	0	3	1	5	1	4	1	1	1	3	2	1	1	3	4	rs74451065		TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr11:7982031C>A	ENST00000328600.2	-	2	1289	c.1128G>T	c.(1126-1128)gaG>gaT	p.E376D		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	376	NACHT.						ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TTCTAGGTGTCTCTAAGACAA	0.547													10	26					1.76689e-08	2.18042e-08	0.335167	1	0	A	7982031	C	A	7982031	3	1	189	1	0	0	0	0	1	0	0	0	10519	912	32	4	843	4	NLRP10	11	7982031	Missense_Mutation	SNP	C	TCGA-HC-7820-01A-11D-2114-08		7982031	127024485	25	8777											
RAG1	5896	broad.mit.edu	37	chr11	36596041	36596041	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taataaagggggccggccccGccaacatcttctgtcgctga	9	8	11	13	3	2	1	0	1	2	0	3	1	2	1	4	3	1	1	4	3	4	3	rs104894291		TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr11:36596041G>A	ENST00000299440.5	+	2	1299	c.1187G>A	c.(1186-1188)cGc>cAc	p.R396H		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	396			R -> C (in OS).|R -> H (in OS).|R -> L (in OS).		histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	p.R396H(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GGCCGGCCCCGCCAACATCTT	0.478									Familial Hemophagocytic Lymphohistiocytosis				3	66					0	0	0.115264	0	0	A	36596041	G	A	36596041	3	1	189	1	0	0	0	0	1	0	0	0	13055	1087	38	1	1189	1	RAG1	11	36596041	Missense_Mutation	SNP	G	TCGA-HC-7820-01A-11D-2114-08	28614010	36596041	98410475	26	8778											
SCGB1A1	7356	broad.mit.edu	37	chr11	62189705	62189705	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgcagcttctgcagagaTctgcccgagctttcagcgtg	6	12	12	11	2	3	1	1	0	2	1	3	3	3	1	1	0	6	5	1	0	0	3			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr11:62189705T>C	ENST00000278282.2	+	2	129	c.68T>C	c.(67-69)aTc>aCc	p.I23T	SCGB1A1_ENST00000534397.1_5'UTR|CTD-2531D15.4_ENST00000528983.1_RNA	NM_003357.4	NP_003348.1	P11684	UTER_HUMAN	secretoglobin, family 1A, member 1 (uteroglobin)	23					embryo implantation|signal transduction	extracellular region	binding|phospholipase A2 inhibitor activity			lung(1)	1						TCTGCAGAGATCTGCCCGAGC	0.557													3	65					0	0	0.217242	0	0	C	62189705	T	C	62189705	3	2	189	1	0	0	0	0	1	0	0	0	13947	1435	50	3	74	3	SCGB1A1	11	62189705	Missense_Mutation	SNP	T	TCGA-HC-7820-01A-11D-2114-08	25593664	62189705	72816811	27	8779											
FLI1	2313	broad.mit.edu	37	chr11	128680431	128680431	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acgccagctgtatcacctggGaggggaccaacggggagttc	9	6	15	11	2	1	0	1	0	0	0	2	3	1	3	3	5	2	3	3	5	2	2			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr11:128680431G>A	ENST00000344954.6	+	9	1196	c.808G>A	c.(808-810)Gag>Aag	p.E270K	FLI1_ENST00000534087.1_Missense_Mutation_p.E270K|FLI1_ENST00000281428.8_Missense_Mutation_p.E237K|FLI1_ENST00000429175.2_Missense_Mutation_p.E303K|FLI1_ENST00000525560.1_Missense_Mutation_p.E110K			Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	303					hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		TATCACCTGGGAGGGGACCAA	0.617			T	EWSR1	Ewing sarcoma								3	9					0	0	0.115264	0	0	A	128680431	G	A	128680431	3	1	189	1	0	0	0	0	1	0	0	0	5957	1175	41	2	941	2	FLI1	11	128680431	Missense_Mutation	SNP	G	TCGA-HC-7820-01A-11D-2114-08	66490726	128680431	6326085	28	8780											
PRB3	5544	broad.mit.edu	37	chr12	11420458	11420458	+	RNA	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccttctggctttcctggaCgaggtgggggaccttgaggt	4	12	16	9	1	1	1	0	1	1	0	3	4	3	3	3	6	0	1	3	6	0	3	rs28435564		TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr12:11420458C>G	ENST00000381842.3	-	0	642				PRB3_ENST00000538488.1_RNA|PRB3_ENST00000440870.3_RNA|PRB3_ENST00000279573.6_RNA	NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3							extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			CTTTCCTGGACGAGGTGGGGG	0.612													3	25					0	0	0.115264	0	0	G	11420458	C	G	11420458	1	3	189	0	1	0	0	0	0	0	0	0	12496	550	19	4		4	PRB3	12	11420458	RNA	SNP	C	TCGA-HC-7820-01A-11D-2114-08		11420458	122431437	29	8781											
SCYL2	55681	broad.mit.edu	37	chr12	100706228	100706228	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcctaaatttccttgtaaaGaatgggacccaaatttacct	14	12	6	9	0	0	1	0	0	0	1	1	2	1	2	4	1	2	1	4	1	7	6			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr12:100706228G>C	ENST00000360820.2	+	6	1086	c.649G>C	c.(649-651)Gaa>Caa	p.E217Q		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	217	Protein kinase.				endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						TCCTTGTAAAGAATGGGACCC	0.343													3	41					0	0	0.115264	0	0	C	100706228	G	C	100706228	3	2	189	1	0	0	0	0	1	0	0	0	14002	943	33	4	667	4	SCYL2	12	100706228	Missense_Mutation	SNP	G	TCGA-HC-7820-01A-11D-2114-08	89285770	100706228	33145667	30	8782											
DTX1	1840	broad.mit.edu	37	chr12	113532986	113532986	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagaccatccgcatcgtctAtgacatccccacaggcatcc	10	7	6	18	2	1	2	0	1	1	1	5	2	4	2	6	1	0	2	6	1	1	1			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr12:113532986A>G	ENST00000257600.3	+	7	2029	c.1526A>G	c.(1525-1527)tAt>tGt	p.Y509C	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	509					negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						CGCATCGTCTATGACATCCCC	0.652													21	117					0	0	0.706142	0	0	G	113532986	A	G	113532986	3	3	189	1	0	0	0	0	1	0	0	0	4819	449	16	3	1552	3	DTX1	12	113532986	Missense_Mutation	SNP	A	TCGA-HC-7820-01A-11D-2114-08	12826758	113532986	20318909	31	8783											
CABP1	9478	broad.mit.edu	37	chr12	121094004	121094004	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgatgctggcccagaactgcGcagtcatgcacaacctgctg	9	8	11	13	1	1	2	1	1	0	1	1	2	1	2	2	1	6	4	2	1	2	0			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr12:121094004G>A	ENST00000453000.1	+	1	903	c.391G>A	c.(391-393)Gca>Aca	p.A131T	CABP1_ENST00000351200.2_Intron|CABP1_ENST00000316803.3_Intron|CABP1_ENST00000288616.3_Missense_Mutation_p.A52T			Q9NZU7	CABP1_HUMAN	calcium binding protein 1	0	Pro-rich.					cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCAGAACTGCGCAGTCATGCA	0.647													3	39					0	0	0.115264	0	0	A	121094004	G	A	121094004	3	1	189	1	0	0	0	0	1	0	0	0	2549	1087	38	1	818	1	CABP1	12	121094004	Missense_Mutation	SNP	G	TCGA-HC-7820-01A-11D-2114-08	7561018	121094004	12757891	32	8784											
IPO5	3843	broad.mit.edu	37	chr13	98655152	98655152	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcagaccatggaagaccAaggcaatcaacgtgtgcagg	13	5	13	10	1	1	2	1	0	0	2	1	3	1	3	2	3	3	4	2	3	4	0			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr13:98655152A>G	ENST00000261574.5	+	16	1592	c.1412A>G	c.(1411-1413)cAa>cGa	p.Q471R	IPO5_ENST00000490680.1_Missense_Mutation_p.Q453R|IPO5_ENST00000539640.1_Missense_Mutation_p.Q328R	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN	importin 5	453					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						ATGGAAGACCAAGGCAATCAA	0.453													6	20					0	0	0.217242	0	0	G	98655152	A	G	98655152	3	3	189	1	0	0	0	0	1	0	0	0	7840	130	5	3	1466	3	IPO5	13	98655152	Missense_Mutation	SNP	A	TCGA-HC-7820-01A-11D-2114-08		98655152	16514726	33	8785											
TEP1	7011	broad.mit.edu	37	chr14	20856080	20856080	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgacccttgctgggaaacagGagccaaggggcttggagtgt	9	8	16	8	0	0	1	0	1	0	0	0	4	0	4	2	5	3	2	2	5	2	2			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr14:20856080G>A	ENST00000262715.5	-	18	2708	c.2668C>T	c.(2668-2670)Cct>Tct	p.P890S	TEP1_ENST00000556935.1_Missense_Mutation_p.P782S	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	890					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TGGGAAACAGGAGCCAAGGGG	0.542													17	88					0	0	0.592651	0	0	A	20856080	G	A	20856080	3	1	189	1	0	0	0	0	1	0	0	0	15818	1174	41	2	5367	2	TEP1	14	20856080	Missense_Mutation	SNP	G	TCGA-HC-7820-01A-11D-2114-08		20856080	86493460	34	8786											
FAM174B	400451	broad.mit.edu	37	chr15	93173520	93173520	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggcgccatttccactcgctCtgctggagtggtgatgatat	6	13	12	10	2	1	2	0	2	1	0	3	3	2	3	2	3	1	2	2	3	1	2			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr15:93173520C>G	ENST00000327355.5	-	2	698	c.400G>C	c.(400-402)Gag>Cag	p.E134Q	FAM174B_ENST00000555064.1_5'UTR|FAM174B_ENST00000555748.1_5'UTR|FAM174B_ENST00000555696.1_5'UTR|FAM174B_ENST00000553393.1_5'UTR	NM_207446.2	NP_997329.2	Q3ZCQ3	F174B_HUMAN	family with sequence similarity 174, member B	134						integral to membrane				endometrium(2)|lung(1)	3						TCCACTCGCTCTGCTGGAGTG	0.478													8	26					0	0	0.307466	0	0	G	93173520	C	G	93173520	3	3	189	1	0	0	0	0	1	0	0	0	5526	922	32	4	87	4	FAM174B	15	93173520	Missense_Mutation	SNP	C	TCGA-HC-7820-01A-11D-2114-08		93173520	9357872	35	8787											
SRRM2	23524	broad.mit.edu	37	chr16	2817170	2817170	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtcccaggttccagcccCggtgcctctcatgagtctca	7	10	9	15	1	2	1	2	1	2	0	6	1	4	1	5	2	2	1	5	2	1	1			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr16:2817170C>T	ENST00000301740.8	+	11	7190	c.6641C>T	c.(6640-6642)cCg>cTg	p.P2214L		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2214	Ala-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	p.P2214Q(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GTTCCAGCCCCGGTGCCTCTC	0.612													3	75					0	0	0.115264	0	0	T	2817170	C	T	2817170	3	4	189	1	0	0	0	0	1	0	0	0	15225	652	23	1	6679	1	SRRM2	16	2817170	Missense_Mutation	SNP	C	TCGA-HC-7820-01A-11D-2114-08		2817170	87537583	36	8788											
CDH5	1003	broad.mit.edu	37	chr16	66422312	66422312	+	Frame_Shift_Del	DEL	G	G	-																															gtcatgtaccaaatcctgaaGgggaaagagtattttgccat																										TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	24bd416b-e5e7-4f84-bf13-71ba28824b97	g.chr16:66422312delG	ENST00000341529.3	+	4	733	c.585delG	c.(583-585)aafs	p.K195fs	CDH5_ENST00000563425.2_Frame_Shift_Del_p.K195fs	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	195	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		AAATCCTGAAGGGGAAAGAGT	0.517													26	159	---	---	---	---						-	66422312	G	-	66422312	7	5	189	1	0	1	0	1	0	0	0	0	3135	991	35	0	595	0	CDH5	16	66422312	Frame_Shift_Del	DEL	G	TCGA-HC-7820-01A-11D-2114-08	63605142	66422312	23932441	37	8789	44	2									
CDH5	1003	broad.mit.edu	37	chr16	66422319	66422319	+	Missense_Mutation	SNP	G	G	A																															accaaatcctgaaggggaaaGagtattttgccatcgataat																										TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr16:66422319G>A	ENST00000341529.3	+	4	740	c.592G>A	c.(592-594)Gag>Aag	p.E198K	CDH5_ENST00000563425.2_Missense_Mutation_p.E198K	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	198	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		GAAGGGGAAAGAGTATTTTGC	0.527													23	122					0	0	0.681144	0	0	A	66422319	G	A	66422319	3	1	189	1	0	0	0	0	1	0	0	0	3135	943	33	2	602	2	CDH5	16	66422319	Missense_Mutation	SNP	G	TCGA-HC-7820-01A-11D-2114-08	7	66422319	23932434	38	8790	44	2									
ZFHX3	463	broad.mit.edu	37	chr16	72830348	72830348	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggcactgatggctgggccGgtgcaattgtaggtgaggtg	6	9	19	7	2	0	2	0	2	0	0	0	2	0	2	1	6	1	4	1	6	2	2			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr16:72830348G>A	ENST00000268489.5	-	9	6905	c.6233C>T	c.(6232-6234)cCg>cTg	p.P2078L	ZFHX3_ENST00000397992.5_Missense_Mutation_p.P1164L	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2078					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TGGCTGGGCCGGTGCAATTGT	0.672													3	93					0	0	0.115264	0	0	A	72830348	G	A	72830348	3	1	189	1	0	0	0	0	1	0	0	0	17692	1116	39	1	4886	1	ZFHX3	16	72830348	Missense_Mutation	SNP	G	TCGA-HC-7820-01A-11D-2114-08	6408029	72830348	17524405	39	8791											
ADAD2	161931	broad.mit.edu	37	chr16	84229221	84229221	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggccccccagccagggcccGgacccccattcaccctcaag	7	4	9	21	1	2	0	2	0	0	0	2	1	2	1	8	3	1	0	8	3	1	1			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr16:84229221G>A	ENST00000268624.3	+	7	1309	c.1216G>A	c.(1216-1218)Gga>Aga	p.G406R	RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000569834.1_RNA|RP11-486L19.2_ENST00000536986.1_RNA|ADAD2_ENST00000315906.5_Missense_Mutation_p.G324R	NM_139174.3	NP_631913.3	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	324	A to I editase.				RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						GCCAGGGCCCGGACCCCCATT	0.687													4	29					0	0	0.150653	0	0	A	84229221	G	A	84229221	3	1	189	1	0	0	0	0	1	0	0	0	231	1117	39	1	1242	1	ADAD2	16	84229221	Missense_Mutation	SNP	G	TCGA-HC-7820-01A-11D-2114-08	11398873	84229221	6125532	40	8792											
FOXF1	2294	broad.mit.edu	37	chr16	86544211	86544213	+	In_Frame_Del	DEL	CGG	CGG	-																															gagaagcagcagccaccgcaCggcggcggcggcggcggcgg																										TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr16:86544211_86544213delCGG	ENST00000262426.4	+	1	79_81	c.36_38delCGG	c.(34-39)cac>ca	p.HG12del		NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN	forkhead box F1	12					branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						AGCCACCGCAcggcggcggcggc	0.803													2	4	---	---	---	---						-	86544213	CGG	-	86544211	7	5	189	1	0	1	0	1	0	0	0	0	6039	535	19	0	38	0	FOXF1	16	86544211	In_Frame_Del	DEL	CGG	TCGA-HC-7820-01A-11D-2114-08	2314990	86544211	3810542	41	8793											
MRC2	9902	broad.mit.edu	37	chr17	60741987	60741987	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggcaggtcagagtcacccCggcttgcaataccagcctcc	8	6	11	16	2	2	1	2	0	0	1	3	1	3	1	5	3	3	3	5	3	2	2			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr17:60741987C>T	ENST00000303375.5	+	2	599	c.197C>T	c.(196-198)cCg>cTg	p.P66L		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	66	Ricin B-type lectin.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						AGAGTCACCCCGGCTTGCAAT	0.632													4	70					0	0	0.184627	0	0	T	60741987	C	T	60741987	3	4	189	1	0	0	0	0	1	0	0	0	9807	652	23	1	203	1	MRC2	17	60741987	Missense_Mutation	SNP	C	TCGA-HC-7820-01A-11D-2114-08		60741987	20453223	42	8794											
KCTD1	284252	broad.mit.edu	37	chr18	24128246	24128246	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcctcctcgtcctcctcCagccccccacctccgtcctc	2	10	3	26	2	0	0	0	0	0	0	10	0	8	0	12	0	1	0	12	0	0	0			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr18:24128246C>T	ENST00000417602.1	-	1	254	c.255G>A	c.(253-255)ctG>ctA	p.L85L	KCTD1_ENST00000408011.3_Intron|KCTD1_ENST00000317932.7_Intron|KCTD1_ENST00000579973.1_Intron	NM_001142730.2	NP_001136202.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1	0	BTB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|voltage-gated potassium channel complex	transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			cgtcctcctccagccccccac	0.697													2	2					0	0	0.115264	0	0	T	24128246	C	T	24128246	2	4	189	1	0	0	0	0	0	0	0	1	8140	581	21	2		2	KCTD1	18	24128246	Silent	SNP	C	TCGA-HC-7820-01A-11D-2114-08		24128246	53949002	43	8795											
SIPA1L3	23094	broad.mit.edu	37	chr19	38655514	38655514	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcacccccacgggactggcGgggggcagccgagacccacc	8	1	15	17	3	0	1	0	0	0	1	0	3	0	2	5	5	2	2	5	5	0	0			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr19:38655514G>A	ENST00000222345.6	+	15	4685	c.4176G>A	c.(4174-4176)gcG>gcA	p.A1392A		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1392					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CGGGACTGGCGGGGGGCAGCC	0.657													10	26					0	0	0.411799	0	0	A	38655514	G	A	38655514	2	1	189	1	0	0	0	0	0	0	0	1	14386	1103	39	1		1	SIPA1L3	19	38655514	Silent	SNP	G	TCGA-HC-7820-01A-11D-2114-08		38655514	20473469	44	8796											
C19orf33	64073	broad.mit.edu	37	chr19	38795581	38795583	+	In_Frame_Del	DEL	AAG	AAG	-																															agggcaagaaggagaagggcAagaagaaggaggctccccac																										TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr19:38795581_38795583delAAG	ENST00000301246.5	+	4	399_401	c.298_300delAAG	c.(298-300)del	p.K102del	C19orf33_ENST00000588605.1_3'UTR	NM_033520.1	NP_277055.1	Q9GZP8	IMUP_HUMAN	chromosome 19 open reading frame 33	102						nucleus						all_cancers(60;1.07e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			ggagaagggcaagaagaaggagG	0.596													9	5	---	---	---	---						-	38795583	AAG	-	38795581	7	5	189	1	0	1	0	1	0	0	0	0	1931	131	5	0	312	0	C19orf33	19	38795581	In_Frame_Del	DEL	AAG	TCGA-HC-7820-01A-11D-2114-08	140067	38795581	20333402	45	8797											
CYP2S1	29785	broad.mit.edu	37	chr19	41704492	41704492	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgtggtccgggcagctggtGgtaccctgctgggagtcagc	4	8	17	12	2	1	0	1	0	0	0	2	1	2	1	3	5	4	4	3	5	1	1			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr19:41704492G>C	ENST00000310054.4	+	4	835	c.619G>C	c.(619-621)Ggt>Cgt	p.G207R	CYP2S1_ENST00000542619.1_Intron	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	207					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						GGCAGCTGGTGGTACCCTGCT	0.627													8	114					0	0	0.335167	0	0	C	41704492	G	C	41704492	3	2	189	1	0	0	0	0	1	0	0	0	4197	1348	47	4	633	4	CYP2S1	19	41704492	Missense_Mutation	SNP	G	TCGA-HC-7820-01A-11D-2114-08	2908911	41704492	17424491	46	8798											
PLEKHA4	0	broad.mit.edu	37	chr19	49364696	49364696	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcggggggctcccggccCatctggtctaatattgtagc	5	10	12	14	2	2	0	0	0	2	0	4	0	3	0	3	5	1	2	3	5	3	4			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr19:49364696C>A	ENST00000263265.6	-	5	883	c.328G>T	c.(328-330)Ggg>Tgg	p.G110W	PLEKHA4_ENST00000355496.5_Missense_Mutation_p.G110W	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	110	PH.					cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		GCTCCCGGCCCATCTGGTCTA	0.612													7	78					0.0477658	0.0532772	0.307466	1	0	A	49364696	C	A	49364696	3	1	189	1	0	0	0	0	1	0	0	0	12106	594	21	4	2075	4	PLEKHA4	19	49364696	Missense_Mutation	SNP	C	TCGA-HC-7820-01A-11D-2114-08	7660204	49364696	9764287	47	8799											
MYH9	4627	broad.mit.edu	37	chr22	36681972	36681972	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgctcctgctgggcctggcGcttggcacgctccgcggctg	1	8	15	17	5	0	0	0	0	0	0	2	0	2	0	4	4	1	6	4	4	0	1			TCGA-HC-7820-01A-11D-2114-08	TCGA-HC-7820-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba24c391-5c1e-47ed-a058-142c8e1feeee	02ca7fd5-cd78-4345-bbbf-2b803c6bdc01	g.chr22:36681972G>A	ENST00000216181.5	-	36	5319	c.5089C>T	c.(5089-5091)Cgc>Tgc	p.R1697C	MYH9_ENST00000475726.1_5'UTR	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1697					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TGGGCCTGGCGCTTGGCACGC	0.652			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated				7	52					0	0	0.307466	0	0	A	36681972	G	A	36681972	3	1	189	1	0	0	0	0	1	0	0	0	10090	1087	38	1	817	1	MYH9	22	36681972	Missense_Mutation	SNP	G	TCGA-HC-7820-01A-11D-2114-08		36681972	14622594	48	8800											
GJB5	2709	broad.mit.edu	37	chr1	35223743	35223743	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccgagaccatgtgaagaaaaCcatcttgtgaggggctgcct	11	8	12	10	1	1	4	0	2	1	2	1	5	1	4	4	2	2	1	4	2	3	1			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr1:35223743C>T	ENST00000338513.1	+	2	985	c.812C>T	c.(811-813)aCc>aTc	p.T271I		NM_005268.3	NP_005259.1	O95377	CXB5_HUMAN	gap junction protein, beta 5, 31.1kDa	271					cell communication|epidermis development	connexon complex|integral to membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10		Myeloproliferative disorder(586;0.0393)				GTGAAGAAAACCATCTTGTGA	0.567													19	21					0	0	1	0	0	T	35223743	C	T	35223743	3	4	190	1	0	0	0	0	1	0	0	0	6453	507	18	2	814	2	GJB5	1	35223743	Missense_Mutation	SNP	C	TCGA-HC-7821-01A-12D-2114-08		35223743	214026878	1	8801											
THRAP3	9967	broad.mit.edu	37	chr1	36769470	36769470	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccgaggagcctttcctcgggGtcggggccggttcatgttcc	3	10	15	13	4	1	0	1	0	0	0	5	2	3	1	5	6	1	2	5	6	0	3			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr1:36769470G>A	ENST00000354618.5	+	12	2944	c.2720G>A	c.(2719-2721)gGt>gAt	p.G907D	THRAP3_ENST00000469141.2_Missense_Mutation_p.G907D	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	907					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TTTCCTCGGGGTCGGGGCCGG	0.597			T	USP6	aneurysmal bone cysts								12	74					0	0	1	0	0	A	36769470	G	A	36769470	3	1	190	1	0	0	0	0	1	0	0	0	15934	1261	44	2	2758	2	THRAP3	1	36769470	Missense_Mutation	SNP	G	TCGA-HC-7821-01A-12D-2114-08	1545727	36769470	212481151	2	8802											
BCL9	607	broad.mit.edu	37	chr1	147084929	147084929	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggcaaggggaaaagggagCgaagtatttccgccgactcc	12	5	15	9	3	0	0	0	0	0	0	2	4	2	2	3	4	1	2	3	4	5	2			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr1:147084929C>T	ENST00000234739.3	+	5	1041	c.301C>T	c.(301-303)Cga>Tga	p.R101*	BCL9_ENST00000473292.1_Intron	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	101					Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GAAAAGGGAGCGAAGTATTTC	0.532			T	"IGH@, IGL@"	B-ALL								4	77					0	0	1	0	0	T	147084929	C	T	147084929	4	4	190	1	0	0	0	0	0	1	0	0	1379	760	27	1	307	1	BCL9	1	147084929	Nonsense_Mutation	SNP	C	TCGA-HC-7821-01A-12D-2114-08	110315459	147084929	102165692	3	8803											
TARS2	80222	broad.mit.edu	37	chr1	150471026	150471026	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcgggaactgcccctgcgActagctgactttggggctct	5	10	14	12	2	1	1	0	1	1	0	1	3	1	2	2	4	4	2	2	4	2	2			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr1:150471026A>G	ENST00000369064.3	+	11	1321	c.1287A>G	c.(1285-1287)cgA>cgG	p.R429R	TARS2_ENST00000606933.1_Silent_p.R347R|TARS2_ENST00000463555.1_3'UTR|TARS2_ENST00000438568.2_3'UTR|TARS2_ENST00000369054.2_Silent_p.R299R	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	429					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	TGCCCCTGCGACTAGCTGACT	0.647													5	84					0	0	1	0	0	G	150471026	A	G	150471026	2	3	190	1	0	0	0	0	0	0	0	1	15617	262	10	3		3	TARS2	1	150471026	Silent	SNP	A	TCGA-HC-7821-01A-12D-2114-08	3386097	150471026	98779595	4	8804											
PLEKHA6	22874	broad.mit.edu	37	chr1	204228776	204228776	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catcaccctcccctcgagtcTtggcctctggctcaggctta	5	11	8	17	1	4	0	2	0	2	0	6	1	5	0	4	3	0	2	4	3	1	2			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr1:204228776T>C	ENST00000272203.3	-	8	933	c.617A>G	c.(616-618)aAg>aGg	p.K206R	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.K226R	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	206	Pro-rich.									breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			CCCTCGAGTCTTGGCCTCTGG	0.612													42	43					0	0	1	0	0	C	204228776	T	C	204228776	3	2	190	1	0	0	0	0	1	0	0	0	12108	1609	56	3	2589	3	PLEKHA6	1	204228776	Missense_Mutation	SNP	T	TCGA-HC-7821-01A-12D-2114-08	53757750	204228776	45021845	5	8805											
CD46	4179	broad.mit.edu	37	chr1	207930436	207930436	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctactatgagattggtgaaCgagtagattataagtgtaaa	15	12	10	4	1	0	3	0	2	0	2	0	5	0	3	1	1	2	2	1	1	8	7	rs121909590		TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr1:207930436C>A	ENST00000358170.2	+	2	331	c.175C>A	c.(175-177)Cga>Aga	p.R59R	CD46_ENST00000469535.1_3'UTR|CD46_ENST00000322918.5_Silent_p.R59R|CD46_ENST00000357714.1_Silent_p.R59R|CD46_ENST00000360212.2_Silent_p.R59R|CD46_ENST00000322875.4_Silent_p.R59R|CD46_ENST00000367047.1_Intron|CD46_ENST00000361067.1_Silent_p.R59R|CD46_ENST00000354848.1_Silent_p.R59R|CD46_ENST00000367042.1_Silent_p.R59R|CD46_ENST00000480003.1_Silent_p.R59R|CD46_ENST00000441839.2_Silent_p.R59R|CD46_ENST00000367041.1_Silent_p.R59R	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	59	Sushi 1.		R -> Q.		complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						GATTGGTGAACGAGTAGATTA	0.408													24	79					5.35047e-06	5.94497e-06	1	1	0	A	207930436	C	A	207930436	2	1	190	1	0	0	0	0	0	0	0	1	3040	528	19	4		4	CD46	1	207930436	Silent	SNP	C	TCGA-HC-7821-01A-12D-2114-08	3701660	207930436	41320185	6	8806											
WDR26	80232	broad.mit.edu	37	chr1	224621758	224621760	+	In_Frame_Del	DEL	CCG	CCG	-																															cgccgccccctcctcctccaCcgccgccgccgccacctcct																										TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr1:224621758_224621760delCCG	ENST00000414423.2	-	1	241_243	c.48_50delCGG	c.(46-51)ggt>gg	p.GG24del	WDR26_ENST00000366852.2_In_Frame_Del_p.GG24del|WDR26_ENST00000295024.6_5'UTR	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	24						cytoplasm|nucleus				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		tcctcctccaccgccgccgccgc	0.729													2	4	---	---	---	---						-	224621760	CCG	-	224621758	7	5	190	1	0	1	0	1	0	0	0	0	17343	507	18	0	1991	0	WDR26	1	224621758	In_Frame_Del	DEL	CCG	TCGA-HC-7821-01A-12D-2114-08	16691322	224621758	24628863	7	8807											
RYR2	6262	broad.mit.edu	37	chr1	237947227	237947227	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttttgtcttgtgcggagaCggatgagaatgaaaccctcg	9	12	12	8	3	2	3	0	2	2	2	3	6	2	4	1	2	2	0	1	2	2	3			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr1:237947227C>A	ENST00000366574.2	+	90	12532	c.12215C>A	c.(12214-12216)aCg>aAg	p.T4072K	RYR2_ENST00000360064.6_Missense_Mutation_p.T4078K|RYR2_ENST00000542537.1_Missense_Mutation_p.T4056K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4072					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGTGCGGAGACGGATGAGAAT	0.512													5	12					0.000602214	0.00063391	1	1	0	A	237947227	C	A	237947227	3	1	190	1	0	0	0	0	1	0	0	0	13821	536	19	4	12573	4	RYR2	1	237947227	Missense_Mutation	SNP	C	TCGA-HC-7821-01A-12D-2114-08	13325469	237947227	11303394	8	8808											
ASAP2	8853	broad.mit.edu	37	chr2	9484733	9484733	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaaggaacatgggaccgagCggaacggcagcctctacaag	14	3	13	11	3	1	0	0	0	1	0	1	4	1	3	2	4	5	1	2	4	5	1			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr2:9484733C>T	ENST00000281419.3	+	10	1262	c.922C>T	c.(922-924)Cgg>Tgg	p.R308W	ASAP2_ENST00000315273.4_Missense_Mutation_p.R308W	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	308	PH.				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding	p.R308W(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						TGGGACCGAGCGGAACGGCAG	0.458													4	79					0	0	1	0	0	T	9484733	C	T	9484733	3	4	190	1	0	0	0	0	1	0	0	0	1010	759	27	1	960	1	ASAP2	2	9484733	Missense_Mutation	SNP	C	TCGA-HC-7821-01A-12D-2114-08		9484733	233714640	9	8809											
LRP2	4036	broad.mit.edu	37	chr2	170062576	170062576	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctcttggttttggaacgcGggctatcacagtgcggttag	6	13	14	8	3	2	0	1	0	1	0	2	1	2	1	0	4	3	4	0	4	3	5			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr2:170062576G>A	ENST00000263816.3	-	40	7798	c.7513C>T	c.(7513-7515)Cgc>Tgc	p.R2505C		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2505					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.R2505S(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TTTGGAACGCGGGCTATCACA	0.423													64	107					0	0	1	0	0	A	170062576	G	A	170062576	3	1	190	1	0	0	0	0	1	0	0	0	9001	1116	39	1	6614	1	LRP2	2	170062576	Missense_Mutation	SNP	G	TCGA-HC-7821-01A-12D-2114-08	160577843	170062576	73136797	10	8810											
TTN	7273	broad.mit.edu	37	chr2	179438180	179438180	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttgtcacttcagggttttTgggcggatcagggggtccat	6	13	15	7	1	3	0	3	0	0	0	4	1	4	1	1	5	0	2	1	5	0	4			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr2:179438180T>G	ENST00000589042.1	-	326	72903	c.72679A>C	c.(72679-72681)Aaa>Caa	p.K24227Q	TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K15354Q|TTN_ENST00000359218.5_Missense_Mutation_p.K15287Q|TTN_ENST00000342992.6_Missense_Mutation_p.K21659Q|TTN_ENST00000460472.2_Missense_Mutation_p.K15162Q|TTN_ENST00000591111.1_Missense_Mutation_p.K22586Q|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22586	Ig-like 121.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAGGGTTTTTGGGCGGATCA	0.448													3	114					0	0	1	0	0	G	179438180	T	G	179438180	3	3	190	1	0	0	0	0	1	0	0	0	16797	1821	63	5	35448	5	TTN	2	179438180	Missense_Mutation	SNP	T	TCGA-HC-7821-01A-12D-2114-08	9375604	179438180	63761193	11	8811											
ACPL2	92370	broad.mit.edu	37	chr3	141011230	141011230	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagaccactgggaaaagccGgaccctacaaagtgggctgg	13	4	14	10	1	0	1	0	0	0	1	0	4	0	3	3	4	2	1	3	4	4	1			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr3:141011230G>A	ENST00000508812.1	+	5	2506	c.599G>A	c.(598-600)cGg>cAg	p.R200Q	ACPL2_ENST00000286353.4_Missense_Mutation_p.R209Q|ACPL2_ENST00000393007.1_Missense_Mutation_p.R193Q|RP11-438D8.2_ENST00000507698.1_RNA|ACPL2_ENST00000393010.2_Missense_Mutation_p.R209Q|ACPL2_ENST00000502783.1_Missense_Mutation_p.R171Q|ACPL2_ENST00000504264.1_Missense_Mutation_p.R192Q			Q8TE99	ACPL2_HUMAN	acid phosphatase-like 2	209						extracellular region	acid phosphatase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						GGGAAAAGCCGGACCCTACAA	0.483													3	65					0	0	1	0	0	A	141011230	G	A	141011230	3	1	190	1	0	0	0	0	1	0	0	0	166	1116	39	1	644	1	ACPL2	3	141011230	Missense_Mutation	SNP	G	TCGA-HC-7821-01A-12D-2114-08		141011230	57011200	12	8812											
AFF1	4299	broad.mit.edu	37	chr4	88029355	88029355	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtggcatcagcacattccaGcagtgcagagtcagaaagca	14	6	11	10	0	2	2	2	0	0	2	3	2	3	2	1	1	4	5	1	1	1	1			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr4:88029355G>A	ENST00000307808.6	+	10	1820	c.1400G>A	c.(1399-1401)aGc>aAc	p.S467N	AFF1_ENST00000544085.1_Missense_Mutation_p.S105N|AFF1_ENST00000395146.4_Missense_Mutation_p.S474N	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	467						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		GCACATTCCAGCAGTGCAGAG	0.483													3	81					0	0	1	0	0	A	88029355	G	A	88029355	3	1	190	1	0	0	0	0	1	0	0	0	355	971	34	2	1480	2	AFF1	4	88029355	Missense_Mutation	SNP	G	TCGA-HC-7821-01A-12D-2114-08		88029355	103124921	13	8813											
HHIP	64399	broad.mit.edu	37	chr4	145567943	145567943	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggagcaaggaggagaaggtGcctgaatgggaaccccccga	12	3	16	10	2	0	2	0	1	0	1	0	7	0	5	4	5	3	1	4	5	4	0			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr4:145567943G>A	ENST00000296575.3	+	1	771	c.116G>A	c.(115-117)tGc>tAc	p.C39Y	HHIP_ENST00000434550.2_Missense_Mutation_p.C39Y|HHIP-AS1_ENST00000512359.1_RNA	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	39	Arg-rich.					cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding	p.C39Y(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		AGGAGAAGGTGCCTGAATGGG	0.577													4	59					0	0	1	0	0	A	145567943	G	A	145567943	3	1	190	1	0	0	0	0	1	0	0	0	7133	1319	46	2	118	2	HHIP	4	145567943	Missense_Mutation	SNP	G	TCGA-HC-7821-01A-12D-2114-08	57538588	145567943	45586333	14	8814											
PRDM9	56979	broad.mit.edu	37	chr5	23527460	23527460	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtctgcagggagtgtgggCggggctttcgcgataagtca	7	10	17	7	3	2	0	1	0	1	0	3	2	2	1	0	4	1	2	0	4	1	2			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr5:23527460C>T	ENST00000296682.3	+	11	2445	c.2263C>T	c.(2263-2265)Cgg>Tgg	p.R755W		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	755					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGAGTGTGGGCGGGGCTTTCG	0.582										HNSCC(3;0.000094)			10	154					0	0	1	0	0	T	23527460	C	T	23527460	3	4	190	1	0	0	0	0	1	0	0	0	12515	759	27	1	2301	1	PRDM9	5	23527460	Missense_Mutation	SNP	C	TCGA-HC-7821-01A-12D-2114-08		23527460	157387800	15	8815											
C7	730	broad.mit.edu	37	chr5	40958242	40958242	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatgaatttgacccctgtcaTtgccggccttgtcaaaatgg	9	12	10	10	1	2	2	2	2	0	0	2	3	2	2	4	2	1	0	4	2	3	3			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr5:40958242T>C	ENST00000313164.9	+	11	1727	c.1368T>C	c.(1366-1368)caT>caC	p.H456H		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	456	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				ACCCCTGTCATTGCCGGCCTT	0.473													4	76					0	0	1	0	0	C	40958242	T	C	40958242	2	2	190	1	0	0	0	0	0	0	0	1	2391	1490	52	3		3	C7	5	40958242	Silent	SNP	T	TCGA-HC-7821-01A-12D-2114-08	17430782	40958242	139957018	16	8816											
PCDHGA1	0	broad.mit.edu	37	chr5	140711225	140711225	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttcaagcccaggatggtgCggggctcatggctaaagtta	10	9	14	8	1	2	0	2	0	0	0	2	1	2	1	1	5	2	4	1	5	4	3			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr5:140711225C>T	ENST00000517417.1	+	1	974	c.974C>T	c.(973-975)gCg>gTg	p.A325V	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.A325V	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGATGGTGCGGGGCTCATG	0.398													20	44					0	0	1	0	0	T	140711225	C	T	140711225	3	4	190	1	0	0	0	0	1	0	0	0	11597	768	27	1	976	1	PCDHGA1	5	140711225	Missense_Mutation	SNP	C	TCGA-HC-7821-01A-12D-2114-08	99752983	140711225	40204035	17	8817											
PCDHGC3	0	broad.mit.edu	37	chr5	140856728	140856728	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtggatgtgaatgacaacGccccggagatcacagtcacc	11	8	11	11	2	2	3	2	2	0	1	2	5	2	4	3	2	1	0	3	2	2	1			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr5:140856728G>A	ENST00000308177.3	+	1	1149	c.1045G>A	c.(1045-1047)Gcc>Acc	p.A349T	PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAATGACAACGCCCCGGAGAT	0.552													28	32					0	0	1	0	0	A	140856728	G	A	140856728	3	1	190	1	0	0	0	0	1	0	0	0	11616	1087	38	1	1047	1	PCDHGC3	5	140856728	Missense_Mutation	SNP	G	TCGA-HC-7821-01A-12D-2114-08	145503	140856728	40058532	18	8818											
DLX6	1750	broad.mit.edu	37	chr7	96635545	96635547	+	In_Frame_Del	DEL	CAC	CAC	-																															cggcggcagcggccggctcgCaccaccaccaccaccaccag																										TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr7:96635545_96635547delCAC	ENST00000518156.2	+	1	686_688	c.256_258delCAC	c.(256-258)del	p.H91del	DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000430027.2_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6_ENST00000007660.5_In_Frame_Del_p.H63del			P56179	DLX6_HUMAN	distal-less homeobox 6	0					nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					GGCCGGCTCGcaccaccaccacc	0.729													3	6	---	---	---	---						-	96635547	CAC	-	96635545	7	5	190	1	0	1	0	1	0	0	0	0	4603	710	25	0	258	0	DLX6	7	96635545	In_Frame_Del	DEL	CAC	TCGA-HC-7821-01A-12D-2114-08		96635545	62503118	19	8819											
NPTX2	4885	broad.mit.edu	37	chr7	98254301	98254301	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccgcacaaactacctataCggcaagatcaagaagacgct	15	6	7	13	3	1	3	1	0	0	3	2	3	2	3	2	1	3	3	2	1	7	3			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr7:98254301C>T	ENST00000265634.3	+	3	876	c.711C>T	c.(709-711)taC>taT	p.Y237Y		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	237	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			ACTACCTATACGGCAAGATCA	0.587													78	104					0	0	1	0	0	T	98254301	C	T	98254301	2	4	190	1	0	0	0	0	0	0	0	1	10651	547	19	1		1	NPTX2	7	98254301	Silent	SNP	C	TCGA-HC-7821-01A-12D-2114-08	1618756	98254301	60884362	20	8820											
PRKDC	5591	broad.mit.edu	37	chr8	48801155	48801155	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acacaacagcagccagcctgCtcctgtccacttgcgcgtca	9	7	8	17	2	1	0	1	0	0	0	3	0	3	0	4	0	6	2	4	0	1	1			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr8:48801155C>T	ENST00000314191.2	-	35	4390	c.4334G>A	c.(4333-4335)aGc>aAc	p.S1445N	PRKDC_ENST00000338368.3_Missense_Mutation_p.S1445N|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1446					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AGCCAGCCTGCTCCTGTCCAC	0.473								Non-homologous end-joining					5	5					0	0	1	0	0	T	48801155	C	T	48801155	3	4	190	1	0	0	0	0	1	0	0	0	12573	797	28	2	8261	2	PRKDC	8	48801155	Missense_Mutation	SNP	C	TCGA-HC-7821-01A-12D-2114-08		48801155	97562867	21	8821											
CUBN	8029	broad.mit.edu	37	chr10	17142211	17142211	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgtccatggattctaaccGgaaaaaagtgaaagtgatac	15	10	10	6	1	1	2	0	2	1	0	2	4	2	4	2	2	2	1	2	2	6	4			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr10:17142211G>A	ENST00000377833.4	-	14	1623	c.1558C>T	c.(1558-1560)Cgg>Tgg	p.R520W		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	520	CUB 1.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GATTCTAACCGGAAAAAAGTG	0.383													12	35					0	0	1	0	0	A	17142211	G	A	17142211	3	1	190	1	0	0	0	0	1	0	0	0	4074	1115	39	1	9529	1	CUBN	10	17142211	Missense_Mutation	SNP	G	TCGA-HC-7821-01A-12D-2114-08		17142211	118392536	22	8822											
PUS7L	83448	broad.mit.edu	37	chr12	44142400	44142400	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatttccaggttttcctttCgtagggtaaaagctgaaaca	12	13	8	8	1	0	1	0	1	0	0	3	1	2	1	2	2	2	4	2	2	4	6	rs145814117	byFrequency	TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr12:44142400C>A	ENST00000416848.2	-	3	1411	c.923G>T	c.(922-924)cGa>cTa	p.R308L	PUS7L_ENST00000551923.1_Missense_Mutation_p.R308L|PUS7L_ENST00000344862.5_Missense_Mutation_p.R308L|PUS7L_ENST00000431332.3_5'UTR|PUS7L_ENST00000553166.1_Missense_Mutation_p.R308L	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	308					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)		GTTTTCCTTTCGTAGGGTAAA	0.318													3	34					0.00909568	0.00940932	1	1	0	A	44142400	C	A	44142400	3	1	190	1	0	0	0	0	1	0	0	0	12886	884	31	4	1210	4	PUS7L	12	44142400	Missense_Mutation	SNP	C	TCGA-HC-7821-01A-12D-2114-08		44142400	89709495	23	8823											
MLXIP	22877	broad.mit.edu	37	chr12	122613718	122613718	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agggaagtactggaagagccGcatcgagattgtgatccggg	11	7	16	7	3	0	3	0	1	0	2	2	6	1	5	2	3	2	2	2	3	3	2			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr12:122613718G>T	ENST00000319080.6	+	4	773	c.641G>T	c.(640-642)cGc>cTc	p.R214L				Q9HAP2	MLXIP_HUMAN	MLX interacting protein	214	Required for cytoplasmic localization.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		TGGAAGAGCCGCATCGAGATT	0.547													3	21					0.00024832	0.000270895	1	1	0	T	122613718	G	T	122613718	3	4	190	1	0	0	0	0	1	0	0	0	9684	1087	38	4	655	4	MLXIP	12	122613718	Missense_Mutation	SNP	G	TCGA-HC-7821-01A-12D-2114-08	78471318	122613718	11238177	24	8824											
EP400	57634	broad.mit.edu	37	chr12	132547141	132547141	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcaacaGcagcagcagcaacagacgac	16	0	11	14	1	0	1	0	0	0	1	0	2	0	1	0	0	11	9	0	0	2	0			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr12:132547141G>A	ENST00000333577.4	+	48	8446	c.8337G>A	c.(8335-8337)caG>caA	p.Q2779Q	EP400_ENST00000330386.6_Silent_p.Q2662Q|EP400_ENST00000332482.4_Silent_p.Q2706Q|EP400_ENST00000389562.2_Silent_p.Q2742Q|EP400_ENST00000389561.2_Silent_p.Q2743Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2779	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2742Q(2)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacagcagcagcagc	0.597													3	42					0	0	1	0	0	A	132547141	G	A	132547141	2	1	190	1	0	0	0	0	0	0	0	1	5177	962	34	2		2	EP400	12	132547141	Silent	SNP	G	TCGA-HC-7821-01A-12D-2114-08	9933423	132547141	1304754	25	8825											
BRCA2	675	broad.mit.edu	37	chr13	32911291	32911291	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggttttatatggagacacAggtgataaacaagcaaccca	16	9	9	7	0	0	2	0	1	0	1	0	3	0	2	1	3	3	2	1	3	6	4			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr13:32911291A>T	ENST00000544455.1	+	11	3026	c.2799A>T	c.(2797-2799)acA>acT	p.T933T	BRCA2_ENST00000380152.3_Silent_p.T933T	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	933	Interaction with NPM1.				cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		ATGGAGACACAGGTGATAAAC	0.343			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			23	39					0	0	1	0	0	T	32911291	A	T	32911291	2	4	190	1	0	0	0	0	0	0	0	1	1501	175	7	5		5	BRCA2	13	32911291	Silent	SNP	A	TCGA-HC-7821-01A-12D-2114-08		32911291	82258587	26	8826											
OTUD7A	161725	broad.mit.edu	37	chr15	31776773	31776773	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgtcttgtccttctccttgCgctgcttctccttctccttg	0	18	7	16	2	4	0	0	0	4	0	8	0	5	0	4	0	2	2	4	0	0	6			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr15:31776773C>T	ENST00000382902.1	-	11	1618	c.1526G>A	c.(1525-1527)cGc>cAc	p.R509H	OTUD7A_ENST00000307050.4_Missense_Mutation_p.R502H			Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	502						cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		cttctccttgcgctgcttctc	0.587													5	13					0	0	1	0	0	T	31776773	C	T	31776773	3	4	190	1	0	0	0	0	1	0	0	0	11365	768	27	1	1279	1	OTUD7A	15	31776773	Missense_Mutation	SNP	C	TCGA-HC-7821-01A-12D-2114-08		31776773	70754619	27	8827											
EARS2	124454	broad.mit.edu	37	chr16	23555840	23555840	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgaggttcttaccggggCgtctggtggttccgcaaggc	5	10	16	10	3	2	1	0	1	2	0	3	1	3	1	2	6	2	4	2	6	2	3			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr16:23555840C>G	ENST00000449606.1	-	3	511	c.480G>C	c.(478-480)acG>acC	p.T160T	EARS2_ENST00000564987.1_5'UTR|EARS2_ENST00000563232.1_Silent_p.T160T|EARS2_ENST00000564501.1_Silent_p.T160T|EARS2_ENST00000563459.1_Silent_p.T160T	NM_001083614.1	NP_001077083.1	Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2, mitochondrial	160					glutamyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|glutamate-tRNA ligase activity|RNA binding	p.T160T(1)		central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)	L-Glutamic Acid(DB00142)	CTTACCGGGGCGTCTGGTGGT	0.542													5	22					0	0	1	0	0	G	23555840	C	G	23555840	2	3	190	1	0	0	0	0	0	0	0	1	4904	755	27	4		4	EARS2	16	23555840	Silent	SNP	C	TCGA-HC-7821-01A-12D-2114-08		23555840	66798913	28	8828											
CDH8	1006	broad.mit.edu	37	chr16	62055221	62055221	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagactgattcatcggagcCatgtaaatgcaagggggaag	13	8	14	6	1	1	2	1	2	0	1	2	5	1	4	1	3	2	2	1	3	4	2			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr16:62055221C>A	ENST00000577390.1	-	2	1041	c.87G>T	c.(85-87)atG>atT	p.M29I	CDH8_ENST00000577730.1_Missense_Mutation_p.M29I|CDH8_ENST00000299345.6_Missense_Mutation_p.M29I|CDH8_ENST00000584337.1_Missense_Mutation_p.M29I	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	29					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TCATCGGAGCCATGTAAATGC	0.448													7	62					0.000442599	0.000474214	1	1	0	A	62055221	C	A	62055221	3	1	190	1	0	0	0	0	1	0	0	0	3138	594	21	4	2356	4	CDH8	16	62055221	Missense_Mutation	SNP	C	TCGA-HC-7821-01A-12D-2114-08	38499381	62055221	28299532	29	8829											
KRT25	147183	broad.mit.edu	37	chr17	38906790	38906790	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgatctgagcctggatctgCgccagctgcgcacagtagtt	7	9	12	13	3	2	1	0	1	2	0	2	3	2	2	3	1	4	4	3	1	1	2			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr17:38906790C>T	ENST00000312150.4	-	6	1077	c.1017G>A	c.(1015-1017)gcG>gcA	p.A339A		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	339	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity	p.A339A(2)		endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				CCTGGATCTGCGCCAGCTGCG	0.562													10	219					0	0	1	0	0	T	38906790	C	T	38906790	2	4	190	1	0	0	0	0	0	0	0	1	8505	755	27	1		1	KRT25	17	38906790	Silent	SNP	C	TCGA-HC-7821-01A-12D-2114-08		38906790	42288420	30	8830											
KRT33A	3883	broad.mit.edu	37	chr17	39502452	39502452	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggcccagtggacttgtcAcatgcattggttgtggcgca	7	10	14	10	1	1	0	1	0	0	0	1	1	1	1	1	4	1	3	1	4	0	3			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr17:39502452A>G	ENST00000007735.3	-	7	1178	c.1134T>C	c.(1132-1134)tgT>tgC	p.C378C		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	378	Tail.					intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				TGGACTTGTCACATGCATTGG	0.522													31	48					0	0	1	0	0	G	39502452	A	G	39502452	2	3	190	1	0	0	0	0	0	0	0	1	8512	157	6	3		3	KRT33A	17	39502452	Silent	SNP	A	TCGA-HC-7821-01A-12D-2114-08	595662	39502452	41692758	31	8831											
GATA6	2627	broad.mit.edu	37	chr18	19752073	19752075	+	In_Frame_Del	DEL	ACC	ACC	-																															gcggccgctgaacgggacgtAccaccaccaccaccaccacc																										TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr18:19752073_19752075delACC	ENST00000269216.3	+	2	1245_1247	c.968_970delACC	c.(967-972)tac>t	p.YH323del	GATA6_ENST00000581694.1_In_Frame_Del_p.YH323del	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	323					blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			AACGGGACGTaccaccaccacca	0.749													2	4	---	---	---	---						-	19752075	ACC	-	19752073	7	5	190	1	0	1	0	1	0	0	0	0	6298	391	14	0	970	0	GATA6	18	19752073	In_Frame_Del	DEL	ACC	TCGA-HC-7821-01A-12D-2114-08		19752073	58325175	32	8832											
ALPK2	115701	broad.mit.edu	37	chr18	56246187	56246187	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttttgcttcttgctctgcCtgggttgaaatagcacattc	6	17	9	9	0	2	1	0	1	2	0	3	1	2	1	1	1	4	5	1	1	2	7			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr18:56246187C>T	ENST00000361673.3	-	4	2034	c.1821G>A	c.(1819-1821)caG>caA	p.Q607Q	ALPK2_ENST00000587399.1_5'UTR	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	607							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CTTGCTCTGCCTGGGTTGAAA	0.458											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	16					0	0	1	0	0	T	56246187	C	T	56246187	2	4	190	1	0	0	0	0	0	0	0	1	541	680	24	2		2	ALPK2	18	56246187	Silent	SNP	C	TCGA-HC-7821-01A-12D-2114-08	36494114	56246187	21831061	33	8833											
POLD1	5424	broad.mit.edu	37	chr19	50905313	50905313	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgaacttggccatcagccGggacagtcgcggggggaggg	7	5	19	10	3	1	1	1	1	0	0	2	3	1	3	2	6	2	1	2	6	1	1	rs141976385		TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr19:50905313G>A	ENST00000440232.2	+	5	574	c.521G>A	c.(520-522)cGg>cAg	p.R174Q	POLD1_ENST00000599857.1_Missense_Mutation_p.R174Q|POLD1_ENST00000595904.1_Missense_Mutation_p.R174Q	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	174					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GCCATCAGCCGGGACAGTCGC	0.667								DNA polymerases (catalytic subunits)					3	99					0	0	1	0	0	A	50905313	G	A	50905313	3	1	190	1	0	0	0	0	1	0	0	0	12238	1116	39	1	535	1	POLD1	19	50905313	Missense_Mutation	SNP	G	TCGA-HC-7821-01A-12D-2114-08		50905313	8223670	34	8834											
NLRP12	91662	broad.mit.edu	37	chr19	54308673	54308673	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgcagagaggtcctcgcAggctgagctggagatgcggc	8	6	17	10	2	0	3	0	1	0	2	2	5	1	3	1	4	4	5	1	4	0	0			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr19:54308673A>G	ENST00000324134.6	-	5	2443	c.2275T>C	c.(2275-2277)Tgc>Cgc	p.C759R	NLRP12_ENST00000535162.1_Missense_Mutation_p.C759R|NLRP12_ENST00000354278.3_Missense_Mutation_p.C759R|NLRP12_ENST00000391775.3_Missense_Mutation_p.C759R|NLRP12_ENST00000345770.5_Missense_Mutation_p.C760R|NLRP12_ENST00000391772.1_Missense_Mutation_p.C760R|NLRP12_ENST00000391773.1_Missense_Mutation_p.C760R|NLRP12_ENST00000351894.4_Missense_Mutation_p.C759R	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	759					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		AGGTCCTCGCAGGCTGAGCTG	0.498													3	103					0	0	1	0	0	G	54308673	A	G	54308673	3	3	190	1	0	0	0	0	1	0	0	0	10521	188	7	3	934	3	NLRP12	19	54308673	Missense_Mutation	SNP	A	TCGA-HC-7821-01A-12D-2114-08	3403360	54308673	4820310	35	8835											
CNOT3	4849	broad.mit.edu	37	chr19	54652183	54652183	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgtccagcctagcggaggcGgaggcggcggcagcggaggt	6	3	21	11	6	0	0	0	0	0	0	1	3	1	3	2	8	3	1	2	8	1	1			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr19:54652183G>A	ENST00000406403.1	+	10	2798	c.1195G>A	c.(1195-1197)Gga>Aga	p.G399R	CNOT3_ENST00000358389.3_Missense_Mutation_p.G218R|CNOT3_ENST00000221232.5_Missense_Mutation_p.G399R			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	399	Gly/Ser-rich.				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TAgcggaggcggaggcggcgg	0.716													9	14					0	0	1	0	0	A	54652183	G	A	54652183	3	1	190	1	0	0	0	0	1	0	0	0	3643	1117	39	1	1233	1	CNOT3	19	54652183	Missense_Mutation	SNP	G	TCGA-HC-7821-01A-12D-2114-08	343510	54652183	4476800	36	8836											
LILRB5	0	broad.mit.edu	37	chr19	54754732	54754732	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaggctcagttgcctccCgtctgagggtcaagctgtgt	6	10	15	10	1	3	1	2	1	1	0	4	3	4	2	2	3	2	3	2	3	1	1			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr19:54754732C>A	ENST00000316219.5	-	13	1798	c.1691G>T	c.(1690-1692)cGg>cTg	p.R564L	LILRB5_ENST00000345866.6_Missense_Mutation_p.R465L|LILRB5_ENST00000450632.1_3'UTR|LILRB5_ENST00000449561.2_Missense_Mutation_p.R565L	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	564					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AGTTGCCTCCCGTCTGAGGGT	0.627													13	54					9.16793e-09	1.05784e-08	1	1	0	A	54754732	C	A	54754732	3	1	190	1	0	0	0	0	1	0	0	0	8834	652	23	4	85	4	LILRB5	19	54754732	Missense_Mutation	SNP	C	TCGA-HC-7821-01A-12D-2114-08	102549	54754732	4374251	37	8837											
NLRP8	126205	broad.mit.edu	37	chr19	56466879	56466879	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggatcagacgggagtcacCgccttccttggcatgagtat	8	10	12	11	2	2	2	2	1	0	1	3	4	3	4	3	3	0	2	3	3	1	3			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr19:56466879C>T	ENST00000291971.3	+	3	1526	c.1455C>T	c.(1453-1455)acC>acT	p.T485T	NLRP8_ENST00000590542.1_Silent_p.T485T	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	485	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CGGGAGTCACCGCCTTCCTTG	0.488													63	80					0	0	1	0	0	T	56466879	C	T	56466879	2	4	190	1	0	0	0	0	0	0	0	1	10530	639	23	1		1	NLRP8	19	56466879	Silent	SNP	C	TCGA-HC-7821-01A-12D-2114-08	1712147	56466879	2662104	38	8838											
KIF16B	55614	broad.mit.edu	37	chr20	16348168	16348168	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtgggtgttcagaaggaCtagcgactggcactggtcat	10	10	14	7	1	2	1	2	0	0	1	2	3	2	2	0	4	1	2	0	4	3	2			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr20:16348168C>A	ENST00000408042.1	-	23	3959	c.3802G>T	c.(3802-3804)Gtc>Ttc	p.V1268F	KIF16B_ENST00000378003.2_Intron|KIF16B_ENST00000355755.3_Intron|KIF16B_ENST00000354981.2_Intron	NM_001199866.1	NP_001186795.1	Q96L93	KI16B_HUMAN	kinesin family member 16B	0	PX.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TTCAGAAGGACTAGCGACTGG	0.483													22	36					2.89027e-11	3.46832e-11	1	1	0	A	16348168	C	A	16348168	3	1	190	1	0	0	0	0	1	0	0	0	8320	580	20	4		4	KIF16B	20	16348168	Missense_Mutation	SNP	C	TCGA-HC-7821-01A-12D-2114-08		16348168	46677352	39	8839											
C20orf85	128602	broad.mit.edu	37	chr20	56726068	56726068	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggctgaacgcatgaacctTgtgggtcaggatgagatctg	9	9	15	8	2	2	3	1	3	1	1	2	5	2	4	1	3	2	2	1	3	2	1			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr20:56726068T>G	ENST00000371168.3	+	1	109	c.48T>G	c.(46-48)ctT>ctG	p.L16L		NM_178456.2	NP_848551.1	Q9H1P6	CT085_HUMAN	chromosome 20 open reading frame 85	16										kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	13	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)			GCATGAACCTTGTGGGTCAGG	0.637													7	5					0	0	1	0	0	G	56726068	T	G	56726068	2	3	190	1	0	0	0	0	0	0	0	1	2134	1799	63	5		5	C20orf85	20	56726068	Silent	SNP	T	TCGA-HC-7821-01A-12D-2114-08	40377900	56726068	6299452	40	8840											
PLXNB2	23654	broad.mit.edu	37	chr22	50716552	50716552	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgggggcccaccttgacTgagagcagccgcgtcaggta	8	6	14	13	2	1	2	1	2	0	1	1	3	1	2	4	3	2	2	4	3	1	2			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chr22:50716552T>C	ENST00000449103.1	-	31	5021	c.4881A>G	c.(4879-4881)tcA>tcG	p.S1627S	PLXNB2_ENST00000359337.4_Silent_p.S1627S			O15031	PLXB2_HUMAN	plexin B2	1627					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCACCTTGACTGAGAGCAGCC	0.682													4	43					0	0	1	0	0	C	50716552	T	C	50716552	2	2	190	1	0	0	0	0	0	0	0	1	12172	1567	55	3		3	PLXNB2	22	50716552	Silent	SNP	T	TCGA-HC-7821-01A-12D-2114-08		50716552	588014	41	8841											
P2RY10	0	broad.mit.edu	37	chrX	78216116	78216116	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcactaatgtgaaatttcaAtactccctctatgcaaccac	13	12	4	12	0	3	1	2	1	1	0	4	1	4	1	2	0	3	1	2	0	6	4			TCGA-HC-7821-01A-12D-2114-08	TCGA-HC-7821-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0ec36148-fac7-4583-b63e-6e055faa5d8c	f7dc706c-fd50-4f2b-8b98-db4e3e844012	g.chrX:78216116A>T	ENST00000171757.2	+	4	379	c.99A>T	c.(97-99)caA>caT	p.Q33H	P2RY10_ENST00000544091.1_Missense_Mutation_p.Q33H|P2RY10_ENST00000475374.1_3'UTR	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	33						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						TGAAATTTCAATACTCCCTCT	0.428													8	61					0	0	1	0	0	T	78216116	A	T	78216116	3	4	190	1	0	0	0	0	1	0	0	0	11394	98	4	5	101	5	P2RY10	23	78216116	Missense_Mutation	SNP	A	TCGA-HC-7821-01A-12D-2114-08		78216116	77054444	42	8842											
SDF4	51150	broad.mit.edu	37	chr1	1154157	1154157	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acccagcctcacccaggtccCggacgatctccttcaccatg	8	7	7	19	2	3	0	2	0	1	0	5	2	4	1	6	2	1	0	6	2	0	1			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr1:1154157C>T	ENST00000263741.7	-	5	1020	c.728G>A	c.(727-729)cGg>cAg	p.R243Q	SDF4_ENST00000360001.6_Missense_Mutation_p.R243Q	NM_016176.3|NM_016547.2	NP_057260.2|NP_057631.1	Q9BRK5	CAB45_HUMAN	stromal cell derived factor 4	243	EF-hand 4.				cerebellum development|fat cell differentiation|response to ethanol|UV protection|zymogen granule exocytosis	bleb|Golgi lumen|late endosome|soluble fraction	calcium ion binding|identical protein binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		ACCCAGGTCCCGGACGATCTC	0.697													6	192					0	0	1	0	0	T	1154157	C	T	1154157	3	4	191	1	0	0	0	0	1	0	0	0	14016	652	23	1	488	1	SDF4	1	1154157	Missense_Mutation	SNP	C	TCGA-HC-8213-01A-11D-A29Q-08		1154157	248096464	1	8843											
KCNA3	3738	broad.mit.edu	37	chr1	111216759	111216759	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccggagctctcggggtactCgaagagcagccacacctggc	8	5	13	15	3	1	1	0	0	1	1	3	3	1	2	3	4	4	3	3	4	2	1			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr1:111216759C>T	ENST00000369769.2	-	1	896	c.673G>A	c.(673-675)Gag>Aag	p.E225K		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	225						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)		TCGGGGTACTCGAAGAGCAGC	0.677													44	98					0	0	1	0	0	T	111216759	C	T	111216759	3	4	191	1	0	0	0	0	1	0	0	0	8048	893	31	1	1058	1	KCNA3	1	111216759	Missense_Mutation	SNP	C	TCGA-HC-8213-01A-11D-A29Q-08	110062602	111216759	138033862	2	8844											
CGN	57530	broad.mit.edu	37	chr1	151509267	151509267	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcagaagaggaaattgagcGactggacggcctgaggaaga	15	4	16	6	2	0	5	0	2	0	3	0	9	0	8	1	4	2	1	1	4	3	1			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr1:151509267G>A	ENST00000271636.7	+	20	3501	c.3368G>A	c.(3367-3369)cGa>cAa	p.R1123Q		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	1117						myosin complex|tight junction	actin binding|motor activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GAAATTGAGCGACTGGACGGC	0.552													40	47					0	0	1	0	0	A	151509267	G	A	151509267	3	1	191	1	0	0	0	0	1	0	0	0	3325	1058	37	1	3442	1	CGN	1	151509267	Missense_Mutation	SNP	G	TCGA-HC-8213-01A-11D-A29Q-08	40292508	151509267	97741354	3	8845											
CACNA1E	777	broad.mit.edu	37	chr1	181745355	181745355	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgtctgggcagaatatgaccGagcagcatggtgcgtaggcc	9	7	15	10	3	1	2	0	1	1	1	1	3	1	2	2	3	3	4	2	3	3	2			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr1:181745355G>A	ENST00000526775.1	+	37	5366	c.5201G>A	c.(5200-5202)cGa>cAa	p.R1734Q	CACNA1E_ENST00000367567.4_Missense_Mutation_p.R1360Q|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R1704Q|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R1753Q|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R1734Q|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1685Q|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R1753Q	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1753					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GAATATGACCGAGCAGCATGG	0.612													79	104					0	0	1	0	0	A	181745355	G	A	181745355	3	1	191	1	0	0	0	0	1	0	0	0	2560	1058	37	1	5408	1	CACNA1E	1	181745355	Missense_Mutation	SNP	G	TCGA-HC-8213-01A-11D-A29Q-08	30236088	181745355	67505266	4	8846											
CFH	3075	broad.mit.edu	37	chr1	196711060	196711060	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccatacccatgggagagaaGaaggatgtgtataaggcggg	13	6	16	6	1	0	2	0	0	0	2	0	5	0	4	2	4	1	1	2	4	5	3			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr1:196711060G>A	ENST00000367429.4	+	19	3252	c.3012G>A	c.(3010-3012)aaG>aaA	p.K1004K		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1004	Sushi 17.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TGGGAGAGAAGAAGGATGTGT	0.368													5	90					0	0	1	0	0	A	196711060	G	A	196711060	2	1	191	1	0	0	0	0	0	0	0	1	3305	933	33	2		2	CFH	1	196711060	Silent	SNP	G	TCGA-HC-8213-01A-11D-A29Q-08	14965705	196711060	52539561	5	8847											
TMEM177	80775	broad.mit.edu	37	chr2	120438904	120438904	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcgccttggccagggaagtgGtgtacctggaaagcagtacc	9	8	14	10	1	0	0	0	0	0	0	1	2	0	2	4	4	3	3	4	4	4	3			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr2:120438904G>A	ENST00000424086.1	+	2	948	c.475G>A	c.(475-477)Gtg>Atg	p.V159M	TMEM177_ENST00000409951.1_Intron|TMEM177_ENST00000401466.1_Missense_Mutation_p.V159M|TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000272521.6_Missense_Mutation_p.V159M	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN	transmembrane protein 177	159						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					CAGGGAAGTGGTGTACCTGGA	0.662													8	166					0	0	1	0	0	A	120438904	G	A	120438904	3	1	191	1	0	0	0	0	1	0	0	0	16154	1261	44	2	477	2	TMEM177	2	120438904	Missense_Mutation	SNP	G	TCGA-HC-8213-01A-11D-A29Q-08		120438904	122760469	6	8848											
CADPS	8618	broad.mit.edu	37	chr3	62535600	62535600	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aattgagagataggggcatcCagctgaggtacatttcctcc	11	10	11	9	0	0	3	0	2	0	1	3	4	3	3	3	3	2	3	3	3	3	4			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr3:62535600C>G	ENST00000383710.4	-	11	2293	c.1944G>C	c.(1942-1944)ctG>ctC	p.L648L	CADPS_ENST00000283269.9_Silent_p.L648L|CADPS_ENST00000357948.3_Silent_p.L648L	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	648					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TAGGGGCATCCAGCTGAGGTA	0.473													40	70					0	0	1	0	0	G	62535600	C	G	62535600	2	3	191	1	0	0	0	0	0	0	0	1	2588	581	21	4		4	CADPS	3	62535600	Silent	SNP	C	TCGA-HC-8213-01A-11D-A29Q-08		62535600	135486830	7	8849											
EPHA3	2042	broad.mit.edu	37	chr3	89528621	89528621	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagcattaaagctctagaaaCgcaatcaaagaatggcccag	17	7	8	9	1	2	2	1	0	1	2	2	2	2	2	1	1	3	3	1	1	8	3			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr3:89528621C>T	ENST00000336596.2	+	17	3146	c.2921C>T	c.(2920-2922)aCg>aTg	p.T974M	EPHA3_ENST00000494014.1_3'UTR	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	974	SAM.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GCTCTAGAAACGCAATCAAAG	0.468										TSP Lung(6;0.00050)			7	30					0	0	1	0	0	T	89528621	C	T	89528621	3	4	191	1	0	0	0	0	1	0	0	0	5196	536	19	1	3013	1	EPHA3	3	89528621	Missense_Mutation	SNP	C	TCGA-HC-8213-01A-11D-A29Q-08	26993021	89528621	108493809	8	8850											
SORCS2	57537	broad.mit.edu	37	chr4	7725571	7725571	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccgtcagggcagagaacacgGcaggccacgatgaggcggtg	10	3	17	11	4	1	2	1	1	0	1	1	4	1	2	2	5	1	2	2	5	1	0			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr4:7725571G>A	ENST00000507866.2	+	19	2681	c.2572G>A	c.(2572-2574)Gca>Aca	p.A858T	SORCS2_ENST00000329016.9_Missense_Mutation_p.A686T	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	858	PKD.					integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						AGAGAACACGGCAGGCCACGA	0.582													33	60					0	0	1	0	0	A	7725571	G	A	7725571	3	1	191	1	0	0	0	0	1	0	0	0	14985	1203	42	2	2646	2	SORCS2	4	7725571	Missense_Mutation	SNP	G	TCGA-HC-8213-01A-11D-A29Q-08		7725571	183428705	9	8851											
CDH12	1010	broad.mit.edu	37	chr5	21854872	21854872	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtcgggtcatctgcatctGtggccttgacctggagtaca	7	11	13	10	1	3	1	1	1	2	0	4	2	3	2	2	4	2	2	2	4	1	2			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr5:21854872G>C	ENST00000382254.1	-	7	1640	c.554C>G	c.(553-555)aCa>aGa	p.T185R	CDH12_ENST00000522262.1_Intron|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.T185R	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	185	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						ATCTGCATCTGTGGCCTTGAC	0.413										HNSCC(59;0.17)			21	26					0	0	1	0	0	C	21854872	G	C	21854872	3	2	191	1	0	0	0	0	1	0	0	0	3120	1377	48	4	1866	4	CDH12	5	21854872	Missense_Mutation	SNP	G	TCGA-HC-8213-01A-11D-A29Q-08		21854872	159060388	10	8852											
SYNJ2	8871	broad.mit.edu	37	chr6	158514069	158514069	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccccacaggcgcccccacTccttccccgtcggcccccac	5	4	7	25	3	0	0	0	0	0	0	3	1	2	0	9	2	0	0	9	2	0	1			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr6:158514069T>A	ENST00000355585.4	+	26	3752	c.3677T>A	c.(3676-3678)cTc>cAc	p.L1226H	SYNJ2_ENST00000367122.2_Missense_Mutation_p.L1181H|SYNJ2_ENST00000367112.1_Missense_Mutation_p.L311H|SYNJ2_ENST00000367121.3_Missense_Mutation_p.L1226H	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1226	Pro-rich.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		GCGCCCCCACTCCTTCCCCGT	0.592													8	65					0	0	1	0	0	A	158514069	T	A	158514069	3	1	191	1	0	0	0	0	1	0	0	0	15510	1551	54	5	3779	5	SYNJ2	6	158514069	Missense_Mutation	SNP	T	TCGA-HC-8213-01A-11D-A29Q-08		158514069	12600998	11	8853											
ADCY1	107	broad.mit.edu	37	chr7	45750138	45750138	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttttctaggcatcaatgttGgccctgtggtggctggagtg	5	14	15	7	0	2	0	1	0	1	0	2	1	2	1	1	5	0	4	1	5	2	4			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr7:45750138G>T	ENST00000297323.7	+	19	2966	c.2944G>T	c.(2944-2946)Ggc>Tgc	p.G982C		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	982					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	CATCAATGTTGGCCCTGTGGT	0.577													8	115					0.000673444	0.000695168	1	1	0	T	45750138	G	T	45750138	3	4	191	1	0	0	0	0	1	0	0	0	291	1348	47	4	3018	4	ADCY1	7	45750138	Missense_Mutation	SNP	G	TCGA-HC-8213-01A-11D-A29Q-08		45750138	113388525	12	8854											
BAZ1B	9031	broad.mit.edu	37	chr7	72891995	72891995	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgtgttgggcagcccttcaGgggtatccaccaatctgaat	8	10	12	11	1	2	1	1	1	1	0	3	1	3	1	3	3	1	3	3	3	3	3			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr7:72891995G>T	ENST00000339594.4	-	7	2134	c.1796C>A	c.(1795-1797)cCt>cAt	p.P599H	BAZ1B_ENST00000404251.1_Missense_Mutation_p.P599H	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	599					ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				CAGCCCTTCAGGGGTATCCAC	0.458													6	161					0.00198382	0.00198382	1	1	0	T	72891995	G	T	72891995	3	4	191	1	0	0	0	0	1	0	0	0	1328	1000	35	4	2707	4	BAZ1B	7	72891995	Missense_Mutation	SNP	G	TCGA-HC-8213-01A-11D-A29Q-08	27141857	72891995	86246668	13	8855											
SMARCA2	6595	broad.mit.edu	37	chr9	2039779	2039779	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacaacagcagcagcaacaGcagcagcagcagcagcagca	17	0	10	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	10	0	0	3	0	rs113070757	byFrequency	TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr9:2039779G>A	ENST00000382203.1	+	4	878	c.669G>A	c.(667-669)caG>caA	p.Q223Q	SMARCA2_ENST00000349721.2_Silent_p.Q223Q|SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000357248.2_Silent_p.Q223Q|SMARCA2_ENST00000382194.1_Silent_p.Q223Q			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	223	Poly-Gln.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		agcagcaacagcagcagcagc	0.642													5	48					0	0	1	0	0	A	2039779	G	A	2039779	2	1	191	1	0	0	0	0	0	0	0	1	14823	962	34	2		2	SMARCA2	9	2039779	Silent	SNP	G	TCGA-HC-8213-01A-11D-A29Q-08		2039779	139173652	14	8856											
RAPGEF1	2889	broad.mit.edu	37	chr9	134503405	134503405	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctatgctgctgcagggggAgaggcggggcgactctccac	6	6	17	12	2	1	1	0	0	1	1	2	3	1	1	2	5	3	3	2	5	1	1			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr9:134503405A>G	ENST00000372195.1	-	9	1339	c.1096T>C	c.(1096-1098)Tcc>Ccc	p.S366P	RAPGEF1_ENST00000481260.1_5'UTR|RAPGEF1_ENST00000372190.3_Missense_Mutation_p.S367P|RAPGEF1_ENST00000372189.3_Missense_Mutation_p.S349P			Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	349					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		CTGCAGGGGGAGAGGCGGGGC	0.552													3	12					0	0	1	0	0	G	134503405	A	G	134503405	3	3	191	1	0	0	0	0	1	0	0	0	13095	304	11	3	2252	3	RAPGEF1	9	134503405	Missense_Mutation	SNP	A	TCGA-HC-8213-01A-11D-A29Q-08	132463626	134503405	6710026	15	8857											
MUC6	4588	broad.mit.edu	37	chr11	1027159	1027159	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acccaggaacatctgtggccGctgcgggcaactcagccgcc	8	5	12	16	3	2	0	1	0	1	0	2	1	2	1	4	3	4	2	4	3	2	0			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr11:1027159G>A	ENST00000421673.2	-	18	2316	c.2266C>T	c.(2266-2268)Cgg>Tgg	p.R756W		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	756					maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ATCTGTGGCCGCTGCGGGCAA	0.701													5	92					0	0	1	0	0	A	1027159	G	A	1027159	3	1	191	1	0	0	0	0	1	0	0	0	10028	1086	38	1	5117	1	MUC6	11	1027159	Missense_Mutation	SNP	G	TCGA-HC-8213-01A-11D-A29Q-08		1027159	133979357	16	8858											
KBTBD6	89890	broad.mit.edu	37	chr13	41705461	41705461	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcctgggctgagcagctagaTagatgtcatggtcaggagag	10	9	15	7	0	2	4	2	1	0	3	3	5	3	4	1	3	2	3	1	3	2	2			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr13:41705461T>A	ENST00000379485.1	-	1	1421	c.1187A>T	c.(1186-1188)tAt>tTt	p.Y396F	KBTBD6_ENST00000499385.2_Missense_Mutation_p.Y330F	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	396							protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		AGCAGCTAGATAGATGTCATG	0.517													78	101					0	0	1	0	0	A	41705461	T	A	41705461	3	1	191	1	0	0	0	0	1	0	0	0	8041	1406	49	5	841	5	KBTBD6	13	41705461	Missense_Mutation	SNP	T	TCGA-HC-8213-01A-11D-A29Q-08		41705461	73464417	17	8859											
LMO7	4008	broad.mit.edu	37	chr13	76379699	76379699	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctcttgttatttggaagaGgaaaaagcaaagacaagaag	17	9	10	5	0	1	3	0	0	1	3	2	5	2	5	1	2	1	2	1	2	7	3			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr13:76379699G>A	ENST00000357063.3	+	10	2415	c.1155G>A	c.(1153-1155)gaG>gaA	p.E385E	LMO7_ENST00000465261.2_Silent_p.E100E|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000341547.4_Intron|LMO7_ENST00000321797.8_Silent_p.E100E|LMO7_ENST00000526202.1_Intron|LMO7_ENST00000377534.3_Silent_p.E385E			Q8WWI1	LMO7_HUMAN	LIM domain 7	385						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		ATTTGGAAGAGGAAAAAGCAA	0.433													5	197					0	0	1	0	0	A	76379699	G	A	76379699	2	1	191	1	0	0	0	0	0	0	0	1	8896	991	35	2		2	LMO7	13	76379699	Silent	SNP	G	TCGA-HC-8213-01A-11D-A29Q-08	34674238	76379699	38790179	18	8860											
ZSCAN2	54993	broad.mit.edu	37	chr15	85164527	85164527	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctacgaatgtaaagaatgCggcgaaagctttagttacaa	15	9	9	8	3	0	1	0	0	0	1	0	3	0	1	1	1	4	3	1	1	9	5			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr15:85164527C>T	ENST00000448803.2	+	3	1393	c.1101C>T	c.(1099-1101)tgC>tgT	p.C367C	ZSCAN2_ENST00000546148.1_Silent_p.C367C|ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000538076.1_Intron|ZSCAN2_ENST00000327179.6_Silent_p.C366C|ZSCAN2_ENST00000358472.3_Silent_p.C217C	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	367					cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.C367C(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		GTAAAGAATGCGGCGAAAGCT	0.502													4	255					0	0	1	0	0	T	85164527	C	T	85164527	2	4	191	1	0	0	0	0	0	0	0	1	18272	776	27	1		1	ZSCAN2	15	85164527	Silent	SNP	C	TCGA-HC-8213-01A-11D-A29Q-08		85164527	17366865	19	8861											
ZSCAN10	84891	broad.mit.edu	37	chr16	3139130	3139130	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcgtgggtgcgcaggtggcGcagcaggtgggagttgcggc	4	6	23	8	4	0	0	0	0	0	0	0	1	0	1	0	7	3	4	0	7	0	1			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr16:3139130G>A	ENST00000252463.2	-	5	2227	c.2140C>T	c.(2140-2142)Cgc>Tgc	p.R714C	ZSCAN10_ENST00000575108.1_Missense_Mutation_p.R375C|ZSCAN10_ENST00000538082.2_Missense_Mutation_p.R632C	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	714					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						CGCAGGTGGCGCAGCAGGTGG	0.711													5	13					0	0	1	0	0	A	3139130	G	A	3139130	3	1	191	1	0	0	0	0	1	0	0	0	18269	1087	38	1	41	1	ZSCAN10	16	3139130	Missense_Mutation	SNP	G	TCGA-HC-8213-01A-11D-A29Q-08		3139130	87215623	20	8862											
WWOX	51741	broad.mit.edu	37	chr16	78466400	78466400	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttaagatttacagatattaaCgactccttgggaaaactgga	15	12	8	6	1	0	2	0	0	0	2	1	5	1	4	1	2	3	0	1	2	6	6	rs62034095		TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr16:78466400C>T	ENST00000566780.1	+	8	1173	c.807C>T	c.(805-807)aaC>aaT	p.N269N	WWOX_ENST00000408984.3_Silent_p.N269N|WWOX_ENST00000402655.2_Intron|WWOX_ENST00000539474.2_Intron|WWOX_ENST00000406884.2_Intron	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	269	Interaction with MAPT (By similarity).|Mediates targeting to the mitochondria (By similarity).				apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		CAGATATTAACGACTCCTTGG	0.398													29	58					0	0	1	0	0	T	78466400	C	T	78466400	2	4	191	1	0	0	0	0	0	0	0	1	17474	535	19	1		1	WWOX	16	78466400	Silent	SNP	C	TCGA-HC-8213-01A-11D-A29Q-08	75327270	78466400	11888353	21	8863											
CD300LB	124599	broad.mit.edu	37	chr17	72522000	72522000	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccatggtcacagtgaacGtgcggtctttctgattgtcc	6	13	10	12	2	3	2	1	2	2	0	5	2	5	2	3	2	2	0	3	2	1	2			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr17:72522000G>A	ENST00000392621.1	-	2	372	c.368C>T	c.(367-369)aCg>aTg	p.T123M	CD300LB_ENST00000314401.3_Missense_Mutation_p.T123M	NM_174892.2	NP_777552.2	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	86						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						CACAGTGAACGTGCGGTCTTT	0.522													10	185					0	0	1	0	0	A	72522000	G	A	72522000	3	1	191	1	0	0	0	0	1	0	0	0	3021	1145	40	1	360	1	CD300LB	17	72522000	Missense_Mutation	SNP	G	TCGA-HC-8213-01A-11D-A29Q-08		72522000	8673210	22	8864			1	22		2	2	98	G		7.519884e-05
CD300LB	124599	broad.mit.edu	37	chr17	72522097	72522097	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatcttgcatgtatcccagcGcacccctcggcaccaccact	8	8	7	18	2	1	0	0	0	1	0	3	1	2	0	5	1	2	4	5	1	1	2			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chr17:72522097G>A	ENST00000392621.1	-	2	275	c.271C>T	c.(271-273)Cgc>Tgc	p.R91C	CD300LB_ENST00000314401.3_Missense_Mutation_p.R91C	NM_174892.2	NP_777552.2	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	54	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						GTATCCCAGCGCACCCCTCGG	0.547													94	142					0	0	1	0	0	A	72522097	G	A	72522097	3	1	191	1	0	0	0	0	1	0	0	0	3021	1087	38	1	457	1	CD300LB	17	72522097	Missense_Mutation	SNP	G	TCGA-HC-8213-01A-11D-A29Q-08	97	72522097	8673113	23	8865			1	22		2	2	98	G		7.519884e-05
TFDP3	51270	broad.mit.edu	37	chrX	132351392	132351392	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	actctagcccaaaagtcatgCccatccacatcagcacttct	12	9	4	16	0	4	0	2	0	2	0	5	0	5	0	3	0	3	1	3	0	3	2			TCGA-HC-8213-01A-11D-A29Q-08	TCGA-HC-8213-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f375497-1993-42be-aae3-0c55638053e7	942d7fa6-03b5-4661-9806-b535058fed63	g.chrX:132351392C>T	ENST00000310125.4	-	1	984	c.896G>A	c.(895-897)gGc>gAc	p.G299D		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	299	DCB2 (By similarity).|Involved in negatively regulating E2F activity.					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					AAAAGTCATGCCCATCCACAT	0.478													4	53					0	0	1	0	0	T	132351392	C	T	132351392	3	4	191	1	0	0	0	0	1	0	0	0	15859	739	26	2	325	2	TFDP3	23	132351392	Missense_Mutation	SNP	C	TCGA-HC-8213-01A-11D-A29Q-08		132351392	22919168	24	8866											
CHD5	26038	broad.mit.edu	37	chr1	6228311	6228311	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacagggaaaaagtcatcgaAggcttcaagaccaccatctt	15	7	8	11	1	3	1	2	0	1	1	4	3	3	2	2	2	0	1	2	2	4	2			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr1:6228311A>T	ENST00000262450.3	-	2	205	c.106T>A	c.(106-108)Ttc>Atc	p.F36I	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	36					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		AAGTCATCGAAGGCTTCAAGA	0.498													6	217					0	0	1	0	0	T	6228311	A	T	6228311	3	4	192	1	0	0	0	0	1	0	0	0	3350	72	3	5	5918	5	CHD5	1	6228311	Missense_Mutation	SNP	A	TCGA-HC-8216-01A-11D-A29Q-08		6228311	243022310	1	8867											
DMRTA2	63950	broad.mit.edu	37	chr1	50885066	50885066	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcccagccctggcgccggCgcggcctcaccctcttcttt	2	8	10	21	5	3	0	1	0	2	0	3	0	3	0	6	3	1	0	6	3	0	2			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr1:50885066C>T	ENST00000404795.3	-	3	1292	c.900G>A	c.(898-900)gcG>gcA	p.A300A	DMRTA2_ENST00000418121.1_Silent_p.A300A	NM_032110.2	NP_115486.1	Q96SC8	DMTA2_HUMAN	DMRT-like family A2	300	Gly-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(4)|pancreas(1)	6						CTGGCGCCGGCGCGGCCTCAC	0.721													9	111					0	0	1	0	0	T	50885066	C	T	50885066	2	4	192	1	0	0	0	0	0	0	0	1	4617	755	27	1		1	DMRTA2	1	50885066	Silent	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	44656755	50885066	198365555	2	8868											
DAB1	1600	broad.mit.edu	37	chr1	57480801	57480801	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcttgtcggtctgtggaCttgacctggtggagtcactc	4	13	15	9	1	2	1	1	1	1	0	4	3	2	3	1	5	0	1	1	5	0	2			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr1:57480801C>T	ENST00000371236.2	-	12	1462	c.1199G>A	c.(1198-1200)aGt>aAt	p.S400N	DAB1_ENST00000414851.2_Missense_Mutation_p.S382N|DAB1_ENST00000371234.4_Missense_Mutation_p.S400N|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000420954.2_Missense_Mutation_p.S398N|DAB1_ENST00000439789.2_Missense_Mutation_p.S314N|DAB1_ENST00000371231.1_Missense_Mutation_p.S433N			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	433					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GGTCTGTGGACTTGACCTGGT	0.592													8	89					0	0	1	0	0	T	57480801	C	T	57480801	3	4	192	1	0	0	0	0	1	0	0	0	4241	565	20	2	480	2	DAB1	1	57480801	Missense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	6595735	57480801	191769820	3	8869											
DEPDC1	55635	broad.mit.edu	37	chr1	68944925	68944925	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgatccattaagaaagaaaCtaatcttccagcaagaagct	18	9	6	8	0	1	4	0	1	1	3	3	4	3	4	2	0	3	2	2	0	6	3			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr1:68944925C>A	ENST00000456315.2	-	10	2128	c.2014G>T	c.(2014-2016)Gtt>Ttt	p.V672F	RP4-694A7.2_ENST00000425820.1_RNA|DEPDC1_ENST00000370966.5_Missense_Mutation_p.V388F	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	672					intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		AAGAAAGAAACTAATCTTCCA	0.353													6	47					3.59834e-05	4.08902e-05	1	1	0	A	68944925	C	A	68944925	3	1	192	1	0	0	0	0	1	0	0	0	4467	565	20	4	433	4	DEPDC1	1	68944925	Missense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	11464124	68944925	180305696	4	8870											
LYSMD1	388695	broad.mit.edu	37	chr1	151137675	151137675	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aggcttccatatgaacgagcCcggctcccttgaagcagtcc	9	8	10	14	2	0	2	0	2	0	0	3	3	3	2	4	2	3	3	4	2	3	3			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr1:151137675C>T	ENST00000368908.5	-	1	720	c.60G>A	c.(58-60)cgG>cgA	p.R20R	LYSMD1_ENST00000440902.2_Intron	NM_212551.4	NP_997716.1	Q96S90	LYSM1_HUMAN	LysM, putative peptidoglycan-binding, domain containing 1	20					cell wall macromolecule catabolic process					endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			ATGAACGAGCCCGGCTCCCTT	0.622													32	69					0	0	1	0	0	T	151137675	C	T	151137675	2	4	192	1	0	0	0	0	0	0	0	1	9170	610	22	2		2	LYSMD1	1	151137675	Silent	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	82192750	151137675	98112946	5	8871											
CD5L	922	broad.mit.edu	37	chr1	157804437	157804437	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcctgtctggcacacggtatAccactggttctggtgcttca	6	12	11	12	1	3	0	1	0	2	0	3	0	3	0	2	4	2	4	2	4	2	4			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr1:157804437A>T	ENST00000368174.4	-	4	574	c.478T>A	c.(478-480)Tat>Aat	p.Y160N		NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	160	SRCR 2.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CACACGGTATACCACTGGTTC	0.617													21	127					0	0	1	0	0	T	157804437	A	T	157804437	3	4	192	1	0	0	0	0	1	0	0	0	3049	391	14	5	577	5	CD5L	1	157804437	Missense_Mutation	SNP	A	TCGA-HC-8216-01A-11D-A29Q-08	6666762	157804437	91446184	6	8872											
SPTA1	6708	broad.mit.edu	37	chr1	158585163	158585163	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacaatcttggttagttgacGcttcatcgcctggatctcct	7	14	8	12	2	3	1	1	1	2	0	5	2	3	2	2	2	0	3	2	2	2	4			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr1:158585163G>A	ENST00000368148.3	-	48	6811	c.6631C>T	c.(6631-6633)Cgt>Tgt	p.R2211C	SPTA1_ENST00000368147.3_Missense_Mutation_p.R2208C	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2211					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GTTAGTTGACGCTTCATCGCC	0.478													30	124					0	0	1	0	0	A	158585163	G	A	158585163	3	1	192	1	0	0	0	0	1	0	0	0	15172	1087	38	1	648	1	SPTA1	1	158585163	Missense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	780726	158585163	90665458	7	8873											
ITLN1	55600	broad.mit.edu	37	chr1	160850469	160850469	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccgttgtcagtccaacaCtttccttctccatatttcac	7	14	6	14	1	3	0	2	0	1	0	6	0	5	0	4	1	1	1	4	1	2	5			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr1:160850469C>T	ENST00000326245.3	-	6	709	c.594G>A	c.(592-594)aaG>aaA	p.K198K	ITLN1_ENST00000487531.1_5'UTR	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	198	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CAGTCCAACACTTTCCTTCTC	0.458													8	142					0	0	1	0	0	T	160850469	C	T	160850469	2	4	192	1	0	0	0	0	0	0	0	1	7954	564	20	2		2	ITLN1	1	160850469	Silent	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	2265306	160850469	88400152	8	8874											
SELP	6403	broad.mit.edu	37	chr1	169582313	169582313	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggtggctgcagttcatgAgcacgtgttgagggagctca	8	9	17	7	1	2	2	2	2	0	0	2	4	2	3	0	3	3	6	0	3	0	2			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr1:169582313A>G	ENST00000263686.6	-	5	666	c.629T>C	c.(628-630)cTc>cCc	p.L210P	SELP_ENST00000367794.2_Missense_Mutation_p.L210P|SELP_ENST00000367792.2_Missense_Mutation_p.L210P|SELP_ENST00000367788.2_Missense_Mutation_p.L210P|SELP_ENST00000458599.2_Missense_Mutation_p.L210P|SELP_ENST00000367791.2_Missense_Mutation_p.L210P|SELP_ENST00000367786.2_Missense_Mutation_p.L210P|SELP_ENST00000367793.2_Missense_Mutation_p.L210P	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	210	Sushi 1.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	GCAGTTCATGAGCACGTGTTG	0.463													14	57					0	0	1	0	0	G	169582313	A	G	169582313	3	3	192	1	0	0	0	0	1	0	0	0	14073	304	11	3	1911	3	SELP	1	169582313	Missense_Mutation	SNP	A	TCGA-HC-8216-01A-11D-A29Q-08	8731844	169582313	79668308	9	8875											
SEC16B	89866	broad.mit.edu	37	chr1	177927436	177927436	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccacagggggctgccgcttgTacttctccagcttcttgcag	5	11	11	14	1	2	0	0	0	2	0	3	0	2	0	3	2	4	5	3	2	1	5			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr1:177927436T>A	ENST00000308284.6	-	10	1285	c.1196A>T	c.(1195-1197)tAc>tTc	p.Y399F	RP4-798P15.3_ENST00000528461.1_3'UTR|SEC16B_ENST00000464631.1_Missense_Mutation_p.Y400F|RP4-798P15.3_ENST00000354921.2_5'UTR	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	399					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						CTGCCGCTTGTACTTCTCCAG	0.572													9	33					0	0	1	0	0	A	177927436	T	A	177927436	3	1	192	1	0	0	0	0	1	0	0	0	14041	1638	57	5	2054	5	SEC16B	1	177927436	Missense_Mutation	SNP	T	TCGA-HC-8216-01A-11D-A29Q-08	8345123	177927436	71323185	10	8876											
HSD11B1	3290	broad.mit.edu	37	chr1	209879155	209879155	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttccttttggggttccccaGagatgctccaaggaaagaaa	11	10	10	10	0	0	2	0	0	0	2	3	4	3	3	4	3	1	2	4	3	3	4			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr1:209879155G>C	ENST00000367028.2	+	3	257		c.e3-1		HSD11B1_ENST00000261465.1_Splice_Site|HSD11B1_ENST00000367027.3_Splice_Site|RP1-28O10.1_ENST00000441672.1_RNA	NM_001206741.1	NP_001193670.1	P28845	DHI1_HUMAN	hydroxysteroid (11-beta) dehydrogenase 1						glucocorticoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	11-beta-hydroxysteroid dehydrogenase|11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	NADH(DB00157)	GGGTTCCCCAGAGATGCTCCA	0.488													6	81					0	0	1	0	0	C	209879155	G	C	209879155	5	2	192	1	0	0	0	0	0	0	1	0	7416	956	33	4	94	4	HSD11B1	1	209879155	Splice_Site	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	31951719	209879155	39371466	11	8877											
OR2T4	127074	broad.mit.edu	37	chr1	248525215	248525215	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacatttctgtcactgtgccCaagatgctcctggaccaggt	8	12	9	12	0	2	1	1	0	1	1	3	2	3	2	3	2	3	1	3	2	2	2	rs148489116		TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr1:248525215C>T	ENST00000366475.1	+	1	333	c.333C>T	c.(331-333)ccC>ccT	p.P111P		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCACTGTGCCCAAGATGCTCC	0.488													18	262					0	0	1	0	0	T	248525215	C	T	248525215	2	4	192	1	0	0	0	0	0	0	0	1	11075	581	21	2		2	OR2T4	1	248525215	Silent	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	38646060	248525215	725406	12	8878											
COLEC11	78989	broad.mit.edu	37	chr2	3691606	3691606	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcccaacaatgcctacgaCgaggaggactgcgtggagat	12	5	14	10	3	0	1	0	0	0	1	0	7	0	3	2	3	5	0	2	3	3	1			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr2:3691606C>T	ENST00000403096.3	+	6	1127	c.636C>T	c.(634-636)gaC>gaT	p.D212D	COLEC11_ENST00000418971.2_Silent_p.D252D|COLEC11_ENST00000404205.1_Silent_p.D164D|COLEC11_ENST00000402922.1_Silent_p.D188D|COLEC11_ENST00000382062.2_Silent_p.D214D|COLEC11_ENST00000349077.4_Silent_p.D238D|COLEC11_ENST00000402794.1_Silent_p.D188D|COLEC11_ENST00000236693.7_Silent_p.D235D|COLEC11_ENST00000487365.1_3'UTR	NM_001255986.1	NP_001242915.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	238	C-type lectin.					collagen	mannose binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		ATGCCTACGACGAGGAGGACT	0.592													7	107					0	0	1	0	0	T	3691606	C	T	3691606	2	4	192	1	0	0	0	0	0	0	0	1	3734	535	19	1		1	COLEC11	2	3691606	Silent	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08		3691606	239507767	13	8879											
RAD51AP2	729475	broad.mit.edu	37	chr2	17696504	17696504	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaactctcattaggaactTcctgttctccattattgggt	10	15	6	10	0	2	0	1	0	2	0	5	1	3	1	2	2	3	1	2	2	5	5			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr2:17696504T>C	ENST00000399080.2	-	1	3202	c.3179A>G	c.(3178-3180)gAa>gGa	p.E1060G		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	1060										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ATTAGGAACTTCCTGTTCTCC	0.348													3	16					0	0	1	0	0	C	17696504	T	C	17696504	3	2	192	1	0	0	0	0	1	0	0	0	13039	1783	62	3	312	3	RAD51AP2	2	17696504	Missense_Mutation	SNP	T	TCGA-HC-8216-01A-11D-A29Q-08	14004898	17696504	225502869	14	8880											
APOB	338	broad.mit.edu	37	chr2	21258471	21258471	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctacttgtaggagaaaggcAggaagaggtgttgctccttg	10	10	14	7	0	0	2	0	0	0	2	1	4	1	3	2	4	2	4	2	4	4	5			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr2:21258471A>G	ENST00000233242.1	-	7	930	c.803T>C	c.(802-804)cTg>cCg	p.L268P	APOB_ENST00000399256.4_Missense_Mutation_p.L268P	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	268	Heparin-binding.|Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GGAGAAAGGCAGGAAGAGGTG	0.493													4	60					0	0	1	0	0	G	21258471	A	G	21258471	3	3	192	1	0	0	0	0	1	0	0	0	782	188	7	3	12980	3	APOB	2	21258471	Missense_Mutation	SNP	A	TCGA-HC-8216-01A-11D-A29Q-08	3561967	21258471	221940902	15	8881											
SRBD1	55133	broad.mit.edu	37	chr2	45773897	45773897	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaacatccagtggtgcaaaAtaattcttcattatcaggtc	14	12	6	9	0	3	0	2	0	1	0	5	0	4	0	1	2	2	1	1	2	5	4			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr2:45773897A>G	ENST00000263736.4	-	14	1910	c.1848T>C	c.(1846-1848)taT>taC	p.Y616Y	SRBD1_ENST00000535761.1_Silent_p.Y135Y	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	616					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			GTGGTGCAAAATAATTCTTCA	0.403													3	65					0	0	1	0	0	G	45773897	A	G	45773897	2	3	192	1	0	0	0	0	0	0	0	1	15189	108	4	3		3	SRBD1	2	45773897	Silent	SNP	A	TCGA-HC-8216-01A-11D-A29Q-08	24515426	45773897	197425476	16	8882											
NAGK	55577	broad.mit.edu	37	chr2	71300700	71300700	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catgatatcggctacgtcaaAcaggccatgttccactattt	11	12	7	11	2	1	1	1	1	0	0	3	1	2	1	2	2	2	2	2	2	4	5			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr2:71300700A>T	ENST00000418807.3	+	5	566	c.402A>T	c.(400-402)aaA>aaT	p.K134N	NAGK_ENST00000244204.5_Missense_Mutation_p.K185N|NAGK_ENST00000455662.2_Missense_Mutation_p.K231N			Q9UJ70	NAGK_HUMAN	N-acetylglucosamine kinase	185					N-acetylglucosamine metabolic process|N-acetylmannosamine metabolic process		ATP binding|N-acetylglucosamine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|urinary_tract(1)	18					N-Acetyl-D-glucosamine(DB00141)	GCTACGTCAAACAGGCCATGT	0.522													27	219					0	0	1	0	0	T	71300700	A	T	71300700	3	4	192	1	0	0	0	0	1	0	0	0	10190	40	2	5	715	5	NAGK	2	71300700	Missense_Mutation	SNP	A	TCGA-HC-8216-01A-11D-A29Q-08	25526803	71300700	171898673	17	8883											
IWS1	55677	broad.mit.edu	37	chr2	128262666	128262666	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctttccgaatcactgattcgGggtttgggaagctcttcatt	7	15	10	9	2	3	1	2	1	1	0	5	3	4	2	1	3	1	2	1	3	2	5			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr2:128262666G>C	ENST00000295321.4	-	3	1072	c.813C>G	c.(811-813)ccC>ccG	p.P271P	IWS1_ENST00000455721.2_Silent_p.P278P|AC010976.2_ENST00000599001.1_RNA	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	271	3 X approximate tandem repeats.|Glu-rich.				transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		CACTGATTCGGGGTTTGGGAA	0.522													32	275					0	0	1	0	0	C	128262666	G	C	128262666	2	2	192	1	0	0	0	0	0	0	0	1	7975	1219	43	4		4	IWS1	2	128262666	Silent	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	56961966	128262666	114936707	18	8884											
WDR33	55339	broad.mit.edu	37	chr2	128477088	128477088	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatccttggggtggaggcccCtgcatgcctcggatctcctg	4	10	14	13	1	1	0	0	0	1	0	4	3	2	2	5	5	2	1	5	5	0	1			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr2:128477088C>A	ENST00000322313.4	-	16	2669	c.2511G>T	c.(2509-2511)caG>caT	p.Q837H		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	837					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GTGGAGGCCCCTGCATGCCTC	0.632													22	37					1.96292e-10	2.36904e-10	1	1	0	A	128477088	C	A	128477088	3	1	192	1	0	0	0	0	1	0	0	0	17347	680	24	4	1527	4	WDR33	2	128477088	Missense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	214422	128477088	114722285	19	8885											
SCN2A	6326	broad.mit.edu	37	chr2	166245953	166245953	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgcccttcgaatacagatGgaagagcgattcatggcatc	12	9	11	9	2	1	2	1	0	0	2	3	6	1	3	1	2	3	1	1	2	3	3			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr2:166245953G>T	ENST00000375437.2	+	27	5927	c.5637G>T	c.(5635-5637)atG>atT	p.M1879I	SCN2A_ENST00000283256.6_Missense_Mutation_p.M1879I|SCN2A_ENST00000375427.2_Missense_Mutation_p.M1879I|SCN2A_ENST00000357398.3_Missense_Mutation_p.M1879I	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1879					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GAATACAGATGGAAGAGCGAT	0.463													4	81					2.56e-06	3.00671e-06	1	1	0	T	166245953	G	T	166245953	3	4	192	1	0	0	0	0	1	0	0	0	13970	1348	47	4	5835	4	SCN2A	2	166245953	Missense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	37768865	166245953	76953420	20	8886											
SCN1A	6323	broad.mit.edu	37	chr2	166848422	166848422	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttcagtagcaacactgaagTtctccaggatgaccgcgatg	11	9	10	11	2	2	2	1	2	1	0	3	4	2	3	2	1	2	3	2	1	3	3			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr2:166848422T>A	ENST00000423058.2	-	26	5380	c.5363A>T	c.(5362-5364)aAc>aTc	p.N1788I	SCN1A_ENST00000409050.1_Missense_Mutation_p.N1760I|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.N1788I|SCN1A_ENST00000375405.3_Missense_Mutation_p.N1777I	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1788						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AACACTGAAGTTCTCCAGGAT	0.448													6	161					0	0	1	0	0	A	166848422	T	A	166848422	3	1	192	1	0	0	0	0	1	0	0	0	13968	1725	60	5	670	5	SCN1A	2	166848422	Missense_Mutation	SNP	T	TCGA-HC-8216-01A-11D-A29Q-08	602469	166848422	76350951	21	8887											
SGOL2	151246	broad.mit.edu	37	chr2	201438669	201438669	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgaacaagatgaaatttaaAgtcaaccggagaacccaaaa	21	6	7	7	1	1	4	1	2	0	2	1	5	1	4	2	1	3	0	2	1	9	2			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr2:201438669A>C	ENST00000357799.4	+	7	3698	c.3600A>C	c.(3598-3600)aaA>aaC	p.K1200N		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	1200					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	p.K1200N(1)		NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						TGAAATTTAAAGTCAACCGGA	0.318													4	58					0	0	1	0	0	C	201438669	A	C	201438669	3	2	192	1	0	0	0	0	1	0	0	0	14271	69	3	5	3622	5	SGOL2	2	201438669	Missense_Mutation	SNP	A	TCGA-HC-8216-01A-11D-A29Q-08	34590247	201438669	41760704	22	8888											
SPEG	10290	broad.mit.edu	37	chr2	220350132	220350132	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccgcggaaggacaaggggttAtcgccaccaaacctctctgc	10	6	11	14	3	1	0	0	0	1	0	3	2	1	2	4	4	2	1	4	4	4	1			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr2:220350132A>G	ENST00000312358.7	+	31	7806	c.7674A>G	c.(7672-7674)ttA>ttG	p.L2558L	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2558					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		ACAAGGGGTTATCGCCACCAA	0.612													4	107					0	0	1	0	0	G	220350132	A	G	220350132	2	3	192	1	0	0	0	0	0	0	0	1	15092	446	16	3		3	SPEG	2	220350132	Silent	SNP	A	TCGA-HC-8216-01A-11D-A29Q-08	18911463	220350132	22849241	23	8889											
STK11IP	114790	broad.mit.edu	37	chr2	220473351	220473351	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtcccctggaggggcctgaGggcgtacggggcagggaatg	6	6	20	9	2	0	1	0	1	0	0	1	3	1	3	3	7	1	2	3	7	2	1			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr2:220473351G>T	ENST00000456909.1	+	15	1740	c.1650G>T	c.(1648-1650)gaG>gaT	p.E550D	STK11IP_ENST00000295641.10_Missense_Mutation_p.E561D			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	561	Glu-rich.				protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGGGCCTGAGGGCGTACGGG	0.602													3	54					0.004672	0.0049253	1	1	0	T	220473351	G	T	220473351	3	4	192	1	0	0	0	0	1	0	0	0	15344	991	35	4	1741	4	STK11IP	2	220473351	Missense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	123219	220473351	22726022	24	8890											
UGT1A4	0	broad.mit.edu	37	chr2	234628298	234628309	+	In_Frame_Del	DEL	GGCATCAACTGT	GGCATCAACTGT	-																															ccaacatggtcttcattgggGgcatcaactgtgccaacggg																										TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr2:234628298_234628309delGGCATCAACTGT	ENST00000373409.3	+	1	875_886	c.832_843delGGCATCAACTGT	c.(832-843)del	p.GINC278del	UGT1A7_ENST00000373426.3_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000305139.6_Intron	NM_007120.2	NP_009051.1														autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)		CTTCATTGGGGGCATCAACTGTGCCAACGGGA	0.476													23	229	---	---	---	---						-	234628309	GGCATCAACTGT	-	234628298	7	5	192	1	0	1	0	1	0	0	0	0	17007	1232	43	0	834	0	UGT1A4	2	234628298	In_Frame_Del	DEL	GGCATCAACTGT	TCGA-HC-8216-01A-11D-A29Q-08	14154947	234628298	8571075	25	8891											
HDLBP	3069	broad.mit.edu	37	chr2	242189366	242189366	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaggagggatgcgcacggAcaccttgtactggtctttga	8	10	14	9	2	2	1	1	1	1	0	2	4	2	4	1	4	2	2	1	4	1	3			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr2:242189366A>C	ENST00000391975.1	-	12	1629	c.1402T>G	c.(1402-1404)Tcc>Gcc	p.S468A	HDLBP_ENST00000391976.2_Missense_Mutation_p.S468A|HDLBP_ENST00000476807.1_5'UTR|HDLBP_ENST00000310931.4_Missense_Mutation_p.S468A|HDLBP_ENST00000427183.2_Missense_Mutation_p.S435A	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	468	KH 5.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		ATGCGCACGGACACCTTGTAC	0.517													7	115					0	0	1	0	0	C	242189366	A	C	242189366	3	2	192	1	0	0	0	0	1	0	0	0	7066	275	10	5	2472	5	HDLBP	2	242189366	Missense_Mutation	SNP	A	TCGA-HC-8216-01A-11D-A29Q-08	7561068	242189366	1010007	26	8892											
THAP4	51078	broad.mit.edu	37	chr2	242573471	242573471	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttaaccattggattagaCgttttgagtcctttaggggg	8	16	11	6	1	0	2	0	1	0	1	1	3	1	3	2	3	1	1	2	3	3	8			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr2:242573471C>T	ENST00000407315.1	-	2	532	c.101G>A	c.(100-102)cGt>cAt	p.R34H		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	34							DNA binding|metal ion binding			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		TTGGATTAGACGTTTTGAGTC	0.368													7	93					0	0	1	0	0	T	242573471	C	T	242573471	3	4	192	1	0	0	0	0	1	0	0	0	15906	536	19	1	1660	1	THAP4	2	242573471	Missense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	384105	242573471	625902	27	8893											
CPNE9	151835	broad.mit.edu	37	chr3	9771372	9771372	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gatcccagctccagagcagcCctgaggattccacatatcca	11	7	8	15	0	0	2	0	1	0	1	4	4	4	3	5	1	3	2	5	1	1	2			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr3:9771372C>T	ENST00000383832.3	+	21	1848	c.1658C>T	c.(1657-1659)cCc>cTc	p.P553L		NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	553										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					CCAGAGCAGCCCTGAGGATTC	0.612													4	42					0	0	1	0	0	T	9771372	C	T	9771372	3	4	192	1	0	0	0	0	1	0	0	0	3842	623	22	2	1736	2	CPNE9	3	9771372	Missense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08		9771372	188251058	28	8894											
SCN5A	6331	broad.mit.edu	37	chr3	38592950	38592950	+	Missense_Mutation	SNP	C	C	A																															tgcggatccccttggcccctCggatcagtctgaggatgcgg																										TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr3:38592950C>A	ENST00000413689.1	-	28	5106	c.4913G>T	c.(4912-4914)cGa>cTa	p.R1638L	SCN5A_ENST00000333535.4_Missense_Mutation_p.R1638L|SCN5A_ENST00000425664.1_Missense_Mutation_p.R1620L|SCN5A_ENST00000455624.2_Missense_Mutation_p.R1605L|SCN5A_ENST00000443581.1_Missense_Mutation_p.R1637L|SCN5A_ENST00000451551.2_Missense_Mutation_p.R1584L|SCN5A_ENST00000450102.2_Missense_Mutation_p.R1584L|SCN5A_ENST00000449557.2_Missense_Mutation_p.R1584L|SCN5A_ENST00000423572.2_Missense_Mutation_p.R1637L|SCN5A_ENST00000414099.2_Missense_Mutation_p.R1620L	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1638					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CTTGGCCCCTCGGATCAGTCT	0.592													8	158					0.00307968	0.0033064	1	1	0	A	38592950	C	A	38592950	3	1	192	1	0	0	0	0	1	0	0	0	13976	884	31	4	1141	4	SCN5A	3	38592950	Missense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	28821578	38592950	159429480	29	8895	45	2									
SCN5A	6331	broad.mit.edu	37	chr3	38592951	38592951	+	Silent	SNP	G	G	T																															gcggatccccttggcccctcGgatcagtctgaggatgcggc																										TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr3:38592951G>T	ENST00000413689.1	-	28	5105	c.4912C>A	c.(4912-4914)Cga>Aga	p.R1638R	SCN5A_ENST00000333535.4_Silent_p.R1638R|SCN5A_ENST00000425664.1_Silent_p.R1620R|SCN5A_ENST00000455624.2_Silent_p.R1605R|SCN5A_ENST00000443581.1_Silent_p.R1637R|SCN5A_ENST00000451551.2_Silent_p.R1584R|SCN5A_ENST00000450102.2_Silent_p.R1584R|SCN5A_ENST00000449557.2_Silent_p.R1584R|SCN5A_ENST00000423572.2_Silent_p.R1637R|SCN5A_ENST00000414099.2_Silent_p.R1620R	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1638					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TTGGCCCCTCGGATCAGTCTG	0.587													9	156					1.12685e-05	1.29736e-05	1	1	0	T	38592951	G	T	38592951	2	4	192	1	0	0	0	0	0	0	0	1	13976	1124	39	4		4	SCN5A	3	38592951	Silent	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	1	38592951	159429479	30	8896	45	2									
CADPS	8618	broad.mit.edu	37	chr3	62570916	62570916	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcaagtttgattttgagAtcttggtcggggcagttttt	8	16	12	5	1	1	2	0	2	1	1	2	3	1	2	0	3	1	4	0	3	1	6			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr3:62570916A>G	ENST00000383710.4	-	8	1870	c.1521T>C	c.(1519-1521)gaT>gaC	p.D507D	CADPS_ENST00000283269.9_Silent_p.D507D|CADPS_ENST00000357948.3_Silent_p.D507D	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	507					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TGATTTTGAGATCTTGGTCGG	0.468													6	119					0	0	1	0	0	G	62570916	A	G	62570916	2	3	192	1	0	0	0	0	0	0	0	1	2588	330	12	3		3	CADPS	3	62570916	Silent	SNP	A	TCGA-HC-8216-01A-11D-A29Q-08	23977965	62570916	135451514	31	8897											
EPHA3	2042	broad.mit.edu	37	chr3	89445000	89445000	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tttacagctccatcacctgtCctgacgattaagaaagatcg	12	11	7	11	2	1	3	1	1	0	2	4	4	3	3	3	0	2	1	3	0	3	3			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr3:89445000C>A	ENST00000336596.2	+	6	1545	c.1320C>A	c.(1318-1320)gtC>gtA	p.V440V	EPHA3_ENST00000494014.1_Silent_p.V440V|EPHA3_ENST00000452448.2_Silent_p.V440V	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	440	Fibronectin type-III 2.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CATCACCTGTCCTGACGATTA	0.463										TSP Lung(6;0.00050)			20	112					8.34094e-07	9.86259e-07	1	1	0	A	89445000	C	A	89445000	2	1	192	1	0	0	0	0	0	0	0	1	5196	842	30	4		4	EPHA3	3	89445000	Silent	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	26874084	89445000	108577430	32	8898											
MORC1	27136	broad.mit.edu	37	chr3	108754263	108754263	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttaaaggtttctccacatcGatgtcattctggtatccaaa	11	15	6	9	1	3	0	1	0	2	0	6	1	4	0	2	2	0	2	2	2	4	5			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr3:108754263G>A	ENST00000232603.5	-	15	1465	c.1383C>T	c.(1381-1383)atC>atT	p.I461I	MORC1_ENST00000483760.1_Silent_p.I461I	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	461					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TCTCCACATCGATGTCATTCT	0.289													6	22					0	0	1	0	0	A	108754263	G	A	108754263	2	1	192	1	0	0	0	0	0	0	0	1	9750	1048	37	1		1	MORC1	3	108754263	Silent	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	19309263	108754263	89268167	33	8899											
CD200R1	131450	broad.mit.edu	37	chr3	112648324	112648324	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcaacaaagcacagcatttGtagccatctttacaggccat	13	9	8	11	0	1	0	0	0	1	0	1	0	1	0	2	2	5	4	2	2	4	4			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr3:112648324G>T	ENST00000471858.1	-	3	396	c.164C>A	c.(163-165)aCa>aAa	p.T55K	CD200R1_ENST00000295863.4_Missense_Mutation_p.T33K|CD200R1_ENST00000308611.3_Missense_Mutation_p.T78K|CD200R1_ENST00000440122.2_Missense_Mutation_p.T78K|CD200R1_ENST00000490004.1_Missense_Mutation_p.T55K	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	55	Ig-like V-type.				interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						CACAGCATTTGTAGCCATCTT	0.383													4	93					0.000602214	0.000658672	1	1	0	T	112648324	G	T	112648324	3	4	192	1	0	0	0	0	1	0	0	0	3003	1377	48	4	880	4	CD200R1	3	112648324	Missense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	3894061	112648324	85374106	34	8900											
PLXNA1	5361	broad.mit.edu	37	chr3	126748316	126748316	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcggtggcactggtgcccAagcagacgtccgcctacaac	8	6	11	16	3	0	1	0	0	0	1	2	1	1	1	4	3	4	2	4	3	3	1			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr3:126748316A>G	ENST00000251772.4	+	26	4807	c.4738A>G	c.(4738-4740)Aag>Gag	p.K1580E	PLXNA1_ENST00000393409.2_Missense_Mutation_p.K1603E			Q9UIW2	PLXA1_HUMAN	plexin A1	1603					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		ACTGGTGCCCAAGCAGACGTC	0.667													11	178					0	0	1	0	0	G	126748316	A	G	126748316	3	3	192	1	0	0	0	0	1	0	0	0	12167	131	5	3	4909	3	PLXNA1	3	126748316	Missense_Mutation	SNP	A	TCGA-HC-8216-01A-11D-A29Q-08	14099992	126748316	71274114	35	8901											
ATP11B	23200	broad.mit.edu	37	chr3	182586927	182586927	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggagaatgagtgtaattgttCaggcaccttcaggtaaccaa	13	10	11	7	0	2	2	2	1	0	1	2	3	2	2	2	3	1	4	2	3	4	5			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr3:182586927C>T	ENST00000323116.5	+	16	2010	c.1750C>T	c.(1750-1752)Cag>Tag	p.Q584*		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	584					aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			TGTAATTGTTCAGGCACCTTC	0.299													3	29					0	0	1	0	0	T	182586927	C	T	182586927	4	4	192	1	0	0	0	0	0	1	0	0	1119	827	29	2	1812	2	ATP11B	3	182586927	Nonsense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	55838611	182586927	15435503	36	8902											
ATP11B	23200	broad.mit.edu	37	chr3	182587059	182587059	+	Silent	SNP	C	C	T																															ggagctgagtcatcaattctCcctaaatgtataggtggaga																										TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr3:182587059C>T	ENST00000323116.5	+	17	2066	c.1806C>T	c.(1804-1806)ctC>ctT	p.L602L		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	602					aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			CATCAATTCTCCCTAAATGTA	0.284													4	20					0	0	1	0	0	T	182587059	C	T	182587059	2	4	192	1	0	0	0	0	0	0	0	1	1119	842	30	2		2	ATP11B	3	182587059	Silent	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	132	182587059	15435371	37	8903	46	2									
ATP11B	23200	broad.mit.edu	37	chr3	182587060	182587060	+	Missense_Mutation	SNP	C	C	T																															gagctgagtcatcaattctcCctaaatgtataggtggagaa																										TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr3:182587060C>T	ENST00000323116.5	+	17	2067	c.1807C>T	c.(1807-1809)Cct>Tct	p.P603S		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	603					aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			ATCAATTCTCCCTAAATGTAT	0.284													4	21					0	0	1	0	0	T	182587060	C	T	182587060	3	4	192	1	0	0	0	0	1	0	0	0	1119	623	22	2	1873	2	ATP11B	3	182587060	Missense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	1	182587060	15435370	38	8904	46	2									
ABCC5	10057	broad.mit.edu	37	chr3	183669276	183669276	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgagaatcctccctgtggggGtcgtgtcaaaaaacttcata	11	11	10	9	1	2	1	2	1	0	1	5	2	4	1	2	2	1	0	2	2	5	2			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr3:183669276G>A	ENST00000334444.6	-	20	3137	c.2897C>T	c.(2896-2898)aCc>aTc	p.T966I	ABCC5_ENST00000265586.6_Missense_Mutation_p.T966I	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	966	ABC transmembrane type-1 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CCCTGTGGGGGTCGTGTCAAA	0.512													5	93					0	0	1	0	0	A	183669276	G	A	183669276	3	1	192	1	0	0	0	0	1	0	0	0	56	1261	44	2	1460	2	ABCC5	3	183669276	Missense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	1082216	183669276	14353154	39	8905											
UGT2B11	10720	broad.mit.edu	37	chr4	70074167	70074167	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaaaacaccacaacaccatTttctccagagctctgtacaa	16	8	4	13	0	2	2	0	0	2	2	3	2	2	2	3	0	4	2	3	0	5	3			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr4:70074167T>A	ENST00000446444.1	-	3	912	c.904A>T	c.(904-906)Aat>Tat	p.N302Y	RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	302					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						ACAACACCATTTTCTCCAGAG	0.423													12	177					0	0	1	0	0	A	70074167	T	A	70074167	3	1	192	1	0	0	0	0	1	0	0	0	17017	1841	64	5	701	5	UGT2B11	4	70074167	Missense_Mutation	SNP	T	TCGA-HC-8216-01A-11D-A29Q-08		70074167	121080109	40	8906											
ZFP42	132625	broad.mit.edu	37	chr4	188924707	188924707	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaagccgtttcggtgcacttTtgaagggtgcggaaagcgct	8	10	15	8	4	0	1	0	1	0	0	1	3	0	2	1	3	4	3	1	3	3	3			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr4:188924707T>G	ENST00000326866.4	+	4	1154	c.746T>G	c.(745-747)tTt>tGt	p.F249C	ZFP42_ENST00000509524.1_Missense_Mutation_p.F249C	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	249					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		CGGTGCACTTTTGAAGGGTGC	0.517													13	59					0	0	1	0	0	G	188924707	T	G	188924707	3	3	192	1	0	0	0	0	1	0	0	0	17708	1841	64	5	748	5	ZFP42	4	188924707	Missense_Mutation	SNP	T	TCGA-HC-8216-01A-11D-A29Q-08	118850540	188924707	2229569	41	8907											
AHRR	57491	broad.mit.edu	37	chr5	427996	427996	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtcaggagccatgctcccGccgcggctgtcgctgttctg	3	9	13	16	5	2	0	1	0	1	0	4	1	3	1	4	2	2	4	4	2	0	1			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr5:427996G>A	ENST00000316418.5	+	9	893	c.849G>A	c.(847-849)ccG>ccA	p.P283P	AHRR_ENST00000512529.1_Silent_p.P111P|AHRR_ENST00000505113.1_Silent_p.P265P|AHRR_ENST00000506456.1_Silent_p.P121P	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	265					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			CCATGCTCCCGCCGCGGCTGT	0.557													14	36					0	0	1	0	0	A	427996	G	A	427996	2	1	192	1	0	0	0	0	0	0	0	1	414	1074	38	1		1	AHRR	5	427996	Silent	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08		427996	180487264	42	8908											
GPR98	84059	broad.mit.edu	37	chr5	89933655	89933655	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccggatgatataggccccttTaatggctctgttttgttttt	6	18	9	8	1	1	1	0	1	1	0	1	2	1	2	3	3	0	3	3	3	3	8			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr5:89933655T>C	ENST00000405460.2	+	11	2226	c.2130T>C	c.(2128-2130)ttT>ttC	p.F710F		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	710	Calx-beta 5.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TAGGCCCCTTTAATGGCTCTG	0.423													4	41					0	0	1	0	0	C	89933655	T	C	89933655	2	2	192	1	0	0	0	0	0	0	0	1	6762	1751	61	3		3	GPR98	5	89933655	Silent	SNP	T	TCGA-HC-8216-01A-11D-A29Q-08	89505659	89933655	90981605	43	8909											
IL9	3578	broad.mit.edu	37	chr5	135228145	135228145	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttccagaagactcttcagaaAtgtcagcgcgttgcctgccg	9	10	10	12	3	3	3	2	0	1	3	4	3	4	3	3	0	3	1	3	0	2	3			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr5:135228145A>G	ENST00000274520.1	-	5	380	c.370T>C	c.(370-372)Ttt>Ctt	p.F124L		NM_000590.1	NP_000581.1	P15248	IL9_HUMAN	interleukin 9	124					immune response|inflammatory response|positive regulation of cell proliferation|positive regulation of interleukin-5 biosynthetic process	extracellular space	cytokine activity|cytokine receptor binding|growth factor activity			large_intestine(3)|lung(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTCTTCAGAAATGTCAGCGCG	0.378													7	47					0	0	1	0	0	G	135228145	A	G	135228145	3	3	192	1	0	0	0	0	1	0	0	0	7751	101	4	3	68	3	IL9	5	135228145	Missense_Mutation	SNP	A	TCGA-HC-8216-01A-11D-A29Q-08	45294490	135228145	45687115	44	8910											
EGR1	1958	broad.mit.edu	37	chr5	137803632	137803632	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccccgtcggtggccaccacGtactcctctgttccccctgc	3	10	8	20	3	1	0	0	0	1	0	5	0	4	0	7	2	2	2	7	2	1	2			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr5:137803632G>A	ENST00000239938.4	+	2	1766	c.1494G>A	c.(1492-1494)acG>acA	p.T498T		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	498					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TGGCCACCACGTACTCCTCTG	0.637													18	226					0	0	1	0	0	A	137803632	G	A	137803632	2	1	192	1	0	0	0	0	0	0	0	1	4997	1132	40	1		1	EGR1	5	137803632	Silent	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	2575487	137803632	43111628	45	8911											
KCTD16	57528	broad.mit.edu	37	chr5	143587109	143587109	+	Splice_Site	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acactgaatatgtcttctacCgtaagtacaaagggttgttt	12	14	8	7	1	2	1	0	1	2	0	2	1	2	1	1	1	2	4	1	1	6	7			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr5:143587109C>G	ENST00000507359.2	+	2	1923	c.832_splice	c.e2+1	p.R278_splice	KCTD16_ENST00000512467.1_Splice_Site_p.R278_splice	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	278						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			TGTCTTCTACCGTAAGTACAA	0.393													5	65					0	0	1	0	0	G	143587109	C	G	143587109	5	3	192	1	0	0	0	0	0	0	1	0	8147	666	23	4	834	4	KCTD16	5	143587109	Splice_Site	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	5783477	143587109	37328151	46	8912											
DOCK2	1794	broad.mit.edu	37	chr5	169507217	169507217	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accaacctctcggagcatgcGgccatccccctcaaggcgtc	8	6	9	18	3	2	0	1	0	1	0	5	1	3	1	5	3	3	1	5	3	2	0	rs148811648	by1000genomes	TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr5:169507217G>A	ENST00000256935.8	+	50	5297	c.5217G>A	c.(5215-5217)gcG>gcA	p.A1739A	DOCK2_ENST00000520908.1_Silent_p.A1231A|DOCK2_ENST00000540750.1_Silent_p.A800A|DOCK2_ENST00000523351.1_3'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1739					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CGGAGCATGCGGCCATCCCCC	0.557													5	76					0	0	1	0	0	A	169507217	G	A	169507217	2	1	192	1	0	0	0	0	0	0	0	1	4714	1103	39	1		1	DOCK2	5	169507217	Silent	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	25920108	169507217	11408043	47	8913											
CD83	9308	broad.mit.edu	37	chr6	14131886	14131886	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attccctgaagatccgaaacActaccagctgcaactcgggg	12	7	9	13	2	0	2	0	1	0	1	3	3	2	2	3	2	5	2	3	2	4	2			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr6:14131886A>C	ENST00000379153.3	+	3	460	c.289A>C	c.(289-291)Act>Cct	p.T97P		NM_001040280.1|NM_001251901.1|NM_004233.3	NP_001035370.1|NP_001238830.1|NP_004224.1	Q01151	CD83_HUMAN	CD83 molecule	97	Ig-like V-type.				defense response|humoral immune response|signal transduction	integral to plasma membrane				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	12	Breast(50;0.00245)|Ovarian(93;0.137)	all_hematologic(90;0.117)				GATCCGAAACACTACCAGCTG	0.542													7	122					0	0	1	0	0	C	14131886	A	C	14131886	3	2	192	1	0	0	0	0	1	0	0	0	3063	159	6	5	299	5	CD83	6	14131886	Missense_Mutation	SNP	A	TCGA-HC-8216-01A-11D-A29Q-08		14131886	156983181	48	8914											
ALDH5A1	7915	broad.mit.edu	37	chr6	24503566	24503566	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggttctctgaggaagccCgccgtgtttacggagacatt	8	11	13	9	3	1	2	0	1	1	1	2	4	1	3	2	3	2	2	2	3	2	4			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr6:24503566C>T	ENST00000357578.3	+	3	659	c.514C>T	c.(514-516)Cgc>Tgc	p.R172C	ALDH5A1_ENST00000491546.1_Missense_Mutation_p.R144C|ALDH5A1_ENST00000546278.1_Missense_Mutation_p.R84C|ALDH5A1_ENST00000348925.2_Missense_Mutation_p.R172C	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5 family, member A1	172					acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)	TGAGGAAGCCCGCCGTGTTTA	0.537													7	47					0	0	1	0	0	T	24503566	C	T	24503566	3	4	192	1	0	0	0	0	1	0	0	0	499	652	23	1	524	1	ALDH5A1	6	24503566	Missense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	10371680	24503566	146611501	49	8915											
HIST1H2BE	8344	broad.mit.edu	37	chr6	26184078	26184078	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagggctccaagaaggccGtgaccaaggcgcagaagaag	15	2	15	9	2	0	5	0	1	0	4	1	5	1	5	3	3	0	2	3	3	6	0			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr6:26184078G>A	ENST00000356530.3	+	1	121	c.55G>A	c.(55-57)Gtg>Atg	p.V19M		NM_003523.2	NP_003514.2	P62807	H2B1C_HUMAN	histone cluster 1, H2be	19					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			endometrium(1)|large_intestine(2)|lung(1)	4						CAAGAAGGCCGTGACCAAGGC	0.547													4	150					0	0	1	0	0	A	26184078	G	A	26184078	3	1	192	1	0	0	0	0	1	0	0	0	7185	1145	40	1	57	1	HIST1H2BE	6	26184078	Missense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	1680512	26184078	144930989	50	8916											
ZBTB9	221504	broad.mit.edu	37	chr6	33423613	33423613	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtatcaggggtttttcccCgtcctcatggaccccaccca	7	10	9	15	1	2	0	2	0	0	0	4	2	4	1	6	3	0	2	6	3	1	3			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr6:33423613C>T	ENST00000395064.2	+	2	1004	c.736C>T	c.(736-738)Cgt>Tgt	p.R246C		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	246	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						GGTTTTTCCCCGTCCTCATGG	0.582													12	60					0	0	1	0	0	T	33423613	C	T	33423613	3	4	192	1	0	0	0	0	1	0	0	0	17617	652	23	1	738	1	ZBTB9	6	33423613	Missense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	7239535	33423613	137691454	51	8917											
ANKS1A	23294	broad.mit.edu	37	chr6	34985688	34985688	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctgaactcaaactcagccGcagcttgtccaagtctgact	11	9	8	13	1	3	2	2	2	1	0	4	2	4	2	2	0	5	3	2	0	3	1			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr6:34985688G>A	ENST00000360359.3	+	11	2000	c.1862G>A	c.(1861-1863)cGc>cAc	p.R621H	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	621						cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						AAACTCAGCCGCAGCTTGTCC	0.597													5	260					0	0	1	0	0	A	34985688	G	A	34985688	3	1	192	1	0	0	0	0	1	0	0	0	682	1087	38	1	1904	1	ANKS1A	6	34985688	Missense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	1562075	34985688	136129379	52	8918											
COL19A1	1310	broad.mit.edu	37	chr6	70639416	70639416	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttagaaatcgagaactcCgtcctttgtttgatcgtcag	9	16	8	8	3	1	3	1	1	0	2	5	4	3	3	2	0	1	1	2	0	3	5			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr6:70639416C>T	ENST00000322773.4	+	6	592	c.490C>T	c.(490-492)Cgt>Tgt	p.R164C		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	164	TSP N-terminal.				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TCGAGAACTCCGTCCTTTGTT	0.393													6	52					0	0	1	0	0	T	70639416	C	T	70639416	3	4	192	1	0	0	0	0	1	0	0	0	3699	652	23	1	508	1	COL19A1	6	70639416	Missense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	35653728	70639416	100475651	53	8919											
TBX18	9096	broad.mit.edu	37	chr6	85446703	85446703	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgatgggtctggttagtggcGaaggcattgctggagggtga	7	11	19	4	1	1	2	0	2	1	0	1	4	1	3	0	6	1	3	0	6	2	2	rs114400107	by1000genomes	TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr6:85446703G>A	ENST00000369663.5	-	8	1861	c.1524C>T	c.(1522-1524)ttC>ttT	p.F508F	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	508					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.F508F(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		GGTTAGTGGCGAAGGCATTGC	0.507													16	196					0	0	1	0	0	A	85446703	G	A	85446703	2	1	192	1	0	0	0	0	0	0	0	1	15713	1049	37	1		1	TBX18	6	85446703	Silent	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	14807287	85446703	85668364	54	8920											
BACH2	60468	broad.mit.edu	37	chr6	90661075	90661075	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatgtgcttgcaaaacctgaGgtactgtgtgatgatgcatt	11	13	11	6	0	0	3	0	3	0	0	0	3	0	3	1	1	5	4	1	1	4	3			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr6:90661075G>A	ENST00000257749.4	-	7	1457	c.750C>T	c.(748-750)acC>acT	p.T250T	RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000343122.3_Silent_p.T250T|BACH2_ENST00000537989.1_Silent_p.T250T|RP3-512E2.2_ENST00000445838.1_RNA	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	250						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		CAAAACCTGAGGTACTGTGTG	0.493													4	119					0	0	1	0	0	A	90661075	G	A	90661075	2	1	192	1	0	0	0	0	0	0	0	1	1282	987	35	2		2	BACH2	6	90661075	Silent	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	5214372	90661075	80453992	55	8921											
SOBP	55084	broad.mit.edu	37	chr6	107827592	107827592	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggcagtgtgcccattattGtacctttaattccaccacct	9	14	6	12	0	0	0	0	0	0	0	1	0	1	0	5	1	2	2	5	1	3	6			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr6:107827592G>A	ENST00000317357.5	+	3	1041	c.382G>A	c.(382-384)Gta>Ata	p.V128I		NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog (Drosophila)	128							metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		GCCCATTATTGTACCTTTAAT	0.423													17	162					0	0	1	0	0	A	107827592	G	A	107827592	3	1	192	1	0	0	0	0	1	0	0	0	14966	1377	48	2	392	2	SOBP	6	107827592	Missense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	17166517	107827592	63287475	56	8922											
ARMC2	84071	broad.mit.edu	37	chr6	109274248	109274248	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tattgcaggatttagtcgtcCgtgttgtttttattcttggc	5	20	10	6	2	1	0	0	0	1	0	3	1	2	1	1	2	1	3	1	2	3	10			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr6:109274248C>T	ENST00000392644.4	+	13	1777	c.1609C>T	c.(1609-1611)Cgt>Tgt	p.R537C	ARMC2_ENST00000368972.3_Missense_Mutation_p.R372C	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	537							binding			endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		TTTAGTCGTCCGTGTTGTTTT	0.398													4	13					0	0	1	0	0	T	109274248	C	T	109274248	3	4	192	1	0	0	0	0	1	0	0	0	950	652	23	1	1655	1	ARMC2	6	109274248	Missense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	1446656	109274248	61840819	57	8923											
ROS1	6098	broad.mit.edu	37	chr6	117662661	117662661	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagaggagtttcaggaattaGggccaggtgtgagattgcca	11	10	15	5	0	1	2	1	1	0	2	1	5	1	4	2	4	1	1	2	4	3	4			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr6:117662661G>A	ENST00000368508.3	-	29	5002	c.4804C>T	c.(4804-4806)Cta>Tta	p.L1602L	ROS1_ENST00000368507.3_Silent_p.L1596L|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1602	Fibronectin type-III 7.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TCAGGAATTAGGGCCAGGTGT	0.428			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								5	91					0	0	1	0	0	A	117662661	G	A	117662661	2	1	192	1	0	0	0	0	0	0	0	1	13583	991	35	2		2	ROS1	6	117662661	Silent	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	8388413	117662661	53452406	58	8924											
GPR126	0	broad.mit.edu	37	chr6	142691627	142691627	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctttgaacagctctgccttGtttggaataattctttgggc	7	16	10	8	0	2	1	0	1	2	0	2	2	2	2	1	2	3	3	1	2	3	6			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr6:142691627G>T	ENST00000230173.6	+	4	1242	c.766G>T	c.(766-768)Gtt>Ttt	p.V256F	GPR126_ENST00000296932.8_Missense_Mutation_p.V256F|GPR126_ENST00000545477.1_Intron|GPR126_ENST00000367609.3_Missense_Mutation_p.V256F|GPR126_ENST00000367608.2_Missense_Mutation_p.V256F	NM_020455.5	NP_065188.4	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	256	Pentaxin.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.V256F(1)|p.V255F(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		GCTCTGCCTTGTTTGGAATAA	0.333													5	59					0.000602214	0.000658672	1	1	0	T	142691627	G	T	142691627	3	4	192	1	0	0	0	0	1	0	0	0	6680	1377	48	4	780	4	GPR126	6	142691627	Missense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	25028966	142691627	28423440	59	8925											
MTHFD1L	25902	broad.mit.edu	37	chr6	151243383	151243383	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatggcttcgtgaacagcagCacaggcggtggagacttcac	10	7	14	10	2	1	2	1	1	0	1	2	4	1	2	0	4	3	3	0	4	1	2			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr6:151243383C>T	ENST00000367321.3	+	10	1301	c.1027C>T	c.(1027-1029)Cac>Tac	p.H343Y		NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	343	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		TGAACAGCAGCACAGGCGGTG	0.493													25	61					0	0	1	0	0	T	151243383	C	T	151243383	3	4	192	1	0	0	0	0	1	0	0	0	9976	710	25	2	1065	2	MTHFD1L	6	151243383	Missense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	8551756	151243383	19871684	60	8926											
SEMA3E	9723	broad.mit.edu	37	chr7	83037758	83037758	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcggaagatcgcagcgTctctgctccagtagtcactg	7	10	12	12	3	2	1	1	0	1	1	5	2	3	2	1	1	4	4	1	1	2	1			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr7:83037758T>C	ENST00000307792.3	-	6	1063	c.596A>G	c.(595-597)gAc>gGc	p.D199G	SEMA3E_ENST00000427262.1_Missense_Mutation_p.D139G	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	199	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				GATCGCAGCGTCTCTGCTCCA	0.458													12	21					0	0	1	0	0	C	83037758	T	C	83037758	3	2	192	1	0	0	0	0	1	0	0	0	14082	1667	58	3	1779	3	SEMA3E	7	83037758	Missense_Mutation	SNP	T	TCGA-HC-8216-01A-11D-A29Q-08		83037758	76100905	61	8927											
OCM2	4951	broad.mit.edu	37	chr7	97614280	97614280	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggggcttttaagaatgcAccatttcctggaattctaga	11	13	9	8	0	1	2	0	0	1	2	2	3	2	3	2	3	1	2	2	3	4	5			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr7:97614280A>G	ENST00000257627.4	-	4	411	c.320T>C	c.(319-321)gTg>gCg	p.V107A		NM_006188.3	NP_006179.2	P0CE71	OCM2_HUMAN	oncomodulin 2	107	EF-hand 2.						calcium ion binding			lung(4)	4						TTAAGAATGCACCATTTCCTG	0.498													15	20					0	0	1	0	0	G	97614280	A	G	97614280	3	3	192	1	0	0	0	0	1	0	0	0	10870	159	6	3	13	3	OCM2	7	97614280	Missense_Mutation	SNP	A	TCGA-HC-8216-01A-11D-A29Q-08	14576522	97614280	61524383	62	8928											
LRRN3	54674	broad.mit.edu	37	chr7	110763905	110763905	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	accattgagtctctgccaaaCctcaaggaaatcagcataca	15	8	6	12	0	3	1	2	1	1	0	4	2	3	2	3	1	4	1	3	1	4	2			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr7:110763905C>G	ENST00000451085.1	+	4	2123	c.1077C>G	c.(1075-1077)aaC>aaG	p.N359K	IMMP2L_ENST00000437687.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.N359K|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000447215.1_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.N359K	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	359						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		CTCTGCCAAACCTCAAGGAAA	0.468													4	68					0	0	1	0	0	G	110763905	C	G	110763905	3	3	192	1	0	0	0	0	1	0	0	0	9081	506	18	4	1079	4	LRRN3	7	110763905	Missense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	13149625	110763905	48374758	63	8929											
ANK1	286	broad.mit.edu	37	chr8	41529908	41529908	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccgtcacctgactcacggtgGgggaatgtgtgattcgggct	6	10	15	10	3	2	2	2	2	0	0	3	3	2	3	2	4	0	1	2	4	1	1			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr8:41529908G>A	ENST00000396942.1	-	38	5143	c.5060C>T	c.(5059-5061)cCc>cTc	p.P1687L	ANK1_ENST00000379758.2_Missense_Mutation_p.P1687L|ANK1_ENST00000347528.4_Missense_Mutation_p.P1687L|ANK1_ENST00000352337.4_Missense_Mutation_p.P1687L|ANK1_ENST00000289734.7_Missense_Mutation_p.P1687L|ANK1_ENST00000396945.1_Missense_Mutation_p.P1687L|ANK1_ENST00000265709.8_Missense_Mutation_p.P1728L			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1687	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			ACTCACGGTGGGGGAATGTGT	0.557													8	96					0	0	1	0	0	A	41529908	G	A	41529908	3	1	192	1	0	0	0	0	1	0	0	0	616	1232	43	2	931	2	ANK1	8	41529908	Missense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08		41529908	104834114	64	8930											
PLAT	5327	broad.mit.edu	37	chr8	42038168	42038168	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagccctcctttgatgcgaaActgaggctggctgtactgtc	7	11	12	11	1	0	2	0	2	0	0	2	4	1	2	2	2	4	3	2	2	2	2			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr8:42038168A>T	ENST00000220809.4	-	10	1181	c.925T>A	c.(925-927)Ttt>Att	p.F309I	PLAT_ENST00000519510.1_Missense_Mutation_p.F246I|PLAT_ENST00000429710.2_Missense_Mutation_p.F183I|PLAT_ENST00000429089.2_Missense_Mutation_p.F309I|PLAT_ENST00000524009.1_Missense_Mutation_p.F220I|PLAT_ENST00000270189.6_Intron|PLAT_ENST00000352041.3_Missense_Mutation_p.F263I	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	309					blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TTGATGCGAAACTGAGGCTGG	0.632													6	58					0	0	1	0	0	T	42038168	A	T	42038168	3	4	192	1	0	0	0	0	1	0	0	0	12069	43	2	5	783	5	PLAT	8	42038168	Missense_Mutation	SNP	A	TCGA-HC-8216-01A-11D-A29Q-08	508260	42038168	104325854	65	8931											
HOOK3	84376	broad.mit.edu	37	chr8	42865543	42865544	+	Frame_Shift_Del	DEL	AA	AA	-																															aaaaatacttagagaaagccAaaagtgtaagtatgaatttt																										TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr8:42865543_42865544delAA	ENST00000307602.4	+	19	2034_2035	c.1834_1835delAA	c.(1834-1836)afs	p.K612fs	HOOK3_ENST00000524839.1_3'UTR	NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	612	Required for association with Golgi.|Required for interaction with MSR1.				cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			AGAGAAAGCCAAAAGTGTAAGT	0.342			T	RET	papillary thyroid								2	4	---	---	---	---						-	42865544	AA	-	42865543	7	5	192	1	0	1	0	1	0	0	0	0	7325	131	5	0	1908	0	HOOK3	8	42865543	Frame_Shift_Del	DEL	AA	TCGA-HC-8216-01A-11D-A29Q-08	827375	42865543	103498479	66	8932											
CHD7	55636	broad.mit.edu	37	chr8	61654328	61654328	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acacccctcccgttcctcagGtgccccatggtggcagtggt	5	9	11	16	1	1	0	1	0	0	0	3	0	3	0	6	4	1	2	6	4	0	1			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr8:61654328G>C	ENST00000423902.2	+	2	816	c.337G>C	c.(337-339)Gtg>Ctg	p.V113L	CHD7_ENST00000524602.1_Missense_Mutation_p.V113L|CHD7_ENST00000525508.1_Missense_Mutation_p.V113L	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	113					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CGTTCCTCAGGTGCCCCATGG	0.592													7	34					0	0	1	0	0	C	61654328	G	C	61654328	3	2	192	1	0	0	0	0	1	0	0	0	3352	1261	44	4	339	4	CHD7	8	61654328	Missense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	18788785	61654328	84709694	67	8933											
RUNX1T1	862	broad.mit.edu	37	chr8	92999165	92999165	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctctgtctgttagtctgtGatcaatcatttcttcttgac	6	20	6	9	0	7	2	2	2	5	0	8	2	7	2	0	0	0	1	0	0	2	5			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr8:92999165G>C	ENST00000523629.1	-	8	1481	c.1027C>G	c.(1027-1029)Cac>Gac	p.H343D	RUNX1T1_ENST00000360348.2_Missense_Mutation_p.H306D|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.H343D|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.H306D|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.H316D|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.H306D|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.H354D|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.H316D	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	343	Important for oligomerization.				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.H306N(1)|p.H354N(1)|p.H343N(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GTTAGTCTGTGATCAATCATT	0.388													8	171					0	0	1	0	0	C	92999165	G	C	92999165	3	2	192	1	0	0	0	0	1	0	0	0	13799	1290	45	4	807	4	RUNX1T1	8	92999165	Missense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	31344837	92999165	53364857	68	8934											
TMEM71	137835	broad.mit.edu	37	chr8	133740185	133740185	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagactctgcattcatctTccctgactcccagtcatcag	9	11	5	16	0	5	2	3	1	2	1	7	2	7	2	2	0	1	1	2	0	0	2			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr8:133740185T>C	ENST00000356838.3	-	6	620	c.478A>G	c.(478-480)Aag>Gag	p.K160E	TMEM71_ENST00000377901.4_Intron|TMEM71_ENST00000523829.1_Missense_Mutation_p.K179E	NM_144649.2	NP_653250.2	Q6P5X7	TMM71_HUMAN	transmembrane protein 71	179						integral to membrane				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GCATTCATCTTCCCTGACTCC	0.488													8	109					0	0	1	0	0	C	133740185	T	C	133740185	3	2	192	1	0	0	0	0	1	0	0	0	16260	1792	62	3	372	3	TMEM71	8	133740185	Missense_Mutation	SNP	T	TCGA-HC-8216-01A-11D-A29Q-08	40741020	133740185	12623837	69	8935											
ST3GAL1	6482	broad.mit.edu	37	chr8	134488181	134488181	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtggtggccaccatggtgtgGgagtagttcaggaagaagga	10	8	18	5	0	1	1	1	0	0	1	1	4	1	4	2	6	0	2	2	6	3	2			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr8:134488181G>C	ENST00000319914.5	-	4	1114	c.87C>G	c.(85-87)tcC>tcG	p.S29S	ST3GAL1_ENST00000521180.1_Silent_p.S29S|ST3GAL1_ENST00000522652.1_Silent_p.S29S|ST3GAL1_ENST00000399640.2_Silent_p.S29S			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	29					protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			CCATGGTGTGGGAGTAGTTCA	0.572													4	125					0	0	1	0	0	C	134488181	G	C	134488181	2	2	192	1	0	0	0	0	0	0	0	1	15270	1219	43	4		4	ST3GAL1	8	134488181	Silent	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	747996	134488181	11875841	70	8936											
ARC	23237	broad.mit.edu	37	chr8	143694473	143694473	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gggtccggtcactggccacgGactcgctgttgggggcgggc	3	7	19	12	4	1	0	1	0	0	0	3	1	2	1	2	7	0	2	2	7	0	1			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr8:143694473G>A	ENST00000356613.2	-	1	2360	c.1160C>T	c.(1159-1161)tCc>tTc	p.S387F		NM_015193.3	NP_056008.1	Q7LC44	ARC_HUMAN	activity-regulated cytoskeleton-associated protein	387					endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				ACTGGCCACGGACTCGCTGTT	0.701													6	24					0	0	1	0	0	A	143694473	G	A	143694473	3	1	192	1	0	0	0	0	1	0	0	0	838	1174	41	2	34	2	ARC	8	143694473	Missense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	9206292	143694473	2669549	71	8937											
GLDC	2731	broad.mit.edu	37	chr9	6554725	6554725	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggaatgcagaaggtcttGtgaagatttaggtgcgagac	11	10	16	4	1	1	4	0	1	1	3	1	6	1	5	0	4	2	1	0	4	4	3			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr9:6554725G>T	ENST00000321612.6	-	19	2409	c.2259C>A	c.(2257-2259)caC>caA	p.H753Q		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	753					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	AGAAGGTCTTGTGAAGATTTA	0.542													3	23					0.00909568	0.0094186	1	1	0	T	6554725	G	T	6554725	3	4	192	1	0	0	0	0	1	0	0	0	6475	1368	48	4	831	4	GLDC	9	6554725	Missense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08		6554725	134658706	72	8938											
TRPM6	140803	broad.mit.edu	37	chr9	77390917	77390917	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggcagccagggcttctcgtgGtaggtcatgatgtagcgata	8	10	15	8	2	2	1	1	1	1	0	3	2	2	1	1	4	2	4	1	4	3	4			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr9:77390917G>T	ENST00000451710.3	-	24	3522	c.3285C>A	c.(3283-3285)taC>taA	p.Y1095*	TRPM6_ENST00000361255.3_Nonsense_Mutation_p.Y1090*|TRPM6_ENST00000449912.2_Nonsense_Mutation_p.Y1090*|TRPM6_ENST00000376864.4_Nonsense_Mutation_p.Y1095*|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000360774.1_Nonsense_Mutation_p.Y1095*			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1095					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GCTTCTCGTGGTAGGTCATGA	0.522													6	113					0.00116845	0.00127005	1	1	0	T	77390917	G	T	77390917	4	4	192	1	0	0	0	0	0	1	0	0	16651	1256	44	4	2847	4	TRPM6	9	77390917	Nonsense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	70836192	77390917	63822514	73	8939											
OR13C5	138799	broad.mit.edu	37	chr9	107361057	107361057	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acgtgtaagagacaataattAataacaaaggtgtcaatagg	19	9	9	4	1	1	1	1	0	0	1	1	2	1	1	0	2	1	1	0	2	8	5			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr9:107361057A>T	ENST00000374779.2	-	1	731	c.638T>A	c.(637-639)tTa>tAa	p.L213*		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						GACAATAATTAATAACAAAGG	0.423													8	176					0	0	1	0	0	T	107361057	A	T	107361057	4	4	192	1	0	0	0	0	0	1	0	0	10985	372	13	5	320	5	OR13C5	9	107361057	Nonsense_Mutation	SNP	A	TCGA-HC-8216-01A-11D-A29Q-08	29970140	107361057	33852374	74	8940											
CELF2	10659	broad.mit.edu	37	chr10	11317020	11317020	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttgtgtgttcatccgcagCtcctgcagcaggccacctcc	5	10	9	17	1	1	0	1	0	0	0	4	0	4	0	6	1	3	5	6	1	0	2			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr10:11317020C>A	ENST00000379261.4	+	8	849	c.756_splice	c.e8-1	p.L253_splice	CELF2_ENST00000417956.2_Splice_Site_p.L229_splice|CELF2_ENST00000416382.2_Splice_Site_p.L253_splice|CELF2_ENST00000354440.2_Splice_Site_p.L229_splice|CELF2_ENST00000450189.1_Splice_Site_p.L260_splice|CELF2_ENST00000354897.3_Splice_Site_p.L229_splice|CELF2_ENST00000542579.1_Splice_Site_p.L260_splice|CELF2_ENST00000427450.1_Splice_Site_p.L229_splice|CELF2_ENST00000537122.1_Splice_Site_p.L142_splice|CELF2_ENST00000399850.3_Splice_Site_p.L229_splice|CELF2_ENST00000315874.3_Splice_Site_p.L229_splice	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	253	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						TCATCCGCAGCTCCTGCAGCA	0.527													26	129					1.5548e-18	1.9435e-18	1	1	0	A	11317020	C	A	11317020	5	1	192	1	0	0	0	0	0	0	1	0	3238	811	28	4	865	4	CELF2	10	11317020	Splice_Site	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08		11317020	124217727	75	8941											
SGMS1	259230	broad.mit.edu	37	chr10	52103736	52103736	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggagactcggcacaagggggGttttttgaaatcctcttggg	8	11	15	7	1	1	2	0	1	1	1	3	3	2	2	1	6	0	2	1	6	2	4			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr10:52103736G>A	ENST00000361781.2	-	7	1098	c.139C>T	c.(139-141)Ccc>Tcc	p.P47S	SGMS1_ENST00000429490.1_Intron|SGMS1_ENST00000361543.2_Missense_Mutation_p.P47S	NM_147156.3	NP_671512.1	Q86VZ5	SMS1_HUMAN	sphingomyelin synthase 1	53	SAM.				apoptosis|cell growth|sphingomyelin biosynthetic process	endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity	p.P47T(1)		endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						CACAAGGGGGGTTTTTTGAAA	0.512													7	72					0	0	1	0	0	A	52103736	G	A	52103736	3	1	192	1	0	0	0	0	1	0	0	0	14268	1261	44	2	1122	2	SGMS1	10	52103736	Missense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	40786716	52103736	83431011	76	8942											
ADAMTS14	140766	broad.mit.edu	37	chr10	72511284	72511284	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcagcctggcctacaagtaCgtcatccatgaggacctgct	10	8	10	13	1	1	1	1	1	0	0	2	2	2	2	4	2	5	3	4	2	3	2			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr10:72511284C>T	ENST00000373208.1	+	17	2487	c.2487C>T	c.(2485-2487)taC>taT	p.Y829Y	ADAMTS14_ENST00000373207.1_Silent_p.Y826Y	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	826	Spacer.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CCTACAAGTACGTCATCCATG	0.627													5	124					0	0	1	0	0	T	72511284	C	T	72511284	2	4	192	1	0	0	0	0	0	0	0	1	258	547	19	1		1	ADAMTS14	10	72511284	Silent	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	20407548	72511284	63023463	77	8943											
TTC18	118491	broad.mit.edu	37	chr10	75029381	75029381	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taaacactcactttcaggcaGaccagagccagatatgccca	14	7	7	13	0	2	3	2	0	0	3	2	3	2	3	3	1	3	1	3	1	3	3			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr10:75029381G>A	ENST00000401621.2	-	26	3348	c.3228C>T	c.(3226-3228)gtC>gtT	p.V1076V	TTC18_ENST00000493787.1_Intron|TTC18_ENST00000355577.3_Silent_p.V545V|TTC18_ENST00000340329.3_Silent_p.V316V|DNAJC9-AS1_ENST00000440197.2_RNA|TTC18_ENST00000310715.3_Silent_p.V1076V|TTC18_ENST00000394865.1_Silent_p.V1046V			Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	1076							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					CTTTCAGGCAGACCAGAGCCA	0.483													7	66					0	0	1	0	0	A	75029381	G	A	75029381	2	1	192	1	0	0	0	0	0	0	0	1	16747	929	33	2		2	TTC18	10	75029381	Silent	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	2518097	75029381	60505366	78	8944											
C10orf76	79591	broad.mit.edu	37	chr10	103649193	103649193	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctctgacagttgggatatGtgattcacagcagcgtagga	10	11	12	8	1	2	2	1	2	1	0	3	4	3	4	1	2	2	3	1	2	2	4			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr10:103649193G>A	ENST00000370033.4	-	24	1955	c.1836C>T	c.(1834-1836)caC>caT	p.H612H	C10orf76_ENST00000495001.1_5'UTR	NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	612						integral to membrane				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		GTTGGGATATGTGATTCACAG	0.473													5	325					0	0	1	0	0	A	103649193	G	A	103649193	2	1	192	1	0	0	0	0	0	0	0	1	1620	1368	48	2		2	C10orf76	10	103649193	Silent	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	28619812	103649193	31885554	79	8945											
SOX6	55553	broad.mit.edu	37	chr11	16071443	16071443	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttacaggctctgctgtcttGggtcgggatgagagattcag	7	13	14	7	1	3	2	1	1	2	1	4	4	3	3	0	3	2	2	0	3	1	4			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr11:16071443G>T	ENST00000352083.6	-	11	1370	c.1293C>A	c.(1291-1293)ccC>ccA	p.P431P	SOX6_ENST00000316399.6_Silent_p.P431P|SOX6_ENST00000396356.3_Silent_p.P431P|SOX6_ENST00000527619.1_Silent_p.P393P|SOX6_ENST00000528252.1_Silent_p.P390P|SOX6_ENST00000528429.1_Silent_p.P431P			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	431					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						CTGCTGTCTTGGGTCGGGATG	0.463													13	255					9.31168e-06	1.08636e-05	1	1	0	T	16071443	G	T	16071443	2	4	192	1	0	0	0	0	0	0	0	1	15009	1335	47	4		4	SOX6	11	16071443	Silent	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08		16071443	118935073	80	8946											
NAV2	89797	broad.mit.edu	37	chr11	20099637	20099637	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagtaattaacacacctgaGctcaactgcaaaggtaaagt	16	8	9	8	0	1	1	1	1	0	0	1	2	1	2	1	2	4	4	1	2	6	3			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr11:20099637G>T	ENST00000396085.1	+	24	5527	c.5166G>T	c.(5164-5166)gaG>gaT	p.E1722D	NAV2_ENST00000311043.8_Missense_Mutation_p.E786D|NAV2_ENST00000533917.1_Missense_Mutation_p.E786D|NAV2_ENST00000360655.4_Missense_Mutation_p.E1658D|NAV2_ENST00000540292.1_Missense_Mutation_p.E1709D|NAV2_ENST00000396087.3_Missense_Mutation_p.E1778D|NAV2_ENST00000349880.4_Missense_Mutation_p.E1722D|NAV2_ENST00000527559.2_Missense_Mutation_p.E1707D	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1778						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						ACACACCTGAGCTCAACTGCA	0.473													3	35					6.4e-05	7.17949e-05	1	1	0	T	20099637	G	T	20099637	3	4	192	1	0	0	0	0	1	0	0	0	10232	962	34	4	5369	4	NAV2	11	20099637	Missense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	4028194	20099637	114906879	81	8947											
SLC6A5	9152	broad.mit.edu	37	chr11	20622994	20622994	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcgcgcaggcctcgccccCtcccgggagctccgggcccg	3	3	15	20	6	0	0	0	0	0	0	3	1	2	1	6	4	1	2	6	4	0	0			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr11:20622994C>G	ENST00000525748.1	+	2	596	c.323C>G	c.(322-324)cCt>cGt	p.P108R		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	108					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	GCCTCGCCCCCTCCCGGGAGC	0.697													3	23					0	0	1	0	0	G	20622994	C	G	20622994	3	3	192	1	0	0	0	0	1	0	0	0	14742	681	24	4	329	4	SLC6A5	11	20622994	Missense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	523357	20622994	114383522	82	8948											
HIPK3	10114	broad.mit.edu	37	chr11	33370281	33370281	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaccatcattattgccgaCtccccgagtcctgcagtgag	10	9	8	14	2	1	1	1	1	0	0	3	3	3	1	5	0	3	1	5	0	2	2			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr11:33370281C>A	ENST00000303296.4	+	13	2888	c.2583C>A	c.(2581-2583)gaC>gaA	p.D861E	HIPK3_ENST00000379016.3_Missense_Mutation_p.D840E|HIPK3_ENST00000525975.1_Missense_Mutation_p.D840E|HIPK3_ENST00000456517.1_Missense_Mutation_p.D840E	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	861	Interaction with AR (By similarity).|Interaction with FAS (By similarity).|Required for localization to nuclear speckles (By similarity).				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						TTATTGCCGACTCCCCGAGTC	0.473													7	98					0.00307968	0.0033064	1	1	0	A	33370281	C	A	33370281	3	1	192	1	0	0	0	0	1	0	0	0	7159	564	20	4	2629	4	HIPK3	11	33370281	Missense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	12747287	33370281	101636235	83	8949											
OR10Q1	219960	broad.mit.edu	37	chr11	57995624	57995624	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaaggagcaggtggagaaggCccggcggcggccctcggcag	8	2	20	11	4	0	1	0	0	0	1	1	4	0	2	2	8	1	2	2	8	2	0			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr11:57995624C>A	ENST00000316770.2	-	1	766	c.724G>T	c.(724-726)Gcc>Tcc	p.A242S		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				GTGGAGAAGGCCCGGCGGCGG	0.627													7	92					0.0381472	0.0388126	1	1	0	A	57995624	C	A	57995624	3	1	192	1	0	0	0	0	1	0	0	0	10964	739	26	4	239	4	OR10Q1	11	57995624	Missense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	24625343	57995624	77010892	84	8950											
AHNAK	79026	broad.mit.edu	37	chr11	62290041	62290041	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	caggttcacatccacttctgGaccttctcctttgaagccag	8	12	7	14	0	3	1	1	1	2	0	5	2	4	2	4	2	1	1	4	2	1	4			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr11:62290041G>A	ENST00000378024.4	-	5	12122	c.11848C>T	c.(11848-11850)Cca>Tca	p.P3950S	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3950					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCCACTTCTGGACCTTCTCCT	0.507													21	390					0	0	1	0	0	A	62290041	G	A	62290041	3	1	192	1	0	0	0	0	1	0	0	0	411	1174	41	2	5944	2	AHNAK	11	62290041	Missense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	4294417	62290041	72716475	85	8951											
KDM2A	22992	broad.mit.edu	37	chr11	66999361	66999361	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgtagataagttggagtCtctgccactgcacaagaaat	12	11	9	9	0	1	2	0	0	1	2	2	3	1	3	2	1	2	3	2	1	4	4			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr11:66999361C>A	ENST00000529006.2	+	12	1855	c.1409C>A	c.(1408-1410)tCt>tAt	p.S470Y	KDM2A_ENST00000398645.2_Missense_Mutation_p.S470Y|KDM2A_ENST00000526258.1_3'UTR	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	470					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						AAGTTGGAGTCTCTGCCACTG	0.488													28	182					1.17739e-12	1.4613e-12	1	1	0	A	66999361	C	A	66999361	3	1	192	1	0	0	0	0	1	0	0	0	8168	913	32	4	1451	4	KDM2A	11	66999361	Missense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	4709320	66999361	68007155	86	8952											
TECTA	7007	broad.mit.edu	37	chr11	120996041	120996041	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtgacttctttgcctgtcAccttagacttggggacagtg	7	14	11	9	0	2	2	1	1	1	1	2	3	2	3	2	2	1	0	2	2	2	5			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr11:120996041A>T	ENST00000392793.1	+	8	1505	c.1234A>T	c.(1234-1236)Acc>Tcc	p.T412S	TECTA_ENST00000264037.2_Missense_Mutation_p.T412S			O75443	TECTA_HUMAN	tectorin alpha	412	VWFD 1.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TTTGCCTGTCACCTTAGACTT	0.498													9	221					0	0	1	0	0	T	120996041	A	T	120996041	3	4	192	1	0	0	0	0	1	0	0	0	15806	159	6	5	1260	5	TECTA	11	120996041	Missense_Mutation	SNP	A	TCGA-HC-8216-01A-11D-A29Q-08	53996680	120996041	14010475	87	8953											
PRB3	5544	broad.mit.edu	37	chr12	11421037	11421037	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcctggaggaggtggggtaCgttggggctggtttcctcct	3	13	17	8	1	0	0	0	0	0	0	3	2	3	2	3	8	1	4	3	8	1	4			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr12:11421037C>T	ENST00000381842.3	-	0	183				PRB3_ENST00000440870.3_RNA|PRB3_ENST00000538488.1_RNA|PRB3_ENST00000279573.6_RNA	NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3							extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			AGGTGGGGTACGTTGGGGCTG	0.582													53	163					0	0	1	0	0	T	11421037	C	T	11421037	1	4	192	0	1	0	0	0	0	0	0	0	12496	536	19	1		1	PRB3	12	11421037	RNA	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08		11421037	122430858	88	8954											
ADAMTS20	80070	broad.mit.edu	37	chr12	43793008	43793008	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcaaaacacttcacggtacTttctacctttaccacaagaa	14	11	4	12	1	2	1	1	0	1	1	2	1	2	1	2	1	5	2	2	1	7	6			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr12:43793008T>A	ENST00000389420.3	-	29	4312	c.4313A>T	c.(4312-4314)aAg>aTg	p.K1438M		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1438	TSP type-1 11.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TTCACGGTACTTTCTACCTTT	0.348													3	1					0	0	1	0	0	A	43793008	T	A	43793008	3	1	192	1	0	0	0	0	1	0	0	0	265	1609	56	5	1462	5	ADAMTS20	12	43793008	Missense_Mutation	SNP	T	TCGA-HC-8216-01A-11D-A29Q-08	32371971	43793008	90058887	89	8955											
KRT75	9119	broad.mit.edu	37	chr12	52820636	52820636	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactccctctccactcaacCtgattgggaagagcagggag	12	7	10	12	0	2	2	1	1	1	1	4	4	3	4	3	2	3	1	3	2	3	1			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr12:52820636C>A	ENST00000252245.5	-	8	1603		c.e8-1		RP11-1020M18.10_ENST00000548135.1_RNA	NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75							keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		TCCACTCAACCTGATTGGGAA	0.463													7	52					0.0293803	0.0300676	1	1	0	A	52820636	C	A	52820636	5	1	192	1	0	0	0	0	0	0	1	0	8531	695	24	4	281	4	KRT75	12	52820636	Splice_Site	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	9027628	52820636	81031259	90	8956											
AMDHD1	144193	broad.mit.edu	37	chr12	96354372	96354372	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tacagattaacttccatgggGatgaactccacccgatgaag	13	9	9	10	1	0	3	0	2	0	1	2	5	2	4	3	2	3	0	3	2	4	3			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr12:96354372G>T	ENST00000266736.2	+	5	890	c.784G>T	c.(784-786)Gat>Tat	p.D262Y		NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	262					histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						CTTCCATGGGGATGAACTCCA	0.408													14	87					1.5739e-10	1.91272e-10	1	1	0	T	96354372	G	T	96354372	3	4	192	1	0	0	0	0	1	0	0	0	563	1174	41	4	802	4	AMDHD1	12	96354372	Missense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	43533736	96354372	37497523	91	8957											
GNPTAB	79158	broad.mit.edu	37	chr12	102151047	102151047	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catgagaaacgttggtacgaAtcattttaaaagcgatttct	14	13	8	6	3	2	1	1	1	1	1	2	4	2	1	0	1	3	2	0	1	5	5			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr12:102151047A>T	ENST00000299314.7	-	18	3639	c.3377T>A	c.(3376-3378)aTt>aAt	p.I1126N		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	1126					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						GTTGGTACGAATCATTTTAAA	0.274													4	37					0	0	1	0	0	T	102151047	A	T	102151047	3	4	192	1	0	0	0	0	1	0	0	0	6587	101	4	5	409	5	GNPTAB	12	102151047	Missense_Mutation	SNP	A	TCGA-HC-8216-01A-11D-A29Q-08	5796675	102151047	31700848	92	8958											
STAB2	55576	broad.mit.edu	37	chr12	104046416	104046416	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggtcagatgaacatcgaatAtatgaataacacagacatgt	17	10	8	6	1	1	4	1	2	0	2	2	5	1	4	0	1	2	0	0	1	6	3			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr12:104046416A>G	ENST00000388887.2	+	12	1544	c.1340A>G	c.(1339-1341)tAt>tGt	p.Y447C		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	447	FAS1 1.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AACATCGAATATATGAATAAC	0.403													9	29					0	0	1	0	0	G	104046416	A	G	104046416	3	3	192	1	0	0	0	0	1	0	0	0	15294	449	16	3	1386	3	STAB2	12	104046416	Missense_Mutation	SNP	A	TCGA-HC-8216-01A-11D-A29Q-08	1895369	104046416	29805479	93	8959											
WSCD2	9671	broad.mit.edu	37	chr12	108603945	108603945	+	Missense_Mutation	SNP	G	G	T																															cggcgccgagtgctactgcgGccacaagatccaggcgacga																										TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr12:108603945G>T	ENST00000332082.4	+	5	1363	c.545G>T	c.(544-546)gGc>gTc	p.G182V	WSCD2_ENST00000261400.3_Missense_Mutation_p.G182V|WSCD2_ENST00000549903.1_Missense_Mutation_p.G182V|WSCD2_ENST00000547525.1_Missense_Mutation_p.G182V			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	182	WSC 1.					integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						TGCTACTGCGGCCACAAGATC	0.672													4	53					1	1	1	1	0	T	108603945	G	T	108603945	3	4	192	1	0	0	0	0	1	0	0	0	17467	1203	42	4	555	4	WSCD2	12	108603945	Missense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	4557529	108603945	25247950	94	8960	47	2									
WSCD2	9671	broad.mit.edu	37	chr12	108603946	108603946	+	Silent	SNP	C	C	T																															ggcgccgagtgctactgcggCcacaagatccaggcgacgaa																										TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr12:108603946C>T	ENST00000332082.4	+	5	1364	c.546C>T	c.(544-546)ggC>ggT	p.G182G	WSCD2_ENST00000261400.3_Silent_p.G182G|WSCD2_ENST00000549903.1_Silent_p.G182G|WSCD2_ENST00000547525.1_Silent_p.G182G			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	182	WSC 1.					integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						GCTACTGCGGCCACAAGATCC	0.667													4	53					0	0	1	0	0	T	108603946	C	T	108603946	2	4	192	1	0	0	0	0	0	0	0	1	17467	726	26	2		2	WSCD2	12	108603946	Silent	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	1	108603946	25247949	95	8961	47	2									
SLITRK5	26050	broad.mit.edu	37	chr13	88328640	88328640	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cccctttgaagccccctaagGggactcgccaacccaacaag	11	5	8	17	1	0	1	0	1	0	0	1	2	0	2	6	2	3	0	6	2	5	2			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr13:88328640G>C	ENST00000325089.6	+	2	1216	c.997G>C	c.(997-999)Ggg>Cgg	p.G333R	SLITRK5_ENST00000400028.3_Missense_Mutation_p.G92R	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	333						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GCCCCCTAAGGGGACTCGCCA	0.582													4	161					0	0	1	0	0	C	88328640	G	C	88328640	3	2	192	1	0	0	0	0	1	0	0	0	14800	1232	43	4	999	4	SLITRK5	13	88328640	Missense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08		88328640	26841238	96	8962											
NALCN	259232	broad.mit.edu	37	chr13	101759839	101759839	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaatgaagtgtacttacgCgttgaagcgtgctcggacca	11	10	12	8	4	0	3	0	3	0	0	1	4	0	4	1	1	4	3	1	1	5	3			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr13:101759839C>T	ENST00000251127.6	-	22	2659	c.2579_splice	c.e22+1	p.A860_splice		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	860						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGTACTTACGCGTTGAAGCGT	0.502													8	63					0	0	1	0	0	T	101759839	C	T	101759839	5	4	192	1	0	0	0	0	0	0	1	0	10196	782	27	1	2730	1	NALCN	13	101759839	Splice_Site	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	13431199	101759839	13410039	97	8963											
PYGL	5836	broad.mit.edu	37	chr14	51401885	51401885	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcttcaatttcttctaactCttctatatccaatccaagct	10	18	1	12	0	6	0	1	0	5	0	8	0	8	0	2	0	2	1	2	0	6	8	rs144099482	byFrequency	TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr14:51401885C>T	ENST00000216392.7	-	3	696	c.364G>A	c.(364-366)Gag>Aag	p.E122K	PYGL_ENST00000532462.1_Missense_Mutation_p.E122K|PYGL_ENST00000544180.2_Missense_Mutation_p.E88K	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	122					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	TCTTCTAACTCTTCTATATCC	0.418													4	36					0	0	1	0	0	T	51401885	C	T	51401885	3	4	192	1	0	0	0	0	1	0	0	0	12913	922	32	2	2251	2	PYGL	14	51401885	Missense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08		51401885	55947655	98	8964											
ZFYVE26	23503	broad.mit.edu	37	chr14	68272329	68272329	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctttcaacaatgttagtgCtgttacctgtaagtcaaaga	12	15	7	7	0	3	1	2	0	1	1	3	1	3	1	1	0	3	4	1	0	6	5			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr14:68272329C>T	ENST00000347230.4	-	7	1162	c.1024G>A	c.(1024-1026)Gca>Aca	p.A342T	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.A342T	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	342					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		AATGTTAGTGCTGTTACCTGT	0.433													10	59					0	0	1	0	0	T	68272329	C	T	68272329	3	4	192	1	0	0	0	0	1	0	0	0	17726	797	28	2	6739	2	ZFYVE26	14	68272329	Missense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	16870444	68272329	39077211	99	8965											
RYR3	6263	broad.mit.edu	37	chr15	33988496	33988496	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggattcagagctggtcCgaatgatgttcaacctcctc	9	11	9	12	1	2	2	2	1	0	1	6	4	5	3	4	2	2	2	4	2	2	2			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr15:33988496C>T	ENST00000389232.4	+	39	6008	c.5938C>T	c.(5938-5940)Cga>Tga	p.R1980*	RYR3_ENST00000415757.3_Nonsense_Mutation_p.R1980*	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1980	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.R1980*(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AGAGCTGGTCCGAATGATGTT	0.562													13	64					0	0	1	0	0	T	33988496	C	T	33988496	4	4	192	1	0	0	0	0	0	1	0	0	13822	644	23	1	6092	1	RYR3	15	33988496	Nonsense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08		33988496	68542896	100	8966											
EIF2AK4	440275	broad.mit.edu	37	chr15	40313180	40313180	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccatcaacctaacccagaaActctggacagcaggcatcac	14	5	7	15	0	3	1	2	0	1	1	3	2	3	2	3	2	4	2	3	2	3	1			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr15:40313180A>G	ENST00000263791.5	+	31	4297	c.4254A>G	c.(4252-4254)aaA>aaG	p.K1418K	EIF2AK4_ENST00000382727.2_Silent_p.K1390K	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	1418	Histidyl-tRNA synthetase-like.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		TAACCCAGAAACTCTGGACAG	0.478													5	68					0	0	1	0	0	G	40313180	A	G	40313180	2	3	192	1	0	0	0	0	0	0	0	1	5025	40	2	3		3	EIF2AK4	15	40313180	Silent	SNP	A	TCGA-HC-8216-01A-11D-A29Q-08	6324684	40313180	62218212	101	8967											
SEMA6D	80031	broad.mit.edu	37	chr15	48063581	48063581	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caactctccccagaaatagcCcaaccaagcgagtggatgtc	13	6	8	14	1	1	1	0	0	1	1	3	3	1	2	4	1	4	0	4	1	5	1			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr15:48063581C>G	ENST00000316364.5	+	19	3260	c.2821C>G	c.(2821-2823)Cca>Gca	p.P941A	SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000389428.3_Missense_Mutation_p.P866A|SEMA6D_ENST00000536845.2_Missense_Mutation_p.P941A|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000558014.1_Missense_Mutation_p.P879A|SEMA6D_ENST00000389432.2_Missense_Mutation_p.P898A|SEMA6D_ENST00000354744.4_Missense_Mutation_p.P885A|SEMA6D_ENST00000537942.1_Missense_Mutation_p.P879A|SEMA6D_ENST00000358066.4_Missense_Mutation_p.P879A|SEMA6D_ENST00000389433.2_Missense_Mutation_p.P922A	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	941					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CAGAAATAGCCCAACCAAGCG	0.517													5	161					0	0	1	0	0	G	48063581	C	G	48063581	3	3	192	1	0	0	0	0	1	0	0	0	14096	623	22	4	2934	4	SEMA6D	15	48063581	Missense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	7750401	48063581	54467811	102	8968											
FBN1	2200	broad.mit.edu	37	chr15	48780649	48780649	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggtgtttctgcacttgcCgtgggtgcagaggctgggta	6	12	16	7	1	1	1	0	0	1	1	1	1	1	1	1	4	3	5	1	4	2	3			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr15:48780649C>T	ENST00000316623.5	-	26	3579	c.3124G>A	c.(3124-3126)Ggc>Agc	p.G1042S		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	1042	EGF-like 15; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CTGCACTTGCCGTGGGTGCAG	0.458													7	84					0	0	1	0	0	T	48780649	C	T	48780649	3	4	192	1	0	0	0	0	1	0	0	0	5735	652	23	1	5655	1	FBN1	15	48780649	Missense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	717068	48780649	53750743	103	8969											
VPS13C	54832	broad.mit.edu	37	chr15	62212501	62212501	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcctttaaagagtagtcAaaagtagaagcagtgccctc	13	10	9	9	0	1	2	1	0	0	2	3	2	2	2	2	0	2	3	2	0	7	4			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr15:62212501A>T	ENST00000261517.5	-	57	7315	c.7242T>A	c.(7240-7242)ttT>ttA	p.F2414L	VPS13C_ENST00000249837.3_Missense_Mutation_p.F2371L|VPS13C_ENST00000395896.4_Missense_Mutation_p.F2414L|VPS13C_ENST00000395898.3_Missense_Mutation_p.F2371L	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	2414					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						AAGAGTAGTCAAAAGTAGAAG	0.373													4	36					0	0	1	0	0	T	62212501	A	T	62212501	3	4	192	1	0	0	0	0	1	0	0	0	17251	127	5	5	4163	5	VPS13C	15	62212501	Missense_Mutation	SNP	A	TCGA-HC-8216-01A-11D-A29Q-08	13431852	62212501	40318891	104	8970											
NEO1	4756	broad.mit.edu	37	chr15	73580727	73580727	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaaagatgtgaaacctccaGatctctggatccatcatgag	13	9	8	11	0	2	4	1	2	1	2	5	5	4	5	4	1	1	0	4	1	2	0			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr15:73580727G>C	ENST00000339362.5	+	25	3931	c.3484G>C	c.(3484-3486)Gat>Cat	p.D1162H	NEO1_ENST00000558964.1_Missense_Mutation_p.D1151H|NEO1_ENST00000261908.6_Missense_Mutation_p.D1162H|NEO1_ENST00000560262.1_Missense_Mutation_p.D1162H			Q92859	NEO1_HUMAN	neogenin 1	1162					axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						GAAACCTCCAGATCTCTGGAT	0.463													7	51					0	0	1	0	0	C	73580727	G	C	73580727	3	2	192	1	0	0	0	0	1	0	0	0	10383	942	33	4	3578	4	NEO1	15	73580727	Missense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	11368226	73580727	28950665	105	8971											
PRSS22	64063	broad.mit.edu	37	chr16	2903128	2903128	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggccccagagccctggctcGgtgccctgagggccccaccc	4	4	13	20	2	0	2	0	1	0	1	1	2	0	2	7	4	2	1	7	4	0	0			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr16:2903128G>T	ENST00000161006.3	-	6	985	c.920C>A	c.(919-921)cCg>cAg	p.P307Q	PRSS22_ENST00000571228.1_Missense_Mutation_p.P197Q	NM_022119.3	NP_071402.1	Q9GZN4	BSSP4_HUMAN	protease, serine, 22	307					proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						GCCCTGGCTCGGTGCCCTGAG	0.706													3	26					6.4e-05	7.17949e-05	1	1	0	T	2903128	G	T	2903128	3	4	192	1	0	0	0	0	1	0	0	0	12668	1116	39	4	37	4	PRSS22	16	2903128	Missense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08		2903128	87451625	106	8972											
ZNF263	10127	broad.mit.edu	37	chr16	3334135	3334135	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggtgcaggagctgcatcCggagagcggcgaagaagcgg	10	3	19	9	4	0	2	0	0	0	2	1	5	1	3	1	5	5	3	1	5	2	0			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr16:3334135C>A	ENST00000219069.5	+	1	1193	c.317C>A	c.(316-318)cCg>cAg	p.P106Q	ZNF263_ENST00000538765.1_Intron|ZNF263_ENST00000573578.1_Missense_Mutation_p.P106Q|ZNF263_ENST00000574253.1_Missense_Mutation_p.P106Q	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN	zinc finger protein 263	106	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						GAGCTGCATCCGGAGAGCGGC	0.562													6	95					3.59834e-05	4.08902e-05	1	1	0	A	3334135	C	A	3334135	3	1	192	1	0	0	0	0	1	0	0	0	17861	652	23	4	319	4	ZNF263	16	3334135	Missense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	431007	3334135	87020618	107	8973											
OTOA	146183	broad.mit.edu	37	chr16	21690532	21690532	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggatctcatacagtttcaaaGgtaaaatgccctagaggaga	15	9	10	7	0	2	2	2	0	1	2	3	4	2	3	1	3	2	2	1	3	5	4			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr16:21690532G>T	ENST00000388958.3	+	4	180	c.179_splice	c.e4+1	p.S60_splice	OTOA_ENST00000286149.4_Splice_Site_p.S60_splice	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	60					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		CAGTTTCAAAGGTAAAATGCC	0.343													6	55					0.0293803	0.0300676	1	1	0	T	21690532	G	T	21690532	5	4	192	1	0	0	0	0	0	0	1	0	11349	1014	35	4	193	4	OTOA	16	21690532	Splice_Site	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	18356397	21690532	68664221	108	8974											
SALL1	6299	broad.mit.edu	37	chr16	51173806	51173806	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcaggaccacagcgttcGtgaacttcttctggcagatg	8	10	12	11	2	2	2	0	1	2	1	3	3	2	3	1	2	3	4	1	2	1	3			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr16:51173806G>A	ENST00000440970.1	-	2	2467	c.2036C>T	c.(2035-2037)aCg>aTg	p.T679M	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.T776M|SALL1_ENST00000566102.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	776					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CACAGCGTTCGTGAACTTCTT	0.557													12	73					0	0	1	0	0	A	51173806	G	A	51173806	3	1	192	1	0	0	0	0	1	0	0	0	13862	1145	40	1	1655	1	SALL1	16	51173806	Missense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	29483274	51173806	39180947	109	8975											
TP53	7157	broad.mit.edu	37	chr17	7578509	7578509	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacccacagctgcacagggcAggtcttggccagttggcaaa	11	6	12	12	0	1	0	0	0	1	0	1	0	1	0	2	4	3	5	2	4	2	2			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr17:7578509A>C	ENST00000420246.2	-	5	553	c.421T>G	c.(421-423)Tgc>Ggc	p.C141G	TP53_ENST00000455263.2_Missense_Mutation_p.C141G|TP53_ENST00000269305.4_Missense_Mutation_p.C141G|TP53_ENST00000445888.2_Missense_Mutation_p.C141G|TP53_ENST00000359597.4_Missense_Mutation_p.C141G|TP53_ENST00000413465.2_Missense_Mutation_p.C141G	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	141	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> A (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C141R(13)|p.0?(8)|p.A138_P142delAKTCP(4)|p.N131fs*27(2)|p.C141S(2)|p.C141fs*8(2)|p.L137_W146del10(1)|p.K139fs*4(1)|p.A45_P49delAKTCP(1)|p.C141fs*34(1)|p.C141fs*30(1)|p.C9R(1)|p.A6_P10delAKTCP(1)|p.A138_V143delAKTCPV(1)|p.C48R(1)|p.C141fs*29(1)|p.C141A(1)|p.C141G(1)|p.K139_C141>N(1)|p.K139fs*29(1)|p.T140fs*28(1)|p.C141fs*5(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)		TGCACAGGGCAGGTCTTGGCC	0.567		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)			13	31					0	0	1	0	0	C	7578509	A	C	7578509	3	2	192	1	0	0	0	0	1	0	0	0	16442	188	7	5	877	5	TP53	17	7578509	Missense_Mutation	SNP	A	TCGA-HC-8216-01A-11D-A29Q-08		7578509	73616701	110	8976											
MYH13	8735	broad.mit.edu	37	chr17	10248872	10248872	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctggttgatgcgggtgAccatccacaggaacatcttc	8	10	12	11	1	1	2	0	2	1	0	3	3	2	3	2	3	3	3	2	3	1	2			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr17:10248872A>T	ENST00000418404.3	-	13	1488	c.1325T>A	c.(1324-1326)gTc>gAc	p.V442D	MYH13_ENST00000252172.4_Missense_Mutation_p.V442D|MYH13_ENST00000570743.1_Missense_Mutation_p.V442D			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	442	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GATGCGGGTGACCATCCACAG	0.522													10	135					0	0	1	0	0	T	10248872	A	T	10248872	3	4	192	1	0	0	0	0	1	0	0	0	10080	275	10	5	4603	5	MYH13	17	10248872	Missense_Mutation	SNP	A	TCGA-HC-8216-01A-11D-A29Q-08	2670363	10248872	70946338	111	8977											
TOP3A	7156	broad.mit.edu	37	chr17	18205596	18205596	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acctttaattctgtggaagaTttctggtacaaaagcctgaa	13	13	8	7	0	2	2	0	1	2	1	2	3	2	3	2	2	2	1	2	2	6	5			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr17:18205596T>C	ENST00000321105.5	-	7	1010	c.796A>G	c.(796-798)Atc>Gtc	p.I266V	TOP3A_ENST00000542570.1_Missense_Mutation_p.I171V	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	266					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						CTGTGGAAGATTTCTGGTACA	0.527													10	41					0	0	1	0	0	C	18205596	T	C	18205596	3	2	192	1	0	0	0	0	1	0	0	0	16428	1493	52	3	2261	3	TOP3A	17	18205596	Missense_Mutation	SNP	T	TCGA-HC-8216-01A-11D-A29Q-08	7956724	18205596	62989614	112	8978											
LIG3	3980	broad.mit.edu	37	chr17	33324773	33324773	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagacctctgtgtgagcggCggaagtttcttcatgacaac	9	11	11	10	2	4	3	2	2	2	1	4	4	4	4	1	2	2	1	1	2	2	2			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr17:33324773C>T	ENST00000378526.4	+	12	1973	c.1840C>T	c.(1840-1842)Cgg>Tgg	p.R614W	LIG3_ENST00000262327.5_Missense_Mutation_p.R614W	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	614					base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	GTGTGAGCGGCGGAAGTTTCT	0.488								Other BER factors					6	62					0	0	1	0	0	T	33324773	C	T	33324773	3	4	192	1	0	0	0	0	1	0	0	0	8822	759	27	1	1882	1	LIG3	17	33324773	Missense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	15119177	33324773	47870437	113	8979											
GSDMB	55876	broad.mit.edu	37	chr17	38062397	38062397	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgccgaatatcctccttGccgaggcacttagcgaggga	8	9	11	13	3	0	0	0	0	0	0	3	4	3	1	5	2	3	1	5	2	3	3			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr17:38062397G>A	ENST00000394175.2	-	5	1012	c.789C>T	c.(787-789)ggC>ggT	p.G263G	GSDMB_ENST00000520542.1_Silent_p.G276G|GSDMB_ENST00000360317.3_Silent_p.G285G|GSDMB_ENST00000418519.1_Silent_p.G285G|GSDMB_ENST00000309481.7_Silent_p.G272G|GSDMB_ENST00000394179.1_Silent_p.G280G	NM_018530.2	NP_061000.2	Q8TAX9	GSDMB_HUMAN	gasdermin B	280						cytoplasm				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						TATCCTCCTTGCCGAGGCACT	0.517													10	73					0	0	1	0	0	A	38062397	G	A	38062397	2	1	192	1	0	0	0	0	0	0	0	1	6858	1306	46	2		2	GSDMB	17	38062397	Silent	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	4737624	38062397	43132813	114	8980											
KRT23	25984	broad.mit.edu	37	chr17	39084808	39084808	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atcttccctgggacctgtatCcaccttcacattgacattga	9	13	6	13	0	2	2	1	2	1	0	4	3	4	3	4	1	0	1	4	1	1	5			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr17:39084808C>T	ENST00000209718.3	-	5	1112	c.688G>A	c.(688-690)Gat>Aat	p.D230N	KRT23_ENST00000436344.3_Missense_Mutation_p.D93N|AC004231.2_ENST00000418393.1_RNA	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	230	Linker 12.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				GGACCTGTATCCACCTTCACA	0.408													19	157					0	0	1	0	0	T	39084808	C	T	39084808	3	4	192	1	0	0	0	0	1	0	0	0	8503	855	30	2	600	2	KRT23	17	39084808	Missense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	1022411	39084808	42110402	115	8981											
RND2	8153	broad.mit.edu	37	chr17	41177403	41177403	+	Frame_Shift_Del	DEL	G	G	-																															cgctgcaagatcgtggtggtGggagacgcagagtgcggcaa																										TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr17:41177403delG	ENST00000544533.1	+	1	146	c.39delG	c.(37-39)gtfs	p.V13fs	RND2_ENST00000587250.2_Frame_Shift_Del_p.V13fs	NM_005440.4	NP_005431.1	P52198	RND2_HUMAN	Rho family GTPase 2	13					small GTPase mediated signal transduction	acrosomal membrane	GTP binding|GTPase activity			large_intestine(1)|skin(1)	2		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TCGTGGTGGTGGGAGACGCAG	0.731													2	4	---	---	---	---						-	41177403	G	-	41177403	7	5	192	1	0	1	0	1	0	0	0	0	13472	1335	47	0	41	0	RND2	17	41177403	Frame_Shift_Del	DEL	G	TCGA-HC-8216-01A-11D-A29Q-08	2092595	41177403	40017807	116	8982											
MKS1	54903	broad.mit.edu	37	chr17	56285908	56285908	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggtggtgcaggtctgtgttActcctgagagctgctggaat	6	13	15	7	0	1	1	0	1	1	1	2	3	2	2	1	4	4	4	1	4	2	1			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr17:56285908A>C	ENST00000393119.2	-	12	1135	c.1061T>G	c.(1060-1062)gTa>gGa	p.V354G	MKS1_ENST00000537529.2_Missense_Mutation_p.V344G|MKS1_ENST00000313863.6_Missense_Mutation_p.V354G|MKS1_ENST00000337050.7_Missense_Mutation_p.V354G|MKS1_ENST00000546108.1_Missense_Mutation_p.V151G	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	354	B9.				cilium assembly	centrosome|cilium|microtubule basal body	protein binding			endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						GGTCTGTGTTACTCCTGAGAG	0.498													19	35					0	0	1	0	0	C	56285908	A	C	56285908	3	2	192	1	0	0	0	0	1	0	0	0	9657	391	14	5	646	5	MKS1	17	56285908	Missense_Mutation	SNP	A	TCGA-HC-8216-01A-11D-A29Q-08	15108505	56285908	24909302	117	8983											
PIK3C3	5289	broad.mit.edu	37	chr18	39607410	39607410	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaaactatttttaaggtaTgtgatagtggaatgtgaaga	14	14	10	3	0	1	3	1	2	0	1	1	4	1	4	0	2	1	1	0	2	7	6			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr18:39607410T>C	ENST00000262039.4	+	14	1574	c.1488T>C	c.(1486-1488)taT>taC	p.Y496Y	PIK3C3_ENST00000593098.1_5'UTR|PIK3C3_ENST00000398870.3_Silent_p.Y433Y	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	496					cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						TTTTAAGGTATGTGATAGTGG	0.333										TSP Lung(28;0.18)			3	38					0	0	1	0	0	C	39607410	T	C	39607410	2	2	192	1	0	0	0	0	0	0	0	1	11960	1471	51	3		3	PIK3C3	18	39607410	Silent	SNP	T	TCGA-HC-8216-01A-11D-A29Q-08		39607410	38469838	118	8984											
ALPK2	115701	broad.mit.edu	37	chr18	56203847	56203847	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccaccacggagaccctcGtcccccaacctgagcgctgc	8	4	9	20	3	0	2	0	1	0	1	2	3	1	2	6	1	4	1	6	1	1	0			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr18:56203847G>A	ENST00000361673.3	-	5	3785	c.3572C>T	c.(3571-3573)aCg>aTg	p.T1191M	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1191							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GGAGACCCTCGTCCCCCAACC	0.557													5	140					0	0	1	0	0	A	56203847	G	A	56203847	3	1	192	1	0	0	0	0	1	0	0	0	541	1145	40	1	2976	1	ALPK2	18	56203847	Missense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	16596437	56203847	21873401	119	8985											
EEF2	1938	broad.mit.edu	37	chr19	3984203	3984203	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagcgtgtctccccggccCgggccgaggcgatgatgccc	5	6	15	15	5	1	2	0	2	1	0	2	4	1	2	5	3	2	0	5	3	1	0			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr19:3984203C>G	ENST00000309311.6	-	2	237	c.149G>C	c.(148-150)cGg>cCg	p.R50P	EEF2_ENST00000600720.1_5'UTR	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	50						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCCCGGCCCGGGCCGAGGC	0.622													32	121					0	0	1	0	0	G	3984203	C	G	3984203	3	3	192	1	0	0	0	0	1	0	0	0	4955	652	23	4	2483	4	EEF2	19	3984203	Missense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08		3984203	55144780	120	8986											
CREB3L3	84699	broad.mit.edu	37	chr19	4170156	4170156	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggatgtcagcttgcactgctCagaatcaggagttacagagg	11	9	13	8	0	3	2	3	0	0	2	3	4	3	4	0	3	4	4	0	3	2	2			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr19:4170156C>G	ENST00000602147.1	+	6	814	c.734C>G	c.(733-735)tCa>tGa	p.S245*	CREB3L3_ENST00000078445.2_Missense_Mutation_p.Q281E|CREB3L3_ENST00000602257.1_Missense_Mutation_p.Q279E|CREB3L3_ENST00000595923.1_Missense_Mutation_p.Q280E|CREB3L3_ENST00000252587.3_Intron			Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	0					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGCACTGCTCAGAATCAGGA	0.562													6	107					0	0	1	0	0	G	4170156	C	G	4170156	4	3	192	1	0	0	0	0	0	1	0	0	3881	827	29	4	867	4	CREB3L3	19	4170156	Nonsense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	185953	4170156	54958827	121	8987											
MUC16	94025	broad.mit.edu	37	chr19	9086744	9086744	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taatgactggctgatgcttcTtcctggagcactagtaacaa	11	12	9	9	0	1	2	0	2	1	0	2	3	2	3	1	2	3	4	1	2	4	5			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr19:9086744T>A	ENST00000397910.4	-	1	5274	c.5071A>T	c.(5071-5073)Aga>Tga	p.R1691*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1691	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGATGCTTCTTCCTGGAGCA	0.478													5	119					0	0	1	0	0	A	9086744	T	A	9086744	4	1	192	1	0	0	0	0	0	1	0	0	10021	1617	56	5	38788	5	MUC16	19	9086744	Nonsense_Mutation	SNP	T	TCGA-HC-8216-01A-11D-A29Q-08	4916588	9086744	50042239	122	8988											
LDLR	3949	broad.mit.edu	37	chr19	11233932	11233932	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgtaaggacacagcacacAaccacccgacctgttcccga	12	4	8	17	3	0	0	0	0	0	0	1	3	1	1	5	1	2	3	5	1	2	2			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr19:11233932A>T	ENST00000558518.1	+	15	2410	c.2223A>T	c.(2221-2223)acA>acT	p.T741T	LDLR_ENST00000558013.1_Silent_p.T741T|LDLR_ENST00000557933.1_Silent_p.T741T|LDLR_ENST00000545707.1_Silent_p.T563T|LDLR_ENST00000535915.1_Silent_p.T700T|LDLR_ENST00000455727.2_Silent_p.T573T	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	741	Clustered O-linked oligosaccharides.				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity			breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	CACAGCACACAACCACCCGAC	0.582													9	83					0	0	1	0	0	T	11233932	A	T	11233932	2	4	192	1	0	0	0	0	0	0	0	1	8743	117	5	5		5	LDLR	19	11233932	Silent	SNP	A	TCGA-HC-8216-01A-11D-A29Q-08	2147188	11233932	47895051	123	8989											
ACP5	54	broad.mit.edu	37	chr19	11687381	11687381	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggatcttgaagtgcaggcGgtagaaagggctggggaagt	10	8	19	4	1	1	2	0	1	1	1	1	4	1	4	0	6	1	3	0	6	4	2			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr19:11687381G>A	ENST00000592828.1	-	6	814	c.412C>T	c.(412-414)Cgc>Tgc	p.R138C	ACP5_ENST00000218758.5_Missense_Mutation_p.R138C|ACP5_ENST00000590420.1_Intron|ACP5_ENST00000412435.2_Missense_Mutation_p.R138C|ACP5_ENST00000433365.2_Missense_Mutation_p.R138C	NM_001111034.1	NP_001104504.1	P13686	PPA5_HUMAN	acid phosphatase 5, tartrate resistant	138					water-soluble vitamin metabolic process	cytosol|integral to membrane|lysosome	acid phosphatase activity|ferric iron binding|ferrous iron binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	9						AAGTGCAGGCGGTAGAAAGGG	0.562													19	41					0	0	1	0	0	A	11687381	G	A	11687381	3	1	192	1	0	0	0	0	1	0	0	0	164	1116	39	1	573	1	ACP5	19	11687381	Missense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	453449	11687381	47441602	124	8990											
ANKLE1	126549	broad.mit.edu	37	chr19	17394177	17394177	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccccttgaaactgtggacAaacatgggagctcggcgtcc	9	9	11	12	2	0	1	0	1	0	0	3	3	2	3	3	3	3	1	3	3	2	2			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr19:17394177A>G	ENST00000394458.3	+	5	880	c.604A>G	c.(604-606)Aaa>Gaa	p.K202E	ANKLE1_ENST00000594072.1_Missense_Mutation_p.K191E|ANKLE1_ENST00000433424.2_Missense_Mutation_p.K256E|ANKLE1_ENST00000404085.1_Missense_Mutation_p.K224E|ANKLE1_ENST00000598347.1_Missense_Mutation_p.K202E	NM_152363.4	NP_689576.4	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	202						nuclear envelope				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						AACTGTGGACAAACATGGGAG	0.602													5	125					0	0	1	0	0	G	17394177	A	G	17394177	3	3	192	1	0	0	0	0	1	0	0	0	628	131	5	3	622	3	ANKLE1	19	17394177	Missense_Mutation	SNP	A	TCGA-HC-8216-01A-11D-A29Q-08	5706796	17394177	41734806	125	8991											
SIGLEC11	114132	broad.mit.edu	37	chr19	50461937	50461937	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagagacgtgctgggagccCagagggtgctgagcgtggca	9	5	19	8	2	0	4	0	1	0	3	0	6	0	5	1	3	4	3	1	3	0	0			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr19:50461937C>A	ENST00000447370.2	-	7	1416	c.1326G>T	c.(1324-1326)ctG>ctT	p.L442L	SIGLEC11_ENST00000426971.2_Silent_p.L442L	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	442	Ig-like C2-type 3.				cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		GCTGGGAGCCCAGAGGGTGCT	0.667													12	142					2.68362e-12	3.30728e-12	1	1	0	A	50461937	C	A	50461937	2	1	192	1	0	0	0	0	0	0	0	1	14362	581	21	4		4	SIGLEC11	19	50461937	Silent	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	33067760	50461937	8667046	126	8992											
LILRB2	0	broad.mit.edu	37	chr19	54778668	54778668	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaggtcacatcctggggggCttcagatgcagcagcctgca	8	8	14	11	0	2	1	2	0	0	1	3	1	3	1	2	4	4	5	2	4	1	2			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr19:54778668C>A	ENST00000391748.1	-	14	1790	c.1663G>T	c.(1663-1665)Gcc>Tcc	p.A555S	LILRB2_ENST00000434421.1_Missense_Mutation_p.A440S|LILRB2_ENST00000391746.1_3'UTR|LILRB2_ENST00000391749.4_Missense_Mutation_p.A556S|LILRB2_ENST00000314446.5_Missense_Mutation_p.A555S	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	556					cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCCTGGGGGGCTTCAGATGCA	0.637													4	81					0.00024832	0.000275038	1	1	0	A	54778668	C	A	54778668	3	1	192	1	0	0	0	0	1	0	0	0	8831	797	28	4	134	4	LILRB2	19	54778668	Missense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	4316731	54778668	4350315	127	8993											
TMEM86B	255043	broad.mit.edu	37	chr19	55739730	55739730	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agcgaaccaggacagctggtCctcgggaatccagaggcaga	12	4	14	11	2	0	2	0	0	0	2	3	5	2	4	3	4	3	2	3	4	2	0			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr19:55739730C>A	ENST00000327042.4	-	2	649	c.127G>T	c.(127-129)Gac>Tac	p.D43Y	AC010327.2_ENST00000598855.1_3'UTR	NM_173804.4	NP_776165.3	Q8N661	TM86B_HUMAN	transmembrane protein 86B	43					ether lipid metabolic process	cytoplasmic part|integral to membrane	alkenylglycerophosphocholine hydrolase activity|alkenylglycerophosphoethanolamine hydrolase activity			skin(2)	2			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)		GACAGCTGGTCCTCGGGAATC	0.637													4	42					1	1	1	1	0	A	55739730	C	A	55739730	3	1	192	1	0	0	0	0	1	0	0	0	16269	855	30	4	561	4	TMEM86B	19	55739730	Missense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	961062	55739730	3389253	128	8994											
DEFB125	245938	broad.mit.edu	37	chr20	76981	76981	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggccactactcccgagActactatgccaccatctgag	10	8	8	15	1	1	3	0	2	1	1	2	4	2	3	4	1	3	0	4	1	3	3			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr20:76981A>T	ENST00000382410.2	+	2	394	c.394A>T	c.(394-396)Act>Tct	p.T132S		NM_153325.2	NP_697020.2	Q8N687	DB125_HUMAN	defensin, beta 125	132					defense response to bacterium	extracellular region				central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.156)			TACTCCCGAGACTACTATGCC	0.433													8	218					0	0	1	0	0	T	76981	A	T	76981	3	4	192	1	0	0	0	0	1	0	0	0	4438	275	10	5	400	5	DEFB125	20	76981	Missense_Mutation	SNP	A	TCGA-HC-8216-01A-11D-A29Q-08		76981	62948539	129	8995											
PCSK2	5126	broad.mit.edu	37	chr20	17410083	17410083	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttatatttttccaaagccaCgggacccgatgtgcaggaga	11	11	10	9	2	0	1	0	0	0	1	1	4	1	2	3	2	2	1	3	2	3	5	rs114984146	byFrequency	TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr20:17410083C>T	ENST00000262545.2	+	7	939	c.624C>T	c.(622-624)caC>caT	p.H208H	PCSK2_ENST00000377899.1_Silent_p.H189H|PCSK2_ENST00000536609.1_Silent_p.H173H	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	208	Catalytic.				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCCAAAGCCACGGGACCCGAT	0.438													6	130					0	0	1	0	0	T	17410083	C	T	17410083	2	4	192	1	0	0	0	0	0	0	0	1	11648	535	19	1		1	PCSK2	20	17410083	Silent	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	17333102	17410083	45615437	130	8996											
MYLK2	85366	broad.mit.edu	37	chr20	30408169	30408169	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgggcccccggcagccctgcCccagcagactgcgacacctg	6	4	12	19	2	0	1	0	0	0	1	0	2	0	1	6	2	4	2	6	2	0	0			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr20:30408169C>T	ENST00000375994.2	+	2	566	c.293C>T	c.(292-294)cCc>cTc	p.P98L	MYLK2_ENST00000375985.4_Missense_Mutation_p.P98L			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	98					cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GCAGCCCTGCCCCAGCAGACT	0.687													7	40					0	0	1	0	0	T	30408169	C	T	30408169	3	4	192	1	0	0	0	0	1	0	0	0	10105	623	22	2	299	2	MYLK2	20	30408169	Missense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	12998086	30408169	32617351	131	8997											
MYLK2	85366	broad.mit.edu	37	chr20	30409476	30409476	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccaggctgttccctcagaGaaatccgaggtggggcaggc	8	8	14	11	1	1	1	1	0	0	1	4	3	4	1	3	5	0	3	3	5	1	2			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr20:30409476G>T	ENST00000375994.2	+	3	981	c.708G>T	c.(706-708)gaG>gaT	p.E236D	MYLK2_ENST00000375985.4_Missense_Mutation_p.E236D			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	236					cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TTCCCTCAGAGAAATCCGAGG	0.632													22	118					4.26978e-12	5.22525e-12	1	1	0	T	30409476	G	T	30409476	3	4	192	1	0	0	0	0	1	0	0	0	10105	933	33	4	718	4	MYLK2	20	30409476	Missense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	1307	30409476	32616044	132	8998											
KIF3B	9371	broad.mit.edu	37	chr20	30897748	30897748	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccatgaaatgcccaagacCttcacctttgatgccgtcta	10	10	7	14	1	2	3	1	2	1	1	2	3	2	3	5	0	2	0	5	0	3	3			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr20:30897748C>G	ENST00000375712.3	+	2	335	c.168C>G	c.(166-168)acC>acG	p.T56T		NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	56	Kinesin-motor.				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TGCCCAAGACCTTCACCTTTG	0.498													5	61					0	0	1	0	0	G	30897748	C	G	30897748	2	3	192	1	0	0	0	0	0	0	0	1	8343	668	24	4		4	KIF3B	20	30897748	Silent	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08	488272	30897748	32127772	133	8999											
JPH2	57158	broad.mit.edu	37	chr20	42747201	42747201	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtgcgagcaatgttggacTcctggttggcagccagggcg	8	8	16	9	2	0	0	0	0	0	0	1	2	1	1	2	4	3	4	2	4	2	2			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr20:42747201T>C	ENST00000372980.3	-	3	2104	c.1232A>G	c.(1231-1233)gAg>gGg	p.E411G		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	411					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			AATGTTGGACTCCTGGTTGGC	0.612													7	191					0	0	1	0	0	C	42747201	T	C	42747201	3	2	192	1	0	0	0	0	1	0	0	0	8005	1551	54	3	870	3	JPH2	20	42747201	Missense_Mutation	SNP	T	TCGA-HC-8216-01A-11D-A29Q-08	11849453	42747201	20278319	134	9000											
CTSZ	1522	broad.mit.edu	37	chr20	57576623	57576623	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccccttcacaggagccagcGttaccgcagtcgatgacgtt	8	8	10	15	4	1	1	1	1	0	0	2	3	1	2	4	1	3	3	4	1	1	3			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr20:57576623G>A	ENST00000217131.5	-	3	502	c.384C>T	c.(382-384)aaC>aaT	p.N128N		NM_001336.3	NP_001327.2	Q9UBR2	CATZ_HUMAN	cathepsin Z	128					proteolysis	endoplasmic reticulum|extracellular space|lysosome	cysteine-type endopeptidase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	10	all_lung(29;0.00711)		Colorectal(105;0.109)			AGGAGCCAGCGTTACCGCAGT	0.602													4	73					0	0	1	0	0	A	57576623	G	A	57576623	2	1	192	1	0	0	0	0	0	0	0	1	4067	1136	40	1		1	CTSZ	20	57576623	Silent	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	14829422	57576623	5448897	135	9001											
SLC17A9	63910	broad.mit.edu	37	chr20	61596500	61596500	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtaggttacagagccatcacGgtgcggaagctcatgcaggt	10	8	14	9	2	2	1	2	0	0	1	2	2	2	2	1	4	5	4	1	4	3	2			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr20:61596500G>C	ENST00000370349.3	+	10	1113	c.909G>C	c.(907-909)acG>acC	p.T303T	SLC17A9_ENST00000370351.4_Silent_p.T309T|SLC17A9_ENST00000488738.1_3'UTR			Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	309					exocytosis|transmembrane transport	integral to membrane	transporter activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						GAGCCATCACGGTGCGGAAGC	0.587													4	68					0	0	1	0	0	C	61596500	G	C	61596500	2	2	192	1	0	0	0	0	0	0	0	1	14479	1103	39	4		4	SLC17A9	20	61596500	Silent	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	4019877	61596500	1429020	136	9002											
AGPAT3	56894	broad.mit.edu	37	chr21	45389131	45389131	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtggtcgaagggctgaggCgcctgtcggactaccccgag	6	6	16	13	5	0	1	0	1	0	0	2	4	0	2	4	4	1	1	4	4	2	1			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr21:45389131C>T	ENST00000398063.2	+	4	973	c.481C>T	c.(481-483)Cgc>Tgc	p.R161C	AGPAT3_ENST00000398061.1_Missense_Mutation_p.R161C|AGPAT3_ENST00000327505.2_Missense_Mutation_p.R161C|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000291572.8_Missense_Mutation_p.R161C|AGPAT3_ENST00000546158.1_Missense_Mutation_p.R161C|AGPAT3_ENST00000398058.1_Missense_Mutation_p.R161C	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	161					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		AGGGCTGAGGCGCCTGTCGGA	0.637													4	131					0	0	1	0	0	T	45389131	C	T	45389131	3	4	192	1	0	0	0	0	1	0	0	0	385	768	27	1	491	1	AGPAT3	21	45389131	Missense_Mutation	SNP	C	TCGA-HC-8216-01A-11D-A29Q-08		45389131	2740764	137	9003											
LZTR1	8216	broad.mit.edu	37	chr22	21349317	21349317	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaccagccagtggacattggTagggagccccgttccccttc	7	8	12	14	1	0	0	0	0	0	0	2	3	1	2	6	3	2	2	6	3	1	4			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chr22:21349317T>G	ENST00000215739.8	+	16	2301		c.e16+2		LZTR1_ENST00000479606.1_Splice_Site|LZTR1_ENST00000389355.3_Splice_Site	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1						anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TGGACATTGGTAGGGAGCCCC	0.647													9	92					0	0	1	0	0	G	21349317	T	G	21349317	5	3	192	1	0	0	0	0	0	0	1	0	9183	1652	57	5	2006	5	LZTR1	22	21349317	Splice_Site	SNP	T	TCGA-HC-8216-01A-11D-A29Q-08		21349317	29955249	138	9004											
ARSE	415	broad.mit.edu	37	chrX	2876456	2876456	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacagcgagcatcgctggcAgccagctcctgaaacacaaa	13	5	10	13	2	0	1	0	1	0	0	2	2	1	1	2	1	6	5	2	1	3	1			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chrX:2876456A>G	ENST00000545496.1	-	4	410	c.119T>C	c.(118-120)cTg>cCg	p.L40P	ARSE_ENST00000381134.3_Missense_Mutation_p.L15P|ARSE_ENST00000496095.1_5'UTR|ARSE_ENST00000540563.1_Intron			P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	15					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CATCGCTGGCAGCCAGCTCCT	0.517													4	31					0	0	1	0	0	G	2876456	A	G	2876456	3	3	192	1	0	0	0	0	1	0	0	0	989	188	7	3	1761	3	ARSE	23	2876456	Missense_Mutation	SNP	A	TCGA-HC-8216-01A-11D-A29Q-08		2876456	152394104	139	9005											
TFDP3	51270	broad.mit.edu	37	chrX	132351872	132351872	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgctggcagctctgaacttgGcgaccagctcgcccaccact	7	8	10	16	2	1	1	0	1	1	0	2	2	1	1	3	2	4	4	3	2	1	1			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chrX:132351872G>A	ENST00000310125.4	-	1	504	c.416C>T	c.(415-417)gCc>gTc	p.A139V		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	139						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					TCTGAACTTGGCGACCAGCTC	0.552													4	47					0	0	1	0	0	A	132351872	G	A	132351872	3	1	192	1	0	0	0	0	1	0	0	0	15859	1203	42	2	805	2	TFDP3	23	132351872	Missense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	129475416	132351872	22918688	140	9006											
RBMX	27316	broad.mit.edu	37	chrX	135961213	135961213	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggctgcatccttagcgtctGctgggctttcaaaggtgaca	7	12	12	10	1	2	1	1	1	1	0	3	1	3	1	1	3	3	4	1	3	2	2			TCGA-HC-8216-01A-11D-A29Q-08	TCGA-HC-8216-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a9df8aa-9487-4bf5-b8a5-a16e2f28eaaf	436a93af-a810-4d2e-aaea-b63735c080c4	g.chrX:135961213G>T	ENST00000562646.1	-	3	333	c.179C>A	c.(178-180)gCa>gAa	p.A60E	RBMX_ENST00000320676.7_Missense_Mutation_p.A60E|RBMX_ENST00000570135.1_5'UTR|RBMX_ENST00000565438.1_Intron|RBMX_ENST00000431446.3_Missense_Mutation_p.A60E			P38159	HNRPG_HUMAN	RNA binding motif protein, X-linked	60	RRM.					catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CTTAGCGTCTGCTGGGCTTTC	0.383													5	100					1	1	1	1	0	T	135961213	G	T	135961213	3	4	192	1	0	0	0	0	1	0	0	0	13203	1319	46	4	1079	4	RBMX	23	135961213	Missense_Mutation	SNP	G	TCGA-HC-8216-01A-11D-A29Q-08	3609341	135961213	19309347	141	9007											
FBXO42	54455	broad.mit.edu	37	chr1	16577179	16577179	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacacattatctctttgctcGtacaaagtacaaggcgtttg	12	13	7	9	2	1	0	0	0	1	0	3	0	1	0	0	1	4	4	0	1	6	5			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr1:16577179G>A	ENST00000375592.3	-	10	2356	c.2140C>T	c.(2140-2142)Cga>Tga	p.R714*		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	714										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		CTCTTTGCTCGTACAAAGTAC	0.398													3	91					0	0	1	0	0	A	16577179	G	A	16577179	4	1	193	1	0	0	0	0	0	1	0	0	5784	1153	40	1	17	1	FBXO42	1	16577179	Nonsense_Mutation	SNP	G	TCGA-HC-8256-01A-11D-2260-08		16577179	232673442	1	9008											
NBPF1	55672	broad.mit.edu	37	chr1	16890543	16890543	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgaagctgatgtgctgttcCtcaaatgagtaaaacacact	13	10	9	9	1	1	2	1	2	0	0	2	3	2	2	1	0	3	4	1	0	4	2			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr1:16890543C>G	ENST00000430580.2	-	29	4202	c.3315G>C	c.(3313-3315)gaG>gaC	p.E1105D		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	1085	NBPF 7.					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)		TGTGCTGTTCCTCAAATGAGT	0.453													52	770					0	0	1	0	0	G	16890543	C	G	16890543	3	3	193	1	0	0	0	0	1	0	0	0	10240	680	24	4	108	4	NBPF1	1	16890543	Missense_Mutation	SNP	C	TCGA-HC-8256-01A-11D-2260-08	313364	16890543	232360078	2	9009											
DENND4B	9909	broad.mit.edu	37	chr1	153907309	153907309	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgttgCtgctgctgctgctgttgccg	0	15	14	12	1	0	0	0	0	0	0	0	0	0	0	1	0	11	12	1	0	0	2			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr1:153907309C>T	ENST00000361217.4	-	18	3118	c.2700G>A	c.(2698-2700)caG>caA	p.Q900Q		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	900	Gln-rich.							p.Q788Q(1)|p.Q900Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			gctgctgttgctgctgctgct	0.642													3	46					0	0	1	0	0	T	153907309	C	T	153907309	2	4	193	1	0	0	0	0	0	0	0	1	4462	796	28	2		2	DENND4B	1	153907309	Silent	SNP	C	TCGA-HC-8256-01A-11D-2260-08	137016766	153907309	95343312	3	9010											
OR10Z1	128368	broad.mit.edu	37	chr1	158577018	158577018	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtgtacctgaggcccaaaGccagctactctcttgagaga	10	9	10	12	1	1	3	0	2	1	1	3	4	1	3	3	1	4	2	3	1	3	3			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr1:158577018G>A	ENST00000361284.1	+	1	790	c.790G>A	c.(790-792)Gcc>Acc	p.A264T		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					GAGGCCCAAAGCCAGCTACTC	0.483													5	243					0	0	1	0	0	A	158577018	G	A	158577018	3	1	193	1	0	0	0	0	1	0	0	0	10971	971	34	2	792	2	OR10Z1	1	158577018	Missense_Mutation	SNP	G	TCGA-HC-8256-01A-11D-2260-08	4669709	158577018	90673603	4	9011											
XPR1	9213	broad.mit.edu	37	chr1	180793908	180793908	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtatttaaacttgaaacAgatagaagtatatggccctt	14	13	8	6	0	0	3	0	1	0	2	0	3	0	3	1	1	2	3	1	1	8	8			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr1:180793908A>T	ENST00000367590.4	+	8	981	c.783A>T	c.(781-783)acA>acT	p.T261T	XPR1_ENST00000367589.3_Silent_p.T261T	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	261						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						AACTTGAAACAGATAGAAGTA	0.338													10	43					0	0	1	0	0	T	180793908	A	T	180793908	2	4	193	1	0	0	0	0	0	0	0	1	17511	175	7	5		5	XPR1	1	180793908	Silent	SNP	A	TCGA-HC-8256-01A-11D-2260-08	22216890	180793908	68456713	5	9012											
POTEF	728378	broad.mit.edu	37	chr2	130877866	130877866	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccacgttgctcttgccacTccccctgcagcaggggaagc	6	7	11	17	1	1	0	0	0	1	0	2	1	2	1	4	2	5	4	4	2	1	2			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr2:130877866T>C	ENST00000357462.5	-	1	316	c.223A>G	c.(223-225)Agt>Ggt	p.S75G	POTEF_ENST00000360967.5_Missense_Mutation_p.S75G|POTEF_ENST00000361163.4_Missense_Mutation_p.S75G|POTEF_ENST00000409914.2_Missense_Mutation_p.S75G			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	75						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CTCTTGCCACTCCCCCTGCAG	0.592													3	202					0	0	1	0	0	C	130877866	T	C	130877866	3	2	193	1	0	0	0	0	1	0	0	0	12312	1551	54	3	3064	3	POTEF	2	130877866	Missense_Mutation	SNP	T	TCGA-HC-8256-01A-11D-2260-08		130877866	112321507	6	9013											
NAALADL2	254827	broad.mit.edu	37	chr3	175041963	175041963	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagcttgcttccctcttttaGctttcctcattggaaaaggc	7	16	7	11	0	2	0	1	0	1	0	4	1	4	1	2	2	3	3	2	2	4	7			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr3:175041963G>T	ENST00000454872.1	+	5	1067		c.e5-1		NAALADL2_ENST00000473253.1_Splice_Site	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2						proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		CCCTCTTTTAGCTTTCCTCAT	0.378													5	173					0.0293803	0.0309543	1	1	0	T	175041963	G	T	175041963	5	4	193	1	0	0	0	0	0	0	1	0	10178	985	34	4	957	4	NAALADL2	3	175041963	Splice_Site	SNP	G	TCGA-HC-8256-01A-11D-2260-08		175041963	22980467	7	9014											
ATP13A5	344905	broad.mit.edu	37	chr3	193051645	193051645	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtatagtttgaagttcagaGgccgggggtacaggatggat	10	11	16	4	1	1	2	1	1	0	1	1	4	1	4	1	5	1	4	1	5	4	5			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr3:193051645G>A	ENST00000342358.4	-	11	1283	c.1166C>T	c.(1165-1167)cCt>cTt	p.P389L		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	389					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GAAGTTCAGAGGCCGGGGGTA	0.453													8	31					0	0	1	0	0	A	193051645	G	A	193051645	3	1	193	1	0	0	0	0	1	0	0	0	1126	1000	35	2	2568	2	ATP13A5	3	193051645	Missense_Mutation	SNP	G	TCGA-HC-8256-01A-11D-2260-08	18009682	193051645	4970785	8	9015											
SHROOM3	57619	broad.mit.edu	37	chr4	77661470	77661470	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctcctgacctcgggagccAtctggaccggcaggtttcct	5	9	12	15	3	1	1	0	1	1	0	4	3	3	3	5	4	1	3	5	4	0	1			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr4:77661470A>G	ENST00000296043.6	+	5	3097	c.2144A>G	c.(2143-2145)cAt>cGt	p.H715R		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	715					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CTCGGGAGCCATCTGGACCGG	0.677													18	70					0	0	1	0	0	G	77661470	A	G	77661470	3	3	193	1	0	0	0	0	1	0	0	0	14350	217	8	3	2162	3	SHROOM3	4	77661470	Missense_Mutation	SNP	A	TCGA-HC-8256-01A-11D-2260-08		77661470	113492806	9	9016											
PKD2	5311	broad.mit.edu	37	chr4	88989084	88989084	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatcacagttctttaccacGtcccatgagcagccgaagtt	10	10	9	12	2	2	1	1	1	1	0	3	3	3	2	3	1	3	3	3	1	2	4			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr4:88989084G>A	ENST00000237596.2	+	13	2459	c.2393G>A	c.(2392-2394)cGt>cAt	p.R798H	PKD2_ENST00000508588.1_Missense_Mutation_p.R216H|PKD2_ENST00000502363.1_Missense_Mutation_p.R216H|PKD2_ENST00000511337.1_3'UTR	NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	798						basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		TCTTTACCACGTCCCATGAGC	0.527													5	17					0	0	1	0	0	A	88989084	G	A	88989084	3	1	193	1	0	0	0	0	1	0	0	0	12014	1145	40	1	2443	1	PKD2	4	88989084	Missense_Mutation	SNP	G	TCGA-HC-8256-01A-11D-2260-08	11327614	88989084	102165192	10	9017											
GYPE	2996	broad.mit.edu	37	chr4	144826671	144826671	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccatacatcctgagatcaCgagctggctcctgaagttag	10	11	9	11	1	1	2	1	2	0	1	4	4	4	2	3	1	2	3	3	1	3	3			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr4:144826671C>T	ENST00000358615.4	-	0	41				GYPE_ENST00000437468.2_De_novo_Start_OutOfFrame	NM_198682.2	NP_941391.2	P15421	GLPE_HUMAN	glycophorin E (MNS blood group)							integral to plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	all_hematologic(180;0.158)					CCTGAGATCACGAGCTGGCTC	0.398													4	38					0	0	1	0	0	T	144826671	C	T	144826671	1	4	193	1	0	0	0	0	0	0	0	0	6952	551	19	1		1	GYPE	4	144826671	Translation_Start_Site	SNP	C	TCGA-HC-8256-01A-11D-2260-08	55837587	144826671	46327605	11	9018											
GPR98	84059	broad.mit.edu	37	chr5	89939768	89939768	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgatggtctaattgtgatgaTaaatgaaagcaaaggagatg	16	11	12	2	0	1	5	0	4	1	1	1	6	1	5	0	2	1	1	0	2	5	3			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr5:89939768T>C	ENST00000405460.2	+	14	2798	c.2702T>C	c.(2701-2703)aTa>aCa	p.I901T		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	901					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATTGTGATGATAAATGAAAGC	0.299													10	13					0	0	1	0	0	C	89939768	T	C	89939768	3	2	193	1	0	0	0	0	1	0	0	0	6762	1406	49	3	2756	3	GPR98	5	89939768	Missense_Mutation	SNP	T	TCGA-HC-8256-01A-11D-2260-08		89939768	90975492	12	9019											
GNL1	2794	broad.mit.edu	37	chr6	30514006	30514008	+	In_Frame_Del	DEL	TCC	TCC	-																															agctgctcagctcttcctctTcctcctcctcctcgtcacct																										TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr6:30514006_30514008delTCC	ENST00000376621.3	-	12	2635_2637	c.1665_1667delGGA	c.(1663-1668)gaa>ga	p.EE557del		NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	557	Asp/Glu-rich (highly acidic).				response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						ctcttcctcttcctcctcctcct	0.631													4	8	---	---	---	---						-	30514008	TCC	-	30514006	7	5	193	1	0	1	0	1	0	0	0	0	6577	1783	62	0	160	0	GNL1	6	30514006	In_Frame_Del	DEL	TCC	TCGA-HC-8256-01A-11D-2260-08		30514006	140601061	13	9020											
RXRB	6257	broad.mit.edu	37	chr6	33168113	33168113	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaccgccgccgccgccgcCgctgcgggatccagccaggg	4	2	15	20	7	0	0	0	0	0	0	1	1	1	1	9	2	2	1	9	2	0	0			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr6:33168113C>T	ENST00000413614.2	-	1	320	c.101G>A	c.(100-102)cGg>cAg	p.R34Q	RXRB_ENST00000544186.1_Intron|RXRB_ENST00000374680.3_Silent_p.A47A|RXRB_ENST00000374685.4_Silent_p.A47A			P28702	RXRB_HUMAN	retinoid X receptor, beta	298	Modulating (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	ccgccgccgccgctgcGGGAT	0.736													2	7					0	0	1	0	0	T	33168113	C	T	33168113	3	4	193	1	0	0	0	0	1	0	0	0	13816	639	23	1	1500	1	RXRB	6	33168113	Missense_Mutation	SNP	C	TCGA-HC-8256-01A-11D-2260-08	2654107	33168113	137946954	14	9021											
VEGFA	7422	broad.mit.edu	37	chr6	43745341	43745341	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcccctgatgcgatgcggggGctgctgcaatgacgagggcc	6	6	17	12	3	0	2	0	2	0	0	0	4	0	2	3	3	4	3	3	3	1	0			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr6:43745341G>A	ENST00000372067.3	+	3	1288	c.794G>A	c.(793-795)gGc>gAc	p.G265D	VEGFA_ENST00000372077.4_Missense_Mutation_p.G85D|VEGFA_ENST00000520948.1_Missense_Mutation_p.G85D|VEGFA_ENST00000518824.1_Missense_Mutation_p.G85D|VEGFA_ENST00000457104.2_Missense_Mutation_p.G85D|VEGFA_ENST00000324450.6_Missense_Mutation_p.G265D|VEGFA_ENST00000372064.4_Missense_Mutation_p.G265D|VEGFA_ENST00000372055.4_Missense_Mutation_p.G265D|VEGFA_ENST00000413642.3_Missense_Mutation_p.G265D|VEGFA_ENST00000425836.2_Missense_Mutation_p.G265D|VEGFA_ENST00000482630.2_Missense_Mutation_p.G265D|VEGFA_ENST00000518689.1_Missense_Mutation_p.G85D|VEGFA_ENST00000417285.2_Missense_Mutation_p.G265D|VEGFA_ENST00000523125.1_Missense_Mutation_p.G85D|VEGFA_ENST00000230480.6_Missense_Mutation_p.G57D|VEGFA_ENST00000523873.1_Missense_Mutation_p.G85D|VEGFA_ENST00000523950.1_Missense_Mutation_p.G85D	NM_001025366.2|NM_001025367.2|NM_001025368.2|NM_001025369.2|NM_001033756.2|NM_001171623.1|NM_001171624.1|NM_001171625.1|NM_001171626.1|NM_001171627.1|NM_001171629.1|NM_003376.5	NP_001020537.2|NP_001020538.2|NP_001020539.2|NP_001020540.2|NP_001028928.1|NP_001165094.1|NP_001165095.1|NP_001165096.1|NP_001165097.1|NP_001165098.1|NP_001165100.1|NP_003367.4	P15692	VEGFA_HUMAN	vascular endothelial growth factor A	85					basophil chemotaxis|cellular response to hypoxia|induction of positive chemotaxis|platelet activation|platelet degranulation|platelet-derived growth factor receptor signaling pathway|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cell adhesion|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of leukocyte migration|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular permeability|regulation of cell shape|vascular endothelial growth factor receptor signaling pathway|vasculogenesis	cell surface|extracellular space|membrane|platelet alpha granule lumen	cell surface binding|chemoattractant activity|cytokine activity|fibronectin binding|growth factor activity|heparin binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|vascular endothelial growth factor receptor 1 binding|vascular endothelial growth factor receptor 2 binding|vascular endothelial growth factor receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		Atorvastatin(DB01076)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Simvastatin(DB00641)	CGATGCGGGGGCTGCTGCAAT	0.587													3	67					0	0	1	0	0	A	43745341	G	A	43745341	3	1	193	1	0	0	0	0	1	0	0	0	17210	1203	42	2	804	2	VEGFA	6	43745341	Missense_Mutation	SNP	G	TCGA-HC-8256-01A-11D-2260-08	10577228	43745341	127369726	15	9022											
THEMIS	387357	broad.mit.edu	37	chr6	128134393	128134393	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcctcttcaatggaaagatCcctgacagacaccttcacat	12	10	6	13	0	3	3	2	1	1	2	5	4	5	4	3	1	0	0	3	1	2	2			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr6:128134393C>A	ENST00000368250.1	-	5	1654	c.1156G>T	c.(1156-1158)Gat>Tat	p.D386Y	THEMIS_ENST00000537166.1_Missense_Mutation_p.D430Y|THEMIS_ENST00000543064.1_Missense_Mutation_p.D465Y|THEMIS_ENST00000368248.2_Missense_Mutation_p.D465Y			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	465	CABIT 2.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		p.D465Y(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						ATGGAAAGATCCCTGACAGAC	0.468													7	43					8.12818e-05	9.22236e-05	1	1	0	A	128134393	C	A	128134393	3	1	193	1	0	0	0	0	1	0	0	0	15920	855	30	4	665	4	THEMIS	6	128134393	Missense_Mutation	SNP	C	TCGA-HC-8256-01A-11D-2260-08	84389052	128134393	42980674	16	9023											
ENPP3	5169	broad.mit.edu	37	chr6	131973760	131973760	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgctcttgttcagatgactGtttgcagaggaaagattgct	9	15	11	6	0	2	4	1	1	1	3	2	5	2	5	0	1	3	5	0	1	1	5			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr6:131973760G>A	ENST00000414305.1	+	5	684	c.356G>A	c.(355-357)tGt>tAt	p.C119Y	ENPP3_ENST00000357639.3_Missense_Mutation_p.C119Y|ENPP3_ENST00000427148.2_Missense_Mutation_p.C85Y|ENPP3_ENST00000543135.1_Missense_Mutation_p.C85Y|ENPP3_ENST00000358229.5_Missense_Mutation_p.C119Y|ENPP3_ENST00000470930.1_3'UTR			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	119	SMB 2.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		TCAGATGACTGTTTGCAGAGG	0.443													29	85					0	0	1	0	0	A	131973760	G	A	131973760	3	1	193	1	0	0	0	0	1	0	0	0	5159	1377	48	2	370	2	ENPP3	6	131973760	Missense_Mutation	SNP	G	TCGA-HC-8256-01A-11D-2260-08	3839367	131973760	39141307	17	9024											
PIK3CG	5294	broad.mit.edu	37	chr7	106508996	106508996	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccactggtggatgactgcacGggagtcaccggctaccatga	9	7	13	12	2	1	2	1	2	0	0	1	4	1	4	3	4	2	2	3	4	1	1			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr7:106508996G>T	ENST00000359195.3	+	2	1300	c.990G>T	c.(988-990)acG>acT	p.T330T	PIK3CG_ENST00000440650.2_Silent_p.T330T|PIK3CG_ENST00000496166.1_Silent_p.T330T	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	330					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						ATGACTGCACGGGAGTCACCG	0.592													14	77					5.60225e-13	6.61065e-13	1	1	0	T	106508996	G	T	106508996	2	4	193	1	0	0	0	0	0	0	0	1	11964	1103	39	4		4	PIK3CG	7	106508996	Silent	SNP	G	TCGA-HC-8256-01A-11D-2260-08		106508996	52629667	18	9025											
ADAMDEC1	27299	broad.mit.edu	37	chr8	24254909	24254909	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctaaccacacatgtggtgtGaagagcactgacgggaaaca	14	6	12	9	1	0	3	0	2	0	1	0	4	0	4	1	2	3	2	1	2	3	1			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr8:24254909G>A	ENST00000538205.1	+	7	877	c.330G>A	c.(328-330)gtG>gtA	p.V110V	ADAMDEC1_ENST00000522298.1_Silent_p.V110V|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000256412.4_Silent_p.V189V	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	189					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		CATGTGGTGTGAAGAGCACTG	0.438													35	137					0	0	1	0	0	A	24254909	G	A	24254909	2	1	193	1	0	0	0	0	0	0	0	1	253	1277	45	2		2	ADAMDEC1	8	24254909	Silent	SNP	G	TCGA-HC-8256-01A-11D-2260-08		24254909	122109113	19	9026											
PAG1	55824	broad.mit.edu	37	chr8	81897549	81897549	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cctgggaatccagcagatccGaggccgatgtctggacttcc	8	8	12	13	2	1	1	0	0	1	1	4	5	4	3	5	3	1	1	5	3	1	1			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr8:81897549G>C	ENST00000220597.4	-	7	1048	c.338C>G	c.(337-339)tCg>tGg	p.S113W		NM_018440.3	NP_060910.3	Q9NWQ8	PAG1_HUMAN	phosphoprotein associated with glycosphingolipid microdomains 1	113					epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			CAGCAGATCCGAGGCCGATGT	0.527													2	20					0	0	1	0	0	C	81897549	G	C	81897549	3	2	193	1	0	0	0	0	1	0	0	0	11435	1059	37	4	972	4	PAG1	8	81897549	Missense_Mutation	SNP	G	TCGA-HC-8256-01A-11D-2260-08	57642640	81897549	64466473	20	9027											
ADCY8	114	broad.mit.edu	37	chr8	131859738	131859738	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggttcttcaagggtatcgActtgtcaaaatcacaccaca	13	10	7	11	1	4	0	3	0	1	0	5	1	4	0	1	2	0	2	1	2	4	4			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr8:131859738A>T	ENST00000286355.5	-	11	4526	c.2434T>A	c.(2434-2436)Tcg>Acg	p.S812T	ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	812					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AAGGGTATCGACTTGTCAAAA	0.393										HNSCC(32;0.087)			5	27					0	0	1	0	0	T	131859738	A	T	131859738	3	4	193	1	0	0	0	0	1	0	0	0	299	275	10	5	1353	5	ADCY8	8	131859738	Missense_Mutation	SNP	A	TCGA-HC-8256-01A-11D-2260-08	49962189	131859738	14504284	21	9028											
PNLIPRP2	5408	broad.mit.edu	37	chr10	118396277	118396277	+	RNA	DEL	G	G	-																															ttgactaacagacaaattatGgttttttttttccactagag																								rs148140777	by1000genomes	TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr10:118396277delG	ENST00000537242.1	+	0	962				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000298771.7_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		GACAAATTATGGTTTTTTTTT	0.423													2	4	---	---	---	---						-	118396277	G	-	118396277	6	5	193	0	1	1	0	1	0	0	0	0	12199	1363	47	0		0	PNLIPRP2	10	118396277	RNA	DEL	G	TCGA-HC-8256-01A-11D-2260-08		118396277	17138470	22	9029											
TRIM5	85363	broad.mit.edu	37	chr11	5701211	5701211	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catgccgattaggccgtatgTtctcaggctggtaactgatc	8	12	11	10	2	1	1	1	1	1	0	3	2	1	1	2	3	2	4	2	3	3	4			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr11:5701211T>G	ENST00000305836.5	-	2	499	c.197A>C	c.(196-198)aAc>aCc	p.N66T	TRIM5_ENST00000396853.4_Missense_Mutation_p.N66T|TRIM5_ENST00000396855.3_Missense_Mutation_p.N66T|TRIM5_ENST00000380034.3_Missense_Mutation_p.N66T|TRIM5_ENST00000380027.1_Missense_Mutation_p.N66T|TRIM5_ENST00000396847.3_Missense_Mutation_p.N66T			Q9C035	TRIM5_HUMAN	tripartite motif containing 5	66					interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		AGGCCGTATGTTCTCAGGCTG	0.527													4	106					0	0	1	0	0	G	5701211	T	G	5701211	3	3	193	1	0	0	0	0	1	0	0	0	16586	1725	60	5	1551	5	TRIM5	11	5701211	Missense_Mutation	SNP	T	TCGA-HC-8256-01A-11D-2260-08		5701211	129305305	23	9030											
F2	2147	broad.mit.edu	37	chr11	46747681	46747681	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgtgtggtgctatgtggccGggaagcctggcgactttggg	4	10	19	8	3	0	0	0	0	0	0	0	2	0	1	2	5	2	1	2	5	2	2			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr11:46747681G>A	ENST00000311907.5	+	7	888	c.832G>A	c.(832-834)Ggg>Agg	p.G278R	F2_ENST00000530231.1_Missense_Mutation_p.G278R	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	278	Kringle 2.				activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	CTATGTGGCCGGGAAGCCTGG	0.587													3	117					0	0	1	0	0	A	46747681	G	A	46747681	3	1	193	1	0	0	0	0	1	0	0	0	5370	1116	39	1	858	1	F2	11	46747681	Missense_Mutation	SNP	G	TCGA-HC-8256-01A-11D-2260-08	41046470	46747681	88258835	24	9031											
FOLH1B	219595	broad.mit.edu	37	chr11	89395322	89395322	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatttttttttttcagaataCgcttataggcatggaattgc	11	18	7	5	1	1	1	1	0	0	1	1	2	1	2	0	2	2	2	0	2	6	9			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr11:89395322C>T	ENST00000532352.1	+	0	720							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TTTCAGAATACGCTTATAGGC	0.343													3	22					0	0	1	0	0	T	89395322	C	T	89395322	1	4	193	0	1	0	0	0	0	0	0	0	6013	551	19	1		1	FOLH1B	11	89395322	RNA	SNP	C	TCGA-HC-8256-01A-11D-2260-08	42647641	89395322	45611194	25	9032			1	23		2	2	12	N	C_A	1.670058e-05
FOLH1B	219595	broad.mit.edu	37	chr11	89395333	89395333	+	RNA	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagaatacgcttataggcAtggaattgcagaggctgttg	11	12	12	6	1	1	2	1	0	0	2	1	3	1	3	0	3	2	5	0	3	5	6			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr11:89395333A>G	ENST00000532352.1	+	0	731							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						GCTTATAGGCATGGAATTGCA	0.348													3	37					0	0	1	0	0	G	89395333	A	G	89395333	1	3	193	0	1	0	0	0	0	0	0	0	6013	232	8	3		3	FOLH1B	11	89395333	RNA	SNP	A	TCGA-HC-8256-01A-11D-2260-08	11	89395333	45611183	26	9033			1	23		2	2	12	N	C_A	1.670058e-05
DDX47	51202	broad.mit.edu	37	chr12	12980209	12980226	+	In_Frame_Del	DEL	AACACTTAATTGGGAAGA	AACACTTAATTGGGAAGA	-																															ggaactcttccagcgcatagAacacttaattgggaagaaac																										TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr12:12980209_12980226delAACACTTAATTGGGAAGA	ENST00000358007.3	+	11	1158_1175	c.1136_1153delAACACTTAATTGGGAAGA	c.(1135-1155)gaa>g	p.EHLIGKK379del	RP11-59H1.3_ENST00000534843.1_3'UTR|DDX47_ENST00000352940.4_In_Frame_Del_p.EHLIGKK330del	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	379	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		CAGCGCATAGAACACTTAATTGGGAAGAAACTACCAGG	0.454													11	72	---	---	---	---						-	12980226	AACACTTAATTGGGAAGA	-	12980209	7	5	193	1	0	1	0	1	0	0	0	0	4388	246	9	0	1178	0	DDX47	12	12980209	In_Frame_Del	DEL	AACACTTAATTGGGAAGA	TCGA-HC-8256-01A-11D-2260-08		12980209	120871686	27	9034											
ZNF592	9640	broad.mit.edu	37	chr15	85327345	85327345	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgccccaggctcacagacagGcaagaagcaacagagcacag	15	2	11	13	0	1	3	1	0	0	3	1	3	1	3	2	2	4	4	2	2	3	0			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr15:85327345G>T	ENST00000299927.3	+	1	1461	c.1439G>T	c.(1438-1440)gGc>gTc	p.G480V	ZNF592_ENST00000560079.2_Missense_Mutation_p.G480V			Q92610	ZN592_HUMAN	zinc finger protein 592	480					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TCACAGACAGGCAAGAAGCAA	0.632													3	32					0.115264	0.119308	1	1	0	T	85327345	G	T	85327345	3	4	193	1	0	0	0	0	1	0	0	0	18079	1203	42	4	1441	4	ZNF592	15	85327345	Missense_Mutation	SNP	G	TCGA-HC-8256-01A-11D-2260-08		85327345	17204047	28	9035											
IGFALS	3483	broad.mit.edu	37	chr16	1842475	1842475	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcctgataccagcacagccGgaagcggcgctcaggtgtga	10	5	14	12	3	1	2	1	2	0	0	1	3	1	3	3	3	5	2	3	3	2	1			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr16:1842475G>A	ENST00000415638.3	-	2	137	c.58C>T	c.(58-60)Cgg>Tgg	p.R20W	IGFALS_ENST00000568221.1_Intron|IGFALS_ENST00000215539.3_Intron	NM_001146006.1|NM_004970.2	NP_001139478.1|NP_004961.1	P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid labile subunit	0					cell adhesion|signal transduction	soluble fraction	insulin-like growth factor binding			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						CAGCACAGCCGGAAGCGGCGC	0.682													2	6					0	0	1	0	0	A	1842475	G	A	1842475	3	1	193	1	0	0	0	0	1	0	0	0	7621	1115	39	1	1877	1	IGFALS	16	1842475	Missense_Mutation	SNP	G	TCGA-HC-8256-01A-11D-2260-08		1842475	88512278	29	9036											
PRSS27	83886	broad.mit.edu	37	chr16	2770147	2770147	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagcaggagcggcaccgcCgccggccgcctcatgtcctc	6	4	13	18	5	1	0	1	0	0	0	3	1	2	1	6	3	3	3	6	3	0	0			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr16:2770147C>T	ENST00000302641.3	-	1	69	c.15G>A	c.(13-15)gcG>gcA	p.A5A		NM_031948.3	NP_114154.1	Q9BQR3	PRS27_HUMAN	protease, serine 27	5					proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						GCGGCACCGCCGCCGGCCGCC	0.692													4	4					0	0	1	0	0	T	2770147	C	T	2770147	2	4	193	1	0	0	0	0	0	0	0	1	12670	639	23	1		1	PRSS27	16	2770147	Silent	SNP	C	TCGA-HC-8256-01A-11D-2260-08	927672	2770147	87584606	30	9037											
SETD1A	9739	broad.mit.edu	37	chr16	30972685	30972685	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcctgaaggatatgtgccGtaagtacggtgaggtggaag	10	10	15	6	2	0	2	0	2	0	0	1	4	1	4	2	4	2	2	2	4	5	4			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr16:30972685G>A	ENST00000262519.8	+	4	1030	c.344G>A	c.(343-345)cGt>cAt	p.R115H		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	115	RRM.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						GATATGTGCCGTAAGTACGGT	0.567													3	70					0	0	1	0	0	A	30972685	G	A	30972685	3	1	193	1	0	0	0	0	1	0	0	0	14184	1145	40	1	354	1	SETD1A	16	30972685	Missense_Mutation	SNP	G	TCGA-HC-8256-01A-11D-2260-08	28202538	30972685	59382068	31	9038											
ASPA	443	broad.mit.edu	37	chr17	3379480	3379480	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcttgtcacattgctgaagaAcatatacaaaaggttgctat	14	13	7	7	0	2	2	1	1	1	1	2	2	2	2	0	1	4	3	0	1	7	6			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr17:3379480A>G	ENST00000263080.2	+	1	185	c.27A>G	c.(25-27)gaA>gaG	p.E9E	SPATA22_ENST00000541913.1_Intron|ASPA_ENST00000456349.2_Silent_p.E9E	NM_000049.2	NP_000040.1	P45381	ACY2_HUMAN	aspartoacylase	9					aspartate catabolic process	cytoplasm|nucleus	aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17					L-Aspartic Acid(DB00128)	TTGCTGAAGAACATATACAAA	0.383													21	86					0	0	1	0	0	G	3379480	A	G	3379480	2	3	193	1	0	0	0	0	0	0	0	1	1049	40	2	3		3	ASPA	17	3379480	Silent	SNP	A	TCGA-HC-8256-01A-11D-2260-08		3379480	77815730	32	9039											
MYH1	4619	broad.mit.edu	37	chr17	10404784	10404784	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccgggaggcccgctctgcCtcgatttcctcctccagctc	3	9	10	19	3	1	0	0	0	1	0	6	2	4	1	6	2	2	2	6	2	0	1			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr17:10404784C>T	ENST00000226207.5	-	27	3475	c.3381G>A	c.(3379-3381)gaG>gaA	p.E1127E	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1127						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CCCGCTCTGCCTCGATTTCCT	0.542													3	51					0	0	1	0	0	T	10404784	C	T	10404784	2	4	193	1	0	0	0	0	0	0	0	1	10077	680	24	2		2	MYH1	17	10404784	Silent	SNP	C	TCGA-HC-8256-01A-11D-2260-08	7025304	10404784	70790426	33	9040											
GGNBP2	79893	broad.mit.edu	37	chr17	34934521	34934521	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcactttatgaaggcttGcggtgctgtccacatgaacg	8	11	12	10	2	0	2	0	2	0	0	1	2	1	2	1	2	4	4	1	2	3	3			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr17:34934521G>A	ENST00000304718.4	+	7	1066	c.750G>A	c.(748-750)ttG>ttA	p.L250L		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	250					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		ATGAAGGCTTGCGGTGCTGTC	0.458													67	152					0	0	1	0	0	A	34934521	G	A	34934521	2	1	193	1	0	0	0	0	0	0	0	1	6401	1310	46	2		2	GGNBP2	17	34934521	Silent	SNP	G	TCGA-HC-8256-01A-11D-2260-08	24529737	34934521	46260689	34	9041											
CNTNAP1	8506	broad.mit.edu	37	chr17	40847632	40847632	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagttctcccacatgctgaGccggccagtgccaggctatg	7	8	13	13	1	1	1	0	1	1	0	2	2	1	2	4	3	3	3	4	3	1	2			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr17:40847632G>T	ENST00000264638.4	+	19	3303	c.3086G>T	c.(3085-3087)aGc>aTc	p.S1029I	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	1029					axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	p.S1029I(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CACATGCTGAGCCGGCCAGTG	0.617													5	55					1	1	1	1	0	T	40847632	G	T	40847632	3	4	193	1	0	0	0	0	1	0	0	0	3669	971	34	4	3160	4	CNTNAP1	17	40847632	Missense_Mutation	SNP	G	TCGA-HC-8256-01A-11D-2260-08	5913111	40847632	40347578	35	9042											
PRKCSH	5589	broad.mit.edu	37	chr19	11560110	11560110	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgcgggaaagagaccatGgtgaccagcaccacagagcc	12	4	13	12	1	0	3	0	1	0	2	0	5	0	4	4	2	3	1	4	2	1	0			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr19:11560110G>A	ENST00000252455.2	+	17	1806	c.1470G>A	c.(1468-1470)atG>atA	p.M490I	PRKCSH_ENST00000412601.1_Missense_Mutation_p.M487I|PRKCSH_ENST00000587327.1_Missense_Mutation_p.M487I|PRKCSH_ENST00000591462.1_Missense_Mutation_p.M487I|PRKCSH_ENST00000592741.1_Missense_Mutation_p.M497I|PRKCSH_ENST00000589838.1_Missense_Mutation_p.M490I	NM_002743.2	NP_002734.2	P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	490					innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						AAGAGACCATGGTGACCAGCA	0.692													5	66					0	0	1	0	0	A	11560110	G	A	11560110	3	1	193	1	0	0	0	0	1	0	0	0	12568	1348	47	2	1553	2	PRKCSH	19	11560110	Missense_Mutation	SNP	G	TCGA-HC-8256-01A-11D-2260-08		11560110	47568873	36	9043											
PGLYRP2	114770	broad.mit.edu	37	chr19	15582853	15582853	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcggcagctgcagcagcttCgggcggccccgataaggcgc	7	4	16	14	5	0	0	0	0	0	0	1	1	0	0	2	4	5	5	2	4	1	2			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr19:15582853C>T	ENST00000292609.4	-	3	1320	c.1191G>A	c.(1189-1191)ccG>ccA	p.P397P	PGLYRP2_ENST00000340880.4_Silent_p.P397P			Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	397					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						GCAGCAGCTTCGGGCGGCCCC	0.662													3	28					0	0	1	0	0	T	15582853	C	T	15582853	2	4	193	1	0	0	0	0	0	0	0	1	11842	871	31	1		1	PGLYRP2	19	15582853	Silent	SNP	C	TCGA-HC-8256-01A-11D-2260-08	4022743	15582853	43546130	37	9044											
FXYD3	5349	broad.mit.edu	37	chr19	35613746	35613746	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatcatcatcgtcatgagtGagtggaggagctcgggggag	9	8	17	7	2	3	2	3	2	0	0	5	5	3	5	0	4	1	2	0	4	0	0			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr19:35613746G>T	ENST00000435734.2	+	7	434	c.175G>T	c.(175-177)Gag>Tag	p.E59*	FXYD3_ENST00000605677.1_Nonsense_Mutation_p.E59*|FXYD3_ENST00000605550.1_Intron|FXYD3_ENST00000604804.1_Intron|FXYD3_ENST00000604621.1_Intron|FXYD3_ENST00000604404.1_Intron|FXYD3_ENST00000603524.1_Intron|FXYD3_ENST00000604255.1_Intron|FXYD3_ENST00000603181.1_Intron|FXYD3_ENST00000535103.1_Intron|FXYD3_ENST00000406988.1_Intron|FXYD3_ENST00000406242.3_Nonsense_Mutation_p.E59*|FXYD3_ENST00000346446.5_Nonsense_Mutation_p.E59*|FXYD3_ENST00000344013.6_Intron	NM_001136011.1|NM_021910.2	NP_001129483.1|NP_068710.1	Q14802	FXYD3_HUMAN	FXYD domain containing ion transport regulator 3	58						chloride channel complex|integral to plasma membrane	chloride channel activity			endometrium(1)|lung(2)|prostate(1)	4	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			CGTCATGAGTGAGTGGAGGAG	0.632													4	135					0.014758	0.0158313	1	1	0	T	35613746	G	T	35613746	4	4	193	1	0	0	0	0	0	1	0	0	6154	1291	45	4	457	4	FXYD3	19	35613746	Nonsense_Mutation	SNP	G	TCGA-HC-8256-01A-11D-2260-08	20030893	35613746	23515237	38	9045											
ZNF571	51276	broad.mit.edu	37	chr19	38057181	38057181	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ataactttttggtcacacaaCtggattccaagtctgtagaa	13	13	7	8	0	2	1	1	0	1	1	3	2	3	2	1	2	2	1	1	2	5	5			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr19:38057181C>G	ENST00000328550.2	-	4	248	c.149G>C	c.(148-150)aGt>aCt	p.S50T	ZNF571-AS1_ENST00000589750.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF571_ENST00000358744.3_Missense_Mutation_p.S50T|ZNF571_ENST00000451802.2_Missense_Mutation_p.S50T|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571_ENST00000593133.1_Missense_Mutation_p.S50T|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000586139.1_RNA			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	50	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGTCACACAACTGGATTCCAA	0.328													8	38					0	0	1	0	0	G	38057181	C	G	38057181	3	3	193	1	0	0	0	0	1	0	0	0	18060	565	20	4	1684	4	ZNF571	19	38057181	Missense_Mutation	SNP	C	TCGA-HC-8256-01A-11D-2260-08	2443435	38057181	21071802	39	9046											
PAK7	57144	broad.mit.edu	37	chr20	9546933	9546933	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgcttgaggaatagcccgaTttgctttgactttgaggtag	8	14	12	7	1	0	3	0	3	0	0	0	5	0	4	1	2	3	3	1	2	3	6			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr20:9546933T>C	ENST00000378429.3	-	6	1635	c.1089A>G	c.(1087-1089)aaA>aaG	p.K363K	PAK7_ENST00000378423.1_Silent_p.K363K|PAK7_ENST00000353224.5_Silent_p.K363K	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	363	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			AATAGCCCGATTTGCTTTGAC	0.557													3	142					0	0	1	0	0	C	9546933	T	C	9546933	2	2	193	1	0	0	0	0	0	0	0	1	11452	1490	52	3		3	PAK7	20	9546933	Silent	SNP	T	TCGA-HC-8256-01A-11D-2260-08		9546933	53478587	40	9047											
CSRP2BP	57325	broad.mit.edu	37	chr20	18142699	18142699	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagatgtgattctggaaaaAggcgaagtgattgacttttc	12	12	11	6	1	1	4	0	3	1	1	2	6	1	5	1	2	0	0	1	2	3	4			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr20:18142699A>G	ENST00000278816.2	+	6	1568	c.918A>G	c.(916-918)aaA>aaG	p.K306K	CSRP2BP_ENST00000489634.2_Silent_p.K178K|CSRP2BP_ENST00000377681.2_Silent_p.K305K|CSRP2BP_ENST00000435364.2_Silent_p.K306K			Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	306					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						TTCTGGAAAAAGGCGAAGTGA	0.542													3	102					0	0	1	0	0	G	18142699	A	G	18142699	2	3	193	1	0	0	0	0	0	0	0	1	3993	69	3	3		3	CSRP2BP	20	18142699	Silent	SNP	A	TCGA-HC-8256-01A-11D-2260-08	8595766	18142699	44882821	41	9048											
HUNK	30811	broad.mit.edu	37	chr21	33318388	33318388	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagggatcctgggttactcGgatccgttcagcacacagtg	8	9	13	11	2	1	0	1	0	0	0	4	2	3	2	2	3	2	4	2	3	1	2			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr21:33318388G>A	ENST00000270112.2	+	4	1011	c.651G>A	c.(649-651)tcG>tcA	p.S217S		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	217	Protein kinase.				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						TGGGTTACTCGGATCCGTTCA	0.522													14	85					0	0	1	0	0	A	33318388	G	A	33318388	2	1	193	1	0	0	0	0	0	0	0	1	7502	1103	39	1		1	HUNK	21	33318388	Silent	SNP	G	TCGA-HC-8256-01A-11D-2260-08		33318388	14811507	42	9049											
TMPRSS6	164656	broad.mit.edu	37	chr22	37499387	37499387	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggccttgaacatcccctccGgctccgcttcctcgccatca	6	9	7	19	3	1	1	1	1	0	0	6	1	5	1	7	2	1	2	7	2	1	2			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr22:37499387G>A	ENST00000381792.2	-	2	211	c.71C>T	c.(70-72)cCg>cTg	p.P24L	TMPRSS6_ENST00000442782.2_Missense_Mutation_p.P33L|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.P24L|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.P24L|TMPRSS6_ENST00000346753.3_Missense_Mutation_p.P33L			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	33					angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CATCCCCTCCGGCTCCGCTTC	0.662													3	113					0	0	1	0	0	A	37499387	G	A	37499387	3	1	193	1	0	0	0	0	1	0	0	0	16311	1116	39	1	2405	1	TMPRSS6	22	37499387	Missense_Mutation	SNP	G	TCGA-HC-8256-01A-11D-2260-08		37499387	13805179	43	9050											
CELSR1	9620	broad.mit.edu	37	chr22	46835238	46835238	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgccgatgagcaggttcacGcaggtgcccccgttcttgca	6	8	12	15	4	2	1	1	1	1	0	2	2	2	1	4	2	3	5	4	2	0	3			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chr22:46835238G>A	ENST00000262738.3	-	3	4253	c.4254C>T	c.(4252-4254)tgC>tgT	p.C1418C		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1418	EGF-like 3; calcium-binding.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GCAGGTTCACGCAGGTGCCCC	0.652													10	62					0	0	1	0	0	A	46835238	G	A	46835238	2	1	193	1	0	0	0	0	0	0	0	1	3243	1079	38	1		1	CELSR1	22	46835238	Silent	SNP	G	TCGA-HC-8256-01A-11D-2260-08	9335851	46835238	4469328	44	9051											
POLA1	5422	broad.mit.edu	37	chrX	24861702	24861702	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgtatcgttgcagtaacAtcgattgtaaggcttcacct	9	14	9	9	2	1	0	1	0	0	0	3	1	1	0	1	1	2	7	1	1	3	7			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chrX:24861702A>G	ENST00000379068.3	+	34	3998	c.3955A>G	c.(3955-3957)Atc>Gtc	p.I1319V	POLA1_ENST00000379059.3_Missense_Mutation_p.I1313V			P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	1313					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	TTGCAGTAACATCGATTGTAA	0.373													13	16					0	0	1	0	0	G	24861702	A	G	24861702	3	3	193	1	0	0	0	0	1	0	0	0	12235	217	8	3	4071	3	POLA1	23	24861702	Missense_Mutation	SNP	A	TCGA-HC-8256-01A-11D-2260-08		24861702	130408858	45	9052											
SMARCA1	6594	broad.mit.edu	37	chrX	128638774	128638774	+	Frame_Shift_Del	DEL	A	A	-																															ttagtgtcaaaccaagaatcAaagtcctgtagaggggtgga																										TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chrX:128638774delA	ENST00000371122.4	-	9	1233	c.1104delT	c.(1102-1104)ttfs	p.F368fs	SMARCA1_ENST00000371121.3_Frame_Shift_Del_p.F368fs|SMARCA1_ENST00000371123.1_Frame_Shift_Del_p.F368fs	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	368					ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						ACCAAGAATCAAAGTCCTGTA	0.343													44	46	---	---	---	---						-	128638774	A	-	128638774	7	5	193	1	0	1	0	1	0	0	0	0	14822	127	5	0	2124	0	SMARCA1	23	128638774	Frame_Shift_Del	DEL	A	TCGA-HC-8256-01A-11D-2260-08	103777072	128638774	26631786	46	9053											
SLITRK2	84631	broad.mit.edu	37	chrX	144906446	144906446	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagaaccggactacctcgaaGttctggaaaaacaaactgca	16	6	8	11	2	1	1	0	0	1	1	2	4	1	3	2	2	5	2	2	2	6	2			TCGA-HC-8256-01A-11D-2260-08	TCGA-HC-8256-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e9272d1-8ef5-42c5-933e-c466a8f22479	f1e42f84-82bb-4e9a-9093-d8dc73dc6653	g.chrX:144906446G>T	ENST00000370490.1	+	1	6758	c.2503G>T	c.(2503-2505)Gtt>Ttt	p.V835F	SLITRK2_ENST00000447897.2_Missense_Mutation_p.V835F|SLITRK2_ENST00000413937.2_Missense_Mutation_p.V835F|SLITRK2_ENST00000434188.2_Missense_Mutation_p.V835F|SLITRK2_ENST00000428560.2_Missense_Mutation_p.V835F			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	835						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CTACCTCGAAGTTCTGGAAAA	0.468													21	14					0.000375601	0.000418122	1	1	0	T	144906446	G	T	144906446	3	4	193	1	0	0	0	0	1	0	0	0	14797	1029	36	4	2505	4	SLITRK2	23	144906446	Missense_Mutation	SNP	G	TCGA-HC-8256-01A-11D-2260-08	16267672	144906446	10364114	47	9054											
EXTL1	2134	broad.mit.edu	37	chr1	26349783	26349783	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggggctcctggccagctgCggcaacacagcccccagccc	6	4	13	18	1	0	0	0	0	0	0	1	0	1	0	5	4	5	3	5	4	1	0			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr1:26349783C>T	ENST00000374280.3	+	1	1513	c.646C>T	c.(646-648)Cgg>Tgg	p.R216W	EXTL1_ENST00000484339.1_3'UTR	NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	216					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		TGGCCAGCTGCGGCAACACAG	0.697													4	20					0	0	1	0	0	T	26349783	C	T	26349783	3	4	194	1	0	0	0	0	1	0	0	0	5353	759	27	1	648	1	EXTL1	1	26349783	Missense_Mutation	SNP	C	TCGA-HC-8257-01A-11D-2260-08		26349783	222900838	1	9055											
PDZK1IP1	10158	broad.mit.edu	37	chr1	47650744	47650744	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatctgccttgtttccgaCggtcaggatcatgtgtgcag	6	13	11	11	2	3	0	2	0	1	0	5	2	5	1	3	2	2	2	3	2	0	2	rs35912227	byFrequency	TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr1:47650744C>T	ENST00000294338.2	-	3	324	c.202G>A	c.(202-204)Gtc>Atc	p.V68I	PDZK1IP1_ENST00000371885.1_Missense_Mutation_p.V68I|PDZK1IP1_ENST00000491793.1_5'UTR	NM_005764.3	NP_005755.1	Q13113	PDZ1I_HUMAN	PDZK1 interacting protein 1	68						integral to membrane				endometrium(1)|lung(1)|prostate(1)	3						TTGTTTCCGACGGTCAGGATC	0.617													3	89					0	0	1	0	0	T	47650744	C	T	47650744	3	4	194	1	0	0	0	0	1	0	0	0	11755	536	19	1	150	1	PDZK1IP1	1	47650744	Missense_Mutation	SNP	C	TCGA-HC-8257-01A-11D-2260-08	21300961	47650744	201599877	2	9056											
FAM72B	653820	broad.mit.edu	37	chr1	120846050	120846050	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagttcctgtcttccttccTgcaacaacggacacttctgg	7	13	8	13	1	2	0	0	0	2	0	5	1	5	1	3	2	3	3	3	2	3	5			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr1:120846050T>A	ENST00000369390.3	+	3	1115	c.286T>A	c.(286-288)Tgc>Agc	p.C96S	FAM72B_ENST00000471903.2_3'UTR|FAM72B_ENST00000355228.4_Missense_Mutation_p.C56S	NM_001100910.1	NP_001094380.1	Q86X60	FA72B_HUMAN	family with sequence similarity 72, member B	96										large_intestine(1)|lung(2)	3	all_neural(166;0.181)	all_lung(203;7.27e-05)|Lung NSC(69;0.000389)|all_epithelial(167;0.068)		Lung(183;0.0327)|LUSC - Lung squamous cell carcinoma(189;0.19)		TCTTCCTTCCTGCAACAACGG	0.388													4	328					0	0	1	0	0	A	120846050	T	A	120846050	3	1	194	1	0	0	0	0	1	0	0	0	5650	1580	55	5	296	5	FAM72B	1	120846050	Missense_Mutation	SNP	T	TCGA-HC-8257-01A-11D-2260-08	73195306	120846050	128404571	3	9057											
CHRNB2	1141	broad.mit.edu	37	chr1	154542011	154542011	+	Frame_Shift_Del	DEL	C	C	-																															tcccgctacaacaagcttatCcgcccagccaccaatggctc																										TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr1:154542011delC	ENST00000368476.3	+	2	402	c.138delC	c.(136-138)atfs	p.I46fs		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	46					B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)	ACAAGCTTATCCGCCCAGCCA	0.597													17	34	---	---	---	---						-	154542011	C	-	154542011	7	5	194	1	0	1	0	1	0	0	0	0	3413	845	30	0	144	0	CHRNB2	1	154542011	Frame_Shift_Del	DEL	C	TCGA-HC-8257-01A-11D-2260-08	33695961	154542011	94708610	4	9058											
IFI16	3428	broad.mit.edu	37	chr1	158988436	158988436	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatatggggtatttatgctaCataaggtaagtcctcaaaat	14	14	8	5	0	1	0	1	0	0	0	2	0	2	0	1	3	2	3	1	3	9	8			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr1:158988436C>T	ENST00000295809.7	+	5	1222	c.967C>T	c.(967-969)Cat>Tat	p.H323Y	IFI16_ENST00000368131.4_Missense_Mutation_p.H323Y|IFI16_ENST00000340979.6_Missense_Mutation_p.H323Y|IFI16_ENST00000430894.2_Missense_Mutation_p.H271Y|IFI16_ENST00000368132.3_Missense_Mutation_p.H323Y|IFI16_ENST00000359709.3_Missense_Mutation_p.H267Y|IFI16_ENST00000448393.2_Missense_Mutation_p.H323Y			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	323	HIN-200 1.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					ATTTATGCTACATAAGGTAAG	0.338													16	15					0	0	1	0	0	T	158988436	C	T	158988436	3	4	194	1	0	0	0	0	1	0	0	0	7555	478	17	2	981	2	IFI16	1	158988436	Missense_Mutation	SNP	C	TCGA-HC-8257-01A-11D-2260-08	4446425	158988436	90262185	5	9059											
PTPRC	5788	broad.mit.edu	37	chr1	198719701	198719701	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gacttttggcagatgatcttCcaaagaaaagtcaaagttat	15	12	8	6	0	2	3	1	1	1	2	3	4	3	3	1	1	0	2	1	1	5	4			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr1:198719701C>T	ENST00000367376.2	+	29	3318	c.3147C>T	c.(3145-3147)ttC>ttT	p.F1049F	PTPRC_ENST00000442510.2_Silent_p.F1051F|PTPRC_ENST00000352140.3_Silent_p.F1001F|PTPRC_ENST00000348564.6_Silent_p.F890F|PTPRC_ENST00000594404.1_Silent_p.F888F	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1049	Tyrosine-protein phosphatase 2.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AGATGATCTTCCAAAGAAAAG	0.393													13	83					0	0	1	0	0	T	198719701	C	T	198719701	2	4	194	1	0	0	0	0	0	0	0	1	12849	854	30	2		2	PTPRC	1	198719701	Silent	SNP	C	TCGA-HC-8257-01A-11D-2260-08	39731265	198719701	50530920	6	9060											
OBSCN	84033	broad.mit.edu	37	chr1	228452055	228452055	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggagtacagctgcaaggcCggggatcagcggctgtcctt	7	7	17	10	2	1	0	1	0	0	0	2	2	2	2	2	6	4	4	2	6	2	2			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr1:228452055C>T	ENST00000570156.2	+	18	5450	c.5376C>T	c.(5374-5376)gcC>gcT	p.A1792A	OBSCN_ENST00000359599.6_Silent_p.A264A|OBSCN_ENST00000284548.11_Silent_p.A1608A|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Silent_p.A1608A	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	780	Fibronectin type-III 2.		R -> H (in a colorectal cancer sample; somatic mutation).		apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCTGCAAGGCCGGGGATCAGC	0.657													4	50					0	0	1	0	0	T	228452055	C	T	228452055	2	4	194	1	0	0	0	0	0	0	0	1	10860	639	23	1		1	OBSCN	1	228452055	Silent	SNP	C	TCGA-HC-8257-01A-11D-2260-08	29732354	228452055	20798566	7	9061											
OR2T2	401992	broad.mit.edu	37	chr1	248616338	248616338	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacatctgtatcactgtcccCaagatgctccaggacctcct	9	11	6	15	0	2	1	1	0	1	1	5	2	5	2	5	1	2	2	5	1	3	2	rs145622684		TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr1:248616338C>T	ENST00000342927.3	+	1	262	c.240C>T	c.(238-240)ccC>ccT	p.P80P		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCACTGTCCCCAAGATGCTCC	0.522													6	174					0	0	1	0	0	T	248616338	C	T	248616338	2	4	194	1	0	0	0	0	0	0	0	1	11068	581	21	2		2	OR2T2	1	248616338	Silent	SNP	C	TCGA-HC-8257-01A-11D-2260-08	20164283	248616338	634283	8	9062											
SH3BP5L	80851	broad.mit.edu	37	chr1	249118997	249118997	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctctcttggggacaatttGgcctcactgctgctgcttcc	4	14	9	14	0	2	0	1	0	1	0	5	1	4	1	3	3	3	3	3	3	1	3			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr1:249118997G>T	ENST00000366472.5	-	2	1367	c.138C>A	c.(136-138)gcC>gcA	p.A46A	SH3BP5L_ENST00000475978.1_5'UTR	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	46										endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GGGACAATTTGGCCTCACTGC	0.577													64	131					8.70598e-44	9.91143e-44	1	1	0	T	249118997	G	T	249118997	2	4	194	1	0	0	0	0	0	0	0	1	14302	1335	47	4		4	SH3BP5L	1	249118997	Silent	SNP	G	TCGA-HC-8257-01A-11D-2260-08	502659	249118997	131624	9	9063											
LTBP1	4052	broad.mit.edu	37	chr2	33567955	33567955	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgacagtcacgggttttgtGacaatacagctggctccttc	8	12	11	10	1	1	2	1	2	0	0	3	2	2	2	1	2	2	3	1	2	2	4			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr2:33567955G>A	ENST00000404816.2	+	25	4134	c.3781G>A	c.(3781-3783)Gac>Aac	p.D1261N	LTBP1_ENST00000407925.1_Missense_Mutation_p.D935N|LTBP1_ENST00000390003.4_Missense_Mutation_p.D936N|LTBP1_ENST00000404525.1_Missense_Mutation_p.D882N|LTBP1_ENST00000272273.5_Intron|LTBP1_ENST00000354476.3_Missense_Mutation_p.D1262N|LTBP1_ENST00000418533.2_Intron|LTBP1_ENST00000402934.1_Missense_Mutation_p.D882N			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1261	EGF-like 13; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CGGGTTTTGTGACAATACAGC	0.448													5	75					0	0	1	0	0	A	33567955	G	A	33567955	3	1	194	1	0	0	0	0	1	0	0	0	9118	1290	45	2	3934	2	LTBP1	2	33567955	Missense_Mutation	SNP	G	TCGA-HC-8257-01A-11D-2260-08		33567955	209631418	10	9064											
ACOXL	55289	broad.mit.edu	37	chr2	111562876	111562876	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagatggacagtaccattcGcctattaggaacaagagtgc	13	8	10	10	1	0	2	0	0	0	2	1	4	0	4	3	2	3	1	3	2	5	4	rs139248421	byFrequency	TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr2:111562876G>A	ENST00000389811.4	+	9	881	c.657G>A	c.(655-657)tcG>tcA	p.S219S	ACOXL_ENST00000439055.1_Silent_p.S219S|ACOXL_ENST00000340561.4_Silent_p.S219S			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	219				S -> L (in Ref. 3; AAH22268).	fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity	p.S219S(1)		kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						AGTACCATTCGCCTATTAGGA	0.493													3	88					0	0	1	0	0	A	111562876	G	A	111562876	2	1	194	1	0	0	0	0	0	0	0	1	161	1074	38	1		1	ACOXL	2	111562876	Silent	SNP	G	TCGA-HC-8257-01A-11D-2260-08	77994921	111562876	131636497	11	9065											
NCKAP5	344148	broad.mit.edu	37	chr2	133489328	133489328	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acctgaggaagctggtttggGgaggcggctctgaagaggcc	8	7	18	8	1	1	3	0	2	1	1	1	5	1	5	2	7	1	3	2	7	2	1			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr2:133489328G>A	ENST00000409261.1	-	17	5798	c.5425C>T	c.(5425-5427)Ccc>Tcc	p.P1809S	NCKAP5_ENST00000409213.1_Missense_Mutation_p.P490S|NCKAP5_ENST00000405974.3_Missense_Mutation_p.P490S|NCKAP5_ENST00000317721.6_Missense_Mutation_p.P1809S	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1809							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GCTGGTTTGGGGAGGCGGCTC	0.512													3	32					0	0	1	0	0	A	133489328	G	A	133489328	3	1	194	1	0	0	0	0	1	0	0	0	10270	1232	43	2	320	2	NCKAP5	2	133489328	Missense_Mutation	SNP	G	TCGA-HC-8257-01A-11D-2260-08	21926452	133489328	109710045	12	9066											
TTN	7273	broad.mit.edu	37	chr2	179516426	179516426	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagttcaggttttttggcaaCgacagcaggtgctttctttt	7	17	10	7	1	2	0	1	0	1	0	2	1	2	0	0	3	3	5	0	3	2	8			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr2:179516426C>T	ENST00000589042.1	-	206	39654	c.39430G>A	c.(39430-39432)Gtt>Att	p.V13144I	TTN_ENST00000342992.6_Missense_Mutation_p.V10710I|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.V11637I|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11497	Ig-like 87.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTTGGCAACGACAGCAGGT	0.398													9	12					0	0	1	0	0	T	179516426	C	T	179516426	3	4	194	1	0	0	0	0	1	0	0	0	16797	536	19	1	68469	1	TTN	2	179516426	Missense_Mutation	SNP	C	TCGA-HC-8257-01A-11D-2260-08	46027098	179516426	63682947	13	9067											
NRP2	8828	broad.mit.edu	37	chr2	206562279	206562279	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctttcagacccaccgtgcGgaggtcgtttgaattccaaa	9	11	9	12	3	2	2	1	1	1	1	4	3	3	3	3	2	1	1	3	2	2	3			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr2:206562279G>A	ENST00000360409.3	+	2	876	c.85G>A	c.(85-87)Gga>Aga	p.G29R	NRP2_ENST00000540178.1_Missense_Mutation_p.G29R|NRP2_ENST00000417189.1_Missense_Mutation_p.G29R|NRP2_ENST00000355117.4_Missense_Mutation_p.G29R|NRP2_ENST00000412873.2_Missense_Mutation_p.G29R|NRP2_ENST00000357118.4_Missense_Mutation_p.G29R|NRP2_ENST00000540841.1_Missense_Mutation_p.G29R|NRP2_ENST00000272849.3_Missense_Mutation_p.G29R|NRP2_ENST00000357785.5_Missense_Mutation_p.G29R	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	29	CUB 1.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	p.G29*(4)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CCCACCGTGCGGAGGTCGTTT	0.512													143	316					0	0	1	0	0	A	206562279	G	A	206562279	3	1	194	1	0	0	0	0	1	0	0	0	10709	1117	39	1	91	1	NRP2	2	206562279	Missense_Mutation	SNP	G	TCGA-HC-8257-01A-11D-2260-08	27045853	206562279	36637094	14	9068											
ZNF385D	79750	broad.mit.edu	37	chr3	21606147	21606147	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agaggaaccccgaatgtatgGtttattacagctttctgaat	12	13	9	7	1	1	2	0	1	1	1	1	4	1	3	2	2	3	3	2	2	6	5			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr3:21606147G>T	ENST00000281523.2	-	3	713	c.195C>A	c.(193-195)aaC>aaA	p.N65K	ZNF385D-AS1_ENST00000412369.1_RNA|ZNF385D_ENST00000494118.1_5'UTR	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	65						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						CGAATGTATGGTTTATTACAG	0.348													26	65					3.03874e-20	3.35622e-20	1	1	0	T	21606147	G	T	21606147	3	4	194	1	0	0	0	0	1	0	0	0	17935	1252	44	4	1016	4	ZNF385D	3	21606147	Missense_Mutation	SNP	G	TCGA-HC-8257-01A-11D-2260-08		21606147	176416283	15	9069											
PCBP4	57060	broad.mit.edu	37	chr3	51992215	51992215	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagggcatgggcttgaggccGatgaagttggagagggagat	11	7	19	4	1	0	4	0	2	0	2	0	7	0	4	1	5	0	3	1	5	2	2			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr3:51992215G>A	ENST00000461554.1	-	14	1405	c.1074C>T	c.(1072-1074)atC>atT	p.I358I	PCBP4_ENST00000395014.2_Silent_p.I379I|PCBP4_ENST00000428823.2_Silent_p.I315I|PCBP4_ENST00000395013.3_Silent_p.I198I|PCBP4_ENST00000484633.1_Silent_p.I315I|PCBP4_ENST00000355852.2_Silent_p.I358I|PCBP4_ENST00000322099.7_Silent_p.I358I|PCBP4_ENST00000471622.1_Intron	NM_001174100.1	NP_001167571.1	P57723	PCBP4_HUMAN	poly(rC) binding protein 4	358						cytoplasm|ribonucleoprotein complex	DNA binding|RNA binding			endometrium(2)|large_intestine(2)|lung(2)|prostate(1)|stomach(1)	8				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GCTTGAGGCCGATGAAGTTGG	0.662													3	137					0	0	1	0	0	A	51992215	G	A	51992215	2	1	194	1	0	0	0	0	0	0	0	1	11550	1048	37	1		1	PCBP4	3	51992215	Silent	SNP	G	TCGA-HC-8257-01A-11D-2260-08	30386068	51992215	146030215	16	9070											
CCDC66	285331	broad.mit.edu	37	chr3	56651182	56651182	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccaatgcagaatcacattGtggatcattaatggagaggg	14	9	11	7	0	2	2	2	0	0	2	2	4	2	3	1	3	1	1	1	3	3	2			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr3:56651182G>A	ENST00000394672.3	+	14	1956	c.1886G>A	c.(1885-1887)tGt>tAt	p.C629Y	CCDC66_ENST00000326595.7_Missense_Mutation_p.C595Y|CCDC66_ENST00000436465.2_Missense_Mutation_p.C629Y	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	629										breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		GAATCACATTGTGGATCATTA	0.299													9	37					0	0	1	0	0	A	56651182	G	A	56651182	3	1	194	1	0	0	0	0	1	0	0	0	2858	1377	48	2	1940	2	CCDC66	3	56651182	Missense_Mutation	SNP	G	TCGA-HC-8257-01A-11D-2260-08	4658967	56651182	141371248	17	9071											
SLC2A9	56606	broad.mit.edu	37	chr4	9982304	9982304	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacctgccccagagagccaCggatctccttgggtgagatc	8	8	11	14	1	2	2	1	1	1	2	4	5	2	3	5	2	2	0	5	2	0	1			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr4:9982304C>T	ENST00000506583.1	-	7	723	c.506G>A	c.(505-507)cGt>cAt	p.R169H	SLC2A9_ENST00000309065.3_Missense_Mutation_p.R169H|SLC2A9_ENST00000264784.3_Missense_Mutation_p.R198H			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	198					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						CAGAGAGCCACGGATCTCCTT	0.572													4	44					0	0	1	0	0	T	9982304	C	T	9982304	3	4	194	1	0	0	0	0	1	0	0	0	14607	536	19	1	1061	1	SLC2A9	4	9982304	Missense_Mutation	SNP	C	TCGA-HC-8257-01A-11D-2260-08		9982304	181171972	18	9072											
C4orf19	55286	broad.mit.edu	37	chr4	37592096	37592096	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcaacccttcctggaaggagGgggcaccaggaaacaggact	12	5	13	11	0	1	0	1	0	0	0	2	4	2	4	3	6	2	1	3	6	3	1			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr4:37592096G>T	ENST00000284437.6	+	3	597	c.419G>T	c.(418-420)gGg>gTg	p.G140V	C4orf19_ENST00000508175.1_Intron|C4orf19_ENST00000381980.4_Missense_Mutation_p.G140V	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN	chromosome 4 open reading frame 19	140										large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						CTGGAAGGAGGGGGCACCAGG	0.577													3	88					0.014758	0.014758	1	1	0	T	37592096	G	T	37592096	3	4	194	1	0	0	0	0	1	0	0	0	2268	1232	43	4	425	4	C4orf19	4	37592096	Missense_Mutation	SNP	G	TCGA-HC-8257-01A-11D-2260-08	27609792	37592096	153562180	19	9073											
FAM13A	10144	broad.mit.edu	37	chr4	89671667	89671667	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taagcgtagaaccgaggagaGagcatggggtcgctgtcttc	10	8	15	8	3	1	2	0	0	1	2	3	5	1	3	1	3	3	3	1	3	3	3			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr4:89671667G>C	ENST00000264344.5	-	15	2055	c.1848C>G	c.(1846-1848)ctC>ctG	p.L616L	FAM13A_ENST00000513837.1_Silent_p.L262L|FAM13A_ENST00000508369.1_Silent_p.L290L|FAM13A_ENST00000503556.1_Silent_p.L276L|FAM13A_ENST00000395002.2_Silent_p.L290L|FAM13A_ENST00000511976.1_Silent_p.L202L	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	616					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						ACCGAGGAGAGAGCATGGGGT	0.577													31	51					0	0	1	0	0	C	89671667	G	C	89671667	2	2	194	1	0	0	0	0	0	0	0	1	5482	929	33	4		4	FAM13A	4	89671667	Silent	SNP	G	TCGA-HC-8257-01A-11D-2260-08	52079571	89671667	101482609	20	9074											
CMYA5	202333	broad.mit.edu	37	chr5	79028525	79028525	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	attccaaaataacaactacaCctatagtgcttcattcagct	15	12	3	11	0	2	0	2	0	0	0	3	0	3	0	2	0	5	2	2	0	7	7			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr5:79028525C>T	ENST00000446378.2	+	2	3968	c.3937C>T	c.(3937-3939)Cct>Tct	p.P1313S		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1313						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AACAACTACACCTATAGTGCT	0.378													4	11					0	0	1	0	0	T	79028525	C	T	79028525	3	4	194	1	0	0	0	0	1	0	0	0	3613	507	18	2	3943	2	CMYA5	5	79028525	Missense_Mutation	SNP	C	TCGA-HC-8257-01A-11D-2260-08		79028525	101886735	21	9075											
VCAN	1462	broad.mit.edu	37	chr5	82849251	82849251	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaatactttgcccatcgaCgcacatgggatgcagctgaa	13	8	9	11	2	0	1	0	1	0	0	1	3	0	2	1	1	4	3	1	1	3	2			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr5:82849251C>T	ENST00000265077.3	+	11	10127	c.9562C>T	c.(9562-9564)Cgc>Tgc	p.R3188C	VCAN_ENST00000343200.5_Missense_Mutation_p.R2201C|VCAN_ENST00000342785.4_Missense_Mutation_p.R1434C|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000513899.1_RNA|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Missense_Mutation_p.R1386C|VCAN_ENST00000502527.2_Missense_Mutation_p.R447C	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3188	C-type lectin.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TGCCCATCGACGCACATGGGA	0.483													31	174					0	0	1	0	0	T	82849251	C	T	82849251	3	4	194	1	0	0	0	0	1	0	0	0	17198	536	19	1	9600	1	VCAN	5	82849251	Missense_Mutation	SNP	C	TCGA-HC-8257-01A-11D-2260-08	3820726	82849251	98066009	22	9076											
ST8SIA4	7903	broad.mit.edu	37	chr5	100231395	100231395	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggaattgattttccaacCttctacattgtgctggaaga	12	13	9	7	0	1	3	0	1	1	2	2	5	2	5	2	2	3	1	2	2	4	6			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr5:100231395C>G	ENST00000231461.5	-	2	518	c.208G>C	c.(208-210)Ggt>Cgt	p.G70R	ST8SIA4_ENST00000451528.2_Missense_Mutation_p.G70R	NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	70					axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		ATTTTCCAACCTTCTACATTG	0.388													17	42					0	0	1	0	0	G	100231395	C	G	100231395	3	3	194	1	0	0	0	0	1	0	0	0	15290	681	24	4	891	4	ST8SIA4	5	100231395	Missense_Mutation	SNP	C	TCGA-HC-8257-01A-11D-2260-08	17382144	100231395	80683865	23	9077											
ATXN1	6310	broad.mit.edu	37	chr6	16328224	16328224	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtccctggctgcggggtggcGtacgcggcaggcagcgtggt	3	7	20	11	5	0	0	0	0	0	0	1	0	1	0	1	7	3	4	1	7	1	1			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr6:16328224G>A	ENST00000244769.4	-	8	1254	c.318C>T	c.(316-318)taC>taT	p.Y106Y	ATXN1_ENST00000436367.1_Silent_p.Y106Y	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	106					cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				GCGGGGTGGCGTACGCGGCAG	0.637													4	82					0	0	1	0	0	A	16328224	G	A	16328224	2	1	194	1	0	0	0	0	0	0	0	1	1207	1140	40	1		1	ATXN1	6	16328224	Silent	SNP	G	TCGA-HC-8257-01A-11D-2260-08		16328224	154786843	24	9078											
FAM8A1	51439	broad.mit.edu	37	chr6	17608511	17608511	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgctgttttttcagcataatCgaacagcttatgacattgta	11	16	7	7	1	1	1	1	1	0	0	2	2	1	1	0	0	4	5	0	0	4	7	rs117928010	by1000genomes	TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr6:17608511C>T	ENST00000259963.3	+	5	1238	c.1183C>T	c.(1183-1185)Cga>Tga	p.R395*		NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	395	RDD.					integral to membrane				endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			TCAGCATAATCGAACAGCTTA	0.383													5	76					0	0	1	0	0	T	17608511	C	T	17608511	4	4	194	1	0	0	0	0	0	1	0	0	5680	876	31	1	1201	1	FAM8A1	6	17608511	Nonsense_Mutation	SNP	C	TCGA-HC-8257-01A-11D-2260-08	1280287	17608511	153506556	25	9079											
GNL1	2794	broad.mit.edu	37	chr6	30520936	30520936	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgagtccatcctctcccccGcctccgactcttcttcaaga	6	10	5	20	3	4	1	1	0	3	1	8	3	7	1	7	0	0	0	7	0	1	2			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr6:30520936G>T	ENST00000376621.3	-	7	1799	c.829C>A	c.(829-831)Cgg>Agg	p.R277R		NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	277					response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						CCTCTCCCCCGCCTCCGACTC	0.602													7	150					0.00307968	0.00312187	1	1	0	T	30520936	G	T	30520936	2	4	194	1	0	0	0	0	0	0	0	1	6577	1086	38	4		4	GNL1	6	30520936	Silent	SNP	G	TCGA-HC-8257-01A-11D-2260-08	12912425	30520936	140594131	26	9080											
RING1	6015	broad.mit.edu	37	chr6	33177793	33177793	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctaagatctatcctagccGggaggaatacgaggcccatc	11	8	10	12	2	2	1	0	0	2	1	4	4	3	3	3	3	2	0	3	3	5	4			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr6:33177793G>A	ENST00000374656.4	+	4	549	c.341G>A	c.(340-342)cGg>cAg	p.R114Q	RING1_ENST00000478431.1_3'UTR	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	114	Necessary for transcriptional repression (By similarity).				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|PcG protein complex	protein binding|zinc ion binding			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						TATCCTAGCCGGGAGGAATAC	0.567													4	50					0	0	1	0	0	A	33177793	G	A	33177793	3	1	194	1	0	0	0	0	1	0	0	0	13426	1116	39	1	351	1	RING1	6	33177793	Missense_Mutation	SNP	G	TCGA-HC-8257-01A-11D-2260-08	2656857	33177793	137937274	27	9081											
MTBP	27085	broad.mit.edu	37	chr8	121519023	121519023	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggactcaatcacattgttggAtgctaaagaattgctgaagt	13	12	10	6	0	2	2	2	1	0	1	2	4	2	4	0	2	2	3	0	2	5	4			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr8:121519023A>T	ENST00000305949.1	+	16	1850	c.1805A>T	c.(1804-1806)gAt>gTt	p.D602V		NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	602	Interaction with MDM2 (By similarity).				cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			ACATTGTTGGATGCTAAAGAA	0.398													18	56					0	0	1	0	0	T	121519023	A	T	121519023	3	4	194	1	0	0	0	0	1	0	0	0	9960	333	12	5	1867	5	MTBP	8	121519023	Missense_Mutation	SNP	A	TCGA-HC-8257-01A-11D-2260-08		121519023	24844999	28	9082											
TG	7038	broad.mit.edu	37	chr8	134026000	134026000	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaggccacccacatctacCggaagccaggtaagcccaag	14	3	10	14	1	1	1	0	0	1	1	1	2	1	2	5	3	3	1	5	3	5	2			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr8:134026000C>T	ENST00000220616.4	+	37	6593	c.6553C>T	c.(6553-6555)Cgg>Tgg	p.R2185W	TG_ENST00000519543.1_Missense_Mutation_p.R318W|TG_ENST00000542445.1_Missense_Mutation_p.R555W|TG_ENST00000522523.1_3'UTR|TG_ENST00000377869.1_Missense_Mutation_p.R2128W	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2185					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CCACATCTACCGGAAGCCAGG	0.517													6	22					0	0	1	0	0	T	134026000	C	T	134026000	3	4	194	1	0	0	0	0	1	0	0	0	15873	643	23	1	6699	1	TG	8	134026000	Missense_Mutation	SNP	C	TCGA-HC-8257-01A-11D-2260-08	12506977	134026000	12338022	29	9083											
FKTN	2218	broad.mit.edu	37	chr9	108397472	108397472	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagacgtgggactggaagcGctctcctcccaatgtgcaac	11	7	11	12	2	1	1	0	0	1	1	3	3	2	3	2	2	3	2	2	2	4	0	rs139291792		TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr9:108397472G>A	ENST00000223528.2	+	10	1437	c.1313G>A	c.(1312-1314)cGc>cAc	p.R438H	FKTN_ENST00000540160.1_3'UTR|FKTN_ENST00000602661.1_Missense_Mutation_p.R438H|FKTN_ENST00000448551.2_Intron|FKTN_ENST00000357998.5_Intron	NM_006731.2	NP_006722.2	O75072	FKTN_HUMAN	fukutin	438					muscle organ development|negative regulation of cell proliferation|negative regulation of JNK cascade|nervous system development|regulation of protein glycosylation	cis-Golgi network|endoplasmic reticulum|extracellular space|Golgi membrane|integral to membrane|nucleus	transferase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						GACTGGAAGCGCTCTCCTCCC	0.453													31	53					0	0	1	0	0	A	108397472	G	A	108397472	3	1	194	1	0	0	0	0	1	0	0	0	5952	1087	38	1	1347	1	FKTN	9	108397472	Missense_Mutation	SNP	G	TCGA-HC-8257-01A-11D-2260-08		108397472	32815959	30	9084											
C9orf84	158401	broad.mit.edu	37	chr9	114468873	114468873	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaactgtgtctggaagaatCactttaaaggccatgtaagg	15	10	10	6	0	2	1	1	0	1	1	2	2	2	2	1	3	1	1	1	3	7	3			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr9:114468873C>A	ENST00000394779.3	-	16	2647	c.2403G>T	c.(2401-2403)gtG>gtT	p.V801V	C9orf84_ENST00000394777.4_Silent_p.V766V|C9orf84_ENST00000374287.3_Silent_p.V840V|C9orf84_ENST00000318737.4_Silent_p.V840V	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	840										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CTGGAAGAATCACTTTAAAGG	0.299													39	71					6.68952e-21	7.50037e-21	1	1	0	A	114468873	C	A	114468873	2	1	194	1	0	0	0	0	0	0	0	1	2518	813	29	4		4	C9orf84	9	114468873	Silent	SNP	C	TCGA-HC-8257-01A-11D-2260-08	6071401	114468873	26744558	31	9085											
GAD2	2572	broad.mit.edu	37	chr10	26506583	26506583	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaagttcacgggcggcatcGgaaacaaactgtgcggtgag	12	6	15	8	4	1	2	1	1	0	1	2	3	1	3	0	4	3	2	0	4	3	1			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr10:26506583G>A	ENST00000376261.3	+	2	624	c.121G>A	c.(121-123)Gga>Aga	p.G41R	GAD2_ENST00000259271.3_Missense_Mutation_p.G41R	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	41					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	GGGCGGCATCGGAAACAAACT	0.632													3	27					0	0	1	0	0	A	26506583	G	A	26506583	3	1	194	1	0	0	0	0	1	0	0	0	6215	1117	39	1	127	1	GAD2	10	26506583	Missense_Mutation	SNP	G	TCGA-HC-8257-01A-11D-2260-08		26506583	109028164	32	9086											
CDH23	64072	broad.mit.edu	37	chr10	73553231	73553231	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaccccatccagacagtgagCgtgctggagtcggctgagcc	9	6	13	13	2	0	3	0	2	0	1	2	4	1	4	4	2	4	2	4	2	1	0			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr10:73553231C>T	ENST00000224721.6	+	47	6566	c.6561C>T	c.(6559-6561)agC>agT	p.S2187S		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2182	Cadherin 21.			EFLNPIQTVSVLESAEPGTVIANITAIDHDLNPKLEYHIVG IVAKDDTDRLVPNQEDAFAVNIN -> ASWEGQSHVTQAYE EAVGPPQPQVPDSTGDRHPLWGLGGFGQEHPWEGQILGGSS QAEPGLVWS (in Ref. 6; BAB61902).	calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						AGACAGTGAGCGTGCTGGAGT	0.567													9	124					0	0	1	0	0	T	73553231	C	T	73553231	2	4	194	1	0	0	0	0	0	0	0	1	3130	767	27	1		1	CDH23	10	73553231	Silent	SNP	C	TCGA-HC-8257-01A-11D-2260-08	47046648	73553231	61981516	33	9087											
DNHD1	144132	broad.mit.edu	37	chr11	6592175	6592175	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgctggggccaaatgcacGgcggcctctggagggcgtct	6	7	17	11	3	2	0	0	0	2	0	2	1	2	1	2	6	2	2	2	6	1	0			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr11:6592175G>A	ENST00000254579.6	+	42	13997	c.13433G>A	c.(13432-13434)cGg>cAg	p.R4478Q	DNHD1_ENST00000527990.2_Missense_Mutation_p.R4478Q	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4478					microtubule-based movement	dynein complex	microtubule motor activity	p.R4478Q(1)		NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCAAATGCACGGCGGCCTCTG	0.612													17	41					0	0	1	0	0	A	6592175	G	A	6592175	3	1	194	1	0	0	0	0	1	0	0	0	4695	1116	39	1	13600	1	DNHD1	11	6592175	Missense_Mutation	SNP	G	TCGA-HC-8257-01A-11D-2260-08		6592175	128414341	34	9088											
MRGPRX2	117194	broad.mit.edu	37	chr11	19077806	19077806	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggagccagagcacaaacccGtttcctaccagcccgaccag	12	4	9	16	2	0	1	0	0	0	1	1	3	1	2	6	1	5	2	6	1	2	2			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr11:19077806G>A	ENST00000329773.2	-	2	231	c.144C>T	c.(142-144)aaC>aaT	p.N48N		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	48					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						GCACAAACCCGTTTCCTACCA	0.582													37	71					0	0	1	0	0	A	19077806	G	A	19077806	2	1	194	1	0	0	0	0	0	0	0	1	9816	1136	40	1		1	MRGPRX2	11	19077806	Silent	SNP	G	TCGA-HC-8257-01A-11D-2260-08	12485631	19077806	115928710	35	9089											
FNBP4	23360	broad.mit.edu	37	chr11	47744589	47744591	+	In_Frame_Del	DEL	GGA	GGA	-																															ttttgggagctggtggtggtGgaggaggaggaggaggaggt																										TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr11:47744589_47744591delGGA	ENST00000263773.5	-	15	2754_2756	c.2742_2744delTCC	c.(2740-2745)cca>cc	p.PP916del		NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	916	Pro-rich.							p.P914P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						tggtggtggtggaggaggaggag	0.458													2	4	---	---	---	---						-	47744591	GGA	-	47744589	7	5	194	1	0	1	0	1	0	0	0	0	6000	1348	47	0	321	0	FNBP4	11	47744589	In_Frame_Del	DEL	GGA	TCGA-HC-8257-01A-11D-2260-08	28666783	47744589	87261927	36	9090											
ARAP1	116985	broad.mit.edu	37	chr11	72420926	72420926	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagggtcacctgaagatgcgGtagggcgtggtgaggtcgaa	9	7	19	6	3	1	3	1	2	0	1	2	5	1	3	1	5	1	1	1	5	3	1			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr11:72420926G>A	ENST00000359373.5	-	11	2363	c.1512C>T	c.(1510-1512)taC>taT	p.Y504Y	ARAP1_ENST00000429686.1_Silent_p.Y259Y|ARAP1_ENST00000426523.1_Silent_p.Y259Y|ARAP1_ENST00000393605.3_Silent_p.Y264Y|ARAP1_ENST00000334211.8_Silent_p.Y259Y|ARAP1_ENST00000393609.3_Silent_p.Y504Y|ARAP1_ENST00000455638.2_Silent_p.Y504Y			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	504	PH 2.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						TGAAGATGCGGTAGGGCGTGG	0.577													4	174					0	0	1	0	0	A	72420926	G	A	72420926	2	1	194	1	0	0	0	0	0	0	0	1	835	1256	44	2		2	ARAP1	11	72420926	Silent	SNP	G	TCGA-HC-8257-01A-11D-2260-08	24676337	72420926	62585590	37	9091											
MTERFD3	80298	broad.mit.edu	37	chr12	107371603	107371603	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcattctctcttctaaaactGgaacagaataatataaaagg	17	11	6	7	0	3	1	0	0	3	1	4	2	3	2	0	2	2	1	0	2	8	6			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr12:107371603G>A	ENST00000552029.1	-	2	2958	c.890C>T	c.(889-891)cCa>cTa	p.P297L	MTERFD3_ENST00000392830.2_Missense_Mutation_p.P297L|MTERFD3_ENST00000240050.4_Missense_Mutation_p.P297L|C12orf23_ENST00000551237.1_Intron			Q49AM1	MTER3_HUMAN	MTERF domain containing 3	297					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	transcription regulatory region DNA binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						TTCTAAAACTGGAACAGAATA	0.348													23	49					0	0	1	0	0	A	107371603	G	A	107371603	3	1	194	1	0	0	0	0	1	0	0	0	9969	1348	47	2	271	2	MTERFD3	12	107371603	Missense_Mutation	SNP	G	TCGA-HC-8257-01A-11D-2260-08		107371603	26480292	38	9092											
KCNRG	0	broad.mit.edu	37	chr13	50594457	50594457	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcatttggtcagcactaGaacagtatcttctgaagaca	12	13	7	9	0	4	3	2	1	2	2	4	3	4	3	0	1	2	2	0	1	4	5			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr13:50594457G>T	ENST00000312942.1	+	2	926	c.686G>T	c.(685-687)aGa>aTa	p.R229I	TRIM13_ENST00000478111.1_3'UTR|KCNRG_ENST00000360473.4_3'UTR	NM_173605.1	NP_775876.1	Q8N5I3	KCNRG_HUMAN	potassium channel regulator	229						voltage-gated potassium channel complex	identical protein binding|voltage-gated potassium channel activity			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204)		GTCAGCACTAGAACAGTATCT	0.388													11	23					5.01169e-05	5.22346e-05	1	1	0	T	50594457	G	T	50594457	3	4	194	1	0	0	0	0	1	0	0	0	8131	942	33	4	794	4	KCNRG	13	50594457	Missense_Mutation	SNP	G	TCGA-HC-8257-01A-11D-2260-08		50594457	64575421	39	9093											
ZNF219	0	broad.mit.edu	37	chr14	21559179	21559179	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggaaggaggcggtggctccGggggtggcccggggccggcc	3	3	24	11	4	0	0	0	0	0	0	1	2	1	2	4	11	0	1	4	11	1	0			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr14:21559179G>A	ENST00000360947.3	-	5	2096	c.1685C>T	c.(1684-1686)cCg>cTg	p.P562L	ZNF219_ENST00000451119.2_Missense_Mutation_p.P562L|ZNF219_ENST00000421093.2_Missense_Mutation_p.P562L|RP11-998D10.7_ENST00000554733.2_lincRNA	NM_016423.2	NP_057507.2	Q9P2Y4	ZN219_HUMAN	zinc finger protein 219	562					negative regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|histamine receptor activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2)	8	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)		CGGTGGCTCCGGGGGTGGCCC	0.736													7	6					0	0	1	0	0	A	21559179	G	A	21559179	3	1	194	1	0	0	0	0	1	0	0	0	17831	1116	39	1	487	1	ZNF219	14	21559179	Missense_Mutation	SNP	G	TCGA-HC-8257-01A-11D-2260-08		21559179	85790361	40	9094											
ADCY4	196883	broad.mit.edu	37	chr14	24795366	24795366	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catctagtccccggggggtaCggctcctgcacagtgagagc	7	7	14	13	2	1	1	0	1	1	1	3	2	3	1	3	4	3	3	3	4	2	2			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr14:24795366C>T	ENST00000310677.4	-	13	1687	c.1574G>A	c.(1573-1575)cGt>cAt	p.R525H	ADCY4_ENST00000396747.3_Missense_Mutation_p.R218H|ADCY4_ENST00000554068.2_Missense_Mutation_p.R525H|ADCY4_ENST00000418030.2_Missense_Mutation_p.R525H	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	525					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		CCGGGGGGTACGGCTCCTGCA	0.592													3	47					0	0	1	0	0	T	24795366	C	T	24795366	3	4	194	1	0	0	0	0	1	0	0	0	295	536	19	1	1715	1	ADCY4	14	24795366	Missense_Mutation	SNP	C	TCGA-HC-8257-01A-11D-2260-08	3236187	24795366	82554174	41	9095											
FLRT2	23768	broad.mit.edu	37	chr14	86089672	86089672	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	catcctggagatgacagaaaCcagttttcagatcgtctcct	11	11	8	11	1	2	4	1	1	1	3	5	5	3	4	3	1	1	1	3	1	1	2			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr14:86089672C>A	ENST00000330753.4	+	2	2581	c.1814C>A	c.(1813-1815)aCc>aAc	p.T605N	FLRT2_ENST00000554746.1_Missense_Mutation_p.T605N	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	605					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		ATGACAGAAACCAGTTTTCAG	0.473													4	160					1.23904e-05	1.30984e-05	1	1	0	A	86089672	C	A	86089672	3	1	194	1	0	0	0	0	1	0	0	0	5972	507	18	4	1816	4	FLRT2	14	86089672	Missense_Mutation	SNP	C	TCGA-HC-8257-01A-11D-2260-08	61294306	86089672	21259868	42	9096											
SNRPN	6638	broad.mit.edu	37	chr15	25221557	25221557	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtggaggggccacccccCaaagatgtaaggaagatgta	13	6	13	9	0	0	2	0	0	0	2	0	4	0	4	4	4	0	2	4	4	4	2			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr15:25221557C>A	ENST00000444203.2	+	4	1312	c.273C>A	c.(271-273)ccC>ccA	p.P91P	SNRPN_ENST00000390687.4_Silent_p.P87P|SNRPN_ENST00000577565.1_Silent_p.P87P|SNRPN_ENST00000346403.6_Silent_p.P87P|SNRPN_ENST00000400097.1_Silent_p.P87P|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000554227.2_Silent_p.P91P|SNRPN_ENST00000400100.1_Silent_p.P87P|SNRPN_ENST00000400098.1_Silent_p.P87P			P63162	RSMN_HUMAN	small nuclear ribonucleoprotein polypeptide N	87					RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		GGCCACCCCCCAAAGATGTAA	0.488									Prader-Willi syndrome				23	27					1.10923e-09	1.18961e-09	1	1	0	A	25221557	C	A	25221557	2	1	194	1	0	0	0	0	0	0	0	1	14924	581	21	4		4	SNRPN	15	25221557	Silent	SNP	C	TCGA-HC-8257-01A-11D-2260-08		25221557	77309835	43	9097											
CCNF	899	broad.mit.edu	37	chr16	2506639	2506639	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgatgaggaggcttgtcCagaggacaagggaccccagg	11	5	16	9	0	0	3	0	2	0	1	1	6	1	6	3	5	0	1	3	5	1	1			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr16:2506639C>T	ENST00000397066.4	+	17	2067	c.1979C>T	c.(1978-1980)cCa>cTa	p.P660L	RP11-715J22.4_ENST00000566085.1_lincRNA	NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	660	PEST.				cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				GAGGCTTGTCCAGAGGACAAG	0.632													5	38					0	0	1	0	0	T	2506639	C	T	2506639	3	4	194	1	0	0	0	0	1	0	0	0	2944	594	21	2	2045	2	CCNF	16	2506639	Missense_Mutation	SNP	C	TCGA-HC-8257-01A-11D-2260-08		2506639	87848114	44	9098											
C16orf70	80262	broad.mit.edu	37	chr16	67159901	67159901	+	Missense_Mutation	SNP	G	G	T																															tcattcttaacctgactcagGacgggatcaaactaatgttt																										TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr16:67159901G>T	ENST00000219139.3	+	3	375	c.187G>T	c.(187-189)Gac>Tac	p.D63Y	C16orf70_ENST00000569683.1_3'UTR|C16orf70_ENST00000569600.1_Missense_Mutation_p.D63Y	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	63										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		CCTGACTCAGGACGGGATCAA	0.378													32	81					1.96642e-18	2.13993e-18	1	1	0	T	67159901	G	T	67159901	3	4	194	1	0	0	0	0	1	0	0	0	1836	1174	41	4	197	4	C16orf70	16	67159901	Missense_Mutation	SNP	G	TCGA-HC-8257-01A-11D-2260-08	64653262	67159901	23194852	45	9099	48	2									
C16orf70	80262	broad.mit.edu	37	chr16	67159903	67159903	+	Silent	SNP	C	C	T																															attcttaacctgactcaggaCgggatcaaactaatgtttga																										TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr16:67159903C>T	ENST00000219139.3	+	3	377	c.189C>T	c.(187-189)gaC>gaT	p.D63D	C16orf70_ENST00000569683.1_3'UTR|C16orf70_ENST00000569600.1_Silent_p.D63D	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	63										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		TGACTCAGGACGGGATCAAAC	0.378													32	80					0	0	1	0	0	T	67159903	C	T	67159903	2	4	194	1	0	0	0	0	0	0	0	1	1836	535	19	1		1	C16orf70	16	67159903	Silent	SNP	C	TCGA-HC-8257-01A-11D-2260-08	2	67159903	23194850	46	9100	48	2									
DUS2L	0	broad.mit.edu	37	chr16	68104843	68104843	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accctctggttgctttttagCggaggatctcatgaccacat	8	13	9	11	1	2	1	1	1	2	0	3	3	2	3	2	3	2	2	2	3	1	4			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr16:68104843C>T	ENST00000565263.1	+	12	1136	c.641_splice	c.e12-1	p.N214_splice	DUS2L_ENST00000432752.1_Splice_Site_p.N179_splice|DUS2L_ENST00000358896.6_Splice_Site_p.N214_splice	NM_017803.3	NP_060273.1	Q9NX74	DUS2L_HUMAN		214					tRNA processing	endoplasmic reticulum	double-stranded RNA binding|flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|stomach(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0131)|Epithelial(162;0.0564)		TGCTTTTTAGCGGAGGATCTC	0.507													17	41					0	0	1	0	0	T	68104843	C	T	68104843	5	4	194	1	0	0	0	0	0	0	1	0	4832	782	27	1	680	1	DUS2L	16	68104843	Splice_Site	SNP	C	TCGA-HC-8257-01A-11D-2260-08	944940	68104843	22249910	47	9101											
SNAI3	333929	broad.mit.edu	37	chr16	88747582	88747582	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgcaggtgcagggcagcGtgtgagtgcggatgtgcatc	6	10	17	8	2	1	1	0	1	1	0	2	2	1	2	0	3	5	4	0	3	0	1	rs139790709		TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr16:88747582G>A	ENST00000332281.5	-	2	703	c.617C>T	c.(616-618)aCg>aTg	p.T206M	SNAI3-AS1_ENST00000563261.1_RNA	NM_178310.3	NP_840101.1	Q3KNW1	SNAI3_HUMAN	snail family zinc finger 3	206					oxidation-reduction process		copper ion binding|DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|kidney(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(80;0.048)		GCAGGGCAGCGTGTGAGTGCG	0.612													16	168					0	0	1	0	0	A	88747582	G	A	88747582	3	1	194	1	0	0	0	0	1	0	0	0	14882	1145	40	1	269	1	SNAI3	16	88747582	Missense_Mutation	SNP	G	TCGA-HC-8257-01A-11D-2260-08	20642739	88747582	1607171	48	9102											
ITGAE	3682	broad.mit.edu	37	chr17	3649106	3649106	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctcacaaagctgggatccGctgctccactccctcaggca	8	8	8	17	1	2	0	2	0	0	0	6	1	6	1	4	2	2	4	4	2	1	0			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr17:3649106G>A	ENST00000263087.4	-	18	2369	c.2271C>T	c.(2269-2271)agC>agT	p.S757S		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	757					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		GCTGGGATCCGCTGCTCCACT	0.557													38	51					0	0	1	0	0	A	3649106	G	A	3649106	2	1	194	1	0	0	0	0	0	0	0	1	7929	1078	38	1		1	ITGAE	17	3649106	Silent	SNP	G	TCGA-HC-8257-01A-11D-2260-08		3649106	77546104	49	9103											
TMEM102	284114	broad.mit.edu	37	chr17	7340329	7340329	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggtccgctggcctctgagtCggcttccttctacctggtgc	2	12	12	15	3	2	1	0	1	2	0	5	1	4	1	4	4	2	2	4	4	1	3			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr17:7340329C>T	ENST00000323206.1	+	3	1304	c.1031C>T	c.(1030-1032)tCg>tTg	p.S344L	TMEM102_ENST00000396568.1_Missense_Mutation_p.S344L|RP11-104H15.9_ENST00000570444.1_RNA|RP11-104H15.7_ENST00000575310.1_RNA	NM_178518.2	NP_848613.1	Q8N9M5	TM102_HUMAN	transmembrane protein 102	344					regulation of apoptosis|response to cytokine stimulus|signal transduction	cell surface|integral to membrane|intracellular	protein binding			kidney(1)|lung(3)|skin(1)	5		Prostate(122;0.173)				GCCTCTGAGTCGGCTTCCTTC	0.726													6	6					0	0	1	0	0	T	7340329	C	T	7340329	3	4	194	1	0	0	0	0	1	0	0	0	16077	893	31	1	1037	1	TMEM102	17	7340329	Missense_Mutation	SNP	C	TCGA-HC-8257-01A-11D-2260-08	3691223	7340329	73854881	50	9104											
STAC2	342667	broad.mit.edu	37	chr17	37369333	37369333	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacattctcgcctggcctcAcccgttgcacaaaattagct	11	10	6	14	2	2	0	1	0	1	0	3	0	2	0	3	1	3	3	3	1	4	3			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr17:37369333A>T	ENST00000333461.5	-	10	1415	c.1046T>A	c.(1045-1047)gTg>gAg	p.V349E		NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN	SH3 and cysteine rich domain 2	349	SH3.				intracellular signal transduction		metal ion binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						GCCTGGCCTCACCCGTTGCAC	0.602													4	85					0	0	1	0	0	T	37369333	A	T	37369333	3	4	194	1	0	0	0	0	1	0	0	0	15296	159	6	5	197	5	STAC2	17	37369333	Missense_Mutation	SNP	A	TCGA-HC-8257-01A-11D-2260-08	30029004	37369333	43825877	51	9105											
JUP	3728	broad.mit.edu	37	chr17	39914695	39914695	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagccggaagatctccatgcGgttcatggggtcccgggcga	7	7	16	11	4	2	1	1	0	1	1	4	4	3	2	3	5	2	1	3	5	1	1			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr17:39914695G>A	ENST00000393931.3	-	10	1847	c.1729C>T	c.(1729-1731)Cgc>Tgc	p.R577C	JUP_ENST00000540235.1_Intron|JUP_ENST00000310706.5_Missense_Mutation_p.R577C|JUP_ENST00000393930.1_Missense_Mutation_p.R577C	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	577					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		ATCTCCATGCGGTTCATGGGG	0.617													4	116					0	0	1	0	0	A	39914695	G	A	39914695	3	1	194	1	0	0	0	0	1	0	0	0	8016	1116	39	1	528	1	JUP	17	39914695	Missense_Mutation	SNP	G	TCGA-HC-8257-01A-11D-2260-08	2545362	39914695	41280515	52	9106											
EPX	8288	broad.mit.edu	37	chr17	56274484	56274484	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgcggctccgcaaccggaCcaactacctggggctgctgg	6	6	14	15	3	0	0	0	0	0	0	1	1	1	1	4	5	5	5	4	5	3	1			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr17:56274484C>T	ENST00000225371.5	+	7	1096	c.986C>T	c.(985-987)aCc>aTc	p.T329I		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	329					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						CGCAACCGGACCAACTACCTG	0.622													51	87					0	0	1	0	0	T	56274484	C	T	56274484	3	4	194	1	0	0	0	0	1	0	0	0	5228	507	18	2	1012	2	EPX	17	56274484	Missense_Mutation	SNP	C	TCGA-HC-8257-01A-11D-2260-08	16359789	56274484	24920726	53	9107											
C17orf70	80233	broad.mit.edu	37	chr17	79514376	79514376	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggggtagcgtcacctcccGccgagcaccggggccgagct	6	4	15	16	5	1	0	1	0	0	0	2	2	2	0	5	4	3	3	5	4	1	1			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr17:79514376G>A	ENST00000537152.1	-	5	1804	c.1279C>T	c.(1279-1281)Cgg>Tgg	p.R427W	C17orf70_ENST00000327787.8_Missense_Mutation_p.R578W|C17orf70_ENST00000425898.2_Missense_Mutation_p.R227W	NM_025161.5	NP_079437.5	Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	578					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			GTCACCTCCCGCCGAGCACCG	0.682													3	76					0	0	1	0	0	A	79514376	G	A	79514376	3	1	194	1	0	0	0	0	1	0	0	0	1886	1086	38	1	933	1	C17orf70	17	79514376	Missense_Mutation	SNP	G	TCGA-HC-8257-01A-11D-2260-08	23239892	79514376	1680834	54	9108											
ZNF407	55628	broad.mit.edu	37	chr18	72343683	72343683	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctacatatgcatatcaaacaAgcacatgggccacagaaggt	16	7	8	10	0	1	1	1	0	0	1	1	1	1	1	1	2	4	2	1	2	6	3			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr18:72343683A>T	ENST00000299687.5	+	1	708	c.708A>T	c.(706-708)caA>caT	p.Q236H	ZNF407_ENST00000309902.6_Missense_Mutation_p.Q236H|ZNF407_ENST00000582337.1_Missense_Mutation_p.Q236H|ZNF407_ENST00000577538.1_Missense_Mutation_p.Q236H	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	236					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		ATATCAAACAAGCACATGGGC	0.443													31	76					0	0	1	0	0	T	72343683	A	T	72343683	3	4	194	1	0	0	0	0	1	0	0	0	17944	69	3	5	710	5	ZNF407	18	72343683	Missense_Mutation	SNP	A	TCGA-HC-8257-01A-11D-2260-08		72343683	5733565	55	9109											
AKAP8	10270	broad.mit.edu	37	chr19	15471682	15471682	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggttgtgattgtggtccaCggagtgcaggtgccgctgga	5	10	18	8	3	0	1	0	1	0	0	1	3	1	3	2	5	2	3	2	5	0	2			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr19:15471682C>T	ENST00000269701.2	-	12	1564	c.1504G>A	c.(1504-1506)Gtg>Atg	p.V502M		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	502					signal transduction	nuclear matrix				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						TTGTGGTCCACGGAGTGCAGG	0.607													9	22					0	0	1	0	0	T	15471682	C	T	15471682	3	4	194	1	0	0	0	0	1	0	0	0	454	536	19	1	586	1	AKAP8	19	15471682	Missense_Mutation	SNP	C	TCGA-HC-8257-01A-11D-2260-08		15471682	43657301	56	9110											
PSG6	5675	broad.mit.edu	37	chr19	43411267	43411267	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccgcaaagcaggacaagtcGaggttttctcctgaacggta	11	9	11	10	3	1	1	0	1	1	0	4	3	2	2	2	3	2	4	2	3	4	3			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr19:43411267G>A	ENST00000187910.2	-	5	1112	c.1047C>T	c.(1045-1047)ctC>ctT	p.L349L	PSG6_ENST00000402603.4_Silent_p.L256L|PSG6_ENST00000292125.2_Silent_p.L349L	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				AGGACAAGTCGAGGTTTTCTC	0.463													32	175					0	0	1	0	0	A	43411267	G	A	43411267	2	1	194	1	0	0	0	0	0	0	0	1	12708	1045	37	1		1	PSG6	19	43411267	Silent	SNP	G	TCGA-HC-8257-01A-11D-2260-08	27939585	43411267	15717716	57	9111											
FUT2	2524	broad.mit.edu	37	chr19	49207086	49207086	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcatgaccattgggacgttCgggatctgggccgcatacct	8	10	12	11	3	2	1	1	1	1	0	3	3	2	3	3	3	1	2	3	3	1	3			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr19:49207086C>T	ENST00000425340.2	+	2	990	c.873C>T	c.(871-873)ttC>ttT	p.F291F	FUT2_ENST00000391876.4_Silent_p.F291F	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN	fucosyltransferase 2 (secretor status included)	291					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	galactoside 2-alpha-L-fucosyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		TTGGGACGTTCGGGATCTGGG	0.542													25	184					0	0	1	0	0	T	49207086	C	T	49207086	2	4	194	1	0	0	0	0	0	0	0	1	6139	883	31	1		1	FUT2	19	49207086	Silent	SNP	C	TCGA-HC-8257-01A-11D-2260-08	5795819	49207086	9921897	58	9112											
TRPM4	54795	broad.mit.edu	37	chr19	49713988	49713988	+	Frame_Shift_Del	DEL	C	C	-																															ggtttacctttctaaggaagCcgagcggaagctgctaacgt																										TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr19:49713988delC	ENST00000252826.5	+	22	3476	c.3350delC	c.(3349-3351)gcfs	p.A1117fs	TRPM4_ENST00000427978.2_Frame_Shift_Del_p.A972fs|TRPM4_ENST00000355712.5_Frame_Shift_Del_p.A763fs	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	1117	Calmodulin-binding.				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		TCTAAGGAAGCCGAGCGGAAG	0.622													23	41	---	---	---	---						-	49713988	C	-	49713988	7	5	194	1	0	1	0	1	0	0	0	0	16649	739	26	0	3436	0	TRPM4	19	49713988	Frame_Shift_Del	DEL	C	TCGA-HC-8257-01A-11D-2260-08	506902	49713988	9414995	59	9113											
LAIR1	3903	broad.mit.edu	37	chr19	54872628	54872628	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcacttactgagtcaatgcGgaatctggcctctgactcag	9	12	9	11	1	5	2	3	2	2	0	5	3	5	3	1	2	2	0	1	2	3	2			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr19:54872628G>A	ENST00000391743.3	-	2	485	c.205C>T	c.(205-207)Cgc>Tgc	p.R69C	LAIR1_ENST00000463489.1_5'UTR|LAIR1_ENST00000348231.4_Missense_Mutation_p.R87C|LAIR1_ENST00000391742.2_Missense_Mutation_p.R87C|LAIR1_ENST00000434277.2_Missense_Mutation_p.R86C|LAIR1_ENST00000313038.6_Missense_Mutation_p.R80C|LAIR1_ENST00000474878.1_Missense_Mutation_p.R86C			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1	87	Ig-like C2-type.					integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		GAGTCAATGCGGAATCTGGCC	0.493													77	154					0	0	1	0	0	A	54872628	G	A	54872628	3	1	194	1	0	0	0	0	1	0	0	0	8641	1116	39	1	636	1	LAIR1	19	54872628	Missense_Mutation	SNP	G	TCGA-HC-8257-01A-11D-2260-08	5158640	54872628	4256355	60	9114											
KIF16B	55614	broad.mit.edu	37	chr20	16409611	16409611	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcaccaatatcttgctcCgtggaagcatcgtctctacc	8	12	7	14	2	3	0	1	0	2	0	6	1	4	1	3	1	4	3	3	1	4	3			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr20:16409611C>T	ENST00000354981.2	-	14	1618	c.1461G>A	c.(1459-1461)acG>acA	p.T487T	KIF16B_ENST00000408042.1_Silent_p.T487T|KIF16B_ENST00000355755.3_Silent_p.T487T|KIF16B_ENST00000378003.2_5'UTR	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	487	FHA.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TATCTTGCTCCGTGGAAGCAT	0.378													6	91					0	0	1	0	0	T	16409611	C	T	16409611	2	4	194	1	0	0	0	0	0	0	0	1	8320	639	23	1		1	KIF16B	20	16409611	Silent	SNP	C	TCGA-HC-8257-01A-11D-2260-08		16409611	46615909	61	9115											
KCNG1	3755	broad.mit.edu	37	chr20	49626294	49626294	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggccgggccctcgctgtcGcggccctcgctgtccagcgc	1	7	14	19	7	0	0	0	0	0	0	5	0	1	0	4	3	1	2	4	3	0	0			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr20:49626294G>A	ENST00000371571.4	-	2	867	c.582C>T	c.(580-582)cgC>cgT	p.R194R	KCNG1_ENST00000396017.3_Silent_p.R194R|RP5-955M13.4_ENST00000424566.1_RNA	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	194						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						CCTCGCTGTCGCGGCCCTCGC	0.716													3	34					0	0	1	0	0	A	49626294	G	A	49626294	2	1	194	1	0	0	0	0	0	0	0	1	8071	1074	38	1		1	KCNG1	20	49626294	Silent	SNP	G	TCGA-HC-8257-01A-11D-2260-08	33216683	49626294	13399226	62	9116											
MLC1	23209	broad.mit.edu	37	chr22	50512646	50512646	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggccagaggggttactcacgGccactaggatccaaaagaac	13	5	12	11	1	1	2	1	0	0	2	2	3	2	3	3	5	2	1	3	5	5	2			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chr22:50512646G>A	ENST00000311597.5	-	8	1319	c.714_splice	c.e8+1	p.A238_splice	MLC1_ENST00000431262.2_Splice_Site_p.A208_splice|MLC1_ENST00000535444.1_Splice_Site_p.A159_splice|MLC1_ENST00000395876.2_Splice_Site_p.A238_splice|MLC1_ENST00000538737.1_Splice_Site_p.A204_splice|MLC1_ENST00000450140.2_Splice_Site_p.A186_splice	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with subcortical cysts 1	238						basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		GTTACTCACGGCCACTAGGAT	0.622													12	16					0	0	1	0	0	A	50512646	G	A	50512646	5	1	194	1	0	0	0	0	0	0	1	0	9660	1217	42	2	440	2	MLC1	22	50512646	Splice_Site	SNP	G	TCGA-HC-8257-01A-11D-2260-08		50512646	791920	63	9117											
USP9X	8239	broad.mit.edu	37	chrX	40999970	40999970	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggttccagattttgcatgAtcgttttattaatggatcag	9	17	10	5	1	1	2	1	1	0	1	3	3	2	3	1	2	1	3	1	2	2	6			TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chrX:40999970A>G	ENST00000324545.7	+	7	1349	c.716A>G	c.(715-717)gAt>gGt	p.D239G	USP9X_ENST00000378308.2_Missense_Mutation_p.D239G	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	239					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ATTTTGCATGATCGTTTTATT	0.328													5	31					0	0	1	0	0	G	40999970	A	G	40999970	3	3	194	1	0	0	0	0	1	0	0	0	17150	333	12	3	738	3	USP9X	23	40999970	Missense_Mutation	SNP	A	TCGA-HC-8257-01A-11D-2260-08		40999970	114270590	64	9118											
SEPT6	23157	broad.mit.edu	37	chrX	118783981	118783981	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actccgttgctgacaagctcGctggtgattttgattttgaa	8	15	10	8	2	0	4	0	4	0	0	2	4	1	4	1	1	2	4	1	1	2	5	rs143380835		TCGA-HC-8257-01A-11D-2260-08	TCGA-HC-8257-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7373089-17c1-4809-b236-dec22225a3f0	1b6bdf28-2065-413f-b851-d6834173d5f0	g.chrX:118783981G>A	ENST00000394610.1	-	5	873	c.609C>T	c.(607-609)agC>agT	p.S203S	SEPT6_ENST00000354228.4_Silent_p.S203S|SEPT6_ENST00000354416.3_Silent_p.S203S|SEPT6_ENST00000489216.1_Silent_p.S203S|SEPT6_ENST00000394616.4_Silent_p.S145S|SEPT6_ENST00000394617.2_Silent_p.S233S|SEPT6_ENST00000343984.5_Silent_p.S203S|SEPT6_ENST00000360156.7_Silent_p.S203S	NM_145799.3	NP_665798.1	Q14141	SEPT6_HUMAN	septin 6	203					cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						TGACAAGCTCGCTGGTGATTT	0.473			T	MLL	AML								11	71					0	0	1	0	0	A	118783981	G	A	118783981	2	1	194	1	0	0	0	0	0	0	0	1	14122	1078	38	1		1	SEPT6	23	118783981	Silent	SNP	G	TCGA-HC-8257-01A-11D-2260-08	77784011	118783981	36486579	65	9119											
FLG	2312	broad.mit.edu	37	chr1	152285852	152285852	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggacgctgaatgcctggAgctgtctcgtgcctgctcgt	4	12	14	11	3	1	1	0	1	1	0	3	3	1	3	2	2	4	3	2	2	1	1			TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr1:152285852A>G	ENST00000368799.1	-	3	1545	c.1510T>C	c.(1510-1512)Tcc>Ccc	p.S504P	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	504	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAATGCCTGGAGCTGTCTCGT	0.607									Ichthyosis				28	648					0	0	1	0	0	G	152285852	A	G	152285852	3	3	195	1	0	0	0	0	1	0	0	0	5955	304	11	3	10679	3	FLG	1	152285852	Missense_Mutation	SNP	A	TCGA-HC-8258-01A-11D-2260-08		152285852	96964769	1	9120											
FLG2	388698	broad.mit.edu	37	chr1	152328035	152328035	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatgttgtccaaagccagAggactgacctgagcctgatc	10	8	10	13	0	0	4	0	3	0	1	2	5	1	5	5	1	2	1	5	1	1	1			TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr1:152328035A>C	ENST00000388718.5	-	3	2299	c.2227T>G	c.(2227-2229)Tct>Gct	p.S743A	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	743	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAAAGCCAGAGGACTGACCT	0.507													6	412					0	0	1	0	0	C	152328035	A	C	152328035	3	2	195	1	0	0	0	0	1	0	0	0	5956	304	11	5	4952	5	FLG2	1	152328035	Missense_Mutation	SNP	A	TCGA-HC-8258-01A-11D-2260-08	42183	152328035	96922586	2	9121											
TIMM17A	10440	broad.mit.edu	37	chr1	201926447	201926447	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgactgtggtggggcctttaCgatgggtaccattggtggtg	5	13	17	6	1	0	1	0	1	0	0	0	2	0	1	2	6	2	1	2	6	2	4			TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr1:201926447C>T	ENST00000367287.4	+	2	101	c.65C>T	c.(64-66)aCg>aTg	p.T22M		NM_006335.2	NP_006326.1	Q99595	TI17A_HUMAN	translocase of inner mitochondrial membrane 17 homolog A (yeast)	22					protein targeting to mitochondrion	integral to membrane|mitochondrial inner membrane presequence translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			kidney(1)|lung(3)|stomach(1)	5						GGGGCCTTTACGATGGGTACC	0.418													3	33					0	0	1	0	0	T	201926447	C	T	201926447	3	4	195	1	0	0	0	0	1	0	0	0	15968	536	19	1	71	1	TIMM17A	1	201926447	Missense_Mutation	SNP	C	TCGA-HC-8258-01A-11D-2260-08	49598412	201926447	47324174	3	9122											
KIAA2018	205717	broad.mit.edu	37	chr3	113378681	113378681	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaacattttgcactgaattAttagaccctattacagtatt	13	15	6	7	0	0	2	0	1	0	1	0	3	0	3	1	1	3	2	1	1	7	8			TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr3:113378681A>T	ENST00000316407.4	-	7	2258	c.1848T>A	c.(1846-1848)aaT>aaA	p.N616K	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.N616K	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	616					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GCACTGAATTATTAGACCCTA	0.448													5	35					0	0	1	0	0	T	113378681	A	T	113378681	3	4	195	1	0	0	0	0	1	0	0	0	8310	446	16	5	4893	5	KIAA2018	3	113378681	Missense_Mutation	SNP	A	TCGA-HC-8258-01A-11D-2260-08		113378681	84643749	4	9123											
ADRA2C	152	broad.mit.edu	37	chr4	3769634	3769634	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaacagctcgctcaaccCggtcatctacacggtcttca	9	9	7	16	3	5	0	3	0	2	0	6	0	5	0	1	2	5	3	1	2	3	2			TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr4:3769634C>G	ENST00000330055.5	+	1	1510	c.1301C>G	c.(1300-1302)cCg>cGg	p.P434R	ADRA2C_ENST00000509482.1_Intron	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN	adrenoceptor alpha 2C	434					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	TCGCTCAACCCGGTCATCTAC	0.597													3	43					0	0	1	0	0	G	3769634	C	G	3769634	3	3	195	1	0	0	0	0	1	0	0	0	338	652	23	4	1303	4	ADRA2C	4	3769634	Missense_Mutation	SNP	C	TCGA-HC-8258-01A-11D-2260-08		3769634	187384642	5	9124											
SMARCA5	8467	broad.mit.edu	37	chr4	144469277	144469277	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagatttgactggtttcttaAgtccagaactgcaatggtga	11	13	10	7	0	1	4	0	2	1	2	2	4	2	4	1	2	2	2	1	2	3	3			TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr4:144469277A>G	ENST00000283131.3	+	22	3431	c.2969A>G	c.(2968-2970)aAg>aGg	p.K990R		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	990	SANT 2.				CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					TGGTTTCTTAAGTCCAGAACT	0.373													2	15					0	0	1	0	0	G	144469277	A	G	144469277	3	3	195	1	0	0	0	0	1	0	0	0	14825	72	3	3	3055	3	SMARCA5	4	144469277	Missense_Mutation	SNP	A	TCGA-HC-8258-01A-11D-2260-08	140699643	144469277	46684999	6	9125											
LARP1	23367	broad.mit.edu	37	chr5	154181822	154181822	+	Frame_Shift_Del	DEL	G	G	-																															attacatgcgccggcacccaGggggggaccgcacaggcaac																										TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr5:154181822delG	ENST00000336314.4	+	11	1765	c.1741delG	c.(1741-1743)ggfs	p.G582fs		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	659							protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CCGGCACCCAGGGGGGGACCG	0.547													7	223	---	---	---	---						-	154181822	G	-	154181822	7	5	195	1	0	1	0	1	0	0	0	0	8667	1000	35	0	1783	0	LARP1	5	154181822	Frame_Shift_Del	DEL	G	TCGA-HC-8258-01A-11D-2260-08		154181822	26733438	7	9126											
ATF6B	1388	broad.mit.edu	37	chr6	32083517	32083517	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagtgtgaatggcagaggtCagggatgattgaggtagagg	11	9	18	3	0	2	5	2	3	0	2	2	6	2	6	0	5	0	2	0	5	2	2			TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr6:32083517C>T	ENST00000375201.4	-	18	2147	c.2102G>A	c.(2101-2103)tGa>tAa	p.*701*	ATF6B_ENST00000375203.3_Silent_p.*704*			Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	0					response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						TGGCAGAGGTCAGGGATGATT	0.617													5	161					0	0	1	0	0	T	32083517	C	T	32083517	2	4	195	1	0	0	0	0	0	0	0	1	1084	837	29	2		2	ATF6B	6	32083517	Silent	SNP	C	TCGA-HC-8258-01A-11D-2260-08		32083517	139031550	8	9127											
DLC1	10395	broad.mit.edu	37	chr8	12957624	12957624	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgactggctgctgctgctgCtggtctgcgtggagttggaa	4	11	16	10	2	1	0	0	0	1	0	1	3	1	2	1	4	5	6	1	4	1	1			TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr8:12957624C>G	ENST00000276297.4	-	9	2631	c.2222G>C	c.(2221-2223)aGc>aCc	p.S741T	DLC1_ENST00000512044.2_Missense_Mutation_p.S338T|DLC1_ENST00000520226.1_Missense_Mutation_p.S230T|DLC1_ENST00000358919.2_Missense_Mutation_p.S304T	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	741	Poly-Ser.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GCTGCTGCTGCTGGTCTGCGT	0.627													4	87					0	0	1	0	0	G	12957624	C	G	12957624	3	3	195	1	0	0	0	0	1	0	0	0	4578	797	28	4	2404	4	DLC1	8	12957624	Missense_Mutation	SNP	C	TCGA-HC-8258-01A-11D-2260-08		12957624	133406398	9	9128											
PKHD1L1	93035	broad.mit.edu	37	chr8	110437366	110437366	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacagaggaaataattggcCaggcgagtcaaaaattcata	17	8	9	7	1	2	1	2	0	0	1	2	3	2	2	1	3	1	0	1	3	6	5			TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr8:110437366C>A	ENST00000378402.5	+	24	2854	c.2750C>A	c.(2749-2751)cCa>cAa	p.P917Q		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	917					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AATAATTGGCCAGGCGAGTCA	0.338										HNSCC(38;0.096)			2	6					1	1	1	1	0	A	110437366	C	A	110437366	3	1	195	1	0	0	0	0	1	0	0	0	12020	594	21	4	2844	4	PKHD1L1	8	110437366	Missense_Mutation	SNP	C	TCGA-HC-8258-01A-11D-2260-08	97479742	110437366	35926656	10	9129											
CRB2	286204	broad.mit.edu	37	chr9	126136215	126136216	+	Frame_Shift_Ins	INS	-	-	G																															gcaggtgggatggctgggcaINSggggggtgggctgcgaatgc																										TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr9:126136215_126136216insG	ENST00000359999.3	+	10	3496_3497	c.3405_3406insG	c.(3403-3408)gcggggfs	p.AG1135fs	CRB2_ENST00000373629.2_Intron|CRB2_ENST00000373631.3_Intron			Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	909	EGF-like 14.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						ATGGCTGGGCAGGGGGGTGGGC	0.698													3	5	---	---	---	---						G	126136216	-	G	126136215	7	5	195	1	0	1	1	0	0	0	0	0	3872	203	7	0		0	CRB2	9	126136215	Frame_Shift_Ins	INS	-	TCGA-HC-8258-01A-11D-2260-08		126136215	15077216	11	9130											
ENTPD7	57089	broad.mit.edu	37	chr10	101464346	101464346	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ataccttctgcggctacgccGaattcaccaccgacaaacac	12	7	6	16	4	2	0	1	0	1	0	2	2	2	0	4	1	4	1	4	1	4	4			TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr10:101464346G>A	ENST00000370489.4	+	13	1899	c.1721G>A	c.(1720-1722)cGa>cAa	p.R574Q	CUTC_ENST00000493385.1_Intron	NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	574						cytoplasmic vesicle membrane|integral to membrane	hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		CGGCTACGCCGAATTCACCAC	0.547													5	44					0	0	1	0	0	A	101464346	G	A	101464346	3	1	195	1	0	0	0	0	1	0	0	0	5172	1058	37	1	1767	1	ENTPD7	10	101464346	Missense_Mutation	SNP	G	TCGA-HC-8258-01A-11D-2260-08		101464346	34070401	12	9131											
OR4C6	219432	broad.mit.edu	37	chr11	55432916	55432916	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaagagcactaccatctctCtcaaaggctgcctcacccag	11	7	6	17	0	3	1	2	0	2	1	5	1	3	1	4	1	3	2	4	1	3	1			TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr11:55432916C>G	ENST00000314259.3	+	1	303	c.274C>G	c.(274-276)Ctc>Gtc	p.L92V		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TACCATCTCTCTCAAAGGCTG	0.502													6	52					0	0	1	0	0	G	55432916	C	G	55432916	3	3	195	1	0	0	0	0	1	0	0	0	11100	913	32	4	276	4	OR4C6	11	55432916	Missense_Mutation	SNP	C	TCGA-HC-8258-01A-11D-2260-08		55432916	79573600	13	9132											
CADM1	23705	broad.mit.edu	37	chr11	115047194	115047194	+	Nonstop_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgaaacaaaaaggctgatCtagatgaagtactctttctt	15	13	7	6	0	3	4	0	3	3	1	3	4	3	4	0	1	2	2	0	1	6	5			TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr11:115047194C>A	ENST00000542447.2	-	9	1373	c.1245G>T	c.(1243-1245)taG>taT	p.*415Y	CADM1_ENST00000452722.2_Nonstop_Mutation_p.*443Y|CADM1_ENST00000537058.1_Nonstop_Mutation_p.*454Y|CADM1_ENST00000331581.6_Nonstop_Mutation_p.*472Y|CADM1_ENST00000536727.1_Nonstop_Mutation_p.*444Y|CADM1_ENST00000537140.1_Intron	NM_001098517.1	NP_001091987.1	Q9BY67	CADM1_HUMAN	cell adhesion molecule 1	0					adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		AAAGGCTGATCTAGATGAAGT	0.418													7	74					6.40141e-05	7.73504e-05	1	1	0	A	115047194	C	A	115047194	4	1	195	1	0	0	0	0	0	0	0	0	2584	924	32	4	3	4	CADM1	11	115047194	Nonstop_Mutation	SNP	C	TCGA-HC-8258-01A-11D-2260-08	59614278	115047194	19959322	14	9133											
PDZRN4	29951	broad.mit.edu	37	chr12	41966530	41966530	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgacctgtattactcaagcaGcacaattgaatgcaatcaag	15	10	7	9	0	2	2	2	2	0	0	2	2	2	2	1	0	4	4	1	0	7	3			TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr12:41966530G>A	ENST00000298919.7	+	10	1557	c.1169G>A	c.(1168-1170)aGc>aAc	p.S390N	PDZRN4_ENST00000539469.2_Missense_Mutation_p.S392N|PDZRN4_ENST00000402685.2_Missense_Mutation_p.S650N			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	650							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TACTCAAGCAGCACAATTGAA	0.438													3	65					0	0	1	0	0	A	41966530	G	A	41966530	3	1	195	1	0	0	0	0	1	0	0	0	11757	971	34	2	2060	2	PDZRN4	12	41966530	Missense_Mutation	SNP	G	TCGA-HC-8258-01A-11D-2260-08		41966530	91885365	15	9134											
TSC2	7249	broad.mit.edu	37	chr16	2111921	2111921	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtccatgacctgttgaccaCggtggaggagctgtgtgacc	7	9	14	11	2	0	3	0	3	0	0	1	5	1	5	4	3	1	2	4	3	0	1	rs137854007		TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr16:2111921C>A	ENST00000219476.3	+	12	1799	c.1169C>A	c.(1168-1170)aCg>aAg	p.T390K	TSC2_ENST00000401874.2_Missense_Mutation_p.T390K|TSC2_ENST00000382538.6_Missense_Mutation_p.T341K|TSC2_ENST00000353929.4_Missense_Mutation_p.T390K|TSC2_ENST00000568454.1_Missense_Mutation_p.T401K|TSC2_ENST00000350773.4_Missense_Mutation_p.T390K|TSC2_ENST00000439673.2_Missense_Mutation_p.T353K	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	390	Required for interaction with TSC1.				cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CTGTTGACCACGGTGGAGGAG	0.587			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis				3	126					0.00909568	0.010551	1	1	0	A	2111921	C	A	2111921	3	1	195	1	0	0	0	0	1	0	0	0	16667	536	19	4	1211	4	TSC2	16	2111921	Missense_Mutation	SNP	C	TCGA-HC-8258-01A-11D-2260-08		2111921	88242832	16	9135											
TRPV2	51393	broad.mit.edu	37	chr17	16335412	16335412	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtacaggggtatcctggaagCctccttggagctcttcaaat	9	11	11	10	0	2	0	1	0	1	0	4	2	4	2	3	4	3	3	3	4	4	4			TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr17:16335412C>A	ENST00000338560.7	+	12	2186	c.1787C>A	c.(1786-1788)gCc>gAc	p.A596D	TRPV2_ENST00000583241.1_3'UTR|TRPV2_ENST00000577397.1_Missense_Mutation_p.A166D	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	596					sensory perception	integral to plasma membrane|melanosome	calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		ATCCTGGAAGCCTCCTTGGAG	0.632													7	123					0.0293803	0.0327704	1	1	0	A	16335412	C	A	16335412	3	1	195	1	0	0	0	0	1	0	0	0	16657	739	26	4	1829	4	TRPV2	17	16335412	Missense_Mutation	SNP	C	TCGA-HC-8258-01A-11D-2260-08		16335412	64859798	17	9136											
NLK	51701	broad.mit.edu	37	chr17	26370029	26370031	+	In_Frame_Del	DEL	CAC	CAC	-																															acctccctcctcctcacctgCaccaccaccaccaccctcaa																										TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr17:26370029_26370031delCAC	ENST00000407008.3	+	1	848_850	c.130_132delCAC	c.(130-132)del	p.H48del	NLK_ENST00000583517.1_Intron|NLK_ENST00000582037.1_In_Frame_Del_p.H48del	NM_016231.4	NP_057315.3	Q9UBE8	NLK_HUMAN	nemo-like kinase	48	Poly-His.				intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		TCCTCACCTGCACCACCACCACC	0.611													2	4	---	---	---	---						-	26370031	CAC	-	26370029	7	5	195	1	0	1	0	1	0	0	0	0	10513	710	25	0	132	0	NLK	17	26370029	In_Frame_Del	DEL	CAC	TCGA-HC-8258-01A-11D-2260-08	10034617	26370029	54825181	18	9137											
SPOP	8405	broad.mit.edu	37	chr17	47696426	47696426	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctacggatgaatttcttgaAtccccagtctttgccttgca	8	15	7	11	1	3	2	0	2	3	0	4	3	4	3	3	1	3	1	3	1	3	5			TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr17:47696426A>G	ENST00000393331.3	-	7	867	c.397T>C	c.(397-399)Ttc>Ctc	p.F133L	SPOP_ENST00000504102.1_Missense_Mutation_p.F133L|SPOP_ENST00000503676.1_Missense_Mutation_p.F133L|SPOP_ENST00000393328.2_Missense_Mutation_p.F133L|SPOP_ENST00000347630.2_Missense_Mutation_p.F133L	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	133	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.F133V(4)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						AATTTCTTGAATCCCCAGTCT	0.448										Prostate(2;0.17)			5	79					0	0	1	0	0	G	47696426	A	G	47696426	3	3	195	1	0	0	0	0	1	0	0	0	15140	101	4	3	751	3	SPOP	17	47696426	Missense_Mutation	SNP	A	TCGA-HC-8258-01A-11D-2260-08	21326397	47696426	33498784	19	9138											
NCAN	1463	broad.mit.edu	37	chr19	19360601	19360603	+	In_Frame_Del	DEL	CAC	CAC	-																															gttcacatcggatgcggcgaCaccaccaccaccaccaacac																										TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr19:19360601_19360603delCAC	ENST00000252575.5	+	15	3890_3892	c.3847_3849delCAC	c.(3847-3849)del	p.H1287del	NCAN_ENST00000538881.1_In_Frame_Del_p.H738del	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	1287					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			GATGCGGCGAcaccaccaccacc	0.596													9	105	---	---	---	---						-	19360603	CAC	-	19360601	7	5	195	1	0	1	0	1	0	0	0	0	10251	478	17	0	3901	0	NCAN	19	19360601	In_Frame_Del	DEL	CAC	TCGA-HC-8258-01A-11D-2260-08		19360601	39768382	20	9139											
BAGE2	85319	broad.mit.edu	37	chr21	11098839	11098839	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccagagcgagacgagccaCggtgttacaggctccagcct	10	6	12	13	3	0	2	0	0	0	2	2	4	2	2	4	2	4	2	4	2	1	1			TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr21:11098839C>T	ENST00000470054.1	-	0	86									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)		agacgagccacggtgttacag	0.617													4	49					0	0	1	0	0	T	11098839	C	T	11098839	1	4	195	0	1	0	0	0	0	0	0	0	1290	551	19	1		1	BAGE2	21	11098839	RNA	SNP	C	TCGA-HC-8258-01A-11D-2260-08		11098839	37031056	21	9140											
PLA2G6	8398	broad.mit.edu	37	chr22	38509530	38509530	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcccagttccttggccccAaaaacagtcttggccagctc	8	10	8	15	0	1	0	0	0	1	0	3	0	2	0	5	2	3	2	5	2	2	4			TCGA-HC-8258-01A-11D-2260-08	TCGA-HC-8258-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	597e4011-ea99-4356-b1d9-8cfe35db7c3b	bf511245-3f97-49f0-9422-c646fa25dba0	g.chr22:38509530A>C	ENST00000332509.3	-	15	2349	c.2166T>G	c.(2164-2166)ttT>ttG	p.F722L	PLA2G6_ENST00000402064.1_Missense_Mutation_p.F668L|PLA2G6_ENST00000335539.3_Missense_Mutation_p.F668L	NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	722					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	CCTTGGCCCCAAAAACAGTCT	0.622													3	137					0	0	1	0	0	C	38509530	A	C	38509530	3	2	195	1	0	0	0	0	1	0	0	0	12056	127	5	5	266	5	PLA2G6	22	38509530	Missense_Mutation	SNP	A	TCGA-HC-8258-01A-11D-2260-08		38509530	12795036	22	9141											
KLHDC7A	127707	broad.mit.edu	37	chr1	18808932	18808932	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcgagctgatcctgcagcGccggctccggggccgccagt	4	5	16	16	6	0	1	0	1	0	0	2	2	2	1	5	3	3	3	5	3	0	0			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr1:18808932G>A	ENST00000400664.1	+	1	1509	c.1457G>A	c.(1456-1458)cGc>cAc	p.R486H		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	486						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ATCCTGCAGCGCCGGCTCCGG	0.662													3	69					0	0	1	0	0	A	18808932	G	A	18808932	3	1	196	1	0	0	0	0	1	0	0	0	8403	1087	38	1	1459	1	KLHDC7A	1	18808932	Missense_Mutation	SNP	G	TCGA-HC-8259-01A-11D-2260-08		18808932	230441689	1	9142											
YRDC	79693	broad.mit.edu	37	chr1	38272777	38272777	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaaaacttgactcacaggcGtaaaagggtttaggtccttg	13	10	11	7	1	1	2	1	1	0	1	2	2	2	2	1	3	1	2	1	3	5	5			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr1:38272777G>A	ENST00000373044.2	-	2	504	c.500C>T	c.(499-501)aCg>aTg	p.T167M	C1orf122_ENST00000373043.1_5'UTR	NM_024640.3	NP_078916.3	Q86U90	YRDC_HUMAN	yrdC N(6)-threonylcarbamoyltransferase domain containing	167	YrdC-like.				negative regulation of transport	membrane|mitochondrion				lung(2)|upper_aerodigestive_tract(1)	3	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				ACTCACAGGCGTAAAAGGGTT	0.522													3	46					0	0	1	0	0	A	38272777	G	A	38272777	3	1	196	1	0	0	0	0	1	0	0	0	17554	1145	40	1	355	1	YRDC	1	38272777	Missense_Mutation	SNP	G	TCGA-HC-8259-01A-11D-2260-08	19463845	38272777	210977844	2	9143											
IL12RB2	3595	broad.mit.edu	37	chr1	67787493	67787495	+	In_Frame_Del	DEL	TAC	TAC	-																															gtcacaggtcttccccttggTacaaccttgtttgtctgcaa																										TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr1:67787493_67787495delTAC	ENST00000262345.1	+	3	925_927	c.285_287delTAC	c.(283-288)gga>gg	p.GT95del	IL12RB2_ENST00000541374.1_In_Frame_Del_p.GT95del|IL12RB2_ENST00000544434.1_In_Frame_Del_p.GT95del|IL12RB2_ENST00000371000.1_In_Frame_Del_p.GT95del	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	95					positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						TTCCCCTTGGTACAACCTTGTTT	0.404													8	214	---	---	---	---						-	67787495	TAC	-	67787493	7	5	196	1	0	1	0	1	0	0	0	0	7671	1625	57	0	291	0	IL12RB2	1	67787493	In_Frame_Del	DEL	TAC	TCGA-HC-8259-01A-11D-2260-08	29514716	67787493	181463128	3	9144											
CADM3	57863	broad.mit.edu	37	chr1	159163349	159163349	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagggtgaccaagaactccaCggtgagtacctcctgccttg	10	8	11	12	1	0	3	0	2	0	1	2	3	2	3	5	2	3	1	5	2	4	2			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr1:159163349C>T	ENST00000368125.4	+	4	676	c.520_splice	c.e4+1	p.H173_splice	CADM3_ENST00000368124.4_Splice_Site_p.H207_splice	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	173	Ig-like C2-type 1.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	p.H207H(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					AAGAACTCCACGGTGAGTACC	0.537													4	42					0	0	1	0	0	T	159163349	C	T	159163349	5	4	196	1	0	0	0	0	0	0	1	0	2586	550	19	1	639	1	CADM3	1	159163349	Splice_Site	SNP	C	TCGA-HC-8259-01A-11D-2260-08	91375856	159163349	90087272	4	9145											
OLFML2B	25903	broad.mit.edu	37	chr1	161967994	161967994	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaccagggtgcggtccgagcGttcaggtcgcttgtcacagc	6	8	15	12	4	2	0	2	0	0	0	4	2	3	0	2	3	3	2	2	3	0	2	rs34123330	byFrequency	TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr1:161967994G>A	ENST00000294794.3	-	6	1518	c.1095C>T	c.(1093-1095)aaC>aaT	p.N365N	OLFML2B_ENST00000367940.2_Silent_p.N366N	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	365								p.N365N(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			CGGTCCGAGCGTTCAGGTCGC	0.612													8	158					0	0	1	0	0	A	161967994	G	A	161967994	2	1	196	1	0	0	0	0	0	0	0	1	10906	1136	40	1		1	OLFML2B	1	161967994	Silent	SNP	G	TCGA-HC-8259-01A-11D-2260-08	2804645	161967994	87282627	5	9146											
POU2F1	5451	broad.mit.edu	37	chr1	167367303	167367303	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggaattgagggcttgagccGtaggaggaagaaacgcacca	14	5	15	7	2	0	3	0	2	0	1	0	6	0	6	2	4	2	3	2	4	4	3			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr1:167367303G>A	ENST00000367862.5	+	11	1404	c.1169G>A	c.(1168-1170)cGt>cAt	p.R390H	POU2F1_ENST00000420254.3_Missense_Mutation_p.R378H|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000541643.3_Missense_Mutation_p.R378H|POU2F1_ENST00000429375.2_Missense_Mutation_p.R338H|POU2F1_ENST00000367866.2_Missense_Mutation_p.R401H	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN	POU class 2 homeobox 1	378					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						GGCTTGAGCCGTAGGAGGAAG	0.463													4	45					0	0	1	0	0	A	167367303	G	A	167367303	3	1	196	1	0	0	0	0	1	0	0	0	12317	1145	40	1	1171	1	POU2F1	1	167367303	Missense_Mutation	SNP	G	TCGA-HC-8259-01A-11D-2260-08	5399309	167367303	81883318	6	9147											
PLEKHA6	22874	broad.mit.edu	37	chr1	204216548	204216548	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgcagggcagagacctcaGactcgaggtgctcatactct	9	8	12	12	2	3	2	2	0	1	2	4	4	3	2	1	2	3	3	1	2	1	1			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr1:204216548G>T	ENST00000272203.3	-	13	2181	c.1865C>A	c.(1864-1866)tCt>tAt	p.S622Y	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.S642Y	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	622										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			AGAGACCTCAGACTCGAGGTG	0.562													15	28					3.41278e-10	3.85032e-10	1	1	0	T	204216548	G	T	204216548	3	4	196	1	0	0	0	0	1	0	0	0	12108	942	33	4	1321	4	PLEKHA6	1	204216548	Missense_Mutation	SNP	G	TCGA-HC-8259-01A-11D-2260-08	36849245	204216548	45034073	7	9148											
MPV17	4358	broad.mit.edu	37	chr2	27535939	27535939	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaccccgcctctccaccagCtgctgtgagataatgtcacc	9	8	8	16	1	2	2	1	1	1	2	3	3	2	2	6	0	2	2	6	0	1	1			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr2:27535939C>T	ENST00000402722.1	-	3	107	c.73G>A	c.(73-75)Gct>Act	p.A25T	MPV17_ENST00000233545.2_Silent_p.Q36Q|MPV17_ENST00000405076.1_Silent_p.Q36Q|MPV17_ENST00000380044.1_Silent_p.Q36Q|MPV17_ENST00000402310.1_Silent_p.Q36Q|MPV17_ENST00000403262.2_Silent_p.Q36Q|MPV17_ENST00000357186.6_Intron|MPV17_ENST00000405983.1_Silent_p.Q51Q			P39210	MPV17_HUMAN	MpV17 mitochondrial inner membrane protein	25					cellular response to reactive oxygen species|glomerular basement membrane development|homeostatic process|inner ear development|mitochondrial genome maintenance|regulation of reactive oxygen species metabolic process	integral to peroxisomal membrane|mitochondrial inner membrane				lung(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTCCACCAGCTGCTGTGAGA	0.597													9	111					0	0	1	0	0	T	27535939	C	T	27535939	3	4	196	1	0	0	0	0	1	0	0	0	9794	796	28	2	446	2	MPV17	2	27535939	Missense_Mutation	SNP	C	TCGA-HC-8259-01A-11D-2260-08		27535939	215663434	8	9149											
VIT	5212	broad.mit.edu	37	chr2	36982191	36982191	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggagagaatcctttatcGtcttaggtatgaccacacac	12	11	9	9	1	1	2	0	1	1	1	3	5	2	3	2	2	0	1	2	2	4	4	rs138478832		TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr2:36982191G>A	ENST00000379242.3	+	5	705	c.403G>A	c.(403-405)Gtc>Atc	p.V135I	VIT_ENST00000404084.1_Missense_Mutation_p.V113I|VIT_ENST00000379241.3_Missense_Mutation_p.V135I|VIT_ENST00000389975.3_Missense_Mutation_p.V135I|VIT_ENST00000457137.2_Missense_Mutation_p.V135I|VIT_ENST00000401530.1_Missense_Mutation_p.V135I|VIT_ENST00000497382.1_5'UTR	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	135						proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				ATCCTTTATCGTCTTAGGTAT	0.443													4	33					0	0	1	0	0	A	36982191	G	A	36982191	3	1	196	1	0	0	0	0	1	0	0	0	17231	1145	40	1	417	1	VIT	2	36982191	Missense_Mutation	SNP	G	TCGA-HC-8259-01A-11D-2260-08	9446252	36982191	206217182	9	9150											
ATP6V1E2	90423	broad.mit.edu	37	chr2	46739777	46739777	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcgatttcctctgctttcTcattggcttcctgctcaatg	5	17	6	13	1	3	0	2	0	2	0	7	1	5	0	2	1	2	3	2	1	1	4			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr2:46739777T>A	ENST00000306448.4	-	2	1187	c.74A>T	c.(73-75)gAg>gTg	p.E25V	ATP6V1E2_ENST00000522587.1_Missense_Mutation_p.E25V	NM_080653.3	NP_542384.1	Q96A05	VATE2_HUMAN	ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2	25					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting two-sector ATPase complex, catalytic domain	proton-transporting ATPase activity, rotational mechanism			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.151)			CTCTGCTTTCTCATTGGCTTC	0.478													5	57					0	0	1	0	0	A	46739777	T	A	46739777	3	1	196	1	0	0	0	0	1	0	0	0	1182	1551	54	5	610	5	ATP6V1E2	2	46739777	Missense_Mutation	SNP	T	TCGA-HC-8259-01A-11D-2260-08	9757586	46739777	196459596	10	9151											
EGR4	1961	broad.mit.edu	37	chr2	73518810	73518810	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aagttgcggaggcagatgcgGcactggaagggtttgtggcc	8	8	18	7	2	0	1	0	0	0	1	0	3	0	3	1	6	2	4	1	6	2	2			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr2:73518810G>A	ENST00000545030.1	-	2	1619	c.1545C>T	c.(1543-1545)tgC>tgT	p.C515C	EGR4_ENST00000436467.2_Silent_p.C412C	NM_001965.3	NP_001956.3	B7ZKU3	B7ZKU3_HUMAN	early growth response 4	411						intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GGCAGATGCGGCACTGGAAGG	0.662													3	96					0	0	1	0	0	A	73518810	G	A	73518810	2	1	196	1	0	0	0	0	0	0	0	1	5000	1195	42	2		2	EGR4	2	73518810	Silent	SNP	G	TCGA-HC-8259-01A-11D-2260-08	26779033	73518810	169680563	11	9152											
CCDC74A	90557	broad.mit.edu	37	chr2	132287226	132287226	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcttgctttcagatctccAttacaagctcataatgaatc	11	14	6	10	0	3	2	2	1	1	1	5	2	3	2	1	0	4	3	1	0	4	4	rs147307685	byFrequency	TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr2:132287226A>G	ENST00000295171.6	+	2	395	c.257A>G	c.(256-258)cAt>cGt	p.H86R	CCDC74A_ENST00000409856.3_Missense_Mutation_p.H86R|CCDC74A_ENST00000478665.1_3'UTR	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	86										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						TCAGATCTCCATTACAAGCTC	0.532													3	56					0	0	1	0	0	G	132287226	A	G	132287226	3	3	196	1	0	0	0	0	1	0	0	0	2867	217	8	3	263	3	CCDC74A	2	132287226	Missense_Mutation	SNP	A	TCGA-HC-8259-01A-11D-2260-08	58768416	132287226	110912147	12	9153											
ANKAR	150709	broad.mit.edu	37	chr2	190554476	190554476	+	Nonsense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttactaatgctataaaataTaatcaggattatcttgatat	16	16	4	5	0	2	1	1	1	1	0	2	2	2	2	0	1	2	1	0	1	9	9			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr2:190554476T>G	ENST00000520309.1	+	3	913	c.825T>G	c.(823-825)taT>taG	p.Y275*	ANKAR_ENST00000461516.1_3'UTR|ANKAR_ENST00000313581.4_Nonsense_Mutation_p.Y275*|ANKAR_ENST00000431575.2_Nonsense_Mutation_p.Y204*|ANKAR_ENST00000438402.2_Nonsense_Mutation_p.Y275*|ANKAR_ENST00000281412.6_Nonsense_Mutation_p.Y39*	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	275						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			CTATAAAATATAATCAGGATT	0.274													4	55					0	0	1	0	0	G	190554476	T	G	190554476	4	3	196	1	0	0	0	0	0	1	0	0	619	1413	49	5	831	5	ANKAR	2	190554476	Nonsense_Mutation	SNP	T	TCGA-HC-8259-01A-11D-2260-08	58267250	190554476	52644897	13	9154											
TUBA4A	7277	broad.mit.edu	37	chr2	220116300	220116300	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcaccagcttgcggatcCgatccagcactgggtcaatg	8	9	10	14	2	2	0	2	0	1	0	5	2	4	1	3	2	3	2	3	2	1	1			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr2:220116300C>A	ENST00000392088.2	-	3	872	c.317G>T	c.(316-318)cGg>cTg	p.R106L	TUBA4A_ENST00000248437.4_Missense_Mutation_p.R121L|TUBA4A_ENST00000498660.1_5'UTR	NM_001278552.1	NP_001265481.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	121					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTGCGGATCCGATCCAGCAC	0.498													3	96					1	1	1	1	0	A	220116300	C	A	220116300	3	1	196	1	0	0	0	0	1	0	0	0	16811	652	23	4	992	4	TUBA4A	2	220116300	Missense_Mutation	SNP	C	TCGA-HC-8259-01A-11D-2260-08	29561824	220116300	23083073	14	9155											
SPHKAP	80309	broad.mit.edu	37	chr2	228882388	228882388	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattccggggatagccctgcGcctgccacatgccgtccacc	6	7	11	17	3	0	0	0	0	0	0	2	2	2	1	7	2	4	0	7	2	1	2			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr2:228882388G>A	ENST00000392056.3	-	7	3228	c.3182C>T	c.(3181-3183)gCg>gTg	p.A1061V	SPHKAP_ENST00000344657.5_Missense_Mutation_p.A1061V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1061						cytoplasm	protein binding	p.A1061V(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		ATAGCCCTGCGCCTGCCACAT	0.557													9	88					0	0	1	0	0	A	228882388	G	A	228882388	3	1	196	1	0	0	0	0	1	0	0	0	15104	1087	38	1	1944	1	SPHKAP	2	228882388	Missense_Mutation	SNP	G	TCGA-HC-8259-01A-11D-2260-08	8766088	228882388	14316985	15	9156											
MTERFD2	130916	broad.mit.edu	37	chr2	242039085	242039085	+	Frame_Shift_Del	DEL	C	C	-																															gacccttgtaccacaggagtCccctgcttctcaaggaggca																										TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr2:242039085delC	ENST00000391980.2	-	2	304	c.246delG	c.(244-246)ggfs	p.G82fs	MTERFD2_ENST00000406593.1_Intron|MTERFD2_ENST00000407095.3_Frame_Shift_Del_p.G82fs|MTERFD2_ENST00000495694.1_Frame_Shift_Del_p.G82fs	NM_182501.3	NP_872307.2	Q7Z6M4	MTER2_HUMAN	MTERF domain containing 2	82										endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		CCACAGGAGTCCCCTGCTTCT	0.488													22	52	---	---	---	---						-	242039085	C	-	242039085	7	5	196	1	0	1	0	1	0	0	0	0	9968	842	30	0	911	0	MTERFD2	2	242039085	Frame_Shift_Del	DEL	C	TCGA-HC-8259-01A-11D-2260-08	13156697	242039085	1160288	16	9157											
SUSD5	26032	broad.mit.edu	37	chr3	33216454	33216454	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgaaggcggtctcccggtgGcccatgatgtggcctggggc	4	8	18	11	2	1	2	0	2	1	0	2	2	1	2	3	7	0	0	3	7	1	0			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr3:33216454G>A	ENST00000309558.3	-	4	939	c.522C>T	c.(520-522)ggC>ggT	p.G174G		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	174	Sushi.				cell adhesion	integral to membrane	hyaluronic acid binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TCTCCCGGTGGCCCATGATGT	0.632													6	105					0	0	1	0	0	A	33216454	G	A	33216454	2	1	196	1	0	0	0	0	0	0	0	1	15467	1190	42	2		2	SUSD5	3	33216454	Silent	SNP	G	TCGA-HC-8259-01A-11D-2260-08		33216454	164805976	17	9158											
KALRN	8997	broad.mit.edu	37	chr3	124132349	124132349	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagacgcctggaatgaagaCttgcttcggcagatgaatga	12	9	12	8	2	0	6	0	3	0	3	1	7	0	7	1	2	1	2	1	2	4	3			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr3:124132349C>T	ENST00000360013.3	+	14	2500	c.2373C>T	c.(2371-2373)gaC>gaT	p.D791D	KALRN_ENST00000460856.1_Silent_p.D791D|KALRN_ENST00000240874.3_Silent_p.D791D	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	791					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GGAATGAAGACTTGCTTCGGC	0.532													5	25					0	0	1	0	0	T	124132349	C	T	124132349	2	4	196	1	0	0	0	0	0	0	0	1	8019	564	20	2		2	KALRN	3	124132349	Silent	SNP	C	TCGA-HC-8259-01A-11D-2260-08	90915895	124132349	73890081	18	9159											
EPHB1	2047	broad.mit.edu	37	chr3	134968200	134968200	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcccagcccctgctcgacCgctccatcccagacttcacg	6	8	6	21	3	1	1	1	0	0	1	5	2	4	1	6	0	2	2	6	0	0	2	rs143309901		TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr3:134968200C>T	ENST00000398015.3	+	15	3083	c.2713C>T	c.(2713-2715)Cgc>Tgc	p.R905C	EPHB1_ENST00000493838.1_Missense_Mutation_p.R466C	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	905						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CCTGCTCGACCGCTCCATCCC	0.592													4	84					0	0	1	0	0	T	134968200	C	T	134968200	3	4	196	1	0	0	0	0	1	0	0	0	5202	652	23	1	2771	1	EPHB1	3	134968200	Missense_Mutation	SNP	C	TCGA-HC-8259-01A-11D-2260-08	10835851	134968200	63054230	19	9160											
SOX14	8403	broad.mit.edu	37	chr3	137483867	137483867	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actacaagtaccgacctcggCgcaagcccaagaacctgctc	12	5	8	16	3	0	1	0	0	0	1	2	2	0	1	4	1	5	3	4	1	6	2			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr3:137483867C>T	ENST00000306087.1	+	1	289	c.241C>T	c.(241-243)Cgc>Tgc	p.R81C		NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN	SRY (sex determining region Y)-box 14	81					negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding			large_intestine(2)|lung(12)	14						CCGACCTCGGCGCAAGCCCAA	0.632													4	43					0	0	1	0	0	T	137483867	C	T	137483867	3	4	196	1	0	0	0	0	1	0	0	0	14999	768	27	1	243	1	SOX14	3	137483867	Missense_Mutation	SNP	C	TCGA-HC-8259-01A-11D-2260-08	2515667	137483867	60538563	20	9161											
GC	2638	broad.mit.edu	37	chr4	72623867	72623867	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agatcagcagtaggcactttTtgggctaactttatgagatt	11	14	10	6	0	1	2	1	1	0	2	1	3	1	2	0	2	2	4	0	2	3	7			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr4:72623867T>C	ENST00000273951.8	-	7	1066	c.723A>G	c.(721-723)caA>caG	p.Q241Q	GC_ENST00000504199.1_Silent_p.Q260Q|GC_ENST00000513476.1_Silent_p.Q241Q|GC_ENST00000503472.1_5'UTR	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	241	Albumin 2.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	TAGGCACTTTTTGGGCTAACT	0.388													52	64					0	0	1	0	0	C	72623867	T	C	72623867	2	2	196	1	0	0	0	0	0	0	0	1	6322	1838	64	3		3	GC	4	72623867	Silent	SNP	T	TCGA-HC-8259-01A-11D-2260-08		72623867	118530409	21	9162											
BMP2K	55589	broad.mit.edu	37	chr4	79832021	79832021	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggaacaaggagattttaatGatgatgatactgaaccagaa	17	9	11	4	0	0	6	0	4	0	2	0	8	0	7	1	2	3	0	1	2	6	3			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr4:79832021G>A	ENST00000335016.5	+	16	2486	c.2320G>A	c.(2320-2322)Gat>Aat	p.D774N	PAQR3_ENST00000295462.3_Intron	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	774						nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						AGATTTTAATGATGATGATAC	0.413													20	24					0	0	1	0	0	A	79832021	G	A	79832021	3	1	196	1	0	0	0	0	1	0	0	0	1459	1290	45	2	2420	2	BMP2K	4	79832021	Missense_Mutation	SNP	G	TCGA-HC-8259-01A-11D-2260-08	7208154	79832021	111322255	22	9163											
TARS	6897	broad.mit.edu	37	chr5	33461117	33461117	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcactcacaggactcacccGggtacgaagattccaacagg	13	5	10	13	2	2	1	2	0	0	1	3	3	3	2	2	3	3	2	2	3	3	2			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr5:33461117G>A	ENST00000265112.3	+	12	1672	c.1361G>A	c.(1360-1362)cGg>cAg	p.R454Q	TARS_ENST00000455217.2_Missense_Mutation_p.R487Q|TARS_ENST00000502553.1_Missense_Mutation_p.R454Q|TARS_ENST00000414361.2_Missense_Mutation_p.R333Q|TARS_ENST00000541634.1_Missense_Mutation_p.R350Q|TARS_ENST00000509410.1_3'UTR	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	454					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	GGACTCACCCGGGTACGAAGA	0.498													7	88					0	0	1	0	0	A	33461117	G	A	33461117	3	1	196	1	0	0	0	0	1	0	0	0	15616	1116	39	1	1407	1	TARS	5	33461117	Missense_Mutation	SNP	G	TCGA-HC-8259-01A-11D-2260-08		33461117	147454143	23	9164											
WDR70	55100	broad.mit.edu	37	chr5	37379473	37379473	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggggtgtgcggccagccatgGagcgctctgggcccagcgaa	6	5	18	12	3	1	0	0	0	1	0	1	2	1	1	3	5	4	1	3	5	1	0			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr5:37379473G>T	ENST00000265107.4	+	1	160	c.4G>T	c.(4-6)Gag>Tag	p.E2*	WDR70_ENST00000504564.1_Nonsense_Mutation_p.E2*	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	2										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCCAGCCATGGAGCGCTCTGG	0.657													18	236					5.45024e-15	6.3108e-15	1	1	0	T	37379473	G	T	37379473	4	4	196	1	0	0	0	0	0	1	0	0	17381	1175	41	4	6	4	WDR70	5	37379473	Nonsense_Mutation	SNP	G	TCGA-HC-8259-01A-11D-2260-08	3918356	37379473	143535787	24	9165											
BTNL9	153579	broad.mit.edu	37	chr5	180486695	180486695	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacgacaccttctcgggcGcgctctgtgcgtacttcagg	5	10	11	15	5	3	0	1	0	2	0	5	1	4	0	2	2	2	2	2	2	1	3			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr5:180486695G>T	ENST00000327705.9	+	11	1672	c.1441G>T	c.(1441-1443)Gcg>Tcg	p.A481S	BTNL9_ENST00000376842.3_Missense_Mutation_p.A482S	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	481	B30.2/SPRY.					integral to membrane				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTTCTCGGGCGCGCTCTGTGC	0.667													3	34					0.00909568	0.00952881	1	1	0	T	180486695	G	T	180486695	3	4	196	1	0	0	0	0	1	0	0	0	1571	1087	38	4	1479	4	BTNL9	5	180486695	Missense_Mutation	SNP	G	TCGA-HC-8259-01A-11D-2260-08	143107222	180486695	428565	25	9166											
MAK	4117	broad.mit.edu	37	chr6	10802138	10802138	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcttacctggcttgctgtcGgtcgtttctttggatcccaa	4	16	9	12	2	2	0	0	0	2	0	5	1	3	1	2	3	2	3	2	3	2	4	rs149734152		TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr6:10802138G>T	ENST00000313243.2	-	8	1200	c.818C>A	c.(817-819)cCg>cAg	p.P273Q	MAK_ENST00000536370.1_Missense_Mutation_p.P273Q|MAK_ENST00000474039.1_Missense_Mutation_p.P273Q|MAK_ENST00000538030.1_Missense_Mutation_p.P273Q|MAK_ENST00000354489.2_Missense_Mutation_p.P273Q|RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron			P20794	MAK_HUMAN	male germ cell-associated kinase	273	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				GCTTGCTGTCGGTCGTTTCTT	0.383											OREG0017187	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	99					5.18039e-06	5.62808e-06	1	1	0	T	10802138	G	T	10802138	3	4	196	1	0	0	0	0	1	0	0	0	9247	1116	39	4	1081	4	MAK	6	10802138	Missense_Mutation	SNP	G	TCGA-HC-8259-01A-11D-2260-08		10802138	160312929	26	9167											
ARID1B	57492	broad.mit.edu	37	chr6	157527453	157527453	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagccagtccttggcagaCgattctgggaaagaggagga	12	6	15	8	1	1	2	0	0	1	2	2	7	2	5	2	4	1	1	2	4	1	2			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr6:157527453C>T	ENST00000346085.5	+	20	5179	c.5178C>T	c.(5176-5178)gaC>gaT	p.D1726D	ARID1B_ENST00000275248.4_Silent_p.D1708D|ARID1B_ENST00000350026.5_Silent_p.D1713D|ARID1B_ENST00000367148.1_Silent_p.D1766D	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1713					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CCTTGGCAGACGATTCTGGGA	0.473													6	141					0	0	1	0	0	T	157527453	C	T	157527453	2	4	196	1	0	0	0	0	0	0	0	1	911	535	19	1		1	ARID1B	6	157527453	Silent	SNP	C	TCGA-HC-8259-01A-11D-2260-08	146725315	157527453	13587614	27	9168											
PLXNA4	91584	broad.mit.edu	37	chr7	131832692	131832692	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggtcctggagacggtggAgttgttcactgcgttatagg	7	12	16	6	2	1	2	1	1	0	1	2	4	2	3	1	5	1	3	1	5	2	4			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr7:131832692A>T	ENST00000359827.3	-	27	5793	c.4831T>A	c.(4831-4833)Tcc>Acc	p.S1611T	PLXNA4_ENST00000321063.4_Missense_Mutation_p.S1611T			Q9HCM2	PLXA4_HUMAN	plexin A4	1611						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GAGACGGTGGAGTTGTTCACT	0.542													7	87					0	0	1	0	0	T	131832692	A	T	131832692	3	4	196	1	0	0	0	0	1	0	0	0	12170	304	11	5	877	5	PLXNA4	7	131832692	Missense_Mutation	SNP	A	TCGA-HC-8259-01A-11D-2260-08		131832692	27305971	28	9169											
ZC3HAV1	56829	broad.mit.edu	37	chr7	138764410	138764410	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcattattattaaaaagaGggccaggctggatgtcctga	13	10	11	7	0	0	2	0	1	0	1	1	3	1	3	2	3	1	2	2	3	5	3			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr7:138764410G>T	ENST00000242351.5	-	4	1593	c.1277C>A	c.(1276-1278)cCt>cAt	p.P426H	ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.P426H|ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.P426H	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	426					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						ATTAAAAAGAGGGCCAGGCTG	0.448													7	57					1.26484e-09	1.40894e-09	1	1	0	T	138764410	G	T	138764410	3	4	196	1	0	0	0	0	1	0	0	0	17634	1000	35	4	1475	4	ZC3HAV1	7	138764410	Missense_Mutation	SNP	G	TCGA-HC-8259-01A-11D-2260-08	6931718	138764410	20374253	29	9170											
OR9A2	135924	broad.mit.edu	37	chr7	142723348	142723348	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagggcctctttgactttgTcattccgaagagtaaagatg	10	12	12	7	1	2	3	1	1	1	2	3	5	3	4	2	2	0	1	2	2	3	4			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr7:142723348T>C	ENST00000350513.2	-	1	934	c.872A>G	c.(871-873)gAc>gGc	p.D291G		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D291V(1)		central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					TTTGACTTTGTCATTCCGAAG	0.458													6	77					0	0	1	0	0	C	142723348	T	C	142723348	3	2	196	1	0	0	0	0	1	0	0	0	11295	1667	58	3	64	3	OR9A2	7	142723348	Missense_Mutation	SNP	T	TCGA-HC-8259-01A-11D-2260-08	3958938	142723348	16415315	30	9171											
NRG1	3084	broad.mit.edu	37	chr8	32620816	32620816	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccagctatcagcaactcatcTtagatcttcttccattcccc	9	13	3	16	0	5	1	2	0	3	1	7	1	7	1	4	0	3	2	4	0	3	5			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr8:32620816T>A	ENST00000521670.1	+	12	1457	c.1349T>A	c.(1348-1350)cTt>cAt	p.L450H	NRG1_ENST00000519301.1_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000287840.5_Intron|NRG1_ENST00000341377.5_Intron|NRG1_ENST00000405005.2_Intron|NRG1_ENST00000539990.1_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000338921.4_Intron			Q02297	NRG1_HUMAN	neuregulin 1	0					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GCAACTCATCTTAGATCTTCT	0.403													4	143					0	0	1	0	0	A	32620816	T	A	32620816	3	1	196	1	0	0	0	0	1	0	0	0	10695	1609	56	5	2995	5	NRG1	8	32620816	Missense_Mutation	SNP	T	TCGA-HC-8259-01A-11D-2260-08		32620816	113743206	31	9172											
WHSC1L1	54904	broad.mit.edu	37	chr8	38146134	38146135	+	Frame_Shift_Ins	INS	-	-	T																															cagctgggcacacctgcgggINStggcattcatactgcaacat																										TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr8:38146134_38146135insT	ENST00000317025.8	-	19	3888_3889	c.3371_3372insA	c.(3370-3372)cccfs	p.P1124fs	WHSC1L1_ENST00000433384.2_Frame_Shift_Ins_p.P1075fs|WHSC1L1_ENST00000527502.1_Frame_Shift_Ins_p.P1124fs	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	1124	AWS.				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			ACACCTGCGGGTGGCATTCATA	0.525			T	NUP98	AML								8	113	---	---	---	---						T	38146135	-	T	38146134	7	5	196	1	0	1	1	0	0	0	0	0	17423	1252	44	0	965	0	WHSC1L1	8	38146134	Frame_Shift_Ins	INS	-	TCGA-HC-8259-01A-11D-2260-08	5525318	38146134	108217888	32	9173											
PREX2	80243	broad.mit.edu	37	chr8	69046379	69046379	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctctgagcagctcatggcGgccttgaaccagatgtttga	8	12	11	10	1	2	4	1	3	1	1	3	4	2	4	2	2	3	3	2	2	1	3	rs150877619		TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr8:69046379G>A	ENST00000288368.4	+	32	4129	c.3852G>A	c.(3850-3852)gcG>gcA	p.A1284A		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1284					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AGCTCATGGCGGCCTTGAACC	0.502													4	55					0	0	1	0	0	A	69046379	G	A	69046379	2	1	196	1	0	0	0	0	0	0	0	1	12529	1103	39	1		1	PREX2	8	69046379	Silent	SNP	G	TCGA-HC-8259-01A-11D-2260-08	30900245	69046379	77317643	33	9174											
TEX10	54881	broad.mit.edu	37	chr9	103092361	103092361	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatccttctgcaaagttgaCgcatttgccagggagaccat	11	10	9	11	1	1	2	0	1	1	1	2	3	2	2	3	1	2	3	3	1	2	3			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr9:103092361C>T	ENST00000374902.4	-	6	1517	c.1341G>A	c.(1339-1341)gcG>gcA	p.A447A	TEX10_ENST00000537512.1_Silent_p.A382A|TEX10_ENST00000535814.1_Silent_p.A450A	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	447						integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding			NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		GCAAAGTTGACGCATTTGCCA	0.388													5	93					0	0	1	0	0	T	103092361	C	T	103092361	2	4	196	1	0	0	0	0	0	0	0	1	15831	523	19	1		1	TEX10	9	103092361	Silent	SNP	C	TCGA-HC-8259-01A-11D-2260-08		103092361	38121070	34	9175											
CACNB2	783	broad.mit.edu	37	chr10	18823041	18823041	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatcgaaaggatttttgaacTtgcaagaacattgcagttgg	14	12	10	5	1	0	2	0	1	0	1	1	4	0	3	0	2	4	3	0	2	5	5			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr10:18823041T>A	ENST00000396576.2	+	10	1427	c.926T>A	c.(925-927)cTt>cAt	p.L309H	CACNB2_ENST00000352115.6_Missense_Mutation_p.L340H|CACNB2_ENST00000282343.8_Missense_Mutation_p.L336H|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000324631.7_Missense_Mutation_p.L364H|CACNB2_ENST00000377315.4_Missense_Mutation_p.L316H|CACNB2_ENST00000377331.2_Missense_Mutation_p.L312H|CACNB2_ENST00000377319.3_Missense_Mutation_p.L271H|CACNB2_ENST00000377328.1_Intron|CACNB2_ENST00000377329.4_Missense_Mutation_p.L310H	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	364					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	ATTTTTGAACTTGCAAGAACA	0.373													7	72					0	0	1	0	0	A	18823041	T	A	18823041	3	1	196	1	0	0	0	0	1	0	0	0	2571	1609	56	5	1443	5	CACNB2	10	18823041	Missense_Mutation	SNP	T	TCGA-HC-8259-01A-11D-2260-08		18823041	116711706	35	9176											
CCNJ	54619	broad.mit.edu	37	chr10	97810164	97810164	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actggacctgtttatggaccGctatgacatctctatccagc	9	12	8	12	1	1	1	0	1	1	0	3	3	2	3	3	2	1	2	3	2	3	4			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr10:97810164G>A	ENST00000265992.5	+	3	588	c.221G>A	c.(220-222)cGc>cAc	p.R74H	ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000427846.1_RNA|ENTPD1-AS1_ENST00000458228.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA|CCNJ_ENST00000403870.3_Missense_Mutation_p.R74H|ENTPD1-AS1_ENST00000452728.1_RNA|CCNJ_ENST00000534974.1_Missense_Mutation_p.R74H|CCNJ_ENST00000465148.2_Missense_Mutation_p.R74H	NM_001134375.1|NM_001134376.1|NM_019084.4	NP_001127847.1|NP_001127848.1|NP_061957.2	Q5T5M9	CCNJ_HUMAN	cyclin J	74	Cyclin N-terminal.					nucleus				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	11				Epithelial(162;6.1e-08)|all cancers(201;2.32e-06)		TTTATGGACCGCTATGACATC	0.453													8	179					0	0	1	0	0	A	97810164	G	A	97810164	3	1	196	1	0	0	0	0	1	0	0	0	2950	1087	38	1	227	1	CCNJ	10	97810164	Missense_Mutation	SNP	G	TCGA-HC-8259-01A-11D-2260-08	78987123	97810164	37724583	36	9177											
CRTAC1	55118	broad.mit.edu	37	chr10	99667831	99667831	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgtggaaaaggaagttaggCccattctcattgtcgcagaa	12	11	11	7	1	1	1	1	0	1	1	3	3	1	3	1	3	0	2	1	3	5	4	rs112478506	byFrequency	TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr10:99667831C>A	ENST00000370597.3	-	6	1144	c.789G>T	c.(787-789)ggG>ggT	p.G263G	CRTAC1_ENST00000298819.4_Silent_p.G263G|CRTAC1_ENST00000370591.2_Silent_p.G263G	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	263						proteinaceous extracellular matrix	calcium ion binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		GGAAGTTAGGCCCATTCTCAT	0.612													3	50					0.115264	0.117945	1	1	0	A	99667831	C	A	99667831	2	1	196	1	0	0	0	0	0	0	0	1	3919	726	26	4		4	CRTAC1	10	99667831	Silent	SNP	C	TCGA-HC-8259-01A-11D-2260-08	1857667	99667831	35866916	37	9178											
C10orf90	118611	broad.mit.edu	37	chr10	128192655	128192655	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctcccacatttgccaattCtgtgttttccaatggaaaag	11	13	7	10	0	1	0	0	0	1	0	3	1	3	1	3	1	2	2	3	1	4	4			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr10:128192655C>T	ENST00000284694.7	-	3	1234	c.1114G>A	c.(1114-1116)Gaa>Aaa	p.E372K	C10orf90_ENST00000392694.1_Missense_Mutation_p.E325K|C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000356858.3_Missense_Mutation_p.E325K|C10orf90_ENST00000454341.1_Missense_Mutation_p.E372K|C10orf90_ENST00000544758.1_Missense_Mutation_p.E469K	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	372										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		TTTGCCAATTCTGTGTTTTCC	0.478											OREG0020616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	44					0	0	1	0	0	T	128192655	C	T	128192655	3	4	196	1	0	0	0	0	1	0	0	0	1627	922	32	2	1013	2	C10orf90	10	128192655	Missense_Mutation	SNP	C	TCGA-HC-8259-01A-11D-2260-08	28524824	128192655	7342092	38	9179											
DUSP8	1850	broad.mit.edu	37	chr11	1586987	1586987	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gatgaccagcggccccccagGcccgccccgcagcaggctgg	6	2	14	19	3	0	1	0	1	0	0	0	2	0	1	7	4	2	3	7	4	0	0			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr11:1586987G>A	ENST00000397374.3	-	2	197	c.70C>T	c.(70-72)Cct>Tct	p.P24S	DUSP8_ENST00000331588.4_Missense_Mutation_p.P24S	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN	dual specificity phosphatase 8	24	Rhodanese.				inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		GGCCCCCCAGGCCCGCCCCGC	0.662													31	203					0	0	1	0	0	A	1586987	G	A	1586987	3	1	196	1	0	0	0	0	1	0	0	0	4857	1203	42	2	1831	2	DUSP8	11	1586987	Missense_Mutation	SNP	G	TCGA-HC-8259-01A-11D-2260-08		1586987	133419529	39	9180											
OR52N5	390075	broad.mit.edu	37	chr11	5799663	5799664	+	Frame_Shift_Ins	INS	-	-	AC																															gcatggccaaaaaaaaaataINScatcggatgatgtaaggact																										TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr11:5799663_5799664insAC	ENST00000317093.2	-	1	233_234	c.201_202insGT	c.(199-204)atatttfs	p.IF67fs	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		AAAAAAAAATACATCGGATGAT	0.45													8	120	---	---	---	---						AC	5799664	-	AC	5799663	7	5	196	1	0	1	1	0	0	0	0	0	11178	391	14	0	776	0	OR52N5	11	5799663	Frame_Shift_Ins	INS	-	TCGA-HC-8259-01A-11D-2260-08	4212676	5799663	129206853	40	9181											
SCUBE2	57758	broad.mit.edu	37	chr11	9072168	9072168	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catacctggtagtgctggtcGcagaccctcgggaaacagct	9	8	12	12	2	0	1	0	0	0	1	2	2	0	2	2	3	4	4	2	3	3	2	rs139599907		TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr11:9072168G>A	ENST00000457346.2	-	14	1698	c.1624C>T	c.(1624-1626)Cga>Tga	p.R542*	SCUBE2_ENST00000450649.2_Intron|SCUBE2_ENST00000520467.1_Nonsense_Mutation_p.R542*|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000309263.3_Nonsense_Mutation_p.R513*			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	513						extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		AGTGCTGGTCGCAGACCCTCG	0.532													4	95					0	0	1	0	0	A	9072168	G	A	9072168	4	1	196	1	0	0	0	0	0	1	0	0	13999	1095	38	1	1502	1	SCUBE2	11	9072168	Nonsense_Mutation	SNP	G	TCGA-HC-8259-01A-11D-2260-08	3272505	9072168	125934348	41	9182											
CAT	847	broad.mit.edu	37	chr11	34475464	34475464	+	Frame_Shift_Del	DEL	C	C	-																															gaggcagtttattgcaaattCcattataaggtatgtgttac																										TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr11:34475464delC	ENST00000241052.4	+	6	791	c.702delC	c.(700-702)ttfs	p.F234fs		NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	234					hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	ATTGCAAATTCCATTATAAGG	0.443													8	74	---	---	---	---						-	34475464	C	-	34475464	7	5	196	1	0	1	0	1	0	0	0	0	2704	854	30	0	724	0	CAT	11	34475464	Frame_Shift_Del	DEL	C	TCGA-HC-8259-01A-11D-2260-08	25403296	34475464	100531052	42	9183											
TTC17	55761	broad.mit.edu	37	chr11	43436141	43436141	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatttttttttcttttcagcCtctgacctttttgagcctgg	4	21	7	9	0	3	2	1	2	2	0	3	3	3	2	3	1	2	0	3	1	0	8			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr11:43436141C>G	ENST00000039989.4	+	16	2080	c.2064_splice	c.e16-1	p.P689_splice	TTC17_ENST00000299240.6_Splice_Site_p.P689_splice|TTC17_ENST00000526774.1_3'UTR	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	689							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						TCTTTTCAGCCTCTGACCTTT	0.383													14	118					0	0	1	0	0	G	43436141	C	G	43436141	5	3	196	1	0	0	0	0	0	0	1	0	16746	695	24	4	2128	4	TTC17	11	43436141	Splice_Site	SNP	C	TCGA-HC-8259-01A-11D-2260-08	8960677	43436141	91570375	43	9184											
CCDC82	79780	broad.mit.edu	37	chr11	96117582	96117582	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgattttgttcgtttcttcTtcatatgttgaaccgttgcc	5	21	7	8	2	3	2	1	2	2	0	4	2	3	2	2	0	2	4	2	0	2	10			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr11:96117582T>C	ENST00000278520.5	-	3	758	c.330A>G	c.(328-330)gaA>gaG	p.E110E	CCDC82_ENST00000423339.2_Silent_p.E110E|CCDC82_ENST00000542662.1_Silent_p.E110E			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	110							protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		TCGTTTCTTCTTCATATGTTG	0.338													9	91					0	0	1	0	0	C	96117582	T	C	96117582	2	2	196	1	0	0	0	0	0	0	0	1	2876	1606	56	3		3	CCDC82	11	96117582	Silent	SNP	T	TCGA-HC-8259-01A-11D-2260-08	52681441	96117582	38888934	44	9185											
HTR3A	3359	broad.mit.edu	37	chr11	113853983	113853983	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcgatgtccagaactgctcGctgaccttcaccagttggct	7	12	9	13	2	1	2	1	1	0	1	4	3	2	2	3	1	2	4	3	1	1	3			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr11:113853983G>T	ENST00000504030.2	+	5	961	c.516G>T	c.(514-516)tcG>tcT	p.S172S	HTR3A_ENST00000299961.5_Silent_p.S157S|HTR3A_ENST00000355556.2_Silent_p.S178S|HTR3A_ENST00000535865.1_5'UTR|HTR3A_ENST00000375498.2_Silent_p.S178S|HTR3A_ENST00000506841.2_Silent_p.S172S			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	172					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	AGAACTGCTCGCTGACCTTCA	0.587													15	217					2.39187e-15	2.80646e-15	1	1	0	T	113853983	G	T	113853983	2	4	196	1	0	0	0	0	0	0	0	1	7488	1074	38	4		4	HTR3A	11	113853983	Silent	SNP	G	TCGA-HC-8259-01A-11D-2260-08	17736401	113853983	21152533	45	9186											
CD163	9332	broad.mit.edu	37	chr12	7647956	7647956	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcaactgtcccagcacagcGgctgcctccacctctaagtc	8	8	7	18	1	2	0	1	0	1	0	5	0	4	0	4	1	4	2	4	1	2	1			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr12:7647956G>A	ENST00000359156.4	-	6	1343	c.1141C>T	c.(1141-1143)Cgc>Tgc	p.R381C	CD163_ENST00000541972.1_Missense_Mutation_p.R369C|CD163_ENST00000432237.2_Missense_Mutation_p.R381C|CD163_ENST00000396620.3_Missense_Mutation_p.R381C	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	381	SRCR 4.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CCAGCACAGCGGCTGCCTCCA	0.488													7	62					0	0	1	0	0	A	7647956	G	A	7647956	3	1	196	1	0	0	0	0	1	0	0	0	2989	1116	39	1	2373	1	CD163	12	7647956	Missense_Mutation	SNP	G	TCGA-HC-8259-01A-11D-2260-08		7647956	126203939	46	9187											
CLEC1A	51267	broad.mit.edu	37	chr12	10224015	10224015	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttctctcacagacacaacGcttcaattctttgcagtcct	9	13	4	15	1	4	1	2	0	2	1	6	1	5	1	2	0	2	2	2	0	2	4			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr12:10224015G>A	ENST00000315330.4	-	6	822	c.760C>T	c.(760-762)Cgt>Tgt	p.R254C	CLEC1A_ENST00000457018.2_Missense_Mutation_p.R221C|CLEC1A_ENST00000420265.2_Missense_Mutation_p.R162C	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN	C-type lectin domain family 1, member A	254	C-type lectin.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						CAGACACAACGCTTCAATTCT	0.483													11	181					0	0	1	0	0	A	10224015	G	A	10224015	3	1	196	1	0	0	0	0	1	0	0	0	3528	1087	38	1	86	1	CLEC1A	12	10224015	Missense_Mutation	SNP	G	TCGA-HC-8259-01A-11D-2260-08	2576059	10224015	123627880	47	9188											
IRAK4	51135	broad.mit.edu	37	chr12	44166061	44166061	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaacagatgcctttctgtgAcaaagacaggacattgatga	16	9	9	7	0	1	5	0	3	1	2	1	6	1	6	1	1	2	0	1	1	3	2			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr12:44166061A>T	ENST00000431837.1	+	3	322	c.14A>T	c.(13-15)gAc>gTc	p.D5V	IRAK4_ENST00000440781.2_Missense_Mutation_p.D5V|IRAK4_ENST00000448290.2_Missense_Mutation_p.D129V|IRAK4_ENST00000551736.1_Missense_Mutation_p.D129V	NM_001145256.1|NM_001145257.1	NP_001138728.1|NP_001138729.1	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	129			I -> V (in dbSNP:rs56312115).		innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity					all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		CCTTTCTGTGACAAAGACAGG	0.373													3	58					0	0	1	0	0	T	44166061	A	T	44166061	3	4	196	1	0	0	0	0	1	0	0	0	7869	275	10	5	396	5	IRAK4	12	44166061	Missense_Mutation	SNP	A	TCGA-HC-8259-01A-11D-2260-08	33942046	44166061	89685834	48	9189											
LRP1	4035	broad.mit.edu	37	chr12	57581134	57581134	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgacatccaccatcacgcGccacacagtggaccagaccc	12	3	7	19	3	1	1	1	0	0	1	2	3	2	2	5	1	0	0	5	1	0	0			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr12:57581134G>A	ENST00000243077.3	+	42	7392	c.6926G>A	c.(6925-6927)cGc>cAc	p.R2309H		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2309					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ACCATCACGCGCCACACAGTG	0.602													3	83					0	0	1	0	0	A	57581134	G	A	57581134	3	1	196	1	0	0	0	0	1	0	0	0	8996	1087	38	1	7092	1	LRP1	12	57581134	Missense_Mutation	SNP	G	TCGA-HC-8259-01A-11D-2260-08	13415073	57581134	76270761	49	9190											
STAC3	246329	broad.mit.edu	37	chr12	57640646	57640646	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccatgatcaccccagtgcGcagggtttcaaacacaggat	11	8	10	12	1	2	1	2	1	0	0	2	2	2	2	3	2	3	2	3	2	1	1			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr12:57640646G>A	ENST00000332782.2	-	6	745	c.544C>T	c.(544-546)Cgc>Tgc	p.R182C	STAC3_ENST00000554578.1_Missense_Mutation_p.R143C|STAC3_ENST00000546246.2_5'UTR	NM_145064.1	NP_659501.1	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	182					intracellular signal transduction		identical protein binding|metal ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						ACCCCAGTGCGCAGGGTTTCA	0.507													4	201					0	0	1	0	0	A	57640646	G	A	57640646	3	1	196	1	0	0	0	0	1	0	0	0	15297	1087	38	1	578	1	STAC3	12	57640646	Missense_Mutation	SNP	G	TCGA-HC-8259-01A-11D-2260-08	59512	57640646	76211249	50	9191											
TMTC2	160335	broad.mit.edu	37	chr12	83251221	83251221	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gccagaacctggggctggttCctggggtcaggactgtgcgc	5	8	17	11	1	1	1	1	0	0	1	2	2	2	2	3	6	2	2	3	6	1	1			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr12:83251221C>G	ENST00000549919.1	+	3	2303	c.498C>G	c.(496-498)ttC>ttG	p.F166L	TMTC2_ENST00000548305.1_Missense_Mutation_p.F172L|TMTC2_ENST00000321196.3_Missense_Mutation_p.F172L			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	172						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						GGGGCTGGTTCCTGGGGTCAG	0.512													21	20					0	0	1	0	0	G	83251221	C	G	83251221	3	3	196	1	0	0	0	0	1	0	0	0	16321	854	30	4	522	4	TMTC2	12	83251221	Missense_Mutation	SNP	C	TCGA-HC-8259-01A-11D-2260-08	25610575	83251221	50600674	51	9192											
GOLGA3	2802	broad.mit.edu	37	chr12	133353557	133353557	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtcacctcttggtttcccAcgggctgtttgctgagctgc	3	13	11	14	2	2	1	1	1	1	0	3	1	3	1	3	2	3	5	3	2	0	3			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr12:133353557A>T	ENST00000204726.3	-	20	4400	c.3842T>A	c.(3841-3843)gTg>gAg	p.V1281E	GOLGA3_ENST00000456883.2_Missense_Mutation_p.V1281E|GOLGA3_ENST00000450791.2_Missense_Mutation_p.V1281E	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	1281	Gln-rich.			V -> A (in Ref. 2; AAL93149).	intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		TTGGTTTCCCACGGGCTGTTT	0.627													3	38					0	0	1	0	0	T	133353557	A	T	133353557	3	4	196	1	0	0	0	0	1	0	0	0	6596	159	6	5	674	5	GOLGA3	12	133353557	Missense_Mutation	SNP	A	TCGA-HC-8259-01A-11D-2260-08	50102336	133353557	498338	52	9193											
ARGLU1	55082	broad.mit.edu	37	chr13	107219953	107219955	+	In_Frame_Del	DEL	CTC	CTC	-																															cgctcgaactccgctttcttCtcctcctcctctcgcttctg																										TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr13:107219953_107219955delCTC	ENST00000400198.3	-	1	557_559	c.313_315delGAG	c.(313-315)del	p.E105del		NM_018011.3	NP_060481.3	Q9NWB6	ARGL1_HUMAN	arginine and glutamate rich 1	105	Glu-rich.									large_intestine(1)|lung(5)|pancreas(1)	7	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					CCGCTTTCTTCTCCTCCTCCTCT	0.714													7	192	---	---	---	---						-	107219955	CTC	-	107219953	7	5	196	1	0	1	0	1	0	0	0	0	857	912	32	0	522	0	ARGLU1	13	107219953	In_Frame_Del	DEL	CTC	TCGA-HC-8259-01A-11D-2260-08		107219953	7949925	53	9194											
COCH	1690	broad.mit.edu	37	chr14	31348049	31348049	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caactcagggggacctgtacGagtctatagcctacctggtc	9	9	11	12	1	2	0	1	0	1	0	3	2	2	1	3	3	4	1	3	3	5	4			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr14:31348049G>A	ENST00000396618.3	+	5	328	c.272G>A	c.(271-273)cGa>cAa	p.R91Q	COCH_ENST00000460581.2_5'UTR|COCH_ENST00000216361.4_Missense_Mutation_p.R91Q|COCH_ENST00000475087.1_Missense_Mutation_p.R91Q|RP11-829H16.3_ENST00000555108.1_RNA	NM_004086.2	NP_004077.1	O43405	COCH_HUMAN	cochlin	91	LCCL.				sensory perception of sound	proteinaceous extracellular matrix				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		GGACCTGTACGAGTCTATAGC	0.458													4	58					0	0	1	0	0	A	31348049	G	A	31348049	3	1	196	1	0	0	0	0	1	0	0	0	3679	1058	37	1	286	1	COCH	14	31348049	Missense_Mutation	SNP	G	TCGA-HC-8259-01A-11D-2260-08		31348049	76001491	54	9195											
KCNH5	27133	broad.mit.edu	37	chr14	63447901	63447901	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagtagttttaaaagcacAataatgtaaaataatgtgtg	18	12	7	4	0	0	0	0	0	0	0	0	0	0	0	1	0	1	4	1	0	9	6			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr14:63447901A>G	ENST00000322893.7	-	6	899	c.631T>C	c.(631-633)Tgt>Cgt	p.C211R	KCNH5_ENST00000394968.1_Missense_Mutation_p.C153R|KCNH5_ENST00000420622.2_Missense_Mutation_p.C211R|KCNH5_ENST00000394964.2_Missense_Mutation_p.C153R	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	211					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TTAAAAGCACAATAATGTAAA	0.363													3	26					0	0	1	0	0	G	63447901	A	G	63447901	3	3	196	1	0	0	0	0	1	0	0	0	8079	130	5	3	2393	3	KCNH5	14	63447901	Missense_Mutation	SNP	A	TCGA-HC-8259-01A-11D-2260-08	32099852	63447901	43901639	55	9196											
TTC8	123016	broad.mit.edu	37	chr14	89307828	89307828	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatctaggctgaatttaacAaagtattcccagaaacctaa	16	12	5	8	0	1	2	0	1	1	1	2	2	2	2	2	1	2	2	2	1	8	7			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr14:89307828A>G	ENST00000338104.6	+	5	571	c.519A>G	c.(517-519)acA>acG	p.T173T	TTC8_ENST00000345383.5_Silent_p.T173T|TTC8_ENST00000346301.4_Intron|TTC8_ENST00000536576.1_Intron|TTC8_ENST00000354441.6_Intron|TTC8_ENST00000380656.2_Silent_p.T183T			Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	183					cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TGAATTTAACAAAGTATTCCC	0.318													6	55					0	0	1	0	0	G	89307828	A	G	89307828	2	3	196	1	0	0	0	0	0	0	0	1	16776	117	5	3		3	TTC8	14	89307828	Silent	SNP	A	TCGA-HC-8259-01A-11D-2260-08	25859927	89307828	18041712	56	9197											
NR2E3	10002	broad.mit.edu	37	chr15	72103780	72103795	+	RNA	DEL	GGCCCAGCCCTGCCCT	GGCCCAGCCCTGCCCT	-																															ggagcgtgcagccctgccccGgcccagccctgccctggccc																								rs11271584	by1000genomes	TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr15:72103780_72103795delGGCCCAGCCCTGCCCT	ENST00000398840.2	+	0	308							Q9Y5X4	NR2E3_HUMAN	nuclear receptor subfamily 2, group E, member 3						phototransduction|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|endometrium(1)|lung(1)	3						gccctgccccggcccagccctgccctggcccagccc	0.69													2	4	---	---	---	---						-	72103795	GGCCCAGCCCTGCCCT	-	72103780	6	5	196	0	1	1	0	1	0	0	0	0	10674	1131	39	0		0	NR2E3	15	72103780	RNA	DEL	GGCCCAGCCCTGCCCT	TCGA-HC-8259-01A-11D-2260-08		72103780	30427612	57	9198											
XYLT1	64131	broad.mit.edu	37	chr16	17294398	17294398	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatggccttgaacatgcgctGcaactgccgagaggcacggc	9	6	14	12	3	0	2	0	1	0	1	0	4	0	2	2	3	5	3	2	3	2	1			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr16:17294398G>A	ENST00000261381.6	-	4	1111	c.1027C>T	c.(1027-1029)Cag>Tag	p.Q343*		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	343					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AACATGCGCTGCAACTGCCGA	0.582													13	170					0	0	1	0	0	A	17294398	G	A	17294398	4	1	196	1	0	0	0	0	0	1	0	0	17523	1328	46	2	1888	2	XYLT1	16	17294398	Nonsense_Mutation	SNP	G	TCGA-HC-8259-01A-11D-2260-08		17294398	73060355	58	9199											
CNTNAP4	85445	broad.mit.edu	37	chr16	76573710	76573710	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgatggacaacttcaccaCataatgattaacagagaaga	17	8	8	8	0	1	4	1	2	0	2	1	6	1	5	1	1	2	1	1	1	4	3			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr16:76573710C>T	ENST00000307431.8	+	21	3697	c.3312C>T	c.(3310-3312)caC>caT	p.H1104H	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Silent_p.H1056H|CNTNAP4_ENST00000478060.1_Silent_p.H1032H|CNTNAP4_ENST00000476707.1_Silent_p.H1108H	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	1105	Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						AACTTCACCACATAATGATTA	0.353													5	82					0	0	1	0	0	T	76573710	C	T	76573710	2	4	196	1	0	0	0	0	0	0	0	1	3672	477	17	2		2	CNTNAP4	16	76573710	Silent	SNP	C	TCGA-HC-8259-01A-11D-2260-08	59279312	76573710	13781043	59	9200											
ZC3H18	124245	broad.mit.edu	37	chr16	88694459	88694459	+	Frame_Shift_Del	DEL	C	C	-																															cctcgacaccccagcaggcaCcccccgggcagccccagcag																										TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr16:88694459delC	ENST00000301011.5	+	15	2601	c.2401delC	c.(2401-2403)ccfs	p.P802fs	ZC3H18_ENST00000452588.2_Frame_Shift_Del_p.P826fs	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	802						nucleus	nucleic acid binding|zinc ion binding	p.Q804fs*15(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CCAGCAGGCACCCCCCGGGCA	0.612													7	285	---	---	---	---						-	88694459	C	-	88694459	7	5	196	1	0	1	0	1	0	0	0	0	17627	507	18	0	2455	0	ZC3H18	16	88694459	Frame_Shift_Del	DEL	C	TCGA-HC-8259-01A-11D-2260-08	12120749	88694459	1660294	60	9201											
ANKRD11	29123	broad.mit.edu	37	chr16	89352043	89352043	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgcgaaggatggtgcgtcttCctcttctgagctctctgttg	4	15	12	10	2	4	1	0	1	4	0	6	3	5	2	1	2	3	2	1	2	1	3			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr16:89352043C>G	ENST00000301030.4	-	9	1367	c.907G>C	c.(907-909)Gaa>Caa	p.E303Q	ANKRD11_ENST00000378330.2_Missense_Mutation_p.E303Q	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	303						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GGTGCGTCTTCCTCTTCTGAG	0.567													4	53					0	0	1	0	0	G	89352043	C	G	89352043	3	3	196	1	0	0	0	0	1	0	0	0	635	864	30	4	7104	4	ANKRD11	16	89352043	Missense_Mutation	SNP	C	TCGA-HC-8259-01A-11D-2260-08	657584	89352043	1002710	61	9202											
SEZ6	124925	broad.mit.edu	37	chr17	27286418	27286418	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagatacaatcctgcccaCgaccgtagggctctggccag	9	6	10	16	2	1	1	0	0	1	1	2	2	2	1	5	2	2	2	5	2	3	2			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr17:27286418C>T	ENST00000317338.12	-	9	2272	c.1844G>A	c.(1843-1845)cGt>cAt	p.R615H	SEZ6_ENST00000335960.6_Intron|SEZ6_ENST00000442608.3_Missense_Mutation_p.R615H|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000360295.9_Missense_Mutation_p.R615H			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	615	CUB 2.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			ATCCTGCCCACGACCGTAGGG	0.622													4	76					0	0	1	0	0	T	27286418	C	T	27286418	3	4	196	1	0	0	0	0	1	0	0	0	14196	536	19	1	1189	1	SEZ6	17	27286418	Missense_Mutation	SNP	C	TCGA-HC-8259-01A-11D-2260-08		27286418	53908792	62	9203											
GGNBP2	79893	broad.mit.edu	37	chr17	34945807	34945807	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgatcacaagaggcccatttGtagtggctggttgacaacgg	10	10	13	8	1	1	3	1	2	0	1	1	3	1	3	1	4	1	3	1	4	3	3			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr17:34945807G>A	ENST00000304718.4	+	14	2376	c.2060G>A	c.(2059-2061)tGt>tAt	p.C687Y		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	687					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		AGGCCCATTTGTAGTGGCTGG	0.388													56	70					0	0	1	0	0	A	34945807	G	A	34945807	3	1	196	1	0	0	0	0	1	0	0	0	6401	1377	48	2	2110	2	GGNBP2	17	34945807	Missense_Mutation	SNP	G	TCGA-HC-8259-01A-11D-2260-08	7659389	34945807	46249403	63	9204											
TXNL1	9352	broad.mit.edu	37	chr18	54291518	54291518	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcacttttcagtctacataCatagccttttggaatatctg	10	17	5	9	0	4	0	2	0	2	0	4	1	4	1	1	1	3	0	1	1	5	9			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr18:54291518C>A	ENST00000217515.6	-	3	574		c.e3+1		TXNL1_ENST00000590954.1_Splice_Site|TXNL1_ENST00000540155.1_Splice_Site	NM_004786.2	NP_004777.1	O43396	TXNL1_HUMAN	thioredoxin-like 1						cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	cytoplasm	electron carrier activity|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211)		AGTCTACATACATAGCCTTTT	0.338													4	114					0.000602214	0.000638492	1	1	0	A	54291518	C	A	54291518	5	1	196	1	0	0	0	0	0	0	1	0	16866	492	17	4	523	4	TXNL1	18	54291518	Splice_Site	SNP	C	TCGA-HC-8259-01A-11D-2260-08		54291518	23785730	64	9205											
SERPINB2	5055	broad.mit.edu	37	chr18	61570299	61570299	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggacgccttcaacaagggAcgggccaatttctcagggat	11	7	13	10	2	2	0	2	0	1	0	3	4	2	3	2	4	1	0	2	4	3	2			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr18:61570299A>T	ENST00000457692.1	+	9	1341	c.1008A>T	c.(1006-1008)ggA>ggT	p.G336G	SERPINB2_ENST00000299502.4_Silent_p.G336G	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	336					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	TCAACAAGGGACGGGCCAATT	0.478													4	70					0	0	1	0	0	T	61570299	A	T	61570299	2	4	196	1	0	0	0	0	0	0	0	1	14155	262	10	5		5	SERPINB2	18	61570299	Silent	SNP	A	TCGA-HC-8259-01A-11D-2260-08	7278781	61570299	16506949	65	9206											
CNDP1	84735	broad.mit.edu	37	chr18	72223614	72223614	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgctgctgctggagcgCggcatgttctcctcaccctc	3	11	11	16	2	2	0	1	0	1	0	4	1	2	1	2	2	5	6	2	2	0	1			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr18:72223614C>T	ENST00000358821.3	+	2	294	c.66C>T	c.(64-66)cgC>cgT	p.R22R	CNDP1_ENST00000585136.1_3'UTR|CNDP1_ENST00000582365.1_Intron	NM_032649.5	NP_116038.4	Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	22					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		TGCTGGAGCGCGGCATGTTCT	0.557													5	106					0	0	1	0	0	T	72223614	C	T	72223614	2	4	196	1	0	0	0	0	0	0	0	1	3616	755	27	1		1	CNDP1	18	72223614	Silent	SNP	C	TCGA-HC-8259-01A-11D-2260-08	10653315	72223614	5853634	66	9207											
CHAF1A	10036	broad.mit.edu	37	chr19	4409410	4409410	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcccaggaatgttcgccacGgagctgcccggagctgacga	8	6	13	14	4	0	1	0	1	0	0	2	5	1	4	3	3	3	3	3	3	1	1			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr19:4409410G>A	ENST00000301280.5	+	3	715	c.614G>A	c.(613-615)cGg>cAg	p.R205Q		NM_005483.2	NP_005474.2	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	205	Binds to CBX1 chromo shadow domain.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTTCGCCACGGAGCTGCCCG	0.597								Chromatin Structure					31	30					0	0	1	0	0	A	4409410	G	A	4409410	3	1	196	1	0	0	0	0	1	0	0	0	3333	1116	39	1	624	1	CHAF1A	19	4409410	Missense_Mutation	SNP	G	TCGA-HC-8259-01A-11D-2260-08		4409410	54719573	67	9208											
NWD1	284434	broad.mit.edu	37	chr19	16872810	16872810	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagctggtcgaggtggtccGtgagcgctacctgtcaggat	7	9	15	10	3	1	1	1	1	0	0	3	3	2	2	2	4	3	2	2	4	1	1			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr19:16872810G>A	ENST00000524140.2	+	8	2412	c.1994G>A	c.(1993-1995)cGt>cAt	p.R665H	NWD1_ENST00000339803.6_Missense_Mutation_p.R530H|NWD1_ENST00000552788.1_Missense_Mutation_p.R665H|NWD1_ENST00000379808.3_Missense_Mutation_p.R665H|NWD1_ENST00000523826.1_Missense_Mutation_p.R459H|NWD1_ENST00000549814.1_Missense_Mutation_p.R665H	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	665							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GAGGTGGTCCGTGAGCGCTAC	0.572													22	34					0	0	1	0	0	A	16872810	G	A	16872810	3	1	196	1	0	0	0	0	1	0	0	0	10829	1145	40	1	1603	1	NWD1	19	16872810	Missense_Mutation	SNP	G	TCGA-HC-8259-01A-11D-2260-08	12463400	16872810	42256173	68	9209											
PBX4	80714	broad.mit.edu	37	chr19	19729418	19729418	+	Frame_Shift_Del	DEL	G	G	-																															ggggcggggggcgatggcgcGgggcgcggcggggcggccat																										TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr19:19729418delG	ENST00000251203.8	-	1	307	c.21delC	c.(19-21)ccfs	p.P7fs		NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN	pre-B-cell leukemia homeobox 4	7							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						gcgatggcgcggggcgcggcg	0.756													2	4	---	---	---	---						-	19729418	G	-	19729418	7	5	196	1	0	1	0	1	0	0	0	0	11542	1103	39	0	1135	0	PBX4	19	19729418	Frame_Shift_Del	DEL	G	TCGA-HC-8259-01A-11D-2260-08	2856608	19729418	39399565	69	9210											
KCNN4	3783	broad.mit.edu	37	chr19	44271798	44271798	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccgccagcgtgtcaatctgtTtctccagggcccggtgtgag	5	10	13	13	3	3	1	1	1	2	0	4	1	3	1	4	2	1	1	4	2	1	1			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr19:44271798T>G	ENST00000262888.3	-	8	1576	c.1181A>C	c.(1180-1182)aAa>aCa	p.K394T		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	394					defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)	GTCAATCTGTTTCTCCAGGGC	0.617													4	138					0	0	1	0	0	G	44271798	T	G	44271798	3	3	196	1	0	0	0	0	1	0	0	0	8125	1841	64	5	106	5	KCNN4	19	44271798	Missense_Mutation	SNP	T	TCGA-HC-8259-01A-11D-2260-08	24542380	44271798	14857185	70	9211											
MAVS	57506	broad.mit.edu	37	chr20	3843002	3843002	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctggcagccctcagcccTctgacctccagcgggcatca	7	6	10	18	1	3	1	2	1	1	0	4	2	4	1	5	2	3	2	5	2	0	0			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr20:3843002T>C	ENST00000428216.2	+	5	695	c.567T>C	c.(565-567)ccT>ccC	p.P189P	MAVS_ENST00000416600.2_Silent_p.P48P|MAVS_ENST00000358134.6_3'UTR	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	189					activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CCCTCAGCCCTCTGACCTCCA	0.587													3	58					0	0	1	0	0	C	3843002	T	C	3843002	2	2	196	1	0	0	0	0	0	0	0	1	9388	1538	54	3		3	MAVS	20	3843002	Silent	SNP	T	TCGA-HC-8259-01A-11D-2260-08		3843002	59182518	71	9212											
EEF1A2	1917	broad.mit.edu	37	chr20	62120459	62120459	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgtggcagtcgatgaccGgggagtagccggcgctaatc	7	8	16	10	4	0	1	0	1	0	0	2	3	0	2	2	4	1	3	2	4	2	2			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr20:62120459G>A	ENST00000217182.3	-	7	1241	c.1076C>T	c.(1075-1077)cCg>cTg	p.P359L	EEF1A2_ENST00000298049.7_Missense_Mutation_p.P359L	NM_001958.3	NP_001949.1	Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	359						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			GTCGATGACCGGGGAGTAGCC	0.642													3	55					0	0	1	0	0	A	62120459	G	A	62120459	3	1	196	1	0	0	0	0	1	0	0	0	4950	1116	39	1	323	1	EEF1A2	20	62120459	Missense_Mutation	SNP	G	TCGA-HC-8259-01A-11D-2260-08	58277457	62120459	905061	72	9213											
RTEL1	51750	broad.mit.edu	37	chr20	62324212	62324212	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagctcttcatggtggccGtgaagcaggagttgagccaa	10	8	13	10	1	2	2	1	2	1	0	2	3	2	3	3	3	3	3	3	3	3	2	rs143317975		TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr20:62324212G>A	ENST00000318100.4	+	29	3534	c.2707G>A	c.(2707-2709)Gtg>Atg	p.V903M	RTEL1_ENST00000508582.2_Missense_Mutation_p.V927M|RTEL1_ENST00000360203.5_Missense_Mutation_p.V903M|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.V903M|RTEL1_ENST00000370003.1_Missense_Mutation_p.V148M|RTEL1_ENST00000370018.3_Missense_Mutation_p.V903M			Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	903					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CATGGTGGCCGTGAAGCAGGA	0.642													3	117					0	0	1	0	0	A	62324212	G	A	62324212	3	1	196	1	0	0	0	0	1	0	0	0	13772	1145	40	1	2817	1	RTEL1	20	62324212	Missense_Mutation	SNP	G	TCGA-HC-8259-01A-11D-2260-08	203753	62324212	701308	73	9214											
BAGE2	85319	broad.mit.edu	37	chr21	11085531	11085533	+	RNA	DEL	AAA	AAA	-																															ccaccaccaccaccaccactAaaaccacgaccaccaccacc																										TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr21:11085531_11085533delAAA	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)		caccaccactaaaaccacgacca	0.596													3	5	---	---	---	---						-	11085533	AAA	-	11085531	6	5	196	0	1	1	0	1	0	0	0	0	1290	377	13	0		0	BAGE2	21	11085531	RNA	DEL	AAA	TCGA-HC-8259-01A-11D-2260-08		11085531	37044364	74	9215											
SEC14L2	23541	broad.mit.edu	37	chr22	30812287	30812287	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctgaagaccaagatgggaGagaggcagcgggcaggggag	12	3	19	7	1	0	4	0	1	0	3	1	7	1	6	2	5	1	2	2	5	2	0			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chr22:30812287G>A	ENST00000312932.9	+	11	1236	c.976G>A	c.(976-978)Gag>Aag	p.E326K	SEC14L2_ENST00000405717.3_Missense_Mutation_p.E326K|RP4-539M6.19_ENST00000439838.1_Missense_Mutation_p.E160K|SEC14L2_ENST00000403484.1_Missense_Mutation_p.E252K|SEC14L2_ENST00000402592.3_Missense_Mutation_p.E243K	NM_012429.3	NP_036561.1	O76054	S14L2_HUMAN	SEC14-like 2 (S. cerevisiae)	326	GOLD.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	phospholipid binding|transporter activity|vitamin E binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	10					Vitamin E(DB00163)	CAAGATGGGAGAGAGGCAGCG	0.537													3	73					0	0	1	0	0	A	30812287	G	A	30812287	3	1	196	1	0	0	0	0	1	0	0	0	14036	943	33	2	1018	2	SEC14L2	22	30812287	Missense_Mutation	SNP	G	TCGA-HC-8259-01A-11D-2260-08		30812287	20492279	75	9216											
MBTPS2	51360	broad.mit.edu	37	chrX	21857869	21857871	+	In_Frame_Del	DEL	TGG	TGG	-																															cgccatgattccggtgtcgcTggtggtggtggtggtgggtg																										TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chrX:21857869_21857871delTGG	ENST00000365779.2	+	1	98_100	c.17_19delTGG	c.(16-21)ctg>c	p.LV6del	MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000379484.5_In_Frame_Del_p.LV6del			O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	6					cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						CCGGTGTCGCTGGTGGTGGTGGT	0.685													3	4	---	---	---	---						-	21857871	TGG	-	21857869	7	5	196	1	0	1	0	1	0	0	0	0	9412	1580	55	0	19	0	MBTPS2	23	21857869	In_Frame_Del	DEL	TGG	TCGA-HC-8259-01A-11D-2260-08		21857869	133412691	76	9217											
FAM47C	442444	broad.mit.edu	37	chrX	37027156	37027156	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtgtcccatctccgcccaCagcctcccaagactcaggtg	8	7	9	17	1	2	1	1	0	1	1	5	2	4	1	5	1	1	0	5	1	1	0			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chrX:37027156C>G	ENST00000358047.3	+	1	725	c.673C>G	c.(673-675)Cag>Gag	p.Q225E		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	225										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TCTCCGCCCACAGCCTCCCAA	0.647													3	44					0	0	1	0	0	G	37027156	C	G	37027156	3	3	196	1	0	0	0	0	1	0	0	0	5607	479	17	4	675	4	FAM47C	23	37027156	Missense_Mutation	SNP	C	TCGA-HC-8259-01A-11D-2260-08	15169287	37027156	118243404	77	9218											
FAM47C	442444	broad.mit.edu	37	chrX	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctccgcccggagcctcccAatactggagtgtcccatctc	6	9	9	17	2	2	0	0	0	2	0	6	2	4	2	5	2	2	0	5	2	2	1	rs145580328	byFrequency	TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642													4	69					0	0	1	0	0	G	37028425	A	G	37028425	3	3	196	1	0	0	0	0	1	0	0	0	5607	130	5	3	1944	3	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-HC-8259-01A-11D-2260-08	1269	37028425	118242135	78	9219											
IRS4	8471	broad.mit.edu	37	chrX	107977561	107977561	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatctctgcatctttcacttCtttggcttctttgcattctt	4	21	5	11	0	6	0	1	0	5	0	7	1	6	0	0	1	2	3	0	1	0	7			TCGA-HC-8259-01A-11D-2260-08	TCGA-HC-8259-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a3672a-baa0-4d94-aad4-c88dfc3d357f	a537ec83-4cbe-4ddc-9116-39468c6bd4bb	g.chrX:107977561C>G	ENST00000372129.2	-	1	2090	c.2014G>C	c.(2014-2016)Gaa>Caa	p.E672Q		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	672						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						TCTTTCACTTCTTTGGCTTCT	0.498													33	165					0	0	1	0	0	G	107977561	C	G	107977561	3	3	196	1	0	0	0	0	1	0	0	0	7886	922	32	4	1763	4	IRS4	23	107977561	Missense_Mutation	SNP	C	TCGA-HC-8259-01A-11D-2260-08	70949136	107977561	47292999	79	9220											
MEX3A	92312	broad.mit.edu	37	chr1	156046660	156046660	+	Frame_Shift_Del	DEL	G	G	-																															caggggagcggtgtgcgcccGggggcccagcgcgggccttg																										TCGA-HC-8260-01A-11D-2260-08	TCGA-HC-8260-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac240fae-de3a-4831-af2d-0047fca54825	16d78baa-531a-4ec3-a6fa-d68143626080	g.chr1:156046660delG	ENST00000532414.2	-	2	1267	c.1268delC	c.(1267-1269)cgfs	p.P423fs		NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A	423						cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					GTGTGCGCCCGGGGGCCCAGC	0.731													2	4	---	---	---	---						-	156046660	G	-	156046660	7	5	197	1	0	1	0	1	0	0	0	0	9559	1116	39	0	298	0	MEX3A	1	156046660	Frame_Shift_Del	DEL	G	TCGA-HC-8260-01A-11D-2260-08		156046660	93203961	1	9221											
GCG	2641	broad.mit.edu	37	chr2	163005635	163005635	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttgaagggaacgttgccaGctgccttgtaccagcattac	9	11	10	11	1	1	1	0	1	1	0	1	2	1	2	3	1	7	4	3	1	4	5			TCGA-HC-8260-01A-11D-2260-08	TCGA-HC-8260-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac240fae-de3a-4831-af2d-0047fca54825	16d78baa-531a-4ec3-a6fa-d68143626080	g.chr2:163005635G>A	ENST00000418842.2	-	2	308	c.54C>T	c.(52-54)agC>agT	p.S18S	GCG_ENST00000375497.3_Silent_p.S18S	NM_002054.4	NP_002045.1	P01275	GLUC_HUMAN	glucagon	18					cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion	plasma membrane|soluble fraction	hormone activity			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14					Exenatide(DB01276)|Phentolamine(DB00692)	AACGTTGCCAGCTGCCTTGTA	0.438													10	77					0	0	1	0	0	A	163005635	G	A	163005635	2	1	197	1	0	0	0	0	0	0	0	1	6330	962	34	2		2	GCG	2	163005635	Silent	SNP	G	TCGA-HC-8260-01A-11D-2260-08		163005635	80193738	2	9222											
PCDHA13	0	broad.mit.edu	37	chr5	140263757	140263757	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcgagatcagcacgacgcGccctctggacgaggtggacg	8	5	16	12	6	2	1	1	0	1	1	2	6	2	3	1	4	1	1	1	4	0	0	rs142435897		TCGA-HC-8260-01A-11D-2260-08	TCGA-HC-8260-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac240fae-de3a-4831-af2d-0047fca54825	16d78baa-531a-4ec3-a6fa-d68143626080	g.chr5:140263757G>A	ENST00000289272.2	+	1	1904	c.1904G>A	c.(1903-1905)cGc>cAc	p.R635H	PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.R635H|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCACGACGCGCCCTCTGGAC	0.677													19	87					0	0	1	0	0	A	140263757	G	A	140263757	3	1	197	1	0	0	0	0	1	0	0	0	11570	1087	38	1	1906	1	PCDHA13	5	140263757	Missense_Mutation	SNP	G	TCGA-HC-8260-01A-11D-2260-08		140263757	40651503	3	9223											
GCC1	79571	broad.mit.edu	37	chr7	127222427	127222427	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttgcgggccagttgctcagCgtacagaaagaaagtgggct	10	8	14	9	2	1	2	1	0	0	2	1	2	1	2	1	2	4	4	1	2	3	3			TCGA-HC-8260-01A-11D-2260-08	TCGA-HC-8260-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac240fae-de3a-4831-af2d-0047fca54825	16d78baa-531a-4ec3-a6fa-d68143626080	g.chr7:127222427C>T	ENST00000321407.2	-	2	2393	c.1969G>A	c.(1969-1971)Gct>Act	p.A657T		NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	657						Golgi membrane|plasma membrane	protein binding			breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						AGTTGCTCAGCGTACAGAAAG	0.577													4	49					0	0	1	0	0	T	127222427	C	T	127222427	3	4	197	1	0	0	0	0	1	0	0	0	6325	768	27	1	362	1	GCC1	7	127222427	Missense_Mutation	SNP	C	TCGA-HC-8260-01A-11D-2260-08		127222427	31916236	4	9224											
FAM171A1	221061	broad.mit.edu	37	chr10	15255016	15255016	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcgtcttcctcttcctcGtgggcagatcttctctggtg	3	16	9	13	2	5	1	1	0	4	1	10	1	7	1	2	2	0	1	2	2	0	3			TCGA-HC-8260-01A-11D-2260-08	TCGA-HC-8260-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac240fae-de3a-4831-af2d-0047fca54825	16d78baa-531a-4ec3-a6fa-d68143626080	g.chr10:15255016G>A	ENST00000378116.4	-	8	2577	c.2571C>T	c.(2569-2571)caC>caT	p.H857H		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	857						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						CCTCTTCCTCGTGGGCAGATC	0.592													6	68					0	0	1	0	0	A	15255016	G	A	15255016	2	1	197	1	0	0	0	0	0	0	0	1	5520	1136	40	1		1	FAM171A1	10	15255016	Silent	SNP	G	TCGA-HC-8260-01A-11D-2260-08		15255016	120279731	5	9225											
TET1	80312	broad.mit.edu	37	chr10	70332588	70332588	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccaatgcaagacacccaaGtccttcctgatatagagact	13	10	6	12	0	0	3	0	1	0	2	3	4	3	3	4	0	1	1	4	0	5	4			TCGA-HC-8260-01A-11D-2260-08	TCGA-HC-8260-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac240fae-de3a-4831-af2d-0047fca54825	16d78baa-531a-4ec3-a6fa-d68143626080	g.chr10:70332588G>C	ENST00000373644.4	+	2	702	c.493G>C	c.(493-495)Gtc>Ctc	p.V165L		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	165					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AGACACCCAAGTCCTTCCTGA	0.398													4	39					0	0	1	0	0	C	70332588	G	C	70332588	3	2	197	1	0	0	0	0	1	0	0	0	15828	1029	36	4	495	4	TET1	10	70332588	Missense_Mutation	SNP	G	TCGA-HC-8260-01A-11D-2260-08	55077572	70332588	65202159	6	9226											
MAT1A	4143	broad.mit.edu	37	chr10	82034334	82034334	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccacatccagcagctctcGctctgtcttctgagaggttc	7	11	8	15	1	4	1	0	1	4	1	7	2	5	1	2	1	2	4	2	1	0	2			TCGA-HC-8260-01A-11D-2260-08	TCGA-HC-8260-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac240fae-de3a-4831-af2d-0047fca54825	16d78baa-531a-4ec3-a6fa-d68143626080	g.chr10:82034334G>A	ENST00000372213.3	-	8	1287	c.1027C>T	c.(1027-1029)Cga>Tga	p.R343*	MAT1A_ENST00000485270.1_5'UTR	NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	343					methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity			endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	AGCAGCTCTCGCTCTGTCTTC	0.557													6	67					0	0	1	0	0	A	82034334	G	A	82034334	4	1	197	1	0	0	0	0	0	1	0	0	9379	1095	38	1	168	1	MAT1A	10	82034334	Nonsense_Mutation	SNP	G	TCGA-HC-8260-01A-11D-2260-08	11701746	82034334	53500413	7	9227											
ATM	472	broad.mit.edu	37	chr11	108205765	108205765	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagcagaatttcgcttagcaGgaggtgtaaatttaccaaaa	16	10	9	6	1	0	1	0	0	0	1	1	2	0	2	1	2	3	4	1	2	8	5			TCGA-HC-8260-01A-11D-2260-08	TCGA-HC-8260-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac240fae-de3a-4831-af2d-0047fca54825	16d78baa-531a-4ec3-a6fa-d68143626080	g.chr11:108205765G>A	ENST00000278616.4	+	55	8465	c.8080G>A	c.(8080-8082)Gga>Aga	p.G2694R	ATM_ENST00000452508.2_Missense_Mutation_p.G2694R|C11orf65_ENST00000525729.1_Intron	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2694					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.G2695delG(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TCGCTTAGCAGGAGGTGTAAA	0.398			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			6	23					0	0	1	0	0	A	108205765	G	A	108205765	3	1	197	1	0	0	0	0	1	0	0	0	1108	1001	35	2	8294	2	ATM	11	108205765	Missense_Mutation	SNP	G	TCGA-HC-8260-01A-11D-2260-08		108205765	26800751	8	9228											
BAHD1	22893	broad.mit.edu	37	chr15	40754435	40754435	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcgccgccgccgtcgccGccgcactaatggctgggtac	4	6	12	19	7	0	0	0	0	0	0	2	0	0	0	6	2	1	3	6	2	2	2	rs143007309		TCGA-HC-8260-01A-11D-2260-08	TCGA-HC-8260-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac240fae-de3a-4831-af2d-0047fca54825	16d78baa-531a-4ec3-a6fa-d68143626080	g.chr15:40754435G>A	ENST00000561234.1	+	3	2013	c.1754G>A	c.(1753-1755)cGc>cAc	p.R585H	BAHD1_ENST00000560846.1_Missense_Mutation_p.R586H|BAHD1_ENST00000416165.1_Missense_Mutation_p.R586H			Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	586	Arg-rich.				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CGCCGTCGCCGCCGCACTAAT	0.647													4	95					0	0	1	0	0	A	40754435	G	A	40754435	3	1	197	1	0	0	0	0	1	0	0	0	1295	1087	38	1	1763	1	BAHD1	15	40754435	Missense_Mutation	SNP	G	TCGA-HC-8260-01A-11D-2260-08		40754435	61776957	9	9229											
PLCG2	5336	broad.mit.edu	37	chr16	81965227	81965227	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttgagtggtttcagagcAtccgagagatcacctggaag	10	11	12	8	1	3	3	2	1	1	2	4	6	4	4	2	2	1	2	2	2	1	2			TCGA-HC-8260-01A-11D-2260-08	TCGA-HC-8260-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac240fae-de3a-4831-af2d-0047fca54825	16d78baa-531a-4ec3-a6fa-d68143626080	g.chr16:81965227A>G	ENST00000359376.3	+	25	2921	c.2707A>G	c.(2707-2709)Atc>Gtc	p.I903V		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	903					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GTTTCAGAGCATCCGAGAGAT	0.577													5	61					0	0	1	0	0	G	81965227	A	G	81965227	3	3	197	1	0	0	0	0	1	0	0	0	12084	217	8	3	2801	3	PLCG2	16	81965227	Missense_Mutation	SNP	A	TCGA-HC-8260-01A-11D-2260-08		81965227	8389526	10	9230											
ZCCHC14	23174	broad.mit.edu	37	chr16	87445898	87445898	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctgtgtacagagcagtcCgggggtttattattgcaggg	7	12	16	6	1	0	1	0	0	0	1	1	1	1	1	1	4	3	5	1	4	3	5			TCGA-HC-8260-01A-11D-2260-08	TCGA-HC-8260-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac240fae-de3a-4831-af2d-0047fca54825	16d78baa-531a-4ec3-a6fa-d68143626080	g.chr16:87445898C>A	ENST00000268616.4	-	12	2235	c.2018G>T	c.(2017-2019)cGg>cTg	p.R673L		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	673					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		CAGAGCAGTCCGGGGGTTTAT	0.507													9	73					6.40141e-05	6.87559e-05	1	1	0	A	87445898	C	A	87445898	3	1	197	1	0	0	0	0	1	0	0	0	17642	652	23	4	839	4	ZCCHC14	16	87445898	Missense_Mutation	SNP	C	TCGA-HC-8260-01A-11D-2260-08	5480671	87445898	2908855	11	9231											
TSR1	55720	broad.mit.edu	37	chr17	2236286	2236286	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccataaaatcctcatgtTccatatcatcatattcatat	13	15	1	12	0	4	0	4	0	0	0	7	0	7	0	4	0	0	1	4	0	5	6			TCGA-HC-8260-01A-11D-2260-08	TCGA-HC-8260-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac240fae-de3a-4831-af2d-0047fca54825	16d78baa-531a-4ec3-a6fa-d68143626080	g.chr17:2236286T>C	ENST00000301364.4	-	7	2353	c.1274A>G	c.(1273-1275)gAa>gGa	p.E425G		NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)	425	Glu-rich.				ribosome assembly	nucleolus	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						ATCCTCATGTTCCATATCATC	0.448													5	28					0	0	1	0	0	C	2236286	T	C	2236286	3	2	197	1	0	0	0	0	1	0	0	0	16725	1783	62	3	1176	3	TSR1	17	2236286	Missense_Mutation	SNP	T	TCGA-HC-8260-01A-11D-2260-08		2236286	78958924	12	9232											
RUNDC3A	10900	broad.mit.edu	37	chr17	42390845	42390845	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtcagaatacatcaccacGgctctgcgtgacacccggac	11	7	9	14	3	3	2	2	1	1	1	3	3	3	3	2	2	2	1	2	2	2	1			TCGA-HC-8260-01A-11D-2260-08	TCGA-HC-8260-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac240fae-de3a-4831-af2d-0047fca54825	16d78baa-531a-4ec3-a6fa-d68143626080	g.chr17:42390845G>A	ENST00000426726.3	+	4	706	c.432G>A	c.(430-432)acG>acA	p.T144T	AC003102.3_ENST00000588097.1_RNA|RUNDC3A_ENST00000225441.7_Silent_p.T144T|RUNDC3A_ENST00000590941.1_Silent_p.T139T	NM_001144825.1	NP_001138297.1	Q59EK9	RUN3A_HUMAN	RUN domain containing 3A	144	Interaction with RAP2A (By similarity).|RUN.				small GTPase mediated signal transduction		small GTPase regulator activity			large_intestine(1)|lung(1)|ovary(2)	4		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		ACATCACCACGGCTCTGCGTG	0.567													4	45					0	0	1	0	0	A	42390845	G	A	42390845	2	1	197	1	0	0	0	0	0	0	0	1	13796	1103	39	1		1	RUNDC3A	17	42390845	Silent	SNP	G	TCGA-HC-8260-01A-11D-2260-08	40154559	42390845	38804365	13	9233											
ENOSF1	55556	broad.mit.edu	37	chr18	697346	697346	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtgggcgagggcattcacaGcacagacaactatttaaaaa	15	7	11	8	1	1	1	1	0	0	1	1	2	1	1	0	3	2	2	0	3	5	4			TCGA-HC-8260-01A-11D-2260-08	TCGA-HC-8260-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac240fae-de3a-4831-af2d-0047fca54825	16d78baa-531a-4ec3-a6fa-d68143626080	g.chr18:697346G>A	ENST00000251101.7	-	3	291	c.203C>T	c.(202-204)gCt>gTt	p.A68V	ENOSF1_ENST00000580982.1_Intron|ENOSF1_ENST00000383578.3_Intron|ENOSF1_ENST00000340116.7_Missense_Mutation_p.A89V|ENOSF1_ENST00000539164.1_Missense_Mutation_p.A68V	NM_017512.5	NP_059982.2	Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1	68					cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						GGCATTCACAGCACAGACAAC	0.428													5	85					0	0	1	0	0	A	697346	G	A	697346	3	1	197	1	0	0	0	0	1	0	0	0	5153	971	34	2	1184	2	ENOSF1	18	697346	Missense_Mutation	SNP	G	TCGA-HC-8260-01A-11D-2260-08		697346	77379902	14	9234											
SBNO2	22904	broad.mit.edu	37	chr19	1114389	1114389	+	Frame_Shift_Del	DEL	G	G	-																															cgctgtctcgcacgccagccGgggggctttggccccgcgtc																										TCGA-HC-8260-01A-11D-2260-08	TCGA-HC-8260-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac240fae-de3a-4831-af2d-0047fca54825	16d78baa-531a-4ec3-a6fa-d68143626080	g.chr19:1114389delG	ENST00000361757.3	-	18	2155	c.1918delC	c.(1918-1920)ggfs	p.R640fs	SBNO2_ENST00000438103.2_Frame_Shift_Del_p.R583fs|SBNO2_ENST00000587024.1_Frame_Shift_Del_p.R630fs	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	640					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACGCCAGCCGGGGGGCTTTG	0.697													2	4	---	---	---	---						-	1114389	G	-	1114389	7	5	197	1	0	1	0	1	0	0	0	0	13916	1115	39	0	2242	0	SBNO2	19	1114389	Frame_Shift_Del	DEL	G	TCGA-HC-8260-01A-11D-2260-08		1114389	58014594	15	9235											
ATG4D	84971	broad.mit.edu	37	chr19	10663643	10663643	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggaccacagcctggacgAcctctgctcccagctcgccc	7	6	9	19	2	2	0	1	0	1	0	4	3	3	2	5	2	3	2	5	2	0	0			TCGA-HC-8260-01A-11D-2260-08	TCGA-HC-8260-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac240fae-de3a-4831-af2d-0047fca54825	16d78baa-531a-4ec3-a6fa-d68143626080	g.chr19:10663643A>G	ENST00000309469.4	+	10	1498	c.1325A>G	c.(1324-1326)gAc>gGc	p.D442G	ATG4D_ENST00000540862.1_Missense_Mutation_p.D109G	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	442					autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			AGCCTGGACGACCTCTGCTCC	0.642													3	61					0	0	1	0	0	G	10663643	A	G	10663643	3	3	197	1	0	0	0	0	1	0	0	0	1098	275	10	3	1363	3	ATG4D	19	10663643	Missense_Mutation	SNP	A	TCGA-HC-8260-01A-11D-2260-08	9549254	10663643	48465340	16	9236											
PADI4	23569	broad.mit.edu	37	chr1	17690079	17690079	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccttcgggcccgtcatcaaCggccgctgctgcctggagga	5	7	13	16	4	2	0	2	0	0	0	3	2	2	2	4	4	3	2	4	4	1	1	rs143565531		TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr1:17690079C>T	ENST00000375448.4	+	16	1847	c.1821C>T	c.(1819-1821)aaC>aaT	p.N607N		NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	607					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	CCGTCATCAACGGCCGCTGCT	0.612													16	20					0	0	1	0	0	T	17690079	C	T	17690079	2	4	198	1	0	0	0	0	0	0	0	1	11427	535	19	1		1	PADI4	1	17690079	Silent	SNP	C	TCGA-HC-8261-01A-11D-2260-08		17690079	231560542	1	9237											
HTR1D	3352	broad.mit.edu	37	chr1	23520453	23520453	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgggcattaccaagatggaaAccaagaggtcggtggtggcc	11	7	15	8	1	0	2	0	0	0	2	1	3	0	3	3	6	2	1	3	6	4	1			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr1:23520453A>G	ENST00000374619.1	-	1	769	c.260T>C	c.(259-261)gTt>gCt	p.V87A	HTR1D_ENST00000314113.3_Missense_Mutation_p.V87A	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	87					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CAAGATGGAAACCAAGAGGTC	0.532													45	145					0	0	1	0	0	G	23520453	A	G	23520453	3	3	198	1	0	0	0	0	1	0	0	0	7482	43	2	3	877	3	HTR1D	1	23520453	Missense_Mutation	SNP	A	TCGA-HC-8261-01A-11D-2260-08	5830374	23520453	225730168	2	9238											
NCK2	8440	broad.mit.edu	37	chr2	106497794	106497794	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtctccacaggcctcggcaaGacgcgcaggaagaccagcgc	10	3	13	15	4	1	2	0	0	1	2	3	3	1	3	3	3	1	2	3	3	2	0			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr2:106497794G>A	ENST00000233154.4	+	4	679	c.237G>A	c.(235-237)aaG>aaA	p.K79K	NCK2_ENST00000451463.2_Intron|NCK2_ENST00000522586.1_Intron|NCK2_ENST00000393349.2_Silent_p.K79K	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	79					axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity			endometrium(1)|lung(3)|ovary(1)	5						GCCTCGGCAAGACGCGCAGGA	0.672													10	28					0	0	1	0	0	A	106497794	G	A	106497794	2	1	198	1	0	0	0	0	0	0	0	1	10267	933	33	2		2	NCK2	2	106497794	Silent	SNP	G	TCGA-HC-8261-01A-11D-2260-08		106497794	136701579	3	9239											
ZNF142	7701	broad.mit.edu	37	chr2	219507893	219507893	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgagtcctcagagcccgttCctgctggcagctaaagggac	8	8	13	12	1	1	2	1	1	0	1	3	3	3	3	3	2	3	4	3	2	2	2			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr2:219507893C>A	ENST00000411696.2	-	7	4125	c.3346G>T	c.(3346-3348)Gaa>Taa	p.E1116*	ZNF142_ENST00000449707.1_Nonsense_Mutation_p.E1116*			P52746	ZN142_HUMAN	zinc finger protein 142	1116					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AGAGCCCGTTCCTGCTGGCAG	0.602													5	67					0.000602214	0.000621034	1	1	0	A	219507893	C	A	219507893	4	1	198	1	0	0	0	0	0	1	0	0	17789	864	30	4	1729	4	ZNF142	2	219507893	Nonsense_Mutation	SNP	C	TCGA-HC-8261-01A-11D-2260-08	113010099	219507893	23691480	4	9240											
SPEG	10290	broad.mit.edu	37	chr2	220337707	220337707	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgggagccagggtgggcaGccacagggctgcgtaagggg	7	4	21	9	2	0	0	0	0	0	0	0	1	0	1	2	6	4	3	2	6	1	1			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr2:220337707G>A	ENST00000312358.7	+	16	4168	c.4036G>A	c.(4036-4038)Gcc>Acc	p.A1346T	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1346	Fibronectin type-III 1.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AGGGTGGGCAGCCACAGGGCT	0.662													3	58					0	0	1	0	0	A	220337707	G	A	220337707	3	1	198	1	0	0	0	0	1	0	0	0	15092	971	34	2	4110	2	SPEG	2	220337707	Missense_Mutation	SNP	G	TCGA-HC-8261-01A-11D-2260-08	829814	220337707	22861666	5	9241											
MFN1	55669	broad.mit.edu	37	chr3	179085842	179085842	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggtgtggcacttgctgaagGatttcatgcaagattacagg	11	11	13	6	0	1	2	1	1	0	1	1	3	1	3	0	4	3	3	0	4	3	3			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr3:179085842G>T	ENST00000471841.1	+	9	1052	c.926G>T	c.(925-927)gGa>gTa	p.G309V	MFN1_ENST00000280653.7_Missense_Mutation_p.G309V|MFN1_ENST00000263969.5_Missense_Mutation_p.G309V	NM_033540.2	NP_284941.2	Q8IWA4	MFN1_HUMAN	mitofusin 1	309					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			CTTGCTGAAGGATTTCATGCA	0.333													3	51					0.014758	0.014985	1	1	0	T	179085842	G	T	179085842	3	4	198	1	0	0	0	0	1	0	0	0	9573	1174	41	4	956	4	MFN1	3	179085842	Missense_Mutation	SNP	G	TCGA-HC-8261-01A-11D-2260-08		179085842	18936588	6	9242											
GBA3	57733	broad.mit.edu	37	chr4	22729298	22729299	+	RNA	INS	-	-	T																															gcacccacttttctttcacaINSttttcaaatgaagatggaga																										TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr4:22729298_22729299insT	ENST00000503442.1	+	0	149				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000511446.1_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TTTCTTTCACATTTTCAAATGA	0.421													58	119	---	---	---	---						T	22729299	-	T	22729298	6	5	198	0	1	1	1	0	0	0	0	0	6308	232	8	0		0	GBA3	4	22729298	RNA	INS	-	TCGA-HC-8261-01A-11D-2260-08		22729298	168424978	7	9243											
SHROOM3	57619	broad.mit.edu	37	chr4	77677870	77677870	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaaagtcagtcctgatcctCagaagagttcagaagacatc	15	8	9	9	0	3	6	3	1	0	5	6	6	5	6	2	0	0	1	2	0	3	1			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr4:77677870C>T	ENST00000296043.6	+	8	5931	c.4978C>T	c.(4978-4980)Cag>Tag	p.Q1660*		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1660					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TCCTGATCCTCAGAAGAGTTC	0.488													5	64					0	0	1	0	0	T	77677870	C	T	77677870	4	4	198	1	0	0	0	0	0	1	0	0	14350	827	29	2	5008	2	SHROOM3	4	77677870	Nonsense_Mutation	SNP	C	TCGA-HC-8261-01A-11D-2260-08	54948572	77677870	113476406	8	9244											
RANBP9	10048	broad.mit.edu	37	chr6	13711709	13711709	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgttgctgctgctgcGgcggcggcggcggcggctgc	0	8	20	13	6	0	0	0	0	0	0	0	0	0	0	0	6	6	7	0	6	0	1			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr6:13711709G>T	ENST00000011619.3	-	1	87	c.29C>A	c.(28-30)cCg>cAg	p.P10Q		NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	10	Poly-Pro.				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			ctgctgctgcggcggcggcgg	0.761													3	12					1.024e-07	1.07276e-07	1	1	0	T	13711709	G	T	13711709	3	4	198	1	0	0	0	0	1	0	0	0	13084	1116	39	4	2216	4	RANBP9	6	13711709	Missense_Mutation	SNP	G	TCGA-HC-8261-01A-11D-2260-08		13711709	157403358	9	9245											
HLA-G	3135	broad.mit.edu	37	chr6	29797242	29797242	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	accctgtctttgactatgagGccaccctgaggtgctgggcc	6	10	12	13	0	1	3	0	3	1	0	1	3	1	3	4	3	1	1	4	3	1	2			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr6:29797242G>A	ENST00000428701.1	+	5	845	c.667G>A	c.(667-669)Gcc>Acc	p.A223T	HLA-G_ENST00000376828.2_Missense_Mutation_p.A228T|HLA-G_ENST00000376815.3_Intron|HLA-G_ENST00000360323.6_Missense_Mutation_p.A223T|HLA-G_ENST00000376818.3_Missense_Mutation_p.A131T	NM_002127.5	NP_002118.1	P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	223	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						TGACTATGAGGCCACCCTGAG	0.582													9	192					0	0	1	0	0	A	29797242	G	A	29797242	3	1	198	1	0	0	0	0	1	0	0	0	7253	1203	42	2	681	2	HLA-G	6	29797242	Missense_Mutation	SNP	G	TCGA-HC-8261-01A-11D-2260-08	16085533	29797242	141317825	10	9246											
ENPP4	22875	broad.mit.edu	37	chr6	46107609	46107609	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaattccatgtatgatgcaGtcacaaagaaacacttttct	14	13	5	9	0	2	2	1	1	1	1	3	2	3	2	1	0	2	2	1	0	4	5			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr6:46107609G>A	ENST00000321037.4	+	2	519	c.289G>A	c.(289-291)Gtc>Atc	p.V97I		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	97						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						GTATGATGCAGTCACAAAGAA	0.388													3	96					0	0	1	0	0	A	46107609	G	A	46107609	3	1	198	1	0	0	0	0	1	0	0	0	5160	1029	36	2	291	2	ENPP4	6	46107609	Missense_Mutation	SNP	G	TCGA-HC-8261-01A-11D-2260-08	16310367	46107609	125007458	11	9247											
CDK19	23097	broad.mit.edu	37	chr6	110944514	110944514	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaggaacactttgctgtcAggcttgaccttgtgtttctc	8	14	10	9	0	2	2	1	1	1	1	3	3	2	3	1	2	2	3	1	2	2	4			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr6:110944514A>T	ENST00000368911.3	-	9	1091	c.912T>A	c.(910-912)ccT>ccA	p.P304P	CDK19_ENST00000323817.3_Silent_p.P244P|CDK19_ENST00000413605.2_Silent_p.P180P	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN	cyclin-dependent kinase 19	304	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						CTTTGCTGTCAGGCTTGACCT	0.458													3	123					0	0	1	0	0	T	110944514	A	T	110944514	2	4	198	1	0	0	0	0	0	0	0	1	3157	175	7	5		5	CDK19	6	110944514	Silent	SNP	A	TCGA-HC-8261-01A-11D-2260-08	64836905	110944514	60170553	12	9248											
FAM120A	23196	broad.mit.edu	37	chr9	96320951	96320951	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcggcagcatcgggacactgCggagccttctcaggcagtga	8	6	15	12	3	1	1	1	1	1	0	3	3	1	3	1	4	3	3	1	4	0	1			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr9:96320951C>T	ENST00000277165.6	+	15	2951	c.2757C>T	c.(2755-2757)tgC>tgT	p.C919C	FAM120A_ENST00000340893.4_Intron|FAM120A_ENST00000333936.5_Silent_p.C947C	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	919	RNA binding.					cytoplasm|plasma membrane	RNA binding			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CGGGACACTGCGGAGCCTTCT	0.622													17	41					0	0	1	0	0	T	96320951	C	T	96320951	2	4	198	1	0	0	0	0	0	0	0	1	5446	776	27	1		1	FAM120A	9	96320951	Silent	SNP	C	TCGA-HC-8261-01A-11D-2260-08		96320951	44892480	13	9249											
DHTKD1	55526	broad.mit.edu	37	chr10	12133636	12133636	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	taataaccagctgggttacaCcactccagctgaaagaggaa	15	7	9	10	0	0	2	0	1	0	1	1	3	1	3	3	2	4	3	3	2	5	3			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr10:12133636C>T	ENST00000263035.4	+	6	1174	c.1112C>T	c.(1111-1113)aCc>aTc	p.T371I	DHTKD1_ENST00000465617.1_Intron	NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	371					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			CTGGGTTACACCACTCCAGCT	0.448													5	91					0	0	1	0	0	T	12133636	C	T	12133636	3	4	198	1	0	0	0	0	1	0	0	0	4528	507	18	2	1134	2	DHTKD1	10	12133636	Missense_Mutation	SNP	C	TCGA-HC-8261-01A-11D-2260-08		12133636	123401111	14	9250											
FAM53B	9679	broad.mit.edu	37	chr10	126370270	126370270	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcttgtcgttaaggacaCacggctgggagcggctgcgg	6	9	15	11	4	1	0	0	0	1	0	2	2	1	2	1	5	2	3	1	5	1	3			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr10:126370270C>G	ENST00000337318.3	-	4	1023	c.812G>C	c.(811-813)tGt>tCt	p.C271S	FAM53B_ENST00000392754.3_Missense_Mutation_p.C271S|FAM53B_ENST00000280780.6_Missense_Mutation_p.C271S|RP11-12J10.3_ENST00000494792.1_3'UTR	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	271										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		GTTAAGGACACACGGCTGGGA	0.577													3	7					0	0	1	0	0	G	126370270	C	G	126370270	3	3	198	1	0	0	0	0	1	0	0	0	5616	478	17	4	464	4	FAM53B	10	126370270	Missense_Mutation	SNP	C	TCGA-HC-8261-01A-11D-2260-08	114236634	126370270	9164477	15	9251											
DCHS1	8642	broad.mit.edu	37	chr11	6652623	6652623	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgtcaccagtgttcccggagGcacgcggtctggtacctgtg	5	9	14	13	4	2	0	1	0	1	0	3	1	3	1	3	4	1	3	3	4	1	2			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr11:6652623G>C	ENST00000299441.3	-	8	4102	c.3691C>G	c.(3691-3693)Cct>Gct	p.P1231A	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1231	Cadherin 12.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTTCCCGGAGGCACGCGGTCT	0.552													18	150					0	0	1	0	0	C	6652623	G	C	6652623	3	2	198	1	0	0	0	0	1	0	0	0	4310	1203	42	4	6261	4	DCHS1	11	6652623	Missense_Mutation	SNP	G	TCGA-HC-8261-01A-11D-2260-08		6652623	128353893	16	9252											
OR4D6	219983	broad.mit.edu	37	chr11	59225028	59225028	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttgctttggagcttttcAtgatctctaacaacggactg	8	15	8	10	1	2	1	1	1	1	0	3	3	2	3	1	2	4	2	1	2	2	5			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr11:59225028A>G	ENST00000300127.2	+	1	618	c.595A>G	c.(595-597)Atg>Gtg	p.M199V		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						GGAGCTTTTCATGATCTCTAA	0.537													8	116					0	0	1	0	0	G	59225028	A	G	59225028	3	3	198	1	0	0	0	0	1	0	0	0	11106	217	8	3	597	3	OR4D6	11	59225028	Missense_Mutation	SNP	A	TCGA-HC-8261-01A-11D-2260-08	52572405	59225028	75781488	17	9253											
DAGLA	747	broad.mit.edu	37	chr11	61487640	61487640	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccagccatgcccgggatcGtggtgttccggcggcgctgg	4	7	16	14	5	0	0	0	0	0	0	2	1	1	1	4	5	2	2	4	5	0	1			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr11:61487640G>A	ENST00000257215.5	+	2	129	c.13G>A	c.(13-15)Gtg>Atg	p.V5M		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	5					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GCCCGGGATCGTGGTGTTCCG	0.622													3	84					0	0	1	0	0	A	61487640	G	A	61487640	3	1	198	1	0	0	0	0	1	0	0	0	4250	1145	40	1	15	1	DAGLA	11	61487640	Missense_Mutation	SNP	G	TCGA-HC-8261-01A-11D-2260-08	2262612	61487640	73518876	18	9254											
SLC39A5	283375	broad.mit.edu	37	chr12	56628745	56628745	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcatcggcgctccggccccTgcacccccaggggatctact	5	7	11	18	3	1	0	0	0	1	0	3	1	2	1	5	4	3	3	5	4	1	1			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr12:56628745T>A	ENST00000266980.4	+	4	902	c.609T>A	c.(607-609)ccT>ccA	p.P203P	SLC39A5_ENST00000454355.2_Silent_p.P203P	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	203					zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTCCGGCCCCTGCACCCCCAG	0.627													46	102					0	0	1	0	0	A	56628745	T	A	56628745	2	1	198	1	0	0	0	0	0	0	0	1	14676	1567	55	5		5	SLC39A5	12	56628745	Silent	SNP	T	TCGA-HC-8261-01A-11D-2260-08		56628745	77223150	19	9255											
HNF1A	6927	broad.mit.edu	37	chr12	121434123	121434123	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtaccctcaagcagcggCggtcccttagtgacagtgtc	9	8	12	12	2	1	1	1	1	0	0	3	2	2	1	2	2	3	2	2	2	4	2			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr12:121434123C>T	ENST00000257555.6	+	5	1240	c.1014C>T	c.(1012-1014)ggC>ggT	p.G338G	HNF1A_ENST00000544413.1_Silent_p.G338G|HNF1A_ENST00000543427.1_Silent_p.G221G|HNF1A_ENST00000541395.1_Silent_p.G338G|HNF1A_ENST00000402929.1_Silent_p.G338G|HNF1A_ENST00000400024.2_Silent_p.G338G|HNF1A_ENST00000538626.1_Intron			P20823	HNF1A_HUMAN	HNF1 homeobox A	338					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CAAGCAGCGGCGGTCCCTTAG	0.622									Hepatic Adenoma, Familial Clustering of				18	171					0	0	1	0	0	T	121434123	C	T	121434123	2	4	198	1	0	0	0	0	0	0	0	1	7292	755	27	1		1	HNF1A	12	121434123	Silent	SNP	C	TCGA-HC-8261-01A-11D-2260-08	64805378	121434123	12417772	20	9256											
CHD8	57680	broad.mit.edu	37	chr14	21860705	21860705	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactccttttcatccatgccTcggcgaagtttggtgaactg	8	13	9	11	2	1	1	1	1	0	0	4	2	3	1	3	2	3	1	3	2	3	3			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr14:21860705T>A	ENST00000399982.2	-	33	6796	c.6732A>T	c.(6730-6732)cgA>cgT	p.R2244R	CHD8_ENST00000430710.3_Silent_p.R1965R|CHD8_ENST00000557364.1_Silent_p.R2244R	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2244					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CATCCATGCCTCGGCGAAGTT	0.517													13	194					0	0	1	0	0	A	21860705	T	A	21860705	2	1	198	1	0	0	0	0	0	0	0	1	3353	1538	54	5		5	CHD8	14	21860705	Silent	SNP	T	TCGA-HC-8261-01A-11D-2260-08		21860705	85488835	21	9257											
SRP54	6729	broad.mit.edu	37	chr14	35470176	35470176	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgaagagatggcatctggtCttaacaaaagaaaaatgatt	17	11	9	4	0	2	4	0	2	2	2	2	5	2	4	0	2	1	1	0	2	6	3			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr14:35470176C>G	ENST00000556994.1	+	5	602	c.205C>G	c.(205-207)Ctt>Gtt	p.L69V	SRP54_ENST00000546080.1_Missense_Mutation_p.L20V|SRP54_ENST00000555535.1_3'UTR|SRP54_ENST00000555557.1_Missense_Mutation_p.L5V|SRP54_ENST00000216774.6_Missense_Mutation_p.L69V			P61011	SRP54_HUMAN	signal recognition particle 54kDa	69	G-domain.				GTP catabolic process|response to drug|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition|SRP-dependent cotranslational protein targeting to membrane, translocation	cytosol|nuclear speck|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|drug binding|endoplasmic reticulum signal peptide binding|GDP binding|GTP binding|nucleoside-triphosphatase activity|ribonucleoprotein binding	p.L69V(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)		GGCATCTGGTCTTAACAAAAG	0.353													9	30					0	0	1	0	0	G	35470176	C	G	35470176	3	3	198	1	0	0	0	0	1	0	0	0	15211	913	32	4	215	4	SRP54	14	35470176	Missense_Mutation	SNP	C	TCGA-HC-8261-01A-11D-2260-08	13609471	35470176	71879364	22	9258											
SIPA1L1	26037	broad.mit.edu	37	chr14	72176033	72176033	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagtggtacgatggggaccGcacagaatccgaactcaaca	14	5	12	10	3	1	1	1	0	0	1	2	5	2	2	2	3	3	2	2	3	5	1			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr14:72176033G>A	ENST00000555818.1	+	15	4271	c.3923G>A	c.(3922-3924)cGc>cAc	p.R1308H	SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.R1287H|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.R762H|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.R1287H	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1308	Ser-rich.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GATGGGGACCGCACAGAATCC	0.537													3	117					0	0	1	0	0	A	72176033	G	A	72176033	3	1	198	1	0	0	0	0	1	0	0	0	14384	1087	38	1	3977	1	SIPA1L1	14	72176033	Missense_Mutation	SNP	G	TCGA-HC-8261-01A-11D-2260-08	36705857	72176033	35173507	23	9259											
TDP1	55775	broad.mit.edu	37	chr14	90442141	90442141	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctaggcaaagttggatattgCgtttggaacacaccacacgt	12	10	10	9	2	0	0	0	0	0	0	0	2	0	2	1	3	2	3	1	3	4	5			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr14:90442141C>T	ENST00000335725.4	+	7	1023	c.773C>T	c.(772-774)gCg>gTg	p.A258V	TDP1_ENST00000393452.3_Missense_Mutation_p.A258V|TDP1_ENST00000357382.3_Intron|TDP1_ENST00000555565.1_3'UTR|TDP1_ENST00000393454.2_Missense_Mutation_p.A258V|TDP1_ENST00000555880.1_Missense_Mutation_p.A258V	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	258					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		TTGGATATTGCGTTTGGAACA	0.373								Repair of DNA-protein crosslinks					35	72					0	0	1	0	0	T	90442141	C	T	90442141	3	4	198	1	0	0	0	0	1	0	0	0	15787	768	27	1	791	1	TDP1	14	90442141	Missense_Mutation	SNP	C	TCGA-HC-8261-01A-11D-2260-08	18266108	90442141	16907399	24	9260											
CHGA	1113	broad.mit.edu	37	chr14	93399080	93399080	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctgggccgcagctgcgaCgaggctggaggccatcctcc	5	5	15	16	3	0	0	0	0	0	0	2	3	2	1	5	4	2	3	5	4	0	0			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr14:93399080C>T	ENST00000216492.5	+	7	1454	c.1174C>T	c.(1174-1176)Cga>Tga	p.R392*	CHGA_ENST00000334654.4_Nonsense_Mutation_p.R241*	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	392					regulation of blood pressure	extracellular region|stored secretory granule				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		GCAGCTGCGACGAGGCTGGAG	0.701													6	10					0	0	1	0	0	T	93399080	C	T	93399080	4	4	198	1	0	0	0	0	0	1	0	0	3360	528	19	1	1200	1	CHGA	14	93399080	Nonsense_Mutation	SNP	C	TCGA-HC-8261-01A-11D-2260-08	2956939	93399080	13950460	25	9261											
JAG2	3714	broad.mit.edu	37	chr14	105618060	105618060	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgttggcacacgggttggaGgtgcaggcgtgctcagctgt	5	9	17	10	3	1	0	1	0	0	0	1	1	1	1	1	5	3	6	1	5	0	2			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr14:105618060G>A	ENST00000331782.3	-	8	1459	c.1056C>T	c.(1054-1056)acC>acT	p.T352T	JAG2_ENST00000347004.2_Silent_p.T352T	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	352	EGF-like 4.				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		ACGGGTTGGAGGTGCAGGCGT	0.682													3	34					0	0	1	0	0	A	105618060	G	A	105618060	2	1	198	1	0	0	0	0	0	0	0	1	7979	987	35	2		2	JAG2	14	105618060	Silent	SNP	G	TCGA-HC-8261-01A-11D-2260-08	12218980	105618060	1731480	26	9262											
USP8	9101	broad.mit.edu	37	chr15	50790907	50790907	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagaacaatttgaagaaataTaatttgttttctgtttcagt	15	17	6	3	0	2	3	1	1	1	2	2	3	2	3	0	0	1	2	0	0	7	7			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr15:50790907T>C	ENST00000433963.1	+	20	3653	c.3153T>C	c.(3151-3153)taT>taC	p.Y1051Y	RP11-562A8.4_ENST00000560380.1_RNA|USP8_ENST00000307179.4_Silent_p.Y1051Y|USP8_ENST00000396444.3_Silent_p.Y1051Y|USP8_ENST00000425032.3_Silent_p.Y945Y	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	1051					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		TGAAGAAATATAATTTGTTTT	0.328													15	41					0	0	1	0	0	C	50790907	T	C	50790907	2	2	198	1	0	0	0	0	0	0	0	1	17149	1413	49	3		3	USP8	15	50790907	Silent	SNP	T	TCGA-HC-8261-01A-11D-2260-08		50790907	51740485	27	9263											
MSLNL	401827	broad.mit.edu	37	chr16	830799	830799	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taggtgacggtgtgcacgggTaggtgacagctgtgtgcacg	7	9	18	7	3	0	2	0	2	0	0	0	2	0	2	0	4	3	4	0	4	2	2			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr16:830799T>G	ENST00000293892.3	-	3	201	c.202A>C	c.(202-204)Acc>Ccc	p.T68P	MSLNL_ENST00000442466.1_Intron			Q96KJ4	MSLNL_HUMAN	mesothelin-like	0					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						TGTGCACGGGTAGGTGACAGC	0.592													6	173					0	0	1	0	0	G	830799	T	G	830799	3	3	198	1	0	0	0	0	1	0	0	0	9930	1638	57	5	3015	5	MSLNL	16	830799	Missense_Mutation	SNP	T	TCGA-HC-8261-01A-11D-2260-08		830799	89523954	28	9264											
EEF2K	29904	broad.mit.edu	37	chr16	22260091	22260091	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggtacaacgccgtcacCggggaatggctggatgatga	10	7	15	9	3	1	2	1	2	0	0	1	4	1	4	2	5	3	3	2	5	3	1			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr16:22260091C>T	ENST00000263026.5	+	4	837	c.363C>T	c.(361-363)acC>acT	p.T121T		NM_013302.3	NP_037434.1	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	121	Alpha-type protein kinase.				insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		ACGCCGTCACCGGGGAATGGC	0.572													10	89					0	0	1	0	0	T	22260091	C	T	22260091	2	4	198	1	0	0	0	0	0	0	0	1	4956	639	23	1		1	EEF2K	16	22260091	Silent	SNP	C	TCGA-HC-8261-01A-11D-2260-08	21429292	22260091	68094662	29	9265											
CHD9	80205	broad.mit.edu	37	chr16	53243397	53243397	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tatttttgtttctgtagcctCcatcttccaagaagagcgat	9	16	7	9	1	2	2	0	0	2	2	4	3	4	2	3	0	2	2	3	0	4	6			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr16:53243397C>A	ENST00000566029.1	+	3	1665	c.1456C>A	c.(1456-1458)Cca>Aca	p.P486T	CHD9_ENST00000564845.1_Missense_Mutation_p.P486T|CHD9_ENST00000447540.1_Missense_Mutation_p.P486T|CHD9_ENST00000398510.3_Missense_Mutation_p.P486T			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	486					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TCTGTAGCCTCCATCTTCCAA	0.348													5	14					0.217242	0.217242	1	1	0	A	53243397	C	A	53243397	3	1	198	1	0	0	0	0	1	0	0	0	3354	855	30	4	1462	4	CHD9	16	53243397	Missense_Mutation	SNP	C	TCGA-HC-8261-01A-11D-2260-08	30983306	53243397	37111356	30	9266											
CDH3	1001	broad.mit.edu	37	chr16	68712160	68712160	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgaaaatggcaagggtcccTtcccccagagactgaatcag	12	7	10	12	0	1	3	1	2	0	1	3	4	3	3	3	2	0	1	3	2	4	1			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr16:68712160T>C	ENST00000264012.4	+	4	914	c.370T>C	c.(370-372)Ttc>Ctc	p.F124L	CDH3_ENST00000581171.1_Missense_Mutation_p.F69L|CDH3_ENST00000429102.2_Missense_Mutation_p.F124L	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	124	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		CAAGGGTCCCTTCCCCCAGAG	0.507													34	96					0	0	1	0	0	C	68712160	T	C	68712160	3	2	198	1	0	0	0	0	1	0	0	0	3133	1609	56	3	384	3	CDH3	16	68712160	Missense_Mutation	SNP	T	TCGA-HC-8261-01A-11D-2260-08	15468763	68712160	21642593	31	9267											
NCOR1	9611	broad.mit.edu	37	chr17	15965015	15965015	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctctagctgctgctgttcacTaactgctgctgacctgcttc	5	14	8	14	0	2	1	1	1	1	0	3	1	2	1	1	0	7	7	1	0	2	4			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr17:15965015T>C	ENST00000268712.3	-	37	5838	c.5581A>G	c.(5581-5583)Agt>Ggt	p.S1861G	NCOR1_ENST00000395857.3_Missense_Mutation_p.S445G|NCOR1_ENST00000395851.1_Intron	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1861	Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TGCTGTTCACTAACTGCTGCT	0.483													43	97					0	0	1	0	0	C	15965015	T	C	15965015	3	2	198	1	0	0	0	0	1	0	0	0	10282	1522	53	3	1781	3	NCOR1	17	15965015	Missense_Mutation	SNP	T	TCGA-HC-8261-01A-11D-2260-08		15965015	65230195	32	9268											
CDK12	51755	broad.mit.edu	37	chr17	37650913	37650913	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgaaggaaattgtcacagaTaaacaagatgcactggattt	17	10	9	5	0	1	3	1	1	0	2	1	5	1	5	0	2	2	1	0	2	5	3			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr17:37650913T>G	ENST00000447079.4	+	5	2418	c.2385T>G	c.(2383-2385)gaT>gaG	p.D795E	CDK12_ENST00000430627.2_Missense_Mutation_p.D795E	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	795	Protein kinase.				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						ttgtcacagataaacaagatg	0.378			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)			5	2					0	0	1	0	0	G	37650913	T	G	37650913	3	3	198	1	0	0	0	0	1	0	0	0	3150	1403	49	5	2403	5	CDK12	17	37650913	Missense_Mutation	SNP	T	TCGA-HC-8261-01A-11D-2260-08	21685898	37650913	43544297	33	9269											
DBF4B	80174	broad.mit.edu	37	chr17	42807322	42807322	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagttacatcgtgtccagccGcagagaagtaaaggcagaga	15	6	12	8	2	0	2	0	0	0	2	2	4	1	2	2	1	2	4	2	1	5	2	rs140298749	byFrequency	TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr17:42807322G>A	ENST00000315005.3	+	4	413	c.275G>A	c.(274-276)cGc>cAc	p.R92H	DBF4B_ENST00000526915.1_3'UTR|DBF4B_ENST00000398338.3_Missense_Mutation_p.R92H|DBF4B_ENST00000393547.2_Missense_Mutation_p.R92H	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 homolog B (S. cerevisiae)	92	BRCT.				cell cycle	nucleus	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				GTGTCCAGCCGCAGAGAAGTA	0.488													3	77					0	0	1	0	0	A	42807322	G	A	42807322	3	1	198	1	0	0	0	0	1	0	0	0	4273	1087	38	1	289	1	DBF4B	17	42807322	Missense_Mutation	SNP	G	TCGA-HC-8261-01A-11D-2260-08	5156409	42807322	38387888	34	9270											
SPOP	8405	broad.mit.edu	37	chr17	47696424	47696424	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctctacggatgaatttcttGaatccccagtctttgccttg	7	16	7	11	1	3	2	0	2	3	0	5	3	4	3	3	1	2	0	3	1	3	5			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr17:47696424G>C	ENST00000393331.3	-	7	869	c.399C>G	c.(397-399)ttC>ttG	p.F133L	SPOP_ENST00000504102.1_Missense_Mutation_p.F133L|SPOP_ENST00000503676.1_Missense_Mutation_p.F133L|SPOP_ENST00000393328.2_Missense_Mutation_p.F133L|SPOP_ENST00000347630.2_Missense_Mutation_p.F133L	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	133	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.F133L(7)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TGAATTTCTTGAATCCCCAGT	0.448										Prostate(2;0.17)			54	91					0	0	1	0	0	C	47696424	G	C	47696424	3	2	198	1	0	0	0	0	1	0	0	0	15140	1281	45	4	749	4	SPOP	17	47696424	Missense_Mutation	SNP	G	TCGA-HC-8261-01A-11D-2260-08	4889102	47696424	33498786	35	9271											
CANT1	124583	broad.mit.edu	37	chr17	76993313	76993313	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgacagggtcaggtagcccTttttcaggtaactgaaccag	10	10	11	10	0	2	2	2	2	0	0	2	2	2	2	2	3	3	2	2	3	3	4			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr17:76993313T>C	ENST00000302345.2	-	2	886	c.392A>G	c.(391-393)aAg>aGg	p.K131R	CANT1_ENST00000591773.1_Missense_Mutation_p.K131R|CANT1_ENST00000392446.5_Missense_Mutation_p.K131R	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	131					positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			CAGGTAGCCCTTTTTCAGGTA	0.577			T	ETV4	prostate								4	370					0	0	1	0	0	C	76993313	T	C	76993313	3	2	198	1	0	0	0	0	1	0	0	0	2635	1609	56	3	825	3	CANT1	17	76993313	Missense_Mutation	SNP	T	TCGA-HC-8261-01A-11D-2260-08	29296889	76993313	4201897	36	9272											
KLK7	5650	broad.mit.edu	37	chr19	51480876	51480876	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgggtcattgggttggccGcaagggaaagttccccagga	8	8	15	10	1	1	0	1	0	0	0	2	2	2	2	4	5	0	3	4	5	2	3	rs17855561		TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr19:51480876G>A	ENST00000391807.1	-	6	779	c.678C>T	c.(676-678)tgC>tgT	p.C226C	KLK7_ENST00000336317.4_Silent_p.C113C|KLK7_ENST00000597707.1_Silent_p.C154C|CTB-147C22.9_ENST00000594512.1_RNA|KLK7_ENST00000595820.1_Silent_p.C226C	NM_139277.2	NP_644806.1	P49862	KLK7_HUMAN	kallikrein-related peptidase 7	226	Peptidase S1.			C -> W (in Ref. 6; AAH32005).	epidermis development|proteolysis	extracellular region	serine-type endopeptidase activity	p.C226C(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)		TGGGTTGGCCGCAAGGGAAAG	0.517													3	58					0	0	1	0	0	A	51480876	G	A	51480876	2	1	198	1	0	0	0	0	0	0	0	1	8452	1079	38	1		1	KLK7	19	51480876	Silent	SNP	G	TCGA-HC-8261-01A-11D-2260-08		51480876	7648107	37	9273											
ZNF468	90333	broad.mit.edu	37	chr19	53344590	53344590	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggtttctctccagtatgaatCctcttatgtctttcaaggtg	7	17	8	9	0	4	1	1	1	3	0	7	1	6	1	2	2	0	2	2	2	4	4			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr19:53344590C>G	ENST00000595646.1	-	4	1077	c.957G>C	c.(955-957)agG>agC	p.R319S	ZNF468_ENST00000243639.4_3'UTR|ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000396409.4_Missense_Mutation_p.R266S|ZNF468_ENST00000390651.4_Missense_Mutation_p.R266S			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	319					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		CAGTATGAATCCTCTTATGTC	0.373													52	28					0	0	1	0	0	G	53344590	C	G	53344590	3	3	198	1	0	0	0	0	1	0	0	0	17985	854	30	4	615	4	ZNF468	19	53344590	Missense_Mutation	SNP	C	TCGA-HC-8261-01A-11D-2260-08	1863714	53344590	5784393	38	9274											
ZMYND8	23613	broad.mit.edu	37	chr20	45867855	45867855	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggagaatggctgcccaccGtcgtggatggtggagtttta	7	10	17	7	2	0	1	0	0	0	1	1	4	0	3	2	6	1	2	2	6	2	2			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr20:45867855G>A	ENST00000311275.7	-	15	2505	c.2252C>T	c.(2251-2253)aCg>aTg	p.T751M	ZMYND8_ENST00000540497.1_Missense_Mutation_p.T699M|ZMYND8_ENST00000360911.3_Missense_Mutation_p.T746M|ZMYND8_ENST00000262975.4_Missense_Mutation_p.T751M|ZMYND8_ENST00000461685.1_Missense_Mutation_p.T771M|ZMYND8_ENST00000471951.2_Missense_Mutation_p.T771M|ZMYND8_ENST00000352431.2_Missense_Mutation_p.T771M|ZMYND8_ENST00000372023.3_Missense_Mutation_p.T746M|ZMYND8_ENST00000396281.4_Missense_Mutation_p.T751M|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000536340.1_Missense_Mutation_p.T778M|ZMYND8_ENST00000446994.2_Missense_Mutation_p.T688M|ZMYND8_ENST00000458360.2_Intron|ZMYND8_ENST00000355972.4_Missense_Mutation_p.T751M			Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	751							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			GCTGCCCACCGTCGTGGATGG	0.572													5	170					0	0	1	0	0	A	45867855	G	A	45867855	3	1	198	1	0	0	0	0	1	0	0	0	17769	1145	40	1	1290	1	ZMYND8	20	45867855	Missense_Mutation	SNP	G	TCGA-HC-8261-01A-11D-2260-08		45867855	17157665	39	9275											
KRTAP10-1	386677	broad.mit.edu	37	chr21	45959524	45959524	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaggtgcagcaagctggAtggcagctagactgctggca	10	6	17	8	0	0	1	0	0	0	1	0	4	0	3	0	5	5	7	0	5	2	1			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chr21:45959524A>C	ENST00000400375.1	-	1	554	c.510T>G	c.(508-510)caT>caG	p.H170Q	TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	170	24 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						AGCAAGCTGGATGGCAGCTAG	0.622													6	289					0	0	1	0	0	C	45959524	A	C	45959524	3	2	198	1	0	0	0	0	1	0	0	0	8548	330	12	5	342	5	KRTAP10-1	21	45959524	Missense_Mutation	SNP	A	TCGA-HC-8261-01A-11D-2260-08		45959524	2170371	40	9276											
ARHGEF9	23229	broad.mit.edu	37	chrX	62857909	62857909	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atctgcctccctgtaggtatCattttttgaagggggttaac	8	15	10	8	0	2	1	1	1	1	0	3	1	3	1	2	3	2	3	2	3	4	6			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chrX:62857909C>T	ENST00000253401.6	-	10	2350	c.1550G>A	c.(1549-1551)tGa>tAa	p.*517*	ARHGEF9_ENST00000437457.2_Silent_p.*464*|ARHGEF9_ENST00000374878.1_Intron|ARHGEF9_ENST00000433323.2_Silent_p.*244*|ARHGEF9_ENST00000374872.1_Silent_p.*496*|ARHGEF9_ENST00000374870.4_Silent_p.*415*|ARHGEF9_ENST00000495564.1_5'UTR	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	0					apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						CTGTAGGTATCATTTTTTGAA	0.403													6	1					0	0	1	0	0	T	62857909	C	T	62857909	2	4	198	1	0	0	0	0	0	0	0	1	909	837	29	2		2	ARHGEF9	23	62857909	Silent	SNP	C	TCGA-HC-8261-01A-11D-2260-08		62857909	92412651	41	9277											
RGAG4	340526	broad.mit.edu	37	chrX	71351091	71351091	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgttaatcaaaagatcatcCgagatacagtcgggctccgc	13	8	9	11	4	2	2	2	0	0	2	5	3	4	2	2	1	1	2	2	1	4	2			TCGA-HC-8261-01A-11D-2260-08	TCGA-HC-8261-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	087237e9-564b-46b8-8f1d-8de3406314b1	e0965003-39bc-46d9-83a7-7df655bdbf56	g.chrX:71351091C>T	ENST00000545866.1	-	1	667	c.300G>A	c.(298-300)tcG>tcA	p.S100S	RGAG4_ENST00000479991.1_Silent_p.S100S|NHSL2_ENST00000540800.1_Intron			Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	100										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					AAAGATCATCCGAGATACAGT	0.657													9	5					0	0	1	0	0	T	71351091	C	T	71351091	2	4	198	1	0	0	0	0	0	0	0	1	13327	639	23	1		1	RGAG4	23	71351091	Silent	SNP	C	TCGA-HC-8261-01A-11D-2260-08	8493182	71351091	83919469	42	9278											
PRDM16	63976	broad.mit.edu	37	chr1	3342257	3342257	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctgtgcaaccgctgcttcGggcagcagaccaacctggac	9	6	11	15	2	0	1	0	0	0	1	1	2	0	2	4	2	5	5	4	2	2	1			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr1:3342257G>A	ENST00000378398.3	+	14	3134	c.3052G>A	c.(3052-3054)Ggg>Agg	p.G1018R	PRDM16_ENST00000514189.1_Missense_Mutation_p.G1018R|PRDM16_ENST00000511072.1_Missense_Mutation_p.G1019R|PRDM16_ENST00000442529.2_Missense_Mutation_p.G1017R|PRDM16_ENST00000441472.2_Missense_Mutation_p.G1017R|PRDM16_ENST00000378391.2_Missense_Mutation_p.G1018R|PRDM16_ENST00000270722.5_Missense_Mutation_p.G1018R|PRDM16_ENST00000512462.1_3'UTR			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	1018	Interaction with CTBP1 and CTBP2 (By similarity).|Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CCGCTGCTTCGGGCAGCAGAC	0.642			T	EVI1	"MDS, AML"								15	65					0	0	1	0	0	A	3342257	G	A	3342257	3	1	199	1	0	0	0	0	1	0	0	0	12509	1116	39	1	3102	1	PRDM16	1	3342257	Missense_Mutation	SNP	G	TCGA-HC-8262-01A-11D-2260-08		3342257	245908364	1	9279											
CASZ1	54897	broad.mit.edu	37	chr1	10709155	10709155	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatggccccgtccaaggTgctgaagagcgcgccgcatt	7	8	13	13	4	0	3	0	2	0	1	1	3	1	3	4	2	2	2	4	2	2	2			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr1:10709155T>G	ENST00000377022.3	-	15	3447	c.3130A>C	c.(3130-3132)Acc>Ccc	p.T1044P	RP4-734G22.3_ENST00000606802.1_RNA|CASZ1_ENST00000344008.5_Missense_Mutation_p.T1044P	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1044					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CCGTCCAAGGTGCTGAAGAGC	0.622													4	29					0	0	1	0	0	G	10709155	T	G	10709155	3	3	199	1	0	0	0	0	1	0	0	0	2703	1696	59	5	2181	5	CASZ1	1	10709155	Missense_Mutation	SNP	T	TCGA-HC-8262-01A-11D-2260-08	7366898	10709155	238541466	2	9280											
PDE4DIP	9659	broad.mit.edu	37	chr1	144930736	144930736	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatctgtcatgctagggcCaggcttggctccaggtaggc	6	10	13	12	0	2	0	1	0	1	0	4	0	4	0	3	5	1	4	3	5	2	3			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr1:144930736C>T	ENST00000529945.1	-	1	1412	c.973G>A	c.(973-975)Ggc>Agc	p.G325S	PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.G325S			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ATGCTAGGGCCAGGCTTGGCT	0.498			T	PDGFRB	MPD								7	103					0	0	1	0	0	T	144930736	C	T	144930736	3	4	199	1	0	0	0	0	1	0	0	0	11690	594	21	2	6726	2	PDE4DIP	1	144930736	Missense_Mutation	SNP	C	TCGA-HC-8262-01A-11D-2260-08	134221581	144930736	104319885	3	9281											
KIRREL	55243	broad.mit.edu	37	chr1	158063224	158063224	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtattcttcctctaccggCgccgcaaaggcagtgagtat	8	11	11	11	3	2	1	0	1	2	0	3	1	3	1	3	3	1	4	3	3	4	5			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr1:158063224C>T	ENST00000368172.1	+	8	1021	c.1009C>T	c.(1009-1011)Cgc>Tgc	p.R337C	KIRREL_ENST00000360089.4_Missense_Mutation_p.R359C|KIRREL_ENST00000359209.6_Missense_Mutation_p.R523C|KIRREL_ENST00000368173.3_Missense_Mutation_p.R539C|KIRREL_ENST00000392272.2_Missense_Mutation_p.R420C|KIRREL_ENST00000416935.2_Missense_Mutation_p.R423C			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	523	Ig-like C2-type 4.					integral to membrane		p.R359S(1)|p.R539S(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					CCTCTACCGGCGCCGCAAAGG	0.602													20	51					0	0	1	0	0	T	158063224	C	T	158063224	3	4	199	1	0	0	0	0	1	0	0	0	8367	768	27	1	1613	1	KIRREL	1	158063224	Missense_Mutation	SNP	C	TCGA-HC-8262-01A-11D-2260-08	13132488	158063224	91187397	4	9282											
OR10K2	391107	broad.mit.edu	37	chr1	158390650	158390650	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccacagtctcattgacccGctccatggagcatacatcat	11	9	6	15	1	2	1	2	1	1	0	4	2	3	2	3	1	2	2	3	1	1	2			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr1:158390650G>A	ENST00000314902.2	-	1	6	c.7C>T	c.(7-9)Cgg>Tgg	p.R3W		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					TCATTGACCCGCTCCATGGAG	0.478													3	34					0	0	1	0	0	A	158390650	G	A	158390650	3	1	199	1	0	0	0	0	1	0	0	0	10962	1086	38	1	933	1	OR10K2	1	158390650	Missense_Mutation	SNP	G	TCGA-HC-8262-01A-11D-2260-08	327426	158390650	90859971	5	9283											
ITLN1	55600	broad.mit.edu	37	chr1	160851965	160851965	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggtctggtagataacacCattctcagtgcggagaaaat	14	9	11	7	1	2	2	1	0	2	2	3	4	2	2	1	3	2	1	1	3	5	3			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr1:160851965C>T	ENST00000326245.3	-	4	302	c.187G>A	c.(187-189)Ggt>Agt	p.G63S		NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	63	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TAGATAACACCATTCTCAGTG	0.557													17	40					0	0	1	0	0	T	160851965	C	T	160851965	3	4	199	1	0	0	0	0	1	0	0	0	7954	594	21	2	774	2	ITLN1	1	160851965	Missense_Mutation	SNP	C	TCGA-HC-8262-01A-11D-2260-08	2461315	160851965	88398656	6	9284											
MDM4	4194	broad.mit.edu	37	chr1	204513776	204513776	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagctgctgatactgaacaAacaagtgaagaagtagggaa	18	6	12	5	0	0	4	0	3	0	1	0	6	0	5	0	1	5	3	0	1	9	2			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr1:204513776A>C	ENST00000367182.3	+	9	948	c.786A>C	c.(784-786)caA>caC	p.Q262H	MDM4_ENST00000367183.3_Intron|MDM4_ENST00000507825.2_Intron|MDM4_ENST00000463049.1_3'UTR|MDM4_ENST00000454264.2_Intron|MDM4_ENST00000391947.2_3'UTR	NM_001204171.1|NM_001278516.1|NM_001278517.1|NM_001278518.1|NM_001278519.1|NM_002393.4	NP_001191100.1|NP_001265445.1|NP_001265446.1|NP_001265447.1|NP_001265448.1|NP_002384.2	O15151	MDM4_HUMAN	Mdm4 p53 binding protein homolog (mouse)	262	Asp/Glu-rich (acidic).|Region II.				apoptosis|cell proliferation|cellular response to hypoxia|G0 to G1 transition|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of protein catabolic process|negative regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization	nucleus	enzyme binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143)			ATACTGAACAAACAAGTGAAG	0.363			A		"GBM, bladder, retinoblastoma"								15	31					0	0	1	0	0	C	204513776	A	C	204513776	3	2	199	1	0	0	0	0	1	0	0	0	9464	11	1	5	816	5	MDM4	1	204513776	Missense_Mutation	SNP	A	TCGA-HC-8262-01A-11D-2260-08	43661811	204513776	44736845	7	9285											
USH2A	7399	broad.mit.edu	37	chr1	215963438	215963438	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgaaatcttgtcagagcaaAcatatttcaaaggattatat	16	14	6	5	0	3	2	2	1	1	1	3	3	3	3	0	1	2	1	0	1	6	6			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr1:215963438A>T	ENST00000366943.2	-	51	10531	c.10145T>A	c.(10144-10146)gTt>gAt	p.V3382D	USH2A_ENST00000307340.3_Missense_Mutation_p.V3382D			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3382					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTCAGAGCAAACATATTTCAA	0.378										HNSCC(13;0.011)			13	47					0	0	1	0	0	T	215963438	A	T	215963438	3	4	199	1	0	0	0	0	1	0	0	0	17096	43	2	5	5551	5	USH2A	1	215963438	Missense_Mutation	SNP	A	TCGA-HC-8262-01A-11D-2260-08	11449662	215963438	33287183	8	9286											
RNF144A	9781	broad.mit.edu	37	chr2	7160686	7160686	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctccaggacgtggggctgcaGaccccccagccagtgcagtg	7	5	14	15	1	0	1	0	0	0	1	1	2	1	2	5	3	3	3	5	3	0	0			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr2:7160686G>A	ENST00000320892.6	+	6	826	c.384G>A	c.(382-384)caG>caA	p.Q128Q	RNF144A_ENST00000467276.1_3'UTR	NM_014746.3	NP_055561.2	P50876	R144A_HUMAN	ring finger protein 144A	128						Golgi apparatus|integral to membrane	ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		TGGGGCTGCAGACCCCCCAGC	0.627													14	70					0	0	1	0	0	A	7160686	G	A	7160686	2	1	199	1	0	0	0	0	0	0	0	1	13497	933	33	2		2	RNF144A	2	7160686	Silent	SNP	G	TCGA-HC-8262-01A-11D-2260-08		7160686	236038687	9	9287											
GREB1	9687	broad.mit.edu	37	chr2	11750979	11750979	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccccgaagcagtgcccctgCggccacgggctcatggtcct	5	7	12	17	3	1	0	1	0	0	0	3	1	3	0	6	3	3	2	6	3	1	0			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr2:11750979C>T	ENST00000381486.2	+	18	3132	c.2832C>T	c.(2830-2832)tgC>tgT	p.C944C	GREB1_ENST00000234142.5_Silent_p.C944C	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	944						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		AGTGCCCCTGCGGCCACGGGC	0.687													3	55					0	0	1	0	0	T	11750979	C	T	11750979	2	4	199	1	0	0	0	0	0	0	0	1	6801	776	27	1		1	GREB1	2	11750979	Silent	SNP	C	TCGA-HC-8262-01A-11D-2260-08	4590293	11750979	231448394	10	9288											
ACTR3	10096	broad.mit.edu	37	chr2	114714958	114714958	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagttctaccaagtatgcCacaccaaaaaggattatgaa	16	9	7	9	0	1	2	0	2	1	0	1	3	1	3	3	1	2	2	3	1	7	4			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr2:114714958C>G	ENST00000263238.2	+	12	1503	c.1183C>G	c.(1183-1185)Cac>Gac	p.H395D	ACTR3_ENST00000536059.1_Missense_Mutation_p.H333D|ACTR3_ENST00000535589.2_Missense_Mutation_p.H344D	NM_001277140.1|NM_005721.3	NP_001264069.1|NP_005712.1	P61158	ARP3_HUMAN	ARP3 actin-related protein 3 homolog (yeast)	395					cellular component movement|cilium morphogenesis	Arp2/3 protein complex	actin binding|ATP binding			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(2)	15						CCAAGTATGCCACACCAAAAA	0.338													6	47					0	0	1	0	0	G	114714958	C	G	114714958	3	3	199	1	0	0	0	0	1	0	0	0	212	594	21	4	1229	4	ACTR3	2	114714958	Missense_Mutation	SNP	C	TCGA-HC-8262-01A-11D-2260-08	102963979	114714958	128484415	11	9289											
ERCC3	2071	broad.mit.edu	37	chr2	128050246	128050246	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgagcttcctgaggtactcGgtgatgtcactggtttgcag	6	13	13	9	1	1	3	1	3	0	0	3	3	2	3	1	3	3	4	1	3	1	3			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr2:128050246G>A	ENST00000493187.2	-	3	682	c.219C>T	c.(217-219)acC>acT	p.T73T	ERCC3_ENST00000285398.2_Silent_p.T137T			P19447	ERCC3_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 3	137					cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TGAGGTACTCGGTGATGTCAC	0.517			"Mis, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				9	42					0	0	1	0	0	A	128050246	G	A	128050246	2	1	199	1	0	0	0	0	0	0	0	1	5242	1103	39	1		1	ERCC3	2	128050246	Silent	SNP	G	TCGA-HC-8262-01A-11D-2260-08	13335288	128050246	115149127	12	9290											
ANKRD28	23243	broad.mit.edu	37	chr3	15721039	15721039	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttttctggaaaacttcctgTtctaaaagcagttctacaca	12	14	6	9	0	3	0	0	0	3	0	4	1	4	1	1	1	3	4	1	1	5	7			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr3:15721039T>G	ENST00000399451.2	-	22	2698	c.2331A>C	c.(2329-2331)gaA>gaC	p.E777D	ANKRD28_ENST00000497037.1_5'UTR|ANKRD28_ENST00000383777.1_Missense_Mutation_p.E810D	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	777						nucleoplasm	protein binding			breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						AAACTTCCTGTTCTAAAAGCA	0.368													2	13					0	0	1	0	0	G	15721039	T	G	15721039	3	3	199	1	0	0	0	0	1	0	0	0	652	1722	60	5	858	5	ANKRD28	3	15721039	Missense_Mutation	SNP	T	TCGA-HC-8262-01A-11D-2260-08		15721039	182301391	13	9291											
CTNNB1	1499	broad.mit.edu	37	chr3	41266097	41266097	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcagcaacagtcttacctgGactctggaatccattctggt	9	11	10	11	0	3	0	0	0	3	0	4	2	4	2	2	4	3	2	2	4	3	2	rs28931588		TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr3:41266097G>T	ENST00000349496.5	+	3	374	c.94G>T	c.(94-96)Gac>Tac	p.D32Y	CTNNB1_ENST00000396185.3_Missense_Mutation_p.D32Y|CTNNB1_ENST00000405570.1_Missense_Mutation_p.D32Y|CTNNB1_ENST00000396183.3_Missense_Mutation_p.D32Y|CTNNB1_ENST00000453024.1_Missense_Mutation_p.D25Y	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	32			D -> A (in hepatocellular carcinoma).|D -> G (in PTR and hepatocellular carcinoma).|D -> Y (in PTR, hepatoblastoma and hepatocellular carcinoma; dbSNP:rs28931588).|Missing (in hepatocellular carcinoma).		adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.D32Y(128)|p.D32N(82)|p.A5_A80del(53)|p.D32H(40)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.WQQQSYLD25?(5)|p.W25_D32del(4)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.S23_S33del(2)|p.V22_S33del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.Y30_S33del(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.S29_H36del(1)|p.D32del(1)|p.M14_S45del(1)|p.Q28_D32>H(1)|p.Q28fs*20(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.Y30_A97del(1)|p.W25_S33del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.Y30_A80del(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.W25_I35del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.D32fs*9(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.A5_I35del(1)|p.D32_H36del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	GTCTTACCTGGACTCTGGAAT	0.478	D32N(KE39_STOMACH)	15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of				5	28					0.184627	0.187303	1	1	0	T	41266097	G	T	41266097	3	4	199	1	0	0	0	0	1	0	0	0	4040	1174	41	4	100	4	CTNNB1	3	41266097	Missense_Mutation	SNP	G	TCGA-HC-8262-01A-11D-2260-08	25545058	41266097	156756333	14	9292											
TMIE	259236	broad.mit.edu	37	chr3	46747349	46747349	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtggtgttctgggacatgCgcctgtggcacgtggtgggc	4	10	18	9	2	1	0	0	0	1	0	1	1	1	1	1	5	1	2	1	5	0	1			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr3:46747349C>T	ENST00000326431.3	+	2	318	c.163C>T	c.(163-165)Cgc>Tgc	p.R55C		NM_147196.2	NP_671729.2	Q8NEW7	TMIE_HUMAN	transmembrane inner ear	55						integral to membrane				endometrium(1)|lung(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000688)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		CTGGGACATGCGCCTGTGGCA	0.607											OREG0015540	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	91					0	0	1	0	0	T	46747349	C	T	46747349	3	4	199	1	0	0	0	0	1	0	0	0	16289	768	27	1	169	1	TMIE	3	46747349	Missense_Mutation	SNP	C	TCGA-HC-8262-01A-11D-2260-08	5481252	46747349	151275081	15	9293											
COL7A1	1294	broad.mit.edu	37	chr3	48628922	48628922	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgctgcgcacaatgatgcgGtactgggtggcaccagggac	8	7	16	10	2	0	1	0	1	0	0	0	2	0	2	1	4	4	4	1	4	2	1			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr3:48628922G>A	ENST00000328333.8	-	12	1718	c.1611C>T	c.(1609-1611)taC>taT	p.Y537Y	COL7A1_ENST00000454817.1_Silent_p.Y537Y	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	537	Fibronectin type-III 4.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CAATGATGCGGTACTGGGTGG	0.652													3	94					0	0	1	0	0	A	48628922	G	A	48628922	2	1	199	1	0	0	0	0	0	0	0	1	3727	1256	44	2		2	COL7A1	3	48628922	Silent	SNP	G	TCGA-HC-8262-01A-11D-2260-08	1881573	48628922	149393508	16	9294											
PARP14	54625	broad.mit.edu	37	chr3	122447397	122447397	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caagtttatttgtggcatttTatgactaccaagcataccca	12	14	6	9	0	0	1	0	1	0	0	0	1	0	1	2	1	3	3	2	1	6	7			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr3:122447397T>G	ENST00000474629.2	+	17	5625	c.5359T>G	c.(5359-5361)Tat>Gat	p.Y1787D		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1787	PARP catalytic.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		TGTGGCATTTTATGACTACCA	0.363													28	77					0	0	1	0	0	G	122447397	T	G	122447397	3	3	199	1	0	0	0	0	1	0	0	0	11505	1754	61	5	5425	5	PARP14	3	122447397	Missense_Mutation	SNP	T	TCGA-HC-8262-01A-11D-2260-08	73818475	122447397	75575033	17	9295											
ATP13A3	79572	broad.mit.edu	37	chr3	194169231	194169231	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagttctccagtgtagaaacGagtctgaataacagttgtcc	12	11	10	8	1	2	2	0	1	2	1	4	4	3	2	2	0	2	3	2	0	4	4			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr3:194169231G>A	ENST00000439040.1	-	12	1896	c.1105C>T	c.(1105-1107)Cgt>Tgt	p.R369C	ATP13A3_ENST00000256031.4_Missense_Mutation_p.R369C			Q9H7F0	AT133_HUMAN	ATPase type 13A3	369					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		GTGTAGAAACGAGTCTGAATA	0.348													12	86					0	0	1	0	0	A	194169231	G	A	194169231	3	1	199	1	0	0	0	0	1	0	0	0	1124	1058	37	1	2663	1	ATP13A3	3	194169231	Missense_Mutation	SNP	G	TCGA-HC-8262-01A-11D-2260-08	71721834	194169231	3853199	18	9296											
HGFAC	3083	broad.mit.edu	37	chr4	3443797	3443797	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggccccttcctcctcctcctCctgctgctgctgctgctgcc	0	12	8	21	0	0	0	0	0	0	0	5	0	5	0	8	1	6	5	8	1	0	1			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr4:3443797C>G	ENST00000382774.3	+	1	184	c.69C>G	c.(67-69)ctC>ctG	p.L23L	HGFAC_ENST00000511533.1_Silent_p.L23L	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	23					proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TCCTCCTCCTCCTGCTGCTGC	0.716													2	12					0	0	1	0	0	G	3443797	C	G	3443797	2	3	199	1	0	0	0	0	0	0	0	1	7127	842	30	4		4	HGFAC	4	3443797	Silent	SNP	C	TCGA-HC-8262-01A-11D-2260-08		3443797	187710479	19	9297											
PCDH18	54510	broad.mit.edu	37	chr4	138442613	138442613	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtatccccagtgtcctcaTcgtttggggagtcctttcca	5	14	10	12	1	1	0	1	0	0	0	6	1	5	1	5	3	0	2	5	3	1	3			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr4:138442613T>A	ENST00000344876.4	-	4	3364	c.2978A>T	c.(2977-2979)gAt>gTt	p.D993V	PCDH18_ENST00000510305.1_Missense_Mutation_p.D204V|PCDH18_ENST00000507846.1_Missense_Mutation_p.D772V|PCDH18_ENST00000412923.2_Missense_Mutation_p.D992V|PCDH18_ENST00000511115.1_Missense_Mutation_p.D173V	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	993	Interaction with DAB1 (By similarity).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					AGTGTCCTCATCGTTTGGGGA	0.512													17	48					0	0	1	0	0	A	138442613	T	A	138442613	3	1	199	1	0	0	0	0	1	0	0	0	11560	1435	50	5	433	5	PCDH18	4	138442613	Missense_Mutation	SNP	T	TCGA-HC-8262-01A-11D-2260-08	134998816	138442613	52711663	20	9298											
ANKH	56172	broad.mit.edu	37	chr5	14711384	14711384	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctgtcatggcagagtcttcCccctccgtggccgactcatt	5	12	9	15	2	4	1	2	0	2	1	6	2	6	1	4	2	0	1	4	2	0	2			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr5:14711384C>T	ENST00000284268.6	-	12	1731	c.1401G>A	c.(1399-1401)ggG>ggA	p.G467G	ANKH_ENST00000535119.1_Silent_p.G269G	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	467					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						CAGAGTCTTCCCCCTCCGTGG	0.542													44	133					0	0	1	0	0	T	14711384	C	T	14711384	2	4	199	1	0	0	0	0	0	0	0	1	623	610	22	2		2	ANKH	5	14711384	Silent	SNP	C	TCGA-HC-8262-01A-11D-2260-08		14711384	166203876	21	9299											
PLA2G7	7941	broad.mit.edu	37	chr6	46684800	46684800	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagtttggccaaagcttgcaGcagccatcagtacttgtatt	10	13	9	9	0	1	0	1	0	0	0	1	0	1	0	2	1	5	6	2	1	4	7			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr6:46684800G>A	ENST00000274793.7	-	3	339	c.143C>T	c.(142-144)gCt>gTt	p.A48V	PLA2G7_ENST00000541026.1_Intron|PLA2G7_ENST00000537365.1_Missense_Mutation_p.A48V|PLA2G7_ENST00000538237.1_Missense_Mutation_p.A3V	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	48					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			AAAGCTTGCAGCAGCCATCAG	0.368													3	92					0	0	1	0	0	A	46684800	G	A	46684800	3	1	199	1	0	0	0	0	1	0	0	0	12057	971	34	2	1222	2	PLA2G7	6	46684800	Missense_Mutation	SNP	G	TCGA-HC-8262-01A-11D-2260-08		46684800	124430267	22	9300											
BEND3	57673	broad.mit.edu	37	chr6	107390917	107390917	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgtagcagtcatcacgcgggGggtcgccttcactgcccgcg	5	7	14	15	6	3	0	3	0	0	0	4	0	3	0	2	3	2	2	2	3	1	2			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr6:107390917G>A	ENST00000429433.2	-	5	2127	c.1478C>T	c.(1477-1479)cCc>cTc	p.P493L	BEND3_ENST00000369042.1_Missense_Mutation_p.P493L	NM_001080450.2	NP_001073919.1	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	493										central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						ATCACGCGGGGGGTCGCCTTC	0.682													12	18					0	0	1	0	0	A	107390917	G	A	107390917	3	1	199	1	0	0	0	0	1	0	0	0	1397	1232	43	2	1012	2	BEND3	6	107390917	Missense_Mutation	SNP	G	TCGA-HC-8262-01A-11D-2260-08	60706117	107390917	63724150	23	9301											
PCLO	27445	broad.mit.edu	37	chr7	82579685	82579685	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tctctttttgggttgtttttCctctttcacaacaacatctg	6	20	5	10	0	4	0	1	0	3	0	6	0	5	0	1	1	2	2	1	1	2	6			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr7:82579685C>T	ENST00000423517.2	-	6	10556	c.10219G>A	c.(10219-10221)Gaa>Aaa	p.E3407K	PCLO_ENST00000437081.1_Missense_Mutation_p.E127K|PCLO_ENST00000333891.8_Missense_Mutation_p.E3407K	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3338					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						GGTTGTTTTTCCTCTTTCACA	0.418													9	47					0	0	1	0	0	T	82579685	C	T	82579685	3	4	199	1	0	0	0	0	1	0	0	0	11630	864	30	2	5306	2	PCLO	7	82579685	Missense_Mutation	SNP	C	TCGA-HC-8262-01A-11D-2260-08		82579685	76558978	24	9302											
MTUS1	57509	broad.mit.edu	37	chr8	17611561	17611561	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agttgtaacatgcacagcctGgctagtaatgagtttattaa	13	13	9	6	0	0	1	0	1	0	0	0	1	0	1	1	1	3	6	1	1	5	7			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr8:17611561G>A	ENST00000381869.3	-	2	2229	c.1756C>T	c.(1756-1758)Cag>Tag	p.Q586*	MTUS1_ENST00000262102.6_Nonsense_Mutation_p.Q586*|MTUS1_ENST00000519263.1_Nonsense_Mutation_p.Q586*|MTUS1_ENST00000381862.3_Nonsense_Mutation_p.Q586*	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	586						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		TGCACAGCCTGGCTAGTAATG	0.398													8	118					0	0	1	0	0	A	17611561	G	A	17611561	4	1	199	1	0	0	0	0	0	1	0	0	10013	1357	47	2	2431	2	MTUS1	8	17611561	Nonsense_Mutation	SNP	G	TCGA-HC-8262-01A-11D-2260-08		17611561	128752461	25	9303											
ZNF782	158431	broad.mit.edu	37	chr9	99581089	99581089	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttttcttaggcgtgactTctcactgaaggctttcccgc	6	15	9	11	2	2	2	1	2	2	0	4	2	3	2	1	2	0	2	1	2	2	5			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr9:99581089T>A	ENST00000481138.1	-	6	1877	c.1216A>T	c.(1216-1218)Aag>Tag	p.K406*	ZNF782_ENST00000535338.1_Nonsense_Mutation_p.K274*	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	406					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				AGGCGTGACTTCTCACTGAAG	0.443													4	81					0	0	1	0	0	A	99581089	T	A	99581089	4	1	199	1	0	0	0	0	0	1	0	0	18204	1792	62	5	887	5	ZNF782	9	99581089	Nonsense_Mutation	SNP	T	TCGA-HC-8262-01A-11D-2260-08		99581089	41632342	26	9304											
COL27A1	85301	broad.mit.edu	37	chr9	117071687	117071687	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagcaggccgtacgcttcCgggcctggaatggacagatt	9	7	13	12	3	0	1	0	0	0	1	1	3	1	3	4	4	2	3	4	4	3	3			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr9:117071687C>T	ENST00000356083.3	+	60	5756	c.5365C>T	c.(5365-5367)Cgg>Tgg	p.R1789W		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1789	Fibrillar collagen NC1.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CGTACGCTTCCGGGCCTGGAA	0.607													19	83					0	0	1	0	0	T	117071687	C	T	117071687	3	4	199	1	0	0	0	0	1	0	0	0	3708	643	23	1	5603	1	COL27A1	9	117071687	Missense_Mutation	SNP	C	TCGA-HC-8262-01A-11D-2260-08	17490598	117071687	24141744	27	9305											
STXBP1	6812	broad.mit.edu	37	chr9	130438178	130438178	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgccaatgtcagcacttaTgacaaaatccgcatcatcct	13	10	6	12	1	2	1	2	1	0	0	4	2	4	1	3	0	2	2	3	0	4	1			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr9:130438178T>C	ENST00000373302.3	+	14	1345	c.1206T>C	c.(1204-1206)taT>taC	p.Y402Y	STXBP1_ENST00000481942.1_3'UTR|STXBP1_ENST00000373299.1_Silent_p.Y402Y	NM_003165.3	NP_003156.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	402					axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						TCAGCACTTATGACAAAATCC	0.512													3	28					0	0	1	0	0	C	130438178	T	C	130438178	2	2	199	1	0	0	0	0	0	0	0	1	15408	1471	51	3		3	STXBP1	9	130438178	Silent	SNP	T	TCGA-HC-8262-01A-11D-2260-08	13366491	130438178	10775253	28	9306											
DDX31	64794	broad.mit.edu	37	chr9	135517391	135517391	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacacaggaggatacgtacCgtgcaaagaaggacgcctct	14	5	12	10	3	1	1	0	0	1	1	1	5	1	4	2	3	4	2	2	3	5	2			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr9:135517391C>A	ENST00000372159.3	-	14	1906	c.1755_splice	c.e14+1	p.T585_splice	DDX31_ENST00000372153.1_Splice_Site_p.T585_splice|DDX31_ENST00000310532.2_Splice_Site_p.T585_splice|DDX31_ENST00000438527.3_Splice_Site_p.T456_splice	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	585	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		GGATACGTACCGTGCAAAGAA	0.438													6	26					3.59834e-05	3.93568e-05	1	1	0	A	135517391	C	A	135517391	5	1	199	1	0	0	0	0	0	0	1	0	4379	666	23	4	835	4	DDX31	9	135517391	Splice_Site	SNP	C	TCGA-HC-8262-01A-11D-2260-08	5079213	135517391	5696040	29	9307											
ANAPC2	29882	broad.mit.edu	37	chr9	140070252	140070252	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccacgtccatggtcaccAggcccagggtgtgcttccaa	7	8	11	15	1	1	0	1	0	0	0	4	0	4	0	5	3	1	2	5	3	1	1			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr9:140070252A>G	ENST00000323927.2	-	11	1932	c.1928T>C	c.(1927-1929)cTg>cCg	p.L643P	ANAPC2_ENST00000487917.1_5'UTR	NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	643					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		CATGGTCACCAGGCCCAGGGT	0.662													2	11					0	0	1	0	0	G	140070252	A	G	140070252	3	3	199	1	0	0	0	0	1	0	0	0	599	188	7	3	552	3	ANAPC2	9	140070252	Missense_Mutation	SNP	A	TCGA-HC-8262-01A-11D-2260-08	4552861	140070252	1143179	30	9308											
MMRN2	79812	broad.mit.edu	37	chr10	88702336	88702336	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgctgagtggcgaagagtgcGttgtggaggccgtgaaggga	8	7	20	6	4	0	3	0	2	0	1	0	6	0	5	1	4	1	2	1	4	2	1			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr10:88702336G>A	ENST00000372027.4	-	6	2278	c.2205C>T	c.(2203-2205)aaC>aaT	p.N735N		NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	735						extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						CGAAGAGTGCGTTGTGGAGGC	0.657													3	33					0	0	1	0	0	A	88702336	G	A	88702336	2	1	199	1	0	0	0	0	0	0	0	1	9720	1136	40	1		1	MMRN2	10	88702336	Silent	SNP	G	TCGA-HC-8262-01A-11D-2260-08		88702336	46832411	31	9309											
ABLIM1	3983	broad.mit.edu	37	chr10	116361630	116361630	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaatgtttggtctggaccCgaagcacttcacccttgcaa	10	10	10	11	1	2	0	1	0	1	0	2	3	2	2	2	3	2	3	2	3	3	3	rs145417841	byFrequency	TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr10:116361630C>T	ENST00000369252.4	-	2	456	c.155G>A	c.(154-156)cGg>cAg	p.R52Q	ABLIM1_ENST00000277895.5_Missense_Mutation_p.R112Q|ABLIM1_ENST00000477638.1_5'UTR|ABLIM1_ENST00000533213.2_Missense_Mutation_p.R52Q	NM_001003407.1|NM_001003408.1	NP_001003407.1|NP_001003408.1	O14639	ABLM1_HUMAN	actin binding LIM protein 1	112					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		GGTCTGGACCCGAAGCACTTC	0.547													6	86					0	0	1	0	0	T	116361630	C	T	116361630	3	4	199	1	0	0	0	0	1	0	0	0	94	652	23	1	2173	1	ABLIM1	10	116361630	Missense_Mutation	SNP	C	TCGA-HC-8262-01A-11D-2260-08	27659294	116361630	19173117	32	9310											
DCHS1	8642	broad.mit.edu	37	chr11	6650985	6650985	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagaggacgctgtactcctgCtgctggaaagtaggcgcctc	9	8	13	11	2	0	1	0	0	0	1	2	3	1	3	2	3	3	5	2	3	4	2			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr11:6650985C>T	ENST00000299441.3	-	11	5364	c.4953G>A	c.(4951-4953)caG>caA	p.Q1651Q		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1651	Cadherin 16.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTACTCCTGCTGCTGGAAAG	0.657													18	20					0	0	1	0	0	T	6650985	C	T	6650985	2	4	199	1	0	0	0	0	0	0	0	1	4310	796	28	2		2	DCHS1	11	6650985	Silent	SNP	C	TCGA-HC-8262-01A-11D-2260-08		6650985	128355531	33	9311											
OR5M8	219484	broad.mit.edu	37	chr11	56258763	56258763	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgtaaatggccagaaacagCgtgaagaggagaatttgtaa	17	8	12	4	1	0	4	0	1	0	3	0	5	0	4	1	2	2	2	1	2	6	3			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr11:56258763C>T	ENST00000327216.2	-	1	108	c.84G>A	c.(82-84)acG>acA	p.T28T		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					CCAGAAACAGCGTGAAGAGGA	0.507													36	91					0	0	1	0	0	T	56258763	C	T	56258763	2	4	199	1	0	0	0	0	0	0	0	1	11223	755	27	1		1	OR5M8	11	56258763	Silent	SNP	C	TCGA-HC-8262-01A-11D-2260-08	49607778	56258763	78747753	34	9312											
KCTD14	65987	broad.mit.edu	37	chr11	77734212	77734212	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agcctcgcacttaccgttggCcgcctgggccggggggactg	4	7	16	14	4	0	0	0	0	0	0	1	1	0	1	5	5	2	2	5	5	1	2			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr11:77734212C>A	ENST00000353172.5	-	1	128	c.84G>T	c.(82-84)cgG>cgT	p.R28R	NDUFC2-KCTD14_ENST00000528251.1_Intron|KCTD14_ENST00000533144.1_Intron|NDUFC2-KCTD14_ENST00000530054.1_Intron|RP11-7I15.4_ENST00000526730.1_RNA	NM_001203260.1|NM_001203262.1|NM_023930.3	NP_001190189.1|NP_001190191.1|NP_076419.2	Q9BQ13	KCD14_HUMAN	potassium channel tetramerization domain containing 14	28						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	15	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1e-24)			TTACCGTTGGCCGCCTGGGCC	0.692													5	54					1.6384e-10	1.84981e-10	1	1	0	A	77734212	C	A	77734212	2	1	199	1	0	0	0	0	0	0	0	1	8145	726	26	4		4	KCTD14	11	77734212	Silent	SNP	C	TCGA-HC-8262-01A-11D-2260-08	21475449	77734212	57272304	35	9313											
MFAP5	8076	broad.mit.edu	37	chr12	8800751	8800751	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaagtcggaagtaattggagCgacggagtctcctagggggc	10	7	17	7	3	1	0	0	0	1	0	3	5	1	3	1	5	1	1	1	5	4	3			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr12:8800751C>T	ENST00000359478.2	-	10	645	c.458G>A	c.(457-459)cGc>cAc	p.R153H	MFAP5_ENST00000433590.2_Missense_Mutation_p.R128H|MFAP5_ENST00000543369.1_Missense_Mutation_p.R131H|MFAP5_ENST00000396549.2_Missense_Mutation_p.R143H|MFAP5_ENST00000535336.1_Missense_Mutation_p.R89H|MFAP5_ENST00000540087.1_Missense_Mutation_p.R143H	NM_003480.2	NP_003471.1	Q13361	MFAP5_HUMAN	microfibrillar associated protein 5	153						microfibril	extracellular matrix structural constituent	p.R153H(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(5)|skin(1)	13	Lung SC(5;0.184)					GTAATTGGAGCGACGGAGTCT	0.463													7	22					0	0	1	0	0	T	8800751	C	T	8800751	3	4	199	1	0	0	0	0	1	0	0	0	9568	768	27	1	67	1	MFAP5	12	8800751	Missense_Mutation	SNP	C	TCGA-HC-8262-01A-11D-2260-08		8800751	125051144	36	9314											
ABCC9	10060	broad.mit.edu	37	chr12	22012551	22012551	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttggtgttttgatacagcGctcgtgccacacagattctc	7	14	10	10	2	1	2	0	1	1	1	3	2	1	2	1	1	3	3	1	1	1	5			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr12:22012551G>A	ENST00000261200.4	-	20	2473	c.2474C>T	c.(2473-2475)gCg>gTg	p.A825V	RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Missense_Mutation_p.A789V|ABCC9_ENST00000261201.4_Missense_Mutation_p.A825V	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	825	ABC transporter 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TTGATACAGCGCTCGTGCCAC	0.403													3	80					0	0	1	0	0	A	22012551	G	A	22012551	3	1	199	1	0	0	0	0	1	0	0	0	59	1087	38	1	2393	1	ABCC9	12	22012551	Missense_Mutation	SNP	G	TCGA-HC-8262-01A-11D-2260-08	13211800	22012551	111839344	37	9315											
TRIM9	114088	broad.mit.edu	37	chr14	51489667	51489667	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacaggcttcaaactccacActgttctcctgtgtaacaga	12	10	7	12	0	2	2	1	0	1	2	4	2	3	2	2	1	2	3	2	1	2	3			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr14:51489667A>C	ENST00000298355.3	-	3	2048	c.927T>G	c.(925-927)agT>agG	p.S309R	TRIM9_ENST00000338969.5_Missense_Mutation_p.S309R|TRIM9_ENST00000360392.4_Missense_Mutation_p.S309R	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	309					proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					CAAACTCCACACTGTTCTCCT	0.552													11	42					0	0	1	0	0	C	51489667	A	C	51489667	3	2	199	1	0	0	0	0	1	0	0	0	16610	156	6	5	1287	5	TRIM9	14	51489667	Missense_Mutation	SNP	A	TCGA-HC-8262-01A-11D-2260-08		51489667	55859873	38	9316											
BNC1	646	broad.mit.edu	37	chr15	83932046	83932046	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaagtagtgttcatggcCaccatcctcgacctcccttg	7	12	9	13	1	1	1	1	1	0	0	4	2	3	1	5	1	0	2	5	1	2	3			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr15:83932046C>G	ENST00000345382.2	-	4	2042	c.1957G>C	c.(1957-1959)Ggc>Cgc	p.G653R	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.G646R	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	653					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						TGTTCATGGCCACCATCCTCG	0.557													17	54					0	0	1	0	0	G	83932046	C	G	83932046	3	3	199	1	0	0	0	0	1	0	0	0	1473	594	21	4	1035	4	BNC1	15	83932046	Missense_Mutation	SNP	C	TCGA-HC-8262-01A-11D-2260-08		83932046	18599346	39	9317											
COG7	91949	broad.mit.edu	37	chr16	23444927	23444927	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggcatcatagagtccggtaAgctgccggtccagggatagg	10	7	15	9	2	1	1	1	0	0	1	3	2	3	2	3	5	2	3	3	5	3	3			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr16:23444927A>G	ENST00000307149.5	-	6	934	c.749T>C	c.(748-750)cTt>cCt	p.L250P		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	250					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		GAGTCCGGTAAGCTGCCGGTC	0.507													9	43					0	0	1	0	0	G	23444927	A	G	23444927	3	3	199	1	0	0	0	0	1	0	0	0	3686	72	3	3	1611	3	COG7	16	23444927	Missense_Mutation	SNP	A	TCGA-HC-8262-01A-11D-2260-08		23444927	66909826	40	9318											
ZZEF1	23140	broad.mit.edu	37	chr17	3979978	3979978	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagagcttcttcaggagttCtgtgaggacgctgaactctc	9	11	11	10	1	4	3	1	2	3	1	5	5	4	5	0	2	2	3	0	2	1	3			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr17:3979978C>A	ENST00000381638.2	-	21	3311	c.3187G>T	c.(3187-3189)Gaa>Taa	p.E1063*	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1063							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TTCAGGAGTTCTGTGAGGACG	0.532													9	16					0.000274275	0.000295373	1	1	0	A	3979978	C	A	3979978	4	1	199	1	0	0	0	0	0	1	0	0	18295	922	32	4	5838	4	ZZEF1	17	3979978	Nonsense_Mutation	SNP	C	TCGA-HC-8262-01A-11D-2260-08		3979978	77215232	41	9319											
PHF23	79142	broad.mit.edu	37	chr17	7140001	7140001	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctggatggttcgaagatctGagggggccgagtcccagcca	8	8	15	10	2	2	2	0	1	2	1	4	5	3	3	3	4	1	1	3	4	1	1			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr17:7140001G>A	ENST00000320316.3	-	4	471	c.245C>T	c.(244-246)tCa>tTa	p.S82L	PHF23_ENST00000576955.1_5'UTR|PHF23_ENST00000571362.1_Intron|PHF23_ENST00000570753.1_5'UTR|PHF23_ENST00000454255.2_Missense_Mutation_p.S78L	NM_024297.2	NP_077273.2	Q9BUL5	PHF23_HUMAN	PHD finger protein 23	82							zinc ion binding			breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						TCGAAGATCTGAGGGGGCCGA	0.572													24	98					0	0	1	0	0	A	7140001	G	A	7140001	3	1	199	1	0	0	0	0	1	0	0	0	11883	1294	45	2	974	2	PHF23	17	7140001	Missense_Mutation	SNP	G	TCGA-HC-8262-01A-11D-2260-08	3160023	7140001	74055209	42	9320											
TUBB6	84617	broad.mit.edu	37	chr18	12325161	12325161	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acgtggtgcggaaggagtgcGagcactgcgactgcctgcag	8	6	17	10	4	0	0	0	0	0	0	0	4	0	2	1	3	6	2	1	3	1	0			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr18:12325161G>A	ENST00000317702.5	+	4	607	c.373G>A	c.(373-375)Gag>Aag	p.E125K	TUBB6_ENST00000591909.1_Intron|TUBB6_ENST00000591208.1_Intron|TUBB6_ENST00000590967.1_Intron|TUBB6_ENST00000586653.1_3'UTR			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	125					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		GAAGGAGTGCGAGCACTGCGA	0.672													24	71					0	0	1	0	0	A	12325161	G	A	12325161	3	1	199	1	0	0	0	0	1	0	0	0	16822	1059	37	1	387	1	TUBB6	18	12325161	Missense_Mutation	SNP	G	TCGA-HC-8262-01A-11D-2260-08		12325161	65752087	43	9321											
ZNF236	7776	broad.mit.edu	37	chr18	74592173	74592173	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agcgacgtcatccagcagctCctggagctctcagagccggc	8	6	12	15	3	2	1	2	0	1	1	5	3	4	2	3	2	5	3	3	2	0	0			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr18:74592173C>A	ENST00000253159.8	+	8	1281	c.1083C>A	c.(1081-1083)ctC>ctA	p.L361L	ZNF236_ENST00000320610.9_Silent_p.L363L	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	361					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		TCCAGCAGCTCCTGGAGCTCT	0.627													8	26					0.00307968	0.00326633	1	1	0	A	74592173	C	A	74592173	2	1	199	1	0	0	0	0	0	0	0	1	17847	842	30	4		4	ZNF236	18	74592173	Silent	SNP	C	TCGA-HC-8262-01A-11D-2260-08	62267012	74592173	3485075	44	9322											
NOTCH3	4854	broad.mit.edu	37	chr19	15311619	15311621	+	In_Frame_Del	DEL	AGC	AGC	-																															ctgcagcccccggccccgctAgcagcagcagcaggggcagc																										TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr19:15311619_15311621delAGC	ENST00000263388.2	-	1	171_173	c.96_98delGCT	c.(94-99)cta>ct	p.LL32del		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	32					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CGGCCCCGCTAGCAGCAGCAGCA	0.808													2	4	---	---	---	---						-	15311621	AGC	-	15311619	7	5	199	1	0	1	0	1	0	0	0	0	10597	420	15	0	6999	0	NOTCH3	19	15311619	In_Frame_Del	DEL	AGC	TCGA-HC-8262-01A-11D-2260-08		15311619	43817364	45	9323											
NLRP5	126206	broad.mit.edu	37	chr19	56552353	56552353	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcagccctcgtcagcaaccGgagcttgacacacctgtgcc	8	7	9	17	2	2	1	2	1	0	0	3	2	2	2	4	1	5	2	4	1	1	1			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr19:56552353G>A	ENST00000390649.3	+	11	2852	c.2852G>A	c.(2851-2853)cGg>cAg	p.R951Q		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	951						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GTCAGCAACCGGAGCTTGACA	0.567													3	113					0	0	1	0	0	A	56552353	G	A	56552353	3	1	199	1	0	0	0	0	1	0	0	0	10527	1116	39	1	2894	1	NLRP5	19	56552353	Missense_Mutation	SNP	G	TCGA-HC-8262-01A-11D-2260-08	41240734	56552353	2576630	46	9324											
CRYBB2	1415	broad.mit.edu	37	chr22	25627721	25627721	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtggcaccaacgtggtgcCttccacccctccaactagtg	8	8	9	16	1	0	0	0	0	0	0	2	0	2	0	6	2	3	1	6	2	3	2			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chr22:25627721C>T	ENST00000398215.2	+	6	771	c.600C>T	c.(598-600)gcC>gcT	p.A200A		NM_000496.2	NP_000487.1	P43320	CRBB2_HUMAN	crystallin, beta B2	200	C-terminal arm.				response to stimulus|visual perception		structural constituent of eye lens			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						AACGTGGTGCCTTCCACCCCT	0.622													17	50					0	0	1	0	0	T	25627721	C	T	25627721	2	4	199	1	0	0	0	0	0	0	0	1	3934	668	24	2		2	CRYBB2	22	25627721	Silent	SNP	C	TCGA-HC-8262-01A-11D-2260-08		25627721	25676845	47	9325											
DDX26B	203522	broad.mit.edu	37	chrX	134709032	134709032	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccttcatagtgttccagttGcacaaatgggtaactatcag	11	12	8	10	0	2	0	2	0	0	0	3	0	3	0	2	1	2	4	2	1	4	6			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chrX:134709032G>A	ENST00000370752.4	+	13	1988	c.1654G>A	c.(1654-1656)Gca>Aca	p.A552T	DDX26B_ENST00000493637.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	552										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					TGTTCCAGTTGCACAAATGGG	0.413													3	58					0	0	1	0	0	A	134709032	G	A	134709032	3	1	199	1	0	0	0	0	1	0	0	0	4376	1319	46	2	1704	2	DDX26B	23	134709032	Missense_Mutation	SNP	G	TCGA-HC-8262-01A-11D-2260-08		134709032	20561528	48	9326											
MAGEA6	4105	broad.mit.edu	37	chrX	151869832	151869832	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtggaccccatcggccaCgtgtacatctttgccacctg	8	9	10	14	2	1	0	0	0	1	0	2	2	1	1	5	2	2	1	5	2	2	2			TCGA-HC-8262-01A-11D-2260-08	TCGA-HC-8262-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e584de7a-84e8-4844-baec-3e5c0e6fbb9d	557d13df-5e0a-415f-847d-60d0b16f88c0	g.chrX:151869832C>T	ENST00000329342.5	+	3	747	c.522C>T	c.(520-522)caC>caT	p.H174H		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	174	MAGE.						protein binding	p.H174H(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CCATCGGCCACGTGTACATCT	0.532													3	60					0	0	1	0	0	T	151869832	C	T	151869832	2	4	199	1	0	0	0	0	0	0	0	1	9218	535	19	1		1	MAGEA6	23	151869832	Silent	SNP	C	TCGA-HC-8262-01A-11D-2260-08	17160800	151869832	3400728	49	9327											
KIF2C	11004	broad.mit.edu	37	chr1	45225999	45225999	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caattcctcccgctcccacgCgtgcttccaaattattcttc	7	13	4	17	3	1	0	0	0	1	0	6	0	5	0	4	0	1	2	4	0	3	5	rs150935880		TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr1:45225999C>T	ENST00000372217.1	+	14	1604	c.1253C>T	c.(1252-1254)gCg>gTg	p.A418V	KIF2C_ENST00000372222.3_Missense_Mutation_p.A359V|KIF2C_ENST00000372224.4_Missense_Mutation_p.A472V|KIF2C_ENST00000372218.4_Missense_Mutation_p.A431V|RP11-269F19.2_ENST00000440985.1_RNA|RP11-269F19.2_ENST00000428791.1_RNA			Q99661	KIF2C_HUMAN	kinesin family member 2C	472	Kinesin-motor.				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					CGCTCCCACGCGTGCTTCCAA	0.527													20	49					0	0	1	0	0	T	45225999	C	T	45225999	3	4	200	1	0	0	0	0	1	0	0	0	8341	768	27	1	1473	1	KIF2C	1	45225999	Missense_Mutation	SNP	C	TCGA-HC-8264-01B-11D-2395-08		45225999	204024622	1	9328											
ADAM30	11085	broad.mit.edu	37	chr1	120438879	120438879	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgaaaaattacatcttcGccaagagacttaaggagcat	15	9	10	7	1	1	2	0	1	1	1	2	4	1	3	1	2	2	1	1	2	5	3			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr1:120438879G>A	ENST00000369400.1	-	1	239	c.81C>T	c.(79-81)ggC>ggT	p.G27G		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	27					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		TTACATCTTCGCCAAGAGACT	0.512													19	40					0	0	1	0	0	A	120438879	G	A	120438879	2	1	200	1	0	0	0	0	0	0	0	1	247	1074	38	1		1	ADAM30	1	120438879	Silent	SNP	G	TCGA-HC-8264-01B-11D-2395-08	75212880	120438879	128811742	2	9329											
KCNN3	3782	broad.mit.edu	37	chr1	154744824	154744824	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacaggatgcgctcgtaggTcatggctatccgccagtcat	8	10	12	11	3	2	0	2	0	0	0	4	1	3	1	2	3	2	4	2	3	3	3			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr1:154744824T>C	ENST00000271915.3	-	3	1390	c.1075A>G	c.(1075-1077)Acc>Gcc	p.T359A	KCNN3_ENST00000361147.4_Missense_Mutation_p.T54A|KCNN3_ENST00000358505.2_Missense_Mutation_p.T46A	NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	364						integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			CGCTCGTAGGTCATGGCTATC	0.592													9	30					0	0	1	0	0	C	154744824	T	C	154744824	3	2	200	1	0	0	0	0	1	0	0	0	8124	1667	58	3	1144	3	KCNN3	1	154744824	Missense_Mutation	SNP	T	TCGA-HC-8264-01B-11D-2395-08	34305945	154744824	94505797	3	9330											
KIF26B	55083	broad.mit.edu	37	chr1	245850131	245850131	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcttccatcagctcctggctGagcgagatgagcgcgggcag	7	8	14	12	3	2	3	1	2	1	1	4	4	4	3	2	2	3	3	2	2	0	1			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr1:245850131G>A	ENST00000366518.4	+	9	2807	c.2703G>A	c.(2701-2703)ctG>ctA	p.L901L	KIF26B_ENST00000407071.2_Silent_p.L1282L			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1282					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GCTCCTGGCTGAGCGAGATGA	0.612													12	35					0	0	1	0	0	A	245850131	G	A	245850131	2	1	200	1	0	0	0	0	0	0	0	1	8337	1277	45	2		2	KIF26B	1	245850131	Silent	SNP	G	TCGA-HC-8264-01B-11D-2395-08	91105307	245850131	3400490	4	9331											
TANC1	85461	broad.mit.edu	37	chr2	160035657	160035657	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagacggggaaaacacggcCttcctgtgtgagcccaggta	10	6	14	11	2	0	2	0	1	0	1	1	3	1	3	3	4	2	2	3	4	3	2			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr2:160035657C>G	ENST00000263635.6	+	14	2730	c.2493C>G	c.(2491-2493)gcC>gcG	p.A831A	TANC1_ENST00000454300.1_Silent_p.A725A	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	831						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						AAAACACGGCCTTCCTGTGTG	0.537													46	77					0	0	1	0	0	G	160035657	C	G	160035657	2	3	200	1	0	0	0	0	0	0	0	1	15601	668	24	4		4	TANC1	2	160035657	Silent	SNP	C	TCGA-HC-8264-01B-11D-2395-08		160035657	83163716	5	9332											
CNTN6	27255	broad.mit.edu	37	chr3	1418725	1418725	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agtaaacatccatggaggtgGaggaagtcggtctgaactcg	12	8	14	7	2	1	1	0	1	1	0	4	4	2	4	1	5	2	1	1	5	4	1			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr3:1418725G>A	ENST00000446702.2	+	17	2759	c.2132G>A	c.(2131-2133)gGa>gAa	p.G711E	CNTN6_ENST00000350110.2_Missense_Mutation_p.G711E|CNTN6_ENST00000539053.1_Missense_Mutation_p.G639E			Q9UQ52	CNTN6_HUMAN	contactin 6	711	Fibronectin type-III 2.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CATGGAGGTGGAGGAAGTCGG	0.398													23	59					0	0	1	0	0	A	1418725	G	A	1418725	3	1	200	1	0	0	0	0	1	0	0	0	3668	1174	41	2	2194	2	CNTN6	3	1418725	Missense_Mutation	SNP	G	TCGA-HC-8264-01B-11D-2395-08		1418725	196603705	6	9333											
CAMK1	8536	broad.mit.edu	37	chr3	9799263	9799263	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggggacagttctgtgcccGgctccacgcagcagtctcga	6	8	14	13	3	2	0	0	0	2	0	4	2	3	1	2	3	2	4	2	3	0	1			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr3:9799263G>A	ENST00000256460.3	-	12	1250	c.1073C>T	c.(1072-1074)cCg>cTg	p.P358L	OGG1_ENST00000449570.2_Intron|OGG1_ENST00000349503.5_Intron|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000302036.7_Intron	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I	358					cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		TTCTGTGCCCGGCTCCACGCA	0.692													7	102					0	0	1	0	0	A	9799263	G	A	9799263	3	1	200	1	0	0	0	0	1	0	0	0	2614	1116	39	1	43	1	CAMK1	3	9799263	Missense_Mutation	SNP	G	TCGA-HC-8264-01B-11D-2395-08	8380538	9799263	188223167	7	9334											
VGLL4	9686	broad.mit.edu	37	chr3	11744471	11744471	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcatcagcatgcaccagaGatgctgccctggacaaaaca	13	6	9	13	1	2	1	2	0	0	1	2	3	2	2	2	1	5	3	2	1	2	0			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr3:11744471G>T	ENST00000273038.3	-	2	403	c.38C>A	c.(37-39)tCt>tAt	p.S13Y	VGLL4_ENST00000404339.1_5'UTR	NM_014667.2	NP_055482.2	Q14135	VGLL4_HUMAN	vestigial like 4 (Drosophila)	13					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.S13F(1)		NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)		ATGCACCAGAGATGCTGCCCT	0.373													3	18					0.115264	0.115264	1	1	0	T	11744471	G	T	11744471	3	4	200	1	0	0	0	0	1	0	0	0	17221	942	33	4	964	4	VGLL4	3	11744471	Missense_Mutation	SNP	G	TCGA-HC-8264-01B-11D-2395-08	1945208	11744471	186277959	8	9335											
ARPP21	10777	broad.mit.edu	37	chr3	35763246	35763246	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccgccatgaccaagacggCgagttttgggggcatcacgg	8	6	15	12	4	1	2	1	1	0	1	1	3	1	2	3	4	0	2	3	4	1	2			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr3:35763246C>T	ENST00000187397.4	+	14	1601	c.1145C>T	c.(1144-1146)gCg>gTg	p.A382V	ARPP21_ENST00000417925.1_Missense_Mutation_p.A348V|ARPP21_ENST00000337271.5_Missense_Mutation_p.A328V|ARPP21_ENST00000458225.1_Missense_Mutation_p.A348V|ARPP21_ENST00000444190.1_Missense_Mutation_p.A328V	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	382	Ser-rich.					cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						ACCAAGACGGCGAGTTTTGGG	0.537													6	29					0	0	1	0	0	T	35763246	C	T	35763246	3	4	200	1	0	0	0	0	1	0	0	0	977	768	27	1	1204	1	ARPP21	3	35763246	Missense_Mutation	SNP	C	TCGA-HC-8264-01B-11D-2395-08	24018775	35763246	162259184	9	9336											
EPHB1	2047	broad.mit.edu	37	chr3	134967232	134967232	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgctctacaccagctcatGctggactgttggcagaagga	9	9	12	11	0	2	1	1	0	1	1	2	3	2	3	1	3	4	6	1	3	2	2			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr3:134967232G>T	ENST00000398015.3	+	14	2941	c.2571G>T	c.(2569-2571)atG>atT	p.M857I	EPHB1_ENST00000493838.1_Missense_Mutation_p.M418I	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	857	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						ACCAGCTCATGCTGGACTGTT	0.577													37	76					7.53189e-24	8.15955e-24	1	1	0	T	134967232	G	T	134967232	3	4	200	1	0	0	0	0	1	0	0	0	5202	1319	46	4	2625	4	EPHB1	3	134967232	Missense_Mutation	SNP	G	TCGA-HC-8264-01B-11D-2395-08	99203986	134967232	63055198	10	9337											
WDR19	57728	broad.mit.edu	37	chr4	39230260	39230260	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcagcaacttaaaagatacGgggcctgacgaactgagacc	14	6	10	11	2	1	3	1	2	0	2	1	5	1	3	2	2	4	1	2	2	5	2			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr4:39230260G>T	ENST00000399820.3	+	17	2086	c.1932G>T	c.(1930-1932)acG>acT	p.T644T	WDR19_ENST00000515631.1_3'UTR|WDR19_ENST00000288634.7_Silent_p.T484T	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	644					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						TAAAAGATACGGGGCCTGACG	0.423													6	79					2.0095e-06	2.10673e-06	1	1	0	T	39230260	G	T	39230260	2	4	200	1	0	0	0	0	0	0	0	1	17339	1103	39	4		4	WDR19	4	39230260	Silent	SNP	G	TCGA-HC-8264-01B-11D-2395-08		39230260	151924016	11	9338											
UGT2B15	7366	broad.mit.edu	37	chr4	69536088	69536088	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agagaatcttccaaataattTttagttaaagatgtaggata	17	14	7	3	0	1	2	0	0	1	2	2	4	2	3	1	1	0	2	1	1	8	8			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr4:69536088T>A	ENST00000338206.5	-	1	258	c.249A>T	c.(247-249)aaA>aaT	p.K83N		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	83					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										CCAAATAATTTTTAGTTAAAG	0.308													31	81					0	0	1	0	0	A	69536088	T	A	69536088	3	1	200	1	0	0	0	0	1	0	0	0	17018	1838	64	5	2984	5	UGT2B15	4	69536088	Missense_Mutation	SNP	T	TCGA-HC-8264-01B-11D-2395-08	30305828	69536088	121618188	12	9339											
DCHS2	54798	broad.mit.edu	37	chr4	155241971	155241971	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cattgaagacatacaccaggGttcctatgggaacattctcc	12	10	8	11	0	1	2	0	1	1	1	3	3	2	3	3	2	2	1	3	2	4	5			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr4:155241971G>A	ENST00000357232.3	-	14	3214	c.3215C>T	c.(3214-3216)aCc>aTc	p.T1072I		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1072	Cadherin 9.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ATACACCAGGGTTCCTATGGG	0.428													30	56					0	0	1	0	0	A	155241971	G	A	155241971	3	1	200	1	0	0	0	0	1	0	0	0	4311	1261	44	2	5583	2	DCHS2	4	155241971	Missense_Mutation	SNP	G	TCGA-HC-8264-01B-11D-2395-08	85705883	155241971	35912305	13	9340											
GCNT4	51301	broad.mit.edu	37	chr5	74325284	74325284	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgggcatattccacagcCtctaatttggaagcaatgaa	13	11	9	8	0	1	1	0	1	1	0	2	2	2	2	2	2	2	2	2	2	5	4			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr5:74325284C>T	ENST00000322348.4	-	1	1440	c.579G>A	c.(577-579)gaG>gaA	p.E193E		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	193					protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		ATTCCACAGCCTCTAATTTGG	0.398													22	62					0	0	1	0	0	T	74325284	C	T	74325284	2	4	200	1	0	0	0	0	0	0	0	1	6343	680	24	2		2	GCNT4	5	74325284	Silent	SNP	C	TCGA-HC-8264-01B-11D-2395-08		74325284	106589976	14	9341											
DST	667	broad.mit.edu	37	chr6	56426236	56426236	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgattcttcctgagcctttTgcaatttggagagtttagtg	7	18	10	6	0	1	3	0	2	1	1	2	4	2	3	2	1	2	2	2	1	2	8			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr6:56426236T>C	ENST00000370754.5	-	57	14086	c.14087A>G	c.(14086-14088)cAa>cGa	p.Q4696R	DST_ENST00000244364.6_Missense_Mutation_p.Q2104R|DST_ENST00000421834.2_Missense_Mutation_p.Q2430R|DST_ENST00000361203.3_Missense_Mutation_p.Q4516R|DST_ENST00000446842.2_Missense_Mutation_p.Q4192R|DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Missense_Mutation_p.Q4518R|DST_ENST00000370788.2_Missense_Mutation_p.Q2430R			Q03001	DYST_HUMAN	dystonin	4516					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTGAGCCTTTTGCAATTTGGA	0.398													4	46					0	0	1	0	0	C	56426236	T	C	56426236	3	2	200	1	0	0	0	0	1	0	0	0	4809	1812	63	3	9392	3	DST	6	56426236	Missense_Mutation	SNP	T	TCGA-HC-8264-01B-11D-2395-08		56426236	114688831	15	9342											
TAAR5	9038	broad.mit.edu	37	chr6	132910431	132910431	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcacagatggcacagtggCggtcaatggaaatgaaacag	14	6	14	7	1	2	2	2	1	0	1	2	3	2	3	0	5	1	1	0	5	3	0			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr6:132910431C>T	ENST00000258034.2	-	1	446	c.395G>A	c.(394-396)cGc>cAc	p.R132H		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	132					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		GGCACAGTGGCGGTCAATGGA	0.582													33	99					0	0	1	0	0	T	132910431	C	T	132910431	3	4	200	1	0	0	0	0	1	0	0	0	15548	768	27	1	622	1	TAAR5	6	132910431	Missense_Mutation	SNP	C	TCGA-HC-8264-01B-11D-2395-08	76484195	132910431	38204636	16	9343											
FNDC1	84624	broad.mit.edu	37	chr6	159654482	159654482	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accgccacgcgtcccctgctCgtccgcccgcagcacggtca	5	5	10	21	7	1	0	1	0	0	0	4	0	3	0	6	1	2	3	6	1	0	0			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr6:159654482C>T	ENST00000297267.9	+	11	3138	c.2938C>T	c.(2938-2940)Cgt>Tgt	p.R980C	FNDC1_ENST00000340366.6_Missense_Mutation_p.R917C	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	980						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)		GTCCCCTGCTCGTCCGCCCGC	0.662													8	24					0	0	1	0	0	T	159654482	C	T	159654482	3	4	200	1	0	0	0	0	1	0	0	0	6001	884	31	1	2980	1	FNDC1	6	159654482	Missense_Mutation	SNP	C	TCGA-HC-8264-01B-11D-2395-08	26744051	159654482	11460585	17	9344											
BAI1	575	broad.mit.edu	37	chr8	143614732	143614732	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggctgtgctcgccgtcaccGaccgccgctccgccctcttc	2	8	10	21	7	2	0	1	0	1	0	5	1	3	0	6	1	1	3	6	1	0	1			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr8:143614732G>A	ENST00000517894.1	+	25	4369	c.3475G>A	c.(3475-3477)Gac>Aac	p.D1159N	BAI1_ENST00000323289.5_Missense_Mutation_p.D1159N			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1159					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CGCCGTCACCGACCGCCGCTC	0.657													10	32					0	0	1	0	0	A	143614732	G	A	143614732	3	1	200	1	0	0	0	0	1	0	0	0	1296	1058	37	1	3569	1	BAI1	8	143614732	Missense_Mutation	SNP	G	TCGA-HC-8264-01B-11D-2395-08		143614732	2749290	18	9345											
ELOVL3	83401	broad.mit.edu	37	chr10	103988611	103988611	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttcatcatcctgcgtaagCggccactcatctttattcac	8	13	5	15	2	5	0	4	0	1	0	6	0	6	0	3	1	2	1	3	1	2	5			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr10:103988611C>T	ENST00000370005.3	+	4	636	c.415C>T	c.(415-417)Cgg>Tgg	p.R139W		NM_152310.1	NP_689523.1	Q9HB03	ELOV3_HUMAN	ELOVL fatty acid elongase 3	139					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	p.R139W(1)		breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1)	16		Colorectal(252;0.207)		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)		CCTGCGTAAGCGGCCACTCAT	0.537													36	91					0	0	1	0	0	T	103988611	C	T	103988611	3	4	200	1	0	0	0	0	1	0	0	0	5103	759	27	1	429	1	ELOVL3	10	103988611	Missense_Mutation	SNP	C	TCGA-HC-8264-01B-11D-2395-08		103988611	31546136	19	9346											
IKZF5	64376	broad.mit.edu	37	chr10	124755532	124755532	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtggattctgatgtgttcAataagccgggctgttccttt	6	16	12	7	1	2	1	1	1	1	0	3	2	3	2	2	2	1	3	2	2	2	5			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr10:124755532A>C	ENST00000368886.5	-	4	614	c.294T>G	c.(292-294)atT>atG	p.I98M	PSTK_ENST00000497219.1_Intron	NM_001271840.1	NP_001258769.1	Q9H5V7	IKZF5_HUMAN	IKAROS family zinc finger 5 (Pegasus)	98					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|lung(3)|prostate(1)	6		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)		TGATGTGTTCAATAAGCCGGG	0.483													5	80					0	0	1	0	0	C	124755532	A	C	124755532	3	2	200	1	0	0	0	0	1	0	0	0	7662	126	5	5	973	5	IKZF5	10	124755532	Missense_Mutation	SNP	A	TCGA-HC-8264-01B-11D-2395-08	20766921	124755532	10779215	20	9347											
CKAP5	9793	broad.mit.edu	37	chr11	46772926	46772926	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttaatttgcataaggtgtgTagcagggtctttagggtcct	8	16	12	5	0	1	0	0	0	1	0	2	0	2	0	1	3	2	3	1	3	4	7			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr11:46772926T>C	ENST00000529230.1	-	39	5338	c.5292A>G	c.(5290-5292)ctA>ctG	p.L1764L	CKAP5_ENST00000415402.1_Silent_p.L1764L|CKAP5_ENST00000354558.3_Silent_p.L1704L|CKAP5_ENST00000312055.5_Silent_p.L1704L			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1764					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						ATAAGGTGTGTAGCAGGGTCT	0.428													37	73					0	0	1	0	0	C	46772926	T	C	46772926	2	2	200	1	0	0	0	0	0	0	0	1	3468	1625	57	3		3	CKAP5	11	46772926	Silent	SNP	T	TCGA-HC-8264-01B-11D-2395-08		46772926	88233590	21	9348											
GAB2	9846	broad.mit.edu	37	chr11	77937837	77937837	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgttgctgggcgtcttgaagGtgtacacatcctcattatct	7	15	10	9	1	3	1	1	1	2	0	4	1	4	1	1	2	2	3	1	2	3	4			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr11:77937837G>T	ENST00000361507.4	-	4	966	c.881C>A	c.(880-882)aCc>aAc	p.T294N	GAB2_ENST00000340149.2_Missense_Mutation_p.T256N	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	294					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			CGTCTTGAAGGTGTACACATC	0.592													8	79					0.000274275	0.000282982	1	1	0	T	77937837	G	T	77937837	3	4	200	1	0	0	0	0	1	0	0	0	6184	1261	44	4	1177	4	GAB2	11	77937837	Missense_Mutation	SNP	G	TCGA-HC-8264-01B-11D-2395-08	31164911	77937837	57068679	22	9349											
GUCY1A2	2977	broad.mit.edu	37	chr11	106558307	106558307	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccggaggaacatggtgcCgatgttgtaggaaacctttt	9	11	12	9	2	0	0	0	0	0	0	1	4	1	3	3	4	3	2	3	4	3	4			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr11:106558307C>T	ENST00000526355.1	-	8	2635	c.2167G>A	c.(2167-2169)Ggc>Agc	p.G723S	GUCY1A2_ENST00000282249.2_Missense_Mutation_p.G754S|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.G744S	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	723					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		AACATGGTGCCGATGTTGTAG	0.498													30	73					0	0	1	0	0	T	106558307	C	T	106558307	3	4	200	1	0	0	0	0	1	0	0	0	6934	652	23	1	35	1	GUCY1A2	11	106558307	Missense_Mutation	SNP	C	TCGA-HC-8264-01B-11D-2395-08	28620470	106558307	28448209	23	9350											
CEP164	22897	broad.mit.edu	37	chr11	117241960	117241960	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggagcaagacctggtctTccagaaaaagaggaaaatga	17	6	12	6	0	1	4	0	1	1	3	2	6	2	6	2	3	1	1	2	3	5	1			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr11:117241960T>C	ENST00000278935.3	+	9	1077	c.930T>C	c.(928-930)ctT>ctC	p.L310L	CEP164_ENST00000533706.1_3'UTR	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	310					cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		GACCTGGTCTTCCAGAAAAAG	0.562													51	95					0	0	1	0	0	C	117241960	T	C	117241960	2	2	200	1	0	0	0	0	0	0	0	1	3271	1770	62	3		3	CEP164	11	117241960	Silent	SNP	T	TCGA-HC-8264-01B-11D-2395-08	10683653	117241960	17764556	24	9351											
HSPA8	3312	broad.mit.edu	37	chr11	122929413	122929413	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagagacattgagtataccAttggcatcaatgtcaaaagt	15	10	9	7	0	2	2	2	1	0	1	2	3	2	2	1	1	1	3	1	1	5	4			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr11:122929413A>C	ENST00000534624.1	-	7	1725	c.1449T>G	c.(1447-1449)aaT>aaG	p.N483K	HSPA8_ENST00000532636.1_Missense_Mutation_p.N483K|HSPA8_ENST00000227378.3_Missense_Mutation_p.N483K|HSPA8_ENST00000526110.1_Missense_Mutation_p.N464K|HSPA8_ENST00000534319.1_Missense_Mutation_p.N247K|HSPA8_ENST00000533540.1_Missense_Mutation_p.N337K|HSPA8_ENST00000453788.2_Intron	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	483					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TGAGTATACCATTGGCATCAA	0.453													25	55					0	0	1	0	0	C	122929413	A	C	122929413	3	2	200	1	0	0	0	0	1	0	0	0	7459	214	8	5	503	5	HSPA8	11	122929413	Missense_Mutation	SNP	A	TCGA-HC-8264-01B-11D-2395-08	5687453	122929413	12077103	25	9352											
SLC24A6	0	broad.mit.edu	37	chr12	113758894	113758894	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactcccagaatcagaaacAggtagagcagccaggaaacc	16	4	10	11	0	1	4	1	1	0	3	2	5	2	5	3	2	4	2	3	2	4	1			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr12:113758894A>T	ENST00000552014.1	-	5	844	c.329T>A	c.(328-330)cTg>cAg	p.L110Q	SLC24A6_ENST00000553238.1_5'UTR|SLC24A6_ENST00000202831.3_Missense_Mutation_p.L110Q|SLC24A6_ENST00000546737.1_Missense_Mutation_p.L110Q			Q6J4K2	NCKX6_HUMAN		110					response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						AATCAGAAACAGGTAGAGCAG	0.622													20	55					0	0	1	0	0	T	113758894	A	T	113758894	3	4	200	1	0	0	0	0	1	0	0	0	14525	188	7	5	1477	5	SLC24A6	12	113758894	Missense_Mutation	SNP	A	TCGA-HC-8264-01B-11D-2395-08		113758894	20093001	26	9353											
SLITRK1	114798	broad.mit.edu	37	chr13	84455386	84455386	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cattgttttccatgtgcaaaCtaaccgcattataaaagtta	14	14	5	8	1	0	0	0	0	0	0	1	0	1	0	2	0	3	4	2	0	6	7			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr13:84455386C>G	ENST00000377084.2	-	1	1142	c.257G>C	c.(256-258)aGt>aCt	p.S86T		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	86						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CATGTGCAAACTAACCGCATT	0.453													29	44					0	0	1	0	0	G	84455386	C	G	84455386	3	3	200	1	0	0	0	0	1	0	0	0	14796	565	20	4	1837	4	SLITRK1	13	84455386	Missense_Mutation	SNP	C	TCGA-HC-8264-01B-11D-2395-08		84455386	30714492	27	9354											
PTPN9	5780	broad.mit.edu	37	chr15	75816566	75816566	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcactaagatggtgaattttCcactgaggatctcagaacga	13	11	9	8	1	2	4	2	2	1	2	4	6	3	5	1	2	1	0	1	2	3	3			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr15:75816566C>T	ENST00000306726.2	-	3	793	c.281G>A	c.(280-282)gGa>gAa	p.G94E		NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	94	CRAL-TRIO.					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGTGAATTTTCCACTGAGGAT	0.388													3	37					0	0	1	0	0	T	75816566	C	T	75816566	3	4	200	1	0	0	0	0	1	0	0	0	12846	855	30	2	1544	2	PTPN9	15	75816566	Missense_Mutation	SNP	C	TCGA-HC-8264-01B-11D-2395-08		75816566	26714826	28	9355											
PIGQ	9091	broad.mit.edu	37	chr16	630970	630970	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccggccctacaggctggCgggtaagtgctgcgtattgg	5	9	16	11	3	0	0	0	0	0	0	0	0	0	0	2	5	4	4	2	5	3	4			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr16:630970C>T	ENST00000321878.5	+	9	1688	c.1529C>T	c.(1528-1530)gCg>gTg	p.A510V	PIGQ_ENST00000026218.5_Missense_Mutation_p.A510V|PIGQ_ENST00000409527.2_Missense_Mutation_p.A510V	NM_004204.3	NP_004195.2	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	510	Leu-rich.				C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				TACAGGCTGGCGGGTAAGTGC	0.647													63	156					0	0	1	0	0	T	630970	C	T	630970	3	4	200	1	0	0	0	0	1	0	0	0	11944	768	27	1	1559	1	PIGQ	16	630970	Missense_Mutation	SNP	C	TCGA-HC-8264-01B-11D-2395-08		630970	89723783	29	9356											
MEFV	4210	broad.mit.edu	37	chr16	3299765	3299765	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcggggactcgcagccGtgtctggtggccttcctggg	3	8	18	12	3	1	0	0	0	1	0	3	1	2	1	3	6	2	2	3	6	0	1	rs104895155	byFrequency	TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr16:3299765G>A	ENST00000219596.1	-	3	965	c.926C>T	c.(925-927)aCg>aTg	p.T309M	MEFV_ENST00000541159.1_Missense_Mutation_p.T98M|MEFV_ENST00000536379.1_Missense_Mutation_p.T98M|MEFV_ENST00000339854.4_Missense_Mutation_p.T129M	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	309					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	ACTCGCAGCCGTGTCTGGTGG	0.602													7	38					0	0	1	0	0	A	3299765	G	A	3299765	3	1	200	1	0	0	0	0	1	0	0	0	9509	1145	40	1	1451	1	MEFV	16	3299765	Missense_Mutation	SNP	G	TCGA-HC-8264-01B-11D-2395-08	2668795	3299765	87054988	30	9357											
ZCCHC14	23174	broad.mit.edu	37	chr16	87451066	87451066	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccagaaaaccgacatacCttctccatggagagctgctt	12	8	8	13	1	1	2	0	0	1	2	2	4	1	2	4	1	5	2	4	1	3	3			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr16:87451066C>G	ENST00000268616.4	-	8	1189	c.972_splice	c.e8+1	p.K324_splice		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	324					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		ACCGACATACCTTCTCCATGG	0.493											OREG0024030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	64	140					0	0	1	0	0	G	87451066	C	G	87451066	5	3	200	1	0	0	0	0	0	0	1	0	17642	695	24	4	1901	4	ZCCHC14	16	87451066	Splice_Site	SNP	C	TCGA-HC-8264-01B-11D-2395-08	84151301	87451066	2903687	31	9358											
SLC13A2	9058	broad.mit.edu	37	chr17	26818588	26818588	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcatcgggggcatcgccacGctgactggcaccgcacccaa	9	4	12	16	4	0	1	0	1	0	0	2	1	0	1	3	3	1	5	3	3	1	0			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr17:26818588G>A	ENST00000444914.3	+	5	1275	c.855G>A	c.(853-855)acG>acA	p.T285T	SLC13A2_ENST00000545060.1_Silent_p.T193T|SLC13A2_ENST00000537681.1_Silent_p.T165T|SLC13A2_ENST00000314669.5_Silent_p.T236T	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	236						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	GCATCGCCACGCTGACTGGCA	0.627													66	93					0	0	1	0	0	A	26818588	G	A	26818588	2	1	200	1	0	0	0	0	0	0	0	1	14447	1074	38	1		1	SLC13A2	17	26818588	Silent	SNP	G	TCGA-HC-8264-01B-11D-2395-08		26818588	54376622	32	9359											
C17orf53	78995	broad.mit.edu	37	chr17	42226166	42226166	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tactccctcaaggactagctCtggattatttcctcggatac	9	13	7	12	1	2	0	1	0	1	0	5	3	4	3	2	3	3	1	2	3	5	5			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr17:42226166C>G	ENST00000319977.4	+	3	1232	c.995C>G	c.(994-996)tCt>tGt	p.S332C	C17orf53_ENST00000245382.6_Missense_Mutation_p.S332C|C17orf53_ENST00000585683.1_Missense_Mutation_p.S332C	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	332										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		AGGACTAGCTCTGGATTATTT	0.517													93	180					0	0	1	0	0	G	42226166	C	G	42226166	3	3	200	1	0	0	0	0	1	0	0	0	1871	913	32	4	1005	4	C17orf53	17	42226166	Missense_Mutation	SNP	C	TCGA-HC-8264-01B-11D-2395-08	15407578	42226166	38969044	33	9360											
LAMA3	3909	broad.mit.edu	37	chr18	21501019	21501019	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acaacggcagagaccattcgGtacaccttttgagtctgttt	10	12	9	10	2	1	2	0	1	1	1	2	3	1	2	2	2	2	3	2	2	2	5			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr18:21501019G>T	ENST00000313654.9	+	61	8284		c.e61+1		LAMA3_ENST00000399516.3_Splice_Site|LAMA3_ENST00000588770.1_Splice_Site|LAMA3_ENST00000587184.1_Splice_Site|LAMA3_ENST00000269217.6_Splice_Site	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3						cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGACCATTCGGTACACCTTTT	0.388													9	17					5.4927e-09	5.85288e-09	1	1	0	T	21501019	G	T	21501019	5	4	200	1	0	0	0	0	0	0	1	0	8646	1275	44	4	8461	4	LAMA3	18	21501019	Splice_Site	SNP	G	TCGA-HC-8264-01B-11D-2395-08		21501019	56576229	34	9361											
ARID3A	1820	broad.mit.edu	37	chr19	932529	932529	+	Frame_Shift_Del	DEL	C	C	-																															gaggacgaggaggggctgggCcccccaggccctgccagctt																										TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr19:932529delC	ENST00000263620.3	+	3	807	c.480delC	c.(478-480)ggfs	p.G160fs		NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	160						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		aggGGCTGGGCCCCCCAGGCC	0.692													6	10	---	---	---	---						-	932529	C	-	932529	7	5	200	1	0	1	0	1	0	0	0	0	913	726	26	0	486	0	ARID3A	19	932529	Frame_Shift_Del	DEL	C	TCGA-HC-8264-01B-11D-2395-08		932529	58196454	35	9362											
CEACAM7	1087	broad.mit.edu	37	chr19	42192031	42192031	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggaagtcctcccctcacCtgtgagcaggagcccctgcc	7	6	10	18	0	1	1	1	1	0	0	3	3	3	3	8	2	3	1	8	2	1	0			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr19:42192031C>T	ENST00000006724.3	-	1	265	c.64_splice	c.e1+1	p.A22_splice	CEACAM7_ENST00000338196.4_Splice_Site_p.A22_splice|CEACAM7_ENST00000602225.1_Splice_Site_p.A22_splice|CEACAM7_ENST00000599715.1_Intron|CEACAM7_ENST00000401731.1_Splice_Site_p.A22_splice	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	22						anchored to membrane|integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		CTCCCCTCACCTGTGAGCAGG	0.632													21	49					0	0	1	0	0	T	42192031	C	T	42192031	5	4	200	1	0	0	0	0	0	0	1	0	3219	695	24	2	749	2	CEACAM7	19	42192031	Splice_Site	SNP	C	TCGA-HC-8264-01B-11D-2395-08	41259502	42192031	16936952	36	9363											
ZNF628	89887	broad.mit.edu	37	chr19	55995366	55995366	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggacgagggcttgcagagcGtgctggtgctgagcggggcc	5	6	20	10	4	0	2	0	1	0	1	0	4	0	3	1	5	5	4	1	5	0	1			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr19:55995366G>A	ENST00000598519.1	+	3	3359	c.2806G>A	c.(2806-2808)Gtg>Atg	p.V936M	ZNF628_ENST00000391718.2_Missense_Mutation_p.V932M	NM_033113.2	NP_149104.3	Q5EBL2	ZN628_HUMAN	zinc finger protein 628	932						nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		CTTGCAGAGCGTGCTGGTGCT	0.677													6	17					0	0	1	0	0	A	55995366	G	A	55995366	3	1	200	1	0	0	0	0	1	0	0	0	18109	1145	40	1	2796	1	ZNF628	19	55995366	Missense_Mutation	SNP	G	TCGA-HC-8264-01B-11D-2395-08	13803335	55995366	3133617	37	9364											
MAPRE1	22919	broad.mit.edu	37	chr20	31421540	31421540	+	Frame_Shift_Del	DEL	T	T	-																															caggggctgcgtattgtcagTttatggacatgctgttccct																										TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr20:31421540delT	ENST00000375571.5	+	3	278	c.139delT	c.(139-141)ttfs	p.F47fs		NM_012325.2	NP_036457.1	Q15691	MARE1_HUMAN	microtubule-associated protein, RP/EB family, member 1	47	CH.				cell division|cell proliferation|G2/M transition of mitotic cell cycle|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule	centrosome|cortical microtubule cytoskeleton|cytosol	microtubule plus-end binding|protein C-terminus binding			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						GTATTGTCAGTTTATGGACAT	0.413													27	48	---	---	---	---						-	31421540	T	-	31421540	7	5	200	1	0	1	0	1	0	0	0	0	9344	1725	60	0	145	0	MAPRE1	20	31421540	Frame_Shift_Del	DEL	T	TCGA-HC-8264-01B-11D-2395-08		31421540	31603980	38	9365											
GRIK1	2897	broad.mit.edu	37	chr21	31066220	31066220	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggaaaatagttacctctcCgcgaggcttcaaaactatca	13	10	8	10	2	3	0	2	0	1	0	4	2	3	1	2	2	2	2	2	2	7	4			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr21:31066220C>T	ENST00000399914.1	-	2	802	c.281G>A	c.(280-282)cGg>cAg	p.R94Q	GRIK1_ENST00000389124.2_Missense_Mutation_p.R94Q|GRIK1_ENST00000389125.3_Missense_Mutation_p.R94Q|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000399909.1_Missense_Mutation_p.R94Q|GRIK1_ENST00000535441.1_Missense_Mutation_p.R94Q|GRIK1_ENST00000309434.7_Missense_Mutation_p.R94Q|GRIK1_ENST00000327783.4_Missense_Mutation_p.R94Q|GRIK1_ENST00000399907.1_Missense_Mutation_p.R94Q|GRIK1_ENST00000399913.1_Missense_Mutation_p.R94Q			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	94					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	GTTACCTCTCCGCGAGGCTTC	0.433													24	52					0	0	1	0	0	T	31066220	C	T	31066220	3	4	200	1	0	0	0	0	1	0	0	0	6814	652	23	1	2699	1	GRIK1	21	31066220	Missense_Mutation	SNP	C	TCGA-HC-8264-01B-11D-2395-08		31066220	17063675	39	9366											
ITSN1	6453	broad.mit.edu	37	chr21	35237515	35237515	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgaagatgattggagaCatcctgagcgcacagctgcc	10	8	12	11	1	0	5	0	3	0	2	1	6	1	5	3	1	3	2	3	1	1	1			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chr21:35237515C>T	ENST00000381318.3	+	32	4239	c.3951C>T	c.(3949-3951)gaC>gaT	p.D1317D	ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000399367.3_Silent_p.D1312D|ITSN1_ENST00000381285.4_Silent_p.D1317D|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Silent_p.D1312D	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1317	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TGATTGGAGACATCCTGAGCG	0.617													7	26					0	0	1	0	0	T	35237515	C	T	35237515	2	4	200	1	0	0	0	0	0	0	0	1	7970	477	17	2		2	ITSN1	21	35237515	Silent	SNP	C	TCGA-HC-8264-01B-11D-2395-08	4171295	35237515	12892380	40	9367											
DMD	1756	broad.mit.edu	37	chrX	31986568	31986568	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaggattgctgaattatttCttccccagttgcattcaatg	9	16	8	8	0	2	2	1	2	1	0	3	3	3	3	2	1	2	3	2	1	3	6			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chrX:31986568C>G	ENST00000357033.4	-	45	6708	c.6502G>C	c.(6502-6504)Gaa>Caa	p.E2168Q	DMD_ENST00000378707.3_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000378677.2_Missense_Mutation_p.E2164Q|DMD_ENST00000359836.1_5'UTR|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000541735.1_5'UTR	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2168					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TGAATTATTTCTTCCCCAGTT	0.448													12	26					0	0	1	0	0	G	31986568	C	G	31986568	3	3	200	1	0	0	0	0	1	0	0	0	4608	922	32	4	4843	4	DMD	23	31986568	Missense_Mutation	SNP	C	TCGA-HC-8264-01B-11D-2395-08		31986568	123283992	41	9368											
SLC16A2	6567	broad.mit.edu	37	chrX	73740921	73740921	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccgaatcacagcaaccgCgggggctgccgttgctttca	7	8	12	14	4	2	0	2	0	0	0	2	1	2	0	3	2	5	4	3	2	2	2			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chrX:73740921C>T	ENST00000276033.5	+	2	915	c.749C>T	c.(748-750)gCg>gTg	p.A250V	SLC16A2_ENST00000587091.1_Missense_Mutation_p.A176V			P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	176						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					Pyruvic acid(DB00119)	ACAGCAACCGCGGGGGCTGCC	0.532													23	14					0	0	1	0	0	T	73740921	C	T	73740921	3	4	200	1	0	0	0	0	1	0	0	0	14463	768	27	1	755	1	SLC16A2	23	73740921	Missense_Mutation	SNP	C	TCGA-HC-8264-01B-11D-2395-08	41754353	73740921	81529639	42	9369											
RPS6KA6	27330	broad.mit.edu	37	chrX	83411191	83411194	+	Frame_Shift_Del	DEL	TCCT	TCCT	-																															atagggatttctttaacaacTccttcatcctgtaaaaagaa																										TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chrX:83411191_83411194delTCCT	ENST00000262752.2	-	3	154_157	c.147_150delAGGA	c.(145-150)gafs	p.EG49fs	RPS6KA6_ENST00000543399.1_Frame_Shift_Del_p.EG49fs	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	49					axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						CTTTAACAACTCCTTCATCCTGTA	0.358													4	8	---	---	---	---						-	83411194	TCCT	-	83411191	7	5	200	1	0	1	0	1	0	0	0	0	13707	1538	54	0	2167	0	RPS6KA6	23	83411191	Frame_Shift_Del	DEL	TCCT	TCGA-HC-8264-01B-11D-2395-08	9670270	83411191	71859369	43	9370											
AFF2	2334	broad.mit.edu	37	chrX	148037365	148037365	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcattagggagaaagcccGtccacggcccactcagaaaa	13	6	9	13	2	2	2	2	0	1	2	4	3	3	2	3	2	1	0	3	2	4	1			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chrX:148037365G>A	ENST00000370460.2	+	11	2269	c.1790G>A	c.(1789-1791)cGt>cAt	p.R597H	AFF2_ENST00000286437.5_Missense_Mutation_p.R238H|AFF2_ENST00000370457.5_Missense_Mutation_p.R564H|AFF2_ENST00000342251.3_Missense_Mutation_p.R564H	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	597					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	p.R597H(3)|p.R238H(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GAGAAAGCCCGTCCACGGCCC	0.468													55	23					0	0	1	0	0	A	148037365	G	A	148037365	3	1	200	1	0	0	0	0	1	0	0	0	356	1145	40	1	1887	1	AFF2	23	148037365	Missense_Mutation	SNP	G	TCGA-HC-8264-01B-11D-2395-08	64626174	148037365	7233195	44	9371											
HCFC1	3054	broad.mit.edu	37	chrX	153222853	153222853	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggtggtactgggggagacGctgctgatgcccaggatggt	6	10	18	7	1	0	2	0	1	0	1	0	4	0	3	1	6	3	3	1	6	1	2			TCGA-HC-8264-01B-11D-2395-08	TCGA-HC-8264-10A-01D-2395-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	80ed0e60-9bf6-4407-9f9c-108672829690	50901c39-beb1-4a69-a21b-7ea825f55510	g.chrX:153222853G>A	ENST00000310441.7	-	13	3231	c.2265C>T	c.(2263-2265)agC>agT	p.S755S	HCFC1_ENST00000354233.3_Silent_p.S686S|HCFC1_ENST00000369984.4_Silent_p.S755S	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	755	Interaction with ZBTB17.				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGGGGAGACGCTGCTGATGC	0.647													100	46					0	0	1	0	0	A	153222853	G	A	153222853	2	1	200	1	0	0	0	0	0	0	0	1	7032	1078	38	1		1	HCFC1	23	153222853	Silent	SNP	G	TCGA-HC-8264-01B-11D-2395-08	5185488	153222853	2047707	45	9372											
ALG14	199857	broad.mit.edu	37	chr1	95538385	95538385	+	Frame_Shift_Del	DEL	C	C	-																															gtccatggaacgaagcactaCccatattcgcaggattagga																										TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr1:95538385delC	ENST00000370205.4	-	1	116	c.70delG	c.(70-72)tafs	p.V25fs	ALG14_ENST00000495856.1_5'UTR	NM_144988.3	NP_659425.1	Q96F25	ALG14_HUMAN	ALG14, UDP-N-acetylglucosaminyltransferase subunit	25					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	6		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.0615)|Epithelial(280;0.139)		CGAAGCACTACCCATATTCGC	0.577													9	146	---	---	---	---						-	95538385	C	-	95538385	7	5	201	1	0	1	0	1	0	0	0	0	513	507	18	0	596	0	ALG14	1	95538385	Frame_Shift_Del	DEL	C	TCGA-HC-8265-01A-11D-2260-08		95538385	153712236	1	9373											
KCNT2	343450	broad.mit.edu	37	chr1	196274364	196274364	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgataatgtggggtcttacCttttccagttttgaaagagc	9	16	10	6	0	1	3	0	2	1	1	2	3	2	3	2	2	2	1	2	2	3	7			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr1:196274364C>A	ENST00000367433.5	-	21	2624	c.2523_splice	c.e21+1	p.K841_splice	KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Splice_Site_p.K865_splice|KCNT2_ENST00000367431.4_Splice_Site_p.K791_splice|KCNT2_ENST00000451324.2_Intron			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	865						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GGGGTCTTACCTTTTCCAGTT	0.338													3	33					0.00024832	0.000263523	1	1	0	A	196274364	C	A	196274364	5	1	201	1	0	0	0	0	0	0	1	0	8136	695	24	4	840	4	KCNT2	1	196274364	Splice_Site	SNP	C	TCGA-HC-8265-01A-11D-2260-08	100735979	196274364	52976257	2	9374											
OBSCN	84033	broad.mit.edu	37	chr1	228444583	228444583	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcgccggggagtacagctGcgaggcggggagccagcggc	6	3	21	11	5	0	0	0	0	0	0	1	3	0	2	2	7	5	2	2	7	1	1			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr1:228444583G>A	ENST00000570156.2	+	16	4891	c.4817G>A	c.(4816-4818)tGc>tAc	p.C1606Y	OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.C78Y|OBSCN_ENST00000284548.11_Missense_Mutation_p.C1514Y|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.C1514Y	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	587	Ig-like 16.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GAGTACAGCTGCGAGGCGGGG	0.647													15	39					0	0	1	0	0	A	228444583	G	A	228444583	3	1	201	1	0	0	0	0	1	0	0	0	10860	1319	46	2	4595	2	OBSCN	1	228444583	Missense_Mutation	SNP	G	TCGA-HC-8265-01A-11D-2260-08	32170219	228444583	20806038	3	9375											
POTEE	445582	broad.mit.edu	37	chr2	131976139	131976139	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccacgacgactctgctatgaAgacactcaggagcaagatgg	13	6	11	11	2	2	3	1	1	1	2	2	6	2	4	1	2	2	2	1	2	3	1			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr2:131976139A>C	ENST00000356920.5	+	1	258	c.164A>C	c.(163-165)aAg>aCg	p.K55T	PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.K55T	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	55							ATP binding										TCTGCTATGAAGACACTCAGG	0.607													15	266					0	0	1	0	0	C	131976139	A	C	131976139	3	2	201	1	0	0	0	0	1	0	0	0	12311	72	3	5	166	5	POTEE	2	131976139	Missense_Mutation	SNP	A	TCGA-HC-8265-01A-11D-2260-08		131976139	111223234	4	9376											
TTN	7273	broad.mit.edu	37	chr2	179397722	179397722	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcgtggctctggtacatcAtaaggcatccggagttttct	7	14	11	9	2	3	0	1	0	2	0	4	1	4	1	1	4	2	4	1	4	2	5			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr2:179397722A>T	ENST00000589042.1	-	358	103844	c.103620T>A	c.(103618-103620)taT>taA	p.Y34540*	TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.Y32899*|TTN_ENST00000359218.5_Nonsense_Mutation_p.Y25600*|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.Y31972*|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.Y25667*|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.Y25475*|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32899							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGGTACATCATAAGGCATCC	0.438													34	120					0	0	1	0	0	T	179397722	A	T	179397722	4	4	201	1	0	0	0	0	0	1	0	0	16797	224	8	5	4379	5	TTN	2	179397722	Nonsense_Mutation	SNP	A	TCGA-HC-8265-01A-11D-2260-08	47421583	179397722	63801651	5	9377											
TTN	7273	broad.mit.edu	37	chr2	179530153	179530153	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtacatcctcaaatattttCatttcagggacaacttcttt	11	16	5	9	0	4	0	3	0	1	0	5	1	5	1	1	2	2	1	1	2	4	7			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr2:179530153C>A	ENST00000589042.1	-	165	36218	c.35994G>T	c.(35992-35994)atG>atT	p.M11998I	TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10144	Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAAATATTTTCATTTCAGGGA	0.368													16	120					0.006122	0.00636688	1	1	0	A	179530153	C	A	179530153	3	1	201	1	0	0	0	0	1	0	0	0	16797	841	29	4		4	TTN	2	179530153	Missense_Mutation	SNP	C	TCGA-HC-8265-01A-11D-2260-08	132431	179530153	63669220	6	9378											
STAT1	6772	broad.mit.edu	37	chr2	191862718	191862718	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacattcagcaactctattaTtttgtgaactacttcctaaa	13	15	4	9	0	2	1	1	1	1	0	3	2	3	1	1	0	4	1	1	0	7	8			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr2:191862718T>G	ENST00000361099.3	-	9	1036	c.649A>C	c.(649-651)Ata>Cta	p.I217L	STAT1_ENST00000392322.3_Missense_Mutation_p.I217L|STAT1_ENST00000409465.1_Missense_Mutation_p.I217L|STAT1_ENST00000540176.1_Missense_Mutation_p.N186T|STAT1_ENST00000392323.2_Missense_Mutation_p.I219L	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	217					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	AACTCTATTATTTTGTGAACT	0.343													15	27					0	0	1	0	0	G	191862718	T	G	191862718	3	3	201	1	0	0	0	0	1	0	0	0	15320	1493	52	5	1675	5	STAT1	2	191862718	Missense_Mutation	SNP	T	TCGA-HC-8265-01A-11D-2260-08	12332565	191862718	51336655	7	9379											
LANCL1	10314	broad.mit.edu	37	chr2	211336687	211336687	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agtcagcacttcatacctgcCcagccagtgtaaccggtgcc	9	8	9	15	1	2	0	2	0	0	0	2	0	2	0	5	1	6	2	5	1	2	3			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr2:211336687C>T	ENST00000443314.1	-	2	537	c.195G>A	c.(193-195)tgG>tgA	p.W65*	LANCL1_ENST00000431941.2_Nonsense_Mutation_p.W65*|LANCL1_ENST00000450366.2_Nonsense_Mutation_p.W65*|LANCL1_ENST00000441020.3_Nonsense_Mutation_p.W65*|LANCL1_ENST00000233714.4_Nonsense_Mutation_p.W65*			O43813	LANC1_HUMAN	LanC lantibiotic synthetase component C-like 1 (bacterial)	65						cytoplasm|integral to plasma membrane|microtubule cytoskeleton|nucleus	catalytic activity|G-protein coupled receptor activity|glutathione binding|low-density lipoprotein particle receptor binding|SH3 domain binding|zinc ion binding			breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12				Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)		TCATACCTGCCCAGCCAGTGT	0.502													108	395					0	0	1	0	0	T	211336687	C	T	211336687	4	4	201	1	0	0	0	0	0	1	0	0	8659	624	22	2	1036	2	LANCL1	2	211336687	Nonsense_Mutation	SNP	C	TCGA-HC-8265-01A-11D-2260-08	19473969	211336687	31862686	8	9380											
TNS1	7145	broad.mit.edu	37	chr2	218712884	218712884	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgctggcgtggaggtgggcGaggctgctgctgctgctgct	2	10	19	10	2	0	0	0	0	0	0	0	2	0	1	0	5	6	7	0	5	0	0			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr2:218712884G>A	ENST00000171887.4	-	17	2433	c.1981C>T	c.(1981-1983)Cgc>Tgc	p.R661C	TNS1_ENST00000419504.1_Missense_Mutation_p.R661C|TNS1_ENST00000430930.1_Missense_Mutation_p.R661C	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	661	Gln-rich.					cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GGAGGTGGGCGAGgctgctgc	0.667													3	6					0	0	1	0	0	A	218712884	G	A	218712884	3	1	201	1	0	0	0	0	1	0	0	0	16403	1058	37	1	3294	1	TNS1	2	218712884	Missense_Mutation	SNP	G	TCGA-HC-8265-01A-11D-2260-08	7376197	218712884	24486489	9	9381											
UGT1A7	0	broad.mit.edu	37	chr2	234591302	234591302	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattctccaaacccctgtcaCggcatatgatctctacagcc	11	10	5	15	1	3	1	1	1	2	0	5	1	3	1	4	1	3	1	4	1	4	3			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr2:234591302C>T	ENST00000373426.3	+	1	719	c.719C>T	c.(718-720)aCg>aTg	p.T240M	UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron	NM_019077.2	NP_061950.2														NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)		ACCCCTGTCACGGCATATGAT	0.408													28	514					0	0	1	0	0	T	234591302	C	T	234591302	3	4	201	1	0	0	0	0	1	0	0	0	17010	536	19	1	721	1	UGT1A7	2	234591302	Missense_Mutation	SNP	C	TCGA-HC-8265-01A-11D-2260-08	15878418	234591302	8608071	10	9382											
AGXT	189	broad.mit.edu	37	chr2	241814527	241814527	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctgcttctttctccccagaAagaagatgtactcccgcaag	10	10	7	14	1	2	3	0	0	2	3	4	3	3	3	4	0	2	3	4	0	4	3			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr2:241814527A>C	ENST00000307503.3	+	7	1069	c.680_splice	c.e7-1	p.K228_splice		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	228					glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	TCTCCCCAGAAAGAAGATGTA	0.587													16	37					0	0	1	0	0	C	241814527	A	C	241814527	5	2	201	1	0	0	0	0	0	0	1	0	401	28	1	5	708	5	AGXT	2	241814527	Splice_Site	SNP	A	TCGA-HC-8265-01A-11D-2260-08	7223225	241814527	1384846	11	9383											
TBC1D5	9779	broad.mit.edu	37	chr3	17413717	17413717	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtggtctagcaaagggaatgGgagtcatcagtgtttctttc	9	13	13	6	0	4	0	2	0	2	0	5	2	4	2	0	3	1	2	0	3	3	3			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr3:17413717G>T	ENST00000253692.7	-	13	2509	c.845C>A	c.(844-846)cCc>cAc	p.P282H	TBC1D5_ENST00000446818.2_Missense_Mutation_p.P282H|TBC1D5_ENST00000429924.2_Missense_Mutation_p.P234H|TBC1D5_ENST00000414318.2_Intron|TBC1D5_ENST00000429383.4_Missense_Mutation_p.P282H	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	282	Rab-GAP TBC.					intracellular	protein binding|Rab GTPase activator activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						AAAGGGAATGGGAGTCATCAG	0.328													3	70					1	1	1	1	0	T	17413717	G	T	17413717	3	4	201	1	0	0	0	0	1	0	0	0	15683	1232	43	4	1652	4	TBC1D5	3	17413717	Missense_Mutation	SNP	G	TCGA-HC-8265-01A-11D-2260-08		17413717	180608713	12	9384											
TOP2B	7155	broad.mit.edu	37	chr3	25654130	25654130	+	Frame_Shift_Del	DEL	C	C	-																															gtttcttcaccttaggtttgCcaactttacctttaattgct																										TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr3:25654130delC	ENST00000435706.2	-	28	3848	c.3647delG	c.(3646-3648)gcfs	p.G1216fs	TOP2B_ENST00000540199.1_Frame_Shift_Del_p.G73fs|TOP2B_ENST00000542520.1_Frame_Shift_Del_p.G73fs|TOP2B_ENST00000264331.4_Frame_Shift_Del_p.G1221fs|TOP2B_ENST00000475717.1_5'UTR			Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	1221					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity	p.G1216D(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						CTTAGGTTTGCCAACTTTACC	0.408													37	111	---	---	---	---						-	25654130	C	-	25654130	7	5	201	1	0	1	0	1	0	0	0	0	16427	739	26	0	1254	0	TOP2B	3	25654130	Frame_Shift_Del	DEL	C	TCGA-HC-8265-01A-11D-2260-08	8240413	25654130	172368300	13	9385											
IL12A	3592	broad.mit.edu	37	chr3	159710861	159710861	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgatcatgaagatatcacAaaagataaaaccagcacagt	20	8	6	7	0	2	4	2	2	0	2	2	4	2	4	1	0	2	1	1	0	6	3			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr3:159710861A>G	ENST00000305579.2	+	3	634	c.327A>G	c.(325-327)acA>acG	p.T109T	IL12A_ENST00000480787.1_Intron|IL12A_ENST00000466512.1_Silent_p.T109T|CTD-2049J23.2_ENST00000497452.1_RNA	NM_000882.3	NP_000873.2	P29459	IL12A_HUMAN	interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35)	75					cell cycle arrest|cell migration|defense response to Gram-positive bacterium|immune response|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of cell adhesion|positive regulation of interferon-gamma production|positive regulation of natural killer cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of NK T cell activation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of tyrosine phosphorylation of Stat4 protein|response to lipopolysaccharide|response to UV-B|response to virus	interleukin-12 complex	cytokine activity|growth factor activity|interleukin-12 receptor binding|interleukin-27 binding|protein heterodimerization activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	9			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AAGATATCACAAAAGATAAAA	0.378													4	74					0	0	1	0	0	G	159710861	A	G	159710861	2	3	201	1	0	0	0	0	0	0	0	1	7668	117	5	3		3	IL12A	3	159710861	Silent	SNP	A	TCGA-HC-8265-01A-11D-2260-08	134056731	159710861	38311569	14	9386											
OPA1	4976	broad.mit.edu	37	chr3	193332788	193332788	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcttaaaacttcgctatctCatactaggatcggctgttgg	9	14	8	10	2	2	0	1	0	2	0	5	1	2	1	0	3	2	3	0	3	5	6			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr3:193332788C>T	ENST00000361510.2	+	2	543	c.309C>T	c.(307-309)ctC>ctT	p.L103L	OPA1_ENST00000487986.1_3'UTR|OPA1_ENST00000361828.2_Silent_p.L103L|OPA1_ENST00000361908.3_Silent_p.L103L|OPA1_ENST00000392438.3_Silent_p.L103L|OPA1_ENST00000361150.2_Silent_p.L103L|OPA1_ENST00000361715.2_Silent_p.L103L	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	103					apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		TTCGCTATCTCATACTAGGAT	0.403													5	60					0	0	1	0	0	T	193332788	C	T	193332788	2	4	201	1	0	0	0	0	0	0	0	1	10919	813	29	2		2	OPA1	3	193332788	Silent	SNP	C	TCGA-HC-8265-01A-11D-2260-08	33621927	193332788	4689642	15	9387											
PPARGC1A	10891	broad.mit.edu	37	chr4	23815648	23815648	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcattactgaaatcactGtccctcagttcaccggtctt	8	15	6	12	1	5	1	4	1	1	0	6	1	6	1	2	1	1	2	2	1	2	4			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr4:23815648G>A	ENST00000264867.2	-	8	1577	c.1458C>T	c.(1456-1458)gaC>gaT	p.D486D	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	486					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TGAAATCACTGTCCCTCAGTT	0.453													34	102					0	0	1	0	0	A	23815648	G	A	23815648	2	1	201	1	0	0	0	0	0	0	0	1	12345	1368	48	2		2	PPARGC1A	4	23815648	Silent	SNP	G	TCGA-HC-8265-01A-11D-2260-08		23815648	167338628	16	9388											
GABRG1	2565	broad.mit.edu	37	chr4	46043172	46043172	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagaagaagctggcacaatCtttgccctccaaacactgat	14	8	7	12	0	1	3	0	1	1	2	2	3	2	3	2	1	3	2	2	1	4	1			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr4:46043172C>A	ENST00000295452.4	-	9	1398	c.1231G>T	c.(1231-1233)Gat>Tat	p.D411Y		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	411					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.D411N(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		CTGGCACAATCTTTGCCCTCC	0.438													5	81					0.000157383	0.000168741	1	1	0	A	46043172	C	A	46043172	3	1	201	1	0	0	0	0	1	0	0	0	6206	913	32	4	170	4	GABRG1	4	46043172	Missense_Mutation	SNP	C	TCGA-HC-8265-01A-11D-2260-08	22227524	46043172	145111104	17	9389											
IL31RA	133396	broad.mit.edu	37	chr5	55204129	55204129	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgagaccaaggtggagaacaTtggcgtgaagacggtcacga	13	6	15	7	3	1	4	1	2	0	3	1	7	1	4	1	4	1	0	1	4	3	1			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr5:55204129T>C	ENST00000396834.1	+	13	1830	c.1334T>C	c.(1333-1335)aTt>aCt	p.I445T	IL31RA_ENST00000297015.3_Missense_Mutation_p.I322T|IL31RA_ENST00000490985.1_Missense_Mutation_p.I322T|IL31RA_ENST00000447346.2_Missense_Mutation_p.I464T|IL31RA_ENST00000354961.4_Missense_Mutation_p.I445T|IL31RA_ENST00000359040.5_Missense_Mutation_p.I464T|IL31RA_ENST00000396836.2_Missense_Mutation_p.I464T	NM_001242638.1	NP_001229567.1	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	432	Fibronectin type-III 5.				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				GTGGAGAACATTGGCGTGAAG	0.483													5	51					0	0	1	0	0	C	55204129	T	C	55204129	3	2	201	1	0	0	0	0	1	0	0	0	7735	1493	52	3	1433	3	IL31RA	5	55204129	Missense_Mutation	SNP	T	TCGA-HC-8265-01A-11D-2260-08		55204129	125711131	18	9390											
UTP15	84135	broad.mit.edu	37	chr5	72866487	72866502	+	Frame_Shift_Del	DEL	AGTGGAGAGTGTCCTA	AGTGGAGAGTGTCCTA	-																															tccgttgagcatgggcagccAgtggagagtgtcctactttt																										TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr5:72866487_72866502delAGTGGAGAGTGTCCTA	ENST00000296792.4	+	6	879_894	c.624_639delAGTGGAGAGTGTCCTA	c.(622-639)ccfs	p.PVESVL208fs	UTP15_ENST00000508491.1_Frame_Shift_Del_p.PVESVL189fs|UTP15_ENST00000543251.1_Frame_Shift_Del_p.PVESVL18fs	NM_032175.2	NP_115551.2	Q8TED0	UTP15_HUMAN	UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae)	208					rRNA processing	cytoplasm|nucleolus				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	15		Lung NSC(167;0.00405)|Ovarian(174;0.0129)		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)		ATGGGCAGCCAGTGGAGAGTGTCCTACTTTTCCCCT	0.398													9	162	---	---	---	---						-	72866502	AGTGGAGAGTGTCCTA	-	72866487	7	5	201	1	0	1	0	1	0	0	0	0	17157	175	7	0	642	0	UTP15	5	72866487	Frame_Shift_Del	DEL	AGTGGAGAGTGTCCTA	TCGA-HC-8265-01A-11D-2260-08	17662358	72866487	108048773	19	9391											
SEMA6A	57556	broad.mit.edu	37	chr5	115813744	115813744	+	Frame_Shift_Del	DEL	G	G	-																															atatcgttcacaccggccaaGgggaacctttatcacacagg																										TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr5:115813744delG	ENST00000343348.6	-	14	2321	c.1534delC	c.(1534-1536)ttfs	p.L512fs	CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000282394.6_Frame_Shift_Del_p.L44fs|SEMA6A_ENST00000510263.1_Frame_Shift_Del_p.L512fs|CTB-118N6.3_ENST00000514214.1_RNA|CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000257414.8_Frame_Shift_Del_p.L512fs	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	512	Sema.				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		CACCGGCCAAGGGGAACCTTT	0.463													31	125	---	---	---	---						-	115813744	G	-	115813744	7	5	201	1	0	1	0	1	0	0	0	0	14093	1000	35	0	1582	0	SEMA6A	5	115813744	Frame_Shift_Del	DEL	G	TCGA-HC-8265-01A-11D-2260-08	42947257	115813744	65101516	20	9392											
DMXL1	1657	broad.mit.edu	37	chr5	118507503	118507504	+	Frame_Shift_Ins	INS	-	-	T																															accactattttctagccctcINStgtcagagcaaacctcagtg																										TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr5:118507503_118507504insT	ENST00000311085.8	+	25	6600_6601	c.6520_6521insT	c.(6520-6522)gtcfs	p.V2174fs	DMXL1_ENST00000539542.1_Frame_Shift_Ins_p.V2174fs	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2174										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TTCTAGCCCTCTGTCAGAGCAA	0.381													52	170	---	---	---	---						T	118507504	-	T	118507503	7	5	201	1	0	1	1	0	0	0	0	0	4622	912	32	0	6618	0	DMXL1	5	118507503	Frame_Shift_Ins	INS	-	TCGA-HC-8265-01A-11D-2260-08	2693759	118507503	62407757	21	9393											
KIF20A	10112	broad.mit.edu	37	chr5	137519025	137519025	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agactttgcggctatgcgagGatcaaaatggcaatccctat	12	10	10	9	2	1	1	1	0	0	1	2	3	2	2	1	3	2	2	1	3	5	3			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr5:137519025G>T	ENST00000394894.3	+	8	1226	c.1000G>T	c.(1000-1002)Gat>Tat	p.D334Y	KIF20A_ENST00000508792.1_Missense_Mutation_p.D316Y	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A	334	Kinesin-motor.				cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport	Golgi apparatus|microtubule|nucleoplasm	ATP binding|microtubule motor activity|protein binding|transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GCTATGCGAGGATCAAAATGG	0.488													14	53					1.3612e-06	1.53875e-06	1	1	0	T	137519025	G	T	137519025	3	4	201	1	0	0	0	0	1	0	0	0	8328	1174	41	4	1026	4	KIF20A	5	137519025	Missense_Mutation	SNP	G	TCGA-HC-8265-01A-11D-2260-08	19011522	137519025	43396235	22	9394											
RASGEF1C	255426	broad.mit.edu	37	chr5	179565029	179565029	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctggggtgaccatgtcGgaggcactcagcgtctgtgg	5	9	16	11	2	2	1	1	1	1	0	3	2	2	2	2	5	2	1	2	5	0	0			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr5:179565029G>A	ENST00000393371.2	-	1	320	c.24C>T	c.(22-24)tcC>tcT	p.S8S	RASGEF1C_ENST00000361132.4_Silent_p.S8S			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	8					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGACCATGTCGGAGGCACTCA	0.657													5	105					0	0	1	0	0	A	179565029	G	A	179565029	2	1	201	1	0	0	0	0	0	0	0	1	13123	1103	39	1		1	RASGEF1C	5	179565029	Silent	SNP	G	TCGA-HC-8265-01A-11D-2260-08	42046004	179565029	1350231	23	9395											
DSP	1832	broad.mit.edu	37	chr6	7575021	7575021	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agtggaagcttaccgctgtgGactgaaggtaacttgaaagc	12	9	13	7	1	0	2	0	2	0	0	0	4	0	4	1	3	4	3	1	3	5	3			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr6:7575021G>A	ENST00000379802.3	+	17	2770	c.2429G>A	c.(2428-2430)gGa>gAa	p.G810E	DSP_ENST00000418664.2_Missense_Mutation_p.G810E	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	810	Globular 1.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	p.G810E(1)		biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TACCGCTGTGGACTGAAGGTA	0.438													9	37					0	0	1	0	0	A	7575021	G	A	7575021	3	1	201	1	0	0	0	0	1	0	0	0	4807	1174	41	2	2495	2	DSP	6	7575021	Missense_Mutation	SNP	G	TCGA-HC-8265-01A-11D-2260-08		7575021	163540046	24	9396											
TBC1D7	51256	broad.mit.edu	37	chr6	13321294	13321294	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttacgatacatcatcaccTtggcatgggactcgtggtgt	8	12	10	11	2	2	0	2	0	0	0	3	2	2	1	2	3	2	1	2	3	2	3			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr6:13321294T>C	ENST00000607658.1	-	3	296	c.146A>G	c.(145-147)aAg>aGg	p.K49R	TBC1D7_ENST00000343141.4_Missense_Mutation_p.K76R|TBC1D7_ENST00000379300.3_Missense_Mutation_p.K76R|TBC1D7_ENST00000356436.4_Missense_Mutation_p.K76R|TBC1D7_ENST00000607532.1_5'UTR|TBC1D7_ENST00000379307.2_Missense_Mutation_p.K49R			Q9P0N9	TBCD7_HUMAN	TBC1 domain family, member 7	76					positive regulation of protein ubiquitination	cytoplasmic membrane-bounded vesicle	protein binding|Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)			CATCATCACCTTGGCATGGGA	0.463													17	257					0	0	1	0	0	C	13321294	T	C	13321294	3	2	201	1	0	0	0	0	1	0	0	0	15684	1609	56	3	674	3	TBC1D7	6	13321294	Missense_Mutation	SNP	T	TCGA-HC-8265-01A-11D-2260-08	5746273	13321294	157793773	25	9397											
ZNF311	282890	broad.mit.edu	37	chr6	28963131	28963131	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtgaggcttctctccagTgtgaattcttcgatgattgg	6	17	11	7	1	2	3	0	3	2	0	5	4	3	3	1	2	0	1	1	2	1	5	rs71732072		TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr6:28963131T>C	ENST00000377179.3	-	7	2160	c.1648A>G	c.(1648-1650)Act>Gct	p.T550A	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	550					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						TTCTCTCCAGTGTGAATTCTT	0.448													4	72					0	0	1	0	0	C	28963131	T	C	28963131	3	2	201	1	0	0	0	0	1	0	0	0	17891	1696	59	3	356	3	ZNF311	6	28963131	Missense_Mutation	SNP	T	TCGA-HC-8265-01A-11D-2260-08	15641837	28963131	142151936	26	9398											
OR2J2	26707	broad.mit.edu	37	chr6	29142063	29142063	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctctcattctcattctcacTacctatggtgccattgcccg	6	14	5	16	1	3	0	3	0	3	0	6	0	3	0	4	1	3	0	4	1	2	5			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr6:29142063T>A	ENST00000377167.2	+	1	753	c.651T>A	c.(649-651)acT>acA	p.T217T		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						TCATTCTCACTACCTATGGTG	0.468													6	70					0	0	1	0	0	A	29142063	T	A	29142063	2	1	201	1	0	0	0	0	0	0	0	1	11051	1509	53	5		5	OR2J2	6	29142063	Silent	SNP	T	TCGA-HC-8265-01A-11D-2260-08	178932	29142063	141973004	27	9399											
TDRD6	221400	broad.mit.edu	37	chr6	46660093	46660093	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcttgaccttgttaatgcaAtattgccggggttgtgcatt	7	15	12	7	1	0	1	0	1	0	0	0	1	0	1	2	3	3	5	2	3	3	7	rs74443068	byFrequency	TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr6:46660093A>T	ENST00000544460.1	+	1	4482	c.4228A>T	c.(4228-4230)Ata>Tta	p.I1410L	TDRD6_ENST00000316081.6_Missense_Mutation_p.I1410L	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1410	Tudor 6.				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TGTTAATGCAATATTGCCGGG	0.403													94	206					0	0	1	0	0	T	46660093	A	T	46660093	3	4	201	1	0	0	0	0	1	0	0	0	15793	101	4	5	4230	5	TDRD6	6	46660093	Missense_Mutation	SNP	A	TCGA-HC-8265-01A-11D-2260-08	17518030	46660093	124454974	28	9400											
GPR110	266977	broad.mit.edu	37	chr6	46991864	46991864	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgctccagccgtgtgaaggtAgcagttctggggatcaaggc	8	9	15	9	1	2	1	1	1	1	0	3	2	3	2	2	4	3	4	2	4	3	2			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr6:46991864A>G	ENST00000371253.2	-	5	582	c.367T>C	c.(367-369)Tac>Cac	p.Y123H	GPR110_ENST00000371243.2_Missense_Mutation_p.Y123H|GPR110_ENST00000449332.2_5'UTR	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	123					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						GTGTGAAGGTAGCAGTTCTGG	0.493													21	33					0	0	1	0	0	G	46991864	A	G	46991864	3	3	201	1	0	0	0	0	1	0	0	0	6667	420	15	3	2459	3	GPR110	6	46991864	Missense_Mutation	SNP	A	TCGA-HC-8265-01A-11D-2260-08	331771	46991864	124123203	29	9401											
FAM83B	222584	broad.mit.edu	37	chr6	54805205	54805205	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatatccgctttttgcaacAacgaatgccaacccttgaac	12	10	5	14	2	0	1	0	1	0	0	1	2	1	1	4	0	6	2	4	0	6	4			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr6:54805205A>T	ENST00000306858.7	+	5	1552	c.1436A>T	c.(1435-1437)cAa>cTa	p.Q479L		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	479										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TTTTTGCAACAACGAATGCCA	0.403													4	111					0	0	1	0	0	T	54805205	A	T	54805205	3	4	201	1	0	0	0	0	1	0	0	0	5666	130	5	5	1450	5	FAM83B	6	54805205	Missense_Mutation	SNP	A	TCGA-HC-8265-01A-11D-2260-08	7813341	54805205	116309862	30	9402											
IMPG1	3617	broad.mit.edu	37	chr6	76660739	76660739	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatcagtcagagagaagatgCttgatgccataaagaaaggt	16	8	12	5	0	2	5	2	1	0	4	2	7	2	5	1	1	2	1	1	1	4	2			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr6:76660739C>T	ENST00000369950.3	-	13	1553	c.1364G>A	c.(1363-1365)aGc>aAc	p.S455N	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	455					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				AGAGAAGATGCTTGATGCCAT	0.483													3	63					0	0	1	0	0	T	76660739	C	T	76660739	3	4	201	1	0	0	0	0	1	0	0	0	7772	797	28	2	1049	2	IMPG1	6	76660739	Missense_Mutation	SNP	C	TCGA-HC-8265-01A-11D-2260-08	21855534	76660739	94454328	31	9403											
MDN1	23195	broad.mit.edu	37	chr6	90363906	90363906	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agggtgctgtggtgcccgacTtgatttcctctggcttcagc	4	13	13	11	1	2	1	1	1	1	0	3	2	3	1	2	3	3	2	2	3	0	3			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr6:90363906T>C	ENST00000369393.3	-	93	15753	c.15638A>G	c.(15637-15639)aAg>aGg	p.K5213R	MDN1_ENST00000428876.1_Missense_Mutation_p.K5213R			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	5213					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GGTGCCCGACTTGATTTCCTC	0.522													46	103					0	0	1	0	0	C	90363906	T	C	90363906	3	2	201	1	0	0	0	0	1	0	0	0	9465	1609	56	3	1192	3	MDN1	6	90363906	Missense_Mutation	SNP	T	TCGA-HC-8265-01A-11D-2260-08	13703167	90363906	80751161	32	9404											
SNX13	23161	broad.mit.edu	37	chr7	17885263	17885263	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctacaagaatgctgtccaGggggactgtgcaaagtttcc	10	10	12	9	0	1	1	0	0	1	1	3	2	3	2	2	2	3	3	2	2	4	2			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr7:17885263G>A	ENST00000409389.1	-	12	1292	c.1120C>T	c.(1120-1122)Ctg>Ttg	p.L374L	SNX13_ENST00000428135.3_Silent_p.L374L			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	374	RGS.				cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					ATGCTGTCCAGGGGGACTGTG	0.323													4	12					0	0	1	0	0	A	17885263	G	A	17885263	2	1	201	1	0	0	0	0	0	0	0	1	14938	991	35	2		2	SNX13	7	17885263	Silent	SNP	G	TCGA-HC-8265-01A-11D-2260-08		17885263	141253400	33	9405											
PCLO	27445	broad.mit.edu	37	chr7	82545752	82545752	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttggtcgctcaatgccatgCtgactttctattcgggttgg	5	15	11	10	2	2	1	1	1	1	0	4	1	2	1	1	3	2	3	1	3	2	5			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr7:82545752C>T	ENST00000423517.2	-	7	11887	c.11550G>A	c.(11548-11550)caG>caA	p.Q3850Q	PCLO_ENST00000437081.1_Silent_p.Q570Q|PCLO_ENST00000333891.8_Silent_p.Q3850Q	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3781	Gln-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						CAATGCCATGCTGACTTTCTA	0.473													14	293					0	0	1	0	0	T	82545752	C	T	82545752	2	4	201	1	0	0	0	0	0	0	0	1	11630	796	28	2		2	PCLO	7	82545752	Silent	SNP	C	TCGA-HC-8265-01A-11D-2260-08	64660489	82545752	76592911	34	9406											
MGAM	8972	broad.mit.edu	37	chr7	141765240	141765240	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggagacaacacggccgcAtgggatcagctgaagaagtc	12	5	14	10	2	1	3	1	1	0	2	2	5	1	4	1	3	2	2	1	3	3	0			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr7:141765240A>G	ENST00000475668.2	+	38	4644	c.4590A>G	c.(4588-4590)gcA>gcG	p.A1530A	MGAM_ENST00000549489.2_Silent_p.A1530A			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1530	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ACACGGCCGCATGGGATCAGC	0.612													2	13					0	0	1	0	0	G	141765240	A	G	141765240	2	3	201	1	0	0	0	0	0	0	0	1	9591	204	8	3		3	MGAM	7	141765240	Silent	SNP	A	TCGA-HC-8265-01A-11D-2260-08	59219488	141765240	17373423	35	9407											
ZNF282	8427	broad.mit.edu	37	chr7	148921395	148921395	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgagaagagcttcaactgcCactcgggcctcatccgccac	9	6	10	16	3	2	2	2	0	0	2	4	3	3	2	4	1	3	1	4	1	2	1			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr7:148921395C>T	ENST00000262085.3	+	8	1777	c.1672C>T	c.(1672-1674)Cac>Tac	p.H558Y	ZNF282_ENST00000479907.1_3'UTR	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	558					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		CTTCAACTGCCACTCGGGCCT	0.632													6	29					0	0	1	0	0	T	148921395	C	T	148921395	3	4	201	1	0	0	0	0	1	0	0	0	17877	594	21	2	1702	2	ZNF282	7	148921395	Missense_Mutation	SNP	C	TCGA-HC-8265-01A-11D-2260-08	7156155	148921395	10217268	36	9408											
TMEM176A	55365	broad.mit.edu	37	chr7	150500789	150500789	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttggaatgaagatttccgaTatggctactcttattacaac	12	15	7	7	1	1	2	0	1	1	1	2	4	2	3	1	2	3	1	1	2	7	6			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr7:150500789T>C	ENST00000484928.1	+	5	1005	c.424T>C	c.(424-426)Tat>Cat	p.Y142H	TMEM176A_ENST00000461345.1_Missense_Mutation_p.Y83H|TMEM176A_ENST00000004103.3_Missense_Mutation_p.Y142H			Q96HP8	T176A_HUMAN	transmembrane protein 176A	142						integral to membrane				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGATTTCCGATATGGCTACTC	0.552													8	130					0	0	1	0	0	C	150500789	T	C	150500789	3	2	201	1	0	0	0	0	1	0	0	0	16152	1406	49	3	438	3	TMEM176A	7	150500789	Missense_Mutation	SNP	T	TCGA-HC-8265-01A-11D-2260-08	1579394	150500789	8637874	37	9409											
POLR3D	661	broad.mit.edu	37	chr8	22105704	22105704	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggatgtgtcagacatgggAccttctcatatcatcaacat	11	12	9	9	0	4	1	4	0	1	1	5	3	4	3	1	2	1	0	1	2	2	2			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr8:22105704A>G	ENST00000397802.4	+	4	614	c.399A>G	c.(397-399)ggA>ggG	p.G133G	POLR3D_ENST00000306433.4_Silent_p.G133G			P05423	RPC4_HUMAN	polymerase (RNA) III (DNA directed) polypeptide D, 44kDa	133					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		CAGACATGGGACCTTCTCATA	0.468													7	34					0	0	1	0	0	G	22105704	A	G	22105704	2	3	201	1	0	0	0	0	0	0	0	1	12279	262	10	3		3	POLR3D	8	22105704	Silent	SNP	A	TCGA-HC-8265-01A-11D-2260-08		22105704	124258318	38	9410											
TCEA1	6917	broad.mit.edu	37	chr8	54900745	54900745	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcagaagtgcttggtgccCgaggaaaggatgaaacataa	16	7	12	6	1	1	2	1	1	0	1	1	5	1	4	1	3	3	1	1	3	5	2			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr8:54900745C>T	ENST00000521604.2	-	5	798	c.395G>A	c.(394-396)cGg>cAg	p.R132Q	TCEA1_ENST00000396401.3_Missense_Mutation_p.R111Q|TCEA1_ENST00000521086.2_5'UTR|TCEA1_ENST00000522635.1_Intron	NM_006756.2	NP_006747.1	P23193	TCEA1_HUMAN	transcription elongation factor A (SII), 1	132					positive regulation of viral transcription|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	nucleoplasm	DNA binding|translation elongation factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;9.1e-07)|Epithelial(17;9.44e-05)|all cancers(17;0.000699)			GCTTGGTGCCCGAGGAAAGGA	0.468			T	PLAG1	salivary adenoma								7	22					0	0	1	0	0	T	54900745	C	T	54900745	3	4	201	1	0	0	0	0	1	0	0	0	15727	652	23	1	534	1	TCEA1	8	54900745	Missense_Mutation	SNP	C	TCGA-HC-8265-01A-11D-2260-08	32795041	54900745	91463277	39	9411											
GDAP1	54332	broad.mit.edu	37	chr8	75276269	75276269	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatccttcaccctggcagaCgtctcactcgctgtcacatt	8	11	7	15	2	3	1	3	0	1	1	6	2	4	1	2	1	0	2	2	1	1	2			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr8:75276269C>T	ENST00000220822.7	+	6	824	c.744C>T	c.(742-744)gaC>gaT	p.D248D	GDAP1_ENST00000521096.1_3'UTR|GDAP1_ENST00000434412.2_Silent_p.D180D	NM_001040875.2|NM_018972.2	NP_001035808.1|NP_061845.2	Q8TB36	GDAP1_HUMAN	ganglioside induced differentiation associated protein 1	248	GST C-terminal.					cytoplasm				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			CCCTGGCAGACGTCTCACTCG	0.502													4	38					0	0	1	0	0	T	75276269	C	T	75276269	2	4	201	1	0	0	0	0	0	0	0	1	6348	535	19	1		1	GDAP1	8	75276269	Silent	SNP	C	TCGA-HC-8265-01A-11D-2260-08	20375524	75276269	71087753	40	9412											
ZFHX4	79776	broad.mit.edu	37	chr8	77775621	77775621	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaagaggaaaaaatctcatCtgctctttcagtgttgggca	14	11	9	7	0	4	1	2	0	3	1	5	2	4	2	0	2	1	3	0	2	5	2			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr8:77775621C>G	ENST00000521891.2	+	11	10119	c.9671C>G	c.(9670-9672)tCt>tGt	p.S3224C	ZFHX4_ENST00000518282.1_Missense_Mutation_p.S3198C|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S3175C|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S3179C	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3175						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAAATCTCATCTGCTCTTTCA	0.413										HNSCC(33;0.089)			3	88					0	0	1	0	0	G	77775621	C	G	77775621	3	3	201	1	0	0	0	0	1	0	0	0	17693	913	32	4	9709	4	ZFHX4	8	77775621	Missense_Mutation	SNP	C	TCGA-HC-8265-01A-11D-2260-08	2499352	77775621	68588401	41	9413											
CHRAC1	54108	broad.mit.edu	37	chr8	141525311	141525311	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagatgaggagaatgacaatGataatgaaagtgaccatgat	19	8	11	3	0	0	8	0	6	0	2	0	9	0	8	1	1	0	0	1	1	5	1			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr8:141525311G>C	ENST00000220913.5	+	3	563	c.361G>C	c.(361-363)Gat>Cat	p.D121H	CHRAC1_ENST00000519533.1_3'UTR	NM_017444.5	NP_059140.1	Q9NRG0	CHRC1_HUMAN	chromatin accessibility complex 1	121					chromatin remodeling	chromatin accessibility complex|epsilon DNA polymerase complex	DNA-directed DNA polymerase activity|sequence-specific DNA binding			ovary(2)	2	all_cancers(97;5.52e-16)|all_epithelial(106;1.22e-13)|Lung NSC(106;4.09e-06)|all_lung(105;6e-06)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.107)			GAATGACAATGATAATGAAAG	0.383													7	67					0	0	1	0	0	C	141525311	G	C	141525311	3	2	201	1	0	0	0	0	1	0	0	0	3393	1290	45	4	371	4	CHRAC1	8	141525311	Missense_Mutation	SNP	G	TCGA-HC-8265-01A-11D-2260-08	63749690	141525311	4838711	42	9414											
MLLT3	4300	broad.mit.edu	37	chr9	20414337	20414337	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgctgctgctgctgctGctgctactgctgctgctgct	1	14	12	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	12	0	0	1	1			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr9:20414337G>A	ENST00000380338.4	-	5	793	c.507C>T	c.(505-507)agC>agT	p.S169S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S166S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	169	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctgctactgc	0.542			T	MLL	ALL								3	40					0	0	1	0	0	A	20414337	G	A	20414337	2	1	201	1	0	0	0	0	0	0	0	1	9676	1310	46	2		2	MLLT3	9	20414337	Silent	SNP	G	TCGA-HC-8265-01A-11D-2260-08		20414337	120799094	43	9415											
TMC1	117531	broad.mit.edu	37	chr9	75445550	75445550	+	Missense_Mutation	SNP	G	G	C																															tattttttattgtgtagcaaGctttggagaacaaaatgcga																										TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr9:75445550G>C	ENST00000297784.5	+	23	2752	c.2212G>C	c.(2212-2214)Gct>Cct	p.A738P	TMC1_ENST00000340019.3_Missense_Mutation_p.A738P|TMC1_ENST00000486417.1_3'UTR|TMC1_ENST00000396237.3_Missense_Mutation_p.A738P	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	738					sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						TGTGTAGCAAGCTTTGGAGAA	0.303													6	15					0	0	1	0	0	C	75445550	G	C	75445550	3	2	201	1	0	0	0	0	1	0	0	0	16044	971	34	4	2286	4	TMC1	9	75445550	Missense_Mutation	SNP	G	TCGA-HC-8265-01A-11D-2260-08	55031213	75445550	65767881	44	9416	49	2									
TMC1	117531	broad.mit.edu	37	chr9	75445552	75445552	+	Silent	SNP	T	T	G																															ttttttattgtgtagcaagcTttggagaacaaaatgcgaaa																								rs111387206		TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr9:75445552T>G	ENST00000297784.5	+	23	2754	c.2214T>G	c.(2212-2214)gcT>gcG	p.A738A	TMC1_ENST00000340019.3_Silent_p.A738A|TMC1_ENST00000486417.1_3'UTR|TMC1_ENST00000396237.3_Silent_p.A738A	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	738					sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						TGTAGCAAGCTTTGGAGAACA	0.299													6	15					0	0	1	0	0	G	75445552	T	G	75445552	2	3	201	1	0	0	0	0	0	0	0	1	16044	1596	56	5		5	TMC1	9	75445552	Silent	SNP	T	TCGA-HC-8265-01A-11D-2260-08	2	75445552	65767879	45	9417	49	2									
ARPC5L	81873	broad.mit.edu	37	chr9	127637421	127637421	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcgcagtgttactccagtgGcacgaaaaggtatgtgaacg	12	8	13	8	3	0	1	0	1	0	0	1	2	1	1	1	2	3	4	1	2	5	2			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr9:127637421G>C	ENST00000353214.2	+	5	1642	c.390G>C	c.(388-390)tgG>tgC	p.W130C	ARPC5L_ENST00000259477.6_Missense_Mutation_p.W130C|ARPC5L_ENST00000465124.1_3'UTR			Q9BPX5	ARP5L_HUMAN	actin related protein 2/3 complex, subunit 5-like	130					regulation of actin filament polymerization	cytoplasm|cytoskeleton	actin binding			large_intestine(2)|lung(1)	3						TACTCCAGTGGCACGAAAAGG	0.507													8	48					0	0	1	0	0	C	127637421	G	C	127637421	3	2	201	1	0	0	0	0	1	0	0	0	974	1212	42	4	400	4	ARPC5L	9	127637421	Missense_Mutation	SNP	G	TCGA-HC-8265-01A-11D-2260-08	52191869	127637421	13576010	46	9418											
SLC2A8	29988	broad.mit.edu	37	chr9	130167705	130167705	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctcgctcccacaggctttgCggtgggctgggggcccatcc	3	9	14	15	2	1	0	0	0	1	0	4	0	3	0	3	5	1	3	3	5	0	1			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr9:130167705C>T	ENST00000373371.3	+	9	1246	c.1157C>T	c.(1156-1158)gCg>gTg	p.A386V	SLC2A8_ENST00000373352.1_Missense_Mutation_p.A123V|SLC2A8_ENST00000373360.3_Intron|SLC2A8_ENST00000485806.1_3'UTR	NM_001271712.1|NM_014580.3	NP_001258641.1|NP_055395.2	Q9NY64	GTR8_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 8	386						cytoplasmic vesicle membrane|integral to plasma membrane	D-glucose transmembrane transporter activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	11						ACAGGCTTTGCGGTGGGCTGG	0.642													3	62					0	0	1	0	0	T	130167705	C	T	130167705	3	4	201	1	0	0	0	0	1	0	0	0	14606	768	27	1	1191	1	SLC2A8	9	130167705	Missense_Mutation	SNP	C	TCGA-HC-8265-01A-11D-2260-08	2530284	130167705	11045726	47	9419											
PCDH15	65217	broad.mit.edu	37	chr10	55566503	55566503	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttcagcctgttccttagtgGcttcaccgctgtattgtcag	5	16	9	11	1	3	0	3	0	0	0	4	0	4	0	3	1	1	4	3	1	2	6			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr10:55566503G>T	ENST00000373965.2	-	36	5285	c.4891C>A	c.(4891-4893)Cca>Aca	p.P1631T	PCDH15_ENST00000414778.1_Missense_Mutation_p.P1628T	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTCCTTAGTGGCTTCACCGCT	0.448										HNSCC(58;0.16)			87	196					2.18537e-64	2.58271e-64	1	1	0	T	55566503	G	T	55566503	3	4	201	1	0	0	0	0	1	0	0	0	11558	1203	42	4	167	4	PCDH15	10	55566503	Missense_Mutation	SNP	G	TCGA-HC-8265-01A-11D-2260-08		55566503	79968244	48	9420											
DDIT4	54541	broad.mit.edu	37	chr10	74034783	74034783	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccagctgaccctcgtgcTgcgcctggactcacgactct	5	10	9	17	3	2	1	1	1	1	0	4	3	3	2	3	1	3	2	3	1	0	1			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr10:74034783T>A	ENST00000307365.3	+	3	737	c.536T>A	c.(535-537)cTg>cAg	p.L179Q	RP11-442H21.2_ENST00000491934.2_RNA	NM_019058.2	NP_061931.1	Q9NX09	DDIT4_HUMAN	DNA-damage-inducible transcript 4	179					apoptosis					cervix(1)|endometrium(2)|lung(5)|pancreas(1)|prostate(2)|urinary_tract(1)	12						ACCCTCGTGCTGCGCCTGGAC	0.657											OREG0020262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	31					0	0	1	0	0	A	74034783	T	A	74034783	3	1	201	1	0	0	0	0	1	0	0	0	4354	1580	55	5	542	5	DDIT4	10	74034783	Missense_Mutation	SNP	T	TCGA-HC-8265-01A-11D-2260-08	18468280	74034783	61499964	49	9421											
DLG5	9231	broad.mit.edu	37	chr10	79571786	79571786	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagccgcgcctgctgctcCgtggcgctccgcaggtttat	4	10	13	14	5	0	1	0	1	0	0	2	1	2	1	4	2	3	5	4	2	1	2			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr10:79571786C>T	ENST00000372391.2	-	22	4223	c.4218G>A	c.(4216-4218)acG>acA	p.T1406T	DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Silent_p.T1066T	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1406	PDZ 3.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CCTGCTGCTCCGTGGCGCTCC	0.652													6	105					0	0	1	0	0	T	79571786	C	T	79571786	2	4	201	1	0	0	0	0	0	0	0	1	4586	639	23	1		1	DLG5	10	79571786	Silent	SNP	C	TCGA-HC-8265-01A-11D-2260-08	5537003	79571786	55962961	50	9422											
MRVI1	10335	broad.mit.edu	37	chr11	10647847	10647847	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catcctgggttggacttctcGgcagagggctgccctcccag	5	9	13	14	1	1	1	0	0	1	1	4	2	3	2	3	4	1	3	3	4	0	2			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr11:10647847G>A	ENST00000547195.1	-	8	1261	c.761C>T	c.(760-762)cCg>cTg	p.P254L	MRVI1_ENST00000534266.2_Missense_Mutation_p.P30L|MRVI1_ENST00000552103.1_Missense_Mutation_p.P254L|MRVI1_ENST00000545852.1_Missense_Mutation_p.P30L|MRVI1_ENST00000541483.1_Intron|MRVI1_ENST00000421747.1_Missense_Mutation_p.P336L|MRVI1_ENST00000531107.1_Missense_Mutation_p.P337L|MRVI1_ENST00000423302.2_Missense_Mutation_p.P345L|MRVI1_ENST00000424001.1_Missense_Mutation_p.P30L|MRVI1_ENST00000558540.1_Missense_Mutation_p.P30L|MRVI1_ENST00000527509.2_Missense_Mutation_p.P254L|MRVI1_ENST00000436272.1_Missense_Mutation_p.P318L	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	318					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TGGACTTCTCGGCAGAGGGCT	0.672													7	12					0	0	1	0	0	A	10647847	G	A	10647847	3	1	201	1	0	0	0	0	1	0	0	0	9902	1116	39	1	1756	1	MRVI1	11	10647847	Missense_Mutation	SNP	G	TCGA-HC-8265-01A-11D-2260-08		10647847	124358669	51	9423											
OR4C3	256144	broad.mit.edu	37	chr11	48346690	48346690	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgtggtcacggtttgtggCaacatgctcattgtggtcac	7	14	12	8	1	3	0	3	0	0	0	3	0	3	0	0	4	2	3	0	4	2	3			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr11:48346690C>A	ENST00000319856.4	+	1	219	c.198C>A	c.(196-198)ggC>ggA	p.G66G		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	39					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						CGGTTTGTGGCAACATGCTCA	0.453													3	67					2.0095e-06	2.24718e-06	1	1	0	A	48346690	C	A	48346690	2	1	201	1	0	0	0	0	0	0	0	1	11098	697	25	4		4	OR4C3	11	48346690	Silent	SNP	C	TCGA-HC-8265-01A-11D-2260-08	37698843	48346690	86659826	52	9424											
DDI1	414301	broad.mit.edu	37	chr11	103907873	103907873	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgggacgtccagctcccGtccacagcaccctggacagc	7	5	11	18	2	0	0	0	0	0	0	3	2	3	2	5	2	3	2	5	2	0	0	rs138983347		TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr11:103907873G>A	ENST00000302259.3	+	1	566	c.323G>A	c.(322-324)cGt>cAt	p.R108H	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	108					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		TCCAGCTCCCGTCCACAGCAC	0.672													31	67					0	0	1	0	0	A	103907873	G	A	103907873	3	1	201	1	0	0	0	0	1	0	0	0	4351	1145	40	1	325	1	DDI1	11	103907873	Missense_Mutation	SNP	G	TCGA-HC-8265-01A-11D-2260-08	55561183	103907873	31098643	53	9425											
CACNA1C	775	broad.mit.edu	37	chr12	2764406	2764406	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgctgctcctcttcaggTgggtccctgaagacataggt	6	11	12	12	1	2	2	1	1	1	1	4	2	4	2	3	3	2	2	3	3	2	2			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr12:2764406T>G	ENST00000399655.1	+	34	4497		c.e34+2		CACNA1C_ENST00000399606.1_Splice_Site|CACNA1C_ENST00000399637.1_Splice_Site|CACNA1C_ENST00000399591.1_Splice_Site|CACNA1C_ENST00000402845.3_Splice_Site|CACNA1C_ENST00000399597.1_Splice_Site|CACNA1C_ENST00000399629.1_Splice_Site|CACNA1C_ENST00000399601.1_Splice_Site|CACNA1C_ENST00000347598.4_Splice_Site|CACNA1C_ENST00000399621.1_Splice_Site|CACNA1C_ENST00000327702.7_Splice_Site|CACNA1C_ENST00000399641.1_Splice_Site|CACNA1C_ENST00000399595.1_Splice_Site|CACNA1C_ENST00000406454.3_Splice_Site|CACNA1C_ENST00000399644.1_Splice_Site|CACNA1C_ENST00000335762.5_Splice_Site|CACNA1C_ENST00000399617.1_Splice_Site|CACNA1C_ENST00000399649.1_Splice_Site|CACNA1C_ENST00000399634.1_Splice_Site|CACNA1C_ENST00000399638.1_Splice_Site|CACNA1C_ENST00000399603.1_Splice_Site|CACNA1C_ENST00000344100.3_Splice_Site	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit						axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CCTCTTCAGGTGGGTCCCTGA	0.537													2	13					0	0	1	0	0	G	2764406	T	G	2764406	5	3	201	1	0	0	0	0	0	0	1	0	2558	1710	59	5	4694	5	CACNA1C	12	2764406	Splice_Site	SNP	T	TCGA-HC-8265-01A-11D-2260-08		2764406	131087489	54	9426											
ADAMTS20	80070	broad.mit.edu	37	chr12	43896163	43896163	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cattaagatcttcattcatgTtgctgtaggtatgaaagggt	11	15	10	5	0	3	2	2	1	1	1	3	2	3	2	0	2	1	4	0	2	4	6			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr12:43896163T>C	ENST00000389420.3	-	4	658	c.659A>G	c.(658-660)aAc>aGc	p.N220S	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.N220S	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	220						proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TTCATTCATGTTGCTGTAGGT	0.323													6	60					0	0	1	0	0	C	43896163	T	C	43896163	3	2	201	1	0	0	0	0	1	0	0	0	265	1725	60	3	5216	3	ADAMTS20	12	43896163	Missense_Mutation	SNP	T	TCGA-HC-8265-01A-11D-2260-08	41131757	43896163	89955732	55	9427											
C1QL4	338761	broad.mit.edu	37	chr12	49729849	49729849	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgctggctgcctcgtaggCgttgcccacgttggtcacca	4	9	13	15	4	1	0	1	0	0	0	2	0	1	0	4	3	2	5	4	3	1	3			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr12:49729849C>T	ENST00000334221.3	-	1	1122	c.412G>A	c.(412-414)Gcc>Acc	p.A138T		NM_001008223.1	NP_001008224.1	Q86Z23	C1QL4_HUMAN	complement component 1, q subcomponent-like 4	138	C1q.					collagen				large_intestine(2)|lung(1)|ovary(1)|skin(1)	5						GCCTCGTAGGCGTTGCCCACG	0.652													10	14					0	0	1	0	0	T	49729849	C	T	49729849	3	4	201	1	0	0	0	0	1	0	0	0	1974	768	27	1	312	1	C1QL4	12	49729849	Missense_Mutation	SNP	C	TCGA-HC-8265-01A-11D-2260-08	5833686	49729849	84122046	56	9428											
R3HDM2	22864	broad.mit.edu	37	chr12	57674222	57674222	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttgctgctgctgctgctgCtgttgctgctgggcagtaca	4	13	14	10	0	0	0	0	0	0	0	0	0	0	0	0	1	9	12	0	1	1	3			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr12:57674222C>T	ENST00000402412.1	-	14	1653	c.1263G>A	c.(1261-1263)caG>caA	p.Q421Q	R3HDM2_ENST00000441731.2_Silent_p.Q68Q|R3HDM2_ENST00000358907.2_Silent_p.Q407Q|R3HDM2_ENST00000403821.2_Silent_p.Q407Q|RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000393811.2_Silent_p.Q134Q|R3HDM2_ENST00000413953.2_Silent_p.Q134Q|R3HDM2_ENST00000347140.3_Silent_p.Q407Q			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	407	Gln-rich.					nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						gctgctgctgctgttgctgct	0.567													3	73					0	0	1	0	0	T	57674222	C	T	57674222	2	4	201	1	0	0	0	0	0	0	0	1	12940	796	28	2		2	R3HDM2	12	57674222	Silent	SNP	C	TCGA-HC-8265-01A-11D-2260-08	7944373	57674222	76177673	57	9429											
CYSLTR2	57105	broad.mit.edu	37	chr13	49281344	49281344	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtatttatttcctgaccGtgctgagtgttgtgcgtttc	5	17	11	8	2	0	2	0	2	0	0	2	2	1	2	2	0	2	5	2	0	2	6			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr13:49281344G>C	ENST00000282018.3	+	1	394	c.391G>C	c.(391-393)Gtg>Ctg	p.V131L		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	131					immune response	integral to membrane|plasma membrane				endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	TTTCCTGACCGTGCTGAGTGT	0.468													48	149					0	0	1	0	0	C	49281344	G	C	49281344	3	2	201	1	0	0	0	0	1	0	0	0	4225	1145	40	4	393	4	CYSLTR2	13	49281344	Missense_Mutation	SNP	G	TCGA-HC-8265-01A-11D-2260-08		49281344	65888534	58	9430											
MYH7	4625	broad.mit.edu	37	chr14	23887594	23887594	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgccgggccgactgcagtgCgtgggccagggcgttcttcg	4	8	17	12	5	1	0	0	0	1	0	2	1	1	0	3	3	3	2	3	3	0	2			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr14:23887594C>T	ENST00000355349.3	-	30	4156	c.3994G>A	c.(3994-3996)Gca>Aca	p.A1332T		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1332					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GACTGCAGTGCGTGGGCCAGG	0.657													5	38					0	0	1	0	0	T	23887594	C	T	23887594	3	4	201	1	0	0	0	0	1	0	0	0	10087	768	27	1	1857	1	MYH7	14	23887594	Missense_Mutation	SNP	C	TCGA-HC-8265-01A-11D-2260-08		23887594	83461946	59	9431											
FOXA1	3169	broad.mit.edu	37	chr14	38061243	38061243	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcgaacatgttgccggagTccgggtgcagcgtccagtag	7	9	14	11	4	1	0	0	0	1	0	4	2	3	1	3	2	4	3	3	2	2	2			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr14:38061243T>A	ENST00000250448.2	-	2	807	c.746A>T	c.(745-747)gAc>gTc	p.D249V	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Missense_Mutation_p.D216V	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	249					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		GTTGCCGGAGTCCGGGTGCAG	0.667													13	21					0	0	1	0	0	A	38061243	T	A	38061243	3	1	201	1	0	0	0	0	1	0	0	0	6022	1667	58	5	676	5	FOXA1	14	38061243	Missense_Mutation	SNP	T	TCGA-HC-8265-01A-11D-2260-08	14173649	38061243	69288297	60	9432											
TXNDC16	57544	broad.mit.edu	37	chr14	52957171	52957171	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttcacttccaaagagtcccTttttcaaaatggaaataaat	15	13	5	8	0	2	1	2	0	0	1	4	2	4	2	2	1	0	1	2	1	6	5			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr14:52957171T>C	ENST00000281741.4	-	11	1295		c.e11-2		TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16						cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					AAAGAGTCCCTTTTTCAAAAT	0.303													2	21					0	0	1	0	0	C	52957171	T	C	52957171	5	2	201	1	0	0	0	0	0	0	1	0	16857	1623	56	3	1599	3	TXNDC16	14	52957171	Splice_Site	SNP	T	TCGA-HC-8265-01A-11D-2260-08	14895928	52957171	54392369	61	9433											
SYNE2	23224	broad.mit.edu	37	chr14	64532245	64532245	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgcacagaaaatgatggCatatgtttgctcaagattgt	13	12	11	5	0	1	3	1	1	0	2	1	3	1	3	0	2	2	4	0	2	4	3			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr14:64532245C>G	ENST00000358025.3	+	51	10538	c.10308C>G	c.(10306-10308)ggC>ggG	p.G3436G	SYNE2_ENST00000555002.1_Silent_p.G70G|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Silent_p.G3436G|SYNE2_ENST00000554584.1_Silent_p.G3469G	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3436					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAAATGATGGCATATGTTTGC	0.443													5	51					0	0	1	0	0	G	64532245	C	G	64532245	2	3	201	1	0	0	0	0	0	0	0	1	15503	697	25	4		4	SYNE2	14	64532245	Silent	SNP	C	TCGA-HC-8265-01A-11D-2260-08	11575074	64532245	42817295	62	9434											
YLPM1	56252	broad.mit.edu	37	chr14	75264385	75264385	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccccgatgggccaagaccCagatatgaaggtcacccagc	11	4	11	15	2	1	3	1	1	0	2	1	4	1	3	5	2	1	0	5	2	3	1			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr14:75264385C>T	ENST00000325680.7	+	5	2509	c.2385C>T	c.(2383-2385)ccC>ccT	p.P795P	YLPM1_ENST00000238571.3_Silent_p.P600P|YLPM1_ENST00000552421.1_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	600					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GGCCAAGACCCAGATATGAAG	0.512													3	8					0	0	1	0	0	T	75264385	C	T	75264385	2	4	201	1	0	0	0	0	0	0	0	1	17546	581	21	2		2	YLPM1	14	75264385	Silent	SNP	C	TCGA-HC-8265-01A-11D-2260-08	10732140	75264385	32085155	63	9435											
TRPM1	4308	broad.mit.edu	37	chr15	31359360	31359360	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggacttggaggagtggtctTtcaaggcatcccctacgtgg	7	11	14	9	1	2	0	1	0	1	0	3	3	3	3	2	6	1	1	2	6	2	3			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr15:31359360T>C	ENST00000542188.1	-	5	888	c.575A>G	c.(574-576)aAa>aGa	p.K192R	TRPM1_ENST00000256552.6_Missense_Mutation_p.K175R|TRPM1_ENST00000397795.2_Missense_Mutation_p.K153R	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	153					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GGAGTGGTCTTTCAAGGCATC	0.478													3	86					0	0	1	0	0	C	31359360	T	C	31359360	3	2	201	1	0	0	0	0	1	0	0	0	16646	1841	64	3	4445	3	TRPM1	15	31359360	Missense_Mutation	SNP	T	TCGA-HC-8265-01A-11D-2260-08		31359360	71172032	64	9436											
B2M	567	broad.mit.edu	37	chr15	45003696	45003696	+	Translation_Start_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgcgtttaatataagtggAggcgtcgcgctggcgggcat	8	9	15	9	6	0	0	0	0	0	0	1	1	0	1	0	4	0	3	0	4	3	4			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr15:45003696A>T	ENST00000558401.1	+	0	22					NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin						antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	early endosome membrane|Golgi membrane|MHC class I protein complex	protein binding			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		ATATAAGTGGAGGCGTCGCGC	0.612													4	30					0	0	1	0	0	T	45003696	A	T	45003696	1	4	201	1	0	0	0	0	0	0	0	0	1242	319	11	5		5	B2M	15	45003696	Translation_Start_Site	SNP	A	TCGA-HC-8265-01A-11D-2260-08	13644336	45003696	57527696	65	9437											
CACNA1H	8912	broad.mit.edu	37	chr16	1270653	1270653	+	Frame_Shift_Del	DEL	G	G	-																															ccacagagggctcaggcgccGggggggaccctgcagccaag																										TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr16:1270653delG	ENST00000348261.5	+	35	6969	c.6721delG	c.(6721-6723)ggfs	p.G2242fs	CACNA1H_ENST00000565831.1_Frame_Shift_Del_p.G2236fs|CACNA1H_ENST00000358590.4_Frame_Shift_Del_p.G2236fs	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	2242					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CTCAGGCGCCGGGGGGGACCC	0.731													2	4	---	---	---	---						-	1270653	G	-	1270653	7	5	201	1	0	1	0	1	0	0	0	0	2563	1116	39	0	6855	0	CACNA1H	16	1270653	Frame_Shift_Del	DEL	G	TCGA-HC-8265-01A-11D-2260-08		1270653	89084100	66	9438											
KIAA0513	9764	broad.mit.edu	37	chr16	85111074	85111074	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagtcccgggagaagcccgcGggcagcatcgactcctacct	8	5	13	15	4	0	1	0	0	0	1	3	4	2	1	4	2	3	2	4	2	2	1			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr16:85111074G>A	ENST00000566428.1	+	6	1249	c.618G>A	c.(616-618)gcG>gcA	p.A206A	KIAA0513_ENST00000258180.3_Silent_p.A206A|KIAA0513_ENST00000567328.1_Silent_p.A206A|KIAA0513_ENST00000538274.1_Silent_p.A206A			O60268	K0513_HUMAN	KIAA0513	206						cytoplasm				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		AGAAGCCCGCGGGCAGCATCG	0.612													10	23					0	0	1	0	0	A	85111074	G	A	85111074	2	1	201	1	0	0	0	0	0	0	0	1	8223	1103	39	1		1	KIAA0513	16	85111074	Silent	SNP	G	TCGA-HC-8265-01A-11D-2260-08	83840421	85111074	5243679	67	9439											
ABR	29	broad.mit.edu	37	chr17	1028558	1028558	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggagtcggggagacgccaTcccccccgccctggctgcgg	4	5	16	16	4	0	1	0	0	0	1	2	3	1	2	5	5	1	1	5	5	0	0			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr17:1028558T>C	ENST00000544583.2	-	2	667	c.68A>G	c.(67-69)gAt>gGt	p.D23G	ABR_ENST00000302538.5_Missense_Mutation_p.D69G|ABR_ENST00000574437.1_Missense_Mutation_p.D23G	NM_001159746.2	NP_001153218.1	Q12979	ABR_HUMAN	active BCR-related	69					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		GGAGACGCCATCCCCCCCGCC	0.677													3	85					0	0	1	0	0	C	1028558	T	C	1028558	3	2	201	1	0	0	0	0	1	0	0	0	99	1435	50	3	2600	3	ABR	17	1028558	Missense_Mutation	SNP	T	TCGA-HC-8265-01A-11D-2260-08		1028558	80166652	68	9440											
CAMTA2	23125	broad.mit.edu	37	chr17	4884982	4884982	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgccttacacatgggctTcagctgtcccaacaactcct	8	11	7	15	0	1	0	1	0	0	0	3	0	3	0	3	1	6	3	3	1	3	2			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr17:4884982T>G	ENST00000361571.5	-	6	964	c.553A>C	c.(553-555)Aag>Cag	p.K185Q	CAMTA2_ENST00000572543.1_Missense_Mutation_p.K191Q|CAMTA2_ENST00000348066.3_Missense_Mutation_p.K186Q|CAMTA2_ENST00000381311.5_Missense_Mutation_p.K188Q|CAMTA2_ENST00000414043.3_Missense_Mutation_p.K209Q|CAMTA2_ENST00000358183.4_Missense_Mutation_p.K186Q	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	186					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						CACATGGGCTTCAGCTGTCCC	0.602													3	70					0	0	1	0	0	G	4884982	T	G	4884982	3	3	201	1	0	0	0	0	1	0	0	0	2632	1792	62	5	3170	5	CAMTA2	17	4884982	Missense_Mutation	SNP	T	TCGA-HC-8265-01A-11D-2260-08	3856424	4884982	76310228	69	9441											
NEURL4	84461	broad.mit.edu	37	chr17	7229026	7229026	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccttgtgaggccaatgtggtCaccctcctaatcaaagaaga	12	9	9	11	0	2	3	2	1	0	2	3	3	3	3	4	2	0	0	4	2	4	2			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr17:7229026C>T	ENST00000399464.2	-	7	1315	c.1300G>A	c.(1300-1302)Gac>Aac	p.D434N	NEURL4_ENST00000570460.1_Missense_Mutation_p.D412N|NEURL4_ENST00000315614.7_Missense_Mutation_p.D434N	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCAATGTGGTCACCCTCCTAA	0.532													12	53					0	0	1	0	0	T	7229026	C	T	7229026	3	4	201	1	0	0	0	0	1	0	0	0	10394	826	29	2	3480	2	NEURL4	17	7229026	Missense_Mutation	SNP	C	TCGA-HC-8265-01A-11D-2260-08	2344044	7229026	73966184	70	9442											
CDK12	51755	broad.mit.edu	37	chr17	37627877	37627877	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agacatctgctgtgtcctctCaggcaaattctcagccccct	8	11	7	15	0	3	1	2	0	3	1	6	1	4	1	3	1	2	2	3	1	1	1			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr17:37627877C>T	ENST00000447079.4	+	2	1825	c.1792C>T	c.(1792-1794)Cag>Tag	p.Q598*	CDK12_ENST00000430627.2_Nonsense_Mutation_p.Q598*	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	598					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						TGTGTCCTCTCAGGCAAATTC	0.488			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)			60	136					0	0	1	0	0	T	37627877	C	T	37627877	4	4	201	1	0	0	0	0	0	1	0	0	3150	827	29	2	1798	2	CDK12	17	37627877	Nonsense_Mutation	SNP	C	TCGA-HC-8265-01A-11D-2260-08	30398851	37627877	43567333	71	9443											
KRT38	8687	broad.mit.edu	37	chr17	39595598	39595598	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccagctggcgcagggagcGctcactctccagcctttcat	7	8	10	16	2	3	0	2	0	1	0	4	1	3	1	3	2	3	3	3	2	0	1			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr17:39595598G>A	ENST00000246646.3	-	3	588	c.589C>T	c.(589-591)Cgc>Tgc	p.R197C		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	197	Coil 1B.|Rod.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				CGCAGGGAGCGCTCACTCTCC	0.622													4	66					0	0	1	0	0	A	39595598	G	A	39595598	3	1	201	1	0	0	0	0	1	0	0	0	8518	1087	38	1	801	1	KRT38	17	39595598	Missense_Mutation	SNP	G	TCGA-HC-8265-01A-11D-2260-08	1967721	39595598	41599612	72	9444											
STAT3	6774	broad.mit.edu	37	chr17	40477031	40477031	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caggatggacgcccaggcatTtggcatctgacagatgttgg	9	9	14	9	1	1	2	0	1	1	1	1	4	1	4	1	5	0	3	1	5	0	2			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr17:40477031T>C	ENST00000264657.5	-	16	1726	c.1414A>G	c.(1414-1416)Aat>Gat	p.N472D	STAT3_ENST00000585517.1_Missense_Mutation_p.N472D|STAT3_ENST00000389272.3_Missense_Mutation_p.N374D|STAT3_ENST00000588969.1_Missense_Mutation_p.N472D|STAT3_ENST00000404395.3_Missense_Mutation_p.N472D	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	472					cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		GCCCAGGCATTTGGCATCTGA	0.577									Hyperimmunoglobulin E Recurrent Infection Syndrome				5	136					0	0	1	0	0	C	40477031	T	C	40477031	3	2	201	1	0	0	0	0	1	0	0	0	15322	1841	64	3	934	3	STAT3	17	40477031	Missense_Mutation	SNP	T	TCGA-HC-8265-01A-11D-2260-08	881433	40477031	40718179	73	9445											
CNTNAP1	8506	broad.mit.edu	37	chr17	40847632	40847632	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagttctcccacatgctgaGccggccagtgccaggctatg	7	8	13	13	1	1	1	0	1	1	0	2	2	1	2	4	3	3	3	4	3	1	2			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr17:40847632G>T	ENST00000264638.4	+	19	3303	c.3086G>T	c.(3085-3087)aGc>aTc	p.S1029I	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	1029					axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	p.S1029I(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CACATGCTGAGCCGGCCAGTG	0.617													7	76					0.27861	0.284073	1	1	0	T	40847632	G	T	40847632	3	4	201	1	0	0	0	0	1	0	0	0	3669	971	34	4	3160	4	CNTNAP1	17	40847632	Missense_Mutation	SNP	G	TCGA-HC-8265-01A-11D-2260-08	370601	40847632	40347578	74	9446											
ABCC3	8714	broad.mit.edu	37	chr17	48741453	48741453	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccctgcagatcatcctggCgatctacttcctctggcagg	7	10	9	15	1	3	1	1	0	2	1	5	2	5	1	4	3	2	2	4	3	1	2			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr17:48741453C>T	ENST00000285238.8	+	10	1399	c.1319C>T	c.(1318-1320)gCg>gTg	p.A440V	ABCC3_ENST00000427699.1_Missense_Mutation_p.A440V	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	440	ABC transmembrane type-1 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	ATCATCCTGGCGATCTACTTC	0.552													7	131					0	0	1	0	0	T	48741453	C	T	48741453	3	4	201	1	0	0	0	0	1	0	0	0	54	768	27	1	1357	1	ABCC3	17	48741453	Missense_Mutation	SNP	C	TCGA-HC-8265-01A-11D-2260-08	7893821	48741453	32453757	75	9447											
SECTM1	6398	broad.mit.edu	37	chr17	80282491	80282491	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgacttgtctgttatttcTctggtgtcccacgaggtgcc	4	15	11	11	2	2	1	0	1	2	0	4	2	3	1	2	2	1	1	2	2	1	3			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr17:80282491T>A	ENST00000269389.3	-	3	720	c.370A>T	c.(370-372)Aga>Tga	p.R124*	SECTM1_ENST00000580437.1_Nonsense_Mutation_p.R124*	NM_003004.2	NP_002995.1	Q8WVN6	SCTM1_HUMAN	secreted and transmembrane 1	124					immune response|mesoderm development|positive regulation of I-kappaB kinase/NF-kappaB cascade	extracellular space|Golgi apparatus|integral to membrane|plasma membrane	cytokine activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(1)	4	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			CTGTTATTTCTCTGGTGTCCC	0.642													3	66					0	0	1	0	0	A	80282491	T	A	80282491	4	1	201	1	0	0	0	0	0	1	0	0	14062	1559	54	5	388	5	SECTM1	17	80282491	Nonsense_Mutation	SNP	T	TCGA-HC-8265-01A-11D-2260-08	31541038	80282491	912719	76	9448											
C18orf8	29919	broad.mit.edu	37	chr18	21098913	21098913	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcggacctccaacagcacagGagcggaggtggtcctctatc	9	7	12	13	2	1	0	0	0	1	0	5	3	3	3	3	5	3	1	3	5	2	1			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr18:21098913G>T	ENST00000269221.3	+	8	823	c.713G>T	c.(712-714)gGa>gTa	p.G238V	C18orf8_ENST00000590868.1_Missense_Mutation_p.G190V	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	238								p.G238V(1)		endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AACAGCACAGGAGCGGAGGTG	0.438													14	46					3.45872e-05	3.74694e-05	1	1	0	T	21098913	G	T	21098913	3	4	201	1	0	0	0	0	1	0	0	0	1919	1174	41	4	743	4	C18orf8	18	21098913	Missense_Mutation	SNP	G	TCGA-HC-8265-01A-11D-2260-08		21098913	56978335	77	9449											
NCAN	1463	broad.mit.edu	37	chr19	19338463	19338463	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctgcagagaccaaggtgtaTtccctgcctctctctttgac	7	12	9	13	0	2	2	0	1	2	1	4	3	3	2	3	1	2	3	3	1	2	3			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr19:19338463T>C	ENST00000252575.5	+	8	2077	c.2034T>C	c.(2032-2034)taT>taC	p.Y678Y	NCAN_ENST00000538881.1_Silent_p.Y129Y	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	678					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CCAAGGTGTATTCCCTGCCTC	0.617													6	200					0	0	1	0	0	C	19338463	T	C	19338463	2	2	201	1	0	0	0	0	0	0	0	1	10251	1500	52	3		3	NCAN	19	19338463	Silent	SNP	T	TCGA-HC-8265-01A-11D-2260-08		19338463	39790520	78	9450											
MAG	4099	broad.mit.edu	37	chr19	35786682	35786682	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taccccaagaactaccccccGgtggtcttcaagtcgcgcac	9	7	8	17	3	2	1	1	0	1	1	3	1	2	1	5	2	3	1	5	2	5	3			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr19:35786682G>A	ENST00000361922.4	+	4	363	c.213G>A	c.(211-213)ccG>ccA	p.P71P	MAG_ENST00000392213.3_Silent_p.P71P|MAG_ENST00000537831.2_Silent_p.P46P|MAG_ENST00000597035.1_Intron	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	myelin associated glycoprotein	71	Ig-like V-type.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding	p.P71P(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			ACTACCCCCCGGTGGTCTTCA	0.637													10	203					0	0	1	0	0	A	35786682	G	A	35786682	2	1	201	1	0	0	0	0	0	0	0	1	9208	1103	39	1		1	MAG	19	35786682	Silent	SNP	G	TCGA-HC-8265-01A-11D-2260-08	16448219	35786682	23342301	79	9451											
FCGBP	8857	broad.mit.edu	37	chr19	40411866	40411866	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtagtgggggtctcctgaCgcctggcaggtgctagagcc	5	9	17	10	1	1	2	0	1	1	1	2	2	1	2	3	4	2	3	3	4	2	2	rs144633711		TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr19:40411866C>T	ENST00000221347.6	-	7	3769	c.3762G>A	c.(3760-3762)gcG>gcA	p.A1254A		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1254	VWFD 3.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGTCTCCTGACGCCTGGCAGG	0.677													17	58					0	0	1	0	0	T	40411866	C	T	40411866	2	4	201	1	0	0	0	0	0	0	0	1	5811	523	19	1		1	FCGBP	19	40411866	Silent	SNP	C	TCGA-HC-8265-01A-11D-2260-08	4625184	40411866	18717117	80	9452											
ZNF154	7710	broad.mit.edu	37	chr19	58213660	58213660	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aataattttccacattcatcAcattcatgaggtcgtactgc	12	14	5	10	1	3	1	3	1	0	0	5	1	4	1	1	1	2	1	1	1	3	6			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr19:58213660A>G	ENST00000512439.2	-	3	853	c.657T>C	c.(655-657)tgT>tgC	p.C219C	ZNF154_ENST00000426889.1_Silent_p.C219C|AC003006.7_ENST00000596085.1_Intron|AC003006.7_ENST00000599221.1_Intron			Q13106	ZN154_HUMAN	zinc finger protein 154	219						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(3)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CACATTCATCACATTCATGAG	0.433													34	73					0	0	1	0	0	G	58213660	A	G	58213660	2	3	201	1	0	0	0	0	0	0	0	1	17793	157	6	3		3	ZNF154	19	58213660	Silent	SNP	A	TCGA-HC-8265-01A-11D-2260-08	17801794	58213660	915323	81	9453											
IFT52	51098	broad.mit.edu	37	chr20	42265850	42265850	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctatttgatttagatgaaacGttctcctctgagaaggcacg	11	13	9	8	2	2	4	0	3	2	2	3	5	2	4	1	1	1	2	1	1	4	5			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr20:42265850G>A	ENST00000373030.3	+	12	1207	c.1077G>A	c.(1075-1077)acG>acA	p.T359T	IFT52_ENST00000373039.4_Silent_p.T359T	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	intraflagellar transport 52 homolog (Chlamydomonas)	359						intraflagellar transport particle B|microtubule-based flagellum	protein C-terminus binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TAGATGAAACGTTCTCCTCTG	0.418													24	53					0	0	1	0	0	A	42265850	G	A	42265850	2	1	201	1	0	0	0	0	0	0	0	1	7605	1132	40	1		1	IFT52	20	42265850	Silent	SNP	G	TCGA-HC-8265-01A-11D-2260-08		42265850	20759670	82	9454											
WFDC10A	140832	broad.mit.edu	37	chr20	44258532	44258532	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggaggataccgtgacaagaAgaggatgcagagtaggtgat	14	6	17	4	1	0	5	0	2	0	3	0	8	0	8	1	4	2	2	1	4	4	2			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr20:44258532A>T	ENST00000372643.3	+	1	368	c.80A>T	c.(79-81)aAg>aTg	p.K27M	WFDC9_ENST00000326000.1_Intron	NM_080753.2	NP_542791.1	Q9H1F0	WF10A_HUMAN	WAP four-disulfide core domain 10A	27						extracellular region	serine-type endopeptidase inhibitor activity			large_intestine(2)	2		Myeloproliferative disorder(115;0.0122)				CGTGACAAGAAGAGGATGCAG	0.587											OREG0025983	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	48					0	0	1	0	0	T	44258532	A	T	44258532	3	4	201	1	0	0	0	0	1	0	0	0	17407	72	3	5	82	5	WFDC10A	20	44258532	Missense_Mutation	SNP	A	TCGA-HC-8265-01A-11D-2260-08	1992682	44258532	18766988	83	9455											
FGD1	2245	broad.mit.edu	37	chrX	54481902	54481902	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcctggagctcgagggagCgctgctttcctgacaccagg	6	8	15	12	2	0	1	0	1	0	0	2	4	1	3	3	4	3	3	3	4	0	1			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chrX:54481902C>T	ENST00000375135.3	-	12	2727	c.1994G>A	c.(1993-1995)cGc>cAc	p.R665H		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	665	PH 1.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	p.R665L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CTCGAGGGAGCGCTGCTTTCC	0.557													6	16					0	0	1	0	0	T	54481902	C	T	54481902	3	4	201	1	0	0	0	0	1	0	0	0	5865	768	27	1	919	1	FGD1	23	54481902	Missense_Mutation	SNP	C	TCGA-HC-8265-01A-11D-2260-08		54481902	100788658	84	9456											
PCDH11X	27328	broad.mit.edu	37	chrX	91132587	91132587	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacctcctttgaatcagtcaGcaatgctcttcatcaaagtg	12	12	6	11	0	5	1	4	1	1	0	6	1	6	1	2	0	3	2	2	0	4	2			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chrX:91132587G>A	ENST00000373094.1	+	2	2193	c.1348G>A	c.(1348-1350)Gca>Aca	p.A450T	PCDH11X_ENST00000298274.8_Missense_Mutation_p.A450T|PCDH11X_ENST00000406881.1_Missense_Mutation_p.A450T|PCDH11X_ENST00000373097.1_Missense_Mutation_p.A450T|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A450T|PCDH11X_ENST00000395337.2_Missense_Mutation_p.A450T|PCDH11X_ENST00000361724.1_Missense_Mutation_p.A450T|PCDH11X_ENST00000504220.1_Missense_Mutation_p.A450T|PCDH11X_ENST00000361655.2_Missense_Mutation_p.A450T	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	450	Cadherin 4.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GAATCAGTCAGCAATGCTCTT	0.418													32	21					0	0	1	0	0	A	91132587	G	A	91132587	3	1	201	1	0	0	0	0	1	0	0	0	11555	971	34	2	1354	2	PCDH11X	23	91132587	Missense_Mutation	SNP	G	TCGA-HC-8265-01A-11D-2260-08	36650685	91132587	64137973	85	9457											
CT45A5	441521	broad.mit.edu	37	chrX	134948025	134948025	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggtcatctccagagaaattGctggtaacatttcctcccac	11	11	7	12	0	2	1	1	0	1	1	5	2	4	1	3	2	2	2	3	2	2	3			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chrX:134948025G>T	ENST00000370724.3	-	3	544	c.300C>A	c.(298-300)agC>agA	p.S100R	CT45A4_ENST00000420087.2_Intron|CT45A5_ENST00000491480.1_Missense_Mutation_p.S100R	NM_001007551.3|NM_001172288.1	NP_001007552.1|NP_001165759.1	Q6NSH3	CT455_HUMAN	cancer/testis antigen family 45, member A5	100										endometrium(1)|large_intestine(2)|lung(6)	9						CAGAGAAATTGCTGGTAACAT	0.423													76	53					1.17954e-47	1.37834e-47	1	1	0	T	134948025	G	T	134948025	3	4	201	1	0	0	0	0	1	0	0	0	4014	1310	46	4	281	4	CT45A5	23	134948025	Missense_Mutation	SNP	G	TCGA-HC-8265-01A-11D-2260-08	43815438	134948025	20322535	86	9458											
MAGEC3	139081	broad.mit.edu	37	chrX	140969484	140969484	+	Frame_Shift_Del	DEL	C	C	-																															tgagtgatgagcagggcatgCcccagaaccgcctcctgatt																										TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chrX:140969484delC	ENST00000298296.1	+	4	811	c.811delC	c.(811-813)ccfs	p.P271fs	MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000448920.1_Intron|MAGEC3_ENST00000443323.2_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	271	MAGE 1.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GCAGGGCATGCCCCAGAACCG	0.498													86	61	---	---	---	---						-	140969484	C	-	140969484	7	5	201	1	0	1	0	1	0	0	0	0	9232	739	26	0	825	0	MAGEC3	23	140969484	Frame_Shift_Del	DEL	C	TCGA-HC-8265-01A-11D-2260-08	6021459	140969484	14301076	87	9459											
SCNN1D	6339	broad.mit.edu	37	chr1	1222261	1222262	+	Frame_Shift_Ins	INS	-	-	C																															gccgccctctccgccactgtINScccccgccacgagcccccct																										TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr1:1222261_1222262insC	ENST00000338555.2	+	5	1677_1678	c.533_534insC	c.(532-534)gccfs	p.A178fs	SCNN1D_ENST00000379116.5_Frame_Shift_Ins_p.A342fs|SCNN1D_ENST00000325425.8_Frame_Shift_Ins_p.A244fs|SCNN1D_ENST00000400928.3_Frame_Shift_Ins_p.A178fs					sodium channel, non-voltage-gated 1, delta subunit											lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		TCCGCCACTGTCCCCCGCCACG	0.644													7	153	---	---	---	---						C	1222262	-	C	1222261	7	5	202	1	0	1	1	0	0	0	0	0	13983	1667	58	0	749	0	SCNN1D	1	1222261	Frame_Shift_Ins	INS	-	TCGA-HC-8266-01A-11D-2260-08		1222261	248028360	1	9460											
EPHB2	2048	broad.mit.edu	37	chr1	23240245	23240246	+	Frame_Shift_Ins	INS	-	-	A																															acatgcaactcaaacgacggINSaaaaaaaaagggaatgggaa																								rs56871920		TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr1:23240245_23240246insA	ENST00000400191.3	+	17	3068_3069	c.3050_3051insA	c.(3049-3051)gaafs	p.E1017fs	EPHB2_ENST00000374627.1_3'UTR|EPHB2_ENST00000374632.3_3'UTR	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	1017					axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		TCAAACGACGGAAAAAAAAAGG	0.5													3	5	---	---	---	---						A	23240246	-	A	23240245	7	5	202	1	0	1	1	0	0	0	0	0	5203	1189	41	0		0	EPHB2	1	23240245	Frame_Shift_Ins	INS	-	TCGA-HC-8266-01A-11D-2260-08	22017984	23240245	226010376	2	9461											
ARID1A	8289	broad.mit.edu	37	chr1	27023451	27023453	+	In_Frame_Del	DEL	GCG	GCG	-																															tggcctggcagcgctgcagaGcggcggcggcgggggcctgg																										TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr1:27023451_27023453delGCG	ENST00000324856.7	+	1	928_930	c.557_559delGCG	c.(556-561)agc>a	p.SG186del	ARID1A_ENST00000457599.2_In_Frame_Del_p.SG186del	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	186					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCGCTGCAGAGCGGCGGCGGCGG	0.709			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								2	4	---	---	---	---						-	27023453	GCG	-	27023451	7	5	202	1	0	1	0	1	0	0	0	0	910	971	34	0	559	0	ARID1A	1	27023451	In_Frame_Del	DEL	GCG	TCGA-HC-8266-01A-11D-2260-08	3783206	27023451	222227170	3	9462											
LHX8	431707	broad.mit.edu	37	chr1	75609601	75609601	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atccaaaaccagcaaaaagaGctcggaccagctttacagca	17	5	7	12	1	0	1	0	0	0	1	2	2	1	2	3	1	6	4	3	1	5	2			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr1:75609601G>T	ENST00000294638.5	+	7	1346	c.682G>T	c.(682-684)Gct>Tct	p.A228S	LHX8_ENST00000356261.3_Missense_Mutation_p.A218S	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	228						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						AGCAAAAAGAGCTCGGACCAG	0.398													7	37					0.00307968	0.00321358	1	1	0	T	75609601	G	T	75609601	3	4	202	1	0	0	0	0	1	0	0	0	8816	971	34	4	704	4	LHX8	1	75609601	Missense_Mutation	SNP	G	TCGA-HC-8266-01A-11D-2260-08	48586150	75609601	173641020	4	9463											
BCAR3	8412	broad.mit.edu	37	chr1	94054855	94054855	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgagtcgcagaactgtcCggttgattttgaagtgctga	8	12	13	8	3	0	5	0	4	0	1	2	5	1	5	1	1	2	4	1	1	2	3			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr1:94054855C>T	ENST00000370244.1	-	7	896	c.608G>A	c.(607-609)cGg>cAg	p.R203Q	BCAR3_ENST00000370243.1_Missense_Mutation_p.R203Q|BCAR3_ENST00000370247.3_Missense_Mutation_p.R112Q|BCAR3_ENST00000260502.6_Missense_Mutation_p.R203Q	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	203	SH2.				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		CAGAACTGTCCGGTTGATTTT	0.582													4	39					0	0	1	0	0	T	94054855	C	T	94054855	3	4	202	1	0	0	0	0	1	0	0	0	1347	652	23	1	1901	1	BCAR3	1	94054855	Missense_Mutation	SNP	C	TCGA-HC-8266-01A-11D-2260-08	18445254	94054855	155195766	5	9464											
GATAD2B	57459	broad.mit.edu	37	chr1	153788813	153788813	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtagatgaactcgctattGgctgcactaggcaagaaatg	13	10	11	7	1	0	3	0	1	0	2	1	3	0	3	0	2	2	5	0	2	6	4			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr1:153788813G>C	ENST00000368655.4	-	7	1395	c.1152C>G	c.(1150-1152)gcC>gcG	p.A384A		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	384	CR2.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ACTCGCTATTGGCTGCACTAG	0.463													7	83					0	0	1	0	0	C	153788813	G	C	153788813	2	2	202	1	0	0	0	0	0	0	0	1	6301	1335	47	4		4	GATAD2B	1	153788813	Silent	SNP	G	TCGA-HC-8266-01A-11D-2260-08	59733958	153788813	95461808	6	9465											
NLRP3	114548	broad.mit.edu	37	chr1	247588840	247588840	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaggaggaaaaggaaggcCgacaccttgatatggtgcag	14	5	16	6	1	0	1	0	1	0	0	0	6	0	5	2	6	1	1	2	6	4	2			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr1:247588840C>T	ENST00000366497.2	+	4	2875	c.2095C>T	c.(2095-2097)Cga>Tga	p.R699*	NLRP3_ENST00000391827.2_Nonsense_Mutation_p.R699*|NLRP3_ENST00000348069.2_Nonsense_Mutation_p.R699*|NLRP3_ENST00000366496.2_Nonsense_Mutation_p.R699*|NLRP3_ENST00000391828.3_Nonsense_Mutation_p.R699*|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000336119.3_Nonsense_Mutation_p.R699*	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	699					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			AAAGGAAGGCCGACACCTTGA	0.532													5	43					0	0	1	0	0	T	247588840	C	T	247588840	4	4	202	1	0	0	0	0	0	1	0	0	10525	644	23	1	2105	1	NLRP3	1	247588840	Nonsense_Mutation	SNP	C	TCGA-HC-8266-01A-11D-2260-08	93800027	247588840	1661781	7	9466											
BAZ2B	29994	broad.mit.edu	37	chr2	160289578	160289578	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agatttacaggtgaggaaaaAggggtgctacttgcagcagc	13	8	14	6	0	0	2	0	1	0	1	0	3	0	3	0	4	6	3	0	4	4	4			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr2:160289578A>G	ENST00000392783.2	-	9	2085	c.1590T>C	c.(1588-1590)ccT>ccC	p.P530P	BAZ2B_ENST00000392782.1_Silent_p.P528P|BAZ2B_ENST00000355831.2_Silent_p.P530P|BAZ2B_ENST00000343439.5_Silent_p.P528P	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	530			P -> L (in dbSNP:rs3732287).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						GTGAGGAAAAAGGGGTGCTAC	0.443													3	111					0	0	1	0	0	G	160289578	A	G	160289578	2	3	202	1	0	0	0	0	0	0	0	1	1330	59	3	3		3	BAZ2B	2	160289578	Silent	SNP	A	TCGA-HC-8266-01A-11D-2260-08		160289578	82909795	8	9467											
SLC11A1	6556	broad.mit.edu	37	chr2	219249918	219249918	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgttgggcttgctctgccagCgactggctgcacgtctgggc	3	11	15	12	2	2	0	0	0	2	0	2	1	2	0	1	3	4	5	1	3	0	2			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr2:219249918C>A	ENST00000233202.6	+	4	662	c.322C>A	c.(322-324)Cga>Aga	p.R108R	SLC11A1_ENST00000473367.1_3'UTR|SLC11A1_ENST00000539932.1_5'UTR	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	108					activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTCTGCCAGCGACTGGCTGC	0.632													3	126					0.004672	0.0047714	1	1	0	A	219249918	C	A	219249918	2	1	202	1	0	0	0	0	0	0	0	1	14435	760	27	4		4	SLC11A1	2	219249918	Silent	SNP	C	TCGA-HC-8266-01A-11D-2260-08	58960340	219249918	23949455	9	9468											
KIAA1407	57577	broad.mit.edu	37	chr3	113753974	113753974	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtactccagttctttctcacGtcttaagcgattttctttta	7	19	5	10	2	4	0	1	0	4	0	6	1	5	0	1	0	2	2	1	0	3	8			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr3:113753974G>A	ENST00000295878.3	-	6	762	c.616C>T	c.(616-618)Cgt>Tgt	p.R206C	KIAA1407_ENST00000545063.1_Missense_Mutation_p.R37C	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	206										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						TCTTTCTCACGTCTTAAGCGA	0.383													6	33					0	0	1	0	0	A	113753974	G	A	113753974	3	1	202	1	0	0	0	0	1	0	0	0	8271	1145	40	1	2242	1	KIAA1407	3	113753974	Missense_Mutation	SNP	G	TCGA-HC-8266-01A-11D-2260-08		113753974	84268456	10	9469											
TAPT1	202018	broad.mit.edu	37	chr4	16189980	16189981	+	Splice_Site	INS	-	-	A																															aaacagacgatcagctacctINSaaaaaaaaaaattatttgta																										TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr4:16189980_16189981insA	ENST00000405303.2	-	5	696		c.e5-2		TAPT1_ENST00000304584.8_Splice_Site|TAPT1_ENST00000399920.3_Splice_Site|TAPT1_ENST00000508888.1_Splice_Site	NM_153365.2	NP_699196.2	Q6NXT6	TAPT1_HUMAN	transmembrane anterior posterior transformation 1							integral to membrane	growth hormone-releasing hormone receptor activity			NS(1)|breast(2)|cervix(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	10						ATCAGCTACCTAAAAAAAAAAA	0.317													2	4	---	---	---	---						A	16189981	-	A	16189980	8	5	202	1	0	1	1	0	0	0	1	0	15611	1536	53	0	1132	0	TAPT1	4	16189980	Splice_Site	INS	-	TCGA-HC-8266-01A-11D-2260-08		16189980	174964296	11	9470											
SLC34A2	10568	broad.mit.edu	37	chr4	25667862	25667862	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagctccagcacctcaacGtccatcgttgtcagcatggt	9	9	9	14	2	2	1	2	0	0	1	5	1	4	1	3	1	4	4	3	1	1	1			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr4:25667862G>A	ENST00000382051.3	+	5	542	c.492G>A	c.(490-492)acG>acA	p.T164T	SLC34A2_ENST00000510033.2_3'UTR|SLC34A2_ENST00000504570.1_Silent_p.T163T|SLC34A2_ENST00000503434.1_Silent_p.T163T	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	164					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				GCACCTCAACGTCCATCGTTG	0.557			T	ROS1	NSCLC								3	71					0	0	1	0	0	A	25667862	G	A	25667862	2	1	202	1	0	0	0	0	0	0	0	1	14623	1132	40	1		1	SLC34A2	4	25667862	Silent	SNP	G	TCGA-HC-8266-01A-11D-2260-08	9477882	25667862	165486414	12	9471											
SLC30A9	10463	broad.mit.edu	37	chr4	42072553	42072553	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcatttaggcaatccactGtatgacagcctaggttcttt	9	15	7	10	0	2	1	1	1	1	0	3	1	3	1	2	2	1	3	2	2	4	7			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr4:42072553G>A	ENST00000264451.6	+	15	1443	c.1263G>A	c.(1261-1263)ctG>ctA	p.L421L		NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9	421					nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GCAATCCACTGTATGACAGCC	0.398													23	110					0	0	1	0	0	A	42072553	G	A	42072553	2	1	202	1	0	0	0	0	0	0	0	1	14617	1364	48	2		2	SLC30A9	4	42072553	Silent	SNP	G	TCGA-HC-8266-01A-11D-2260-08	16404691	42072553	149081723	13	9472											
PLAC8	51316	broad.mit.edu	37	chr4	84026088	84026088	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtagagagtcctcattgcGacgcttgttccacacagaca	10	10	9	12	2	1	2	1	0	0	2	3	4	3	2	2	0	1	3	2	0	1	4			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr4:84026088G>A	ENST00000426923.2	-	3	282	c.204C>T	c.(202-204)gtC>gtT	p.V68V	PLAC8_ENST00000505406.1_Silent_p.V68V|PLAC8_ENST00000311507.4_Silent_p.V68V|PLAC8_ENST00000509973.1_Silent_p.V11V|PLAC8_ENST00000515389.1_Intron|PLAC8_ENST00000411416.2_Silent_p.V68V	NM_001130715.1	NP_001124187.1	Q9NZF1	PLAC8_HUMAN	placenta-specific 8	68										large_intestine(2)|lung(3)|ovary(1)	6		Hepatocellular(203;0.114)				TCCTCATTGCGACGCTTGTTC	0.443													8	95					0	0	1	0	0	A	84026088	G	A	84026088	2	1	202	1	0	0	0	0	0	0	0	1	12063	1045	37	1		1	PLAC8	4	84026088	Silent	SNP	G	TCGA-HC-8266-01A-11D-2260-08	41953535	84026088	107128188	14	9473											
TBC1D9	23158	broad.mit.edu	37	chr4	141543453	141543453	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctggccatcatgcacacggGcttgtcaaagtacttgacca	10	9	9	13	1	2	1	2	1	0	0	2	1	2	1	3	2	2	3	3	2	2	3			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr4:141543453G>T	ENST00000442267.2	-	21	3771	c.3697C>A	c.(3697-3699)Ccc>Acc	p.P1233T		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	1233						intracellular	calcium ion binding|Rab GTPase activator activity	p.P1233T(2)		endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				ATGCACACGGGCTTGTCAAAG	0.592													7	42					2.0095e-06	2.24316e-06	1	1	0	T	141543453	G	T	141543453	3	4	202	1	0	0	0	0	1	0	0	0	15687	1203	42	4	107	4	TBC1D9	4	141543453	Missense_Mutation	SNP	G	TCGA-HC-8266-01A-11D-2260-08	57517365	141543453	49610823	15	9474											
PCDHB2	0	broad.mit.edu	37	chr5	140476458	140476458	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccgtctacctggtggtggCgttggcctcggtgtcttcgc	2	12	14	13	4	2	0	0	0	2	0	4	0	2	0	3	5	1	1	3	5	1	3			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr5:140476458C>T	ENST00000194155.4	+	1	2232	c.2084C>T	c.(2083-2085)gCg>gTg	p.A695V		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		695					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGGTGGTGGCGTTGGCCTCG	0.697													21	212					0	0	1	0	0	T	140476458	C	T	140476458	3	4	202	1	0	0	0	0	1	0	0	0	11589	768	27	1	2086	1	PCDHB2	5	140476458	Missense_Mutation	SNP	C	TCGA-HC-8266-01A-11D-2260-08		140476458	40438802	16	9475											
SYNE1	23345	broad.mit.edu	37	chr6	152522967	152522967	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcagtaatttaccttgcaacGcatttgttctgcatggagct	9	15	8	9	1	2	0	1	0	1	0	2	1	2	1	1	1	5	6	1	1	3	6			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr6:152522967G>A	ENST00000367255.5	-	127	23738	c.23137C>T	c.(23137-23139)Cgt>Tgt	p.R7713C	SYNE1_ENST00000423061.1_Missense_Mutation_p.R7642C|SYNE1_ENST00000341594.5_Missense_Mutation_p.R7325C|SYNE1_ENST00000448038.1_Missense_Mutation_p.R7642C|SYNE1_ENST00000265368.4_Missense_Mutation_p.R7713C|SYNE1_ENST00000356820.4_Missense_Mutation_p.R2237C	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7713					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACCTTGCAACGCATTTGTTCT	0.448										HNSCC(10;0.0054)			4	73					0	0	1	0	0	A	152522967	G	A	152522967	3	1	202	1	0	0	0	0	1	0	0	0	15502	1087	38	1	3409	1	SYNE1	6	152522967	Missense_Mutation	SNP	G	TCGA-HC-8266-01A-11D-2260-08		152522967	18592100	17	9476											
ELMO1	9844	broad.mit.edu	37	chr7	37382282	37382282	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccaccttgacgatgtccgCgggtggcggcattgtaagtc	6	9	15	11	4	0	1	0	1	0	0	2	2	1	1	3	4	0	2	3	4	1	3	rs146510671		TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr7:37382282C>T	ENST00000310758.4	-	2	660	c.13G>A	c.(13-15)Gcg>Acg	p.A5T	ELMO1_ENST00000448602.1_Missense_Mutation_p.A5T|ELMO1_ENST00000442504.1_Missense_Mutation_p.A5T	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	5					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	p.A5T(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						ACGATGTCCGCGGGTGGCGGC	0.502													4	148					0	0	1	0	0	T	37382282	C	T	37382282	3	4	202	1	0	0	0	0	1	0	0	0	5093	768	27	1	2254	1	ELMO1	7	37382282	Missense_Mutation	SNP	C	TCGA-HC-8266-01A-11D-2260-08		37382282	121756381	18	9477											
BAZ1B	9031	broad.mit.edu	37	chr7	72891714	72891714	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agatctgcgcaagcagagccGcaccagctctgaaacagaat	14	5	10	12	2	2	4	0	1	2	3	2	4	2	4	2	0	5	4	2	0	3	0			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr7:72891714G>A	ENST00000339594.4	-	7	2415	c.2077C>T	c.(2077-2079)Cgg>Tgg	p.R693W	BAZ1B_ENST00000404251.1_Missense_Mutation_p.R693W	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	693					ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				AAGCAGAGCCGCACCAGCTCT	0.473													10	61					0	0	1	0	0	A	72891714	G	A	72891714	3	1	202	1	0	0	0	0	1	0	0	0	1328	1086	38	1	2426	1	BAZ1B	7	72891714	Missense_Mutation	SNP	G	TCGA-HC-8266-01A-11D-2260-08	35509432	72891714	86246949	19	9478											
ZNF395	55893	broad.mit.edu	37	chr8	28206326	28206326	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccatacaccttgcggcacttCttagcctcccctcgggcttt	5	12	7	17	2	1	0	0	0	1	0	3	0	2	0	5	2	3	2	5	2	2	5			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr8:28206326C>T	ENST00000344423.5	-	10	1583	c.1452G>A	c.(1450-1452)aaG>aaA	p.K484K	ZNF395_ENST00000523202.1_Silent_p.K484K|ZNF395_ENST00000523095.1_Silent_p.K484K	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	484					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		TGCGGCACTTCTTAGCCTCCC	0.627													6	74					0	0	1	0	0	T	28206326	C	T	28206326	2	4	202	1	0	0	0	0	0	0	0	1	17938	912	32	2		2	ZNF395	8	28206326	Silent	SNP	C	TCGA-HC-8266-01A-11D-2260-08		28206326	118157696	20	9479											
WWP1	11059	broad.mit.edu	37	chr8	87470210	87470210	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcagagaaatactgtttatCgacattatacaagaaacagc	17	9	8	7	1	0	2	0	0	0	2	1	4	0	2	0	1	4	2	0	1	7	5			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr8:87470210C>T	ENST00000517970.1	+	22	2762	c.2455C>T	c.(2455-2457)Cga>Tga	p.R819*	WWP1_ENST00000341922.2_Nonsense_Mutation_p.R689*|WWP1_ENST00000349423.2_Nonsense_Mutation_p.R601*|WWP1_ENST00000265428.4_Nonsense_Mutation_p.R819*	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	819	HECT.				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						TACTGTTTATCGACATTATAC	0.358													4	212					0	0	1	0	0	T	87470210	C	T	87470210	4	4	202	1	0	0	0	0	0	1	0	0	17475	876	31	1	2533	1	WWP1	8	87470210	Nonsense_Mutation	SNP	C	TCGA-HC-8266-01A-11D-2260-08	59263884	87470210	58893812	21	9480											
CDC14B	8555	broad.mit.edu	37	chr9	99296346	99296346	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagcatccgtaaagcgtttgGcatcatacatccttttattc	10	14	6	11	2	1	0	1	0	0	0	4	0	3	0	2	1	3	4	2	1	4	6			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr9:99296346G>C	ENST00000375241.1	-	9	1260	c.809C>G	c.(808-810)gCc>gGc	p.A270G	CDC14B_ENST00000463569.1_Missense_Mutation_p.A270G|CDC14B_ENST00000265659.2_Missense_Mutation_p.A270G|CDC14B_ENST00000375242.3_Missense_Mutation_p.A233G|CDC14B_ENST00000375240.3_Missense_Mutation_p.A270G|CDC14B_ENST00000375236.1_Missense_Mutation_p.A270G	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	270	B.				activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				AAAGCGTTTGGCATCATACAT	0.388													5	35					0	0	1	0	0	C	99296346	G	C	99296346	3	2	202	1	0	0	0	0	1	0	0	0	3079	1203	42	4	711	4	CDC14B	9	99296346	Missense_Mutation	SNP	G	TCGA-HC-8266-01A-11D-2260-08		99296346	41917085	22	9481											
PTPN3	0	broad.mit.edu	37	chr9	112185091	112185091	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatggctgggttccacaccAtcccgccaatcacctttttg	7	11	8	15	1	1	0	1	0	0	0	3	0	3	0	5	2	0	3	5	2	1	3			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr9:112185091A>C	ENST00000412145.1	-	8	3203	c.650T>G	c.(649-651)aTg>aGg	p.M217R	PTPN3_ENST00000374541.2_Missense_Mutation_p.M348R|PTPN3_ENST00000262539.3_Intron|PTPN3_ENST00000446349.1_Intron	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	348	FERM.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GTTCCACACCATCCCGCCAAT	0.463													26	194					0	0	1	0	0	C	112185091	A	C	112185091	3	2	202	1	0	0	0	0	1	0	0	0	12841	217	8	5	1754	5	PTPN3	9	112185091	Missense_Mutation	SNP	A	TCGA-HC-8266-01A-11D-2260-08	12888745	112185091	29028340	23	9482											
C9orf96	169436	broad.mit.edu	37	chr9	136260870	136260870	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatgctccagatcgacccCtcggatcgaataacgataaa	13	9	8	11	4	0	2	0	1	0	1	4	6	1	3	3	1	2	1	3	1	4	3			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr9:136260870C>G	ENST00000371957.3	+	9	953	c.846C>G	c.(844-846)ccC>ccG	p.P282P	C9orf96_ENST00000371955.1_5'UTR	NM_153710.3	NP_714921.3	Q8NE28	SGK71_HUMAN	chromosome 9 open reading frame 96	282	Protein kinase.						ATP binding|protein kinase activity			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		AGATCGACCCCTCGGATCGAA	0.493													21	51					0	0	1	0	0	G	136260870	C	G	136260870	2	3	202	1	0	0	0	0	0	0	0	1	2526	668	24	4		4	C9orf96	9	136260870	Silent	SNP	C	TCGA-HC-8266-01A-11D-2260-08	24075779	136260870	4952561	24	9483											
GPR158	57512	broad.mit.edu	37	chr10	25888046	25888046	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtaataacttccagcaacCtttaacatcacgagcagagg	16	8	7	10	1	1	1	1	0	0	1	2	2	2	1	2	1	5	3	2	1	5	5			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr10:25888046C>T	ENST00000376351.3	+	11	3850	c.3491C>T	c.(3490-3492)cCt>cTt	p.P1164L	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1164						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TTCCAGCAACCTTTAACATCA	0.433													5	41					0	0	1	0	0	T	25888046	C	T	25888046	3	4	202	1	0	0	0	0	1	0	0	0	6703	681	24	2	3533	2	GPR158	10	25888046	Missense_Mutation	SNP	C	TCGA-HC-8266-01A-11D-2260-08		25888046	109646701	25	9484											
MYO3A	53904	broad.mit.edu	37	chr10	26462763	26462763	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agagtgtatcagactccaaaAaaaatgaataatgtgtatga	19	10	8	4	0	1	4	1	2	0	2	2	4	2	4	1	0	0	2	1	0	8	3			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr10:26462763A>G	ENST00000265944.5	+	30	3736	c.3570A>G	c.(3568-3570)aaA>aaG	p.K1190K	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1190					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AGACTCCAAAAAAAATGAATA	0.408													8	39					0	0	1	0	0	G	26462763	A	G	26462763	2	3	202	1	0	0	0	0	0	0	0	1	10124	11	1	3		3	MYO3A	10	26462763	Silent	SNP	A	TCGA-HC-8266-01A-11D-2260-08	574717	26462763	109071984	26	9485											
CTSD	1509	broad.mit.edu	37	chr11	1780798	1780798	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggggacccacaggttggaGgagcccgtgtcgaagacgac	10	4	17	10	3	0	1	0	0	0	1	1	7	0	4	2	5	1	1	2	5	1	1			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr11:1780798G>A	ENST00000236671.2	-	3	432	c.300C>T	c.(298-300)tcC>tcT	p.S100S		NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	100					cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity			endometrium(1)|large_intestine(4)|lung(8)	13		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ACAGGTTGGAGGAGCCCGTGT	0.652													3	61					0	0	1	0	0	A	1780798	G	A	1780798	2	1	202	1	0	0	0	0	0	0	0	1	4056	987	35	2		2	CTSD	11	1780798	Silent	SNP	G	TCGA-HC-8266-01A-11D-2260-08		1780798	133225718	27	9486											
PDE3B	5140	broad.mit.edu	37	chr11	14808089	14808089	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccaccacaagtcatttcctCtctacggagtattagtagct	10	13	6	12	1	2	0	1	0	1	0	5	1	4	1	3	1	2	3	3	1	5	5			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr11:14808089C>T	ENST00000282096.4	+	3	1489	c.1136C>T	c.(1135-1137)tCt>tTt	p.S379F	PDE3B_ENST00000455098.2_Intron	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	379					cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GTCATTTCCTCTCTACGGAGT	0.448													25	117					0	0	1	0	0	T	14808089	C	T	14808089	3	4	202	1	0	0	0	0	1	0	0	0	11685	913	32	2	1146	2	PDE3B	11	14808089	Missense_Mutation	SNP	C	TCGA-HC-8266-01A-11D-2260-08	13027291	14808089	120198427	28	9487											
NAV2	89797	broad.mit.edu	37	chr11	19914062	19914062	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caactactgctaacaaccgaCgcagccagagctttaacaac	15	6	6	14	2	0	1	0	0	0	1	0	2	0	1	2	0	9	3	2	0	6	4	rs150041344	by1000genomes	TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr11:19914062C>T	ENST00000396085.1	+	6	1214	c.853C>T	c.(853-855)Cgc>Tgc	p.R285C	NAV2_ENST00000360655.4_Missense_Mutation_p.R221C|NAV2_ENST00000349880.4_Missense_Mutation_p.R285C|NAV2_ENST00000527559.2_Missense_Mutation_p.R237C|NAV2_ENST00000540292.1_Missense_Mutation_p.R239C|NAV2_ENST00000396087.3_Missense_Mutation_p.R308C	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	308						nucleus	ATP binding|helicase activity	p.R308C(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TAACAACCGACGCAGCCAGAG	0.547													9	43					0	0	1	0	0	T	19914062	C	T	19914062	3	4	202	1	0	0	0	0	1	0	0	0	10232	536	19	1	954	1	NAV2	11	19914062	Missense_Mutation	SNP	C	TCGA-HC-8266-01A-11D-2260-08	5105973	19914062	115092454	29	9488											
MAP3K11	4296	broad.mit.edu	37	chr11	65375265	65375265	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaggcgaagtcgggcctgcgGtgggggtcctgcgcccagca	5	5	19	12	4	0	0	0	0	0	0	2	2	1	0	3	5	3	1	3	5	1	0			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr11:65375265G>A	ENST00000309100.3	-	4	1577	c.1092C>T	c.(1090-1092)caC>caT	p.H364H	MAP3K11_ENST00000530153.1_Silent_p.H107H	NM_002419.3	NP_002410.1	Q16584	M3K11_HUMAN	mitogen-activated protein kinase kinase kinase 11	364	Protein kinase.				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						CGGGCCTGCGGTGGGGGTCCT	0.652													9	49					0	0	1	0	0	A	65375265	G	A	65375265	2	1	202	1	0	0	0	0	0	0	0	1	9295	1252	44	2		2	MAP3K11	11	65375265	Silent	SNP	G	TCGA-HC-8266-01A-11D-2260-08	45461203	65375265	69631251	30	9489											
PICALM	8301	broad.mit.edu	37	chr11	85725995	85725995	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgtgttcattgttctcataActccatcagccctgttatga	8	16	6	11	0	3	1	3	1	1	0	5	1	4	1	2	0	2	3	2	0	2	5			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr11:85725995A>G	ENST00000526033.1	-	5	780	c.464T>C	c.(463-465)gTt>gCt	p.V155A	PICALM_ENST00000393346.3_Missense_Mutation_p.V155A|PICALM_ENST00000356360.5_Missense_Mutation_p.V155A|PICALM_ENST00000532317.1_Missense_Mutation_p.V155A|PICALM_ENST00000528398.1_Missense_Mutation_p.V104A	NM_001206946.1|NM_007166.3	NP_001193875.1|NP_009097.2	Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	155					clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				TGTTCTCATAACTCCATCAGC	0.333			T	"MLLT10, MLL"	"TALL, AML, "								3	13					0	0	1	0	0	G	85725995	A	G	85725995	3	3	202	1	0	0	0	0	1	0	0	0	11928	43	2	3	1586	3	PICALM	11	85725995	Missense_Mutation	SNP	A	TCGA-HC-8266-01A-11D-2260-08	20350730	85725995	49280521	31	9490											
SIK3	23387	broad.mit.edu	37	chr11	116729075	116729075	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgtgcaaactctgttggggGcagccggatgtccgagtggc	6	9	16	10	2	1	0	0	0	1	0	2	2	2	1	2	4	3	3	2	4	1	1			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr11:116729075G>A	ENST00000375300.1	-	20	2967	c.2962C>T	c.(2962-2964)Ccc>Tcc	p.P988S	SIK3_ENST00000375288.1_Missense_Mutation_p.P265S|SIK3_ENST00000542607.1_Missense_Mutation_p.P870S|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000446921.2_Missense_Mutation_p.P928S|SIK3_ENST00000292055.4_Missense_Mutation_p.P930S|SIK3_ENST00000434315.2_Missense_Mutation_p.P769S			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	930						cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						TCTGTTGGGGGCAGCCGGATG	0.567													3	42					0	0	1	0	0	A	116729075	G	A	116729075	3	1	202	1	0	0	0	0	1	0	0	0	14374	1203	42	2	1019	2	SIK3	11	116729075	Missense_Mutation	SNP	G	TCGA-HC-8266-01A-11D-2260-08	31003080	116729075	18277441	32	9491											
TRAPPC4	51399	broad.mit.edu	37	chr11	118889681	118889681	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccagcgggacggcatccgagGtgggctaggctcgggcccgt	5	5	18	13	5	0	0	0	0	0	0	2	2	1	1	3	6	1	3	3	6	1	1			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr11:118889681G>A	ENST00000533632.1	+	1	539		c.e1+1		TRAPPC4_ENST00000525303.1_Splice_Site|TRAPPC4_ENST00000434101.2_Splice_Site|TRAPPC4_ENST00000533058.1_Splice_Site|TRAPPC4_ENST00000528230.1_Splice_Site|TRAPPC4_ENST00000359005.4_Splice_Site|MIR3656_ENST00000577421.1_RNA	NM_016146.4	NP_057230.1	Q9Y296	TPPC4_HUMAN	trafficking protein particle complex 4						dendrite development|ER to Golgi vesicle-mediated transport	cis-Golgi network|dendrite|endoplasmic reticulum|Golgi stack|synaptic vesicle	protein binding			NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		GGCATCCGAGGTGGGCTAGGC	0.627													4	98					0	0	1	0	0	A	118889681	G	A	118889681	5	1	202	1	0	0	0	0	0	0	1	0	16522	1275	44	2	178	2	TRAPPC4	11	118889681	Splice_Site	SNP	G	TCGA-HC-8266-01A-11D-2260-08	2160606	118889681	16116835	33	9492											
GRIN2B	2904	broad.mit.edu	37	chr12	13828770	13828770	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggacaaattcctccccTcaaaagtgacattgatcaga	15	9	7	10	0	2	4	2	3	0	1	4	5	4	5	3	1	0	0	3	1	4	2			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr12:13828770T>A	ENST00000279593.3	-	4	1243	c.1034A>T	c.(1033-1035)gAg>gTg	p.E345V		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	345					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATTCCTCCCCTCAAAAGTGAC	0.398													8	68					0	0	1	0	0	A	13828770	T	A	13828770	3	1	202	1	0	0	0	0	1	0	0	0	6821	1551	54	5	3460	5	GRIN2B	12	13828770	Missense_Mutation	SNP	T	TCGA-HC-8266-01A-11D-2260-08		13828770	120023125	34	9493											
RBL2	5934	broad.mit.edu	37	chr16	53504028	53504028	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacaccagttcctggacagActttggtcaccatggcaacc	10	9	8	14	0	2	1	2	0	0	1	3	2	3	2	4	3	1	2	4	3	1	2			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr16:53504028A>G	ENST00000262133.6	+	15	2313	c.2176A>G	c.(2176-2178)Act>Gct	p.T726A	RBL2_ENST00000544545.1_Intron|RBL2_ENST00000379935.4_3'UTR	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	726	Pocket; binds E1A.|Spacer.				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TCCTGGACAGACTTTGGTCAC	0.547													10	42					0	0	1	0	0	G	53504028	A	G	53504028	3	3	202	1	0	0	0	0	1	0	0	0	13162	275	10	3	2234	3	RBL2	16	53504028	Missense_Mutation	SNP	A	TCGA-HC-8266-01A-11D-2260-08		53504028	36850725	35	9494											
CNTNAP1	8506	broad.mit.edu	37	chr17	40847632	40847632	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagttctcccacatgctgaGccggccagtgccaggctatg	7	8	13	13	1	1	1	0	1	1	0	2	2	1	2	4	3	3	3	4	3	1	2			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr17:40847632G>T	ENST00000264638.4	+	19	3303	c.3086G>T	c.(3085-3087)aGc>aTc	p.S1029I	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	1029					axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	p.S1029I(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CACATGCTGAGCCGGCCAGTG	0.617													9	69					0.0477658	0.0477658	1	1	0	T	40847632	G	T	40847632	3	4	202	1	0	0	0	0	1	0	0	0	3669	971	34	4	3160	4	CNTNAP1	17	40847632	Missense_Mutation	SNP	G	TCGA-HC-8266-01A-11D-2260-08		40847632	40347578	36	9495											
ZNF878	729747	broad.mit.edu	37	chr19	12155673	12155673	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctacgaacagaactgggaaaActgaatgctttcccacactg	14	8	8	11	1	0	2	0	1	0	1	1	4	1	3	1	1	5	1	1	1	6	2			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr19:12155673A>C	ENST00000602107.1	-	5	683	c.684T>G	c.(682-684)agT>agG	p.S228R	ZNF878_ENST00000547628.1_Missense_Mutation_p.S181R|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000476474.1_RNA			C9JN71	ZN878_HUMAN	zinc finger protein 878	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						AACTGGGAAAACTGAATGCTT	0.403													4	223					0	0	1	0	0	C	12155673	A	C	12155673	3	2	202	1	0	0	0	0	1	0	0	0	18239	40	2	5	1056	5	ZNF878	19	12155673	Missense_Mutation	SNP	A	TCGA-HC-8266-01A-11D-2260-08		12155673	46973310	37	9496											
KRTAP19-6	337973	broad.mit.edu	37	chr21	31914086	31914086	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcctccacagccacagccatAgcccagaccaccaaagcctc	12	3	6	20	0	0	1	0	0	0	1	2	1	1	1	8	0	4	0	8	0	2	1			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr21:31914086A>T	ENST00000334046.5	-	1	97	c.67T>A	c.(67-69)Tat>Aat	p.Y23N		NM_181612.2	NP_853643.1	Q3LI70	KR196_HUMAN	keratin associated protein 19-6	23						intermediate filament				breast(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	9						CCACAGCCATAGCCCAGACCA	0.522													11	160					0	0	1	0	0	T	31914086	A	T	31914086	3	4	202	1	0	0	0	0	1	0	0	0	8576	420	15	5	113	5	KRTAP19-6	21	31914086	Missense_Mutation	SNP	A	TCGA-HC-8266-01A-11D-2260-08		31914086	16215809	38	9497											
FBLN1	2192	broad.mit.edu	37	chr22	45958914	45958914	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgcggtggttttccgcatggGcccctccagtgctgtccccg	2	10	13	16	4	0	0	0	0	0	0	3	0	3	0	6	3	1	3	6	3	0	2			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chr22:45958914G>T	ENST00000402984.3	+	16	2037	c.1934G>T	c.(1933-1935)gGc>gTc	p.G645V	FBLN1_ENST00000348697.2_Intron|FBLN1_ENST00000327858.6_Intron|FBLN1_ENST00000262722.7_Missense_Mutation_p.G607V|FBLN1_ENST00000442170.2_Intron			P23142	FBLN1_HUMAN	fibulin 1	620					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)		TTCCGCATGGGCCCCTCCAGT	0.617													10	98					7.48243e-07	8.55135e-07	1	1	0	T	45958914	G	T	45958914	3	4	202	1	0	0	0	0	1	0	0	0	5731	1203	42	4	1886	4	FBLN1	22	45958914	Missense_Mutation	SNP	G	TCGA-HC-8266-01A-11D-2260-08		45958914	5345652	39	9498											
HMGB3	3149	broad.mit.edu	37	chrX	150156360	150156360	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagaggaggaggaagaagaGgaggaggaggaggaggagga	17	0	24	0	0	0	3	0	0	0	3	0	14	0	13	0	10	0	0	0	10	3	0			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443													3	28					0	0	1	0	0	A	150156360	G	A	150156360	2	1	202	1	0	0	0	0	0	0	0	1	7268	991	35	2		2	HMGB3	23	150156360	Silent	SNP	G	TCGA-HC-8266-01A-11D-2260-08		150156360	5114200	40	9499											
DDX3Y	8653	broad.mit.edu	37	chrY	15023762	15023762	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttattgaaggattccatgatAaagacagttcaggttggagt	13	13	11	4	0	1	3	1	2	0	1	2	5	2	5	1	3	0	2	1	3	4	6			TCGA-HC-8266-01A-11D-2260-08	TCGA-HC-8266-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79d05b35-8616-4147-af78-8bf33fa45499	ef3312fd-0ef1-4d54-9cea-4bf59a6ebf85	g.chrY:15023762A>G	ENST00000336079.3	+	4	269	c.163A>G	c.(163-165)Aaa>Gaa	p.K55E	DDX3Y_ENST00000360160.4_Missense_Mutation_p.K55E	NM_001122665.1|NM_004660.3	NP_001116137.1|NP_004651.2	O15523	DDX3Y_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked	55						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|RNA binding			kidney(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	5						ATTCCATGATAAAGACAGTTC	0.373													4	27					0	0	1	0	0	G	15023762	A	G	15023762	3	3	202	1	0	0	0	0	1	0	0	0	4382	363	13	3	177	3	DDX3Y	24	15023762	Missense_Mutation	SNP	A	TCGA-HC-8266-01A-11D-2260-08		15023762	44349804	41	9500											
MTOR	2475	broad.mit.edu	37	chr1	11210249	11210249	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctcatcattaaccagggTccacttttcacagcactgct	9	12	7	13	0	3	0	3	0	1	0	5	0	4	0	2	2	3	2	2	2	1	3			TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr1:11210249T>C	ENST00000361445.4	-	31	4580	c.4504A>G	c.(4504-4506)Acc>Gcc	p.T1502A		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1502	FAT.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						TTAACCAGGGTCCACTTTTCA	0.478													5	21					0	0	1	0	0	C	11210249	T	C	11210249	3	2	203	1	0	0	0	0	1	0	0	0	10002	1667	58	3	3257	3	MTOR	1	11210249	Missense_Mutation	SNP	T	TCGA-HC-A48F-01A-11D-A257-08		11210249	238040372	1	9501											
MAD2L2	10459	broad.mit.edu	37	chr1	11736124	11736124	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggggttgtggtccaggaCggcatcgcacacgctgatct	6	9	16	10	3	1	1	0	1	1	0	3	2	2	2	1	6	0	4	1	6	0	1			TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr1:11736124C>T	ENST00000235310.3	-	8	1334	c.406G>A	c.(406-408)Gtc>Atc	p.V136I	MAD2L2_ENST00000376667.3_Missense_Mutation_p.V136I|MAD2L2_ENST00000376669.5_Missense_Mutation_p.V149I|MAD2L2_ENST00000376692.4_Missense_Mutation_p.V136I|MAD2L2_ENST00000376672.1_Missense_Mutation_p.V149I			Q9UI95	MD2L2_HUMAN	MAD2 mitotic arrest deficient-like 2 (yeast)	136	HORMA.|Mediates interaction with REV1 and REV3L and homodimerization.				cell division|DNA damage response, signal transduction resulting in transcription|double-strand break repair|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription, DNA-dependent|regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleoplasm|spindle|zeta DNA polymerase complex	JUN kinase binding			kidney(1)|large_intestine(1)|lung(2)|ovary(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGGTCCAGGACGGCATCGCAC	0.582								DNA polymerases (catalytic subunits)					6	26					0	0	1	0	0	T	11736124	C	T	11736124	3	4	203	1	0	0	0	0	1	0	0	0	9196	536	19	1	245	1	MAD2L2	1	11736124	Missense_Mutation	SNP	C	TCGA-HC-A48F-01A-11D-A257-08	525875	11736124	237514497	2	9502											
CTH	1491	broad.mit.edu	37	chr1	70877212	70877213	+	Frame_Shift_Ins	INS	-	-	C																															ggacctccagggctgtagtgINSccccccatctcactgtccac																										TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr1:70877212_70877213insC	ENST00000411986.2	+	1	312_313	c.114_115insC	c.(112-117)gtccccfs	p.VP38fs	CTH_ENST00000370938.3_Frame_Shift_Ins_p.VP38fs|CTH_ENST00000346806.2_Frame_Shift_Ins_p.VP38fs|CTH_ENST00000464926.1_3'UTR	NM_001190463.1	NP_001177392.1	P32929	CGL_HUMAN	cystathionase (cystathionine gamma-lyase)	38					cysteine biosynthetic process|hydrogen sulfide biosynthetic process|protein homotetramerization|protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine	cytoplasm|nucleus	cystathionine gamma-lyase activity|L-cysteine desulfhydrase activity|pyridoxal phosphate binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	GGGCTGTAGTGCCCCCCATCTC	0.609													22	33	---	---	---	---						C	70877213	-	C	70877212	7	5	203	1	0	1	1	0	0	0	0	0	4033	1306	46	0	116	0	CTH	1	70877212	Frame_Shift_Ins	INS	-	TCGA-HC-A48F-01A-11D-A257-08	59141088	70877212	178373409	3	9503											
LPHN2	23266	broad.mit.edu	37	chr1	82417719	82417719	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccagtgtttgctggggatGtaagttcttcagtgagattg	7	14	15	5	0	2	1	1	1	1	1	2	3	2	2	1	3	1	4	1	3	1	5			TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr1:82417719G>A	ENST00000370728.1	+	11	2320	c.1675G>A	c.(1675-1677)Gta>Ata	p.V559I	LPHN2_ENST00000394879.1_Missense_Mutation_p.V559I|LPHN2_ENST00000271029.4_Missense_Mutation_p.V559I|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000319517.6_Missense_Mutation_p.V559I|LPHN2_ENST00000370730.1_Missense_Mutation_p.V559I|LPHN2_ENST00000370721.1_Missense_Mutation_p.V497I|LPHN2_ENST00000370727.1_Missense_Mutation_p.V559I|LPHN2_ENST00000370723.1_Missense_Mutation_p.V559I|LPHN2_ENST00000335786.5_Missense_Mutation_p.V559I|LPHN2_ENST00000370713.1_Missense_Mutation_p.V559I|LPHN2_ENST00000370725.1_Missense_Mutation_p.V559I|LPHN2_ENST00000370715.1_Missense_Mutation_p.V559I|LPHN2_ENST00000359929.3_Missense_Mutation_p.V559I|LPHN2_ENST00000370717.2_Missense_Mutation_p.V559I			O95490	LPHN2_HUMAN	latrophilin 2	559					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TGCTGGGGATGTAAGTTCTTC	0.433													30	41					0	0	1	0	0	A	82417719	G	A	82417719	3	1	203	1	0	0	0	0	1	0	0	0	8961	1377	48	2	1701	2	LPHN2	1	82417719	Missense_Mutation	SNP	G	TCGA-HC-A48F-01A-11D-A257-08	11540507	82417719	166832902	4	9504											
MRPS25	64432	broad.mit.edu	37	chr3	15106611	15106611	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcgtgttgtaattcactgTcatgaccttcacggagtcct	8	14	9	10	2	3	1	3	1	0	0	4	2	4	2	2	1	1	2	2	1	1	4			TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr3:15106611T>C	ENST00000253686.2	-	1	231	c.91A>G	c.(91-93)Aca>Gca	p.T31A	MRPS25_ENST00000449354.2_Missense_Mutation_p.T31A|MRPS25_ENST00000444840.2_Missense_Mutation_p.T31A	NM_022497.3	NP_071942.1	P82663	RT25_HUMAN	mitochondrial ribosomal protein S25	31					translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			large_intestine(1)|lung(1)	2						TAATTCACTGTCATGACCTTC	0.647													6	10					0	0	1	0	0	C	15106611	T	C	15106611	3	2	203	1	0	0	0	0	1	0	0	0	9885	1667	58	3	446	3	MRPS25	3	15106611	Missense_Mutation	SNP	T	TCGA-HC-A48F-01A-11D-A257-08		15106611	182915819	5	9505											
ZBBX	79740	broad.mit.edu	37	chr3	166960306	166960306	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacttacctcaattcctcaaCtccacagggacccctcacat	12	9	3	17	0	3	0	3	0	0	0	5	1	5	1	5	1	3	0	5	1	4	2			TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr3:166960306C>A	ENST00000392766.2	-	20	2603	c.2263G>T	c.(2263-2265)Gtt>Ttt	p.V755F	ZBBX_ENST00000392764.1_Missense_Mutation_p.V726F|ZBBX_ENST00000392767.2_Missense_Mutation_p.V755F|ZBBX_ENST00000455345.2_Missense_Mutation_p.V794F|ZBBX_ENST00000307529.5_Missense_Mutation_p.V794F	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	755						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						AATTCCTCAACTCCACAGGGA	0.358													16	25					6.72482e-11	7.14513e-11	1	1	0	A	166960306	C	A	166960306	3	1	203	1	0	0	0	0	1	0	0	0	17576	565	20	4	147	4	ZBBX	3	166960306	Missense_Mutation	SNP	C	TCGA-HC-A48F-01A-11D-A257-08	151853695	166960306	31062124	6	9506											
TNIK	23043	broad.mit.edu	37	chr3	170805169	170805169	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgggaatgggttgagaCgcgccccagtccctcagtcg	6	8	13	14	3	1	1	1	1	0	1	4	3	3	2	4	2	0	1	4	2	1	1			TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr3:170805169C>T	ENST00000436636.2	-	24	3192	c.2848G>A	c.(2848-2850)Gtc>Atc	p.V950I	TNIK_ENST00000357327.5_Missense_Mutation_p.V921I|TNIK_ENST00000488470.1_Missense_Mutation_p.V895I|TNIK_ENST00000475336.1_Missense_Mutation_p.V858I|TNIK_ENST00000470834.1_Missense_Mutation_p.V913I|TNIK_ENST00000538048.1_Missense_Mutation_p.V902I|TNIK_ENST00000460047.1_Missense_Mutation_p.V887I|TNIK_ENST00000284483.8_Missense_Mutation_p.V942I|TNIK_ENST00000369326.5_Missense_Mutation_p.V928I|TNIK_ENST00000341852.6_Missense_Mutation_p.V866I	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	950	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TGGGTTGAGACGCGCCCCAGT	0.572													41	57					0	0	1	0	0	T	170805169	C	T	170805169	3	4	203	1	0	0	0	0	1	0	0	0	16373	536	19	1	1274	1	TNIK	3	170805169	Missense_Mutation	SNP	C	TCGA-HC-A48F-01A-11D-A257-08	3844863	170805169	27217261	7	9507											
PDZD2	23037	broad.mit.edu	37	chr5	32089965	32089965	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctctatcgccaggtcgcAgaatcatccacaagtcatcc	11	8	8	14	2	3	1	2	0	1	1	7	1	5	1	3	2	0	2	3	2	3	1			TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr5:32089965A>G	ENST00000438447.1	+	20	6799	c.6411A>G	c.(6409-6411)gcA>gcG	p.A2137A	PDZD2_ENST00000282493.3_Silent_p.A2137A			O15018	PDZD2_HUMAN	PDZ domain containing 2	2137					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GCCAGGTCGCAGAATCATCCA	0.542													38	57					0	0	1	0	0	G	32089965	A	G	32089965	2	3	203	1	0	0	0	0	0	0	0	1	11748	175	7	3		3	PDZD2	5	32089965	Silent	SNP	A	TCGA-HC-A48F-01A-11D-A257-08		32089965	148825295	8	9508											
FTMT	94033	broad.mit.edu	37	chr5	121188192	121188192	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtcgttgctggaattgcaCgctctagcctcagataaagg	10	10	11	10	2	2	1	1	0	1	1	3	2	2	2	1	2	3	4	1	2	4	4			TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr5:121188192C>T	ENST00000321339.1	+	1	543	c.534C>T	c.(532-534)caC>caT	p.H178H		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	178	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity	p.H178H(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		TGGAATTGCACGCTCTAGCCT	0.507													68	24					0	0	1	0	0	T	121188192	C	T	121188192	2	4	203	1	0	0	0	0	0	0	0	1	6120	535	19	1		1	FTMT	5	121188192	Silent	SNP	C	TCGA-HC-A48F-01A-11D-A257-08	89098227	121188192	59727068	9	9509											
SHPRH	257218	broad.mit.edu	37	chr6	146264543	146264543	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccacatatacactcaaaGcggtaatcagaggtgttaaa	16	9	7	9	1	3	1	3	0	0	1	3	1	3	1	1	2	2	2	1	2	6	4			TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr6:146264543G>A	ENST00000367503.3	-	9	2372	c.1974C>T	c.(1972-1974)cgC>cgT	p.R658R	SHPRH_ENST00000438092.2_Silent_p.R658R|SHPRH_ENST00000367505.2_Silent_p.R658R|SHPRH_ENST00000275233.7_Silent_p.R658R	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	658					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TACACTCAAAGCGGTAATCAG	0.418													41	65					0	0	1	0	0	A	146264543	G	A	146264543	2	1	203	1	0	0	0	0	0	0	0	1	14346	958	34	2		2	SHPRH	6	146264543	Silent	SNP	G	TCGA-HC-A48F-01A-11D-A257-08		146264543	24850524	10	9510											
EPHA1	2041	broad.mit.edu	37	chr7	143095499	143095499	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtcagctctagttgcctcGgttctttcttcaccagtctc	5	15	8	13	1	6	0	2	0	4	0	8	0	6	0	2	2	2	3	2	2	1	5			TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr7:143095499G>C	ENST00000275815.3	-	7	1465	c.1379C>G	c.(1378-1380)cCg>cGg	p.P460R		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	460	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				TAGTTGCCTCGGTTCTTTCTT	0.552													12	62					0	0	1	0	0	C	143095499	G	C	143095499	3	2	203	1	0	0	0	0	1	0	0	0	5193	1116	39	4	1599	4	EPHA1	7	143095499	Missense_Mutation	SNP	G	TCGA-HC-A48F-01A-11D-A257-08		143095499	16043164	11	9511											
OR2A12	346525	broad.mit.edu	37	chr7	143792959	143792959	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggggcttttctttggcagCgccattgtcatgtacatggc	5	14	13	9	1	2	0	1	0	1	0	2	0	2	0	1	4	2	3	1	4	1	5			TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr7:143792959C>T	ENST00000408949.2	+	1	819	c.759C>T	c.(757-759)agC>agT	p.S253S		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					TCTTTGGCAGCGCCATTGTCA	0.562													124	121					0	0	1	0	0	T	143792959	C	T	143792959	2	4	203	1	0	0	0	0	0	0	0	1	11023	767	27	1		1	OR2A12	7	143792959	Silent	SNP	C	TCGA-HC-A48F-01A-11D-A257-08	697460	143792959	15345704	12	9512											
GIMAP5	55340	broad.mit.edu	37	chr7	150439591	150439591	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctggtgatccagctggggCgtttcactgctcaggacaca	7	11	12	11	1	3	1	2	1	1	0	4	2	4	2	1	4	2	3	1	4	0	2			TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr7:150439591C>T	ENST00000358647.3	+	3	731	c.364C>T	c.(364-366)Cgt>Tgt	p.R122C	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2			GTPase, IMAP family member 5									p.R122C(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCAGCTGGGGCGTTTCACTGC	0.582													78	80					0	0	1	0	0	T	150439591	C	T	150439591	3	4	203	1	0	0	0	0	1	0	0	0	6424	768	27	1	370	1	GIMAP5	7	150439591	Missense_Mutation	SNP	C	TCGA-HC-A48F-01A-11D-A257-08	6646632	150439591	8699072	13	9513											
GTF2E2	2961	broad.mit.edu	37	chr8	30436473	30436473	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatgtcagagtaatccttcaGcactccagccaagtgttcgt	11	11	8	11	1	2	1	2	0	0	1	5	1	4	1	3	0	2	3	3	0	3	3			TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr8:30436473G>A	ENST00000355904.4	-	8	1123	c.841C>T	c.(841-843)Ctg>Ttg	p.L281L		NM_002095.4	NP_002086.1	P29084	T2EB_HUMAN	general transcription factor IIE, polypeptide 2, beta 34kDa	281					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIE complex	DNA binding|protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)		TAATCCTTCAGCACTCCAGCC	0.433													33	7					0	0	1	0	0	A	30436473	G	A	30436473	2	1	203	1	0	0	0	0	0	0	0	1	6898	962	34	2		2	GTF2E2	8	30436473	Silent	SNP	G	TCGA-HC-A48F-01A-11D-A257-08		30436473	115927549	14	9514											
TAF1L	138474	broad.mit.edu	37	chr9	32632097	32632097	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatctctgtgattgtttcCtgatgctgctgagcctgcta	6	16	9	10	0	2	3	1	3	1	0	4	3	3	3	2	0	4	4	2	0	1	3			TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr9:32632097C>T	ENST00000242310.4	-	1	3570	c.3481G>A	c.(3481-3483)Gga>Aga	p.G1161R		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1161					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TGATTGTTTCCTGATGCTGCT	0.493													10	84					0	0	1	0	0	T	32632097	C	T	32632097	3	4	203	1	0	0	0	0	1	0	0	0	15580	690	24	2	2003	2	TAF1L	9	32632097	Missense_Mutation	SNP	C	TCGA-HC-A48F-01A-11D-A257-08		32632097	108581334	15	9515											
ZBTB16	7704	broad.mit.edu	37	chr11	114113039	114113039	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccacacggctctcaaacGccacctgcgctcacatacag	11	5	7	18	3	2	0	2	0	1	0	3	0	2	0	3	1	4	2	3	1	2	1			TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr11:114113039G>A	ENST00000335953.4	+	5	1984	c.1604G>A	c.(1603-1605)cGc>cAc	p.R535H	RP11-64D24.2_ENST00000544925.1_RNA|ZBTB16_ENST00000535379.1_3'UTR|ZBTB16_ENST00000392996.2_Missense_Mutation_p.R535H	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	535					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding	p.R535H(1)		central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		GCTCTCAAACGCCACCTGCGC	0.597													20	28					0	0	1	0	0	A	114113039	G	A	114113039	3	1	203	1	0	0	0	0	1	0	0	0	17585	1087	38	1	1618	1	ZBTB16	11	114113039	Missense_Mutation	SNP	G	TCGA-HC-A48F-01A-11D-A257-08		114113039	20893477	16	9516											
GALNT8	26290	broad.mit.edu	37	chr12	4874639	4874639	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgacagaccctggcaaggCggagaagcccaccttagaac	12	4	11	14	1	0	4	0	1	0	3	0	5	0	4	4	3	2	1	4	3	4	1			TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr12:4874639C>T	ENST00000252318.2	+	10	2025	c.1688C>T	c.(1687-1689)gCg>gTg	p.A563V		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	563	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.A563V(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						CCTGGCAAGGCGGAGAAGCCC	0.463													15	5					0	0	1	0	0	T	4874639	C	T	4874639	3	4	203	1	0	0	0	0	1	0	0	0	6259	768	27	1	1726	1	GALNT8	12	4874639	Missense_Mutation	SNP	C	TCGA-HC-A48F-01A-11D-A257-08		4874639	128977256	17	9517											
POLE	5426	broad.mit.edu	37	chr12	133226399	133226399	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggggctgctgggtgaggcAgctttacgaggccgaagtcc	7	7	17	10	2	0	1	0	1	0	0	1	3	1	1	2	5	3	4	2	5	2	2			TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr12:133226399A>G	ENST00000320574.5	-	30	3702	c.3659T>C	c.(3658-3660)cTg>cCg	p.L1220P	POLE_ENST00000535270.1_Missense_Mutation_p.L1193P	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1220					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		TGGGTGAGGCAGCTTTACGAG	0.602								DNA polymerases (catalytic subunits)					8	61					0	0	1	0	0	G	133226399	A	G	133226399	3	3	203	1	0	0	0	0	1	0	0	0	12244	188	7	3	3281	3	POLE	12	133226399	Missense_Mutation	SNP	A	TCGA-HC-A48F-01A-11D-A257-08	128351760	133226399	625496	18	9518											
ALPK3	57538	broad.mit.edu	37	chr15	85403130	85403130	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgacttctgcctcagcccTgagggtgagtgtgccccgcg	5	8	13	15	3	2	2	1	2	1	0	2	3	2	2	5	1	3	0	5	1	0	1			TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr15:85403130T>G	ENST00000258888.5	+	8	4862	c.4695T>G	c.(4693-4695)ccT>ccG	p.P1565P		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1565					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GCCTCAGCCCTGAGGGTGAGT	0.652													50	62					0	0	1	0	0	G	85403130	T	G	85403130	2	3	203	1	0	0	0	0	0	0	0	1	542	1567	55	5		5	ALPK3	15	85403130	Silent	SNP	T	TCGA-HC-A48F-01A-11D-A257-08		85403130	17128262	19	9519											
TP53	7157	broad.mit.edu	37	chr17	7578509	7578509	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacccacagctgcacagggcAggtcttggccagttggcaaa	11	6	12	12	0	1	0	0	0	1	0	1	0	1	0	2	4	3	5	2	4	2	2			TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr17:7578509A>C	ENST00000420246.2	-	5	553	c.421T>G	c.(421-423)Tgc>Ggc	p.C141G	TP53_ENST00000269305.4_Missense_Mutation_p.C141G|TP53_ENST00000445888.2_Missense_Mutation_p.C141G|TP53_ENST00000455263.2_Missense_Mutation_p.C141G|TP53_ENST00000359597.4_Missense_Mutation_p.C141G|TP53_ENST00000413465.2_Missense_Mutation_p.C141G	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	141	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> A (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C141R(13)|p.0?(8)|p.A138_P142delAKTCP(4)|p.N131fs*27(2)|p.C141S(2)|p.C141fs*8(2)|p.L137_W146del10(1)|p.K139fs*4(1)|p.A45_P49delAKTCP(1)|p.C141fs*34(1)|p.C141fs*30(1)|p.C9R(1)|p.A6_P10delAKTCP(1)|p.A138_V143delAKTCPV(1)|p.C48R(1)|p.C141fs*29(1)|p.C141A(1)|p.C141G(1)|p.K139_C141>N(1)|p.K139fs*29(1)|p.T140fs*28(1)|p.C141fs*5(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)		TGCACAGGGCAGGTCTTGGCC	0.567		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)			21	16					0	0	1	0	0	C	7578509	A	C	7578509	3	2	203	1	0	0	0	0	1	0	0	0	16442	188	7	5	877	5	TP53	17	7578509	Missense_Mutation	SNP	A	TCGA-HC-A48F-01A-11D-A257-08		7578509	73616701	20	9520											
CPT1C	126129	broad.mit.edu	37	chr19	50214114	50214114	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggaggacaaagagaagacGgtgggtgcagccctcgcttg	11	6	16	8	2	0	2	0	0	0	2	1	5	0	4	1	4	2	2	1	4	2	1			TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr19:50214114G>A	ENST00000392518.4	+	16	2238	c.1866_splice	c.e16+1	p.T622_splice	CPT1C_ENST00000354199.5_Splice_Site_p.T622_splice|CPT1C_ENST00000323446.5_Splice_Site_p.T622_splice|CPT1C_ENST00000405931.2_Splice_Site_p.T611_splice|CPT1C_ENST00000598293.1_Splice_Site_p.T622_splice	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	622					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		AAGAGAAGACGGTGGGTGCAG	0.567													23	32					0	0	1	0	0	A	50214114	G	A	50214114	5	1	203	1	0	0	0	0	0	0	1	0	3856	1130	39	1	1920	1	CPT1C	19	50214114	Splice_Site	SNP	G	TCGA-HC-A48F-01A-11D-A257-08		50214114	8914869	21	9521											
SLA2	84174	broad.mit.edu	37	chr20	35261966	35261966	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgggagactttggccacGtggacgctggggatgttata	8	10	15	8	2	0	1	0	0	0	1	0	4	0	3	2	5	0	2	2	5	2	3			TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr20:35261966G>A	ENST00000262866.4	-	4	680	c.258C>T	c.(256-258)caC>caT	p.H86H	SLA2_ENST00000360672.2_Silent_p.H86H	NM_032214.3|NM_175077.2	NP_115590.1|NP_778252.1	Q9H6Q3	SLAP2_HUMAN	Src-like-adaptor 2	86	SH3.				antigen receptor-mediated signaling pathway|B cell mediated immunity|intracellular receptor mediated signaling pathway|negative regulation of B cell activation|negative regulation of calcium-mediated signaling|negative regulation of transcription from RNA polymerase II promoter|T cell activation	cytoplasmic membrane-bounded vesicle|endosome membrane|plasma membrane	protein N-terminus binding|SH3/SH2 adaptor activity			endometrium(1)|lung(2)|skin(2)	5	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				CTTTGGCCACGTGGACGCTGG	0.587													38	44					0	0	1	0	0	A	35261966	G	A	35261966	2	1	203	1	0	0	0	0	0	0	0	1	14419	1136	40	1		1	SLA2	20	35261966	Silent	SNP	G	TCGA-HC-A48F-01A-11D-A257-08		35261966	27763554	22	9522											
CDH4	1002	broad.mit.edu	37	chr20	60485631	60485631	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcagcgtccgcacagaccccGtaaccaacgagggcatggtc	10	5	11	15	4	1	1	1	0	0	1	3	2	2	1	4	2	3	3	4	2	2	1	rs143730774		TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr20:60485631G>A	ENST00000360469.5	+	9	1430	c.1342G>A	c.(1342-1344)Gta>Ata	p.V448I	CDH4_ENST00000543233.1_Missense_Mutation_p.V374I	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	448	Cadherin 3.				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)			CACAGACCCCGTAACCAACGA	0.597													20	33					0	0	1	0	0	A	60485631	G	A	60485631	3	1	203	1	0	0	0	0	1	0	0	0	3134	1145	40	1	1376	1	CDH4	20	60485631	Missense_Mutation	SNP	G	TCGA-HC-A48F-01A-11D-A257-08	25223665	60485631	2539889	23	9523											
PI4KA	5297	broad.mit.edu	37	chr22	21173958	21173958	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggacacactgctggtttTcctcttcagggtaccctcct	5	13	9	14	0	2	0	1	0	1	0	4	1	4	1	3	3	2	4	3	3	1	4			TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr22:21173958T>C	ENST00000255882.6	-	6	846	c.760A>G	c.(760-762)Aaa>Gaa	p.K254E	PI4KA_ENST00000572273.1_Missense_Mutation_p.K196E	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	196					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CTGCTGGTTTTCCTCTTCAGG	0.542													53	55					0	0	1	0	0	C	21173958	T	C	21173958	3	2	203	1	0	0	0	0	1	0	0	0	11921	1792	62	3	5748	3	PI4KA	22	21173958	Missense_Mutation	SNP	T	TCGA-HC-A48F-01A-11D-A257-08		21173958	30130608	24	9524											
APOL5	80831	broad.mit.edu	37	chr22	36123054	36123054	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgagcagcttcctgcagagCtggaagcacctggaggatgg	10	7	15	9	0	0	2	0	1	0	1	1	5	1	5	2	4	5	5	2	4	1	1			TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chr22:36123054C>T	ENST00000249044.2	+	3	939	c.939C>T	c.(937-939)agC>agT	p.S313S		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	313					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						TCCTGCAGAGCTGGAAGCACC	0.582													32	57					0	0	1	0	0	T	36123054	C	T	36123054	2	4	203	1	0	0	0	0	0	0	0	1	806	796	28	2		2	APOL5	22	36123054	Silent	SNP	C	TCGA-HC-A48F-01A-11D-A257-08	14949096	36123054	15181512	25	9525											
ZXDB	158586	broad.mit.edu	37	chrX	57618726	57618728	+	In_Frame_Del	DEL	GCG	GCG	-																															gccgaggaccgatcaacctaGcggcggcggcggcggcggcg																										TCGA-HC-A48F-01A-11D-A257-08	TCGA-HC-A48F-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7030b035-d4d9-42fc-ba42-79f3f9d30308	609e8c56-485a-4a1d-aa5d-ab4781c39cc7	g.chrX:57618726_57618728delGCG	ENST00000374888.1	+	1	458_460	c.245_247delGCG	c.(244-249)agc>a	p.SG82del		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	82					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.G89delG(2)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						GATCAACCTAgcggcggcggcgg	0.759													4	7	---	---	---	---						-	57618728	GCG	-	57618726	7	5	203	1	0	1	0	1	0	0	0	0	18291	971	34	0	247	0	ZXDB	23	57618726	In_Frame_Del	DEL	GCG	TCGA-HC-A48F-01A-11D-A257-08		57618726	97651834	26	9526											
VPS13D	55187	broad.mit.edu	37	chr1	12374350	12374350	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgctaagaacagcagcaccAcccaagggtccattcagatt	13	6	8	14	1	1	2	1	0	0	2	2	2	2	2	4	1	3	3	4	1	3	3			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:12374350A>C	ENST00000358136.3	+	30	7244	c.7114A>C	c.(7114-7116)Acc>Ccc	p.T2372P	VPS13D_ENST00000356315.4_Missense_Mutation_p.T2372P	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	2372					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CAGCAGCACCACCCAAGGGTC	0.502													3	12					0	0	1	0	0	C	12374350	A	C	12374350	3	2	204	1	0	0	0	0	1	0	0	0	17252	159	6	5	7228	5	VPS13D	1	12374350	Missense_Mutation	SNP	A	TCGA-HC-A4ZV-01A-11D-A26M-08		12374350	236876271	1	9527											
PADI1	29943	broad.mit.edu	37	chr1	17570695	17570695	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccactgtggcaccaacgtgcGcaggaagccctttcccttca	8	8	9	16	2	1	0	1	0	0	0	2	1	2	1	4	2	3	2	4	2	2	2			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:17570695G>A	ENST00000375471.4	+	16	2041	c.1949G>A	c.(1948-1950)cGc>cAc	p.R650H	PADI1_ENST00000413717.2_Missense_Mutation_p.R165H|PADI1_ENST00000537499.1_Missense_Mutation_p.R207H|PADI1_ENST00000460293.1_3'UTR|PADI1_ENST00000536552.1_Missense_Mutation_p.R121H	NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	650					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	ACCAACGTGCGCAGGAAGCCC	0.607													15	32					0	0	1	0	0	A	17570695	G	A	17570695	3	1	204	1	0	0	0	0	1	0	0	0	11424	1087	38	1	2011	1	PADI1	1	17570695	Missense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	5196345	17570695	231679926	2	9528											
PADI4	23569	broad.mit.edu	37	chr1	17668541	17668541	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacatggacttctacgtggaGgccctcgctttcccggacac	8	9	10	14	3	1	0	0	0	1	0	3	3	2	3	2	4	2	1	2	4	2	3			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:17668541G>C	ENST00000375448.4	+	7	782	c.756G>C	c.(754-756)gaG>gaC	p.E252D	AC004824.2_ENST00000602074.1_Intron	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	252					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	TCTACGTGGAGGCCCTCGCTT	0.602													25	39					0	0	1	0	0	C	17668541	G	C	17668541	3	2	204	1	0	0	0	0	1	0	0	0	11427	991	35	4	782	4	PADI4	1	17668541	Missense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	97846	17668541	231582080	3	9529											
MRTO4	51154	broad.mit.edu	37	chr1	19584333	19584333	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcttttcccttaggtggttCacgaaatacacagaaatgga	12	12	8	9	1	2	1	1	0	1	1	3	3	3	2	1	3	1	1	1	3	4	5			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:19584333C>G	ENST00000330263.4	+	6	645	c.348C>G	c.(346-348)ttC>ttG	p.F116L		NM_016183.3	NP_057267.2	Q9UKD2	MRT4_HUMAN	mRNA turnover 4 homolog (S. cerevisiae)	116					ribosome biogenesis	nuclear membrane|nucleolus				breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TTAGGTGGTTCACGAAATACA	0.592													25	55					0	0	1	0	0	G	19584333	C	G	19584333	3	3	204	1	0	0	0	0	1	0	0	0	9901	825	29	4	370	4	MRTO4	1	19584333	Missense_Mutation	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	1915792	19584333	229666288	4	9530											
WASF2	10163	broad.mit.edu	37	chr1	27744831	27744831	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtattgtatgtttctaagaCaggcactgggagagagtttc	10	13	13	5	0	1	2	0	0	1	2	2	4	1	3	0	3	0	5	0	3	3	6			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:27744831C>G	ENST00000430629.2	-	4	573	c.358G>C	c.(358-360)Gtc>Ctc	p.V120L	WASF2_ENST00000536657.1_Missense_Mutation_p.V120L	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	120					actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger	actin cytoskeleton|lamellipodium	actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		GTTTCTAAGACAGGCACTGGG	0.458													16	27					0	0	1	0	0	G	27744831	C	G	27744831	3	3	204	1	0	0	0	0	1	0	0	0	17313	478	17	4	1162	4	WASF2	1	27744831	Missense_Mutation	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	8160498	27744831	221505790	5	9531											
RRAGC	64121	broad.mit.edu	37	chr1	39325295	39325295	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccggcgaggggcgtctcCtccgccccgtactgcaggga	4	6	15	16	5	1	0	0	0	1	0	3	2	2	1	5	4	3	2	5	4	1	1			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:39325295C>T	ENST00000373001.3	-	1	200	c.24G>A	c.(22-24)gaG>gaA	p.E8E		NM_022157.2	NP_071440.1	Q9HB90	RRAGC_HUMAN	Ras-related GTP binding C	8					apoptosis|cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|RNA splicing|small GTPase mediated signal transduction|transcription, DNA-dependent	lysosome|nucleus	GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)	10	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)				GGGGCGTCTCCTCCGCCCCGT	0.746													3	3					0	0	1	0	0	T	39325295	C	T	39325295	2	4	204	1	0	0	0	0	0	0	0	1	13726	680	24	2		2	RRAGC	1	39325295	Silent	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	11580464	39325295	209925326	6	9532											
KIAA0754	643314	broad.mit.edu	37	chr1	39877441	39877441	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctgcatcccaggatgcaGaaaatttactcgtaattagt	12	12	9	8	1	0	1	0	0	0	1	2	2	1	2	1	2	3	4	1	2	5	4			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:39877441G>T	ENST00000530275.1	+	1	1291	c.1096G>T	c.(1096-1098)Gaa>Taa	p.E366*	MACF1_ENST00000289893.4_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000567887.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	366										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCAGGATGCAGAAAATTTACT	0.393													10	17					1.58986e-06	1.7641e-06	1	1	0	T	39877441	G	T	39877441	4	4	204	1	0	0	0	0	0	1	0	0	8234	943	33	4	1506	4	KIAA0754	1	39877441	Nonsense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	552146	39877441	209373180	7	9533											
DMBX1	127343	broad.mit.edu	37	chr1	46976632	46976632	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttcaagaaccgccgggccaAgttccggaagaagcagcgta	12	5	13	11	4	1	2	1	0	0	2	2	3	2	3	4	2	3	4	4	2	6	3			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:46976632A>C	ENST00000371956.4	+	3	389	c.374A>C	c.(373-375)aAg>aCg	p.K125T	DMBX1_ENST00000360032.3_Missense_Mutation_p.K120T	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN	diencephalon/mesencephalon homeobox 1	125	Interacts with OXT2 and is required for repressor activity (By similarity).				brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					CGCCGGGCCAAGTTCCGGAAG	0.627													8	25					0	0	1	0	0	C	46976632	A	C	46976632	3	2	204	1	0	0	0	0	1	0	0	0	4606	72	3	5	384	5	DMBX1	1	46976632	Missense_Mutation	SNP	A	TCGA-HC-A4ZV-01A-11D-A26M-08	7099191	46976632	202273989	8	9534											
FOXD2	2306	broad.mit.edu	37	chr1	47904210	47904210	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccctactcgtacatcgcgCtcatcaccatggccatcctg	7	9	7	18	4	2	0	2	0	0	0	5	0	3	0	4	1	2	2	4	1	2	2			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:47904210C>G	ENST00000334793.5	+	1	2522	c.403C>G	c.(403-405)Ctc>Gtc	p.L135V		NM_004474.3	NP_004465.3	O60548	FOXD2_HUMAN	forkhead box D2	135					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			lung(4)	4				READ - Rectum adenocarcinoma(2;0.0908)		GTACATCGCGCTCATCACCAT	0.716													12	11					0	0	1	0	0	G	47904210	C	G	47904210	3	3	204	1	0	0	0	0	1	0	0	0	6030	797	28	4	405	4	FOXD2	1	47904210	Missense_Mutation	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	927578	47904210	201346411	9	9535											
MYSM1	114803	broad.mit.edu	37	chr1	59147849	59147849	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtgtaatttctgagcttgaAagtgtttcatcttgcttttc	8	19	8	6	0	3	2	1	2	2	0	4	2	3	2	0	0	2	4	0	0	2	7			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:59147849A>T	ENST00000472487.1	-	8	906	c.867T>A	c.(865-867)ctT>ctA	p.L289L	MYSM1_ENST00000493821.1_5'UTR	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	289					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					CTGAGCTTGAAAGTGTTTCAT	0.348													30	21					0	0	1	0	0	T	59147849	A	T	59147849	2	4	204	1	0	0	0	0	0	0	0	1	10149	1	1	5		5	MYSM1	1	59147849	Silent	SNP	A	TCGA-HC-A4ZV-01A-11D-A26M-08	11243639	59147849	190102772	10	9536											
SYDE2	84144	broad.mit.edu	37	chr1	85643927	85643927	+	Frame_Shift_Del	DEL	G	G	-																															gttctttcttgactgctgccGaaccacataatcgatacagg																										TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:85643927delG	ENST00000341460.5	-	4	2622	c.2573delC	c.(2572-2574)tgfs	p.S858fs		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	858	Rho-GAP.				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		GACTGCTGCCGAACCACATAA	0.373													2	4	---	---	---	---						-	85643927	G	-	85643927	7	5	204	1	0	1	0	1	0	0	0	0	15493	1059	37	0	1027	0	SYDE2	1	85643927	Frame_Shift_Del	DEL	G	TCGA-HC-A4ZV-01A-11D-A26M-08	26496078	85643927	163606694	11	9537											
DPH5	51611	broad.mit.edu	37	chr1	101487277	101487277	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttatctgcttcttgttccacTtcttctctatcagcaacaac	8	17	3	13	0	5	0	1	0	4	0	7	0	6	0	1	0	4	3	1	0	4	7			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:101487277T>C	ENST00000370109.3	-	3	292	c.180A>G	c.(178-180)gaA>gaG	p.E60E	DPH5_ENST00000488176.1_Silent_p.E60E|DPH5_ENST00000370105.3_5'UTR|DPH5_ENST00000342173.7_Silent_p.E60E	NM_001077394.1|NM_001077395.1|NM_015958.2	NP_001070862.1|NP_001070863.1|NP_057042.2	Q9H2P9	DPH5_HUMAN	diphthamide biosynthesis 5	60					peptidyl-diphthamide biosynthetic process from peptidyl-histidine		diphthine synthase activity			endometrium(2)|large_intestine(1)|lung(4)	7		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)		CTTGTTCCACTTCTTCTCTAT	0.368													11	16					0	0	1	0	0	C	101487277	T	C	101487277	2	2	204	1	0	0	0	0	0	0	0	1	4749	1606	56	3		3	DPH5	1	101487277	Silent	SNP	T	TCGA-HC-A4ZV-01A-11D-A26M-08	15843350	101487277	147763344	12	9538											
PSRC1	84722	broad.mit.edu	37	chr1	109824258	109824258	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caccctcttcatgttggaggGcctctttccagatgtagccc	6	12	9	14	0	3	1	1	0	2	1	4	2	4	2	4	2	1	2	4	2	1	4			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:109824258G>A	ENST00000438534.2	-	4	640	c.502C>T	c.(502-504)Ccc>Tcc	p.P168S	PSRC1_ENST00000409267.1_Missense_Mutation_p.P168S|PSRC1_ENST00000409138.2_Missense_Mutation_p.P168S|PSRC1_ENST00000369903.2_Missense_Mutation_p.P168S|PSRC1_ENST00000369904.3_Missense_Mutation_p.P168S|PSRC1_ENST00000369907.3_Missense_Mutation_p.P168S|PSRC1_ENST00000369909.2_Missense_Mutation_p.P168S	NM_001005290.3	NP_001005290.1	Q6PGN9	PSRC1_HUMAN	proline/serine-rich coiled-coil 1	168	4 X 4 AA repeats of P-X-X-P.				cell division|microtubule bundle formation|mitotic metaphase plate congression|negative regulation of cell growth|positive regulation of microtubule polymerization|positive regulation of transcription, DNA-dependent|regulation of mitotic spindle organization	cytosol|midbody|spindle pole	microtubule binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	7		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213)		ATGTTGGAGGGCCTCTTTCCA	0.567													19	35					0	0	1	0	0	A	109824258	G	A	109824258	3	1	204	1	0	0	0	0	1	0	0	0	12768	1203	42	2	580	2	PSRC1	1	109824258	Missense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	8336981	109824258	139426363	13	9539											
KCND3	3752	broad.mit.edu	37	chr1	112524830	112524830	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctggtgtgggggttctcGaaggcccgccacatggtctg	4	10	17	10	2	2	0	0	0	2	0	3	1	2	0	2	5	1	2	2	5	1	1	rs144600384	by1000genomes	TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:112524830G>T	ENST00000369697.1	-	1	588	c.519C>A	c.(517-519)ttC>ttA	p.F173L	KCND3_ENST00000302127.4_Missense_Mutation_p.F173L|KCND3_ENST00000315987.2_Missense_Mutation_p.F173L			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	173						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		GGGGGTTCTCGAAGGCCCGCC	0.617													3	34					1	1	1	1	0	T	112524830	G	T	112524830	3	4	204	1	0	0	0	0	1	0	0	0	8064	1049	37	4	1476	4	KCND3	1	112524830	Missense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	2700572	112524830	136725791	14	9540											
PEAR1	375033	broad.mit.edu	37	chr1	156877420	156877420	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agctgtgacgtgtcctgttcCcagggcacttctggcttctt	4	14	11	12	1	2	1	0	1	2	0	4	1	4	1	2	2	1	4	2	2	0	4			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:156877420C>T	ENST00000338302.3	+	8	888	c.663C>T	c.(661-663)tcC>tcT	p.S221S	PEAR1_ENST00000292357.7_Silent_p.S221S			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	221						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGTCCTGTTCCCAGGGCACTT	0.577													118	122					0	0	1	0	0	T	156877420	C	T	156877420	2	4	204	1	0	0	0	0	0	0	0	1	11759	610	22	2		2	PEAR1	1	156877420	Silent	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	44352590	156877420	92373201	15	9541											
F5	2153	broad.mit.edu	37	chr1	169483632	169483632	+	Silent	SNP	G	G	A																															ggaatgacacggataaacctGgaaatgattggggggttgaa																										TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:169483632G>A	ENST00000367796.3	-	25	6810	c.6609C>T	c.(6607-6609)tcC>tcT	p.S2203S	F5_ENST00000495481.1_5'UTR|F5_ENST00000367797.3_Silent_p.S2198S			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	2198	F5/8 type C 2.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GGATAAACCTGGAAATGATTG	0.348													10	22					0	0	1	0	0	A	169483632	G	A	169483632	2	1	204	1	0	0	0	0	0	0	0	1	5376	1335	47	2		2	F5	1	169483632	Silent	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	12606212	169483632	79766989	16	9542	50	2									
F5	2153	broad.mit.edu	37	chr1	169483633	169483633	+	Missense_Mutation	SNP	G	G	A																															gaatgacacggataaacctgGaaatgattggggggttgaaa																										TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:169483633G>A	ENST00000367796.3	-	25	6809	c.6608C>T	c.(6607-6609)tCc>tTc	p.S2203F	F5_ENST00000495481.1_5'UTR|F5_ENST00000367797.3_Missense_Mutation_p.S2198F			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	2198	F5/8 type C 2.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GATAAACCTGGAAATGATTGG	0.348													10	22					0	0	1	0	0	A	169483633	G	A	169483633	3	1	204	1	0	0	0	0	1	0	0	0	5376	1174	41	2	85	2	F5	1	169483633	Missense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	1	169483633	79766988	17	9543	50	2									
PIGR	5284	broad.mit.edu	37	chr1	207112706	207112706	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accagtacttccgggtgtgcCggttgacagaggtgggtggg	6	9	18	8	2	0	2	0	1	0	1	1	2	1	2	3	5	2	2	3	5	1	3			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:207112706C>T	ENST00000356495.4	-	3	329	c.146G>A	c.(145-147)cGg>cAg	p.R49Q		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	49	Ig-like V-type 1.					extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CCGGGTGTGCCGGTTGACAGA	0.567													30	25					0	0	1	0	0	T	207112706	C	T	207112706	3	4	204	1	0	0	0	0	1	0	0	0	11945	652	23	1	2184	1	PIGR	1	207112706	Missense_Mutation	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	37629073	207112706	42137915	18	9544											
GPR137B	7107	broad.mit.edu	37	chr1	236306076	236306076	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaccgtcgtctacaccgtgTtctacgcgctgctcttcgtg	4	13	9	15	6	4	0	1	0	3	0	6	0	4	0	2	0	3	3	2	0	2	4			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:236306076T>G	ENST00000366592.3	+	1	245	c.154T>G	c.(154-156)Ttc>Gtc	p.F52V	GPR137B_ENST00000366591.4_Missense_Mutation_p.F52V	NM_003272.3	NP_003263.1	O60478	G137B_HUMAN	G protein-coupled receptor 137B	52						integral to plasma membrane|membrane fraction				endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			CTACACCGTGTTCTACGCGCT	0.652													9	30					0	0	1	0	0	G	236306076	T	G	236306076	3	3	204	1	0	0	0	0	1	0	0	0	6686	1725	60	5	156	5	GPR137B	1	236306076	Missense_Mutation	SNP	T	TCGA-HC-A4ZV-01A-11D-A26M-08	29193370	236306076	12944545	19	9545											
RYR2	6262	broad.mit.edu	37	chr1	237756847	237756847	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgggctggattacatcagaTttccatcagtatgacacagg	11	11	11	8	0	2	2	2	1	0	1	3	3	3	3	1	3	1	2	1	3	2	3			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr1:237756847T>C	ENST00000366574.2	+	33	4664	c.4347T>C	c.(4345-4347)gaT>gaC	p.D1449D	RYR2_ENST00000542537.1_Silent_p.D1433D|RYR2_ENST00000360064.6_Silent_p.D1447D	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1449	4 X approximate repeats.|B30.2/SPRY 3.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTACATCAGATTTCCATCAGT	0.418													4	61					0	0	1	0	0	C	237756847	T	C	237756847	2	2	204	1	0	0	0	0	0	0	0	1	13821	1490	52	3		3	RYR2	1	237756847	Silent	SNP	T	TCGA-HC-A4ZV-01A-11D-A26M-08	1450771	237756847	11493774	20	9546											
TTC7A	57217	broad.mit.edu	37	chr2	47256512	47256512	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggccatcaccgagcacccTgagaacttcaagtgagtgcc	11	7	10	13	1	2	2	2	2	0	1	2	4	2	2	4	1	3	1	4	1	2	1			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr2:47256512T>A	ENST00000319190.5	+	15	2159	c.1791T>A	c.(1789-1791)ccT>ccA	p.P597P	TTC7A_ENST00000394850.2_Silent_p.P597P|TTC7A_ENST00000263737.6_Silent_p.P243P|TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000409245.1_Silent_p.P563P	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	597							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			CCGAGCACCCTGAGAACTTCA	0.622													24	47					0	0	1	0	0	A	47256512	T	A	47256512	2	1	204	1	0	0	0	0	0	0	0	1	16774	1567	55	5		5	TTC7A	2	47256512	Silent	SNP	T	TCGA-HC-A4ZV-01A-11D-A26M-08		47256512	195942861	21	9547											
HK2	3099	broad.mit.edu	37	chr2	75081432	75081432	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttcaggttgaccagtatCtctaccacatgcgcctctct	7	15	6	13	1	3	1	1	1	2	0	5	1	3	1	3	1	2	2	3	1	2	5			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr2:75081432C>A	ENST00000290573.2	+	2	676	c.76C>A	c.(76-78)Ctc>Atc	p.L26I	HK2_ENST00000409174.1_5'UTR	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	26	Regulatory.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						TGACCAGTATCTCTACCACAT	0.493													65	119					4.14589e-37	5.08814e-37	1	1	0	A	75081432	C	A	75081432	3	1	204	1	0	0	0	0	1	0	0	0	7232	913	32	4	82	4	HK2	2	75081432	Missense_Mutation	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	27824920	75081432	168117941	22	9548											
RNF149	284996	broad.mit.edu	37	chr2	101893716	101893716	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtgctaggagatgggtcctCcatgccgagagtcactcctg	7	10	13	11	1	1	2	1	0	0	2	4	4	4	2	4	2	2	1	4	2	1	1			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr2:101893716C>A	ENST00000295317.3	-	7	1294	c.1187G>T	c.(1186-1188)gGa>gTa	p.G396V		NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN	ring finger protein 149	396						integral to membrane	ligase activity|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						GATGGGTCCTCCATGCCGAGA	0.458													6	5					0.0293803	0.0301241	1	1	0	A	101893716	C	A	101893716	3	1	204	1	0	0	0	0	1	0	0	0	13502	855	30	4	19	4	RNF149	2	101893716	Missense_Mutation	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	26812284	101893716	141305657	23	9549											
KIF5C	3800	broad.mit.edu	37	chr2	149806898	149806898	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctttgggtgggaactgcaGaaccaccatcgtcatttgct	8	12	10	11	1	2	1	1	0	1	1	3	2	2	2	2	2	4	2	2	2	2	2			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr2:149806898G>A	ENST00000435030.1	+	10	1258	c.890G>A	c.(889-891)aGa>aAa	p.R297K	KIF5C_ENST00000397413.1_Missense_Mutation_p.R65K|KIF5C_ENST00000414838.2_Missense_Mutation_p.R202K|KIF5C_ENST00000464066.1_3'UTR			O60282	KIF5C_HUMAN	kinesin family member 5C	297	Kinesin-motor.|Microtubule-binding.				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		GGGAACTGCAGAACCACCATC	0.468													5	21					0	0	1	0	0	A	149806898	G	A	149806898	3	1	204	1	0	0	0	0	1	0	0	0	8349	942	33	2	850	2	KIF5C	2	149806898	Missense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	47913182	149806898	93392475	24	9550											
CACNB4	785	broad.mit.edu	37	chr2	152830186	152830186	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctatgaaaatacttacagcCtccgagtcttcaattccatg	12	13	5	11	1	3	1	1	1	2	0	5	2	5	1	3	0	3	0	3	0	6	5			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr2:152830186C>A	ENST00000360283.6	-	1	299	c.42G>T	c.(40-42)gaG>gaT	p.E14D	CACNB4_ENST00000201943.5_Intron|CACNB4_ENST00000534999.1_Missense_Mutation_p.E14D|CACNB4_ENST00000427385.1_Intron|CACNB4_ENST00000397327.2_De_novo_Start_InFrame|CACNB4_ENST00000475848.1_5'UTR|CACNB4_ENST00000539935.1_Intron			O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	0					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)	TACTTACAGCCTCCGAGTCTT	0.468													5	11					0.184627	0.186935	1	1	0	A	152830186	C	A	152830186	3	1	204	1	0	0	0	0	1	0	0	0	2573	680	24	4	1470	4	CACNB4	2	152830186	Missense_Mutation	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	3023288	152830186	90369187	25	9551											
SPEG	10290	broad.mit.edu	37	chr2	220333704	220333704	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcagtgctgttaacacccAtggccaggcccactgctcag	8	8	11	14	0	2	0	2	0	0	0	2	0	2	0	3	3	3	3	3	3	1	1			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr2:220333704A>G	ENST00000312358.7	+	12	3557	c.3425A>G	c.(3424-3426)cAt>cGt	p.H1142R	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1142	Ig-like 5.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GTTAACACCCATGGCCAGGCC	0.652													7	35					0	0	1	0	0	G	220333704	A	G	220333704	3	3	204	1	0	0	0	0	1	0	0	0	15092	217	8	3	3483	3	SPEG	2	220333704	Missense_Mutation	SNP	A	TCGA-HC-A4ZV-01A-11D-A26M-08	67503518	220333704	22865669	26	9552											
AP1S3	130340	broad.mit.edu	37	chr2	224642531	224642531	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctttatcagggagagtgatgTaccatttctgtagccgtaat	10	14	10	7	1	2	2	1	1	1	1	2	3	2	2	2	1	2	3	2	1	4	6			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr2:224642531T>A	ENST00000443700.1	-	2	210	c.59A>T	c.(58-60)tAc>tTc	p.Y20F	AP1S3_ENST00000396653.2_Missense_Mutation_p.Y20F|AP1S3_ENST00000409375.1_Missense_Mutation_p.Y20F|AP1S3_ENST00000446015.2_Missense_Mutation_p.Y20F|AP1S3_ENST00000423110.1_Missense_Mutation_p.Y20F|AP1S3_ENST00000396654.2_Missense_Mutation_p.Y20F			Q96PC3	AP1S3_HUMAN	adaptor-related protein complex 1, sigma 3 subunit	20					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane coat	protein transporter activity			NS(1)|breast(1)|lung(2)	4		Renal(207;0.0112)|Lung NSC(271;0.0186)|all_lung(227;0.0272)		Epithelial(121;7.6e-10)|all cancers(144;3.62e-07)|Lung(261;0.0086)|LUSC - Lung squamous cell carcinoma(224;0.00902)		GAGAGTGATGTACCATTTCTG	0.423													10	11					0	0	1	0	0	A	224642531	T	A	224642531	3	1	204	1	0	0	0	0	1	0	0	0	734	1638	57	5	421	5	AP1S3	2	224642531	Missense_Mutation	SNP	T	TCGA-HC-A4ZV-01A-11D-A26M-08	4308827	224642531	18556842	27	9553											
GPR55	9290	broad.mit.edu	37	chr2	231775091	231775091	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagcagcagaagcccatgAtgcccatgggaaggaggaag	13	4	16	8	0	0	2	0	1	0	1	0	6	0	6	2	4	4	2	2	4	3	0			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr2:231775091A>G	ENST00000392040.1	-	2	779	c.587T>C	c.(586-588)aTc>aCc	p.I196T	GPR55_ENST00000392039.2_Missense_Mutation_p.I196T	NM_005683.3	NP_005674.2	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	196					activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity			endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		GAAGCCCATGATGCCCATGGG	0.567													34	55					0	0	1	0	0	G	231775091	A	G	231775091	3	3	204	1	0	0	0	0	1	0	0	0	6739	333	12	3	376	3	GPR55	2	231775091	Missense_Mutation	SNP	A	TCGA-HC-A4ZV-01A-11D-A26M-08	7132560	231775091	11424282	28	9554											
TTLL3	26140	broad.mit.edu	37	chr3	9855030	9855030	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atggaacacatgctctgatgGtgagggccctgggggccaag	9	7	16	9	0	1	2	0	2	1	0	1	3	1	3	2	5	2	1	2	5	2	0			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr3:9855030G>A	ENST00000547186.1	+	4	531		c.e4+1		TTLL3_ENST00000426895.4_Splice_Site|TTLL3_ENST00000427853.3_Splice_Site|ARPC4-TTLL3_ENST00000397256.1_Splice_Site|TTLL3_ENST00000397241.1_Splice_Site	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3						axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					TGCTCTGATGGTGAGGGCCCT	0.517													5	7					0	0	1	0	0	A	9855030	G	A	9855030	5	1	204	1	0	0	0	0	0	0	1	0	16790	1275	44	2	326	2	TTLL3	3	9855030	Splice_Site	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08		9855030	188167400	29	9555											
DALRD3	55152	broad.mit.edu	37	chr3	49053448	49053448	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagccccggggctgtgcaGtccagcactgctgtccggct	4	8	15	14	2	0	0	0	0	0	0	2	1	2	1	4	4	4	5	4	4	0	0			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr3:49053448G>T	ENST00000440857.1	-	11	1602	c.900C>A	c.(898-900)gaC>gaA	p.D300E	DALRD3_ENST00000313778.5_Missense_Mutation_p.D300E|DALRD3_ENST00000441576.2_Missense_Mutation_p.L459M|DALRD3_ENST00000395462.4_Missense_Mutation_p.D300E|DALRD3_ENST00000341949.4_Missense_Mutation_p.D467E			Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	467					arginyl-tRNA aminoacylation	cytoplasm	arginine-tRNA ligase activity|ATP binding			breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GGGCTGTGCAGTCCAGCACTG	0.567													19	41					1.55795e-14	1.86953e-14	1	1	0	T	49053448	G	T	49053448	3	4	204	1	0	0	0	0	1	0	0	0	4253	1020	36	4	242	4	DALRD3	3	49053448	Missense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	39198418	49053448	148968982	30	9556											
ATR	545	broad.mit.edu	37	chr3	142204017	142204017	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actatataccggatgagatcAccttgcttttccattttgtt	9	17	6	9	1	1	1	1	1	0	1	2	3	2	2	3	1	2	2	3	1	3	9			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr3:142204017A>T	ENST00000350721.4	-	36	6307	c.6186T>A	c.(6184-6186)ggT>ggA	p.G2062G	ATR_ENST00000383101.3_Silent_p.G1998G	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	2062	FAT.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GGATGAGATCACCTTGCTTTT	0.408								Other conserved DNA damage response genes					5	57					0	0	1	0	0	T	142204017	A	T	142204017	2	4	204	1	0	0	0	0	0	0	0	1	1202	146	6	5		5	ATR	3	142204017	Silent	SNP	A	TCGA-HC-A4ZV-01A-11D-A26M-08	93150569	142204017	55818413	31	9557											
MME	4311	broad.mit.edu	37	chr3	154884795	154884795	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taggacacgaaatcacccatGgcttcgatgacaatggtaaa	15	8	9	9	2	1	1	1	1	0	0	2	4	1	2	1	3	0	2	1	3	5	3			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr3:154884795G>T	ENST00000460393.1	+	18	1885	c.1765G>T	c.(1765-1767)Ggc>Tgc	p.G589C	MME_ENST00000492661.1_Missense_Mutation_p.G589C|MME_ENST00000493237.1_Missense_Mutation_p.G589C|MME-AS1_ENST00000484721.1_RNA|MME_ENST00000462745.1_Missense_Mutation_p.G589C|MME_ENST00000360490.2_Missense_Mutation_p.G589C	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	589					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	AATCACCCATGGCTTCGATGA	0.443													19	75					1.96292e-10	2.27138e-10	1	1	0	T	154884795	G	T	154884795	3	4	204	1	0	0	0	0	1	0	0	0	9693	1348	47	4	1831	4	MME	3	154884795	Missense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	12680778	154884795	43137635	32	9558											
SERPINI1	5274	broad.mit.edu	37	chr3	167525032	167525032	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctccctatgtgttctccagGttcacagtggaacaggaaat	10	12	9	10	0	3	0	1	0	2	0	5	2	3	2	2	3	1	2	2	3	3	3			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr3:167525032G>T	ENST00000295777.5	+	6	1313	c.881_splice	c.e6-1	p.R294_splice	SERPINI1_ENST00000446050.2_Splice_Site_p.R294_splice|SERPINI1_ENST00000488374.1_3'UTR	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	294					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						TGTTCTCCAGGTTCACAGTGG	0.348													5	35					1.23904e-05	1.34714e-05	1	1	0	T	167525032	G	T	167525032	5	4	204	1	0	0	0	0	0	0	1	0	14172	1275	44	4	900	4	SERPINI1	3	167525032	Splice_Site	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	12640237	167525032	30497398	33	9559											
ZNF721	170960	broad.mit.edu	37	chr4	436020	436020	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagtttatctccagtatgaaTtttcttatattcgttcaggt	9	19	7	6	1	3	1	1	1	2	0	5	2	3	1	1	1	0	3	1	1	5	9			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr4:436020T>C	ENST00000338977.5	-	2	2248	c.2200A>G	c.(2200-2202)Att>Gtt	p.I734V	ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_Missense_Mutation_p.I746V|ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA					zinc finger protein 721											endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						CCAGTATGAATTTTCTTATAT	0.378													9	11					0	0	1	0	0	C	436020	T	C	436020	3	2	204	1	0	0	0	0	1	0	0	0	18176	1493	52	3	539	3	ZNF721	4	436020	Missense_Mutation	SNP	T	TCGA-HC-A4ZV-01A-11D-A26M-08		436020	190718256	34	9560											
ZNF518B	85460	broad.mit.edu	37	chr4	10445228	10445228	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggatccttgagacagcGgctaggttcagcttgaattt	10	12	12	7	1	1	3	1	3	0	1	2	5	2	4	1	3	2	3	1	3	3	5			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr4:10445228G>A	ENST00000326756.3	-	3	3163	c.2725C>T	c.(2725-2727)Cgc>Tgc	p.R909C		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	909					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TTGAGACAGCGGCTAGGTTCA	0.428													20	51					0	0	1	0	0	A	10445228	G	A	10445228	3	1	204	1	0	0	0	0	1	0	0	0	18020	1116	39	1	503	1	ZNF518B	4	10445228	Missense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	10009208	10445228	180709048	35	9561											
AFF1	4299	broad.mit.edu	37	chr4	87968120	87968120	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acaatccaaagatggcgcagCcaagaactgaaccaatgcca	17	4	8	12	1	0	3	0	1	0	2	1	3	1	3	4	1	4	1	4	1	6	0			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr4:87968120C>A	ENST00000307808.6	+	3	832	c.412C>A	c.(412-414)Cca>Aca	p.P138T	AFF1_ENST00000395146.4_Missense_Mutation_p.P145T|AFF1_ENST00000544085.1_Intron	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	138						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		GATGGCGCAGCCAAGAACTGA	0.572													15	33					3.27435e-08	3.76202e-08	1	1	0	A	87968120	C	A	87968120	3	1	204	1	0	0	0	0	1	0	0	0	355	739	26	4	464	4	AFF1	4	87968120	Missense_Mutation	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	77522892	87968120	103186156	36	9562											
PCDH10	57575	broad.mit.edu	37	chr4	134071887	134071887	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagcagcaagcggtgcacCgctacgtgctgaccgcggtg	8	5	16	12	5	0	2	0	1	0	1	0	3	0	2	2	2	6	5	2	2	2	1			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr4:134071887C>T	ENST00000264360.4	+	1	1418	c.592C>T	c.(592-594)Cgc>Tgc	p.R198C		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	198	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		AGCGGTGCACCGCTACGTGCT	0.682													17	30					0	0	1	0	0	T	134071887	C	T	134071887	3	4	204	1	0	0	0	0	1	0	0	0	11554	652	23	1	594	1	PCDH10	4	134071887	Missense_Mutation	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	46103767	134071887	57082389	37	9563											
STOX2	56977	broad.mit.edu	37	chr4	184930515	184930515	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcagtgcacctctccgcaacCcgggaccatcacgccctctg	7	7	8	19	3	4	0	2	0	2	0	5	1	4	1	5	1	2	2	5	1	1	0			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr4:184930515C>A	ENST00000308497.4	+	3	1959	c.524C>A	c.(523-525)cCc>cAc	p.P175H	STOX2_ENST00000438269.1_Missense_Mutation_p.P175H	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	175					embryo development|maternal placenta development					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		TCTCCGCAACCCGGGACCATC	0.537													27	57					2.25844e-05	2.42296e-05	1	1	0	A	184930515	C	A	184930515	3	1	204	1	0	0	0	0	1	0	0	0	15376	623	22	4	534	4	STOX2	4	184930515	Missense_Mutation	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	50858628	184930515	6223761	38	9564											
PRR16	51334	broad.mit.edu	37	chr5	120022392	120022392	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcttgaggaagtcaaccacTacaaccgtgtgatgtatgcc	12	10	9	10	1	2	2	1	2	1	0	2	3	2	3	3	1	4	1	3	1	5	3			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr5:120022392T>C	ENST00000379551.2	+	3	1191	c.834T>C	c.(832-834)acT>acC	p.T278T	PRR16_ENST00000505123.1_Silent_p.T231T|PRR16_ENST00000446965.1_Silent_p.T231T|PRR16_ENST00000407149.2_Silent_p.T301T	NM_016644.1	NP_057728.1	Q569H4	PRR16_HUMAN	proline rich 16	301	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		AGTCAACCACTACAACCGTGT	0.373													18	19					0	0	1	0	0	C	120022392	T	C	120022392	2	2	204	1	0	0	0	0	0	0	0	1	12641	1509	53	3		3	PRR16	5	120022392	Silent	SNP	T	TCGA-HC-A4ZV-01A-11D-A26M-08		120022392	60892868	39	9565											
PCDHA11	0	broad.mit.edu	37	chr5	140250177	140250177	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctactcgctggtggagcggCggttgggcgaccgcgcgctg	3	7	18	13	7	0	0	0	0	0	0	1	2	0	1	2	5	2	3	2	5	1	2	rs142085498	by1000genomes	TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr5:140250177C>T	ENST00000398640.2	+	1	1489	c.1489C>T	c.(1489-1491)Cgg>Tgg	p.R497W	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGAGCGGCGGTTGGGCGA	0.677													5	103					0	0	1	0	0	T	140250177	C	T	140250177	3	4	204	1	0	0	0	0	1	0	0	0	11568	759	27	1	1491	1	PCDHA11	5	140250177	Missense_Mutation	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	20227785	140250177	40665083	40	9566											
PCDHGA8	0	broad.mit.edu	37	chr5	140773100	140773100	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatacaaatgacaatgccccGgtttttcctcacccgattta	11	12	6	12	2	1	1	1	1	0	0	2	3	2	1	4	1	2	1	4	1	4	5			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr5:140773100G>A	ENST00000398604.2	+	1	720	c.720G>A	c.(718-720)ccG>ccA	p.P240P	PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAATGCCCCGGTTTTTCCTC	0.582													26	64					0	0	1	0	0	A	140773100	G	A	140773100	2	1	204	1	0	0	0	0	0	0	0	1	11607	1103	39	1		1	PCDHGA8	5	140773100	Silent	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	522923	140773100	40142160	41	9567											
SPRY4	81848	broad.mit.edu	37	chr5	141694233	141694233	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtccagctcgggtgggacCgccgggcccttgaggtccag	4	8	16	13	3	0	1	0	1	0	0	3	2	2	2	5	4	1	1	5	4	0	2			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr5:141694233C>T	ENST00000344120.4	-	3	696	c.510G>A	c.(508-510)gcG>gcA	p.A170A	SPRY4_ENST00000434127.2_Silent_p.A147A	NM_030964.3	NP_112226.2	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	147	Cys-rich.|SPR.				multicellular organismal development	cytoplasm|ruffle membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGTGGGACCGCCGGGCCCT	0.652									Testicular Cancer, Familial Clustering of				6	86					0	0	1	0	0	T	141694233	C	T	141694233	2	4	204	1	0	0	0	0	0	0	0	1	15164	639	23	1		1	SPRY4	5	141694233	Silent	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	921133	141694233	39221027	42	9568											
TTC1	7265	broad.mit.edu	37	chr5	159437759	159437759	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctcatttgaggaggagccagGagcggacaaggttgagaaca	13	6	15	7	1	1	2	1	2	0	1	1	7	1	6	1	5	3	1	1	5	2	2			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr5:159437759G>T	ENST00000231238.5	+	2	334	c.224G>T	c.(223-225)gGa>gTa	p.G75V	TTC1_ENST00000522793.1_Missense_Mutation_p.G75V	NM_003314.1	NP_003305.1	Q99614	TTC1_HUMAN	tetratricopeptide repeat domain 1	75					protein folding		unfolded protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|prostate(1)|skin(1)	12	Renal(175;0.00196)	all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402)		GAGGAGCCAGGAGCGGACAAG	0.463													5	15					1.024e-07	1.16006e-07	1	1	0	T	159437759	G	T	159437759	3	4	204	1	0	0	0	0	1	0	0	0	16740	1174	41	4	226	4	TTC1	5	159437759	Missense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	17743526	159437759	21477501	43	9569											
DBN1	1627	broad.mit.edu	37	chr5	176886684	176886686	+	In_Frame_Del	DEL	GAG	GAG	-																															gtggaggggaggaggaggaaGaggaggaggaggaaggccca																										TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr5:176886684_176886686delGAG	ENST00000393565.1	-	11	1126_1128	c.1011_1013delCTC	c.(1009-1014)tct>tc	p.SS341del	DBN1_ENST00000393563.4_Intron|DBN1_ENST00000292385.5_Intron|DBN1_ENST00000512501.1_Intron|DBN1_ENST00000309007.5_Intron			Q16643	DREB_HUMAN	drebrin 1	319					actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ggaggaggaagaggaggaggagg	0.591													2	4	---	---	---	---						-	176886686	GAG	-	176886684	7	5	204	1	0	1	0	1	0	0	0	0	4276	957	33	0		0	DBN1	5	176886684	In_Frame_Del	DEL	GAG	TCGA-HC-A4ZV-01A-11D-A26M-08	17448925	176886684	4028576	44	9570											
C5orf45	51149	broad.mit.edu	37	chr5	179264557	179264557	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccagatgtgacggggtgtGtggcccgaggaagctggaca	9	6	17	9	2	0	2	0	1	0	1	0	5	0	4	2	5	1	1	2	5	1	0			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr5:179264557G>A	ENST00000292586.6	-	7	956	c.866C>T	c.(865-867)aCa>aTa	p.T289I	C5orf45_ENST00000403396.2_Intron|C5orf45_ENST00000523267.1_5'UTR|SQSTM1_ENST00000376929.3_3'UTR|SQSTM1_ENST00000389805.4_3'UTR|C5orf45_ENST00000523084.1_Missense_Mutation_p.T155I|C5orf45_ENST00000376931.2_Missense_Mutation_p.T234I|C5orf45_ENST00000520698.1_Intron|C5orf45_ENST00000518219.1_3'UTR|C5orf45_ENST00000518235.1_Intron	NM_016175.3	NP_057259.2	Q6NTE8	CE045_HUMAN	chromosome 5 open reading frame 45	289										breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						GACGGGGTGTGTGGCCCGAGG	0.662													34	66					0	0	1	0	0	A	179264557	G	A	179264557	3	1	204	1	0	0	0	0	1	0	0	0	2319	1377	48	2	169	2	C5orf45	5	179264557	Missense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	2377873	179264557	1650703	45	9571											
RNF8	9025	broad.mit.edu	37	chr6	37336834	37336834	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaacatgaagccgttatgaAtgtgaaaaagcagacccaaa	20	6	8	7	1	0	4	0	3	0	1	0	4	0	4	2	0	3	2	2	0	8	1			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr6:37336834A>G	ENST00000373479.4	+	3	1008	c.815A>G	c.(814-816)aAt>aGt	p.N272S	RNF8_ENST00000479516.1_3'UTR|RNF8_ENST00000469731.1_Missense_Mutation_p.N272S	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	272					cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						GCCGTTATGAATGTGAAAAAG	0.453													11	30					0	0	1	0	0	G	37336834	A	G	37336834	3	3	204	1	0	0	0	0	1	0	0	0	13552	101	4	3	825	3	RNF8	6	37336834	Missense_Mutation	SNP	A	TCGA-HC-A4ZV-01A-11D-A26M-08		37336834	133778233	46	9572											
MYO6	4646	broad.mit.edu	37	chr6	76599811	76599811	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaacaaatccagaaagaatAtgatgcactggttaaaagct	18	8	9	6	0	0	3	0	1	0	2	1	4	1	4	1	2	3	3	1	2	7	2			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr6:76599811A>G	ENST00000369981.3	+	26	2975	c.2696A>G	c.(2695-2697)tAt>tGt	p.Y899C	MYO6_ENST00000369977.3_Missense_Mutation_p.Y899C|MYO6_ENST00000369975.1_Missense_Mutation_p.Y899C|MYO6_ENST00000369985.4_Missense_Mutation_p.Y899C			Q9UM54	MYO6_HUMAN	myosin VI	899					actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		CAGAAAGAATATGATGCACTG	0.368													3	48					0	0	1	0	0	G	76599811	A	G	76599811	3	3	204	1	0	0	0	0	1	0	0	0	10129	449	16	3	2794	3	MYO6	6	76599811	Missense_Mutation	SNP	A	TCGA-HC-A4ZV-01A-11D-A26M-08	39262977	76599811	94515256	47	9573											
TAAR5	9038	broad.mit.edu	37	chr6	132910499	132910499	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggtgtccaggtaggtgtgCaggcggcagaggaagtcccc	8	6	18	9	1	0	1	0	0	0	1	2	2	2	2	3	6	1	3	3	6	2	1			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr6:132910499C>T	ENST00000258034.2	-	1	378	c.327G>A	c.(325-327)ctG>ctA	p.L109L		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	109					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		GGTAGGTGTGCAGGCGGCAGA	0.582													25	75					0	0	1	0	0	T	132910499	C	T	132910499	2	4	204	1	0	0	0	0	0	0	0	1	15548	697	25	2		2	TAAR5	6	132910499	Silent	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	56310688	132910499	38204568	48	9574											
KIAA1244	57221	broad.mit.edu	37	chr6	138655654	138655654	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgcccttgctcagcgtccagCctgtcagcaacgcagattgg	7	9	11	14	2	2	1	2	0	0	1	3	1	3	1	3	1	6	3	3	1	1	2			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr6:138655654C>T	ENST00000251691.4	+	33	5837	c.5671C>T	c.(5671-5673)Cct>Tct	p.P1891S		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	1891					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CAGCGTCCAGCCTGTCAGCAA	0.572													9	13					0	0	1	0	0	T	138655654	C	T	138655654	3	4	204	1	0	0	0	0	1	0	0	0	8259	739	26	2	5801	2	KIAA1244	6	138655654	Missense_Mutation	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	5745155	138655654	32459413	49	9575											
ZDHHC14	79683	broad.mit.edu	37	chr6	157803172	157803172	+	Frame_Shift_Del	DEL	G	G	-																															aatcgcggcccggaggaaatGggaggtgttcccgggaagaa																										TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr6:157803172delG	ENST00000359775.5	+	1	1008	c.119delG	c.(118-120)tgfs	p.W40fs	ZDHHC14_ENST00000414563.2_Frame_Shift_Del_p.W40fs			Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14	40						integral to membrane	acyltransferase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		CGGAGGAAATGGGAGGTGTTC	0.587													7	12	---	---	---	---						-	157803172	G	-	157803172	7	5	204	1	0	1	0	1	0	0	0	0	17662	1357	47	0	121	0	ZDHHC14	6	157803172	Frame_Shift_Del	DEL	G	TCGA-HC-A4ZV-01A-11D-A26M-08	19147518	157803172	13311895	50	9576											
DYNLT1	6993	broad.mit.edu	37	chr6	159057917	159057917	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcttattctcccatcgcAcagtgcagctccctgcggga	6	11	10	14	2	2	0	0	0	2	0	5	1	3	1	2	2	3	3	2	2	1	2			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr6:159057917A>C	ENST00000367089.3	-	5	314	c.284T>G	c.(283-285)gTg>gGg	p.V95G	DYNLT1_ENST00000367088.1_3'UTR	NM_006519.2	NP_006510.1	P63172	DYLT1_HUMAN	dynein, light chain, Tctex-type 1	95	Interaction with GNB1 (By similarity).				cell division|establishment of mitotic spindle orientation|intracellular transport of viral proteins in host cell|mitosis|negative regulation of neurogenesis|regulation of G-protein coupled receptor protein signaling pathway	cytoplasmic dynein complex|Golgi apparatus|microtubule|spindle	identical protein binding|motor activity			lung(2)	2		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;4.02e-18)|BRCA - Breast invasive adenocarcinoma(81;9.53e-06)		CTCCCATCGCACAGTGCAGCT	0.512													3	17					0	0	1	0	0	C	159057917	A	C	159057917	3	2	204	1	0	0	0	0	1	0	0	0	4878	159	6	5	61	5	DYNLT1	6	159057917	Missense_Mutation	SNP	A	TCGA-HC-A4ZV-01A-11D-A26M-08	1254745	159057917	12057150	51	9577											
PSMG3	84262	broad.mit.edu	37	chr7	1608783	1608783	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcctgccccagaaggacttTtgtggtgagcacaggcttgc	8	10	12	11	0	0	2	0	1	0	1	1	3	1	3	3	3	3	2	3	3	1	3			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr7:1608783T>C	ENST00000288607.2	-	1	846	c.193A>G	c.(193-195)Aaa>Gaa	p.K65E	PSMG3_ENST00000252329.3_Missense_Mutation_p.K65E|PSMG3_ENST00000404674.3_Missense_Mutation_p.K65E	NM_032302.3	NP_115678.1	Q9BT73	PSMG3_HUMAN	proteasome (prosome, macropain) assembly chaperone 3	65										lung(2)	2		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.63e-15)		AGAAGGACTTTTGTGGTGAGC	0.602													19	24					0	0	1	0	0	C	1608783	T	C	1608783	3	2	204	1	0	0	0	0	1	0	0	0	12762	1850	64	3	183	3	PSMG3	7	1608783	Missense_Mutation	SNP	T	TCGA-HC-A4ZV-01A-11D-A26M-08		1608783	157529880	52	9578											
HOXA10	3206	broad.mit.edu	37	chr7	27213231	27213231	+	Frame_Shift_Del	DEL	C	C	-																															cagccccgagttgctgcgcgCcgccgccgccgctgccatag																										TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr7:27213231delC	ENST00000283921.4	-	1	694	c.695delG	c.(694-696)gcfs	p.G232fs	HOXA10_ENST00000396344.4_Intron|RP1-170O19.20_ENST00000465941.1_Intron|RP1-170O19.20_ENST00000470747.4_Intron	NM_018951.3	NP_061824.3	P31260	HXA10_HUMAN	homeobox A10	232	Poly-Gly.				spermatogenesis		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	9						TTGCTGCGCGCCGCCGCCGCC	0.766													2	4	---	---	---	---						-	27213231	C	-	27213231	7	5	204	1	0	1	0	1	0	0	0	0	7330	739	26	0	545	0	HOXA10	7	27213231	Frame_Shift_Del	DEL	C	TCGA-HC-A4ZV-01A-11D-A26M-08	25604448	27213231	131925432	53	9579											
AVL9	23080	broad.mit.edu	37	chr7	32591878	32591878	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaatagttccttgggaggtgCttcattagaaggatcccaag	11	11	12	7	0	1	1	1	0	0	1	3	4	3	3	2	3	1	2	2	3	5	5			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr7:32591878C>T	ENST00000318709.4	+	6	721	c.500C>T	c.(499-501)gCt>gTt	p.A167V	AVL9_ENST00000409301.1_Missense_Mutation_p.A167V|AVL9_ENST00000404479.1_Missense_Mutation_p.A167V	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	167						integral to membrane				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TTGGGAGGTGCTTCATTAGAA	0.313													3	16					0	0	1	0	0	T	32591878	C	T	32591878	3	4	204	1	0	0	0	0	1	0	0	0	1226	797	28	2	522	2	AVL9	7	32591878	Missense_Mutation	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	5378647	32591878	126546785	54	9580											
ABCA13	154664	broad.mit.edu	37	chr7	48266865	48266865	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttttcccatcagatggatCtcaataagaccgaggaggta	12	12	9	8	1	2	2	2	0	1	2	4	5	3	4	2	3	0	1	2	3	3	5			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr7:48266865C>A	ENST00000435803.1	+	6	499	c.475C>A	c.(475-477)Ctc>Atc	p.L159I		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	159					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCAGATGGATCTCAATAAGAC	0.388													4	75					0.217242	0.218592	1	1	0	A	48266865	C	A	48266865	3	1	204	1	0	0	0	0	1	0	0	0	31	913	32	4	326	4	ABCA13	7	48266865	Missense_Mutation	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	15674987	48266865	110871798	55	9581											
TECPR1	25851	broad.mit.edu	37	chr7	97860340	97860340	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gggctcgctcacgaagatgtCccccttgcaggtgatggacc	7	8	13	13	2	1	2	1	1	0	1	3	4	2	3	3	3	1	3	3	3	1	1			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr7:97860340C>T	ENST00000447648.2	-	15	2514	c.2215G>A	c.(2215-2217)Gac>Aac	p.D739N	TECPR1_ENST00000542604.1_Missense_Mutation_p.D669N|TECPR1_ENST00000379795.3_Missense_Mutation_p.D740N			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	739						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ACGAAGATGTCCCCCTTGCAG	0.692													6	36					0	0	1	0	0	T	97860340	C	T	97860340	3	4	204	1	0	0	0	0	1	0	0	0	15802	855	30	2	1330	2	TECPR1	7	97860340	Missense_Mutation	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	49593475	97860340	61278323	56	9582											
RELN	5649	broad.mit.edu	37	chr7	103124148	103124148	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtgtgaagtcctttggcTggtgctgggcgatgacatgc	5	13	15	8	1	0	2	0	2	0	0	1	3	1	2	1	3	2	2	1	3	1	2			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr7:103124148T>A	ENST00000428762.1	-	62	10292	c.10133A>T	c.(10132-10134)cAg>cTg	p.Q3378L	RELN_ENST00000473945.1_5'UTR|RELN_ENST00000343529.5_Missense_Mutation_p.Q3378L|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000424685.2_Missense_Mutation_p.Q3378L	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3378					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GTCCTTTGGCTGGTGCTGGGC	0.537													42	154					0	0	1	0	0	A	103124148	T	A	103124148	3	1	204	1	0	0	0	0	1	0	0	0	13272	1580	55	5	265	5	RELN	7	103124148	Missense_Mutation	SNP	T	TCGA-HC-A4ZV-01A-11D-A26M-08	5263808	103124148	56014515	57	9583											
SYPL1	0	broad.mit.edu	37	chr7	105739618	105739619	+	Frame_Shift_Ins	INS	-	-	T																															ctcacctgaatggataaccaINSaaagtagctgtaacagtttt																										TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr7:105739618_105739619insT	ENST00000455385.2	-	2	301_302	c.179_180insA	c.(178-180)tggfs	p.W60fs	SYPL1_ENST00000470347.1_Frame_Shift_Ins_p.W60fs|SYPL1_ENST00000011473.2_Frame_Shift_Ins_p.W78fs	NM_182715.2	NP_874384.1	Q16563	SYPL1_HUMAN	synaptophysin-like 1	78	MARVEL.				synaptic transmission	cytoplasmic vesicle membrane|integral to plasma membrane|melanosome|synaptic vesicle	transporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	7						ATGGATAACCAAAAGTAGCTGT	0.351													13	82	---	---	---	---						T	105739619	-	T	105739618	7	5	204	1	0	1	1	0	0	0	0	0	15519	127	5	0	561	0	SYPL1	7	105739618	Frame_Shift_Ins	INS	-	TCGA-HC-A4ZV-01A-11D-A26M-08	2615470	105739618	53399045	58	9584											
CTTNBP2	83992	broad.mit.edu	37	chr7	117501355	117501355	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatttactgagagtatccaCatcaaactcttttttctgta	11	16	6	8	0	3	1	1	1	2	1	4	3	4	2	1	1	2	2	1	1	4	7			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr7:117501355C>G	ENST00000160373.3	-	2	188	c.97G>C	c.(97-99)Gtg>Ctg	p.V33L		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	33										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		AGAGTATCCACATCAAACTCT	0.458													3	19					0	0	1	0	0	G	117501355	C	G	117501355	3	3	204	1	0	0	0	0	1	0	0	0	4069	478	17	4	4982	4	CTTNBP2	7	117501355	Missense_Mutation	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	11761737	117501355	41637308	59	9585											
TTC26	79989	broad.mit.edu	37	chr7	138833005	138833005	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgctactacaagttggattActatgatgtgtctcaagaag	12	13	9	7	0	1	2	1	1	1	1	2	3	1	3	0	1	4	2	0	1	7	5			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr7:138833005A>G	ENST00000464848.1	+	7	679	c.599A>G	c.(598-600)tAc>tGc	p.Y200C	TTC26_ENST00000495038.1_Intron|TTC26_ENST00000478836.2_Intron|TTC26_ENST00000474035.2_Missense_Mutation_p.Y200C|TTC26_ENST00000481482.1_3'UTR|TTC26_ENST00000430935.1_Missense_Mutation_p.Y200C|TTC26_ENST00000343187.4_Missense_Mutation_p.Y169C			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	200							binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						AAGTTGGATTACTATGATGTG	0.393													4	73					0	0	1	0	0	G	138833005	A	G	138833005	3	3	204	1	0	0	0	0	1	0	0	0	16756	391	14	3	625	3	TTC26	7	138833005	Missense_Mutation	SNP	A	TCGA-HC-A4ZV-01A-11D-A26M-08	21331650	138833005	20305658	60	9586											
RALYL	138046	broad.mit.edu	37	chr8	85686864	85686864	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagaccaaaacctggaaacAagaggcccctttctgcactt	14	7	7	13	0	1	2	0	0	1	2	1	3	1	3	4	2	3	1	4	2	4	2			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr8:85686864A>G	ENST00000521268.1	+	3	1412	c.307A>G	c.(307-309)Aag>Gag	p.K103E	RALYL_ENST00000517638.1_Missense_Mutation_p.K116E|RALYL_ENST00000518566.1_Missense_Mutation_p.K103E|RALYL_ENST00000521376.1_Missense_Mutation_p.K30E|RALYL_ENST00000523850.1_Missense_Mutation_p.K30E|RALYL_ENST00000522455.1_Missense_Mutation_p.K103E|RALYL_ENST00000521695.1_Missense_Mutation_p.K103E	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	103							identical protein binding|nucleotide binding|RNA binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						ACCTGGAAACAAGAGGCCCCT	0.353													6	11					0	0	1	0	0	G	85686864	A	G	85686864	3	3	204	1	0	0	0	0	1	0	0	0	13072	131	5	3	356	3	RALYL	8	85686864	Missense_Mutation	SNP	A	TCGA-HC-A4ZV-01A-11D-A26M-08		85686864	60677158	61	9587											
CA2	760	broad.mit.edu	37	chr8	86386011	86386011	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atggacaaggttcagagcatActgtggataaaaagaaatat	18	9	10	4	0	1	2	1	0	0	2	1	4	1	4	0	3	2	2	0	3	7	4			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr8:86386011A>T	ENST00000285379.5	+	3	552	c.322A>T	c.(322-324)Act>Tct	p.T108S		NM_000067.2	NP_000058.1	P00918	CAH2_HUMAN	carbonic anhydrase II	108					one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	TTCAGAGCATACTGTGGATAA	0.343													19	33					0	0	1	0	0	T	86386011	A	T	86386011	3	4	204	1	0	0	0	0	1	0	0	0	2534	391	14	5	332	5	CA2	8	86386011	Missense_Mutation	SNP	A	TCGA-HC-A4ZV-01A-11D-A26M-08	699147	86386011	59978011	62	9588											
SNX31	169166	broad.mit.edu	37	chr8	101612611	101612611	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttctttctggaaagcttctAatttctgcctctgtgcctgt	5	18	7	11	0	5	0	0	0	5	0	5	1	5	1	2	1	3	1	2	1	2	5			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr8:101612611A>T	ENST00000311812.2	-	9	890	c.740T>A	c.(739-741)tTa>tAa	p.L247*	SNX31_ENST00000428383.2_Nonsense_Mutation_p.L148*	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	247					cell communication|protein transport		phosphatidylinositol binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			GAAAGCTTCTAATTTCTGCCT	0.363													17	103					0	0	1	0	0	T	101612611	A	T	101612611	4	4	204	1	0	0	0	0	0	1	0	0	14955	372	13	5	606	5	SNX31	8	101612611	Nonsense_Mutation	SNP	A	TCGA-HC-A4ZV-01A-11D-A26M-08	15226600	101612611	44751411	63	9589											
KLHL38	340359	broad.mit.edu	37	chr8	124664821	124664821	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcctcaaacagcttggggaActgtagcatggaggcggcct	9	7	15	10	1	1	0	1	0	0	0	1	2	1	2	2	6	4	3	2	6	3	2			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr8:124664821A>G	ENST00000325995.7	-	1	369	c.346T>C	c.(346-348)Ttc>Ctc	p.F116L	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	116										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						AGCTTGGGGAACTGTAGCATG	0.567													9	33					0	0	1	0	0	G	124664821	A	G	124664821	3	3	204	1	0	0	0	0	1	0	0	0	8433	43	2	3	1411	3	KLHL38	8	124664821	Missense_Mutation	SNP	A	TCGA-HC-A4ZV-01A-11D-A26M-08	23052210	124664821	21699201	64	9590											
FAM154A	158297	broad.mit.edu	37	chr9	18941638	18941638	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctctgtgctctcccaccttTataagtaggcaaacactcca	10	11	5	15	0	2	0	0	0	2	0	4	0	3	0	4	1	2	3	4	1	4	4			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr9:18941638T>C	ENST00000380534.4	-	3	697	c.418A>G	c.(418-420)Aaa>Gaa	p.K140E	FAM154A_ENST00000380530.1_Intron|FAM154A_ENST00000542071.1_Intron	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	140										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		CTCCCACCTTTATAAGTAGGC	0.493													8	30					0	0	1	0	0	C	18941638	T	C	18941638	3	2	204	1	0	0	0	0	1	0	0	0	5493	1763	61	3	1014	3	FAM154A	9	18941638	Missense_Mutation	SNP	T	TCGA-HC-A4ZV-01A-11D-A26M-08		18941638	122271793	65	9591											
TEK	7010	broad.mit.edu	37	chr9	27217729	27217729	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggccatcgagtcactgaattAcagtgtgtacacaaccaaca	14	8	8	11	1	1	1	1	1	0	0	2	2	1	1	2	1	4	1	2	1	5	2			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr9:27217729A>G	ENST00000380036.4	+	19	3477	c.3035A>G	c.(3034-3036)tAc>tGc	p.Y1012C	TEK_ENST00000519097.1_Missense_Mutation_p.Y864C|TEK_ENST00000406359.4_Missense_Mutation_p.Y969C	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	1012	Protein kinase.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		TCACTGAATTACAGTGTGTAC	0.438													16	31					0	0	1	0	0	G	27217729	A	G	27217729	3	3	204	1	0	0	0	0	1	0	0	0	15810	391	14	3	3109	3	TEK	9	27217729	Missense_Mutation	SNP	A	TCGA-HC-A4ZV-01A-11D-A26M-08	8276091	27217729	113995702	66	9592											
FOXB2	442425	broad.mit.edu	37	chr9	79635159	79635159	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcctccgcacctcccgtcaCagcccccgcagcaaccgccc	6	3	7	25	5	1	0	1	0	0	0	3	0	3	0	8	0	3	3	8	0	1	0			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr9:79635159C>G	ENST00000376708.1	+	1	589	c.589C>G	c.(589-591)Cag>Gag	p.Q197E		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	197					brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|lung(8)|ovary(1)	10						CCTCCCGTCACAGCCCCCGCA	0.761													14	26					0	0	1	0	0	G	79635159	C	G	79635159	3	3	204	1	0	0	0	0	1	0	0	0	6026	479	17	4	591	4	FOXB2	9	79635159	Missense_Mutation	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	52417430	79635159	61578272	67	9593											
MYO3A	53904	broad.mit.edu	37	chr10	26500819	26500819	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaggaggagagagagccagCagccaacccctacgacttca	13	3	13	12	1	1	2	1	0	0	2	1	7	1	4	4	3	5	1	4	3	2	2			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr10:26500819C>G	ENST00000265944.5	+	35	4944	c.4778C>G	c.(4777-4779)gCa>gGa	p.A1593G	MYO3A_ENST00000543632.1_Missense_Mutation_p.S608R	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1593					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AGAGAGCCAGCAGCCAACCCC	0.652													10	24					0	0	1	0	0	G	26500819	C	G	26500819	3	3	204	1	0	0	0	0	1	0	0	0	10124	710	25	4	4908	4	MYO3A	10	26500819	Missense_Mutation	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08		26500819	109033928	68	9594											
DDX50	79009	broad.mit.edu	37	chr10	70673953	70673953	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gactcaaaaggctgcaactaCtgtggaagtaagtagctttc	13	10	10	8	0	1	0	1	0	0	0	2	2	1	1	0	2	4	5	0	2	7	4			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr10:70673953C>A	ENST00000373585.3	+	7	1189	c.1082C>A	c.(1081-1083)aCt>aAt	p.T361N		NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	361						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						GCTGCAACTACTGTGGAAGTA	0.348													13	14					4.3838e-07	4.89776e-07	1	1	0	A	70673953	C	A	70673953	3	1	204	1	0	0	0	0	1	0	0	0	4391	565	20	4	1108	4	DDX50	10	70673953	Missense_Mutation	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	44173134	70673953	64860794	69	9595											
TACC2	10579	broad.mit.edu	37	chr10	123842618	123842618	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccagtcacctggaatgtcGccagtacccctcagagagcc	10	6	10	15	1	2	1	2	0	0	1	3	4	2	2	6	1	2	1	6	1	2	1			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr10:123842618G>A	ENST00000369005.1	+	4	943	c.603G>A	c.(601-603)tcG>tcA	p.S201S	TACC2_ENST00000515603.1_Silent_p.S201S|TACC2_ENST00000515273.1_Silent_p.S201S|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Silent_p.S201S|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000334433.3_Silent_p.S201S	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	201						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CTGGAATGTCGCCAGTACCCC	0.582													13	21					0	0	1	0	0	A	123842618	G	A	123842618	2	1	204	1	0	0	0	0	0	0	0	1	15559	1074	38	1		1	TACC2	10	123842618	Silent	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	53168665	123842618	11692129	70	9596											
ANO3	63982	broad.mit.edu	37	chr11	26681858	26681858	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgcatacctgattccagacgTaccaaagggtctacatgacc	12	8	8	13	2	1	3	0	2	1	1	2	3	2	3	4	1	3	2	4	1	4	4			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr11:26681858T>C	ENST00000256737.3	+	27	3665	c.2813T>C	c.(2812-2814)gTa>gCa	p.V938A	ANO3_ENST00000537978.1_Missense_Mutation_p.V922A|ANO3_ENST00000525139.1_Missense_Mutation_p.V922A|ANO3_ENST00000531568.1_Missense_Mutation_p.V792A	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	938						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						ATTCCAGACGTACCAAAGGGT	0.383													26	49					0	0	1	0	0	C	26681858	T	C	26681858	3	2	204	1	0	0	0	0	1	0	0	0	692	1638	57	3	2919	3	ANO3	11	26681858	Missense_Mutation	SNP	T	TCGA-HC-A4ZV-01A-11D-A26M-08		26681858	108324658	71	9597											
LRP4	4038	broad.mit.edu	37	chr11	46897058	46897058	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccatgaggcctggcaggtTggacctcacgaggatgacat	9	8	14	10	1	1	2	1	2	0	0	2	5	2	4	3	5	0	2	3	5	0	1			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr11:46897058T>G	ENST00000378623.1	-	27	4116	c.3874A>C	c.(3874-3876)Aac>Cac	p.N1292H		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1292					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CCTGGCAGGTTGGACCTCACG	0.597													15	30					0	0	1	0	0	G	46897058	T	G	46897058	3	3	204	1	0	0	0	0	1	0	0	0	9004	1812	63	5	1891	5	LRP4	11	46897058	Missense_Mutation	SNP	T	TCGA-HC-A4ZV-01A-11D-A26M-08	20215200	46897058	88109458	72	9598											
SSRP1	6749	broad.mit.edu	37	chr11	57100120	57100120	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acaaagaacatctggcgctgGtccttgtggggtaacaaaaa	14	8	11	8	1	1	1	0	0	1	1	2	1	2	1	1	4	2	2	1	4	5	2			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr11:57100120G>T	ENST00000278412.2	-	6	1013	c.747C>A	c.(745-747)gaC>gaA	p.D249E		NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	249					DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						TCTGGCGCTGGTCCTTGTGGG	0.488													11	18					1.08611e-07	1.22187e-07	1	1	0	T	57100120	G	T	57100120	3	4	204	1	0	0	0	0	1	0	0	0	15250	1252	44	4	1430	4	SSRP1	11	57100120	Missense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	10203062	57100120	77906396	73	9599											
SLC22A8	9376	broad.mit.edu	37	chr11	62760841	62760841	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agctaaggaaaagccctgggCccagacctgcttccccaggg	10	5	12	14	0	0	1	0	0	0	1	1	2	1	2	5	3	3	2	5	3	3	2			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr11:62760841C>A	ENST00000311438.8	-	9	1583	c.1584G>T	c.(1582-1584)ggG>ggT	p.G528G	SLC22A8_ENST00000545207.1_Intron|SLC22A8_ENST00000430500.2_Intron|SLC22A8_ENST00000336232.2_Intron|SLC22A8_ENST00000535878.1_Intron			Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	58					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						AAGCCCTGGGCCCAGACCTGC	0.592													14	19					6.31663e-08	7.20629e-08	1	1	0	A	62760841	C	A	62760841	2	1	204	1	0	0	0	0	0	0	0	1	14515	754	26	4		4	SLC22A8	11	62760841	Silent	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	5660721	62760841	72245675	74	9600											
CD248	57124	broad.mit.edu	37	chr11	66084351	66084351	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccccccagctcgcggcaggCccgccaggcctccaggaagg	6	2	14	19	3	0	0	0	0	0	0	2	1	1	1	7	5	1	2	7	5	1	0			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr11:66084351C>T	ENST00000311330.3	-	1	164	c.148G>A	c.(148-150)Gcc>Acc	p.A50T	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	50	C-type lectin.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	TCGCGGCAGGCCCGCCAGGCC	0.766													6	5					0	0	1	0	0	T	66084351	C	T	66084351	3	4	204	1	0	0	0	0	1	0	0	0	3011	739	26	2	2129	2	CD248	11	66084351	Missense_Mutation	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	3323510	66084351	68922165	75	9601											
KDM2A	22992	broad.mit.edu	37	chr11	67017956	67017956	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggacatccattgtgcccaagCtgcaggccatcacggcctcc	8	7	10	16	1	1	0	1	0	0	0	3	1	3	1	5	3	3	2	5	3	1	1			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr11:67017956C>A	ENST00000529006.2	+	17	2901	c.2455C>A	c.(2455-2457)Ctg>Atg	p.L819M	KDM2A_ENST00000530342.1_Missense_Mutation_p.L380M|KDM2A_ENST00000308783.5_Missense_Mutation_p.L277M|KDM2A_ENST00000398645.2_Intron|KDM2A_ENST00000526258.1_3'UTR	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	819					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						TGTGCCCAAGCTGCAGGCCAT	0.622													12	52					0.00185496	0.00195132	1	1	0	A	67017956	C	A	67017956	3	1	204	1	0	0	0	0	1	0	0	0	8168	796	28	4	2517	4	KDM2A	11	67017956	Missense_Mutation	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	933605	67017956	67988560	76	9602											
ME3	10873	broad.mit.edu	37	chr11	86160951	86160951	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgacaatgagccctttagAgtccaccatccagatctttc	10	12	6	13	0	1	4	0	2	1	2	4	4	3	4	4	0	1	0	4	0	2	4			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr11:86160951A>T	ENST00000543262.1	-	10	1437	c.1111T>A	c.(1111-1113)Tct>Act	p.S371T	ME3_ENST00000393324.3_Missense_Mutation_p.S371T|ME3_ENST00000359636.2_Missense_Mutation_p.S371T|RP11-317J19.1_ENST00000524610.1_RNA	NM_001161586.1	NP_001155058.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	371					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	AGCCCTTTAGAGTCCACCATC	0.527													26	62					0	0	1	0	0	T	86160951	A	T	86160951	3	4	204	1	0	0	0	0	1	0	0	0	9469	304	11	5	727	5	ME3	11	86160951	Missense_Mutation	SNP	A	TCGA-HC-A4ZV-01A-11D-A26M-08	19142995	86160951	48845565	77	9603											
FAT3	120114	broad.mit.edu	37	chr11	92086237	92086237	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctggctaaggaaggaaagtGgttgaatgagtacaagatta	15	9	13	4	0	0	3	0	2	0	1	0	5	0	5	1	4	1	3	1	4	7	4			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr11:92086237G>A	ENST00000298047.6	+	1	976	c.959G>A	c.(958-960)tGg>tAg	p.W320*	FAT3_ENST00000409404.2_Nonsense_Mutation_p.W320*|FAT3_ENST00000541502.1_Nonsense_Mutation_p.W320*|FAT3_ENST00000525166.1_Nonsense_Mutation_p.W170*			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	320	Cadherin 3.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GAAGGAAAGTGGTTGAATGAG	0.448										TCGA Ovarian(4;0.039)			4	14					0	0	1	0	0	A	92086237	G	A	92086237	4	1	204	1	0	0	0	0	0	1	0	0	5724	1357	47	2	961	2	FAT3	11	92086237	Nonsense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	5925286	92086237	42920279	78	9604											
FOLR4	390243	broad.mit.edu	37	chr11	94039857	94039857	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccccaaacctggggccctGgatccagccagtgggaagcc	8	5	12	16	0	0	0	0	0	0	0	2	2	2	2	7	4	3	0	7	4	2	0			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr11:94039857G>A	ENST00000440961.2	+	2	361	c.317G>A	c.(316-318)tGg>tAg	p.W106*		NM_001199206.1	NP_001186135.1	A6ND01	FOLR4_HUMAN	folate receptor 4, delta (putative)	106						extracellular region	folic acid binding|receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						CTGGGGCCCTGGATCCAGCCA	0.537													13	29					0	0	1	0	0	A	94039857	G	A	94039857	4	1	204	1	0	0	0	0	0	1	0	0	6017	1357	47	2	323	2	FOLR4	11	94039857	Nonsense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	1953620	94039857	40966659	79	9605											
ATM	472	broad.mit.edu	37	chr11	108214036	108214036	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcttgttaacaatgaagatGgtgctcataaaagatacagg	15	12	9	5	0	2	3	1	1	1	2	2	3	2	3	0	2	3	2	0	2	6	5			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr11:108214036G>A	ENST00000278616.4	+	57	8741	c.8356G>A	c.(8356-8358)Ggt>Agt	p.G2786S	ATM_ENST00000452508.2_Missense_Mutation_p.G2786S|C11orf65_ENST00000526725.1_Intron|C11orf65_ENST00000525729.1_Intron	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2786	PI3K/PI4K.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		CAATGAAGATGGTGCTCATAA	0.413			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			19	59					0	0	1	0	0	A	108214036	G	A	108214036	3	1	204	1	0	0	0	0	1	0	0	0	1108	1348	47	2	8578	2	ATM	11	108214036	Missense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	14174179	108214036	26792480	80	9606											
PCSK7	9159	broad.mit.edu	37	chr11	117079654	117079654	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgatgagggacatcatgccActggggcagaacagcttcag	11	6	13	11	1	2	2	2	1	0	1	2	4	2	3	2	3	3	2	2	3	1	1	rs471009		TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr11:117079654A>T	ENST00000320934.3	-	13	2280	c.1650T>A	c.(1648-1650)agT>agA	p.S550R	PCSK7_ENST00000540028.1_Missense_Mutation_p.S191R	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	550	Homo B/P.				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		ACATCATGCCACTGGGGCAGA	0.607			T	IGH@	MLCLS								3	17					0	0	1	0	0	T	117079654	A	T	117079654	3	4	204	1	0	0	0	0	1	0	0	0	11652	156	6	5	727	5	PCSK7	11	117079654	Missense_Mutation	SNP	A	TCGA-HC-A4ZV-01A-11D-A26M-08	8865618	117079654	17926862	81	9607											
THYN1	29087	broad.mit.edu	37	chr11	134120183	134120183	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttacctggtagttacgaaCaccatcccagcatgttgtct	9	13	7	12	1	2	0	0	0	2	0	3	1	3	0	3	1	4	4	3	1	4	4			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr11:134120183C>T	ENST00000341541.3	-	3	738	c.277G>A	c.(277-279)Gtt>Att	p.V93I	THYN1_ENST00000352327.5_Missense_Mutation_p.V93I|THYN1_ENST00000392594.3_Missense_Mutation_p.V93I|THYN1_ENST00000392595.2_Missense_Mutation_p.V93I	NM_014174.2	NP_054893.1	Q9P016	THYN1_HUMAN	thymocyte nuclear protein 1	93						nucleus				endometrium(2)|kidney(1)|lung(3)|pancreas(1)	7	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;1.68e-10)|all cancers(11;1.95e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00148)|Lung(977;0.207)		TAGTTACGAACACCATCCCAG	0.493													8	28					0	0	1	0	0	T	134120183	C	T	134120183	3	4	204	1	0	0	0	0	1	0	0	0	15946	478	17	2	420	2	THYN1	11	134120183	Missense_Mutation	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	17040529	134120183	886333	82	9608											
WNK1	65125	broad.mit.edu	37	chr12	863369	863369	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gctggagaccaaggccgtggGaatgtctaacgatggccgct	9	7	15	10	3	1	1	0	0	1	1	1	4	1	2	3	4	1	2	3	4	3	1			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr12:863369G>A	ENST00000537687.1	+	1	1281	c.638G>A	c.(637-639)gGa>gAa	p.G213E	WNK1_ENST00000530271.2_Missense_Mutation_p.G213E|WNK1_ENST00000535572.1_Missense_Mutation_p.G213E|WNK1_ENST00000315939.6_Missense_Mutation_p.G213E|WNK1_ENST00000447667.2_Missense_Mutation_p.G213E	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	213					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			AAGGCCGTGGGAATGTCTAAC	0.577													6	54					0	0	1	0	0	A	863369	G	A	863369	3	1	204	1	0	0	0	0	1	0	0	0	17437	1174	41	2	640	2	WNK1	12	863369	Missense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08		863369	132988526	83	9609											
PZP	5858	broad.mit.edu	37	chr12	9317890	9317890	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagtccagcatcttcggacaGgcagaaggcccctgccttcc	9	7	10	15	1	1	1	0	0	1	1	4	2	3	2	5	3	2	2	5	3	2	2			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr12:9317890G>T	ENST00000261336.2	-	19	2360	c.2332C>A	c.(2332-2334)Ctg>Atg	p.L778M	PZP_ENST00000539983.1_5'UTR|PZP_ENST00000381997.2_Missense_Mutation_p.L647M	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TCTTCGGACAGGCAGAAGGCC	0.562													20	58					5.03518e-11	5.86834e-11	1	1	0	T	9317890	G	T	9317890	3	4	204	1	0	0	0	0	1	0	0	0	12921	991	35	4	2188	4	PZP	12	9317890	Missense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	8454521	9317890	124534005	84	9610											
SLCO1B1	10599	broad.mit.edu	37	chr12	21392117	21392117	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggggcagatagtgaaacacaTtgttaaggggagaaaaaaag	18	6	14	3	0	0	3	0	1	0	2	0	4	0	3	0	4	1	2	0	4	6	3			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr12:21392117T>C	ENST00000256958.2	+	15	2166	c.2070T>C	c.(2068-2070)caT>caC	p.H690H		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	690					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	GTGAAACACATTGTTAAGGGG	0.373													23	49					0	0	1	0	0	C	21392117	T	C	21392117	2	2	204	1	0	0	0	0	0	0	0	1	14778	1490	52	3		3	SLCO1B1	12	21392117	Silent	SNP	T	TCGA-HC-A4ZV-01A-11D-A26M-08	12074227	21392117	112459778	85	9611											
DNM1L	10059	broad.mit.edu	37	chr12	32886710	32886710	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaacatccagactttgctgAtgcttgtgggctaatgaaca	13	11	9	8	0	0	3	0	2	0	1	1	3	1	3	1	1	4	3	1	1	4	3			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr12:32886710A>T	ENST00000452533.2	+	13	1672	c.1508A>T	c.(1507-1509)gAt>gTt	p.D503V	YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000549701.1_Missense_Mutation_p.D503V|DNM1L_ENST00000553257.1_Missense_Mutation_p.D516V|DNM1L_ENST00000358214.5_Missense_Mutation_p.D516V|DNM1L_ENST00000547312.1_Missense_Mutation_p.D503V|DNM1L_ENST00000381000.4_Missense_Mutation_p.D516V|DNM1L_ENST00000266481.6_Missense_Mutation_p.D503V|DNM1L_ENST00000414834.2_Missense_Mutation_p.D300V	NM_012062.3|NM_012063.2	NP_036192.2|NP_036193.2	O00429	DNM1L_HUMAN	dynamin 1-like	503	B domain.|Interaction with GSK3B.				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GACTTTGCTGATGCTTGTGGG	0.308													13	91					0	0	1	0	0	T	32886710	A	T	32886710	3	4	204	1	0	0	0	0	1	0	0	0	4698	333	12	5	1558	5	DNM1L	12	32886710	Missense_Mutation	SNP	A	TCGA-HC-A4ZV-01A-11D-A26M-08	11494593	32886710	100965185	86	9612											
RBMS2	5939	broad.mit.edu	37	chr12	56915827	56915827	+	Frame_Shift_Del	DEL	C	C	-																															aatgctgctatccgtgacttCcaggcccgggatttcgactt																										TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr12:56915827delC	ENST00000262031.5	+	1	115	c.20delC	c.(19-21)tcfs	p.S7fs	RBMS2_ENST00000542360.1_5'UTR|RBMS2_ENST00000552247.2_Frame_Shift_Del_p.S7fs|RBMS2_ENST00000550726.1_5'UTR|RBMS2_ENST00000549945.1_3'UTR	NM_002898.3	NP_002889.1	Q15434	RBMS2_HUMAN	RNA binding motif, single stranded interacting protein 2	7					RNA processing	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1)	18						TCCGTGACTTCCAGGCCCGGG	0.478													28	56	---	---	---	---						-	56915827	C	-	56915827	7	5	204	1	0	1	0	1	0	0	0	0	13201	855	30	0	22	0	RBMS2	12	56915827	Frame_Shift_Del	DEL	C	TCGA-HC-A4ZV-01A-11D-A26M-08	24029117	56915827	76936068	87	9613											
UHRF1BP1L	23074	broad.mit.edu	37	chr12	100452198	100452198	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttttgcagatttgtatcacTagctgatttaaaaagcaaag	14	15	7	5	0	1	2	1	1	0	1	1	2	1	2	0	0	3	4	0	0	6	7			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr12:100452198T>A	ENST00000279907.7	-	14	3069	c.2857A>T	c.(2857-2859)Agt>Tgt	p.S953C	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.S603C	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	953										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TTTGTATCACTAGCTGATTTA	0.318													10	8					0	0	1	0	0	A	100452198	T	A	100452198	3	1	204	1	0	0	0	0	1	0	0	0	17029	1522	53	5	1569	5	UHRF1BP1L	12	100452198	Missense_Mutation	SNP	T	TCGA-HC-A4ZV-01A-11D-A26M-08	43536371	100452198	33399697	88	9614											
CCDC60	160777	broad.mit.edu	37	chr12	119942914	119942914	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacaatgcgagtcaccaaccGcaaaccaagccggcgaggct	13	3	10	15	4	1	0	1	0	0	0	1	2	1	0	4	2	4	2	4	2	4	0			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr12:119942914G>A	ENST00000327554.2	+	7	1154	c.689G>A	c.(688-690)cGc>cAc	p.R230H	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	230								p.R230H(2)		endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GTCACCAACCGCAAACCAAGC	0.527													3	53					0	0	1	0	0	A	119942914	G	A	119942914	3	1	204	1	0	0	0	0	1	0	0	0	2851	1087	38	1	715	1	CCDC60	12	119942914	Missense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	19490716	119942914	13908981	89	9615											
BRCA2	675	broad.mit.edu	37	chr13	32906456	32906456	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttaaagtaaatagctgcaaaGaccacattggaaagtcaatg	18	9	8	6	0	1	1	1	0	0	1	1	2	1	2	1	1	2	3	1	1	8	4	rs80359088		TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr13:32906456G>C	ENST00000544455.1	+	10	1068	c.841G>C	c.(841-843)Gac>Cac	p.D281H	BRCA2_ENST00000380152.3_Missense_Mutation_p.D281H	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	281					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TAGCTGCAAAGACCACATTGG	0.289			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			12	12					0	0	1	0	0	C	32906456	G	C	32906456	3	2	204	1	0	0	0	0	1	0	0	0	1501	942	33	4	875	4	BRCA2	13	32906456	Missense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08		32906456	82263422	90	9616											
TRPC4	7223	broad.mit.edu	37	chr13	38213401	38213401	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaggacaacttacttggtaTtggtgatgtcttctcaagtt	10	15	9	7	0	2	1	1	1	2	0	3	2	2	2	0	3	2	2	0	3	5	6			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr13:38213401T>C	ENST00000379705.3	-	9	2972	c.2115A>G	c.(2113-2115)caA>caG	p.Q705Q	TRPC4_ENST00000379673.2_Silent_p.Q640Q|TRPC4_ENST00000379681.3_Silent_p.Q710Q|TRPC4_ENST00000447043.1_Silent_p.Q705Q|TRPC4_ENST00000338947.5_Silent_p.Q532Q|TRPC4_ENST00000358477.2_Silent_p.Q705Q|TRPC4_ENST00000355779.2_Silent_p.Q705Q|TRPC4_ENST00000379679.1_Silent_p.Q532Q|TRPC4_ENST00000426868.2_3'UTR			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	705	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TTACTTGGTATTGGTGATGTC	0.338													22	52					0	0	1	0	0	C	38213401	T	C	38213401	2	2	204	1	0	0	0	0	0	0	0	1	16641	1490	52	3		3	TRPC4	13	38213401	Silent	SNP	T	TCGA-HC-A4ZV-01A-11D-A26M-08	5306945	38213401	76956477	91	9617											
RPS6KA5	9252	broad.mit.edu	37	chr14	91338504	91338504	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgcagtgtcttggtgggtgTagttttaccgtgagaatgag	7	14	15	5	1	1	2	0	2	1	1	1	3	1	2	1	2	2	3	1	2	3	4			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr14:91338504T>A	ENST00000261991.3	-	17	2496	c.2323A>T	c.(2323-2325)Aca>Tca	p.T775S	RPS6KA5_ENST00000536315.2_Missense_Mutation_p.T696S	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	775					axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		TTGGTGGGTGTAGTTTTACCG	0.502													28	31					0	0	1	0	0	A	91338504	T	A	91338504	3	1	204	1	0	0	0	0	1	0	0	0	13706	1638	57	5	89	5	RPS6KA5	14	91338504	Missense_Mutation	SNP	T	TCGA-HC-A4ZV-01A-11D-A26M-08		91338504	16011036	92	9618											
FBLN5	10516	broad.mit.edu	37	chr14	92403440	92403440	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggggttcgagtagggccctCgatacacagggtttgtccgg	7	9	16	9	3	0	0	0	0	0	0	3	2	1	0	2	5	1	3	2	5	2	4			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr14:92403440C>T	ENST00000267620.10	-	5	522	c.353G>A	c.(352-354)cGa>cAa	p.R118Q	FBLN5_ENST00000556154.1_Missense_Mutation_p.R82Q|FBLN5_ENST00000342058.4_Missense_Mutation_p.R77Q			Q9UBX5	FBLN5_HUMAN	fibulin 5	77					cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				gtagggCCCTCGATACACAGG	0.572													13	25					0	0	1	0	0	T	92403440	C	T	92403440	3	4	204	1	0	0	0	0	1	0	0	0	5733	884	31	1	1148	1	FBLN5	14	92403440	Missense_Mutation	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	1064936	92403440	14946100	93	9619											
CYFIP1	23191	broad.mit.edu	37	chr15	22929865	22929865	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaagaacatgaagtgcaGtgtgaagaacgaccactcag	15	6	12	8	1	1	5	1	3	0	2	1	6	1	5	1	0	3	2	1	0	5	0			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr15:22929865G>T	ENST00000313077.7	+	6	664	c.539G>T	c.(538-540)aGt>aTt	p.S180I	CYFIP1_ENST00000560848.1_Missense_Mutation_p.S180I	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	180					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		ATGAAGTGCAGTGTGAAGAAC	0.572													16	39					0.00498961	0.00521495	1	1	0	T	22929865	G	T	22929865	3	4	204	1	0	0	0	0	1	0	0	0	4160	1029	36	4	557	4	CYFIP1	15	22929865	Missense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08		22929865	79601527	94	9620											
ZNF770	54989	broad.mit.edu	37	chr15	35275428	35275428	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agttagttgatgcctctccaGatgaactagttgtctaaagg	11	13	10	7	0	2	3	0	2	2	1	3	3	2	3	2	1	2	3	2	1	5	5			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr15:35275428G>C	ENST00000356321.4	-	3	552	c.208C>G	c.(208-210)Ctg>Gtg	p.L70V		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	70					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		TGCCTCTCCAGATGAACTAGT	0.363													6	21					0	0	1	0	0	C	35275428	G	C	35275428	3	2	204	1	0	0	0	0	1	0	0	0	18193	933	33	4	1871	4	ZNF770	15	35275428	Missense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	12345563	35275428	67255964	95	9621											
UACA	55075	broad.mit.edu	37	chr15	70959286	70959286	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctattcagattggccaatTtttcatttaagctagaaatc	12	17	5	7	0	3	2	2	0	1	2	4	2	3	2	1	1	1	1	1	1	5	9			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr15:70959286T>A	ENST00000322954.6	-	16	3922	c.3737A>T	c.(3736-3738)aAa>aTa	p.K1246I	UACA_ENST00000379983.2_Missense_Mutation_p.K1233I|UACA_ENST00000539319.1_Missense_Mutation_p.K1137I|UACA_ENST00000560441.1_Missense_Mutation_p.K1231I	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	1246						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						ATTGGCCAATTTTTCATTTAA	0.328													23	36					0	0	1	0	0	A	70959286	T	A	70959286	3	1	204	1	0	0	0	0	1	0	0	0	16885	1841	64	5	529	5	UACA	15	70959286	Missense_Mutation	SNP	T	TCGA-HC-A4ZV-01A-11D-A26M-08	35683858	70959286	31572106	96	9622											
C16orf11	146325	broad.mit.edu	37	chr16	614264	614264	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccagggacccagggcaggagGgggagctggagcgggcagcc	8	1	21	11	1	0	0	0	0	0	0	0	4	0	4	3	7	3	3	3	7	0	0			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr16:614264G>T	ENST00000409413.3	+	2	1249	c.970G>T	c.(970-972)Ggg>Tgg	p.G324W		NM_145270.2	NP_660313.1	P0CG20	CP011_HUMAN	chromosome 16 open reading frame 11	324	Pro-rich.									central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						AGGGCAGGAGGGGGAGCTGGA	0.701													6	0					2.0095e-06	2.19959e-06	1	1	0	T	614264	G	T	614264	3	4	204	1	0	0	0	0	1	0	0	0	1817	1232	43	4	972	4	C16orf11	16	614264	Missense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08		614264	89740489	97	9623											
GRIN2A	0	broad.mit.edu	37	chr16	9934873	9934873	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagatagaggtcgtaagtaaActtcacagttctggaaagct	14	10	10	7	1	2	2	1	0	1	2	3	3	2	3	0	2	2	4	0	2	5	5			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr16:9934873A>T	ENST00000396573.2	-	7	1726	c.1417T>A	c.(1417-1419)Ttt>Att	p.F473I	GRIN2A_ENST00000535259.1_Missense_Mutation_p.F316I|GRIN2A_ENST00000562109.1_Missense_Mutation_p.F473I|GRIN2A_ENST00000404927.2_Missense_Mutation_p.F473I|GRIN2A_ENST00000396575.2_Missense_Mutation_p.F473I|GRIN2A_ENST00000330684.3_Missense_Mutation_p.F473I	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	473					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCGTAAGTAAACTTCACAGTT	0.403													31	70					0	0	1	0	0	T	9934873	A	T	9934873	3	4	204	1	0	0	0	0	1	0	0	0	6820	43	2	5	3009	5	GRIN2A	16	9934873	Missense_Mutation	SNP	A	TCGA-HC-A4ZV-01A-11D-A26M-08	9320609	9934873	80419880	98	9624											
SRCAP	10847	broad.mit.edu	37	chr16	30749840	30749840	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccccagcagcccttcattGctcgccgtcacattgagctg	7	9	8	17	2	2	1	2	1	0	0	3	1	2	1	4	0	4	3	4	0	0	3			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr16:30749840G>A	ENST00000262518.4	+	34	8864	c.8479G>A	c.(8479-8481)Gct>Act	p.A2827T	SRCAP_ENST00000395059.2_Missense_Mutation_p.A2765T|SRCAP_ENST00000344771.4_Missense_Mutation_p.A2669T	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2827	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GCCCTTCATTGCTCGCCGTCA	0.632													22	22					0	0	1	0	0	A	30749840	G	A	30749840	3	1	204	1	0	0	0	0	1	0	0	0	15191	1319	46	2	8605	2	SRCAP	16	30749840	Missense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	20814967	30749840	59604913	99	9625											
SSH2	85464	broad.mit.edu	37	chr17	27999097	27999097	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ataggctgcctgggtagtagTtatgcgctctggcgacttca	7	12	13	9	2	2	0	1	0	1	0	2	1	2	0	1	3	2	5	1	3	4	5			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr17:27999097T>G	ENST00000269033.3	-	8	735	c.584A>C	c.(583-585)aAc>aCc	p.N195T	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.N222T	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	195					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGGGTAGTAGTTATGCGCTCT	0.463													18	27					0	0	1	0	0	G	27999097	T	G	27999097	3	3	204	1	0	0	0	0	1	0	0	0	15241	1725	60	5	3719	5	SSH2	17	27999097	Missense_Mutation	SNP	T	TCGA-HC-A4ZV-01A-11D-A26M-08		27999097	53196113	100	9626											
RAB11FIP4	84440	broad.mit.edu	37	chr17	29761110	29761110	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgcggggacgctgccgtgCgcgccagagatcccagactg	7	4	16	14	6	0	2	0	0	0	2	1	4	1	3	3	2	3	1	3	2	0	0			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr17:29761110C>T	ENST00000325874.8	+	3	535	c.306C>T	c.(304-306)tgC>tgT	p.C102C		NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	102	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding	p.?(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				CGCTGCCGTGCGCGCCAGAGA	0.642													3	11					0	0	1	0	0	T	29761110	C	T	29761110	2	4	204	1	0	0	0	0	0	0	0	1	12948	776	27	1		1	RAB11FIP4	17	29761110	Silent	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	1762013	29761110	51434100	101	9627											
GAS2L2	246176	broad.mit.edu	37	chr17	34074193	34074193	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctgtgagcggctgatggtCattgtaggctgggtctgtga	5	13	16	7	1	3	3	1	3	2	0	3	3	3	3	0	4	1	3	0	4	1	2			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr17:34074193C>T	ENST00000254466.6	-	5	954	c.927G>A	c.(925-927)atG>atA	p.M309I	GAS2L2_ENST00000587565.1_Missense_Mutation_p.M293I	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	309					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGCTGATGGTCATTGTAGGCT	0.612													52	98					0	0	1	0	0	T	34074193	C	T	34074193	3	4	204	1	0	0	0	0	1	0	0	0	6287	826	29	2	1723	2	GAS2L2	17	34074193	Missense_Mutation	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	4313083	34074193	47121017	102	9628											
GRB7	2886	broad.mit.edu	37	chr17	37903005	37903005	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctttactgtaccccagaGcgaggaggagggccgcctgt	7	7	13	14	2	0	1	0	0	0	1	0	4	0	3	6	3	3	1	6	3	2	3			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr17:37903005G>A	ENST00000309156.4	+	15	1711	c.1452_splice	c.e15-1	p.S485_splice	GRB7_ENST00000309185.3_3'UTR|GRB7_ENST00000394209.2_Splice_Site_p.S485_splice|GRB7_ENST00000394211.3_Splice_Site_p.S485_splice|GRB7_ENST00000394204.1_3'UTR|GRB7_ENST00000445327.2_Splice_Site_p.S508_splice	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	485	SH2.				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GTACCCCAGAGCGAGGAGGAG	0.607													5	102					0	0	1	0	0	A	37903005	G	A	37903005	5	1	204	1	0	0	0	0	0	0	1	0	6800	985	34	2	1508	2	GRB7	17	37903005	Splice_Site	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	3828812	37903005	43292205	103	9629											
EPN3	55040	broad.mit.edu	37	chr17	48614289	48614289	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccagggcgtcaacgtgcgCgagaaggtcaagcaggtgat	11	5	16	9	4	2	2	2	1	0	1	2	4	2	2	1	3	3	1	1	3	3	0	rs139261708	byFrequency	TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr17:48614289C>T	ENST00000268933.3	+	2	951	c.372C>T	c.(370-372)cgC>cgT	p.R124R	EPN3_ENST00000541226.1_Silent_p.R68R|EPN3_ENST00000537145.1_Silent_p.R179R	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	124	ENTH.					clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			TCAACGTGCGCGAGAAGGTCA	0.637													22	32					0	0	1	0	0	T	48614289	C	T	48614289	2	4	204	1	0	0	0	0	0	0	0	1	5215	755	27	1		1	EPN3	17	48614289	Silent	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	10711284	48614289	32580921	104	9630											
ABCC3	8714	broad.mit.edu	37	chr17	48741195	48741195	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggggtgaagtttcgtactggGatcatgggtgtcatctacag	8	12	15	6	1	3	1	2	1	1	0	4	2	3	2	0	4	2	2	0	4	3	3			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr17:48741195G>T	ENST00000285238.8	+	9	1232	c.1152G>T	c.(1150-1152)ggG>ggT	p.G384G	ABCC3_ENST00000427699.1_Silent_p.G384G	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	384	ABC transmembrane type-1 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	TTCGTACTGGGATCATGGGTG	0.557													18	33					2.35188e-11	2.7609e-11	1	1	0	T	48741195	G	T	48741195	2	4	204	1	0	0	0	0	0	0	0	1	54	1161	41	4		4	ABCC3	17	48741195	Silent	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	126906	48741195	32454015	105	9631											
APPBP2	10513	broad.mit.edu	37	chr17	58525052	58525052	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatctgtcactgaatattGccgatctcgcaaccggttcc	9	11	8	13	3	3	1	1	1	2	0	5	2	4	1	3	1	3	3	3	1	3	3			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr17:58525052G>A	ENST00000083182.3	-	13	1935	c.1648C>T	c.(1648-1650)Caa>Taa	p.Q550*		NM_006380.2	NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2	550					intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			ACTGAATATTGCCGATCTCGC	0.448													42	85					0	0	1	0	0	A	58525052	G	A	58525052	4	1	204	1	0	0	0	0	0	1	0	0	813	1328	46	2	113	2	APPBP2	17	58525052	Nonsense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	9783857	58525052	22670158	106	9632											
PSMC5	5705	broad.mit.edu	37	chr17	61908885	61908885	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcccggctggacattttgaAgattcattctcggaagatga	10	11	12	8	2	2	4	1	2	1	2	3	6	2	6	1	4	0	1	1	4	2	4			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr17:61908885A>T	ENST00000310144.6	+	10	1297	c.989A>T	c.(988-990)aAg>aTg	p.K330M	PSMC5_ENST00000581882.1_Missense_Mutation_p.K322M|PSMC5_ENST00000580864.1_Missense_Mutation_p.K322M|PSMC5_ENST00000375812.4_Missense_Mutation_p.K322M	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5	330					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of programmed cell death|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|thyrotropin-releasing hormone receptor binding|transcription cofactor activity|transcription factor binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						GACATTTTGAAGATTCATTCT	0.542													30	65					0	0	1	0	0	T	61908885	A	T	61908885	3	4	204	1	0	0	0	0	1	0	0	0	12739	72	3	5	1027	5	PSMC5	17	61908885	Missense_Mutation	SNP	A	TCGA-HC-A4ZV-01A-11D-A26M-08	3383833	61908885	19286325	107	9633											
BPTF	2186	broad.mit.edu	37	chr17	65940437	65940437	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctttaccccattggcaacaAcagccaccacagccagcacc	12	6	5	18	0	1	0	0	0	1	0	1	0	1	0	6	1	6	2	6	1	3	3			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr17:65940437A>G	ENST00000321892.4	+	22	7088	c.7027A>G	c.(7027-7029)Aca>Gca	p.T2343A	BPTF_ENST00000424123.3_Missense_Mutation_p.T2204A|BPTF_ENST00000577770.1_3'UTR|BPTF_ENST00000335221.5_Missense_Mutation_p.T2343A|BPTF_ENST00000306378.6_Missense_Mutation_p.T2217A			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2343	Thr-rich.				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			ATTGGCAACAACAGCCACCAC	0.537													31	40					0	0	1	0	0	G	65940437	A	G	65940437	3	3	204	1	0	0	0	0	1	0	0	0	1497	43	2	3	7113	3	BPTF	17	65940437	Missense_Mutation	SNP	A	TCGA-HC-A4ZV-01A-11D-A26M-08	4031552	65940437	15254773	108	9634											
EMILIN2	84034	broad.mit.edu	37	chr18	2892339	2892339	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aagcatgtcagcagcctgtgGaactgtgtcaggcagatgaa	12	8	13	8	0	2	2	2	1	0	1	2	3	2	3	1	2	4	3	1	2	3	0			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr18:2892339G>C	ENST00000254528.3	+	4	2373	c.2214G>C	c.(2212-2214)tgG>tgC	p.W738C		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	738					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		GCAGCCTGTGGAACTGTGTCA	0.507													11	13					0	0	1	0	0	C	2892339	G	C	2892339	3	2	204	1	0	0	0	0	1	0	0	0	5122	1183	41	4	2228	4	EMILIN2	18	2892339	Missense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08		2892339	75184909	109	9635											
CEP76	79959	broad.mit.edu	37	chr18	12699203	12699203	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgtgttggatcaatattagCtgtaaagtgtagcaatatat	13	14	9	5	1	1	0	1	0	0	0	1	1	1	1	1	1	2	5	1	1	9	7			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr18:12699203C>A	ENST00000262127.2	-	4	521		c.e4-1		RP11-973H7.2_ENST00000585331.1_RNA|CEP76_ENST00000586887.1_Intron|CEP76_ENST00000423709.2_Intron	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa						G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCAATATTAGCTGTAAAGTGT	0.363													16	18					1.45105e-14	1.75426e-14	1	1	0	A	12699203	C	A	12699203	5	1	204	1	0	0	0	0	0	0	1	0	3283	811	28	4	1720	4	CEP76	18	12699203	Splice_Site	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	9806864	12699203	65378045	110	9636											
ADAMTS10	81794	broad.mit.edu	37	chr19	8670020	8670020	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcccgtgtccagtactcCacggagacgtgccctgccag	6	7	10	18	3	0	1	0	0	0	1	3	2	3	1	6	1	3	1	6	1	1	1			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr19:8670020C>A	ENST00000270328.4	-	3	578	c.312G>T	c.(310-312)gtG>gtT	p.V104V	ADAMTS10_ENST00000597188.1_Silent_p.V104V|ADAMTS10_ENST00000596709.1_5'UTR			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	104					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						TCCAGTACTCCACGGAGACGT	0.687													5	27					0.00116845	0.00123718	1	1	0	A	8670020	C	A	8670020	2	1	204	1	0	0	0	0	0	0	0	1	255	581	21	4		4	ADAMTS10	19	8670020	Silent	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08		8670020	50458963	111	9637											
EMR2	30817	broad.mit.edu	37	chr19	14887554	14887554	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttaccgagaaagacgagaaaGacgcggcctcccatggttcc	12	6	11	12	4	0	4	0	0	0	4	2	6	2	4	4	2	1	1	4	2	3	2			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr19:14887554G>C	ENST00000315576.3	-	2	466	c.15C>G	c.(13-15)gtC>gtG	p.V5V	EMR2_ENST00000346057.1_Silent_p.V5V|EMR2_ENST00000353005.1_Silent_p.V5V|EMR2_ENST00000594076.1_Silent_p.V5V|EMR2_ENST00000392967.2_Silent_p.V5V|EMR2_ENST00000353876.1_Silent_p.V5V|EMR2_ENST00000601345.1_Silent_p.V5V|EMR2_ENST00000599423.1_5'UTR|EMR2_ENST00000595839.1_Silent_p.V5V|EMR2_ENST00000594294.1_Silent_p.V5V|EMR2_ENST00000596991.2_Silent_p.V5V|EMR2_ENST00000392965.3_Silent_p.V5V	NM_013447.2	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	5					cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						AGACGAGAAAGACGCGGCCTC	0.652													4	13					0	0	1	0	0	C	14887554	G	C	14887554	2	2	204	1	0	0	0	0	0	0	0	1	5133	929	33	4		4	EMR2	19	14887554	Silent	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	6217534	14887554	44241429	112	9638											
CHERP	10523	broad.mit.edu	37	chr19	16630018	16630018	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgggcgatgaaggagtagctCttgttcctgcggtagttctc	6	12	14	9	3	2	1	0	1	2	0	4	3	3	2	1	3	2	5	1	3	3	5			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr19:16630018C>G	ENST00000546361.2	-	17	2854	c.2703G>C	c.(2701-2703)aaG>aaC	p.K901N	CHERP_ENST00000198939.6_Missense_Mutation_p.K912N|CTD-3222D19.2_ENST00000409035.1_3'UTR|CHERP_ENST00000544299.1_5'UTR|C19orf44_ENST00000221671.3_Intron	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum protein	901					cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						AGGAGTAGCTCTTGTTCCTGC	0.642													17	21					0	0	1	0	0	G	16630018	C	G	16630018	3	3	204	1	0	0	0	0	1	0	0	0	3358	912	32	4	51	4	CHERP	19	16630018	Missense_Mutation	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	1742464	16630018	42498965	113	9639											
ABHD8	79575	broad.mit.edu	37	chr19	17405251	17405251	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggagtacgaaggatgacacgTtgaaagcgttgccctccttt	10	10	12	9	3	0	2	0	2	0	0	1	5	1	4	2	2	3	3	2	2	3	4			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr19:17405251T>G	ENST00000247706.3	-	4	1234	c.995A>C	c.(994-996)aAc>aCc	p.N332T	MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000595444.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	332							hydrolase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						GGATGACACGTTGAAAGCGTT	0.642													38	85					0	0	1	0	0	G	17405251	T	G	17405251	3	3	204	1	0	0	0	0	1	0	0	0	87	1725	60	5	332	5	ABHD8	19	17405251	Missense_Mutation	SNP	T	TCGA-HC-A4ZV-01A-11D-A26M-08	775233	17405251	41723732	114	9640											
COMP	1311	broad.mit.edu	37	chr19	18897449	18897449	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctagggcagttgtcggcctGgttgcggatccctgcagaaa	7	9	14	11	2	0	1	0	0	0	1	2	2	1	2	3	4	2	4	3	4	2	3			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr19:18897449G>C	ENST00000542601.2	-	10	1437	c.1048C>G	c.(1048-1050)Cag>Gag	p.Q350E	COMP_ENST00000425807.1_Missense_Mutation_p.Q330E|COMP_ENST00000222271.2_Missense_Mutation_p.Q383E			P49747	COMP_HUMAN	cartilage oligomeric matrix protein	383					anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding			breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						TTGTCGGCCTGGTTGCGGATC	0.577													17	26					0	0	1	0	0	C	18897449	G	C	18897449	3	2	204	1	0	0	0	0	1	0	0	0	3747	1357	47	4	1162	4	COMP	19	18897449	Missense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	1492198	18897449	40231534	115	9641											
CCDC9	26093	broad.mit.edu	37	chr19	47773663	47773663	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacccgttatctttcccccaGgttcaaggatggcccagtcc	7	10	8	16	1	2	0	1	0	1	0	4	1	4	1	5	3	0	2	5	3	2	3			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr19:47773663G>A	ENST00000221922.6	+	9	1124		c.e9-1			NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		CTTTCCCCCAGGTTCAAGGAT	0.592													8	24					0	0	1	0	0	A	47773663	G	A	47773663	5	1	204	1	0	0	0	0	0	0	1	0	2887	1014	35	2	932	2	CCDC9	19	47773663	Splice_Site	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	28876214	47773663	11355320	116	9642											
TEAD2	8463	broad.mit.edu	37	chr19	49858558	49858558	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccacgtcccacaatccccaAcctggaccacctgaggacca	11	4	6	20	1	0	1	0	1	0	0	2	3	2	3	8	2	1	0	8	2	2	0			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr19:49858558A>G	ENST00000377214.4	-	4	840		c.e4+1		TEAD2_ENST00000598397.1_Splice_Site|TEAD2_ENST00000539846.1_Splice_Site|TEAD2_ENST00000598810.1_Intron|TEAD2_ENST00000593945.1_Intron|TEAD2_ENST00000311227.2_Intron|TEAD2_ENST00000601519.1_Splice_Site			Q15562	TEAD2_HUMAN	TEA domain family member 2						hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		ACAATCCCCAACCTGGACCAC	0.587													15	43					0	0	1	0	0	G	49858558	A	G	49858558	5	3	204	1	0	0	0	0	0	0	1	0	15798	58	2	3		3	TEAD2	19	49858558	Splice_Site	SNP	A	TCGA-HC-A4ZV-01A-11D-A26M-08	2084895	49858558	9270425	117	9643											
PRMT1	0	broad.mit.edu	37	chr19	50187286	50187286	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctactgcctcttctacgagtCcatgctcaacaccgtgctct	7	12	6	16	2	4	0	1	0	3	0	5	1	5	0	3	0	6	2	3	0	3	3			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr19:50187286C>G	ENST00000532489.1	+	6	883	c.377C>G	c.(376-378)tCc>tGc	p.S126C	PRMT1_ENST00000454376.2_Missense_Mutation_p.S172C|PRMT1_ENST00000391851.4_Missense_Mutation_p.S154C			Q8WUW5	Q8WUW5_HUMAN	protein arginine methyltransferase 1	153						cytoplasm	protein methyltransferase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2)	12		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)		TTCTACGAGTCCATGCTCAAC	0.607													4	74					0	0	1	0	0	G	50187286	C	G	50187286	3	3	204	1	0	0	0	0	1	0	0	0	12587	855	30	4	537	4	PRMT1	19	50187286	Missense_Mutation	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	328728	50187286	8941697	118	9644											
SIGLEC9	27180	broad.mit.edu	37	chr19	51628471	51628471	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggccacaaacaacccagcTcgggcagtgtgggaggagac	11	4	15	11	1	0	1	0	0	0	1	1	3	0	2	2	4	3	2	2	4	2	0			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr19:51628471T>G	ENST00000440804.3	+	1	307	c.240T>G	c.(238-240)gcT>gcG	p.A80A	SIGLEC9_ENST00000250360.3_Silent_p.A80A	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	80	Ig-like V-type.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		ACAACCCAGCTCGGGCAGTGT	0.572													28	72					0	0	1	0	0	G	51628471	T	G	51628471	2	3	204	1	0	0	0	0	0	0	0	1	14370	1538	54	5		5	SIGLEC9	19	51628471	Silent	SNP	T	TCGA-HC-A4ZV-01A-11D-A26M-08	1441185	51628471	7500512	119	9645											
ZFP28	140612	broad.mit.edu	37	chr19	57065052	57065052	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttttcttggtatctttcaGgccagcgatctgtacatgag	7	16	10	8	1	4	1	1	1	3	0	4	2	4	1	1	2	2	3	1	2	2	6			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr19:57065052G>C	ENST00000301318.3	+	8	969		c.e8-1		AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		GTATCTTTCAGGCCAGCGATC	0.373													14	35					0	0	1	0	0	C	57065052	G	C	57065052	5	2	204	1	0	0	0	0	0	0	1	0	17700	1014	35	4	928	4	ZFP28	19	57065052	Splice_Site	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	5436581	57065052	2063931	120	9646											
FASTKD5	60493	broad.mit.edu	37	chr20	3128064	3128064	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggctttgaattcatatcCttctctgctaaataccacag	11	14	5	11	0	3	1	2	1	1	0	5	1	4	1	2	1	2	2	2	1	5	6			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr20:3128064C>T	ENST00000380266.3	-	2	1974	c.1653G>A	c.(1651-1653)aaG>aaA	p.K551K	UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Intron|UBOX5_ENST00000217173.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	551					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						AATTCATATCCTTCTCTGCTA	0.448													10	35					0	0	1	0	0	T	3128064	C	T	3128064	2	4	204	1	0	0	0	0	0	0	0	1	5721	680	24	2		2	FASTKD5	20	3128064	Silent	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08		3128064	59897456	121	9647											
ZSWIM3	140831	broad.mit.edu	37	chr20	44506572	44506572	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtccaagaaggcttttggaAtctgtggagagagccttacc	11	10	12	8	0	1	2	0	0	1	2	2	5	2	4	3	3	2	1	3	3	4	3			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr20:44506572A>T	ENST00000255152.2	+	2	1584	c.1375A>T	c.(1375-1377)Atc>Ttc	p.I459F	ZSWIM3_ENST00000454862.2_Missense_Mutation_p.I453F	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	459							zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				GGCTTTTGGAATCTGTGGAGA	0.542													14	21					0	0	1	0	0	T	44506572	A	T	44506572	3	4	204	1	0	0	0	0	1	0	0	0	18282	101	4	5	1381	5	ZSWIM3	20	44506572	Missense_Mutation	SNP	A	TCGA-HC-A4ZV-01A-11D-A26M-08	41378508	44506572	18518948	122	9648											
LSM14B	149986	broad.mit.edu	37	chr20	60708507	60708507	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttcccacagggccgggactgGcagggtgtgagggtgcagcc	6	6	18	11	1	0	1	0	1	0	0	1	2	1	2	3	5	2	2	3	5	0	1			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr20:60708507G>T	ENST00000253001.4	+	8	1354	c.1148G>T	c.(1147-1149)gGc>gTc	p.G383V	LSM14B_ENST00000279068.6_Missense_Mutation_p.G383V			Q9BX40	LS14B_HUMAN	LSM14B, SCD6 homolog B (S. cerevisiae)	383					multicellular organismal development|regulation of translation	ribonucleoprotein complex				endometrium(3)|kidney(1)|lung(4)	8	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			GCCGGGACTGGCAGGGTGTGA	0.637													16	30					6.49762e-13	7.73981e-13	1	1	0	T	60708507	G	T	60708507	3	4	204	1	0	0	0	0	1	0	0	0	9100	1203	42	4	1178	4	LSM14B	20	60708507	Missense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	16201935	60708507	2317013	123	9649											
DIDO1	11083	broad.mit.edu	37	chr20	61513601	61513601	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagggcttcttttccgacTgcgggactgtggctactttt	4	15	13	9	2	1	0	0	0	1	0	2	3	2	2	1	4	2	2	1	4	1	6			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr20:61513601T>C	ENST00000266070.4	-	16	4032	c.3707A>G	c.(3706-3708)cAg>cGg	p.Q1236R	DIDO1_ENST00000395343.1_Missense_Mutation_p.Q1236R	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1236					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CTTTTCCGACTGCGGGACTGT	0.592													44	110					0	0	1	0	0	C	61513601	T	C	61513601	3	2	204	1	0	0	0	0	1	0	0	0	4550	1580	55	3	3019	3	DIDO1	20	61513601	Missense_Mutation	SNP	T	TCGA-HC-A4ZV-01A-11D-A26M-08	805094	61513601	1511919	124	9650											
ZBTB46	140685	broad.mit.edu	37	chr20	62384051	62384051	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactcaccagcgtgtggcgCttcatgtgctcgcgccgcgt	4	9	13	15	6	2	0	2	0	0	0	3	0	2	0	2	1	2	3	2	1	0	1			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr20:62384051C>T	ENST00000245663.4	-	4	1536	c.1386G>A	c.(1384-1386)aaG>aaA	p.K462K	ZBTB46_ENST00000395104.1_Silent_p.K462K|ZBTB46_ENST00000302995.2_Silent_p.K462K	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	462					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					GCGTGTGGCGCTTCATGTGCT	0.701													7	10					0	0	1	0	0	T	62384051	C	T	62384051	2	4	204	1	0	0	0	0	0	0	0	1	17606	796	28	2		2	ZBTB46	20	62384051	Silent	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	870450	62384051	641469	125	9651											
KRTAP27-1	643812	broad.mit.edu	37	chr21	31710000	31710000	+	Translation_Start_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggcatattgctaaaaatcCttaaagatggtcataaggac	16	10	9	6	0	1	1	1	0	0	1	2	3	2	2	1	3	1	2	1	3	7	5			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr21:31710000C>A	ENST00000382835.2	-	0	12					NM_001077711.1	NP_001071179.1	Q3LI81	KR271_HUMAN	keratin associated protein 27-1							intermediate filament				endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						GCTAAAAATCCTTAAAGATGG	0.438													12	20					0.105934	0.107933	1	1	0	A	31710000	C	A	31710000	1	1	204	1	0	0	0	0	0	0	0	0	8588	696	24	4		4	KRTAP27-1	21	31710000	Translation_Start_Site	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08		31710000	16419895	126	9652											
PCP4	5121	broad.mit.edu	37	chr21	41301036	41301036	+	Nonstop_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggctgggtctcagtcctaGtgggagaaccccctcctagt	8	9	12	12	0	1	1	1	0	1	1	4	2	3	1	4	3	1	1	4	3	4	2			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr21:41301036G>C	ENST00000328619.5	+	3	374	c.189G>C	c.(187-189)taG>taC	p.*63Y	PCP4_ENST00000468717.1_3'UTR	NM_006198.2	NP_006189.2	P48539	PCP4_HUMAN	Purkinje cell protein 4	0					central nervous system development	cytosol|nucleus				large_intestine(2)|lung(1)|skin(1)	4		Prostate(19;2.65e-06)|all_epithelial(19;0.138)				CTCAGTCCTAGTGGGAGAACC	0.468													7	27					0	0	1	0	0	C	41301036	G	C	41301036	4	2	204	1	0	0	0	0	0	0	0	0	11645	1024	36	4	199	4	PCP4	21	41301036	Nonstop_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	9591036	41301036	6828859	127	9653											
KRTAP10-4	386672	broad.mit.edu	37	chr21	45994012	45994012	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaagcctgtgtgctgtgTgcccgtctgctgtggggatt	3	13	15	10	1	1	0	0	0	1	0	1	1	1	1	2	2	5	3	2	2	1	1			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr21:45994012T>G	ENST00000400374.3	+	1	407	c.377T>G	c.(376-378)gTg>gGg	p.V126G	TSPEAR_ENST00000323084.4_Intron	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	126	36 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						GTGTGCTGTGTGCCCGTCTGC	0.642													34	252					0	0	1	0	0	G	45994012	T	G	45994012	3	3	204	1	0	0	0	0	1	0	0	0	8554	1696	59	5	379	5	KRTAP10-4	21	45994012	Missense_Mutation	SNP	T	TCGA-HC-A4ZV-01A-11D-A26M-08	4692976	45994012	2135883	128	9654											
MRPL40	64976	broad.mit.edu	37	chr22	19423224	19423224	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagctctgcttctgaagaaGtggtccttgtacaagcagca	11	10	11	9	0	2	3	0	1	2	2	3	3	3	3	1	1	5	5	1	1	4	3			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr22:19423224G>T	ENST00000333130.3	+	4	1013	c.360G>T	c.(358-360)aaG>aaT	p.K120N	HIRA_ENST00000546308.1_Intron|MRPL40_ENST00000471259.1_3'UTR|HIRA_ENST00000541063.1_Intron	NM_003776.2	NP_003767.2	Q9NQ50	RM40_HUMAN	mitochondrial ribosomal protein L40	120					anatomical structure morphogenesis	mitochondrial ribosome|nucleus				endometrium(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					TTCTGAAGAAGTGGTCCTTGT	0.527													59	114					5.47352e-35	6.667e-35	1	1	0	T	19423224	G	T	19423224	3	4	204	1	0	0	0	0	1	0	0	0	9853	1020	36	4	374	4	MRPL40	22	19423224	Missense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08		19423224	31881342	129	9655											
MN1	4330	broad.mit.edu	37	chr22	28193262	28193262	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcggtccgtgttccccggcGcctaccccacggggagggag	4	7	15	15	5	0	0	0	0	0	0	3	2	2	2	6	5	1	1	6	5	1	3	rs147753551	by1000genomes	TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr22:28193262G>A	ENST00000302326.4	-	1	4224	c.3270C>T	c.(3268-3270)ggC>ggT	p.G1090G		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	1090							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GTTCCCCGGCGCCTACCCCAC	0.687			T	ETV6	"AML, meningioma"								6	12					0	0	1	0	0	A	28193262	G	A	28193262	2	1	204	1	0	0	0	0	0	0	0	1	9722	1074	38	1		1	MN1	22	28193262	Silent	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	8770038	28193262	23111304	130	9656											
TRIOBP	11078	broad.mit.edu	37	chr22	38121937	38121937	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaccccgggcctcctcccCaccacgccaggccccagagc	6	3	9	23	2	0	1	0	0	0	1	2	1	2	1	10	2	2	1	10	2	0	0			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chr22:38121937C>T	ENST00000406386.3	+	7	3629	c.3374C>T	c.(3373-3375)cCa>cTa	p.P1125L	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1125					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GCCTCCTCCCCACCACGCCAG	0.637													6	138					0	0	1	0	0	T	38121937	C	T	38121937	3	4	204	1	0	0	0	0	1	0	0	0	16614	594	21	2	3392	2	TRIOBP	22	38121937	Missense_Mutation	SNP	C	TCGA-HC-A4ZV-01A-11D-A26M-08	9928675	38121937	13182629	131	9657											
KAL1	3730	broad.mit.edu	37	chrX	8553409	8553409	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accatcggctgggtcttatgTcagtcagttgaactcgctcg	7	12	11	11	3	3	1	2	1	1	0	6	1	3	1	1	2	1	3	1	2	2	2			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chrX:8553409T>C	ENST00000262648.3	-	6	904	c.755A>G	c.(754-756)gAc>gGc	p.D252G		NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	252	Fibronectin type-III 1.				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						GGGTCTTATGTCAGTCAGTTG	0.498													38	7					0	0	1	0	0	C	8553409	T	C	8553409	3	2	204	1	0	0	0	0	1	0	0	0	8018	1667	58	3	1323	3	KAL1	23	8553409	Missense_Mutation	SNP	T	TCGA-HC-A4ZV-01A-11D-A26M-08		8553409	146717151	132	9658											
BCORL1	63035	broad.mit.edu	37	chrX	129146576	129146576	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gagcacctctttctgatgagGagtcaacgacaggcgactgc	10	8	12	11	2	3	2	1	2	2	0	3	6	3	3	1	2	3	1	1	2	1	1			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chrX:129146576G>C	ENST00000540052.1	+	2	153	c.109G>C	c.(109-111)Gag>Cag	p.E37Q	BCORL1_ENST00000488135.1_3'UTR|BCORL1_ENST00000303743.5_Missense_Mutation_p.E37Q|BCORL1_ENST00000359304.2_Missense_Mutation_p.E37Q|BCORL1_ENST00000218147.7_Missense_Mutation_p.E37Q	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	37					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TTCTGATGAGGAGTCAACGAC	0.517													28	23					0	0	1	0	0	C	129146576	G	C	129146576	3	2	204	1	0	0	0	0	1	0	0	0	1385	1175	41	4	115	4	BCORL1	23	129146576	Missense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	120593167	129146576	26123984	133	9659											
BCORL1	63035	broad.mit.edu	37	chrX	129147472	129147472	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttgttccagtccaagttGccacttcggttccagctcct	5	13	9	14	1	0	0	0	0	0	0	5	0	4	0	5	2	2	5	5	2	1	5			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chrX:129147472G>C	ENST00000540052.1	+	3	768	c.724G>C	c.(724-726)Gcc>Ccc	p.A242P	BCORL1_ENST00000303743.5_Missense_Mutation_p.A242P|BCORL1_ENST00000359304.2_Missense_Mutation_p.A242P|BCORL1_ENST00000218147.7_Missense_Mutation_p.A242P	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	242	Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						AGTCCAAGTTGCCACTTCGGT	0.632													52	42					0	0	1	0	0	C	129147472	G	C	129147472	3	2	204	1	0	0	0	0	1	0	0	0	1385	1319	46	4	734	4	BCORL1	23	129147472	Missense_Mutation	SNP	G	TCGA-HC-A4ZV-01A-11D-A26M-08	896	129147472	26123088	134	9660											
SAGE1	55511	broad.mit.edu	37	chrX	134990668	134990668	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcaccatgtccatgaagcaAggatggaaaatggccaacga	16	6	10	9	1	1	1	1	1	0	0	2	4	2	3	3	3	2	1	3	3	5	0			TCGA-HC-A4ZV-01A-11D-A26M-08	TCGA-HC-A4ZV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10b99436-73aa-47f1-b44c-d6f893e133dc	1ed46a80-9603-434b-a495-3b5698dd9be9	g.chrX:134990668A>C	ENST00000535938.1	+	12	1500	c.1333A>C	c.(1333-1335)Agg>Cgg	p.R445R	SAGE1_ENST00000370709.3_Silent_p.R445R|SAGE1_ENST00000324447.3_Silent_p.R445R|SAGE1_ENST00000537770.1_Intron	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	445										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					CCATGAAGCAAGGATGGAAAA	0.423													32	19					0	0	1	0	0	C	134990668	A	C	134990668	2	2	204	1	0	0	0	0	0	0	0	1	13861	63	3	5		5	SAGE1	23	134990668	Silent	SNP	A	TCGA-HC-A4ZV-01A-11D-A26M-08	5843196	134990668	20279892	135	9661											
AKR7A2	8574	broad.mit.edu	37	chr1	19632608	19632608	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcagggccttctccaccaaCgcaatggcctcgaagtggtg	8	8	12	13	2	1	0	0	0	1	0	3	1	1	0	4	3	2	2	4	3	3	1			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr1:19632608C>T	ENST00000235835.3	-	6	843	c.822G>A	c.(820-822)gcG>gcA	p.A274A		NM_003689.3	NP_003680.2	O43488	ARK72_HUMAN	aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase)	274					carbohydrate metabolic process|cellular aldehyde metabolic process	Golgi apparatus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCCACCAACGCAATGGCCT	0.617													9	105					0	0	1	0	0	T	19632608	C	T	19632608	2	4	205	1	0	0	0	0	0	0	0	1	472	523	19	1		1	AKR7A2	1	19632608	Silent	SNP	C	TCGA-HC-A631-01A-11D-A29Q-08		19632608	229618013	1	9662											
GALE	2582	broad.mit.edu	37	chr1	24124221	24124221	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggtcccggatcatttcctcGatgaagaacttggacttgcc	9	11	10	11	2	1	2	1	1	0	1	4	5	3	4	3	3	2	0	3	3	2	3			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr1:24124221G>A	ENST00000374497.3	-	6	583	c.492C>T	c.(490-492)atC>atT	p.I164I		NM_000403.3|NM_001008216.1|NM_001127621.1	NP_000394.2|NP_001008217.1|NP_001121093.1	Q14376	GALE_HUMAN	UDP-galactose-4-epimerase	164					galactose catabolic process	cytosol	coenzyme binding|protein homodimerization activity|UDP-glucose 4-epimerase activity			endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		TCATTTCCTCGATGAAGAACT	0.612													4	73					0	0	1	0	0	A	24124221	G	A	24124221	2	1	205	1	0	0	0	0	0	0	0	1	6242	1048	37	1		1	GALE	1	24124221	Silent	SNP	G	TCGA-HC-A631-01A-11D-A29Q-08	4491613	24124221	225126400	2	9663											
PTCH2	8643	broad.mit.edu	37	chr1	45295299	45295299	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taccgacctgcacaaagcgcCgctgccaggcttgtagcact	9	7	10	15	3	0	0	0	0	0	0	0	1	0	0	4	1	5	5	4	1	3	3			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr1:45295299C>T	ENST00000447098.2	-	8	1081	c.1070G>A	c.(1069-1071)cGg>cAg	p.R357Q	PTCH2_ENST00000372192.3_Missense_Mutation_p.R357Q	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	357					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CACAAAGCGCCGCTGCCAGGC	0.617									Basal Cell Nevus syndrome				13	155					0	0	1	0	0	T	45295299	C	T	45295299	3	4	205	1	0	0	0	0	1	0	0	0	12780	652	23	1	2621	1	PTCH2	1	45295299	Missense_Mutation	SNP	C	TCGA-HC-A631-01A-11D-A29Q-08	21171078	45295299	203955322	3	9664											
LRRIQ3	127255	broad.mit.edu	37	chr1	74575077	74575077	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taataaactaattatacttaCatgtttccaatatgcaagct	16	15	3	7	0	0	0	0	0	0	0	1	0	1	0	1	0	5	3	1	0	10	8			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr1:74575077C>A	ENST00000354431.4	-	5	1059		c.e5+1		LRRIQ3_ENST00000395089.1_Splice_Site|LRRIQ3_ENST00000370909.2_Splice_Site|LRRIQ3_ENST00000468759.1_Splice_Site	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3											NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						ATTATACTTACATGTTTCCAA	0.269													4	6					0.00024832	0.000255961	1	1	0	A	74575077	C	A	74575077	5	1	205	1	0	0	0	0	0	0	1	0	9075	492	17	4	1022	4	LRRIQ3	1	74575077	Splice_Site	SNP	C	TCGA-HC-A631-01A-11D-A29Q-08	29279778	74575077	174675544	4	9665											
PTGS2	5743	broad.mit.edu	37	chr1	186647446	186647446	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcacaggaggaagggctctaGtataataggagaggttagag	14	7	16	4	0	1	2	0	0	1	2	1	5	1	4	0	5	0	4	0	5	6	5			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr1:186647446G>A	ENST00000367468.5	-	4	540	c.404C>T	c.(403-405)aCt>aTt	p.T135I	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	135					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	AAGGGCTCTAGTATAATAGGA	0.438													8	46					0	0	1	0	0	A	186647446	G	A	186647446	3	1	205	1	0	0	0	0	1	0	0	0	12806	1029	36	2	1438	2	PTGS2	1	186647446	Missense_Mutation	SNP	G	TCGA-HC-A631-01A-11D-A29Q-08	112072369	186647446	62603175	5	9666											
HHAT	55733	broad.mit.edu	37	chr1	210522367	210522367	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctacttgcctcactaggCttccacttctattccttcta	7	16	3	15	0	3	0	1	0	2	0	5	0	5	0	4	1	3	1	4	1	5	10			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr1:210522367C>T	ENST00000367010.1	+	2	275	c.48C>T	c.(46-48)ggC>ggT	p.G16G	HHAT_ENST00000391905.3_Silent_p.G16G|HHAT_ENST00000261458.3_Silent_p.G16G|HHAT_ENST00000545154.1_Intron|HHAT_ENST00000545781.1_Intron|HHAT_ENST00000541565.1_Silent_p.G16G|HHAT_ENST00000537898.1_Silent_p.G16G|HHAT_ENST00000413764.2_Silent_p.G16G|HHAT_ENST00000308852.6_5'UTR	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	16					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		CCTCACTAGGCTTCCACTTCT	0.478													18	30					0	0	1	0	0	T	210522367	C	T	210522367	2	4	205	1	0	0	0	0	0	0	0	1	7130	784	28	2		2	HHAT	1	210522367	Silent	SNP	C	TCGA-HC-A631-01A-11D-A29Q-08	23874921	210522367	38728254	6	9667											
PPM1G	5496	broad.mit.edu	37	chr2	27604624	27604624	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgcaggtcatgttgtcacAccctgtaccatccccagaag	10	9	9	13	0	2	1	2	0	0	1	3	2	3	1	4	1	2	3	4	1	2	2			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr2:27604624A>G	ENST00000344034.4	-	10	1747	c.1483T>C	c.(1483-1485)Tgt>Cgt	p.C495R	PPM1G_ENST00000350803.4_Missense_Mutation_p.C495R	NM_177983.2	NP_817092.1	O15355	PPM1G_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1G	495					cell cycle arrest|protein dephosphorylation	cytoplasm|nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					ATGTTGTCACACCCTGTACCA	0.547													4	89					0	0	1	0	0	G	27604624	A	G	27604624	3	3	205	1	0	0	0	0	1	0	0	0	12389	159	6	3	161	3	PPM1G	2	27604624	Missense_Mutation	SNP	A	TCGA-HC-A631-01A-11D-A29Q-08		27604624	215594749	7	9668											
SMEK2	57223	broad.mit.edu	37	chr2	55844316	55844316	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccagcagcgacatcccctTgagctcctccacgtaagtgg	10	7	9	15	2	0	1	0	1	0	0	3	2	3	1	5	1	4	3	5	1	2	2			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr2:55844316T>C	ENST00000272313.5	-	1	433	c.106A>G	c.(106-108)Aag>Gag	p.K36E	SMEK2_ENST00000345102.5_Missense_Mutation_p.K36E|SMEK2_ENST00000477749.1_5'UTR|SMEK2_ENST00000407823.3_Missense_Mutation_p.K36E	NM_020463.2	NP_065196.1	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	36	WH1.					microtubule organizing center|nucleus	protein binding			kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GACATCCCCTTGAGCTCCTCC	0.592													38	52					0	0	1	0	0	C	55844316	T	C	55844316	3	2	205	1	0	0	0	0	1	0	0	0	14848	1821	63	3	2511	3	SMEK2	2	55844316	Missense_Mutation	SNP	T	TCGA-HC-A631-01A-11D-A29Q-08	28239692	55844316	187355057	8	9669											
SCN1A	6323	broad.mit.edu	37	chr2	166908358	166908358	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcattggtgggaggccattGtatacatttattcctcaggt	9	14	11	7	0	1	0	1	0	0	0	2	1	2	1	2	4	2	2	2	4	3	7			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr2:166908358G>A	ENST00000423058.2	-	6	852	c.835C>T	c.(835-837)Caa>Taa	p.Q279*	SCN1A_ENST00000375405.3_Nonsense_Mutation_p.Q279*|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000303395.4_Nonsense_Mutation_p.Q279*|SCN1A_ENST00000409050.1_Nonsense_Mutation_p.Q279*|AC010127.3_ENST00000595268.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	279						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GGAGGCCATTGTATACATTTA	0.393													32	27					0	0	1	0	0	A	166908358	G	A	166908358	4	1	205	1	0	0	0	0	0	1	0	0	13968	1386	48	2	5278	2	SCN1A	2	166908358	Nonsense_Mutation	SNP	G	TCGA-HC-A631-01A-11D-A29Q-08	111064042	166908358	76291015	9	9670											
SP3	6670	broad.mit.edu	37	chr2	174777796	174777796	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttaaaagtaagtattagtaAcctgtatgtgttcttctgtg	11	17	9	4	0	2	0	0	0	2	0	2	0	2	0	1	0	1	6	1	0	7	8			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr2:174777796A>G	ENST00000310015.6	-	6	2560		c.e6+1		SP3_ENST00000418194.2_Splice_Site|SP3_ENST00000455789.2_Splice_Site	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor						negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			AGTATTAGTAACCTGTATGTG	0.353													13	26					0	0	1	0	0	G	174777796	A	G	174777796	5	3	205	1	0	0	0	0	0	0	1	0	15019	57	2	3	322	3	SP3	2	174777796	Splice_Site	SNP	A	TCGA-HC-A631-01A-11D-A29Q-08	7869438	174777796	68421577	10	9671											
USP19	10869	broad.mit.edu	37	chr3	49154755	49154755	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcccattctcctggcaccGcagccccggcaccagctcct	5	7	8	21	2	1	0	0	0	1	0	3	0	2	0	7	2	3	4	7	2	0	1	rs145545570	by1000genomes	TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr3:49154755G>A	ENST00000453664.1	-	6	934	c.616C>T	c.(616-618)Cgg>Tgg	p.R206W	USP19_ENST00000434032.2_Missense_Mutation_p.R216W|USP19_ENST00000417901.1_Missense_Mutation_p.R216W|USP19_ENST00000488993.1_5'UTR|USP19_ENST00000398888.2_Intron|USP19_ENST00000398892.3_Missense_Mutation_p.R153W|USP19_ENST00000398896.1_Intron|USP19_ENST00000398898.2_Missense_Mutation_p.R153W	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	215					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCCTGGCACCGCAGCCCCGGC	0.632													12	20					0	0	1	0	0	A	49154755	G	A	49154755	3	1	205	1	0	0	0	0	1	0	0	0	17110	1102	38	1		1	USP19	3	49154755	Missense_Mutation	SNP	G	TCGA-HC-A631-01A-11D-A29Q-08		49154755	148867675	11	9672											
IQCF3	401067	broad.mit.edu	37	chr3	51864449	51864449	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacaactgcatcacagaaaaAgggtgaaggcagctgggcag	15	4	13	9	0	1	2	1	1	0	1	1	2	1	2	0	3	3	4	0	3	4	0			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr3:51864449A>G	ENST00000456080.1	+	8	1262	c.97A>G	c.(97-99)Agg>Ggg	p.R33G	IQCF3_ENST00000462079.1_3'UTR|IQCF3_ENST00000446775.1_Missense_Mutation_p.R33G|IQCF3_ENST00000444293.1_Intron|IQCF3_ENST00000440739.2_Missense_Mutation_p.R33G|IQCF3_ENST00000437810.2_Missense_Mutation_p.R33G			P0C7M6	IQCF3_HUMAN	IQ motif containing F3	33										endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TCACAGAAAAAGGGTGAAGGC	0.557													4	98					0	0	1	0	0	G	51864449	A	G	51864449	3	3	205	1	0	0	0	0	1	0	0	0	7853	63	3	3	107	3	IQCF3	3	51864449	Missense_Mutation	SNP	A	TCGA-HC-A631-01A-11D-A29Q-08	2709694	51864449	146157981	12	9673											
RHO	6010	broad.mit.edu	37	chr3	129251241	129251241	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttttctgctatgggcagctCgtcttcaccgtcaaggaggt	6	14	11	10	2	4	0	2	0	2	0	5	1	4	1	1	3	2	3	1	3	2	4			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr3:129251241C>T	ENST00000296271.3	+	3	772	c.678C>T	c.(676-678)ctC>ctT	p.L226L		NM_000539.3	NP_000530.1	P08100	OPSD_HUMAN	rhodopsin	226					protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding			breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	ATGGGCAGCTCGTCTTCACCG	0.592													59	50					0	0	1	0	0	T	129251241	C	T	129251241	2	4	205	1	0	0	0	0	0	0	0	1	13380	871	31	1		1	RHO	3	129251241	Silent	SNP	C	TCGA-HC-A631-01A-11D-A29Q-08	77386792	129251241	68771189	13	9674											
ZIC1	7545	broad.mit.edu	37	chr3	147128793	147128793	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatccgcgtgcacacgggCgagaagccctttccctgccc	7	6	10	18	4	0	1	0	0	0	1	2	2	2	1	4	1	3	1	4	1	1	1			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr3:147128793C>T	ENST00000282928.4	+	1	1623	c.894C>T	c.(892-894)ggC>ggT	p.G298G		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	298					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						TGCACACGGGCGAGAAGCCCT	0.557													11	160					0	0	1	0	0	T	147128793	C	T	147128793	2	4	205	1	0	0	0	0	0	0	0	1	17736	755	27	1		1	ZIC1	3	147128793	Silent	SNP	C	TCGA-HC-A631-01A-11D-A29Q-08	17877552	147128793	50893637	14	9675											
MECOM	2122	broad.mit.edu	37	chr3	168819875	168819875	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatagcgctcctttcccttcCgcagaaggttctctggcagg	6	12	10	13	2	1	1	0	0	1	1	5	1	4	1	3	3	1	4	3	3	3	5			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr3:168819875C>T	ENST00000464456.1	-	9	3353	c.2153G>A	c.(2152-2154)cGg>cAg	p.R718Q	MECOM_ENST00000494292.1_Missense_Mutation_p.R906Q|MECOM_ENST00000472280.1_Missense_Mutation_p.R728Q|MECOM_ENST00000392736.3_Missense_Mutation_p.R727Q|MECOM_ENST00000468789.1_Missense_Mutation_p.R727Q|MECOM_ENST00000264674.3_Missense_Mutation_p.R792Q|MECOM_ENST00000460814.1_Missense_Mutation_p.R718Q|MECOM_ENST00000433243.2_Missense_Mutation_p.R728Q	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CTTTCCCTTCCGCAGAAGGTT	0.502													27	49					0	0	1	0	0	T	168819875	C	T	168819875	3	4	205	1	0	0	0	0	1	0	0	0	9472	652	23	1	1003	1	MECOM	3	168819875	Missense_Mutation	SNP	C	TCGA-HC-A631-01A-11D-A29Q-08	21691082	168819875	29202555	15	9676											
ECE2	9718	broad.mit.edu	37	chr3	183994314	183994314	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcgggatgaagacgcacccGagacccccgtagagggcggg	9	4	16	12	5	0	4	0	1	0	3	1	6	0	5	3	3	0	2	3	3	2	2			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr3:183994314G>A	ENST00000404464.3	+	2	223	c.85G>A	c.(85-87)Gag>Aag	p.E29K	ECE2_ENST00000359140.4_Intron|ECE2_ENST00000357474.5_Missense_Mutation_p.E29K|ECE2_ENST00000402825.3_Intron|EIF2B5_ENST00000444495.1_Intron	NM_001100120.1|NM_001100121.1	NP_001093590.1|NP_001093591.1	O60344	ECE2_HUMAN	endothelin converting enzyme 2	0	Methyltransferase-like region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGACGCACCCGAGACCCCCGT	0.667													16	33					0	0	1	0	0	A	183994314	G	A	183994314	3	1	205	1	0	0	0	0	1	0	0	0	4916	1059	37	1	871	1	ECE2	3	183994314	Missense_Mutation	SNP	G	TCGA-HC-A631-01A-11D-A29Q-08	15174439	183994314	14028116	16	9677											
ECE2	9718	broad.mit.edu	37	chr3	183995186	183995186	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaggaaccccctgcccgatgGgcgttctcgctggaacacct	7	7	12	15	3	1	0	0	0	1	0	2	4	1	2	4	3	3	2	4	3	2	1			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr3:183995186G>A	ENST00000402825.3	+	4	764	c.764G>A	c.(763-765)gGg>gAg	p.G255E	ECE2_ENST00000359140.4_Missense_Mutation_p.G108E|ECE2_ENST00000357474.5_Missense_Mutation_p.G183E|ECE2_ENST00000404464.3_Missense_Mutation_p.G137E|EIF2B5_ENST00000444495.1_Intron	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	255	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CTGCCCGATGGGCGTTCTCGC	0.602													27	54					0	0	1	0	0	A	183995186	G	A	183995186	3	1	205	1	0	0	0	0	1	0	0	0	4916	1232	43	2	1342	2	ECE2	3	183995186	Missense_Mutation	SNP	G	TCGA-HC-A631-01A-11D-A29Q-08	872	183995186	14027244	17	9678											
PITX2	5308	broad.mit.edu	37	chr4	111539631	111539631	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgatgacagggggttgaCgttcatagagttgaagaagg	11	10	16	4	1	1	6	1	4	0	2	1	6	1	6	0	3	0	3	0	3	3	4			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr4:111539631C>T	ENST00000354925.2	-	7	2309	c.604G>A	c.(604-606)Gtc>Atc	p.V202I	PITX2_ENST00000394595.3_Missense_Mutation_p.R133H|PITX2_ENST00000306732.3_Missense_Mutation_p.V209I|PITX2_ENST00000556049.1_5'UTR|PITX2_ENST00000394598.2_Missense_Mutation_p.V202I|PITX2_ENST00000355080.5_Missense_Mutation_p.V156I	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	202					determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		AGGGGGTTGACGTTCATAGAG	0.557													5	55					0	0	1	0	0	T	111539631	C	T	111539631	3	4	205	1	0	0	0	0	1	0	0	0	12003	536	19	1	353	1	PITX2	4	111539631	Missense_Mutation	SNP	C	TCGA-HC-A631-01A-11D-A29Q-08		111539631	79614645	18	9679											
PCDH18	54510	broad.mit.edu	37	chr4	138452262	138452262	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attgaatttggacccaaatcTtgagcctgaacatcaatctc	13	12	6	10	0	3	3	1	3	2	0	4	4	3	4	2	1	2	0	2	1	4	3			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr4:138452262T>C	ENST00000344876.4	-	1	1367	c.981A>G	c.(979-981)caA>caG	p.Q327Q	PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000412923.2_Silent_p.Q327Q|PCDH18_ENST00000507846.1_Silent_p.Q107Q	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	327	Cadherin 3.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GACCCAAATCTTGAGCCTGAA	0.353													14	21					0	0	1	0	0	C	138452262	T	C	138452262	2	2	205	1	0	0	0	0	0	0	0	1	11560	1606	56	3		3	PCDH18	4	138452262	Silent	SNP	T	TCGA-HC-A631-01A-11D-A29Q-08	26912631	138452262	52702014	19	9680											
CDH9	1007	broad.mit.edu	37	chr5	26885932	26885932	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtaggtgctcattttgttgCgactgtagccatctttccga	7	15	10	9	2	2	0	1	0	1	0	3	2	3	0	2	1	3	4	2	1	2	6			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr5:26885932C>T	ENST00000231021.4	-	11	1845	c.1673G>A	c.(1672-1674)cGc>cAc	p.R558H		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	558	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CATTTTGTTGCGACTGTAGCC	0.383													22	31					0	0	1	0	0	T	26885932	C	T	26885932	3	4	205	1	0	0	0	0	1	0	0	0	3139	768	27	1	704	1	CDH9	5	26885932	Missense_Mutation	SNP	C	TCGA-HC-A631-01A-11D-A29Q-08		26885932	154029328	20	9681											
VCAN	1462	broad.mit.edu	37	chr5	82815919	82815919	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcatttagaagacttggaGtcagtctcagcatccacaac	13	10	7	11	0	3	2	3	0	1	2	5	3	4	3	1	1	2	1	1	1	3	3			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr5:82815919G>A	ENST00000265077.3	+	7	2359	c.1794G>A	c.(1792-1794)gaG>gaA	p.E598E	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000342785.4_Silent_p.E598E|VCAN_ENST00000512590.2_Silent_p.E550E	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	598	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AAGACTTGGAGTCAGTCTCAG	0.418													62	62					0	0	1	0	0	A	82815919	G	A	82815919	2	1	205	1	0	0	0	0	0	0	0	1	17198	1020	36	2		2	VCAN	5	82815919	Silent	SNP	G	TCGA-HC-A631-01A-11D-A29Q-08	55929987	82815919	98099341	21	9682											
SLCO6A1	133482	broad.mit.edu	37	chr5	101709139	101709139	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtgttctcatttagacgacGtttgtatatgaaaaatgcaa	14	14	8	5	2	1	2	1	1	1	1	2	3	1	2	0	0	1	4	0	0	6	6			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr5:101709139G>A	ENST00000506729.1	-	13	2248	c.2077C>T	c.(2077-2079)Cgt>Tgt	p.R693C	SLCO6A1_ENST00000379810.1_Missense_Mutation_p.R440C|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.R631C|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.R440C|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.R693C			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	693						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TTTAGACGACGTTTGTATATG	0.318													7	35					0	0	1	0	0	A	101709139	G	A	101709139	3	1	205	1	0	0	0	0	1	0	0	0	14787	1145	40	1	86	1	SLCO6A1	5	101709139	Missense_Mutation	SNP	G	TCGA-HC-A631-01A-11D-A29Q-08	18893220	101709139	79206121	22	9683											
CCNJL	79616	broad.mit.edu	37	chr5	159680553	159680553	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggctgcagcggttggtacggGgtgtggagggatgagcctgt	5	9	21	6	2	0	1	0	1	0	0	0	3	0	3	1	7	4	4	1	7	1	2			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr5:159680553G>A	ENST00000393977.3	-	7	1425	c.1140C>T	c.(1138-1140)acC>acT	p.T380T	CCNJL_ENST00000257536.7_Silent_p.T332T|CCNJL_ENST00000377503.2_5'UTR	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	cyclin J-like	380						nucleus				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTTGGTACGGGGTGTGGAGGG	0.632													33	54					0	0	1	0	0	A	159680553	G	A	159680553	2	1	205	1	0	0	0	0	0	0	0	1	2951	1219	43	2		2	CCNJL	5	159680553	Silent	SNP	G	TCGA-HC-A631-01A-11D-A29Q-08	57971414	159680553	21234707	23	9684											
TFAP2B	7021	broad.mit.edu	37	chr6	50810837	50810837	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaatttacggatctactggCgcaggaccggacaccgatag	12	7	12	10	4	1	1	0	0	1	1	1	5	1	4	2	4	2	1	2	4	4	4			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr6:50810837C>T	ENST00000263046.4	+	8	1308	c.1142C>T	c.(1141-1143)gCg>gTg	p.A381V	TFAP2B_ENST00000393655.3_Missense_Mutation_p.A372V			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	372				QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047).	nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					GATCTACTGGCGCAGGACCGG	0.567													7	235					0	0	1	0	0	T	50810837	C	T	50810837	3	4	205	1	0	0	0	0	1	0	0	0	15848	768	27	1	1141	1	TFAP2B	6	50810837	Missense_Mutation	SNP	C	TCGA-HC-A631-01A-11D-A29Q-08		50810837	120304230	24	9685											
PKHD1	5314	broad.mit.edu	37	chr6	51484229	51484229	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctcttcctctcggacaaTgtggcggctaactttccttc	6	13	8	14	2	2	0	0	0	2	0	6	1	4	1	3	3	2	1	3	3	2	4			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr6:51484229T>C	ENST00000371117.3	-	67	12150	c.11875A>G	c.(11875-11877)Att>Gtt	p.I3959V	RP3-335N17.2_ENST00000589278.1_RNA|RP3-335N17.2_ENST00000454361.1_RNA	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3959					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TCTCGGACAATGTGGCGGCTA	0.552													77	71					0	0	1	0	0	C	51484229	T	C	51484229	3	2	205	1	0	0	0	0	1	0	0	0	12019	1464	51	3	353	3	PKHD1	6	51484229	Missense_Mutation	SNP	T	TCGA-HC-A631-01A-11D-A29Q-08	673392	51484229	119630838	25	9686											
TRDN	10345	broad.mit.edu	37	chr6	123600201	123600201	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcatgcatataacatacGtggaggtttaggcttgactt	11	13	11	6	1	0	2	0	2	0	0	0	3	0	3	0	3	4	4	0	3	4	7			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr6:123600201G>A	ENST00000334268.4	-	25	1854	c.1537_splice	c.e25+1	p.Q513_splice	TRDN_ENST00000398178.3_Splice_Site_p.Q513_splice			Q13061	TRDN_HUMAN	triadin	513					muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		TATAACATACGTGGAGGTTTA	0.269													9	20					0	0	1	0	0	A	123600201	G	A	123600201	5	1	205	1	0	0	0	0	0	0	1	0	16529	1159	40	1	720	1	TRDN	6	123600201	Splice_Site	SNP	G	TCGA-HC-A631-01A-11D-A29Q-08	72115972	123600201	47514866	26	9687											
ZAN	7455	broad.mit.edu	37	chr7	100384030	100384033	+	RNA	DEL	TTGT	TTGT	-																															cctccaaagtttttcttttcTtgtttgtttgttttttgaga																								rs71973809		TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr7:100384030_100384033delTTGT	ENST00000542585.1	+	0	7124				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ttttcttttcttgtttgtttgttt	0.505													4	7	---	---	---	---						-	100384033	TTGT	-	100384030	6	5	205	0	1	1	0	1	0	0	0	0	17573	1624	56	0		0	ZAN	7	100384030	RNA	DEL	TTGT	TCGA-HC-A631-01A-11D-A29Q-08		100384030	58754633	27	9688											
TAS2R4	50832	broad.mit.edu	37	chr7	141478836	141478836	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttagtggtttctttggtctTgagctcatctctccagttca	5	19	8	9	0	5	1	2	1	3	0	7	1	6	1	1	2	1	3	1	2	1	6			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr7:141478836T>G	ENST00000247881.2	+	1	595	c.548T>G	c.(547-549)tTg>tGg	p.L183W	SSBP1_ENST00000465582.1_Intron	NM_016944.1	NP_058640.1	Q9NYW5	TA2R4_HUMAN	taste receptor, type 2, member 4	183					sensory perception of taste	cilium membrane	taste receptor activity			endometrium(1)|large_intestine(4)|lung(2)	7	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		TCTTTGGTCTTGAGCTCATCT	0.408													86	137					0	0	1	0	0	G	141478836	T	G	141478836	3	3	205	1	0	0	0	0	1	0	0	0	15634	1821	63	5	550	5	TAS2R4	7	141478836	Missense_Mutation	SNP	T	TCGA-HC-A631-01A-11D-A29Q-08	41094806	141478836	17659827	28	9689											
TACC1	6867	broad.mit.edu	37	chr8	38699927	38699927	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttctgatctcttcaggagaTatgagaacctgaaaggtgtt	11	14	10	6	0	3	4	1	3	2	2	4	6	3	4	1	2	1	1	1	2	3	4			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr8:38699927T>G	ENST00000379931.3	+	11	2498	c.2119T>G	c.(2119-2121)Tat>Gat	p.Y707D	TACC1_ENST00000520611.1_Missense_Mutation_p.Y132D|TACC1_ENST00000518415.1_Missense_Mutation_p.Y621D|TACC1_ENST00000520973.1_Missense_Mutation_p.Y471D|TACC1_ENST00000520615.1_Missense_Mutation_p.Y500D|TACC1_ENST00000276520.8_Missense_Mutation_p.Y285D|TACC1_ENST00000519416.1_Missense_Mutation_p.Y499D|TACC1_ENST00000348567.4_Missense_Mutation_p.Y257D|TACC1_ENST00000317827.4_Missense_Mutation_p.Y695D|TACC1_ENST00000443286.2_Missense_Mutation_p.Y682D|TACC1_ENST00000330691.6_Missense_Mutation_p.Y269D			O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	695	Interaction with CH-TOG.				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			CTTCAGGAGATATGAGAACCT	0.473													37	50					0	0	1	0	0	G	38699927	T	G	38699927	3	3	205	1	0	0	0	0	1	0	0	0	15558	1406	49	5	2121	5	TACC1	8	38699927	Missense_Mutation	SNP	T	TCGA-HC-A631-01A-11D-A29Q-08		38699927	107664095	29	9690											
PTPRD	5789	broad.mit.edu	37	chr9	8484295	8484295	+	Frame_Shift_Del	DEL	T	T	-																															gtcagcacaaatgaatatgaTttctcaggcttcaggttgac																										TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr9:8484295delT	ENST00000381196.4	-	27	3780	c.3237delA	c.(3235-3237)aafs	p.K1079fs	PTPRD_ENST00000397611.3_Frame_Shift_Del_p.K665fs|PTPRD_ENST00000360074.4_Frame_Shift_Del_p.K1066fs|PTPRD_ENST00000540109.1_Frame_Shift_Del_p.K1079fs|PTPRD_ENST00000537002.1_Frame_Shift_Del_p.K665fs|PTPRD_ENST00000358503.5_Frame_Shift_Del_p.K1057fs|PTPRD_ENST00000486161.1_Frame_Shift_Del_p.K668fs|PTPRD_ENST00000356435.5_Frame_Shift_Del_p.K1079fs|PTPRD_ENST00000397617.3_Frame_Shift_Del_p.K658fs|PTPRD_ENST00000355233.5_Frame_Shift_Del_p.K668fs|PTPRD_ENST00000397606.3_Frame_Shift_Del_p.K658fs	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1079	Fibronectin type-III 8.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ATGAATATGATTTCTCAGGCT	0.448										TSP Lung(15;0.13)			2	4	---	---	---	---						-	8484295	T	-	8484295	7	5	205	1	0	1	0	1	0	0	0	0	12851	1490	52	0	2634	0	PTPRD	9	8484295	Frame_Shift_Del	DEL	T	TCGA-HC-A631-01A-11D-A29Q-08		8484295	132729136	30	9691											
SH3GL2	6456	broad.mit.edu	37	chr9	17791307	17791307	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcagtccagatcctgcagCaagtcacggtcagactggaa	12	6	12	11	1	2	2	2	0	0	2	4	3	4	3	2	3	2	3	2	3	2	0			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr9:17791307C>T	ENST00000380607.4	+	7	823	c.703C>T	c.(703-705)Caa>Taa	p.Q235*	SH3GL2_ENST00000537391.1_Nonsense_Mutation_p.Q188*	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	235	BAR.				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	cytosol|Golgi membrane|plasma membrane	identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		GATCCTGCAGCAAGTCACGGT	0.423													36	6					0	0	1	0	0	T	17791307	C	T	17791307	4	4	205	1	0	0	0	0	0	1	0	0	14306	711	25	2	729	2	SH3GL2	9	17791307	Nonsense_Mutation	SNP	C	TCGA-HC-A631-01A-11D-A29Q-08	9307012	17791307	123422124	31	9692											
ALDH1A1	216	broad.mit.edu	37	chr9	75526938	75526938	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgtgggctggacaaagtagCctttattcccccacgggcct	7	10	11	13	1	0	0	0	0	0	0	1	1	1	1	4	3	1	2	4	3	3	4	rs142280224		TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr9:75526938C>A	ENST00000297785.3	-	10	1190	c.1136G>T	c.(1135-1137)gGc>gTc	p.G379V		NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	379					cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	GACAAAGTAGCCTTTATTCCC	0.443													45	78					4.64027e-19	4.93489e-19	1	1	0	A	75526938	C	A	75526938	3	1	205	1	0	0	0	0	1	0	0	0	487	739	26	4	385	4	ALDH1A1	9	75526938	Missense_Mutation	SNP	C	TCGA-HC-A631-01A-11D-A29Q-08	57735631	75526938	65686493	32	9693											
PAPPA	5069	broad.mit.edu	37	chr9	118950481	118950481	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actcagacttgctttgacccCgactctccacacaggtaaga	11	9	7	14	1	2	3	1	1	1	2	3	4	2	3	3	1	1	2	3	1	1	3			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr9:118950481C>T	ENST00000328252.3	+	2	1833	c.1464C>T	c.(1462-1464)ccC>ccT	p.P488P	PAPPA_ENST00000534838.1_5'UTR	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	488	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GCTTTGACCCCGACTCTCCAC	0.483													14	19					0	0	1	0	0	T	118950481	C	T	118950481	2	4	205	1	0	0	0	0	0	0	0	1	11479	639	23	1		1	PAPPA	9	118950481	Silent	SNP	C	TCGA-HC-A631-01A-11D-A29Q-08	43423543	118950481	22262950	33	9694											
RABEPK	10244	broad.mit.edu	37	chr9	127975736	127975736	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccctcctgcacacctgaccGtatctgggtatttggaggtg	6	12	11	12	1	1	1	0	1	1	0	3	2	3	2	4	3	1	3	4	3	2	3	rs147509125		TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr9:127975736G>A	ENST00000373544.1	+	5	465	c.299G>A	c.(298-300)cGt>cAt	p.R100H	RABEPK_ENST00000394125.4_Missense_Mutation_p.R100H|RABEPK_ENST00000259460.8_Intron|RABEPK_ENST00000373538.3_Missense_Mutation_p.R100H|RABEPK_ENST00000394124.4_Missense_Mutation_p.R100H			Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	100					receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						ACACCTGACCGTATCTGGGTA	0.448													4	104					0	0	1	0	0	A	127975736	G	A	127975736	3	1	205	1	0	0	0	0	1	0	0	0	13015	1145	40	1	309	1	RABEPK	9	127975736	Missense_Mutation	SNP	G	TCGA-HC-A631-01A-11D-A29Q-08	9025255	127975736	13237695	34	9695											
CDH23	64072	broad.mit.edu	37	chr10	73468898	73468898	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgtgggttaccgcgatgcCgttgtgagaaccgtggtggg	6	9	18	8	5	0	1	0	1	0	1	0	3	0	1	3	3	4	2	3	3	2	2			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr10:73468898C>T	ENST00000224721.6	+	26	3170	c.3165C>T	c.(3163-3165)gcC>gcT	p.A1055A		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1050	Cadherin 10.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						ACCGCGATGCCGTTGTGAGAA	0.627													6	60					0	0	1	0	0	T	73468898	C	T	73468898	2	4	205	1	0	0	0	0	0	0	0	1	3130	639	23	1		1	CDH23	10	73468898	Silent	SNP	C	TCGA-HC-A631-01A-11D-A29Q-08		73468898	62065849	35	9696											
CTSD	1509	broad.mit.edu	37	chr11	1776173	1776173	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtaggccttgcgggtgaCattcaggtaggacagagaac	11	7	14	9	1	1	2	1	1	0	1	1	4	1	3	2	4	2	2	2	4	3	4			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr11:1776173C>T	ENST00000236671.2	-	6	922	c.790G>A	c.(790-792)Gtc>Atc	p.V264I	RP11-295K3.1_ENST00000427721.1_Missense_Mutation_p.M134I	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	264					cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity			endometrium(1)|large_intestine(4)|lung(8)	13		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTGCGGGTGACATTCAGGTAG	0.622													36	51					0	0	1	0	0	T	1776173	C	T	1776173	3	4	205	1	0	0	0	0	1	0	0	0	4056	478	17	2	464	2	CTSD	11	1776173	Missense_Mutation	SNP	C	TCGA-HC-A631-01A-11D-A29Q-08		1776173	133230343	36	9697											
SLC6A5	9152	broad.mit.edu	37	chr11	20648387	20648387	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaaactcacggatgccaCggtgggcttctaattttatc	10	11	11	9	2	2	1	1	0	1	1	3	3	2	2	1	4	2	1	1	4	3	4	rs146647574	byFrequency	TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr11:20648387C>T	ENST00000525748.1	+	8	1667	c.1395_splice	c.e8+1	p.T465_splice		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	465					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	ACGGATGCCACGGTGGGCTTC	0.562													51	60					0	0	1	0	0	T	20648387	C	T	20648387	5	4	205	1	0	0	0	0	0	0	1	0	14742	550	19	1	1424	1	SLC6A5	11	20648387	Splice_Site	SNP	C	TCGA-HC-A631-01A-11D-A29Q-08	18872214	20648387	114358129	37	9698											
KCNJ5	3762	broad.mit.edu	37	chr11	128781513	128781513	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggctcattgcttatatccgGggtgacctggaccatgttgg	6	13	13	9	1	1	1	1	1	0	0	2	2	2	2	3	5	1	3	3	5	2	4			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr11:128781513G>T	ENST00000529694.1	+	2	721	c.345G>T	c.(343-345)cgG>cgT	p.R115R	KCNJ5_ENST00000338350.4_Silent_p.R115R|KCNJ5_ENST00000533599.1_Silent_p.R115R	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	115					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	CTTATATCCGGGGTGACCTGG	0.507													58	61					1.27862e-28	1.38173e-28	1	1	0	T	128781513	G	T	128781513	2	4	205	1	0	0	0	0	0	0	0	1	8098	1219	43	4		4	KCNJ5	11	128781513	Silent	SNP	G	TCGA-HC-A631-01A-11D-A29Q-08	108133126	128781513	6225003	38	9699											
ZBTB44	29068	broad.mit.edu	37	chr11	130130970	130130970	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctcacaagtcacataatcagCcattcttctaccggtctcag	11	11	5	14	1	6	0	4	0	3	0	7	0	6	0	2	1	2	0	2	1	3	4			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr11:130130970C>G	ENST00000525842.1	-	2	1166	c.799G>C	c.(799-801)Gct>Cct	p.A267P	ZBTB44_ENST00000397753.1_Missense_Mutation_p.A267P|ZBTB44_ENST00000357899.4_Missense_Mutation_p.A267P|ZBTB44_ENST00000530205.1_Missense_Mutation_p.A267P	NM_014155.4	NP_054874.3	Q8NCP5	ZBT44_HUMAN	zinc finger and BTB domain containing 44	267					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		ACATAATCAGCCATTCTTCTA	0.433													7	143					0	0	1	0	0	G	130130970	C	G	130130970	3	3	205	1	0	0	0	0	1	0	0	0	17604	739	26	4	582	4	ZBTB44	11	130130970	Missense_Mutation	SNP	C	TCGA-HC-A631-01A-11D-A29Q-08	1349457	130130970	4875546	39	9700											
DDX47	51202	broad.mit.edu	37	chr12	12976860	12976860	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaactcctttatgatattCtgcagcacctgtaataatac	13	13	6	9	0	1	1	0	1	1	0	2	2	2	2	2	1	4	3	2	1	6	7			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr12:12976860C>A	ENST00000358007.3	+	8	829	c.807C>A	c.(805-807)ttC>ttA	p.F269L	DDX47_ENST00000352940.4_Intron|RP11-59H1.3_ENST00000534843.1_3'UTR	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	269	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		TTATGATATTCTGCAGCACCT	0.413													4	138					1	1	1	1	0	A	12976860	C	A	12976860	3	1	205	1	0	0	0	0	1	0	0	0	4388	912	32	4	837	4	DDX47	12	12976860	Missense_Mutation	SNP	C	TCGA-HC-A631-01A-11D-A29Q-08		12976860	120875035	40	9701											
WSCD2	9671	broad.mit.edu	37	chr12	108604003	108604003	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgacatggagtgcaagggCgagcgaggcagcgtgtgcgg	8	5	20	8	5	0	0	0	0	0	0	0	4	0	1	0	4	5	2	0	4	1	0	rs79029951	by1000genomes	TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr12:108604003C>T	ENST00000332082.4	+	5	1421	c.603C>T	c.(601-603)ggC>ggT	p.G201G	WSCD2_ENST00000261400.3_Silent_p.G201G|WSCD2_ENST00000547525.1_Silent_p.G201G|WSCD2_ENST00000549903.1_Silent_p.G201G			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	201	WSC 1.					integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						AGTGCAAGGGCGAGCGAGGCA	0.682													3	29					0	0	1	0	0	T	108604003	C	T	108604003	2	4	205	1	0	0	0	0	0	0	0	1	17467	755	27	1		1	WSCD2	12	108604003	Silent	SNP	C	TCGA-HC-A631-01A-11D-A29Q-08	95627143	108604003	25247892	41	9702											
PARP4	143	broad.mit.edu	37	chr13	25021264	25021264	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatctggattgagttgctGccatttgacggagacagagt	10	11	12	8	1	1	4	0	2	1	2	1	6	1	5	1	2	2	2	1	2	0	3			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr13:25021264G>A	ENST00000381989.3	-	26	3280	c.3175C>T	c.(3175-3177)Cag>Tag	p.Q1059*		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1059					cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TTGAGTTGCTGCCATTTGACG	0.478													4	64					0	0	1	0	0	A	25021264	G	A	25021264	4	1	205	1	0	0	0	0	0	1	0	0	11510	1328	46	2	2035	2	PARP4	13	25021264	Nonsense_Mutation	SNP	G	TCGA-HC-A631-01A-11D-A29Q-08		25021264	90148614	42	9703											
ABHD13	84945	broad.mit.edu	37	chr13	108881587	108881587	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggaaaagtcctggatgctGtggaactttgttgaaagatg	12	12	13	4	0	0	2	0	1	0	1	1	5	1	5	1	3	2	2	1	3	4	2			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr13:108881587G>A	ENST00000375898.3	+	2	322	c.21G>A	c.(19-21)ctG>ctA	p.L7L		NM_032859.2	NP_116248.2	Q7L211	ABHDD_HUMAN	abhydrolase domain containing 13	7						integral to membrane	hydrolase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					CCTGGATGCTGTGGAACTTTG	0.383													7	46					0	0	1	0	0	A	108881587	G	A	108881587	2	1	205	1	0	0	0	0	0	0	0	1	78	1364	48	2		2	ABHD13	13	108881587	Silent	SNP	G	TCGA-HC-A631-01A-11D-A29Q-08	83860323	108881587	6288291	43	9704											
NTRK3	4916	broad.mit.edu	37	chr15	88576148	88576148	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgggggttctcaatgacagGgatgcgagtcatgccaatga	10	9	14	8	1	2	2	2	2	1	0	3	4	2	3	1	3	2	1	1	3	2	1			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr15:88576148G>A	ENST00000394480.1	-	14	1846	c.1525C>T	c.(1525-1527)Cct>Tct	p.P509S	NTRK3_ENST00000557856.1_Missense_Mutation_p.P501S|NTRK3_ENST00000355254.2_Missense_Mutation_p.P509S|NTRK3_ENST00000540489.2_Missense_Mutation_p.P509S|NTRK3_ENST00000360948.2_Missense_Mutation_p.P509S|NTRK3_ENST00000357724.2_Missense_Mutation_p.P501S|NTRK3_ENST00000317501.3_Missense_Mutation_p.P509S|NTRK3_ENST00000558676.1_Missense_Mutation_p.P501S|NTRK3_ENST00000558306.1_5'UTR|NTRK3_ENST00000542733.2_Missense_Mutation_p.P411S	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	509					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TCAATGACAGGGATGCGAGTC	0.607			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)			12	16					0	0	1	0	0	A	88576148	G	A	88576148	3	1	205	1	0	0	0	0	1	0	0	0	10756	1232	43	2	1284	2	NTRK3	15	88576148	Missense_Mutation	SNP	G	TCGA-HC-A631-01A-11D-A29Q-08		88576148	13955244	44	9705											
TP53	7157	broad.mit.edu	37	chr17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggtgaggatgggcctcCggttcatgccgcccatgcag	6	9	15	11	2	1	2	1	2	0	0	2	3	2	3	4	4	2	2	4	4	0	1	rs11540652		TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr17:7577538C>T	ENST00000420246.2	-	7	875	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)		GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)			31	8					0	0	1	0	0	T	7577538	C	T	7577538	3	4	205	1	0	0	0	0	1	0	0	0	16442	652	23	1	547	1	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-HC-A631-01A-11D-A29Q-08		7577538	73617672	45	9706											
RFFL	117584	broad.mit.edu	37	chr17	33341759	33341759	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacagaaacaactacatacCgttttggtcttcggcaccac	14	9	6	12	2	1	1	0	0	1	1	2	1	1	1	2	2	5	2	2	2	5	5			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr17:33341759C>T	ENST00000315249.7	-	6	1132	c.910_splice	c.e6+1	p.G304_splice	RFFL_ENST00000584655.1_Intron|RFFL_ENST00000415395.2_Splice_Site_p.G304_splice|RAD51L3-RFFL_ENST00000593039.1_Intron|RFFL_ENST00000447669.2_Splice_Site_p.G304_splice|RFFL_ENST00000413582.2_Intron|RFFL_ENST00000394597.2_Splice_Site_p.G304_splice|RFFL_ENST00000378516.2_Intron|RFFL_ENST00000268850.7_Intron			Q8WZ73	RFFL_HUMAN	ring finger and FYVE-like domain containing E3 ubiquitin protein ligase	304					apoptosis	membrane	ligase activity|zinc ion binding			kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		AACTACATACCGTTTTGGTCT	0.438													44	63					0	0	1	0	0	T	33341759	C	T	33341759	5	4	205	1	0	0	0	0	0	0	1	0	13302	666	23	1	189	1	RFFL	17	33341759	Splice_Site	SNP	C	TCGA-HC-A631-01A-11D-A29Q-08	25764221	33341759	47853451	46	9707											
ITGA3	3675	broad.mit.edu	37	chr17	48151325	48151325	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcttgggcaaagtgtacaTctatcacagtagctctaagg	12	10	11	8	0	3	0	1	0	2	0	3	0	3	0	0	3	2	5	0	3	5	5			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr17:48151325T>A	ENST00000320031.8	+	8	1532	c.1202T>A	c.(1201-1203)aTc>aAc	p.I401N	ITGA3_ENST00000544892.1_Missense_Mutation_p.I176N|ITGA3_ENST00000007722.7_Missense_Mutation_p.I401N	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	401					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						AAAGTGTACATCTATCACAGT	0.577													25	40					0	0	1	0	0	A	48151325	T	A	48151325	3	1	205	1	0	0	0	0	1	0	0	0	7921	1435	50	5	1232	5	ITGA3	17	48151325	Missense_Mutation	SNP	T	TCGA-HC-A631-01A-11D-A29Q-08	14809566	48151325	33043885	47	9708											
SPIRE1	56907	broad.mit.edu	37	chr18	12463458	12463458	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggctgccgtctctctggctgGggtgttgatgatatgggcag	4	12	17	8	1	2	2	0	2	2	0	3	2	2	2	1	5	1	4	1	5	1	2			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr18:12463458G>T	ENST00000409402.4	-	12	1797	c.1530C>A	c.(1528-1530)ccC>ccA	p.P510P	SPIRE1_ENST00000309836.5_Silent_p.P299P|SPIRE1_ENST00000464481.1_5'UTR|SPIRE1_ENST00000410092.3_Silent_p.P496P|SPIRE1_ENST00000383356.2_Silent_p.P337P|SPIRE1_ENST00000453447.2_Silent_p.P376P	NM_001128626.1	NP_001122098.1	Q08AE8	SPIR1_HUMAN	spire-type actin nucleation factor 1	510						cytoskeleton|perinuclear region of cytoplasm	actin binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						TCTCTGGCTGGGGTGTTGATG	0.458													5	45					1.024e-07	1.072e-07	1	1	0	T	12463458	G	T	12463458	2	4	205	1	0	0	0	0	0	0	0	1	15127	1219	43	4		4	SPIRE1	18	12463458	Silent	SNP	G	TCGA-HC-A631-01A-11D-A29Q-08		12463458	65613790	48	9709											
LPPR3	0	broad.mit.edu	37	chr19	815827	815828	+	Frame_Shift_Ins	INS	-	-	G																															tccaggaagtacaaggatacINSgatggaagaagccactatgg																										TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr19:815827_815828insG	ENST00000359894.2	-	3	162_163	c.99_100insC	c.(97-102)attatcfs	p.I34fs	LPPR3_ENST00000520876.3_Frame_Shift_Ins_p.I34fs	NM_024888.2	NP_079164.1	Q6T4P5	LPPR3_HUMAN		34						integral to membrane	phosphatidate phosphatase activity										TACAAGGATACGATGGAAGAAG	0.599													31	22	---	---	---	---						G	815828	-	G	815827	7	5	205	1	0	1	1	0	0	0	0	0	8971	536	19	0	2160	0	LPPR3	19	815827	Frame_Shift_Ins	INS	-	TCGA-HC-A631-01A-11D-A29Q-08		815827	58313156	49	9710											
MAG	4099	broad.mit.edu	37	chr19	35800810	35800810	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctggagtcccactgcgCggcagcccgagacacggtgc	6	5	13	17	4	0	1	0	0	0	1	2	3	2	2	4	3	3	1	4	3	0	0			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr19:35800810C>T	ENST00000361922.4	+	8	1415	c.1265C>T	c.(1264-1266)gCg>gTg	p.A422V	MAG_ENST00000392213.3_Missense_Mutation_p.A422V|MAG_ENST00000537831.2_Missense_Mutation_p.A397V|MAG_ENST00000593348.1_3'UTR	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	myelin associated glycoprotein	422	Ig-like C2-type 4.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TCCCACTGCGCGGCAGCCCGA	0.677													5	201					0	0	1	0	0	T	35800810	C	T	35800810	3	4	205	1	0	0	0	0	1	0	0	0	9208	768	27	1	1287	1	MAG	19	35800810	Missense_Mutation	SNP	C	TCGA-HC-A631-01A-11D-A29Q-08	34984983	35800810	23328173	50	9711											
NOVA2	4858	broad.mit.edu	37	chr19	46443285	46443285	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttcttggagatctggatgcGagcgcccgtcagctcctggt	5	11	13	12	3	3	1	1	0	2	1	4	4	4	2	2	3	3	1	2	3	0	2			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr19:46443285G>A	ENST00000263257.5	-	4	1509	c.1315C>T	c.(1315-1317)Cgc>Tgc	p.R439C		NM_002516.2	NP_002507.1	Q9UNW9	NOVA2_HUMAN	neuro-oncological ventral antigen 2	439	KH 3.					nucleus	RNA binding			endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		ATCTGGATGCGAGCGCCCGTC	0.657													20	207					0	0	1	0	0	A	46443285	G	A	46443285	3	1	205	1	0	0	0	0	1	0	0	0	10602	1058	37	1	167	1	NOVA2	19	46443285	Missense_Mutation	SNP	G	TCGA-HC-A631-01A-11D-A29Q-08	10642475	46443285	12685698	51	9712											
KIR3DL1	3811	broad.mit.edu	37	chr19	55341599	55341599	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggtgacatacgcacagttgGatcactgcgttttcacacag	11	10	10	10	2	2	1	2	1	0	0	2	2	2	2	0	2	2	3	0	2	1	4			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr19:55341599G>A	ENST00000391728.4	+	9	1237	c.1204G>A	c.(1204-1206)Gat>Aat	p.D402N	KIR3DL1_ENST00000541392.1_Missense_Mutation_p.D385N|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.D402N|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.D307N|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.D385N|KIR3DL1_ENST00000402254.2_Intron	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1											breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CGCACAGTTGGATCACTGCGT	0.512													5	332					0	0	1	0	0	A	55341599	G	A	55341599	3	1	205	1	0	0	0	0	1	0	0	0	8363	1174	41	2	1238	2	KIR3DL1	19	55341599	Missense_Mutation	SNP	G	TCGA-HC-A631-01A-11D-A29Q-08	8898314	55341599	3787384	52	9713											
ZNF134	7693	broad.mit.edu	37	chr19	58132424	58132424	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgagagtattcacactggaGaaaatccttatgattgcagt	14	12	9	6	0	1	3	1	2	0	2	2	5	2	3	1	1	1	2	1	1	4	4			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr19:58132424G>A	ENST00000396161.5	+	3	1247	c.937G>A	c.(937-939)Gaa>Aaa	p.E313K		NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN	zinc finger protein 134	313						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		TCACACTGGAGAAAATCCTTA	0.423													88	98					0	0	1	0	0	A	58132424	G	A	58132424	3	1	205	1	0	0	0	0	1	0	0	0	17782	943	33	2	943	2	ZNF134	19	58132424	Missense_Mutation	SNP	G	TCGA-HC-A631-01A-11D-A29Q-08	2790825	58132424	996559	53	9714											
GNAS	2778	broad.mit.edu	37	chr20	57415456	57415456	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	accttgagctgtccctccccGagtgcctagagtacgaggaa	9	8	11	13	2	0	2	0	1	0	1	2	5	2	3	5	1	3	2	5	1	3	3			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr20:57415456G>C	ENST00000313949.7	+	1	684	c.295G>C	c.(295-297)Gag>Cag	p.E99Q	GNAS-AS1_ENST00000598163.1_RNA|GNAS-AS1_ENST00000443966.1_RNA|GNAS_ENST00000371098.2_Missense_Mutation_p.E99Q|GNAS-AS1_ENST00000424094.2_RNA|GNAS_ENST00000371075.3_Missense_Mutation_p.E99Q			P63092	GNAS2_HUMAN	GNAS complex locus	101			L -> P (in AHO).		activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GTCCCTCCCCGAGTGCCTAGA	0.622			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)			4	119					0	0	1	0	0	C	57415456	G	C	57415456	3	2	205	1	0	0	0	0	1	0	0	0	6552	1059	37	4	297	4	GNAS	20	57415456	Missense_Mutation	SNP	G	TCGA-HC-A631-01A-11D-A29Q-08		57415456	5610064	54	9715											
COL6A1	1291	broad.mit.edu	37	chr21	47410706	47410706	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggggagatggggtacccagGcctgccaggctgcaagggct	7	5	19	10	0	0	1	0	0	0	1	0	2	0	1	3	7	3	4	3	7	2	1	rs121912935		TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chr21:47410706G>A	ENST00000361866.3	+	14	1136	c.1022G>A	c.(1021-1023)gGc>gAc	p.G341D		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	341	Triple-helical region.		G -> D (in BM).|G -> V (in BM).		axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	GGGTACCCAGGCCTGCCAGGC	0.542													42	57					0	0	1	0	0	A	47410706	G	A	47410706	3	1	205	1	0	0	0	0	1	0	0	0	3722	1203	42	2	1076	2	COL6A1	21	47410706	Missense_Mutation	SNP	G	TCGA-HC-A631-01A-11D-A29Q-08		47410706	719189	55	9716											
MTMR1	8776	broad.mit.edu	37	chrX	149895775	149895775	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagctgtacttcaaaaatgtCgagagggtgagttttttaaa	14	13	10	4	1	1	2	1	1	0	1	2	3	1	2	0	1	2	3	0	1	6	5			TCGA-HC-A631-01A-11D-A29Q-08	TCGA-HC-A631-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5949750-2444-4081-ad78-05d4614f4467	9e26e7c1-58ba-4e1d-b9bc-bdac163f4834	g.chrX:149895775C>T	ENST00000445323.2	+	5	562	c.441C>T	c.(439-441)gtC>gtT	p.V147V	MTMR1_ENST00000451863.2_Silent_p.V139V|MTMR1_ENST00000541925.1_Silent_p.V45V|MTMR1_ENST00000544228.1_Silent_p.V139V|MTMR1_ENST00000538506.1_Silent_p.V26V|MTMR1_ENST00000370390.3_Silent_p.V139V|MTMR1_ENST00000542156.1_Silent_p.V139V			Q13613	MTMR1_HUMAN	myotubularin related protein 1	139	GRAM.					plasma membrane	protein tyrosine phosphatase activity	p.V139V(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TCAAAAATGTCGAGAGGGTGA	0.358													31	1					0	0	1	0	0	T	149895775	C	T	149895775	2	4	205	1	0	0	0	0	0	0	0	1	9986	871	31	1		1	MTMR1	23	149895775	Silent	SNP	C	TCGA-HC-A631-01A-11D-A29Q-08		149895775	5374785	56	9717											
UBR4	23352	broad.mit.edu	37	chr1	19403307	19403307	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggttttcagggctttgtcGgcagcttcgtagatgggcat	7	13	14	7	2	1	1	1	0	0	1	3	1	1	1	0	4	1	6	0	4	2	5			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr1:19403307G>T	ENST00000375267.2	-	106	15480	c.15477C>A	c.(15475-15477)gcC>gcA	p.A5159A	UBR4_ENST00000543981.1_Silent_p.A802A|UBR4_ENST00000375225.3_Silent_p.A213A|UBR4_ENST00000375224.1_Silent_p.A845A|UBR4_ENST00000429347.2_Silent_p.A661A|UBR4_ENST00000375254.3_Silent_p.A5138A|UBR4_ENST00000375217.2_Silent_p.A5131A|UBR4_ENST00000375226.2_Silent_p.A5114A			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	5138					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GGGCTTTGTCGGCAGCTTCGT	0.522													73	167					5.04879e-28	5.92262e-28	1	1	0	T	19403307	G	T	19403307	2	4	206	1	0	0	0	0	0	0	0	1	16965	1103	39	4		4	UBR4	1	19403307	Silent	SNP	G	TCGA-HC-A632-01A-11D-A29Q-08		19403307	229847314	1	9718											
CELSR2	1952	broad.mit.edu	37	chr1	109801499	109801499	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctgcgcttcgactcctcCgcgcccttcatcgcctcctc	2	11	8	20	5	1	0	1	0	0	0	7	1	4	0	5	0	2	2	5	0	0	2			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr1:109801499C>T	ENST00000271332.3	+	2	3817	c.3756C>T	c.(3754-3756)tcC>tcT	p.S1252S		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1252	EGF-like 1; calcium-binding.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TCGACTCCTCCGCGCCCTTCA	0.692													7	29					0	0	1	0	0	T	109801499	C	T	109801499	2	4	206	1	0	0	0	0	0	0	0	1	3244	639	23	1		1	CELSR2	1	109801499	Silent	SNP	C	TCGA-HC-A632-01A-11D-A29Q-08	90398192	109801499	139449122	2	9719											
CHI3L2	1117	broad.mit.edu	37	chr1	111783985	111783985	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggagccaagatcacgcggCtccaggatcaacaggttccc	12	5	11	13	2	2	1	2	0	0	1	4	3	4	3	3	4	2	2	3	4	3	1			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr1:111783985C>T	ENST00000445067.2	+	11	1726	c.955C>T	c.(955-957)Ctc>Ttc	p.L319F	CHI3L2_ENST00000524472.1_Missense_Mutation_p.L240F|CHI3L2_ENST00000369748.4_Missense_Mutation_p.L319F|CHI3L2_ENST00000369744.2_Missense_Mutation_p.L309F|CHI3L2_ENST00000529459.1_3'UTR|CHI3L2_ENST00000466741.1_Missense_Mutation_p.L240F			Q15782	CH3L2_HUMAN	chitinase 3-like 2	319					chitin catabolic process	extracellular space	cation binding|chitinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1)	19		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)		GATCACGCGGCTCCAGGATCA	0.537													34	69					0	0	1	0	0	T	111783985	C	T	111783985	3	4	206	1	0	0	0	0	1	0	0	0	3363	797	28	2	989	2	CHI3L2	1	111783985	Missense_Mutation	SNP	C	TCGA-HC-A632-01A-11D-A29Q-08	1982486	111783985	137466636	3	9720											
ARHGEF2	9181	broad.mit.edu	37	chr1	155931554	155931554	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggggcccttgccaggcactgGggtttgggcccgagggtcca	4	7	18	12	1	0	0	0	0	0	0	1	1	1	0	4	7	1	2	4	7	0	2			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr1:155931554G>A	ENST00000368316.1	-	15	1752	c.1282C>T	c.(1282-1284)Cca>Tca	p.P428S	ARHGEF2_ENST00000368315.3_Missense_Mutation_p.P457S|ARHGEF2_ENST00000361247.4_Missense_Mutation_p.P456S|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.P455S|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.P428S			Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	456	DH.				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CCAGGCACTGGGGTTTGGGCC	0.602													22	82					0	0	1	0	0	A	155931554	G	A	155931554	3	1	206	1	0	0	0	0	1	0	0	0	900	1232	43	2	1642	2	ARHGEF2	1	155931554	Missense_Mutation	SNP	G	TCGA-HC-A632-01A-11D-A29Q-08	44147569	155931554	93319067	4	9721											
CD1C	911	broad.mit.edu	37	chr1	158260938	158260938	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaagcatcccaggaacacGtctccttccatgtcatccag	12	8	6	15	1	2	0	1	0	1	0	6	1	5	1	4	1	2	1	4	1	3	1			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr1:158260938G>A	ENST00000368170.3	+	2	355	c.76G>A	c.(76-78)Gtc>Atc	p.V26I		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	26					antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					CCAGGAACACGTCTCCTTCCA	0.483													18	44					0	0	1	0	0	A	158260938	G	A	158260938	3	1	206	1	0	0	0	0	1	0	0	0	2998	1145	40	1	82	1	CD1C	1	158260938	Missense_Mutation	SNP	G	TCGA-HC-A632-01A-11D-A29Q-08	2329384	158260938	90989683	5	9722											
SELP	6403	broad.mit.edu	37	chr1	169586560	169586560	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggccactaagtctgtgtagcGattctggcagtatttacggg	8	12	13	8	2	2	0	0	0	2	0	2	1	2	0	1	3	2	3	1	3	4	6			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr1:169586560G>A	ENST00000263686.6	-	3	224	c.187C>T	c.(187-189)Cgc>Tgc	p.R63C	SELP_ENST00000367794.2_Missense_Mutation_p.R63C|SELP_ENST00000367786.2_Missense_Mutation_p.R63C|SELP_ENST00000367792.2_Missense_Mutation_p.R63C|SELP_ENST00000458599.2_Missense_Mutation_p.R63C|SELP_ENST00000367793.2_Missense_Mutation_p.R63C|SELP_ENST00000367791.2_Missense_Mutation_p.R63C|SELP_ENST00000367788.2_Missense_Mutation_p.R63C	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	63	C-type lectin.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	p.R63C(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	TCTGTGTAGCGATTCTGGCAG	0.403													66	130					0	0	1	0	0	A	169586560	G	A	169586560	3	1	206	1	0	0	0	0	1	0	0	0	14073	1058	37	1	2361	1	SELP	1	169586560	Missense_Mutation	SNP	G	TCGA-HC-A632-01A-11D-A29Q-08	11325622	169586560	79664061	6	9723											
CFH	3075	broad.mit.edu	37	chr1	196658725	196658725	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcacacaagatggatggtcGccagcagtaccatgcctcag	11	7	11	12	1	1	1	1	0	0	1	2	2	1	2	3	2	4	3	3	2	2	1			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr1:196658725G>A	ENST00000367429.4	+	8	1380	c.1140G>A	c.(1138-1140)tcG>tcA	p.S380S	CFH_ENST00000359637.2_Silent_p.S316S|CFH_ENST00000439155.2_Silent_p.S380S	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	380	Sushi 6.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ATGGATGGTCGCCAGCAGTAC	0.393													43	68					0	0	1	0	0	A	196658725	G	A	196658725	2	1	206	1	0	0	0	0	0	0	0	1	3305	1074	38	1		1	CFH	1	196658725	Silent	SNP	G	TCGA-HC-A632-01A-11D-A29Q-08	27072165	196658725	52591896	7	9724											
PARP1	142	broad.mit.edu	37	chr1	226555255	226555255	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcatcagaccctcccctgaGcagactgtaggccacctcga	10	7	8	16	1	2	3	2	1	0	2	4	4	3	3	5	1	1	2	5	1	1	1			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr1:226555255G>A	ENST00000366794.5	-	17	2475	c.2332C>T	c.(2332-2334)Ctc>Ttc	p.L778F	PARP1_ENST00000490921.1_5'UTR	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	778	PARP alpha-helical.				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		CCTCCCCTGAGCAGACTGTAG	0.512								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					38	71					0	0	1	0	0	A	226555255	G	A	226555255	3	1	206	1	0	0	0	0	1	0	0	0	11501	971	34	2	740	2	PARP1	1	226555255	Missense_Mutation	SNP	G	TCGA-HC-A632-01A-11D-A29Q-08	29896530	226555255	22695366	8	9725											
CCDC85A	114800	broad.mit.edu	37	chr2	56419681	56419681	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtttcctggatgatgacCggcagaaaggcaagagggtg	10	8	16	7	1	0	4	0	2	0	2	1	5	1	5	2	4	0	4	2	4	2	1			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr2:56419681C>T	ENST00000407595.2	+	2	848	c.346C>T	c.(346-348)Cgg>Tgg	p.R116W	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	116										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GGATGATGACCGGCAGAAAGG	0.527													28	56					0	0	1	0	0	T	56419681	C	T	56419681	3	4	206	1	0	0	0	0	1	0	0	0	2879	643	23	1	352	1	CCDC85A	2	56419681	Missense_Mutation	SNP	C	TCGA-HC-A632-01A-11D-A29Q-08		56419681	186779692	9	9726											
FAHD2A	51011	broad.mit.edu	37	chr2	96072721	96072721	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagttgccagtcctaccacGgtcggaggtaaccttcctgg	7	9	11	14	2	0	0	0	0	0	0	3	1	2	1	6	4	3	2	6	4	2	4			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr2:96072721G>A	ENST00000233379.4	+	3	431	c.278G>A	c.(277-279)cGg>cAg	p.R93Q	FAHD2A_ENST00000447036.1_Missense_Mutation_p.R93Q	NM_016044.2	NP_057128.2	Q96GK7	FAH2A_HUMAN	fumarylacetoacetate hydrolase domain containing 2A	93							hydrolase activity|metal ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	8						GTCCTACCACGGTCGGAGGTA	0.597													16	36					0	0	1	0	0	A	96072721	G	A	96072721	3	1	206	1	0	0	0	0	1	0	0	0	5404	1116	39	1	284	1	FAHD2A	2	96072721	Missense_Mutation	SNP	G	TCGA-HC-A632-01A-11D-A29Q-08	39653040	96072721	147126652	10	9727											
LRP1B	53353	broad.mit.edu	37	chr2	140990833	140990833	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcatcaacacttcctaaggaGtttcgacagttttgcccatc	10	13	6	12	1	2	0	2	0	0	0	5	2	3	1	2	1	2	2	2	1	2	5			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr2:140990833G>T	ENST00000389484.3	-	91	14693	c.13722C>A	c.(13720-13722)aaC>aaA	p.N4574K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4574					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTCCTAAGGAGTTTCGACAGT	0.323										TSP Lung(27;0.18)			9	14					2.17888e-05	2.41657e-05	1	1	0	T	140990833	G	T	140990833	3	4	206	1	0	0	0	0	1	0	0	0	9000	1020	36	4	81	4	LRP1B	2	140990833	Missense_Mutation	SNP	G	TCGA-HC-A632-01A-11D-A29Q-08	44918112	140990833	102208540	11	9728											
TNS1	7145	broad.mit.edu	37	chr2	218683397	218683397	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcccaggctgcctgagcGgaagccagactccaacagag	10	5	12	14	1	0	3	0	1	0	2	2	4	2	4	4	2	4	1	4	2	2	0	rs151035362	byFrequency	TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr2:218683397G>A	ENST00000171887.4	-	24	3798	c.3346C>T	c.(3346-3348)Cgc>Tgc	p.R1116C	TNS1_ENST00000430930.1_Missense_Mutation_p.R1095C|TNS1_ENST00000419504.1_Missense_Mutation_p.R1103C	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1116	Ser-rich.					cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CTGCCTGAGCGGAAGCCAGAC	0.637													42	58					0	0	1	0	0	A	218683397	G	A	218683397	3	1	206	1	0	0	0	0	1	0	0	0	16403	1116	39	1	1901	1	TNS1	2	218683397	Missense_Mutation	SNP	G	TCGA-HC-A632-01A-11D-A29Q-08	77692564	218683397	24515976	12	9729											
C2orf54	79919	broad.mit.edu	37	chr2	241827877	241827877	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctggcgaagccctccacGcgctggtagatggcaccaag	8	6	14	13	3	0	1	0	0	0	1	1	2	1	1	3	4	1	4	3	4	3	1			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr2:241827877G>A	ENST00000307486.8	-	4	734	c.636C>T	c.(634-636)cgC>cgT	p.R212R	C2orf54_ENST00000388934.4_Silent_p.R361R|C2orf54_ENST00000402775.2_Silent_p.R193R			Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	361										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		AGCCCTCCACGCGCTGGTAGA	0.736													7	26					0	0	1	0	0	A	241827877	G	A	241827877	2	1	206	1	0	0	0	0	0	0	0	1	2189	1074	38	1		1	C2orf54	2	241827877	Silent	SNP	G	TCGA-HC-A632-01A-11D-A29Q-08	23144480	241827877	1371496	13	9730											
AGTR1	185	broad.mit.edu	37	chr3	148459144	148459144	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaagattgcttcagccagcGtcagtttcaacctgtacgct	9	12	9	11	2	3	1	3	0	0	1	3	1	3	1	2	0	5	5	2	0	3	5			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr3:148459144G>A	ENST00000542281.1	+	4	768	c.322G>A	c.(322-324)Gtc>Atc	p.V108I	AGTR1_ENST00000404754.2_Missense_Mutation_p.V108I|AGTR1_ENST00000349243.3_Missense_Mutation_p.V108I|AGTR1_ENST00000418473.2_Missense_Mutation_p.V108I|AGTR1_ENST00000461609.1_Missense_Mutation_p.V108I|AGTR1_ENST00000497524.1_Missense_Mutation_p.V108I|AGTR1_ENST00000402260.1_Missense_Mutation_p.V108I|AGTR1_ENST00000474935.1_Missense_Mutation_p.V108I|AGTR1_ENST00000475347.1_Missense_Mutation_p.V108I	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	108					calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	TTCAGCCAGCGTCAGTTTCAA	0.478													50	80					0	0	1	0	0	A	148459144	G	A	148459144	3	1	206	1	0	0	0	0	1	0	0	0	398	1145	40	1	324	1	AGTR1	3	148459144	Missense_Mutation	SNP	G	TCGA-HC-A632-01A-11D-A29Q-08		148459144	49563286	14	9731											
PLCH1	23007	broad.mit.edu	37	chr3	155198914	155198914	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcaaggccaccccctttcGtgttcttcaggtagcctgcg	5	12	9	15	2	3	0	2	0	1	0	4	0	3	0	4	2	2	2	4	2	2	5			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr3:155198914G>A	ENST00000460012.1	-	23	5168	c.4811C>T	c.(4810-4812)aCg>aTg	p.T1604M	PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000340059.7_Missense_Mutation_p.T1642M|PLCH1_ENST00000334686.6_Missense_Mutation_p.T1604M|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000414191.1_Missense_Mutation_p.T1604M			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1642					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ACCCCCTTTCGTGTTCTTCAG	0.557													12	89					0	0	1	0	0	A	155198914	G	A	155198914	3	1	206	1	0	0	0	0	1	0	0	0	12085	1145	40	1	160	1	PLCH1	3	155198914	Missense_Mutation	SNP	G	TCGA-HC-A632-01A-11D-A29Q-08	6739770	155198914	42823516	15	9732											
RUFY3	22902	broad.mit.edu	37	chr4	71640889	71640889	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttccccttcccccagagacGgtcagattactgcaattctg	8	11	7	15	1	2	2	1	0	1	2	4	3	4	2	4	1	2	1	4	1	2	4			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr4:71640889G>T	ENST00000226328.4	+	7	1326	c.763G>T	c.(763-765)Ggt>Tgt	p.G255C	RUFY3_ENST00000536664.1_Missense_Mutation_p.G239C|RUFY3_ENST00000417478.2_Missense_Mutation_p.G315C|RUFY3_ENST00000381006.3_Missense_Mutation_p.G255C|RUFY3_ENST00000502653.1_Missense_Mutation_p.G202C	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	255					negative regulation of axonogenesis	filopodium|growth cone				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			CCCCAGAGACGGTCAGATTAC	0.358													15	68					0.0332995	0.0350219	1	1	0	T	71640889	G	T	71640889	3	4	206	1	0	0	0	0	1	0	0	0	13792	1116	39	4	1151	4	RUFY3	4	71640889	Missense_Mutation	SNP	G	TCGA-HC-A632-01A-11D-A29Q-08		71640889	119513387	16	9733											
RAB33B	83452	broad.mit.edu	37	chr4	140393995	140393995	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atagaagaatgcaaacaacaTttgctagccaatgatatacc	18	9	6	8	0	0	3	0	1	0	2	0	3	0	3	2	0	6	2	2	0	9	5			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr4:140393995T>C	ENST00000305626.5	+	2	794	c.405T>C	c.(403-405)caT>caC	p.H135H		NM_031296.1	NP_112586.1	Q9H082	RB33B_HUMAN	RAB33B, member RAS oncogene family	135					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding			large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4	all_hematologic(180;0.162)					GCAAACAACATTTGCTAGCCA	0.393													53	75					0	0	1	0	0	C	140393995	T	C	140393995	2	2	206	1	0	0	0	0	0	0	0	1	12975	1490	52	3		3	RAB33B	4	140393995	Silent	SNP	T	TCGA-HC-A632-01A-11D-A29Q-08	68753106	140393995	50760281	17	9734											
ZNF827	152485	broad.mit.edu	37	chr4	146824152	146824152	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtctcgcaggacctcactgtCcagtgccaccagctccaacg	8	7	9	17	2	2	0	1	0	1	0	5	1	4	1	5	1	3	2	5	1	1	0			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr4:146824152C>A	ENST00000508784.1	-	2	486	c.259G>T	c.(259-261)Gac>Tac	p.D87Y	ZNF827_ENST00000379448.4_Missense_Mutation_p.D87Y|ZNF827_ENST00000513320.1_Intron			Q17R98	ZN827_HUMAN	zinc finger protein 827	87					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					ACCTCACTGTCCAGTGCCACC	0.602													27	40					1.1804e-14	1.33341e-14	1	1	0	A	146824152	C	A	146824152	3	1	206	1	0	0	0	0	1	0	0	0	18227	855	30	4	3022	4	ZNF827	4	146824152	Missense_Mutation	SNP	C	TCGA-HC-A632-01A-11D-A29Q-08	6430157	146824152	44330124	18	9735											
NKD2	85409	broad.mit.edu	37	chr5	1038447	1038449	+	In_Frame_Del	DEL	CAC	CAC	-																															agcaccaccaccaccacgagCaccaccaccaccaccaccac																								rs3840989		TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr5:1038447_1038449delCAC	ENST00000296849.5	+	10	1544_1546	c.1315_1317delCAC	c.(1315-1317)del	p.H447del	NKD2_ENST00000274150.4_3'UTR|NKD2_ENST00000382730.2_In_Frame_Del_p.AP78del	NM_033120.2	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	447	His-rich.				exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			ccaccacgagcaccaccaccacc	0.69													2	4	---	---	---	---						-	1038449	CAC	-	1038447	7	5	206	1	0	1	0	1	0	0	0	0	10489	710	25	0	1353	0	NKD2	5	1038447	In_Frame_Del	DEL	CAC	TCGA-HC-A632-01A-11D-A29Q-08		1038447	179876813	19	9736											
DDX4	54514	broad.mit.edu	37	chr5	55094308	55094308	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgttgctgttggacaagtGggtggagcatgtagagatgt	8	14	16	3	0	0	1	0	0	0	1	0	4	0	3	0	3	2	5	0	3	2	4			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr5:55094308G>A	ENST00000505374.1	+	18	1616	c.1524G>A	c.(1522-1524)gtG>gtA	p.V508V	DDX4_ENST00000514278.2_Silent_p.V488V|DDX4_ENST00000511853.1_Silent_p.V359V|DDX4_ENST00000353507.5_Silent_p.V474V|DDX4_ENST00000354991.5_Silent_p.V474V	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	508					multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				TTGGACAAGTGGGTGGAGCAT	0.393													27	101					0	0	1	0	0	A	55094308	G	A	55094308	2	1	206	1	0	0	0	0	0	0	0	1	4383	1335	47	2		2	DDX4	5	55094308	Silent	SNP	G	TCGA-HC-A632-01A-11D-A29Q-08	54055861	55094308	125820952	20	9737											
APC	324	broad.mit.edu	37	chr5	112179432	112179432	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taatggcagtgttcccatgcGtaccgtgggtttggaaaatc	9	12	12	8	2	0	0	0	0	0	0	2	1	1	1	2	3	2	4	2	3	4	4			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr5:112179432G>A	ENST00000457016.1	+	16	8521	c.8141G>A	c.(8140-8142)cGt>cAt	p.R2714H	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.R2714H|APC_ENST00000508376.2_Missense_Mutation_p.R2714H			P25054	APC_HUMAN	adenomatous polyposis coli	2714	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.R2714H(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GTTCCCATGCGTACCGTGGGT	0.423		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			33	96					0	0	1	0	0	A	112179432	G	A	112179432	3	1	206	1	0	0	0	0	1	0	0	0	759	1145	40	1	8199	1	APC	5	112179432	Missense_Mutation	SNP	G	TCGA-HC-A632-01A-11D-A29Q-08	57085124	112179432	68735828	21	9738											
PCDHB7	0	broad.mit.edu	37	chr5	140553173	140553173	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctacaaggtgcaggtgcccGaaaatagccccgttggttcc	9	9	11	12	2	1	0	0	0	1	0	2	1	2	0	4	3	4	3	4	3	5	4			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr5:140553173G>T	ENST00000231137.3	+	1	931	c.757G>T	c.(757-759)Gaa>Taa	p.E253*		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		253	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E253K(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCAGGTGCCCGAAAATAGCCC	0.517													47	70					1.22102e-19	1.40532e-19	1	1	0	T	140553173	G	T	140553173	4	4	206	1	0	0	0	0	0	1	0	0	11594	1059	37	4	759	4	PCDHB7	5	140553173	Nonsense_Mutation	SNP	G	TCGA-HC-A632-01A-11D-A29Q-08	28373741	140553173	40362087	22	9739											
GCNT2	2651	broad.mit.edu	37	chr6	10529594	10529594	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcagctgcttcccaaatgcTtttctggcttccaagaagga	9	12	8	12	0	2	1	1	0	1	1	4	2	4	2	2	2	3	4	2	2	3	4			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr6:10529594T>A	ENST00000379597.3	+	1	1006	c.450T>A	c.(448-450)gcT>gcA	p.A150A	GCNT2_ENST00000495262.1_Silent_p.A150A|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000397423.2_Intron			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	150						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		TCCCAAATGCTTTTCTGGCTT	0.512													39	56					0	0	1	0	0	A	10529594	T	A	10529594	2	1	206	1	0	0	0	0	0	0	0	1	6341	1596	56	5		5	GCNT2	6	10529594	Silent	SNP	T	TCGA-HC-A632-01A-11D-A29Q-08		10529594	160585473	23	9740											
IL17A	3605	broad.mit.edu	37	chr6	52053926	52053926	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccacttgggctgcatcaacGctgatgggaacgtggactac	9	8	13	11	2	1	1	1	1	0	0	1	3	1	3	1	3	4	3	1	3	3	2			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr6:52053926G>A	ENST00000340057.1	+	3	349	c.304G>A	c.(304-306)Gct>Act	p.A102T		NM_002190.2	NP_002181.1	Q16552	IL17_HUMAN	interleukin 17A	102					apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation	extracellular space	cytokine activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17	Lung NSC(77;0.116)					CTGCATCAACGCTGATGGGAA	0.582													25	28					0	0	1	0	0	A	52053926	G	A	52053926	3	1	206	1	0	0	0	0	1	0	0	0	7678	1087	38	1	314	1	IL17A	6	52053926	Missense_Mutation	SNP	G	TCGA-HC-A632-01A-11D-A29Q-08	41524332	52053926	119061141	24	9741											
GCK	2645	broad.mit.edu	37	chr7	44198715	44198715	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctccttgtgacatccatcGccatctctccgaggggctaa	7	10	10	14	2	1	1	0	1	1	0	6	2	4	1	4	3	0	2	4	3	1	2			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr7:44198715G>A	ENST00000345378.2	-	1	166	c.5C>T	c.(4-6)gCg>gTg	p.A2V	GCK_ENST00000403799.3_Intron|GCK_ENST00000476008.1_Intron|GCK_ENST00000437084.1_Intron|GCK_ENST00000395796.3_5'UTR	NM_033507.1	NP_277042.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	0					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding	p.A2V(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						GACATCCATCGCCATCTCTCC	0.592													5	111					0	0	1	0	0	A	44198715	G	A	44198715	3	1	206	1	0	0	0	0	1	0	0	0	6333	1087	38	1	1481	1	GCK	7	44198715	Missense_Mutation	SNP	G	TCGA-HC-A632-01A-11D-A29Q-08		44198715	114939948	25	9742											
PLEC	5339	broad.mit.edu	37	chr8	144995284	144995284	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccttctcaaagacgtccCgggcctcggagtcagtgtag	7	9	13	12	3	2	1	2	0	1	1	5	2	3	2	3	3	0	1	3	3	2	2			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr8:144995284C>T	ENST00000322810.4	-	32	9285	c.9116G>A	c.(9115-9117)cGg>cAg	p.R3039Q	PLEC_ENST00000354589.3_Missense_Mutation_p.R2902Q|PLEC_ENST00000436759.2_Missense_Mutation_p.R2929Q|PLEC_ENST00000354958.2_Missense_Mutation_p.R2880Q|PLEC_ENST00000527096.1_Missense_Mutation_p.R2925Q|PLEC_ENST00000398774.2_Missense_Mutation_p.R2870Q|PLEC_ENST00000356346.3_Missense_Mutation_p.R2888Q|PLEC_ENST00000357649.2_Missense_Mutation_p.R2906Q|PLEC_ENST00000345136.3_Missense_Mutation_p.R2902Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3039	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AAAGACGTCCCGGGCCTCGGA	0.622													79	52					0	0	1	0	0	T	144995284	C	T	144995284	3	4	206	1	0	0	0	0	1	0	0	0	12100	652	23	1	4942	1	PLEC	8	144995284	Missense_Mutation	SNP	C	TCGA-HC-A632-01A-11D-A29Q-08		144995284	1368738	26	9743											
UBAP2	55833	broad.mit.edu	37	chr9	33923825	33923825	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccatactggaaggcactggGcatgcctgtgtagtagggaa	10	8	15	8	0	0	0	0	0	0	0	0	2	0	2	2	4	2	4	2	4	5	3			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr9:33923825G>A	ENST00000379238.1	-	24	2881	c.2764C>T	c.(2764-2766)Ccc>Tcc	p.P922S	UBAP2_ENST00000379235.1_Missense_Mutation_p.P161S|UBAP2_ENST00000379239.4_Missense_Mutation_p.P655S|UBAP2_ENST00000539807.1_Missense_Mutation_p.P677S|UBAP2_ENST00000449054.1_Missense_Mutation_p.P922S|UBAP2_ENST00000360802.1_Missense_Mutation_p.P922S			Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	922										endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		AAGGCACTGGGCATGCCTGTG	0.572													34	70					0	0	1	0	0	A	33923825	G	A	33923825	3	1	206	1	0	0	0	0	1	0	0	0	16898	1203	42	2	619	2	UBAP2	9	33923825	Missense_Mutation	SNP	G	TCGA-HC-A632-01A-11D-A29Q-08		33923825	107289606	27	9744											
POLR3A	11128	broad.mit.edu	37	chr10	79742556	79742556	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggatgtgcagatggaatatCtcactgtctcagcgttcacc	9	12	10	10	1	3	1	3	0	2	1	5	3	3	3	1	2	2	2	1	2	2	2			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr10:79742556C>T	ENST00000372371.3	-	27	3586	c.3449G>A	c.(3448-3450)aGa>aAa	p.R1150K		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	1150					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GATGGAATATCTCACTGTCTC	0.507													5	58					0	0	1	0	0	T	79742556	C	T	79742556	3	4	206	1	0	0	0	0	1	0	0	0	12276	913	32	2	743	2	POLR3A	10	79742556	Missense_Mutation	SNP	C	TCGA-HC-A632-01A-11D-A29Q-08		79742556	55792191	28	9745											
FAM45A	404636	broad.mit.edu	37	chr10	120883051	120883051	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttacgtgcacctcaacgccGatgagctggaagccctgcag	9	7	11	14	3	1	1	1	1	0	0	1	3	1	2	3	1	6	3	3	1	3	1			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr10:120883051G>A	ENST00000361432.2	+	6	690	c.664G>A	c.(664-666)Gat>Aat	p.D222N	FAM45A_ENST00000489988.1_3'UTR|FAM45A_ENST00000535029.1_Silent_p.P184P|FAM45A_ENST00000544016.1_Missense_Mutation_p.D71N	NM_207009.2	NP_996892.1	Q8TCE6	FA45A_HUMAN	family with sequence similarity 45, member A	222										breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	14		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0293)		CCTCAACGCCGATGAGCTGGA	0.507													4	19					0	0	1	0	0	A	120883051	G	A	120883051	3	1	206	1	0	0	0	0	1	0	0	0	5600	1058	37	1	686	1	FAM45A	10	120883051	Missense_Mutation	SNP	G	TCGA-HC-A632-01A-11D-A29Q-08	41140495	120883051	14651696	29	9746											
MRPL23	6150	broad.mit.edu	37	chr11	1972238	1972238	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgaggacaccgtgcagttcCggatccccatggagtgagtc	8	7	13	13	3	0	1	0	1	0	0	3	5	2	4	5	3	1	2	5	3	0	1			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr11:1972238C>T	ENST00000381514.3	+	2	149	c.127C>T	c.(127-129)Cgg>Tgg	p.R43W	MRPL23_ENST00000397294.3_Missense_Mutation_p.R43W|MRPL23_ENST00000397298.3_Missense_Mutation_p.R43W|MRPL23_ENST00000381519.1_Missense_Mutation_p.R43W|MRPL23_ENST00000486931.1_3'UTR|MRPL23_ENST00000397297.3_Missense_Mutation_p.R43W			Q16540	RM23_HUMAN	mitochondrial ribosomal protein L23	43					translation	mitochondrial large ribosomal subunit	nucleotide binding|RNA binding|structural constituent of ribosome			large_intestine(2)|lung(1)|ovary(1)	4		all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842)		CGTGCAGTTCCGGATCCCCAT	0.657													6	11					0	0	1	0	0	T	1972238	C	T	1972238	3	4	206	1	0	0	0	0	1	0	0	0	9838	643	23	1	133	1	MRPL23	11	1972238	Missense_Mutation	SNP	C	TCGA-HC-A632-01A-11D-A29Q-08		1972238	133034278	30	9747											
OR4A16	81327	broad.mit.edu	37	chr11	55111605	55111605	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttaagtatagttagaaaaaGagtatctcccacactgaaca	17	10	7	7	0	1	3	0	1	1	2	2	3	1	3	1	0	1	4	1	0	8	5			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr11:55111605G>A	ENST00000314721.2	+	1	979	c.929G>A	c.(928-930)aGa>aAa	p.R310K		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						GTTAGAAAAAGAGTATCTCCC	0.348													7	36					0	0	1	0	0	A	55111605	G	A	55111605	3	1	206	1	0	0	0	0	1	0	0	0	11089	942	33	2	931	2	OR4A16	11	55111605	Missense_Mutation	SNP	G	TCGA-HC-A632-01A-11D-A29Q-08	53139367	55111605	79894911	31	9748											
SIPA1	6494	broad.mit.edu	37	chr11	65414869	65414869	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcagctggtgagccgtggCtgcgagacccgcgagctggc	5	5	17	14	5	0	2	0	1	0	1	0	4	0	2	3	3	4	4	3	3	0	0			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr11:65414869C>T	ENST00000394224.3	+	9	2342	c.2046C>T	c.(2044-2046)ggC>ggT	p.G682G	SIPA1_ENST00000527525.1_Silent_p.G580G|SIPA1_ENST00000394227.3_Silent_p.G580G|SIPA1_ENST00000534313.1_Silent_p.G682G	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	682					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						TGAGCCGTGGCTGCGAGACCC	0.756													3	0					0	0	1	0	0	T	65414869	C	T	65414869	2	4	206	1	0	0	0	0	0	0	0	1	14383	784	28	2		2	SIPA1	11	65414869	Silent	SNP	C	TCGA-HC-A632-01A-11D-A29Q-08	10303264	65414869	69591647	32	9749											
B3GAT1	27087	broad.mit.edu	37	chr11	134253732	134253732	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggtcgcgggcgtctccgcGcagcttgtagttgcggggcg	2	9	19	11	7	1	0	0	0	1	0	3	0	1	0	1	4	2	4	1	4	1	3			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr11:134253732G>A	ENST00000524765.1	-	3	5007	c.463C>T	c.(463-465)Cgc>Tgc	p.R155C	B3GAT1_ENST00000312527.4_Missense_Mutation_p.R155C|B3GAT1_ENST00000537389.1_Missense_Mutation_p.R168C|B3GAT1_ENST00000392580.1_Missense_Mutation_p.R155C			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P)	155					carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		GCGTCTCCGCGCAGCTTGTAG	0.736													4	17					0	0	1	0	0	A	134253732	G	A	134253732	3	1	206	1	0	0	0	0	1	0	0	0	1251	1087	38	1	553	1	B3GAT1	11	134253732	Missense_Mutation	SNP	G	TCGA-HC-A632-01A-11D-A29Q-08	68838863	134253732	752784	33	9750											
LTBR	4055	broad.mit.edu	37	chr12	6494476	6494476	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggaatgttctgtgctgccTgggccctcgagtgtacacac	6	10	13	12	2	1	0	0	0	1	0	2	2	1	1	2	2	3	3	2	2	2	2			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr12:6494476T>G	ENST00000228918.4	+	4	729	c.403T>G	c.(403-405)Tgg>Ggg	p.W135G	LTBR_ENST00000541102.1_Missense_Mutation_p.W28G|LTBR_ENST00000539925.1_Missense_Mutation_p.W116G|LTBR_ENST00000543190.1_Missense_Mutation_p.W28G	NM_002342.1	NP_002333.1	P36941	TNR3_HUMAN	lymphotoxin beta receptor (TNFR superfamily, member 3)	135					apoptosis|cellular response to mechanical stimulus|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	protein binding|receptor activity			breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						CTGTGCTGCCTGGGCCCTCGA	0.622													29	65					0	0	1	0	0	G	6494476	T	G	6494476	3	3	206	1	0	0	0	0	1	0	0	0	9122	1580	55	5	417	5	LTBR	12	6494476	Missense_Mutation	SNP	T	TCGA-HC-A632-01A-11D-A29Q-08		6494476	127357419	34	9751											
USP15	9958	broad.mit.edu	37	chr12	62777656	62777656	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgcacctcagttctctggAtatcagcagcaagactgtca	10	12	8	11	0	4	1	3	0	1	1	5	2	4	2	1	1	3	4	1	1	2	3			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr12:62777656A>G	ENST00000280377.5	+	10	1183	c.1125A>G	c.(1123-1125)ggA>ggG	p.G375G	USP15_ENST00000353364.3_Silent_p.G346G|USP15_ENST00000393654.3_Silent_p.G350G	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	375					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		AGTTCTCTGGATATCAGCAGC	0.348													24	42					0	0	1	0	0	G	62777656	A	G	62777656	2	3	206	1	0	0	0	0	0	0	0	1	17106	320	12	3		3	USP15	12	62777656	Silent	SNP	A	TCGA-HC-A632-01A-11D-A29Q-08	56283180	62777656	71074239	35	9752											
CCDC64	92558	broad.mit.edu	37	chr12	120427782	120427784	+	In_Frame_Del	DEL	CCG	CCG	-																															cggggacgcagtccggagtcCcgccgccgccgccgccctca																										TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr12:120427782_120427784delCCG	ENST00000397558.2	+	1	110_112	c.110_112delCCG	c.(109-114)ccc>c	p.PA37del		NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	37					Golgi to secretory granule transport|neuron projection development	centrosome	dynactin binding|Rab GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTCCGGAGTCCCGCCGCCGCCGC	0.759													3	4	---	---	---	---						-	120427784	CCG	-	120427782	7	5	206	1	0	1	0	1	0	0	0	0	2855	623	22	0	112	0	CCDC64	12	120427782	In_Frame_Del	DEL	CCG	TCGA-HC-A632-01A-11D-A29Q-08	57650126	120427782	13424113	36	9753											
F10	2159	broad.mit.edu	37	chr13	113795319	113795319	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggtgtgctcctgcgccCgcgggtacaccctggctgac	3	9	14	15	3	0	1	0	1	0	0	1	1	1	1	3	3	3	3	3	3	1	1	rs138587138		TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr13:113795319C>T	ENST00000375559.3	+	5	495	c.457C>T	c.(457-459)Cgc>Tgc	p.R153C	F10_ENST00000375551.3_Missense_Mutation_p.R153C|F10_ENST00000409306.1_Missense_Mutation_p.R153C	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	153	EGF-like 2.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTCCTGCGCCCGCGGGTACAC	0.657													31	66					0	0	1	0	0	T	113795319	C	T	113795319	3	4	206	1	0	0	0	0	1	0	0	0	5364	652	23	1	475	1	F10	13	113795319	Missense_Mutation	SNP	C	TCGA-HC-A632-01A-11D-A29Q-08		113795319	1374559	37	9754											
NR2E3	10002	broad.mit.edu	37	chr15	72105883	72105883	+	RNA	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggccagcatggagacgcGtgtcctgcaggaaactatct	9	8	13	11	2	1	1	0	0	1	1	2	3	2	2	2	3	3	3	2	3	2	1			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr15:72105883G>T	ENST00000398840.2	+	0	1092							Q9Y5X4	NR2E3_HUMAN	nuclear receptor subfamily 2, group E, member 3						phototransduction|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|endometrium(1)|lung(1)	3						ATGGAGACGCGTGTCCTGCAG	0.647													3	37					0.115264	0.119171	1	1	0	T	72105883	G	T	72105883	1	4	206	0	1	0	0	0	0	0	0	0	10674	1145	40	4		4	NR2E3	15	72105883	RNA	SNP	G	TCGA-HC-A632-01A-11D-A29Q-08		72105883	30425509	38	9755											
TP53	7157	broad.mit.edu	37	chr17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgggcctccggttcatgcCgcccatgcaggaactgttac	7	9	12	13	2	1	0	1	0	0	0	2	2	2	1	4	3	4	3	4	3	2	2	rs28934575		TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr17:7577548C>T	ENST00000420246.2	-	7	865	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000269305.4_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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)		CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			27	32					0	0	1	0	0	T	7577548	C	T	7577548	3	4	206	1	0	0	0	0	1	0	0	0	16442	652	23	1	557	1	TP53	17	7577548	Missense_Mutation	SNP	C	TCGA-HC-A632-01A-11D-A29Q-08		7577548	73617662	39	9756											
COIL	8161	broad.mit.edu	37	chr17	55038183	55038183	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgcgctctcggcggggggCaagagccccccctccaggta	5	4	15	17	5	1	1	0	0	1	1	3	1	2	1	4	5	1	3	4	5	2	1			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr17:55038183C>G	ENST00000240316.4	-	1	232	c.198G>C	c.(196-198)ttG>ttC	p.L66F		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	66						Cajal body|nucleolus	protein C-terminus binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					CGGCGGGGGGCAAGAGCCCCC	0.697													7	10					0	0	1	0	0	G	55038183	C	G	55038183	3	3	206	1	0	0	0	0	1	0	0	0	3688	709	25	4	1560	4	COIL	17	55038183	Missense_Mutation	SNP	C	TCGA-HC-A632-01A-11D-A29Q-08	47460635	55038183	26157027	40	9757											
TBCD	6904	broad.mit.edu	37	chr17	80847559	80847559	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcaggccgccttccaggagAatgtggggagacaggtatgg	9	6	17	9	2	0	2	0	0	0	2	1	4	1	2	3	6	0	2	3	6	2	2			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr17:80847559A>G	ENST00000355528.4	+	16	1679	c.1549A>G	c.(1549-1551)Aat>Gat	p.N517D	TBCD_ENST00000539345.2_Missense_Mutation_p.N517D|TBCD_ENST00000397466.2_Missense_Mutation_p.N131D	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	517					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			CTTCCAGGAGAATGTGGGGAG	0.502													6	34					0	0	1	0	0	G	80847559	A	G	80847559	3	3	206	1	0	0	0	0	1	0	0	0	15693	246	9	3	1611	3	TBCD	17	80847559	Missense_Mutation	SNP	A	TCGA-HC-A632-01A-11D-A29Q-08	25809376	80847559	347651	41	9758											
CCDC11	220136	broad.mit.edu	37	chr18	47753887	47753887	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctgcttcaaactctcggCgtttctcttccttctctgct	4	16	5	16	2	4	0	1	0	3	0	8	0	5	0	2	1	3	3	2	1	1	4	rs147186159	by1000genomes	TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr18:47753887C>T	ENST00000398545.4	-	8	1526	c.1409G>A	c.(1408-1410)cGc>cAc	p.R470H		NM_145020.3	NP_659457.2	Q96M91	CCD11_HUMAN	coiled-coil domain containing 11	470										endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		AAACTCTCGGCGTTTCTCTTC	0.502													28	157					0	0	1	0	0	T	47753887	C	T	47753887	3	4	206	1	0	0	0	0	1	0	0	0	2764	768	27	1	139	1	CCDC11	18	47753887	Missense_Mutation	SNP	C	TCGA-HC-A632-01A-11D-A29Q-08		47753887	30323361	42	9759											
OPRL1	4987	broad.mit.edu	37	chr20	62730104	62730104	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcgcagcattgccaaggaCgtggccctggcctgcaagac	8	6	14	13	2	0	1	0	0	0	1	0	2	0	2	3	3	4	3	3	3	2	1			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr20:62730104C>T	ENST00000349451.3	+	6	1477	c.1065C>T	c.(1063-1065)gaC>gaT	p.D355D	OPRL1_ENST00000355631.4_Silent_p.D355D|OPRL1_ENST00000336866.2_Silent_p.D355D	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	355					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					TTGCCAAGGACGTGGCCCTGG	0.647													27	52					0	0	1	0	0	T	62730104	C	T	62730104	2	4	206	1	0	0	0	0	0	0	0	1	10934	535	19	1		1	OPRL1	20	62730104	Silent	SNP	C	TCGA-HC-A632-01A-11D-A29Q-08		62730104	295416	43	9760											
DNAJC28	54943	broad.mit.edu	37	chr21	34861298	34861298	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttcaaaacttaaataatGtcggtgttggggtgttttat	11	16	9	5	1	1	0	1	0	0	0	2	0	1	0	1	3	1	2	1	3	6	6			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr21:34861298G>A	ENST00000314399.3	-	2	841	c.403C>T	c.(403-405)Cat>Tat	p.H135Y	DNAJC28_ENST00000402202.1_Missense_Mutation_p.H135Y|DNAJC28_ENST00000381947.3_Missense_Mutation_p.H135Y	NM_017833.3	NP_060303.2	Q9NX36	DJC28_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 28	135							heat shock protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(5)|skin(1)|urinary_tract(1)	18						CTTAAATAATGTCGGTGTTGG	0.403													16	48					0	0	1	0	0	A	34861298	G	A	34861298	3	1	206	1	0	0	0	0	1	0	0	0	4673	1377	48	2	767	2	DNAJC28	21	34861298	Missense_Mutation	SNP	G	TCGA-HC-A632-01A-11D-A29Q-08		34861298	13268597	44	9761											
MYO18B	84700	broad.mit.edu	37	chr22	26294373	26294373	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaccttgaggatacctgcGtcctgctagagaaccaacaa	12	8	10	11	1	0	3	0	2	0	1	1	5	1	4	4	1	5	1	4	1	5	3			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr22:26294373G>A	ENST00000335473.7	+	29	5018	c.4768G>A	c.(4768-4770)Gtc>Atc	p.V1590I	CTA-125H2.2_ENST00000594856.1_RNA|CTA-125H2.2_ENST00000600269.1_RNA|MYO18B_ENST00000407587.2_Missense_Mutation_p.V1591I|CTA-125H2.2_ENST00000595102.1_RNA|CTA-125H2.2_ENST00000599080.1_RNA|CTA-125H2.2_ENST00000594542.1_RNA|MYO18B_ENST00000536101.1_Missense_Mutation_p.V1590I|CTA-125H2.2_ENST00000597284.1_RNA|CTA-125H2.2_ENST00000597548.1_RNA|CTA-125H2.2_ENST00000453457.2_RNA|CTA-125H2.2_ENST00000600903.1_RNA|CTA-125H2.2_ENST00000599792.1_RNA|CTA-125H2.2_ENST00000600211.1_RNA|CTA-125H2.2_ENST00000594585.1_RNA	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1590	Tail.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GGATACCTGCGTCCTGCTAGA	0.527													53	99					0	0	1	0	0	A	26294373	G	A	26294373	3	1	206	1	0	0	0	0	1	0	0	0	10114	1145	40	1	4878	1	MYO18B	22	26294373	Missense_Mutation	SNP	G	TCGA-HC-A632-01A-11D-A29Q-08		26294373	25010193	45	9762											
GGA1	26088	broad.mit.edu	37	chr22	38028487	38028487	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccatcgtccacccctcagcaAtcacccaggtcctgctgctt	7	9	6	19	1	2	0	2	0	0	0	5	0	4	0	6	1	3	3	6	1	1	1			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr22:38028487A>G	ENST00000406772.1	+	17	2207	c.1555A>G	c.(1555-1557)Atc>Gtc	p.I519V	GGA1_ENST00000337437.4_Missense_Mutation_p.I559V|GGA1_ENST00000343632.4_Missense_Mutation_p.I592V|GGA1_ENST00000325180.8_Missense_Mutation_p.I505V|GGA1_ENST00000381756.5_Missense_Mutation_p.I609V	NM_001172688.1	NP_001166159.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	592	GAE.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					CCCCTCAGCAATCACCCAGGT	0.637													16	162					0	0	1	0	0	G	38028487	A	G	38028487	3	3	206	1	0	0	0	0	1	0	0	0	6394	101	4	3	1902	3	GGA1	22	38028487	Missense_Mutation	SNP	A	TCGA-HC-A632-01A-11D-A29Q-08	11734114	38028487	13276079	46	9763											
XG	7499	broad.mit.edu	37	chrX	2726251	2726251	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcaccattcaacgtatggCaatccagaaggtaactgatt	14	10	8	9	1	2	2	2	1	0	1	3	3	3	2	2	2	2	3	2	2	5	4			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chrX:2726251C>T	ENST00000426774.1	+	8	625	c.402C>T	c.(400-402)ggC>ggT	p.G134G	XG_ENST00000419513.2_Silent_p.G148G|XG_ENST00000381174.5_Silent_p.G133G	NM_001141920.1|NM_175569.2	NP_001135392.1|NP_780778.1	P55808	XG_HUMAN	Xg blood group	133						integral to membrane|plasma membrane				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CAACGTATGGCAATCCAGAAG	0.493													3	22					0	0	1	0	0	T	2726251	C	T	2726251	2	4	206	1	0	0	0	0	0	0	0	1	17487	697	25	2		2	XG	23	2726251	Silent	SNP	C	TCGA-HC-A632-01A-11D-A29Q-08		2726251	152544309	47	9764											
DGKK	139189	broad.mit.edu	37	chrX	50113412	50113412	+	RNA	DEL	G	G	-																															ttcatgacccctctgcctgtGggggagacttaccaataaaa																										TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chrX:50113412delG	ENST00000376025.2	-	0	3795							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					CTCTGCCTGTGGGGGAGACTT	0.488													2	4	---	---	---	---						-	50113412	G	-	50113412	6	5	206	0	1	1	0	1	0	0	0	0	4500	1363	47	0		0	DGKK	23	50113412	RNA	DEL	G	TCGA-HC-A632-01A-11D-A29Q-08	47387161	50113412	105157148	48	9765											
YIPF6	286451	broad.mit.edu	37	chrX	67718941	67718941	+	Frame_Shift_Del	DEL	G	G	-																															gaggagtctccaggagacccGgggacagcatcgcccaggcc																										TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chrX:67718941delG	ENST00000462683.1	+	1	777	c.33delG	c.(31-33)ccfs	p.P11fs	YIPF6_ENST00000374622.2_Frame_Shift_Del_p.P11fs|YIPF6_ENST00000470730.1_3'UTR	NM_173834.3	NP_776195.2	Q96EC8	YIPF6_HUMAN	Yip1 domain family, member 6	11						endoplasmic reticulum|integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	7						CAGGAGACCCGGGGACAGCAT	0.667													2	4	---	---	---	---						-	67718941	G	-	67718941	7	5	206	1	0	1	0	1	0	0	0	0	17542	1103	39	0	35	0	YIPF6	23	67718941	Frame_Shift_Del	DEL	G	TCGA-HC-A632-01A-11D-A29Q-08	17605529	67718941	87551619	49	9766											
C1orf159	54991	broad.mit.edu	37	chr1	1019513	1019513	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacggggattaaaggggggCgggcagggggcgccggccaa	8	3	21	9	4	1	0	1	0	0	0	1	1	1	1	2	9	0	1	2	9	3	1			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr1:1019513C>T	ENST00000448924.1	-	10	1261	c.830G>A	c.(829-831)cGc>cAc	p.R277H	C1orf159_ENST00000379319.1_Intron|C1orf159_ENST00000482816.1_Intron|C1orf159_ENST00000421241.2_Intron|C1orf159_ENST00000379339.1_Missense_Mutation_p.R277H|C1orf159_ENST00000379320.1_Missense_Mutation_p.R241H|C1orf159_ENST00000294576.5_Missense_Mutation_p.R241H			Q96HA4	CA159_HUMAN	chromosome 1 open reading frame 159	277	Pro-rich.					integral to membrane						all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		TAAAGGGGGGCGGGCAGGGGG	0.657													7	51					0	0	1	0	0	T	1019513	C	T	1019513	3	4	207	1	0	0	0	0	1	0	0	0	2021	783	27	1		1	C1orf159	1	1019513	Missense_Mutation	SNP	C	TCGA-HC-A6AL-01A-11D-A30E-08		1019513	248231108	1	9767											
PTCHD2	57540	broad.mit.edu	37	chr1	11576180	11576180	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccttcttcacctccctgAccacagccgccgcctacgca	7	7	5	22	3	2	1	1	1	1	0	3	1	3	1	8	0	2	1	8	0	1	3			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr1:11576180A>G	ENST00000294484.6	+	6	1849	c.1711A>G	c.(1711-1713)Acc>Gcc	p.T571A	PTCHD2_ENST00000389575.3_Missense_Mutation_p.T571A	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	571	SSD.				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CACCTCCCTGACCACAGCCGC	0.622													17	74					0	0	1	0	0	G	11576180	A	G	11576180	3	3	207	1	0	0	0	0	1	0	0	0	12782	275	10	3	1729	3	PTCHD2	1	11576180	Missense_Mutation	SNP	A	TCGA-HC-A6AL-01A-11D-A30E-08	10556667	11576180	237674441	2	9768											
TIE1	7075	broad.mit.edu	37	chr1	43777678	43777678	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcccagtggaccccagtgaGaacgtgacgttaatgaacct	11	7	11	12	3	0	3	0	3	0	1	0	5	0	4	4	1	2	1	4	1	3	1			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr1:43777678G>T	ENST00000372476.3	+	11	1585	c.1506G>T	c.(1504-1506)gaG>gaT	p.E502D	TIE1_ENST00000433781.2_Missense_Mutation_p.E147D	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	502	Fibronectin type-III 1.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ACCCCAGTGAGAACGTGACGT	0.597													22	123					3.28513e-13	3.60901e-13	1	1	0	T	43777678	G	T	43777678	3	4	207	1	0	0	0	0	1	0	0	0	15953	933	33	4	1548	4	TIE1	1	43777678	Missense_Mutation	SNP	G	TCGA-HC-A6AL-01A-11D-A30E-08	32201498	43777678	205472943	3	9769											
ERO1LB	56605	broad.mit.edu	37	chr1	236399660	236399660	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtgtaacgctctgggttcaGcaataggtctacatactgag	11	11	11	8	1	3	1	1	1	2	0	3	1	3	1	0	2	4	4	0	2	5	5			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr1:236399660G>A	ENST00000354619.5	-	7	745	c.544C>T	c.(544-546)Ctg>Ttg	p.L182L	ERO1LB_ENST00000327333.8_3'UTR	NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)	182					electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding			NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			TCTGGGTTCAGCAATAGGTCT	0.418													29	131					0	0	1	0	0	A	236399660	G	A	236399660	2	1	207	1	0	0	0	0	0	0	0	1	5268	962	34	2		2	ERO1LB	1	236399660	Silent	SNP	G	TCGA-HC-A6AL-01A-11D-A30E-08	192621982	236399660	12850961	4	9770											
ZNF692	55657	broad.mit.edu	37	chr1	249150721	249150721	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccacatcctcacctgggcaaCctggcctcttgagtcctctc	6	10	7	18	0	3	1	1	1	2	0	6	1	5	1	6	2	1	1	6	2	1	1			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr1:249150721C>G	ENST00000451251.1	-	5	876	c.531G>C	c.(529-531)agG>agC	p.R177S	ZNF692_ENST00000468455.1_5'UTR|ZNF692_ENST00000306601.4_Missense_Mutation_p.R172S|ZNF692_ENST00000366471.3_Missense_Mutation_p.R172S|ZNF692_ENST00000427146.1_Missense_Mutation_p.R172S|ZNF692_ENST00000366469.5_Missense_Mutation_p.R172S	NM_001136036.2	NP_001129508.1	Q9BU19	ZN692_HUMAN	zinc finger protein 692	172					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			ACCTGGGCAACCTGGCCTCTT	0.527													9	77					0	0	1	0	0	G	249150721	C	G	249150721	3	3	207	1	0	0	0	0	1	0	0	0	18153	506	18	4	1075	4	ZNF692	1	249150721	Missense_Mutation	SNP	C	TCGA-HC-A6AL-01A-11D-A30E-08	12751061	249150721	99900	5	9771											
DPP10	57628	broad.mit.edu	37	chr2	116497321	116497321	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatttattctagaggaacTcctgcattctcacatcgccc	9	13	5	14	1	3	1	2	0	2	1	6	2	4	2	2	1	2	1	2	1	3	5			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr2:116497321T>C	ENST00000410059.1	+	9	1184	c.704T>C	c.(703-705)cTc>cCc	p.L235P	DPP10_ENST00000393147.2_Missense_Mutation_p.L239P|DPP10_ENST00000310323.8_Missense_Mutation_p.L228P|DPP10_ENST00000409163.1_Missense_Mutation_p.L185P|DPP10_ENST00000488208.1_3'UTR	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	235					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						CTAGAGGAACTCCTGCATTCT	0.458													35	76					0	0	1	0	0	C	116497321	T	C	116497321	3	2	207	1	0	0	0	0	1	0	0	0	4753	1551	54	3	909	3	DPP10	2	116497321	Missense_Mutation	SNP	T	TCGA-HC-A6AL-01A-11D-A30E-08		116497321	126702052	6	9772											
LRP1B	53353	broad.mit.edu	37	chr2	141215220	141215220	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggaatatcttgattagggActgtaataggagatggtaag	13	12	13	3	0	1	2	0	1	1	1	1	5	1	4	0	4	0	2	0	4	6	6			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr2:141215220A>G	ENST00000389484.3	-	61	10597	c.9625_splice	c.e61-1	p.V3209_splice		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3209					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTGATTAGGGACTGTAATAGG	0.398										TSP Lung(27;0.18)			10	116					0	0	1	0	0	G	141215220	A	G	141215220	5	3	207	1	0	0	0	0	0	0	1	0	9000	289	10	3	4297	3	LRP1B	2	141215220	Splice_Site	SNP	A	TCGA-HC-A6AL-01A-11D-A30E-08	24717899	141215220	101984153	7	9773											
SCN7A	6332	broad.mit.edu	37	chr2	167279862	167279862	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagcatttccagaatgaaGatataagtaaagatcatgtc	18	10	8	5	0	1	5	1	1	0	4	3	5	2	5	1	0	1	2	1	0	7	4			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr2:167279862G>T	ENST00000409855.1	-	18	3060	c.2934C>A	c.(2932-2934)atC>atA	p.I978I		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	978					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						CCAGAATGAAGATATAAGTAA	0.323													6	50					0.0215528	0.0218327	1	1	0	T	167279862	G	T	167279862	2	4	207	1	0	0	0	0	0	0	0	1	13977	932	33	4		4	SCN7A	2	167279862	Silent	SNP	G	TCGA-HC-A6AL-01A-11D-A30E-08	26064642	167279862	75919511	8	9774											
AMT	275	broad.mit.edu	37	chr3	49455030	49455030	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcttgctgactacagccatCtgctgcttccgccgcacctc	6	11	7	17	2	2	1	0	1	2	0	4	1	3	1	4	0	5	4	4	0	1	3			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr3:49455030C>G	ENST00000273588.3	-	9	1457	c.1155G>C	c.(1153-1155)caG>caC	p.Q385H	AMT_ENST00000395338.2_Intron|AMT_ENST00000476226.1_5'UTR|AMT_ENST00000458307.2_Missense_Mutation_p.Q341H|AMT_ENST00000538581.1_Missense_Mutation_p.Q329H|AMT_ENST00000546031.1_Missense_Mutation_p.Q288H	NM_000481.3	NP_000472.2	P48728	GCST_HUMAN	aminomethyltransferase	385					glycine catabolic process	mitochondrion	aminomethyltransferase activity|transaminase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	CTACAGCCATCTGCTGCTTCC	0.572													32	137					0	0	1	0	0	G	49455030	C	G	49455030	3	3	207	1	0	0	0	0	1	0	0	0	585	912	32	4	88	4	AMT	3	49455030	Missense_Mutation	SNP	C	TCGA-HC-A6AL-01A-11D-A30E-08		49455030	148567400	9	9775											
MYLK	4638	broad.mit.edu	37	chr3	123419194	123419194	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggtctcggcaggcttggCgttgcccattggcttcaggg	4	10	16	11	2	2	0	1	0	1	0	3	0	2	0	1	6	1	4	1	6	0	4			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr3:123419194C>T	ENST00000360772.3	-	19	3499	c.3121G>A	c.(3121-3123)Gcc>Acc	p.A1041T	MYLK_ENST00000475616.1_Missense_Mutation_p.A1041T|MYLK_ENST00000360304.3_Missense_Mutation_p.A1041T|MYLK_ENST00000359169.1_Missense_Mutation_p.A1041T|MYLK_ENST00000346322.5_Missense_Mutation_p.A972T			Q15746	MYLK_HUMAN	myosin light chain kinase	1041	6 X 12 AA approximate tandem repeats.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GCAGGCTTGGCGTTGCCCATT	0.552													5	310					0	0	1	0	0	T	123419194	C	T	123419194	3	4	207	1	0	0	0	0	1	0	0	0	10104	768	27	1	2691	1	MYLK	3	123419194	Missense_Mutation	SNP	C	TCGA-HC-A6AL-01A-11D-A30E-08	73964164	123419194	74603236	10	9776											
COPB2	9276	broad.mit.edu	37	chr3	139077851	139077851	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gccactcaccgtgacaagtgGgtattgtttggctggccaca	8	10	12	11	1	1	1	1	1	0	0	1	1	1	1	3	3	0	3	3	3	2	3			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr3:139077851G>A	ENST00000333188.5	-	19	2654	c.2473C>T	c.(2473-2475)Cca>Tca	p.P825S	COPB2_ENST00000507777.1_Missense_Mutation_p.P796S	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	825					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						GTGACAAGTGGGTATTGTTTG	0.428													11	117					0	0	1	0	0	A	139077851	G	A	139077851	3	1	207	1	0	0	0	0	1	0	0	0	3752	1232	43	2	263	2	COPB2	3	139077851	Missense_Mutation	SNP	G	TCGA-HC-A6AL-01A-11D-A30E-08	15658657	139077851	58944579	11	9777											
RTP1	132112	broad.mit.edu	37	chr3	186917771	186917771	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagacgggctcaggctggaaCttctgctctatcccctggtg	6	10	12	13	1	3	1	1	0	2	1	4	2	4	2	2	4	2	3	2	4	2	2			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr3:186917771C>A	ENST00000312295.4	+	2	735	c.705C>A	c.(703-705)aaC>aaA	p.N235K	RP11-208N14.4_ENST00000356133.3_RNA	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	receptor (chemosensory) transporter protein 1	235					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		CAGGCTGGAACTTCTGCTCTA	0.602													35	71					2.09667e-21	2.33628e-21	1	1	0	A	186917771	C	A	186917771	3	1	207	1	0	0	0	0	1	0	0	0	13785	564	20	4	711	4	RTP1	3	186917771	Missense_Mutation	SNP	C	TCGA-HC-A6AL-01A-11D-A30E-08	47839920	186917771	11104659	12	9778											
MUC4	4585	broad.mit.edu	37	chr3	195507220	195507220	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagtgctggtgacaggaagaGgggtgacgtgacctgtggat	10	8	18	5	1	0	4	0	3	0	1	0	6	0	6	1	5	1	1	1	5	2	0	rs74208457		TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr3:195507220G>A	ENST00000463781.3	-	2	11690	c.11231C>T	c.(11230-11232)cCt>cTt	p.P3744L	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.P3744L|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	536					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GACAGGAAGAGGGGTGACGTG	0.582													3	6					0	0	1	0	0	A	195507220	G	A	195507220	3	1	207	1	0	0	0	0	1	0	0	0	10026	1000	35	2		2	MUC4	3	195507220	Missense_Mutation	SNP	G	TCGA-HC-A6AL-01A-11D-A30E-08	8589449	195507220	2515210	13	9779											
CCKAR	886	broad.mit.edu	37	chr4	26484871	26484871	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	caccatcatcacaattccagGaataagaaagaggatgagta	18	7	8	8	0	2	3	2	1	0	2	3	5	3	5	2	2	0	1	2	2	5	3			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr4:26484871G>C	ENST00000295589.3	-	4	855	c.661C>G	c.(661-663)Cct>Gct	p.P221A		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	221					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	ACAATTCCAGGAATAAGAAAG	0.378													20	115					0	0	1	0	0	C	26484871	G	C	26484871	3	2	207	1	0	0	0	0	1	0	0	0	2900	1174	41	4	633	4	CCKAR	4	26484871	Missense_Mutation	SNP	G	TCGA-HC-A6AL-01A-11D-A30E-08		26484871	164669405	14	9780											
UGDH	7358	broad.mit.edu	37	chr4	39506062	39506062	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acatgtcccactcagtgcaaAtaacaacagcatgggcacca	15	6	7	13	0	1	0	1	0	0	0	2	0	2	0	2	1	4	3	2	1	3	1			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr4:39506062A>G	ENST00000316423.6	-	10	1580	c.1238T>C	c.(1237-1239)aTt>aCt	p.I413T	UGDH_ENST00000506179.1_Missense_Mutation_p.I413T|UGDH_ENST00000507089.1_Missense_Mutation_p.I316T|UGDH_ENST00000501493.2_Missense_Mutation_p.I346T	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	413					glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity			breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27					NADH(DB00157)	CTCAGTGCAAATAACAACAGC	0.408													3	28					0	0	1	0	0	G	39506062	A	G	39506062	3	3	207	1	0	0	0	0	1	0	0	0	17000	101	4	3	258	3	UGDH	4	39506062	Missense_Mutation	SNP	A	TCGA-HC-A6AL-01A-11D-A30E-08	13021191	39506062	151648214	15	9781											
FAT4	79633	broad.mit.edu	37	chr4	126336325	126336325	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acacctattgatactgttgtTttcaaagctcaagcaactga	13	13	6	9	0	2	2	2	2	0	0	2	2	2	2	1	0	4	4	1	0	5	6			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr4:126336325T>C	ENST00000394329.3	+	5	6220	c.6207T>C	c.(6205-6207)gtT>gtC	p.V2069V	FAT4_ENST00000335110.5_Silent_p.V367V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2069	Cadherin 20.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATACTGTTGTTTTCAAAGCTC	0.393													4	237					0	0	1	0	0	C	126336325	T	C	126336325	2	2	207	1	0	0	0	0	0	0	0	1	5725	1828	64	3		3	FAT4	4	126336325	Silent	SNP	T	TCGA-HC-A6AL-01A-11D-A30E-08	86830263	126336325	64817951	16	9782											
PCDHA6	0	broad.mit.edu	37	chr5	140209185	140209185	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggcgggtgggcgagcgcgcGttgtcgagctacatttcggt	4	9	18	10	8	0	0	0	0	0	0	2	2	0	0	0	4	3	2	0	4	1	3			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr5:140209185G>A	ENST00000529310.1	+	1	1623	c.1509G>A	c.(1507-1509)gcG>gcA	p.A503A	PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Silent_p.A503A|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGAGCGCGCGTTGTCGAGCT	0.672													24	125					0	0	1	0	0	A	140209185	G	A	140209185	2	1	207	1	0	0	0	0	0	0	0	1	11575	1132	40	1		1	PCDHA6	5	140209185	Silent	SNP	G	TCGA-HC-A6AL-01A-11D-A30E-08		140209185	40706075	17	9783											
VPS41	27072	broad.mit.edu	37	chr7	38807200	38807200	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatatgccaagccaatatccTagagaaagccaaatgaagaa	19	7	7	8	0	0	3	0	1	0	2	1	4	1	3	4	0	3	0	4	0	10	4			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr7:38807200T>C	ENST00000310301.4	-	15	1240		c.e15-2		VPS41_ENST00000395969.2_Splice_Site	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)						Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						GCCAATATCCTAGAGAAAGCC	0.368													9	58					0	0	1	0	0	C	38807200	T	C	38807200	5	2	207	1	0	0	0	0	0	0	1	0	17270	1536	53	3	1440	3	VPS41	7	38807200	Splice_Site	SNP	T	TCGA-HC-A6AL-01A-11D-A30E-08		38807200	120331463	18	9784											
POM121	9883	broad.mit.edu	37	chr7	72400574	72400574	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgagctccttgacaggcgcTtacgcaagtggcatccctag	9	9	11	12	2	0	2	0	2	0	0	2	2	2	2	2	2	2	4	2	2	3	3			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr7:72400574T>G	ENST00000395270.1	+	8	1446	c.405T>G	c.(403-405)gcT>gcG	p.A135A	POM121_ENST00000358357.3_Silent_p.A135A|POM121_ENST00000446813.1_Silent_p.A135A|POM121_ENST00000257622.4_Silent_p.A135A|POM121_ENST00000434423.2_Silent_p.A400A	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	400	Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				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)				TGACAGGCGCTTACGCAAGTG	0.512													68	237					0	0	1	0	0	G	72400574	T	G	72400574	2	3	207	1	0	0	0	0	0	0	0	1	12287	1596	56	5		5	POM121	7	72400574	Silent	SNP	T	TCGA-HC-A6AL-01A-11D-A30E-08	33593374	72400574	86738089	19	9785											
SAMD9L	219285	broad.mit.edu	37	chr7	92763568	92763568	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acacaacatattttccattcCtttgagagcttgatagaaag	14	13	6	8	0	0	3	0	2	0	2	2	4	2	3	2	0	2	1	2	0	4	7			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr7:92763568C>T	ENST00000318238.4	-	5	2933	c.1717G>A	c.(1717-1719)Gga>Aga	p.G573R	SAMD9L_ENST00000437805.1_Missense_Mutation_p.G573R|SAMD9L_ENST00000411955.1_Missense_Mutation_p.G573R	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	573										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TTTTCCATTCCTTTGAGAGCT	0.353													17	51					0	0	1	0	0	T	92763568	C	T	92763568	3	4	207	1	0	0	0	0	1	0	0	0	13879	690	24	2	3041	2	SAMD9L	7	92763568	Missense_Mutation	SNP	C	TCGA-HC-A6AL-01A-11D-A30E-08	20362994	92763568	66375095	20	9786											
LMTK2	22853	broad.mit.edu	37	chr7	97784178	97784178	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atacttttttgaaaaatggaGaaccttactagtaagtaaac	17	13	6	5	0	0	2	0	1	0	1	0	3	0	2	1	1	4	2	1	1	9	8			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr7:97784178G>A	ENST00000297293.5	+	5	852	c.559G>A	c.(559-561)Gaa>Aaa	p.E187K		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	187	Protein kinase.				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					GAAAAATGGAGAACCTTACTA	0.418													19	162					0	0	1	0	0	A	97784178	G	A	97784178	3	1	207	1	0	0	0	0	1	0	0	0	8900	943	33	2	577	2	LMTK2	7	97784178	Missense_Mutation	SNP	G	TCGA-HC-A6AL-01A-11D-A30E-08	5020610	97784178	61354485	21	9787											
KRBA1	84626	broad.mit.edu	37	chr7	149430771	149430771	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccagagggaccgctcgcCgggcacgtccgctgcctcca	5	6	12	18	5	1	1	0	0	1	1	5	2	3	2	6	2	1	3	6	2	0	0			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr7:149430771C>T	ENST00000255992.10	+	18	3124	c.2725C>T	c.(2725-2727)Cgg>Tgg	p.R909W	KRBA1_ENST00000319551.8_Missense_Mutation_p.R849W|KRBA1_ENST00000485033.2_Missense_Mutation_p.R849W|KRBA1_ENST00000479560.1_3'UTR	NM_032534.2	NP_115923.2	A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	910										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GACCGCTCGCCGGGCACGTCC	0.662													3	7					0	0	1	0	0	T	149430771	C	T	149430771	3	4	207	1	0	0	0	0	1	0	0	0	8482	643	23	1	2789	1	KRBA1	7	149430771	Missense_Mutation	SNP	C	TCGA-HC-A6AL-01A-11D-A30E-08	51646593	149430771	9707892	22	9788											
PLAA	9373	broad.mit.edu	37	chr9	26905927	26905927	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaagtcctgagagcaagcAgctggtttgctggctttcct	10	11	11	9	0	0	1	0	1	0	1	2	2	2	1	2	2	4	6	2	2	3	2			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr9:26905927A>G	ENST00000397292.3	-	14	2387	c.1970T>C	c.(1969-1971)cTg>cCg	p.L657P		NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	657	PUL.				phospholipid metabolic process|signal transduction		phospholipase A2 activator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		GAGAGCAAGCAGCTGGTTTGC	0.458													27	56					0	0	1	0	0	G	26905927	A	G	26905927	3	3	207	1	0	0	0	0	1	0	0	0	12059	188	7	3	421	3	PLAA	9	26905927	Missense_Mutation	SNP	A	TCGA-HC-A6AL-01A-11D-A30E-08		26905927	114307504	23	9789											
IPPK	64768	broad.mit.edu	37	chr9	95403027	95403027	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttgttctgtgcctcctgcaGcaaactcttcaaggcaaagt	9	12	9	11	0	3	0	1	0	2	0	4	0	4	0	2	1	4	5	2	1	3	3			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr9:95403027G>A	ENST00000287996.3	-	8	877	c.601C>T	c.(601-603)Ctg>Ttg	p.L201L		NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	201					inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						GCCTCCTGCAGCAAACTCTTC	0.448													4	128					0	0	1	0	0	A	95403027	G	A	95403027	2	1	207	1	0	0	0	0	0	0	0	1	7845	962	34	2		2	IPPK	9	95403027	Silent	SNP	G	TCGA-HC-A6AL-01A-11D-A30E-08	68497100	95403027	45810404	24	9790											
PTEN	5728	broad.mit.edu	37	chr10	89692968	89692968	+	Frame_Shift_Del	DEL	C	C	-																															atttttaaaggcacaagaggCcctagatttctatggggaag																										TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr10:89692968delC	ENST00000371953.3	+	5	1809	c.452delC	c.(451-453)gcfs	p.A151fs		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	151	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.A151D(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GCACAAGAGGCCCTAGATTTC	0.378		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			11	75	---	---	---	---						-	89692968	C	-	89692968	7	5	207	1	0	1	0	1	0	0	0	0	12787	739	26	0	470	0	PTEN	10	89692968	Frame_Shift_Del	DEL	C	TCGA-HC-A6AL-01A-11D-A30E-08		89692968	45841779	25	9791											
OR4C6	219432	broad.mit.edu	37	chr11	55433371	55433371	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctgcagctcccacctcacGgtggttgtattgttctttgt	5	15	9	12	1	2	0	1	0	1	0	3	0	3	0	3	2	2	5	3	2	1	5			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr11:55433371G>T	ENST00000314259.3	+	1	758	c.729G>T	c.(727-729)acG>acT	p.T243T		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						CCCACCTCACGGTGGTTGTAT	0.493													71	111					1.63007e-36	1.86979e-36	1	1	0	T	55433371	G	T	55433371	2	4	207	1	0	0	0	0	0	0	0	1	11100	1103	39	4		4	OR4C6	11	55433371	Silent	SNP	G	TCGA-HC-A6AL-01A-11D-A30E-08		55433371	79573145	26	9792											
MTL5	9633	broad.mit.edu	37	chr11	68480780	68480780	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcaggcagcctgacctcctGcagttgcaccctttgttgtg	5	13	10	13	0	1	1	1	1	0	0	2	1	2	1	4	1	3	5	4	1	0	4			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr11:68480780G>T	ENST00000255087.5	-	8	1299	c.1116C>A	c.(1114-1116)tgC>tgA	p.C372*		NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	372	CXC 2.				cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding	p.C372*(1)		breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			CTGACCTCCTGCAGTTGCACC	0.478													82	196					3.14276e-30	3.55269e-30	1	1	0	T	68480780	G	T	68480780	4	4	207	1	0	0	0	0	0	1	0	0	9984	1311	46	4	422	4	MTL5	11	68480780	Nonsense_Mutation	SNP	G	TCGA-HC-A6AL-01A-11D-A30E-08	13047409	68480780	66525736	27	9793											
BUD13	84811	broad.mit.edu	37	chr11	116633428	116633428	+	Frame_Shift_Del	DEL	T	T	-																															agaagtcttgctagaggctcTttctggggctttaccacttt																										TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr11:116633428delT	ENST00000260210.4	-	4	900	c.877delA	c.(877-879)gafs	p.R293fs	BUD13_ENST00000375445.3_Intron	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	293										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		CTAGAGGCTCTTTCTGGGGCT	0.493													8	210	---	---	---	---						-	116633428	T	-	116633428	7	5	207	1	0	1	0	1	0	0	0	0	1576	1617	56	0	1010	0	BUD13	11	116633428	Frame_Shift_Del	DEL	T	TCGA-HC-A6AL-01A-11D-A30E-08	48152648	116633428	18373088	28	9794											
ZNF641	121274	broad.mit.edu	37	chr12	48741844	48741844	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttcattgattcccatcctgtCcccagcgctgctgtctgttc	4	15	7	15	1	2	1	1	1	1	0	6	1	5	1	4	0	2	3	4	0	0	4			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr12:48741844C>T	ENST00000544117.2	-	2	780	c.72G>A	c.(70-72)ggG>ggA	p.G24G	ZNF641_ENST00000448928.3_Silent_p.G10G|ZNF641_ENST00000301042.3_Silent_p.G24G|ZNF641_ENST00000547026.1_Silent_p.G10G			Q96N77	ZN641_HUMAN	zinc finger protein 641	24					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						CCCATCCTGTCCCCAGCGCTG	0.517													31	62					0	0	1	0	0	T	48741844	C	T	48741844	2	4	207	1	0	0	0	0	0	0	0	1	18114	842	30	2		2	ZNF641	12	48741844	Silent	SNP	C	TCGA-HC-A6AL-01A-11D-A30E-08		48741844	85110051	29	9795											
ZNF140	7699	broad.mit.edu	37	chr12	133683237	133683237	+	Nonstop_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccttactgaacaccagtgAatttacactgcaaagaaaaa	17	10	5	9	0	0	3	0	2	0	1	1	3	1	3	2	0	4	1	2	0	7	4			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr12:133683237A>C	ENST00000355557.2	+	5	2657	c.1374A>C	c.(1372-1374)tgA>tgC	p.*458C	ZNF140_ENST00000544426.1_Nonstop_Mutation_p.*355C|ZNF140_ENST00000440550.2_3'UTR	NM_003440.2	NP_003431.2	P52738	ZN140_HUMAN	zinc finger protein 140	0						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.114)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		AACACCAGTGAATTTACACTG	0.343													16	36					0	0	1	0	0	C	133683237	A	C	133683237	4	2	207	1	0	0	0	0	0	0	0	0	17787	259	9	5	1388	5	ZNF140	12	133683237	Nonstop_Mutation	SNP	A	TCGA-HC-A6AL-01A-11D-A30E-08	84941393	133683237	168658	30	9796											
FLT1	2321	broad.mit.edu	37	chr13	28919630	28919630	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aataggagccagaagagagtCgcagccacacaggtgcatgt	14	5	13	9	1	0	2	0	0	0	2	1	4	0	3	2	2	3	2	2	2	3	1	rs142392658		TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr13:28919630C>T	ENST00000282397.4	-	16	2558	c.2307G>A	c.(2305-2307)gcG>gcA	p.A769A	FLT1_ENST00000540678.1_5'UTR	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	769					cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	AGAAGAGAGTCGCAGCCACAC	0.398													8	18					0	0	1	0	0	T	28919630	C	T	28919630	2	4	207	1	0	0	0	0	0	0	0	1	5974	871	31	1		1	FLT1	13	28919630	Silent	SNP	C	TCGA-HC-A6AL-01A-11D-A30E-08		28919630	86250248	31	9797											
RBM23	0	broad.mit.edu	37	chr14	23374621	23374621	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actgcatacagaaaactgtgCgggcatcacgctcctcagga	12	7	10	12	2	2	1	2	0	0	1	3	2	3	2	1	2	4	3	1	2	3	1			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr14:23374621C>T	ENST00000359890.3	-	7	692	c.497G>A	c.(496-498)cGc>cAc	p.R166H	RBM23_ENST00000346528.5_Missense_Mutation_p.R132H|RBM23_ENST00000542016.2_5'UTR|RBM23_ENST00000399922.2_Missense_Mutation_p.R150H|RBM23_ENST00000555209.1_5'UTR	NM_001077351.1	NP_001070819.1	Q86U06	RBM23_HUMAN	RNA binding motif protein 23	166	RRM 1.				mRNA processing	nucleus	nucleotide binding|RNA binding			endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		GAAAACTGTGCGGGCATCACG	0.507													4	152					0	0	1	0	0	T	23374621	C	T	23374621	3	4	207	1	0	0	0	0	1	0	0	0	13175	768	27	1	854	1	RBM23	14	23374621	Missense_Mutation	SNP	C	TCGA-HC-A6AL-01A-11D-A30E-08		23374621	83974919	32	9798											
PRKD1	5587	broad.mit.edu	37	chr14	30132963	30132963	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagatgatgtgcggatggtgCtgaccccagtgagggaaacg	10	7	16	8	2	0	4	0	3	0	1	0	6	0	6	2	3	3	1	2	3	1	0			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr14:30132963C>G	ENST00000331968.5	-	4	867	c.638G>C	c.(637-639)aGc>aCc	p.S213T	PRKD1_ENST00000415220.2_Missense_Mutation_p.S213T	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	213					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		GCGGATGGTGCTGACCCCAGT	0.488													26	185					0	0	1	0	0	G	30132963	C	G	30132963	3	3	207	1	0	0	0	0	1	0	0	0	12570	797	28	4	2160	4	PRKD1	14	30132963	Missense_Mutation	SNP	C	TCGA-HC-A6AL-01A-11D-A30E-08	6758342	30132963	77216577	33	9799											
PLEKHG3	26030	broad.mit.edu	37	chr14	65194559	65194559	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aactccagcagctggttgaaCgtgaaggggcccctctcccc	8	7	11	15	1	1	2	0	2	1	0	3	2	2	2	5	3	4	3	5	3	3	1			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr14:65194559C>T	ENST00000247226.7	+	2	518	c.210C>T	c.(208-210)aaC>aaT	p.N70N	PLEKHG3_ENST00000394691.1_Silent_p.N70N	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	70					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GCTGGTTGAACGTGAAGGGGC	0.652													7	39					0	0	1	0	0	T	65194559	C	T	65194559	2	4	207	1	0	0	0	0	0	0	0	1	12118	535	19	1		1	PLEKHG3	14	65194559	Silent	SNP	C	TCGA-HC-A6AL-01A-11D-A30E-08	35061596	65194559	42154981	34	9800											
ADAM21	8747	broad.mit.edu	37	chr14	70924676	70924676	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccatcaggcactctgccacaTttgaacacctggtttataag	11	11	7	12	0	2	1	1	1	1	0	2	1	2	1	3	2	2	2	3	2	3	4			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr14:70924676T>C	ENST00000603540.1	+	2	718	c.460T>C	c.(460-462)Ttt>Ctt	p.F154L	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Missense_Mutation_p.F154L	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	154					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CTCTGCCACATTTGAACACCT	0.423													19	83					0	0	1	0	0	C	70924676	T	C	70924676	3	2	207	1	0	0	0	0	1	0	0	0	242	1493	52	3	462	3	ADAM21	14	70924676	Missense_Mutation	SNP	T	TCGA-HC-A6AL-01A-11D-A30E-08	5730117	70924676	36424864	35	9801											
SNX29	92017	broad.mit.edu	37	chr16	12293501	12293501	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aactgaagaaatatgtaggaGctgtccagatgctgaaaaga	17	8	11	5	0	0	5	0	2	0	3	1	6	1	6	1	1	3	3	1	1	7	2			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr16:12293501G>T	ENST00000566228.1	+	14	1708	c.1639G>T	c.(1639-1641)Gct>Tct	p.A547S	SNX29_ENST00000306030.3_Missense_Mutation_p.A162S|SNX29_ENST00000323433.4_Missense_Mutation_p.A162S	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	162					cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						ATATGTAGGAGCTGTCCAGAT	0.463											OREG0006853	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=LOC92017|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	3	39					1	1	1	1	0	T	12293501	G	T	12293501	3	4	207	1	0	0	0	0	1	0	0	0	14952	971	34	4	506	4	SNX29	16	12293501	Missense_Mutation	SNP	G	TCGA-HC-A6AL-01A-11D-A30E-08		12293501	78061252	36	9802											
CES1	1066	broad.mit.edu	37	chr16	55846952	55846952	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagtgcccagaaggggttGactctggggagagagcagtg	10	6	17	8	0	1	3	0	1	1	2	1	5	1	4	1	4	2	2	1	4	1	1			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr16:55846952G>T	ENST00000422046.2	-	9	1227	c.946C>A	c.(946-948)Caa>Aaa	p.Q316K	CES1_ENST00000361503.4_Missense_Mutation_p.Q316K|CES1_ENST00000360526.3_Missense_Mutation_p.Q317K			P23141	EST1_HUMAN	carboxylesterase 1	316					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	AGAAGGGGTTGACTCTGGGGA	0.547													18	98					4.96729e-08	5.30752e-08	1	1	0	T	55846952	G	T	55846952	3	4	207	1	0	0	0	0	1	0	0	0	3291	1299	45	4	781	4	CES1	16	55846952	Missense_Mutation	SNP	G	TCGA-HC-A6AL-01A-11D-A30E-08	43553451	55846952	34507801	37	9803											
OR3A3	8392	broad.mit.edu	37	chr17	3324770	3324770	+	Silent	SNP	T	T	C																															cttatctacagcctcagaaaTactgatgttcagggcgctct																										TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr17:3324770T>C	ENST00000291231.1	+	1	909	c.909T>C	c.(907-909)aaT>aaC	p.N303N		NM_012373.2	NP_036505.2	P47888	OR3A3_HUMAN	olfactory receptor, family 3, subfamily A, member 3	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						GCCTCAGAAATACTGATGTTC	0.498													25	81					0	0	1	0	0	C	3324770	T	C	3324770	2	2	207	1	0	0	0	0	0	0	0	1	11087	1403	49	3		3	OR3A3	17	3324770	Silent	SNP	T	TCGA-HC-A6AL-01A-11D-A30E-08		3324770	77870440	38	9804	51	2									
OR3A3	8392	broad.mit.edu	37	chr17	3324771	3324771	+	Missense_Mutation	SNP	A	A	C																															ttatctacagcctcagaaatActgatgttcagggcgctctg																										TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr17:3324771A>C	ENST00000291231.1	+	1	910	c.910A>C	c.(910-912)Act>Cct	p.T304P		NM_012373.2	NP_036505.2	P47888	OR3A3_HUMAN	olfactory receptor, family 3, subfamily A, member 3	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						CCTCAGAAATACTGATGTTCA	0.498													24	82					0	0	1	0	0	C	3324771	A	C	3324771	3	2	207	1	0	0	0	0	1	0	0	0	11087	391	14	5	912	5	OR3A3	17	3324771	Missense_Mutation	SNP	A	TCGA-HC-A6AL-01A-11D-A30E-08	1	3324771	77870439	39	9805	51	2									
GRIN2C	2905	broad.mit.edu	37	chr17	72846785	72846785	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggctctccacgatgacaaagGgccgctcttccagcgtggcc	7	7	12	15	3	2	1	0	1	2	0	4	2	3	1	4	3	1	2	4	3	1	1			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr17:72846785G>A	ENST00000293190.5	-	5	1381	c.1235C>T	c.(1234-1236)cCc>cTc	p.P412L	GRIN2C_ENST00000347612.4_Missense_Mutation_p.P412L	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	412					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	GATGACAAAGGGCCGCTCTTC	0.632													8	94					0	0	1	0	0	A	72846785	G	A	72846785	3	1	207	1	0	0	0	0	1	0	0	0	6822	1232	43	2	2502	2	GRIN2C	17	72846785	Missense_Mutation	SNP	G	TCGA-HC-A6AL-01A-11D-A30E-08	69522014	72846785	8348425	40	9806											
NOTUM	147111	broad.mit.edu	37	chr17	79914844	79914844	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atactgcttgttgtccaggaAccagccggagtcagccaggc	9	8	12	12	1	1	0	1	0	0	0	2	2	2	2	4	3	5	2	4	3	2	3			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr17:79914844A>G	ENST00000409678.3	-	7	1185	c.802T>C	c.(802-804)Ttc>Ctc	p.F268L		NM_178493.5	NP_848588.3	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog (Drosophila)	268						extracellular region	hydrolase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			TTGTCCAGGAACCAGCCGGAG	0.667													11	36					0	0	1	0	0	G	79914844	A	G	79914844	3	3	207	1	0	0	0	0	1	0	0	0	10599	43	2	3	708	3	NOTUM	17	79914844	Missense_Mutation	SNP	A	TCGA-HC-A6AL-01A-11D-A30E-08	7068059	79914844	1280366	41	9807											
EMR3	84658	broad.mit.edu	37	chr19	14774336	14774336	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acacaggaagcatttgggggGcacttagcacaggaagctgc	12	6	14	9	0	0	0	0	0	0	0	0	2	0	2	0	5	4	4	0	5	3	2			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr19:14774336G>A	ENST00000253673.5	-	3	193	c.93C>T	c.(91-93)tgC>tgT	p.C31C	EMR3_ENST00000344373.4_Silent_p.C31C|EMR3_ENST00000599900.1_5'UTR|EMR3_ENST00000443157.2_Silent_p.C31C	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	31	EGF-like 1.				neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						CATTTGGGGGGCACTTAGCAC	0.488													20	46					0	0	1	0	0	A	14774336	G	A	14774336	2	1	207	1	0	0	0	0	0	0	0	1	5134	1195	42	2		2	EMR3	19	14774336	Silent	SNP	G	TCGA-HC-A6AL-01A-11D-A30E-08		14774336	44354647	42	9808											
PLVAP	83483	broad.mit.edu	37	chr19	17487978	17487978	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	atgaagagcacgagccccagGatgatgaggaattggatgag	14	6	15	6	1	0	5	0	4	0	1	0	9	0	8	2	3	2	1	2	3	2	1			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr19:17487978G>C	ENST00000252590.4	-	1	181	c.120C>G	c.(118-120)atC>atG	p.I40M		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	40						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CGAGCCCCAGGATGATGAGGA	0.617													33	75					0	0	1	0	0	C	17487978	G	C	17487978	3	2	207	1	0	0	0	0	1	0	0	0	12164	1164	41	4	1232	4	PLVAP	19	17487978	Missense_Mutation	SNP	G	TCGA-HC-A6AL-01A-11D-A30E-08	2713642	17487978	41641005	43	9809											
SBSN	374897	broad.mit.edu	37	chr19	36015769	36015769	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccgcgcttaccccagaggCtaacggcgtggttgtggccc	5	8	14	14	4	0	1	0	0	0	1	1	1	1	1	4	4	2	3	4	4	2	3			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr19:36015769C>T	ENST00000452271.2	-	2	1724	c.1696G>A	c.(1696-1698)Gcc>Acc	p.A566T	SBSN_ENST00000518157.1_Missense_Mutation_p.A223T	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	223						extracellular region				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			ACCCCAGAGGCTAACGGCGTG	0.602													5	29					0	0	1	0	0	T	36015769	C	T	36015769	3	4	207	1	0	0	0	0	1	0	0	0	13917	797	28	2	88	2	SBSN	19	36015769	Missense_Mutation	SNP	C	TCGA-HC-A6AL-01A-11D-A30E-08	18527791	36015769	23113214	44	9810											
GRWD1	83743	broad.mit.edu	37	chr19	48949711	48949712	+	Frame_Shift_Ins	INS	-	-	ACTTT																															cggacagagcttcctcttacINSactttacttgtgtgctggga																										TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr19:48949711_48949712insACTTT	ENST00000253237.5	+	2	490_491	c.257_258insACTTT	c.(256-258)actfs	p.T86fs		NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	86						nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		CTTCCTCTTACACTTTACTTGT	0.579													16	85	---	---	---	---						ACTTT	48949712	-	ACTTT	48949711	7	5	207	1	0	1	1	0	0	0	0	0	6852	478	17	0	263	0	GRWD1	19	48949711	Frame_Shift_Ins	INS	-	TCGA-HC-A6AL-01A-11D-A30E-08	12933942	48949711	10179272	45	9811											
CNOT3	4849	broad.mit.edu	37	chr19	54646887	54646887	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgcctcaagaaggtgtccGagggcgtggagcagtttgaa	9	8	16	8	2	1	2	1	1	0	1	2	4	2	3	2	3	2	3	2	3	3	1			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr19:54646887G>A	ENST00000406403.1	+	2	1661	c.58G>A	c.(58-60)Gag>Aag	p.E20K	CNOT3_ENST00000221232.5_Missense_Mutation_p.E20K|CNOT3_ENST00000358389.3_5'UTR			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	20					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	p.E20K(6)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GAAGGTGTCCGAGGGCGTGGA	0.557													89	198					0	0	1	0	0	A	54646887	G	A	54646887	3	1	207	1	0	0	0	0	1	0	0	0	3643	1059	37	1	64	1	CNOT3	19	54646887	Missense_Mutation	SNP	G	TCGA-HC-A6AL-01A-11D-A30E-08	5697176	54646887	4482096	46	9812											
PES1	23481	broad.mit.edu	37	chr22	30976074	30976074	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtctgctgcccaggccggtCgacaatctgatgggtgatgc	6	9	15	11	2	2	2	0	2	2	0	3	3	2	2	2	4	3	1	2	4	1	0			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr22:30976074C>T	ENST00000402281.1	-	13	1709	c.718G>A	c.(718-720)Gac>Aac	p.D240N	PES1_ENST00000335214.6_Missense_Mutation_p.D374N|PES1_ENST00000405677.1_Missense_Mutation_p.D240N|PES1_ENST00000354694.6_Missense_Mutation_p.D379N|PES1_ENST00000402284.3_Missense_Mutation_p.D362N			O00541	PESC_HUMAN	pescadillo ribosomal biogenesis factor 1	379	Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						CCAGGCCGGTCGACAATCTGA	0.572													63	143					0	0	1	0	0	T	30976074	C	T	30976074	3	4	207	1	0	0	0	0	1	0	0	0	11780	884	31	1	651	1	PES1	22	30976074	Missense_Mutation	SNP	C	TCGA-HC-A6AL-01A-11D-A30E-08		30976074	20328492	47	9813											
TAB1	10454	broad.mit.edu	37	chr22	39826029	39826029	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgtcctgcagccaaagcccGaccttaaccctgcagtccac	9	8	7	17	1	0	0	0	0	0	0	2	1	2	0	6	0	5	2	6	0	2	2			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr22:39826029G>A	ENST00000216160.6	+	11	1379	c.1317G>A	c.(1315-1317)ccG>ccA	p.P439P	TAB1_ENST00000331454.3_Intron	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	439					activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						GCCAAAGCCCGACCTTAACCC	0.662													9	131					0	0	1	0	0	A	39826029	G	A	39826029	2	1	207	1	0	0	0	0	0	0	0	1	15552	1045	37	1		1	TAB1	22	39826029	Silent	SNP	G	TCGA-HC-A6AL-01A-11D-A30E-08	8849955	39826029	11478537	48	9814											
LMF2	91289	broad.mit.edu	37	chr22	50943380	50943380	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccccggtccagaggcgccCgtgggtcccgggctccacgt	3	5	16	17	5	0	1	0	0	0	1	3	1	3	1	6	5	0	1	6	5	0	0			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chr22:50943380C>T	ENST00000216080.5	-	10	1381	c.1213G>A	c.(1213-1215)Ggg>Agg	p.G405R	LMF2_ENST00000474879.2_Missense_Mutation_p.G430R|LMF2_ENST00000380796.3_Intron			Q9BU23	LMF2_HUMAN	lipase maturation factor 2	430						endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CAGAGGCGCCCGTGGGTCCCG	0.697													10	14					0	0	1	0	0	T	50943380	C	T	50943380	3	4	207	1	0	0	0	0	1	0	0	0	8887	652	23	1	855	1	LMF2	22	50943380	Missense_Mutation	SNP	C	TCGA-HC-A6AL-01A-11D-A30E-08	11117351	50943380	361186	49	9815											
MED12	9968	broad.mit.edu	37	chrX	70348523	70348523	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctcggcagtgtttgctcctgGaagatctgattcgctgtgct	5	14	12	10	2	1	2	0	1	1	1	4	3	2	3	1	2	2	5	1	2	1	2			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chrX:70348523G>C	ENST00000333646.6	+	24	3629	c.3430G>C	c.(3430-3432)Gaa>Caa	p.E1144Q	MED12_ENST00000374080.3_Missense_Mutation_p.E1144Q|MED12_ENST00000374102.1_Missense_Mutation_p.E1144Q	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1144					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TTTGCTCCTGGAAGATCTGAT	0.468			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome				OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	14					0	0	1	0	0	C	70348523	G	C	70348523	3	2	207	1	0	0	0	0	1	0	0	0	9478	1175	41	4	3524	4	MED12	23	70348523	Missense_Mutation	SNP	G	TCGA-HC-A6AL-01A-11D-A30E-08		70348523	84922037	50	9816											
GPR112	139378	broad.mit.edu	37	chrX	135428548	135428548	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgatatagaaaagctaagtAccccattggataataaaact	18	10	6	7	0	0	2	0	1	0	1	0	3	0	3	2	1	3	2	2	1	9	7			TCGA-HC-A6AL-01A-11D-A30E-08	TCGA-HC-A6AL-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	737965eb-4771-4559-b50a-0a8a12278942	093d9856-cabb-4d96-8609-b309430a7078	g.chrX:135428548A>G	ENST00000394143.1	+	6	2974	c.2683A>G	c.(2683-2685)Acc>Gcc	p.T895A	GPR112_ENST00000287534.4_Missense_Mutation_p.T832A|GPR112_ENST00000412101.1_Missense_Mutation_p.T690A|GPR112_ENST00000370652.1_Missense_Mutation_p.T895A|GPR112_ENST00000394141.1_Missense_Mutation_p.T690A	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	895					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AAAGCTAAGTACCCCATTGGA	0.398													71	34					0	0	1	0	0	G	135428548	A	G	135428548	3	3	207	1	0	0	0	0	1	0	0	0	6669	391	14	3	2693	3	GPR112	23	135428548	Missense_Mutation	SNP	A	TCGA-HC-A6AL-01A-11D-A30E-08	65080025	135428548	19842012	51	9817											
MFN2	9927	broad.mit.edu	37	chr1	12052706	12052706	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagtgagaggcatcagtgaGgtgctggctcggaggcacat	11	7	16	7	1	1	2	1	2	0	1	2	4	1	3	0	5	1	4	0	5	1	0			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr1:12052706G>A	ENST00000235329.5	+	4	592	c.270G>A	c.(268-270)gaG>gaA	p.E90E	MFN2_ENST00000444836.1_Silent_p.E90E	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	90					blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		GCATCAGTGAGGTGCTGGCTC	0.532													96	280					0	0	1	0	0	A	12052706	G	A	12052706	2	1	208	1	0	0	0	0	0	0	0	1	9574	991	35	2		2	MFN2	1	12052706	Silent	SNP	G	TCGA-HC-A6AN-01A-11D-A30E-08		12052706	237197915	1	9818											
RAP1GAP	5909	broad.mit.edu	37	chr1	21926096	21926096	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgagcgcctctgctctctgcGctgcggtctccgctctgcca	2	11	11	17	4	4	1	0	1	4	0	6	1	4	1	3	1	5	3	3	1	0	0			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr1:21926096G>C	ENST00000542643.2	-	23	2047	c.1745C>G	c.(1744-1746)gCg>gGg	p.A582G	RAP1GAP_ENST00000374763.2_Missense_Mutation_p.A641G|RAP1GAP_ENST00000374761.2_Missense_Mutation_p.A587G|RAP1GAP_ENST00000374765.4_Missense_Mutation_p.A556G|RAP1GAP_ENST00000290101.4_Missense_Mutation_p.A620G	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	556					regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		TGCTCTCTGCGCTGCGGTCTC	0.687													19	47					0	0	1	0	0	C	21926096	G	C	21926096	3	2	208	1	0	0	0	0	1	0	0	0	13089	1087	38	4	340	4	RAP1GAP	1	21926096	Missense_Mutation	SNP	G	TCGA-HC-A6AN-01A-11D-A30E-08	9873390	21926096	227324525	2	9819											
MACF1	23499	broad.mit.edu	37	chr1	39920741	39920741	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatcccgcagaacattgaccGagttaaagcccttatcgctg	12	9	8	12	3	0	2	0	1	0	1	2	3	1	2	3	0	2	3	3	0	5	3			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr1:39920741G>A	ENST00000564288.1	+	89	21824	c.21047G>A	c.(21046-21048)cGa>cAa	p.R7016Q	MACF1_ENST00000361689.2_Missense_Mutation_p.R4957Q|MACF1_ENST00000372915.3_Missense_Mutation_p.R6915Q|MACF1_ENST00000317713.7_Missense_Mutation_p.R4957Q|MACF1_ENST00000539005.1_Missense_Mutation_p.R4827Q|MACF1_ENST00000545844.1_Missense_Mutation_p.R4957Q|MACF1_ENST00000289893.4_Missense_Mutation_p.R5459Q|MACF1_ENST00000567887.1_Missense_Mutation_p.R7053Q			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6915					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	p.R4957Q(1)|p.R5459Q(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AACATTGACCGAGTTAAAGCC	0.527													9	68					0	0	1	0	0	A	39920741	G	A	39920741	3	1	208	1	0	0	0	0	1	0	0	0	9190	1058	37	1	21359	1	MACF1	1	39920741	Missense_Mutation	SNP	G	TCGA-HC-A6AN-01A-11D-A30E-08	17994645	39920741	209329880	3	9820											
KCNA3	3738	broad.mit.edu	37	chr1	111216384	111216384	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgtccattgccctgtcGttcggccagctcggtaccca	4	11	10	16	3	0	0	0	0	0	0	4	0	1	0	4	2	4	4	4	2	1	3			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr1:111216384G>A	ENST00000369769.2	-	1	1271	c.1048C>T	c.(1048-1050)Cga>Tga	p.R350*		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	350						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)		TTGCCCTGTCGTTCGGCCAGC	0.547													53	117					0	0	1	0	0	A	111216384	G	A	111216384	4	1	208	1	0	0	0	0	0	1	0	0	8048	1153	40	1	683	1	KCNA3	1	111216384	Nonsense_Mutation	SNP	G	TCGA-HC-A6AN-01A-11D-A30E-08	71295643	111216384	138034237	4	9821											
ANKRD35	148741	broad.mit.edu	37	chr1	145561391	145561391	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcttcaggaaagcaaggctCtagtctccggcctggagggg	9	7	15	10	1	3	0	1	0	2	0	4	2	3	2	2	6	2	3	2	6	3	2			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr1:145561391C>T	ENST00000355594.4	+	10	1166	c.1079C>T	c.(1078-1080)tCt>tTt	p.S360F		NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	360										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AAGCAAGGCTCTAGTCTCCGG	0.592													22	40					0	0	1	0	0	T	145561391	C	T	145561391	3	4	208	1	0	0	0	0	1	0	0	0	659	913	32	2	1117	2	ANKRD35	1	145561391	Missense_Mutation	SNP	C	TCGA-HC-A6AN-01A-11D-A30E-08	34345007	145561391	103689230	5	9822											
GON4L	54856	broad.mit.edu	37	chr1	155734751	155734751	+	Frame_Shift_Del	DEL	T	T	-																															caataagtgatacatattacTgagtccacgaaatacttgag																										TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr1:155734751delT	ENST00000361040.5	-	21	4584	c.4513delA	c.(4513-4515)gtfs	p.S1505fs	GON4L_ENST00000271883.5_Intron|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000368331.1_Intron|GON4L_ENST00000437809.1_Intron	NM_032292.4	NP_115668.4	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	0	Glu-rich.				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TACATATTACTGAGTCCACGA	0.398													27	60	---	---	---	---						-	155734751	T	-	155734751	7	5	208	1	0	1	0	1	0	0	0	0	6611	1580	55	0	2374	0	GON4L	1	155734751	Frame_Shift_Del	DEL	T	TCGA-HC-A6AN-01A-11D-A30E-08	10173360	155734751	93515870	6	9823											
TROVE2	6738	broad.mit.edu	37	chr1	193046080	193046080	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatattttgatcgcattagAaacttacaagacaggtcatg	14	13	7	7	1	2	3	2	1	0	2	3	3	2	3	0	1	2	1	0	1	5	5			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr1:193046080A>G	ENST00000432079.1	+	4	729	c.161A>G	c.(160-162)gAa>gGa	p.E54G	TROVE2_ENST00000367444.3_Missense_Mutation_p.E329G|TROVE2_ENST00000460715.2_3'UTR|TROVE2_ENST00000367443.1_Missense_Mutation_p.E329G|TROVE2_ENST00000367446.3_Missense_Mutation_p.E329G|TROVE2_ENST00000400968.2_Missense_Mutation_p.E329G|TROVE2_ENST00000367445.3_Missense_Mutation_p.E329G|TROVE2_ENST00000416058.2_Missense_Mutation_p.E54G|TROVE2_ENST00000367441.1_Missense_Mutation_p.E329G			P10155	RO60_HUMAN	TROVE domain family, member 2	329	TROVE.				transcription from RNA polymerase III promoter	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|RNA binding			biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						ATCGCATTAGAAACTTACAAG	0.338													10	22					0	0	1	0	0	G	193046080	A	G	193046080	3	3	208	1	0	0	0	0	1	0	0	0	16637	246	9	3	1000	3	TROVE2	1	193046080	Missense_Mutation	SNP	A	TCGA-HC-A6AN-01A-11D-A30E-08	37311329	193046080	56204541	7	9824											
TNS1	7145	broad.mit.edu	37	chr2	218683436	218683436	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggctgggtgggcgtccgggGaccctggtcactgctctctc	3	9	16	13	2	2	0	1	0	1	0	5	1	3	1	2	6	1	2	2	6	0	0			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr2:218683436G>T	ENST00000171887.4	-	24	3759	c.3307C>A	c.(3307-3309)Ccc>Acc	p.P1103T	TNS1_ENST00000419504.1_Missense_Mutation_p.P1090T|TNS1_ENST00000430930.1_Missense_Mutation_p.P1082T	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1103	Ser-rich.					cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GGCGTCCGGGGACCCTGGTCA	0.617													5	73					0.014758	0.014758	1	1	0	T	218683436	G	T	218683436	3	4	208	1	0	0	0	0	1	0	0	0	16403	1174	41	4	1940	4	TNS1	2	218683436	Missense_Mutation	SNP	G	TCGA-HC-A6AN-01A-11D-A30E-08		218683436	24515937	8	9825											
FARSB	10056	broad.mit.edu	37	chr2	223499164	223499164	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttggtcttatttagaggCttgaatttgatatctgaagg	9	17	10	5	0	2	4	0	3	2	1	3	4	3	4	1	3	0	1	1	3	5	7			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr2:223499164C>T	ENST00000281828.6	-	6	815	c.552G>A	c.(550-552)aaG>aaA	p.K184K	FARSB_ENST00000536361.1_Silent_p.K85K	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	184					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	TATTTAGAGGCTTGAATTTGA	0.383													17	62					0	0	1	0	0	T	223499164	C	T	223499164	2	4	208	1	0	0	0	0	0	0	0	1	5713	796	28	2		2	FARSB	2	223499164	Silent	SNP	C	TCGA-HC-A6AN-01A-11D-A30E-08	4815728	223499164	19700209	9	9826											
ATG16L1	55054	broad.mit.edu	37	chr2	234178654	234178654	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttttttcccaacaggaggcgGcaagcccggctgcagaaaga	11	7	12	11	2	0	2	0	0	0	2	1	3	1	3	2	4	3	3	2	4	3	3			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr2:234178654G>A	ENST00000392017.4	+	6	905	c.648G>A	c.(646-648)cgG>cgA	p.R216R	ATG16L1_ENST00000498620.1_3'UTR|ATG16L1_ENST00000347464.5_Silent_p.R72R|ATG16L1_ENST00000392020.4_Silent_p.R216R|ATG16L1_ENST00000373525.5_Silent_p.R72R|ATG16L1_ENST00000392018.1_Silent_p.R216R	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN	autophagy related 16-like 1 (S. cerevisiae)	216					autophagic vacuole assembly|protein homooligomerization|protein transport	autophagic vacuole|pre-autophagosomal structure membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		ACAGGAGGCGGCAAGCCCGGC	0.433													4	116					0	0	1	0	0	A	234178654	G	A	234178654	2	1	208	1	0	0	0	0	0	0	0	1	1090	1190	42	2		2	ATG16L1	2	234178654	Silent	SNP	G	TCGA-HC-A6AN-01A-11D-A30E-08	10679490	234178654	9020719	10	9827											
COL6A3	1293	broad.mit.edu	37	chr2	238275374	238275374	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcaaagggtttcatgcatcGcatcatgcaaagtttccaaa	13	10	9	9	1	2	0	2	0	0	0	4	0	3	0	1	2	2	6	1	2	3	2			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr2:238275374G>A	ENST00000295550.4	-	11	5908	c.5456C>T	c.(5455-5457)gCg>gTg	p.A1819V	COL6A3_ENST00000472056.1_Missense_Mutation_p.A1212V|COL6A3_ENST00000409809.1_Missense_Mutation_p.A1613V|COL6A3_ENST00000353578.4_Missense_Mutation_p.A1613V|COL6A3_ENST00000347401.3_Missense_Mutation_p.A1618V|COL6A3_ENST00000346358.4_Missense_Mutation_p.A1619V	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1819	Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TTCATGCATCGCATCATGCAA	0.498													60	131					0	0	1	0	0	A	238275374	G	A	238275374	3	1	208	1	0	0	0	0	1	0	0	0	3724	1087	38	1	4213	1	COL6A3	2	238275374	Missense_Mutation	SNP	G	TCGA-HC-A6AN-01A-11D-A30E-08	4096720	238275374	4923999	11	9828											
ZBTB47	92999	broad.mit.edu	37	chr3	42704607	42704607	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcactcaggggagaagccGttcagatgtgaggtgagctt	10	8	15	8	1	2	4	2	2	0	2	2	5	2	4	1	3	3	3	1	3	1	2			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr3:42704607G>A	ENST00000457842.3	+	4	2006	c.597G>A	c.(595-597)ccG>ccA	p.P199P	ZBTB47_ENST00000232974.6_Silent_p.P575P|ZBTB47_ENST00000505904.1_Silent_p.P121P	NM_145166.3	NP_660149.2	Q9UFB7	ZBT47_HUMAN	zinc finger and BTB domain containing 47	199					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.216)		GGGAGAAGCCGTTCAGATGTG	0.602													6	118					0	0	1	0	0	A	42704607	G	A	42704607	2	1	208	1	0	0	0	0	0	0	0	1	17607	1132	40	1		1	ZBTB47	3	42704607	Silent	SNP	G	TCGA-HC-A6AN-01A-11D-A30E-08		42704607	155317823	12	9829											
FOXP1	27086	broad.mit.edu	37	chr3	71050125	71050126	+	In_Frame_Ins	INS	-	-	TAGCTC																															aataaatgtggttttacctgINStagctctaactgctgtacaa																										TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr3:71050125_71050126insTAGCTC	ENST00000318789.4	-	13	1584_1585	c.1059_1060insGAGCTA	c.(1057-1062)ctagct>ctGAGCTAagct	p.353_354LA>LS*A	FOXP1_ENST00000498215.1_In_Frame_Ins_p.353_354LA>LS*A|FOXP1_ENST00000475937.1_In_Frame_Ins_p.353_354LA>LS*A|FOXP1_ENST00000493089.1_In_Frame_Ins_p.353_354LA>LS*A|FOXP1_ENST00000484350.1_In_Frame_Ins_p.277_278LA>LS*A|FOXP1_ENST00000491238.1_In_Frame_Ins_p.355_356LA>LS*A|FOXP1_ENST00000468577.1_In_Frame_Ins_p.353_354LA>LS*A	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	353	Leucine-zipper.				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		GGTTTTACCTGTAGCTCTAACT	0.381			T	PAX5	ALL								12	54	---	---	---	---						TAGCTC	71050126	-	TAGCTC	71050125	7	5	208	1	0	1	1	0	0	0	0	0	6060	1386	48	0	1009	0	FOXP1	3	71050125	In_Frame_Ins	INS	-	TCGA-HC-A6AN-01A-11D-A30E-08	28345518	71050125	126972305	13	9830											
ALDH1L1	10840	broad.mit.edu	37	chr3	125850358	125850358	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccagctcctcctggtgctGctccatgagatctgccaacc	6	9	10	16	0	1	1	0	1	1	1	4	2	4	1	6	2	5	3	6	2	1	0			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr3:125850358G>T	ENST00000393434.2	-	13	1841	c.1492C>A	c.(1492-1494)Cag>Aag	p.Q498K	ALDH1L1_ENST00000393431.2_Intron|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.Q397K|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.Q498K|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.Q508K	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	498	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TCCTGGTGCTGCTCCATGAGA	0.642													7	67					0.00448238	0.00456242	1	1	0	T	125850358	G	T	125850358	3	4	208	1	0	0	0	0	1	0	0	0	491	1328	46	4	1260	4	ALDH1L1	3	125850358	Missense_Mutation	SNP	G	TCGA-HC-A6AN-01A-11D-A30E-08	54800233	125850358	72172072	14	9831											
PIK3CA	5290	broad.mit.edu	37	chr3	178916936	178916936	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattgaaccagtaggcaaccGtgaagaaaagatcctcaatc	17	7	8	9	1	1	4	1	2	0	2	3	4	2	4	3	1	2	2	3	1	8	2			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr3:178916936G>A	ENST00000263967.3	+	2	480	c.323G>A	c.(322-324)cGt>cAt	p.R108H		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	108	PI3K-ABD.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.R108H(11)|p.R108L(2)|p.G106_R108delGNR(2)|p.G106_R108del(2)|p.R108P(1)|p.R108del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GTAGGCAACCGTGAAGAAAAG	0.338		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			6	96					0	0	1	0	0	A	178916936	G	A	178916936	3	1	208	1	0	0	0	0	1	0	0	0	11961	1145	40	1	325	1	PIK3CA	3	178916936	Missense_Mutation	SNP	G	TCGA-HC-A6AN-01A-11D-A30E-08	53066578	178916936	19105494	15	9832											
PDE6B	5158	broad.mit.edu	37	chr4	619651	619651	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcgcgtggtcttcaaggTcctgcggcgcctctgcaccc	4	8	14	15	4	3	0	1	0	2	0	4	1	4	1	3	4	3	1	3	4	1	1			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr4:619651T>C	ENST00000255622.6	+	1	279	c.236T>C	c.(235-237)gTc>gCc	p.V79A	PDE6B_ENST00000496514.1_Missense_Mutation_p.V79A	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	79	GAF 1.				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						GTCTTCAAGGTCCTGCGGCGC	0.662													8	19					0	0	1	0	0	C	619651	T	C	619651	3	2	208	1	0	0	0	0	1	0	0	0	11693	1667	58	3	238	3	PDE6B	4	619651	Missense_Mutation	SNP	T	TCGA-HC-A6AN-01A-11D-A30E-08		619651	190534625	16	9833											
WDR1	9948	broad.mit.edu	37	chr4	10089926	10089927	+	Frame_Shift_Del	DEL	CC	CC	-																															ctcatactcactgcgtaaatCccaccgtcgtgggccttgct																										TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr4:10089926_10089927delCC	ENST00000382452.2	-	7	989_990	c.707_708delGG	c.(706-708)gfs	p.G236fs	WDR1_ENST00000502702.1_Frame_Shift_Del_p.G96fs|WDR1_ENST00000499869.2_Frame_Shift_Del_p.G236fs|WDR1_ENST00000515743.1_5'UTR|WDR1_ENST00000382451.2_Frame_Shift_Del_p.G96fs	NM_017491.3	NP_059830.1	O75083	WDR1_HUMAN	WD repeat domain 1	236					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		CTGCGTAAATCCCACCGTCGTG	0.53													2	4	---	---	---	---						-	10089927	CC	-	10089926	7	5	208	1	0	1	0	1	0	0	0	0	17332	842	30	0	1148	0	WDR1	4	10089926	Frame_Shift_Del	DEL	CC	TCGA-HC-A6AN-01A-11D-A30E-08	9470275	10089926	181064350	17	9834											
SLC9A3	6550	broad.mit.edu	37	chr5	482257	482257	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttcagccactgcaccagagGcttgatggtcaggccctgga	8	8	12	13	0	2	2	2	1	0	1	2	3	2	3	3	4	2	2	3	4	0	2			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr5:482257G>T	ENST00000264938.3	-	8	1381	c.1372C>A	c.(1372-1374)Cct>Act	p.P458T	SLC9A3_ENST00000514375.1_Intron	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	458						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			TGCACCAGAGGCTTGATGGTC	0.692													17	32					1.15919e-05	1.27065e-05	1	1	0	T	482257	G	T	482257	3	4	208	1	0	0	0	0	1	0	0	0	14768	1203	42	4	1172	4	SLC9A3	5	482257	Missense_Mutation	SNP	G	TCGA-HC-A6AN-01A-11D-A30E-08		482257	180433003	18	9835											
PDZD2	23037	broad.mit.edu	37	chr5	32090990	32090990	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagccctcgcccgtgtcccGctccaagctccaggagctga	6	6	11	18	3	0	1	0	1	0	0	4	2	3	2	5	1	3	4	5	1	1	0			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr5:32090990G>A	ENST00000438447.1	+	20	7824	c.7436G>A	c.(7435-7437)cGc>cAc	p.R2479H	PDZD2_ENST00000282493.3_Missense_Mutation_p.R2479H			O15018	PDZD2_HUMAN	PDZ domain containing 2	2479					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CCCGTGTCCCGCTCCAAGCTC	0.592													4	124					0	0	1	0	0	A	32090990	G	A	32090990	3	1	208	1	0	0	0	0	1	0	0	0	11748	1087	38	1	7510	1	PDZD2	5	32090990	Missense_Mutation	SNP	G	TCGA-HC-A6AN-01A-11D-A30E-08	31608733	32090990	148824270	19	9836											
KDM3B	51780	broad.mit.edu	37	chr5	137721936	137721936	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccagtggagagccagggctgGatcagagagccaagcagcca	12	3	15	11	0	1	2	1	0	0	2	1	5	1	3	4	3	4	2	4	3	1	0			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr5:137721936G>T	ENST00000314358.5	+	7	1206	c.1006G>T	c.(1006-1008)Gat>Tat	p.D336Y	KDM3B_ENST00000394866.1_Intron	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	336					chromatin modification|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			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						GCCAGGGCTGGATCAGAGAGC	0.552													52	194					3.68337e-26	4.28474e-26	1	1	0	T	137721936	G	T	137721936	3	4	208	1	0	0	0	0	1	0	0	0	8171	1174	41	4	1032	4	KDM3B	5	137721936	Missense_Mutation	SNP	G	TCGA-HC-A6AN-01A-11D-A30E-08	105630946	137721936	43193324	20	9837											
KIAA0141	9812	broad.mit.edu	37	chr5	141305054	141305054	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttccaatggatgtcttccCgtgtctccccgaacacccta	7	11	6	17	2	2	0	0	0	2	0	5	2	4	1	6	1	1	0	6	1	3	3			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr5:141305054C>T	ENST00000432126.2	+	3	360	c.226C>T	c.(226-228)Cgt>Tgt	p.R76C	KIAA0141_ENST00000194118.4_Missense_Mutation_p.R76C	NM_001142603.1|NM_014773.3	NP_001136075.1|NP_055588.3	Q14154	DELE_HUMAN	KIAA0141	76					apoptosis|regulation of caspase activity	mitochondrion	protein binding			endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATGTCTTCCCGTGTCTCCCC	0.547													4	155					0	0	1	0	0	T	141305054	C	T	141305054	3	4	208	1	0	0	0	0	1	0	0	0	8198	652	23	1	236	1	KIAA0141	5	141305054	Missense_Mutation	SNP	C	TCGA-HC-A6AN-01A-11D-A30E-08	3583118	141305054	39610206	21	9838											
PRELID1	27166	broad.mit.edu	37	chr5	176731691	176731691	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaccagaaactgctgtcccGgcgactcctgaccaagacca	11	6	9	15	2	0	4	0	2	0	2	2	5	2	4	5	1	2	1	5	1	2	0			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr5:176731691G>A	ENST00000303204.4	+	2	370	c.158G>A	c.(157-159)cGg>cAg	p.R53Q	PRELID1_ENST00000503216.1_Missense_Mutation_p.R53Q|PRELID1_ENST00000502670.1_3'UTR			Q9Y255	PRLD1_HUMAN	PRELI domain containing 1	53	PRELI/MSF1.				immune response|multicellular organismal development	mitochondrion|nucleus				endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	7	all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGCTGTCCCGGCGACTCCTG	0.567													12	42					0	0	1	0	0	A	176731691	G	A	176731691	3	1	208	1	0	0	0	0	1	0	0	0	12523	1116	39	1	164	1	PRELID1	5	176731691	Missense_Mutation	SNP	G	TCGA-HC-A6AN-01A-11D-A30E-08	35426637	176731691	4183569	22	9839											
SERPINB1	1992	broad.mit.edu	37	chr6	2834226	2834226	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccactcatgcaacttttcCaaagtcaactgttcctcaat	11	13	4	13	0	3	0	3	0	0	0	6	0	6	0	3	0	3	2	3	0	4	3			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr6:2834226C>G	ENST00000380739.5	-	7	958	c.756G>C	c.(754-756)ttG>ttC	p.L252F	SERPINB1_ENST00000537185.1_Missense_Mutation_p.L101F			P30740	ILEU_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 1	252					regulation of proteolysis	cytoplasm|extracellular space	serine-type endopeptidase inhibitor activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|ovary(2)	13	Ovarian(93;0.0412)			OV - Ovarian serous cystadenocarcinoma(45;0.0717)		GCAACTTTTCCAAAGTCAACT	0.363													9	45					0	0	1	0	0	G	2834226	C	G	2834226	3	3	208	1	0	0	0	0	1	0	0	0	14150	593	21	4	387	4	SERPINB1	6	2834226	Missense_Mutation	SNP	C	TCGA-HC-A6AN-01A-11D-A30E-08		2834226	168280841	23	9840											
ANKRD6	22881	broad.mit.edu	37	chr6	90340367	90340367	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagccagatctgatcagcagGctgggccctgcgtcaacaga	10	6	12	13	1	3	3	2	1	1	2	3	3	3	3	2	2	4	2	2	2	1	0			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr6:90340367G>C	ENST00000369408.5	+	15	2072	c.1723G>C	c.(1723-1725)Gct>Cct	p.A575P	ANKRD6_ENST00000447838.2_Missense_Mutation_p.A605P|ANKRD6_ENST00000339746.4_Missense_Mutation_p.A610P|ANKRD6_ENST00000522441.1_Missense_Mutation_p.A610P|ANKRD6_ENST00000520793.1_Missense_Mutation_p.A546P|LYRM2_ENST00000520441.1_Intron	NM_001242813.1	NP_001229742.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	610							protein binding			NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		TGATCAGCAGGCTGGGCCCTG	0.582													9	29					0	0	1	0	0	C	90340367	G	C	90340367	3	2	208	1	0	0	0	0	1	0	0	0	679	1203	42	4	1871	4	ANKRD6	6	90340367	Missense_Mutation	SNP	G	TCGA-HC-A6AN-01A-11D-A30E-08	87506141	90340367	80774700	24	9841											
REV3L	5980	broad.mit.edu	37	chr6	111685156	111685156	+	Frame_Shift_Del	DEL	G	G	-																															tctgagaagtttctttctgtGgggtatttactgctgcaaat																										TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr6:111685156delG	ENST00000435970.1	-	18	7361	c.6545delC	c.(6544-6546)cafs	p.P2182fs	REV3L_ENST00000358835.3_Frame_Shift_Del_p.P2260fs|REV3L_ENST00000368802.3_Frame_Shift_Del_p.P2260fs|REV3L_ENST00000368805.1_Frame_Shift_Del_p.P2260fs			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2260					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TTCTTTCTGTGGGGTATTTAC	0.338								DNA polymerases (catalytic subunits)					33	71	---	---	---	---						-	111685156	G	-	111685156	7	5	208	1	0	1	0	1	0	0	0	0	13292	1348	47	0	2681	0	REV3L	6	111685156	Frame_Shift_Del	DEL	G	TCGA-HC-A6AN-01A-11D-A30E-08	21344789	111685156	59429911	25	9842											
ADAP1	11033	broad.mit.edu	37	chr7	939748	939748	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacacccaccttgggcccCgtcttctccatgtagccttc	5	10	8	18	1	2	0	0	0	2	0	4	0	2	0	6	2	1	2	6	2	1	4	rs139452042		TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr7:939748C>G	ENST00000265846.5	-	8	1005	c.786G>C	c.(784-786)acG>acC	p.T262T	ADAP1_ENST00000449296.2_Silent_p.T190T|ADAP1_ENST00000539900.1_Silent_p.T273T	NM_006869.2	NP_006860.1	O75689	ADAP1_HUMAN	ArfGAP with dual PH domains 1	262	PH 2.				cell surface receptor linked signaling pathway|regulation of ARF GTPase activity	cytoplasm|nucleus|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	6						CCTTGGGCCCCGTCTTCTCCA	0.647													51	138					0	0	1	0	0	G	939748	C	G	939748	2	3	208	1	0	0	0	0	0	0	0	1	278	639	23	4		4	ADAP1	7	939748	Silent	SNP	C	TCGA-HC-A6AN-01A-11D-A30E-08		939748	158198915	26	9843											
CCDC129	223075	broad.mit.edu	37	chr7	31690866	31690866	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggccctcttttccagggaCatgtcagaggaggaaaggta	11	8	13	9	0	2	1	1	0	1	1	3	4	3	4	2	5	0	1	2	5	2	3			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr7:31690866C>A	ENST00000319386.3	+	12	3243	c.2250C>A	c.(2248-2250)gaC>gaA	p.D750E	CCDC129_ENST00000409210.1_Missense_Mutation_p.D806E|CCDC129_ENST00000451887.2_Missense_Mutation_p.D924E|CCDC129_ENST00000407970.3_Missense_Mutation_p.D898E			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	898										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TTTCCAGGGACATGTCAGAGG	0.473													38	97					1.69901e-12	1.93687e-12	1	1	0	A	31690866	C	A	31690866	3	1	208	1	0	0	0	0	1	0	0	0	2782	477	17	4	2736	4	CCDC129	7	31690866	Missense_Mutation	SNP	C	TCGA-HC-A6AN-01A-11D-A30E-08	30751118	31690866	127447797	27	9844											
MAGI2	9863	broad.mit.edu	37	chr7	77764435	77764435	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatgatagactggccattCactgctaggatccggtctcc	8	12	10	11	1	2	3	1	2	1	1	4	4	3	4	3	3	1	1	3	3	2	4			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr7:77764435C>A	ENST00000354212.4	-	17	3187	c.2934G>T	c.(2932-2934)gtG>gtT	p.V978V	MAGI2_ENST00000419488.1_Silent_p.V964V|MAGI2_ENST00000522391.1_Silent_p.V978V	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	978	PDZ 5.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				ACTGGCCATTCACTGCTAGGA	0.502													31	65					1.7881e-09	1.99847e-09	1	1	0	A	77764435	C	A	77764435	2	1	208	1	0	0	0	0	0	0	0	1	9241	813	29	4		4	MAGI2	7	77764435	Silent	SNP	C	TCGA-HC-A6AN-01A-11D-A30E-08	46073569	77764435	81374228	28	9845											
ZNF746	155061	broad.mit.edu	37	chr7	149174826	149174826	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcatcaagaggtctggggCgggaactgggggccccgagc	7	5	18	11	2	2	1	1	0	1	1	2	3	2	2	2	6	3	1	2	6	2	0	rs147702038		TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr7:149174826C>T	ENST00000340622.3	-	5	821	c.541G>A	c.(541-543)Gcc>Acc	p.A181T	ZNF746_ENST00000458143.2_Missense_Mutation_p.A181T			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	181					negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			AGGTCTGGGGCGGGAACTGGG	0.647													8	25					0	0	1	0	0	T	149174826	C	T	149174826	3	4	208	1	0	0	0	0	1	0	0	0	18179	768	27	1	1408	1	ZNF746	7	149174826	Missense_Mutation	SNP	C	TCGA-HC-A6AN-01A-11D-A30E-08	71410391	149174826	9963837	29	9846											
PTPRN2	5799	broad.mit.edu	37	chr7	157931053	157931053	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccagactctcccagggcCgctctcccagggctgcctcg	4	8	10	19	2	3	1	0	0	3	1	7	1	3	1	5	2	1	2	5	2	0	0	rs144691858	byFrequency	TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr7:157931053C>T	ENST00000389413.3	-	7	1168	c.1065G>A	c.(1063-1065)gcG>gcA	p.A355A	PTPRN2_ENST00000409483.1_Silent_p.A317A|PTPRN2_ENST00000389416.4_Silent_p.A338A|PTPRN2_ENST00000389418.4_Silent_p.A355A|PTPRN2_ENST00000404321.2_Silent_p.A378A	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	355						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CTCCCAGGGCCGCTCTCCCAG	0.672													39	41					0	0	1	0	0	T	157931053	C	T	157931053	2	4	208	1	0	0	0	0	0	0	0	1	12860	639	23	1		1	PTPRN2	7	157931053	Silent	SNP	C	TCGA-HC-A6AN-01A-11D-A30E-08	8756227	157931053	1207610	30	9847											
KCNK9	51305	broad.mit.edu	37	chr8	140715136	140715136	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttctcctcctcgcgcatctCgtggtccgactcgagggcgt	3	12	11	15	6	2	0	0	0	2	0	8	2	4	0	3	2	0	1	3	2	0	1			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr8:140715136C>T	ENST00000520439.1	-	1	163	c.100G>A	c.(100-102)Gag>Aag	p.E34K	KCNK9_ENST00000303015.1_Missense_Mutation_p.E34K			Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	34						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			TCGCGCATCTCGTGGTCCGAC	0.607													6	33					0	0	1	0	0	T	140715136	C	T	140715136	3	4	208	1	0	0	0	0	1	0	0	0	8116	893	31	1	1032	1	KCNK9	8	140715136	Missense_Mutation	SNP	C	TCGA-HC-A6AN-01A-11D-A30E-08		140715136	5648886	31	9848											
NEBL	10529	broad.mit.edu	37	chr10	21158736	21158736	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcaagttctgcactgtacGtgtgggtgtcctgcacgtct	5	13	13	10	2	3	0	1	0	2	0	4	0	4	0	1	2	3	4	1	2	2	2			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr10:21158736G>A	ENST00000377122.4	-	6	911	c.515C>T	c.(514-516)aCg>aTg	p.T172M	NEBL_ENST00000377119.1_Missense_Mutation_p.T172M|NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	172					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGCACTGTACGTGTGGGTGTC	0.378													24	42					0	0	1	0	0	A	21158736	G	A	21158736	3	1	208	1	0	0	0	0	1	0	0	0	10350	1145	40	1	2621	1	NEBL	10	21158736	Missense_Mutation	SNP	G	TCGA-HC-A6AN-01A-11D-A30E-08		21158736	114376011	32	9849											
OR5P3	120066	broad.mit.edu	37	chr11	7846675	7846675	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcagggggttcaacatgggaAtcaccacggtgtagaacaca	13	7	12	9	1	3	1	3	0	0	1	3	2	3	2	1	4	2	2	1	4	4	2			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr11:7846675A>G	ENST00000328375.1	-	1	844	c.845T>C	c.(844-846)aTt>aCt	p.I282T	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CAACATGGGAATCACCACGGT	0.443													20	50					0	0	1	0	0	G	7846675	A	G	7846675	3	3	208	1	0	0	0	0	1	0	0	0	11226	101	4	3	93	3	OR5P3	11	7846675	Missense_Mutation	SNP	A	TCGA-HC-A6AN-01A-11D-A30E-08		7846675	127159841	33	9850											
OR8B2	26595	broad.mit.edu	37	chr11	124252655	124252655	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaatgagaacaaccacctcGttgacataggtgctggtgca	13	8	10	10	1	0	2	0	2	0	1	1	3	0	2	2	2	4	3	2	2	4	2			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr11:124252655G>A	ENST00000375013.2	-	1	603	c.585C>T	c.(583-585)aaC>aaT	p.N195N		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		CAACCACCTCGTTGACATAGG	0.438													37	90					0	0	1	0	0	A	124252655	G	A	124252655	2	1	208	1	0	0	0	0	0	0	0	1	11274	1136	40	1		1	OR8B2	11	124252655	Silent	SNP	G	TCGA-HC-A6AN-01A-11D-A30E-08	116405980	124252655	10753861	34	9851											
KCNJ5	3762	broad.mit.edu	37	chr11	128781968	128781968	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgacacgggcgacgaccGcctcttccttgtgtctcctc	4	12	9	16	4	2	1	0	1	2	0	5	3	3	1	4	1	0	0	4	1	0	3			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr11:128781968G>T	ENST00000529694.1	+	2	1176	c.800G>T	c.(799-801)cGc>cTc	p.R267L	KCNJ5_ENST00000533599.1_Missense_Mutation_p.R267L|KCNJ5_ENST00000338350.4_Missense_Mutation_p.R267L	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	267					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	GGCGACGACCGCCTCTTCCTT	0.552													46	89					2.81305e-35	3.3405e-35	1	1	0	T	128781968	G	T	128781968	3	4	208	1	0	0	0	0	1	0	0	0	8098	1087	38	4	802	4	KCNJ5	11	128781968	Missense_Mutation	SNP	G	TCGA-HC-A6AN-01A-11D-A30E-08	4529313	128781968	6224548	35	9852											
VWF	7450	broad.mit.edu	37	chr12	6125273	6125273	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgttggacctggcggcatCagctgctgcatccactgaat	8	10	11	12	1	1	1	1	1	0	0	2	2	2	2	2	3	3	5	2	3	1	1			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr12:6125273C>A	ENST00000261405.5	-	31	5691	c.5437G>T	c.(5437-5439)Gat>Tat	p.D1813Y		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	1813	VWFA 3; main binding site for collagens type I and III.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CTGGCGGCATCAGCTGCTGCA	0.517													10	44					6.40141e-05	6.75704e-05	1	1	0	A	6125273	C	A	6125273	3	1	208	1	0	0	0	0	1	0	0	0	17306	826	29	4	3092	4	VWF	12	6125273	Missense_Mutation	SNP	C	TCGA-HC-A6AN-01A-11D-A30E-08		6125273	127726622	36	9853											
RNF6	6049	broad.mit.edu	37	chr13	26789603	26789603	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctccattgttcgggtttgttCgactcacagctctccaagtt	6	15	8	12	2	2	0	1	0	1	0	6	1	3	0	2	1	1	5	2	1	1	5			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr13:26789603C>T	ENST00000381588.4	-	5	1168	c.416G>A	c.(415-417)cGa>cAa	p.R139Q	RNF6_ENST00000399762.2_Intron|RNF6_ENST00000468480.1_Intron|RNF6_ENST00000381570.3_Missense_Mutation_p.R139Q|RNF6_ENST00000346166.3_Missense_Mutation_p.R139Q	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	139					negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		CGGGTTTGTTCGACTCACAGC	0.403													6	91					0	0	1	0	0	T	26789603	C	T	26789603	3	4	208	1	0	0	0	0	1	0	0	0	13550	884	31	1	1645	1	RNF6	13	26789603	Missense_Mutation	SNP	C	TCGA-HC-A6AN-01A-11D-A30E-08		26789603	88380275	37	9854											
FBN1	2200	broad.mit.edu	37	chr15	48713823	48713823	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaggtgaagcttccaggaGtgttctggcaaatgccctta	10	10	11	10	0	1	1	0	1	1	0	2	2	2	2	2	3	2	3	2	3	3	3			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr15:48713823G>A	ENST00000316623.5	-	62	8086	c.7631C>T	c.(7630-7632)aCt>aTt	p.T2544I		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	2544	EGF-like 44; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GCTTCCAGGAGTGTTCTGGCA	0.527													12	22					0	0	1	0	0	A	48713823	G	A	48713823	3	1	208	1	0	0	0	0	1	0	0	0	5735	1029	36	2	1004	2	FBN1	15	48713823	Missense_Mutation	SNP	G	TCGA-HC-A6AN-01A-11D-A30E-08		48713823	53817569	38	9855											
NDUFB10	4716	broad.mit.edu	37	chr16	2011248	2011248	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgagtgcaaggaggaggaCatcatgtgcatgtatgaagc	13	8	14	6	0	1	2	1	2	0	0	1	5	1	5	0	3	3	3	0	3	3	1			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr16:2011248C>G	ENST00000543683.2	+	2	307	c.225C>G	c.(223-225)gaC>gaG	p.D75E	NDUFB10_ENST00000268668.6_Missense_Mutation_p.D75E|NDUFB10_ENST00000569148.1_Missense_Mutation_p.D75E			O96000	NDUBA_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10, 22kDa	75					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding			lung(1)|urinary_tract(1)	2					NADH(DB00157)	AGGAGGAGGACATCATGTGCA	0.532													37	98					0	0	1	0	0	G	2011248	C	G	2011248	3	3	208	1	0	0	0	0	1	0	0	0	10326	477	17	4	231	4	NDUFB10	16	2011248	Missense_Mutation	SNP	C	TCGA-HC-A6AN-01A-11D-A30E-08		2011248	88343505	39	9856											
CREBBP	1387	broad.mit.edu	37	chr16	3778738	3778738	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccacgtacttggctgtgcGctgtttgatgaaagctgcca	7	11	13	10	2	0	2	0	2	0	0	0	2	0	2	2	2	4	5	2	2	2	3			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr16:3778738G>A	ENST00000262367.5	-	31	7119	c.6310C>T	c.(6310-6312)Cgc>Tgc	p.R2104C	CREBBP_ENST00000382070.3_Missense_Mutation_p.R2066C	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	2104					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TTGGCTGTGCGCTGTTTGATG	0.622			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						7	398					0	0	1	0	0	A	3778738	G	A	3778738	3	1	208	1	0	0	0	0	1	0	0	0	3884	1087	38	1	1022	1	CREBBP	16	3778738	Missense_Mutation	SNP	G	TCGA-HC-A6AN-01A-11D-A30E-08	1767490	3778738	86576015	40	9857											
DNAH3	55567	broad.mit.edu	37	chr16	21078692	21078692	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttggcttcttgaagcttctCtgccatccgtggctggtcgg	3	14	13	11	2	2	1	0	1	2	0	5	1	3	1	2	4	2	4	2	4	1	4			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr16:21078692C>T	ENST00000261383.3	-	24	3429	c.3430G>A	c.(3430-3432)Gag>Aag	p.E1144K	DNAH3_ENST00000415178.1_Missense_Mutation_p.E1144K	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1144	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.E1144K(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGAAGCTTCTCTGCCATCCGT	0.468													4	99					0	0	1	0	0	T	21078692	C	T	21078692	3	4	208	1	0	0	0	0	1	0	0	0	4631	922	32	2	9075	2	DNAH3	16	21078692	Missense_Mutation	SNP	C	TCGA-HC-A6AN-01A-11D-A30E-08	17299954	21078692	69276061	41	9858											
UBFD1	56061	broad.mit.edu	37	chr16	23578315	23578315	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctcaacttagagcggacTgagaaattgcccatgggctc	10	9	10	12	1	1	2	1	1	1	2	3	4	1	3	2	2	3	1	2	2	3	2			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr16:23578315T>C	ENST00000395878.3	+	6	1125	c.744T>C	c.(742-744)acT>acC	p.T248T	UBFD1_ENST00000219638.4_Silent_p.T472T|UBFD1_ENST00000567212.1_Silent_p.T239T	NM_019116.2	NP_061989.2	O14562	UBFD1_HUMAN	ubiquitin family domain containing 1	248										endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7				GBM - Glioblastoma multiforme(48;0.0331)		TAGAGCGGACTGAGAAATTGC	0.498													5	119					0	0	1	0	0	C	23578315	T	C	23578315	2	2	208	1	0	0	0	0	0	0	0	1	16945	1567	55	3		3	UBFD1	16	23578315	Silent	SNP	T	TCGA-HC-A6AN-01A-11D-A30E-08	2499623	23578315	66776438	42	9859											
NQO1	1728	broad.mit.edu	37	chr16	69752046	69752046	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggaatatcacaaggtctgCggcttccagcttcttttgtt	7	15	9	10	1	3	0	1	0	2	0	4	1	4	1	1	3	2	3	1	3	3	6			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr16:69752046C>T	ENST00000320623.5	-	3	794	c.283G>A	c.(283-285)Gca>Aca	p.A95T	NQO1_ENST00000564043.1_Missense_Mutation_p.A74T|NQO1_ENST00000379046.2_Missense_Mutation_p.A95T|NQO1_ENST00000561500.1_Missense_Mutation_p.A95T|NQO1_ENST00000439109.2_Missense_Mutation_p.A95T|NQO1_ENST00000379047.3_Missense_Mutation_p.A95T	NM_000903.2	NP_000894.1	P15559	NQO1_HUMAN	NAD(P)H dehydrogenase, quinone 1	95					nitric oxide biosynthetic process|regulation of cellular amino acid metabolic process|response to toxin|synaptic transmission, cholinergic|xenobiotic metabolic process	cytosol	coenzyme binding|cytochrome-b5 reductase activity|electron carrier activity|NAD(P)H dehydrogenase (quinone) activity			autonomic_ganglia(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	10					Dicumarol(DB00266)|Menadione(DB00170)	ACAAGGTCTGCGGCTTCCAGC	0.488													5	325					0	0	1	0	0	T	69752046	C	T	69752046	3	4	208	1	0	0	0	0	1	0	0	0	10659	768	27	1	557	1	NQO1	16	69752046	Missense_Mutation	SNP	C	TCGA-HC-A6AN-01A-11D-A30E-08	46173731	69752046	20602707	43	9860											
TEKT1	83659	broad.mit.edu	37	chr17	6733629	6733629	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcgtctgctctgtggtactGgttcttgttagcaatgtgcc	5	15	12	9	1	3	0	0	0	3	0	3	0	3	0	1	2	5	5	1	2	3	4			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr17:6733629G>T	ENST00000338694.2	-	2	196	c.67C>A	c.(67-69)Cag>Aag	p.Q23K	TEKT1_ENST00000535086.1_5'UTR	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	23					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				CTGTGGTACTGGTTCTTGTTA	0.468													10	40					0.000442599	0.000458694	1	1	0	T	6733629	G	T	6733629	3	4	208	1	0	0	0	0	1	0	0	0	15811	1357	47	4	1217	4	TEKT1	17	6733629	Missense_Mutation	SNP	G	TCGA-HC-A6AN-01A-11D-A30E-08		6733629	74461581	44	9861											
DCC	1630	broad.mit.edu	37	chr18	50432638	50432638	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acattggaatttaccgatgcTcagctcgaaatccagccagc	12	9	8	12	2	1	0	1	0	0	0	3	3	2	1	3	1	5	2	3	1	3	3			TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr18:50432638T>A	ENST00000442544.2	+	3	1253	c.637T>A	c.(637-639)Tca>Aca	p.S213T	DCC_ENST00000412726.1_Missense_Mutation_p.S61T	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	213	Ig-like C2-type 2.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TTACCGATGCTCAGCTCGAAA	0.493													38	61					0	0	1	0	0	A	50432638	T	A	50432638	3	1	208	1	0	0	0	0	1	0	0	0	4305	1551	54	5	647	5	DCC	18	50432638	Missense_Mutation	SNP	T	TCGA-HC-A6AN-01A-11D-A30E-08		50432638	27644610	45	9862											
CBS	875	broad.mit.edu	37	chr21	44476945	44476945	+	Frame_Shift_Del	DEL	T	T	-																															cgtgcaccaccagggcgaagTggtccatctccaggatgtgc																										TCGA-HC-A6AN-01A-11D-A30E-08	TCGA-HC-A6AN-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	046c8e49-c295-4b2f-ad1a-da6cb0958544	5318522e-d56a-4eb2-88ae-b76fcf183a78	g.chr21:44476945delT	ENST00000398165.3	-	16	1779	c.1520delA	c.(1519-1521)ccfs	p.H507fs	CBS_ENST00000544202.1_Frame_Shift_Del_p.H419fs|CBS_ENST00000398168.1_Frame_Shift_Del_p.H507fs|CBS_ENST00000398158.1_Frame_Shift_Del_p.H507fs|CBS_ENST00000359624.3_Frame_Shift_Del_p.H507fs|CBS_ENST00000352178.5_Frame_Shift_Del_p.H507fs	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN	cystathionine-beta-synthase	507					cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	CAGGGCGAAGTGGTCCATCTC	0.652													2	4	---	---	---	---						-	44476945	T	-	44476945	7	5	208	1	0	1	0	1	0	0	0	0	2729	1696	59	0	143	0	CBS	21	44476945	Frame_Shift_Del	DEL	T	TCGA-HC-A6AN-01A-11D-A30E-08		44476945	3652950	46	9863											
TINAGL1	64129	broad.mit.edu	37	chr1	32050623	32050623	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctcgatggtgcctggtggttCctgcgtcgccgagggtatgc	3	11	16	11	4	0	0	0	0	0	0	3	2	1	0	3	4	3	2	3	4	1	2			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr1:32050623C>T	ENST00000271064.7	+	7	919	c.843C>T	c.(841-843)ttC>ttT	p.F281F	TINAGL1_ENST00000537531.1_3'UTR|TINAGL1_ENST00000457433.2_Silent_p.F250F|TINAGL1_ENST00000481165.1_3'UTR	NM_001204415.1|NM_022164.2	NP_001191344.1|NP_071447.1	Q9GZM7	TINAL_HUMAN	tubulointerstitial nephritis antigen-like 1	281					endosome transport|immune response|proteolysis	extracellular region	cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity			breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		CCTGGTGGTTCCTGCGTCGCC	0.637													20	73					0	0	1	0	0	T	32050623	C	T	32050623	2	4	209	1	0	0	0	0	0	0	0	1	15982	854	30	2		2	TINAGL1	1	32050623	Silent	SNP	C	TCGA-HC-A6AO-01A-11D-A30E-08		32050623	217199998	1	9864											
COL11A1	1301	broad.mit.edu	37	chr1	103488378	103488378	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcttgttggtttatcttcatAttctttatattcataaaaat	11	21	4	5	0	4	0	2	0	2	0	4	0	4	0	0	1	0	3	0	1	7	12			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr1:103488378A>G	ENST00000358392.2	-	8	1518	c.1201T>C	c.(1201-1203)Tat>Cat	p.Y401H	COL11A1_ENST00000370096.3_Missense_Mutation_p.Y389H|COL11A1_ENST00000353414.4_Missense_Mutation_p.Y350H|COL11A1_ENST00000512756.1_Intron	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	389	Nonhelical 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)		TTATCTTCATATTCTTTATAT	0.363													5	65					0	0	1	0	0	G	103488378	A	G	103488378	3	3	209	1	0	0	0	0	1	0	0	0	3690	449	16	3	4495	3	COL11A1	1	103488378	Missense_Mutation	SNP	A	TCGA-HC-A6AO-01A-11D-A30E-08	71437755	103488378	145762243	2	9865											
GPATCH4	54865	broad.mit.edu	37	chr1	156565530	156565530	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggggggcttgctctctgaCtgcagttgaggggccccagg	4	10	17	10	0	1	2	0	2	1	0	2	2	1	2	2	6	2	4	2	6	0	3			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr1:156565530C>G	ENST00000368232.4	-	8	720	c.588G>C	c.(586-588)caG>caC	p.Q196H	GPATCH4_ENST00000438976.2_Missense_Mutation_p.Q201H|GPATCH4_ENST00000497287.1_5'UTR	NM_015590.3|NM_182679.2	NP_056405.2|NP_872620.1	Q5T3I0	GPTC4_HUMAN	G patch domain containing 4	196						intracellular	nucleic acid binding			autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGCTCTCTGACTGCAGTTGAG	0.537													29	47					0	0	1	0	0	G	156565530	C	G	156565530	3	3	209	1	0	0	0	0	1	0	0	0	6633	564	20	4	528	4	GPATCH4	1	156565530	Missense_Mutation	SNP	C	TCGA-HC-A6AO-01A-11D-A30E-08	53077152	156565530	92685091	3	9866											
MFSD2B	388931	broad.mit.edu	37	chr2	24247038	24247038	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcaaagtcctcattggcGccgtgcccacctgcatgatc	7	9	8	17	2	2	1	2	1	0	0	4	1	3	1	5	1	2	1	5	1	1	1			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr2:24247038G>A	ENST00000338315.4	+	13	1387	c.1387G>A	c.(1387-1389)Gcc>Acc	p.A463T	MFSD2B_ENST00000406420.3_Missense_Mutation_p.A463T			A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	463					transport	integral to membrane		p.A463T(1)		cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						CCTCATTGGCGCCGTGCCCAC	0.607													7	32					0	0	1	0	0	A	24247038	G	A	24247038	3	1	209	1	0	0	0	0	1	0	0	0	9581	1087	38	1	1437	1	MFSD2B	2	24247038	Missense_Mutation	SNP	G	TCGA-HC-A6AO-01A-11D-A30E-08		24247038	218952335	4	9867											
PLEKHH2	130271	broad.mit.edu	37	chr2	43937680	43937680	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaacttagtgcatcctgtaGtattttaagaggagataaca	14	13	9	5	0	0	3	0	1	0	2	1	4	1	3	1	1	3	3	1	1	6	6			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr2:43937680G>A	ENST00000282406.4	+	14	2377	c.2267G>A	c.(2266-2268)aGt>aAt	p.S756N		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	756	PH 1.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GCATCCTGTAGTATTTTAAGA	0.299													5	57					0	0	1	0	0	A	43937680	G	A	43937680	3	1	209	1	0	0	0	0	1	0	0	0	12125	1029	36	2	2317	2	PLEKHH2	2	43937680	Missense_Mutation	SNP	G	TCGA-HC-A6AO-01A-11D-A30E-08	19690642	43937680	199261693	5	9868											
FAM161A	84140	broad.mit.edu	37	chr2	62066623	62066623	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gttgcagttacaaggcacagGgtttacacctgcacatctta	11	11	9	10	0	1	0	0	0	1	0	1	0	1	0	1	2	4	6	1	2	4	5			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr2:62066623G>T	ENST00000404929.1	-	3	1527	c.1516C>A	c.(1516-1518)Cct>Act	p.P506T	FAM161A_ENST00000405894.3_Missense_Mutation_p.P506T	NM_001201543.1	NP_001188472.1	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	506					response to stimulus|visual perception	centrosome				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CAAGGCACAGGGTTTACACCT	0.473													10	71					2.80697e-09	3.18484e-09	1	1	0	T	62066623	G	T	62066623	3	4	209	1	0	0	0	0	1	0	0	0	5502	1232	43	4	482	4	FAM161A	2	62066623	Missense_Mutation	SNP	G	TCGA-HC-A6AO-01A-11D-A30E-08	18128943	62066623	181132750	6	9869											
DPPA2	151871	broad.mit.edu	37	chr3	109027103	109027103	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccttgcgtttcctcgaacatCgctgtaatctggtctcttgt	5	16	8	12	3	2	0	0	0	2	0	6	1	3	0	2	1	2	3	2	1	2	4			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr3:109027103C>T	ENST00000478945.1	-	6	680	c.434G>A	c.(433-435)cGa>cAa	p.R145Q		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	145						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCTCGAACATCGCTGTAATCT	0.438													19	38					0	0	1	0	0	T	109027103	C	T	109027103	3	4	209	1	0	0	0	0	1	0	0	0	4760	884	31	1	474	1	DPPA2	3	109027103	Missense_Mutation	SNP	C	TCGA-HC-A6AO-01A-11D-A30E-08		109027103	88995327	7	9870											
TRPC1	7220	broad.mit.edu	37	chr3	142499733	142499733	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgctaaggatttacttgcAcaagcccggaattctcgtga	10	13	9	9	2	1	1	0	1	1	0	2	3	1	3	1	2	4	2	1	2	4	6			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr3:142499733A>C	ENST00000273482.6	+	5	1111	c.720A>C	c.(718-720)gcA>gcC	p.A240A	TRPC1_ENST00000476941.1_Silent_p.A274A	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	274					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						ATTTACTTGCACAAGCCCGGA	0.378													4	55					0	0	1	0	0	C	142499733	A	C	142499733	2	2	209	1	0	0	0	0	0	0	0	1	16639	146	6	5		5	TRPC1	3	142499733	Silent	SNP	A	TCGA-HC-A6AO-01A-11D-A30E-08	33472630	142499733	55522697	8	9871											
DCHS2	54798	broad.mit.edu	37	chr4	155298459	155298459	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggatccctttccctgtcGatatcttgagaaacacagat	10	12	8	11	1	1	2	0	1	1	2	4	5	3	3	2	1	1	1	2	1	2	3			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr4:155298459G>T	ENST00000357232.3	-	3	371	c.372C>A	c.(370-372)atC>atA	p.I124I	DCHS2_ENST00000339452.1_Silent_p.I730I	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	124	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TTTCCCTGTCGATATCTTGAG	0.403													4	88					0.00024832	0.00026638	1	1	0	T	155298459	G	T	155298459	2	4	209	1	0	0	0	0	0	0	0	1	4311	1048	37	4		4	DCHS2	4	155298459	Silent	SNP	G	TCGA-HC-A6AO-01A-11D-A30E-08		155298459	35855817	9	9872											
PCDHA4	0	broad.mit.edu	37	chr5	140187069	140187069	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggagctgtgccggcggagCgcggagtgcagcatccacct	7	5	17	12	4	0	0	0	0	0	0	1	4	1	3	3	4	5	3	3	4	0	0			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr5:140187069C>T	ENST00000530339.1	+	1	297	c.297C>T	c.(295-297)agC>agT	p.S99S	PCDHA4_ENST00000356878.4_Silent_p.S99S|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.S99S|PCDHA1_ENST00000504120.2_Intron	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCGGCGGAGCGCGGAGTGCA	0.592													8	141					0	0	1	0	0	T	140187069	C	T	140187069	2	4	209	1	0	0	0	0	0	0	0	1	11573	767	27	1		1	PCDHA4	5	140187069	Silent	SNP	C	TCGA-HC-A6AO-01A-11D-A30E-08		140187069	40728191	10	9873											
RUNX2	860	broad.mit.edu	37	chr6	45390466	45390466	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcagcagcagcagcagcaAcagcagcagcagcagcagga	15	0	13	13	0	0	0	0	0	0	0	0	1	0	1	0	1	12	11	0	1	1	0			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr6:45390466A>G	ENST00000371438.1	+	2	553	c.195A>G	c.(193-195)caA>caG	p.Q65Q	RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	65	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcaacagcagcagc	0.731													3	47					0	0	1	0	0	G	45390466	A	G	45390466	2	3	209	1	0	0	0	0	0	0	0	1	13800	40	2	3		3	RUNX2	6	45390466	Silent	SNP	A	TCGA-HC-A6AO-01A-11D-A30E-08		45390466	125724601	11	9874											
MCM3	4172	broad.mit.edu	37	chr6	52148178	52148178	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcactgatcagctcccgaacTttgctctgataaattccctg	9	13	6	13	1	3	2	2	2	1	0	5	3	5	2	2	0	3	2	2	0	3	3			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr6:52148178T>C	ENST00000596288.1	-	2	267	c.240A>G	c.(238-240)aaA>aaG	p.K80K	MCM3_ENST00000229854.7_Silent_p.K35K|MCM3_ENST00000419835.2_Intron	NM_002388.4	NP_002379.3	P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	35					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					GCTCCCGAACTTTGCTCTGAT	0.448													5	79					0	0	1	0	0	C	52148178	T	C	52148178	2	2	209	1	0	0	0	0	0	0	0	1	9437	1606	56	3		3	MCM3	6	52148178	Silent	SNP	T	TCGA-HC-A6AO-01A-11D-A30E-08	6757712	52148178	118966889	12	9875											
PHIP	55023	broad.mit.edu	37	chr6	79692791	79692791	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctttggtggctgcagattaaTtcctgcatctgctgtccagt	6	15	10	10	0	1	1	0	0	1	1	3	1	3	1	2	2	3	4	2	2	1	3			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr6:79692791T>A	ENST00000275034.4	-	23	2748	c.2581A>T	c.(2581-2583)Att>Ttt	p.I861F		NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	861					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TGCAGATTAATTCCTGCATCT	0.363													7	82					0	0	1	0	0	A	79692791	T	A	79692791	3	1	209	1	0	0	0	0	1	0	0	0	11890	1493	52	5	2956	5	PHIP	6	79692791	Missense_Mutation	SNP	T	TCGA-HC-A6AO-01A-11D-A30E-08	27544613	79692791	91422276	13	9876											
ABCA13	154664	broad.mit.edu	37	chr7	48428693	48428693	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtgccccgggagtcaccCtggtgtctgtgaccaaggaa	9	7	14	11	1	2	1	1	1	1	0	2	4	2	3	4	3	1	0	4	3	3	0			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr7:48428693C>T	ENST00000435803.1	+	37	11554	c.11530C>T	c.(11530-11532)Ctg>Ttg	p.L3844L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3844	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GGGAGTCACCCTGGTGTCTGT	0.517													42	58					0	0	1	0	0	T	48428693	C	T	48428693	2	4	209	1	0	0	0	0	0	0	0	1	31	680	24	2		2	ABCA13	7	48428693	Silent	SNP	C	TCGA-HC-A6AO-01A-11D-A30E-08		48428693	110709970	14	9877			1	24		2	2	39	N	T_C	5.769173e-05
ABCA13	154664	broad.mit.edu	37	chr7	48428731	48428731	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatatgagggccacaaggcTgtggtccaagacctcagcct	11	7	12	11	0	1	2	1	1	0	1	2	3	2	2	4	3	1	1	4	3	4	1			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr7:48428731T>A	ENST00000435803.1	+	37	11592	c.11568T>A	c.(11566-11568)gcT>gcA	p.A3856A		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3856	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GCCACAAGGCTGTGGTCCAAG	0.552													41	54					0	0	1	0	0	A	48428731	T	A	48428731	2	1	209	1	0	0	0	0	0	0	0	1	31	1567	55	5		5	ABCA13	7	48428731	Silent	SNP	T	TCGA-HC-A6AO-01A-11D-A30E-08	38	48428731	110709932	15	9878			1	24		2	2	39	N	T_C	5.769173e-05
FOXP2	93986	broad.mit.edu	37	chr7	114269973	114269973	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcaacaacagcagcagcaAcaacaacaacaacagcagca	21	0	6	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	6	0	0	7	0	rs149757187		TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr7:114269973A>G	ENST00000393500.3	+	11	1105	c.285A>G	c.(283-285)caA>caG	p.Q95Q	FOXP2_ENST00000393498.2_Silent_p.Q150Q|FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000350908.4_Silent_p.Q170Q|FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000393494.2_Silent_p.Q170Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393489.3_Silent_p.Q78Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q|FOXP2_ENST00000378237.3_Silent_p.Q170Q|FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000393491.3_Silent_p.Q78Q			O15409	FOXP2_HUMAN	forkhead box P2	170	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.Q195Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcagcagcaacaacaacaac	0.502													3	57					0	0	1	0	0	G	114269973	A	G	114269973	2	3	209	1	0	0	0	0	0	0	0	1	6061	40	2	3		3	FOXP2	7	114269973	Silent	SNP	A	TCGA-HC-A6AO-01A-11D-A30E-08	65841242	114269973	44868690	16	9879											
CSMD3	114788	broad.mit.edu	37	chr8	113256714	113256714	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagaagaagccaggctgacaGgtataaatcagtgtataccc	16	7	10	8	0	1	3	1	1	0	2	1	3	1	3	2	2	2	3	2	2	8	4			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr8:113256714G>A	ENST00000297405.5	-	65	10555	c.10311C>T	c.(10309-10311)acC>acT	p.T3437T	CSMD3_ENST00000455883.2_Silent_p.T3268T|CSMD3_ENST00000352409.3_Silent_p.T3367T|CSMD3_ENST00000343508.3_Silent_p.T3397T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3437	Sushi 28.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAGGCTGACAGGTATAAATCA	0.438										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			90	45					0	0	1	0	0	A	113256714	G	A	113256714	2	1	209	1	0	0	0	0	0	0	0	1	3971	987	35	2		2	CSMD3	8	113256714	Silent	SNP	G	TCGA-HC-A6AO-01A-11D-A30E-08		113256714	33107308	17	9880											
TLE1	7088	broad.mit.edu	37	chr9	84199168	84199168	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccccgagccagtgactatgTacttatcatccacagagatg	11	9	8	13	1	1	2	1	1	0	1	2	4	2	2	4	0	2	1	4	0	3	3			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr9:84199168T>C	ENST00000376499.3	-	20	3322	c.2258A>G	c.(2257-2259)tAc>tGc	p.Y753C		NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	753					negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						AGTGACTATGTACTTATCATC	0.418													13	54					0	0	1	0	0	C	84199168	T	C	84199168	3	2	209	1	0	0	0	0	1	0	0	0	15998	1638	57	3	58	3	TLE1	9	84199168	Missense_Mutation	SNP	T	TCGA-HC-A6AO-01A-11D-A30E-08		84199168	57014263	18	9881											
HABP4	22927	broad.mit.edu	37	chr9	99212613	99212614	+	Frame_Shift_Del	DEL	GA	GA	-																															ccgctggcgccgcgatgcagGagagtttcggctgcgtggtg																										TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr9:99212613_99212614delGA	ENST00000375249.4	+	1	127_128	c.52_53delGA	c.(52-54)gfs	p.E18fs	HABP4_ENST00000375251.3_Frame_Shift_Del_p.E18fs	NM_014282.2	NP_055097.2	Q5JVS0	HABP4_HUMAN	hyaluronan binding protein 4	18					platelet activation|platelet degranulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|extracellular region|nucleus	protein binding			NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)				CGCGATGCAGGAGAGTTTCGGC	0.733													2	4	---	---	---	---						-	99212614	GA	-	99212613	7	5	209	1	0	1	0	1	0	0	0	0	6980	1175	41	0	54	0	HABP4	9	99212613	Frame_Shift_Del	DEL	GA	TCGA-HC-A6AO-01A-11D-A30E-08	15013445	99212613	42000818	19	9882											
ADRA2A	150	broad.mit.edu	37	chr10	112837941	112837941	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgctcatgctgctcaccGtgttcggcaacgtgctcgtc	4	11	11	15	4	2	0	2	0	0	0	5	0	2	0	2	1	5	6	2	1	1	1			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr10:112837941G>A	ENST00000280155.2	+	1	1152	c.187G>A	c.(187-189)Gtg>Atg	p.V63M		NM_000681.3	NP_000672.3	P08913	ADA2A_HUMAN	adrenoceptor alpha 2A	48					actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing|Rho protein signal transduction	basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex	alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding			breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392)	GCTGCTCACCGTGTTCGGCAA	0.697													3	21					0	0	1	0	0	A	112837941	G	A	112837941	3	1	209	1	0	0	0	0	1	0	0	0	336	1145	40	1	189	1	ADRA2A	10	112837941	Missense_Mutation	SNP	G	TCGA-HC-A6AO-01A-11D-A30E-08		112837941	22696806	20	9883											
ACCSL	390110	broad.mit.edu	37	chr11	44069763	44069763	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgtcgctggaggaaaggagGcacactgaggccatctgtga	10	7	15	9	1	1	2	0	2	1	0	2	5	1	5	1	5	0	2	1	5	1	0			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr11:44069763G>A	ENST00000378832.1	+	1	233	c.177G>A	c.(175-177)agG>agA	p.R59R		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	59							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						AGGAAAGGAGGCACACTGAGG	0.587													4	103					0	0	1	0	0	A	44069763	G	A	44069763	2	1	209	1	0	0	0	0	0	0	0	1	134	1194	42	2		2	ACCSL	11	44069763	Silent	SNP	G	TCGA-HC-A6AO-01A-11D-A30E-08		44069763	90936753	21	9884											
NRXN2	9379	broad.mit.edu	37	chr11	64416297	64416297	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtccactgaggccaggcaGccctgaaagccatcccggga	10	4	13	14	1	0	2	0	2	0	0	2	3	2	3	5	4	2	1	5	4	1	0			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr11:64416297G>T	ENST00000265459.6	-	16	3653	c.3192C>A	c.(3190-3192)ggC>ggA	p.G1064G	AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000377551.1_Silent_p.G1064G|NRXN2_ENST00000409571.1_Silent_p.G1057G|NRXN2_ENST00000377559.3_Silent_p.G1024G	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	1064	Laminin G-like 5.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						AGGCCAGGCAGCCCTGAAAGC	0.617													8	118					7.48243e-07	8.17525e-07	1	1	0	T	64416297	G	T	64416297	2	4	209	1	0	0	0	0	0	0	0	1	10714	958	34	4		4	NRXN2	11	64416297	Silent	SNP	G	TCGA-HC-A6AO-01A-11D-A30E-08	20346534	64416297	70590219	22	9885											
OR4D5	219875	broad.mit.edu	37	chr11	123811140	123811140	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatggacaaggccgtctctGtgctatacacaattgtcacc	10	10	8	13	1	2	0	1	0	1	0	3	1	2	1	3	2	2	1	3	2	4	3			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr11:123811140G>A	ENST00000307033.2	+	1	891	c.817G>A	c.(817-819)Gtg>Atg	p.V273M		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GGCCGTCTCTGTGCTATACAC	0.483													53	85					0	0	1	0	0	A	123811140	G	A	123811140	3	1	209	1	0	0	0	0	1	0	0	0	11105	1377	48	2	819	2	OR4D5	11	123811140	Missense_Mutation	SNP	G	TCGA-HC-A6AO-01A-11D-A30E-08	59394843	123811140	11195376	23	9886											
GLB1L2	89944	broad.mit.edu	37	chr11	134240925	134240925	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcaagtctgaaaagcccatCaacatggagaacctgccagt	15	7	8	11	0	3	2	2	1	1	1	3	3	3	2	3	1	4	0	3	1	5	0			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr11:134240925C>T	ENST00000535456.2	+	13	1427	c.1239C>T	c.(1237-1239)atC>atT	p.I413I	GLB1L2_ENST00000389881.3_Silent_p.I413I|GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000339772.7_Silent_p.I413I	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	413					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		AAAAGCCCATCAACATGGAGA	0.572													9	196					0	0	1	0	0	T	134240925	C	T	134240925	2	4	209	1	0	0	0	0	0	0	0	1	6471	816	29	2		2	GLB1L2	11	134240925	Silent	SNP	C	TCGA-HC-A6AO-01A-11D-A30E-08	10429785	134240925	765591	24	9887											
B4GALNT3	283358	broad.mit.edu	37	chr12	667826	667826	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccaccccccagtggcctgaGggtgagccctgctcagactg	6	6	13	16	0	1	3	1	2	0	1	1	3	1	3	6	2	2	1	6	2	0	0			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr12:667826G>T	ENST00000266383.5	+	18	2773	c.2761_splice	c.e18+1	p.E920_splice		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	920						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			AGTGGCCTGAGGGTGAGCCCT	0.567													4	42					0.00116845	0.00118859	1	1	0	T	667826	G	T	667826	5	4	209	1	0	0	0	0	0	0	1	0	1266	1014	35	4	2830	4	B4GALNT3	12	667826	Splice_Site	SNP	G	TCGA-HC-A6AO-01A-11D-A30E-08		667826	133184069	25	9888											
DGKA	1606	broad.mit.edu	37	chr12	56335369	56335369	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaggatggtcctgagataggGtgagcacaggttagggactg	11	8	17	5	0	0	2	0	2	0	1	1	5	1	4	1	5	1	2	1	5	3	2			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr12:56335369G>A	ENST00000331886.5	+	15	1704		c.e15+1		DGKA_ENST00000549079.2_Splice_Site|DGKA_ENST00000551156.1_Splice_Site|DGKA_ENST00000394147.1_Splice_Site	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	CTGAGATAGGGTGAGCACAGG	0.473													33	61					0	0	1	0	0	A	56335369	G	A	56335369	5	1	209	1	0	0	0	0	0	0	1	0	4493	1275	44	2	1305	2	DGKA	12	56335369	Splice_Site	SNP	G	TCGA-HC-A6AO-01A-11D-A30E-08	55667543	56335369	77516526	26	9889											
OASL	8638	broad.mit.edu	37	chr12	121471396	121471396	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gagcccgaggtccagcaggtCctggctttgccacatggttt	6	10	13	12	1	0	0	0	0	0	0	2	2	2	0	4	4	3	3	4	4	0	2			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr12:121471396C>T	ENST00000257570.5	-	2	619	c.349G>A	c.(349-351)Gac>Aac	p.D117N	OASL_ENST00000339275.5_Missense_Mutation_p.D117N	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	117					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCCAGCAGGTCCTGGCTTTGC	0.582													7	124					0	0	1	0	0	T	121471396	C	T	121471396	3	4	209	1	0	0	0	0	1	0	0	0	10850	855	30	2	1215	2	OASL	12	121471396	Missense_Mutation	SNP	C	TCGA-HC-A6AO-01A-11D-A30E-08	65136027	121471396	12380499	27	9890											
WDR66	144406	broad.mit.edu	37	chr12	122441613	122441613	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaaatcactgcagaaatattCgcgactgaaattcttggctt	13	12	8	8	2	2	2	1	1	1	1	3	4	2	2	0	1	1	2	0	1	4	5			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr12:122441613C>T	ENST00000288912.4	+	22	4247	c.3393C>T	c.(3391-3393)ttC>ttT	p.F1131F		NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	1131							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		CAGAAATATTCGCGACTGAAA	0.408													19	31					0	0	1	0	0	T	122441613	C	T	122441613	2	4	209	1	0	0	0	0	0	0	0	1	17377	883	31	1		1	WDR66	12	122441613	Silent	SNP	C	TCGA-HC-A6AO-01A-11D-A30E-08	970217	122441613	11410282	28	9891											
ABCC4	10257	broad.mit.edu	37	chr13	95899954	95899954	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcagcactgaatacataTcatcttcctctaatctccgt	10	13	5	13	1	4	1	1	1	3	0	6	1	5	1	2	1	2	2	2	1	4	4			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr13:95899954T>G	ENST00000376887.4	-	2	242	c.128A>C	c.(127-129)gAt>gCt	p.D43A	ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000431522.1_Missense_Mutation_p.D43A|ABCC4_ENST00000536256.1_Missense_Mutation_p.D43A|ABCC4_ENST00000412704.1_Missense_Mutation_p.D43A	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	43					platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	TGAATACATATCATCTTCCTC	0.458													21	47					0	0	1	0	0	G	95899954	T	G	95899954	3	3	209	1	0	0	0	0	1	0	0	0	55	1435	50	5	4018	5	ABCC4	13	95899954	Missense_Mutation	SNP	T	TCGA-HC-A6AO-01A-11D-A30E-08		95899954	19269924	29	9892											
FOXA1	3169	broad.mit.edu	37	chr14	38061192	38061192	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggctgcttctcgcacttgAagcgcttctggcggcgcaag	5	9	13	14	5	2	1	0	1	2	0	3	1	2	1	1	3	2	5	1	3	2	3			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr14:38061192A>G	ENST00000250448.2	-	2	858	c.797T>C	c.(796-798)tTc>tCc	p.F266S	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Missense_Mutation_p.F233S	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	266					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		CTCGCACTTGAAGCGCTTCTG	0.726													5	21					0	0	1	0	0	G	38061192	A	G	38061192	3	3	209	1	0	0	0	0	1	0	0	0	6022	246	9	3	625	3	FOXA1	14	38061192	Missense_Mutation	SNP	A	TCGA-HC-A6AO-01A-11D-A30E-08		38061192	69288348	30	9893											
KIAA0586	9786	broad.mit.edu	37	chr14	58917402	58917402	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgtttcaagggatgatgAactatcaaagagggaaaatc	16	9	10	6	0	2	3	2	2	0	1	3	5	2	5	1	2	1	1	1	2	6	2			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr14:58917402A>G	ENST00000423743.3	+	9	1193	c.935A>G	c.(934-936)gAa>gGa	p.E312G	KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000354386.6_Missense_Mutation_p.E409G|KIAA0586_ENST00000556134.1_Missense_Mutation_p.E341G|KIAA0586_ENST00000261244.5_Missense_Mutation_p.E356G	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN	KIAA0586	356										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGGGATGATGAACTATCAAAG	0.378													4	17					0	0	1	0	0	G	58917402	A	G	58917402	3	3	209	1	0	0	0	0	1	0	0	0	8228	246	9	3	1097	3	KIAA0586	14	58917402	Missense_Mutation	SNP	A	TCGA-HC-A6AO-01A-11D-A30E-08	20856210	58917402	48432138	31	9894											
UNC13C	440279	broad.mit.edu	37	chr15	54799323	54799323	+	Frame_Shift_Del	DEL	T	T	-																															tttctttcttagactatcaaTaaagtgctgctccagtatgc																										TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr15:54799323delT	ENST00000545554.1	+	22	5310	c.5310delT	c.(5308-5310)aafs	p.N1770fs	UNC13C_ENST00000260323.11_Frame_Shift_Del_p.N1770fs|UNC13C_ENST00000537900.1_Frame_Shift_Del_p.N1768fs			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1770	MHD1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AGACTATCAATAAAGTGCTGC	0.318													2	4	---	---	---	---						-	54799323	T	-	54799323	7	5	209	1	0	1	0	1	0	0	0	0	17046	1403	49	0	5392	0	UNC13C	15	54799323	Frame_Shift_Del	DEL	T	TCGA-HC-A6AO-01A-11D-A30E-08		54799323	47732069	32	9895											
RORA	6095	broad.mit.edu	37	chr15	60919520	60919520	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgacccatgattgaccaCggcactcttgcctcagtctc	9	10	7	15	1	3	3	1	3	2	0	4	3	3	3	3	1	1	1	3	1	1	2			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr15:60919520C>T	ENST00000261523.5	-	1	142	c.54G>A	c.(52-54)ccG>ccA	p.P18P	RP11-219B17.1_ENST00000558235.1_RNA|RP11-219B17.1_ENST00000559824.1_RNA|RORA_ENST00000309157.4_Silent_p.P18P|RORA_ENST00000560004.1_Intron|RORA_ENST00000335670.6_Intron	NM_134260.2	NP_599022.1	P35398	RORA_HUMAN	RAR-related orphan receptor A	18	Modulating.		P -> S (in a colorectal cancer sample; somatic mutation).		positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						TGATTGACCACGGCACTCTTG	0.552													41	68					0	0	1	0	0	T	60919520	C	T	60919520	2	4	209	1	0	0	0	0	0	0	0	1	13580	523	19	1		1	RORA	15	60919520	Silent	SNP	C	TCGA-HC-A6AO-01A-11D-A30E-08	6120197	60919520	41611872	33	9896											
MESP2	145873	broad.mit.edu	37	chr15	90320476	90320476	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaccagtgccctggacggcGgccccagcaactttggagct	7	6	12	16	2	0	0	0	0	0	0	0	2	0	2	5	4	4	2	5	4	1	1			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr15:90320476G>A	ENST00000341735.3	+	1	888	c.888G>A	c.(886-888)gcG>gcA	p.A296A	MESP2_ENST00000558723.1_Intron|MESP2_ENST00000560219.1_Intron	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior 2 homolog (mouse)	296					Notch signaling pathway	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			CCTGGACGGCGGCCCCAGCAA	0.627													4	25					0	0	1	0	0	A	90320476	G	A	90320476	2	1	209	1	0	0	0	0	0	0	0	1	9533	1103	39	1		1	MESP2	15	90320476	Silent	SNP	G	TCGA-HC-A6AO-01A-11D-A30E-08	29400956	90320476	12210916	34	9897											
LRRK1	79705	broad.mit.edu	37	chr15	101592010	101592010	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcccagcacacggacccCagtgagaaatcagaggatgt	12	5	13	11	1	1	2	1	1	0	2	1	5	1	4	3	3	1	1	3	3	1	0			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr15:101592010C>G	ENST00000284395.5	+	25	3925	c.3525C>G	c.(3523-3525)ccC>ccG	p.P1175P	LRRK1_ENST00000388948.3_Silent_p.P1178P|RP11-505E24.2_ENST00000559857.1_RNA			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1178					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ACACGGACCCCAGTGAGAAAT	0.617													4	60					0	0	1	0	0	G	101592010	C	G	101592010	2	3	209	1	0	0	0	0	0	0	0	1	9077	581	21	4		4	LRRK1	15	101592010	Silent	SNP	C	TCGA-HC-A6AO-01A-11D-A30E-08	11271534	101592010	939382	35	9898											
MYH1	4619	broad.mit.edu	37	chr17	10408221	10408221	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcctcggtcttagccagcTcttctttggttttctcaaat	5	18	7	11	1	4	0	1	0	4	0	6	0	4	0	2	2	3	2	2	2	2	6			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr17:10408221T>A	ENST00000226207.5	-	22	2691	c.2597A>T	c.(2596-2598)gAg>gTg	p.E866V	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	866						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTTAGCCAGCTCTTCTTTGGT	0.423													5	111					0	0	1	0	0	A	10408221	T	A	10408221	3	1	209	1	0	0	0	0	1	0	0	0	10077	1551	54	5	3298	5	MYH1	17	10408221	Missense_Mutation	SNP	T	TCGA-HC-A6AO-01A-11D-A30E-08		10408221	70786989	36	9899											
UNC13D	201294	broad.mit.edu	37	chr17	73836863	73836863	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgaagcccatgcagatcCgtgagctccccaagcttctg	8	8	10	15	2	1	2	0	1	1	1	3	3	3	2	4	0	5	3	4	0	2	1			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr17:73836863C>T	ENST00000207549.4	-	8	1042	c.663G>A	c.(661-663)acG>acA	p.T221T	UNC13D_ENST00000587504.1_5'UTR|UNC13D_ENST00000412096.2_Silent_p.T221T	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	221	C2 1.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			CATGCAGATCCGTGAGCTCCC	0.592									Familial Hemophagocytic Lymphohistiocytosis				45	138					0	0	1	0	0	T	73836863	C	T	73836863	2	4	209	1	0	0	0	0	0	0	0	1	17047	639	23	1		1	UNC13D	17	73836863	Silent	SNP	C	TCGA-HC-A6AO-01A-11D-A30E-08	63428642	73836863	7358347	37	9900											
GPR108	56927	broad.mit.edu	37	chr19	6734270	6734270	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcttccgggaggagcccGggaaagataaacaacgtctt	11	7	14	9	3	1	1	0	0	1	1	2	4	2	4	2	4	4	1	2	4	4	3			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr19:6734270G>A	ENST00000264080.7	-	5	449	c.423C>T	c.(421-423)ccC>ccT	p.P141P	GPR108_ENST00000430424.4_5'UTR	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	141						integral to membrane				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						GGAGGAGCCCGGGAAAGATAA	0.642											OREG0025092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	41					0	0	1	0	0	A	6734270	G	A	6734270	2	1	209	1	0	0	0	0	0	0	0	1	6664	1103	39	1		1	GPR108	19	6734270	Silent	SNP	G	TCGA-HC-A6AO-01A-11D-A30E-08		6734270	52394713	38	9901											
ZNF99	7652	broad.mit.edu	37	chr19	22939830	22939830	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctaaaagctttgccacatTcttcacatttgtacgatttc	10	16	5	10	1	2	0	1	0	1	0	3	1	2	0	1	0	4	3	1	0	3	7			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr19:22939830T>C	ENST00000397104.3	-	6	2500	c.2501A>G	c.(2500-2502)gAa>gGa	p.E834G						zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TTTGCCACATTCTTCACATTT	0.358													10	55					0	0	1	0	0	C	22939830	T	C	22939830	3	2	209	1	0	0	0	0	1	0	0	0	18246	1783	62	3	619	3	ZNF99	19	22939830	Missense_Mutation	SNP	T	TCGA-HC-A6AO-01A-11D-A30E-08	16205560	22939830	36189153	39	9902											
ZNF536	9745	broad.mit.edu	37	chr19	30935519	30935519	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagttccgctgcgaggtgtgCggtcaggtgttcagccaggc	5	9	17	10	3	2	0	2	0	0	0	3	2	3	0	2	4	3	3	2	4	0	2			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr19:30935519C>T	ENST00000355537.3	+	2	1197	c.1050C>T	c.(1048-1050)tgC>tgT	p.C350C		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	350					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCGAGGTGTGCGGTCAGGTGT	0.657													10	210					0	0	1	0	0	T	30935519	C	T	30935519	2	4	209	1	0	0	0	0	0	0	0	1	18031	776	27	1		1	ZNF536	19	30935519	Silent	SNP	C	TCGA-HC-A6AO-01A-11D-A30E-08	7995689	30935519	28193464	40	9903											
EML2	24139	broad.mit.edu	37	chr19	46119742	46119742	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcacttgcccaggcggctgaCcttgcggccgccctggtcca	4	7	13	17	3	0	1	0	1	0	0	1	1	1	1	5	4	2	2	5	4	0	2			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr19:46119742C>A	ENST00000536630.1	-	18	2065	c.1927G>T	c.(1927-1929)Gtc>Ttc	p.V643F	EML2_ENST00000587152.1_Missense_Mutation_p.V697F|EML2_ENST00000245925.3_Missense_Mutation_p.V496F|EML2_ENST00000589876.1_Missense_Mutation_p.V496F	NM_001193269.1	NP_001180198.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	496					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		AGGCGGCTGACCTTGCGGCCG	0.672													29	49					8.53417e-09	9.50031e-09	1	1	0	A	46119742	C	A	46119742	3	1	209	1	0	0	0	0	1	0	0	0	5125	507	18	4	483	4	EML2	19	46119742	Missense_Mutation	SNP	C	TCGA-HC-A6AO-01A-11D-A30E-08	15184223	46119742	13009241	41	9904											
ZNF337	26152	broad.mit.edu	37	chr20	25666234	25666234	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctggccggcgtcttctctcTtctccccagggcacttcccc	2	11	8	20	2	4	0	0	0	4	0	7	0	5	0	6	3	0	1	6	3	0	3			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr20:25666234T>G	ENST00000376436.1	-	3	758	c.219A>C	c.(217-219)gaA>gaC	p.E73D	ZNF337_ENST00000481610.1_5'UTR|ZNF337_ENST00000538750.1_Intron|ZNF337_ENST00000252979.5_Missense_Mutation_p.E73D					zinc finger protein 337											breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTCTTCTCTCTTCTCCCCAGG	0.572													86	142					0	0	1	0	0	G	25666234	T	G	25666234	3	3	209	1	0	0	0	0	1	0	0	0	17910	1606	56	5	2044	5	ZNF337	20	25666234	Missense_Mutation	SNP	T	TCGA-HC-A6AO-01A-11D-A30E-08		25666234	37359286	42	9905											
BPI	671	broad.mit.edu	37	chr20	36952275	36952275	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gttgcctctacccccaggggGagttttacagtgagaaccac	9	9	11	12	0	1	1	0	1	1	1	1	3	1	2	4	2	4	2	4	2	3	4			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr20:36952275G>T	ENST00000262865.4	+	8	861	c.772G>T	c.(772-774)Gag>Tag	p.E258*	BPI_ENST00000489102.1_Intron|CTD-2308N23.2_ENST00000437016.1_RNA	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	258					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				CCCCCAGGGGGAGTTTTACAG	0.498													5	51					0.000602214	0.000634476	1	1	0	T	36952275	G	T	36952275	4	4	209	1	0	0	0	0	0	1	0	0	1492	1175	41	4	802	4	BPI	20	36952275	Nonsense_Mutation	SNP	G	TCGA-HC-A6AO-01A-11D-A30E-08	11286041	36952275	26073245	43	9906											
BCAS1	8537	broad.mit.edu	37	chr20	52601966	52601966	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaattcttgccagccccttGggtctcctgggatgtaaagt	7	12	12	10	0	2	0	0	0	2	0	3	2	2	2	4	3	2	1	4	3	3	4			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr20:52601966G>T	ENST00000395961.3	-	7	1166	c.1000C>A	c.(1000-1002)Caa>Aaa	p.Q334K	BCAS1_ENST00000434986.2_Missense_Mutation_p.Q92K|BCAS1_ENST00000371435.2_Missense_Mutation_p.Q334K|BCAS1_ENST00000371440.3_Missense_Mutation_p.Q379K	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	334						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			CCAGCCCCTTGGGTCTCCTGG	0.502													89	157					5.60141e-34	6.60966e-34	1	1	0	T	52601966	G	T	52601966	3	4	209	1	0	0	0	0	1	0	0	0	1348	1357	47	4	778	4	BCAS1	20	52601966	Missense_Mutation	SNP	G	TCGA-HC-A6AO-01A-11D-A30E-08	15649691	52601966	10423554	44	9907											
TUBGCP6	85378	broad.mit.edu	37	chr22	50682160	50682160	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cattctaccttaatagccagCccagagaggtccgcattgtc	10	10	8	13	1	1	1	0	0	1	1	3	2	2	1	4	1	3	1	4	1	3	5			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chr22:50682160C>A	ENST00000439308.2	-	1	1221	c.729G>T	c.(727-729)ggG>ggT	p.G243G	TUBGCP6_ENST00000248846.5_Silent_p.G243G	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	243					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TAATAGCCAGCCCAGAGAGGT	0.527													8	52					0.307466	0.307466	1	1	0	A	50682160	C	A	50682160	2	1	209	1	0	0	0	0	0	0	0	1	16832	726	26	4		4	TUBGCP6	22	50682160	Silent	SNP	C	TCGA-HC-A6AO-01A-11D-A30E-08		50682160	622406	45	9908											
PABPC5	140886	broad.mit.edu	37	chrX	90691469	90691469	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggttaaaagaaaaaagtcGgcccccaggggtgcctatct	13	7	12	9	1	1	1	0	0	1	1	2	2	1	1	3	4	1	1	3	4	6	2			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chrX:90691469G>A	ENST00000312600.3	+	2	1107	c.893G>A	c.(892-894)cGg>cAg	p.R298Q	PABPC5_ENST00000373105.1_Missense_Mutation_p.R134Q	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	298						cytoplasm	nucleotide binding|RNA binding			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						GAAAAAAGTCGGCCCCCAGGG	0.453													4	31					0	0	1	0	0	A	90691469	G	A	90691469	3	1	209	1	0	0	0	0	1	0	0	0	11414	1116	39	1	895	1	PABPC5	23	90691469	Missense_Mutation	SNP	G	TCGA-HC-A6AO-01A-11D-A30E-08		90691469	64579091	46	9909											
MAGEA4	4103	broad.mit.edu	37	chrX	151092295	151092295	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtccctggcaccctggaggaAgtgcctgctgctgagtcagc	6	8	14	13	0	1	1	1	1	0	0	2	3	2	3	3	3	4	3	3	3	1	0			TCGA-HC-A6AO-01A-11D-A30E-08	TCGA-HC-A6AO-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78928ca5-e8a3-4c7c-a8ca-a0e5801870f9	300a9b2e-8abd-4a19-a4fc-b5e4b266e1df	g.chrX:151092295A>G	ENST00000370340.3	+	3	426	c.159A>G	c.(157-159)gaA>gaG	p.E53E	MAGEA4_ENST00000370337.4_Silent_p.E53E|MAGEA4_ENST00000393920.1_Silent_p.E53E|MAGEA4_ENST00000393921.1_Silent_p.E53E|MAGEA4_ENST00000360243.2_Silent_p.E53E|MAGEA4_ENST00000276344.2_Silent_p.E53E|MAGEA4_ENST00000370335.1_Silent_p.E53E			P43358	MAGA4_HUMAN	melanoma antigen family A, 4	53				E -> K (in Ref. 3; BAA06841).			protein binding			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CCCTGGAGGAAGTGCCTGCTG	0.622													34	44					0	0	1	0	0	G	151092295	A	G	151092295	2	3	209	1	0	0	0	0	0	0	0	1	9216	69	3	3		3	MAGEA4	23	151092295	Silent	SNP	A	TCGA-HC-A6AO-01A-11D-A30E-08	60400826	151092295	4178265	47	9910											
FLG	2312	broad.mit.edu	37	chr1	152281936	152281936	+	Frame_Shift_Del	DEL	C	C	-																															gtccacgaatggtgtcctgaCcctcttgggacgctgagtgc																										TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr1:152281936delC	ENST00000368799.1	-	3	5461	c.5426delG	c.(5425-5427)gtfs	p.G1809fs	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1809	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGTGTCCTGACCCTCTTGGGA	0.597									Ichthyosis				136	682	---	---	---	---						-	152281936	C	-	152281936	7	5	210	1	0	1	0	1	0	0	0	0	5955	507	18	0	6763	0	FLG	1	152281936	Frame_Shift_Del	DEL	C	TCGA-HC-A6AP-01A-11D-A30E-08		152281936	96968685	1	9911											
CD8B	926	broad.mit.edu	37	chr2	87085254	87085254	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagaagtagatgccactgTcttccggcttcacgcttgtg	7	12	11	11	2	2	2	1	0	1	2	3	2	3	2	2	1	2	4	2	1	2	4			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr2:87085254T>C	ENST00000390655.6	-	2	387	c.329A>G	c.(328-330)gAc>gGc	p.D110G	CD8B_ENST00000349455.3_Missense_Mutation_p.D110G|CD8B_ENST00000331469.2_Missense_Mutation_p.D110G|CD8B_ENST00000393761.2_Missense_Mutation_p.D110G|CD8B_ENST00000431506.2_Intron|CD8B_ENST00000393759.2_Missense_Mutation_p.D110G	NM_004931.4	NP_004922.1	P10966	CD8B_HUMAN	CD8b molecule	110	Ig-like V-type.				immune response|regulation of defense response to virus by virus|regulation of immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction	early endosome|extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						GATGCCACTGTCTTCCGGCTT	0.532													11	151					0	0	1	0	0	C	87085254	T	C	87085254	3	2	210	1	0	0	0	0	1	0	0	0	3067	1667	58	3	597	3	CD8B	2	87085254	Missense_Mutation	SNP	T	TCGA-HC-A6AP-01A-11D-A30E-08		87085254	156114119	2	9912											
TTN	7273	broad.mit.edu	37	chr2	179398132	179398132	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaatgttaggcccgagggAcagtggctgaccatctttct	8	12	11	10	1	3	1	1	1	2	0	3	3	3	2	2	3	0	2	2	3	2	3			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr2:179398132A>G	ENST00000589042.1	-	358	103434	c.103210T>C	c.(103210-103212)Tcc>Ccc	p.S34404P	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S32763P|TTN_ENST00000359218.5_Missense_Mutation_p.S25464P|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S31836P|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S25531P|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S25339P|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000585487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32763							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGCCCGAGGGACAGTGGCTGA	0.463													18	77					0	0	1	0	0	G	179398132	A	G	179398132	3	3	210	1	0	0	0	0	1	0	0	0	16797	275	10	3	4789	3	TTN	2	179398132	Missense_Mutation	SNP	A	TCGA-HC-A6AP-01A-11D-A30E-08	92312878	179398132	63801241	3	9913											
STK25	10494	broad.mit.edu	37	chr2	242435894	242435894	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggccaggctgaaggcgttcTccagctcctccagcgcaccc	6	6	11	18	3	1	1	0	1	1	0	4	1	3	1	5	3	2	4	5	3	1	1			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr2:242435894T>G	ENST00000316586.4	-	11	1509	c.1160A>C	c.(1159-1161)gAg>gCg	p.E387A	STK25_ENST00000403346.3_Missense_Mutation_p.E387A|STK25_ENST00000478403.1_5'UTR|STK25_ENST00000405585.1_Missense_Mutation_p.E310A|STK25_ENST00000543554.1_Missense_Mutation_p.E293A|STK25_ENST00000535007.1_Missense_Mutation_p.E293A|STK25_ENST00000405883.3_Missense_Mutation_p.E310A|STK25_ENST00000401869.1_Missense_Mutation_p.E387A	NM_001271977.1|NM_001271978.1	NP_001258906.1|NP_001258907.1	O00506	STK25_HUMAN	serine/threonine kinase 25	387					response to oxidative stress|signal transduction	Golgi apparatus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		GAAGGCGTTCTCCAGCTCCTC	0.652													6	70					0	0	1	0	0	G	242435894	T	G	242435894	3	3	210	1	0	0	0	0	1	0	0	0	15350	1551	54	5	128	5	STK25	2	242435894	Missense_Mutation	SNP	T	TCGA-HC-A6AP-01A-11D-A30E-08	63037762	242435894	763479	4	9914											
SCN10A	6336	broad.mit.edu	37	chr3	38753746	38753746	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtggagttttgaatcttgCagtcagacttgttattcaca	10	15	9	7	0	3	2	2	1	1	1	3	3	3	3	0	1	1	3	0	1	2	6			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr3:38753746C>T	ENST00000449082.2	-	22	3994	c.3995G>A	c.(3994-3996)tGc>tAc	p.C1332Y		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1332					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TTGAATCTTGCAGTCAGACTT	0.448													13	140					0	0	1	0	0	T	38753746	C	T	38753746	3	4	210	1	0	0	0	0	1	0	0	0	13966	710	25	2	1899	2	SCN10A	3	38753746	Missense_Mutation	SNP	C	TCGA-HC-A6AP-01A-11D-A30E-08		38753746	159268684	5	9915											
SETD2	29072	broad.mit.edu	37	chr3	47125542	47125542	+	Frame_Shift_Del	DEL	C	C	-																															agggacattttctaattgatCaagatcctctttgccatcct																										TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr3:47125542delC	ENST00000409792.3	-	12	5770	c.5728delG	c.(5728-5730)atfs	p.D1910fs		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1910					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TCTAATTGATCAAGATCCTCT	0.418			"N, F, S, Mis"		clear cell renal carcinoma								7	330	---	---	---	---						-	47125542	C	-	47125542	7	5	210	1	0	1	0	1	0	0	0	0	14185	826	29	0	2006	0	SETD2	3	47125542	Frame_Shift_Del	DEL	C	TCGA-HC-A6AP-01A-11D-A30E-08	8371796	47125542	150896888	6	9916											
TRAT1	50852	broad.mit.edu	37	chr3	108572512	108572512	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgcctcacttgatcacagcGttaaggggaagcgtagaaag	13	7	12	9	3	2	2	2	1	0	1	2	3	2	3	1	2	2	2	1	2	4	3	rs149418284		TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr3:108572512G>A	ENST00000295756.6	+	6	579	c.349G>A	c.(349-351)Gtt>Att	p.V117I	TRAT1_ENST00000426646.1_Missense_Mutation_p.V80I	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	117					cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						TGATCACAGCGTTAAGGGGAA	0.418													5	98					0	0	1	0	0	A	108572512	G	A	108572512	3	1	210	1	0	0	0	0	1	0	0	0	16527	1145	40	1	371	1	TRAT1	3	108572512	Missense_Mutation	SNP	G	TCGA-HC-A6AP-01A-11D-A30E-08	61446970	108572512	89449918	7	9917											
ALDH1L1	10840	broad.mit.edu	37	chr3	125844490	125844491	+	Frame_Shift_Ins	INS	-	-	A																															gatcaccactgtgttcccggINScagccaggcaggcagctgtc																										TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr3:125844490_125844491insA	ENST00000393434.2	-	15	2117_2118	c.1768_1769insT	c.(1768-1770)cggfs	p.R590fs	ALDH1L1_ENST00000452905.2_Frame_Shift_Ins_p.R489fs|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000472186.1_Frame_Shift_Ins_p.R590fs|ALDH1L1_ENST00000273450.3_Frame_Shift_Ins_p.R600fs	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	590	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TGTGTTCCCGGCAGCCAGGCAG	0.569													25	122	---	---	---	---						A	125844491	-	A	125844490	7	5	210	1	0	1	1	0	0	0	0	0	491	1203	42	0	975	0	ALDH1L1	3	125844490	Frame_Shift_Ins	INS	-	TCGA-HC-A6AP-01A-11D-A30E-08	17271978	125844490	72177940	8	9918											
TP63	8626	broad.mit.edu	37	chr3	189585680	189585680	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gtgtaacagcagttgtgttgGagggatgaaccgccgtccaa	10	9	14	8	2	0	1	0	1	0	0	1	3	1	3	3	2	3	4	3	2	3	3			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr3:189585680G>C	ENST00000264731.3	+	7	1030	c.941G>C	c.(940-942)gGa>gCa	p.G314A	TP63_ENST00000320472.5_Missense_Mutation_p.G314A|TP63_ENST00000449992.1_Missense_Mutation_p.G135A|TP63_ENST00000437221.1_Missense_Mutation_p.G220A|TP63_ENST00000392463.2_Missense_Mutation_p.G220A|TP63_ENST00000392460.3_Missense_Mutation_p.G314A|TP63_ENST00000382063.4_Missense_Mutation_p.G229A|TP63_ENST00000354600.5_Missense_Mutation_p.G220A|TP63_ENST00000418709.2_Missense_Mutation_p.G314A|TP63_ENST00000440651.2_Missense_Mutation_p.G314A|TP63_ENST00000392461.3_Missense_Mutation_p.G220A|TP63_ENST00000456148.1_Missense_Mutation_p.G220A	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	314					anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		AGTTGTGTTGGAGGGATGAAC	0.393										HNSCC(45;0.13)			5	28					0	0	1	0	0	C	189585680	G	C	189585680	3	2	210	1	0	0	0	0	1	0	0	0	16453	1174	41	4	1013	4	TP63	3	189585680	Missense_Mutation	SNP	G	TCGA-HC-A6AP-01A-11D-A30E-08	63741190	189585680	8436750	9	9919											
ODAM	54959	broad.mit.edu	37	chr4	71063769	71063769	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggactgctcccaaatcaGatacccttaacaggagaggc	12	7	10	12	0	1	2	1	0	0	2	2	4	2	3	2	3	3	2	2	3	3	2			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr4:71063769G>T	ENST00000396094.2	+	4	318	c.270G>T	c.(268-270)caG>caT	p.Q90H		NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated	90	Gln-rich.				biomineral tissue development|odontogenesis of dentine-containing tooth	fibril				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						TCCCAAATCAGATACCCTTAA	0.517													37	206					7.63091e-17	8.64837e-17	1	1	0	T	71063769	G	T	71063769	3	4	210	1	0	0	0	0	1	0	0	0	10872	933	33	4	284	4	ODAM	4	71063769	Missense_Mutation	SNP	G	TCGA-HC-A6AP-01A-11D-A30E-08		71063769	120090507	10	9920											
BMP2K	55589	broad.mit.edu	37	chr4	79792085	79792085	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcatcgtcatcctcaccaGcagcagcagcagcagcagca	12	4	9	16	1	2	0	2	0	0	0	4	0	3	0	2	0	8	8	2	0	0	0	rs71828885		TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr4:79792085G>C	ENST00000335016.5	+	11	1546	c.1380G>C	c.(1378-1380)caG>caC	p.Q460H	BMP2K_ENST00000502871.1_Missense_Mutation_p.Q460H	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	460	Gln/His-rich.					nucleus	ATP binding|protein serine/threonine kinase activity	p.Q460H(3)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						ATCCTCACcagcagcagcagc	0.577													4	64					0	0	1	0	0	C	79792085	G	C	79792085	3	2	210	1	0	0	0	0	1	0	0	0	1459	962	34	4	1422	4	BMP2K	4	79792085	Missense_Mutation	SNP	G	TCGA-HC-A6AP-01A-11D-A30E-08	8728316	79792085	111362191	11	9921											
SEC24D	9871	broad.mit.edu	37	chr4	119661874	119661874	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgtgcttgaactccacggTcactgccttgtcacaatcga	9	11	8	13	3	2	1	2	1	0	0	5	2	3	1	2	1	3	1	2	1	2	2			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr4:119661874T>G	ENST00000379735.5	-	17	2456	c.2185A>C	c.(2185-2187)Acc>Ccc	p.T729P	SEC24D_ENST00000280551.6_Missense_Mutation_p.T728P|SEC24D_ENST00000511481.1_Missense_Mutation_p.T359P|SEC24D_ENST00000429811.2_Missense_Mutation_p.T284P|SEC24D_ENST00000505134.1_5'UTR|SEC24D_ENST00000419654.2_Missense_Mutation_p.T284P	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D	728					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						AACTCCACGGTCACTGCCTTG	0.433													12	92					0	0	1	0	0	G	119661874	T	G	119661874	3	3	210	1	0	0	0	0	1	0	0	0	14051	1667	58	5	944	5	SEC24D	4	119661874	Missense_Mutation	SNP	T	TCGA-HC-A6AP-01A-11D-A30E-08	39869789	119661874	71492402	12	9922											
GUCY1A3	2982	broad.mit.edu	37	chr4	156643250	156643250	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgttggagttaaaatgcccCgttactgtctttttggaaac	9	15	9	8	2	1	0	0	0	1	0	2	2	1	2	2	2	3	3	2	2	4	5			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr4:156643250C>T	ENST00000296518.7	+	9	1986	c.1777C>T	c.(1777-1779)Cgt>Tgt	p.R593C	GUCY1A3_ENST00000511108.1_Missense_Mutation_p.R593C|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.R593C|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.R593C|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.R335C|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.R593C|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.R593C			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	593	Guanylate cyclase.				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	p.R593S(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TAAAATGCCCCGTTACTGTCT	0.423													5	203					0	0	1	0	0	T	156643250	C	T	156643250	3	4	210	1	0	0	0	0	1	0	0	0	6935	652	23	1	1818	1	GUCY1A3	4	156643250	Missense_Mutation	SNP	C	TCGA-HC-A6AP-01A-11D-A30E-08	36981376	156643250	34511026	13	9923											
KIAA0947	23379	broad.mit.edu	37	chr5	5462719	5462719	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctcccaaagtagcctgcCtggtaccttacattgttaca	10	12	6	13	0	0	0	0	0	0	0	1	0	1	0	5	1	6	3	5	1	6	6			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr5:5462719C>G	ENST00000296564.7	+	13	3494	c.3272C>G	c.(3271-3273)cCt>cGt	p.P1091R		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	1091										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AGTAGCCTGCCTGGTACCTTA	0.498													8	99					0	0	1	0	0	G	5462719	C	G	5462719	3	3	210	1	0	0	0	0	1	0	0	0	8244	681	24	4	3322	4	KIAA0947	5	5462719	Missense_Mutation	SNP	C	TCGA-HC-A6AP-01A-11D-A30E-08		5462719	175452541	14	9924											
TNIP1	10318	broad.mit.edu	37	chr5	150422163	150422163	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcaaagtcacgctgcttctGctcccgctcggcctccaggt	5	10	10	16	3	3	0	2	0	1	0	6	0	5	0	3	2	2	4	3	2	1	1			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr5:150422163G>A	ENST00000389378.2	-	11	1660	c.1072C>T	c.(1072-1074)Cag>Tag	p.Q358*	TNIP1_ENST00000518977.1_Nonsense_Mutation_p.Q358*|TNIP1_ENST00000523338.1_Nonsense_Mutation_p.Q358*|TNIP1_ENST00000523200.1_Nonsense_Mutation_p.Q358*|TNIP1_ENST00000524280.1_Nonsense_Mutation_p.Q358*|TNIP1_ENST00000315050.7_Nonsense_Mutation_p.Q358*|TNIP1_ENST00000522226.1_Nonsense_Mutation_p.Q358*|TNIP1_ENST00000521591.1_Nonsense_Mutation_p.Q358*|TNIP1_ENST00000520931.1_Nonsense_Mutation_p.Q305*|TNIP1_ENST00000521423.1_Intron	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	358	Interacts with Nef.				defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGCTGCTTCTGCTCCCGCTCG	0.577													4	58					0	0	1	0	0	A	150422163	G	A	150422163	4	1	210	1	0	0	0	0	0	1	0	0	16374	1328	46	2	870	2	TNIP1	5	150422163	Nonsense_Mutation	SNP	G	TCGA-HC-A6AP-01A-11D-A30E-08	144959444	150422163	30493097	15	9925											
RREB1	6239	broad.mit.edu	37	chr6	7230611	7230611	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgtgccggctgtgcggcgAggacctcaagcactatcgtg	6	8	15	12	5	1	0	1	0	0	0	2	2	1	1	2	3	3	2	2	3	2	1			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr6:7230611A>G	ENST00000379938.2	+	10	2816	c.2279A>G	c.(2278-2280)gAg>gGg	p.E760G	RREB1_ENST00000379933.3_Missense_Mutation_p.E760G|RREB1_ENST00000334984.6_Missense_Mutation_p.E760G|RREB1_ENST00000349384.6_Missense_Mutation_p.E760G	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	760					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CTGTGCGGCGAGGACCTCAAG	0.672													5	74					0	0	1	0	0	G	7230611	A	G	7230611	3	3	210	1	0	0	0	0	1	0	0	0	13731	304	11	3	2305	3	RREB1	6	7230611	Missense_Mutation	SNP	A	TCGA-HC-A6AP-01A-11D-A30E-08		7230611	163884456	16	9926											
CDKN1A	1026	broad.mit.edu	37	chr6	36651975	36651975	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acagcgagcagctgagccgcGactgtgatgcgctaatggcg	9	6	15	11	5	0	2	0	2	0	0	0	4	0	2	1	1	5	3	1	1	1	1			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr6:36651975G>A	ENST00000405375.1	+	2	332	c.97G>A	c.(97-99)Gac>Aac	p.D33N	CDKN1A_ENST00000244741.5_Missense_Mutation_p.D33N|CDKN1A_ENST00000373711.2_Missense_Mutation_p.D33N|CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000448526.2_Missense_Mutation_p.D67N	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	33					cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						GCTGAGCCGCGACTGTGATGC	0.647													4	62					0	0	1	0	0	A	36651975	G	A	36651975	3	1	210	1	0	0	0	0	1	0	0	0	3180	1058	37	1	99	1	CDKN1A	6	36651975	Missense_Mutation	SNP	G	TCGA-HC-A6AP-01A-11D-A30E-08	29421364	36651975	134463092	17	9927											
ENPP5	59084	broad.mit.edu	37	chr6	46133138	46133138	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actcacacagaaagtcatctGacttattctgtaaaatgtgc	14	12	6	9	0	4	2	2	1	2	1	4	2	4	2	0	0	1	1	0	0	4	3			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr6:46133138G>A	ENST00000371383.2	-	4	1252	c.992C>T	c.(991-993)tCa>tTa	p.S331L	ENPP5_ENST00000492313.1_5'UTR|ENPP5_ENST00000230565.3_Missense_Mutation_p.S331L			Q9UJA9	ENPP5_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)	331						extracellular region|integral to membrane	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						AAAGTCATCTGACTTATTCTG	0.348													21	99					0	0	1	0	0	A	46133138	G	A	46133138	3	1	210	1	0	0	0	0	1	0	0	0	5161	1294	45	2	449	2	ENPP5	6	46133138	Missense_Mutation	SNP	G	TCGA-HC-A6AP-01A-11D-A30E-08	9481163	46133138	124981929	18	9928											
CLVS2	134829	broad.mit.edu	37	chr6	123319141	123319141	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggccttccgcctcctggcGcagtactttgagtaccggca	6	9	12	14	3	0	1	0	1	0	0	2	2	2	1	5	3	2	4	5	3	2	4			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr6:123319141G>A	ENST00000275162.4	+	2	1554	c.219G>A	c.(217-219)gcG>gcA	p.A73A	CLVS2_ENST00000368438.1_Intron	NM_001010852.2	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	73					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	p.A73A(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						GCCTCCTGGCGCAGTACTTTG	0.562													37	153					0	0	1	0	0	A	123319141	G	A	123319141	2	1	210	1	0	0	0	0	0	0	0	1	3595	1074	38	1		1	CLVS2	6	123319141	Silent	SNP	G	TCGA-HC-A6AP-01A-11D-A30E-08	77186003	123319141	47795926	19	9929											
PLEKHG1	57480	broad.mit.edu	37	chr6	151140892	151140892	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagaaggttctgctccatatCggctgagaagaaaatctggt	13	10	11	7	1	2	3	0	1	2	3	4	4	3	3	1	3	1	3	1	3	6	2	rs144621364	byFrequency	TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr6:151140892C>T	ENST00000367328.1	+	13	1702	c.1390C>T	c.(1390-1392)Cgg>Tgg	p.R464W	PLEKHG1_ENST00000358517.2_Missense_Mutation_p.R464W	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	464					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		TGCTCCATATCGGCTGAGAAG	0.433													8	171					0	0	1	0	0	T	151140892	C	T	151140892	3	4	210	1	0	0	0	0	1	0	0	0	12116	875	31	1	1432	1	PLEKHG1	6	151140892	Missense_Mutation	SNP	C	TCGA-HC-A6AP-01A-11D-A30E-08	27821751	151140892	19974175	20	9930											
SORCS1	114815	broad.mit.edu	37	chr10	108431016	108431016	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatcaaaatcagcctcagtgCagacacagggttcagattcc	14	8	8	11	0	4	2	4	0	0	2	5	2	5	2	2	1	2	2	2	1	3	2			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr10:108431016C>A	ENST00000263054.6	-	16	2175	c.2168G>T	c.(2167-2169)tGc>tTc	p.C723F	SORCS1_ENST00000344440.6_Missense_Mutation_p.C723F|SORCS1_ENST00000369698.1_Missense_Mutation_p.C258F	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	723						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		AGCCTCAGTGCAGACACAGGG	0.418													11	78					3.86212e-05	4.1035e-05	1	1	0	A	108431016	C	A	108431016	3	1	210	1	0	0	0	0	1	0	0	0	14984	710	25	4	1616	4	SORCS1	10	108431016	Missense_Mutation	SNP	C	TCGA-HC-A6AP-01A-11D-A30E-08		108431016	27103731	21	9931											
MUC5B	727897	broad.mit.edu	37	chr11	1269965	1269965	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcactgatcaccacggccaCtacgatcacggccaccggct	10	6	8	17	4	3	1	3	1	0	0	3	2	3	1	4	3	1	1	4	3	1	1			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr11:1269965C>A	ENST00000447027.1	+	31	11922	c.11864C>A	c.(11863-11865)aCt>aAt	p.T3955N	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.T3952N			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3952	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		accacggccactacgatcacg	0.617													3	13					0.004672	0.00486269	1	1	0	A	1269965	C	A	1269965	3	1	210	1	0	0	0	0	1	0	0	0	10027	565	20	4	11986	4	MUC5B	11	1269965	Missense_Mutation	SNP	C	TCGA-HC-A6AP-01A-11D-A30E-08		1269965	133736551	22	9932											
OR4A16	81327	broad.mit.edu	37	chr11	55111206	55111206	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttattgaccactctgtctGtgacatgtacccattgttgg	7	16	9	9	0	2	2	0	2	2	0	2	2	2	2	2	1	1	3	2	1	2	5			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr11:55111206G>A	ENST00000314721.2	+	1	580	c.530G>A	c.(529-531)tGt>tAt	p.C177Y		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						CACTCTGTCTGTGACATGTAC	0.443													9	166					0	0	1	0	0	A	55111206	G	A	55111206	3	1	210	1	0	0	0	0	1	0	0	0	11089	1377	48	2	532	2	OR4A16	11	55111206	Missense_Mutation	SNP	G	TCGA-HC-A6AP-01A-11D-A30E-08	53841241	55111206	79895310	23	9933											
NOX4	50507	broad.mit.edu	37	chr11	89165957	89165957	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattctgacacttaccttatTgcatatgtagaggctgtgat	10	15	9	7	0	1	3	0	2	1	1	1	4	1	3	1	1	2	3	1	1	4	6			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr11:89165957T>G	ENST00000535633.1	-	7	781	c.471A>C	c.(469-471)gcA>gcC	p.A157A	NOX4_ENST00000528341.1_Silent_p.A156A|NOX4_ENST00000532825.1_Silent_p.A157A|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000525196.1_Silent_p.A181A|NOX4_ENST00000527626.1_Silent_p.A15A|NOX4_ENST00000527956.1_Silent_p.A157A|NOX4_ENST00000343727.5_Silent_p.A157A|NOX4_ENST00000542487.1_Silent_p.A157A|NOX4_ENST00000263317.4_Silent_p.A181A|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000413594.2_Silent_p.A202A|NOX4_ENST00000424319.1_Silent_p.A157A|NOX4_ENST00000534731.1_Silent_p.A181A	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	181	Ferric oxidoreductase.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				CTTACCTTATTGCATATGTAG	0.368													9	34					0	0	1	0	0	G	89165957	T	G	89165957	2	3	210	1	0	0	0	0	0	0	0	1	10605	1799	63	5		5	NOX4	11	89165957	Silent	SNP	T	TCGA-HC-A6AP-01A-11D-A30E-08	34054751	89165957	45840559	24	9934											
DSCAML1	57453	broad.mit.edu	37	chr11	117374656	117374656	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcctcttctaggacgtggcGgatcagcagcgagctgttgg	6	10	15	10	3	3	0	1	0	2	0	4	3	4	2	1	4	3	3	1	4	1	3			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr11:117374656G>A	ENST00000321322.6	-	11	2444	c.2443C>T	c.(2443-2445)Cgc>Tgc	p.R815C	DSCAML1_ENST00000527706.1_Missense_Mutation_p.R545C	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	755	Ig-like C2-type 9.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		AGGACGTGGCGGATCAGCAGC	0.607													7	124					0	0	1	0	0	A	117374656	G	A	117374656	3	1	210	1	0	0	0	0	1	0	0	0	4795	1116	39	1	3990	1	DSCAML1	11	117374656	Missense_Mutation	SNP	G	TCGA-HC-A6AP-01A-11D-A30E-08	28208699	117374656	17631860	25	9935											
STAT6	6778	broad.mit.edu	37	chr12	57493835	57493835	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggtccaggacaccatcaaaCcactgccaaaaggtgaagcc	15	4	9	13	0	1	1	1	1	0	0	2	2	2	2	5	3	3	0	5	3	4	0			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr12:57493835C>A	ENST00000300134.3	-	14	1876	c.1551G>T	c.(1549-1551)tgG>tgT	p.W517C	STAT6_ENST00000543873.2_Missense_Mutation_p.W517C|STAT6_ENST00000556155.1_Missense_Mutation_p.W517C|STAT6_ENST00000538913.2_Missense_Mutation_p.W407C|STAT6_ENST00000537215.2_Missense_Mutation_p.W407C|STAT6_ENST00000454075.3_Missense_Mutation_p.W517C	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	517	SH2.				regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						CACCATCAAACCACTGCCAAA	0.612													3	24					0.115264	0.117569	1	1	0	A	57493835	C	A	57493835	3	1	210	1	0	0	0	0	1	0	0	0	15326	508	18	4	1028	4	STAT6	12	57493835	Missense_Mutation	SNP	C	TCGA-HC-A6AP-01A-11D-A30E-08		57493835	76358060	26	9936											
ALX1	8092	broad.mit.edu	37	chr12	85677423	85677423	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagctatggacaactgtaaCagtctccgaatgtctcccgt	11	10	9	11	2	2	1	0	0	2	1	4	3	2	2	2	1	3	2	2	1	4	2			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr12:85677423C>A	ENST00000316824.3	+	2	455	c.300C>A	c.(298-300)aaC>aaA	p.N100K		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	100					brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		ACAACTGTAACAGTCTCCGAA	0.463													15	90					3.45872e-05	3.75308e-05	1	1	0	A	85677423	C	A	85677423	3	1	210	1	0	0	0	0	1	0	0	0	552	477	17	4	306	4	ALX1	12	85677423	Missense_Mutation	SNP	C	TCGA-HC-A6AP-01A-11D-A30E-08	28183588	85677423	48174472	27	9937											
FOXA1	3169	broad.mit.edu	37	chr14	38061192	38061192	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggctgcttctcgcacttgAagcgcttctggcggcgcaag	5	9	13	14	5	2	1	0	1	2	0	3	1	2	1	1	3	2	5	1	3	2	3			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr14:38061192A>C	ENST00000250448.2	-	2	858	c.797T>G	c.(796-798)tTc>tGc	p.F266C	FOXA1_ENST00000540786.1_Missense_Mutation_p.F233C|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	266					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		CTCGCACTTGAAGCGCTTCTG	0.726													8	31					0	0	1	0	0	C	38061192	A	C	38061192	3	2	210	1	0	0	0	0	1	0	0	0	6022	246	9	5	625	5	FOXA1	14	38061192	Missense_Mutation	SNP	A	TCGA-HC-A6AP-01A-11D-A30E-08		38061192	69288348	28	9938											
SNW1	22938	broad.mit.edu	37	chr14	78205133	78205133	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attcataccggatatactgaGcaggagccaatttgtcagct	12	11	9	9	1	2	1	2	1	0	0	2	3	2	3	2	2	5	2	2	2	4	5			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr14:78205133G>A	ENST00000261531.7	-	5	583	c.521C>T	c.(520-522)gCt>gTt	p.A174V	SNW1_ENST00000555761.1_Missense_Mutation_p.A174V|SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000554775.1_Missense_Mutation_p.A12V	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	174	SNW.				negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		GATATACTGAGCAGGAGCCAA	0.438													5	45					0	0	1	0	0	A	78205133	G	A	78205133	3	1	210	1	0	0	0	0	1	0	0	0	14933	971	34	2	1129	2	SNW1	14	78205133	Missense_Mutation	SNP	G	TCGA-HC-A6AP-01A-11D-A30E-08	40143941	78205133	29144407	29	9939											
HERC1	8925	broad.mit.edu	37	chr15	64047508	64047508	+	Nonsense_Mutation	SNP	G	G	C																															cactatgtctgtatccagctGacacacaaacaactacctgc																										TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr15:64047508G>C	ENST00000443617.2	-	6	1637	c.1550C>G	c.(1549-1551)tCa>tGa	p.S517*		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	517					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GTATCCAGCTGACACACAAAC	0.388													6	25					0	0	1	0	0	C	64047508	G	C	64047508	4	2	210	1	0	0	0	0	0	1	0	0	7098	1294	45	4	13327	4	HERC1	15	64047508	Nonsense_Mutation	SNP	G	TCGA-HC-A6AP-01A-11D-A30E-08		64047508	38483884	30	9940	52	2									
HERC1	8925	broad.mit.edu	37	chr15	64047509	64047509	+	Missense_Mutation	SNP	A	A	G																															actatgtctgtatccagctgAcacacaaacaactacctgca																										TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr15:64047509A>G	ENST00000443617.2	-	6	1636	c.1549T>C	c.(1549-1551)Tca>Cca	p.S517P		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	517					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TATCCAGCTGACACACAAACA	0.388													6	24					0	0	1	0	0	G	64047509	A	G	64047509	3	3	210	1	0	0	0	0	1	0	0	0	7098	275	10	3	13328	3	HERC1	15	64047509	Missense_Mutation	SNP	A	TCGA-HC-A6AP-01A-11D-A30E-08	1	64047509	38483883	31	9941	52	2									
DHODH	1723	broad.mit.edu	37	chr16	72057375	72057375	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgtgcttctctgtaggcCgagttcccataattggggtt	6	14	11	10	1	1	0	0	0	1	0	3	1	2	0	3	3	1	4	3	3	2	6			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr16:72057375C>T	ENST00000219240.4	+	8	997	c.976C>T	c.(976-978)Cga>Tga	p.R326*	DHODH_ENST00000572887.1_Intron	NM_001361.4	NP_001352.2	Q02127	PYRD_HUMAN	dihydroorotate dehydrogenase (quinone)	326					'de novo' pyrimidine base biosynthetic process|pyrimidine nucleoside biosynthetic process|UMP biosynthetic process	integral to membrane|mitochondrial inner membrane	dihydroorotate oxidase activity			breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1)	10		Ovarian(137;0.125)			Atovaquone(DB01117)|Leflunomide(DB01097)	CTCTGTAGGCCGAGTTCCCAT	0.577													4	106					0	0	1	0	0	T	72057375	C	T	72057375	4	4	210	1	0	0	0	0	0	1	0	0	4512	644	23	1	1006	1	DHODH	16	72057375	Nonsense_Mutation	SNP	C	TCGA-HC-A6AP-01A-11D-A30E-08		72057375	18297378	32	9942											
DPH1	1801	broad.mit.edu	37	chr17	1943642	1943642	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttattctgggcactttgggcCgccagggcagtcctaagatc	7	11	12	11	1	1	1	0	0	1	1	3	1	2	1	3	3	0	2	3	3	2	4			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr17:1943642C>T	ENST00000263083.6	+	8	940	c.895C>T	c.(895-897)Cgc>Tgc	p.R299C	DPH1_ENST00000570477.1_Missense_Mutation_p.R219C	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN	diphthamide biosynthesis 1	299					peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						CACTTTGGGCCGCCAGGGCAG	0.597													8	109					0	0	1	0	0	T	1943642	C	T	1943642	3	4	210	1	0	0	0	0	1	0	0	0	4746	652	23	1	925	1	DPH1	17	1943642	Missense_Mutation	SNP	C	TCGA-HC-A6AP-01A-11D-A30E-08		1943642	79251568	33	9943											
SPOP	8405	broad.mit.edu	37	chr17	47696424	47696424	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctctacggatgaatttcttGaatccccagtctttgccttg	7	16	7	11	1	3	2	0	2	3	0	5	3	4	3	3	1	2	0	3	1	3	5			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr17:47696424G>C	ENST00000393331.3	-	7	869	c.399C>G	c.(397-399)ttC>ttG	p.F133L	SPOP_ENST00000347630.2_Missense_Mutation_p.F133L|SPOP_ENST00000503676.1_Missense_Mutation_p.F133L|SPOP_ENST00000504102.1_Missense_Mutation_p.F133L|SPOP_ENST00000393328.2_Missense_Mutation_p.F133L	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	133	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.F133L(7)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TGAATTTCTTGAATCCCCAGT	0.448										Prostate(2;0.17)			27	140					0	0	1	0	0	C	47696424	G	C	47696424	3	2	210	1	0	0	0	0	1	0	0	0	15140	1281	45	4	749	4	SPOP	17	47696424	Missense_Mutation	SNP	G	TCGA-HC-A6AP-01A-11D-A30E-08	45752782	47696424	33498786	34	9944											
ITGA3	3675	broad.mit.edu	37	chr17	48145589	48145589	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cacagactacctggagacggGcatgtgccagctgggcacca	10	5	13	13	1	0	2	0	0	0	2	0	3	0	2	3	3	3	3	3	3	1	1			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr17:48145589G>T	ENST00000320031.8	+	4	914	c.584G>T	c.(583-585)gGc>gTc	p.G195V	ITGA3_ENST00000007722.7_Missense_Mutation_p.G195V|ITGA3_ENST00000544892.1_Intron	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	195					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						CTGGAGACGGGCATGTGCCAG	0.592													5	134					0.217242	0.217242	1	1	0	T	48145589	G	T	48145589	3	4	210	1	0	0	0	0	1	0	0	0	7921	1203	42	4	598	4	ITGA3	17	48145589	Missense_Mutation	SNP	G	TCGA-HC-A6AP-01A-11D-A30E-08	449165	48145589	33049621	35	9945											
EPB41L3	23136	broad.mit.edu	37	chr18	5416007	5416007	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagggacggtgagcggatcGggaggtaatgctgcaagctc	10	6	17	8	3	0	1	0	1	0	0	2	4	0	4	0	5	4	4	0	5	3	1	rs141321874	byFrequency	TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr18:5416007G>A	ENST00000341928.2	-	13	2217	c.1877C>T	c.(1876-1878)cCg>cTg	p.P626L	EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.P626L|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000542146.1_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	626	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TGAGCGGATCGGGAGGTAATG	0.532													26	137					0	0	1	0	0	A	5416007	G	A	5416007	3	1	210	1	0	0	0	0	1	0	0	0	5182	1116	39	1	1426	1	EPB41L3	18	5416007	Missense_Mutation	SNP	G	TCGA-HC-A6AP-01A-11D-A30E-08		5416007	72661241	36	9946											
DOT1L	84444	broad.mit.edu	37	chr19	2226743	2226743	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caagaccccactgctgagcgGcaaggccgccaaggcccggg	9	2	14	16	3	0	2	0	1	0	1	0	2	0	2	5	4	2	2	5	4	3	0			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr19:2226743G>A	ENST00000398665.3	+	27	4259	c.4223G>A	c.(4222-4224)gGc>gAc	p.G1408D		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1408						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCTGAGCGGCAAGGCCGCC	0.721													3	29					0	0	1	0	0	A	2226743	G	A	2226743	3	1	210	1	0	0	0	0	1	0	0	0	4736	1203	42	2	4329	2	DOT1L	19	2226743	Missense_Mutation	SNP	G	TCGA-HC-A6AP-01A-11D-A30E-08		2226743	56902240	37	9947											
MUC16	94025	broad.mit.edu	37	chr19	9070676	9070676	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acggttgaatgagtccctccCtggaaaagtgtggttgatgt	9	12	13	7	1	0	3	0	3	0	0	2	4	2	4	2	3	0	2	2	3	3	2			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr19:9070676C>A	ENST00000397910.4	-	3	16973	c.16770G>T	c.(16768-16770)caG>caT	p.Q5590H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5592	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGTCCCTCCCTGGAAAAGTG	0.512													13	177					1.49906e-05	1.662e-05	1	1	0	A	9070676	C	A	9070676	3	1	210	1	0	0	0	0	1	0	0	0	10021	680	24	4	27081	4	MUC16	19	9070676	Missense_Mutation	SNP	C	TCGA-HC-A6AP-01A-11D-A30E-08	6843933	9070676	50058307	38	9948											
KIAA1683	80726	broad.mit.edu	37	chr19	18378298	18378298	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaactgtagctaggcggcCggctgcattgccttgattac	7	11	13	10	2	0	2	0	2	0	0	0	2	0	2	2	3	5	4	2	3	4	5			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr19:18378298C>T	ENST00000392413.3	-	3	267	c.52G>A	c.(52-54)Ggc>Agc	p.G18S	KIAA1683_ENST00000600359.2_5'UTR|KIAA1683_ENST00000600328.2_Missense_Mutation_p.G18S	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN	KIAA1683	18						mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GCTAGGCGGCCGGCTGCATTG	0.632													7	255					0	0	1	0	0	T	18378298	C	T	18378298	3	4	210	1	0	0	0	0	1	0	0	0	8293	652	23	1	4059	1	KIAA1683	19	18378298	Missense_Mutation	SNP	C	TCGA-HC-A6AP-01A-11D-A30E-08	9307622	18378298	40750685	39	9949											
RYR1	6261	broad.mit.edu	37	chr19	38964031	38964031	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcaggtatcccgagtggaCggcactgtggacacgccccc	7	6	12	16	3	1	0	1	0	0	0	2	3	2	2	4	4	0	2	4	4	1	1			TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr19:38964031C>T	ENST00000355481.4	+	28	3911	c.3780C>T	c.(3778-3780)gaC>gaT	p.D1260D	RYR1_ENST00000360985.3_Silent_p.D1260D|RYR1_ENST00000359596.3_Silent_p.D1260D	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1260	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCCGAGTGGACGGCACTGTGG	0.672													12	221					0	0	1	0	0	T	38964031	C	T	38964031	2	4	210	1	0	0	0	0	0	0	0	1	13820	535	19	1		1	RYR1	19	38964031	Silent	SNP	C	TCGA-HC-A6AP-01A-11D-A30E-08	20585733	38964031	20164952	40	9950											
DEDD2	162989	broad.mit.edu	37	chr19	42719342	42719342	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcttgactgccgacggcgacGgcagctaccctctgtcctct	5	9	11	16	4	2	1	0	1	2	0	3	3	3	1	3	2	3	3	3	2	1	2	rs139696001		TCGA-HC-A6AP-01A-11D-A30E-08	TCGA-HC-A6AP-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c224cf4-f1e6-4aa3-b08b-8d28cac6b2f6	574a6e8b-f27d-4fe5-8d21-6d0857077ac5	g.chr19:42719342G>A	ENST00000595337.1	-	3	478	c.391C>T	c.(391-393)Cgt>Tgt	p.R131C	DEDD2_ENST00000596251.1_Missense_Mutation_p.R131C|DEDD2_ENST00000336034.4_Missense_Mutation_p.R131C|DEDD2_ENST00000598727.1_Missense_Mutation_p.R131C|DEDD2_ENST00000593804.1_5'UTR	NM_001270614.1	NP_001257543.1	Q8WXF8	DEDD2_HUMAN	death effector domain containing 2	131					activation of pro-apoptotic gene products|apoptotic nuclear change|cellular homeostasis|induction of apoptosis via death domain receptors|intracellular signal transduction|negative regulation of transcription, DNA-dependent|RNA processing|rRNA catabolic process|transcription, DNA-dependent	nucleolus	DNA binding|receptor signaling complex scaffold activity			endometrium(1)|large_intestine(1)|ovary(1)|prostate(2)	5		Prostate(69;0.0704)				CGACGGCGACGGCAGCTACCC	0.552													32	140					0	0	1	0	0	A	42719342	G	A	42719342	3	1	210	1	0	0	0	0	1	0	0	0	4408	1116	39	1	601	1	DEDD2	19	42719342	Missense_Mutation	SNP	G	TCGA-HC-A6AP-01A-11D-A30E-08	3755311	42719342	16409641	41	9951											
OLFM3	118427	broad.mit.edu	37	chr1	102269968	102269968	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcatatgtggaggttttggtGgaataggaataatacacctt	12	14	11	4	0	1	0	1	0	0	0	1	3	1	3	1	5	1	1	1	5	6	7			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr1:102269968G>A	ENST00000370103.4	-	6	1416	c.1203C>T	c.(1201-1203)tcC>tcT	p.S401S	OLFM3_ENST00000536598.1_3'UTR|OLFM3_ENST00000338858.5_Silent_p.S421S|OLFM3_ENST00000462354.1_5'UTR	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	421	Olfactomedin-like.					extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		AGGTTTTGGTGGAATAGGAAT	0.443													8	117					0	0	1	0	0	A	102269968	G	A	102269968	2	1	211	1	0	0	0	0	0	0	0	1	10902	1335	47	2		2	OLFM3	1	102269968	Silent	SNP	G	TCGA-HC-A6AQ-01A-11D-A30E-08		102269968	146980653	1	9952											
KIDINS220	57498	broad.mit.edu	37	chr2	8919107	8919107	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attgcttagtccacgactatTaaggaacacaggcaagtgga	14	9	10	8	1	0	0	0	0	0	0	1	3	1	2	1	3	2	2	1	3	5	4			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr2:8919107T>A	ENST00000256707.3	-	19	2714	c.2533A>T	c.(2533-2535)Aat>Tat	p.N845Y	KIDINS220_ENST00000418530.1_Missense_Mutation_p.N803Y|KIDINS220_ENST00000473731.1_Missense_Mutation_p.N845Y|KIDINS220_ENST00000427284.1_Missense_Mutation_p.N845Y|KIDINS220_ENST00000319688.5_Missense_Mutation_p.N846Y	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	845	KAP NTPase.				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CCACGACTATTAAGGAACACA	0.418													9	88					0	0	1	0	0	A	8919107	T	A	8919107	3	1	211	1	0	0	0	0	1	0	0	0	8313	1754	61	5	2830	5	KIDINS220	2	8919107	Missense_Mutation	SNP	T	TCGA-HC-A6AQ-01A-11D-A30E-08		8919107	234280266	2	9953											
TUBA3D	113457	broad.mit.edu	37	chr2	132237644	132237644	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgtggtttctctcaggcGgatctgtgcacaggactgca	6	13	13	9	1	3	0	1	0	2	0	4	2	3	2	0	4	2	3	0	4	0	2			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr2:132237644G>A	ENST00000321253.6	+	4	485	c.378G>A	c.(376-378)gcG>gcA	p.A126A	TUBA3D_ENST00000409047.2_3'UTR	NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	126					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		TCTCTCAGGCGGATCTGTGCA	0.577													4	57					0	0	1	0	0	A	132237644	G	A	132237644	2	1	211	1	0	0	0	0	0	0	0	1	16809	1103	39	1		1	TUBA3D	2	132237644	Silent	SNP	G	TCGA-HC-A6AQ-01A-11D-A30E-08	123318537	132237644	110961729	3	9954											
TRANK1	9881	broad.mit.edu	37	chr3	36874403	36874403	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgccaccaagttcattttcGactgaactaaacacttggct	11	13	6	11	1	1	1	1	1	0	0	2	2	1	1	2	1	3	2	2	1	4	6			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr3:36874403G>A	ENST00000301807.6	-	21	6786	c.4889C>T	c.(4888-4890)tCg>tTg	p.S1630L	TRANK1_ENST00000429976.2_Missense_Mutation_p.S2180L|TRANK1_ENST00000428977.2_Missense_Mutation_p.S1630L	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2180					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GTTCATTTTCGACTGAACTAA	0.383													4	13					0	0	1	0	0	A	36874403	G	A	36874403	3	1	211	1	0	0	0	0	1	0	0	0	16515	1059	37	1	2250	1	TRANK1	3	36874403	Missense_Mutation	SNP	G	TCGA-HC-A6AQ-01A-11D-A30E-08		36874403	161148027	4	9955											
POLQ	10721	broad.mit.edu	37	chr3	121208992	121208992	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgttaattttttataagaaCtcttagtttgggatataaat	14	19	6	2	0	1	1	0	0	1	1	1	2	1	2	0	1	1	2	0	1	8	9			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr3:121208992C>G	ENST00000264233.5	-	16	2914	c.2786G>C	c.(2785-2787)aGt>aCt	p.S929T		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	929					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TTTATAAGAACTCTTAGTTTG	0.313								DNA polymerases (catalytic subunits)					3	29					0	0	1	0	0	G	121208992	C	G	121208992	3	3	211	1	0	0	0	0	1	0	0	0	12256	565	20	4	5046	4	POLQ	3	121208992	Missense_Mutation	SNP	C	TCGA-HC-A6AQ-01A-11D-A30E-08	84334589	121208992	76813438	5	9956											
KBTBD12	166348	broad.mit.edu	37	chr3	127646682	127646682	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaactctatgctctgggcagTattcataatgacctttatgt	10	15	8	8	0	3	1	1	1	2	0	3	2	3	1	1	1	2	3	1	1	5	6			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr3:127646682T>C	ENST00000405109.1	+	3	1613	c.1146T>C	c.(1144-1146)agT>agC	p.S382S	KBTBD12_ENST00000405256.1_Silent_p.S382S|KBTBD12_ENST00000407609.3_5'UTR|KBTBD12_ENST00000343941.4_Intron|KBTBD12_ENST00000492025.1_Intron			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	382										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						CTCTGGGCAGTATTCATAATG	0.368													8	86					0	0	1	0	0	C	127646682	T	C	127646682	2	2	211	1	0	0	0	0	0	0	0	1	8035	1635	57	3		3	KBTBD12	3	127646682	Silent	SNP	T	TCGA-HC-A6AQ-01A-11D-A30E-08	6437690	127646682	70375748	6	9957											
RAB3C	115827	broad.mit.edu	37	chr5	57913641	57913641	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgtcagcacagttgggatcGatttcaaagtaaaaactgta	14	11	9	7	2	2	0	2	0	0	0	4	2	2	1	0	1	2	4	0	1	5	4			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr5:57913641G>A	ENST00000282878.4	+	2	365	c.196G>A	c.(196-198)Gat>Aat	p.D66N		NM_138453.2	NP_612462.1	Q96E17	RAB3C_HUMAN	RAB3C, member RAS oncogene family	66					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	p.D66N(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)	21		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)		AGTTGGGATCGATTTCAAAGT	0.408													5	26					0	0	1	0	0	A	57913641	G	A	57913641	3	1	211	1	0	0	0	0	1	0	0	0	12985	1058	37	1	202	1	RAB3C	5	57913641	Missense_Mutation	SNP	G	TCGA-HC-A6AQ-01A-11D-A30E-08		57913641	123001619	7	9958											
TRPC7	57113	broad.mit.edu	37	chr5	135561808	135561808	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagttttatgaggcacatctTgattctcattatgagataat	12	16	8	5	0	2	3	1	3	2	1	3	5	2	3	0	1	0	2	0	1	3	6			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr5:135561808T>G	ENST00000513104.1	-	9	2458	c.2176A>C	c.(2176-2178)Aag>Cag	p.K726Q	TRPC7_ENST00000426057.2_Missense_Mutation_p.K610Q|TRPC7_ENST00000355180.3_Missense_Mutation_p.K665Q	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	726					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGGCACATCTTGATTCTCATT	0.378													3	8					0	0	1	0	0	G	135561808	T	G	135561808	3	3	211	1	0	0	0	0	1	0	0	0	16645	1821	63	5	428	5	TRPC7	5	135561808	Missense_Mutation	SNP	T	TCGA-HC-A6AQ-01A-11D-A30E-08	77648167	135561808	45353452	8	9959											
BTN1A1	696	broad.mit.edu	37	chr6	26509216	26509216	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcttttgcctatggtctagCggtaaaaagcccctgaccat	9	13	8	11	1	2	1	0	1	2	0	2	1	2	1	4	2	3	1	4	2	5	6	rs141533174	byFrequency	TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr6:26509216C>T	ENST00000244513.6	+	7	1461	c.1395C>T	c.(1393-1395)agC>agT	p.S465S		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	465	B30.2/SPRY.					extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						TATGGTCTAGCGGTAAAAAGC	0.493													4	62					0	0	1	0	0	T	26509216	C	T	26509216	2	4	211	1	0	0	0	0	0	0	0	1	1562	767	27	1		1	BTN1A1	6	26509216	Silent	SNP	C	TCGA-HC-A6AQ-01A-11D-A30E-08		26509216	144605851	9	9960											
ME1	4199	broad.mit.edu	37	chr6	83963441	83963441	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaatcttcaaactgaataaGgcaattcatgccatacctat	17	11	4	9	0	3	1	2	1	1	0	3	1	3	1	2	1	3	1	2	1	8	5			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr6:83963441G>A	ENST00000369705.3	-	7	837	c.721C>T	c.(721-723)Ctt>Ttt	p.L241F	ME1_ENST00000543031.1_Missense_Mutation_p.L166F|ME1_ENST00000541327.1_Missense_Mutation_p.L75F	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	241					carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	AACTGAATAAGGCAATTCATG	0.308													4	35					0	0	1	0	0	A	83963441	G	A	83963441	3	1	211	1	0	0	0	0	1	0	0	0	9467	1000	35	2	1029	2	ME1	6	83963441	Missense_Mutation	SNP	G	TCGA-HC-A6AQ-01A-11D-A30E-08	57454225	83963441	87151626	10	9961											
KCNB2	9312	broad.mit.edu	37	chr8	73849324	73849324	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagagattgaaatggaagaAgtggtgtgtccacaggagca	15	7	15	4	0	0	3	0	1	0	2	1	7	1	5	1	3	1	1	1	3	4	1			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr8:73849324A>C	ENST00000523207.1	+	3	2322	c.1734A>C	c.(1732-1734)gaA>gaC	p.E578D		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	578					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			AAATGGAAGAAGTGGTGTGTC	0.527													6	49					0	0	1	0	0	C	73849324	A	C	73849324	3	2	211	1	0	0	0	0	1	0	0	0	8057	69	3	5	1740	5	KCNB2	8	73849324	Missense_Mutation	SNP	A	TCGA-HC-A6AQ-01A-11D-A30E-08		73849324	72514698	11	9962											
KCNS2	3788	broad.mit.edu	37	chr8	99441254	99441254	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctccgtggtggcctacacCattgaaaaggaggagaacga	12	8	12	9	2	1	2	0	1	1	1	2	5	1	3	3	4	2	0	3	4	4	3			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr8:99441254C>T	ENST00000287042.4	+	2	1397	c.1047C>T	c.(1045-1047)acC>acT	p.T349T	KCNS2_ENST00000521839.1_Silent_p.T349T	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	349						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.T349T(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			TGGCCTACACCATTGAAAAGG	0.582													4	47					0	0	1	0	0	T	99441254	C	T	99441254	2	4	211	1	0	0	0	0	0	0	0	1	8133	581	21	2		2	KCNS2	8	99441254	Silent	SNP	C	TCGA-HC-A6AQ-01A-11D-A30E-08	25591930	99441254	46922768	12	9963											
COLEC10	10584	broad.mit.edu	37	chr8	120114623	120114623	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggtttgcttggaatacctgGagaaaaaggcaaagcaggta	15	8	13	5	0	0	1	0	0	0	1	0	3	0	2	1	5	3	5	1	5	6	4			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr8:120114623G>T	ENST00000332843.2	+	4	370	c.329G>T	c.(328-330)gGa>gTa	p.G110V	COLEC10_ENST00000521788.1_3'UTR	NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10 (C-type lectin)	110	Collagen-like.					collagen|cytoplasm	mannose binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			GGAATACCTGGAGAAAAAGGC	0.289													10	23					1.58986e-06	1.76652e-06	1	1	0	T	120114623	G	T	120114623	3	4	211	1	0	0	0	0	1	0	0	0	3733	1174	41	4	343	4	COLEC10	8	120114623	Missense_Mutation	SNP	G	TCGA-HC-A6AQ-01A-11D-A30E-08	20673369	120114623	26249399	13	9964											
XPA	7507	broad.mit.edu	37	chr9	100459525	100459525	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccgaggcaggcagctccgcgGgttgctctaaagccgccgcc	6	5	14	16	5	1	0	0	0	1	0	2	1	2	0	5	3	3	5	5	3	2	2			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr9:100459525G>T	ENST00000375128.4	-	1	114	c.50C>A	c.(49-51)cCc>cAc	p.P17H		NM_000380.3	NP_000371.1	P23025	XPA_HUMAN	xeroderma pigmentosum, complementation group A	17	Interaction with CEP164 and required for UV resistance.				nucleotide-excision repair, DNA damage removal	nucleoplasm	damaged DNA binding|metal ion binding|nucleotide binding|protein domain specific binding|protein homodimerization activity			breast(1)|endometrium(4)|large_intestine(1)|lung(4)|prostate(1)	11		Acute lymphoblastic leukemia(62;0.158)				CAGCTCCGCGGGTTGCTCTAA	0.731			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				3	26					0.004672	0.00505081	1	1	0	T	100459525	G	T	100459525	3	4	211	1	0	0	0	0	1	0	0	0	17500	1232	43	4	795	4	XPA	9	100459525	Missense_Mutation	SNP	G	TCGA-HC-A6AQ-01A-11D-A30E-08		100459525	40753906	14	9965											
GPR158	57512	broad.mit.edu	37	chr10	25887040	25887040	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	accacgtgagagaccaaacgGaagagtccagtagcctaccc	14	4	10	13	2	0	3	0	1	0	2	1	5	1	4	5	1	3	1	5	1	4	2			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr10:25887040G>A	ENST00000376351.3	+	11	2844	c.2485G>A	c.(2485-2487)Gaa>Aaa	p.E829K	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	829						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						AGACCAAACGGAAGAGTCCAG	0.463													26	149					0	0	1	0	0	A	25887040	G	A	25887040	3	1	211	1	0	0	0	0	1	0	0	0	6703	1175	41	2	2527	2	GPR158	10	25887040	Missense_Mutation	SNP	G	TCGA-HC-A6AQ-01A-11D-A30E-08		25887040	109647707	15	9966											
CPEB3	22849	broad.mit.edu	37	chr10	93999536	93999536	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctggggctggcgggtgagCggcgctgctgcgggggctgc	1	6	24	10	4	0	1	0	1	0	0	0	1	0	1	0	8	4	5	0	8	0	0			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr10:93999536C>A	ENST00000412050.4	-	2	660	c.572G>T	c.(571-573)cGc>cTc	p.R191L	CPEB3_ENST00000265997.4_Missense_Mutation_p.R191L	NM_001178137.1	NP_001171608.1	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	191	Ala-rich.|Pro-rich.						nucleotide binding|RNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				GGCGGGTGAgcggcgctgctg	0.771													2	1					0.0784	0.0804103	1	1	0	A	93999536	C	A	93999536	3	1	211	1	0	0	0	0	1	0	0	0	3825	768	27	4	1587	4	CPEB3	10	93999536	Missense_Mutation	SNP	C	TCGA-HC-A6AQ-01A-11D-A30E-08	68112496	93999536	41535211	16	9967											
UTP20	27340	broad.mit.edu	37	chr12	101766716	101766716	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgacaaattgagaccaaacTtggaattcatgctcgctcaa	14	10	8	9	1	2	2	2	2	0	1	3	4	2	3	1	1	2	2	1	1	4	3			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr12:101766716T>C	ENST00000261637.4	+	52	7027	c.6853T>C	c.(6853-6855)Ttg>Ctg	p.L2285L		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2285					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GAGACCAAACTTGGAATTCAT	0.408													4	33					0	0	1	0	0	C	101766716	T	C	101766716	2	2	211	1	0	0	0	0	0	0	0	1	17159	1606	56	3		3	UTP20	12	101766716	Silent	SNP	T	TCGA-HC-A6AQ-01A-11D-A30E-08		101766716	32085179	17	9968											
PCDH8	5100	broad.mit.edu	37	chr13	53419058	53419058	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttacactcagcggtgcaCgcccacagtcctaatacgaa	12	8	7	14	3	2	0	1	0	1	0	3	1	3	0	2	1	4	1	2	1	4	3			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr13:53419058C>T	ENST00000377942.3	-	3	3053	c.2850G>A	c.(2848-2850)gcG>gcA	p.A950A	PCDH8_ENST00000338862.4_Silent_p.A853A	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	950					cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CAGCGGTGCACGCCCACAGTC	0.552													6	36					0	0	1	0	0	T	53419058	C	T	53419058	2	4	211	1	0	0	0	0	0	0	0	1	11564	523	19	1		1	PCDH8	13	53419058	Silent	SNP	C	TCGA-HC-A6AQ-01A-11D-A30E-08		53419058	61750820	18	9969											
FHOD1	29109	broad.mit.edu	37	chr16	67264568	67264568	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcgggcacactggtccaggaAgtgggtgaggcgggcacgca	8	4	19	10	3	0	1	0	1	0	0	1	2	1	2	1	6	0	3	1	6	1	0			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr16:67264568A>G	ENST00000258201.4	-	18	3041	c.2794T>C	c.(2794-2796)Ttc>Ctc	p.F932L	FHOD1_ENST00000567687.1_Missense_Mutation_p.F511L	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	932	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		TGGTCCAGGAAGTGGGTGAGG	0.682													19	109					0	0	1	0	0	G	67264568	A	G	67264568	3	3	211	1	0	0	0	0	1	0	0	0	5915	72	3	3	720	3	FHOD1	16	67264568	Missense_Mutation	SNP	A	TCGA-HC-A6AQ-01A-11D-A30E-08		67264568	23090185	19	9970											
MAP2K4	6416	broad.mit.edu	37	chr17	12032509	12032509	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtggaatagtgtatttgaTcaactaacacaagtcgtgaa	16	11	9	5	1	1	2	1	2	0	0	2	3	1	3	0	1	2	1	0	1	8	4			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr17:12032509T>C	ENST00000415385.3	+	10	1031	c.978T>C	c.(976-978)gaT>gaC	p.D326D	MAP2K4_ENST00000353533.5_Silent_p.D315D			P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	315	Protein kinase.				cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.0?(10)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		GTGTATTTGATCAACTAACAC	0.423			"D, Mis, N"		"pancreatic, breast, colorectal"								3	29					0	0	1	0	0	C	12032509	T	C	12032509	2	2	211	1	0	0	0	0	0	0	0	1	9289	1432	50	3		3	MAP2K4	17	12032509	Silent	SNP	T	TCGA-HC-A6AQ-01A-11D-A30E-08		12032509	69162701	20	9971											
LAMA3	3909	broad.mit.edu	37	chr18	21519263	21519263	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgctcaccacttcccaagaCccaggccaatcatggagccc	10	7	7	17	0	2	1	2	0	0	1	3	2	3	2	5	2	2	1	5	2	2	2			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr18:21519263C>T	ENST00000313654.9	+	68	9180	c.8939C>T	c.(8938-8940)aCc>aTc	p.T2980I	LAMA3_ENST00000399516.3_Missense_Mutation_p.T2924I|LAMA3_ENST00000269217.6_Missense_Mutation_p.T1371I|LAMA3_ENST00000587184.1_Missense_Mutation_p.T1315I|LAMA3_ENST00000588770.1_3'UTR	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2980					cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTTCCCAAGACCCAGGCCAAT	0.537													17	110					0	0	1	0	0	T	21519263	C	T	21519263	3	4	211	1	0	0	0	0	1	0	0	0	8646	507	18	2	9384	2	LAMA3	18	21519263	Missense_Mutation	SNP	C	TCGA-HC-A6AQ-01A-11D-A30E-08		21519263	56557985	21	9972											
MUC16	94025	broad.mit.edu	37	chr19	9087907	9087907	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctgtcatctcaggtgaaGacccagaagagtaagccatt	13	8	11	9	0	2	4	2	1	1	3	3	5	2	4	2	1	2	2	2	1	3	2			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr19:9087907G>T	ENST00000397910.4	-	1	4111	c.3908C>A	c.(3907-3909)tCt>tAt	p.S1303Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1303	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTCAGGTGAAGACCCAGAAGA	0.493													5	82					0.014758	0.0155347	1	1	0	T	9087907	G	T	9087907	3	4	211	1	0	0	0	0	1	0	0	0	10021	942	33	4	39951	4	MUC16	19	9087907	Missense_Mutation	SNP	G	TCGA-HC-A6AQ-01A-11D-A30E-08		9087907	50041076	22	9973											
TMEM59L	25789	broad.mit.edu	37	chr19	18729079	18729079	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgacttcctcagttgcatgtCccggtgggtggcaggacctt	5	12	13	11	1	1	1	1	1	0	0	3	2	3	2	3	4	1	3	3	4	0	3			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr19:18729079C>T	ENST00000600490.1	+	7	964	c.779C>T	c.(778-780)tCc>tTc	p.S260F	TMEM59L_ENST00000262817.3_Missense_Mutation_p.S260F			Q9UK28	TM59L_HUMAN	transmembrane protein 59-like	260						Golgi membrane|integral to membrane|membrane fraction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						AGTTGCATGTCCCGGTGGGTG	0.647													3	13					0	0	1	0	0	T	18729079	C	T	18729079	3	4	211	1	0	0	0	0	1	0	0	0	16246	855	30	2	801	2	TMEM59L	19	18729079	Missense_Mutation	SNP	C	TCGA-HC-A6AQ-01A-11D-A30E-08	9641172	18729079	40399904	23	9974											
CGB7	94027	broad.mit.edu	37	chr19	49558205	49558205	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatggggcggcaccgtggccGaagcatctccctggatgccc	6	6	15	14	3	1	0	0	0	1	0	2	3	1	1	4	5	2	2	4	5	1	0			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr19:49558205G>A	ENST00000597853.1	-	4	2947	c.76C>T	c.(76-78)Cgg>Tgg	p.R26W	CGB7_ENST00000377280.3_Missense_Mutation_p.R26W|CGB7_ENST00000596965.1_Missense_Mutation_p.R26W|CGB7_ENST00000356213.4_Missense_Mutation_p.R24W					chorionic gonadotropin, beta polypeptide 7											lung(3)|urinary_tract(2)	5		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		CACCGTGGCCGAAGCATCTCC	0.652													19	57					0	0	1	0	0	A	49558205	G	A	49558205	3	1	211	1	0	0	0	0	1	0	0	0	3322	1057	37	1	429	1	CGB7	19	49558205	Missense_Mutation	SNP	G	TCGA-HC-A6AQ-01A-11D-A30E-08	30829126	49558205	9570778	24	9975											
CST7	8530	broad.mit.edu	37	chr20	24937950	24937950	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccaggaccttaactcacGtgtgaagccaggatttccta	10	11	8	12	1	1	1	1	1	0	0	3	3	3	3	4	2	2	0	4	2	3	4			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr20:24937950G>C	ENST00000480798.1	+	2	374	c.98G>C	c.(97-99)cGt>cCt	p.R33P	CST7_ENST00000376835.2_Missense_Mutation_p.R55P	NM_003650.3	NP_003641.3	O76096	CYTF_HUMAN	cystatin F (leukocystatin)	33					immune response	cytoplasm|extracellular region	cysteine-type endopeptidase inhibitor activity			large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5						CTTAACTCACGTGTGAAGCCA	0.478													8	137					0	0	1	0	0	C	24937950	G	C	24937950	3	2	211	1	0	0	0	0	1	0	0	0	4002	1145	40	4	104	4	CST7	20	24937950	Missense_Mutation	SNP	G	TCGA-HC-A6AQ-01A-11D-A30E-08		24937950	38087570	25	9976											
FITM2	128486	broad.mit.edu	37	chr20	42935657	42935657	+	Frame_Shift_Del	DEL	C	C	-																															ctgctgcttgctctggtgttCctttctgaccccctccaggg																										TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr20:42935657delC	ENST00000396825.3	-	2	417	c.397delG	c.(397-399)aafs	p.E133fs		NM_001080472.1	NP_001073941.1	Q8N6M3	FITM2_HUMAN	fat storage-inducing transmembrane protein 2	133					cellular triglyceride homeostasis|lipid particle organization|positive regulation of sequestering of triglyceride|regulation of triglyceride biosynthetic process	integral to endoplasmic reticulum membrane				endometrium(2)|lung(2)|skin(2)	6						CTCTGGTGTTCCTTTCTGACC	0.582													8	62	---	---	---	---						-	42935657	C	-	42935657	7	5	211	1	0	1	0	1	0	0	0	0	5932	864	30	0	395	0	FITM2	20	42935657	Frame_Shift_Del	DEL	C	TCGA-HC-A6AQ-01A-11D-A30E-08	17997707	42935657	20089863	26	9977											
PCIF1	63935	broad.mit.edu	37	chr20	44576000	44576000	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctcacccgcatggagcagagCcgcttcaaacgccaccagtt	10	6	9	16	3	2	1	2	0	0	1	2	2	2	2	4	1	3	4	4	1	1	2			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr20:44576000C>T	ENST00000372409.3	+	16	2170	c.1806C>T	c.(1804-1806)agC>agT	p.S602S	PCIF1_ENST00000479348.1_3'UTR	NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	602						nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						TGGAGCAGAGCCGCTTCAAAC	0.617													3	30					0	0	1	0	0	T	44576000	C	T	44576000	2	4	211	1	0	0	0	0	0	0	0	1	11627	738	26	2		2	PCIF1	20	44576000	Silent	SNP	C	TCGA-HC-A6AQ-01A-11D-A30E-08	1640343	44576000	18449520	27	9978											
BAGE2	85319	broad.mit.edu	37	chr21	11038898	11038898	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catgcgaaggcaagtctgaaGaaggtgttggggaggaagac	13	6	17	5	1	1	3	0	1	1	2	1	6	1	5	0	5	1	2	0	5	5	1			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr21:11038898G>A	ENST00000470054.1	-	0	1305									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)		CAAGTCTGAAGAAGGTGTTGG	0.438													6	233					0	0	1	0	0	A	11038898	G	A	11038898	1	1	211	0	1	0	0	0	0	0	0	0	1290	957	33	2		2	BAGE2	21	11038898	RNA	SNP	G	TCGA-HC-A6AQ-01A-11D-A30E-08		11038898	37090997	28	9979											
MCHR1	0	broad.mit.edu	37	chr22	41075565	41075565	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctgcggggcttgcgctccggGacaaggtggcaggcgctgga	5	6	19	11	4	0	0	0	0	0	0	1	2	1	2	1	7	2	4	1	7	1	1			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr22:41075565G>A	ENST00000249016.4	+	1	812	c.116G>A	c.(115-117)gGa>gAa	p.G39E	MCHR1_ENST00000381433.2_Missense_Mutation_p.G39E|MCHR1_ENST00000498400.1_Intron	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	39					elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						TGCGCTCCGGGACAAGGTGGC	0.692													3	37					0	0	1	0	0	A	41075565	G	A	41075565	3	1	211	1	0	0	0	0	1	0	0	0	9432	1174	41	2	118	2	MCHR1	22	41075565	Missense_Mutation	SNP	G	TCGA-HC-A6AQ-01A-11D-A30E-08		41075565	10229001	29	9980											
PANX2	56666	broad.mit.edu	37	chr22	50615615	50615615	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccgagctcaacttcctgctGcaggagatcgacaactgtta	10	10	9	12	2	1	1	1	0	0	1	4	4	3	1	2	1	5	4	2	1	3	2			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chr22:50615615G>T	ENST00000395842.2	+	2	474	c.474G>T	c.(472-474)ctG>ctT	p.L158L	PANX2_ENST00000159647.5_Silent_p.L158L	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN	pannexin 2	158					protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		ACTTCCTGCTGCAGGAGATCG	0.677													4	17					0.150653	0.150653	1	1	0	T	50615615	G	T	50615615	2	4	211	1	0	0	0	0	0	0	0	1	11468	1306	46	4		4	PANX2	22	50615615	Silent	SNP	G	TCGA-HC-A6AQ-01A-11D-A30E-08	9540050	50615615	688951	30	9981											
RBM41	55285	broad.mit.edu	37	chrX	106358623	106358623	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggaaggagtgacgatcagctCcctgaaataaagacttttct	13	10	10	8	1	2	3	1	2	1	1	3	6	3	5	1	2	1	1	1	2	4	3			TCGA-HC-A6AQ-01A-11D-A30E-08	TCGA-HC-A6AQ-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	818ac005-a711-4c39-a06c-d103c59def26	91c131c3-f705-4867-8a15-2661ef72a6c1	g.chrX:106358623C>A	ENST00000372487.1	-	4	508	c.482G>T	c.(481-483)gGa>gTa	p.G161V	RBM41_ENST00000372479.3_Missense_Mutation_p.G161V|RBM41_ENST00000203616.8_Missense_Mutation_p.G161V|RBM41_ENST00000471079.1_5'UTR	NM_001171080.1	NP_001164551.1	Q96IZ5	RBM41_HUMAN	RNA binding motif protein 41	161							nucleotide binding|RNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	13						ACGATCAGCTCCCTGAAATAA	0.438													14	28					6.31663e-08	7.219e-08	1	1	0	A	106358623	C	A	106358623	3	1	211	1	0	0	0	0	1	0	0	0	13187	855	30	4	784	4	RBM41	23	106358623	Missense_Mutation	SNP	C	TCGA-HC-A6AQ-01A-11D-A30E-08		106358623	48911937	31	9982											
PDIK1L	149420	broad.mit.edu	37	chr1	26449050	26449050	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtacaaattgcatttaaagaTagcagctgggaaacgtgaca	16	9	10	6	1	0	2	0	1	0	1	0	3	0	3	0	1	5	4	0	1	6	5			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr1:26449050T>C	ENST00000374271.4	+	4	1295	c.1008T>C	c.(1006-1008)gaT>gaC	p.D336D	PDIK1L_ENST00000374269.1_Silent_p.D336D	NM_001243532.1|NM_001243533.1|NM_152835.4	NP_001230461.1|NP_001230462.1|NP_690048.1	Q8N165	PDK1L_HUMAN	PDLIM1 interacting kinase 1 like	336						nucleus	ATP binding|protein serine/threonine kinase activity			large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	7		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00239)|all_lung(284;0.00366)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000735)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.015)|READ - Rectum adenocarcinoma(331;0.0649)		CATTTAAAGATAGCAGCTGGG	0.373													6	62					0	0	1	0	0	C	26449050	T	C	26449050	2	2	212	1	0	0	0	0	0	0	0	1	11720	1403	49	3		3	PDIK1L	1	26449050	Silent	SNP	T	TCGA-HC-A6AS-01A-11D-A30E-08		26449050	222801571	1	9983											
SPRR2F	0	broad.mit.edu	37	chr1	153085010	153085010	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttacttgctcttgggtggaCactttggctggcagggtggg	4	13	17	7	0	1	0	0	0	1	0	1	1	1	1	0	6	2	4	0	6	1	4			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr1:153085010C>A	ENST00000468739.1	-	2	260	c.200G>T	c.(199-201)tGt>tTt	p.C67F	SPRR2B_ENST00000368752.4_Intron	NM_001014450.1	NP_001014450.1	Q96RM1	SPR2F_HUMAN	small proline-rich protein 2F	67					keratinization	cornified envelope|cytoplasm		p.C67F(1)		large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	4	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTTGGGTGGACACTTTGGCTG	0.542													7	286					2.74318e-10	2.85515e-10	1	1	0	A	153085010	C	A	153085010	3	1	212	1	0	0	0	0	1	0	0	0	15157	478	17	4	22	4	SPRR2F	1	153085010	Missense_Mutation	SNP	C	TCGA-HC-A6AS-01A-11D-A30E-08	126635960	153085010	96165611	2	9984											
PTPN14	5784	broad.mit.edu	37	chr1	214557031	214557031	+	Frame_Shift_Del	DEL	G	G	-																															ctcccggagcatggggatctGgggcaccgattctggagcct																										TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr1:214557031delG	ENST00000366956.5	-	13	2361	c.2167delC	c.(2167-2169)agfs	p.Q723fs	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	723					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		ATGGGGATCTGGGGCACCGAT	0.617													9	98	---	---	---	---						-	214557031	G	-	214557031	7	5	212	1	0	1	0	1	0	0	0	0	12833	1357	47	0	1424	0	PTPN14	1	214557031	Frame_Shift_Del	DEL	G	TCGA-HC-A6AS-01A-11D-A30E-08	61472021	214557031	34693590	3	9985											
RPS27A	6233	broad.mit.edu	37	chr2	55462094	55462094	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctggctgtcctgaaatattAtaaggtgagccagttaaagg	12	11	12	6	0	0	2	0	2	0	0	1	2	1	2	2	3	1	3	2	3	6	4			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr2:55462094A>G	ENST00000272317.6	+	5	641	c.317A>G	c.(316-318)tAt>tGt	p.Y106C	RPS27A_ENST00000404735.1_Missense_Mutation_p.Y106C|RPS27A_ENST00000402285.3_Missense_Mutation_p.Y106C	NM_002954.5	NP_002945.1	P62979	RS27A_HUMAN	ribosomal protein S27a	106					activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	metal ion binding|structural constituent of ribosome			cervix(1)|ovary(1)|urinary_tract(1)	3						CTGAAATATTATAAGGTGAGC	0.378													5	24					0	0	1	0	0	G	55462094	A	G	55462094	3	3	212	1	0	0	0	0	1	0	0	0	13691	449	16	3	331	3	RPS27A	2	55462094	Missense_Mutation	SNP	A	TCGA-HC-A6AS-01A-11D-A30E-08		55462094	187737279	4	9986											
ATP2B2	491	broad.mit.edu	37	chr3	10452394	10452394	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcgtcacgtcctgcagcGcctcccacacgagctgcagg	7	6	12	16	4	1	1	1	1	0	0	3	2	3	1	3	1	5	3	3	1	0	0			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr3:10452394G>A	ENST00000397077.1	-	5	880	c.305C>T	c.(304-306)gCg>gTg	p.A102V	ATP2B2_ENST00000383800.4_Missense_Mutation_p.A102V|ATP2B2_ENST00000360273.2_Missense_Mutation_p.A102V|ATP2B2_ENST00000352432.4_Missense_Mutation_p.A102V|ATP2B2_ENST00000343816.4_Missense_Mutation_p.A102V			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	102					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GTCCTGCAGCGCCTCCCACAC	0.562													31	490					0	0	1	0	0	A	10452394	G	A	10452394	3	1	212	1	0	0	0	0	1	0	0	0	1139	1087	38	1	3510	1	ATP2B2	3	10452394	Missense_Mutation	SNP	G	TCGA-HC-A6AS-01A-11D-A30E-08		10452394	187570036	5	9987											
ARPP21	10777	broad.mit.edu	37	chr3	35778739	35778739	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caccagtcagcagcccctgcGaagcgccatggtggggcagt	8	5	14	14	2	1	0	1	0	0	0	1	1	1	0	4	3	4	2	4	3	1	0			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr3:35778739G>A	ENST00000187397.4	+	16	1985	c.1529G>A	c.(1528-1530)cGa>cAa	p.R510Q	ARPP21_ENST00000337271.5_Missense_Mutation_p.R456Q|ARPP21_ENST00000444190.1_Missense_Mutation_p.R456Q|ARPP21_ENST00000417925.1_Missense_Mutation_p.R476Q|ARPP21_ENST00000458225.1_Missense_Mutation_p.R476Q	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	510	Gln-rich.					cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						CAGCCCCTGCGAAGCGCCATG	0.612													11	108					0	0	1	0	0	A	35778739	G	A	35778739	3	1	212	1	0	0	0	0	1	0	0	0	977	1058	37	1	1596	1	ARPP21	3	35778739	Missense_Mutation	SNP	G	TCGA-HC-A6AS-01A-11D-A30E-08	25326345	35778739	162243691	6	9988											
UROC1	131669	broad.mit.edu	37	chr3	126202303	126202303	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgaatcccccgttgatcAcctcacccctgcaggaggca	8	6	10	17	2	2	1	2	1	0	0	3	3	3	2	6	3	1	3	6	3	1	1	rs141282463		TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr3:126202303A>G	ENST00000290868.2	-	19	1852	c.1799T>C	c.(1798-1800)gTg>gCg	p.V600A	UROC1_ENST00000383579.3_Missense_Mutation_p.V660A	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	600					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		CCCGTTGATCACCTCACCCCT	0.597													8	41					0	0	1	0	0	G	126202303	A	G	126202303	3	3	212	1	0	0	0	0	1	0	0	0	17088	159	6	3	239	3	UROC1	3	126202303	Missense_Mutation	SNP	A	TCGA-HC-A6AS-01A-11D-A30E-08	90423564	126202303	71820127	7	9989											
LDB2	9079	broad.mit.edu	37	chr4	16590333	16590333	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagaaattaaattacttacAtgcatggctaggatgcttct	14	13	7	7	0	1	1	0	0	1	1	1	2	1	2	0	2	4	3	0	2	6	5			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr4:16590333A>G	ENST00000502640.1	-	4	679	c.531_splice	c.e4+1	p.H177_splice	LDB2_ENST00000515064.1_Splice_Site_p.H177_splice|LDB2_ENST00000503829.1_5'UTR|LDB2_ENST00000441778.2_Splice_Site_p.H177_splice|LDB2_ENST00000503178.2_Splice_Site_p.H53_splice|LDB2_ENST00000304523.5_Splice_Site_p.H177_splice			O43679	LDB2_HUMAN	LIM domain binding 2	177							LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						AATTACTTACATGCATGGCTA	0.388													12	76					0	0	1	0	0	G	16590333	A	G	16590333	5	3	212	1	0	0	0	0	0	0	1	0	8735	231	8	3	719	3	LDB2	4	16590333	Splice_Site	SNP	A	TCGA-HC-A6AS-01A-11D-A30E-08		16590333	174563943	8	9990											
MUC7	4589	broad.mit.edu	37	chr4	71346947	71346947	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgaattccccagctccAcaagacaccacagctgcccc	11	5	6	19	0	0	2	0	1	0	1	2	2	2	2	7	0	3	2	7	0	2	1			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr4:71346947A>G	ENST00000413702.1	+	4	774	c.486A>G	c.(484-486)ccA>ccG	p.P162P	MUC7_ENST00000304887.5_Silent_p.P162P|MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Silent_p.P162P	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	162	Thr-rich.			P -> A (in Ref. 4; AA sequence and 5; AA sequence).		extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			CCCCAGCTCCACAAGACACCA	0.517													5	190					0	0	1	0	0	G	71346947	A	G	71346947	2	3	212	1	0	0	0	0	0	0	0	1	10029	146	6	3		3	MUC7	4	71346947	Silent	SNP	A	TCGA-HC-A6AS-01A-11D-A30E-08	54756614	71346947	119807329	9	9991											
EGFLAM	133584	broad.mit.edu	37	chr5	38431360	38431360	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatggaatcttacaggtggaTaagcagaagatagtggaggg	15	8	15	3	0	1	2	0	0	1	2	1	5	1	5	0	5	2	1	0	5	6	3			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr5:38431360T>A	ENST00000322350.5	+	15	2482	c.2136T>A	c.(2134-2136)gaT>gaA	p.D712E	EGFLAM_ENST00000354891.3_Missense_Mutation_p.D712E|EGFLAM_ENST00000397202.2_Missense_Mutation_p.D78E|EGFLAM_ENST00000336740.6_Missense_Mutation_p.D478E	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	712	Laminin G-like 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TACAGGTGGATAAGCAGAAGA	0.478													11	65					0	0	1	0	0	A	38431360	T	A	38431360	3	1	212	1	0	0	0	0	1	0	0	0	4992	1403	49	5	2208	5	EGFLAM	5	38431360	Missense_Mutation	SNP	T	TCGA-HC-A6AS-01A-11D-A30E-08		38431360	142483900	10	9992											
GFPT2	9945	broad.mit.edu	37	chr5	179745955	179745955	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttggtgtgctctatgatagCgctggggcaagggaaacagg	9	9	17	6	1	1	1	0	1	1	0	1	2	1	2	0	5	3	4	0	5	4	3			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr5:179745955C>T	ENST00000253778.8	-	10	965	c.794_splice	c.e10-1	p.A266_splice	GFPT2_ENST00000520165.1_5'UTR	NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	266	Glutamine amidotransferase type-2.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	TCTATGATAGCGCTGGGGCAA	0.607													8	34					0	0	1	0	0	T	179745955	C	T	179745955	5	4	212	1	0	0	0	0	0	0	1	0	6388	782	27	1	1292	1	GFPT2	5	179745955	Splice_Site	SNP	C	TCGA-HC-A6AS-01A-11D-A30E-08	141314595	179745955	1169305	11	9993											
KIAA0319	9856	broad.mit.edu	37	chr6	24564490	24564490	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccctgactgtcggtgactcGcaagtggaaagtgtacaccc	9	8	11	13	2	0	2	0	2	0	0	2	3	0	3	3	2	1	2	3	2	3	1			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr6:24564490G>A	ENST00000535378.1	-	16	2986	c.2344C>T	c.(2344-2346)Cga>Tga	p.R782*	KIAA0319_ENST00000537886.1_Nonsense_Mutation_p.R791*|KIAA0319_ENST00000378214.3_Nonsense_Mutation_p.R791*|KIAA0319_ENST00000543707.1_Nonsense_Mutation_p.R791*|KIAA0319_ENST00000430948.2_Nonsense_Mutation_p.R746*	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	791	PKD 5.				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						TCGGTGACTCGCAAGTGGAAA	0.587													4	71					0	0	1	0	0	A	24564490	G	A	24564490	4	1	212	1	0	0	0	0	0	1	0	0	8210	1095	38	1	875	1	KIAA0319	6	24564490	Nonsense_Mutation	SNP	G	TCGA-HC-A6AS-01A-11D-A30E-08		24564490	146550577	12	9994											
HIST1H3F	8968	broad.mit.edu	37	chr6	26250482	26250482	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccttgggcatgatagtcaCtcgcttggcgtggatagcac	7	11	13	10	2	1	1	1	1	0	0	3	2	2	2	1	3	1	3	1	3	2	4			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr6:26250482C>T	ENST00000446824.2	-	1	353	c.352G>A	c.(352-354)Gtg>Atg	p.V118M		NM_021018.2	NP_066298.1	P68431	H31_HUMAN	histone cluster 1, H3f	118					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			lung(6)|urinary_tract(1)	7						ATGATAGTCACTCGCTTGGCG	0.582											OREG0017241	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	119					0	0	1	0	0	T	26250482	C	T	26250482	3	4	212	1	0	0	0	0	1	0	0	0	7201	565	20	2	62	2	HIST1H3F	6	26250482	Missense_Mutation	SNP	C	TCGA-HC-A6AS-01A-11D-A30E-08	1685992	26250482	144864585	13	9995											
HIST1H4H	8365	broad.mit.edu	37	chr6	26285590	26285590	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatagataaggccagaaatTcgcttgacaccgccgcgacg	12	7	10	12	5	1	3	1	1	0	2	2	4	1	3	3	1	0	1	3	1	3	4			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr6:26285590T>G	ENST00000289352.1	-	1	172	c.138A>C	c.(136-138)cgA>cgC	p.R46R	HIST1H4H_ENST00000377727.1_Silent_p.R46R			P62805	H4_HUMAN	histone cluster 1, H4h	46					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			lung(2)|ovary(2)|upper_aerodigestive_tract(3)	7						GGCCAGAAATTCGCTTGACAC	0.547										HNSCC(76;0.23)			11	124					0	0	1	0	0	G	26285590	T	G	26285590	2	3	212	1	0	0	0	0	0	0	0	1	7213	1770	62	5		5	HIST1H4H	6	26285590	Silent	SNP	T	TCGA-HC-A6AS-01A-11D-A30E-08	35108	26285590	144829477	14	9996											
COL12A1	1303	broad.mit.edu	37	chr6	75814962	75814962	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggtccaacgctgtcctgtGtacatgtgcaagaatttgga	10	11	12	8	1	0	1	0	0	0	1	2	3	2	2	2	2	3	3	2	2	4	2			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr6:75814962G>A	ENST00000322507.8	-	54	8534	c.8225C>T	c.(8224-8226)aCa>aTa	p.T2742I	COL12A1_ENST00000345356.6_Missense_Mutation_p.T1578I|COL12A1_ENST00000483888.2_Missense_Mutation_p.T2742I|COL12A1_ENST00000416123.2_Missense_Mutation_p.T2666I	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2742	Nonhelical region (NC3).				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GCTGTCCTGTGTACATGTGCA	0.378													4	48					0	0	1	0	0	A	75814962	G	A	75814962	3	1	212	1	0	0	0	0	1	0	0	0	3692	1377	48	2	1018	2	COL12A1	6	75814962	Missense_Mutation	SNP	G	TCGA-HC-A6AS-01A-11D-A30E-08	49529372	75814962	95300105	15	9997											
FNDC1	84624	broad.mit.edu	37	chr6	159653589	159653589	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccccgtccagcgttctccGcgacagaagctctgtgcacc	6	8	10	17	4	2	1	0	0	2	1	5	2	4	1	5	0	3	3	5	0	1	1			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr6:159653589G>A	ENST00000297267.9	+	11	2245	c.2045G>A	c.(2044-2046)cGc>cAc	p.R682H	FNDC1_ENST00000340366.6_Missense_Mutation_p.R619H	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	682	Ser-rich.					extracellular region		p.R682H(1)		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)		AGCGTTCTCCGCGACAGAAGC	0.716													7	52					0	0	1	0	0	A	159653589	G	A	159653589	3	1	212	1	0	0	0	0	1	0	0	0	6001	1087	38	1	2087	1	FNDC1	6	159653589	Missense_Mutation	SNP	G	TCGA-HC-A6AS-01A-11D-A30E-08	83838627	159653589	11461478	16	9998											
CREB3L2	64764	broad.mit.edu	37	chr7	137569739	137569739	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacttgccacatgctgtcttAcccacggaggctgtgtaggg	8	10	12	11	1	1	0	0	0	1	0	1	1	1	1	2	3	4	3	2	3	3	3			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr7:137569739A>G	ENST00000330387.6	-	10	1622		c.e10+1		CREB3L2_ENST00000456390.1_Silent_p.G424G	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2						chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						ATGCTGTCTTACCCACGGAGG	0.522			T	FUS	fibromyxoid sarcoma								22	140					0	0	1	0	0	G	137569739	A	G	137569739	5	3	212	1	0	0	0	0	0	0	1	0	3880	405	14	3	302	3	CREB3L2	7	137569739	Splice_Site	SNP	A	TCGA-HC-A6AS-01A-11D-A30E-08		137569739	21568924	17	9999											
RB1CC1	9821	broad.mit.edu	37	chr8	53569195	53569195	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtttctgcttccttcaacGcaagttcaacctctaacttg	9	14	5	13	1	4	0	2	0	2	0	5	0	5	0	2	0	4	4	2	0	4	6			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr8:53569195G>A	ENST00000025008.5	-	15	3717	c.3194C>T	c.(3193-3195)gCg>gTg	p.A1065V	RB1CC1_ENST00000435644.2_Missense_Mutation_p.A1065V|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Missense_Mutation_p.A1065V	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	1065					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				TTCCTTCAACGCAAGTTCAAC	0.383													3	44					0	0	1	0	0	A	53569195	G	A	53569195	3	1	212	1	0	0	0	0	1	0	0	0	13151	1087	38	1	1630	1	RB1CC1	8	53569195	Missense_Mutation	SNP	G	TCGA-HC-A6AS-01A-11D-A30E-08		53569195	92794827	18	10000											
ZEB1	6935	broad.mit.edu	37	chr10	31809236	31809236	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcaccaggcagtcccacaCgaccacagatacggcaaaag	15	3	8	15	2	1	1	1	0	0	1	2	2	2	1	3	2	1	2	3	2	3	1			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr10:31809236C>T	ENST00000446923.2	+	7	1316	c.925C>T	c.(925-927)Cga>Tga	p.R309*	ZEB1_ENST00000542815.3_Nonsense_Mutation_p.R258*|ZEB1_ENST00000361642.5_Nonsense_Mutation_p.R326*|ZEB1_ENST00000320985.10_Nonsense_Mutation_p.R325*|ZEB1_ENST00000560721.2_Nonsense_Mutation_p.R305*|ZEB1_ENST00000559858.1_3'UTR	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	325					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				CAGTCCCACACGACCACAGAT	0.428													6	49					0	0	1	0	0	T	31809236	C	T	31809236	4	4	212	1	0	0	0	0	0	1	0	0	17681	528	19	1	1013	1	ZEB1	10	31809236	Nonsense_Mutation	SNP	C	TCGA-HC-A6AS-01A-11D-A30E-08		31809236	103725511	19	10001											
RASGEF1A	221002	broad.mit.edu	37	chr10	43698747	43698747	+	Splice_Site	DEL	T	T	-																															cagccaggccccgcctcaccTtttcaggcccggcttccagc																										TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr10:43698747delT	ENST00000395809.1	-	3	2826	c.321_splice	c.e3+1	p.K107_splice	RASGEF1A_ENST00000472864.1_5'UTR|RASGEF1A_ENST00000374459.1_Splice_Site_p.K115_splice|RASGEF1A_ENST00000395810.1_Splice_Site_p.K107_splice			Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	107	N-terminal Ras-GEF.				cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						CCGCCTCACCTTTTCAGGCCC	0.697													2	4	---	---	---	---						-	43698747	T	-	43698747	8	5	212	1	0	1	0	1	0	0	1	0	13121	1623	56	0	1169	0	RASGEF1A	10	43698747	Splice_Site	DEL	T	TCGA-HC-A6AS-01A-11D-A30E-08	11889511	43698747	91836000	20	10002											
TRUB1	142940	broad.mit.edu	37	chr10	116734977	116734977	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcctgaagacaaatggacaAttgatgacattgcacagtct	14	11	8	8	0	1	4	0	3	1	1	2	5	2	5	1	1	1	1	1	1	3	3			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr10:116734977A>G	ENST00000298746.3	+	8	950	c.889A>G	c.(889-891)Att>Gtt	p.I297V		NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase family member 1	297					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		CAAATGGACAATTGATGACAT	0.433													16	149					0	0	1	0	0	G	116734977	A	G	116734977	3	3	212	1	0	0	0	0	1	0	0	0	16663	101	4	3	919	3	TRUB1	10	116734977	Missense_Mutation	SNP	A	TCGA-HC-A6AS-01A-11D-A30E-08	73036230	116734977	18799770	21	10003											
B4GALNT4	338707	broad.mit.edu	37	chr11	376692	376692	+	Frame_Shift_Del	DEL	A	A	-																															gcagtggagcagccgcccccAaaggtgtacgtgaccagggt																										TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr11:376692delA	ENST00000329962.6	+	14	1569	c.1569delA	c.(1567-1569)ccfs	p.P523fs		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	523	Pro-rich.					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGCCGCCCCCAAAGGTGTACG	0.771													2	4	---	---	---	---						-	376692	A	-	376692	7	5	212	1	0	1	0	1	0	0	0	0	1267	117	5	0	1623	0	B4GALNT4	11	376692	Frame_Shift_Del	DEL	A	TCGA-HC-A6AS-01A-11D-A30E-08		376692	134629824	22	10004											
TRIM22	10346	broad.mit.edu	37	chr11	5730757	5730757	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgtctcatttttcaatgTcacaaaccacggagcactca	12	12	5	12	1	4	0	4	0	1	0	5	1	4	1	1	1	2	1	1	1	2	3			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr11:5730757T>G	ENST00000379965.3	+	8	1653	c.1376T>G	c.(1375-1377)gTc>gGc	p.V459G	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	459	B30.2/SPRY.				immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		TTTTTCAATGTCACAAACCAC	0.463													12	157					0	0	1	0	0	G	5730757	T	G	5730757	3	3	212	1	0	0	0	0	1	0	0	0	16557	1667	58	5	1402	5	TRIM22	11	5730757	Missense_Mutation	SNP	T	TCGA-HC-A6AS-01A-11D-A30E-08	5354065	5730757	129275759	23	10005											
CNGA4	1262	broad.mit.edu	37	chr11	6262661	6262661	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggcactgtccttactctcagGtatcagcacctgcagatcaa	10	10	8	13	0	3	1	3	0	1	1	5	1	4	1	2	2	3	4	2	2	3	2			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr11:6262661G>A	ENST00000379936.2	+	5	1033	c.917_splice	c.e5-1	p.W306_splice	CNGA4_ENST00000533426.1_Splice_Site_p.W75_splice	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	306					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTACTCTCAGGTATCAGCACC	0.552													21	110					0	0	1	0	0	A	6262661	G	A	6262661	5	1	212	1	0	0	0	0	0	0	1	0	3622	1275	44	2	936	2	CNGA4	11	6262661	Splice_Site	SNP	G	TCGA-HC-A6AS-01A-11D-A30E-08	531904	6262661	128743855	24	10006											
NDUFV1	4723	broad.mit.edu	37	chr11	67375940	67375940	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccaacctgtacggccgccAtgactggaggtgagacagtg	10	6	13	12	2	0	2	0	2	0	1	0	4	0	3	4	3	2	1	4	3	2	1			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr11:67375940A>G	ENST00000322776.6	+	2	299	c.146A>G	c.(145-147)cAt>cGt	p.H49R	NDUFV1_ENST00000532303.1_Intron|NDUFV1_ENST00000529927.1_Missense_Mutation_p.H40R|NDUFV1_ENST00000415352.2_Missense_Mutation_p.H42R	NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa	49					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16					NADH(DB00157)	TACGGCCGCCATGACTGGAGG	0.557													22	282					0	0	1	0	0	G	67375940	A	G	67375940	3	3	212	1	0	0	0	0	1	0	0	0	10346	217	8	3	152	3	NDUFV1	11	67375940	Missense_Mutation	SNP	A	TCGA-HC-A6AS-01A-11D-A30E-08	61113279	67375940	67630576	25	10007											
TPCN2	219931	broad.mit.edu	37	chr11	68822730	68822730	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agcacggcggacgtgcgctaCcgcgctgctccctgggagcc	5	5	15	16	6	0	0	0	0	0	0	1	2	1	2	3	3	5	4	3	3	1	1			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr11:68822730C>A	ENST00000294309.3	+	4	440	c.339C>A	c.(337-339)taC>taA	p.Y113*	TPCN2_ENST00000442692.2_3'UTR|TPCN2_ENST00000542467.1_Nonsense_Mutation_p.Y113*	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	113					cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			ACGTGCGCTACCGCGCTGCTC	0.617													22	155					5.35356e-11	5.68816e-11	1	1	0	A	68822730	C	A	68822730	4	1	212	1	0	0	0	0	0	1	0	0	16457	518	18	4	353	4	TPCN2	11	68822730	Nonsense_Mutation	SNP	C	TCGA-HC-A6AS-01A-11D-A30E-08	1446790	68822730	66183786	26	10008											
CLPB	81570	broad.mit.edu	37	chr11	72028171	72028171	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacccactgtggcgatggCgctctcctggccaatgatgt	7	9	12	13	2	1	1	0	1	1	0	2	2	1	1	3	3	1	2	3	3	1	0			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr11:72028171C>T	ENST00000294053.3	-	8	1230	c.1057G>A	c.(1057-1059)Gcc>Acc	p.A353T	CLPB_ENST00000543042.1_Missense_Mutation_p.A152T|CLPB_ENST00000437826.2_Missense_Mutation_p.A308T|CLPB_ENST00000340729.5_Missense_Mutation_p.A294T|CLPB_ENST00000538039.1_Missense_Mutation_p.A323T	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	353					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						GTGGCGATGGCGCTCTCCTGG	0.612													4	171					0	0	1	0	0	T	72028171	C	T	72028171	3	4	212	1	0	0	0	0	1	0	0	0	3574	768	27	1	1106	1	CLPB	11	72028171	Missense_Mutation	SNP	C	TCGA-HC-A6AS-01A-11D-A30E-08	3205441	72028171	62978345	27	10009											
MYO7A	4647	broad.mit.edu	37	chr11	76901186	76901186	+	Splice_Site	DEL	T	T	-																															cagctggctggagctgcaggTtcgtgcgtgtgtatgcacgt																										TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr11:76901186delT	ENST00000409709.3	+	29	4022		c.e29+2		MYO7A_ENST00000458637.2_Splice_Site|MYO7A_ENST00000409619.2_Splice_Site	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA						actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GAGCTGCAGGTTCgtgcgtgt	0.622													2	4	---	---	---	---						-	76901186	T	-	76901186	8	5	212	1	0	1	0	1	0	0	1	0	10130	1739	60	0	3896	0	MYO7A	11	76901186	Splice_Site	DEL	T	TCGA-HC-A6AS-01A-11D-A30E-08	4873015	76901186	58105330	28	10010											
PSME1	5720	broad.mit.edu	37	chr14	24606557	24606557	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcaatgaagccaacttgAgcaatctgaaggccccattg	12	9	8	12	0	2	3	1	3	2	0	3	3	2	3	3	1	3	1	3	1	5	2			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr14:24606557A>G	ENST00000382708.3	+	4	226	c.163A>G	c.(163-165)Agc>Ggc	p.S55G	PSME1_ENST00000559123.1_5'UTR|PSME1_ENST00000561435.1_Missense_Mutation_p.S55G|PSME1_ENST00000470718.1_3'UTR|PSME1_ENST00000206451.6_Missense_Mutation_p.S55G	NM_176783.1	NP_788955.1	Q06323	PSME1_HUMAN	proteasome (prosome, macropain) activator subunit 1 (PA28 alpha)	55			S -> N (in dbSNP:rs1803830).		anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|proteasome activator complex				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(265;0.00831)		AGCCAACTTGAGCAATCTGAA	0.557													8	137					0	0	1	0	0	G	24606557	A	G	24606557	3	3	212	1	0	0	0	0	1	0	0	0	12755	304	11	3	177	3	PSME1	14	24606557	Missense_Mutation	SNP	A	TCGA-HC-A6AS-01A-11D-A30E-08		24606557	82742983	29	10011											
SEPHS2	22928	broad.mit.edu	37	chr16	30456444	30456444	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgtccctccttcctcagccGcatcccgaaagcctttgacc	6	9	6	20	3	1	1	1	1	0	0	5	2	5	1	8	0	2	1	8	0	1	2			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr16:30456444G>A	ENST00000478753.2	-	1	1058	c.605C>T	c.(604-606)gCg>gTg	p.A202V	SEPHS2_ENST00000542752.1_Missense_Mutation_p.A145V|SEPHS2_ENST00000500504.2_Missense_Mutation_p.A202V			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	202					selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						TTCCTCAGCCGCATCCCGAAA	0.527													4	128					0	0	1	0	0	A	30456444	G	A	30456444	3	1	212	1	0	0	0	0	1	0	0	0	14109	1087	38	1	745	1	SEPHS2	16	30456444	Missense_Mutation	SNP	G	TCGA-HC-A6AS-01A-11D-A30E-08		30456444	59898309	30	10012											
STXBP2	6813	broad.mit.edu	37	chr19	7707903	7707903	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctatcccagatcctgaaaaAgatgccgcagtaccagaagg	14	6	9	12	1	0	4	0	1	0	3	2	4	2	4	5	1	2	2	5	1	5	2			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr19:7707903A>G	ENST00000441779.2	+	12	1065	c.1028A>G	c.(1027-1029)aAg>aGg	p.K343R	STXBP2_ENST00000414284.2_Missense_Mutation_p.K329R|STXBP2_ENST00000221283.5_Missense_Mutation_p.K332R	NM_001272034.1	NP_001258963.1	Q15833	STXB2_HUMAN	syntaxin binding protein 2	332					leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						ATCCTGAAAAAGATGCCGCAG	0.612													4	148					0	0	1	0	0	G	7707903	A	G	7707903	3	3	212	1	0	0	0	0	1	0	0	0	15409	72	3	3	1041	3	STXBP2	19	7707903	Missense_Mutation	SNP	A	TCGA-HC-A6AS-01A-11D-A30E-08		7707903	51421080	31	10013											
ZNF254	9534	broad.mit.edu	37	chr19	24310294	24310294	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtgaagaatgtggcaaaTcttttagccaatcctcaacc	14	11	7	9	0	2	2	1	1	1	1	3	2	3	2	3	1	2	1	3	1	7	2			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr19:24310294T>G	ENST00000357002.4	+	4	1607	c.1492T>G	c.(1492-1494)Tct>Gct	p.S498A	ZNF254_ENST00000342944.6_Missense_Mutation_p.S413A	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	498					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				ATGTGGCAAATCTTTTAGCCA	0.408													4	84					0	0	1	0	0	G	24310294	T	G	24310294	3	3	212	1	0	0	0	0	1	0	0	0	17856	1435	50	5	1506	5	ZNF254	19	24310294	Missense_Mutation	SNP	T	TCGA-HC-A6AS-01A-11D-A30E-08	16602391	24310294	34818689	32	10014			1	25		2	2	12	N	T_A	1.314729e-05
ZNF254	9534	broad.mit.edu	37	chr19	24310305	24310305	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtggcaaatcttttagccaAtcctcaacccttactacaca	12	12	4	13	0	2	0	1	0	1	0	3	0	3	0	3	1	4	1	3	1	6	4			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr19:24310305A>G	ENST00000357002.4	+	4	1618	c.1503A>G	c.(1501-1503)caA>caG	p.Q501Q	ZNF254_ENST00000342944.6_Silent_p.Q416Q	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	501					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				CTTTTAGCCAATCCTCAACCC	0.403													4	77					0	0	1	0	0	G	24310305	A	G	24310305	2	3	212	1	0	0	0	0	0	0	0	1	17856	98	4	3		3	ZNF254	19	24310305	Silent	SNP	A	TCGA-HC-A6AS-01A-11D-A30E-08	11	24310305	34818678	33	10015			1	25		2	2	12	N	T_A	1.314729e-05
SLC7A9	11136	broad.mit.edu	37	chr19	33355594	33355594	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagggccccacagcttccGtgttgctgagcacagacttg	7	8	13	13	1	0	2	0	1	0	1	1	2	1	2	3	2	3	5	3	2	0	3	rs146154087		TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr19:33355594G>A	ENST00000023064.4	-	3	367	c.176C>T	c.(175-177)aCg>aTg	p.T59M	SLC7A9_ENST00000587772.1_Missense_Mutation_p.T59M|SLC7A9_ENST00000590341.1_Missense_Mutation_p.T59M	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	59					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	CACAGCTTCCGTGTTGCTGAG	0.612													5	230					0	0	1	0	0	A	33355594	G	A	33355594	3	1	212	1	0	0	0	0	1	0	0	0	14760	1145	40	1	1331	1	SLC7A9	19	33355594	Missense_Mutation	SNP	G	TCGA-HC-A6AS-01A-11D-A30E-08	9045289	33355594	25773389	34	10016											
TMEM150B	284417	broad.mit.edu	37	chr19	55831946	55831946	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgatgtagggaaagcctttActgaggtccacagtcctgtt	9	12	11	9	0	0	2	0	2	0	0	2	3	2	3	3	2	2	2	3	2	3	4			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr19:55831946A>G	ENST00000326652.4	-	4	290	c.108T>C	c.(106-108)agT>agC	p.S36S	TMEM150B_ENST00000438693.1_Silent_p.S36S			A6NC51	T150B_HUMAN	transmembrane protein 150B	36						integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3						GAAAGCCTTTACTGAGGTCCA	0.527													5	171					0	0	1	0	0	G	55831946	A	G	55831946	2	3	212	1	0	0	0	0	0	0	0	1	16128	388	14	3		3	TMEM150B	19	55831946	Silent	SNP	A	TCGA-HC-A6AS-01A-11D-A30E-08	22476352	55831946	3297037	35	10017											
ZNF583	147949	broad.mit.edu	37	chr19	56935562	56935562	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atctcttactctacatcagaGaattcatactggagaaagac	15	11	6	9	0	4	3	2	0	2	3	5	5	4	3	0	1	3	0	0	1	5	4			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr19:56935562G>A	ENST00000333201.9	+	5	1745	c.1535G>A	c.(1534-1536)aGa>aAa	p.R512K	ZNF583_ENST00000585612.1_Intron|ZNF583_ENST00000291598.7_Missense_Mutation_p.R512K	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	512					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		CTACATCAGAGAATTCATACT	0.388													19	104					0	0	1	0	0	A	56935562	G	A	56935562	3	1	212	1	0	0	0	0	1	0	0	0	18072	942	33	2	1549	2	ZNF583	19	56935562	Missense_Mutation	SNP	G	TCGA-HC-A6AS-01A-11D-A30E-08	1103616	56935562	2193421	36	10018											
PCNT	5116	broad.mit.edu	37	chr21	47836289	47836289	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatagacgcgtgtgatgccAatacaaccccagggggtgta	11	7	12	11	2	0	2	0	1	0	1	0	2	0	2	4	2	3	1	4	2	5	3			TCGA-HC-A6AS-01A-11D-A30E-08	TCGA-HC-A6AS-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb4b9c0-ff21-4077-8c20-0e3acc8d0b39	b4701be8-2c61-4a86-8220-6b3a3550b60e	g.chr21:47836289A>C	ENST00000359568.5	+	30	6564	c.6457A>C	c.(6457-6459)Aat>Cat	p.N2153H	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2153					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GTGTGATGCCAATACAACCCC	0.443													22	95					0	0	1	0	0	C	47836289	A	C	47836289	3	2	212	1	0	0	0	0	1	0	0	0	11637	130	5	5	6575	5	PCNT	21	47836289	Missense_Mutation	SNP	A	TCGA-HC-A6AS-01A-11D-A30E-08		47836289	293606	37	10019											
ESPN	83715	broad.mit.edu	37	chr1	6500486	6500486	+	Frame_Shift_Del	DEL	G	G	-																															cgcagatgggccacagcccaGtcatcgtgtggttggtgagc																										TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr1:6500486delG	ENST00000377828.1	+	3	829	c.661delG	c.(661-663)tcfs	p.V221fs		NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	221					sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	actin filament binding|SH3 domain binding			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		CCACAGCCCAGTCATCGTGTG	0.756													2	4	---	---	---	---						-	6500486	G	-	6500486	7	5	213	1	0	1	0	1	0	0	0	0	5282	1029	36	0	671	0	ESPN	1	6500486	Frame_Shift_Del	DEL	G	TCGA-HC-A6HX-01A-11D-A31L-08		6500486	242750135	1	10020											
AK5	26289	broad.mit.edu	37	chr1	77763264	77763264	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtggtccaggaagtggaaagGgtactcagagtttgaaaatt	13	10	14	4	0	1	2	1	1	0	1	2	4	2	4	1	4	1	2	1	4	5	3			TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr1:77763264G>C	ENST00000344720.5	+	4	1384	c.358G>C	c.(358-360)Ggt>Cgt	p.G120R	AK5_ENST00000317704.4_3'UTR|AK5_ENST00000354567.2_Missense_Mutation_p.G146R	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	146					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						AAGTGGAAAGGGTACTCAGAG	0.388													17	101					0	0	1	0	0	C	77763264	G	C	77763264	3	2	213	1	0	0	0	0	1	0	0	0	440	1232	43	4	450	4	AK5	1	77763264	Missense_Mutation	SNP	G	TCGA-HC-A6HX-01A-11D-A31L-08	71262778	77763264	171487357	2	10021											
LPPR4	0	broad.mit.edu	37	chr1	99772408	99772408	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcaccccagtagagggcagcGaaattggctcagagacgctg	11	6	13	11	2	2	2	2	0	0	2	2	4	2	2	2	2	1	4	2	2	2	2			TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr1:99772408G>A	ENST00000370185.3	+	7	2631	c.2134G>A	c.(2134-2136)Gaa>Aaa	p.E712K	LPPR4_ENST00000370184.1_Missense_Mutation_p.E554K|LPPR4_ENST00000457765.1_Missense_Mutation_p.E654K	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		712							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		AGAGGGCAGCGAAATTGGCTC	0.522													4	37					0	0	1	0	0	A	99772408	G	A	99772408	3	1	213	1	0	0	0	0	1	0	0	0	8972	1059	37	1	2160	1	LPPR4	1	99772408	Missense_Mutation	SNP	G	TCGA-HC-A6HX-01A-11D-A31L-08	22009144	99772408	149478213	3	10022											
RPTN	126638	broad.mit.edu	37	chr1	152128169	152128172	+	Frame_Shift_Del	DEL	TGTC	TGTC	-																															tgtagtgggaactctggcctTgtctgtctgtctgaccatag																										TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr1:152128169_152128172delTGTC	ENST00000316073.3	-	3	1467_1470	c.1403_1406delGACA	c.(1402-1407)aafs	p.RQ468fs		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	468	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACTCTGGCCTTGTCTGTCTGTCTG	0.5													8	1029	---	---	---	---						-	152128172	TGTC	-	152128169	7	5	213	1	0	1	0	1	0	0	0	0	13716	1812	63	0	952	0	RPTN	1	152128169	Frame_Shift_Del	DEL	TGTC	TCGA-HC-A6HX-01A-11D-A31L-08	52355761	152128169	97122452	4	10023											
RAF1	5894	broad.mit.edu	37	chr3	12632413	12632413	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcaccactgggtcacaatTgccaggttgtcctttgtcat	7	13	9	12	1	2	0	2	0	0	0	4	0	3	0	3	2	1	2	3	2	1	3			TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr3:12632413T>G	ENST00000251849.4	-	12	1693	c.1254A>C	c.(1252-1254)gcA>gcC	p.A418A	RAF1_ENST00000542177.1_Silent_p.A337A|RAF1_ENST00000534997.1_Silent_p.A203A|RAF1_ENST00000442415.2_Silent_p.A438A	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	v-raf-1 murine leukemia viral oncogene homolog 1	418	Protein kinase.				activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Sorafenib(DB00398)	GGGTCACAATTGCCAGGTTGT	0.532			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome				11	99					0	0	1	0	0	G	12632413	T	G	12632413	2	3	213	1	0	0	0	0	0	0	0	1	13054	1799	63	5		5	RAF1	3	12632413	Silent	SNP	T	TCGA-HC-A6HX-01A-11D-A31L-08		12632413	185390017	5	10024											
PDZRN3	23024	broad.mit.edu	37	chr3	73450103	73450103	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcctccctgtccatctcCtgatggatgtctccaatgta	7	13	7	14	0	2	1	0	1	2	0	7	2	5	2	5	1	1	2	5	1	2	1			TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr3:73450103C>T	ENST00000263666.4	-	5	1338	c.1224G>A	c.(1222-1224)caG>caA	p.Q408Q	PDZRN3_ENST00000535920.1_Silent_p.Q130Q|PDZRN3_ENST00000479530.1_Silent_p.Q125Q|PDZRN3_ENST00000466348.1_5'UTR|PDZRN3_ENST00000462146.2_Silent_p.Q65Q|PDZRN3_ENST00000466780.1_Silent_p.Q65Q	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	408							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TGTCCATCTCCTGATGGATGT	0.438													14	98					0	0	1	0	0	T	73450103	C	T	73450103	2	4	213	1	0	0	0	0	0	0	0	1	11756	680	24	2		2	PDZRN3	3	73450103	Silent	SNP	C	TCGA-HC-A6HX-01A-11D-A31L-08	60817690	73450103	124572327	6	10025											
ADAMTS3	9508	broad.mit.edu	37	chr4	73205333	73205333	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcccgcgtgtctgcggcGtctcattgtttcattcagct	3	16	9	13	4	5	0	3	0	3	0	7	0	5	0	1	1	2	2	1	1	0	4			TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr4:73205333G>A	ENST00000286657.4	-	5	775	c.739C>T	c.(739-741)Cgc>Tgc	p.R247C		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	247	Poly-Arg.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	p.R247C(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGTCTGCGGCGTCTCATTGTT	0.483													24	197					0	0	1	0	0	A	73205333	G	A	73205333	3	1	213	1	0	0	0	0	1	0	0	0	266	1145	40	1	2950	1	ADAMTS3	4	73205333	Missense_Mutation	SNP	G	TCGA-HC-A6HX-01A-11D-A31L-08		73205333	117948943	7	10026											
SPARCL1	8404	broad.mit.edu	37	chr4	88403694	88403694	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaactgaatcacttcaaagTccgtacaagtaggaatagct	16	9	8	8	1	2	1	2	1	0	0	3	3	3	2	1	1	3	3	1	1	8	4			TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr4:88403694T>C	ENST00000418378.1	-	9	2121	c.1550A>G	c.(1549-1551)gAc>gGc	p.D517G	SPARCL1_ENST00000503414.1_Missense_Mutation_p.D392G|SPARCL1_ENST00000282470.6_Missense_Mutation_p.D517G	NM_001128310.1	NP_001121782.1	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	517					signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		CACTTCAAAGTCCGTACAAGT	0.408													7	38					0	0	1	0	0	C	88403694	T	C	88403694	3	2	213	1	0	0	0	0	1	0	0	0	15052	1667	58	3	460	3	SPARCL1	4	88403694	Missense_Mutation	SNP	T	TCGA-HC-A6HX-01A-11D-A31L-08	15198361	88403694	102750582	8	10027											
NEK1	4750	broad.mit.edu	37	chr4	170482702	170482702	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctggccctatttattctttCcaactttggggaaaagaaat	11	14	7	9	0	1	1	0	0	1	1	2	2	2	2	3	3	1	0	3	3	6	6			TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr4:170482702C>A	ENST00000439128.2	-	15	1835	c.1195G>T	c.(1195-1197)Gaa>Taa	p.E399*	NEK1_ENST00000507142.1_Nonsense_Mutation_p.E399*|NEK1_ENST00000512193.1_Intron|NEK1_ENST00000510533.1_Nonsense_Mutation_p.E399*|NEK1_ENST00000511633.1_Nonsense_Mutation_p.E399*	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	399					cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		TTTATTCTTTCCAACTTTGGG	0.333													6	43					0.00198382	0.00209403	1	1	0	A	170482702	C	A	170482702	4	1	213	1	0	0	0	0	0	1	0	0	10368	864	30	4	2661	4	NEK1	4	170482702	Nonsense_Mutation	SNP	C	TCGA-HC-A6HX-01A-11D-A31L-08	82079008	170482702	20671574	9	10028											
GPLD1	2822	broad.mit.edu	37	chr6	24446015	24446015	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggaagtagccatacaccctcCcaaggctctttttctcatct	9	12	6	14	0	3	0	1	0	3	0	5	1	4	1	3	2	2	2	3	2	4	4			TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr6:24446015C>T	ENST00000230036.1	-	19	1975	c.1865G>A	c.(1864-1866)gGg>gAg	p.G622E		NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	622						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						ATACACCCTCCCAAGGCTCTT	0.537													8	103					0	0	1	0	0	T	24446015	C	T	24446015	3	4	213	1	0	0	0	0	1	0	0	0	6654	623	22	2	685	2	GPLD1	6	24446015	Missense_Mutation	SNP	C	TCGA-HC-A6HX-01A-11D-A31L-08		24446015	146669052	10	10029											
OR4C13	283092	broad.mit.edu	37	chr11	49974801	49974801	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctgtattctacactatgaTaacttctatgttaaacccct	11	16	4	10	0	2	1	0	1	2	0	2	1	2	1	2	0	4	3	2	0	7	8			TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr11:49974801T>A	ENST00000555099.1	+	1	859	c.827T>A	c.(826-828)aTa>aAa	p.I276K		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						TACACTATGATAACTTCTATG	0.358													8	69					0	0	1	0	0	A	49974801	T	A	49974801	3	1	213	1	0	0	0	0	1	0	0	0	11095	1406	49	5	829	5	OR4C13	11	49974801	Missense_Mutation	SNP	T	TCGA-HC-A6HX-01A-11D-A31L-08		49974801	85031715	11	10030											
OR8S1	341568	broad.mit.edu	37	chr12	48920026	48920026	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gccttgctctgctccactctCctacatgggctgggaaactt	6	12	9	14	0	2	0	0	0	2	0	4	1	3	1	3	2	4	3	3	2	2	3			TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr12:48920026C>T	ENST00000310194.1	+	1	612	c.612C>T	c.(610-612)ctC>ctT	p.L204L	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						GCTCCACTCTCCTACATGGGC	0.507													8	67					0	0	1	0	0	T	48920026	C	T	48920026	2	4	213	1	0	0	0	0	0	0	0	1	11293	842	30	2		2	OR8S1	12	48920026	Silent	SNP	C	TCGA-HC-A6HX-01A-11D-A31L-08		48920026	84931869	12	10031											
SELPLG	0	broad.mit.edu	37	chr12	109017473	109017473	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccatggctgctggtgcaGtggtctgtgcctccatggct	3	13	13	12	0	1	0	0	0	1	0	3	0	3	0	3	4	3	4	3	4	0	1			TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr12:109017473G>A	ENST00000388962.3	-	3	740	c.581C>T	c.(580-582)aCt>aTt	p.T194I	SELPLG_ENST00000550948.1_Missense_Mutation_p.T204I|SELPLG_ENST00000228463.6_Missense_Mutation_p.T220I	NM_003006.4	NP_002997.2	Q14242	SELPL_HUMAN	selectin P ligand	204	12 X 10 AA tandem repeats.				blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						TGCTGGTGCAGTGGTCTGTGC	0.612													11	42					0	0	1	0	0	A	109017473	G	A	109017473	3	1	213	1	0	0	0	0	1	0	0	0	14074	1029	36	2	631	2	SELPLG	12	109017473	Missense_Mutation	SNP	G	TCGA-HC-A6HX-01A-11D-A31L-08	60097447	109017473	24834422	13	10032											
NOS1	4842	broad.mit.edu	37	chr12	117723067	117723067	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgaggttccctttgttggtgGcatacttgacatggttacag	7	15	12	7	0	0	2	0	2	0	0	1	2	1	2	1	4	2	4	1	4	2	6			TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr12:117723067G>A	ENST00000317775.6	-	7	2046	c.1361C>T	c.(1360-1362)gCc>gTc	p.A454V	NOS1_ENST00000338101.4_Missense_Mutation_p.A454V|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	454					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TTTGTTGGTGGCATACTTGAC	0.552													3	32					0	0	1	0	0	A	117723067	G	A	117723067	3	1	213	1	0	0	0	0	1	0	0	0	10588	1203	42	2	3035	2	NOS1	12	117723067	Missense_Mutation	SNP	G	TCGA-HC-A6HX-01A-11D-A31L-08	8705594	117723067	16128828	14	10033											
KSR2	283455	broad.mit.edu	37	chr12	117977596	117977596	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggagaaggcggcgtggcacTaggagggagggggggtgctg	7	4	25	5	2	0	1	0	0	0	1	0	4	0	3	0	9	1	2	0	9	2	1			TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr12:117977596T>G	ENST00000425217.1	-	10	1582	c.1528A>C	c.(1528-1530)Agt>Cgt	p.S510R	KSR2_ENST00000339824.5_Missense_Mutation_p.S539R|KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000302438.5_Missense_Mutation_p.S236R	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	539	Pro-rich.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGCGTGGCACTAGGAGGGAGG	0.642													8	65					0	0	1	0	0	G	117977596	T	G	117977596	3	3	213	1	0	0	0	0	1	0	0	0	8621	1522	53	5	1281	5	KSR2	12	117977596	Missense_Mutation	SNP	T	TCGA-HC-A6HX-01A-11D-A31L-08	254529	117977596	15874299	15	10034											
ZIC5	85416	broad.mit.edu	37	chr13	100623637	100623637	+	Frame_Shift_Del	DEL	T	T	-																															tgaggcccagcgtgctcgccTgggccatgtgctcgggtccg																										TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr13:100623637delT	ENST00000267294.4	-	1	526	c.293delA	c.(292-294)cgfs	p.Q98fs		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	98					cell differentiation	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CGTGCTCGCCTGGGCCATGTG	0.771													2	4	---	---	---	---						-	100623637	T	-	100623637	7	5	213	1	0	1	0	1	0	0	0	0	17740	1580	55	0	1706	0	ZIC5	13	100623637	Frame_Shift_Del	DEL	T	TCGA-HC-A6HX-01A-11D-A31L-08		100623637	14546241	16	10035											
LCMT2	9836	broad.mit.edu	37	chr15	43621413	43621413	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accagaacccgactctctgaGagtcttgtcatggtgtgata	10	11	10	10	1	3	3	1	2	2	2	4	5	3	3	2	1	1	0	2	1	2	2			TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr15:43621413G>A	ENST00000305641.5	-	1	1390	c.1275C>T	c.(1273-1275)ctC>ctT	p.L425L	LCMT2_ENST00000567039.1_3'UTR|LCMT2_ENST00000544735.1_Silent_p.L4L	NM_014793.4	NP_055608.2	O60294	LCMT2_HUMAN	leucine carboxyl methyltransferase 2	425					tRNA processing		methyltransferase activity|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	GACTCTCTGAGAGTCTTGTCA	0.488													9	86					0	0	1	0	0	A	43621413	G	A	43621413	2	1	213	1	0	0	0	0	0	0	0	1	8718	929	33	2		2	LCMT2	15	43621413	Silent	SNP	G	TCGA-HC-A6HX-01A-11D-A31L-08		43621413	58909979	17	10036											
NR2F2	7026	broad.mit.edu	37	chr15	96875647	96875647	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgcaagagcttcttcaagCgcagcgtgcggaggaacctg	9	7	14	11	3	2	1	1	0	1	1	2	3	2	3	1	2	6	4	1	2	3	2			TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr15:96875647C>G	ENST00000394166.3	+	1	1702	c.313C>G	c.(313-315)Cgc>Ggc	p.R105G	NR2F2_ENST00000421109.2_Intron	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	105					lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			CTTCTTCAAGCGCAGCGTGCG	0.612													3	31					0	0	1	0	0	G	96875647	C	G	96875647	3	3	213	1	0	0	0	0	1	0	0	0	10676	768	27	4	362	4	NR2F2	15	96875647	Missense_Mutation	SNP	C	TCGA-HC-A6HX-01A-11D-A31L-08	53254234	96875647	5655745	18	10037											
CPPED1	55313	broad.mit.edu	37	chr16	12875121	12875121	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgttgatggcctggacggcTtgctcagttagacggatctc	6	13	13	9	2	2	2	1	1	1	1	3	4	2	4	1	4	1	4	1	4	1	4			TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr16:12875121T>C	ENST00000381774.4	-	2	450	c.210A>G	c.(208-210)caA>caG	p.Q70Q	CPPED1_ENST00000261660.4_Silent_p.Q70Q|CPPED1_ENST00000433677.2_Silent_p.Q70Q	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain containing 1	70							hydrolase activity|metal ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						CCTGGACGGCTTGCTCAGTTA	0.572													4	38					0	0	1	0	0	C	12875121	T	C	12875121	2	2	213	1	0	0	0	0	0	0	0	1	3845	1606	56	3		3	CPPED1	16	12875121	Silent	SNP	T	TCGA-HC-A6HX-01A-11D-A31L-08		12875121	77479632	19	10038											
CDK12	51755	broad.mit.edu	37	chr17	37618973	37618973	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaaaacagtggacagcccaAaacggagatccaggagcccc	16	2	10	13	1	0	1	0	0	0	1	1	4	1	3	4	3	4	0	4	3	4	0			TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr17:37618973A>T	ENST00000447079.4	+	1	682	c.649A>T	c.(649-651)Aaa>Taa	p.K217*	CDK12_ENST00000430627.2_Nonsense_Mutation_p.K217*	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	217					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						GGACAGCCCAAAACGGAGATC	0.502			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)			11	98					0	0	1	0	0	T	37618973	A	T	37618973	4	4	213	1	0	0	0	0	0	1	0	0	3150	15	1	5	651	5	CDK12	17	37618973	Nonsense_Mutation	SNP	A	TCGA-HC-A6HX-01A-11D-A31L-08		37618973	43576237	20	10039											
CDK12	51755	broad.mit.edu	37	chr17	37667841	37667841	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acctccagaactactgctagGagaggaacgttacacaccag	14	6	9	12	1	0	2	0	0	0	2	1	4	1	3	3	2	5	2	3	2	5	3			TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr17:37667841G>A	ENST00000447079.4	+	8	2759	c.2726G>A	c.(2725-2727)gGa>gAa	p.G909E	CDK12_ENST00000430627.2_Missense_Mutation_p.G909E	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	909	Protein kinase.				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						CTACTGCTAGGAGAGGAACGT	0.398			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)			8	54					0	0	1	0	0	A	37667841	G	A	37667841	3	1	213	1	0	0	0	0	1	0	0	0	3150	1174	41	2	2756	2	CDK12	17	37667841	Missense_Mutation	SNP	G	TCGA-HC-A6HX-01A-11D-A31L-08	48868	37667841	43527369	21	10040											
UBTF	7343	broad.mit.edu	37	chr17	42293035	42293035	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccccaccttcttcttctccGgaagctccttgtatttcttg	4	16	5	16	1	4	0	0	0	4	0	6	1	5	1	5	1	1	2	5	1	2	7			TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr17:42293035G>A	ENST00000302904.4	-	5	953	c.461C>T	c.(460-462)cCg>cTg	p.P154L	UBTF_ENST00000529383.1_Missense_Mutation_p.P154L|UBTF_ENST00000527034.1_Missense_Mutation_p.P154L|UBTF_ENST00000526094.1_Missense_Mutation_p.P154L|UBTF_ENST00000436088.1_Missense_Mutation_p.P154L|UBTF_ENST00000343638.5_Missense_Mutation_p.P154L|UBTF_ENST00000393606.3_Missense_Mutation_p.P154L|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000537550.1_5'UTR|UBTF_ENST00000533177.1_Missense_Mutation_p.P154L			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	154					positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CTTCTTCTCCGGAAGCTCCTT	0.557													14	136					0	0	1	0	0	A	42293035	G	A	42293035	3	1	213	1	0	0	0	0	1	0	0	0	16970	1116	39	1	1901	1	UBTF	17	42293035	Missense_Mutation	SNP	G	TCGA-HC-A6HX-01A-11D-A31L-08	4625194	42293035	38902175	22	10041											
CPAMD8	27151	broad.mit.edu	37	chr19	17015110	17015110	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaggcagggcggcagccaCgtcacccagcagagtgtagg	10	3	15	13	2	1	1	1	0	0	1	1	1	1	1	2	4	2	4	2	4	1	1			TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr19:17015110C>T	ENST00000443236.1	-	32	4349	c.4318G>A	c.(4318-4320)Gtg>Atg	p.V1440M		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1393						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GCGGCAGCCACGTCACCCAGC	0.632													6	45					0	0	1	0	0	T	17015110	C	T	17015110	3	4	213	1	0	0	0	0	1	0	0	0	3818	536	19	1	1524	1	CPAMD8	19	17015110	Missense_Mutation	SNP	C	TCGA-HC-A6HX-01A-11D-A31L-08		17015110	42113873	23	10042											
ZNF480	147657	broad.mit.edu	37	chr19	52825756	52825756	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcaaatcttgcacgacatcGaagaattcatactggagaga	15	10	8	8	2	3	2	2	0	1	2	4	6	3	3	0	1	2	1	0	1	4	4			TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chr19:52825756G>A	ENST00000595962.1	+	5	1319	c.1253G>A	c.(1252-1254)cGa>cAa	p.R418Q	ZNF480_ENST00000335090.6_Missense_Mutation_p.R341Q|ZNF480_ENST00000334564.7_Missense_Mutation_p.R375Q|ZNF480_ENST00000490272.1_3'UTR|CTD-2525I3.6_ENST00000594379.1_RNA	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	418					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		GCACGACATCGAAGAATTCAT	0.373													13	89					0	0	1	0	0	A	52825756	G	A	52825756	3	1	213	1	0	0	0	0	1	0	0	0	17992	1058	37	1	1267	1	ZNF480	19	52825756	Missense_Mutation	SNP	G	TCGA-HC-A6HX-01A-11D-A31L-08	35810646	52825756	6303227	24	10043											
FAM47C	442444	broad.mit.edu	37	chrX	37027275	37027275	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccacctggagcctcccgaGactggagtgtcccatctcta	7	9	9	16	1	1	1	0	0	1	1	5	4	4	3	5	2	1	0	5	2	1	1			TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chrX:37027275G>T	ENST00000358047.3	+	1	844	c.792G>T	c.(790-792)gaG>gaT	p.E264D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	264										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AGCCTCCCGAGACTGGAGTGT	0.612													9	58					0.00829132	0.00851541	1	1	0	T	37027275	G	T	37027275	3	4	213	1	0	0	0	0	1	0	0	0	5607	933	33	4	794	4	FAM47C	23	37027275	Missense_Mutation	SNP	G	TCGA-HC-A6HX-01A-11D-A31L-08		37027275	118243285	25	10044			1	26		2	2	101	N	G_C	8.721462e-05
FAM47C	442444	broad.mit.edu	37	chrX	37027375	37027375	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tatctcatctccatcgggagCctcctgagactggagtgcct	7	11	10	13	1	2	1	1	1	2	1	6	4	3	3	4	2	2	0	4	2	1	1			TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chrX:37027375C>T	ENST00000358047.3	+	1	944	c.892C>T	c.(892-894)Cct>Tct	p.P298S		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	298										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCATCGGGAGCCTCCTGAGAC	0.592													15	57					0	0	1	0	0	T	37027375	C	T	37027375	3	4	213	1	0	0	0	0	1	0	0	0	5607	739	26	2	894	2	FAM47C	23	37027375	Missense_Mutation	SNP	C	TCGA-HC-A6HX-01A-11D-A31L-08	100	37027375	118243185	26	10045			1	26		2	2	101	N	G_C	8.721462e-05
PASD1	139135	broad.mit.edu	37	chrX	150828276	150828276	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcaacttattgctccagtaCagttttcctggatactatgc	9	16	6	10	0	1	0	1	0	0	0	3	1	3	1	2	1	5	3	2	1	5	8			TCGA-HC-A6HX-01A-11D-A31L-08	TCGA-HC-A6HX-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c58837d2-3931-4d77-87bd-24dbb7517c19	7c56bd41-657a-4710-a03e-7fd4e035847b	g.chrX:150828276C>G	ENST00000370357.4	+	10	1054	c.809C>G	c.(808-810)aCa>aGa	p.T270R		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	270						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					TGCTCCAGTACAGTTTTCCTG	0.403													4	37					0	0	1	0	0	G	150828276	C	G	150828276	3	3	213	1	0	0	0	0	1	0	0	0	11518	478	17	4	843	4	PASD1	23	150828276	Missense_Mutation	SNP	C	TCGA-HC-A6HX-01A-11D-A31L-08	113800901	150828276	4442284	27	10046											
LRRC7	57554	broad.mit.edu	37	chr1	70504094	70504094	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgttcccctggaactcgagCagtctacacacagacacaca	12	7	8	14	1	1	1	0	0	1	1	3	3	2	2	2	1	3	2	2	1	2	2			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr1:70504094C>T	ENST00000310961.5	+	22	2906	c.2488C>T	c.(2488-2490)Cag>Tag	p.Q830*	LRRC7_ENST00000415775.2_Nonsense_Mutation_p.Q109*|LRRC7_ENST00000035383.5_Nonsense_Mutation_p.Q825*			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	825						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GGAACTCGAGCAGTCTACACA	0.493													30	45					0	0	1	0	0	T	70504094	C	T	70504094	4	4	214	1	0	0	0	0	0	1	0	0	9065	711	25	2	2547	2	LRRC7	1	70504094	Nonsense_Mutation	SNP	C	TCGA-HC-A6HY-01A-11D-A31L-08		70504094	178746527	1	10047											
LRRC8B	23507	broad.mit.edu	37	chr1	90048354	90048354	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggagctctccagctgacgCagagcagggttctgtgctgt	6	9	14	12	2	2	2	0	1	2	1	3	3	2	3	2	2	4	6	2	2	0	1			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr1:90048354C>T	ENST00000330947.2	+	5	505	c.145C>T	c.(145-147)Cag>Tag	p.Q49*	LRRC8B_ENST00000439853.1_Nonsense_Mutation_p.Q49*|LRRC8B_ENST00000358200.4_Nonsense_Mutation_p.Q49*	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	49						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		CCAGCTGACGCAGAGCAGGGT	0.507													5	87					0	0	1	0	0	T	90048354	C	T	90048354	4	4	214	1	0	0	0	0	0	1	0	0	9067	711	25	2	147	2	LRRC8B	1	90048354	Nonsense_Mutation	SNP	C	TCGA-HC-A6HY-01A-11D-A31L-08	19544260	90048354	159202267	2	10048											
KIDINS220	57498	broad.mit.edu	37	chr2	8940605	8940605	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgaccacctctgacagcGccaatcaacacagtatcccc	13	6	5	17	1	2	2	1	2	1	0	3	2	3	2	5	0	2	1	5	0	3	1			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr2:8940605G>A	ENST00000256707.3	-	9	1006	c.825C>T	c.(823-825)ggC>ggT	p.G275G	KIDINS220_ENST00000473731.1_Silent_p.G275G|KIDINS220_ENST00000319688.5_Silent_p.G276G|KIDINS220_ENST00000427284.1_Silent_p.G275G|KIDINS220_ENST00000418530.1_Silent_p.G233G	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	275					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTCTGACAGCGCCAATCAACA	0.373													5	179					0	0	1	0	0	A	8940605	G	A	8940605	2	1	214	1	0	0	0	0	0	0	0	1	8313	1074	38	1		1	KIDINS220	2	8940605	Silent	SNP	G	TCGA-HC-A6HY-01A-11D-A31L-08		8940605	234258768	3	10049											
SNX17	9784	broad.mit.edu	37	chr2	27599352	27599352	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcttcttccccaggagtcaCctgatgccacccgggagtct	6	10	9	16	1	4	1	1	1	3	0	5	3	5	3	5	2	1	0	5	2	0	2			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr2:27599352C>T	ENST00000233575.2	+	14	1486	c.1264C>T	c.(1264-1266)Cct>Tct	p.P422S	SNX17_ENST00000542478.1_Missense_Mutation_p.P208S|SNX17_ENST00000543024.1_Missense_Mutation_p.P208S|SNX17_ENST00000537606.1_Missense_Mutation_p.P397S	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN	sorting nexin 17	422					cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction	cytoplasmic vesicle membrane|cytosol|early endosome|Golgi apparatus	low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAGGAGTCACCTGATGCCAC	0.547													32	99					0	0	1	0	0	T	27599352	C	T	27599352	3	4	214	1	0	0	0	0	1	0	0	0	14942	507	18	2	1318	2	SNX17	2	27599352	Missense_Mutation	SNP	C	TCGA-HC-A6HY-01A-11D-A31L-08	18658747	27599352	215600021	4	10050											
TTN	7273	broad.mit.edu	37	chr2	179584367	179584367	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atcctttgtcactcatttcgGcacaggggattttaagggaa	10	13	10	8	1	2	0	2	0	0	0	4	2	3	2	1	4	0	1	1	4	2	4			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr2:179584367G>T	ENST00000589042.1	-	82	24076	c.23852C>A	c.(23851-23853)gCc>gAc	p.A7951D	TTN_ENST00000342992.6_Missense_Mutation_p.A6707D|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.A7634D|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7634	Ig-like 62.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTCATTTCGGCACAGGGGAT	0.408													5	117					0.000602214	0.000602214	1	1	0	T	179584367	G	T	179584367	3	4	214	1	0	0	0	0	1	0	0	0	16797	1203	42	4	80801	4	TTN	2	179584367	Missense_Mutation	SNP	G	TCGA-HC-A6HY-01A-11D-A31L-08	151985015	179584367	63615006	5	10051											
TTN	7273	broad.mit.edu	37	chr2	179623770	179623770	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcattactagcaacaaacGtgtaagttccttcatcttct	12	13	5	11	1	3	0	1	0	2	0	4	0	4	0	1	0	5	4	1	0	5	6			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr2:179623770G>A	ENST00000589042.1	-	44	10468	c.10244C>T	c.(10243-10245)aCg>aTg	p.T3415M	TTN_ENST00000360870.5_Missense_Mutation_p.T3415M|TTN_ENST00000342992.6_Missense_Mutation_p.T3415M|TTN_ENST00000342175.6_Missense_Mutation_p.T3369M|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T3369M|TTN_ENST00000591111.1_Missense_Mutation_p.T3415M|TTN_ENST00000359218.5_Missense_Mutation_p.T3369M	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3128	Ig-like 20.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCAACAAACGTGTAAGTTCC	0.383													19	52					0	0	1	0	0	A	179623770	G	A	179623770	3	1	214	1	0	0	0	0	1	0	0	0	16797	1145	40	1	101020	1	TTN	2	179623770	Missense_Mutation	SNP	G	TCGA-HC-A6HY-01A-11D-A31L-08	39403	179623770	63575603	6	10052											
KLHL30	377007	broad.mit.edu	37	chr2	239049642	239049642	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgggacgtggagcccgccGtggtgggacaactggtggac	6	6	19	10	4	0	0	0	0	0	0	0	4	0	4	2	6	3	0	2	6	1	0			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr2:239049642G>C	ENST00000409223.1	+	2	354	c.247G>C	c.(247-249)Gtg>Ctg	p.V83L	KLHL30_ENST00000305959.4_Missense_Mutation_p.V65L			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	83	BTB.									lung(4)	4		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;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GGAGCCCGCCGTGGTGGGACA	0.672													59	136					0	0	1	0	0	C	239049642	G	C	239049642	3	2	214	1	0	0	0	0	1	0	0	0	8427	1145	40	4	249	4	KLHL30	2	239049642	Missense_Mutation	SNP	G	TCGA-HC-A6HY-01A-11D-A31L-08	59425872	239049642	4149731	7	10053											
RAP2B	5912	broad.mit.edu	37	chr3	152880765	152880765	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agagcttccaggacatcaagCccatgcgggaccagatcatc	12	6	10	13	1	2	2	2	0	0	2	4	4	3	4	3	2	3	1	3	2	1	1			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr3:152880765C>A	ENST00000323534.2	+	1	737	c.283C>A	c.(283-285)Ccc>Acc	p.P95T		NM_002886.2	NP_002877.2	P61225	RAP2B_HUMAN	RAP2B, member of RAS oncogene family	95					Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			GGACATCAAGCCCATGCGGGA	0.612													4	92					0.00024832	0.000254528	1	1	0	A	152880765	C	A	152880765	3	1	214	1	0	0	0	0	1	0	0	0	13093	739	26	4	285	4	RAP2B	3	152880765	Missense_Mutation	SNP	C	TCGA-HC-A6HY-01A-11D-A31L-08		152880765	45141665	8	10054											
GABRG1	2565	broad.mit.edu	37	chr4	46067417	46067417	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcgtccatcattccaaattCgaagcagacgattaggagtt	12	11	8	10	3	1	1	1	0	0	1	5	4	3	2	2	1	1	2	2	1	3	4			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr4:46067417C>T	ENST00000295452.4	-	4	673	c.506G>A	c.(505-507)cGa>cAa	p.R169Q		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	169					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		ATTCCAAATTCGAAGCAGACG	0.323													21	33					0	0	1	0	0	T	46067417	C	T	46067417	3	4	214	1	0	0	0	0	1	0	0	0	6206	884	31	1	915	1	GABRG1	4	46067417	Missense_Mutation	SNP	C	TCGA-HC-A6HY-01A-11D-A31L-08		46067417	145086859	9	10055											
DCHS2	54798	broad.mit.edu	37	chr4	155298502	155298502	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccatcatgagggtcgatcCggaatgcctgaggtgcttca	8	9	13	11	2	2	2	2	2	0	0	4	4	3	3	3	3	2	1	3	3	1	1			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr4:155298502C>T	ENST00000357232.3	-	3	328	c.329G>A	c.(328-330)cGg>cAg	p.R110Q	DCHS2_ENST00000339452.1_Missense_Mutation_p.R716Q	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	110	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AGGGTCGATCCGGAATGCCTG	0.468													29	59					0	0	1	0	0	T	155298502	C	T	155298502	3	4	214	1	0	0	0	0	1	0	0	0	4311	652	23	1	8609	1	DCHS2	4	155298502	Missense_Mutation	SNP	C	TCGA-HC-A6HY-01A-11D-A31L-08	109231085	155298502	35855774	10	10056											
TGFBI	7045	broad.mit.edu	37	chr5	135390426	135390426	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggaacccctccaattgatgCccatacaaggaatttgcttc	11	11	7	12	0	0	1	0	1	0	0	2	3	1	3	4	2	4	1	4	2	5	4			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr5:135390426C>T	ENST00000442011.2	+	10	1447	c.1286C>T	c.(1285-1287)gCc>gTc	p.A429V	TGFBI_ENST00000305126.8_Missense_Mutation_p.A429V	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	429	FAS1 3.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCAATTGATGCCCATACAAGG	0.453													5	333					0	0	1	0	0	T	135390426	C	T	135390426	3	4	214	1	0	0	0	0	1	0	0	0	15880	739	26	2	1324	2	TGFBI	5	135390426	Missense_Mutation	SNP	C	TCGA-HC-A6HY-01A-11D-A31L-08		135390426	45524834	11	10057											
KLC4	89953	broad.mit.edu	37	chr6	43038170	43038170	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcagagcctctgtgccagCgggcactggagattcgagaa	10	6	15	10	2	1	3	0	0	1	3	2	5	1	3	2	3	3	2	2	3	1	1			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr6:43038170C>T	ENST00000394056.2	+	8	1453	c.958C>T	c.(958-960)Cgg>Tgg	p.R320W	KLC4_ENST00000347162.5_Missense_Mutation_p.R320W|KLC4_ENST00000453940.2_Missense_Mutation_p.R243W|KLC4_ENST00000479388.1_Missense_Mutation_p.R320W|KLC4_ENST00000259708.3_Missense_Mutation_p.R338W|KLC4_ENST00000394058.1_Missense_Mutation_p.R320W			Q9NSK0	KLC4_HUMAN	kinesin light chain 4	320						cytoplasm|kinesin complex|microtubule	microtubule motor activity|protein binding			endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			TCTGTGCCAGCGGGCACTGGA	0.557											OREG0017448	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	47					0	0	1	0	0	T	43038170	C	T	43038170	3	4	214	1	0	0	0	0	1	0	0	0	8379	759	27	1	1107	1	KLC4	6	43038170	Missense_Mutation	SNP	C	TCGA-HC-A6HY-01A-11D-A31L-08		43038170	128076897	12	10058											
PDK4	5166	broad.mit.edu	37	chr7	95217071	95217071	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcttcttttcccaagacaaCaataacctctattggtgtaa	12	14	5	10	0	3	1	0	0	3	1	4	1	4	1	2	1	2	1	2	1	6	7			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr7:95217071C>T	ENST00000005178.5	-	8	1035	c.838G>A	c.(838-840)Gtt>Att	p.V280I		NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	pyruvate dehydrogenase kinase, isozyme 4	280	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			CCCAAGACAACAATAACCTCT	0.388													3	34					0	0	1	0	0	T	95217071	C	T	95217071	3	4	214	1	0	0	0	0	1	0	0	0	11725	478	17	2	413	2	PDK4	7	95217071	Missense_Mutation	SNP	C	TCGA-HC-A6HY-01A-11D-A31L-08		95217071	63921592	13	10059											
ZFHX4	79776	broad.mit.edu	37	chr8	77766907	77766907	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccctaaaaaggaaactagacGataaagaagataataattgc	21	7	7	6	1	0	3	0	0	0	3	0	5	0	4	1	1	2	0	1	1	10	6			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr8:77766907G>A	ENST00000521891.2	+	10	8198	c.7750G>A	c.(7750-7752)Gat>Aat	p.D2584N	ZFHX4_ENST00000518282.1_Missense_Mutation_p.D2558N|ZFHX4_ENST00000050961.6_Missense_Mutation_p.D2539N|ZFHX4_ENST00000455469.2_Missense_Mutation_p.D2539N	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2539						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GAAACTAGACGATAAAGAAGA	0.507										HNSCC(33;0.089)			4	48					0	0	1	0	0	A	77766907	G	A	77766907	3	1	214	1	0	0	0	0	1	0	0	0	17693	1058	37	1	7784	1	ZFHX4	8	77766907	Missense_Mutation	SNP	G	TCGA-HC-A6HY-01A-11D-A31L-08		77766907	68597115	14	10060											
PKHD1L1	93035	broad.mit.edu	37	chr8	110464996	110464996	+	Frame_Shift_Del	DEL	G	G	-																															ctggtcctccaatttctcatGggggggaaaatctcccccag																										TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr8:110464996delG	ENST00000378402.5	+	43	6661	c.6557delG	c.(6556-6558)tgfs	p.W2186fs		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2186	G8 1.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AATTTCTCATGGGGGGGAAAA	0.388										HNSCC(38;0.096)			2	4	---	---	---	---						-	110464996	G	-	110464996	7	5	214	1	0	1	0	1	0	0	0	0	12020	1357	47	0	6727	0	PKHD1L1	8	110464996	Frame_Shift_Del	DEL	G	TCGA-HC-A6HY-01A-11D-A31L-08	32698089	110464996	35899026	15	10061											
CHST3	9469	broad.mit.edu	37	chr10	73767311	73767311	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcgagcgcacagtgtccttCgagccggggggcgccaacgc	7	5	15	14	6	0	0	0	0	0	0	3	2	1	0	3	3	3	1	3	3	1	1			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr10:73767311C>T	ENST00000373115.4	+	3	959	c.522C>T	c.(520-522)ttC>ttT	p.F174F		NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN	carbohydrate (chondroitin 6) sulfotransferase 3	174					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity			endometrium(1)|lung(5)	6						CAGTGTCCTTCGAGCCGGGGG	0.647													6	17					0	0	1	0	0	T	73767311	C	T	73767311	2	4	214	1	0	0	0	0	0	0	0	1	3427	883	31	1		1	CHST3	10	73767311	Silent	SNP	C	TCGA-HC-A6HY-01A-11D-A31L-08		73767311	61767436	16	10062											
OR51I1	390063	broad.mit.edu	37	chr11	5462694	5462694	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttgtatcccaggaatgccTgtcagctggagtgttgctgg	6	13	14	8	0	1	0	1	0	0	0	2	2	2	2	2	3	3	5	2	3	2	3			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr11:5462694T>A	ENST00000380211.1	-	1	50	c.51A>T	c.(49-51)acA>acT	p.T17T	AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGGAATGCCTGTCAGCTGGA	0.522													26	49					0	0	1	0	0	A	5462694	T	A	5462694	2	1	214	1	0	0	0	0	0	0	0	1	11148	1567	55	5		5	OR51I1	11	5462694	Silent	SNP	T	TCGA-HC-A6HY-01A-11D-A31L-08		5462694	129543822	17	10063											
CTR9	9646	broad.mit.edu	37	chr11	10800225	10800225	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accaatgatcatctttgccaGacatcccaggaacagcaaca	15	7	6	13	0	2	2	1	1	1	1	3	3	3	3	3	1	4	1	3	1	3	1			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr11:10800225G>C	ENST00000361367.2	+	25	3521		c.e25-1			NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component						histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		ATCTTTGCCAGACATCCCAGG	0.448													13	23					0	0	1	0	0	C	10800225	G	C	10800225	5	2	214	1	0	0	0	0	0	0	1	0	4048	956	33	4	3193	4	CTR9	11	10800225	Splice_Site	SNP	G	TCGA-HC-A6HY-01A-11D-A31L-08	5337531	10800225	124206291	18	10064											
RAG2	5897	broad.mit.edu	37	chr11	36615227	36615227	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttctgtggttctgtgggtAgaaggcatgtatgagcgtcc	6	15	14	6	1	2	2	0	1	2	1	3	2	3	2	1	3	1	4	1	3	3	5			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr11:36615227A>G	ENST00000311485.3	-	2	653	c.492T>C	c.(490-492)tcT>tcC	p.S164S		NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	164					chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				TTCTGTGGGTAGAAGGCATGT	0.453									Familial Hemophagocytic Lymphohistiocytosis				40	63					0	0	1	0	0	G	36615227	A	G	36615227	2	3	214	1	0	0	0	0	0	0	0	1	13057	407	15	3		3	RAG2	11	36615227	Silent	SNP	A	TCGA-HC-A6HY-01A-11D-A31L-08	25815002	36615227	98391289	19	10065											
OR4S1	256148	broad.mit.edu	37	chr11	48328501	48328501	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccacatgtggctcacacgtaAtcactgtccttttggttctc	7	14	7	13	1	3	0	2	0	1	0	5	0	4	0	2	2	0	3	2	2	1	4			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr11:48328501A>T	ENST00000319988.1	+	1	727	c.727A>T	c.(727-729)Atc>Ttc	p.I243F		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						CTCACACGTAATCACTGTCCT	0.453													41	93					0	0	1	0	0	T	48328501	A	T	48328501	3	4	214	1	0	0	0	0	1	0	0	0	11130	101	4	5	729	5	OR4S1	11	48328501	Missense_Mutation	SNP	A	TCGA-HC-A6HY-01A-11D-A31L-08	11713274	48328501	86678015	20	10066											
OR5B2	390190	broad.mit.edu	37	chr11	58190360	58190360	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggtgtagtgtaggggtttGcacactgctgcatagcggtc	6	12	16	7	1	0	0	0	0	0	0	1	0	0	0	0	4	4	6	0	4	3	4			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr11:58190360G>T	ENST00000302581.2	-	1	426	c.375C>A	c.(373-375)tgC>tgA	p.C125*		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C125C(1)		NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GTAGGGGTTTGCACACTGCTG	0.507													28	49					1.42536e-11	1.49845e-11	1	1	0	T	58190360	G	T	58190360	4	4	214	1	0	0	0	0	0	1	0	0	11197	1311	46	4	558	4	OR5B2	11	58190360	Nonsense_Mutation	SNP	G	TCGA-HC-A6HY-01A-11D-A31L-08	9861859	58190360	76816156	21	10067											
POU2AF1	5450	broad.mit.edu	37	chr11	111228347	111228347	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaggggctgcagggtggcCggggtgggctgggagagcca	5	4	23	9	1	0	1	0	0	0	1	0	2	0	1	3	8	2	3	3	8	0	0			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr11:111228347C>T	ENST00000393067.3	-	4	793	c.279G>A	c.(277-279)ccG>ccA	p.P93P		NM_006235.2	NP_006226.2	Q16633	OBF1_HUMAN	POU class 2 associating factor 1	93					humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|kidney(2)|lung(2)	5		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)		GCAGGGTGGCCGGGGTGGGCT	0.627			T	BCL6	NHL								3	41					0	0	1	0	0	T	111228347	C	T	111228347	2	4	214	1	0	0	0	0	0	0	0	1	12316	639	23	1		1	POU2AF1	11	111228347	Silent	SNP	C	TCGA-HC-A6HY-01A-11D-A31L-08	53037987	111228347	23778169	22	10068											
CLEC4A	50856	broad.mit.edu	37	chr12	8290795	8290795	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcgttgtgctaaattttcGtaaatcacccaaaagatggg	12	12	9	8	2	1	1	1	0	0	1	2	1	1	1	1	1	2	3	1	1	6	5			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr12:8290795G>A	ENST00000229332.5	+	6	873	c.626G>A	c.(625-627)cGt>cAt	p.R209H	CLEC4A_ENST00000345999.3_Missense_Mutation_p.R137H|CLEC4A_ENST00000360500.3_Missense_Mutation_p.R170H|CLEC4A_ENST00000352620.3_Missense_Mutation_p.R176H	NM_016184.3|NM_194447.2|NM_194450.2	NP_057268.1|NP_919429.2|NP_919432.1	Q9UMR7	CLC4A_HUMAN	C-type lectin domain family 4, member A	209	C-type lectin.				cell adhesion|cell surface receptor linked signaling pathway|innate immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)	11				Kidney(36;0.0915)		CTAAATTTTCGTAAATCACCC	0.433													9	70					0	0	1	0	0	A	8290795	G	A	8290795	3	1	214	1	0	0	0	0	1	0	0	0	3535	1145	40	1	648	1	CLEC4A	12	8290795	Missense_Mutation	SNP	G	TCGA-HC-A6HY-01A-11D-A31L-08		8290795	125561100	23	10069											
SLC41A2	84102	broad.mit.edu	37	chr12	105198937	105198937	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tttgtagaatttattagtctCcaacatctccatctcgatct	10	17	4	10	1	4	1	0	0	4	1	7	2	4	1	2	0	1	1	2	0	5	5			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr12:105198937C>G	ENST00000258538.3	-	10	1842	c.1715G>C	c.(1714-1716)gGa>gCa	p.G572A	SLC41A2_ENST00000549713.1_5'UTR	NM_032148.3	NP_115524.3	Q96JW4	S41A2_HUMAN	solute carrier family 41 (magnesium transporter), member 2	572						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	22						TTATTAGTCTCCAACATCTCC	0.393													5	264					0	0	1	0	0	G	105198937	C	G	105198937	3	3	214	1	0	0	0	0	1	0	0	0	14685	855	30	4	10	4	SLC41A2	12	105198937	Missense_Mutation	SNP	C	TCGA-HC-A6HY-01A-11D-A31L-08	96908142	105198937	28652958	24	10070											
AHNAK2	113146	broad.mit.edu	37	chr14	105419464	105419464	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctttcaggtccagcttggggCccttgaggtccactttgggc	4	12	13	12	0	1	1	1	1	0	0	3	1	3	1	3	5	1	1	3	5	0	4			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr14:105419464C>T	ENST00000333244.5	-	7	2443	c.2324G>A	c.(2323-2325)gGc>gAc	p.G775D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	775						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CAGCTTGGGGCCCTTGAGGTC	0.632													93	177					0	0	1	0	0	T	105419464	C	T	105419464	3	4	214	1	0	0	0	0	1	0	0	0	412	739	26	2	15067	2	AHNAK2	14	105419464	Missense_Mutation	SNP	C	TCGA-HC-A6HY-01A-11D-A31L-08		105419464	1930076	25	10071											
ACAN	176	broad.mit.edu	37	chr15	89402162	89402162	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggttcggggcatctgccGcccctgaggccagcagagaa	7	6	15	13	2	1	2	0	1	1	1	2	3	1	2	4	4	2	3	4	4	1	1			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr15:89402162G>A	ENST00000439576.2	+	12	6720	c.6346G>A	c.(6346-6348)Gcc>Acc	p.A2116T	ACAN_ENST00000559004.1_Missense_Mutation_p.A2116T|ACAN_ENST00000352105.7_Missense_Mutation_p.A2116T|ACAN_ENST00000561243.1_Missense_Mutation_p.A2116T	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	2116					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGCATCTGCCGCCCCTGAGGC	0.562													19	60					0	0	1	0	0	A	89402162	G	A	89402162	3	1	214	1	0	0	0	0	1	0	0	0	117	1087	38	1	6388	1	ACAN	15	89402162	Missense_Mutation	SNP	G	TCGA-HC-A6HY-01A-11D-A31L-08		89402162	13129230	26	10072											
GDE1	51573	broad.mit.edu	37	chr16	19519049	19519049	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaaagaacagaccacactaTtattatacagttgaggaaat	19	9	7	6	0	0	4	0	1	0	3	0	5	0	5	1	1	2	1	1	1	7	5			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr16:19519049T>C	ENST00000353258.3	-	4	776	c.596A>G	c.(595-597)aAt>aGt	p.N199S		NM_016641.3	NP_057725.1	Q9NZC3	GDE1_HUMAN	glycerophosphodiester phosphodiesterase 1	199	GDPD.				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol glycerophosphodiesterase activity|metal ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	13						GACCACACTATTATTATACAG	0.318													24	50					0	0	1	0	0	C	19519049	T	C	19519049	3	2	214	1	0	0	0	0	1	0	0	0	6351	1493	52	3	411	3	GDE1	16	19519049	Missense_Mutation	SNP	T	TCGA-HC-A6HY-01A-11D-A31L-08		19519049	70835704	27	10073											
ZFPM1	161882	broad.mit.edu	37	chr16	88593283	88593283	+	Frame_Shift_Del	DEL	C	C	-																															gctgaggacgctgccccaggCcctgactgaggccgaggcca																										TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr16:88593283delC	ENST00000319555.3	+	5	786	c.464delC	c.(463-465)gcfs	p.A155fs	RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	155					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|transcription factor binding|zinc ion binding			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		CTGCCCCAGGCCCTGACTGAG	0.677													2	4	---	---	---	---						-	88593283	C	-	88593283	7	5	214	1	0	1	0	1	0	0	0	0	17715	739	26	0	482	0	ZFPM1	16	88593283	Frame_Shift_Del	DEL	C	TCGA-HC-A6HY-01A-11D-A31L-08	69074234	88593283	1761470	28	10074											
MUC16	94025	broad.mit.edu	37	chr19	9069310	9069310	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatagcgtcctccatcatagAtccagtaacctttggaggtg	11	11	9	10	1	1	1	1	0	0	1	4	2	4	2	4	2	2	1	4	2	4	4			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr19:9069310A>G	ENST00000397910.4	-	3	18339	c.18136T>C	c.(18136-18138)Tct>Cct	p.S6046P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6048	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCCATCATAGATCCAGTAACC	0.458													45	87					0	0	1	0	0	G	9069310	A	G	9069310	3	3	214	1	0	0	0	0	1	0	0	0	10021	333	12	3	25715	3	MUC16	19	9069310	Missense_Mutation	SNP	A	TCGA-HC-A6HY-01A-11D-A31L-08		9069310	50059673	29	10075											
CRTC1	23373	broad.mit.edu	37	chr19	18856727	18856727	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggagcgtggccggctcggctCcccacaccgccggcccctgt	3	5	14	19	5	0	0	0	0	0	0	2	1	1	1	7	5	1	2	7	5	0	0			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr19:18856727C>T	ENST00000338797.6	+	4	411	c.386C>T	c.(385-387)tCc>tTc	p.S129F	CRTC1_ENST00000321949.8_Missense_Mutation_p.S113F|CRTC1_ENST00000594658.1_Missense_Mutation_p.S72F|CRTC1_ENST00000601916.1_Missense_Mutation_p.S38F	NM_001098482.1	NP_001091952.1	Q6UUV9	CRTC1_HUMAN	CREB regulated transcription coactivator 1	113					interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						CGGCTCGGCTCCCCACACCGC	0.692													35	62					0	0	1	0	0	T	18856727	C	T	18856727	3	4	214	1	0	0	0	0	1	0	0	0	3922	855	30	2	400	2	CRTC1	19	18856727	Missense_Mutation	SNP	C	TCGA-HC-A6HY-01A-11D-A31L-08	9787417	18856727	40272256	30	10076											
RFXANK	8625	broad.mit.edu	37	chr19	19309477	19309477	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacgacagaatggagggacGccactgctgtacgctgtgcg	9	6	14	12	4	0	1	0	0	0	1	0	4	0	3	2	2	3	3	2	2	2	1			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr19:19309477G>A	ENST00000303088.4	+	8	1050	c.576G>A	c.(574-576)acG>acA	p.T192T	RFXANK_ENST00000353145.1_Silent_p.T169T|RFXANK_ENST00000456252.3_Silent_p.T170T|RFXANK_ENST00000392324.4_Silent_p.T169T|RFXANK_ENST00000407360.3_Silent_p.T192T	NM_003721.2	NP_003712.1	O14593	RFXK_HUMAN	regulatory factor X-associated ankyrin-containing protein	192						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|lung(8)|ovary(2)|prostate(1)	14			Epithelial(12;0.00228)			ATGGAGGGACGCCACTGCTGT	0.592													34	61					0	0	1	0	0	A	19309477	G	A	19309477	2	1	214	1	0	0	0	0	0	0	0	1	13321	1074	38	1		1	RFXANK	19	19309477	Silent	SNP	G	TCGA-HC-A6HY-01A-11D-A31L-08	452750	19309477	39819506	31	10077											
TCF20	6942	broad.mit.edu	37	chr22	42611326	42611326	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcatactgttcagcagcaCagcagcaggccaacagccct	11	6	9	15	0	1	0	1	0	0	0	1	0	1	0	2	1	8	6	2	1	2	2			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chr22:42611326C>T	ENST00000359486.3	-	0	122				TCF20_ENST00000335626.4_De_novo_Start_InFrame	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TTCAGCAGCACAGCAGCAGGC	0.478													23	56					0	0	1	0	0	T	42611326	C	T	42611326	1	4	214	1	0	0	0	0	0	0	0	0	15750	493	17	2		2	TCF20	22	42611326	Translation_Start_Site	SNP	C	TCGA-HC-A6HY-01A-11D-A31L-08		42611326	8693240	32	10078											
GPR112	139378	broad.mit.edu	37	chrX	135487899	135487899	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacatctcagtggtggcttaTttttgcctcatatttctcat	7	19	6	9	0	3	0	3	0	2	0	5	0	3	0	1	2	2	1	1	2	3	6			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chrX:135487899T>C	ENST00000394143.1	+	23	8994	c.8703T>C	c.(8701-8703)taT>taC	p.Y2901Y	GPR112_ENST00000370652.1_Silent_p.Y2901Y|GPR112_ENST00000287534.4_Silent_p.Y2654Y|GPR112_ENST00000412101.1_Silent_p.Y2696Y|GPR112_ENST00000394141.1_Silent_p.Y2696Y	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2901					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TGGTGGCTTATTTTTGCCTCA	0.368													4	29					0	0	1	0	0	C	135487899	T	C	135487899	2	2	214	1	0	0	0	0	0	0	0	1	6669	1500	52	3		3	GPR112	23	135487899	Silent	SNP	T	TCGA-HC-A6HY-01A-11D-A31L-08		135487899	19782661	33	10079											
AFF2	2334	broad.mit.edu	37	chrX	148069054	148069054	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tacggggctatgaacactggGatatggccgacaaactgaca	13	7	12	9	2	0	2	0	2	0	0	0	4	0	3	1	4	3	1	1	4	5	3			TCGA-HC-A6HY-01A-11D-A31L-08	TCGA-HC-A6HY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87d9162b-d9e0-48d2-817d-7a3fd2ab5cfe	69ff5580-dfde-4556-8960-ff3975b593be	g.chrX:148069054G>T	ENST00000370460.2	+	20	4260	c.3781G>T	c.(3781-3783)Gat>Tat	p.D1261Y	AFF2_ENST00000286437.5_Missense_Mutation_p.D902Y|AFF2_ENST00000342251.3_Missense_Mutation_p.D1228Y|AFF2_ENST00000370457.5_Missense_Mutation_p.D1226Y	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1261					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TGAACACTGGGATATGGCCGA	0.478													46	23					1.19451e-25	1.28882e-25	1	1	0	T	148069054	G	T	148069054	3	4	214	1	0	0	0	0	1	0	0	0	356	1174	41	4	3914	4	AFF2	23	148069054	Missense_Mutation	SNP	G	TCGA-HC-A6HY-01A-11D-A31L-08	12581155	148069054	7201506	34	10080											
SPTA1	6708	broad.mit.edu	37	chr1	158639553	158639553	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taatggtcatcaccaatcaaTttggttgcagtcttgtctac	10	15	7	9	0	5	0	3	0	2	0	5	0	5	0	1	2	2	2	1	2	4	5			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr1:158639553T>C	ENST00000368148.3	-	13	1803	c.1623A>G	c.(1621-1623)aaA>aaG	p.K541K	SPTA1_ENST00000368147.3_Silent_p.K541K	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	541					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CACCAATCAATTTGGTTGCAG	0.418													103	170					0	0	1	0	0	C	158639553	T	C	158639553	2	2	215	1	0	0	0	0	0	0	0	1	15172	1490	52	3		3	SPTA1	1	158639553	Silent	SNP	T	TCGA-HI-7168-01A-11D-2114-08		158639553	90611068	1	10081											
PDIA6	10130	broad.mit.edu	37	chr2	10929048	10929048	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaggatatggggcagcacAgccacaacacagagctggtg	13	5	13	10	0	1	1	1	0	0	1	1	2	1	2	1	4	4	3	1	4	3	1			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr2:10929048A>T	ENST00000404371.2	-	11	1393	c.1056T>A	c.(1054-1056)gcT>gcA	p.A352A	PDIA6_ENST00000540494.1_Silent_p.A297A|PDIA6_ENST00000272227.3_Silent_p.A300A|PDIA6_ENST00000404824.2_Silent_p.A348A|PDIA6_ENST00000381611.4_Silent_p.A305A			Q15084	PDIA6_HUMAN	protein disulfide isomerase family A, member 6	300					cell redox homeostasis|glycerol ether metabolic process|protein folding	endoplasmic reticulum lumen|ER-Golgi intermediate compartment|melanosome|plasma membrane	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		GGGGCAGCACAGCCACAACAC	0.463													50	81					0	0	1	0	0	T	10929048	A	T	10929048	2	4	215	1	0	0	0	0	0	0	0	1	11719	175	7	5		5	PDIA6	2	10929048	Silent	SNP	A	TCGA-HI-7168-01A-11D-2114-08		10929048	232270325	2	10082											
CD207	50489	broad.mit.edu	37	chr2	71058862	71058862	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaccttgttgaatggcgtgTcatccacccaggaccagtcc	8	9	11	13	1	1	1	1	1	0	0	3	3	3	3	5	3	0	1	5	3	1	2			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr2:71058862T>C	ENST00000410009.3	-	5	851	c.806A>G	c.(805-807)gAc>gGc	p.D269G		NM_015717.3	NP_056532.3	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	269	C-type lectin.				defense response to virus	endocytic vesicle|integral to membrane	mannose binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						GAATGGCGTGTCATCCACCCA	0.572													33	30					0	0	1	0	0	C	71058862	T	C	71058862	3	2	215	1	0	0	0	0	1	0	0	0	3005	1667	58	3	188	3	CD207	2	71058862	Missense_Mutation	SNP	T	TCGA-HI-7168-01A-11D-2114-08	60129814	71058862	172140511	3	10083											
DGUOK	1716	broad.mit.edu	37	chr2	74166089	74166089	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acgaaaacttacccagaatgGcacgtagctacagaacctgt	15	7	8	11	2	0	2	0	0	0	2	0	3	0	2	2	1	5	3	2	1	7	3	rs140307681		TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr2:74166089G>T	ENST00000264093.4	+	2	280	c.195G>T	c.(193-195)tgG>tgT	p.W65C	DGUOK_ENST00000356837.6_Intron|DGUOK_ENST00000348222.1_Missense_Mutation_p.W65C|DGUOK_ENST00000462685.1_Intron	NM_080916.2	NP_550438.1	Q16854	DGUOK_HUMAN	deoxyguanosine kinase	65					guanosine metabolic process|purine base metabolic process|purine deoxyribonucleoside metabolic process|purine-containing compound salvage	mitochondrial matrix	ATP binding|deoxyguanosine kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	8						ACCCAGAATGGCACGTAGCTA	0.473													4	62					0.00024832	0.000273789	1	1	0	T	74166089	G	T	74166089	3	4	215	1	0	0	0	0	1	0	0	0	4503	1212	42	4	201	4	DGUOK	2	74166089	Missense_Mutation	SNP	G	TCGA-HI-7168-01A-11D-2114-08	3107227	74166089	169033284	4	10084											
REV1	51455	broad.mit.edu	37	chr2	100055181	100055181	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaactcagtcaattcacaCttccacattgatatgtgatg	14	12	5	10	0	3	2	3	2	0	0	4	2	4	2	1	0	1	0	1	0	3	4			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr2:100055181C>T	ENST00000258428.3	-	6	1323	c.1095G>A	c.(1093-1095)aaG>aaA	p.K365K	REV1_ENST00000465835.1_5'UTR|REV1_ENST00000393445.3_Silent_p.K365K	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	365					DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCAATTCACACTTCCACATTG	0.383								Direct reversal of damage					18	137					0	0	1	0	0	T	100055181	C	T	100055181	2	4	215	1	0	0	0	0	0	0	0	1	13291	564	20	2		2	REV1	2	100055181	Silent	SNP	C	TCGA-HI-7168-01A-11D-2114-08	25889092	100055181	143144192	5	10085											
RBM44	375316	broad.mit.edu	37	chr2	238726721	238726721	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggacctctgtttttgatGattcgataatttctgcctgt	6	18	8	9	1	2	2	0	2	2	0	3	4	2	3	3	1	1	1	3	1	1	5			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr2:238726721G>T	ENST00000316997.4	+	3	1294	c.1162G>T	c.(1162-1164)Gat>Tat	p.D388Y	RBM44_ENST00000444524.2_Intron|RBM44_ENST00000409864.1_Missense_Mutation_p.D388Y	NM_001080504.2	NP_001073973.2	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	387							nucleotide binding|RNA binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		TGTTTTTGATGATTCGATAAT	0.403													15	49					6.31663e-08	7.44151e-08	1	1	0	T	238726721	G	T	238726721	3	4	215	1	0	0	0	0	1	0	0	0	13190	1290	45	4	1168	4	RBM44	2	238726721	Missense_Mutation	SNP	G	TCGA-HI-7168-01A-11D-2114-08	138671540	238726721	4472652	6	10086											
CADPS	8618	broad.mit.edu	37	chr3	62648047	62648047	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctctcgtctgatctgggctGcttgctcatctggattgtcc	3	15	11	12	1	5	1	1	1	4	0	7	2	6	2	1	2	2	4	1	2	0	2			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr3:62648047G>T	ENST00000383710.4	-	4	1260	c.911C>A	c.(910-912)gCa>gAa	p.A304E	CADPS_ENST00000283269.9_Missense_Mutation_p.A304E|CADPS_ENST00000490353.2_Missense_Mutation_p.A304E|CADPS_ENST00000357948.3_Missense_Mutation_p.A304E	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	304					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GATCTGGGCTGCTTGCTCATC	0.473													9	58					1.12685e-05	1.29212e-05	1	1	0	T	62648047	G	T	62648047	3	4	215	1	0	0	0	0	1	0	0	0	2588	1319	46	4	3331	4	CADPS	3	62648047	Missense_Mutation	SNP	G	TCGA-HI-7168-01A-11D-2114-08		62648047	135374383	7	10087											
EPHA3	2042	broad.mit.edu	37	chr3	89457246	89457246	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctataagtcaaaacatggggCagatgaaaaaagacttcatt	18	9	8	6	0	2	3	2	1	0	2	2	3	2	3	0	2	1	1	0	2	7	4			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr3:89457246C>A	ENST00000336596.2	+	9	1952	c.1727C>A	c.(1726-1728)gCa>gAa	p.A576E	EPHA3_ENST00000494014.1_Missense_Mutation_p.A576E	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	576						extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		AAACATGGGGCAGATGAAAAA	0.353										TSP Lung(6;0.00050)			21	131					4.35082e-09	5.27e-09	1	1	0	A	89457246	C	A	89457246	3	1	215	1	0	0	0	0	1	0	0	0	5196	710	25	4	1787	4	EPHA3	3	89457246	Missense_Mutation	SNP	C	TCGA-HI-7168-01A-11D-2114-08	26809199	89457246	108565184	8	10088											
TP63	8626	broad.mit.edu	37	chr3	189349247	189349247	+	Translation_Start_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atctatatatacacaggtatAtgtgtatattttatataatt	15	19	4	3	0	1	0	0	0	1	0	1	0	1	0	0	1	1	2	0	1	11	13	rs28673064	by1000genomes	TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr3:189349247A>T	ENST00000264731.3	+	0	32				TP63_ENST00000382063.4_De_novo_Start_OutOfFrame	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63						anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		ACACAGGTATATGTGTATATT	0.368										HNSCC(45;0.13)			5	69					0	0	1	0	0	T	189349247	A	T	189349247	1	4	215	1	0	0	0	0	0	0	0	0	16453	464	16	5		5	TP63	3	189349247	Translation_Start_Site	SNP	A	TCGA-HI-7168-01A-11D-2114-08	99892001	189349247	8673183	9	10089											
CCKAR	886	broad.mit.edu	37	chr4	26491054	26491054	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accagcgtgtttcccagcacGctgagcaggaatatcaagga	12	7	11	11	2	1	1	1	1	0	0	2	3	2	3	2	2	3	4	2	2	3	2	rs143718810		TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr4:26491054G>A	ENST00000295589.3	-	2	359	c.165C>T	c.(163-165)agC>agT	p.S55S		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	55					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	TTCCCAGCACGCTGAGCAGGA	0.567													30	77					0	0	1	0	0	A	26491054	G	A	26491054	2	1	215	1	0	0	0	0	0	0	0	1	2900	1078	38	1		1	CCKAR	4	26491054	Silent	SNP	G	TCGA-HI-7168-01A-11D-2114-08		26491054	164663222	10	10090											
PRDM8	56978	broad.mit.edu	37	chr4	81123531	81123531	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctgagtcccgacggcatCgccacgggcggcggcaaagg	8	3	17	13	6	0	1	0	1	0	0	2	3	1	1	2	5	1	3	2	5	1	0			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr4:81123531C>A	ENST00000339711.4	+	10	2146	c.915C>A	c.(913-915)atC>atA	p.I305I	PRDM8_ENST00000415738.2_Silent_p.I305I|PRDM8_ENST00000504452.1_Silent_p.I305I	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN	PR domain containing 8	305	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						CCGACGGCATCGCCACGGGCG	0.746											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	12					0.004672	0.0048999	1	1	0	A	81123531	C	A	81123531	2	1	215	1	0	0	0	0	0	0	0	1	12514	874	31	4		4	PRDM8	4	81123531	Silent	SNP	C	TCGA-HI-7168-01A-11D-2114-08	54632477	81123531	110030745	11	10091											
UBE2D3	7323	broad.mit.edu	37	chr4	103720584	103720584	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatctctgtctgttttataGatccgtgcaatctctggcac	7	17	7	10	1	3	1	0	0	3	1	6	1	4	1	1	1	1	3	1	1	4	4			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr4:103720584G>T	ENST00000453744.2	-	7	891	c.378C>A	c.(376-378)atC>atA	p.I126I	UBE2D3_ENST00000338145.3_Silent_p.I126I|UBE2D3_ENST00000394804.2_Silent_p.I126I|UBE2D3_ENST00000349311.8_Silent_p.I126I|UBE2D3_ENST00000505207.1_Silent_p.I97I|UBE2D3_ENST00000507845.1_Silent_p.I97I|UBE2D3_ENST00000394803.5_Silent_p.I126I|UBE2D3_ENST00000350435.7_Silent_p.I120I|UBE2D3_ENST00000394801.4_Silent_p.I126I|UBE2D3_ENST00000502404.1_Silent_p.I97I|UBE2D3_ENST00000504211.1_Silent_p.I97I|UBE2D3_ENST00000343106.5_Silent_p.I126I|UBE2D3_ENST00000321805.7_Silent_p.I126I|UBE2D3_ENST00000357194.6_Silent_p.I128I	NM_181891.1	NP_871620.1	P61077	UB2D3_HUMAN	ubiquitin-conjugating enzyme E2D 3	126					apoptosis|BMP signaling pathway|DNA repair|negative regulation of type I interferon production|proteasomal ubiquitin-dependent protein catabolic process|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein monoubiquitination|transforming growth factor beta receptor signaling pathway	endosome membrane|plasma membrane	ATP binding|protein binding|ubiquitin-protein ligase activity			kidney(1)|lung(3)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.13e-08)		CTGTTTTATAGATCCGTGCAA	0.358													9	37					0.00621372	0.00636166	1	1	0	T	103720584	G	T	103720584	2	4	215	1	0	0	0	0	0	0	0	1	16911	932	33	4		4	UBE2D3	4	103720584	Silent	SNP	G	TCGA-HI-7168-01A-11D-2114-08	22597053	103720584	87433692	12	10092											
CENPE	1062	broad.mit.edu	37	chr4	104030222	104030222	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttccttccaagttttgacCtcattggaaagatgctgatt	9	16	7	9	0	1	3	1	2	0	1	3	4	3	4	3	1	1	2	3	1	2	6			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr4:104030222C>A	ENST00000265148.3	-	48	7838	c.7749G>T	c.(7747-7749)gaG>gaT	p.E2583D	CENPE_ENST00000380026.3_Missense_Mutation_p.E2462D	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2583	Globular autoinhibitory domain (By similarity).				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		AAGTTTTGACCTCATTGGAAA	0.353													4	65					0.014758	0.0149316	1	1	0	A	104030222	C	A	104030222	3	1	215	1	0	0	0	0	1	0	0	0	3252	680	24	4	364	4	CENPE	4	104030222	Missense_Mutation	SNP	C	TCGA-HI-7168-01A-11D-2114-08	309638	104030222	87124054	13	10093											
FLT4	2324	broad.mit.edu	37	chr5	180048621	180048621	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcacacatagtggccctcGtgctcgggcgcgacgcgggg	5	6	16	14	7	0	0	0	0	0	0	3	1	0	0	1	4	1	2	1	4	1	1			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr5:180048621G>A	ENST00000261937.6	-	13	2019	c.1941C>T	c.(1939-1941)caC>caT	p.H647H	FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Silent_p.H647H|FLT4_ENST00000502649.1_Silent_p.H647H	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	647	Ig-like C2-type 6.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	AGTGGCCCTCGTGCTCGGGCG	0.687													13	26					0	0	1	0	0	A	180048621	G	A	180048621	2	1	215	1	0	0	0	0	0	0	0	1	5977	1136	40	1		1	FLT4	5	180048621	Silent	SNP	G	TCGA-HI-7168-01A-11D-2114-08		180048621	866639	14	10094											
TNXB	7148	broad.mit.edu	37	chr6	32036414	32036414	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcatctgtcacggtcagctcCcccaggcgaggcttgatggg	6	8	14	13	2	3	1	2	1	1	0	4	2	4	1	2	4	1	3	2	4	0	1			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr6:32036414C>T	ENST00000375244.3	-	17	6174	c.5973G>A	c.(5971-5973)ggG>ggA	p.G1991G	TNXB_ENST00000375247.2_Silent_p.G1991G			P22105	TENX_HUMAN	tenascin XB	2073	Fibronectin type-III 12.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CGGTCAGCTCCCCCAGGCGAG	0.612													7	76					0	0	1	0	0	T	32036414	C	T	32036414	2	4	215	1	0	0	0	0	0	0	0	1	16406	610	22	2		2	TNXB	6	32036414	Silent	SNP	C	TCGA-HI-7168-01A-11D-2114-08		32036414	139078653	15	10095											
RUNX2	860	broad.mit.edu	37	chr6	45390466	45390466	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcagcagcagcagcagcaAcagcagcagcagcagcagga	15	0	13	13	0	0	0	0	0	0	0	0	1	0	1	0	1	12	11	0	1	1	0			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr6:45390466A>G	ENST00000371438.1	+	2	553	c.195A>G	c.(193-195)caA>caG	p.Q65Q	RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q|RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	65	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcaacagcagcagc	0.731													3	38					0	0	1	0	0	G	45390466	A	G	45390466	2	3	215	1	0	0	0	0	0	0	0	1	13800	40	2	3		3	RUNX2	6	45390466	Silent	SNP	A	TCGA-HI-7168-01A-11D-2114-08	13354052	45390466	125724601	16	10096											
MOXD1	26002	broad.mit.edu	37	chr6	132722436	132722436	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaggcgatctggctgccccGctggctccagcccagccagt	6	6	13	16	2	1	0	0	0	1	0	2	2	2	0	5	3	3	3	5	3	1	0			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr6:132722436G>A	ENST00000367963.3	-	1	248	c.130C>T	c.(130-132)Cgg>Tgg	p.R44W	MOXD1_ENST00000392401.3_Missense_Mutation_p.R44W	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	44	DOMON.				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		TGGCTGCCCCGCTGGCTCCAG	0.731													3	15					0	0	1	0	0	A	132722436	G	A	132722436	3	1	215	1	0	0	0	0	1	0	0	0	9769	1086	38	1	1759	1	MOXD1	6	132722436	Missense_Mutation	SNP	G	TCGA-HI-7168-01A-11D-2114-08	87331970	132722436	38392631	17	10097											
ARID1B	57492	broad.mit.edu	37	chr6	157150545	157150545	+	Missense_Mutation	SNP	C	C	T																															catggccggaatgcagtaccCtcagcagcaggtttgtgctg																										TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr6:157150545C>T	ENST00000346085.5	+	2	1728	c.1727C>T	c.(1726-1728)cCt>cTt	p.P576L	ARID1B_ENST00000350026.5_Missense_Mutation_p.P576L|ARID1B_ENST00000275248.4_Missense_Mutation_p.P518L|ARID1B_ENST00000367148.1_Missense_Mutation_p.P576L	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	576	Gln-rich.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		ATGCAGTACCCTCAGCAGCAG	0.542													4	45					0	0	1	0	0	T	157150545	C	T	157150545	3	4	215	1	0	0	0	0	1	0	0	0	911	681	24	2	1733	2	ARID1B	6	157150545	Missense_Mutation	SNP	C	TCGA-HI-7168-01A-11D-2114-08	24428109	157150545	13964522	18	10098	53	2									
ARID1B	57492	broad.mit.edu	37	chr6	157150550	157150550	+	Nonsense_Mutation	SNP	C	C	T																															ccggaatgcagtaccctcagCagcaggtttgtgctggtccc																										TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr6:157150550C>T	ENST00000346085.5	+	2	1733	c.1732C>T	c.(1732-1734)Cag>Tag	p.Q578*	ARID1B_ENST00000350026.5_Nonsense_Mutation_p.Q578*|ARID1B_ENST00000275248.4_Nonsense_Mutation_p.Q520*|ARID1B_ENST00000367148.1_Nonsense_Mutation_p.Q578*	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	578	Gln-rich.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GTACCCTCAGCAGCAGGTTTG	0.547													4	45					0	0	1	0	0	T	157150550	C	T	157150550	4	4	215	1	0	0	0	0	0	1	0	0	911	711	25	2	1738	2	ARID1B	6	157150550	Nonsense_Mutation	SNP	C	TCGA-HI-7168-01A-11D-2114-08	5	157150550	13964517	19	10099	53	2									
SNX13	23161	broad.mit.edu	37	chr7	17933026	17933026	+	Frame_Shift_Del	DEL	T	T	-																															taggtacttctctgagtttgTttttccaaacaggagagtaa																										TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr7:17933026delT	ENST00000409389.1	-	3	329	c.157delA	c.(157-159)cafs	p.T53fs	SNX13_ENST00000409604.1_Frame_Shift_Del_p.T53fs|SNX13_ENST00000428135.3_Frame_Shift_Del_p.T53fs			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	53					cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					TCTGAGTTTGTTTTTCCAAAC	0.338													2	4	---	---	---	---						-	17933026	T	-	17933026	7	5	215	1	0	1	0	1	0	0	0	0	14938	1725	60	0	2812	0	SNX13	7	17933026	Frame_Shift_Del	DEL	T	TCGA-HI-7168-01A-11D-2114-08		17933026	141205637	20	10100											
FAM126A	84668	broad.mit.edu	37	chr7	22985646	22985646	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgtctgtggttctttcctatActtggcttgttactacaatt	6	19	7	9	1	2	0	0	0	2	0	3	0	3	0	1	2	3	3	1	2	5	9			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr7:22985646A>G	ENST00000432176.2	-	11	1360	c.1128T>C	c.(1126-1128)agT>agC	p.S376S	FAM126A_ENST00000498833.1_5'UTR|FAM126A_ENST00000409923.1_3'UTR	NM_032581.3	NP_115970.2	Q9BYI3	HYCCI_HUMAN	family with sequence similarity 126, member A	376						cytoplasm|membrane	signal transducer activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						TCTTTCCTATACTTGGCTTGT	0.423													67	139					0	0	1	0	0	G	22985646	A	G	22985646	2	3	215	1	0	0	0	0	0	0	0	1	5460	388	14	3		3	FAM126A	7	22985646	Silent	SNP	A	TCGA-HI-7168-01A-11D-2114-08	5052620	22985646	136153017	21	10101											
GTPBP10	85865	broad.mit.edu	37	chr7	90014223	90014224	+	Frame_Shift_Ins	INS	-	-	A																															agattttctgcatttatttgINSaaaaaaacatgattccagag																										TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr7:90014223_90014224insA	ENST00000222511.6	+	10	985_986	c.919_920insA	c.(919-921)aaafs	p.K307fs	GTPBP10_ENST00000257659.8_Frame_Shift_Ins_p.K228fs	NM_033107.3	NP_149098.2	A4D1E9	GTPBA_HUMAN	GTP-binding protein 10 (putative)	307					ribosome biogenesis	chromosome|nucleolus	GTP binding|GTPase activity|magnesium ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						GCATTTATTTGAAAAAAACATG	0.327													27	80	---	---	---	---						A	90014224	-	A	90014223	7	5	215	1	0	1	1	0	0	0	0	0	6920	1291	45	0	957	0	GTPBP10	7	90014223	Frame_Shift_Ins	INS	-	TCGA-HI-7168-01A-11D-2114-08	67028577	90014223	69124440	22	10102											
DGKI	9162	broad.mit.edu	37	chr7	137294314	137294314	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttactggcttttcttttaaaGcttgttctcttcttcttccg	4	22	5	10	1	4	0	0	0	4	0	6	0	5	0	1	1	2	3	1	1	3	10			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr7:137294314G>T	ENST00000453654.1	-	9	674	c.135C>A	c.(133-135)agC>agA	p.S45R	DGKI_ENST00000446122.1_Missense_Mutation_p.S345R|DGKI_ENST00000424189.2_Missense_Mutation_p.S345R|DGKI_ENST00000288490.5_Missense_Mutation_p.S345R			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	345					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						TTCTTTTAAAGCTTGTTCTCT	0.438													8	42					2.17888e-05	2.46557e-05	1	1	0	T	137294314	G	T	137294314	3	4	215	1	0	0	0	0	1	0	0	0	4499	962	34	4	2266	4	DGKI	7	137294314	Missense_Mutation	SNP	G	TCGA-HI-7168-01A-11D-2114-08	47280091	137294314	21844349	23	10103											
GALNTL5	168391	broad.mit.edu	37	chr7	151684285	151684285	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actatcacctggaaacttttCggggaaaggttaaaataata	16	11	8	6	1	1	0	1	0	0	0	2	2	1	2	1	4	1	1	1	4	7	6			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr7:151684285C>T	ENST00000392800.2	+	5	831	c.577C>T	c.(577-579)Cgg>Tgg	p.R193W	GALNTL5_ENST00000431418.2_Missense_Mutation_p.R193W	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5	193	Catalytic subdomain A.					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		GGAAACTTTTCGGGGAAAGGT	0.378													15	49					0	0	1	0	0	T	151684285	C	T	151684285	3	4	215	1	0	0	0	0	1	0	0	0	6264	875	31	1	591	1	GALNTL5	7	151684285	Missense_Mutation	SNP	C	TCGA-HI-7168-01A-11D-2114-08	14389971	151684285	7454378	24	10104											
LINGO2	158038	broad.mit.edu	37	chr9	27949700	27949700	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgagacacattgagcacgcGtaggaagcggagcccttgga	11	6	14	10	3	0	2	0	2	0	1	0	6	0	5	1	3	3	2	1	3	2	3			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr9:27949700G>A	ENST00000379992.2	-	6	1419	c.970C>T	c.(970-972)Cgc>Tgc	p.R324C	LINGO2_ENST00000308675.3_Missense_Mutation_p.R324C	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	324						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		TTGAGCACGCGTAGGAAGCGG	0.537													30	101					0	0	1	0	0	A	27949700	G	A	27949700	3	1	215	1	0	0	0	0	1	0	0	0	8856	1145	40	1	854	1	LINGO2	9	27949700	Missense_Mutation	SNP	G	TCGA-HI-7168-01A-11D-2114-08		27949700	113263731	25	10105											
ACTL7B	10880	broad.mit.edu	37	chr9	111617151	111617151	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctcagctccctctggaagcGctcggggaagccatccagca	8	6	12	15	2	2	0	1	0	1	0	5	2	4	2	3	3	4	4	3	3	2	0			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr9:111617151G>A	ENST00000374667.3	-	1	2088	c.1060C>T	c.(1060-1062)Cgc>Tgc	p.R354C		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	354						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CTCTGGAAGCGCTCGGGGAAG	0.672													24	55					0	0	1	0	0	A	111617151	G	A	111617151	3	1	215	1	0	0	0	0	1	0	0	0	201	1087	38	1	191	1	ACTL7B	9	111617151	Missense_Mutation	SNP	G	TCGA-HI-7168-01A-11D-2114-08	83667451	111617151	29596280	26	10106											
OLFM1	10439	broad.mit.edu	37	chr9	138011425	138011425	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tggttgacttcatgaacacgGacaatttcacctcccaccgt	10	11	7	13	2	2	2	2	2	0	0	3	3	3	3	3	2	1	1	3	2	2	3			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr9:138011425G>A	ENST00000252854.4	+	6	992	c.805G>A	c.(805-807)Gac>Aac	p.D269N	OLFM1_ENST00000371796.3_Missense_Mutation_p.D260N|OLFM1_ENST00000371793.3_Missense_Mutation_p.D287N	NM_014279.4	NP_055094.1	Q99784	NOE1_HUMAN	olfactomedin 1	287	Olfactomedin-like.				nervous system development	endoplasmic reticulum lumen	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		CATGAACACGGACAATTTCAC	0.547													32	60					0	0	1	0	0	A	138011425	G	A	138011425	3	1	215	1	0	0	0	0	1	0	0	0	10900	1174	41	2	837	2	OLFM1	9	138011425	Missense_Mutation	SNP	G	TCGA-HI-7168-01A-11D-2114-08	26394274	138011425	3202006	27	10107											
FAM171A1	221061	broad.mit.edu	37	chr10	15255871	15255871	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcagtactttcctgtaaacGctgtcattgacctggtcgac	8	12	10	11	2	1	1	1	1	0	0	3	2	2	1	2	2	2	4	2	2	3	4			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr10:15255871G>A	ENST00000378116.4	-	8	1722	c.1716C>T	c.(1714-1716)agC>agT	p.S572S		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	572						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TCCTGTAAACGCTGTCATTGA	0.567													51	93					0	0	1	0	0	A	15255871	G	A	15255871	2	1	215	1	0	0	0	0	0	0	0	1	5520	1078	38	1		1	FAM171A1	10	15255871	Silent	SNP	G	TCGA-HI-7168-01A-11D-2114-08		15255871	120278876	28	10108											
ZNF33A	7581	broad.mit.edu	37	chr10	38343826	38343826	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttgggagaactttgtgtgaTagttcatccctcttgttcca	7	17	9	8	0	2	2	1	1	1	1	4	3	4	2	2	1	1	2	2	1	2	6			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr10:38343826T>C	ENST00000374618.3	+	5	952	c.774T>C	c.(772-774)gaT>gaC	p.D258D	ZNF33A_ENST00000432900.2_Silent_p.D264D|ZNF33A_ENST00000458705.2_Silent_p.D257D|ZNF33A_ENST00000307441.9_Silent_p.D257D|ZNF33A_ENST00000469037.2_Intron	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN	zinc finger protein 33A	257						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						CTTTGTGTGATAGTTCATCCC	0.388													11	64					0	0	1	0	0	C	38343826	T	C	38343826	2	2	215	1	0	0	0	0	0	0	0	1	17911	1403	49	3		3	ZNF33A	10	38343826	Silent	SNP	T	TCGA-HI-7168-01A-11D-2114-08	23087955	38343826	97190921	29	10109											
HRAS	3265	broad.mit.edu	37	chr11	533874	533874	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatggcgctgtactcctccTggccggcggtatccaggatg	5	9	14	13	3	0	0	0	0	0	0	3	1	3	1	4	5	1	4	4	5	2	2	rs121913233		TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr11:533874T>C	ENST00000417302.1	-	3	369	c.182A>G	c.(181-183)cAg>cGg	p.Q61R	HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"infrequent sarcomas, rare other types"	"rhadomyosarcoma, ganglioneuroblastoma, bladder"			Costello syndrome	HNSCC(11;0.0054)			37	91					0	0	1	0	0	C	533874	T	C	533874	3	2	215	1	0	0	0	0	1	0	0	0	7389	1580	55	3	466	3	HRAS	11	533874	Missense_Mutation	SNP	T	TCGA-HI-7168-01A-11D-2114-08		533874	134472642	30	10110											
OR5L1	219437	broad.mit.edu	37	chr11	55579666	55579666	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaaagccttctccacctgtGcttcccacctcacagctatc	9	10	4	18	0	2	0	1	0	1	0	5	0	3	0	5	0	3	2	5	0	2	3			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr11:55579666G>T	ENST00000333973.2	+	1	813	c.724G>T	c.(724-726)Gct>Tct	p.A242S		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				CTCCACCTGTGCTTCCCACCT	0.512													25	109					1.55469e-16	1.96623e-16	1	1	0	T	55579666	G	T	55579666	3	4	215	1	0	0	0	0	1	0	0	0	11217	1319	46	4	726	4	OR5L1	11	55579666	Missense_Mutation	SNP	G	TCGA-HI-7168-01A-11D-2114-08	55045792	55579666	79426850	31	10111											
ST14	6768	broad.mit.edu	37	chr11	130079559	130079559	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcttgtctccgcccagggTgattccgggggacccctgtc	3	9	15	14	2	1	1	0	1	1	0	4	2	2	2	5	4	0	1	5	4	0	2			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr11:130079559T>G	ENST00000278742.5	+	19	2827	c.2409T>G	c.(2407-2409)ggT>ggG	p.G803G		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	803	Peptidase S1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	CCGCCCAGGGTGATTCCGGGG	0.721													5	19					0	0	1	0	0	G	130079559	T	G	130079559	2	3	215	1	0	0	0	0	0	0	0	1	15267	1683	59	5		5	ST14	11	130079559	Silent	SNP	T	TCGA-HI-7168-01A-11D-2114-08	74499893	130079559	4926957	32	10112											
DPY19L2	283417	broad.mit.edu	37	chr12	64017904	64017904	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtggtgtccacatcacaCgggtggcctgaaatcaacaa	12	7	12	10	1	2	1	2	1	0	0	3	2	3	1	2	4	1	0	2	4	3	0	rs147579680		TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr12:64017904C>T	ENST00000324472.4	-	8	1052	c.869G>A	c.(868-870)cGt>cAt	p.R290H	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	290					multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		CCACATCACACGGGTGGCCTG	0.353													3	39					0	0	1	0	0	T	64017904	C	T	64017904	3	4	215	1	0	0	0	0	1	0	0	0	4767	536	19	1	1467	1	DPY19L2	12	64017904	Missense_Mutation	SNP	C	TCGA-HI-7168-01A-11D-2114-08		64017904	69833991	33	10113											
FREM2	341640	broad.mit.edu	37	chr13	39433450	39433450	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaccccaaatattcagactaCgataaaacaggctctatctg	16	9	5	11	1	3	1	1	0	2	1	3	2	3	1	2	1	3	1	2	1	7	5			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr13:39433450C>T	ENST00000280481.7	+	14	7458	c.7242C>T	c.(7240-7242)taC>taT	p.Y2414Y		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2414					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ATTCAGACTACGATAAAACAG	0.498													17	105					0	0	1	0	0	T	39433450	C	T	39433450	2	4	215	1	0	0	0	0	0	0	0	1	6080	547	19	1		1	FREM2	13	39433450	Silent	SNP	C	TCGA-HI-7168-01A-11D-2114-08		39433450	75736428	34	10114											
NALCN	259232	broad.mit.edu	37	chr13	102029302	102029302	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aattctggtccttggcagttCaaatcggaaataaatccgga	13	11	9	8	2	2	0	1	0	1	0	5	2	4	2	2	4	0	2	2	4	5	4			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr13:102029302C>G	ENST00000251127.6	-	5	562	c.481G>C	c.(481-483)Gaa>Caa	p.E161Q	NALCN_ENST00000376196.3_Missense_Mutation_p.E161Q|NALCN_ENST00000376200.5_Missense_Mutation_p.E161Q|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	161						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTTGGCAGTTCAAATCGGAAA	0.373													11	60					0	0	1	0	0	G	102029302	C	G	102029302	3	3	215	1	0	0	0	0	1	0	0	0	10196	835	29	4	4895	4	NALCN	13	102029302	Missense_Mutation	SNP	C	TCGA-HI-7168-01A-11D-2114-08	62595852	102029302	13140576	35	10115											
SNW1	22938	broad.mit.edu	37	chr14	78205374	78205374	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgcattcataacctcctttgGaaccaggtcagtgtatttgc	9	14	8	10	0	2	0	2	0	0	0	3	1	3	1	3	2	4	2	3	2	3	5			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr14:78205374G>A	ENST00000261531.7	-	4	423	c.361C>T	c.(361-363)Cca>Tca	p.P121S	SNW1_ENST00000554775.1_Intron|SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000555761.1_Missense_Mutation_p.P121S	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	121					negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		ACCTCCTTTGGAACCAGGTCA	0.383													30	346					0	0	1	0	0	A	78205374	G	A	78205374	3	1	215	1	0	0	0	0	1	0	0	0	14933	1174	41	2	1293	2	SNW1	14	78205374	Missense_Mutation	SNP	G	TCGA-HI-7168-01A-11D-2114-08		78205374	29144166	36	10116											
DLL4	54567	broad.mit.edu	37	chr15	41229089	41229089	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaaagtttccccacagtgAcaagagcttaggagagaagg	15	6	13	7	0	0	3	0	1	0	2	1	6	1	5	2	3	1	2	2	3	4	2			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr15:41229089A>C	ENST00000249749.5	+	9	2180	c.1904A>C	c.(1903-1905)gAc>gCc	p.D635A		NM_019074.3	NP_061947.1	Q9NR61	DLL4_HUMAN	delta-like 4 (Drosophila)	635					blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway	integral to membrane|plasma membrane	calcium ion binding|Notch binding			breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CCCCACAGTGACAAGAGCTTA	0.602													17	7					0	0	1	0	0	C	41229089	A	C	41229089	3	2	215	1	0	0	0	0	1	0	0	0	4596	275	10	5	1938	5	DLL4	15	41229089	Missense_Mutation	SNP	A	TCGA-HI-7168-01A-11D-2114-08		41229089	61302303	37	10117											
PDIA2	64714	broad.mit.edu	37	chr16	335185	335185	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacagcatgcgcctggtcacGgagttcaacagccaggtgcg	9	6	13	13	3	2	0	2	0	0	0	2	1	2	1	2	3	5	2	2	3	1	1	rs45503892	by1000genomes	TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr16:335185G>A	ENST00000219406.6	+	5	798	c.780G>A	c.(778-780)acG>acA	p.T260T	PDIA2_ENST00000462950.1_3'UTR|PDIA2_ENST00000404312.1_Silent_p.T257T	NM_006849.2	NP_006840.2	Q13087	PDIA2_HUMAN	protein disulfide isomerase family A, member 2	260					apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding			breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				GCCTGGTCACGGAGTTCAACA	0.662													3	39					0	0	1	0	0	A	335185	G	A	335185	2	1	215	1	0	0	0	0	0	0	0	1	11715	1103	39	1		1	PDIA2	16	335185	Silent	SNP	G	TCGA-HI-7168-01A-11D-2114-08		335185	90019568	38	10118											
TELO2	9894	broad.mit.edu	37	chr16	1556317	1556317	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acttcttcttccccctccttCagcgctttgacaggtgagtg	5	14	8	14	1	3	2	1	2	2	0	5	2	5	2	3	1	1	1	3	1	0	5			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr16:1556317C>T	ENST00000262319.6	+	17	2392	c.2113C>T	c.(2113-2115)Cag>Tag	p.Q705*	TELO2_ENST00000564507.1_3'UTR	NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	705						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				CCCCCTCCTTCAGCGCTTTGA	0.637													10	82					0	0	1	0	0	T	1556317	C	T	1556317	4	4	215	1	0	0	0	0	0	1	0	0	15816	827	29	2	2175	2	TELO2	16	1556317	Nonsense_Mutation	SNP	C	TCGA-HI-7168-01A-11D-2114-08	1221132	1556317	88798436	39	10119											
PAQR4	124222	broad.mit.edu	37	chr16	3019808	3019808	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgcgcagcctcttctacCtgcacaacgaactgggcaac	9	7	9	16	2	2	0	0	0	2	0	2	1	2	0	3	1	7	3	3	1	4	2			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr16:3019808C>G	ENST00000318782.8	+	1	563	c.133C>G	c.(133-135)Ctg>Gtg	p.L45V	PKMYT1_ENST00000431515.2_Intron|PKMYT1_ENST00000571102.1_Intron|PAQR4_ENST00000576565.1_Intron|PAQR4_ENST00000293978.8_Missense_Mutation_p.L45V|PAQR4_ENST00000572687.1_Missense_Mutation_p.L45V	NM_152341.3	NP_689554.2	Q8N4S7	PAQR4_HUMAN	progestin and adipoQ receptor family member IV	45						integral to membrane	receptor activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						CCTCTTCTACCTGCACAACGA	0.697													3	38					0	0	1	0	0	G	3019808	C	G	3019808	3	3	215	1	0	0	0	0	1	0	0	0	11484	680	24	4	135	4	PAQR4	16	3019808	Missense_Mutation	SNP	C	TCGA-HI-7168-01A-11D-2114-08	1463491	3019808	87334945	40	10120											
PAQR4	124222	broad.mit.edu	37	chr16	3021853	3021853	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggggcaactcccaccagatCatgcacctgctgagcgtggg	8	7	13	13	1	1	2	1	1	0	1	2	2	2	2	3	3	4	3	3	3	1	0			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr16:3021853C>T	ENST00000318782.8	+	3	1156	c.726C>T	c.(724-726)atC>atT	p.I242I	PKMYT1_ENST00000431515.2_Intron|PAQR4_ENST00000574988.1_Silent_p.I175I|PAQR4_ENST00000576565.1_Silent_p.I175I|PAQR4_ENST00000293978.8_Silent_p.I203I|PAQR4_ENST00000572687.1_Silent_p.I168I	NM_152341.3	NP_689554.2	Q8N4S7	PAQR4_HUMAN	progestin and adipoQ receptor family member IV	242						integral to membrane	receptor activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						CCCACCAGATCATGCACCTGC	0.677													7	39					0	0	1	0	0	T	3021853	C	T	3021853	2	4	215	1	0	0	0	0	0	0	0	1	11484	816	29	2		2	PAQR4	16	3021853	Silent	SNP	C	TCGA-HI-7168-01A-11D-2114-08	2045	3021853	87332900	41	10121											
COQ7	10229	broad.mit.edu	37	chr16	19089458	19089458	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggccggatgcagagtggcgaTatatttatcagaaagattat	13	11	12	5	2	1	3	1	0	0	3	1	5	1	4	1	3	1	1	1	3	5	5			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr16:19089458T>C	ENST00000321998.5	+	6	698	c.632T>C	c.(631-633)aTa>aCa	p.I211T	COQ7_ENST00000568985.1_Missense_Mutation_p.I211T|COQ7_ENST00000544894.2_Missense_Mutation_p.I173T|COQ7_ENST00000569127.1_Missense_Mutation_p.I188T	NM_016138.4	NP_057222.2	Q99807	COQ7_HUMAN	coenzyme Q7 homolog, ubiquinone (yeast)	211	2 X approximate tandem repeats.				ubiquinone biosynthetic process	mitochondrial inner membrane|nucleus	oxidoreductase activity|transition metal ion binding			breast(1)|large_intestine(1)|lung(3)|prostate(1)|skin(3)|urinary_tract(1)	10						AGAGTGGCGATATATTTATCA	0.388													8	47					0	0	1	0	0	C	19089458	T	C	19089458	3	2	215	1	0	0	0	0	1	0	0	0	3773	1406	49	3	654	3	COQ7	16	19089458	Missense_Mutation	SNP	T	TCGA-HI-7168-01A-11D-2114-08	16067605	19089458	71265295	42	10122											
USP31	57478	broad.mit.edu	37	chr16	23080883	23080883	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggctggtgacagaagatctgGatgacaaactctgacgctgg	11	8	14	8	1	2	5	0	3	2	2	2	6	2	6	0	4	1	2	0	4	2	0			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr16:23080883G>A	ENST00000219689.7	-	16	2542	c.2543C>T	c.(2542-2544)tCc>tTc	p.S848F	USP31_ENST00000567975.1_Missense_Mutation_p.S141F	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	848	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		AGAAGATCTGGATGACAAACT	0.468													9	49					0	0	1	0	0	A	23080883	G	A	23080883	3	1	215	1	0	0	0	0	1	0	0	0	17122	1174	41	2	1519	2	USP31	16	23080883	Missense_Mutation	SNP	G	TCGA-HI-7168-01A-11D-2114-08	3991425	23080883	67273870	43	10123											
SCNN1B	0	broad.mit.edu	37	chr16	23364121	23364121	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accagccctctccccatccaGgtattccaaaatcaagcatt	12	9	4	16	0	2	0	1	0	1	0	5	0	4	0	6	1	2	2	6	1	4	3			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr16:23364121G>T	ENST00000343070.2	+	3	487		c.e3-1		SCNN1B_ENST00000568085.1_Splice_Site|SCNN1B_ENST00000568923.1_Splice_Site|SCNN1B_ENST00000307331.5_Splice_Site|SCNN1B_ENST00000569789.1_Splice_Site	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit						excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	TCCCCATCCAGGTATTCCAAA	0.502													8	104					0.00621372	0.00636166	1	1	0	T	23364121	G	T	23364121	5	4	215	1	0	0	0	0	0	0	1	0	13982	1014	35	4	317	4	SCNN1B	16	23364121	Splice_Site	SNP	G	TCGA-HI-7168-01A-11D-2114-08	283238	23364121	66990632	44	10124											
ITGA2B	3674	broad.mit.edu	37	chr17	42455141	42455141	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctccttcttctgattacaGatgagtctctcaaagccctt	8	16	5	12	0	5	3	1	2	4	1	7	3	5	3	2	0	2	0	2	0	2	5			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr17:42455141G>T	ENST00000262407.5	-	21	2143	c.2112C>A	c.(2110-2112)atC>atA	p.I704I	ITGA2B_ENST00000353281.4_Silent_p.I704I	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	704					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	TCTGATTACAGATGAGTCTCT	0.478													7	52					0.00448238	0.00475907	1	1	0	T	42455141	G	T	42455141	2	4	215	1	0	0	0	0	0	0	0	1	7920	932	33	4		4	ITGA2B	17	42455141	Silent	SNP	G	TCGA-HI-7168-01A-11D-2114-08		42455141	38740069	45	10125											
MKS1	54903	broad.mit.edu	37	chr17	56291167	56291167	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgaagtcaggctttactgtGatcacaccattgctatccac	10	12	8	11	0	2	2	2	2	0	0	3	2	3	2	2	1	2	2	2	1	3	4			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr17:56291167G>C	ENST00000393119.2	-	7	782	c.708C>G	c.(706-708)atC>atG	p.I236M	MKS1_ENST00000313863.6_Missense_Mutation_p.I236M|MKS1_ENST00000337050.7_Missense_Mutation_p.I236M|MKS1_ENST00000546108.1_Missense_Mutation_p.I33M|MKS1_ENST00000537529.2_Missense_Mutation_p.I226M	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	236					cilium assembly	centrosome|cilium|microtubule basal body	protein binding			endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						GCTTTACTGTGATCACACCAT	0.478													28	37					0	0	1	0	0	C	56291167	G	C	56291167	3	2	215	1	0	0	0	0	1	0	0	0	9657	1280	45	4	1019	4	MKS1	17	56291167	Missense_Mutation	SNP	G	TCGA-HI-7168-01A-11D-2114-08	13836026	56291167	24904043	46	10126											
PRKCA	5578	broad.mit.edu	37	chr17	64683317	64683317	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttattcctgatcccaagaaTgaaagcaagcaaaaaaccaa	19	7	5	10	0	0	3	0	2	0	1	2	3	2	3	3	0	3	2	3	0	9	2			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr17:64683317T>A	ENST00000413366.3	+	6	644	c.618T>A	c.(616-618)aaT>aaA	p.N206K		NM_002737.2	NP_002728.1	P17252	KPCA_HUMAN	protein kinase C, alpha	206	C2.				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	ATCCCAAGAATGAAAGCAAGC	0.408													62	124					0	0	1	0	0	A	64683317	T	A	64683317	3	1	215	1	0	0	0	0	1	0	0	0	12559	1461	51	5	640	5	PRKCA	17	64683317	Missense_Mutation	SNP	T	TCGA-HI-7168-01A-11D-2114-08	8392150	64683317	16511893	47	10127											
ABCA5	23461	broad.mit.edu	37	chr17	67300814	67300814	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagttaaaatacttacagatGataatccataaaggaaaaaa	23	9	5	4	0	0	2	0	1	0	1	1	3	1	3	1	1	2	1	1	1	11	5			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr17:67300814G>A	ENST00000392676.3	-	7	990	c.926C>T	c.(925-927)tCa>tTa	p.S309L	ABCA5_ENST00000588877.1_Missense_Mutation_p.S309L|ABCA5_ENST00000392677.2_Missense_Mutation_p.S309L			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	309					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					ACTTACAGATGATAATCCATA	0.323													5	34					0	0	1	0	0	A	67300814	G	A	67300814	3	1	215	1	0	0	0	0	1	0	0	0	35	1294	45	2	4134	2	ABCA5	17	67300814	Missense_Mutation	SNP	G	TCGA-HI-7168-01A-11D-2114-08	2617497	67300814	13894396	48	10128			1	27		4	4	8492	G		6.628432e-07
ABCA5	23461	broad.mit.edu	37	chr17	67300891	67300891	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacaaagaagctgtcgcaatGactgccataagaagggacat	17	6	10	8	1	0	3	0	1	0	2	1	4	0	4	1	1	3	2	1	1	6	1			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr17:67300891G>C	ENST00000392676.3	-	7	913	c.849C>G	c.(847-849)gtC>gtG	p.V283V	ABCA5_ENST00000588877.1_Silent_p.V283V|ABCA5_ENST00000392677.2_Silent_p.V283V			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	283					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					CTGTCGCAATGACTGCCATAA	0.323													13	73					0	0	1	0	0	C	67300891	G	C	67300891	2	2	215	1	0	0	0	0	0	0	0	1	35	1277	45	4		4	ABCA5	17	67300891	Silent	SNP	G	TCGA-HI-7168-01A-11D-2114-08	77	67300891	13894319	49	10129			1	27		4	4	8492	G		6.628432e-07
ABCA5	23461	broad.mit.edu	37	chr17	67309242	67309242	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctcacaataccatcaggtaGatgatcagtagacactttct	13	11	7	10	0	4	3	3	1	1	2	4	3	4	3	1	1	1	3	1	1	4	4			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr17:67309242G>C	ENST00000392676.3	-	3	362	c.298C>G	c.(298-300)Cta>Gta	p.L100V	ABCA5_ENST00000588877.1_Missense_Mutation_p.L100V|ABCA5_ENST00000392677.2_Missense_Mutation_p.L100V			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	100					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					CCATCAGGTAGATGATCAGTA	0.313													8	69					0	0	1	0	0	C	67309242	G	C	67309242	3	2	215	1	0	0	0	0	1	0	0	0	35	933	33	4	4778	4	ABCA5	17	67309242	Missense_Mutation	SNP	G	TCGA-HI-7168-01A-11D-2114-08	8351	67309242	13885968	50	10130			1	27		4	4	8492	G		6.628432e-07
ABCA5	23461	broad.mit.edu	37	chr17	67309305	67309305	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtcactggagtatatccaaGaattagattagaaagagtaa	18	10	9	4	0	1	4	1	0	0	4	2	5	2	5	1	1	0	2	1	1	8	5			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr17:67309305G>C	ENST00000392676.3	-	3	299	c.235C>G	c.(235-237)Ctt>Gtt	p.L79V	ABCA5_ENST00000588877.1_Missense_Mutation_p.L79V|ABCA5_ENST00000392677.2_Missense_Mutation_p.L79V			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	79					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					GTATATCCAAGAATTAGATTA	0.318													7	66					0	0	1	0	0	C	67309305	G	C	67309305	3	2	215	1	0	0	0	0	1	0	0	0	35	942	33	4	4841	4	ABCA5	17	67309305	Missense_Mutation	SNP	G	TCGA-HI-7168-01A-11D-2114-08	63	67309305	13885905	51	10131			1	27		4	4	8492	G		6.628432e-07
RAB37	326624	broad.mit.edu	37	chr17	72741156	72741156	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcccgggcaggagtacggtGttcccttcctggagaccagc	6	8	13	14	2	0	1	0	0	0	1	3	3	3	2	4	4	2	3	4	4	1	3			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr17:72741156G>A	ENST00000340415.3	+	8	1487	c.478G>A	c.(478-480)Gtt>Att	p.V160I	RAB37_ENST00000392610.1_Missense_Mutation_p.V167I|RAB37_ENST00000392614.4_Missense_Mutation_p.V172I|RAB37_ENST00000528438.1_Missense_Mutation_p.V140I|RAB37_ENST00000392615.5_Missense_Mutation_p.V135I|RAB37_ENST00000392612.3_Missense_Mutation_p.V130I|RAB37_ENST00000392613.5_Missense_Mutation_p.V167I|RAB37_ENST00000402449.4_Missense_Mutation_p.V160I	NM_175738.4	NP_783865.1	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family	167					protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						GGAGTACGGTGTTCCCTTCCT	0.617											OREG0024716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	65					0	0	1	0	0	A	72741156	G	A	72741156	3	1	215	1	0	0	0	0	1	0	0	0	12979	1377	48	2	832	2	RAB37	17	72741156	Missense_Mutation	SNP	G	TCGA-HI-7168-01A-11D-2114-08	5431851	72741156	8454054	52	10132											
MYOM1	8736	broad.mit.edu	37	chr18	3102500	3102500	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgctttcgacttccaatcGtggagagtcctcagtggata	8	13	10	10	2	1	1	1	0	0	1	5	4	3	2	2	2	1	1	2	2	2	4			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr18:3102500G>A	ENST00000356443.4	-	23	3880	c.3547C>T	c.(3547-3549)Cga>Tga	p.R1183*	MYOM1_ENST00000400569.3_Nonsense_Mutation_p.R1183*|MYOM1_ENST00000261606.7_Nonsense_Mutation_p.R1087*	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	1183	Ig-like C2-type 3.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						ACTTCCAATCGTGGAGAGTCC	0.433													8	116					0	0	1	0	0	A	3102500	G	A	3102500	4	1	215	1	0	0	0	0	0	1	0	0	10139	1153	40	1	1574	1	MYOM1	18	3102500	Nonsense_Mutation	SNP	G	TCGA-HI-7168-01A-11D-2114-08		3102500	74974748	53	10133											
ARHGAP28	79822	broad.mit.edu	37	chr18	6896512	6896512	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttggcagtctgacgtgccGgaaggagtcatacgggtcca	8	8	14	11	3	2	1	1	1	1	0	3	3	3	3	3	4	2	1	3	4	2	2			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr18:6896512G>T	ENST00000419673.2	+	15	1657	c.1440G>T	c.(1438-1440)ccG>ccT	p.P480P	ARHGAP28_ENST00000383472.4_Silent_p.P639P|ARHGAP28_ENST00000532996.1_Silent_p.P462P|ARHGAP28_ENST00000262227.3_Silent_p.P587P|ARHGAP28_ENST00000314319.3_Silent_p.P480P|ARHGAP28_ENST00000400091.2_Silent_p.P639P|ARHGAP28_ENST00000418986.1_Silent_p.P480P|ARHGAP28_ENST00000531294.1_Silent_p.P475P	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN	Rho GTPase activating protein 28	462					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				CTGACGTGCCGGAAGGAGTCA	0.443													4	27					0.184627	0.184627	1	1	0	T	6896512	G	T	6896512	2	4	215	1	0	0	0	0	0	0	0	1	874	1103	39	4		4	ARHGAP28	18	6896512	Silent	SNP	G	TCGA-HI-7168-01A-11D-2114-08	3794012	6896512	71180736	54	10134											
PGLYRP2	114770	broad.mit.edu	37	chr19	15586948	15586948	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatctgcagtggtgacatctGgagagccatccctgagtcct	8	11	11	11	0	2	3	0	2	2	1	4	4	4	3	3	2	2	1	3	2	1	1			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr19:15586948G>T	ENST00000292609.4	-	2	662	c.533C>A	c.(532-534)cCa>cAa	p.P178Q	PGLYRP2_ENST00000340880.4_Missense_Mutation_p.P178Q			Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	178					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						GGTGACATCTGGAGAGCCATC	0.542													7	127					0.00198382	0.0021326	1	1	0	T	15586948	G	T	15586948	3	4	215	1	0	0	0	0	1	0	0	0	11842	1348	47	4	1213	4	PGLYRP2	19	15586948	Missense_Mutation	SNP	G	TCGA-HI-7168-01A-11D-2114-08		15586948	43542035	55	10135											
KIAA1683	80726	broad.mit.edu	37	chr19	18377363	18377363	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgatcatgggccctggacaTatctggaagggggctttggg	7	10	17	7	0	2	1	1	1	1	0	2	3	2	3	1	6	0	1	1	6	2	2			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr19:18377363T>C	ENST00000392413.3	-	3	1202	c.987A>G	c.(985-987)atA>atG	p.I329M	KIAA1683_ENST00000600359.2_Missense_Mutation_p.I283M|KIAA1683_ENST00000600328.2_Missense_Mutation_p.I329M	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN	KIAA1683	329						mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GCCCTGGACATATCTGGAAGG	0.567													49	62					0	0	1	0	0	C	18377363	T	C	18377363	3	2	215	1	0	0	0	0	1	0	0	0	8293	1396	49	3	3124	3	KIAA1683	19	18377363	Missense_Mutation	SNP	T	TCGA-HI-7168-01A-11D-2114-08	2790415	18377363	40751620	56	10136											
FUT2	2524	broad.mit.edu	37	chr19	49207194	49207194	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagccagaggcagccttcctGccggagtggacagggattgc	9	6	15	11	1	0	1	0	0	0	1	1	4	1	4	4	4	4	1	4	4	1	2			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr19:49207194G>T	ENST00000425340.2	+	2	1098	c.981G>T	c.(979-981)ctG>ctT	p.L327L	FUT2_ENST00000391876.4_Silent_p.L327L	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN	fucosyltransferase 2 (secretor status included)	327					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	galactoside 2-alpha-L-fucosyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		CAGCCTTCCTGCCGGAGTGGA	0.567													18	97					1.99824e-07	2.32227e-07	1	1	0	T	49207194	G	T	49207194	2	4	215	1	0	0	0	0	0	0	0	1	6139	1306	46	4		4	FUT2	19	49207194	Silent	SNP	G	TCGA-HI-7168-01A-11D-2114-08	30829831	49207194	9921789	57	10137											
PPFIA3	8541	broad.mit.edu	37	chr19	49633700	49633700	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acagcagagctggaggaggcCctggagcggcagcgcgccga	9	2	18	12	4	0	1	0	0	0	1	0	5	0	4	2	5	4	3	2	5	0	0	rs142815673	byFrequency	TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr19:49633700C>T	ENST00000334186.4	+	7	1072	c.723C>T	c.(721-723)gcC>gcT	p.A241A	PPFIA3_ENST00000602351.1_Silent_p.A241A	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	241						cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		TGGAGGAGGCCCTGGAGCGGC	0.687													4	11					0	0	1	0	0	T	49633700	C	T	49633700	2	4	215	1	0	0	0	0	0	0	0	1	12356	610	22	2		2	PPFIA3	19	49633700	Silent	SNP	C	TCGA-HI-7168-01A-11D-2114-08	426506	49633700	9495283	58	10138											
TRMT6	51605	broad.mit.edu	37	chr20	5931051	5931051	+	Translation_Start_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctcccctgagccctccaTgacgctcagccggtcgccgt	4	8	10	19	4	1	2	1	2	0	0	4	2	3	2	6	1	3	2	6	1	0	0			TCGA-HI-7168-01A-11D-2114-08	TCGA-HI-7168-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a1706aa-9a73-4b24-b51d-56d3764ea665	0c6efb93-b45f-4607-a8cf-c8b24859ad5d	g.chr20:5931051T>A	ENST00000203001.2	-	1	131	c.1A>T	c.(1-3)Atg>Ttg	p.M1L	TRMT6_ENST00000453074.2_5'UTR|TRMT6_ENST00000473131.1_5'UTR	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6 homolog (S. cerevisiae)	1					regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						GAGCCCTCCATGACGCTCAGC	0.677													8	33					0	0	1	0	0	A	5931051	T	A	5931051	1	1	215	1	0	0	0	0	0	0	0	0	16629	1464	51	5		5	TRMT6	20	5931051	Translation_Start_Site	SNP	T	TCGA-HI-7168-01A-11D-2114-08		5931051	57094469	59	10139											
H6PD	9563	broad.mit.edu	37	chr1	9323958	9323958	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcccatatcttccatggccGgaagaatttcttcatcacca	11	12	5	13	1	4	1	2	0	2	1	6	2	6	2	4	2	0	0	4	2	3	4	rs113495544	byFrequency	TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr1:9323958G>A	ENST00000377403.2	+	5	1708	c.1406G>A	c.(1405-1407)cGg>cAg	p.R469Q	H6PD_ENST00000602477.1_Missense_Mutation_p.R480Q	NM_004285.3	NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	469	Glucose 1-dehydrogenase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	TTCCATGGCCGGAAGAATTTC	0.597													4	123					0	0	1	0	0	A	9323958	G	A	9323958	3	1	216	1	0	0	0	0	1	0	0	0	6977	1116	39	1	1420	1	H6PD	1	9323958	Missense_Mutation	SNP	G	TCGA-HI-7169-01A-11D-2114-08		9323958	239926663	1	10140											
ZNF644	84146	broad.mit.edu	37	chr1	91406039	91406040	+	Frame_Shift_Ins	INS	-	-	T																															tacatccatttttcgctttcINStttttttttctagacctatt																										TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr1:91406039_91406040insT	ENST00000370440.1	-	3	1088_1089	c.871_872insA	c.(871-873)aaafs	p.K291fs	ZNF644_ENST00000337393.5_Frame_Shift_Ins_p.K291fs|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000361321.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	291					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TTTTCGCTTTCTTTTTTTTTCT	0.337													7	54	---	---	---	---						T	91406040	-	T	91406039	7	5	216	1	0	1	1	0	0	0	0	0	18117	913	32	0	3127	0	ZNF644	1	91406039	Frame_Shift_Ins	INS	-	TCGA-HI-7169-01A-11D-2114-08	82082081	91406039	157844582	2	10141											
RBM15	64783	broad.mit.edu	37	chr1	110882266	110882266	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttagggggctctggtggcaGcaatgggagcagcagcggaa	9	6	19	7	1	1	0	0	0	1	0	1	2	1	2	0	6	4	6	0	6	3	1			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr1:110882266G>A	ENST00000369784.3	+	1	1139	c.239G>A	c.(238-240)aGc>aAc	p.S80N	RBM15_ENST00000487146.2_Missense_Mutation_p.S80N|RBM15_ENST00000602849.1_Missense_Mutation_p.S80N	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	80	Gly/Ser-rich.				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		TCTGGTGGCAGCAATGGGAGC	0.637			T	MKL1	acute megakaryocytic leukemia						OREG0013656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	54					0	0	1	0	0	A	110882266	G	A	110882266	3	1	216	1	0	0	0	0	1	0	0	0	13168	971	34	2	241	2	RBM15	1	110882266	Missense_Mutation	SNP	G	TCGA-HI-7169-01A-11D-2114-08	19476227	110882266	138368355	3	10142											
SMG7	9887	broad.mit.edu	37	chr1	183515266	183515267	+	Frame_Shift_Ins	INS	-	-	A																															aatgcagcagcagcctctagINSaaaaaaaaatgaagcctttt																										TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr1:183515266_183515267insA	ENST00000367537.3	+	18	2680_2681	c.2485_2486insA	c.(2485-2487)aaafs	p.K829fs	SMG7_ENST00000347615.2_Frame_Shift_Ins_p.K846fs|SMG7_ENST00000515829.2_Frame_Shift_Ins_p.K800fs|SMG7_ENST00000507469.1_Frame_Shift_Ins_p.K800fs|SMG7_ENST00000508461.1_Frame_Shift_Ins_p.K804fs|SMG7_ENST00000456731.2_Frame_Shift_Ins_p.K758fs			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	846	Gln/Pro-rich.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						GCAGCCTCTAGAAAAAAAAATG	0.45													7	67	---	---	---	---						A	183515267	-	A	183515266	7	5	216	1	0	1	1	0	0	0	0	0	14852	943	33	0	2602	0	SMG7	1	183515266	Frame_Shift_Ins	INS	-	TCGA-HI-7169-01A-11D-2114-08	72633000	183515266	65735355	4	10143											
PIK3C2B	5287	broad.mit.edu	37	chr1	204409361	204409361	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcagcggaagatgaccatgCgcatgtccagcccctcctgg	9	6	12	14	2	0	2	0	1	0	1	2	3	2	3	5	2	4	2	5	2	1	0			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr1:204409361C>T	ENST00000367187.3	-	23	3894	c.3338G>A	c.(3337-3339)cGc>cAc	p.R1113H	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R1085H	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1113	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GATGACCATGCGCATGTCCAG	0.602													4	161					0	0	1	0	0	T	204409361	C	T	204409361	3	4	216	1	0	0	0	0	1	0	0	0	11958	768	27	1	1614	1	PIK3C2B	1	204409361	Missense_Mutation	SNP	C	TCGA-HI-7169-01A-11D-2114-08	20894095	204409361	44841260	5	10144											
LBR	3930	broad.mit.edu	37	chr1	225591013	225591013	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagaagagcattagtagaTgtatggaaatatacggtagg	15	9	13	4	1	0	3	0	0	0	3	0	4	0	4	1	3	2	4	1	3	8	6			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr1:225591013T>C	ENST00000338179.2	-	14	1965	c.1840A>G	c.(1840-1842)Atc>Gtc	p.I614V	LBR_ENST00000272163.4_Missense_Mutation_p.I614V	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	614					cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		CATTAGTAGATGTATGGAAAT	0.433													9	112					0	0	1	0	0	C	225591013	T	C	225591013	3	2	216	1	0	0	0	0	1	0	0	0	8691	1464	51	3	11	3	LBR	1	225591013	Missense_Mutation	SNP	T	TCGA-HI-7169-01A-11D-2114-08	21181652	225591013	23659608	6	10145											
SNX17	9784	broad.mit.edu	37	chr2	27599549	27599549	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgccagtgatgtccacggcaAtttcgccttcgagggcattg	7	11	12	11	3	0	1	0	1	0	0	3	2	1	1	3	2	1	2	3	2	1	3			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr2:27599549A>G	ENST00000233575.2	+	15	1598	c.1376A>G	c.(1375-1377)aAt>aGt	p.N459S	SNX17_ENST00000542478.1_Missense_Mutation_p.N245S|SNX17_ENST00000543024.1_Missense_Mutation_p.N245S|SNX17_ENST00000537606.1_Missense_Mutation_p.N434S	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN	sorting nexin 17	459					cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction	cytoplasmic vesicle membrane|cytosol|early endosome|Golgi apparatus	low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCCACGGCAATTTCGCCTTC	0.547													11	47					0	0	1	0	0	G	27599549	A	G	27599549	3	3	216	1	0	0	0	0	1	0	0	0	14942	101	4	3	1434	3	SNX17	2	27599549	Missense_Mutation	SNP	A	TCGA-HI-7169-01A-11D-2114-08		27599549	215599824	7	10146											
TMEM131	23505	broad.mit.edu	37	chr2	98382597	98382597	+	Frame_Shift_Del	DEL	G	G	-																															agctgccaggtttgtgaactGgaacggaatcccactccggt																										TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr2:98382597delG	ENST00000186436.5	-	35	4931	c.4703delC	c.(4702-4704)cafs	p.P1568fs		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1568						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TTTGTGAACTGGAACGGAATC	0.512													20	49	---	---	---	---						-	98382597	G	-	98382597	7	5	216	1	0	1	0	1	0	0	0	0	16104	1348	47	0	976	0	TMEM131	2	98382597	Frame_Shift_Del	DEL	G	TCGA-HI-7169-01A-11D-2114-08	70783048	98382597	144816776	8	10147											
TTN	7273	broad.mit.edu	37	chr2	179402560	179402560	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtcaggaagaggccttccaAcaatctggcatgagagttga	12	9	12	8	0	2	3	1	2	1	2	3	5	3	4	2	3	1	2	2	3	3	2			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr2:179402560A>G	ENST00000589042.1	-	355	99598	c.99374T>C	c.(99373-99375)gTt>gCt	p.V33125A	TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V24252A|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V24185A|TTN_ENST00000591111.1_Missense_Mutation_p.V31484A|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V24060A|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V30557A|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31484							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGCCTTCCAACAATCTGGCA	0.433													7	24					0	0	1	0	0	G	179402560	A	G	179402560	3	3	216	1	0	0	0	0	1	0	0	0	16797	43	2	3	8637	3	TTN	2	179402560	Missense_Mutation	SNP	A	TCGA-HI-7169-01A-11D-2114-08	81019963	179402560	63796813	9	10148											
FN1	2335	broad.mit.edu	37	chr2	216259362	216259362	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcaaaagtgcaggagctctGatcagcatggaccacttctt	12	10	9	10	0	4	1	2	1	2	0	4	3	4	3	1	2	3	3	1	2	2	2			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr2:216259362G>A	ENST00000354785.4	-	24	4054	c.3685C>T	c.(3685-3687)Cag>Tag	p.Q1229*	FN1_ENST00000421182.1_Nonsense_Mutation_p.Q1229*|FN1_ENST00000446046.1_Nonsense_Mutation_p.Q1229*|FN1_ENST00000357867.4_Nonsense_Mutation_p.Q1229*|FN1_ENST00000357009.2_Nonsense_Mutation_p.Q1229*|FN1_ENST00000356005.4_Nonsense_Mutation_p.Q1229*|FN1_ENST00000345488.5_Nonsense_Mutation_p.Q1229*|FN1_ENST00000336916.4_Nonsense_Mutation_p.Q1229*|FN1_ENST00000443816.1_Nonsense_Mutation_p.Q1229*|FN1_ENST00000432072.2_Nonsense_Mutation_p.Q1229*|FN1_ENST00000346544.3_Nonsense_Mutation_p.Q1229*|FN1_ENST00000323926.6_Nonsense_Mutation_p.Q1229*|FN1_ENST00000359671.1_Nonsense_Mutation_p.Q1229*			P02751	FINC_HUMAN	fibronectin 1	1229	Fibronectin type-III 7.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAGGAGCTCTGATCAGCATGG	0.453													6	144					0	0	1	0	0	A	216259362	G	A	216259362	4	1	216	1	0	0	0	0	0	1	0	0	5995	1299	45	2	3840	2	FN1	2	216259362	Nonsense_Mutation	SNP	G	TCGA-HI-7169-01A-11D-2114-08	36856802	216259362	26940011	10	10149											
TNP1	7141	broad.mit.edu	37	chr2	217724626	217724626	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccctcactcaccgtcatcGccccgtttcctacttttcag	6	13	4	18	3	4	0	4	0	0	0	7	0	6	0	5	0	1	1	5	0	1	4			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr2:217724626G>A	ENST00000236979.2	-	1	161	c.132C>T	c.(130-132)ggC>ggT	p.G44G	AC007563.5_ENST00000447289.1_RNA	NM_003284.3	NP_003275.1	P09430	STP1_HUMAN	transition protein 1 (during histone to protamine replacement)	44					chromatin silencing|fertilization, exchange of chromosomal proteins|multicellular organismal development|nucleosome disassembly|single strand break repair|sperm motility|spermatid nucleus elongation	nucleosome	DNA binding			large_intestine(1)|lung(1)|stomach(1)	3		Renal(207;0.0822)		Epithelial(149;8.97e-07)|all cancers(144;2.46e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CACCGTCATCGCCCCGTTTCC	0.547													8	155					0	0	1	0	0	A	217724626	G	A	217724626	2	1	216	1	0	0	0	0	0	0	0	1	16393	1074	38	1		1	TNP1	2	217724626	Silent	SNP	G	TCGA-HI-7169-01A-11D-2114-08	1465264	217724626	25474747	11	10150											
EPHA4	2043	broad.mit.edu	37	chr2	222301119	222301119	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atgtcaccgatctttcttacCctggtggtgtaagctgcttc	6	15	9	11	1	3	0	1	0	2	0	4	1	3	0	2	2	3	3	2	2	2	4			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr2:222301119C>T	ENST00000281821.2	-	13	2387	c.2346_splice	c.e13+1	p.R782_splice	EPHA4_ENST00000392071.4_Splice_Site_p.R731_splice|EPHA4_ENST00000409938.1_Splice_Site_p.R782_splice|EPHA4_ENST00000409854.1_Splice_Site_p.R782_splice	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	782	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TCTTTCTTACCCTGGTGGTGT	0.448													3	46					0	0	1	0	0	T	222301119	C	T	222301119	5	4	216	1	0	0	0	0	0	0	1	0	5197	637	22	2	634	2	EPHA4	2	222301119	Splice_Site	SNP	C	TCGA-HI-7169-01A-11D-2114-08	4576493	222301119	20898254	12	10151											
ANO7	50636	broad.mit.edu	37	chr2	242142854	242142854	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caagtggaacaagtaccagcCcctggaccacgtgcgcaggt	11	5	12	13	2	0	0	0	0	0	0	0	2	0	2	4	3	4	2	4	3	4	1			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr2:242142854C>T	ENST00000274979.8	+	9	1095	c.992C>T	c.(991-993)cCc>cTc	p.P331L	ANO7_ENST00000402430.3_Missense_Mutation_p.P330L	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	331						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						AAGTACCAGCCCCTGGACCAC	0.687													6	10					0	0	1	0	0	T	242142854	C	T	242142854	3	4	216	1	0	0	0	0	1	0	0	0	696	623	22	2	1098	2	ANO7	2	242142854	Missense_Mutation	SNP	C	TCGA-HI-7169-01A-11D-2114-08	19841735	242142854	1056519	13	10152											
NKIRAS1	28512	broad.mit.edu	37	chr3	23934708	23934708	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcaatcagagttttccgatCtgtaacagtcacctcccaca	11	12	5	13	1	4	1	3	0	1	1	6	2	6	1	3	0	1	2	3	0	2	4			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr3:23934708C>T	ENST00000443659.2	-	4	1234	c.457G>A	c.(457-459)Gat>Aat	p.D153N	NKIRAS1_ENST00000437230.1_Missense_Mutation_p.D153N|NKIRAS1_ENST00000425478.2_Missense_Mutation_p.D153N|NKIRAS1_ENST00000415901.2_Missense_Mutation_p.D153N|NKIRAS1_ENST00000421515.2_Missense_Mutation_p.D153N|NKIRAS1_ENST00000388759.3_Missense_Mutation_p.D153N|NKIRAS1_ENST00000416026.2_Missense_Mutation_p.D153N|NKIRAS1_ENST00000412028.1_Missense_Mutation_p.D153N			Q9NYS0	KBRS1_HUMAN	NFKB inhibitor interacting Ras-like 1	153					I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	7						GTTTTCCGATCTGTAACAGTC	0.443													9	55					0	0	1	0	0	T	23934708	C	T	23934708	3	4	216	1	0	0	0	0	1	0	0	0	10491	913	32	2	125	2	NKIRAS1	3	23934708	Missense_Mutation	SNP	C	TCGA-HI-7169-01A-11D-2114-08		23934708	174087722	14	10153											
EPHA6	285220	broad.mit.edu	37	chr3	97194208	97194208	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttcagcttctgacatggCagcagaacaaggacagattc	12	10	10	9	0	2	3	1	1	1	2	3	4	2	4	0	2	3	4	0	2	2	3			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr3:97194208C>G	ENST00000389672.5	+	8	1945	c.1907C>G	c.(1906-1908)gCa>gGa	p.A636G	EPHA6_ENST00000514100.1_Missense_Mutation_p.A28G|EPHA6_ENST00000502694.1_Missense_Mutation_p.A28G|EPHA6_ENST00000442602.2_Missense_Mutation_p.A2G	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	541	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TCTGACATGGCAGCAGAACAA	0.403													3	34					0	0	1	0	0	G	97194208	C	G	97194208	3	3	216	1	0	0	0	0	1	0	0	0	5199	710	25	4	2005	4	EPHA6	3	97194208	Missense_Mutation	SNP	C	TCGA-HI-7169-01A-11D-2114-08	73259500	97194208	100828222	15	10154											
ARHGAP31	57514	broad.mit.edu	37	chr3	119133914	119133914	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctagcagagggaaaggagctAgggacacacctggggcacag	13	3	16	9	0	0	1	0	0	0	1	0	4	0	4	1	5	2	3	1	5	3	2			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr3:119133914A>C	ENST00000264245.4	+	12	3670	c.3138A>C	c.(3136-3138)ctA>ctC	p.L1046L		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1046					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GAAAGGAGCTAGGGACACACC	0.592													35	112					0	0	1	0	0	C	119133914	A	C	119133914	2	2	216	1	0	0	0	0	0	0	0	1	877	407	15	5		5	ARHGAP31	3	119133914	Silent	SNP	A	TCGA-HI-7169-01A-11D-2114-08	21939706	119133914	78888516	16	10155											
PLCH1	23007	broad.mit.edu	37	chr3	155199080	155199080	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcacgactagcaatattgcGcactctgctctgacttctgg	8	11	10	12	2	3	1	0	1	3	0	3	2	3	1	0	2	3	4	0	2	3	4			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr3:155199080G>A	ENST00000460012.1	-	23	5002	c.4645C>T	c.(4645-4647)Cgc>Tgc	p.R1549C	PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000414191.1_Missense_Mutation_p.R1549C|PLCH1_ENST00000340059.7_Missense_Mutation_p.R1587C|PLCH1_ENST00000334686.6_Missense_Mutation_p.R1549C			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1587					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GCAATATTGCGCACTCTGCTC	0.512													9	123					0	0	1	0	0	A	155199080	G	A	155199080	3	1	216	1	0	0	0	0	1	0	0	0	12085	1087	38	1	326	1	PLCH1	3	155199080	Missense_Mutation	SNP	G	TCGA-HI-7169-01A-11D-2114-08	36065166	155199080	42823350	17	10156											
ATP13A5	344905	broad.mit.edu	37	chr3	193082053	193082053	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttccgtacattgtggtccCggtaaccaaacacctcctgg	8	11	8	14	2	0	0	0	0	0	0	3	0	3	0	5	3	3	2	5	3	3	4	rs78621247		TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr3:193082053C>T	ENST00000342358.4	-	2	197	c.80G>A	c.(79-81)cGg>cAg	p.R27Q		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	27					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.R27L(1)|p.R27Q(1)		NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		ATTGTGGTCCCGGTAACCAAA	0.443													8	181					0	0	1	0	0	T	193082053	C	T	193082053	3	4	216	1	0	0	0	0	1	0	0	0	1126	652	23	1	3690	1	ATP13A5	3	193082053	Missense_Mutation	SNP	C	TCGA-HI-7169-01A-11D-2114-08	37882973	193082053	4940377	18	10157											
ANK2	287	broad.mit.edu	37	chr4	114214649	114214649	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgggctacatctccgtggtCgacaccctgaaggttgtgac	7	10	12	12	2	1	2	0	2	1	0	3	3	1	2	2	3	1	2	2	3	2	2			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr4:114214649C>T	ENST00000357077.4	+	22	2483	c.2430C>T	c.(2428-2430)gtC>gtT	p.V810V	ANK2_ENST00000509550.1_Silent_p.V19V|ANK2_ENST00000506722.1_Silent_p.V789V|ANK2_ENST00000264366.6_Silent_p.V810V|ANK2_ENST00000394537.3_Silent_p.V810V	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	810					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCTCCGTGGTCGACACCCTGA	0.488													7	72					0	0	1	0	0	T	114214649	C	T	114214649	2	4	216	1	0	0	0	0	0	0	0	1	617	871	31	1		1	ANK2	4	114214649	Silent	SNP	C	TCGA-HI-7169-01A-11D-2114-08		114214649	76939627	19	10158											
UFSP2	55325	broad.mit.edu	37	chr4	186329110	186329110	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacaaacaggatttttgaCgttataccgatcaattggtt	12	14	8	7	2	1	2	1	2	0	0	1	4	1	3	1	2	2	2	1	2	4	6			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr4:186329110C>T	ENST00000264689.6	-	9	1217	c.1101G>A	c.(1099-1101)acG>acA	p.T367T		NM_018359.3	NP_060829.2	Q9NUQ7	UFSP2_HUMAN	UFM1-specific peptidase 2	367						endoplasmic reticulum|nucleus	small conjugating protein-specific protease activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)		GGATTTTTGACGTTATACCGA	0.373													3	55					0	0	1	0	0	T	186329110	C	T	186329110	2	4	216	1	0	0	0	0	0	0	0	1	16998	523	19	1		1	UFSP2	4	186329110	Silent	SNP	C	TCGA-HI-7169-01A-11D-2114-08	72114461	186329110	4825166	20	10159											
RICTOR	253260	broad.mit.edu	37	chr5	38945049	38945049	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcttttggtgctgctagcTgagccttcttgagacacccc	5	13	11	12	0	1	2	0	2	1	1	1	3	1	2	3	1	5	4	3	1	1	5			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr5:38945049T>G	ENST00000357387.3	-	35	4785	c.4755A>C	c.(4753-4755)tcA>tcC	p.S1585S	RICTOR_ENST00000296782.5_Silent_p.S1609S	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	1585					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TGCTGCTAGCTGAGCCTTCTT	0.408													39	140					0	0	1	0	0	G	38945049	T	G	38945049	2	3	216	1	0	0	0	0	0	0	0	1	13408	1567	55	5		5	RICTOR	5	38945049	Silent	SNP	T	TCGA-HI-7169-01A-11D-2114-08		38945049	141970211	21	10160											
TAF9	6880	broad.mit.edu	37	chr5	68660800	68660800	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatagtcatcatcatcatcAtcgtcatcatcatcatcttc	11	15	2	13	1	11	0	10	0	1	0	13	0	11	0	0	0	0	0	0	0	1	2			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr5:68660800A>G	ENST00000328663.4	-	3	1231	c.765T>C	c.(763-765)gaT>gaC	p.D255D	TAF9_ENST00000502819.1_Intron|TAF9_ENST00000380818.3_Intron|TAF9_ENST00000512561.1_Intron|TAF9_ENST00000380822.4_Intron|TAF9_ENST00000217893.5_Silent_p.D255D|TAF9_ENST00000506736.1_Silent_p.D255D	NM_001015892.1	NP_001015892.1	Q9Y3D8	KAD6_HUMAN	TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa	59						Cajal body	adenylate kinase activity|ATP binding|protein binding	p.D255D(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		catcatcatcatcgtcatcat	0.318													3	57					0	0	1	0	0	G	68660800	A	G	68660800	2	3	216	1	0	0	0	0	0	0	0	1	15592	214	8	3		3	TAF9	5	68660800	Silent	SNP	A	TCGA-HI-7169-01A-11D-2114-08	29715751	68660800	112254460	22	10161											
DMXL1	1657	broad.mit.edu	37	chr5	118533574	118533574	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aattatatcgcaagtcatacCgccgaagagagtttgtctgc	12	11	9	9	3	2	1	1	0	1	1	3	3	2	1	2	0	2	2	2	0	6	4			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr5:118533574C>A	ENST00000311085.8	+	32	7748	c.7668C>A	c.(7666-7668)acC>acA	p.T2556T	DMXL1_ENST00000539542.1_Silent_p.T2556T	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2556										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CAAGTCATACCGCCGAAGAGA	0.433													3	140					1	1	1	1	0	A	118533574	C	A	118533574	2	1	216	1	0	0	0	0	0	0	0	1	4622	639	23	4		4	DMXL1	5	118533574	Silent	SNP	C	TCGA-HI-7169-01A-11D-2114-08	49872774	118533574	62381686	23	10162											
PCDHGB1	0	broad.mit.edu	37	chr5	140729950	140729950	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attccagaggagctagccaaCggctcacgggtggggaaact	11	6	14	10	2	1	1	1	0	0	1	2	3	2	3	2	5	4	2	2	5	3	2			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr5:140729950C>T	ENST00000523390.1	+	1	123	c.123C>T	c.(121-123)aaC>aaT	p.N41N	PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTAGCCAACGGCTCACGGG	0.522											OREG0016856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	20					0	0	1	0	0	T	140729950	C	T	140729950	2	4	216	1	0	0	0	0	0	0	0	1	11609	535	19	1		1	PCDHGB1	5	140729950	Silent	SNP	C	TCGA-HI-7169-01A-11D-2114-08	22196376	140729950	40185310	24	10163											
SH3TC2	79628	broad.mit.edu	37	chr5	148406691	148406691	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttatgcacatctcccacCtcctgggctctgttcaaggc	6	12	9	14	0	3	0	1	0	2	0	5	0	4	0	3	3	1	4	3	3	2	2			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr5:148406691C>A	ENST00000538184.1	-	7	2133	c.1245G>T	c.(1243-1245)gaG>gaT	p.E415D	SH3TC2_ENST00000515425.1_Missense_Mutation_p.E868D|SH3TC2_ENST00000394358.2_Missense_Mutation_p.E753D|SH3TC2_ENST00000512049.1_Missense_Mutation_p.E861D			Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	868							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCTCCCACCTCCTGGGCTC	0.572													5	184					1	1	1	1	0	A	148406691	C	A	148406691	3	1	216	1	0	0	0	0	1	0	0	0	14317	680	24	4	1290	4	SH3TC2	5	148406691	Missense_Mutation	SNP	C	TCGA-HI-7169-01A-11D-2114-08	7676741	148406691	32508569	25	10164											
RUFY1	80230	broad.mit.edu	37	chr5	179023637	179023637	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagcaggagctgggcgggaGgatcggcgccctgcagctgc	6	4	19	12	3	0	0	0	0	0	0	1	3	0	3	1	5	5	5	1	5	0	0			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr5:179023637G>A	ENST00000319449.4	+	13	1598	c.1586G>A	c.(1585-1587)aGg>aAg	p.R529K	RP11-1379J22.2_ENST00000500262.1_RNA|RUFY1_ENST00000393438.2_Missense_Mutation_p.R421K|RUFY1_ENST00000377001.2_3'UTR|RUFY1_ENST00000437570.2_Missense_Mutation_p.R421K	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	529					endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGGGCGGGAGGATCGGCGCC	0.687										HNSCC(44;0.11)			3	111					0	0	1	0	0	A	179023637	G	A	179023637	3	1	216	1	0	0	0	0	1	0	0	0	13790	1000	35	2	1636	2	RUFY1	5	179023637	Missense_Mutation	SNP	G	TCGA-HI-7169-01A-11D-2114-08	30616946	179023637	1891623	26	10165											
HIST1H3C	8352	broad.mit.edu	37	chr6	26045693	26045693	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggcggcaaagctccgcgcAagcagcttgctactaaagca	11	5	11	14	4	0	0	0	0	0	0	1	0	1	0	2	2	6	7	2	2	5	3			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr6:26045693A>C	ENST00000540144.1	+	1	55	c.55A>C	c.(55-57)Aag>Cag	p.K19Q		NM_003531.2	NP_003522.1	P68431	H31_HUMAN	histone cluster 1, H3c	19					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						AGCTCCGCGCAAGCAGCTTGC	0.577													7	60					0	0	1	0	0	C	26045693	A	C	26045693	3	2	216	1	0	0	0	0	1	0	0	0	7198	131	5	5	57	5	HIST1H3C	6	26045693	Missense_Mutation	SNP	A	TCGA-HI-7169-01A-11D-2114-08		26045693	145069374	27	10166											
POLR1C	9533	broad.mit.edu	37	chr6	43484884	43484884	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtggaggaaatgcggagcCgcgtggttctgggggagttt	6	9	20	6	4	1	0	0	0	1	0	1	4	1	4	1	7	2	2	1	7	1	2			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr6:43484884C>G	ENST00000372389.3	+	1	125	c.37C>G	c.(37-39)Cgc>Ggc	p.R13G	POLR1C_ENST00000372344.2_Missense_Mutation_p.R13G|POLR1C_ENST00000304004.3_Missense_Mutation_p.R13G	NM_203290.2	NP_976035.1	O15160	RPAC1_HUMAN	polymerase (RNA) I polypeptide C, 30kDa	13					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			AATGCGGAGCCGCGTGGTTCT	0.597													7	121					0	0	1	0	0	G	43484884	C	G	43484884	3	3	216	1	0	0	0	0	1	0	0	0	12259	652	23	4	39	4	POLR1C	6	43484884	Missense_Mutation	SNP	C	TCGA-HI-7169-01A-11D-2114-08	17439191	43484884	127630183	28	10167											
MTRF1L	54516	broad.mit.edu	37	chr6	153319711	153319711	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttcagctgagttatttcttTttgacacaaagtgatttcat	10	18	6	7	0	3	3	2	3	1	0	3	3	3	3	0	0	1	2	0	0	2	6			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr6:153319711T>G	ENST00000367233.5	-	2	312	c.313A>C	c.(313-315)Aaa>Caa	p.K105Q	MTRF1L_ENST00000367231.5_Missense_Mutation_p.K105Q|MTRF1L_ENST00000367230.1_Missense_Mutation_p.K105Q|MTRF1L_ENST00000464135.1_5'UTR	NM_019041.5	NP_061914.3	Q9UGC7	RF1ML_HUMAN	mitochondrial translational release factor 1-like	105						mitochondrion	translation release factor activity, codon specific			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	10		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.24e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0888)		GTTATTTCTTTTTGACACAAA	0.303													3	40					0	0	1	0	0	G	153319711	T	G	153319711	3	3	216	1	0	0	0	0	1	0	0	0	10008	1850	64	5	853	5	MTRF1L	6	153319711	Missense_Mutation	SNP	T	TCGA-HI-7169-01A-11D-2114-08	109834827	153319711	17795356	29	10168											
ZAN	7455	broad.mit.edu	37	chr7	100388502	100388502	+	RNA	DEL	A	A	-																															gcaacagagcaagactgtctAaaaaaaaaaaaaaaaaaaag																								rs5886138		TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr7:100388502delA	ENST00000542585.1	+	0	7502				ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			aagactgtctaaaaaaaaaaa	0.522													3	4	---	---	---	---						-	100388502	A	-	100388502	6	5	216	0	1	1	0	1	0	0	0	0	17573	377	13	0		0	ZAN	7	100388502	RNA	DEL	A	TCGA-HI-7169-01A-11D-2114-08		100388502	58750161	30	10169											
CDHR3	222256	broad.mit.edu	37	chr7	105641939	105641939	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtacacagtcctggaggaaCtgagtccaggaaccatcgtg	11	8	12	10	1	0	1	0	1	0	0	3	4	2	4	3	3	3	1	3	3	3	1			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr7:105641939C>T	ENST00000542731.1	+	7	853	c.745C>T	c.(745-747)Ctg>Ttg	p.L249L	CDHR3_ENST00000541203.1_Silent_p.N149N|CDHR3_ENST00000343407.5_5'UTR|CDHR3_ENST00000478080.1_Silent_p.L161L|CDHR3_ENST00000317716.9_Silent_p.L249L|CDHR3_ENST00000470188.1_Intron			Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	249	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						CCTGGAGGAACTGAGTCCAGG	0.517													5	97					0	0	1	0	0	T	105641939	C	T	105641939	2	4	216	1	0	0	0	0	0	0	0	1	3142	564	20	2		2	CDHR3	7	105641939	Silent	SNP	C	TCGA-HI-7169-01A-11D-2114-08	5253437	105641939	53496724	31	10170											
HNF4G	3174	broad.mit.edu	37	chr8	76463690	76463690	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggcagcaacatcccctcCattaacacactggcacaagc	13	6	7	15	0	0	0	0	0	0	0	2	1	2	0	3	2	4	3	3	2	3	1			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr8:76463690C>T	ENST00000396423.2	+	4	544	c.420C>T	c.(418-420)tcC>tcT	p.S140S	HNF4G_ENST00000354370.1_Silent_p.S103S	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	103					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			ACATCCCCTCCATTAACACAC	0.448													7	64					0	0	1	0	0	T	76463690	C	T	76463690	2	4	216	1	0	0	0	0	0	0	0	1	7295	581	21	2		2	HNF4G	8	76463690	Silent	SNP	C	TCGA-HI-7169-01A-11D-2114-08		76463690	69900332	32	10171											
OTUD6B	51633	broad.mit.edu	37	chr8	92090653	92090653	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaattgaaaacttaacaGgagccagacatatggaaagt	18	8	9	6	0	0	3	0	2	0	1	0	5	0	5	1	2	3	0	1	2	6	3			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr8:92090653G>A	ENST00000285420.4	+	4	574	c.475G>A	c.(475-477)Gga>Aga	p.G159R	OTUD6B_ENST00000404789.3_Missense_Mutation_p.G28R	NM_016023.3	NP_057107.3	Q8N6M0	OTU6B_HUMAN	OTU domain containing 6B	129	OTU.									endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11			BRCA - Breast invasive adenocarcinoma(11;0.0187)			AAACTTAACAGGAGCCAGACA	0.378													2	8					0	0	1	0	0	A	92090653	G	A	92090653	3	1	216	1	0	0	0	0	1	0	0	0	11364	1001	35	2	489	2	OTUD6B	8	92090653	Missense_Mutation	SNP	G	TCGA-HI-7169-01A-11D-2114-08	15626963	92090653	54273369	33	10172											
VPS13A	23230	broad.mit.edu	37	chr9	80022520	80022520	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaagaccccagaggatgcCagggtaaatataataaatct	16	9	8	8	0	2	2	1	0	1	2	2	3	2	3	3	2	1	1	3	2	7	5			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr9:80022520C>A	ENST00000360280.3	+	71	9731	c.9471C>A	c.(9469-9471)gcC>gcA	p.A3157A	VPS13A_ENST00000376646.3_Silent_p.A93A|VPS13A_ENST00000376636.3_Silent_p.A3118A|VPS13A_ENST00000484581.2_Silent_p.A93A	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	3157					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CAGAGGATGCCAGGGtaaata	0.318													3	31					0.014758	0.015876	1	1	0	A	80022520	C	A	80022520	2	1	216	1	0	0	0	0	0	0	0	1	17249	581	21	4		4	VPS13A	9	80022520	Silent	SNP	C	TCGA-HI-7169-01A-11D-2114-08		80022520	61190911	34	10173											
AKR1C1	1645	broad.mit.edu	37	chr10	5011016	5011016	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaattcctttttcccaggcCgtggagaagtgtaaagatgc	11	11	10	9	1	0	2	0	0	0	2	2	3	2	2	3	2	1	1	3	2	4	4			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr10:5011016C>T	ENST00000380872.4	+	5	642	c.450C>T	c.(448-450)gcC>gcT	p.A150A	AKR1C1_ENST00000434459.2_Silent_p.A150A|AKR1C1_ENST00000380859.1_Silent_p.A152A|AKR1C1_ENST00000477661.1_3'UTR	NM_001353.5	NP_001344.2			aldo-keto reductase family 1, member C1											breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(2)|ovary(3)|prostate(1)	13						TTTCCCAGGCCGTGGAGAAGT	0.463													3	73					0	0	1	0	0	T	5011016	C	T	5011016	2	4	216	1	0	0	0	0	0	0	0	1	466	639	23	1		1	AKR1C1	10	5011016	Silent	SNP	C	TCGA-HI-7169-01A-11D-2114-08		5011016	130523731	35	10174											
TSPAN15	23555	broad.mit.edu	37	chr10	71264232	71264232	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgtgtggctacaaaactatCgacaaggaggtaatgtcttt	13	12	10	6	1	1	0	0	0	1	0	2	2	1	1	0	3	2	2	0	3	6	4			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr10:71264232C>T	ENST00000373290.2	+	6	731	c.609C>T	c.(607-609)atC>atT	p.I203I	TSPAN15_ENST00000459981.1_3'UTR	NM_012339.3	NP_036471.1	O95858	TSN15_HUMAN	tetraspanin 15	203						integral to plasma membrane|membrane fraction				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	9						ACAAAACTATCGACAAGGAGG	0.423													22	91					0	0	1	0	0	T	71264232	C	T	71264232	2	4	216	1	0	0	0	0	0	0	0	1	16700	874	31	1		1	TSPAN15	10	71264232	Silent	SNP	C	TCGA-HI-7169-01A-11D-2114-08	66253216	71264232	64270515	36	10175											
OR5A2	219981	broad.mit.edu	37	chr11	59189732	59189732	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggcctttgtcctacctgtaGctgagctgatcttcacaaca	9	12	8	12	0	2	2	1	2	1	0	3	2	3	2	3	1	4	3	3	1	3	4			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr11:59189732G>T	ENST00000302040.4	-	1	717	c.695C>A	c.(694-696)gCt>gAt	p.A232D		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						CCTACCTGTAGCTGAGCTGAT	0.483													5	42					0.0215528	0.0228395	1	1	0	T	59189732	G	T	59189732	3	4	216	1	0	0	0	0	1	0	0	0	11187	971	34	4	281	4	OR5A2	11	59189732	Missense_Mutation	SNP	G	TCGA-HI-7169-01A-11D-2114-08		59189732	75816784	37	10176											
LRP5	4041	broad.mit.edu	37	chr11	68216515	68216515	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctcttcccgccccctccgTccccctgcacggactcatcc	4	9	5	23	3	2	0	1	0	1	0	7	1	6	1	7	1	1	1	7	1	0	1			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr11:68216515T>C	ENST00000294304.7	+	23	4931	c.4825T>C	c.(4825-4827)Tcc>Ccc	p.S1609P	LRP5_ENST00000529481.1_3'UTR	NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1609	Pro-rich.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCCCCCTCCGTCCCCCTGCAC	0.582													3	119					0	0	1	0	0	C	68216515	T	C	68216515	3	2	216	1	0	0	0	0	1	0	0	0	9005	1667	58	3	4915	3	LRP5	11	68216515	Missense_Mutation	SNP	T	TCGA-HI-7169-01A-11D-2114-08	9026783	68216515	66790001	38	10177											
FAT3	120114	broad.mit.edu	37	chr11	92531778	92531778	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aactgactgcagagagtcccGttgaagtcaacattgaggtg	12	9	12	8	1	1	4	1	3	0	1	2	5	2	4	1	1	3	2	1	1	3	2			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr11:92531778G>A	ENST00000298047.6	+	9	5616	c.5599G>A	c.(5599-5601)Gtt>Att	p.V1867I	FAT3_ENST00000409404.2_Missense_Mutation_p.V1867I|FAT3_ENST00000525166.1_Missense_Mutation_p.V1717I			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1867	Cadherin 16.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGAGAGTCCCGTTGAAGTCAA	0.453										TCGA Ovarian(4;0.039)			6	30					0	0	1	0	0	A	92531778	G	A	92531778	3	1	216	1	0	0	0	0	1	0	0	0	5724	1145	40	1	5633	1	FAT3	11	92531778	Missense_Mutation	SNP	G	TCGA-HI-7169-01A-11D-2114-08	24315263	92531778	42474738	39	10178											
ESAM	90952	broad.mit.edu	37	chr11	124623669	124623669	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggtgggccccatctgtcGtgggcagtcttggtgagggc	4	9	19	9	1	2	1	0	1	2	0	3	2	2	1	2	5	0	1	2	5	0	1			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr11:124623669G>A	ENST00000278927.5	-	7	1175	c.1046C>T	c.(1045-1047)aCg>aTg	p.T349M	ESAM_ENST00000442070.2_Intron	NM_138961.2	NP_620411.2	Q96AP7	ESAM_HUMAN	endothelial cell adhesion molecule	349					blood coagulation|leukocyte migration	adherens junction|integral to membrane|tight junction				endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022)		CCCATCTGTCGTGGGCAGTCT	0.667													16	74					0	0	1	0	0	A	124623669	G	A	124623669	3	1	216	1	0	0	0	0	1	0	0	0	5275	1145	40	1	130	1	ESAM	11	124623669	Missense_Mutation	SNP	G	TCGA-HI-7169-01A-11D-2114-08	32091891	124623669	10382847	40	10179											
APOBEC1	339	broad.mit.edu	37	chr12	7802204	7802204	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaggatgtgtggcggaatcGtttggtaatggcagttttga	10	13	15	3	2	0	1	0	1	0	0	1	3	0	3	0	5	0	4	0	5	3	4			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr12:7802204G>A	ENST00000229304.4	-	5	670	c.650C>T	c.(649-651)aCg>aTg	p.T217M		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	217					cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						TGGCGGAATCGTTTGGTAATG	0.398													4	89					0	0	1	0	0	A	7802204	G	A	7802204	3	1	216	1	0	0	0	0	1	0	0	0	784	1145	40	1	64	1	APOBEC1	12	7802204	Missense_Mutation	SNP	G	TCGA-HI-7169-01A-11D-2114-08		7802204	126049691	41	10180											
CDK2	1017	broad.mit.edu	37	chr12	56365358	56365358	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggccaaggcagccctggcTcaccctttcttccaggatgt	6	10	10	15	1	2	0	1	0	1	0	4	1	3	1	4	4	1	2	4	4	1	2			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr12:56365358T>C	ENST00000266970.4	+	7	1086	c.846T>C	c.(844-846)gcT>gcC	p.A282A	CDK2_ENST00000354056.4_Silent_p.A248A|CDK2_ENST00000553376.1_Silent_p.A330A|CDK2_ENST00000440311.2_Silent_p.A222A|CDK2_ENST00000556656.1_3'UTR	NM_001798.3	NP_001789.2	P24941	CDK2_HUMAN	cyclin-dependent kinase 2	282	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|blood coagulation|cell division|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA replication|G1/S transition of mitotic cell cycle|G2 phase of mitotic cell cycle|G2/M transition of mitotic cell cycle|histone phosphorylation|M/G1 transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation|Ras protein signal transduction|regulation of DNA replication|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol	ATP binding|cyclin-dependent protein kinase activity|identical protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	18			UCEC - Uterine corpus endometrioid carcinoma (6;0.123)|OV - Ovarian serous cystadenocarcinoma(18;0.235)			CAGCCCTGGCTCACCCTTTCT	0.527													38	124					0	0	1	0	0	C	56365358	T	C	56365358	2	2	216	1	0	0	0	0	0	0	0	1	3158	1538	54	3		3	CDK2	12	56365358	Silent	SNP	T	TCGA-HI-7169-01A-11D-2114-08	48563154	56365358	77486537	42	10181											
MON2	23041	broad.mit.edu	37	chr12	62902191	62902191	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcaccagttgaaaaaccAtattttcctatctgcatgcg	12	11	6	12	1	1	1	0	1	1	0	2	1	2	1	4	0	4	3	4	0	4	5			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr12:62902191A>G	ENST00000393630.3	+	8	1306	c.915A>G	c.(913-915)ccA>ccG	p.P305P	MON2_ENST00000552738.1_Silent_p.P305P|MON2_ENST00000393632.2_Silent_p.P305P|MON2_ENST00000393629.2_Silent_p.P305P|MON2_ENST00000280379.6_Silent_p.P305P|MON2_ENST00000552115.1_Silent_p.P305P|MON2_ENST00000549378.1_3'UTR|MON2_ENST00000546600.1_Silent_p.P305P	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	305					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TTGAAAAACCATATTTTCCTA	0.373													37	80					0	0	1	0	0	G	62902191	A	G	62902191	2	3	216	1	0	0	0	0	0	0	0	1	9749	204	8	3		3	MON2	12	62902191	Silent	SNP	A	TCGA-HI-7169-01A-11D-2114-08	6536833	62902191	70949704	43	10182											
PCDH9	5101	broad.mit.edu	37	chr13	67205385	67205385	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcttcagtcctcttgtcCggagaggcctggtcatagaa	7	12	11	11	1	4	2	2	0	2	2	6	3	6	2	3	3	1	1	3	3	2	3			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr13:67205385C>T	ENST00000544246.1	-	4	3988	c.3297G>A	c.(3295-3297)ccG>ccA	p.P1099P	PCDH9_ENST00000377865.2_Silent_p.P1099P|PCDH9_ENST00000328454.5_Silent_p.P1065P|PCDH9_ENST00000456367.1_Silent_p.P1065P	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	1099					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TCCTCTTGTCCGGAGAGGCCT	0.512													7	116					0	0	1	0	0	T	67205385	C	T	67205385	2	4	216	1	0	0	0	0	0	0	0	1	11565	639	23	1		1	PCDH9	13	67205385	Silent	SNP	C	TCGA-HI-7169-01A-11D-2114-08		67205385	47964493	44	10183											
ACIN1	22985	broad.mit.edu	37	chr14	23559257	23559257	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaagtcaggaggcagcaGggaagccactccctcaggat	12	5	13	11	0	2	1	2	1	0	0	3	4	3	4	2	4	2	2	2	4	2	0			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr14:23559257G>C	ENST00000262710.1	-	4	871	c.544C>G	c.(544-546)Ctg>Gtg	p.L182V	ACIN1_ENST00000457657.1_Intron|ACIN1_ENST00000605057.1_Missense_Mutation_p.L124V|ACIN1_ENST00000555053.1_Missense_Mutation_p.L182V	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	182	Glu-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GGAGGCAGCAGGGAAGCCACT	0.582													3	23					0	0	1	0	0	C	23559257	G	C	23559257	3	2	216	1	0	0	0	0	1	0	0	0	142	991	35	4	3692	4	ACIN1	14	23559257	Missense_Mutation	SNP	G	TCGA-HI-7169-01A-11D-2114-08		23559257	83790283	45	10184											
RYR3	6263	broad.mit.edu	37	chr15	34129958	34129958	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaagacttaaccagctcagAcaccttcaaagaatatgacc	17	8	5	11	0	2	4	2	1	0	3	2	4	2	4	3	0	2	1	3	0	6	4			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr15:34129958A>G	ENST00000389232.4	+	89	11847	c.11777A>G	c.(11776-11778)gAc>gGc	p.D3926G	RYR3_ENST00000415757.3_Missense_Mutation_p.D3921G	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3926	EF-hand.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ACCAGCTCAGACACCTTCAAA	0.383													3	16					0	0	1	0	0	G	34129958	A	G	34129958	3	3	216	1	0	0	0	0	1	0	0	0	13822	275	10	3	12131	3	RYR3	15	34129958	Missense_Mutation	SNP	A	TCGA-HI-7169-01A-11D-2114-08		34129958	68401434	46	10185											
CYP1A2	1544	broad.mit.edu	37	chr15	75044488	75044488	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgattggcagggagcggCggccccggctctctgacaga	6	7	16	12	3	1	3	0	2	1	1	2	4	1	4	2	5	1	2	2	5	0	1	rs147333000	byFrequency	TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr15:75044488C>T	ENST00000343932.4	+	5	1129	c.1066C>T	c.(1066-1068)Cgg>Tgg	p.R356W		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	356					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	CAGGGAGCGGCGGCCCCGGCT	0.592													26	89					0	0	1	0	0	T	75044488	C	T	75044488	3	4	216	1	0	0	0	0	1	0	0	0	4173	759	27	1	1080	1	CYP1A2	15	75044488	Missense_Mutation	SNP	C	TCGA-HI-7169-01A-11D-2114-08	40914530	75044488	27486904	47	10186											
SLCO3A1	28232	broad.mit.edu	37	chr15	92671666	92671666	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attccttcactccagtgtgtGgggcagatggcatcacctac	8	11	10	12	0	2	1	2	0	0	1	4	1	4	1	3	3	1	2	3	3	1	3			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr15:92671666G>A	ENST00000318445.6	+	7	1673	c.1459G>A	c.(1459-1461)Ggg>Agg	p.G487R	SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Missense_Mutation_p.G487R	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	487	Kazal-like.				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			TCCAGTGTGTGGGGCAGATGG	0.562													3	150					0	0	1	0	0	A	92671666	G	A	92671666	3	1	216	1	0	0	0	0	1	0	0	0	14783	1348	47	2	1485	2	SLCO3A1	15	92671666	Missense_Mutation	SNP	G	TCGA-HI-7169-01A-11D-2114-08	17627178	92671666	9859726	48	10187											
ADAMTS17	170691	broad.mit.edu	37	chr15	100533254	100533254	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccagcaggctgctctcaccGtagaccagtccccagttttc	7	9	9	16	1	1	1	1	0	1	1	4	1	2	1	5	1	2	5	5	1	1	3	rs142633005		TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr15:100533254G>A	ENST00000268070.4	-	20	3053	c.2949_splice	c.e20+1	p.T983_splice		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	983	TSP type-1 5.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		TGCTCTCACCGTAGACCAGTC	0.617													3	57					0	0	1	0	0	A	100533254	G	A	100533254	5	1	216	1	0	0	0	0	0	0	1	0	261	1159	40	1	351	1	ADAMTS17	15	100533254	Splice_Site	SNP	G	TCGA-HI-7169-01A-11D-2114-08	7861588	100533254	1998138	49	10188											
FUK	197258	broad.mit.edu	37	chr16	70506485	70506485	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcaacgtgccctggagtgaAttcttcaagaggacaggtgt	10	10	12	9	1	3	2	2	1	1	1	3	4	3	4	1	3	2	0	1	3	3	2			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr16:70506485A>G	ENST00000288078.6	+	14	1615	c.1383A>G	c.(1381-1383)gaA>gaG	p.E461E	FUK_ENST00000378912.2_Silent_p.E493E|FUK_ENST00000571514.1_5'UTR	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	461						cytoplasm	ATP binding|fucokinase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				CCTGGAGTGAATTCTTCAAGA	0.607													9	38					0	0	1	0	0	G	70506485	A	G	70506485	2	3	216	1	0	0	0	0	0	0	0	1	6131	98	4	3		3	FUK	16	70506485	Silent	SNP	A	TCGA-HI-7169-01A-11D-2114-08		70506485	19848268	50	10189											
RNMTL1	55178	broad.mit.edu	37	chr17	695199	695199	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctgatccccgttgtgcctGgtgtggacagcctcaactcg	5	11	12	13	2	1	1	1	1	0	0	3	2	2	2	4	2	4	2	4	2	1	1			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr17:695199G>A	ENST00000304478.4	+	4	1259	c.1153G>A	c.(1153-1155)Ggt>Agt	p.G385S		NM_018146.2	NP_060616.1	Q9HC36	RMTL1_HUMAN	RNA methyltransferase like 1	385					RNA processing		protein binding|RNA binding|RNA methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0219)		CGTTGTGCCTGGTGTGGACAG	0.637													3	54					0	0	1	0	0	A	695199	G	A	695199	3	1	216	1	0	0	0	0	1	0	0	0	13559	1348	47	2	1167	2	RNMTL1	17	695199	Missense_Mutation	SNP	G	TCGA-HI-7169-01A-11D-2114-08		695199	80500011	51	10190											
TNFRSF13B	23495	broad.mit.edu	37	chr17	16842993	16842993	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccagcacaagtggggtcgggGgtcccaggcgtgactgcgct	6	6	17	12	3	0	1	0	1	0	0	2	1	1	1	2	5	2	2	2	5	1	0			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr17:16842993G>A	ENST00000437538.2	-	4	620	c.612C>T	c.(610-612)acC>acT	p.T204T	TNFRSF13B_ENST00000579315.1_Intron|TNFRSF13B_ENST00000583789.1_Silent_p.T204T|TNFRSF13B_ENST00000261652.2_Silent_p.T250T			O14836	TR13B_HUMAN	tumor necrosis factor receptor superfamily, member 13B	250					cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						TGGGGTCGGGGGTCCCAGGCG	0.657									IgA Deficiency, Selective				3	38					0	0	1	0	0	A	16842993	G	A	16842993	2	1	216	1	0	0	0	0	0	0	0	1	16347	1219	43	2		2	TNFRSF13B	17	16842993	Silent	SNP	G	TCGA-HI-7169-01A-11D-2114-08	16147794	16842993	64352217	52	10191											
RDM1	201299	broad.mit.edu	37	chr17	34247216	34247216	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaaaccgtgtagttcttctTcgcatctgacacctacgatg	9	14	7	11	3	3	1	0	1	3	0	4	2	3	1	2	0	2	3	2	0	4	6			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr17:34247216T>C	ENST00000394529.3	-	5	1145	c.659A>G	c.(658-660)gAa>gGa	p.E220G	RDM1_ENST00000425909.3_Intron|RDM1_ENST00000419453.2_Missense_Mutation_p.E187G|RDM1_ENST00000591402.1_Intron|RDM1_ENST00000431884.2_Missense_Mutation_p.E210G|RDM1_ENST00000293273.6_Missense_Mutation_p.E243G	NM_001163130.1	NP_001156602.1	Q8NG50	RDM1_HUMAN	RAD52 motif 1	243					DNA recombination|DNA repair	Cajal body|cytoplasm|nucleolus|PML body	DNA binding|nucleotide binding|RNA binding			breast(1)|kidney(3)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)	9		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TAGTTCTTCTTCGCATCTGAC	0.373								Other identified genes with known or suspected DNA repair function					7	89					0	0	1	0	0	C	34247216	T	C	34247216	3	2	216	1	0	0	0	0	1	0	0	0	13249	1783	62	3	134	3	RDM1	17	34247216	Missense_Mutation	SNP	T	TCGA-HI-7169-01A-11D-2114-08	17404223	34247216	46947994	53	10192											
GPR108	56927	broad.mit.edu	37	chr19	6731108	6731108	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgaagaaggccagggtggaGccctccaccaagagctgggg	11	3	16	11	1	0	2	0	0	0	2	1	4	1	3	4	5	2	1	4	5	3	0			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr19:6731108G>A	ENST00000264080.7	-	17	1475	c.1449C>T	c.(1447-1449)ggC>ggT	p.G483G	GPR108_ENST00000598626.1_Intron|GPR108_ENST00000430424.4_Silent_p.G241G	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	483						integral to membrane				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						CCAGGGTGGAGCCCTCCACCA	0.692													3	45					0	0	1	0	0	A	6731108	G	A	6731108	2	1	216	1	0	0	0	0	0	0	0	1	6664	958	34	2		2	GPR108	19	6731108	Silent	SNP	G	TCGA-HI-7169-01A-11D-2114-08		6731108	52397875	54	10193											
RYR1	6261	broad.mit.edu	37	chr19	38976783	38976783	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcacgctcgcgaccccGtcgggggctccgtggagttc	4	6	16	15	6	0	0	0	0	0	0	4	2	1	1	3	4	1	5	3	4	0	1	rs147603571		TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr19:38976783G>A	ENST00000355481.4	+	34	5619	c.5488G>A	c.(5488-5490)Gtc>Atc	p.V1830I	RYR1_ENST00000359596.3_Missense_Mutation_p.V1830I|RYR1_ENST00000360985.3_Missense_Mutation_p.V1830I	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1830	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TCGCGACCCCGTCGGGGGCTC	0.667													5	190					0	0	1	0	0	A	38976783	G	A	38976783	3	1	216	1	0	0	0	0	1	0	0	0	13820	1145	40	1	5622	1	RYR1	19	38976783	Missense_Mutation	SNP	G	TCGA-HI-7169-01A-11D-2114-08	32245675	38976783	20152200	55	10194											
GLTSCR1	29998	broad.mit.edu	37	chr19	48204803	48204805	+	In_Frame_Del	DEL	TCC	TCC	-																															cctcctccctgtcctcctctTcctcctcctcctctgccgcc																										TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr19:48204803_48204805delTCC	ENST00000396720.3	+	15	4008_4010	c.3814_3816delTCC	c.(3814-3816)del	p.S1276del	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	1276	Poly-Ser.						protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		gtcctcctcttcctcctcctcct	0.719													2	4	---	---	---	---						-	48204805	TCC	-	48204803	7	5	216	1	0	1	0	1	0	0	0	0	6516	1783	62	0	3864	0	GLTSCR1	19	48204803	In_Frame_Del	DEL	TCC	TCGA-HI-7169-01A-11D-2114-08	9228020	48204803	10924180	56	10195											
ZNF880	400713	broad.mit.edu	37	chr19	52877717	52877717	+	Frame_Shift_Del	DEL	T	T	-																															ccagagtggaggccccataaTtttttttttttttaaacagg																								rs77187934		TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr19:52877717delT	ENST00000597976.1	+	3	325	c.305delT	c.(304-306)atfs	p.I102fs	ZNF880_ENST00000422689.2_Intron|ZNF880_ENST00000344085.5_Intron|ZNF880_ENST00000600321.1_Intron|ZNF880_ENST00000424032.2_Intron			Q6PDB4	ZN880_HUMAN	zinc finger protein 880	0					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						GGCCCCATAAttttttttttt	0.473													2	4	---	---	---	---						-	52877717	T	-	52877717	7	5	216	1	0	1	0	1	0	0	0	0	18240	1508	52	0		0	ZNF880	19	52877717	Frame_Shift_Del	DEL	T	TCGA-HI-7169-01A-11D-2114-08	4672914	52877717	6251266	57	10196											
PLCB4	5332	broad.mit.edu	37	chr20	9364983	9364983	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcagttcttcccataacaCttatctcactggcagacagt	11	12	5	13	0	3	1	2	0	2	1	5	1	4	1	1	1	1	2	1	1	2	4			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr20:9364983C>T	ENST00000378501.2	+	11	1004	c.989C>T	c.(988-990)aCt>aTt	p.T330I	PLCB4_ENST00000334005.3_Missense_Mutation_p.T330I|PLCB4_ENST00000278655.4_Missense_Mutation_p.T330I|PLCB4_ENST00000378473.3_Missense_Mutation_p.T330I|PLCB4_ENST00000414679.2_Missense_Mutation_p.T330I|PLCB4_ENST00000378493.1_Missense_Mutation_p.T330I|PLCB4_ENST00000492632.1_3'UTR	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	330	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TCCCATAACACTTATCTCACT	0.468													19	75					0	0	1	0	0	T	9364983	C	T	9364983	3	4	216	1	0	0	0	0	1	0	0	0	12078	565	20	2	1031	2	PLCB4	20	9364983	Missense_Mutation	SNP	C	TCGA-HI-7169-01A-11D-2114-08		9364983	53660537	58	10197											
CTNNBL1	56259	broad.mit.edu	37	chr20	36488410	36488410	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcacatctgctacatcatggCcgagatctgcaatgccaatg	11	9	9	12	1	3	1	1	0	2	1	3	2	3	1	2	1	4	3	2	1	3	1			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr20:36488410C>T	ENST00000405275.2	+	15	1664	c.1421C>T	c.(1420-1422)gCc>gTc	p.A474V	CTNNBL1_ENST00000473857.1_3'UTR|CTNNBL1_ENST00000361383.6_Missense_Mutation_p.A501V|CTNNBL1_ENST00000373473.1_Missense_Mutation_p.A314V|CTNNBL1_ENST00000373469.1_Missense_Mutation_p.A249V			Q8WYA6	CTBL1_HUMAN	catenin, beta like 1	501					apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				TACATCATGGCCGAGATCTGC	0.587													13	46					0	0	1	0	0	T	36488410	C	T	36488410	3	4	216	1	0	0	0	0	1	0	0	0	4042	739	26	2	1556	2	CTNNBL1	20	36488410	Missense_Mutation	SNP	C	TCGA-HI-7169-01A-11D-2114-08	27123427	36488410	26537110	59	10198											
CELSR1	9620	broad.mit.edu	37	chr22	46760120	46760120	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgtcagcgtcagcggcggCgggtaggtgactttattttt	5	13	14	9	5	2	1	2	1	0	0	3	1	3	1	1	4	2	1	1	4	2	5			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chr22:46760120C>T	ENST00000262738.3	-	34	8807	c.8808G>A	c.(8806-8808)ccG>ccA	p.P2936P		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2936					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TCAGCGGCGGCGGGTAGGTGA	0.657													7	91					0	0	1	0	0	T	46760120	C	T	46760120	2	4	216	1	0	0	0	0	0	0	0	1	3243	755	27	1		1	CELSR1	22	46760120	Silent	SNP	C	TCGA-HI-7169-01A-11D-2114-08		46760120	4544446	60	10199											
FAM47C	442444	broad.mit.edu	37	chrX	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctccgcccggagcctcccAatactggagtgtcccatctc	6	9	9	17	2	2	0	0	0	2	0	6	2	4	2	5	2	2	0	5	2	2	1	rs145580328	byFrequency	TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642													4	70					0	0	1	0	0	G	37028425	A	G	37028425	3	3	216	1	0	0	0	0	1	0	0	0	5607	130	5	3	1944	3	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-HI-7169-01A-11D-2114-08		37028425	118242135	61	10200											
PGAM4	441531	broad.mit.edu	37	chrX	77225016	77225016	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcgtagcgcctgcccgccGcgcttcgcctcctcgtggcc	1	9	11	20	7	1	0	0	0	1	0	5	0	2	0	6	1	2	2	6	1	1	2			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chrX:77225016G>A	ENST00000458128.1	-	1	119	c.120C>T	c.(118-120)cgC>cgT	p.R40R	ATP7A_ENST00000343533.5_Intron|ATP7A_ENST00000341514.6_Intron|ATP7A_ENST00000350425.4_Intron	NM_001029891.2	NP_001025062.1	Q8N0Y7	PGAM4_HUMAN	phosphoglycerate mutase family member 4	40			R -> C.		glycolysis		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity			endometrium(2)|lung(4)	6						CCTGCCCGCCGCGCTTCGCCT	0.627													7	79					0	0	1	0	0	A	77225016	G	A	77225016	2	1	216	1	0	0	0	0	0	0	0	1	11823	1074	38	1		1	PGAM4	23	77225016	Silent	SNP	G	TCGA-HI-7169-01A-11D-2114-08	40196591	77225016	78045544	62	10201											
DCAF12L2	340578	broad.mit.edu	37	chrX	125298898	125298898	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggccggatgttctgctggCgctggcgcggatccaggaag	5	7	19	10	4	1	0	0	0	1	0	2	3	2	3	2	7	1	3	2	7	1	1			TCGA-HI-7169-01A-11D-2114-08	TCGA-HI-7169-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e1fc4226-40ce-43b7-b92e-aa7cecd0cf4d	263e1015-1061-4ad2-8f7e-ed430d2d9e80	g.chrX:125298898C>T	ENST00000538699.1	-	2	1090	c.1010G>A	c.(1009-1011)cGc>cAc	p.R337H	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.R337H	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	337										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GTTCTGCTGGCGCTGGCGCGG	0.622													32	11					0	0	1	0	0	T	125298898	C	T	125298898	3	4	216	1	0	0	0	0	1	0	0	0	4289	768	27	1	385	1	DCAF12L2	23	125298898	Missense_Mutation	SNP	C	TCGA-HI-7169-01A-11D-2114-08	48073882	125298898	29971662	63	10202											
RERE	473	broad.mit.edu	37	chr1	8418694	8418694	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgctcccggagctcccgctCgcggatggtggggtcgacgt	3	7	16	15	7	0	0	0	0	0	0	4	3	2	2	3	5	1	3	3	5	0	0			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr1:8418694C>T	ENST00000337907.3	-	21	4535	c.3901G>A	c.(3901-3903)Gag>Aag	p.E1301K	RERE_ENST00000476556.1_Missense_Mutation_p.E747K|RERE_ENST00000400907.2_Intron|RERE_ENST00000400908.2_Missense_Mutation_p.E1301K|RERE_ENST00000377464.1_Missense_Mutation_p.E1033K	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1301	Arg/Glu-rich (mixed charge).				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		AGCTCCCGCTCGCGGATGGTG	0.667													3	29					0	0	0.150653	0	0	T	8418694	C	T	8418694	3	4	217	1	0	0	0	0	1	0	0	0	13283	893	31	1	815	1	RERE	1	8418694	Missense_Mutation	SNP	C	TCGA-HI-7170-01A-11D-2114-08		8418694	240831927	1	10203											
DNAJC16	23341	broad.mit.edu	37	chr1	15892459	15892459	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgatcttctctgccctcttCatcctcttcggcactgtcat	4	16	5	16	1	6	1	2	1	4	0	9	1	7	1	2	1	1	1	2	1	0	3			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr1:15892459C>G	ENST00000375847.3	+	12	1808	c.1644C>G	c.(1642-1644)ttC>ttG	p.F548L	DNAJC16_ENST00000375838.1_Missense_Mutation_p.F548L|DNAJC16_ENST00000375849.1_Missense_Mutation_p.F548L|DNAJC16_ENST00000483270.1_3'UTR	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	548					cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		CTGCCCTCTTCATCCTCTTCG	0.443													74	258					0	0	0.870114	0	0	G	15892459	C	G	15892459	3	3	217	1	0	0	0	0	1	0	0	0	4662	825	29	4	1686	4	DNAJC16	1	15892459	Missense_Mutation	SNP	C	TCGA-HI-7170-01A-11D-2114-08	7473765	15892459	233358162	2	10204											
EIF2B3	8891	broad.mit.edu	37	chr1	45407181	45407182	+	Frame_Shift_Ins	INS	-	-	T																															ctccaatcttccttacctgcINStttttttttccccttttgac																								rs148977100		TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr1:45407181_45407182insT	ENST00000360403.2	-	4	576_577	c.450_451insA	c.(448-453)aacagtfs	p.NS150fs	EIF2B3_ENST00000372183.3_Frame_Shift_Ins_p.NS150fs|EIF2B3_ENST00000480675.1_5'UTR	NM_001261418.1|NM_020365.4	NP_001248347.1|NP_065098.1	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa	150					negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	nucleotidyltransferase activity|protein binding|translation initiation factor activity			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	17	Acute lymphoblastic leukemia(166;0.155)					TCCTTACCTGCTTTTTTTTTCC	0.356													7	109	---	---	---	---						T	45407182	-	T	45407181	7	5	217	1	0	1	1	0	0	0	0	0	5028	797	28	0	980	0	EIF2B3	1	45407181	Frame_Shift_Ins	INS	-	TCGA-HI-7170-01A-11D-2114-08	29514722	45407181	203843440	3	10205											
MERTK	10461	broad.mit.edu	37	chr2	112702569	112702569	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcgttcagacaatgggtCgtatatctgtaagatgaaaa	14	10	11	6	2	2	3	1	1	1	2	3	3	2	3	0	1	1	4	0	1	6	4	rs143570667		TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr2:112702569C>A	ENST00000295408.4	+	3	772	c.515C>A	c.(514-516)tCg>tAg	p.S172*	MERTK_ENST00000409780.1_5'UTR|MERTK_ENST00000421804.2_Nonsense_Mutation_p.S172*			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	172	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						GACAATGGGTCGTATATCTGT	0.408													15	51					6.44725e-10	7.98231e-10	0.624587	1	0	A	112702569	C	A	112702569	4	1	217	1	0	0	0	0	0	1	0	0	9529	893	31	4	525	4	MERTK	2	112702569	Nonsense_Mutation	SNP	C	TCGA-HI-7170-01A-11D-2114-08		112702569	130496804	4	10206											
NUP210	23225	broad.mit.edu	37	chr3	13438886	13438886	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagggcctggatcttcagcTccaggggggagtcctccagg	6	7	15	13	0	2	0	1	0	1	0	5	2	5	2	5	6	1	1	5	6	0	1			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr3:13438886T>C	ENST00000254508.5	-	3	489	c.407A>G	c.(406-408)gAg>gGg	p.E136G		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	136					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					GATCTTCAGCTCCAGGGGGGA	0.602													19	41					0	0	0.608945	0	0	C	13438886	T	C	13438886	3	2	217	1	0	0	0	0	1	0	0	0	10808	1551	54	3	5408	3	NUP210	3	13438886	Missense_Mutation	SNP	T	TCGA-HI-7170-01A-11D-2114-08		13438886	184583544	5	10207											
COL7A1	1294	broad.mit.edu	37	chr3	48623134	48623134	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gacactcaccgggaggccagGgtcgccaggaggcccaactt	9	4	14	14	2	1	0	1	0	0	0	2	3	1	2	4	5	1	0	4	5	1	1			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr3:48623134G>T	ENST00000328333.8	-	30	3927	c.3820C>A	c.(3820-3822)Cct>Act	p.P1274T	COL7A1_ENST00000454817.1_Missense_Mutation_p.P1274T	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1274	Interrupted collagenous region.|Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGGAGGCCAGGGTCGCCAGGA	0.607													53	123					3.56336e-21	4.63237e-21	0.870114	1	0	T	48623134	G	T	48623134	3	4	217	1	0	0	0	0	1	0	0	0	3727	1232	43	4	5370	4	COL7A1	3	48623134	Missense_Mutation	SNP	G	TCGA-HI-7170-01A-11D-2114-08	35184248	48623134	149399296	6	10208											
RASSF1	11186	broad.mit.edu	37	chr3	50369518	50369518	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctgttgatctgggcattgTactccttgatcttctgctca	5	17	9	10	0	4	2	1	2	3	0	5	2	5	2	1	1	3	5	1	1	1	5			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr3:50369518T>C	ENST00000359365.4	-	3	531	c.425A>G	c.(424-426)tAc>tGc	p.Y142C	RASSF1_ENST00000357043.2_Missense_Mutation_p.Y146C|RASSF1_ENST00000395126.3_5'UTR|RASSF1_ENST00000327761.3_Missense_Mutation_p.Y72C	NM_001206957.1|NM_007182.4|NM_170714.1	NP_001193886.1|NP_009113.3|NP_733832.1	Q9NS23	RASF1_HUMAN	Ras association (RalGDS/AF-6) domain family member 1	146					cell cycle arrest|negative regulation of cell cycle arrest|positive regulation of protein ubiquitination|protein stabilization|Ras protein signal transduction|response to DNA damage stimulus	microtubule|microtubule cytoskeleton|microtubule organizing center|nucleus|spindle pole	identical protein binding|protein binding|protein N-terminus binding|zinc ion binding			lung(2)|ovary(1)|skin(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CTGGGCATTGTACTCCTTGAT	0.557													3	103					0	0	0.184627	0	0	C	50369518	T	C	50369518	3	2	217	1	0	0	0	0	1	0	0	0	13136	1638	57	3	613	3	RASSF1	3	50369518	Missense_Mutation	SNP	T	TCGA-HI-7170-01A-11D-2114-08	1746384	50369518	147652912	7	10209											
EPHB3	2049	broad.mit.edu	37	chr3	184298196	184298196	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttgttgcctgcagctcaacGatgggcagttcacggtcatc	7	11	11	12	2	3	0	3	0	0	0	4	1	3	0	1	2	4	5	1	2	1	3	rs34170386		TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr3:184298196G>A	ENST00000330394.2	+	12	2631	c.2179G>A	c.(2179-2181)Gat>Aat	p.D727N	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	727	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GCAGCTCAACGATGGGCAGTT	0.607													15	114					0	0	0.520397	0	0	A	184298196	G	A	184298196	3	1	217	1	0	0	0	0	1	0	0	0	5204	1058	37	1	2225	1	EPHB3	3	184298196	Missense_Mutation	SNP	G	TCGA-HI-7170-01A-11D-2114-08	133928678	184298196	13724234	8	10210											
GRXCR1	389207	broad.mit.edu	37	chr4	42895492	42895492	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggccacatagagtcagaagGtgatgagaatgagaatgacc	15	7	13	6	0	1	6	1	4	0	4	1	8	1	6	2	2	0	0	2	2	4	1			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr4:42895492G>A	ENST00000399770.2	+	1	209	c.209G>A	c.(208-210)gGt>gAt	p.G70D		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	70					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						GAGTCAGAAGGTGATGAGAAT	0.463													4	154					0	0	0.184627	0	0	A	42895492	G	A	42895492	3	1	217	1	0	0	0	0	1	0	0	0	6853	1261	44	2	211	2	GRXCR1	4	42895492	Missense_Mutation	SNP	G	TCGA-HI-7170-01A-11D-2114-08		42895492	148258784	9	10211											
SPATA18	132671	broad.mit.edu	37	chr4	52944970	52944970	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagaaaatcgttgacaccaTcttatgtggggtcgaatgac	12	11	11	7	2	1	3	0	3	1	1	3	5	1	3	1	2	0	1	1	2	4	2			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr4:52944970T>A	ENST00000295213.4	+	8	1464	c.1090T>A	c.(1090-1092)Tct>Act	p.S364T	SPATA18_ENST00000419395.2_Missense_Mutation_p.S332T	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	364					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			GTTGACACCATCTTATGTGGG	0.378													6	111					0	0	0.27861	0	0	A	52944970	T	A	52944970	3	1	217	1	0	0	0	0	1	0	0	0	15059	1435	50	5	1120	5	SPATA18	4	52944970	Missense_Mutation	SNP	T	TCGA-HI-7170-01A-11D-2114-08	10049478	52944970	138209306	10	10212											
UGT2B11	10720	broad.mit.edu	37	chr4	70066349	70066349	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcctttgtggggcatgaCaaattcaatccagaagactg	11	10	11	9	0	1	3	1	1	0	2	3	3	3	3	2	3	0	2	2	3	3	2			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr4:70066349C>A	ENST00000446444.1	-	6	1407	c.1399G>T	c.(1399-1401)Gtc>Ttc	p.V467F	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	467					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TGGGGCATGACAAATTCAATC	0.438													27	99					2.80507e-11	3.55765e-11	0.760397	1	0	A	70066349	C	A	70066349	3	1	217	1	0	0	0	0	1	0	0	0	17017	478	17	4	194	4	UGT2B11	4	70066349	Missense_Mutation	SNP	C	TCGA-HI-7170-01A-11D-2114-08	17121379	70066349	121087927	11	10213											
HELQ	113510	broad.mit.edu	37	chr4	84368107	84368107	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttcttttcccttcttttagTtggaggaaatcttcctttgc	5	21	6	9	0	3	0	0	0	3	0	5	2	5	2	2	2	1	1	2	2	2	9			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr4:84368107T>C	ENST00000295488.3	-	4	1435	c.1273A>G	c.(1273-1275)Act>Gct	p.T425A	HELQ_ENST00000510985.1_Intron	NM_133636.2	NP_598375.2	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	425	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						CTTCTTTTAGTTGGAGGAAAT	0.353								Other identified genes with known or suspected DNA repair function					12	48					0	0	0.435327	0	0	C	84368107	T	C	84368107	3	2	217	1	0	0	0	0	1	0	0	0	7088	1725	60	3	2092	3	HELQ	4	84368107	Missense_Mutation	SNP	T	TCGA-HI-7170-01A-11D-2114-08	14301758	84368107	106786169	12	10214											
WDR17	116966	broad.mit.edu	37	chr4	177058695	177058695	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tttaaattgtattgctggggGaacttcccgaaatggtgctt	9	15	11	6	1	0	0	0	0	0	0	1	2	1	1	1	3	3	3	1	3	5	7			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr4:177058695G>A	ENST00000393643.2	+	9	1544	c.1292G>A	c.(1291-1293)gGa>gAa	p.G431E	WDR17_ENST00000508596.1_Missense_Mutation_p.G431E|WDR17_ENST00000507824.2_Missense_Mutation_p.G438E|WDR17_ENST00000280190.4_Missense_Mutation_p.G455E	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	455										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		ATTGCTGGGGGAACTTCCCGA	0.289													14	45					0	0	0.520397	0	0	A	177058695	G	A	177058695	3	1	217	1	0	0	0	0	1	0	0	0	17337	1174	41	2	1398	2	WDR17	4	177058695	Missense_Mutation	SNP	G	TCGA-HI-7170-01A-11D-2114-08	92690588	177058695	14095581	13	10215											
GALNT10	55568	broad.mit.edu	37	chr5	153765900	153765900	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgatggccggtggactgttCgccgtggatcggaagtggtt	5	11	18	7	4	0	1	0	1	0	0	2	4	0	4	2	6	0	2	2	6	1	2			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr5:153765900C>T	ENST00000297107.6	+	7	1103	c.966C>T	c.(964-966)ttC>ttT	p.F322F	GALNT10_ENST00000519544.1_3'UTR|SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000425427.2_Silent_p.F322F|GALNT10_ENST00000377661.2_Silent_p.F260F	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)	322	Catalytic subdomain B.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GTGGACTGTTCGCCGTGGATC	0.572													41	130					0	0	0.870114	0	0	T	153765900	C	T	153765900	2	4	217	1	0	0	0	0	0	0	0	1	6248	883	31	1		1	GALNT10	5	153765900	Silent	SNP	C	TCGA-HI-7170-01A-11D-2114-08		153765900	27149360	14	10216											
TAS2R5	54429	broad.mit.edu	37	chr7	141490469	141490469	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caccttcctcagtgtcttctAttgcaagaagatcacgacct	10	12	6	13	1	4	2	2	0	2	2	5	3	5	2	3	0	1	1	3	0	3	4			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr7:141490469A>G	ENST00000247883.4	+	1	453	c.308A>G	c.(307-309)tAt>tGt	p.Y103C		NM_018980.2	NP_061853.1	Q9NYW4	TA2R5_HUMAN	taste receptor, type 2, member 5	103					chemosensory behavior|sensory perception of taste		taste receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9	Melanoma(164;0.0171)					AGTGTCTTCTATTGCAAGAAG	0.517													11	28					0	0	0.38729	0	0	G	141490469	A	G	141490469	3	3	217	1	0	0	0	0	1	0	0	0	15640	449	16	3	310	3	TAS2R5	7	141490469	Missense_Mutation	SNP	A	TCGA-HI-7170-01A-11D-2114-08		141490469	17648194	15	10217											
EN2	2020	broad.mit.edu	37	chr7	155255151	155255151	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttaccgccgagcagctgcaGaggctcaaggccgagttcca	9	7	12	13	3	1	1	1	0	0	1	2	3	2	1	4	2	4	5	4	2	2	3			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr7:155255151G>A	ENST00000297375.4	+	2	1020	c.771G>A	c.(769-771)caG>caA	p.Q257Q		NM_001427.3	NP_001418.2	P19622	HME2_HUMAN	engrailed homeobox 2	257						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(2)	4	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGCAGCTGCAGAGGCTCAAGG	0.592													12	52					0	0	0.457914	0	0	A	155255151	G	A	155255151	2	1	217	1	0	0	0	0	0	0	0	1	5138	933	33	2		2	EN2	7	155255151	Silent	SNP	G	TCGA-HI-7170-01A-11D-2114-08	13764682	155255151	3883512	16	10218											
LPPR1	0	broad.mit.edu	37	chr9	104086314	104086314	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttgctccacagaatcactCtgcgtccatgaccgaagtta	10	11	8	12	2	2	2	1	1	1	1	4	3	4	2	3	0	2	3	3	0	3	2			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr9:104086314C>A	ENST00000374874.3	+	8	1392	c.953C>A	c.(952-954)tCt>tAt	p.S318Y	LPPR1_ENST00000395056.2_Missense_Mutation_p.S318Y	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN		318						integral to membrane	catalytic activity										CAGAATCACTCTGCGTCCATG	0.418													4	47					0.0215528	0.0228723	0.217242	1	0	A	104086314	C	A	104086314	3	1	217	1	0	0	0	0	1	0	0	0	8969	913	32	4	979	4	LPPR1	9	104086314	Missense_Mutation	SNP	C	TCGA-HI-7170-01A-11D-2114-08		104086314	37127117	17	10219											
PLCE1	51196	broad.mit.edu	37	chr10	95849072	95849072	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggctcttcccgctctctgAggtacccaattttaccttgt	5	16	7	13	1	2	1	0	1	2	0	4	1	3	1	3	2	2	3	3	2	3	6			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr10:95849072A>T	ENST00000371375.1	+	1	221	c.221A>T	c.(220-222)gAg>gTg	p.E74V	PLCE1_ENST00000260766.3_Intron|PLCE1_ENST00000371380.2_Intron|PLCE1_ENST00000371385.3_Missense_Mutation_p.E74V|RP11-429H9.4_ENST00000438899.1_RNA			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	0					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CCGCTCTCTGAGGTACCCAAT	0.512													6	79					0	0	0.217242	0	0	T	95849072	A	T	95849072	3	4	217	1	0	0	0	0	1	0	0	0	12082	304	11	5	1433	5	PLCE1	10	95849072	Missense_Mutation	SNP	A	TCGA-HI-7170-01A-11D-2114-08		95849072	39685675	18	10220											
ADAM12	8038	broad.mit.edu	37	chr10	128019054	128019054	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cactgacaacttcatcagctCttccttggttccataagctc	9	13	5	14	0	3	1	2	1	1	0	6	1	5	1	2	1	3	3	2	1	2	5			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr10:128019054C>G	ENST00000368679.4	-	2	422	c.113G>C	c.(112-114)aGa>aCa	p.R38T	ADAM12_ENST00000368676.4_Missense_Mutation_p.R38T	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	38					cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		TTCATCAGCTCTTCCTTGGTT	0.458													20	89					0	0	0.639603	0	0	G	128019054	C	G	128019054	3	3	217	1	0	0	0	0	1	0	0	0	235	913	32	4	2812	4	ADAM12	10	128019054	Missense_Mutation	SNP	C	TCGA-HI-7170-01A-11D-2114-08	32169982	128019054	7515693	19	10221											
CPSF7	79869	broad.mit.edu	37	chr11	61196740	61196740	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagatcgcgagtccggaggaTggacaaagtaaggaagatgc	15	5	15	6	3	0	2	0	0	0	2	2	7	1	6	1	4	1	1	1	4	4	1			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr11:61196740T>C	ENST00000340437.4	-	2	177	c.97A>G	c.(97-99)Atc>Gtc	p.I33V	CPSF7_ENST00000448745.1_5'UTR|CPSF7_ENST00000439958.3_5'UTR|CPSF7_ENST00000541963.1_5'UTR|CPSF7_ENST00000394888.4_5'UTR	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	0					mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						GTCCGGAGGATGGACAAAGTA	0.502													18	61					0	0	0.539581	0	0	C	61196740	T	C	61196740	3	2	217	1	0	0	0	0	1	0	0	0	3853	1464	51	3	1479	3	CPSF7	11	61196740	Missense_Mutation	SNP	T	TCGA-HI-7170-01A-11D-2114-08		61196740	73809776	20	10222											
PRKAG1	5571	broad.mit.edu	37	chr12	49399105	49399105	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttaccaaggctgatttatagTagcggtgcaggatattgatg	11	13	12	5	1	0	2	0	2	0	0	0	3	0	3	1	3	3	3	1	3	6	7			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr12:49399105T>C	ENST00000548065.1	-	5	749	c.293A>G	c.(292-294)tAc>tGc	p.Y98C	RP11-386G11.5_ENST00000552284.1_RNA|PRKAG1_ENST00000316299.5_Missense_Mutation_p.Y107C|PRKAG1_ENST00000395170.3_Missense_Mutation_p.Y14C|RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA|PRKAG1_ENST00000547306.1_Missense_Mutation_p.Y47C|RP11-386G11.5_ENST00000552933.1_RNA|PRKAG1_ENST00000552212.1_Missense_Mutation_p.Y66C			P54619	AAKG1_HUMAN	protein kinase, AMP-activated, gamma 1 non-catalytic subunit	98	CBS 1.				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|positive regulation of protein kinase activity|regulation of fatty acid oxidation|regulation of glycolysis|spermatogenesis	cytosol	cAMP-dependent protein kinase activity|cAMP-dependent protein kinase regulator activity|protein kinase binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	9						TGATTTATAGTAGCGGTGCAG	0.478													26	80					0	0	0.769981	0	0	C	49399105	T	C	49399105	3	2	217	1	0	0	0	0	1	0	0	0	12552	1638	57	3	734	3	PRKAG1	12	49399105	Missense_Mutation	SNP	T	TCGA-HI-7170-01A-11D-2114-08		49399105	84452790	21	10223											
POMP	51371	broad.mit.edu	37	chr13	29242675	29242675	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attcagggtctatttgctccGctaaaattacagatggaatt	12	14	8	7	1	2	1	1	0	1	1	3	2	3	2	1	2	2	2	1	2	5	6			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr13:29242675G>A	ENST00000380842.4	+	4	309	c.228G>A	c.(226-228)ccG>ccA	p.P76P	POMP_ENST00000460403.1_3'UTR	NM_015932.5	NP_057016.1	Q9Y244	POMP_HUMAN	proteasome maturation protein	76					proteasome assembly	cytosol|endoplasmic reticulum|membrane|microsome|nucleus|proteasome complex				endometrium(2)|kidney(1)|large_intestine(1)	4		Lung SC(185;0.0367)		all cancers(112;0.141)|OV - Ovarian serous cystadenocarcinoma(117;0.216)		TATTTGCTCCGCTAAAATTAC	0.368													17	59					0	0	0.592651	0	0	A	29242675	G	A	29242675	2	1	217	1	0	0	0	0	0	0	0	1	12292	1074	38	1		1	POMP	13	29242675	Silent	SNP	G	TCGA-HI-7170-01A-11D-2114-08		29242675	85927203	22	10224											
RPGRIP1	57096	broad.mit.edu	37	chr14	21790127	21790127	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ataaccgtatcaagcagctgGaaggtattttaagaagccat	15	10	9	7	1	1	1	1	0	0	1	1	2	1	2	2	2	4	4	2	2	7	5			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr14:21790127G>T	ENST00000206660.6	+	13	1726	c.1726G>T	c.(1726-1728)Gaa>Taa	p.E576*	RPGRIP1_ENST00000400017.2_Nonsense_Mutation_p.E576*|RPGRIP1_ENST00000553500.1_3'UTR|RPGRIP1_ENST00000557771.1_Nonsense_Mutation_p.E549*|RPGRIP1_ENST00000382933.4_Nonsense_Mutation_p.E218*|RPGRIP1_ENST00000556336.1_Nonsense_Mutation_p.E549*			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	576					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CAAGCAGCTGGAAGGTATTTT	0.443													5	26					0.000157383	0.000181865	0.27861	1	0	T	21790127	G	T	21790127	4	4	217	1	0	0	0	0	0	1	0	0	13601	1175	41	4	1776	4	RPGRIP1	14	21790127	Nonsense_Mutation	SNP	G	TCGA-HI-7170-01A-11D-2114-08		21790127	85559413	23	10225											
NYNRIN	57523	broad.mit.edu	37	chr14	24884617	24884617	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccctcaagcatttttcccGctgcattggagacaccccgg	7	9	10	15	2	1	1	1	0	0	1	2	2	2	1	4	3	2	3	4	3	1	3			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr14:24884617G>A	ENST00000382554.3	+	9	3980	c.3662G>A	c.(3661-3663)cGc>cAc	p.R1221H		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1221					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CATTTTTCCCGCTGCATTGGA	0.632													4	46					0	0	0.184627	0	0	A	24884617	G	A	24884617	3	1	217	1	0	0	0	0	1	0	0	0	10844	1087	38	1	3692	1	NYNRIN	14	24884617	Missense_Mutation	SNP	G	TCGA-HI-7170-01A-11D-2114-08	3094490	24884617	82464923	24	10226											
ANKRD11	29123	broad.mit.edu	37	chr16	89349914	89349916	+	In_Frame_Del	DEL	CTT	CTT	-																															ctttccttatcggggccatcCttcttctccttctctcgtgc																										TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr16:89349914_89349916delCTT	ENST00000301030.4	-	9	3494_3496	c.3034_3036delAAG	c.(3034-3036)del	p.K1012del	ANKRD11_ENST00000378330.2_In_Frame_Del_p.K1012del	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1012	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CGGGGCCATCCTTCTTCTCCTTC	0.512													27	94	---	---	---	---						-	89349916	CTT	-	89349914	7	5	217	1	0	1	0	1	0	0	0	0	635	680	24	0	4975	0	ANKRD11	16	89349914	In_Frame_Del	DEL	CTT	TCGA-HI-7170-01A-11D-2114-08		89349914	1004839	25	10227											
ANKLE1	126549	broad.mit.edu	37	chr19	17394284	17394284	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggacccagcctcggacacTcccccctgggctgggtcatt	6	7	12	16	1	1	0	1	0	0	0	3	3	2	2	5	4	1	1	5	4	0	1			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr19:17394284T>C	ENST00000394458.3	+	5	987	c.711T>C	c.(709-711)acT>acC	p.T237T	ANKLE1_ENST00000598347.1_Silent_p.T237T|ANKLE1_ENST00000594072.1_Silent_p.T226T|ANKLE1_ENST00000404085.1_Silent_p.T259T|ANKLE1_ENST00000433424.2_Silent_p.T291T	NM_152363.4	NP_689576.4	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	237						nuclear envelope				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						CCTCGGACACTCCCCCCTGGG	0.632													3	64					0	0	0.115264	0	0	C	17394284	T	C	17394284	2	2	217	1	0	0	0	0	0	0	0	1	628	1538	54	3		3	ANKLE1	19	17394284	Silent	SNP	T	TCGA-HI-7170-01A-11D-2114-08		17394284	41734699	26	10228											
VASP	7408	broad.mit.edu	37	chr19	46020999	46020999	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgatggctccctgctggcacGggtccccaggccttcagccg	4	7	13	17	3	1	0	1	0	0	0	3	1	3	0	5	4	2	3	5	4	0	1			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr19:46020999G>T	ENST00000245932.6	+	2	440	c.84G>T	c.(82-84)acG>acT	p.T28T	VASP_ENST00000586619.1_3'UTR	NM_003370.3	NP_003361.1	P50552	VASP_HUMAN	vasodilator-stimulated phosphoprotein	28	WH1.				axon guidance|cell junction assembly|T cell receptor signaling pathway	actin cytoskeleton|cytosol|filopodium membrane|focal adhesion|lamellipodium membrane	actin binding|profilin binding|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)	18		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154)		CTGCTGGCACGGGTCCCCAGG	0.627													3	72					0.115264	0.119875	0.115264	1	0	T	46020999	G	T	46020999	2	4	217	1	0	0	0	0	0	0	0	1	17188	1103	39	4		4	VASP	19	46020999	Silent	SNP	G	TCGA-HI-7170-01A-11D-2114-08	28626715	46020999	13107984	27	10229											
PRR12	57479	broad.mit.edu	37	chr19	50102809	50102809	+	Frame_Shift_Del	DEL	G	G	-																															gccaccctctgtgccagcccGaggcctgcagccccagcccc																										TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr19:50102809delG	ENST00000418929.2	+	5	3971	c.3959delG	c.(3958-3960)cafs	p.R1320fs		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	499							DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		GTGCCAGCCCGAGGCCTGCAG	0.692													2	4	---	---	---	---						-	50102809	G	-	50102809	7	5	217	1	0	1	0	1	0	0	0	0	12636	1058	37	0	3977	0	PRR12	19	50102809	Frame_Shift_Del	DEL	G	TCGA-HI-7170-01A-11D-2114-08	4081810	50102809	9026174	28	10230											
CENPB	1059	broad.mit.edu	37	chr20	3766889	3766889	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgctggaaccaggcgatgAgcaagccctcgagcttgtcg	8	8	13	12	3	1	1	0	1	1	0	3	4	1	2	2	2	5	3	2	2	2	1			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chr20:3766889A>T	ENST00000379751.4	-	1	448	c.242T>A	c.(241-243)cTc>cAc	p.L81H		NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa	81	HTH CENPB-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						CCAGGCGATGAGCAAGCCCTC	0.652													21	44					0	0	0.681144	0	0	T	3766889	A	T	3766889	3	4	217	1	0	0	0	0	1	0	0	0	3249	304	11	5	1561	5	CENPB	20	3766889	Missense_Mutation	SNP	A	TCGA-HI-7170-01A-11D-2114-08		3766889	59258631	29	10231											
ZRSR2	8233	broad.mit.edu	37	chrX	15809137	15809137	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgctcgactgagagactcagGtgatggactctttattctgt	8	14	11	8	1	3	3	1	2	2	1	4	6	3	4	0	2	1	1	0	2	1	3			TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chrX:15809137G>T	ENST00000307771.7	+	2	145		c.e2+1		ZRSR2_ENST00000468028.1_Splice_Site|ZRSR2_ENST00000380308.3_Splice_Site	NM_005089.3	NP_005080.1	Q15696	U2AFM_HUMAN	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2						spliceosome assembly	U12-type spliceosomal complex	nucleotide binding|pre-mRNA 3'-splice site binding|protein binding|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2)	48	Hepatocellular(33;0.183)					AGAGACTCAGGTGATGGACTC	0.458			"F, S, Mis"		"MDS, CLL"								6	13					0.000157383	0.000181865	0.27861	1	0	T	15809137	G	T	15809137	5	4	217	1	0	0	0	0	0	0	1	0	18267	1275	44	4	128	4	ZRSR2	23	15809137	Splice_Site	SNP	G	TCGA-HI-7170-01A-11D-2114-08		15809137	139461423	30	10232											
SAGE1	55511	broad.mit.edu	37	chrX	134988581	134988581	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtttccagatgctacagtcActcacaatgtctgtgaacag	11	11	9	10	0	3	2	2	1	1	1	4	2	4	2	1	1	3	2	1	1	3	2	rs145404090	byFrequency	TCGA-HI-7170-01A-11D-2114-08	TCGA-HI-7170-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10812a81-93f3-4eb6-967f-b415d2263f0e	473c4d37-6639-45f0-a67a-8e34049d0b29	g.chrX:134988581A>C	ENST00000535938.1	+	7	774	c.607A>C	c.(607-609)Act>Cct	p.T203P	SAGE1_ENST00000370709.3_Missense_Mutation_p.T203P|SAGE1_ENST00000324447.3_Missense_Mutation_p.T203P|SAGE1_ENST00000537770.1_Intron	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	203										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					TGCTACAGTCACTCACAATGT	0.443													43	101					0	0	0.870114	0	0	C	134988581	A	C	134988581	3	2	217	1	0	0	0	0	1	0	0	0	13861	159	6	5	629	5	SAGE1	23	134988581	Missense_Mutation	SNP	A	TCGA-HI-7170-01A-11D-2114-08	119179444	134988581	20281979	31	10233											
LCE3E	353145	broad.mit.edu	37	chr1	152538501	152538501	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggacctctggcgccggcatcGgtggtggcgcctgtggtggt	2	9	19	11	4	1	0	0	0	1	0	2	1	1	1	3	8	0	1	3	8	0	0	rs140473829		TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr1:152538501G>A	ENST00000368789.1	-	2	239	c.184C>T	c.(184-186)Cga>Tga	p.R62*		NM_178435.2	NP_848522.1	Q5T5B0	LCE3E_HUMAN	late cornified envelope 3E	62					keratinization					lung(6)|ovary(1)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		Lung(1;0.000294)|LUAD - Lung adenocarcinoma(1;0.00527)|LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)		CGCCGGCATCGGTGGTGGCGC	0.682													6	62					0	0	1	0	0	A	152538501	G	A	152538501	4	1	218	1	0	0	0	0	0	1	0	0	8712	1124	39	1	98	1	LCE3E	1	152538501	Nonsense_Mutation	SNP	G	TCGA-HI-7171-01A-12D-2114-08		152538501	96712120	1	10234											
SELE	6401	broad.mit.edu	37	chr1	169696555	169696555	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgtccgagctgcagagccaTtgagcgtccatccttcagga	9	9	11	12	2	1	2	1	1	0	1	4	4	4	3	4	1	4	2	4	1	0	2			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr1:169696555T>C	ENST00000333360.7	-	10	1719	c.1580A>G	c.(1579-1581)aAt>aGt	p.N527S	SELE_ENST00000367782.4_Missense_Mutation_p.N464S|SELE_ENST00000367780.4_Missense_Mutation_p.N402S|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367779.4_Missense_Mutation_p.N401S|SELE_ENST00000367781.4_Missense_Mutation_p.N464S|SELE_ENST00000367775.1_Missense_Mutation_p.N402S|SELE_ENST00000367777.1_Missense_Mutation_p.N464S|SELE_ENST00000367774.1_Missense_Mutation_p.N401S|SELE_ENST00000367776.1_Missense_Mutation_p.N464S	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	527	Sushi 6.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					TGCAGAGCCATTGAGCGTCCA	0.552													6	69					0	0	1	0	0	C	169696555	T	C	169696555	3	2	218	1	0	0	0	0	1	0	0	0	14067	1493	52	3	268	3	SELE	1	169696555	Missense_Mutation	SNP	T	TCGA-HI-7171-01A-12D-2114-08	17158054	169696555	79554066	2	10235											
GJC2	57165	broad.mit.edu	37	chr1	228345673	228345673	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtctgctatgacgccttcGcgcccctgtcgcacgtgcgc	4	9	11	17	7	1	1	0	1	1	0	3	1	1	1	3	0	2	2	3	0	1	2			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr1:228345673G>A	ENST00000366714.2	+	2	389	c.214G>A	c.(214-216)Gcg>Acg	p.A72T		NM_020435.3	NP_065168.2	Q5T442	CXG2_HUMAN	gap junction protein, gamma 2, 47kDa	72					cell death	connexon complex|integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Prostate(94;0.0405)				TGACGCCTTCGCGCCCCTGTC	0.657													6	28					0	0	1	0	0	A	228345673	G	A	228345673	3	1	218	1	0	0	0	0	1	0	0	0	6457	1087	38	1	216	1	GJC2	1	228345673	Missense_Mutation	SNP	G	TCGA-HI-7171-01A-12D-2114-08	58649118	228345673	20904948	3	10236											
PXDN	7837	broad.mit.edu	37	chr2	1677528	1677528	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgtgttctggatcatcAgggtcccatcgtccagcaag	7	11	11	12	1	3	0	2	0	1	0	6	1	5	1	3	2	1	2	3	2	1	1			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr2:1677528A>G	ENST00000252804.4	-	9	955	c.905T>C	c.(904-906)cTg>cCg	p.L302P	PXDN_ENST00000483018.1_5'UTR	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	302	Ig-like C2-type 1.				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)		CTGGATCATCAGGGTCCCATC	0.502													3	137					0	0	1	0	0	G	1677528	A	G	1677528	3	3	218	1	0	0	0	0	1	0	0	0	12899	188	7	3	3594	3	PXDN	2	1677528	Missense_Mutation	SNP	A	TCGA-HI-7171-01A-12D-2114-08		1677528	241521845	4	10237											
C2orf42	54980	broad.mit.edu	37	chr2	70408850	70408850	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgaaaccccgagctccaCaaagcatcggtaatcagggc	12	6	9	14	2	2	1	1	1	1	0	4	2	3	1	3	2	3	3	3	2	3	1			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr2:70408850C>T	ENST00000264434.2	-	3	647	c.268G>A	c.(268-270)Gtg>Atg	p.V90M	C2orf42_ENST00000470096.1_5'UTR|C2orf42_ENST00000420306.1_Missense_Mutation_p.V90M	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN	chromosome 2 open reading frame 42	90										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						CCGAGCTCCACAAAGCATCGG	0.522													8	75					0	0	1	0	0	T	70408850	C	T	70408850	3	4	218	1	0	0	0	0	1	0	0	0	2180	478	17	2	1488	2	C2orf42	2	70408850	Missense_Mutation	SNP	C	TCGA-HI-7171-01A-12D-2114-08	68731322	70408850	172790523	5	10238											
SCN7A	6332	broad.mit.edu	37	chr2	167266417	167266417	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaagcttggcttgttaccAcatcaaagatgaatccttgg	13	12	8	8	0	1	2	1	1	0	1	2	2	2	2	2	2	2	3	2	2	5	5			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr2:167266417A>T	ENST00000409855.1	-	24	3866	c.3740T>A	c.(3739-3741)gTg>gAg	p.V1247E		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1247					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						GCTTGTTACCACATCAAAGAT	0.338													4	2					0	0	1	0	0	T	167266417	A	T	167266417	3	4	218	1	0	0	0	0	1	0	0	0	13977	159	6	5	1316	5	SCN7A	2	167266417	Missense_Mutation	SNP	A	TCGA-HI-7171-01A-12D-2114-08	96857567	167266417	75932956	6	10239											
TNS1	7145	broad.mit.edu	37	chr2	218673380	218673380	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgttgagagggtagtggCgtctgaaaaagagcctgcag	11	8	16	6	1	1	3	0	2	1	2	1	4	1	3	1	2	2	3	1	2	3	2			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr2:218673380C>T	ENST00000171887.4	-	31	5428	c.4976G>A	c.(4975-4977)cGc>cAc	p.R1659H	TNS1_ENST00000419504.1_Missense_Mutation_p.R1645H|TNS1_ENST00000430930.1_Missense_Mutation_p.R1638H	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1659						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		AGGGTAGTGGCGTCTGAAAAA	0.502													21	105					0	0	1	0	0	T	218673380	C	T	218673380	3	4	218	1	0	0	0	0	1	0	0	0	16403	768	27	1	243	1	TNS1	2	218673380	Missense_Mutation	SNP	C	TCGA-HI-7171-01A-12D-2114-08	51406963	218673380	24525993	7	10240											
IL7R	3575	broad.mit.edu	37	chr5	35871289	35871289	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcacgatgtagcttaccgcCaggaaaaggatgaaaacaaa	17	6	10	8	2	0	1	0	1	0	0	0	4	0	3	2	2	4	3	2	2	7	2			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr5:35871289C>A	ENST00000303115.3	+	4	640	c.511C>A	c.(511-513)Cag>Aag	p.Q171K	IL7R_ENST00000506850.1_Missense_Mutation_p.Q171K|IL7R_ENST00000343305.4_Missense_Mutation_p.Q171K	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	171	Fibronectin type-III.				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			AGCTTACCGCCAGGAAAAGGA	0.348			"Mis, O"		"ALL, ETP ALL"		Severe combined immune deficiency						5	44					0.00307968	0.00336483	1	1	0	A	35871289	C	A	35871289	3	1	218	1	0	0	0	0	1	0	0	0	7749	595	21	4	525	4	IL7R	5	35871289	Missense_Mutation	SNP	C	TCGA-HI-7171-01A-12D-2114-08		35871289	145043971	8	10241											
EFNA5	1946	broad.mit.edu	37	chr5	106723460	106723460	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggaccttcttccattatctGggattgcagaggctgtgggt	7	13	13	8	0	2	1	0	0	2	1	3	3	3	3	2	4	1	2	2	4	1	4			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr5:106723460G>A	ENST00000333274.6	-	3	712	c.431C>T	c.(430-432)cCa>cTa	p.P144L	EFNA5_ENST00000510359.1_5'UTR|EFNA5_ENST00000509503.1_Missense_Mutation_p.P144L	NM_001962.2	NP_001953.1	P52803	EFNA5_HUMAN	ephrin-A5	144					cell-cell signaling	anchored to plasma membrane|caveola|extracellular space	ephrin receptor binding			large_intestine(6)	6		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)		TCCATTATCTGGGATTGCAGA	0.423													15	80					0	0	1	0	0	A	106723460	G	A	106723460	3	1	218	1	0	0	0	0	1	0	0	0	4980	1348	47	2	267	2	EFNA5	5	106723460	Missense_Mutation	SNP	G	TCGA-HI-7171-01A-12D-2114-08	70852171	106723460	74191800	9	10242											
TBCC	6903	broad.mit.edu	37	chr6	42713803	42713803	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagcagcggagcaactgacGgactccatattggcttcaag	11	7	12	11	2	1	1	1	1	0	0	2	3	2	3	1	3	4	4	1	3	3	3			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr6:42713803G>A	ENST00000244625.2	-	2	572	c.9C>T	c.(7-9)tcC>tcT	p.S3S	TBCC_ENST00000372876.1_Silent_p.S3S			Q15814	TBCC_HUMAN	tubulin folding cofactor C	3					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|photoreceptor connecting cilium	chaperone binding|GTPase activity	p.S3S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3)	14	Colorectal(47;0.196)		all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)			AGCAACTGACGGACTCCATAT	0.617													19	44					0	0	1	0	0	A	42713803	G	A	42713803	2	1	218	1	0	0	0	0	0	0	0	1	15691	1103	39	1		1	TBCC	6	42713803	Silent	SNP	G	TCGA-HI-7171-01A-12D-2114-08		42713803	128401264	10	10243											
GCM1	8521	broad.mit.edu	37	chr6	53010374	53010374	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgtggcagtttcacatcAttaatatcccagcttaatat	12	14	5	10	0	2	0	2	0	0	0	3	0	3	0	2	1	1	3	2	1	4	5			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr6:53010374A>G	ENST00000259803.7	-	2	268	c.57T>C	c.(55-57)aaT>aaC	p.N19N		NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	19						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					GTTTCACATCATTAATATCCC	0.423													3	112					0	0	1	0	0	G	53010374	A	G	53010374	2	3	218	1	0	0	0	0	0	0	0	1	6337	214	8	3		3	GCM1	6	53010374	Silent	SNP	A	TCGA-HI-7171-01A-12D-2114-08	10296571	53010374	118104693	11	10244											
NEUROD6	63974	broad.mit.edu	37	chr7	31378577	31378577	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgcatcctgttcctctcGcgcgcgttcgcttcctgtct	1	14	9	17	6	2	0	0	0	2	0	7	0	5	0	4	0	1	4	4	0	0	3			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr7:31378577G>A	ENST00000297142.3	-	2	628	c.306C>T	c.(304-306)cgC>cgT	p.R102R		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	102					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						TGTTCCTCTCGCGCGCGTTCG	0.473													14	137					0	0	1	0	0	A	31378577	G	A	31378577	2	1	218	1	0	0	0	0	0	0	0	1	10398	1074	38	1		1	NEUROD6	7	31378577	Silent	SNP	G	TCGA-HI-7171-01A-12D-2114-08		31378577	127760086	12	10245											
ABCA13	154664	broad.mit.edu	37	chr7	48266917	48266917	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaagcctccatcagcagcCtcatatctgggattttctac	10	11	8	12	0	4	0	2	0	2	0	5	2	5	2	3	2	4	1	3	2	3	4			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr7:48266917C>T	ENST00000435803.1	+	6	551	c.527C>T	c.(526-528)cCt>cTt	p.P176L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	176					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CATCAGCAGCCTCATATCTGG	0.433													14	103					0	0	1	0	0	T	48266917	C	T	48266917	3	4	218	1	0	0	0	0	1	0	0	0	31	681	24	2	378	2	ABCA13	7	48266917	Missense_Mutation	SNP	C	TCGA-HI-7171-01A-12D-2114-08	16888340	48266917	110871746	13	10246											
PRDM14	63978	broad.mit.edu	37	chr8	70981761	70981761	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctgctgctcaggaagggcGgcacttccctggggacgtgg	5	7	18	11	2	1	0	1	0	0	0	2	2	2	2	1	7	2	4	1	7	1	1			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr8:70981761G>A	ENST00000276594.2	-	2	536	c.335C>T	c.(334-336)cCg>cTg	p.P112L		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	112					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			CAGGAAGGGCGGCACTTCCCT	0.627													11	8					0	0	1	0	0	A	70981761	G	A	70981761	3	1	218	1	0	0	0	0	1	0	0	0	12507	1116	39	1	1408	1	PRDM14	8	70981761	Missense_Mutation	SNP	G	TCGA-HI-7171-01A-12D-2114-08		70981761	75382261	14	10247											
COL22A1	169044	broad.mit.edu	37	chr8	139890301	139890301	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtagcggagcgcgtctcccGtgttggtgttgcccccgtgg	2	11	16	12	5	1	0	0	0	1	0	2	1	1	1	3	3	3	3	3	3	1	3			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr8:139890301G>A	ENST00000303045.6	-	3	796	c.350C>T	c.(349-351)aCg>aTg	p.T117M	COL22A1_ENST00000435777.1_Missense_Mutation_p.T117M	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	117	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CGCGTCTCCCGTGTTGGTGTT	0.706										HNSCC(7;0.00092)			5	4					0	0	1	0	0	A	139890301	G	A	139890301	3	1	218	1	0	0	0	0	1	0	0	0	3704	1145	40	1	4782	1	COL22A1	8	139890301	Missense_Mutation	SNP	G	TCGA-HI-7171-01A-12D-2114-08	68908540	139890301	6473721	15	10248											
A1CF	29974	broad.mit.edu	37	chr10	52595833	52595833	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttgaggaggggattgctaaCctggtagcagtttcctcctc	7	13	12	9	0	0	1	0	1	0	0	3	3	2	3	3	4	3	4	3	4	2	5			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr10:52595833C>A	ENST00000395489.2	-	8	980		c.e8+1		A1CF_ENST00000395495.1_Splice_Site|A1CF_ENST00000373997.3_Splice_Site|A1CF_ENST00000373993.1_Splice_Site|A1CF_ENST00000282641.2_Splice_Site|A1CF_ENST00000374001.1_Splice_Site|A1CF_ENST00000373995.3_Splice_Site	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor						cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						GGATTGCTAACCTGGTAGCAG	0.463													29	49					2.75727e-19	3.12844e-19	1	1	0	A	52595833	C	A	52595833	5	1	218	1	0	0	0	0	0	0	1	0	2	521	18	4	1211	4	A1CF	10	52595833	Splice_Site	SNP	C	TCGA-HI-7171-01A-12D-2114-08		52595833	82938914	16	10249											
MKI67	4288	broad.mit.edu	37	chr10	129905901	129905901	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcagggctgagagctccttCtgtacgtcccttttctccaa	6	14	8	13	1	3	1	1	1	2	1	6	2	5	1	3	1	2	3	3	1	2	5			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr10:129905901C>T	ENST00000368654.3	-	13	4578	c.4203G>A	c.(4201-4203)caG>caA	p.Q1401Q	MKI67_ENST00000368653.3_Silent_p.Q1041Q	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1401	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AGAGCTCCTTCTGTACGTCCC	0.493													4	205					0	0	1	0	0	T	129905901	C	T	129905901	2	4	218	1	0	0	0	0	0	0	0	1	9646	912	32	2		2	MKI67	10	129905901	Silent	SNP	C	TCGA-HI-7171-01A-12D-2114-08	77310068	129905901	5628846	17	10250											
SIGIRR	59307	broad.mit.edu	37	chr11	407863	407863	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctggtaccagagcagcacGttgagacggcacttgacata	11	8	11	11	2	0	3	0	2	0	2	1	4	1	3	2	2	3	5	2	2	2	4			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr11:407863G>A	ENST00000431843.2	-	5	741	c.435C>T	c.(433-435)aaC>aaT	p.N145N	SIGIRR_ENST00000531205.1_Silent_p.N145N|SIGIRR_ENST00000529486.1_5'UTR|SIGIRR_ENST00000397632.3_Silent_p.N145N|SIGIRR_ENST00000382520.2_Silent_p.N145N|SIGIRR_ENST00000332725.3_Silent_p.N145N	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN	single immunoglobulin and toll-interleukin 1 receptor (TIR) domain	145					acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity			cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGAGCAGCACGTTGAGACGGC	0.687													19	120					0	0	1	0	0	A	407863	G	A	407863	2	1	218	1	0	0	0	0	0	0	0	1	14359	1136	40	1		1	SIGIRR	11	407863	Silent	SNP	G	TCGA-HI-7171-01A-12D-2114-08		407863	134598653	18	10251											
OR51G1	79324	broad.mit.edu	37	chr11	4945119	4945119	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggagagcacttctaagcaCtgagcttagccccatcttga	11	9	10	11	0	2	3	0	2	2	1	2	5	2	3	2	1	4	3	2	1	2	4			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr11:4945119C>A	ENST00000321961.2	-	1	518	c.451G>T	c.(451-453)Gtg>Ttg	p.V151L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTTCTAAGCACTGAGCTTAGC	0.532													34	35					5.04308e-16	5.61399e-16	1	1	0	A	4945119	C	A	4945119	3	1	218	1	0	0	0	0	1	0	0	0	11146	565	20	4	516	4	OR51G1	11	4945119	Missense_Mutation	SNP	C	TCGA-HI-7171-01A-12D-2114-08	4537256	4945119	130061397	19	10252											
AHNAK	79026	broad.mit.edu	37	chr11	62289690	62289690	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatcctggcatgctgaattTgggcattttcaccttgggca	9	13	10	9	0	1	1	1	1	0	0	2	1	2	1	2	3	1	4	2	3	2	4			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr11:62289690T>A	ENST00000378024.4	-	5	12473	c.12199A>T	c.(12199-12201)Aaa>Taa	p.K4067*	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4067					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATGCTGAATTTGGGCATTTTC	0.493													31	265					0	0	1	0	0	A	62289690	T	A	62289690	4	1	218	1	0	0	0	0	0	1	0	0	411	1821	63	5	5593	5	AHNAK	11	62289690	Nonsense_Mutation	SNP	T	TCGA-HI-7171-01A-12D-2114-08	57344571	62289690	72716826	20	10253											
SESN3	143686	broad.mit.edu	37	chr11	94924639	94924639	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacatgtaaaactggctccGcaagaaagactccaggtact	15	7	8	11	1	0	2	0	0	0	2	2	2	2	2	2	2	3	4	2	2	6	2			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr11:94924639G>A	ENST00000536441.1	-	3	607	c.271C>T	c.(271-273)Cgg>Tgg	p.R91W	RP11-712B9.2_ENST00000534864.1_RNA|RP11-712B9.2_ENST00000534891.1_RNA|SESN3_ENST00000416495.2_Missense_Mutation_p.R91W|SESN3_ENST00000393234.1_Missense_Mutation_p.R91W|SESN3_ENST00000278499.2_Missense_Mutation_p.R13W	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN	sestrin 3	91					cell cycle arrest	nucleus				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		AACTGGCTCCGCAAGAAAGAC	0.443													50	78					0	0	1	0	0	A	94924639	G	A	94924639	3	1	218	1	0	0	0	0	1	0	0	0	14180	1086	38	1	1239	1	SESN3	11	94924639	Missense_Mutation	SNP	G	TCGA-HI-7171-01A-12D-2114-08	32634949	94924639	40081877	21	10254											
BCAT1	586	broad.mit.edu	37	chr12	25047312	25047312	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actctgaggaccactccaccGtcagcatatgatccgtgaac	11	8	8	14	2	2	3	1	3	1	0	4	4	4	4	4	1	2	1	4	1	2	1	rs17374285	by1000genomes	TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr12:25047312G>A	ENST00000261192.7	-	3	702	c.176C>T	c.(175-177)aCg>aTg	p.T59M	BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000539282.1_Missense_Mutation_p.T71M|BCAT1_ENST00000538118.1_Missense_Mutation_p.T58M|BCAT1_ENST00000342945.5_Missense_Mutation_p.T35M|BCAT1_ENST00000539780.1_Missense_Mutation_p.T59M	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic	59			T -> M (in dbSNP:rs17374285).		branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	CCACTCCACCGTCAGCATATG	0.463													10	14					0	0	1	0	0	A	25047312	G	A	25047312	3	1	218	1	0	0	0	0	1	0	0	0	1352	1145	40	1	1020	1	BCAT1	12	25047312	Missense_Mutation	SNP	G	TCGA-HI-7171-01A-12D-2114-08		25047312	108804583	22	10255											
OR6C76	390326	broad.mit.edu	37	chr12	55820867	55820867	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtagctatactcaatacctCtgtcgctcctatgctgaatc	10	13	6	12	1	2	1	1	1	1	0	5	1	3	1	2	0	4	4	2	0	7	5			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr12:55820867C>G	ENST00000328314.3	+	1	830	c.830C>G	c.(829-831)tCt>tGt	p.S277C		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CTCAATACCTCTGTCGCTCCT	0.378													22	29					0	0	1	0	0	G	55820867	C	G	55820867	3	3	218	1	0	0	0	0	1	0	0	0	11247	913	32	4	832	4	OR6C76	12	55820867	Missense_Mutation	SNP	C	TCGA-HI-7171-01A-12D-2114-08	30773555	55820867	78031028	23	10256											
MYF5	4617	broad.mit.edu	37	chr12	81110950	81110950	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacgagtttgtgccgcgagtGgctgccttcggagcgcacaa	7	8	15	11	5	0	0	0	0	0	0	1	4	0	1	2	2	3	3	2	2	1	2			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr12:81110950G>T	ENST00000228644.3	+	1	260	c.108G>T	c.(106-108)gtG>gtT	p.V36V		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	36					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						TGCCGCGAGTGGCTGCCTTCG	0.612													10	13					0.00829132	0.00889432	1	1	0	T	81110950	G	T	81110950	2	4	218	1	0	0	0	0	0	0	0	1	10075	1335	47	4		4	MYF5	12	81110950	Silent	SNP	G	TCGA-HI-7171-01A-12D-2114-08	25290083	81110950	52740945	24	10257											
HNF1A	6927	broad.mit.edu	37	chr12	121434123	121434123	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtaccctcaagcagcggCggtcccttagtgacagtgtc	9	8	12	12	2	1	1	1	1	0	0	3	2	2	1	2	2	3	2	2	2	4	2			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr12:121434123C>T	ENST00000257555.6	+	5	1240	c.1014C>T	c.(1012-1014)ggC>ggT	p.G338G	HNF1A_ENST00000543427.1_Silent_p.G221G|HNF1A_ENST00000402929.1_Silent_p.G338G|HNF1A_ENST00000400024.2_Silent_p.G338G|HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000544413.1_Silent_p.G338G|HNF1A_ENST00000541395.1_Silent_p.G338G			P20823	HNF1A_HUMAN	HNF1 homeobox A	338					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CAAGCAGCGGCGGTCCCTTAG	0.622									Hepatic Adenoma, Familial Clustering of				29	118					0	0	1	0	0	T	121434123	C	T	121434123	2	4	218	1	0	0	0	0	0	0	0	1	7292	755	27	1		1	HNF1A	12	121434123	Silent	SNP	C	TCGA-HI-7171-01A-12D-2114-08	40323173	121434123	12417772	25	10258											
ATP6V0A2	23545	broad.mit.edu	37	chr12	124241431	124241431	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacaccacctatggcgtctTgctactgctcccggttatcg	6	12	9	14	3	1	1	0	1	1	0	3	1	2	1	3	2	3	3	3	2	3	4			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr12:124241431T>G	ENST00000330342.3	+	19	2611	c.2363T>G	c.(2362-2364)tTg>tGg	p.L788W	ATP6V0A2_ENST00000544833.1_Missense_Mutation_p.L70W|ATP6V0A2_ENST00000543687.1_3'UTR	NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	788					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		TATGGCGTCTTGCTACTGCTC	0.552													9	127					0	0	1	0	0	G	124241431	T	G	124241431	3	3	218	1	0	0	0	0	1	0	0	0	1167	1821	63	5	2437	5	ATP6V0A2	12	124241431	Missense_Mutation	SNP	T	TCGA-HI-7171-01A-12D-2114-08	2807308	124241431	9610464	26	10259											
JPH4	84502	broad.mit.edu	37	chr14	24040359	24040359	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccgaggagtggggaaccGtctctgggccctggcccttg	4	8	15	14	2	1	0	0	0	1	0	3	3	2	2	5	5	1	0	5	5	1	1			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr14:24040359G>A	ENST00000397118.3	-	6	2483	c.1581C>T	c.(1579-1581)gaC>gaT	p.D527D	JPH4_ENST00000544177.1_Silent_p.D192D|JPH4_ENST00000356300.4_Silent_p.D527D	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	527					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		GTGGGGAACCGTCTCTGGGCC	0.667													72	173					0	0	1	0	0	A	24040359	G	A	24040359	2	1	218	1	0	0	0	0	0	0	0	1	8007	1136	40	1		1	JPH4	14	24040359	Silent	SNP	G	TCGA-HI-7171-01A-12D-2114-08		24040359	83309181	27	10260											
SAV1	60485	broad.mit.edu	37	chr14	51132328	51132328	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaccatgccggatgaatgaaGgcataagatctacaataaaa	18	7	9	7	1	1	3	0	2	1	1	1	5	1	4	2	2	2	1	2	2	7	3			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr14:51132328G>A	ENST00000324679.4	-	2	467	c.104C>T	c.(103-105)cCt>cTt	p.P35L		NM_021818.3	NP_068590.1	Q9H4B6	SAV1_HUMAN	salvador homolog 1 (Drosophila)	35					hippo signaling cascade	cytoplasm|nucleus	identical protein binding			breast(1)|kidney(2)|lung(2)|prostate(1)	6	all_epithelial(31;0.000611)|Breast(41;0.0333)					GATGAATGAAGGCATAAGATC	0.358													5	16					0	0	1	0	0	A	51132328	G	A	51132328	3	1	218	1	0	0	0	0	1	0	0	0	13909	1000	35	2	1063	2	SAV1	14	51132328	Missense_Mutation	SNP	G	TCGA-HI-7171-01A-12D-2114-08	27091969	51132328	56217212	28	10261											
KIAA1024	23251	broad.mit.edu	37	chr15	79748639	79748639	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccaaactgagaagtgtgctCttctacacagcttgtctcga	10	11	9	11	1	3	1	0	1	3	1	4	3	3	1	1	0	4	2	1	0	3	3			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr15:79748639C>G	ENST00000305428.3	+	2	225	c.150C>G	c.(148-150)ctC>ctG	p.L50L		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	50						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						GAAGTGTGCTCTTCTACACAG	0.458													49	60					0	0	1	0	0	G	79748639	C	G	79748639	2	3	218	1	0	0	0	0	0	0	0	1	8247	900	32	4		4	KIAA1024	15	79748639	Silent	SNP	C	TCGA-HI-7171-01A-12D-2114-08		79748639	22782753	29	10262											
CHD2	1106	broad.mit.edu	37	chr15	93467763	93467763	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccagcctctaagaaggaacGgatagctgatgtgaagaagg	14	6	14	7	1	1	4	0	2	1	2	1	6	1	6	2	3	3	1	2	3	6	2			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr15:93467763G>A	ENST00000394196.4	+	3	1343	c.275G>A	c.(274-276)cGg>cAg	p.R92Q	CHD2_ENST00000536619.1_Missense_Mutation_p.R105Q|CHD2_ENST00000420239.2_Missense_Mutation_p.R92Q|CHD2_ENST00000557381.1_Missense_Mutation_p.R92Q	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	92					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AAGAAGGAACGGATAGCTGAT	0.478													3	74					0	0	1	0	0	A	93467763	G	A	93467763	3	1	218	1	0	0	0	0	1	0	0	0	3347	1116	39	1	281	1	CHD2	15	93467763	Missense_Mutation	SNP	G	TCGA-HI-7171-01A-12D-2114-08	13719124	93467763	9063629	30	10263											
DYNC1LI2	1783	broad.mit.edu	37	chr16	66770148	66770148	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcttgaaaatctttcacaaCtgggggaaaaagaggaaaaa	18	8	10	5	0	3	2	1	1	2	1	3	4	3	4	0	3	1	0	0	3	7	2			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr16:66770148C>T	ENST00000258198.2	-	5	736		c.e5-1		DYNC1LI2_ENST00000443351.2_Splice_Site|DYNC1LI2_ENST00000440564.2_Splice_Site|DYNC1LI2_ENST00000379482.2_Splice_Site	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN	dynein, cytoplasmic 1, light intermediate chain 2						transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity			central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		TCTTTCACAACTGGGGGAAAA	0.393													17	4					0	0	1	0	0	T	66770148	C	T	66770148	5	4	218	1	0	0	0	0	0	0	1	0	4871	579	20	2	985	2	DYNC1LI2	16	66770148	Splice_Site	SNP	C	TCGA-HI-7171-01A-12D-2114-08		66770148	23584605	31	10264											
OR3A2	4995	broad.mit.edu	37	chr17	3181633	3181633	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctcattgagttgggtgctGgagcaggagagctggaagag	10	8	18	5	0	1	3	1	1	0	2	1	6	1	5	0	4	4	5	0	4	1	2			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr17:3181633G>A	ENST00000408891.2	-	1	635	c.597C>T	c.(595-597)tcC>tcT	p.S199S		NM_002551.3	NP_002542.3	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A, member 2	199					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			ovary(1)	1						GTTGGGTGCTGGAGCAGGAGA	0.552													21	68					0	0	1	0	0	A	3181633	G	A	3181633	2	1	218	1	0	0	0	0	0	0	0	1	11086	1335	47	2		2	OR3A2	17	3181633	Silent	SNP	G	TCGA-HI-7171-01A-12D-2114-08		3181633	78013577	32	10265											
TP53	7157	broad.mit.edu	37	chr17	7577566	7577566	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccgcccatgcaggaactgtTacacatgtagttgtagtgga	10	10	12	9	1	0	0	0	0	0	0	0	2	0	2	2	2	3	5	2	2	4	4			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr17:7577566T>C	ENST00000420246.2	-	7	847	c.715A>G	c.(715-717)Aac>Gac	p.N239D	TP53_ENST00000455263.2_Missense_Mutation_p.N239D|TP53_ENST00000413465.2_Missense_Mutation_p.N239D|TP53_ENST00000269305.4_Missense_Mutation_p.N239D|TP53_ENST00000445888.2_Missense_Mutation_p.N239D|TP53_ENST00000359597.4_Missense_Mutation_p.N239D	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	239	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		N -> D (in sporadic cancers; somatic mutation).|N -> H (in a sporadic cancer; somatic mutation).|N -> I (in a sporadic cancer; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in sporadic cancers; somatic mutation).|N -> Y (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.N239D(33)|p.N239fs*25(12)|p.0?(8)|p.N239Y(6)|p.N239fs*1(5)|p.?(5)|p.M237_N239delMCN(4)|p.N239_C242delNSSC(3)|p.N239fs*8(2)|p.N239_S240delNS(2)|p.N239fs*26(1)|p.N146D(1)|p.N146fs*1(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.N239fs*6(1)|p.N239fs*4(1)|p.C238_N239insX(1)|p.C238_M246delCNSSCMGGM(1)|p.M144_N146delMCN(1)|p.C238fs*21(1)|p.H233fs*6(1)|p.N239*(1)|p.H233_C242del10(1)|p.N239_C242del(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)		CAGGAACTGTTACACATGTAG	0.572		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)			37	43					0	0	1	0	0	C	7577566	T	C	7577566	3	2	218	1	0	0	0	0	1	0	0	0	16442	1754	61	3	575	3	TP53	17	7577566	Missense_Mutation	SNP	T	TCGA-HI-7171-01A-12D-2114-08	4395933	7577566	73617644	33	10266											
KCNJ12	3768	broad.mit.edu	37	chr17	21319343	21319343	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggaggcccatgtgcgcgCgcagctcatcaagccgcggg	6	6	16	13	5	2	0	2	0	0	0	2	1	2	1	2	3	3	2	2	3	1	0			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr17:21319343C>T	ENST00000583088.1	+	3	1584	c.689C>T	c.(688-690)gCg>gTg	p.A230V	KCNJ12_ENST00000331718.5_Missense_Mutation_p.A230V	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		CATGTGCGCGCGCAGCTCATC	0.637										Prostate(3;0.18)			4	64					0	0	1	0	0	T	21319343	C	T	21319343	3	4	218	1	0	0	0	0	1	0	0	0	8090	768	27	1	691	1	KCNJ12	17	21319343	Missense_Mutation	SNP	C	TCGA-HI-7171-01A-12D-2114-08	13741777	21319343	59875867	34	10267											
C17orf78	284099	broad.mit.edu	37	chr17	35745662	35745662	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tattgtggtcaaaattctgaTtgctgtcaccctgttgctca	8	16	8	9	0	4	1	3	1	1	0	4	1	4	1	1	1	2	3	1	1	3	5			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr17:35745662T>A	ENST00000300618.4	+	5	616	c.566T>A	c.(565-567)aTt>aAt	p.I189N	ACACA_ENST00000353139.5_Intron|ACACA_ENST00000416895.1_Intron|ACACA_ENST00000589665.1_Intron|C17orf78_ENST00000586700.1_Intron	NM_173625.3	NP_775896.3	Q8N4C9	CQ078_HUMAN	chromosome 17 open reading frame 78	189						integral to membrane				NS(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(1)	6		Breast(25;0.00295)|Ovarian(249;0.15)				AAAATTCTGATTGCTGTCACC	0.398													13	12					0	0	1	0	0	A	35745662	T	A	35745662	3	1	218	1	0	0	0	0	1	0	0	0	1893	1493	52	5	584	5	C17orf78	17	35745662	Missense_Mutation	SNP	T	TCGA-HI-7171-01A-12D-2114-08	14426319	35745662	45449548	35	10268											
CDH2	1000	broad.mit.edu	37	chr18	25572675	25572675	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcggtctggatggcgaaccGtccagtaggatctccgccac	7	8	13	13	4	2	0	0	0	2	0	5	3	3	2	4	4	1	1	4	4	2	1			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr18:25572675G>A	ENST00000269141.3	-	9	1711	c.1288C>T	c.(1288-1290)Cgg>Tgg	p.R430W	CDH2_ENST00000399380.3_Missense_Mutation_p.R399W	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	430	Cadherin 3.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						ATGGCGAACCGTCCAGTAGGA	0.527													49	66					0	0	1	0	0	A	25572675	G	A	25572675	3	1	218	1	0	0	0	0	1	0	0	0	3127	1144	40	1	1464	1	CDH2	18	25572675	Missense_Mutation	SNP	G	TCGA-HI-7171-01A-12D-2114-08		25572675	52504573	36	10269											
CDH2	1000	broad.mit.edu	37	chr18	25583091	25583091	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acatcccattgagggcattgGgatcgtcagcatcaattgct	10	11	10	10	1	2	1	2	1	0	0	4	2	3	2	1	2	2	3	1	2	1	3			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr18:25583091G>T	ENST00000269141.3	-	7	1313	c.890C>A	c.(889-891)cCc>cAc	p.P297H	CDH2_ENST00000399380.3_Missense_Mutation_p.P266H	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	297	Cadherin 2.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GAGGGCATTGGGATCGTCAGC	0.458													4	84					1	1	1	1	0	T	25583091	G	T	25583091	3	4	218	1	0	0	0	0	1	0	0	0	3127	1232	43	4	1870	4	CDH2	18	25583091	Missense_Mutation	SNP	G	TCGA-HI-7171-01A-12D-2114-08	10416	25583091	52494157	37	10270											
SHC2	25759	broad.mit.edu	37	chr19	438989	438989	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttttcttccaggatcccCggacgccaggcacggcctca	6	9	9	17	3	2	0	1	0	1	0	4	2	4	2	6	4	0	1	6	4	0	3			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr19:438989C>T	ENST00000264554.6	-	3	580	c.581G>A	c.(580-582)cGg>cAg	p.R194Q		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	194	PID.				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGGATCCCCGGACGCCAGG	0.677													9	12					0	0	1	0	0	T	438989	C	T	438989	3	4	218	1	0	0	0	0	1	0	0	0	14326	652	23	1	1207	1	SHC2	19	438989	Missense_Mutation	SNP	C	TCGA-HI-7171-01A-12D-2114-08		438989	58689994	38	10271											
RAB3D	9545	broad.mit.edu	37	chr19	11447929	11447929	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccacagtactgacgaaggcGggagtgaaggagtcgtccgc	10	5	15	11	4	0	2	0	2	0	0	2	5	1	4	2	3	1	1	2	3	3	1	rs151261006		TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr19:11447929G>A	ENST00000222120.3	-	2	407	c.147C>T	c.(145-147)ccC>ccT	p.P49P	RAB3D_ENST00000589655.1_Silent_p.P49P	NM_004283.3	NP_004274.1	O95716	RAB3D_HUMAN	RAB3D, member RAS oncogene family	49					exocytosis|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						TGACGAAGGCGGGAGTGAAGG	0.527													22	294					0	0	1	0	0	A	11447929	G	A	11447929	2	1	218	1	0	0	0	0	0	0	0	1	12986	1103	39	1		1	RAB3D	19	11447929	Silent	SNP	G	TCGA-HI-7171-01A-12D-2114-08	11008940	11447929	47681054	39	10272											
PRKACA	5566	broad.mit.edu	37	chr19	14204548	14204548	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcttggtgagatctacctgCaggaggttccgcagcaggtc	7	9	14	11	2	1	1	0	1	1	1	3	3	2	2	2	4	3	5	2	4	1	3			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr19:14204548C>A	ENST00000308677.4	-	9	1018	c.822G>T	c.(820-822)ctG>ctT	p.L274L	PRKACA_ENST00000350356.3_5'UTR|PRKACA_ENST00000589994.1_Silent_p.L266L|PRKACA_ENST00000590853.1_Intron	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha	274	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						GATCTACCTGCAGGAGGTTCC	0.542													3	66					0.115264	0.119308	1	1	0	A	14204548	C	A	14204548	2	1	218	1	0	0	0	0	0	0	0	1	12549	697	25	4		4	PRKACA	19	14204548	Silent	SNP	C	TCGA-HI-7171-01A-12D-2114-08	2756619	14204548	44924435	40	10273											
IRF3	3661	broad.mit.edu	37	chr19	50162974	50162974	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtaggccttgtactggtcGgaggtgagggagagtgggtg	7	9	21	4	1	0	2	0	1	0	1	1	4	0	3	1	7	1	2	1	7	2	3	rs149842990	byFrequency	TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr19:50162974G>A	ENST00000600911.1	-	6	1491	c.1099C>T	c.(1099-1101)Cga>Tga	p.R367*	IRF3_ENST00000597198.1_Silent_p.S405S|IRF3_ENST00000598808.1_Silent_p.S259S|IRF3_ENST00000601291.1_Nonsense_Mutation_p.R411*|IRF3_ENST00000599144.1_Silent_p.S259S|IRF3_ENST00000599223.1_Silent_p.S278S|IRF3_ENST00000599680.1_5'UTR|IRF3_ENST00000593922.1_Silent_p.S259S|IRF3_ENST00000596765.1_Silent_p.S132S|IRF3_ENST00000600022.1_Silent_p.S132S|IRF3_ENST00000309877.7_Silent_p.S405S|IRF3_ENST00000377135.4_Silent_p.S278S|IRF3_ENST00000596822.1_Nonsense_Mutation_p.R94*|IRF3_ENST00000377139.3_Silent_p.S405S			Q14653	IRF3_HUMAN	interferon regulatory factor 3	0					interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		TGTACTGGTCGGAGGTGAGGG	0.617													34	50					0	0	1	0	0	A	50162974	G	A	50162974	4	1	218	1	0	0	0	0	0	1	0	0	7875	1103	39	1	72	1	IRF3	19	50162974	Nonsense_Mutation	SNP	G	TCGA-HI-7171-01A-12D-2114-08	35958426	50162974	8966009	41	10274											
DLGAP4	22839	broad.mit.edu	37	chr20	35064517	35064519	+	In_Frame_Del	DEL	CGG	CGG	-																															gtgccccatccccaggtgccCggcggcggcggcgagtggag																										TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr20:35064517_35064519delCGG	ENST00000373913.3	+	4	1485_1487	c.1005_1007delCGG	c.(1003-1008)ccc>cc	p.PG335del	DLGAP4_ENST00000401952.2_In_Frame_Del_p.PG335del|DLGAP4_ENST00000339266.5_In_Frame_Del_p.PG335del|DLGAP4_ENST00000373907.2_In_Frame_Del_p.PG335del			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	335					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CCCAGGTGCCCGGCGGCGGCGGC	0.704													3	6	---	---	---	---						-	35064519	CGG	-	35064517	7	5	218	1	0	1	0	1	0	0	0	0	4590	639	23	0	1011	0	DLGAP4	20	35064517	In_Frame_Del	DEL	CGG	TCGA-HI-7171-01A-12D-2114-08		35064517	27961003	42	10275											
NCOA3	8202	broad.mit.edu	37	chr20	46279833	46279833	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgcagcagcagcagcagcaGcaacagcagcagcagcagca	15	1	12	13	0	0	0	0	0	0	0	0	0	0	0	0	0	13	12	0	0	1	0			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr20:46279833G>A	ENST00000372004.3	+	20	3963	c.3747G>A	c.(3745-3747)caG>caA	p.Q1249Q	NCOA3_ENST00000371997.3_Silent_p.Q1244Q|NCOA3_ENST00000341724.6_Silent_p.Q1179Q|NCOA3_ENST00000371998.3_Silent_p.Q1253Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1253	Acetyltransferase.|Poly-Gln.		Missing.		androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcaacagcagc	0.547													3	42					0	0	1	0	0	A	46279833	G	A	46279833	2	1	218	1	0	0	0	0	0	0	0	1	10277	962	34	2		2	NCOA3	20	46279833	Silent	SNP	G	TCGA-HI-7171-01A-12D-2114-08	11215316	46279833	16745687	43	10276											
RAC2	5880	broad.mit.edu	37	chr22	37622732	37622732	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctagaggaggctgcaggcgCgcttctgctgccgcgtgggc	4	7	17	13	4	1	1	0	0	1	1	1	2	1	2	2	4	3	4	2	4	1	2			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr22:37622732C>T	ENST00000249071.6	-	6	681	c.560G>A	c.(559-561)cGc>cAc	p.R187H	RAC2_ENST00000406508.1_Missense_Mutation_p.R143H|RAC2_ENST00000405484.1_Missense_Mutation_p.R180H	NM_002872.3	NP_002863.1	P15153	RAC2_HUMAN	ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)	187					axon guidance|platelet activation|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|protein binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	12						GCTGCAGGCGCGCTTCTGCTG	0.632													7	15					0	0	1	0	0	T	37622732	C	T	37622732	3	4	218	1	0	0	0	0	1	0	0	0	13027	768	27	1	22	1	RAC2	22	37622732	Missense_Mutation	SNP	C	TCGA-HI-7171-01A-12D-2114-08		37622732	13681834	44	10277											
HTR2C	3358	broad.mit.edu	37	chrX	114082718	114082718	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatagccgtttcaattcgCggactaaggccatcatgaag	12	9	10	10	3	2	1	2	1	0	0	3	2	2	2	2	2	2	2	2	2	4	4			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chrX:114082718C>T	ENST00000276198.1	+	5	1230	c.502C>T	c.(502-504)Cgg>Tgg	p.R168W	HTR2C_ENST00000371950.3_Intron|HTR2C_ENST00000371951.1_Missense_Mutation_p.R168W	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	168					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	TTTCAATTCGCGGACTAAGGC	0.403													39	12					0	0	1	0	0	T	114082718	C	T	114082718	3	4	218	1	0	0	0	0	1	0	0	0	7487	759	27	1	512	1	HTR2C	23	114082718	Missense_Mutation	SNP	C	TCGA-HI-7171-01A-12D-2114-08		114082718	41187842	45	10278											
NSDHL	50814	broad.mit.edu	37	chrX	152037459	152037459	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tactacctggccctcctgctAtccctgctggtgatggtgat	5	13	10	13	0	0	2	0	2	0	0	2	2	2	2	4	3	4	2	4	3	3	3			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chrX:152037459A>G	ENST00000370274.3	+	8	1115	c.921A>G	c.(919-921)ctA>ctG	p.L307L	NSDHL_ENST00000440023.1_Silent_p.L307L	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	307					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	CCCTCCTGCTATCCCTGCTGG	0.582													38	5					0	0	1	0	0	G	152037459	A	G	152037459	2	3	218	1	0	0	0	0	0	0	0	1	10718	436	16	3		3	NSDHL	23	152037459	Silent	SNP	A	TCGA-HI-7171-01A-12D-2114-08	37954741	152037459	3233101	46	10279											
CASZ1	54897	broad.mit.edu	37	chr1	10699168	10699170	+	In_Frame_Del	DEL	TCG	TCG	-																															cgtcgtcctcgtcgtcgtccTcgtcgtcgtcgtcctcgtcg																										TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr1:10699168_10699170delTCG	ENST00000377022.3	-	21	5426_5428	c.5109_5111delCGA	c.(5107-5112)gag>ga	p.DE1703del		NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1703	Asp-rich.|Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		gtcgtcgtcctcgtcgtcgtcgt	0.734													2	4	---	---	---	---						-	10699170	TCG	-	10699168	7	5	219	1	0	1	0	1	0	0	0	0	2703	1551	54	0	172	0	CASZ1	1	10699168	In_Frame_Del	DEL	TCG	TCGA-J4-8198-01A-11D-2260-08		10699168	238551453	1	10280											
HSPG2	3339	broad.mit.edu	37	chr1	22174288	22174288	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtctgcccttccaccaccGtgggggaagacgactcgatc	8	7	12	14	3	1	1	0	0	1	1	4	4	2	2	4	3	1	0	4	3	1	1			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr1:22174288G>A	ENST00000374695.3	-	61	7998	c.7919C>T	c.(7918-7920)aCg>aTg	p.T2640M	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2640	Ig-like C2-type 12.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	TTCCACCACCGTGGGGGAAGA	0.627													3	34					0	0	1	0	0	A	22174288	G	A	22174288	3	1	219	1	0	0	0	0	1	0	0	0	7474	1145	40	1	5404	1	HSPG2	1	22174288	Missense_Mutation	SNP	G	TCGA-J4-8198-01A-11D-2260-08	11475120	22174288	227076333	2	10281											
DENND4B	9909	broad.mit.edu	37	chr1	153907309	153907309	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgttgCtgctgctgctgctgttgccg	0	15	14	12	1	0	0	0	0	0	0	0	0	0	0	1	0	11	12	1	0	0	2			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr1:153907309C>T	ENST00000361217.4	-	18	3118	c.2700G>A	c.(2698-2700)caG>caA	p.Q900Q		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	900	Gln-rich.							p.Q788Q(1)|p.Q900Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			gctgctgttgctgctgctgct	0.642													3	67					0	0	1	0	0	T	153907309	C	T	153907309	2	4	219	1	0	0	0	0	0	0	0	1	4462	796	28	2		2	DENND4B	1	153907309	Silent	SNP	C	TCGA-J4-8198-01A-11D-2260-08	131733021	153907309	95343312	3	10282											
KIAA1614	57710	broad.mit.edu	37	chr1	180907822	180907822	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctgcagaggacagggtcaGgatctggaggacatgtgctg	9	7	17	8	0	2	1	1	0	1	1	2	5	2	5	1	5	2	2	1	5	0	0			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr1:180907822G>A	ENST00000367588.4	+	6	2948	c.2893G>A	c.(2893-2895)Gga>Aga	p.G965R	KIAA1614_ENST00000367587.1_Missense_Mutation_p.G586R	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	965	Ser-rich.									NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GACAGGGTCAGGATCTGGAGG	0.582													3	49					0	0	1	0	0	A	180907822	G	A	180907822	3	1	219	1	0	0	0	0	1	0	0	0	8290	1001	35	2	2915	2	KIAA1614	1	180907822	Missense_Mutation	SNP	G	TCGA-J4-8198-01A-11D-2260-08	27000513	180907822	68342799	4	10283											
IARS2	55699	broad.mit.edu	37	chr1	220273972	220273972	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaagctcagaatctttcagcTatggaaattagaaagaaagg	17	9	10	5	0	3	3	2	0	1	3	3	5	3	4	0	2	2	2	0	2	7	3			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr1:220273972T>C	ENST00000366922.1	+	3	646	c.315T>C	c.(313-315)gcT>gcC	p.A105A	IARS2_ENST00000302637.5_Silent_p.A177A			Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	177					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	ATCTTTCAGCTATGGAAATTA	0.348													19	28					0	0	1	0	0	C	220273972	T	C	220273972	2	2	219	1	0	0	0	0	0	0	0	1	7518	1509	53	3		3	IARS2	1	220273972	Silent	SNP	T	TCGA-J4-8198-01A-11D-2260-08	39366150	220273972	28976649	5	10284											
FMN2	56776	broad.mit.edu	37	chr1	240371422	240371422	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccctccgccccctctacccGgagtgggcatacctcctccg	4	7	8	22	3	1	0	0	0	1	0	4	1	4	1	9	2	2	1	9	2	2	2			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr1:240371422G>A	ENST00000319653.9	+	5	3540	c.3310G>A	c.(3310-3312)Gga>Aga	p.G1104R		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1104	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCTCTACCCGGAGTGGGCAT	0.736													42	159					0	0	1	0	0	A	240371422	G	A	240371422	3	1	219	1	0	0	0	0	1	0	0	0	5983	1117	39	1	3328	1	FMN2	1	240371422	Missense_Mutation	SNP	G	TCGA-J4-8198-01A-11D-2260-08	20097450	240371422	8879199	6	10285											
SLC3A1	6519	broad.mit.edu	37	chr2	44547502	44547502	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ggcatcgacagaatctttatCgtggttctgaattttggaga	10	14	11	6	2	2	3	0	1	2	2	4	5	2	3	0	3	0	2	0	3	3	5			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr2:44547502C>G	ENST00000260649.6	+	10	1858	c.1782C>G	c.(1780-1782)atC>atG	p.I594M	PREPL_ENST00000409936.1_3'UTR|SLC3A1_ENST00000409740.3_Missense_Mutation_p.I225M|PREPL_ENST00000409957.1_3'UTR|PREPL_ENST00000541738.1_3'UTR|PREPL_ENST00000409411.1_3'UTR|SLC3A1_ENST00000409380.1_Missense_Mutation_p.I316M	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	594					carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	GAATCTTTATCGTGGTTCTGA	0.423													18	67					0	0	1	0	0	G	44547502	C	G	44547502	3	3	219	1	0	0	0	0	1	0	0	0	14681	874	31	4	1820	4	SLC3A1	2	44547502	Missense_Mutation	SNP	C	TCGA-J4-8198-01A-11D-2260-08		44547502	198651871	7	10286											
CNTNAP5	129684	broad.mit.edu	37	chr2	125547651	125547651	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacaacgggggcaagtgtgtGgagaagcacaatggctacct	12	6	14	9	1	0	1	0	0	0	1	0	2	0	1	1	4	3	3	1	4	5	1			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr2:125547651G>A	ENST00000431078.1	+	18	3286	c.2922G>A	c.(2920-2922)gtG>gtA	p.V974V		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	974	EGF-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GCAAGTGTGTGGAGAAGCACA	0.557													16	22					0	0	1	0	0	A	125547651	G	A	125547651	2	1	219	1	0	0	0	0	0	0	0	1	3673	1335	47	2		2	CNTNAP5	2	125547651	Silent	SNP	G	TCGA-J4-8198-01A-11D-2260-08	81000149	125547651	117651722	8	10287											
RIF1	55183	broad.mit.edu	37	chr2	152322042	152322042	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggggaactagatggaggaaAtgatgtatctgatctacact	13	11	12	5	0	2	3	0	2	2	1	2	6	2	6	0	4	2	1	0	4	5	3			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr2:152322042A>C	ENST00000243326.4	+	29	6491	c.6008A>C	c.(6007-6009)aAt>aCt	p.N2003T	RIF1_ENST00000453091.2_Missense_Mutation_p.N2003T|RIF1_ENST00000428287.2_Missense_Mutation_p.N2003T|RIF1_ENST00000430328.2_Missense_Mutation_p.N2003T|RIF1_ENST00000444746.2_Missense_Mutation_p.N2003T			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	2003	Interaction with condensed chromosomes in telophase.				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		GATGGAGGAAATGATGTATCT	0.368													8	15					0	0	1	0	0	C	152322042	A	C	152322042	3	2	219	1	0	0	0	0	1	0	0	0	13409	101	4	5	6122	5	RIF1	2	152322042	Missense_Mutation	SNP	A	TCGA-J4-8198-01A-11D-2260-08	26774391	152322042	90877331	9	10288											
CLASP2	23122	broad.mit.edu	37	chr3	33686339	33686339	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggaaccttgaaggctgAtgcagctgatgatggcctat	10	10	13	8	0	0	4	0	4	0	0	0	5	0	5	2	3	4	4	2	3	3	2			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr3:33686339A>G	ENST00000399362.4	-	8	1125	c.772T>C	c.(772-774)Tca>Cca	p.S258P	CLASP2_ENST00000313350.6_Missense_Mutation_p.S31P|CLASP2_ENST00000359576.5_Missense_Mutation_p.S258P|CLASP2_ENST00000468888.2_Missense_Mutation_p.S258P|CLASP2_ENST00000333778.6_Missense_Mutation_p.S35P|CLASP2_ENST00000461133.3_Missense_Mutation_p.S25P|CLASP2_ENST00000487200.1_Missense_Mutation_p.S31P|CLASP2_ENST00000539981.1_Missense_Mutation_p.S31P|CLASP2_ENST00000482896.1_5'UTR|CLASP2_ENST00000307312.7_5'UTR|CLASP2_ENST00000480013.1_Missense_Mutation_p.S25P	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN	cytoplasmic linker associated protein 2	258										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						TTGAAGGCTGATGCAGCTGAT	0.438													2	10					0	0	1	0	0	G	33686339	A	G	33686339	3	3	219	1	0	0	0	0	1	0	0	0	3478	333	12	3	3872	3	CLASP2	3	33686339	Missense_Mutation	SNP	A	TCGA-J4-8198-01A-11D-2260-08		33686339	164336091	10	10289											
HELQ	113510	broad.mit.edu	37	chr4	84375053	84375060	+	Frame_Shift_Del	DEL	TAAAGCTA	TAAAGCTA	-																															agctataaaggagttttcagTaaagctatcatagtcaccaa																										TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr4:84375053_84375060delTAAAGCTA	ENST00000295488.3	-	2	498_505	c.336_343delTAGCTTTA	c.(334-345)gactfs	p.DSFT112fs	HELQ_ENST00000510985.1_Frame_Shift_Del_p.DSFT112fs|HELQ_ENST00000440639.2_5'UTR	NM_133636.2	NP_598375.2	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	112							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						GAGTTTTCAGTAAAGCTATCATAGTCAC	0.375								Other identified genes with known or suspected DNA repair function					27	135	---	---	---	---						-	84375060	TAAAGCTA	-	84375053	7	5	219	1	0	1	0	1	0	0	0	0	7088	1638	57	0	3030	0	HELQ	4	84375053	Frame_Shift_Del	DEL	TAAAGCTA	TCGA-J4-8198-01A-11D-2260-08		84375053	106779223	11	10290											
DDX60L	91351	broad.mit.edu	37	chr4	169325133	169325133	+	Splice_Site	DEL	A	A	-																															attaagtttcagttacttacAaaaaaaatattgcaggcaac																										TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr4:169325133delA	ENST00000511577.1	-	25	3585	c.3338_splice	c.e25+1	p.L1113_splice	DDX60L_ENST00000505890.1_Splice_Site_p.L1113_splice|DDX60L_ENST00000260184.7_Splice_Site_p.L1113_splice			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1113							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		AGTTACTTACAAAAAAAATAT	0.274													3	3	---	---	---	---						-	169325133	A	-	169325133	8	5	219	1	0	1	0	1	0	0	1	0	4402	144	5	0	1838	0	DDX60L	4	169325133	Splice_Site	DEL	A	TCGA-J4-8198-01A-11D-2260-08	84950080	169325133	21829143	12	10291											
C6	729	broad.mit.edu	37	chr5	41154017	41154017	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcctttggggcaagttagctCaatggattcaccaattctat	10	13	9	9	0	3	0	2	0	1	0	3	1	3	1	2	3	1	3	2	3	5	5			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr5:41154017C>T	ENST00000263413.3	-	15	2449	c.2185G>A	c.(2185-2187)Gag>Aag	p.E729K	C6_ENST00000337836.5_Missense_Mutation_p.E729K	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	729	C5b-binding domain.|Sushi 2.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CAAGTTAGCTCAATGGATTCA	0.478													17	48					0	0	1	0	0	T	41154017	C	T	41154017	3	4	219	1	0	0	0	0	1	0	0	0	2329	835	29	2	635	2	C6	5	41154017	Missense_Mutation	SNP	C	TCGA-J4-8198-01A-11D-2260-08		41154017	139761243	13	10292											
LRFN2	57497	broad.mit.edu	37	chr6	40360553	40360553	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttggtggccgtgagtgtcGtggctgtgtcatcccacatg	4	13	15	9	2	1	1	1	1	0	0	3	1	2	1	2	3	0	2	2	3	0	1			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr6:40360553G>A	ENST00000338305.6	-	3	2041	c.1499C>T	c.(1498-1500)aCg>aTg	p.T500M		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	500	Fibronectin type-III.					cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CGTGAGTGTCGTGGCTGTGTC	0.602													11	25					0	0	1	0	0	A	40360553	G	A	40360553	3	1	219	1	0	0	0	0	1	0	0	0	8983	1145	40	1	874	1	LRFN2	6	40360553	Missense_Mutation	SNP	G	TCGA-J4-8198-01A-11D-2260-08		40360553	130754514	14	10293											
LAMA4	3910	broad.mit.edu	37	chr6	112480078	112480078	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttctgcataaatccctgacGcattctaaagaaaaaaattt	16	13	4	8	1	2	2	0	1	2	1	3	2	3	2	1	0	1	2	1	0	7	5	rs137893207		TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr6:112480078G>A	ENST00000230538.7	-	14	2070	c.1673C>T	c.(1672-1674)gCg>gTg	p.A558V	LAMA4_ENST00000389463.4_Missense_Mutation_p.A551V|LAMA4_ENST00000424408.2_Missense_Mutation_p.A551V|LAMA4_ENST00000522006.1_Missense_Mutation_p.A551V|RP1-142L7.5_ENST00000585373.1_RNA	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	558	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	p.A551V(2)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		AATCCCTGACGCATTCTAAAG	0.303													6	21					0	0	1	0	0	A	112480078	G	A	112480078	3	1	219	1	0	0	0	0	1	0	0	0	8647	1087	38	1	3902	1	LAMA4	6	112480078	Missense_Mutation	SNP	G	TCGA-J4-8198-01A-11D-2260-08	72119525	112480078	58634989	15	10294											
PAXIP1	22976	broad.mit.edu	37	chr7	154782739	154782740	+	Frame_Shift_Ins	INS	-	-	A																															gaaaggcaggcagtgattccINSaaaaaaaatctgacatgatt																										TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr7:154782739_154782740insA	ENST00000404141.1	-	4	454_455	c.300_301insT	c.(298-303)ttgaatfs	p.LN100fs	PAXIP1_ENST00000397192.1_Frame_Shift_Ins_p.LN100fs|PAXIP1_ENST00000473219.1_5'UTR			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	100	BRCT 2.|Interaction with PA1 (By similarity).				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		GCAGTGATTCCAAAAAAAATCT	0.332													3	6	---	---	---	---						A	154782740	-	A	154782739	7	5	219	1	0	1	1	0	0	0	0	0	11534	603	21	0	2980	0	PAXIP1	7	154782739	Frame_Shift_Ins	INS	-	TCGA-J4-8198-01A-11D-2260-08		154782739	4355924	16	10295											
SH2D4A	63898	broad.mit.edu	37	chr8	19218826	19218826	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcggaatggcaggcatctcGtgagtacccagaggtctcca	9	8	12	12	2	2	2	0	1	2	1	5	3	2	3	2	4	1	3	2	4	2	1	rs145746072	byFrequency	TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr8:19218826G>A	ENST00000265807.3	+	6	1117		c.e6+1		SH2D4A_ENST00000519207.1_Splice_Site|SH2D4A_ENST00000518040.1_Splice_Site	NM_001174160.1|NM_022071.3	NP_001167631.1|NP_071354.2	Q9H788	SH24A_HUMAN	SH2 domain containing 4A							cytoplasm|nucleus	protein binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16				Colorectal(111;0.0732)		CAGGCATCTCGTGAGTACCCA	0.418													4	11					0	0	1	0	0	A	19218826	G	A	19218826	5	1	219	1	0	0	0	0	0	0	1	0	14289	1159	40	1	775	1	SH2D4A	8	19218826	Splice_Site	SNP	G	TCGA-J4-8198-01A-11D-2260-08		19218826	127145196	17	10296											
GTF2E2	2961	broad.mit.edu	37	chr8	30437879	30437879	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attttctcctcgtccatggaAtctacagtgacactcctcca	9	13	5	14	1	2	1	0	1	2	0	7	2	5	2	4	1	1	0	4	1	2	3			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr8:30437879A>C	ENST00000355904.4	-	7	960	c.678T>G	c.(676-678)gaT>gaG	p.D226E		NM_002095.4	NP_002086.1	P29084	T2EB_HUMAN	general transcription factor IIE, polypeptide 2, beta 34kDa	226					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIE complex	DNA binding|protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)		CGTCCATGGAATCTACAGTGA	0.373													28	59					0	0	1	0	0	C	30437879	A	C	30437879	3	2	219	1	0	0	0	0	1	0	0	0	6898	98	4	5	205	5	GTF2E2	8	30437879	Missense_Mutation	SNP	A	TCGA-J4-8198-01A-11D-2260-08	11219053	30437879	115926143	18	10297											
MTDH	92140	broad.mit.edu	37	chr8	98657100	98657100	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaagaaccggaagaaactGtccgagaagcccaaagtgag	18	3	12	8	2	0	5	0	1	0	4	1	7	1	6	3	1	3	0	3	1	7	0			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr8:98657100G>A	ENST00000336273.3	+	1	694	c.366G>A	c.(364-366)ctG>ctA	p.L122L	MTDH_ENST00000519934.1_Silent_p.L99L	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	122	Interaction with BCCIP.|Interaction with RELA.				lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			GGAAGAAACTGTCCGAGAAGC	0.672													3	8					0	0	1	0	0	A	98657100	G	A	98657100	2	1	219	1	0	0	0	0	0	0	0	1	9965	1364	48	2		2	MTDH	8	98657100	Silent	SNP	G	TCGA-J4-8198-01A-11D-2260-08	68219221	98657100	47706922	19	10298											
PKD2L1	9033	broad.mit.edu	37	chr10	102052799	102052799	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaccctctccttcctcagacGcagtcttagtagggtcttgt	7	13	8	13	1	4	1	1	0	3	1	6	1	5	1	3	1	1	2	3	1	3	4	rs147248969		TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr10:102052799G>A	ENST00000318222.3	-	11	2168	c.1786C>T	c.(1786-1788)Cgt>Tgt	p.R596C	PKD2L1_ENST00000353274.3_Missense_Mutation_p.R596C|PKD2L1_ENST00000338519.3_Missense_Mutation_p.R521C	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	596					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		TTCCTCAGACGCAGTCTTAGT	0.547													16	54					0	0	1	0	0	A	102052799	G	A	102052799	3	1	219	1	0	0	0	0	1	0	0	0	12015	1087	38	1	655	1	PKD2L1	10	102052799	Missense_Mutation	SNP	G	TCGA-J4-8198-01A-11D-2260-08		102052799	33481948	20	10299											
RAG1	5896	broad.mit.edu	37	chr11	36597064	36597064	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactctttgtgatgccacccGtctggaagcctctcaaaatc	9	12	7	13	1	3	1	1	1	3	0	5	2	3	2	3	1	3	0	3	1	4	2	rs104894286		TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr11:36597064G>A	ENST00000299440.5	+	2	2322	c.2210G>A	c.(2209-2211)cGt>cAt	p.R737H		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	737			R -> H (in OS and CHIDG; reduced recombination activity when associated with T-507).		histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GATGCCACCCGTCTGGAAGCC	0.502									Familial Hemophagocytic Lymphohistiocytosis				15	31					0	0	1	0	0	A	36597064	G	A	36597064	3	1	219	1	0	0	0	0	1	0	0	0	13055	1145	40	1	2212	1	RAG1	11	36597064	Missense_Mutation	SNP	G	TCGA-J4-8198-01A-11D-2260-08		36597064	98409452	21	10300											
POLD3	10714	broad.mit.edu	37	chr11	74303721	74303721	+	Nonsense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accatggcggaccagctttaTctggaaaatatagacgagtt	13	10	10	8	2	1	1	0	0	1	1	1	4	1	3	2	3	1	2	2	3	5	5			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr11:74303721T>G	ENST00000263681.2	+	1	147	c.18T>G	c.(16-18)taT>taG	p.Y6*	POLD3_ENST00000527458.1_De_novo_Start_InFrame|POLD3_ENST00000532784.1_3'UTR|POLD3_ENST00000532497.1_De_novo_Start_OutOfFrame	NM_006591.2	NP_006582.1	Q15054	DPOD3_HUMAN	polymerase (DNA-directed), delta 3, accessory subunit	6					base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm	DNA-directed DNA polymerase activity|protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18	Breast(11;3.21e-06)					ACCAGCTTTATCTGGAAAATA	0.622													9	11					0	0	1	0	0	G	74303721	T	G	74303721	4	3	219	1	0	0	0	0	0	1	0	0	12240	1442	50	5	20	5	POLD3	11	74303721	Nonsense_Mutation	SNP	T	TCGA-J4-8198-01A-11D-2260-08	37706657	74303721	60702795	22	10301											
BIRC2	329	broad.mit.edu	37	chr11	102248361	102248361	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atattattaaacaaaaaacaCagatacctttacaagcgaga	21	9	4	7	1	0	2	0	0	0	2	0	3	0	2	1	0	5	0	1	0	10	6			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr11:102248361C>G	ENST00000227758.2	+	7	2900	c.1501C>G	c.(1501-1503)Cag>Gag	p.Q501E	BIRC2_ENST00000532672.1_Missense_Mutation_p.Q480E|BIRC2_ENST00000527910.1_3'UTR|BIRC2_ENST00000530675.1_Missense_Mutation_p.Q452E	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	Q13490	BIRC2_HUMAN	baculoviral IAP repeat containing 2	501	CARD.				cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	CD40 receptor complex|cytosol|internal side of plasma membrane	protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		ACAAAAAACACAGATACCTTT	0.333													12	19					0	0	1	0	0	G	102248361	C	G	102248361	3	3	219	1	0	0	0	0	1	0	0	0	1434	479	17	4	1523	4	BIRC2	11	102248361	Missense_Mutation	SNP	C	TCGA-J4-8198-01A-11D-2260-08	27944640	102248361	32758155	23	10302											
NAV3	89795	broad.mit.edu	37	chr12	78593154	78593155	+	Frame_Shift_Ins	INS	-	-	T																															atacagaaccagtgaaaggcINStttttaggcagatatcttcg																										TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr12:78593154_78593155insT	ENST00000397909.2	+	37	6731_6732	c.6558_6559insT	c.(6556-6561)ggttttfs	p.GF2186fs	NAV3_ENST00000266692.7_Frame_Shift_Ins_p.GF1987fs|NAV3_ENST00000228327.6_Frame_Shift_Ins_p.GF2164fs|NAV3_ENST00000536525.2_Frame_Shift_Ins_p.GF2164fs|NAV3_ENST00000541270.1_Frame_Shift_Ins_p.GF16fs			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2186						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CAGTGAAAGGCTTTTTAGGCAG	0.302										HNSCC(70;0.22)			8	92	---	---	---	---						T	78593155	-	T	78593154	7	5	219	1	0	1	1	0	0	0	0	0	10233	784	28	0	6634	0	NAV3	12	78593154	Frame_Shift_Ins	INS	-	TCGA-J4-8198-01A-11D-2260-08		78593154	55258741	24	10303											
BDKRB1	0	broad.mit.edu	37	chr14	96730362	96730362	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctctgccgtgtcatcaacGgggtcatcaaggccaatttg	8	11	10	12	2	5	0	4	0	1	0	6	0	6	0	3	3	2	0	3	3	3	1			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr14:96730362G>C	ENST00000216629.6	+	3	949	c.343G>C	c.(343-345)Ggg>Cgg	p.G115R	BDKRB1_ENST00000553356.1_Missense_Mutation_p.G115R|RP11-404P21.3_ENST00000553638.1_RNA	NM_000710.3	NP_000701.2	P46663	BKRB1_HUMAN	bradykinin receptor B1	115					elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		TGTCATCAACGGGGTCATCAA	0.572													24	90					0	0	1	0	0	C	96730362	G	C	96730362	3	2	219	1	0	0	0	0	1	0	0	0	1390	1116	39	4	345	4	BDKRB1	14	96730362	Missense_Mutation	SNP	G	TCGA-J4-8198-01A-11D-2260-08		96730362	10619178	25	10304											
ISLR	3671	broad.mit.edu	37	chr15	74467265	74467265	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcaggcctgccctgagccCtgcgactgtggggaaaagta	8	7	14	12	1	1	1	1	1	0	0	1	3	1	2	3	3	3	2	3	3	3	1			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr15:74467265C>T	ENST00000249842.3	+	2	423	c.66C>T	c.(64-66)ccC>ccT	p.P22P	ISLR_ENST00000395118.1_Silent_p.P22P|RP11-665J16.1_ENST00000561647.1_RNA	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	22	LRRNT.				cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						GCCCTGAGCCCTGCGACTGTG	0.627													13	34					0	0	1	0	0	T	74467265	C	T	74467265	2	4	219	1	0	0	0	0	0	0	0	1	7902	668	24	2		2	ISLR	15	74467265	Silent	SNP	C	TCGA-J4-8198-01A-11D-2260-08		74467265	28064127	26	10305											
TBC1D24	57465	broad.mit.edu	37	chr16	2550269	2550269	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acactccccttccaccccagCtgcagcctgaggtgcagcgc	7	6	9	19	1	0	1	0	1	0	0	2	1	2	1	6	1	5	3	6	1	0	1			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr16:2550269C>A	ENST00000567020.1	+	6	1425	c.1284_splice	c.e6-1	p.L429_splice	TBC1D24_ENST00000434757.2_Splice_Site_p.L435_splice|RP11-20I23.1_ENST00000564543.1_Intron|TBC1D24_ENST00000293970.5_Splice_Site_p.L435_splice	NM_020705.2	NP_065756.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	435	TLD.				neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						TCCACCCCAGCTGCAGCCTGA	0.672													5	17					1	1	1	1	0	A	2550269	C	A	2550269	5	1	219	1	0	0	0	0	0	0	1	0	15671	811	28	4	1303	4	TBC1D24	16	2550269	Splice_Site	SNP	C	TCGA-J4-8198-01A-11D-2260-08		2550269	87804484	27	10306											
MYO15A	51168	broad.mit.edu	37	chr17	18023607	18023607	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagctggaggtgcccctgcCaccctctctggacattcctc	6	9	10	16	0	1	0	0	0	1	0	4	3	2	2	5	3	3	1	5	3	1	1			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr17:18023607C>T	ENST00000205890.5	+	2	1831	c.1493C>T	c.(1492-1494)cCa>cTa	p.P498L		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	498	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GTGCCCCTGCCACCCTCTCTG	0.642													17	37					0	0	1	0	0	T	18023607	C	T	18023607	3	4	219	1	0	0	0	0	1	0	0	0	10111	594	21	2	1495	2	MYO15A	17	18023607	Missense_Mutation	SNP	C	TCGA-J4-8198-01A-11D-2260-08		18023607	63171603	28	10307											
EPN2	22905	broad.mit.edu	37	chr17	19237548	19237548	+	Frame_Shift_Del	DEL	C	C	-																															agcccaggccactggcacaaCcaaccctttccttctctagt																										TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr17:19237548delC	ENST00000314728.5	+	11	2391	c.1907delC	c.(1906-1908)acfs	p.T636fs	EPN2_ENST00000571254.1_Frame_Shift_Del_p.T572fs|EPN2_ENST00000347697.2_Frame_Shift_Del_p.T579fs|EPN2_ENST00000395626.1_Intron|EPN2_ENST00000575595.1_Frame_Shift_Del_p.T344fs|EPN2_ENST00000395620.2_Frame_Shift_Del_p.T579fs|EPN2_ENST00000395618.3_Frame_Shift_Del_p.T351fs	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	636	3 X 3 AA repeats of N-P-F.|6 X 3 AA repeats of [DE]-P-W.				endocytosis		lipid binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					ACTGGCACAACCAACCCTTTC	0.622													2	4	---	---	---	---						-	19237548	C	-	19237548	7	5	219	1	0	1	0	1	0	0	0	0	5214	507	18	0	1941	0	EPN2	17	19237548	Frame_Shift_Del	DEL	C	TCGA-J4-8198-01A-11D-2260-08	1213941	19237548	61957662	29	10308											
KRT25	147183	broad.mit.edu	37	chr17	38907252	38907252	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttccagggtttgaagagtgCgcttcatttcagtcagctca	8	14	10	9	1	4	2	4	1	0	1	5	2	5	2	1	1	2	3	1	1	1	4			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr17:38907252C>T	ENST00000312150.4	-	5	971	c.911G>A	c.(910-912)cGc>cAc	p.R304H		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	304	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				TTGAAGAGTGCGCTTCATTTC	0.473													11	100					0	0	1	0	0	T	38907252	C	T	38907252	3	4	219	1	0	0	0	0	1	0	0	0	8505	768	27	1	457	1	KRT25	17	38907252	Missense_Mutation	SNP	C	TCGA-J4-8198-01A-11D-2260-08	19669704	38907252	42287958	30	10309											
ABCC3	8714	broad.mit.edu	37	chr17	48745031	48745031	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgaagcaggtggagggCatcaggcagggtgagctcca	9	7	16	9	0	1	2	1	2	0	0	3	3	3	3	2	5	2	4	2	5	1	1			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr17:48745031C>A	ENST00000285238.8	+	12	1628	c.1548C>A	c.(1546-1548)ggC>ggA	p.G516G	ABCC3_ENST00000427699.1_Silent_p.G516G	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	516	ABC transmembrane type-1 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	AGGTGGAGGGCATCAGGCAGG	0.612													5	59					1	1	1	1	0	A	48745031	C	A	48745031	2	1	219	1	0	0	0	0	0	0	0	1	54	697	25	4		4	ABCC3	17	48745031	Silent	SNP	C	TCGA-J4-8198-01A-11D-2260-08	9837779	48745031	32450179	31	10310											
MED13	9969	broad.mit.edu	37	chr17	60060259	60060259	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacaagtctgaattttcataTttgactgaaccttgagcact	12	15	6	8	0	2	4	1	4	1	0	2	4	2	4	1	0	3	1	1	0	5	6			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr17:60060259T>A	ENST00000397786.2	-	16	3181	c.3105A>T	c.(3103-3105)aaA>aaT	p.K1035N		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1035					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AATTTTCATATTTGACTGAAC	0.507													17	37					0	0	1	0	0	A	60060259	T	A	60060259	3	1	219	1	0	0	0	0	1	0	0	0	9480	1490	52	5	3479	5	MED13	17	60060259	Missense_Mutation	SNP	T	TCGA-J4-8198-01A-11D-2260-08	11315228	60060259	21134951	32	10311											
EPB41L3	23136	broad.mit.edu	37	chr18	5416266	5416266	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctggacggctcataacctgGcagtttgcagtcattctcct	7	13	9	12	1	4	0	2	0	2	0	5	1	4	1	2	3	2	4	2	3	1	3			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr18:5416266G>T	ENST00000341928.2	-	13	1958	c.1618C>A	c.(1618-1620)Cca>Aca	p.P540T	EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.P540T|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000427684.2_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	540	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TCATAACCTGGCAGTTTGCAG	0.582													25	73					1.75199e-13	1.86878e-13	1	1	0	T	5416266	G	T	5416266	3	4	219	1	0	0	0	0	1	0	0	0	5182	1203	42	4	1685	4	EPB41L3	18	5416266	Missense_Mutation	SNP	G	TCGA-J4-8198-01A-11D-2260-08		5416266	72660982	33	10312											
ATP5A1	498	broad.mit.edu	37	chr18	43666432	43666432	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taattgcagggcggatacctTtgtagaacaattctgtttcc	10	14	9	8	1	1	1	0	0	1	1	2	2	2	2	2	2	3	3	2	2	5	7			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr18:43666432T>C	ENST00000593152.2	-	9	1594	c.1055A>G	c.(1054-1056)aAa>aGa	p.K352R	ATP5A1_ENST00000590665.1_Missense_Mutation_p.K380R|ATP5A1_ENST00000282050.2_Missense_Mutation_p.K402R|ATP5A1_ENST00000398752.6_Missense_Mutation_p.K402R	NM_001257335.1	NP_001244264.1	P25705	ATPA_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle	402					ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain	mitochondrial matrix|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						GCGGATACCTTTGTAGAACAA	0.408													10	20					0	0	1	0	0	C	43666432	T	C	43666432	3	2	219	1	0	0	0	0	1	0	0	0	1146	1841	64	3	472	3	ATP5A1	18	43666432	Missense_Mutation	SNP	T	TCGA-J4-8198-01A-11D-2260-08	38250166	43666432	34410816	34	10313											
ZNF433	163059	broad.mit.edu	37	chr19	12126896	12126896	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcatgtggaactatggaaTgctttcccacattcattaca	12	12	8	9	0	1	0	1	0	0	0	2	2	2	2	1	3	3	2	1	3	4	4			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr19:12126896T>C	ENST00000419886.2	-	5	972	c.681A>G	c.(679-681)gcA>gcG	p.A227A	CTD-2006C1.2_ENST00000406892.2_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000495324.1_RNA|ZNF433_ENST00000344980.6_Silent_p.A262A			Q8N7K0	ZN433_HUMAN	zinc finger protein 433	262					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						AACTATGGAATGCTTTCCCAC	0.418													20	46					0	0	1	0	0	C	12126896	T	C	12126896	2	2	219	1	0	0	0	0	0	0	0	1	17964	1451	51	3		3	ZNF433	19	12126896	Silent	SNP	T	TCGA-J4-8198-01A-11D-2260-08		12126896	47002087	35	10314											
C19orf44	84167	broad.mit.edu	37	chr19	16620545	16620545	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atctgaagcccccatggtgaAcacagtcagctcagcttatt	11	10	8	12	0	3	2	2	2	1	0	3	2	3	2	2	1	4	2	2	1	3	2			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr19:16620545A>G	ENST00000221671.3	+	5	1541	c.1385A>G	c.(1384-1386)aAc>aGc	p.N462S	C19orf44_ENST00000594035.1_Missense_Mutation_p.N462S|CTD-3222D19.2_ENST00000409035.1_Intron	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	462										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						CCCATGGTGAACACAGTCAGC	0.547													20	33					0	0	1	0	0	G	16620545	A	G	16620545	3	3	219	1	0	0	0	0	1	0	0	0	1939	43	2	3	1399	3	C19orf44	19	16620545	Missense_Mutation	SNP	A	TCGA-J4-8198-01A-11D-2260-08	4493649	16620545	42508438	36	10315											
RSPH6A	81492	broad.mit.edu	37	chr19	46303813	46303813	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtggtccagggtgccaggtGcatgatttctgtggtggaga	6	11	18	6	0	1	2	0	1	1	1	2	3	2	2	2	6	2	1	2	6	0	1			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr19:46303813G>A	ENST00000221538.3	-	5	1949	c.1807C>T	c.(1807-1809)Cac>Tac	p.H603Y	RSPH6A_ENST00000600188.1_Missense_Mutation_p.H339Y|RSPH6A_ENST00000597055.1_Missense_Mutation_p.H603Y	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	603	Glu-rich.					intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						GGTGCCAGGTGCATGATTTCT	0.667													12	36					0	0	1	0	0	A	46303813	G	A	46303813	3	1	219	1	0	0	0	0	1	0	0	0	13759	1319	46	2	354	2	RSPH6A	19	46303813	Missense_Mutation	SNP	G	TCGA-J4-8198-01A-11D-2260-08	29683268	46303813	12825170	37	10316											
NLRP12	91662	broad.mit.edu	37	chr19	54314362	54314362	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtgtcccacggtcctcGcgtgtccccggcctgtgtcc	1	10	12	18	4	0	0	0	0	0	0	5	0	4	0	7	3	0	0	7	3	0	0			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr19:54314362G>A	ENST00000324134.6	-	3	719	c.551C>T	c.(550-552)gCg>gTg	p.A184V	NLRP12_ENST00000351894.4_Missense_Mutation_p.A184V|NLRP12_ENST00000391772.1_Missense_Mutation_p.A184V|NLRP12_ENST00000391773.1_Missense_Mutation_p.A184V|NLRP12_ENST00000535162.1_Missense_Mutation_p.A184V|NLRP12_ENST00000391775.3_Missense_Mutation_p.A184V|NLRP12_ENST00000345770.5_Missense_Mutation_p.A184V|NLRP12_ENST00000354278.3_Missense_Mutation_p.A184V	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	184					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CACGGTCCTCGCGTGTCCCCG	0.647													20	63					0	0	1	0	0	A	54314362	G	A	54314362	3	1	219	1	0	0	0	0	1	0	0	0	10521	1087	38	1	2762	1	NLRP12	19	54314362	Missense_Mutation	SNP	G	TCGA-J4-8198-01A-11D-2260-08	8010549	54314362	4814621	38	10317											
LRRC3	81543	broad.mit.edu	37	chr21	45877185	45877185	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggttcgccatggtgatcGcctacgtcgtgtactatgtg	5	13	13	10	4	0	1	0	1	0	0	3	1	0	1	2	2	2	3	2	2	3	4	rs144515231		TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chr21:45877185G>A	ENST00000291592.4	+	2	975	c.658G>A	c.(658-660)Gcc>Acc	p.A220T		NM_030891.3	NP_112153.1	Q9BY71	LRRC3_HUMAN	leucine rich repeat containing 3	220						integral to membrane	protein binding			endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		CATGGTGATCGCCTACGTCGT	0.642													3	90					0	0	1	0	0	A	45877185	G	A	45877185	3	1	219	1	0	0	0	0	1	0	0	0	9029	1087	38	1	660	1	LRRC3	21	45877185	Missense_Mutation	SNP	G	TCGA-J4-8198-01A-11D-2260-08		45877185	2252710	39	10318											
DRP2	1821	broad.mit.edu	37	chrX	100513328	100513328	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagagctgaggcgcctgaaGtggcagcatgaggaggcagc	10	4	19	8	1	0	4	0	3	0	1	0	6	0	5	1	5	3	4	1	5	1	0			TCGA-J4-8198-01A-11D-2260-08	TCGA-J4-8198-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	686d289d-fcb7-456e-833f-11f3b2d5a361	5050d3e5-3b45-4d06-b454-7ccd753837dc	g.chrX:100513328G>A	ENST00000395209.3	+	22	2948	c.2421G>A	c.(2419-2421)aaG>aaA	p.K807K	DRP2_ENST00000541709.1_Silent_p.K729K|DRP2_ENST00000402866.1_Silent_p.K807K|DRP2_ENST00000538510.1_Silent_p.K807K	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	807					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						GGCGCCTGAAGTGGCAGCATG	0.602													2	4					0	0	1	0	0	A	100513328	G	A	100513328	2	1	219	1	0	0	0	0	0	0	0	1	4790	1020	36	2		2	DRP2	23	100513328	Silent	SNP	G	TCGA-J4-8198-01A-11D-2260-08		100513328	54757232	40	10319											
PTPRF	5792	broad.mit.edu	37	chr1	44071948	44071948	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaaggcggagaggagcagcGgcggcggcggcggcaggcag	8	0	23	10	6	0	1	0	0	0	1	0	3	0	2	0	9	2	4	0	9	1	0			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr1:44071948G>A	ENST00000359947.4	+	20	3861	c.3521G>A	c.(3520-3522)cGg>cAg	p.R1174Q	PTPRF_ENST00000438120.1_Missense_Mutation_p.R1165Q|PTPRF_ENST00000372414.3_Missense_Mutation_p.R1174Q|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_Missense_Mutation_p.R522Q|PTPRF_ENST00000372413.3_Missense_Mutation_p.R1165Q	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1174					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GAGGAGCAGCGGCGGCGGCGG	0.632													5	156					0	0	1	0	0	A	44071948	G	A	44071948	3	1	220	1	0	0	0	0	1	0	0	0	12853	1116	39	1	3591	1	PTPRF	1	44071948	Missense_Mutation	SNP	G	TCGA-J4-8200-01A-11D-A29Q-08		44071948	205178673	1	10320											
DIRAS3	9077	broad.mit.edu	37	chr1	68512452	68512452	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttggctgaaatctccatgaAggcgcaattccactccatcg	10	10	8	13	2	1	2	0	2	1	0	5	2	3	2	3	2	0	2	3	2	3	2			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr1:68512452A>C	ENST00000370981.1	-	4	1165	c.529T>G	c.(529-531)Ttc>Gtc	p.F177V	DIRAS3_ENST00000395201.1_Missense_Mutation_p.F177V|GNG12-AS1_ENST00000420587.1_RNA|GNG12-AS1_ENST00000413628.1_RNA			O95661	DIRA3_HUMAN	DIRAS family, GTP-binding RAS-like 3	177					regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						ATCTCCATGAAGGCGCAATTC	0.547													14	116					0	0	1	0	0	C	68512452	A	C	68512452	3	2	220	1	0	0	0	0	1	0	0	0	4560	72	3	5	164	5	DIRAS3	1	68512452	Missense_Mutation	SNP	A	TCGA-J4-8200-01A-11D-A29Q-08	24440504	68512452	180738169	2	10321											
NPHS2	7827	broad.mit.edu	37	chr1	179526351	179526351	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctatctccattataaacatGtctttggtcacgatctaggc	10	15	6	10	1	5	0	1	0	4	0	6	1	5	0	1	2	1	0	1	2	5	5			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr1:179526351G>A	ENST00000367615.4	-	5	617	c.549C>T	c.(547-549)gaC>gaT	p.D183D	NPHS2_ENST00000367616.4_Intron	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	183					excretion	integral to plasma membrane	protein binding			NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						TTATAAACATGTCTTTGGTCA	0.418													12	35					0	0	1	0	0	A	179526351	G	A	179526351	2	1	220	1	0	0	0	0	0	0	0	1	10630	1368	48	2		2	NPHS2	1	179526351	Silent	SNP	G	TCGA-J4-8200-01A-11D-A29Q-08	111013899	179526351	69724270	3	10322											
GOLT1A	127845	broad.mit.edu	37	chr1	204170816	204170816	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgccgaggaggggccagcGtaggagcacgataaccacac	12	3	14	12	3	0	0	0	0	0	0	0	4	0	2	3	4	4	2	3	4	2	2			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr1:204170816G>A	ENST00000308302.3	-	3	426	c.241C>T	c.(241-243)Cgc>Tgc	p.R81C	GOLT1A_ENST00000475517.1_5'UTR	NM_198447.1	NP_940849.1	Q6ZVE7	GOT1A_HUMAN	golgi transport 1A	81					protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane				kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			AGGGGCCAGCGTAGGAGCACG	0.532													6	141					0	0	1	0	0	A	204170816	G	A	204170816	3	1	220	1	0	0	0	0	1	0	0	0	6609	1145	40	1	169	1	GOLT1A	1	204170816	Missense_Mutation	SNP	G	TCGA-J4-8200-01A-11D-A29Q-08	24644465	204170816	45079805	4	10323											
OBSCN	84033	broad.mit.edu	37	chr1	228437915	228437915	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgaggccgggggccagcGgctctccttcagcctggacg	4	6	16	15	4	2	0	1	0	1	0	3	2	2	1	4	5	3	1	4	5	0	1			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr1:228437915G>A	ENST00000570156.2	+	15	4633	c.4559G>A	c.(4558-4560)cGg>cAg	p.R1520Q	OBSCN_ENST00000284548.11_Missense_Mutation_p.R1428Q|OBSCN_ENST00000422127.1_Missense_Mutation_p.R1428Q|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	498	Ig-like 15.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGGGGCCAGCGGCTCTCCTTC	0.637													9	161					0	0	1	0	0	A	228437915	G	A	228437915	3	1	220	1	0	0	0	0	1	0	0	0	10860	1116	39	1	4333	1	OBSCN	1	228437915	Missense_Mutation	SNP	G	TCGA-J4-8200-01A-11D-A29Q-08	24267099	228437915	20812706	5	10324											
RYR2	6262	broad.mit.edu	37	chr1	237608788	237608788	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgcacagcccgagttatcCggagcacagtcttccttttc	8	10	8	15	3	1	0	0	0	1	0	4	2	3	1	3	1	2	3	3	1	1	4			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr1:237608788C>T	ENST00000366574.2	+	14	1575	c.1258C>T	c.(1258-1260)Cgg>Tgg	p.R420W	RYR2_ENST00000360064.6_Missense_Mutation_p.R418W|RYR2_ENST00000542537.1_Missense_Mutation_p.R404W	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	420			R -> W (in CPVT1).		cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCGAGTTATCCGGAGCACAGT	0.388													13	39					0	0	1	0	0	T	237608788	C	T	237608788	3	4	220	1	0	0	0	0	1	0	0	0	13821	643	23	1	1312	1	RYR2	1	237608788	Missense_Mutation	SNP	C	TCGA-J4-8200-01A-11D-A29Q-08	9170873	237608788	11641833	6	10325											
MGAT5	4249	broad.mit.edu	37	chr2	135206227	135206227	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcttcctcttcaggtacaagGtgacctgccaaagctcagag	10	10	9	12	0	4	2	2	1	2	1	5	2	5	2	3	2	3	2	3	2	3	3			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr2:135206227G>T	ENST00000409645.1	+	17	2287	c.2035G>T	c.(2035-2037)Gtg>Ttg	p.V679L	MGAT5_ENST00000281923.2_Missense_Mutation_p.V679L			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	679					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		CAGGTACAAGGTGACCTGCCA	0.542													5	223					1.024e-07	1.26494e-07	1	1	0	T	135206227	G	T	135206227	3	4	220	1	0	0	0	0	1	0	0	0	9598	1261	44	4	2097	4	MGAT5	2	135206227	Missense_Mutation	SNP	G	TCGA-J4-8200-01A-11D-A29Q-08		135206227	107993146	7	10326											
GIGYF2	26058	broad.mit.edu	37	chr2	233671240	233671240	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggcagaatggtttcaggCgggctattttactatgtctt	8	15	12	6	1	2	1	1	0	1	1	2	2	2	1	0	4	1	3	0	4	4	6			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr2:233671240C>T	ENST00000373566.3	+	16	1942	c.1745C>T	c.(1744-1746)gCg>gTg	p.A582V	GIGYF2_ENST00000409547.1_Missense_Mutation_p.A560V|GIGYF2_ENST00000452341.2_Missense_Mutation_p.A391V|GIGYF2_ENST00000409451.3_Missense_Mutation_p.A581V|GIGYF2_ENST00000409196.3_Missense_Mutation_p.A554V|GIGYF2_ENST00000373563.4_Missense_Mutation_p.A560V|GIGYF2_ENST00000409480.1_Missense_Mutation_p.A582V			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	560					cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TGGTTTCAGGCGGGCTATTTT	0.403													4	142					0	0	1	0	0	T	233671240	C	T	233671240	3	4	220	1	0	0	0	0	1	0	0	0	6420	768	27	1	1799	1	GIGYF2	2	233671240	Missense_Mutation	SNP	C	TCGA-J4-8200-01A-11D-A29Q-08	98465013	233671240	9528133	8	10327											
CNTN6	27255	broad.mit.edu	37	chr3	1394066	1394066	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atattaccaggtcagatgctGgatcatatacatgcatagcc	13	11	8	9	0	2	1	2	0	0	1	2	2	2	2	2	2	5	2	2	2	5	5			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr3:1394066G>T	ENST00000446702.2	+	12	2050	c.1423G>T	c.(1423-1425)Gga>Tga	p.G475*	CNTN6_ENST00000350110.2_Nonsense_Mutation_p.G475*|CNTN6_ENST00000539053.1_Nonsense_Mutation_p.G403*			Q9UQ52	CNTN6_HUMAN	contactin 6	475	Ig-like C2-type 5.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GTCAGATGCTGGATCATATAC	0.358													6	38					0.00116845	0.00129144	1	1	0	T	1394066	G	T	1394066	4	4	220	1	0	0	0	0	0	1	0	0	3668	1349	47	4	1465	4	CNTN6	3	1394066	Nonsense_Mutation	SNP	G	TCGA-J4-8200-01A-11D-A29Q-08		1394066	196628364	9	10328											
ST8SIA4	7903	broad.mit.edu	37	chr5	100222192	100222193	+	Frame_Shift_Ins	INS	-	-	G																															ctatgtagatcatgagaaatINSgtttagtgtccggcgcctgt																										TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr5:100222192_100222193insG	ENST00000231461.5	-	3	667_668	c.357_358insC	c.(355-360)aatttcfs	p.NF119fs	ST8SIA4_ENST00000451528.2_Frame_Shift_Ins_p.NF119fs|ST8SIA4_ENST00000507360.2_5'UTR	NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	119					axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		TCATGAGAAATGTTTAGTGTCC	0.436													29	130	---	---	---	---						G	100222193	-	G	100222192	7	5	220	1	0	1	1	0	0	0	0	0	15290	1464	51	0	737	0	ST8SIA4	5	100222192	Frame_Shift_Ins	INS	-	TCGA-J4-8200-01A-11D-A29Q-08		100222192	80693068	10	10329											
RADIL	55698	broad.mit.edu	37	chr7	4843355	4843355	+	Frame_Shift_Del	DEL	G	G	-																															cgctgggcaggacgatgggtGgggggttttcgtaggactcc																										TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr7:4843355delG	ENST00000399583.3	-	11	2508	c.2321delC	c.(2320-2322)cafs	p.P775fs	RADIL_ENST00000536091.1_3'UTR|RADIL_ENST00000538469.1_Frame_Shift_Del_p.P535fs	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	775					cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GACGATGGGTGGGGGGTTTTC	0.632													2	4	---	---	---	---						-	4843355	G	-	4843355	7	5	220	1	0	1	0	1	0	0	0	0	13049	1348	47	0	926	0	RADIL	7	4843355	Frame_Shift_Del	DEL	G	TCGA-J4-8200-01A-11D-A29Q-08		4843355	154295308	11	10330											
MMP16	4325	broad.mit.edu	37	chr8	89128918	89128918	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggcactgtcggtagaggtcTtgtaggtggaggaatcttgt	7	12	17	5	1	2	1	0	0	2	1	3	3	2	3	0	6	0	3	0	6	3	4			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr8:89128918T>G	ENST00000286614.6	-	6	1182	c.901A>C	c.(901-903)Aga>Cga	p.R301R	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	301					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	p.R301*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						GGTAGAGGTCTTGTAGGTGGA	0.512													6	167					0	0	1	0	0	G	89128918	T	G	89128918	2	3	220	1	0	0	0	0	0	0	0	1	9703	1617	56	5		5	MMP16	8	89128918	Silent	SNP	T	TCGA-J4-8200-01A-11D-A29Q-08		89128918	57235104	12	10331											
ANKRD26	22852	broad.mit.edu	37	chr10	27381415	27381415	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcttttttccacttacTgcaagtaaaagtggtgtgag	9	15	10	7	0	0	1	0	1	0	0	1	1	1	1	1	1	4	4	1	1	4	5			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr10:27381415T>A	ENST00000376087.4	-	4	723	c.558A>T	c.(556-558)gcA>gcT	p.A186A	ANKRD26_ENST00000436985.2_Silent_p.A186A	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	186						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TTCCACTTACTGCAAGTAAAA	0.338													7	30					0	0	1	0	0	A	27381415	T	A	27381415	2	1	220	1	0	0	0	0	0	0	0	1	650	1567	55	5		5	ANKRD26	10	27381415	Silent	SNP	T	TCGA-J4-8200-01A-11D-A29Q-08		27381415	108153332	13	10332											
BBOX1	8424	broad.mit.edu	37	chr11	27077078	27077078	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctacccagctgtatggtTgagagacaactgtccgtgct	8	12	10	11	1	1	2	0	1	1	1	3	3	2	2	2	1	4	4	2	1	3	3			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr11:27077078T>A	ENST00000263182.3	+	3	469	c.101T>A	c.(100-102)tTg>tAg	p.L34*	RP11-1L12.3_ENST00000526061.1_RNA|BBOX1_ENST00000529202.1_Nonsense_Mutation_p.L34*|BBOX1_ENST00000528583.1_Nonsense_Mutation_p.L34*|BBOX1_ENST00000527505.1_3'UTR|BBOX1_ENST00000525090.1_Nonsense_Mutation_p.L34*	NM_003986.2	NP_003977.1	O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	34					carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	GCTGTATGGTTGAGAGACAAC	0.473													15	50					0	0	1	0	0	A	27077078	T	A	27077078	4	1	220	1	0	0	0	0	0	1	0	0	1332	1821	63	5	103	5	BBOX1	11	27077078	Nonsense_Mutation	SNP	T	TCGA-J4-8200-01A-11D-A29Q-08		27077078	107929438	14	10333											
USP28	57646	broad.mit.edu	37	chr11	113683078	113683079	+	In_Frame_Ins	INS	-	-	GAA																															caggcctccataggaatctcINStttcaacttcttcccaggaa																								rs142728209		TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr11:113683078_113683079insGAA	ENST00000003302.4	-	16	1959_1960	c.1891_1892insTTC	c.(1891-1893)aga>TTCaga	p.630_631insF	USP28_ENST00000544967.1_In_Frame_Ins_p.338_339insF|USP28_ENST00000545540.1_In_Frame_Ins_p.505_506insF|USP28_ENST00000260188.5_In_Frame_Ins_p.630_631insF	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	630					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		ATAGGAATCTCTTTCAACTTCT	0.416													7	100	---	---	---	---						GAA	113683079	-	GAA	113683078	7	5	220	1	0	1	1	0	0	0	0	0	17118	913	32	0	1381	0	USP28	11	113683078	In_Frame_Ins	INS	-	TCGA-J4-8200-01A-11D-A29Q-08	86606000	113683078	21323438	15	10334											
DNAJC22	79962	broad.mit.edu	37	chr12	49743299	49743299	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagctatgtggcagaaacctTtggctccttcttgaattggt	8	14	10	9	0	1	2	0	1	1	1	2	2	2	2	2	3	2	3	2	3	3	5			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr12:49743299T>C	ENST00000549441.2	+	3	1848	c.644T>C	c.(643-645)tTt>tCt	p.F215S	DNAJC22_ENST00000395069.3_Missense_Mutation_p.F215S			Q8N4W6	DJC22_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 22	215					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1)	10						GCAGAAACCTTTGGCTCCTTC	0.552													5	184					0	0	1	0	0	C	49743299	T	C	49743299	3	2	220	1	0	0	0	0	1	0	0	0	4668	1841	64	3	646	3	DNAJC22	12	49743299	Missense_Mutation	SNP	T	TCGA-J4-8200-01A-11D-A29Q-08		49743299	84108596	16	10335											
SH2B3	10019	broad.mit.edu	37	chr12	111885274	111885274	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggccctgatgctcatggaGtgttcctggtgcggcagagc	6	9	16	10	1	1	2	1	1	0	1	2	3	2	3	2	4	3	3	2	4	0	1			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr12:111885274G>A	ENST00000341259.2	+	6	1519	c.1162G>A	c.(1162-1164)Gtg>Atg	p.V388M	SH2B3_ENST00000538307.1_Missense_Mutation_p.V186M	NM_005475.2	NP_005466.1	Q9UQQ2	SH2B3_HUMAN	SH2B adaptor protein 3	388	SH2.				blood coagulation	cytosol	signal transducer activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	10						TGCTCATGGAGTGTTCCTGGT	0.612													31	126					0	0	1	0	0	A	111885274	G	A	111885274	3	1	220	1	0	0	0	0	1	0	0	0	14283	1029	36	2	1180	2	SH2B3	12	111885274	Missense_Mutation	SNP	G	TCGA-J4-8200-01A-11D-A29Q-08	62141975	111885274	21966621	17	10336											
TXNDC16	57544	broad.mit.edu	37	chr14	52936858	52936858	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tattcttctgcttcttggatCgatgttatattcactggata	8	19	7	7	1	4	0	1	0	3	0	5	3	4	2	0	2	1	2	0	2	4	9			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr14:52936858C>G	ENST00000281741.4	-	16	1886	c.1515G>C	c.(1513-1515)tcG>tcC	p.S505S	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	505					cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					CTTCTTGGATCGATGTTATAT	0.289													5	40					0	0	1	0	0	G	52936858	C	G	52936858	2	3	220	1	0	0	0	0	0	0	0	1	16857	871	31	4		4	TXNDC16	14	52936858	Silent	SNP	C	TCGA-J4-8200-01A-11D-A29Q-08		52936858	54412682	18	10337											
GPR132	29933	broad.mit.edu	37	chr14	105518068	105518068	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgaagcggtcgcaggagaTgcagcacaggaagaggatgc	13	3	16	9	3	0	2	0	0	0	2	1	6	0	4	0	4	4	3	0	4	2	0			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr14:105518068T>A	ENST00000329797.3	-	4	1317	c.406A>T	c.(406-408)Atc>Ttc	p.I136F	GPR132_ENST00000546679.1_5'UTR|GPR132_ENST00000539291.2_Missense_Mutation_p.I136F|GPR132_ENST00000392585.2_Missense_Mutation_p.I127F	NM_013345.2	NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	136					response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		TCGCAGGAGATGCAGCACAGG	0.642													21	166					0	0	1	0	0	A	105518068	T	A	105518068	3	1	220	1	0	0	0	0	1	0	0	0	6682	1464	51	5	740	5	GPR132	14	105518068	Missense_Mutation	SNP	T	TCGA-J4-8200-01A-11D-A29Q-08	52581210	105518068	1831472	19	10338											
SLFN11	91607	broad.mit.edu	37	chr17	33679579	33679579	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcatcactgagctgcaccacCcttttcttcctcattgcttt	6	15	5	15	0	3	1	2	1	1	0	4	1	4	1	3	0	3	4	3	0	0	5			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr17:33679579C>A	ENST00000394566.1	-	7	2774	c.2502G>T	c.(2500-2502)agG>agT	p.R834S	SLFN11_ENST00000308377.4_Missense_Mutation_p.R834S	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	834						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GCTGCACCACCCTTTTCTTCC	0.473													7	134					8.12818e-05	9.48288e-05	1	1	0	A	33679579	C	A	33679579	3	1	220	1	0	0	0	0	1	0	0	0	14788	622	22	4	207	4	SLFN11	17	33679579	Missense_Mutation	SNP	C	TCGA-J4-8200-01A-11D-A29Q-08		33679579	47515631	20	10339											
ERBB2	2064	broad.mit.edu	37	chr17	37879658	37879658	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggatcctcatcaagcgacGgcagcagaagatccggaagt	12	6	13	10	3	2	2	2	0	0	2	4	5	4	4	2	3	2	2	2	3	3	0			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr17:37879658G>A	ENST00000406381.2	+	19	2453	c.1943G>A	c.(1942-1944)cGg>cAg	p.R648Q	ERBB2_ENST00000541774.1_Missense_Mutation_p.R663Q|ERBB2_ENST00000540147.1_Missense_Mutation_p.R648Q|ERBB2_ENST00000584601.1_Missense_Mutation_p.R648Q|ERBB2_ENST00000445658.2_Missense_Mutation_p.R402Q|ERBB2_ENST00000584450.1_Missense_Mutation_p.R678Q|ERBB2_ENST00000269571.5_Missense_Mutation_p.R678Q	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	678					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	ATCAAGCGACGGCAGCAGAAG	0.637		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)			39	76					0	0	1	0	0	A	37879658	G	A	37879658	3	1	220	1	0	0	0	0	1	0	0	0	5234	1116	39	1	2099	1	ERBB2	17	37879658	Missense_Mutation	SNP	G	TCGA-J4-8200-01A-11D-A29Q-08	4200079	37879658	43315552	21	10340											
LIMD2	80774	broad.mit.edu	37	chr17	61776290	61776290	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tccttcacctgggcccgcagGctgaaggactgtgcgggaag	7	7	15	12	2	1	1	1	1	0	0	2	3	2	3	3	4	1	2	3	4	2	1			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr17:61776290G>A	ENST00000259006.3	-	4	251	c.93C>T	c.(91-93)agC>agT	p.S31S	LIMD2_ENST00000583211.1_5'UTR|LIMD2_ENST00000582055.1_5'UTR|LIMD2_ENST00000578402.1_Silent_p.S31S|LIMD2_ENST00000578061.1_Silent_p.S31S|LIMD2_ENST00000578993.1_Intron	NM_030576.3	NP_085053.1	Q9BT23	LIMD2_HUMAN	LIM domain containing 2	31							zinc ion binding			kidney(1)|lung(2)	3						GGGCCCGCAGGCTGAAGGACT	0.662													5	93					0	0	1	0	0	A	61776290	G	A	61776290	2	1	220	1	0	0	0	0	0	0	0	1	8839	1194	42	2		2	LIMD2	17	61776290	Silent	SNP	G	TCGA-J4-8200-01A-11D-A29Q-08	23896632	61776290	19418920	22	10341											
ADORA2A	135	broad.mit.edu	37	chr22	24837228	24837228	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggagagcaggtcagcctccGtctcaacggccacccgccag	8	4	12	17	4	2	1	2	0	1	1	4	2	3	1	5	3	3	1	5	3	1	0			TCGA-J4-8200-01A-11D-A29Q-08	TCGA-J4-8200-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0045d518-7b93-44b2-bb7b-dc11c85b3c93	e0bbf450-eb07-4a04-bfb5-5d1a5e885209	g.chr22:24837228G>A	ENST00000337539.7	+	3	1469	c.1010G>A	c.(1009-1011)cGt>cAt	p.R337H	ADORA2A-AS1_ENST00000543438.1_RNA|ADORA2A-AS1_ENST00000427813.2_RNA|ADORA2A-AS1_ENST00000326341.4_RNA|KB-1896H10.1_ENST00000358654.2_3'UTR	NM_000675.4|NM_001278497.1|NM_001278498.1|NM_001278499.1|NM_001278500.1	NP_000666.2|NP_001265426.1|NP_001265427.1|NP_001265428.1|NP_001265429.1	P29274	AA2AR_HUMAN	adenosine A2a receptor	337					apoptosis|blood coagulation|cAMP biosynthetic process|cellular defense response|inflammatory response|nerve growth factor receptor signaling pathway|phagocytosis|sensory perception	integral to plasma membrane|membrane fraction	enzyme binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21	Colorectal(2;0.196)				Caffeine(DB00201)|Defibrotide(DB04932)|Pegademase bovine(DB00061)|Theophylline(DB00277)	GTCAGCCTCCGTCTCAACGGC	0.662													6	21					0	0	1	0	0	A	24837228	G	A	24837228	3	1	220	1	0	0	0	0	1	0	0	0	326	1145	40	1	1016	1	ADORA2A	22	24837228	Missense_Mutation	SNP	G	TCGA-J4-8200-01A-11D-A29Q-08		24837228	26467338	23	10342											
ALDH4A1	8659	broad.mit.edu	37	chr1	19203914	19203914	+	Frame_Shift_Del	DEL	C	C	-																															tgacggtgccactcacgtcgCccactttgatccgactgtgc																										TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr1:19203914delC	ENST00000375341.3	-	10	1390	c.1133delG	c.(1132-1134)gcfs	p.G378fs	ALDH4A1_ENST00000538839.1_Frame_Shift_Del_p.G378fs|ALDH4A1_ENST00000290597.5_Frame_Shift_Del_p.G378fs|ALDH4A1_ENST00000538309.1_Frame_Shift_Del_p.G318fs|RP13-279N23.2_ENST00000494072.3_3'UTR	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	378					proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	NADH(DB00157)	ACTCACGTCGCCCACTTTGAT	0.701													2	4	---	---	---	---						-	19203914	C	-	19203914	7	5	221	1	0	1	0	1	0	0	0	0	498	739	26	0	582	0	ALDH4A1	1	19203914	Frame_Shift_Del	DEL	C	TCGA-J4-A67K-01A-21D-A30E-08		19203914	230046707	1	10343											
RXRG	6258	broad.mit.edu	37	chr1	165414095	165414095	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacttacctccatagcctgcGggaaacttcatgaagtgaga	12	10	9	10	1	1	2	1	2	0	1	2	4	2	3	3	1	5	0	3	1	5	4			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr1:165414095G>T	ENST00000359842.5	-	1	338	c.36C>A	c.(34-36)ccC>ccA	p.P12P		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	12	Modulating (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	CATAGCCTGCGGGAAACTTCA	0.448													8	44					1.26484e-09	1.3966e-09	1	1	0	T	165414095	G	T	165414095	2	4	221	1	0	0	0	0	0	0	0	1	13817	1103	39	4		4	RXRG	1	165414095	Silent	SNP	G	TCGA-J4-A67K-01A-21D-A30E-08	146210181	165414095	83836526	2	10344											
APOB	338	broad.mit.edu	37	chr2	21232902	21232902	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttaactttccagctaggtGctggatgtctatattctgta	8	18	8	7	0	2	0	0	0	2	0	3	1	3	1	1	2	3	3	1	2	5	8			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr2:21232902G>A	ENST00000233242.1	-	26	6965	c.6838C>T	c.(6838-6840)Cac>Tac	p.H2280Y		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2280					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CCAGCTAGGTGCTGGATGTCT	0.348													39	89					0	0	1	0	0	A	21232902	G	A	21232902	3	1	221	1	0	0	0	0	1	0	0	0	782	1319	46	2	6869	2	APOB	2	21232902	Missense_Mutation	SNP	G	TCGA-J4-A67K-01A-21D-A30E-08		21232902	221966471	3	10345											
HTR2B	3357	broad.mit.edu	37	chr2	231988403	231988403	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaccagttagaagagataaCgtgaacaaaggtgctctgca	16	7	11	7	1	1	4	0	1	1	3	1	5	1	4	1	1	4	3	1	1	5	2			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr2:231988403C>G	ENST00000258400.3	-	2	588	c.76G>C	c.(76-78)Gtt>Ctt	p.V26L	PSMD1_ENST00000373635.4_Intron|PSMD1_ENST00000308696.6_Intron|PSMD1_ENST00000409643.1_Intron	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled	26					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction	cytoplasm|integral to membrane|plasma membrane	calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator activity|serotonin binding|serotonin receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508)	GAAGAGATAACGTGAACAAAG	0.418													12	146					0	0	1	0	0	G	231988403	C	G	231988403	3	3	221	1	0	0	0	0	1	0	0	0	7486	536	19	4	1381	4	HTR2B	2	231988403	Missense_Mutation	SNP	C	TCGA-J4-A67K-01A-21D-A30E-08	210755501	231988403	11210970	4	10346											
PER2	8864	broad.mit.edu	37	chr2	239160327	239160327	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaggctgagcagaggtcctCattcagcaggaggtttagga	10	8	15	8	1	2	2	2	1	0	1	3	5	3	4	1	5	2	4	1	5	1	3			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr2:239160327C>A	ENST00000254657.3	-	20	3466	c.3187G>T	c.(3187-3189)Gag>Tag	p.E1063*	PER2_ENST00000254658.3_3'UTR|AC096574.4_ENST00000456601.1_RNA	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	1063					circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		CAGAGGTCCTCATTCAGCAGG	0.607													5	77					0.00116845	0.00121427	1	1	0	A	239160327	C	A	239160327	4	1	221	1	0	0	0	0	0	1	0	0	11777	835	29	4	596	4	PER2	2	239160327	Nonsense_Mutation	SNP	C	TCGA-J4-A67K-01A-21D-A30E-08	7171924	239160327	4039046	5	10347											
CHDH	55349	broad.mit.edu	37	chr3	53852145	53852145	+	Frame_Shift_Del	DEL	G	G	-																															tggctggagctctttccctcGgaacggagccagggcttcct																										TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr3:53852145delG	ENST00000315251.5	-	9	1881	c.1444delC	c.(1444-1446)gafs	p.R482fs		NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN	choline dehydrogenase	482					alcohol metabolic process		choline dehydrogenase activity|flavin adenine dinucleotide binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	TCTTTCCCTCGGAACGGAGCC	0.522													17	103	---	---	---	---						-	53852145	G	-	53852145	7	5	221	1	0	1	0	1	0	0	0	0	3355	1124	39	0	344	0	CHDH	3	53852145	Frame_Shift_Del	DEL	G	TCGA-J4-A67K-01A-21D-A30E-08		53852145	144170285	6	10348											
RNF13	11342	broad.mit.edu	37	chr3	149563860	149563860	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctgtcagccacacaagtctAcaccatcttgactgtccagc	10	9	7	15	0	3	1	1	1	2	0	4	1	4	1	3	0	3	1	3	0	2	2			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr3:149563860A>G	ENST00000344229.3	+	3	749	c.47A>G	c.(46-48)tAc>tGc	p.Y16C	RNF13_ENST00000392894.3_Missense_Mutation_p.Y16C|ANKUB1_ENST00000473672.1_5'UTR	NM_007282.4	NP_009213.1	O43567	RNF13_HUMAN	ring finger protein 13	16					protein autoubiquitination	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane|nuclear inner membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	11		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			ACACAAGTCTACACCATCTTG	0.428													17	50					0	0	1	0	0	G	149563860	A	G	149563860	3	3	221	1	0	0	0	0	1	0	0	0	13489	391	14	3	49	3	RNF13	3	149563860	Missense_Mutation	SNP	A	TCGA-J4-A67K-01A-21D-A30E-08	95711715	149563860	48458570	7	10349											
GDNF	2668	broad.mit.edu	37	chr5	37816139	37816139	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctctcttctaggaagcactgCcatttgtttatctggtgacc	7	15	8	11	0	3	1	0	1	3	0	4	2	3	2	2	2	2	2	2	2	3	5			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr5:37816139C>A	ENST00000326524.2	-	3	449	c.250G>T	c.(250-252)Gca>Tca	p.A84S	GDNF_ENST00000427982.1_Missense_Mutation_p.A101S|GDNF_ENST00000381826.4_Missense_Mutation_p.A75S|GDNF_ENST00000344622.4_Missense_Mutation_p.A58S|GDNF_ENST00000515058.1_Missense_Mutation_p.A58S	NM_000514.3	NP_000505.1	P39905	GDNF_HUMAN	glial cell derived neurotrophic factor	84					adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development	extracellular region	growth factor activity|protein homodimerization activity			NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2)	15	all_lung(31;0.00118)					GGAAGCACTGCCATTTGTTTA	0.483													11	93					5.50884e-06	5.83937e-06	1	1	0	A	37816139	C	A	37816139	3	1	221	1	0	0	0	0	1	0	0	0	6364	739	26	4	388	4	GDNF	5	37816139	Missense_Mutation	SNP	C	TCGA-J4-A67K-01A-21D-A30E-08		37816139	143099121	8	10350											
PCDHB10	0	broad.mit.edu	37	chr5	140574345	140574345	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccagggcatctggtggaCgtgaggggcgctgagaccct	6	9	16	10	2	1	2	0	2	1	1	2	4	2	3	2	5	0	2	2	5	0	1	rs146513187	byFrequency	TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr5:140574345C>T	ENST00000239446.4	+	1	2404	c.2220C>T	c.(2218-2220)gaC>gaT	p.D740D		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		740					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATCTGGTGGACGTGAGGGGCG	0.627													5	189					0	0	1	0	0	T	140574345	C	T	140574345	2	4	221	1	0	0	0	0	0	0	0	1	11582	535	19	1		1	PCDHB10	5	140574345	Silent	SNP	C	TCGA-J4-A67K-01A-21D-A30E-08	102758206	140574345	40340915	9	10351											
LMAN2	10960	broad.mit.edu	37	chr5	176778547	176778547	+	Frame_Shift_Del	DEL	A	A	-																															gaccccaacaacaaaagaagAaagagaggtgtagtggggcc																										TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr5:176778547delA	ENST00000303127.7	-	1	306	c.102delT	c.(100-102)ttfs	p.F34fs	LMAN2_ENST00000515209.1_Frame_Shift_Del_p.F34fs|LMAN2_ENST00000506310.1_5'UTR	NM_006816.2	NP_006807.1	Q12907	LMAN2_HUMAN	lectin, mannose-binding 2	34					protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	metal ion binding|sugar binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACAAAAGAAGAAAGAGAGGTG	0.602													11	51	---	---	---	---						-	176778547	A	-	176778547	7	5	221	1	0	1	0	1	0	0	0	0	8879	243	9	0	1000	0	LMAN2	5	176778547	Frame_Shift_Del	DEL	A	TCGA-J4-A67K-01A-21D-A30E-08	36204202	176778547	4136713	10	10352											
RIPK1	8737	broad.mit.edu	37	chr6	3113516	3113516	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gggaagctggcccaggcgctCcaccagtgttccaggatcga	8	6	14	13	2	0	0	0	0	0	0	3	3	2	2	4	4	1	3	4	4	1	1			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr6:3113516C>T	ENST00000259808.4	+	11	2257	c.1959C>T	c.(1957-1959)ctC>ctT	p.L653L	RIPK1_ENST00000541791.1_Silent_p.L607L|RIPK1_ENST00000380409.2_Silent_p.L653L			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	653	Death.				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				CCCAGGCGCTCCACCAGTGTT	0.547													5	47					0	0	1	0	0	T	3113516	C	T	3113516	2	4	221	1	0	0	0	0	0	0	0	1	13432	842	30	2		2	RIPK1	6	3113516	Silent	SNP	C	TCGA-J4-A67K-01A-21D-A30E-08		3113516	168001551	11	10353											
HIVEP1	3096	broad.mit.edu	37	chr6	12124160	12124160	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttaattgcacgcaaacgtcaAtggaggtctctgatctcaga	12	11	9	9	2	3	2	2	1	2	1	5	3	3	3	0	2	2	2	0	2	3	2	rs147240117	by1000genomes	TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr6:12124160A>G	ENST00000379388.2	+	4	4464	c.4132A>G	c.(4132-4134)Atg>Gtg	p.M1378V		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1378					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GCAAACGTCAATGGAGGTCTC	0.468													12	97					0	0	1	0	0	G	12124160	A	G	12124160	3	3	221	1	0	0	0	0	1	0	0	0	7227	101	4	3	4142	3	HIVEP1	6	12124160	Missense_Mutation	SNP	A	TCGA-J4-A67K-01A-21D-A30E-08	9010644	12124160	158990907	12	10354											
C6orf89	221477	broad.mit.edu	37	chr6	36887410	36887410	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtgaggccatgttgcagctCatccctcccttccagtgccg	5	10	11	15	1	1	1	1	1	0	0	4	1	4	1	5	2	3	3	5	2	0	2			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr6:36887410C>T	ENST00000480824.2	+	8	1176	c.882C>T	c.(880-882)ctC>ctT	p.L294L	C6orf89_ENST00000355190.3_Silent_p.L301L|C6orf89_ENST00000373685.1_Silent_p.L294L|C6orf89_ENST00000359359.2_Silent_p.L188L|C6orf89_ENST00000510325.2_Silent_p.L188L			Q6UWU4	CF089_HUMAN	chromosome 6 open reading frame 89	294						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						TGTTGCAGCTCATCCCTCCCT	0.532													10	89					0	0	1	0	0	T	36887410	C	T	36887410	2	4	221	1	0	0	0	0	0	0	0	1	2388	813	29	2		2	C6orf89	6	36887410	Silent	SNP	C	TCGA-J4-A67K-01A-21D-A30E-08	24763250	36887410	134227657	13	10355											
LIN28B	389421	broad.mit.edu	37	chr6	105406094	105406094	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caatgtgcgcatgggatttgGattcatctccatgataaacc	11	12	9	9	1	2	1	1	1	1	0	3	3	2	3	2	2	2	1	2	2	3	3			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr6:105406094G>T	ENST00000345080.4	+	2	334	c.131G>T	c.(130-132)gGa>gTa	p.G44V		NM_001004317.3	NP_001004317.1	Q6ZN17	LN28B_HUMAN	lin-28 homolog B (C. elegans)	44	CSD.				miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing	cytoplasm|nucleus	DNA binding|protein binding|RNA binding|zinc ion binding			large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				ATGGGATTTGGATTCATCTCC	0.517													19	114					4.96729e-08	5.37278e-08	1	1	0	T	105406094	G	T	105406094	3	4	221	1	0	0	0	0	1	0	0	0	8847	1174	41	4	137	4	LIN28B	6	105406094	Missense_Mutation	SNP	G	TCGA-J4-A67K-01A-21D-A30E-08	68518684	105406094	65708973	14	10356											
VGLL2	245806	broad.mit.edu	37	chr6	117593620	117593620	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatcttggtttgcagctcGtcgttattccctctgtggtg	3	17	11	10	2	2	1	0	1	2	0	5	1	3	1	1	2	2	4	1	2	1	4	rs143287461	by1000genomes	TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr6:117593620G>A	ENST00000326274.5	+	4	1107	c.917G>A	c.(916-918)cGt>cAt	p.R306H	VGLL2_ENST00000352536.3_Missense_Mutation_p.R132H	NM_182645.2	NP_872586.1	Q8N8G2	VGLL2_HUMAN	vestigial like 2 (Drosophila)	306					transcription, DNA-dependent	nucleus				central_nervous_system(1)|kidney(1)|lung(3)	5				GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)		TTTGCAGCTCGTCGTTATTCC	0.537													7	323					0	0	1	0	0	A	117593620	G	A	117593620	3	1	221	1	0	0	0	0	1	0	0	0	17219	1145	40	1	931	1	VGLL2	6	117593620	Missense_Mutation	SNP	G	TCGA-J4-A67K-01A-21D-A30E-08	12187526	117593620	53521447	15	10357											
TIAM2	26230	broad.mit.edu	37	chr6	155572137	155572137	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taggaaaagctagaaaggacCttgagctcacagtatttggt	14	10	11	6	0	1	2	1	1	0	1	1	4	1	4	1	3	2	3	1	3	6	5			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr6:155572137C>A	ENST00000461783.3	+	24	5315	c.4042C>A	c.(4042-4044)Ctt>Att	p.L1348I	TIAM2_ENST00000367174.2_Missense_Mutation_p.L724I|TIAM2_ENST00000529824.2_Missense_Mutation_p.L1377I|TIAM2_ENST00000456144.1_Missense_Mutation_p.L1377I|TIAM2_ENST00000528391.2_Missense_Mutation_p.L684I|TIAM2_ENST00000275246.7_Missense_Mutation_p.L273I|TIAM2_ENST00000318981.5_Missense_Mutation_p.L1348I|TIAM2_ENST00000360366.4_Missense_Mutation_p.L1372I|TIAM2_ENST00000456877.2_Missense_Mutation_p.L660I			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1348	PH 2.				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TAGAAAGGACCTTGAGCTCAC	0.453													32	95					1.99505e-19	2.29865e-19	1	1	0	A	155572137	C	A	155572137	3	1	221	1	0	0	0	0	1	0	0	0	15951	681	24	4	4116	4	TIAM2	6	155572137	Missense_Mutation	SNP	C	TCGA-J4-A67K-01A-21D-A30E-08	37978517	155572137	15542930	16	10358											
VSTM2A	222008	broad.mit.edu	37	chr7	54617801	54617801	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccatggctctgccaaccaacGaacgcactccacctccagcc	10	5	6	20	2	1	0	0	0	1	0	3	1	3	0	7	1	5	2	7	1	3	0			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr7:54617801G>A	ENST00000302287.3	+	4	978	c.572G>A	c.(571-573)cGa>cAa	p.R191Q	VSTM2A_ENST00000402026.2_Missense_Mutation_p.R190Q|VSTM2A_ENST00000402613.3_Missense_Mutation_p.R191Q|VSTM2A_ENST00000498834.1_3'UTR|VSTM2A_ENST00000404951.1_Missense_Mutation_p.R191Q|VSTM2A_ENST00000407838.3_Missense_Mutation_p.R191Q			Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	191						extracellular region		p.R190Q(2)|p.R191Q(1)		endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			GCCAACCAACGAACGCACTCC	0.547													7	13					0	0	1	0	0	A	54617801	G	A	54617801	3	1	221	1	0	0	0	0	1	0	0	0	17289	1058	37	1	586	1	VSTM2A	7	54617801	Missense_Mutation	SNP	G	TCGA-J4-A67K-01A-21D-A30E-08		54617801	104520862	17	10359											
MUC17	140453	broad.mit.edu	37	chr7	100680909	100680909	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttcaacaactcctgttgactCcaaaactcaggtgaccaatt	13	11	5	12	0	2	2	2	2	0	0	4	2	4	2	3	1	3	1	3	1	5	3			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr7:100680909C>T	ENST00000306151.4	+	3	6276	c.6212C>T	c.(6211-6213)tCc>tTc	p.S2071F		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2071	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCTGTTGACTCCAAAACTCAG	0.488													83	215					0	0	1	0	0	T	100680909	C	T	100680909	3	4	221	1	0	0	0	0	1	0	0	0	10022	855	30	2	6222	2	MUC17	7	100680909	Missense_Mutation	SNP	C	TCGA-J4-A67K-01A-21D-A30E-08	46063108	100680909	58457754	18	10360											
BNC2	54796	broad.mit.edu	37	chr9	16436375	16436375	+	Frame_Shift_Del	DEL	G	G	-																															ctactggctcagagggtggcGgggggtgctgctctatggta																								rs116528562	byFrequency	TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr9:16436375delG	ENST00000380672.4	-	6	1874	c.1817delC	c.(1816-1818)cgfs	p.P608fs	BNC2_ENST00000380666.2_Frame_Shift_Del_p.P608fs|BNC2_ENST00000545497.1_Frame_Shift_Del_p.P513fs|BNC2_ENST00000380667.2_Frame_Shift_Del_p.P541fs	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	608	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		AGAGGGTGGCGGGGGGTGCTG	0.562													28	127	---	---	---	---						-	16436375	G	-	16436375	7	5	221	1	0	1	0	1	0	0	0	0	1474	1116	39	0	1490	0	BNC2	9	16436375	Frame_Shift_Del	DEL	G	TCGA-J4-A67K-01A-21D-A30E-08		16436375	124777056	19	10361											
BNC2	54796	broad.mit.edu	37	chr9	16436741	16436741	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cactgtggcgattacgacttCggagggagctaaagaccatg	11	8	13	9	3	0	1	0	0	0	1	1	5	0	3	1	3	2	1	1	3	3	3			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr9:16436741C>T	ENST00000380672.4	-	6	1508	c.1451G>A	c.(1450-1452)cGa>cAa	p.R484Q	BNC2_ENST00000380667.2_Missense_Mutation_p.R417Q|BNC2_ENST00000380666.2_Missense_Mutation_p.R484Q|BNC2_ENST00000545497.1_Missense_Mutation_p.R389Q	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	484					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		ATTACGACTTCGGAGGGAGCT	0.448													10	105					0	0	1	0	0	T	16436741	C	T	16436741	3	4	221	1	0	0	0	0	1	0	0	0	1474	884	31	1	1856	1	BNC2	9	16436741	Missense_Mutation	SNP	C	TCGA-J4-A67K-01A-21D-A30E-08	366	16436741	124776690	20	10362											
C9orf156	51531	broad.mit.edu	37	chr9	100675695	100675695	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgggttaccttctaccttttCcagcttggccagggtcagtc	5	14	10	12	0	2	0	1	0	1	0	4	0	3	0	4	3	3	2	4	3	2	6			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr9:100675695C>T	ENST00000375119.3	-	3	473	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K	C9orf156_ENST00000478126.1_5'UTR	NM_016481.3	NP_057565.3	Q9BU70	NAP1_HUMAN	chromosome 9 open reading frame 156	133					interspecies interaction between organisms		hydrolase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)	13		Acute lymphoblastic leukemia(62;0.158)				TCTACCTTTTCCAGCTTGGCC	0.433													27	62					0	0	1	0	0	T	100675695	C	T	100675695	3	4	221	1	0	0	0	0	1	0	0	0	2483	864	30	2	940	2	C9orf156	9	100675695	Missense_Mutation	SNP	C	TCGA-J4-A67K-01A-21D-A30E-08	84238954	100675695	40537736	21	10363											
RGS3	5998	broad.mit.edu	37	chr9	116356367	116356367	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtccctcccatttcctggctCctcctgtctgagtcccagcc	3	12	7	19	0	1	1	0	1	1	0	7	1	7	1	7	1	1	1	7	1	0	1			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr9:116356367C>G	ENST00000462403.1	+	1	602	c.168C>G	c.(166-168)ctC>ctG	p.L56L	RGS3_ENST00000394646.3_Intron|RGS3_ENST00000374140.2_Intron|RGS3_ENST00000350696.5_Intron|RGS3_ENST00000462143.1_Intron|RGS3_ENST00000343817.5_Intron|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000374134.3_Intron	NM_144489.2	NP_652760.2	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	0					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						TTTCCTGGCTCCTCCTGTCTG	0.612													33	212					0	0	1	0	0	G	116356367	C	G	116356367	2	3	221	1	0	0	0	0	0	0	0	1	13356	842	30	4		4	RGS3	9	116356367	Silent	SNP	C	TCGA-J4-A67K-01A-21D-A30E-08	15680672	116356367	24857064	22	10364											
IFFO1	25900	broad.mit.edu	37	chr12	6657960	6657960	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctcctcgacggcagccttgCgctcccgcttccgccccccc	2	7	8	24	5	0	0	0	0	0	0	4	1	3	0	8	1	2	3	8	1	0	2	rs149041603		TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr12:6657960C>T	ENST00000436152.2	-	7	750	c.191G>A	c.(190-192)cGc>cAc	p.R64H	IFFO1_ENST00000336604.4_Missense_Mutation_p.R371H|IFFO1_ENST00000465801.1_Missense_Mutation_p.R64H|IFFO1_ENST00000356896.4_Missense_Mutation_p.R371H|IFFO1_ENST00000396840.2_Missense_Mutation_p.R368H			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	368						intermediate filament				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						GGCAGCCTTGCGCTCCCGCTT	0.657													3	31					0	0	1	0	0	T	6657960	C	T	6657960	3	4	221	1	0	0	0	0	1	0	0	0	7554	768	27	1	599	1	IFFO1	12	6657960	Missense_Mutation	SNP	C	TCGA-J4-A67K-01A-21D-A30E-08		6657960	127193935	23	10365											
GUCY2C	2984	broad.mit.edu	37	chr12	14804406	14804406	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtatcaagtttcactgtgcCgtagaacttggtcaggttgt	8	14	12	7	1	3	1	3	0	0	1	3	1	3	1	1	3	2	4	1	3	4	5			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr12:14804406C>G	ENST00000261170.3	-	15	1781	c.1645G>C	c.(1645-1647)Ggc>Cgc	p.G549R		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	549	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	p.G549C(1)		breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						TTCACTGTGCCGTAGAACTTG	0.403													10	42					0	0	1	0	0	G	14804406	C	G	14804406	3	3	221	1	0	0	0	0	1	0	0	0	6937	652	23	4	1628	4	GUCY2C	12	14804406	Missense_Mutation	SNP	C	TCGA-J4-A67K-01A-21D-A30E-08	8146446	14804406	119047489	24	10366											
TPTE2	93492	broad.mit.edu	37	chr13	20056679	20056679	+	Missense_Mutation	SNP	T	T	G																															cttcaaacttggaaagtcgtTctaacatactttagccacca																										TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr13:20056679T>G	ENST00000400230.2	-	4	172	c.128A>C	c.(127-129)gAa>gCa	p.E43A	TPTE2_ENST00000382977.4_Missense_Mutation_p.E43A|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382978.1_Missense_Mutation_p.E43A|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000457266.2_Missense_Mutation_p.E43A|TPTE2_ENST00000400103.2_Missense_Mutation_p.E43A|TPTE2_ENST00000382975.4_Missense_Mutation_p.E43A			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	43						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.E43A(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		GGAAAGTCGTTCTAACATACT	0.313													3	69					0	0	1	0	0	G	20056679	T	G	20056679	3	3	221	1	0	0	0	0	1	0	0	0	16492	1783	62	5	1508	5	TPTE2	13	20056679	Missense_Mutation	SNP	T	TCGA-J4-A67K-01A-21D-A30E-08		20056679	95113199	25	10367	54	2									
TPTE2	93492	broad.mit.edu	37	chr13	20056686	20056686	+	Splice_Site	SNP	T	T	C																															cttggaaagtcgttctaacaTactttagccaccaaaaaaaa																										TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr13:20056686T>C	ENST00000400230.2	-	4	165	c.119_splice	c.e4-1	p.M41_splice	TPTE2_ENST00000382977.4_Splice_Site_p.M41_splice|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382978.1_Splice_Site_p.M41_splice|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000457266.2_Splice_Site_p.M41_splice|TPTE2_ENST00000400103.2_Splice_Site_p.M41_splice|TPTE2_ENST00000382975.4_Splice_Site_p.M41_splice			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	41						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CGTTCTAACATACTTTAGCCA	0.313													4	66					0	0	1	0	0	C	20056686	T	C	20056686	5	2	221	1	0	0	0	0	0	0	1	0	16492	1420	49	3	1515	3	TPTE2	13	20056686	Splice_Site	SNP	T	TCGA-J4-A67K-01A-21D-A30E-08	7	20056686	95113192	26	10368	54	2									
PKD1	5310	broad.mit.edu	37	chr16	2161134	2161134	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgcgtgaagttgtgtgtcAccgtcgggcacccccgcacg	5	8	13	15	6	1	1	1	1	0	0	3	1	2	1	4	1	0	3	4	1	1	1			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr16:2161134A>C	ENST00000262304.4	-	15	4242	c.4034T>G	c.(4033-4035)gTg>gGg	p.V1345G	PKD1_ENST00000423118.1_Missense_Mutation_p.V1345G	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1345	PKD 8.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GTTGTGTGTCACCGTCGGGCA	0.667													18	45					0	0	1	0	0	C	2161134	A	C	2161134	3	2	221	1	0	0	0	0	1	0	0	0	12011	159	6	5	9005	5	PKD1	16	2161134	Missense_Mutation	SNP	A	TCGA-J4-A67K-01A-21D-A30E-08		2161134	88193619	27	10369											
DPEP2	64174	broad.mit.edu	37	chr16	68024898	68024898	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggttcatttctgccaccacCttctgcagggacatgttggg	6	12	11	12	1	3	0	1	0	2	0	3	1	3	1	3	3	2	3	3	3	0	4			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr16:68024898C>A	ENST00000412757.2	-	8	1400	c.735G>T	c.(733-735)aaG>aaT	p.K245N	DPEP2_ENST00000393847.1_Missense_Mutation_p.K245N|DPEP2_ENST00000572888.1_Missense_Mutation_p.K245N			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	245					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		CTGCCACCACCTTCTGCAGGG	0.527													41	102					3.33635e-10	3.76227e-10	1	1	0	A	68024898	C	A	68024898	3	1	221	1	0	0	0	0	1	0	0	0	4741	680	24	4	745	4	DPEP2	16	68024898	Missense_Mutation	SNP	C	TCGA-J4-A67K-01A-21D-A30E-08	65863764	68024898	22329855	28	10370											
RSAD1	55316	broad.mit.edu	37	chr17	48559551	48559551	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgcctctttcccgggcgcGtgtctgtagacttgatgctg	3	12	14	12	4	2	2	0	1	2	1	3	2	3	2	2	2	1	2	2	2	1	3			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr17:48559551G>A	ENST00000258955.2	+	4	659	c.574G>A	c.(574-576)Gtg>Atg	p.V192M		NM_018346.1	NP_060816.1	Q9HA92	RSAD1_HUMAN	radical S-adenosyl methionine domain containing 1	192					porphyrin biosynthetic process	mitochondrion	4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding	p.V192M(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			TCCCGGGCGCGTGTCTGTAGA	0.667											OREG0024567	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	39	76					0	0	1	0	0	A	48559551	G	A	48559551	3	1	221	1	0	0	0	0	1	0	0	0	13746	1145	40	1	588	1	RSAD1	17	48559551	Missense_Mutation	SNP	G	TCGA-J4-A67K-01A-21D-A30E-08		48559551	32635659	29	10371											
DSG4	147409	broad.mit.edu	37	chr18	28986327	28986327	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgatggttctgggcatcctgCtactgatttgtaagtactca	8	15	10	8	0	2	2	1	2	1	0	3	2	3	2	1	2	3	5	1	2	3	5			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr18:28986327C>T	ENST00000359747.4	+	12	1953	c.1924C>T	c.(1924-1926)Cta>Tta	p.L642L	RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Silent_p.L642L	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	642					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GGGCATCCTGCTACTGATTTG	0.458													23	89					0	0	1	0	0	T	28986327	C	T	28986327	2	4	221	1	0	0	0	0	0	0	0	1	4805	796	28	2		2	DSG4	18	28986327	Silent	SNP	C	TCGA-J4-A67K-01A-21D-A30E-08		28986327	49090921	30	10372											
IL27RA	9466	broad.mit.edu	37	chr19	14162942	14162942	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagccccttggggacttgcCcatcctggaagtggaggaga	8	7	14	12	0	0	1	0	0	0	1	1	5	1	4	5	5	2	0	5	5	1	2			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr19:14162942C>T	ENST00000263379.2	+	14	1876	c.1751C>T	c.(1750-1752)cCc>cTc	p.P584L		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	584					cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						GGGGACTTGCCCATCCTGGAA	0.652													7	21					0	0	1	0	0	T	14162942	C	T	14162942	3	4	221	1	0	0	0	0	1	0	0	0	7725	623	22	2	1805	2	IL27RA	19	14162942	Missense_Mutation	SNP	C	TCGA-J4-A67K-01A-21D-A30E-08		14162942	44966041	31	10373											
ZNF99	7652	broad.mit.edu	37	chr19	22951198	22951198	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagtctagcttagagacagcGatacctgttttattaaaaat	15	13	7	6	1	1	1	0	0	1	1	1	3	1	1	1	0	3	2	1	0	8	6	rs147397251		TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr19:22951198G>A	ENST00000397104.3	-	3	197	c.198C>T	c.(196-198)atC>atT	p.I66I	ZNF99_ENST00000596209.1_Silent_p.I45I					zinc finger protein 99									p.I66I(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TAGAGACAGCGATACCTGttt	0.333													16	33					0	0	1	0	0	A	22951198	G	A	22951198	2	1	221	1	0	0	0	0	0	0	0	1	18246	1048	37	1		1	ZNF99	19	22951198	Silent	SNP	G	TCGA-J4-A67K-01A-21D-A30E-08	8788256	22951198	36177785	32	10374											
FUT1	2523	broad.mit.edu	37	chr19	49253917	49253917	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggtgcgcgggcggtcccCtgtgcggcccaggcggagct	5	5	18	13	5	0	0	0	0	0	0	1	1	1	1	3	6	3	1	3	6	1	0			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr19:49253917C>T	ENST00000310160.3	-	4	1596	c.622G>A	c.(622-624)Ggg>Agg	p.G208R		NM_000148.3	NP_000139.1	P19526	FUT1_HUMAN	fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)	208					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		GGGCGGTCCCCTGTGCGGCCC	0.667													11	257					0	0	1	0	0	T	49253917	C	T	49253917	3	4	221	1	0	0	0	0	1	0	0	0	6136	681	24	2	479	2	FUT1	19	49253917	Missense_Mutation	SNP	C	TCGA-J4-A67K-01A-21D-A30E-08	26302719	49253917	9875066	33	10375											
ZNF614	80110	broad.mit.edu	37	chr19	52520088	52520088	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggtatacagattttgtctgTtgtattagttttcagatgct	8	19	10	4	0	2	2	1	0	1	2	2	2	2	2	0	1	2	5	0	1	4	9			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr19:52520088T>C	ENST00000270649.6	-	5	1307	c.763A>G	c.(763-765)Aca>Gca	p.T255A	ZNF614_ENST00000356322.6_Intron	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	255					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		ATTTTGTCTGTTGTATTAGTT	0.353													15	53					0	0	1	0	0	C	52520088	T	C	52520088	3	2	221	1	0	0	0	0	1	0	0	0	18096	1725	60	3	998	3	ZNF614	19	52520088	Missense_Mutation	SNP	T	TCGA-J4-A67K-01A-21D-A30E-08	3266171	52520088	6608895	34	10376											
CDC25B	994	broad.mit.edu	37	chr20	3785591	3785591	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccggcgggagctctgtagcCggctgcaggaccagtgaggg	6	5	19	11	3	1	1	0	1	1	0	1	3	1	3	3	5	3	4	3	5	1	1			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr20:3785591C>T	ENST00000245960.5	+	16	2423	c.1726C>T	c.(1726-1728)Cgg>Tgg	p.R576W	CDC25B_ENST00000439880.2_Missense_Mutation_p.R562W|CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000340833.4_Missense_Mutation_p.R535W|CDC25B_ENST00000379598.5_Missense_Mutation_p.R485W|CDC25B_ENST00000344256.6_Missense_Mutation_p.R512W	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	576					cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation	cytosol|microtubule organizing center|nucleoplasm	protein binding|protein tyrosine phosphatase activity			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						GCTCTGTAGCCGGCTGCAGGA	0.672													7	78					0	0	1	0	0	T	3785591	C	T	3785591	3	4	221	1	0	0	0	0	1	0	0	0	3085	643	23	1	1788	1	CDC25B	20	3785591	Missense_Mutation	SNP	C	TCGA-J4-A67K-01A-21D-A30E-08		3785591	59239929	35	10377											
SLC24A3	57419	broad.mit.edu	37	chr20	19565661	19565661	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggggccacattcatggcagCgggaagttcggccccagagc	8	6	15	12	2	1	1	1	0	0	1	2	2	1	2	3	5	2	2	3	5	1	2			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr20:19565661C>T	ENST00000328041.6	+	5	667	c.470C>T	c.(469-471)gCg>gTg	p.A157V		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	157						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TTCATGGCAGCGGGAAGTTCG	0.547													5	98					0	0	1	0	0	T	19565661	C	T	19565661	3	4	221	1	0	0	0	0	1	0	0	0	14522	768	27	1	488	1	SLC24A3	20	19565661	Missense_Mutation	SNP	C	TCGA-J4-A67K-01A-21D-A30E-08	15780070	19565661	43459859	36	10378											
ASXL1	171023	broad.mit.edu	37	chr20	31023729	31023729	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggtgtctcgagtatgtgcgGtccgccaaaagatcccagat	9	9	13	10	3	1	2	0	0	1	2	4	3	3	2	3	2	1	1	3	2	3	1			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr20:31023729G>A	ENST00000375687.4	+	13	3638	c.3214G>A	c.(3214-3216)Gtc>Atc	p.V1072I	ASXL1_ENST00000306058.5_Missense_Mutation_p.V1067I	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	1072					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						AGTATGTGCGGTCCGCCAAAA	0.567			"F, N, Mis"		"MDS, CMML"								4	179					0	0	1	0	0	A	31023729	G	A	31023729	3	1	221	1	0	0	0	0	1	0	0	0	1065	1261	44	2	3270	2	ASXL1	20	31023729	Missense_Mutation	SNP	G	TCGA-J4-A67K-01A-21D-A30E-08	11458068	31023729	32001791	37	10379											
SLC19A1	6573	broad.mit.edu	37	chr21	46950724	46950727	+	Frame_Shift_Del	DEL	GCAC	GCAC	-																															ctggtaggagccgcggaacaGcacgaaggccgcatagcaca																										TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr21:46950724_46950727delGCAC	ENST00000311124.4	-	4	1260_1263	c.1108_1111delGTGC	c.(1108-1113)tgfs	p.VL370fs	SLC19A1_ENST00000567670.1_Frame_Shift_Del_p.VL370fs|SLC19A1_ENST00000380010.4_Frame_Shift_Del_p.VL370fs|SLC19A1_ENST00000485649.2_Frame_Shift_Del_p.VL330fs	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	370					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		CCGCGGAACAGCACGAAGGCCGCA	0.696													3	4	---	---	---	---						-	46950727	GCAC	-	46950724	7	5	221	1	0	1	0	1	0	0	0	0	14483	962	34	0	676	0	SLC19A1	21	46950724	Frame_Shift_Del	DEL	GCAC	TCGA-J4-A67K-01A-21D-A30E-08		46950724	1179171	38	10380											
PKDREJ	10343	broad.mit.edu	37	chr22	46653656	46653656	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cttgaggcttataagtaaatCcattggtactctcatctata	12	15	6	8	0	2	1	1	1	2	0	4	1	3	1	1	2	1	3	1	2	7	8			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chr22:46653656C>G	ENST00000253255.5	-	1	5563	c.5564G>C	c.(5563-5565)gGa>gCa	p.G1855A		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1855					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ATAAGTAAATCCATTGGTACT	0.388													31	121					0	0	1	0	0	G	46653656	C	G	46653656	3	3	221	1	0	0	0	0	1	0	0	0	12018	855	30	4	1201	4	PKDREJ	22	46653656	Missense_Mutation	SNP	C	TCGA-J4-A67K-01A-21D-A30E-08		46653656	4650910	39	10381											
HMGB3	3149	broad.mit.edu	37	chrX	150156360	150156360	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagaggaggaggaagaagaGgaggaggaggaggaggagga	17	0	24	0	0	0	3	0	0	0	3	0	14	0	13	0	10	0	0	0	10	3	0			TCGA-J4-A67K-01A-21D-A30E-08	TCGA-J4-A67K-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e09db6-a35c-43fc-ac1f-c5b66bb3ae2b	838d6528-8be3-48aa-887b-614a711bddf4	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443													4	37					0	0	1	0	0	A	150156360	G	A	150156360	2	1	221	1	0	0	0	0	0	0	0	1	7268	991	35	2		2	HMGB3	23	150156360	Silent	SNP	G	TCGA-J4-A67K-01A-21D-A30E-08		150156360	5114200	40	10382											
CCDC18	343099	broad.mit.edu	37	chr1	93646352	93646352	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttccacgcgcaggggccCgggaaagggtcagaggcttc	7	5	17	12	3	1	1	1	0	0	1	3	2	2	2	2	6	0	3	2	6	1	2			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr1:93646352C>G	ENST00000557479.1	+	1	433	c.265C>G	c.(265-267)Cgg>Ggg	p.R89G	CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000338949.4_5'UTR|CCDC18_ENST00000343253.7_Intron|CCDC18_ENST00000401026.3_5'UTR	NM_206886.3	NP_996769.3	Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	0										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		CGCAGGGGCCCGGGAAAGGGT	0.672													15	57					0	0	1	0	0	G	93646352	C	G	93646352	3	3	222	1	0	0	0	0	1	0	0	0	2813	643	23	4	267	4	CCDC18	1	93646352	Missense_Mutation	SNP	C	TCGA-J4-A67L-01A-11D-A30E-08		93646352	155604269	1	10383											
CD1E	913	broad.mit.edu	37	chr1	158325304	158325304	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agccttcttggtcacacctgCcctcgatttctagcggggct	5	12	10	14	2	3	0	1	0	2	0	4	1	3	0	3	3	3	1	3	3	1	4			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr1:158325304C>T	ENST00000444681.2	+	2	566	c.273C>T	c.(271-273)tgC>tgT	p.C91C	CD1E_ENST00000368163.3_Silent_p.C190C|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368160.3_Silent_p.C190C|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368161.3_Silent_p.C190C|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000434258.1_Silent_p.C188C|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000368165.3_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368167.3_Silent_p.C190C	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	190					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GTCACACCTGCCCTCGATTTC	0.507													16	41					0	0	1	0	0	T	158325304	C	T	158325304	2	4	222	1	0	0	0	0	0	0	0	1	3000	747	26	2		2	CD1E	1	158325304	Silent	SNP	C	TCGA-J4-A67L-01A-11D-A30E-08	64678952	158325304	90925317	2	10384											
ADCY10	55811	broad.mit.edu	37	chr1	167823646	167823646	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcagactccgtttgttggaaAacgagtacctcatgatgttc	10	13	9	9	2	2	2	2	1	0	1	4	4	3	3	2	1	2	4	2	1	3	4			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr1:167823646A>C	ENST00000367848.1	-	18	2474	c.1977T>G	c.(1975-1977)gtT>gtG	p.V659V	ADCY10_ENST00000367851.4_Silent_p.V751V|ADCY10_ENST00000545172.1_Silent_p.V598V			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	751					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TTTGTTGGAAAACGAGTACCT	0.443													22	96					0	0	1	0	0	C	167823646	A	C	167823646	2	2	222	1	0	0	0	0	0	0	0	1	292	1	1	5		5	ADCY10	1	167823646	Silent	SNP	A	TCGA-J4-A67L-01A-11D-A30E-08	9498342	167823646	81426975	3	10385											
PLXNB1	5364	broad.mit.edu	37	chr3	48465260	48465260	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagtagtagtgctggtccCggagacacactcgagataca	12	7	13	9	2	0	2	0	0	0	2	2	5	1	3	1	3	2	3	1	3	3	3			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr3:48465260C>T	ENST00000358536.4	-	3	1030	c.761G>A	c.(760-762)cGg>cAg	p.R254Q	PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000456774.1_Missense_Mutation_p.R254Q|PLXNB1_ENST00000296440.6_Missense_Mutation_p.R254Q|PLXNB1_ENST00000358459.4_Missense_Mutation_p.R254Q	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	254	Sema.				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GTGCTGGTCCCGGAGACACAC	0.622													10	92					0	0	1	0	0	T	48465260	C	T	48465260	3	4	222	1	0	0	0	0	1	0	0	0	12171	652	23	1	5790	1	PLXNB1	3	48465260	Missense_Mutation	SNP	C	TCGA-J4-A67L-01A-11D-A30E-08		48465260	149557170	4	10386											
CD200R1L	344807	broad.mit.edu	37	chr3	112538718	112538718	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaatgatcagtaaggacaacGctggagatcctgaggttctg	12	9	13	7	1	2	3	1	2	1	1	3	6	3	4	1	3	1	3	1	3	3	2			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr3:112538718G>A	ENST00000488794.1	-	7	1230	c.641C>T	c.(640-642)gCg>gTg	p.A214V	CD200R1L_ENST00000398214.1_Missense_Mutation_p.A235V|CD200R1L_ENST00000448932.1_Missense_Mutation_p.A214V			Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like	235	Ig-like C2-type.					integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						TAAGGACAACGCTGGAGATCC	0.373													15	50					0	0	1	0	0	A	112538718	G	A	112538718	3	1	222	1	0	0	0	0	1	0	0	0	3004	1087	38	1	119	1	CD200R1L	3	112538718	Missense_Mutation	SNP	G	TCGA-J4-A67L-01A-11D-A30E-08	64073458	112538718	85483712	5	10387											
ZNF595	152687	broad.mit.edu	37	chr4	59355	59355	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcagggatgtggccatagaAttctcccctgaagagtggaa	11	10	12	8	0	2	3	1	1	1	2	3	5	2	5	3	3	0	0	3	3	4	3			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr4:59355A>T	ENST00000509152.2	+	2	221	c.36A>T	c.(34-36)gaA>gaT	p.E12D	ZNF595_ENST00000339368.6_3'UTR|ZNF595_ENST00000526473.2_Missense_Mutation_p.E12D					zinc finger protein 595											endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		TGGCCATAGAATTCTCCCCTG	0.428													13	516					0	0	1	0	0	T	59355	A	T	59355	3	4	222	1	0	0	0	0	1	0	0	0	18082	98	4	5	42	5	ZNF595	4	59355	Missense_Mutation	SNP	A	TCGA-J4-A67L-01A-11D-A30E-08		59355	191094921	6	10388											
LPHN3	23284	broad.mit.edu	37	chr4	62758468	62758468	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggaaggagtaccaccccGtcagtgtcaggaagaagaaa	15	4	12	10	1	2	2	2	0	0	2	2	5	2	5	4	3	1	1	4	3	5	1	rs145773574	by1000genomes	TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr4:62758468G>A	ENST00000512091.1	+	9	2118	c.1371G>A	c.(1369-1371)ccG>ccA	p.P457P	LPHN3_ENST00000509896.1_Silent_p.P525P|LPHN3_ENST00000508946.1_Silent_p.P457P|LPHN3_ENST00000545650.1_Silent_p.P457P|LPHN3_ENST00000508693.1_Silent_p.P525P|LPHN3_ENST00000514591.1_Silent_p.P457P|LPHN3_ENST00000507625.1_Silent_p.P525P|LPHN3_ENST00000506746.1_Silent_p.P525P|LPHN3_ENST00000511324.1_Silent_p.P525P|LPHN3_ENST00000514996.1_Silent_p.P457P|LPHN3_ENST00000506720.1_Silent_p.P525P|LPHN3_ENST00000507164.1_Silent_p.P525P|LPHN3_ENST00000506700.1_Silent_p.P457P|LPHN3_ENST00000504896.1_Silent_p.P457P|LPHN3_ENST00000514157.1_Silent_p.P457P			Q9HAR2	LPHN3_HUMAN	latrophilin 3	457					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GTACCACCCCGTCAGTGTCAG	0.522													24	131					0	0	1	0	0	A	62758468	G	A	62758468	2	1	222	1	0	0	0	0	0	0	0	1	8962	1132	40	1		1	LPHN3	4	62758468	Silent	SNP	G	TCGA-J4-A67L-01A-11D-A30E-08	62699113	62758468	128395808	7	10389											
PRDM8	56978	broad.mit.edu	37	chr4	81123567	81123567	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaggaaagaggaaattcccGgaggaggcggcggagggcgg	13	2	20	6	4	0	1	0	0	0	1	1	6	1	6	1	9	0	0	1	9	3	1			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr4:81123567G>A	ENST00000339711.4	+	10	2182	c.951G>A	c.(949-951)ccG>ccA	p.P317P	PRDM8_ENST00000504452.1_Silent_p.P317P|PRDM8_ENST00000415738.2_Silent_p.P317P	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN	PR domain containing 8	317	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						GGAAATTCCCGGAGGAGGCGG	0.741													3	11					0	0	1	0	0	A	81123567	G	A	81123567	2	1	222	1	0	0	0	0	0	0	0	1	12514	1103	39	1		1	PRDM8	4	81123567	Silent	SNP	G	TCGA-J4-A67L-01A-11D-A30E-08	18365099	81123567	110030709	8	10390											
MRPS18C	51023	broad.mit.edu	37	chr4	84377254	84377254	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccgctgtggttgctgtttgCggtggtctagggaggaagaa	6	11	18	6	2	1	1	0	0	1	1	1	3	1	3	1	5	2	4	1	5	3	3	rs141532727	byFrequency	TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr4:84377254C>T	ENST00000295491.4	+	1	137	c.24C>T	c.(22-24)tgC>tgT	p.C8C	MRPS18C_ENST00000507349.1_Silent_p.C8C|MRPS18C_ENST00000507019.1_Silent_p.C8C	NM_016067.2	NP_057151.1	Q9Y3D5	RT18C_HUMAN	mitochondrial ribosomal protein S18C	8					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5		Hepatocellular(203;0.114)				TTGCTGTTTGCGGTGGTCTAG	0.552													5	315					0	0	1	0	0	T	84377254	C	T	84377254	2	4	222	1	0	0	0	0	0	0	0	1	9879	776	27	1		1	MRPS18C	4	84377254	Silent	SNP	C	TCGA-J4-A67L-01A-11D-A30E-08	3253687	84377254	106777022	9	10391											
EXOSC9	5393	broad.mit.edu	37	chr4	122723880	122723880	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccaaaactcaatcgggcAacagaaggtattcttttttt	12	14	6	9	1	3	1	1	0	2	1	5	1	3	1	1	2	2	2	1	2	6	5			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr4:122723880A>C	ENST00000512454.1	+	2	381	c.165A>C	c.(163-165)gcA>gcC	p.A55A	EXOSC9_ENST00000509980.1_3'UTR|EXOSC9_ENST00000243498.5_Silent_p.A71A|EXOSC9_ENST00000379663.3_Silent_p.A71A			Q06265	EXOS9_HUMAN	exosome component 9	71	ARE binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing	cytosol|nuclear exosome (RNase complex)|nucleolus|nucleus	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						TCAATCGGGCAACAGAAGGTA	0.388													19	78					0	0	1	0	0	C	122723880	A	C	122723880	2	2	222	1	0	0	0	0	0	0	0	1	5349	117	5	5		5	EXOSC9	4	122723880	Silent	SNP	A	TCGA-J4-A67L-01A-11D-A30E-08	38346626	122723880	68430396	10	10392											
ZNF827	152485	broad.mit.edu	37	chr4	146823320	146823320	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaagaaaagatgccatacctGaattggagggtttagaaact	17	9	10	5	0	0	4	0	1	0	3	0	5	0	5	2	2	3	1	2	2	7	4			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr4:146823320G>C	ENST00000508784.1	-	2	1318	c.1091C>G	c.(1090-1092)tCa>tGa	p.S364*	ZNF827_ENST00000513320.1_Intron|ZNF827_ENST00000379448.4_Nonsense_Mutation_p.S364*			Q17R98	ZN827_HUMAN	zinc finger protein 827	364					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					TGCCATACCTGAATTGGAGGG	0.448													5	39					0	0	1	0	0	C	146823320	G	C	146823320	4	2	222	1	0	0	0	0	0	1	0	0	18227	1294	45	4	2190	4	ZNF827	4	146823320	Nonsense_Mutation	SNP	G	TCGA-J4-A67L-01A-11D-A30E-08	24099440	146823320	44330956	11	10393											
WDR17	116966	broad.mit.edu	37	chr4	177071069	177071069	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgtacaaataaatattcTggcagacagatcttgggaag	14	11	9	7	0	2	2	0	0	2	2	3	3	3	3	1	2	1	2	1	2	6	5			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr4:177071069T>C	ENST00000393643.2	+	14	2261	c.2009T>C	c.(2008-2010)cTg>cCg	p.L670P	WDR17_ENST00000280190.4_Missense_Mutation_p.L694P|WDR17_ENST00000508596.1_Missense_Mutation_p.L670P|WDR17_ENST00000507824.2_Missense_Mutation_p.L677P	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	694										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		ATAAATATTCTGGCAGACAGA	0.393													4	155					0	0	1	0	0	C	177071069	T	C	177071069	3	2	222	1	0	0	0	0	1	0	0	0	17337	1580	55	3	2135	3	WDR17	4	177071069	Missense_Mutation	SNP	T	TCGA-J4-A67L-01A-11D-A30E-08	30247749	177071069	14083207	12	10394											
PCDHA6	0	broad.mit.edu	37	chr5	140209377	140209377	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgcgccggcgctgctggcGcctcgggtgggtggtactgg	3	7	19	12	6	0	0	0	0	0	0	1	0	0	0	2	6	3	3	2	6	2	1			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr5:140209377G>A	ENST00000529310.1	+	1	1815	c.1701G>A	c.(1699-1701)gcG>gcA	p.A567A	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTGCTGGCGCCTCGGGTGG	0.701													38	186					0	0	1	0	0	A	140209377	G	A	140209377	2	1	222	1	0	0	0	0	0	0	0	1	11575	1074	38	1		1	PCDHA6	5	140209377	Silent	SNP	G	TCGA-J4-A67L-01A-11D-A30E-08		140209377	40705883	13	10395											
HK3	3101	broad.mit.edu	37	chr5	176308519	176308519	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaggatggctcggacctgcCgcagggccaggctgtcactg	6	7	15	13	2	1	0	1	0	0	0	2	2	1	2	3	5	1	3	3	5	1	1			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr5:176308519C>T	ENST00000292432.5	-	18	2502	c.2411G>A	c.(2410-2412)cGg>cAg	p.R804Q		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	804	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCGGACCTGCCGCAGGGCCAG	0.637													5	37					0	0	1	0	0	T	176308519	C	T	176308519	3	4	222	1	0	0	0	0	1	0	0	0	7233	652	23	1	368	1	HK3	5	176308519	Missense_Mutation	SNP	C	TCGA-J4-A67L-01A-11D-A30E-08	36099142	176308519	4606741	14	10396											
UTRN	7402	broad.mit.edu	37	chr6	144844318	144844318	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taatagaatgtacagtgatcGgaaagggtatgtgtaaatga	16	11	12	2	1	0	3	0	2	0	1	1	4	0	4	0	2	1	3	0	2	8	5			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr6:144844318G>A	ENST00000367545.3	+	40	5900	c.5900G>A	c.(5899-5901)cGg>cAg	p.R1967Q		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1967					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	p.R1967L(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TACAGTGATCGGAAAGGGTAT	0.378													11	38					0	0	1	0	0	A	144844318	G	A	144844318	3	1	222	1	0	0	0	0	1	0	0	0	17163	1116	39	1	6058	1	UTRN	6	144844318	Missense_Mutation	SNP	G	TCGA-J4-A67L-01A-11D-A30E-08		144844318	26270749	15	10397											
GRM8	0	broad.mit.edu	37	chr7	126173392	126173392	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgggcgctgtgacagattTcttcccctgctcaaatattc	7	14	8	12	1	2	2	1	1	1	1	4	2	3	2	2	1	1	2	2	1	2	5			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr7:126173392T>C	ENST00000339582.2	-	9	2852	c.2044A>G	c.(2044-2046)Aaa>Gaa	p.K682E	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.K682E|GRM8_ENST00000444921.2_Missense_Mutation_p.K682E			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	682					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GTGACAGATTTCTTCCCCTGC	0.507										HNSCC(24;0.065)			7	91					0	0	1	0	0	C	126173392	T	C	126173392	3	2	222	1	0	0	0	0	1	0	0	0	6844	1792	62	3	744	3	GRM8	7	126173392	Missense_Mutation	SNP	T	TCGA-J4-A67L-01A-11D-A30E-08		126173392	32965271	16	10398											
NUP205	23165	broad.mit.edu	37	chr7	135300708	135300708	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agatgtcatggcttatgaaaActgcctcaatagagctaagg	14	10	10	7	0	2	3	2	1	0	2	2	3	2	3	1	2	3	2	1	2	6	3			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr7:135300708A>G	ENST00000285968.6	+	24	3381	c.3355A>G	c.(3355-3357)Act>Gct	p.T1119A		NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	1119					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GCTTATGAAAACTGCCTCAAT	0.393													17	45					0	0	1	0	0	G	135300708	A	G	135300708	3	3	222	1	0	0	0	0	1	0	0	0	10807	43	2	3	3449	3	NUP205	7	135300708	Missense_Mutation	SNP	A	TCGA-J4-A67L-01A-11D-A30E-08	9127316	135300708	23837955	17	10399											
SSPO	23145	broad.mit.edu	37	chr7	149509149	149509149	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgccagccacccccacacCtctctgctcaggccccgagg	6	5	8	22	1	2	0	1	0	1	0	3	1	2	0	8	2	3	1	8	2	0	0			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr7:149509149C>T	ENST00000378016.2	+	0	9695							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ACCCCCACACCTCTCTGCTCA	0.697													20	56					0	0	1	0	0	T	149509149	C	T	149509149	1	4	222	0	1	0	0	0	0	0	0	0	15245	681	24	2		2	SSPO	7	149509149	RNA	SNP	C	TCGA-J4-A67L-01A-11D-A30E-08	14208441	149509149	9629514	18	10400											
SDCBP	6386	broad.mit.edu	37	chr8	59490716	59490716	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagctctgataaagcgcacaAggtgctcaaacaggcttttg	12	9	11	9	1	2	1	1	1	1	0	2	2	2	1	0	2	4	4	0	2	4	3			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr8:59490716A>T	ENST00000523483.1	+	7	2101	c.587A>T	c.(586-588)aAg>aTg	p.K196M	SDCBP_ENST00000520168.1_Missense_Mutation_p.K117M|SDCBP_ENST00000447267.2_Missense_Mutation_p.K122M|SDCBP_ENST00000447182.2_Missense_Mutation_p.K175M|SDCBP_ENST00000424270.2_Missense_Mutation_p.K170M|SDCBP_ENST00000422546.2_Missense_Mutation_p.K175M|SDCBP_ENST00000260130.4_Missense_Mutation_p.K176M|SDCBP_ENST00000413219.2_Missense_Mutation_p.K176M			O00560	SDCB1_HUMAN	syndecan binding protein (syntenin)	176					actin cytoskeleton organization|axon guidance|positive regulation of phosphorylation|protein targeting to membrane|substrate-dependent cell migration, cell extension|synaptic transmission	cytoskeleton|cytosol|endoplasmic reticulum membrane|focal adhesion|interleukin-5 receptor complex|melanosome|nucleus	cytoskeletal adaptor activity|frizzled binding|interleukin-5 receptor binding|protein heterodimerization activity|protein N-terminus binding|syndecan binding			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	8		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				AAAGCGCACAAGGTGCTCAAA	0.428													19	64					0	0	1	0	0	T	59490716	A	T	59490716	3	4	222	1	0	0	0	0	1	0	0	0	14009	72	3	5	545	5	SDCBP	8	59490716	Missense_Mutation	SNP	A	TCGA-J4-A67L-01A-11D-A30E-08		59490716	86873306	19	10401											
FBXL6	26233	broad.mit.edu	37	chr8	145579796	145579796	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgtatggcaccacttctggGtcaaaaaggggctgccctcc	8	9	12	12	0	2	0	1	0	1	0	3	0	3	0	3	4	1	3	3	4	3	2			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr8:145579796G>T	ENST00000331890.5	-	8	1368	c.1304C>A	c.(1303-1305)aCc>aAc	p.T435N	FBXL6_ENST00000526524.1_Intron|FBXL6_ENST00000455319.2_Missense_Mutation_p.T429N	NM_012162.2	NP_036294.1	Q8N531	FBXL6_HUMAN	F-box and leucine-rich repeat protein 6	435					proteolysis		ubiquitin-protein ligase activity			endometrium(1)|lung(3)|ovary(1)	5	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			CCACTTCTGGGTCAAAAAGGG	0.582													4	134					0.00909568	0.00929341	1	1	0	T	145579796	G	T	145579796	3	4	222	1	0	0	0	0	1	0	0	0	5756	1261	44	4	323	4	FBXL6	8	145579796	Missense_Mutation	SNP	G	TCGA-J4-A67L-01A-11D-A30E-08	86089080	145579796	784226	20	10402											
ZFP37	7539	broad.mit.edu	37	chr9	115805634	115805634	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtatgtgttctcacatgttCggtaagagatgagttatacc	10	15	10	6	1	1	2	1	1	1	1	3	3	1	2	1	1	1	5	1	1	4	6			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr9:115805634C>T	ENST00000374227.3	-	4	1291	c.1264G>A	c.(1264-1266)Gaa>Aaa	p.E422K	ZFP37_ENST00000553380.1_Missense_Mutation_p.E437K|ZFP37_ENST00000555206.1_Missense_Mutation_p.E423K			Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	422						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CTCACATGTTCGGTAAGAGAT	0.378													18	79					0	0	1	0	0	T	115805634	C	T	115805634	3	4	222	1	0	0	0	0	1	0	0	0	17706	893	31	1	632	1	ZFP37	9	115805634	Missense_Mutation	SNP	C	TCGA-J4-A67L-01A-11D-A30E-08		115805634	25407797	21	10403											
FAM129B	64855	broad.mit.edu	37	chr9	130286023	130286023	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcctgctcggcttctgtcAtcatgcagaagtagtagtga	8	13	11	9	1	3	2	2	1	1	1	5	2	4	2	1	1	2	5	1	1	3	3			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr9:130286023A>G	ENST00000373312.3	-	5	737	c.524T>C	c.(523-525)aTg>aCg	p.M175T	FAM129B_ENST00000468379.1_Intron|FAM129B_ENST00000373314.3_Missense_Mutation_p.M162T	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	175	PH.						protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						GGCTTCTGTCATCATGCAGAA	0.607											OREG0019507	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	80					0	0	1	0	0	G	130286023	A	G	130286023	3	3	222	1	0	0	0	0	1	0	0	0	5468	217	8	3	1756	3	FAM129B	9	130286023	Missense_Mutation	SNP	A	TCGA-J4-A67L-01A-11D-A30E-08	14480389	130286023	10927408	22	10404											
ARAP1	116985	broad.mit.edu	37	chr11	72403811	72403811	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tactcacggtctcaggggccCcgctccacggcctctggctc	4	8	11	18	3	3	0	2	0	2	0	6	0	4	0	4	5	1	2	4	5	1	1			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr11:72403811C>T	ENST00000393609.3	-	30	4176	c.3974G>A	c.(3973-3975)gGg>gAg	p.G1325E	ARAP1_ENST00000455638.2_Intron|ARAP1_ENST00000359373.5_Intron|ARAP1-AS1_ENST00000542022.1_RNA|ARAP1_ENST00000495878.1_Intron|ARAP1_ENST00000429686.1_Intron|ARAP1_ENST00000426523.1_Intron|ARAP1_ENST00000334211.8_Missense_Mutation_p.G1080E|ARAP1_ENST00000393605.3_Missense_Mutation_p.G1085E	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	1325	PH 4.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CTCAGGGGCCCCGCTCCACGG	0.612													18	44					0	0	1	0	0	T	72403811	C	T	72403811	3	4	222	1	0	0	0	0	1	0	0	0	835	623	22	2	402	2	ARAP1	11	72403811	Missense_Mutation	SNP	C	TCGA-J4-A67L-01A-11D-A30E-08		72403811	62602705	23	10405											
ST8SIA1	6489	broad.mit.edu	37	chr12	22354692	22354692	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagccatagatggccacctCttcacagagacccagagctg	12	6	10	13	0	2	3	1	0	1	3	2	5	2	3	4	1	2	1	4	1	2	2			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr12:22354692C>A	ENST00000396037.4	-	5	1346	c.865G>T	c.(865-867)Gag>Tag	p.E289*	ST8SIA1_ENST00000539510.1_Nonsense_Mutation_p.E146*	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	289					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						ATGGCCACCTCTTCACAGAGA	0.512													19	80					1.67942e-08	1.75406e-08	1	1	0	A	22354692	C	A	22354692	4	1	222	1	0	0	0	0	0	1	0	0	15287	922	32	4	209	4	ST8SIA1	12	22354692	Nonsense_Mutation	SNP	C	TCGA-J4-A67L-01A-11D-A30E-08		22354692	111497203	24	10406											
NRXN3	9369	broad.mit.edu	37	chr14	79434627	79434627	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagtggacttgaatggacGcctgccagacctcatcaatg	11	9	10	11	1	3	2	3	1	0	1	3	4	3	4	3	2	1	0	3	2	2	1			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr14:79434627G>A	ENST00000554719.1	+	11	2452	c.1961G>A	c.(1960-1962)cGc>cAc	p.R654H	NRXN3_ENST00000335750.5_Missense_Mutation_p.R654H	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	260					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TTGAATGGACGCCTGCCAGAC	0.522													20	65					0	0	1	0	0	A	79434627	G	A	79434627	3	1	222	1	0	0	0	0	1	0	0	0	10715	1087	38	1	1995	1	NRXN3	14	79434627	Missense_Mutation	SNP	G	TCGA-J4-A67L-01A-11D-A30E-08		79434627	27914913	25	10407											
AQR	9716	broad.mit.edu	37	chr15	35210531	35210531	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagttggatacaaaggcaTctggttcaactgctgaatct	11	12	9	9	0	4	1	2	1	2	0	4	2	4	2	0	3	3	4	0	3	4	3			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr15:35210531T>C	ENST00000156471.5	-	15	1495	c.1270A>G	c.(1270-1272)Atg>Gtg	p.M424V		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	424						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		TACAAAGGCATCTGGTTCAAC	0.368													11	49					0	0	1	0	0	C	35210531	T	C	35210531	3	2	222	1	0	0	0	0	1	0	0	0	832	1435	50	3	3271	3	AQR	15	35210531	Missense_Mutation	SNP	T	TCGA-J4-A67L-01A-11D-A30E-08		35210531	67320861	26	10408											
SPPL2A	84888	broad.mit.edu	37	chr15	51028899	51028899	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagacagttgtacagactcaTtgctgatgctatgcagaaaa	15	10	9	7	0	1	4	1	1	0	3	1	4	1	4	0	0	4	5	0	0	5	4			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr15:51028899T>C	ENST00000261854.5	-	7	1046	c.772A>G	c.(772-774)Atg>Gtg	p.M258V		NM_032802.3	NP_116191.2	Q8TCT8	PSL2_HUMAN	signal peptide peptidase like 2A	258						integral to membrane	aspartic-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		TACAGACTCATTGCTGATGCT	0.318													4	49					0	0	1	0	0	C	51028899	T	C	51028899	3	2	222	1	0	0	0	0	1	0	0	0	15144	1493	52	3	826	3	SPPL2A	15	51028899	Missense_Mutation	SNP	T	TCGA-J4-A67L-01A-11D-A30E-08	15818368	51028899	51502493	27	10409											
METRN	79006	broad.mit.edu	37	chr16	767073	767073	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccacatgcctccccacagtaAttcacgggatcatccatggg	10	8	8	15	1	2	0	2	0	0	0	4	1	4	1	5	2	1	1	5	2	1	2			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr16:767073A>G	ENST00000568223.2	+	4	743	c.568A>G	c.(568-570)Att>Gtt	p.I190V	METRN_ENST00000568415.1_Missense_Mutation_p.I57V	NM_024042.2	NP_076947.1	Q9UJH8	METRN_HUMAN	meteorin, glial cell differentiation regulator	190										skin(1)	1		Hepatocellular(780;0.00335)				CCCCACAGTAATTCACGGGAT	0.642													19	31					0	0	1	0	0	G	767073	A	G	767073	3	3	222	1	0	0	0	0	1	0	0	0	9538	101	4	3	582	3	METRN	16	767073	Missense_Mutation	SNP	A	TCGA-J4-A67L-01A-11D-A30E-08		767073	89587680	28	10410											
RBBP6	5930	broad.mit.edu	37	chr16	24567694	24567694	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attcccagaagtttcatgatGgaagtgaaagatcctaatat	15	12	8	6	0	1	4	1	2	0	2	3	5	3	5	2	1	0	1	2	1	5	4			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr16:24567694G>C	ENST00000319715.4	+	7	1032	c.600G>C	c.(598-600)atG>atC	p.M200I	RBBP6_ENST00000381039.3_Missense_Mutation_p.M200I|RBBP6_ENST00000348022.2_Missense_Mutation_p.M200I	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	200					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		GTTTCATGATGGAAGTGAAAG	0.378													14	66					0	0	1	0	0	C	24567694	G	C	24567694	3	2	222	1	0	0	0	0	1	0	0	0	13155	1348	47	4	680	4	RBBP6	16	24567694	Missense_Mutation	SNP	G	TCGA-J4-A67L-01A-11D-A30E-08	23800621	24567694	65787059	29	10411											
GTF3C1	2975	broad.mit.edu	37	chr16	27481507	27481507	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgacatccacagaaatgAggcccagagagaagagggtc	14	5	12	10	0	0	6	0	2	0	4	3	7	2	6	3	2	0	0	3	2	2	0			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr16:27481507A>G	ENST00000356183.4	-	31	4751	c.4736T>C	c.(4735-4737)cTc>cCc	p.L1579P	GTF3C1_ENST00000561623.1_Missense_Mutation_p.L1579P	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1579						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CACAGAAATGAGGCCCAGAGA	0.542													5	219					0	0	1	0	0	G	27481507	A	G	27481507	3	3	222	1	0	0	0	0	1	0	0	0	6913	304	11	3	1621	3	GTF3C1	16	27481507	Missense_Mutation	SNP	A	TCGA-J4-A67L-01A-11D-A30E-08	2913813	27481507	62873246	30	10412											
ATP2A1	487	broad.mit.edu	37	chr16	28900188	28900188	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgccattgtaagaagcttgCcctccgtagagaccctgggc	9	9	11	12	1	0	2	0	0	0	2	1	3	1	2	4	1	3	3	4	1	3	4			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr16:28900188C>T	ENST00000395503.4	+	9	1193	c.1009C>T	c.(1009-1011)Ccc>Tcc	p.P337S	ATP2A1_ENST00000357084.3_Missense_Mutation_p.P337S|ATP2A1_ENST00000536376.1_Missense_Mutation_p.P212S	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	337					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						AAGAAGCTTGCCCTCCGTAGA	0.587													5	302					0	0	1	0	0	T	28900188	C	T	28900188	3	4	222	1	0	0	0	0	1	0	0	0	1135	739	26	2	1043	2	ATP2A1	16	28900188	Missense_Mutation	SNP	C	TCGA-J4-A67L-01A-11D-A30E-08	1418681	28900188	61454565	31	10413											
ZC3H18	124245	broad.mit.edu	37	chr16	88688650	88688650	+	Silent	SNP	G	G	C																															gaggctgccaccacggggccGcaggtgaagagagcagatga																										TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr16:88688650G>C	ENST00000301011.5	+	9	1721	c.1521G>C	c.(1519-1521)ccG>ccC	p.P507P	ZC3H18_ENST00000452588.2_Silent_p.P531P	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	507						nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CCACGGGGCCGCAGGTGAAGA	0.602													5	28					0	0	1	0	0	C	88688650	G	C	88688650	2	2	222	1	0	0	0	0	0	0	0	1	17627	1074	38	4		4	ZC3H18	16	88688650	Silent	SNP	G	TCGA-J4-A67L-01A-11D-A30E-08	59788462	88688650	1666103	32	10414	55	2									
ZC3H18	124245	broad.mit.edu	37	chr16	88688651	88688651	+	Nonsense_Mutation	SNP	C	C	T																															aggctgccaccacggggccgCaggtgaagagagcagatgag																										TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr16:88688651C>T	ENST00000301011.5	+	9	1722	c.1522C>T	c.(1522-1524)Cag>Tag	p.Q508*	ZC3H18_ENST00000452588.2_Nonsense_Mutation_p.Q532*	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	508						nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CACGGGGCCGCAGGTGAAGAG	0.602													5	28					0	0	1	0	0	T	88688651	C	T	88688651	4	4	222	1	0	0	0	0	0	1	0	0	17627	711	25	2	1552	2	ZC3H18	16	88688651	Nonsense_Mutation	SNP	C	TCGA-J4-A67L-01A-11D-A30E-08	1	88688651	1666102	33	10415	55	2									
TP53	7157	broad.mit.edu	37	chr17	7577536	7577536	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgatggtgaggatgggccTccggttcatgccgcccatgc	6	9	15	11	2	1	2	1	2	0	0	2	4	2	3	4	4	2	1	4	4	0	1			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr17:7577536T>C	ENST00000420246.2	-	7	877	c.745A>G	c.(745-747)Agg>Ggg	p.R249G	TP53_ENST00000445888.2_Missense_Mutation_p.R249G|TP53_ENST00000269305.4_Missense_Mutation_p.R249G|TP53_ENST00000413465.2_Missense_Mutation_p.R249G|TP53_ENST00000455263.2_Missense_Mutation_p.R249G|TP53_ENST00000359597.4_Missense_Mutation_p.R249G	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	249	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> I (in a sporadic cancer; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> M (in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in sporadic cancers; somatic mutation; dbSNP:rs28934571).|R -> T (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R249W(37)|p.R249G(30)|p.0?(8)|p.?(5)|p.M246_P250delMNRRP(2)|p.R249R(1)|p.R248_P250delRRP(1)|p.R249_P250delRP(1)|p.N247_R248delNR(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.G245fs*14(1)|p.R249fs*15(1)|p.R249fs*14(1)|p.R249_T256delRPILTIIT(1)|p.R249fs*19(1)|p.R249_I251delRPI(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)		AGGATGGGCCTCCGGTTCATG	0.567		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	54					0	0	1	0	0	C	7577536	T	C	7577536	3	2	222	1	0	0	0	0	1	0	0	0	16442	1550	54	3	545	3	TP53	17	7577536	Missense_Mutation	SNP	T	TCGA-J4-A67L-01A-11D-A30E-08		7577536	73617674	34	10416											
HELZ	9931	broad.mit.edu	37	chr17	65174992	65174992	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttagaggaagaatcccaacGtttagctgtggttactagct	11	12	10	8	1	0	2	0	0	0	2	1	3	1	3	1	2	4	4	1	2	7	5			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr17:65174992G>A	ENST00000358691.5	-	13	1379	c.1213C>T	c.(1213-1215)Cgt>Tgt	p.R405C	HELZ_ENST00000580168.1_Missense_Mutation_p.R405C	NM_014877.3	NP_055692.2			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					GAATCCCAACGTTTAGCTGTG	0.348													13	92					0	0	1	0	0	A	65174992	G	A	65174992	3	1	222	1	0	0	0	0	1	0	0	0	7090	1145	40	1	4699	1	HELZ	17	65174992	Missense_Mutation	SNP	G	TCGA-J4-A67L-01A-11D-A30E-08	57597456	65174992	16020218	35	10417											
CDH2	1000	broad.mit.edu	37	chr18	25565628	25565628	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaattggggtctggagtttcGcaagtctctgcctcttgagg	6	13	14	8	1	3	1	0	1	3	0	5	3	3	2	1	4	1	2	1	4	2	3			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr18:25565628G>A	ENST00000269141.3	-	12	2262	c.1839C>T	c.(1837-1839)tgC>tgT	p.C613C	CDH2_ENST00000399380.3_Silent_p.C582C	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	613	Cadherin 5.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTGGAGTTTCGCAAGTCTCTG	0.408													4	62					0	0	1	0	0	A	25565628	G	A	25565628	2	1	222	1	0	0	0	0	0	0	0	1	3127	1079	38	1		1	CDH2	18	25565628	Silent	SNP	G	TCGA-J4-A67L-01A-11D-A30E-08		25565628	52511620	36	10418											
GMIP	51291	broad.mit.edu	37	chr19	19748340	19748340	+	Frame_Shift_Del	DEL	C	C	-																															ggggccacgctctgcctgcgCcccccgcagcccgaagagac																										TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr19:19748340delC	ENST00000203556.4	-	11	1095	c.958delG	c.(958-960)cgfs	p.A320fs	GMIP_ENST00000445806.2_Frame_Shift_Del_p.A320fs|GMIP_ENST00000587238.1_Frame_Shift_Del_p.A320fs	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	320					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TCTGCCTGCGCCCCCCGCAGC	0.741													2	4	---	---	---	---						-	19748340	C	-	19748340	7	5	222	1	0	1	0	1	0	0	0	0	6533	739	26	0	1998	0	GMIP	19	19748340	Frame_Shift_Del	DEL	C	TCGA-J4-A67L-01A-11D-A30E-08		19748340	39380643	37	10419											
ZNF253	56242	broad.mit.edu	37	chr19	20002792	20002792	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcctcaaaccttactacaCataagaaaattcatactgga	17	10	4	10	0	2	1	2	0	0	1	3	2	3	2	2	1	4	0	2	1	7	5			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr19:20002792C>T	ENST00000589717.1	+	4	828	c.736C>T	c.(736-738)Cat>Tat	p.H246Y	ZNF253_ENST00000355650.4_Missense_Mutation_p.H170Y	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	246				Missing (in Ref. 1; AAC26844).	negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCTTACTACACATAAGAAAAT	0.398													9	83					0	0	1	0	0	T	20002792	C	T	20002792	3	4	222	1	0	0	0	0	1	0	0	0	17855	478	17	2	750	2	ZNF253	19	20002792	Missense_Mutation	SNP	C	TCGA-J4-A67L-01A-11D-A30E-08	254452	20002792	39126191	38	10420											
PSG3	5671	broad.mit.edu	37	chr19	43233351	43233351	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagagcaagcatagagcccGctatgctttgtagtaatctg	12	10	10	9	1	1	2	0	0	1	2	1	2	1	2	1	0	4	6	1	0	5	5			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr19:43233351G>A	ENST00000327495.5	-	5	1351	c.1167C>T	c.(1165-1167)agC>agT	p.S389S	PSG3_ENST00000595140.1_Silent_p.S389S	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	389	Ig-like C2-type 3.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				CATAGAGCCCGCTATGCTTTG	0.468													5	378					0	0	1	0	0	A	43233351	G	A	43233351	2	1	222	1	0	0	0	0	0	0	0	1	12705	1078	38	1		1	PSG3	19	43233351	Silent	SNP	G	TCGA-J4-A67L-01A-11D-A30E-08	23230559	43233351	15895632	39	10421											
ZNF528	84436	broad.mit.edu	37	chr19	52919156	52919156	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacggttcatactggtgagAaaccttacaaatgtgaagaa	17	9	9	6	1	1	3	1	2	0	2	1	4	1	3	1	2	4	1	1	2	7	3			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr19:52919156A>G	ENST00000360465.3	+	7	1477	c.1051A>G	c.(1051-1053)Aaa>Gaa	p.K351E	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	351					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		TACTGGTGAGAAACCTTACAA	0.388													16	68					0	0	1	0	0	G	52919156	A	G	52919156	3	3	222	1	0	0	0	0	1	0	0	0	18026	247	9	3	1065	3	ZNF528	19	52919156	Missense_Mutation	SNP	A	TCGA-J4-A67L-01A-11D-A30E-08	9685805	52919156	6209827	40	10422											
NLRP4	147945	broad.mit.edu	37	chr19	56379186	56379186	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaaccagttagacacaggCgtgccccttttgtgtgaagc	9	10	11	11	1	0	2	0	1	0	1	0	2	0	2	3	1	4	2	3	1	3	3			TCGA-J4-A67L-01A-11D-A30E-08	TCGA-J4-A67L-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7657dad4-c2db-417a-a77c-4de308ef3f61	046e13f7-4c6e-4ee1-97c8-8adf4fa21c42	g.chr19:56379186C>T	ENST00000301295.6	+	6	2720	c.2298C>T	c.(2296-2298)ggC>ggT	p.G766G	NLRP4_ENST00000587891.1_Silent_p.G691G|NLRP4_ENST00000346986.5_Intron	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	766							ATP binding	p.G766G(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TAGACACAGGCGTGCCCCTTT	0.542													5	102					0	0	1	0	0	T	56379186	C	T	56379186	2	4	222	1	0	0	0	0	0	0	0	1	10526	755	27	1		1	NLRP4	19	56379186	Silent	SNP	C	TCGA-J4-A67L-01A-11D-A30E-08	3460030	56379186	2749797	41	10423											
SGIP1	84251	broad.mit.edu	37	chr1	67148041	67148041	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggctcgggccctggtccggGgaccaccagtggtatgtctt	4	10	15	12	2	1	0	0	0	1	0	3	1	2	1	4	6	0	2	4	6	1	2			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr1:67148041G>A	ENST00000371037.4	+	15	1381	c.1304G>A	c.(1303-1305)gGg>gAg	p.G435E	SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000237247.6_Missense_Mutation_p.G439E	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	435	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						CCTGGTCCGGGGACCACCAGT	0.607													53	271					0	0	1	0	0	A	67148041	G	A	67148041	3	1	223	1	0	0	0	0	1	0	0	0	14260	1232	43	2	1362	2	SGIP1	1	67148041	Missense_Mutation	SNP	G	TCGA-J4-A67M-01A-11D-A30E-08		67148041	182102580	1	10424											
OR10J5	127385	broad.mit.edu	37	chr1	159505651	159505651	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggagatgatggtcaatgcaGatgatagtcacaatgatgat	14	11	12	4	0	2	6	2	4	0	2	2	7	2	6	0	2	1	1	0	2	3	1			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr1:159505651G>A	ENST00000334857.2	-	1	191	c.147C>T	c.(145-147)atC>atT	p.I49I		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					GGTCAATGCAGATGATAGTCA	0.418													27	114					0	0	1	0	0	A	159505651	G	A	159505651	2	1	223	1	0	0	0	0	0	0	0	1	10960	932	33	2		2	OR10J5	1	159505651	Silent	SNP	G	TCGA-J4-A67M-01A-11D-A30E-08	92357610	159505651	89744970	2	10425											
C2orf48	348738	broad.mit.edu	37	chr2	10350627	10350627	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accaagaatgcacagagggcGctgggctccaagcttcagca	12	5	12	12	1	1	2	1	0	0	2	2	2	2	2	2	2	3	5	2	2	3	1			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr2:10350627G>A	ENST00000381786.3	+	4	673	c.384G>A	c.(382-384)gcG>gcA	p.A128A		NM_182626.2	NP_872432.1	Q96LS8	CB048_HUMAN	chromosome 2 open reading frame 48	128										endometrium(1)|lung(7)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)		CACAGAGGGCGCTGGGCTCCA	0.582													4	146					0	0	1	0	0	A	10350627	G	A	10350627	2	1	223	1	0	0	0	0	0	0	0	1	2184	1074	38	1		1	C2orf48	2	10350627	Silent	SNP	G	TCGA-J4-A67M-01A-11D-A30E-08		10350627	232848746	3	10426											
KCNF1	3754	broad.mit.edu	37	chr2	11053086	11053086	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggagaagcccgagtcgtcGtgcccggcgcgggtggtggc	4	6	19	12	6	0	1	0	0	0	1	2	3	0	1	2	5	2	0	2	5	1	0			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr2:11053086G>A	ENST00000295082.1	+	1	1024	c.534G>A	c.(532-534)tcG>tcA	p.S178S		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	178						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		CCGAGTCGTCGTGCCCGGCGC	0.682													5	84					0	0	1	0	0	A	11053086	G	A	11053086	2	1	223	1	0	0	0	0	0	0	0	1	8070	1132	40	1		1	KCNF1	2	11053086	Silent	SNP	G	TCGA-J4-A67M-01A-11D-A30E-08	702459	11053086	232146287	4	10427											
DHX57	90957	broad.mit.edu	37	chr2	39053764	39053764	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aatcttagttactcctgcagGaggttttacaaacacagcct	12	12	7	10	0	1	0	0	0	1	0	2	1	2	1	2	2	5	3	2	2	5	4			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr2:39053764G>A	ENST00000295373.6	-	15	2833	c.2707C>T	c.(2707-2709)Cct>Tct	p.P903S		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	903	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				ACTCCTGCAGGAGGTTTTACA	0.378													13	37					0	0	1	0	0	A	39053764	G	A	39053764	3	1	223	1	0	0	0	0	1	0	0	0	4541	1174	41	2	1493	2	DHX57	2	39053764	Missense_Mutation	SNP	G	TCGA-J4-A67M-01A-11D-A30E-08	28000678	39053764	204145609	5	10428											
ZEB2	9839	broad.mit.edu	37	chr2	145162525	145162525	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatgctgactgcatgaccaTcgcgttcctccagttttctt	6	14	8	13	3	1	2	0	2	1	0	4	3	3	2	3	0	2	4	3	0	0	4			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr2:145162525T>C	ENST00000558170.2	-	5	1654	c.470A>G	c.(469-471)gAt>gGt	p.D157G	ZEB2_ENST00000409487.3_Missense_Mutation_p.D157G|ZEB2_ENST00000303660.4_Missense_Mutation_p.D157G|ZEB2_ENST00000539609.3_Missense_Mutation_p.D133G	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	157						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TGCATGACCATCGCGTTCCTC	0.468													10	42					0	0	1	0	0	C	145162525	T	C	145162525	3	2	223	1	0	0	0	0	1	0	0	0	17682	1435	50	3	3198	3	ZEB2	2	145162525	Missense_Mutation	SNP	T	TCGA-J4-A67M-01A-11D-A30E-08	106108761	145162525	98036848	6	10429											
TTN	7273	broad.mit.edu	37	chr2	179476111	179476111	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcttacagtctgggtcttTggcaaccacattttcagaga	9	13	9	10	0	4	1	1	0	3	1	4	2	4	1	1	2	2	2	1	2	2	4			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr2:179476111T>C	ENST00000589042.1	-	269	51069	c.50845A>G	c.(50845-50847)Aaa>Gaa	p.K16949E	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K14381E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K8009E|TTN_ENST00000342175.6_Missense_Mutation_p.K8076E|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K15308E|TTN_ENST00000460472.2_Missense_Mutation_p.K7884E|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15308	Fibronectin type-III 23.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTGGGTCTTTGGCAACCACA	0.383													4	68					0	0	1	0	0	C	179476111	T	C	179476111	3	2	223	1	0	0	0	0	1	0	0	0	16797	1821	63	3	57224	3	TTN	2	179476111	Missense_Mutation	SNP	T	TCGA-J4-A67M-01A-11D-A30E-08	34313586	179476111	63723262	7	10430											
RUFY4	285180	broad.mit.edu	37	chr2	218940309	218940309	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcagggagcaggcaggggtCggggggctctagcatcctgg	7	6	19	9	1	2	0	1	0	1	0	4	1	3	1	1	8	2	4	1	8	1	1			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr2:218940309C>T	ENST00000374155.3	+	8	1564	c.1154C>T	c.(1153-1155)tCg>tTg	p.S385L	RUFY4_ENST00000463872.1_3'UTR|RUFY4_ENST00000344321.7_Missense_Mutation_p.S365L|RUFY4_ENST00000441828.2_3'UTR			Q6ZNE9	RUFY4_HUMAN	RUN and FYVE domain containing 4	365							metal ion binding			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AGGCAGGGGTCGGGGGGCTCT	0.592													7	40					0	0	1	0	0	T	218940309	C	T	218940309	3	4	223	1	0	0	0	0	1	0	0	0	13793	893	31	1	1120	1	RUFY4	2	218940309	Missense_Mutation	SNP	C	TCGA-J4-A67M-01A-11D-A30E-08	39464198	218940309	24259064	8	10431											
ALPPL2	251	broad.mit.edu	37	chr2	233271853	233271853	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagcctgcacagacagccGccaagaacctcatcatcttc	11	7	7	16	1	3	2	2	0	1	2	4	2	3	2	4	0	5	2	4	0	2	1			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr2:233271853G>A	ENST00000295453.3	+	2	206	c.154G>A	c.(154-156)Gcc>Acc	p.A52T		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	52					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	ACAGACAGCCGCCAAGAACCT	0.677													18	199					0	0	1	0	0	A	233271853	G	A	233271853	3	1	223	1	0	0	0	0	1	0	0	0	545	1087	38	1	160	1	ALPPL2	2	233271853	Missense_Mutation	SNP	G	TCGA-J4-A67M-01A-11D-A30E-08	14331544	233271853	9927520	9	10432											
NDUFA10	4705	broad.mit.edu	37	chr2	240961655	240961655	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatattgccatctacagttaTcactctgctgcgttctgtca	8	16	6	11	1	5	0	2	0	3	0	5	0	5	0	1	0	4	3	1	0	4	6			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr2:240961655T>C	ENST00000252711.2	-	2	278	c.178A>G	c.(178-180)Ata>Gta	p.I60V	NDUFA10_ENST00000404554.1_Missense_Mutation_p.I60V|NDUFA10_ENST00000307300.4_Missense_Mutation_p.I60V|NDUFA10_ENST00000407129.3_Missense_Mutation_p.I60V	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	60					mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	NADH(DB00157)	TCTACAGTTATCACTCTGCTG	0.393													13	62					0	0	1	0	0	C	240961655	T	C	240961655	3	2	223	1	0	0	0	0	1	0	0	0	10307	1435	50	3	925	3	NDUFA10	2	240961655	Missense_Mutation	SNP	T	TCGA-J4-A67M-01A-11D-A30E-08	7689802	240961655	2237718	10	10433											
DNAJB8	165721	broad.mit.edu	37	chr3	128182004	128182004	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttcttgtcggggtgccaacGaagggccagcttgcggtagg	6	9	17	9	3	1	0	0	0	1	0	2	1	1	0	2	5	4	3	2	5	3	4			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr3:128182004G>A	ENST00000469083.1	-	2	2642	c.85C>T	c.(85-87)Cgt>Tgt	p.R29C	DNAJB8_ENST00000319153.3_Missense_Mutation_p.R29C			Q8NHS0	DNJB8_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 8	29	J.				protein folding		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		GGGTGCCAACGAAGGGCCAGC	0.577													38	182					0	0	1	0	0	A	128182004	G	A	128182004	3	1	223	1	0	0	0	0	1	0	0	0	4653	1058	37	1	617	1	DNAJB8	3	128182004	Missense_Mutation	SNP	G	TCGA-J4-A67M-01A-11D-A30E-08		128182004	69840426	11	10434											
GP5	2814	broad.mit.edu	37	chr3	194118797	194118797	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggcgctgcaggacggtcatgCcgctgaagctctggctctgc	5	8	15	13	3	3	1	1	1	2	0	3	2	3	2	1	4	4	5	1	4	1	0			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr3:194118797C>T	ENST00000401815.1	-	1	286	c.215G>A	c.(214-216)gGc>gAc	p.G72D	GP5_ENST00000323007.3_Missense_Mutation_p.G72D			P40197	GPV_HUMAN	glycoprotein V (platelet)	72					blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		GACGGTCATGCCGCTGAAGCT	0.632													4	137					0	0	1	0	0	T	194118797	C	T	194118797	3	4	223	1	0	0	0	0	1	0	0	0	6623	739	26	2	1471	2	GP5	3	194118797	Missense_Mutation	SNP	C	TCGA-J4-A67M-01A-11D-A30E-08	65936793	194118797	3903633	12	10435											
ZNF721	170960	broad.mit.edu	37	chr4	435941	435941	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttccagtatgaattttcTcatgtctattcaggtgtgag	8	18	8	7	0	4	2	2	2	3	0	6	2	5	2	1	1	0	1	1	1	3	6			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr4:435941T>A	ENST00000338977.5	-	2	2327	c.2279A>T	c.(2278-2280)gAg>gTg	p.E760V	ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_Missense_Mutation_p.E772V|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000507078.1_Intron					zinc finger protein 721											endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						ATGAATTTTCTCATGTCTATT	0.353													6	24					0	0	1	0	0	A	435941	T	A	435941	3	1	223	1	0	0	0	0	1	0	0	0	18176	1551	54	5	460	5	ZNF721	4	435941	Missense_Mutation	SNP	T	TCGA-J4-A67M-01A-11D-A30E-08		435941	190718335	13	10436											
LPHN3	23284	broad.mit.edu	37	chr4	62903476	62903476	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagagtatgggaaatgcctgCgaacacattgctgtagtggc	12	9	13	7	1	0	1	0	0	0	1	0	3	0	2	1	2	4	3	1	2	5	3			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr4:62903476C>T	ENST00000512091.1	+	23	4162	c.3415C>T	c.(3415-3417)Cga>Tga	p.R1139*	LPHN3_ENST00000514157.1_Nonsense_Mutation_p.R1130*|LPHN3_ENST00000545650.1_Nonsense_Mutation_p.R1139*|LPHN3_ENST00000506746.1_Nonsense_Mutation_p.R1198*|LPHN3_ENST00000506720.1_Nonsense_Mutation_p.R1207*|LPHN3_ENST00000504896.1_Nonsense_Mutation_p.R1139*|LPHN3_ENST00000509896.1_Nonsense_Mutation_p.R1207*|LPHN3_ENST00000506700.1_Nonsense_Mutation_p.R1130*|LPHN3_ENST00000508946.1_Nonsense_Mutation_p.R1139*|LPHN3_ENST00000508693.1_Nonsense_Mutation_p.R1207*|LPHN3_ENST00000514996.1_Nonsense_Mutation_p.R1130*|LPHN3_ENST00000507164.1_Nonsense_Mutation_p.R1198*|LPHN3_ENST00000507625.1_Nonsense_Mutation_p.R1198*|LPHN3_ENST00000514591.1_Nonsense_Mutation_p.R1139*|LPHN3_ENST00000511324.1_Nonsense_Mutation_p.R1198*			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1117					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GAAATGCCTGCGAACACATTG	0.423													7	84					0	0	1	0	0	T	62903476	C	T	62903476	4	4	223	1	0	0	0	0	0	1	0	0	8962	760	27	1	3497	1	LPHN3	4	62903476	Nonsense_Mutation	SNP	C	TCGA-J4-A67M-01A-11D-A30E-08	62467535	62903476	128250800	14	10437											
HCN1	348980	broad.mit.edu	37	chr5	45262467	45262467	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgtggctgagtctgcggCggctgggactgctgtacctg	3	11	17	10	2	1	1	0	1	1	0	1	2	1	2	1	4	4	5	1	4	1	1	rs143994644	by1000genomes	TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr5:45262467C>T	ENST00000303230.4	-	8	2286	c.2229G>A	c.(2227-2229)ccG>ccA	p.P743P		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	743	Gln-rich.					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.P743P(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						gagtctgcggcggctgggact	0.637													9	66					0	0	1	0	0	T	45262467	C	T	45262467	2	4	223	1	0	0	0	0	0	0	0	1	7037	755	27	1		1	HCN1	5	45262467	Silent	SNP	C	TCGA-J4-A67M-01A-11D-A30E-08		45262467	135652793	15	10438											
HMGCR	3156	broad.mit.edu	37	chr5	74641424	74641424	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctttgccctttttcctacttTtgattgacctttccagagca	6	18	5	12	0	0	3	0	2	0	1	2	3	2	3	4	0	3	1	4	0	1	8			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr5:74641424T>C	ENST00000287936.4	+	5	547	c.391T>C	c.(391-393)Ttg>Ctg	p.L131L	HMGCR_ENST00000511206.1_Silent_p.L131L|HMGCR_ENST00000343975.5_Silent_p.L131L	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	131					cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	TTTCCTACTTTTGATTGACCT	0.318													8	60					0	0	1	0	0	C	74641424	T	C	74641424	2	2	223	1	0	0	0	0	0	0	0	1	7272	1838	64	3		3	HMGCR	5	74641424	Silent	SNP	T	TCGA-J4-A67M-01A-11D-A30E-08	29378957	74641424	106273836	16	10439											
SLCO6A1	133482	broad.mit.edu	37	chr5	101795412	101795412	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attaatgtacaccatgcaacGacagcggcaaaaagaaaatt	19	7	7	8	2	0	1	0	0	0	1	0	2	0	1	1	1	4	3	1	1	7	3			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr5:101795412G>A	ENST00000506729.1	-	5	1140	c.969C>T	c.(967-969)gtC>gtT	p.V323V	SLCO6A1_ENST00000379807.3_Silent_p.V323V|SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000389019.3_Silent_p.V261V|SLCO6A1_ENST00000513675.1_Intron|SLCO6A1_ENST00000514551.1_5'UTR			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	323						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		ACCATGCAACGACAGCGGCAA	0.338													12	53					0	0	1	0	0	A	101795412	G	A	101795412	2	1	223	1	0	0	0	0	0	0	0	1	14787	1045	37	1		1	SLCO6A1	5	101795412	Silent	SNP	G	TCGA-J4-A67M-01A-11D-A30E-08	27153988	101795412	79119848	17	10440											
GRIA1	0	broad.mit.edu	37	chr5	153144022	153144022	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtcgcatcgttggtggcGtctggtggttcttcacctta	3	15	13	10	3	3	0	1	0	2	0	5	0	3	0	1	5	0	3	1	5	1	4			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr5:153144022G>A	ENST00000285900.5	+	12	2195	c.1852G>A	c.(1852-1854)Gtc>Atc	p.V618I	GRIA1_ENST00000518142.1_Missense_Mutation_p.V538I|GRIA1_ENST00000521843.2_Missense_Mutation_p.V549I|GRIA1_ENST00000448073.4_Missense_Mutation_p.V628I|GRIA1_ENST00000340592.5_Missense_Mutation_p.V618I|GRIA1_ENST00000518783.1_Missense_Mutation_p.V628I	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	618					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	p.V618I(1)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CGTTGGTGGCGTCTGGTGGTT	0.552													21	57					0	0	1	0	0	A	153144022	G	A	153144022	3	1	223	1	0	0	0	0	1	0	0	0	6808	1145	40	1	1898	1	GRIA1	5	153144022	Missense_Mutation	SNP	G	TCGA-J4-A67M-01A-11D-A30E-08	51348610	153144022	27771238	18	10441											
SYNE1	23345	broad.mit.edu	37	chr6	152776617	152776617	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcctccaggccctcctgagCaatccgcagtaccttctcca	7	10	6	18	1	1	1	0	1	1	0	6	1	5	1	7	1	2	3	7	1	2	3			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr6:152776617C>A	ENST00000367255.5	-	24	3437	c.2836G>T	c.(2836-2838)Gct>Tct	p.A946S	SYNE1_ENST00000495090.2_Missense_Mutation_p.A513S|SYNE1_ENST00000367253.4_Missense_Mutation_p.A946S|SYNE1_ENST00000341594.5_Missense_Mutation_p.A1012S|SYNE1_ENST00000367248.3_Missense_Mutation_p.A936S|SYNE1_ENST00000423061.1_Missense_Mutation_p.A953S|SYNE1_ENST00000413186.2_Missense_Mutation_p.A946S|SYNE1_ENST00000448038.1_Missense_Mutation_p.A953S|SYNE1_ENST00000265368.4_Missense_Mutation_p.A946S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	946					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCCTCCTGAGCAATCCGCAGT	0.512										HNSCC(10;0.0054)			16	76					0.000308642	0.000318287	1	1	0	A	152776617	C	A	152776617	3	1	223	1	0	0	0	0	1	0	0	0	15502	710	25	4	24122	4	SYNE1	6	152776617	Missense_Mutation	SNP	C	TCGA-J4-A67M-01A-11D-A30E-08		152776617	18338450	19	10442											
ABCB1	5243	broad.mit.edu	37	chr7	87165839	87165839	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccagtggtgtttttagggtCatcaaaccaactcacatcct	10	13	7	11	0	3	0	3	0	0	0	5	0	5	0	3	2	2	1	3	2	3	3			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr7:87165839C>T	ENST00000265724.3	-	21	2833	c.2416G>A	c.(2416-2418)Gac>Aac	p.D806N	ABCB1_ENST00000543898.1_Missense_Mutation_p.D742N	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	806	ABC transmembrane type-1 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TTTTTAGGGTCATCAAACCAA	0.453													10	46					0	0	1	0	0	T	87165839	C	T	87165839	3	4	223	1	0	0	0	0	1	0	0	0	40	826	29	2	1462	2	ABCB1	7	87165839	Missense_Mutation	SNP	C	TCGA-J4-A67M-01A-11D-A30E-08		87165839	71972824	20	10443											
PDIA4	9601	broad.mit.edu	37	chr7	148701024	148701024	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggggcgaagtagatggtgggGaagccctccaccttatagcg	9	7	16	9	2	0	1	0	0	0	1	1	3	1	2	3	5	2	1	3	5	5	3			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr7:148701024G>A	ENST00000286091.4	-	10	2032	c.1800C>T	c.(1798-1800)ttC>ttT	p.F600F		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	600	Thioredoxin 3.				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			AGATGGTGGGGAAGCCCTCCA	0.542													8	80					0	0	1	0	0	A	148701024	G	A	148701024	2	1	223	1	0	0	0	0	0	0	0	1	11717	1165	41	2		2	PDIA4	7	148701024	Silent	SNP	G	TCGA-J4-A67M-01A-11D-A30E-08	61535185	148701024	10437639	21	10444											
MMP16	4325	broad.mit.edu	37	chr8	89068388	89068388	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaaataggttttcccgacGtcctcccaccaaatggctga	12	9	8	12	2	0	2	0	1	0	1	3	3	3	2	4	2	0	2	4	2	4	3			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr8:89068388G>A	ENST00000286614.6	-	8	1622	c.1341C>T	c.(1339-1341)gaC>gaT	p.D447D		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	447	Hemopexin-like 3.				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						TTTTCCCGACGTCCTCCCACC	0.413													27	66					0	0	1	0	0	A	89068388	G	A	89068388	2	1	223	1	0	0	0	0	0	0	0	1	9703	1136	40	1		1	MMP16	8	89068388	Silent	SNP	G	TCGA-J4-A67M-01A-11D-A30E-08		89068388	57295634	22	10445											
PIGO	84720	broad.mit.edu	37	chr9	35093455	35093455	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaagactgctgtggggctaTacagaaagagagcagctgag	13	6	16	6	0	0	4	0	1	0	3	0	6	0	5	0	3	4	4	0	3	4	2			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr9:35093455T>C	ENST00000378617.3	-	5	1296	c.902A>G	c.(901-903)tAt>tGt	p.Y301C	PIGO_ENST00000341666.3_Missense_Mutation_p.Y301C|PIGO_ENST00000298004.5_Missense_Mutation_p.Y301C|PIGO_ENST00000361778.2_Missense_Mutation_p.Y301C	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	301					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TGTGGGGCTATACAGAAAGAG	0.547													14	54					0	0	1	0	0	C	35093455	T	C	35093455	3	2	223	1	0	0	0	0	1	0	0	0	11942	1406	49	3	2395	3	PIGO	9	35093455	Missense_Mutation	SNP	T	TCGA-J4-A67M-01A-11D-A30E-08		35093455	106119976	23	10446											
CTNNAL1	8727	broad.mit.edu	37	chr9	111745457	111745457	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aattccagtaaaaatactgaTagatgaaatgtcagtctctc	16	12	6	7	0	2	3	1	2	1	1	5	3	3	3	1	0	1	1	1	0	7	4			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr9:111745457T>C	ENST00000374595.4	-	6	947	c.868A>G	c.(868-870)Atc>Gtc	p.I290V	CTNNAL1_ENST00000325580.6_Missense_Mutation_p.I290V|CTNNAL1_ENST00000325551.4_Missense_Mutation_p.I290V			Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	290					cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		AAAATACTGATAGATGAAATG	0.279													5	46					0	0	1	0	0	C	111745457	T	C	111745457	3	2	223	1	0	0	0	0	1	0	0	0	4039	1406	49	3	1392	3	CTNNAL1	9	111745457	Missense_Mutation	SNP	T	TCGA-J4-A67M-01A-11D-A30E-08	76652002	111745457	29467974	24	10447											
UPF2	26019	broad.mit.edu	37	chr10	12046639	12046639	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggttctcataaaaattcCgagcatcttcatcttcccat	11	14	5	11	1	4	1	2	1	3	0	7	2	6	1	2	1	1	2	2	1	3	5			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr10:12046639C>T	ENST00000356352.2	-	4	1867	c.1394G>A	c.(1393-1395)cGg>cAg	p.R465Q	UPF2_ENST00000357604.5_Missense_Mutation_p.R465Q|UPF2_ENST00000397053.2_Missense_Mutation_p.R465Q			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	465					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				ATAAAAATTCCGAGCATCTTC	0.363													8	77					0	0	1	0	0	T	12046639	C	T	12046639	3	4	223	1	0	0	0	0	1	0	0	0	17064	652	23	1	2496	1	UPF2	10	12046639	Missense_Mutation	SNP	C	TCGA-J4-A67M-01A-11D-A30E-08		12046639	123488108	25	10448											
UNC5B	219699	broad.mit.edu	37	chr10	73053281	73053281	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgccgaagtcagtgcccGtgactggatctttcagctca	7	11	11	12	2	4	1	3	1	1	0	4	3	4	2	2	1	3	1	2	1	1	1	rs142079000		TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr10:73053281G>A	ENST00000335350.6	+	12	2308	c.1892G>A	c.(1891-1893)cGt>cAt	p.R631H	UNC5B_ENST00000373192.4_Missense_Mutation_p.R620H	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	631	ZU5.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						GTCAGTGCCCGTGACTGGATC	0.652													20	183					0	0	1	0	0	A	73053281	G	A	73053281	3	1	223	1	0	0	0	0	1	0	0	0	17052	1145	40	1	1938	1	UNC5B	10	73053281	Missense_Mutation	SNP	G	TCGA-J4-A67M-01A-11D-A30E-08	61006642	73053281	62481466	26	10449											
SAA2	6289	broad.mit.edu	37	chr11	18267020	18267020	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatcggccagcgagtcctcCgcaccacggcctgtgagtct	6	8	12	15	4	1	2	0	2	1	0	4	3	3	2	5	2	1	1	5	2	0	0			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr11:18267020C>T	ENST00000526900.1	-	4	456	c.273G>A	c.(271-273)gcG>gcA	p.A91A	SAA2_ENST00000530400.1_Intron|SAA2_ENST00000529528.1_Silent_p.A91A|SAA2_ENST00000528349.1_Intron|SAA2_ENST00000414546.2_Intron|SAA2_ENST00000256733.4_Silent_p.A91A|SAA2-SAA4_ENST00000524555.1_RNA					serum amyloid A2											central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(1)	6						GCGAGTCCTCCGCACCACGGC	0.557													20	81					0	0	1	0	0	T	18267020	C	T	18267020	2	4	223	1	0	0	0	0	0	0	0	1	13851	639	23	1		1	SAA2	11	18267020	Silent	SNP	C	TCGA-J4-A67M-01A-11D-A30E-08		18267020	116739496	27	10450											
CLEC1A	51267	broad.mit.edu	37	chr12	10223969	10223969	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtttcaggggggacatggAggctctctggcttcaccatt	7	12	13	9	0	3	0	2	0	1	0	4	2	3	2	1	6	0	3	1	6	0	3			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr12:10223969A>G	ENST00000315330.4	-	6	868	c.806T>C	c.(805-807)cTc>cCc	p.L269P	CLEC1A_ENST00000457018.2_Missense_Mutation_p.L236P|CLEC1A_ENST00000420265.2_Missense_Mutation_p.L177P	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN	C-type lectin domain family 1, member A	269					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						GGGGACATGGAGGCTCTCTGG	0.512													19	120					0	0	1	0	0	G	10223969	A	G	10223969	3	3	223	1	0	0	0	0	1	0	0	0	3528	304	11	3	40	3	CLEC1A	12	10223969	Missense_Mutation	SNP	A	TCGA-J4-A67M-01A-11D-A30E-08		10223969	123627926	28	10451											
DNAH10	196385	broad.mit.edu	37	chr12	124403289	124403289	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggctgcgggatggctacCggccagcagccaggaggggg	8	3	19	11	2	0	0	0	0	0	0	0	2	0	2	3	7	4	3	3	7	1	1			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr12:124403289C>T	ENST00000409039.3	+	64	10970	c.10945C>T	c.(10945-10947)Cgg>Tgg	p.R3649W		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3649					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GGATGGCTACCGGCCAGCAGC	0.567													5	36					0	0	1	0	0	T	124403289	C	T	124403289	3	4	223	1	0	0	0	0	1	0	0	0	4626	643	23	1	11199	1	DNAH10	12	124403289	Missense_Mutation	SNP	C	TCGA-J4-A67M-01A-11D-A30E-08	114179320	124403289	9448606	29	10452											
OR4K15	81127	broad.mit.edu	37	chr14	20444014	20444014	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgcagactttctggttgagCgcaagactatttcttttgat	8	17	9	7	1	2	4	0	2	2	2	2	4	2	4	0	1	2	3	0	1	2	7			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr14:20444014C>T	ENST00000305051.5	+	1	412	c.337C>T	c.(337-339)Cgc>Tgc	p.R113C		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTGGTTGAGCGCAAGACTAT	0.453													24	154					0	0	1	0	0	T	20444014	C	T	20444014	3	4	223	1	0	0	0	0	1	0	0	0	11118	768	27	1	339	1	OR4K15	14	20444014	Missense_Mutation	SNP	C	TCGA-J4-A67M-01A-11D-A30E-08		20444014	86905526	30	10453											
FAM96A	84191	broad.mit.edu	37	chr15	64365169	64365169	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cactgttccacaatttcccgTaagttggggttttccattgc	7	15	8	11	1	0	0	0	0	0	0	3	0	3	0	3	2	1	4	3	2	2	7			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr15:64365169T>C	ENST00000300030.3	-	5	693	c.444A>G	c.(442-444)ttA>ttG	p.L148L	FAM96A_ENST00000558779.1_5'UTR|FAM96A_ENST00000380290.3_3'UTR	NM_032231.4	NP_115607.1	Q9H5X1	FA96A_HUMAN	family with sequence similarity 96, member A	148					chromosome segregation			p.L148F(1)		kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						CAATTTCCCGTAAGTTGGGGT	0.388													17	97					0	0	1	0	0	C	64365169	T	C	64365169	2	2	223	1	0	0	0	0	0	0	0	1	5687	1635	57	3		3	FAM96A	15	64365169	Silent	SNP	T	TCGA-J4-A67M-01A-11D-A30E-08		64365169	38166223	31	10454											
WDR59	79726	broad.mit.edu	37	chr16	74955991	74955991	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccatcacagtcaccaatccaTtgctgaaaggctaaggcagg	13	7	9	12	0	2	1	2	1	0	0	3	1	3	1	3	3	1	3	3	3	3	2			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr16:74955991T>C	ENST00000262144.6	-	10	870	c.740A>G	c.(739-741)aAt>aGt	p.N247S		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	247										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						CACCAATCCATTGCTGAAAGG	0.493													4	98					0	0	1	0	0	C	74955991	T	C	74955991	3	2	223	1	0	0	0	0	1	0	0	0	17368	1493	52	3	2252	3	WDR59	16	74955991	Missense_Mutation	SNP	T	TCGA-J4-A67M-01A-11D-A30E-08		74955991	15398762	32	10455											
FMNL1	752	broad.mit.edu	37	chr17	43311099	43311099	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgcccagtgctctgtcacGtaagccccctgctcccagcc	5	10	8	18	1	2	0	1	0	1	0	3	0	3	0	5	0	5	3	5	0	1	2			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr17:43311099G>A	ENST00000331495.3	+	5	821		c.e5+1		FMNL1_ENST00000592006.1_Splice_Site|FMNL1_ENST00000328118.3_Splice_Site	NM_005892.3	NP_005883.2	O95466	FMNL_HUMAN	formin-like 1						actin cytoskeleton organization		actin binding|Rho GTPase binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						GCTCTGTCACGTAAGCCCCCT	0.622													6	68					0	0	1	0	0	A	43311099	G	A	43311099	5	1	223	1	0	0	0	0	0	0	1	0	5984	1159	40	1	504	1	FMNL1	17	43311099	Splice_Site	SNP	G	TCGA-J4-A67M-01A-11D-A30E-08		43311099	37884111	33	10456											
EMILIN2	84034	broad.mit.edu	37	chr18	2890715	2890715	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttcttcgactcacaaggaCggttcttgacctccagtctt	7	13	9	12	2	4	1	1	1	3	0	6	3	5	2	2	3	0	2	2	3	1	5	rs79649705	by1000genomes	TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr18:2890715C>T	ENST00000254528.3	+	4	749	c.590C>T	c.(589-591)aCg>aTg	p.T197M		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	197					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		CTCACAAGGACGGTTCTTGAC	0.527													13	123					0	0	1	0	0	T	2890715	C	T	2890715	3	4	223	1	0	0	0	0	1	0	0	0	5122	536	19	1	604	1	EMILIN2	18	2890715	Missense_Mutation	SNP	C	TCGA-J4-A67M-01A-11D-A30E-08		2890715	75186533	34	10457											
EPB41L3	23136	broad.mit.edu	37	chr18	5406823	5406823	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggcatcctcctgcctggCggccagtcgcacgggggagg	4	5	19	13	3	0	0	0	0	0	0	3	1	2	1	4	7	1	2	4	7	0	0			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr18:5406823C>T	ENST00000341928.2	-	16	2642	c.2302G>A	c.(2302-2304)Gcc>Acc	p.A768T	EPB41L3_ENST00000544123.1_Missense_Mutation_p.A599T|EPB41L3_ENST00000540638.2_Missense_Mutation_p.A587T|EPB41L3_ENST00000400111.3_Missense_Mutation_p.A587T|EPB41L3_ENST00000342933.3_Missense_Mutation_p.A768T|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000427684.2_Missense_Mutation_p.A40T|EPB41L3_ENST00000542146.1_Missense_Mutation_p.A40T	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	768	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	p.A768S(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TCCTGCCTGGCGGCCAGTCGC	0.532													11	87					0	0	1	0	0	T	5406823	C	T	5406823	3	4	223	1	0	0	0	0	1	0	0	0	5182	768	27	1	989	1	EPB41L3	18	5406823	Missense_Mutation	SNP	C	TCGA-J4-A67M-01A-11D-A30E-08	2516108	5406823	72670425	35	10458											
ZNF28	7576	broad.mit.edu	37	chr19	53303676	53303677	+	Frame_Shift_Del	DEL	TT	TT	-																															tgtgatttgcacctgaaaacTttgtcacattcttcacattt																										TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr19:53303676_53303677delTT	ENST00000438150.2	-	2	2155_2156	c.1262_1263delAA	c.(1261-1263)afs	p.K421fs	ZNF28_ENST00000414252.2_Frame_Shift_Del_p.K421fs|ZNF28_ENST00000457749.2_Frame_Shift_Del_p.K474fs|ZNF28_ENST00000360272.4_Frame_Shift_Del_p.K421fs			P17035	ZNF28_HUMAN	zinc finger protein 28	474					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		ACCTGAAAACTTTGTCACATTC	0.386													15	163	---	---	---	---						-	53303677	TT	-	53303676	7	5	223	1	0	1	0	1	0	0	0	0	17871	1606	56	0	738	0	ZNF28	19	53303676	Frame_Shift_Del	DEL	TT	TCGA-J4-A67M-01A-11D-A30E-08		53303676	5825307	36	10459											
SPO11	23626	broad.mit.edu	37	chr20	55914070	55914070	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaataatgtgcatctataaGtatggatctatggtaagtat	15	14	9	3	0	2	0	0	0	2	0	2	2	2	1	0	2	1	4	0	2	8	7			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr20:55914070G>A	ENST00000371263.3	+	10	979	c.870G>A	c.(868-870)aaG>aaA	p.K290K	SPO11_ENST00000345868.4_Silent_p.K252K|SPO11_ENST00000371260.4_Silent_p.K248K	NM_012444.2	NP_036576.1	Q9Y5K1	SPO11_HUMAN	SPO11 meiotic protein covalently bound to DSB	290					female gamete generation|reciprocal meiotic recombination	chromosome|nucleus	ATP binding|DNA binding|hydrolase activity			autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2)	18	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)			GCATCTATAAGTATGGATCTA	0.274								Editing and processing nucleases					4	43					0	0	1	0	0	A	55914070	G	A	55914070	2	1	223	1	0	0	0	0	0	0	0	1	15133	1020	36	2		2	SPO11	20	55914070	Silent	SNP	G	TCGA-J4-A67M-01A-11D-A30E-08		55914070	7111450	37	10460											
BAGE2	85319	broad.mit.edu	37	chr21	11038954	11038954	+	RNA	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtctgctgataatgaaaaTgatgactctgtctcagatga	13	13	9	6	0	3	6	1	5	3	1	4	6	3	6	0	0	1	1	0	0	3	1			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr21:11038954T>C	ENST00000470054.1	-	0	1249									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)		ATAATGAAAATGATGACTCTG	0.423													19	564					0	0	1	0	0	C	11038954	T	C	11038954	1	2	223	0	1	0	0	0	0	0	0	0	1290	1479	51	3		3	BAGE2	21	11038954	RNA	SNP	T	TCGA-J4-A67M-01A-11D-A30E-08		11038954	37090941	38	10461											
NCAM2	4685	broad.mit.edu	37	chr21	22804447	22804447	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgtgccatccagtccctaTggagtgaagatcatagagct	11	9	11	10	1	1	3	1	1	0	2	3	5	3	4	3	1	2	1	3	1	3	2			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr21:22804447T>A	ENST00000400546.1	+	12	1749	c.1500T>A	c.(1498-1500)taT>taA	p.Y500*	NCAM2_ENST00000284894.7_Nonsense_Mutation_p.Y358*	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	500	Fibronectin type-III 1.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		CCAGTCCCTATGGAGTGAAGA	0.448													11	58					0	0	1	0	0	A	22804447	T	A	22804447	4	1	223	1	0	0	0	0	0	1	0	0	10250	1471	51	5	1546	5	NCAM2	21	22804447	Nonsense_Mutation	SNP	T	TCGA-J4-A67M-01A-11D-A30E-08	11765493	22804447	25325448	39	10462											
SYNJ1	8867	broad.mit.edu	37	chr21	34058198	34058198	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaattcaccatctggatatcAgcagcatgttcagaagcttt	13	12	7	9	0	4	1	3	0	1	1	4	2	4	2	1	1	3	4	1	1	3	4			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr21:34058198A>G	ENST00000382499.2	-	9	1094	c.1095T>C	c.(1093-1095)gcT>gcC	p.A365A	SYNJ1_ENST00000433931.2_Silent_p.A365A|SYNJ1_ENST00000357345.3_Silent_p.A326A|SYNJ1_ENST00000322229.7_Silent_p.A326A|SYNJ1_ENST00000382491.3_Silent_p.A326A	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	326	SAC.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						TCTGGATATCAGCAGCATGTT	0.333													14	49					0	0	1	0	0	G	34058198	A	G	34058198	2	3	223	1	0	0	0	0	0	0	0	1	15509	175	7	3		3	SYNJ1	21	34058198	Silent	SNP	A	TCGA-J4-A67M-01A-11D-A30E-08	11253751	34058198	14071697	40	10463											
SNAP29	9342	broad.mit.edu	37	chr22	21213458	21213458	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gacggggaggacgaaggcgcCcggccggccccttggaggga	7	2	20	12	5	0	0	0	0	0	0	0	6	0	4	4	8	0	0	4	8	1	1			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr22:21213458C>T	ENST00000215730.6	+	1	188	c.60C>T	c.(58-60)gcC>gcT	p.A20A		NM_004782.3	NP_004773.1	O95721	SNP29_HUMAN	synaptosomal-associated protein, 29kDa	20					cellular membrane fusion|exocytosis|protein transport|vesicle targeting	cell junction|cytoplasm|nucleus|synapse|synaptosome	SNAP receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|upper_aerodigestive_tract(1)	9	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)			ACGAAGGCGCCCGGCCGGCCC	0.692													7	37					0	0	1	0	0	T	21213458	C	T	21213458	2	4	223	1	0	0	0	0	0	0	0	1	14885	610	22	2		2	SNAP29	22	21213458	Silent	SNP	C	TCGA-J4-A67M-01A-11D-A30E-08		21213458	30091108	41	10464											
EP300	2033	broad.mit.edu	37	chr22	41573205	41573205	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caggcccaaatgcttcgcagGaggatggccagcatgcagcg	10	5	14	12	2	0	0	0	0	0	0	1	2	0	2	2	4	4	4	2	4	1	1			TCGA-J4-A67M-01A-11D-A30E-08	TCGA-J4-A67M-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da36622f-b6d4-427f-b233-ed97fc76abc5	085bf8ec-1841-4a4b-81c2-3ea1da79c1ed	g.chr22:41573205G>T	ENST00000263253.7	+	31	6709	c.5490G>T	c.(5488-5490)agG>agT	p.R1830S	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1830					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TGCTTCGCAGGAGGATGGCCA	0.602			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome				13	93					5.50884e-06	5.77116e-06	1	1	0	T	41573205	G	T	41573205	3	4	223	1	0	0	0	0	1	0	0	0	5176	1165	41	4	5612	4	EP300	22	41573205	Missense_Mutation	SNP	G	TCGA-J4-A67M-01A-11D-A30E-08	20359747	41573205	9731361	42	10465											
EIF4G3	8672	broad.mit.edu	37	chr1	21329207	21329207	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagcttctgcttacttaccGgagaacgggtttgaggttgt	8	13	12	8	2	1	2	0	1	1	1	1	3	1	2	1	3	5	4	1	3	4	5			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr1:21329207G>A	ENST00000602326.1	-	5	612	c.30_splice	c.e5+1	p.P10_splice	EIF4G3_ENST00000356916.3_Splice_Site_p.P10_splice|EIF4G3_ENST00000374937.3_Splice_Site_p.P10_splice|EIF4G3_ENST00000264211.8_Splice_Site_p.P10_splice|EIF4G3_ENST00000400422.1_Splice_Site_p.P10_splice|EIF4G3_ENST00000374927.4_Splice_Site_p.P10_splice|EIF4G3_ENST00000374935.3_Splice_Site_p.P10_splice	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	10					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		CTTACTTACCGGAGAACGGGT	0.448													13	248					0	0	1	0	0	A	21329207	G	A	21329207	5	1	224	1	0	0	0	0	0	0	1	0	5066	1130	39	1	4848	1	EIF4G3	1	21329207	Splice_Site	SNP	G	TCGA-J4-A67N-01A-11D-A30E-08		21329207	227921414	1	10466											
GJA4	2701	broad.mit.edu	37	chr1	35260022	35260022	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acgtctgctatgaccaggccTtccccatctcccacatccgc	7	9	6	19	2	2	1	0	1	2	0	5	1	4	1	6	1	1	1	6	1	1	2			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr1:35260022T>G	ENST00000342280.4	+	2	296	c.208T>G	c.(208-210)Ttc>Gtc	p.F70V		NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN	gap junction protein, alpha 4, 37kDa	70					cell-cell junction assembly	integral to plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				TGACCAGGCCTTCCCCATCTC	0.607													5	112					0	0	1	0	0	G	35260022	T	G	35260022	3	3	224	1	0	0	0	0	1	0	0	0	6445	1609	56	5	210	5	GJA4	1	35260022	Missense_Mutation	SNP	T	TCGA-J4-A67N-01A-11D-A30E-08	13930815	35260022	213990599	2	10467											
SORT1	6272	broad.mit.edu	37	chr1	109867585	109867585	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cactggctggtcaggaaagaTtctgtgaagccccaaatgct	11	9	11	10	0	2	2	1	1	1	1	2	3	2	3	2	3	2	2	2	3	3	1			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr1:109867585T>G	ENST00000256637.6	-	14	1828	c.1770A>C	c.(1768-1770)gaA>gaC	p.E590D	SORT1_ENST00000538502.1_Missense_Mutation_p.E453D	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	590					endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		TCAGGAAAGATTCTGTGAAGC	0.463													22	23					0	0	1	0	0	G	109867585	T	G	109867585	3	3	224	1	0	0	0	0	1	0	0	0	14989	1490	52	5	753	5	SORT1	1	109867585	Missense_Mutation	SNP	T	TCGA-J4-A67N-01A-11D-A30E-08	74607563	109867585	139383036	3	10468											
EFEMP1	2202	broad.mit.edu	37	chr2	56104979	56104979	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctttggtggcaatatggaGggatggtacattcatctatg	10	14	12	5	0	3	0	1	0	2	0	3	2	3	2	0	5	1	2	0	5	4	5			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr2:56104979G>A	ENST00000394555.2	-	6	1097	c.662C>T	c.(661-663)cCt>cTt	p.P221L	EFEMP1_ENST00000355426.3_Missense_Mutation_p.P221L|EFEMP1_ENST00000394554.1_Missense_Mutation_p.P221L|EFEMP1_ENST00000424836.2_Intron	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	221	EGF-like 3; calcium-binding (Potential).				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GCAATATGGAGGGATGGTACA	0.408													51	115					0	0	1	0	0	A	56104979	G	A	56104979	3	1	224	1	0	0	0	0	1	0	0	0	4967	1000	35	2	843	2	EFEMP1	2	56104979	Missense_Mutation	SNP	G	TCGA-J4-A67N-01A-11D-A30E-08		56104979	187094394	4	10469											
ALMS1	7840	broad.mit.edu	37	chr2	73646386	73646386	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctggaggagggcatattgAcgcaatcagaaaatcaagta	15	8	11	7	1	3	2	2	1	1	1	3	4	3	4	0	3	0	3	0	3	6	3			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr2:73646386A>G	ENST00000264448.6	+	3	697	c.586A>G	c.(586-588)Acg>Gcg	p.T196A	ALMS1_ENST00000377715.1_Missense_Mutation_p.T196A|ALMS1_ENST00000409009.1_Missense_Mutation_p.T154A	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	196					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GGGCATATTGACGCAATCAGA	0.428													4	80					0	0	1	0	0	G	73646386	A	G	73646386	3	3	224	1	0	0	0	0	1	0	0	0	531	275	10	3	596	3	ALMS1	2	73646386	Missense_Mutation	SNP	A	TCGA-J4-A67N-01A-11D-A30E-08	17541407	73646386	169552987	5	10470											
NCAPH	23397	broad.mit.edu	37	chr2	97019969	97019969	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagaatgaccaggtatttGacatcaatgctgaagttgac	15	10	10	6	0	1	6	1	4	0	2	1	6	1	6	1	1	1	3	1	1	5	3			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr2:97019969G>T	ENST00000455200.1	+	9	1313	c.1018G>T	c.(1018-1020)Gac>Tac	p.D340Y	NCAPH_ENST00000427946.1_Missense_Mutation_p.D215Y|NCAPH_ENST00000240423.4_Missense_Mutation_p.D351Y			Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	351					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				CCAGGTATTTGACATCAATGC	0.493													56	147					1.72845e-40	1.99147e-40	1	1	0	T	97019969	G	T	97019969	3	4	224	1	0	0	0	0	1	0	0	0	10256	1290	45	4	1085	4	NCAPH	2	97019969	Missense_Mutation	SNP	G	TCGA-J4-A67N-01A-11D-A30E-08	23373583	97019969	146179404	6	10471											
SLC11A1	6556	broad.mit.edu	37	chr2	219259418	219259418	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccatcaacctctacttcgtGgtcagctatctgcccagcct	7	11	7	16	1	4	0	2	0	2	0	5	0	4	0	4	1	5	1	4	1	3	3			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr2:219259418G>T	ENST00000233202.6	+	14	1792	c.1452G>T	c.(1450-1452)gtG>gtT	p.V484V	SLC11A1_ENST00000539932.1_Silent_p.V366V	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	484					activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCTACTTCGTGGTCAGCTATC	0.612													12	121					9.31168e-06	1.02816e-05	1	1	0	T	219259418	G	T	219259418	2	4	224	1	0	0	0	0	0	0	0	1	14435	1335	47	4		4	SLC11A1	2	219259418	Silent	SNP	G	TCGA-J4-A67N-01A-11D-A30E-08	122239449	219259418	23939955	7	10472											
RBM44	375316	broad.mit.edu	37	chr2	238737984	238737984	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaattcttggagaatatacaTcaccactttcctccaaaaat	16	12	3	10	0	2	1	1	0	1	1	4	2	4	1	3	1	1	0	3	1	6	5			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr2:238737984T>A	ENST00000316997.4	+	13	2860	c.2728T>A	c.(2728-2730)Tca>Aca	p.S910T	RBM44_ENST00000409864.1_Missense_Mutation_p.S910T	NM_001080504.2	NP_001073973.2	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	909							nucleotide binding|RNA binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		AGAATATACATCACCACTTTC	0.348													7	53					0	0	1	0	0	A	238737984	T	A	238737984	3	1	224	1	0	0	0	0	1	0	0	0	13190	1435	50	5	2774	5	RBM44	2	238737984	Missense_Mutation	SNP	T	TCGA-J4-A67N-01A-11D-A30E-08	19478566	238737984	4461389	8	10473											
TRANK1	9881	broad.mit.edu	37	chr3	36873598	36873598	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccttgtccttcttgctaaaCaggaactcccagtagtgcaa	10	12	7	12	0	1	0	0	0	1	0	4	1	4	1	3	1	4	3	3	1	5	5			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr3:36873598C>A	ENST00000429976.2	-	21	7591	c.7344G>T	c.(7342-7344)ctG>ctT	p.L2448L	TRANK1_ENST00000428977.2_Silent_p.L1898L|TRANK1_ENST00000301807.6_Silent_p.L1898L			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2448					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TCTTGCTAAACAGGAACTCCC	0.507													7	119					0.00198382	0.00214576	1	1	0	A	36873598	C	A	36873598	2	1	224	1	0	0	0	0	0	0	0	1	16515	465	17	4		4	TRANK1	3	36873598	Silent	SNP	C	TCGA-J4-A67N-01A-11D-A30E-08		36873598	161148832	9	10474											
FAM53A	152877	broad.mit.edu	37	chr4	1657001	1657001	+	Frame_Shift_Del	DEL	C	C	-																															cgcactgccctcgctgctgtCcacgaagccgccgctggcgg																										TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr4:1657001delC	ENST00000308132.6	-	4	778	c.586delG	c.(586-588)acfs	p.D196fs	FAM53A_ENST00000489363.1_Frame_Shift_Del_p.D196fs|FAM53A_ENST00000472884.2_Frame_Shift_Del_p.D196fs|FAM53A_ENST00000461064.1_Frame_Shift_Del_p.D196fs	NM_001174070.1	NP_001167541.1	Q6NSI3	FA53A_HUMAN	family with sequence similarity 53, member A	196						nucleus				breast(2)|central_nervous_system(2)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		all_epithelial(65;0.206)|Breast(71;0.212)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)			TCGCTGCTGTCCACGAAGCCG	0.746													2	4	---	---	---	---						-	1657001	C	-	1657001	7	5	224	1	0	1	0	1	0	0	0	0	5615	855	30	0	618	0	FAM53A	4	1657001	Frame_Shift_Del	DEL	C	TCGA-J4-A67N-01A-11D-A30E-08		1657001	189497275	10	10475											
PPARGC1A	10891	broad.mit.edu	37	chr4	23886556	23886556	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccaaccagagcagcacacTgcaggaggcagaaaaaaaaa	20	1	9	11	0	0	2	0	0	0	2	0	3	0	3	2	2	4	4	2	2	5	0			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr4:23886556T>C	ENST00000264867.2	-	2	174		c.e2-2		PPARGC1A_ENST00000507380.1_Splice_Site	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha						androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				AGCAGCACACTGCAGGAGGCA	0.388													12	32					0	0	1	0	0	C	23886556	T	C	23886556	5	2	224	1	0	0	0	0	0	0	1	0	12345	1594	55	3	2391	3	PPARGC1A	4	23886556	Splice_Site	SNP	T	TCGA-J4-A67N-01A-11D-A30E-08	22229555	23886556	167267720	11	10476											
UGDH	7358	broad.mit.edu	37	chr4	39522980	39522980	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatatgtttacctcataaatAggaagtgtaggagaattcca	16	12	8	5	0	1	1	1	0	0	1	2	3	2	2	2	2	1	2	2	2	9	7			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr4:39522980A>G	ENST00000316423.6	-	2	495	c.153T>C	c.(151-153)ccT>ccC	p.P51P	UGDH_ENST00000515398.1_Intron|UGDH_ENST00000506179.1_Silent_p.P51P|UGDH_ENST00000507089.1_Intron|UGDH_ENST00000501493.2_Silent_p.P51P	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	51					glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity			breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27					NADH(DB00157)	CCTCATAAATAGGAAGTGTAG	0.303													13	84					0	0	1	0	0	G	39522980	A	G	39522980	2	3	224	1	0	0	0	0	0	0	0	1	17000	407	15	3		3	UGDH	4	39522980	Silent	SNP	A	TCGA-J4-A67N-01A-11D-A30E-08	15636424	39522980	151631296	12	10477											
LPHN3	23284	broad.mit.edu	37	chr4	62812714	62812714	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccagtatgaagttgggaacGgaagctttgtccacaaatca	13	9	11	8	1	1	1	1	1	0	0	2	3	2	3	2	2	2	3	2	2	5	3	rs35637502		TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr4:62812714G>A	ENST00000512091.1	+	15	3045	c.2298G>A	c.(2296-2298)acG>acA	p.T766T	LPHN3_ENST00000507625.1_Silent_p.T834T|LPHN3_ENST00000508078.1_3'UTR|LPHN3_ENST00000514591.1_Silent_p.T766T|LPHN3_ENST00000511324.1_Silent_p.T834T|LPHN3_ENST00000506746.1_Silent_p.T834T|LPHN3_ENST00000506720.1_Silent_p.T834T|LPHN3_ENST00000504896.1_Silent_p.T766T|LPHN3_ENST00000509896.1_Silent_p.T834T|LPHN3_ENST00000514996.1_Silent_p.T766T|LPHN3_ENST00000506700.1_Silent_p.T766T|LPHN3_ENST00000514157.1_Silent_p.T766T|LPHN3_ENST00000507164.1_Silent_p.T834T|LPHN3_ENST00000508946.1_Silent_p.T766T|LPHN3_ENST00000545650.1_Silent_p.T766T|LPHN3_ENST00000508693.1_Silent_p.T834T			Q9HAR2	LPHN3_HUMAN	latrophilin 3	753					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						AGTTGGGAACGGAAGCTTTGT	0.403													9	246					0	0	1	0	0	A	62812714	G	A	62812714	2	1	224	1	0	0	0	0	0	0	0	1	8962	1103	39	1		1	LPHN3	4	62812714	Silent	SNP	G	TCGA-J4-A67N-01A-11D-A30E-08	23289734	62812714	128341562	13	10478											
PAPD7	11044	broad.mit.edu	37	chr5	6748612	6748612	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagctcctatggcgccatgCaggtgaagcaggtcttcgat	8	9	14	10	2	1	1	0	1	1	0	3	3	2	2	2	4	3	3	2	4	2	2			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr5:6748612C>T	ENST00000230859.6	+	8	874	c.745C>T	c.(745-747)Cag>Tag	p.Q249*		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	249					cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TGGCGCCATGCAGGTGAAGCA	0.542													5	323					0	0	1	0	0	T	6748612	C	T	6748612	4	4	224	1	0	0	0	0	0	1	0	0	11473	711	25	2	771	2	PAPD7	5	6748612	Nonsense_Mutation	SNP	C	TCGA-J4-A67N-01A-11D-A30E-08		6748612	174166648	14	10479											
TMEM171	134285	broad.mit.edu	37	chr5	72419573	72419573	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgttcttgacaagcggcatgCtcatcagcgtcctgggcatt	7	12	11	11	2	3	1	2	1	1	0	4	1	4	1	1	2	3	4	1	2	1	3			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr5:72419573C>G	ENST00000454765.2	+	2	846	c.373C>G	c.(373-375)Ctc>Gtc	p.L125V	TMEM171_ENST00000287773.5_Missense_Mutation_p.L125V			Q8WVE6	TM171_HUMAN	transmembrane protein 171	125						integral to membrane				endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)	15		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)		AAGCGGCATGCTCATCAGCGT	0.587													6	122					0	0	1	0	0	G	72419573	C	G	72419573	3	3	224	1	0	0	0	0	1	0	0	0	16148	797	28	4	375	4	TMEM171	5	72419573	Missense_Mutation	SNP	C	TCGA-J4-A67N-01A-11D-A30E-08	65670961	72419573	108495687	15	10480											
GRIA1	0	broad.mit.edu	37	chr5	153144159	153144159	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagaaattgcctacgggacGctggaagcaggatctactaa	14	7	11	9	2	1	1	0	0	1	1	1	4	1	4	1	3	4	2	1	3	5	4			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr5:153144159G>A	ENST00000285900.5	+	12	2332	c.1989G>A	c.(1987-1989)acG>acA	p.T663T	GRIA1_ENST00000518783.1_Silent_p.T673T|GRIA1_ENST00000448073.4_Silent_p.T673T|GRIA1_ENST00000521843.2_Silent_p.T594T|GRIA1_ENST00000340592.5_Silent_p.T663T|GRIA1_ENST00000518142.1_Silent_p.T583T	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	663					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CCTACGGGACGCTGGAAGCAG	0.502													18	41					0	0	1	0	0	A	153144159	G	A	153144159	2	1	224	1	0	0	0	0	0	0	0	1	6808	1074	38	1		1	GRIA1	5	153144159	Silent	SNP	G	TCGA-J4-A67N-01A-11D-A30E-08	80724586	153144159	27771101	16	10481											
AIM1	202	broad.mit.edu	37	chr6	106968542	106968542	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catttagaaaaggtgtttgaTcccaaagtgtttacctttgg	11	15	9	6	0	0	2	0	1	0	1	1	2	1	2	2	2	1	2	2	2	5	6			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr6:106968542T>G	ENST00000369066.3	+	2	2722	c.2235T>G	c.(2233-2235)gaT>gaG	p.D745E		NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	745							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AGGTGTTTGATCCCAAAGTGT	0.443													4	104					0	0	1	0	0	G	106968542	T	G	106968542	3	3	224	1	0	0	0	0	1	0	0	0	427	1432	50	5	2241	5	AIM1	6	106968542	Missense_Mutation	SNP	T	TCGA-J4-A67N-01A-11D-A30E-08		106968542	64146525	17	10482											
AOAH	313	broad.mit.edu	37	chr7	36561718	36561718	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctctcttctgccactcctgtAtgactgcagggcacataacg	8	11	8	14	1	2	1	0	1	2	0	4	1	3	1	2	1	3	3	2	1	2	3			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr7:36561718A>G	ENST00000431169.1	-	20	1826	c.1526T>C	c.(1525-1527)aTa>aCa	p.I509T	AOAH_ENST00000538464.1_Missense_Mutation_p.I231T|AOAH_ENST00000535891.1_Missense_Mutation_p.I477T|AOAH_ENST00000258749.5_Missense_Mutation_p.I509T	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	509					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						CCACTCCTGTATGACTGCAGG	0.582													5	52					0	0	1	0	0	G	36561718	A	G	36561718	3	3	224	1	0	0	0	0	1	0	0	0	722	449	16	3	550	3	AOAH	7	36561718	Missense_Mutation	SNP	A	TCGA-J4-A67N-01A-11D-A30E-08		36561718	122576945	18	10483											
GNGT1	2792	broad.mit.edu	37	chr7	93536062	93536062	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttcagcaggcaaaaagatgCcagtaatcaatattgaggac	16	8	9	8	0	2	2	2	1	0	1	2	3	2	3	1	2	2	3	1	2	5	4			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr7:93536062C>A	ENST00000455502.1	+	3	258	c.4C>A	c.(4-6)Cca>Aca	p.P2T	GNGT1_ENST00000248572.5_Missense_Mutation_p.P2T|GNGT1_ENST00000428834.1_Missense_Mutation_p.P2T|GNGT1_ENST00000429473.1_Missense_Mutation_p.P2T|GNGT1_ENST00000430875.1_Missense_Mutation_p.P2T			P63211	GBG1_HUMAN	guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 1	2					G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|signal transducer activity			endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	6	all_cancers(62;2.39e-10)|all_epithelial(64;1.54e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			CAAAAAGATGCCAGTAATCAA	0.403													20	66					8.00594e-06	9.02797e-06	1	1	0	A	93536062	C	A	93536062	3	1	224	1	0	0	0	0	1	0	0	0	6575	739	26	4	6	4	GNGT1	7	93536062	Missense_Mutation	SNP	C	TCGA-J4-A67N-01A-11D-A30E-08	56974344	93536062	65602601	19	10484											
FOXP2	93986	broad.mit.edu	37	chr7	114270015	114270015	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caacagcagcagcagcagcaAcagcagcagcagcagcaaca	17	0	10	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	10	0	0	3	0	rs146945410	byFrequency	TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr7:114270015A>G	ENST00000393500.3	+	11	1147	c.327A>G	c.(325-327)caA>caG	p.Q109Q	FOXP2_ENST00000393494.2_Silent_p.Q184Q|FOXP2_ENST00000350908.4_Silent_p.Q184Q|FOXP2_ENST00000390668.3_Silent_p.Q208Q|FOXP2_ENST00000378237.3_Silent_p.Q184Q|FOXP2_ENST00000393498.2_Silent_p.Q164Q|FOXP2_ENST00000360232.4_Silent_p.Q184Q|FOXP2_ENST00000408937.3_Silent_p.Q209Q|FOXP2_ENST00000403559.4_Silent_p.Q201Q|FOXP2_ENST00000393489.3_Silent_p.Q92Q|FOXP2_ENST00000393491.3_Silent_p.Q92Q			O15409	FOXP2_HUMAN	forkhead box P2	184	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcagcagcaacagcagcagc	0.502													4	76					0	0	1	0	0	G	114270015	A	G	114270015	2	3	224	1	0	0	0	0	0	0	0	1	6061	40	2	3		3	FOXP2	7	114270015	Silent	SNP	A	TCGA-J4-A67N-01A-11D-A30E-08	20733953	114270015	44868648	20	10485											
ABLIM1	3983	broad.mit.edu	37	chr10	116207677	116207677	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggaccaggccagtggtccGtctcaatctttggtgtctcg	5	11	14	11	2	3	0	1	0	3	0	6	1	4	1	3	5	0	0	3	5	1	1			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr10:116207677G>A	ENST00000369252.4	-	15	1818	c.1517C>T	c.(1516-1518)aCg>aTg	p.T506M	ABLIM1_ENST00000369253.2_Missense_Mutation_p.T189M|ABLIM1_ENST00000369266.3_Missense_Mutation_p.T243M|ABLIM1_ENST00000392952.3_Missense_Mutation_p.T243M|ABLIM1_ENST00000277895.5_Missense_Mutation_p.T566M|ABLIM1_ENST00000533213.2_Missense_Mutation_p.T506M	NM_001003407.1|NM_001003408.1	NP_001003407.1|NP_001003408.1	O14639	ABLM1_HUMAN	actin binding LIM protein 1	566					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		CCAGTGGTCCGTCTCAATCTT	0.542													27	60					0	0	1	0	0	A	116207677	G	A	116207677	3	1	224	1	0	0	0	0	1	0	0	0	94	1145	40	1	671	1	ABLIM1	10	116207677	Missense_Mutation	SNP	G	TCGA-J4-A67N-01A-11D-A30E-08		116207677	19327070	21	10486											
CHST15	51363	broad.mit.edu	37	chr10	125780846	125780852	+	Frame_Shift_Del	DEL	GCTGCAG	GCTGCAG	-																															aagcatgcaattttcaaacaGctgcagtgcttctgtcactt																										TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr10:125780846_125780852delGCTGCAG	ENST00000346248.5	-	6	1909_1915	c.1267_1273delCTGCAGC	c.(1267-1275)tgfs	p.LQL423fs	CHST15_ENST00000421115.1_Frame_Shift_Del_p.LQL423fs|CHST15_ENST00000435907.1_Frame_Shift_Del_p.LQL423fs	NM_001270764.1|NM_015892.3	NP_001257693.1|NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	423					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						TTTTCAAACAGCTGCAGTGCTTCTGTC	0.473													12	24	---	---	---	---						-	125780852	GCTGCAG	-	125780846	7	5	224	1	0	1	0	1	0	0	0	0	3425	962	34	0	424	0	CHST15	10	125780846	Frame_Shift_Del	DEL	GCTGCAG	TCGA-J4-A67N-01A-11D-A30E-08	9573169	125780846	9753901	22	10487											
OR5AK2	390181	broad.mit.edu	37	chr11	56756464	56756464	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccagcatgagttttggtgtAtcctcttcattgtattcctt	6	18	7	10	0	2	1	1	1	1	0	4	1	4	1	3	1	1	4	3	1	2	8			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr11:56756464A>G	ENST00000326855.2	+	1	118	c.76A>G	c.(76-78)Atc>Gtc	p.I26V		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						GTTTTGGTGTATCCTCTTCAT	0.398													4	135					0	0	1	0	0	G	56756464	A	G	56756464	3	3	224	1	0	0	0	0	1	0	0	0	11189	449	16	3	78	3	OR5AK2	11	56756464	Missense_Mutation	SNP	A	TCGA-J4-A67N-01A-11D-A30E-08		56756464	78250052	23	10488											
FAM111A	63901	broad.mit.edu	37	chr11	58920765	58920765	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatttttctttggggcttccGgctcccctgtgtttgattca	4	18	9	10	1	2	1	1	1	1	0	4	1	4	1	3	3	0	3	3	3	1	6			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr11:58920765G>A	ENST00000528737.1	+	5	4442	c.1624G>A	c.(1624-1626)Ggc>Agc	p.G542S	FAM111A_ENST00000361723.3_Missense_Mutation_p.G542S|FAM111A_ENST00000533703.1_Missense_Mutation_p.G542S|FAM111A_ENST00000420244.1_Missense_Mutation_p.G542S|FAM111A_ENST00000531147.1_Missense_Mutation_p.G542S			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	542					proteolysis		serine-type endopeptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				TGGGGCTTCCGGCTCCCCTGT	0.413													4	148					0	0	1	0	0	A	58920765	G	A	58920765	3	1	224	1	0	0	0	0	1	0	0	0	5430	1116	39	1	1630	1	FAM111A	11	58920765	Missense_Mutation	SNP	G	TCGA-J4-A67N-01A-11D-A30E-08	2164301	58920765	76085751	24	10489											
FGF9	2254	broad.mit.edu	37	chr13	22246172	22246172	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgaccacctgggtcagtccGaagcaggggggctccccagg	7	5	16	13	1	1	1	1	1	0	0	3	2	3	1	5	5	1	2	5	5	1	0			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr13:22246172G>A	ENST00000382353.5	+	1	651	c.121G>A	c.(121-123)Gaa>Aaa	p.E41K		NM_002010.2	NP_002001.1	P31371	FGF9_HUMAN	fibroblast growth factor 9	41					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division	extracellular space	growth factor activity|heparin binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2)	9		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)		GGGTCAGTCCGAAGCAGGGGG	0.572													6	107					0	0	1	0	0	A	22246172	G	A	22246172	3	1	224	1	0	0	0	0	1	0	0	0	5892	1059	37	1	123	1	FGF9	13	22246172	Missense_Mutation	SNP	G	TCGA-J4-A67N-01A-11D-A30E-08		22246172	92923706	25	10490											
TEX9	374618	broad.mit.edu	37	chr15	56657675	56657675	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcgaagtctgtgtctcacGgtcagttcaactccaggctc	7	10	12	12	2	4	0	3	0	2	0	7	1	5	0	1	3	1	2	1	3	2	1			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr15:56657675G>C	ENST00000561221.2	+	1	32	c.27_splice	c.e1+1	p.T9_splice	TEX9_ENST00000352903.2_Splice_Site_p.T9_splice|TEX9_ENST00000558083.2_5'UTR|TEX9_ENST00000537232.1_5'UTR			Q8N6V9	TEX9_HUMAN	testis expressed 9	9										cervix(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	14				all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056)		TGTGTCTCACGGTCAGTTCAA	0.587													11	43					0	0	1	0	0	C	56657675	G	C	56657675	5	2	224	1	0	0	0	0	0	0	1	0	15844	1130	39	4	29	4	TEX9	15	56657675	Splice_Site	SNP	G	TCGA-J4-A67N-01A-11D-A30E-08		56657675	45873717	26	10491											
SCNN1B	0	broad.mit.edu	37	chr16	23391983	23391983	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggcttccagcctgacacggCcccccgcagccccaacactg	7	5	9	20	2	0	1	0	1	0	0	1	1	1	1	7	2	3	2	7	2	1	1			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr16:23391983C>T	ENST00000343070.2	+	13	1960	c.1784C>T	c.(1783-1785)gCc>gTc	p.A595V	SCNN1B_ENST00000568085.1_Missense_Mutation_p.A559V|SCNN1B_ENST00000307331.5_Missense_Mutation_p.A640V|SCNN1B_ENST00000568923.1_Missense_Mutation_p.A568V	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	595					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	CCTGACACGGCCCCCCGCAGC	0.711													26	59					0	0	1	0	0	T	23391983	C	T	23391983	3	4	224	1	0	0	0	0	1	0	0	0	13982	739	26	2	1830	2	SCNN1B	16	23391983	Missense_Mutation	SNP	C	TCGA-J4-A67N-01A-11D-A30E-08		23391983	66962770	27	10492											
CCDC144A	9720	broad.mit.edu	37	chr17	16593944	16593944	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagccccagcacgacgtccGcctggaagatcttggcgagc	8	5	12	16	4	1	1	0	0	1	1	2	4	2	2	5	2	3	1	5	2	1	1			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr17:16593944G>T	ENST00000443444.2	+	1	370	c.230G>T	c.(229-231)cGc>cTc	p.R77L	CCDC144A_ENST00000456009.1_Missense_Mutation_p.R77L|CCDC144A_ENST00000436374.1_3'UTR|CCDC144A_ENST00000360524.8_Missense_Mutation_p.R77L|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.R77L|CCDC144A_ENST00000340621.5_Missense_Mutation_p.R77L|CCDC144A_ENST00000399273.1_Missense_Mutation_p.R77L			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	77																	CACGACGTCCGCCTGGAAGAT	0.647													7	167					0.248553	0.248553	1	1	0	T	16593944	G	T	16593944	3	4	224	1	0	0	0	0	1	0	0	0	2795	1087	38	4	232	4	CCDC144A	17	16593944	Missense_Mutation	SNP	G	TCGA-J4-A67N-01A-11D-A30E-08		16593944	64601266	28	10493											
NOS2	4843	broad.mit.edu	37	chr17	26099431	26099431	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaggatggtgactctgactCgggacgccattgtcttgcgc	7	10	14	10	3	2	3	0	2	2	1	3	5	2	5	1	3	1	0	1	3	0	2			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr17:26099431C>T	ENST00000313735.6	-	14	1840	c.1607G>A	c.(1606-1608)cGa>cAa	p.R536Q		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	536					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	GACTCTGACTCGGGACGCCAT	0.572													17	43					0	0	1	0	0	T	26099431	C	T	26099431	3	4	224	1	0	0	0	0	1	0	0	0	10590	884	31	1	1910	1	NOS2	17	26099431	Missense_Mutation	SNP	C	TCGA-J4-A67N-01A-11D-A30E-08	9505487	26099431	55095779	29	10494											
KRT15	3866	broad.mit.edu	37	chr17	39673194	39673194	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcagcctcaacgccctggcGcagggccagctcattctcat	7	8	10	16	2	4	0	4	0	1	0	5	0	4	0	3	2	3	2	3	2	1	1			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr17:39673194G>A	ENST00000254043.3	-	3	4189	c.604C>T	c.(604-606)Cgc>Tgc	p.R202C	KRT15_ENST00000393976.2_Missense_Mutation_p.R202C|KRT15_ENST00000393981.3_Missense_Mutation_p.R37C|KRT15_ENST00000393974.3_Missense_Mutation_p.R37C	NM_002275.3	NP_002266.2	P19012	K1C15_HUMAN	keratin 15	202	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				ACGCCCTGGCGCAGGGCCAGC	0.597													4	111					0	0	1	0	0	A	39673194	G	A	39673194	3	1	224	1	0	0	0	0	1	0	0	0	8495	1087	38	1	790	1	KRT15	17	39673194	Missense_Mutation	SNP	G	TCGA-J4-A67N-01A-11D-A30E-08	13573763	39673194	41522016	30	10495											
PALM	5064	broad.mit.edu	37	chr19	726159	726159	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctggcggcagagaccacGtcccagcaggagcggctgca	8	4	15	14	3	0	1	0	0	0	1	2	3	2	2	3	4	3	4	3	4	0	0			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr19:726159G>A	ENST00000264560.7	+	2	221	c.27G>A	c.(25-27)acG>acA	p.T9T	PALM_ENST00000338448.5_Silent_p.T9T|PALM_ENST00000606643.1_3'UTR	NM_001040134.1	NP_001035224.1	O75781	PALM_HUMAN	paralemmin	9					cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)		CAGAGACCACGTCCCAGCAGG	0.672													33	79					0	0	1	0	0	A	726159	G	A	726159	2	1	224	1	0	0	0	0	0	0	0	1	11455	1132	40	1		1	PALM	19	726159	Silent	SNP	G	TCGA-J4-A67N-01A-11D-A30E-08		726159	58402824	31	10496											
FCGBP	8857	broad.mit.edu	37	chr19	40357401	40357401	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acacccttgtttggagtcaaCgtcaccatcccatcctggaa	10	10	7	14	1	2	0	2	0	0	0	4	2	4	2	4	2	1	1	4	2	2	2			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr19:40357401C>A	ENST00000221347.6	-	34	15919	c.15912G>T	c.(15910-15912)acG>acT	p.T5304T		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5304	VWFD 13.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TTGGAGTCAACGTCACCATCC	0.542													4	82					0.00909568	0.00964142	1	1	0	A	40357401	C	A	40357401	2	1	224	1	0	0	0	0	0	0	0	1	5811	523	19	4		4	FCGBP	19	40357401	Silent	SNP	C	TCGA-J4-A67N-01A-11D-A30E-08	39631242	40357401	18771582	32	10497											
CCT8L2	150160	broad.mit.edu	37	chr22	17073401	17073401	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttgggttcagtgccagccGctggggcagctccagggctg	4	8	16	13	1	1	0	1	0	0	0	2	0	2	0	4	4	3	5	4	4	0	2			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chr22:17073401G>A	ENST00000359963.3	-	1	299	c.40C>T	c.(40-42)Cgg>Tgg	p.R14W		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	14					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				AGTGCCAGCCGCTGGGGCAGC	0.637													25	37					0	0	1	0	0	A	17073401	G	A	17073401	3	1	224	1	0	0	0	0	1	0	0	0	2983	1086	38	1	1637	1	CCT8L2	22	17073401	Missense_Mutation	SNP	G	TCGA-J4-A67N-01A-11D-A30E-08		17073401	34231165	33	10498											
ARHGEF9	23229	broad.mit.edu	37	chrX	62863890	62863890	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agggacttttctcacagtcaTtgcagcctgcctcttctggt	6	14	9	12	0	4	0	2	0	3	0	5	1	4	1	2	2	3	1	2	2	0	4			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chrX:62863890T>C	ENST00000253401.6	-	9	2139	c.1339A>G	c.(1339-1341)Atg>Gtg	p.M447V	ARHGEF9_ENST00000437457.2_Missense_Mutation_p.M394V|ARHGEF9_ENST00000374878.1_Missense_Mutation_p.M445V|ARHGEF9_ENST00000374870.4_Missense_Mutation_p.M345V|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000433323.2_Missense_Mutation_p.M174V|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.M426V	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	447					apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						CTCACAGTCATTGCAGCCTGC	0.358													4	22					0	0	1	0	0	C	62863890	T	C	62863890	3	2	224	1	0	0	0	0	1	0	0	0	909	1493	52	3	219	3	ARHGEF9	23	62863890	Missense_Mutation	SNP	T	TCGA-J4-A67N-01A-11D-A30E-08		62863890	92406670	34	10499											
PCDH11X	27328	broad.mit.edu	37	chrX	91133813	91133813	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctgaatgggctaccccaaaCccagaaaacaggcagatgat	15	6	9	11	0	1	4	0	2	1	2	1	4	1	4	3	2	3	2	3	2	5	1			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chrX:91133813C>T	ENST00000373094.1	+	2	3419	c.2574C>T	c.(2572-2574)aaC>aaT	p.N858N	PCDH11X_ENST00000406881.1_Silent_p.N858N|PCDH11X_ENST00000298274.8_Silent_p.N858N|PCDH11X_ENST00000373097.1_Silent_p.N858N|PCDH11X_ENST00000373088.1_Silent_p.N858N|PCDH11X_ENST00000395337.2_Silent_p.N858N|PCDH11X_ENST00000361724.1_Silent_p.N858N|PCDH11X_ENST00000361655.2_Silent_p.N858N|PCDH11X_ENST00000504220.1_Silent_p.N858N	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	858					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CTACCCCAAACCCAGAAAACA	0.393													31	13					0	0	1	0	0	T	91133813	C	T	91133813	2	4	224	1	0	0	0	0	0	0	0	1	11555	506	18	2		2	PCDH11X	23	91133813	Silent	SNP	C	TCGA-J4-A67N-01A-11D-A30E-08	28269923	91133813	64136747	35	10500											
FHL1	2273	broad.mit.edu	37	chrX	135290740	135290740	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaggaccagtattactgcGtggattgctacaagaacttt	11	12	11	7	1	0	1	0	0	0	1	0	4	0	4	1	3	5	2	1	3	5	5			TCGA-J4-A67N-01A-11D-A30E-08	TCGA-J4-A67N-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f07d2982-6313-4e21-a0a1-cf713daff114	f73b4226-3788-4704-acae-67420da417dd	g.chrX:135290740G>A	ENST00000543669.1	+	5	1339	c.628G>A	c.(628-630)Gtg>Atg	p.V210M	FHL1_ENST00000370683.1_Missense_Mutation_p.V226M|FHL1_ENST00000394153.2_Missense_Mutation_p.V210M|FHL1_ENST00000394155.2_Missense_Mutation_p.V210M|FHL1_ENST00000370690.3_Missense_Mutation_p.V210M|FHL1_ENST00000345434.3_Missense_Mutation_p.V210M|FHL1_ENST00000535737.1_Missense_Mutation_p.V210M|FHL1_ENST00000370676.3_Intron|FHL1_ENST00000539015.1_Missense_Mutation_p.V239M	NM_001159704.1	NP_001153176.1	Q13642	FHL1_HUMAN	four and a half LIM domains 1	210	LIM zinc-binding 3.				cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(192;0.000127)					GTATTACTGCGTGGATTGCTA	0.527													115	42					0	0	1	0	0	A	135290740	G	A	135290740	3	1	224	1	0	0	0	0	1	0	0	0	5911	1145	40	1	759	1	FHL1	23	135290740	Missense_Mutation	SNP	G	TCGA-J4-A67N-01A-11D-A30E-08	44156927	135290740	19979820	36	10501											
LRRC8C	84230	broad.mit.edu	37	chr1	90178510	90178510	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cactggtatgccaagtatttCccttaccttgtcctcatcca	8	14	5	14	0	1	0	1	0	0	0	4	0	4	0	5	1	2	2	5	1	4	5			TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr1:90178510C>T	ENST00000370454.4	+	3	636	c.381C>T	c.(379-381)ttC>ttT	p.F127F	LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	NM_032270.4	NP_115646.2	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	127						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		CCAAGTATTTCCCTTACCTTG	0.433													14	150					0	0	1	0	0	T	90178510	C	T	90178510	2	4	225	1	0	0	0	0	0	0	0	1	9068	854	30	2		2	LRRC8C	1	90178510	Silent	SNP	C	TCGA-J4-A67O-01A-11D-A30E-08		90178510	159072111	1	10502											
ZNF644	84146	broad.mit.edu	37	chr1	91406702	91406702	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttcaggcagagtcaacgtaTtatttttctgaaatgatgtt	11	16	8	6	1	3	3	2	2	1	1	3	3	3	3	0	1	1	3	0	1	4	6			TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr1:91406702T>A	ENST00000370440.1	-	3	426	c.209A>T	c.(208-210)aAt>aTt	p.N70I	ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.N70I|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000347275.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	70					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		AGTCAACGTATTATTTTTCTG	0.393													14	94					0	0	1	0	0	A	91406702	T	A	91406702	3	1	225	1	0	0	0	0	1	0	0	0	18117	1493	52	5	3790	5	ZNF644	1	91406702	Missense_Mutation	SNP	T	TCGA-J4-A67O-01A-11D-A30E-08	1228192	91406702	157843919	2	10503											
ZAP70	7535	broad.mit.edu	37	chr2	98349377	98349377	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaggagcagggcacatacGccctgtccctcatctatggg	9	7	13	12	1	2	0	1	0	1	0	3	2	3	2	2	4	2	2	2	4	3	2			TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr2:98349377G>A	ENST00000264972.5	+	5	810	c.595G>A	c.(595-597)Gcc>Acc	p.A199T	ZAP70_ENST00000442208.1_Missense_Mutation_p.A73T|ZAP70_ENST00000463643.1_3'UTR	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	199	SH2 2.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						GGGCACATACGCCCTGTCCCT	0.627													5	59					0	0	1	0	0	A	98349377	G	A	98349377	3	1	225	1	0	0	0	0	1	0	0	0	17574	1087	38	1	605	1	ZAP70	2	98349377	Missense_Mutation	SNP	G	TCGA-J4-A67O-01A-11D-A30E-08		98349377	144849996	3	10504											
TMF1	7110	broad.mit.edu	37	chr3	69097585	69097585	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaagaaattttcagattcatCgaccacagtcctccgaactg	13	10	7	11	2	2	2	2	0	0	2	5	5	4	2	3	0	1	0	3	0	3	3			TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr3:69097585C>T	ENST00000543976.1	-	2	517	c.271G>A	c.(271-273)Gat>Aat	p.D91N	CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|TMF1_ENST00000398559.2_Missense_Mutation_p.D91N|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN	TATA element modulatory factor 1	91					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		TCAGATTCATCGACCACAGTC	0.463													31	229					0	0	1	0	0	T	69097585	C	T	69097585	3	4	225	1	0	0	0	0	1	0	0	0	16288	884	31	1	3074	1	TMF1	3	69097585	Missense_Mutation	SNP	C	TCGA-J4-A67O-01A-11D-A30E-08		69097585	128924845	4	10505											
ANKRD17	26057	broad.mit.edu	37	chr4	73951097	73951097	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacctcctgaaatgtttgaaGcaaagtttcccaaatgtgtt	12	13	8	8	0	0	2	0	2	0	0	2	3	2	2	3	0	1	4	3	0	4	3			TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr4:73951097G>A	ENST00000358602.4	-	30	7144	c.7028C>T	c.(7027-7029)gCt>gTt	p.A2343V	ANKRD17_ENST00000330838.6_Missense_Mutation_p.A2092V|ANKRD17_ENST00000509867.2_Missense_Mutation_p.A2230V	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2343					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AATGTTTGAAGCAAAGTTTCC	0.428													4	161					0	0	1	0	0	A	73951097	G	A	73951097	3	1	225	1	0	0	0	0	1	0	0	0	642	971	34	2	803	2	ANKRD17	4	73951097	Missense_Mutation	SNP	G	TCGA-J4-A67O-01A-11D-A30E-08		73951097	117203179	5	10506											
OR11A1	0	broad.mit.edu	37	chr6	29395335	29395335	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagtgaatacaataaaaaaCaagaaatgcagttcagggat	20	7	9	5	0	1	2	1	1	0	1	1	3	1	3	0	1	3	3	0	1	8	3			TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr6:29395335C>T	ENST00000377149.1	-	5	556	c.84G>A	c.(82-84)ttG>ttA	p.L28L	OR5V1_ENST00000377154.1_Intron|OR11A1_ENST00000377148.1_Silent_p.L28L|OR11A1_ENST00000377147.2_Silent_p.L28L			Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A, member 1	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						CAATAAAAAACAAGAAATGCA	0.408													4	83					0	0	1	0	0	T	29395335	C	T	29395335	2	4	225	1	0	0	0	0	0	0	0	1	10972	477	17	2		2	OR11A1	6	29395335	Silent	SNP	C	TCGA-J4-A67O-01A-11D-A30E-08		29395335	141719732	6	10507											
CAPN11	11131	broad.mit.edu	37	chr6	44144631	44144631	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggagatctgcaacctcaCgcctgatacactctctgggg	8	9	10	14	1	3	2	1	1	2	1	4	3	3	2	3	3	3	1	3	3	2	1			TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr6:44144631C>A	ENST00000398776.1	+	11	1171	c.1133C>A	c.(1132-1134)aCg>aAg	p.T378K	CAPN11_ENST00000542245.1_Missense_Mutation_p.T378K	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	378	Calpain catalytic.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TGCAACCTCACGCCTGATACA	0.597													6	263					0.00198382	0.00203341	1	1	0	A	44144631	C	A	44144631	3	1	225	1	0	0	0	0	1	0	0	0	2642	536	19	4	1175	4	CAPN11	6	44144631	Missense_Mutation	SNP	C	TCGA-J4-A67O-01A-11D-A30E-08	14749296	44144631	126970436	7	10508											
NOS3	4846	broad.mit.edu	37	chr7	150699374	150699374	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacatttgggaatggggaTcccccggagaatggagaggt	11	7	16	7	1	0	2	0	0	0	2	1	6	1	4	2	6	1	1	2	6	2	1			TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr7:150699374T>C	ENST00000297494.3	+	14	2091	c.1734T>C	c.(1732-1734)gaT>gaC	p.D578D	NOS3_ENST00000461406.1_Silent_p.D372D|NOS3_ENST00000467517.1_Silent_p.D578D|NOS3_ENST00000484524.1_Silent_p.D578D	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	578	Flavodoxin-like.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	GGAATGGGGATCCCCCGGAGA	0.562													3	10					0	0	1	0	0	C	150699374	T	C	150699374	2	2	225	1	0	0	0	0	0	0	0	1	10591	1432	50	3		3	NOS3	7	150699374	Silent	SNP	T	TCGA-J4-A67O-01A-11D-A30E-08		150699374	8439289	8	10509											
TATDN1	83940	broad.mit.edu	37	chr8	125535240	125535240	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtcagtcaagttgataccaAtatctgtagaaagcaaaagt	16	10	9	6	0	3	2	2	1	1	1	3	2	3	2	1	1	2	3	1	1	8	4			TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr8:125535240A>G	ENST00000276692.6	-	2	63	c.26T>C	c.(25-27)aTt>aCt	p.I9T	TATDN1_ENST00000605953.1_Missense_Mutation_p.I9T|TATDN1_ENST00000517678.1_5'UTR|TATDN1_ENST00000521546.1_5'UTR|TATDN1_ENST00000519548.1_Intron	NM_032026.3	NP_114415.1	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1	9						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GTTGATACCAATATCTGTAGA	0.328													9	49					0	0	1	0	0	G	125535240	A	G	125535240	3	3	225	1	0	0	0	0	1	0	0	0	15648	101	4	3	911	3	TATDN1	8	125535240	Missense_Mutation	SNP	A	TCGA-J4-A67O-01A-11D-A30E-08		125535240	20828782	9	10510											
FRMD3	257019	broad.mit.edu	37	chr9	85863145	85863145	+	Missense_Mutation	SNP	C	C	G																															agctcctcttcttcagcaatCaaaaaggcgttttcatctgc																										TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr9:85863145C>G	ENST00000304195.3	-	14	1688	c.1482G>C	c.(1480-1482)ttG>ttC	p.L494F	FRMD3_ENST00000328788.1_Missense_Mutation_p.L151F|FRMD3_ENST00000376434.1_Missense_Mutation_p.L300F|FRMD3_ENST00000376438.1_Missense_Mutation_p.L494F|FRMD3_ENST00000465485.1_5'UTR	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	494						cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						CTTCAGCAATCAAAAAGGCGT	0.468													20	148					0	0	1	0	0	G	85863145	C	G	85863145	3	3	225	1	0	0	0	0	1	0	0	0	6085	825	29	4	315	4	FRMD3	9	85863145	Missense_Mutation	SNP	C	TCGA-J4-A67O-01A-11D-A30E-08		85863145	55350286	10	10511	56	2									
FRMD3	257019	broad.mit.edu	37	chr9	85863147	85863147	+	Missense_Mutation	SNP	A	A	C																															ctcctcttcttcagcaatcaAaaaggcgttttcatctgctt																										TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr9:85863147A>C	ENST00000304195.3	-	14	1686	c.1480T>G	c.(1480-1482)Ttg>Gtg	p.L494V	FRMD3_ENST00000328788.1_Missense_Mutation_p.L151V|FRMD3_ENST00000376434.1_Missense_Mutation_p.L300V|FRMD3_ENST00000376438.1_Missense_Mutation_p.L494V|FRMD3_ENST00000465485.1_5'UTR	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	494						cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						TCAGCAATCAAAAAGGCGTTT	0.478													20	150					0	0	1	0	0	C	85863147	A	C	85863147	3	2	225	1	0	0	0	0	1	0	0	0	6085	11	1	5	317	5	FRMD3	9	85863147	Missense_Mutation	SNP	A	TCGA-J4-A67O-01A-11D-A30E-08	2	85863147	55350284	11	10512	56	2									
PANK1	53354	broad.mit.edu	37	chr10	91371708	91371708	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggatgctcttcaggttctcCacttcctcttgctcctcttc	3	16	6	16	1	5	0	1	0	4	0	9	1	7	1	3	2	2	3	3	2	0	5			TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr10:91371708C>G	ENST00000307534.4	-	2	956	c.801G>C	c.(799-801)gtG>gtC	p.V267V	PANK1_ENST00000371774.2_Silent_p.V69V|PANK1_ENST00000342512.3_Silent_p.V42V|PANK1_ENST00000322191.6_Silent_p.V42V	NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN	pantothenate kinase 1	267					coenzyme A biosynthetic process|pantothenate metabolic process	cytosol|nucleus	ATP binding|pantothenate kinase activity			cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11					Bezafibrate(DB01393)	TCAGGTTCTCCACTTCCTCTT	0.473													11	79					0	0	1	0	0	G	91371708	C	G	91371708	2	3	225	1	0	0	0	0	0	0	0	1	11463	581	21	4		4	PANK1	10	91371708	Silent	SNP	C	TCGA-J4-A67O-01A-11D-A30E-08		91371708	44163039	12	10513											
MAP4K2	5871	broad.mit.edu	37	chr11	64559403	64559403	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgggatgaggatgtcgggCgtcaggccagcctccagggg	6	6	20	9	2	1	1	1	1	0	0	3	3	2	3	3	7	1	0	3	7	0	0			TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr11:64559403C>T	ENST00000294066.2	-	27	2161	c.2070G>A	c.(2068-2070)acG>acA	p.T690T	MAP4K2_ENST00000377350.3_Silent_p.T682T	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2	690	CNH.				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						GGATGTCGGGCGTCAGGCCAG	0.692													5	7					0	0	1	0	0	T	64559403	C	T	64559403	2	4	225	1	0	0	0	0	0	0	0	1	9310	755	27	1		1	MAP4K2	11	64559403	Silent	SNP	C	TCGA-J4-A67O-01A-11D-A30E-08		64559403	70447113	13	10514											
OR6T1	219874	broad.mit.edu	37	chr11	123814182	123814182	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcggcagattgccaggtaacGatccagagacatgacggcca	12	6	12	11	3	0	3	0	1	0	2	2	5	1	3	3	3	2	2	3	3	1	2			TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr11:123814182G>A	ENST00000321252.2	-	1	398	c.364C>T	c.(364-366)Cgt>Tgt	p.R122C		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R122S(1)|p.R122C(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GCCAGGTAACGATCCAGAGAC	0.527													3	34					0	0	1	0	0	A	123814182	G	A	123814182	3	1	225	1	0	0	0	0	1	0	0	0	11257	1058	37	1	610	1	OR6T1	11	123814182	Missense_Mutation	SNP	G	TCGA-J4-A67O-01A-11D-A30E-08	59254779	123814182	11192334	14	10515											
SLC6A13	6540	broad.mit.edu	37	chr12	369173	369173	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttccatgactggatacactgGttttgtctctccattactgg	7	16	8	10	0	1	1	0	1	1	0	4	2	3	2	2	3	2	1	2	3	2	5			TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr12:369173G>A	ENST00000343164.4	-	2	98	c.46C>T	c.(46-48)Cca>Tca	p.P16S	SLC6A13_ENST00000436453.1_Missense_Mutation_p.P16S|SLC6A13_ENST00000445055.2_Missense_Mutation_p.P16S	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	16					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			GGATACACTGGTTTTGTCTCT	0.517													20	179					0	0	1	0	0	A	369173	G	A	369173	3	1	225	1	0	0	0	0	1	0	0	0	14731	1261	44	2	1818	2	SLC6A13	12	369173	Missense_Mutation	SNP	G	TCGA-J4-A67O-01A-11D-A30E-08		369173	133482722	15	10516											
GPC5	2262	broad.mit.edu	37	chr13	92345964	92345964	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcatgcgaggctgcctggcGcacatggcggagcttaatcc	7	8	14	12	3	1	0	1	0	0	0	2	2	2	1	2	4	3	3	2	4	1	1	rs147274494		TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr13:92345964G>A	ENST00000377067.3	+	3	1221	c.849G>A	c.(847-849)gcG>gcA	p.A283A		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	283						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GCTGCCTGGCGCACATGGCGG	0.552													13	84					0	0	1	0	0	A	92345964	G	A	92345964	2	1	225	1	0	0	0	0	0	0	0	1	6641	1074	38	1		1	GPC5	13	92345964	Silent	SNP	G	TCGA-J4-A67O-01A-11D-A30E-08		92345964	22823914	16	10517											
CDC42BPB	9578	broad.mit.edu	37	chr14	103416203	103416203	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacagacgactgcatatgcGcgctgccatcccttcttcac	8	10	7	16	3	3	1	2	0	1	1	4	2	4	1	2	0	3	2	2	0	1	3			TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr14:103416203G>T	ENST00000361246.2	-	26	3636	c.3348C>A	c.(3346-3348)cgC>cgA	p.R1116R		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	1116	PH.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CTGCATATGCGCGCTGCCATC	0.557													18	115					3.51602e-12	3.89613e-12	1	1	0	T	103416203	G	T	103416203	2	4	225	1	0	0	0	0	0	0	0	1	3095	1074	38	4		4	CDC42BPB	14	103416203	Silent	SNP	G	TCGA-J4-A67O-01A-11D-A30E-08		103416203	3933337	17	10518											
MGA	23269	broad.mit.edu	37	chr15	42035035	42035035	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgacgtggaaactaaagaaaCtacttattcttctggtgcca	13	12	8	8	1	2	2	0	1	2	1	2	3	2	3	1	2	4	0	1	2	6	5			TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr15:42035035C>T	ENST00000219905.7	+	15	5058	c.4877C>T	c.(4876-4878)aCt>aTt	p.T1626I	MGA_ENST00000389936.4_Missense_Mutation_p.T1626I|MGA_ENST00000570161.1_Missense_Mutation_p.T1626I|MGA_ENST00000545763.1_Intron|MGA_ENST00000566586.1_Intron	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	1626	Thr-rich.					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		ACTAAAGAAACTACTTATTCT	0.448													8	78					0	0	1	0	0	T	42035035	C	T	42035035	3	4	225	1	0	0	0	0	1	0	0	0	9590	565	20	2	4931	2	MGA	15	42035035	Missense_Mutation	SNP	C	TCGA-J4-A67O-01A-11D-A30E-08		42035035	60496357	18	10519											
UBN1	29855	broad.mit.edu	37	chr16	4910802	4910802	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaggagcataagcctgttgCggtcccatcagcggaagctc	9	7	14	11	2	1	0	1	0	0	0	3	3	2	3	2	4	5	3	2	4	2	2			TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr16:4910802C>T	ENST00000396658.4	+	6	1512	c.809C>T	c.(808-810)gCg>gTg	p.A270V	UBN1_ENST00000545171.1_Missense_Mutation_p.A270V|UBN1_ENST00000590769.1_Missense_Mutation_p.A270V|UBN1_ENST00000585857.1_3'UTR|UBN1_ENST00000262376.6_Missense_Mutation_p.A270V	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	270					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						AAGCCTGTTGCGGTCCCATCA	0.498													4	113					0	0	1	0	0	T	4910802	C	T	4910802	3	4	225	1	0	0	0	0	1	0	0	0	16953	768	27	1	831	1	UBN1	16	4910802	Missense_Mutation	SNP	C	TCGA-J4-A67O-01A-11D-A30E-08		4910802	85443951	19	10520											
KLHDC4	54758	broad.mit.edu	37	chr16	87788845	87788845	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggactggggatgtcaactttGgtccaggtgtcctttctggt	5	14	14	8	0	2	0	1	0	1	0	4	2	4	2	2	6	1	0	2	6	1	2			TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr16:87788845G>T	ENST00000270583.5	-	4	382	c.324C>A	c.(322-324)acC>acA	p.T108T	KLHDC4_ENST00000347925.5_Silent_p.T108T|KLHDC4_ENST00000353170.5_Silent_p.T51T	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	108										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		TGTCAACTTTGGTCCAGGTGT	0.502													10	47					3.86212e-05	4.06018e-05	1	1	0	T	87788845	G	T	87788845	2	4	225	1	0	0	0	0	0	0	0	1	8401	1335	47	4		4	KLHDC4	16	87788845	Silent	SNP	G	TCGA-J4-A67O-01A-11D-A30E-08	82878043	87788845	2565908	20	10521											
ZNF232	7775	broad.mit.edu	37	chr17	5009595	5009595	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggatgacaaccatctgccTgaaactttcctcctgggcag	10	10	9	12	0	1	2	0	2	1	0	3	3	3	3	4	2	3	1	4	2	2	1			TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr17:5009595T>C	ENST00000250076.3	-	5	1513	c.859A>G	c.(859-861)Agg>Ggg	p.R287G	ZNF232_ENST00000416429.2_3'UTR|ZNF232_ENST00000575898.1_Missense_Mutation_p.R278G	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	260					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						ACCATCTGCCTGAAACTTTCC	0.453													4	111					0	0	1	0	0	C	5009595	T	C	5009595	3	2	225	1	0	0	0	0	1	0	0	0	17843	1579	55	3	479	3	ZNF232	17	5009595	Missense_Mutation	SNP	T	TCGA-J4-A67O-01A-11D-A30E-08		5009595	76185615	21	10522											
RNF213	57674	broad.mit.edu	37	chr17	78328255	78328255	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtacagcctctttcttgcggGtatccaagatgcgcctcagt	7	12	10	12	2	3	1	1	0	2	1	4	1	4	1	3	1	4	2	3	1	3	4			TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr17:78328255G>A	ENST00000582970.1	+	36	10884	c.10741G>A	c.(10741-10743)Gta>Ata	p.V3581I	CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.V3630I|RNF213_ENST00000336301.6_Missense_Mutation_p.V1654I	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TTTCTTGCGGGTATCCAAGAT	0.552													11	96					0	0	1	0	0	A	78328255	G	A	78328255	3	1	225	1	0	0	0	0	1	0	0	0	13529	1261	44	2	11198	2	RNF213	17	78328255	Missense_Mutation	SNP	G	TCGA-J4-A67O-01A-11D-A30E-08	73318660	78328255	2866955	22	10523											
CACNA1A	773	broad.mit.edu	37	chr19	13441098	13441098	+	Frame_Shift_Del	DEL	G	G	-																															agctgatcctcagcctcttcGgggttgagcaaatctgtctt																										TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr19:13441098delG	ENST00000360228.5	-	10	1304	c.1305delC	c.(1303-1305)ccfs	p.P435fs	CACNA1A_ENST00000573710.2_Frame_Shift_Del_p.P436fs	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	436					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CAGCCTCTTCGGGGTTGAGCA	0.488													2	4	---	---	---	---						-	13441098	G	-	13441098	7	5	225	1	0	1	0	1	0	0	0	0	2556	1103	39	0	6478	0	CACNA1A	19	13441098	Frame_Shift_Del	DEL	G	TCGA-J4-A67O-01A-11D-A30E-08		13441098	45687885	23	10524											
CYP4F8	11283	broad.mit.edu	37	chr19	15733290	15733291	+	RNA	DEL	GA	GA	-																															aggacaaagaaggagagaagGagagagagagagagcgagag																										TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chr19:15733290_15733291delGA	ENST00000441682.2	+	0	708							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						aggagagaaggagagagagaga	0.515													4	2	---	---	---	---						-	15733291	GA	-	15733290	6	5	225	0	1	1	0	1	0	0	0	0	4214	1189	41	0		0	CYP4F8	19	15733290	RNA	DEL	GA	TCGA-J4-A67O-01A-11D-A30E-08	2292192	15733290	43395693	24	10525											
L1CAM	3897	broad.mit.edu	37	chrX	153136389	153136389	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttctggcccatcgtcacccGctcgtcctgcttgatgtgca	4	12	10	15	3	2	1	1	1	1	0	5	1	3	1	3	1	2	4	3	1	0	2			TCGA-J4-A67O-01A-11D-A30E-08	TCGA-J4-A67O-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86a0580e-36fc-4afd-ae47-966d6b1dc108	f8e39928-9a59-4e5a-ba1e-f22910129528	g.chrX:153136389G>A	ENST00000370060.1	-	7	739	c.550C>T	c.(550-552)Cgg>Tgg	p.R184W	L1CAM_ENST00000538883.1_Missense_Mutation_p.R186W|L1CAM_ENST00000370057.3_Missense_Mutation_p.R184W|L1CAM_ENST00000543994.1_Missense_Mutation_p.R186W|L1CAM_ENST00000361699.4_Missense_Mutation_p.R184W|L1CAM_ENST00000370055.1_Missense_Mutation_p.R179W|L1CAM_ENST00000361981.3_Missense_Mutation_p.R179W	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	184	Ig-like C2-type 2.		R -> Q (in HSAS; severe).|R -> W (in HSAS).		axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ATCGTCACCCGCTCGTCCTGC	0.612													16	74					0	0	1	0	0	A	153136389	G	A	153136389	3	1	225	1	0	0	0	0	1	0	0	0	8627	1086	38	1	3315	1	L1CAM	23	153136389	Missense_Mutation	SNP	G	TCGA-J4-A67O-01A-11D-A30E-08		153136389	2134171	25	10526											
COL16A1	1307	broad.mit.edu	37	chr1	32120919	32120919	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cagccttcccccttaccatgGagccaggcacaccaggcaag	10	5	9	17	0	0	0	0	0	0	0	1	1	1	1	6	3	3	2	6	3	2	2			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr1:32120919G>A	ENST00000373672.3	-	67	4802	c.4286C>T	c.(4285-4287)tCc>tTc	p.S1429F	COL16A1_ENST00000461217.1_5'UTR|RP11-73M7.6_ENST00000587445.1_RNA|RP11-73M7.6_ENST00000585660.1_RNA|RP11-73M7.6_ENST00000585413.1_RNA|COL16A1_ENST00000271069.6_Missense_Mutation_p.S1429F|RP11-73M7.6_ENST00000593188.1_RNA|RP11-73M7.6_ENST00000591929.1_RNA|RP11-73M7.6_ENST00000591592.1_RNA|RP11-73M7.6_ENST00000589462.1_RNA	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	1429	Triple-helical region 2 (COL2) with 2 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CCTTACCATGGAGCCAGGCAC	0.652													11	62					0	0	1	0	0	A	32120919	G	A	32120919	3	1	226	1	0	0	0	0	1	0	0	0	3696	1174	41	2	548	2	COL16A1	1	32120919	Missense_Mutation	SNP	G	TCGA-J4-A67Q-01A-21D-A30E-08		32120919	217129702	1	10527											
NFASC	23114	broad.mit.edu	37	chr1	204951036	204951036	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagtgtggggctctcgctaCgtggtggggcagaccccagt	6	8	16	11	2	1	1	0	0	1	1	2	1	1	1	2	5	1	3	2	5	1	1			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr1:204951036C>T	ENST00000367172.4	+	21	2686	c.2358C>T	c.(2356-2358)taC>taT	p.Y786Y	NFASC_ENST00000367169.4_Silent_p.Y786Y|NFASC_ENST00000339876.6_Silent_p.Y786Y|NFASC_ENST00000404076.1_Silent_p.Y765Y|NFASC_ENST00000539706.1_Silent_p.Y782Y|NFASC_ENST00000360049.4_Silent_p.Y782Y|NFASC_ENST00000404907.1_Silent_p.Y782Y|NFASC_ENST00000338586.6_Silent_p.Y786Y|NFASC_ENST00000513543.1_Silent_p.Y782Y|NFASC_ENST00000401399.1_Silent_p.Y786Y|NFASC_ENST00000367170.4_Silent_p.Y786Y|NFASC_ENST00000367171.4_Silent_p.Y771Y|NFASC_ENST00000338515.6_Silent_p.Y786Y			O94856	NFASC_HUMAN	neurofascin	786	Fibronectin type-III 2.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GCTCTCGCTACGTGGTGGGGC	0.602													12	50					0	0	1	0	0	T	204951036	C	T	204951036	2	4	226	1	0	0	0	0	0	0	0	1	10406	547	19	1		1	NFASC	1	204951036	Silent	SNP	C	TCGA-J4-A67Q-01A-21D-A30E-08	172830117	204951036	44299585	2	10528											
RYBP	23429	broad.mit.edu	37	chr3	72427735	72427735	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatgacggtgacgttgcccAcagttactgccaactgctgt	9	11	10	11	2	0	2	0	2	0	0	0	2	0	2	2	1	5	3	2	1	3	3			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr3:72427735A>C	ENST00000477973.1	-	4	752	c.753T>G	c.(751-753)tgT>tgG	p.C251W		NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN	RING1 and YY1 binding protein	0					apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			prostate(1)|upper_aerodigestive_tract(1)	2		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)		GACGTTGCCCACAGTTACTGC	0.512													8	83					0	0	1	0	0	C	72427735	A	C	72427735	3	2	226	1	0	0	0	0	1	0	0	0	13818	159	6	5	202	5	RYBP	3	72427735	Missense_Mutation	SNP	A	TCGA-J4-A67Q-01A-21D-A30E-08		72427735	125594695	3	10529											
HNRNPAB	3182	broad.mit.edu	37	chr5	177636394	177636394	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagtatggctctgggggcCgtggaaaccgcaaccgaggg	9	5	17	10	3	1	0	0	0	1	0	1	2	1	1	3	5	3	4	3	5	3	1			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr5:177636394C>T	ENST00000358344.3	+	6	990	c.733C>T	c.(733-735)Cgt>Tgt	p.R245C	HNRNPAB_ENST00000506339.1_Missense_Mutation_p.R245C|HNRNPAB_ENST00000515193.1_Missense_Mutation_p.R245C|PHYKPL_ENST00000308158.5_Intron|HNRNPAB_ENST00000514633.1_Missense_Mutation_p.R245C|HNRNPAB_ENST00000504898.1_Missense_Mutation_p.R245C|PHYKPL_ENST00000481811.1_Intron|HNRNPAB_ENST00000355836.5_Missense_Mutation_p.R245C|HNRNPAB_ENST00000506259.1_Missense_Mutation_p.R245C	NM_031266.2	NP_112556.2	Q99729	ROAA_HUMAN	heterogeneous nuclear ribonucleoprotein A/B	245	Gly-rich.				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			large_intestine(4)|prostate(1)|urinary_tract(1)	6						CTCTGGGGGCCGTGGAAACCG	0.572													9	89					0	0	1	0	0	T	177636394	C	T	177636394	3	4	226	1	0	0	0	0	1	0	0	0	7302	652	23	1	751	1	HNRNPAB	5	177636394	Missense_Mutation	SNP	C	TCGA-J4-A67Q-01A-21D-A30E-08		177636394	3278866	4	10530											
CRIP3	401262	broad.mit.edu	37	chr6	43275384	43275384	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggaggccagtccttggcctGggagggctgaagctgctggg	5	7	20	9	0	0	1	0	1	0	0	1	3	1	3	3	6	2	3	3	6	1	1			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr6:43275384G>C	ENST00000372569.3	-	4	298	c.294C>G	c.(292-294)ccC>ccG	p.P98P	ZNF318_ENST00000607252.1_5'UTR|CRIP3_ENST00000274990.4_Silent_p.P98P	NM_206922.2	NP_996805.2	Q6Q6R5	CRIP3_HUMAN	cysteine-rich protein 3	98						cytoplasm	zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			TCCTTGGCCTGGGAGGGCTGA	0.632													13	68					0	0	1	0	0	C	43275384	G	C	43275384	2	2	226	1	0	0	0	0	0	0	0	1	3899	1335	47	4		4	CRIP3	6	43275384	Silent	SNP	G	TCGA-J4-A67Q-01A-21D-A30E-08		43275384	127839683	5	10531											
SF3B5	83443	broad.mit.edu	37	chr6	144416413	144416413	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggctggcggtccacaaggCtgaagcatcttttccatcaa	9	10	10	12	2	2	1	1	1	1	0	5	1	4	1	2	4	1	3	2	4	3	2			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr6:144416413C>G	ENST00000367569.2	-	1	341	c.222G>C	c.(220-222)caG>caC	p.Q74H		NM_031287.2	NP_112577.1	Q9BWJ5	SF3B5_HUMAN	splicing factor 3b, subunit 5, 10kDa	74					nuclear mRNA splicing, via spliceosome	nucleoplasm|U12-type spliceosomal complex				lung(2)|prostate(1)	3				OV - Ovarian serous cystadenocarcinoma(155;1.68e-06)|GBM - Glioblastoma multiforme(68;0.0638)		GTCCACAAGGCTGAAGCATCT	0.572													28	125					0	0	1	0	0	G	144416413	C	G	144416413	3	3	226	1	0	0	0	0	1	0	0	0	14208	796	28	4	42	4	SF3B5	6	144416413	Missense_Mutation	SNP	C	TCGA-J4-A67Q-01A-21D-A30E-08	101141029	144416413	26698654	6	10532											
TBL2	26608	broad.mit.edu	37	chr7	72988435	72988435	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgctaaagtccatgcaagaTatgttcccgctgtggctcta	9	12	9	11	1	1	1	0	0	1	1	3	1	3	1	2	1	2	5	2	1	5	4			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr7:72988435T>A	ENST00000305632.5	-	3	520	c.279A>T	c.(277-279)atA>atT	p.I93I	TBL2_ENST00000459913.1_5'UTR|TBL2_ENST00000432538.1_Silent_p.I57I|TBL2_ENST00000452475.1_Silent_p.I93I	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	93										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				CCATGCAAGATATGTTCCCGC	0.582													11	56					0	0	1	0	0	A	72988435	T	A	72988435	2	1	226	1	0	0	0	0	0	0	0	1	15702	1396	49	5		5	TBL2	7	72988435	Silent	SNP	T	TCGA-J4-A67Q-01A-21D-A30E-08		72988435	86150228	7	10533											
LMOD2	442721	broad.mit.edu	37	chr7	123301995	123301997	+	In_Frame_Del	DEL	GAG	GAG	-																															tttctgaggaagtgtatacaGaggaggaggaggaggagtcc																										TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr7:123301995_123301997delGAG	ENST00000458573.2	+	2	512_514	c.355_357delGAG	c.(355-357)del	p.E124del	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	124	Glu-rich.					cytoskeleton	actin binding|tropomyosin binding										AGTGTATACAgaggaggaggagg	0.409													3	5	---	---	---	---						-	123301997	GAG	-	123301995	7	5	226	1	0	1	0	1	0	0	0	0	8898	943	33	0	361	0	LMOD2	7	123301995	In_Frame_Del	DEL	GAG	TCGA-J4-A67Q-01A-21D-A30E-08	50313560	123301995	35836668	8	10534											
MYOM2	9172	broad.mit.edu	37	chr8	2021549	2021549	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcgtgtctcggggcggcgtCagcgaccacagcgccttcct	5	8	13	15	6	2	0	1	0	1	0	5	1	3	0	3	3	2	0	3	3	0	1			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr8:2021549C>T	ENST00000262113.4	+	10	1230	c.1089C>T	c.(1087-1089)gtC>gtT	p.V363V	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	363	Ig-like C2-type 2.		V -> I (in dbSNP:rs34316994).		muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GGGGCGGCGTCAGCGACCACA	0.652													12	39					0	0	1	0	0	T	2021549	C	T	2021549	2	4	226	1	0	0	0	0	0	0	0	1	10140	813	29	2		2	MYOM2	8	2021549	Silent	SNP	C	TCGA-J4-A67Q-01A-21D-A30E-08		2021549	144342473	9	10535											
KLHL9	55958	broad.mit.edu	37	chr9	21334407	21334408	+	Frame_Shift_Del	DEL	AA	AA	-																															caacctcaacacagttatccAaagagactcctgatataaga																										TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr9:21334407_21334408delAA	ENST00000359039.4	-	1	971_972	c.451_452delTT	c.(451-453)gfs	p.L151fs	KLHL9_ENST00000537938.1_Frame_Shift_Del_p.L83fs			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	151					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		ACAGTTATCCAAAGAGACTCCT	0.337													9	44	---	---	---	---						-	21334408	AA	-	21334407	7	5	226	1	0	1	0	1	0	0	0	0	8439	131	5	0	1405	0	KLHL9	9	21334407	Frame_Shift_Del	DEL	AA	TCGA-J4-A67Q-01A-21D-A30E-08		21334407	119879024	10	10536											
KIAA1161	57462	broad.mit.edu	37	chr9	34372001	34372001	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	atgtggaccaaatggggtctCggaaggcctcgggtgctggc	7	8	17	9	2	1	0	0	0	1	0	3	2	1	2	2	7	1	1	2	7	2	0			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr9:34372001C>G	ENST00000297625.7	-	2	1064	c.839G>C	c.(838-840)cGa>cCa	p.R280P		NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161	314					carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		AATGGGGTCTCGGAAGGCCTC	0.612													10	61					0	0	1	0	0	G	34372001	C	G	34372001	3	3	226	1	0	0	0	0	1	0	0	0	8253	884	31	4	1207	4	KIAA1161	9	34372001	Missense_Mutation	SNP	C	TCGA-J4-A67Q-01A-21D-A30E-08	13037594	34372001	106841430	11	10537											
TLE4	7091	broad.mit.edu	37	chr9	82339965	82339965	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcctagtccaaagaatcctCatcggtgcttagctgtgaca	10	12	8	11	1	1	2	1	1	0	1	5	2	4	2	3	1	2	2	3	1	4	3			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr9:82339965C>T	ENST00000376520.4	+	21	3152	c.2324C>T	c.(2323-2325)tCa>tTa	p.S775L	TLE4_ENST00000376534.4_Missense_Mutation_p.S380L|TLE4_ENST00000376537.4_Missense_Mutation_p.S775L|TLE4_ENST00000376544.3_Missense_Mutation_p.S674L|TLE4_ENST00000376552.2_Missense_Mutation_p.S743L|TLE4_ENST00000265284.6_Missense_Mutation_p.S718L			O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						AAAGAATCCTCATCGGTGCTT	0.368													7	63					0	0	1	0	0	T	82339965	C	T	82339965	3	4	226	1	0	0	0	0	1	0	0	0	16001	838	29	2	2306	2	TLE4	9	82339965	Missense_Mutation	SNP	C	TCGA-J4-A67Q-01A-21D-A30E-08	47967964	82339965	58873466	12	10538											
ROR2	4920	broad.mit.edu	37	chr9	94486363	94486363	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgggtctgatctggccctTcatggggatgaactggggct	6	11	15	9	0	3	2	1	2	2	0	3	3	3	3	1	6	1	1	1	6	1	1			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr9:94486363T>C	ENST00000375708.3	-	9	2611	c.2413A>G	c.(2413-2415)Aag>Gag	p.K805E	ROR2_ENST00000375715.1_Intron|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	805	Pro-rich.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						ATCTGGCCCTTCATGGGGATG	0.662													8	77					0	0	1	0	0	C	94486363	T	C	94486363	3	2	226	1	0	0	0	0	1	0	0	0	13579	1792	62	3	422	3	ROR2	9	94486363	Missense_Mutation	SNP	T	TCGA-J4-A67Q-01A-21D-A30E-08	12146398	94486363	46727068	13	10539											
ADAMTS14	140766	broad.mit.edu	37	chr10	72498708	72498708	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcgcggtcatgtgggggCggggtgcgatcccgcagccg	3	8	19	11	6	1	0	1	0	0	0	3	1	2	0	2	5	2	2	2	5	0	1			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr10:72498708C>T	ENST00000373208.1	+	11	1719	c.1719C>T	c.(1717-1719)ggC>ggT	p.G573G	ADAMTS14_ENST00000373207.1_Silent_p.G570G	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	570	TSP type-1 1.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CATGTGGGGGCGGGGTGCGAT	0.652													5	48					0	0	1	0	0	T	72498708	C	T	72498708	2	4	226	1	0	0	0	0	0	0	0	1	258	755	27	1		1	ADAMTS14	10	72498708	Silent	SNP	C	TCGA-J4-A67Q-01A-21D-A30E-08		72498708	63036039	14	10540											
KIF11	3832	broad.mit.edu	37	chr10	94413536	94413536	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcagattacctctgcgaGcccagatcaacctttaattc	12	10	7	12	1	2	3	1	0	1	3	3	4	2	3	3	0	5	1	3	0	3	4			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr10:94413536G>C	ENST00000260731.3	+	22	3244	c.3154G>C	c.(3154-3156)Gcc>Ccc	p.A1052P		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	1052					blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACCTCTGCGAGCCCAGATCAA	0.388													6	48					0	0	1	0	0	C	94413536	G	C	94413536	3	2	226	1	0	0	0	0	1	0	0	0	8314	971	34	4	3240	4	KIF11	10	94413536	Missense_Mutation	SNP	G	TCGA-J4-A67Q-01A-21D-A30E-08	21914828	94413536	41121211	15	10541											
C10orf12	26148	broad.mit.edu	37	chr10	98741523	98741523	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgccagctgtacacaaagcgGcaaatggacactcaagaacc	15	5	9	12	1	1	1	1	0	0	1	1	2	1	2	2	2	5	3	2	2	5	1			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr10:98741523G>A	ENST00000286067.2	+	1	483	c.376G>A	c.(376-378)Gca>Aca	p.A126T		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	126										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		ACACAAAGCGGCAAATGGACA	0.458													4	77					0	0	1	0	0	A	98741523	G	A	98741523	3	1	226	1	0	0	0	0	1	0	0	0	1593	1203	42	2	378	2	C10orf12	10	98741523	Missense_Mutation	SNP	G	TCGA-J4-A67Q-01A-21D-A30E-08	4327987	98741523	36793224	16	10542											
ATM	472	broad.mit.edu	37	chr11	108143527	108143527	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgaagtatttacacaatttCttgctgacaatcatcaccaa	15	13	4	9	0	3	2	2	2	1	0	3	2	3	2	1	0	2	2	1	0	6	5			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr11:108143527C>G	ENST00000278616.4	+	22	3617	c.3232C>G	c.(3232-3234)Ctt>Gtt	p.L1078V	ATM_ENST00000452508.2_Missense_Mutation_p.L1078V	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	1078					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TACACAATTTCTTGCTGACAA	0.388			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			6	56					0	0	1	0	0	G	108143527	C	G	108143527	3	3	226	1	0	0	0	0	1	0	0	0	1108	913	32	4	3314	4	ATM	11	108143527	Missense_Mutation	SNP	C	TCGA-J4-A67Q-01A-21D-A30E-08		108143527	26862989	17	10543											
LMO3	55885	broad.mit.edu	37	chr12	16704208	16704208	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaaaccttcctcgtagtccGtctggcaaaggatcatgtta	10	13	8	10	2	2	0	1	0	1	0	5	1	4	1	3	2	1	3	3	2	5	4	rs145877643		TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr12:16704208G>A	ENST00000320122.6	-	4	908	c.386C>T	c.(385-387)aCg>aTg	p.T129M	LMO3_ENST00000535535.1_Missense_Mutation_p.T129M|LMO3_ENST00000447609.1_Missense_Mutation_p.T129M|LMO3_ENST00000534946.1_Missense_Mutation_p.T129M|LMO3_ENST00000354662.1_Missense_Mutation_p.T129M|LMO3_ENST00000541846.1_Missense_Mutation_p.T129M|LMO3_ENST00000541295.1_Missense_Mutation_p.T147M|LMO3_ENST00000540848.1_Missense_Mutation_p.T129M|LMO3_ENST00000441439.2_Missense_Mutation_p.T129M|LMO3_ENST00000540445.1_Missense_Mutation_p.T151M|LMO3_ENST00000261169.6_Missense_Mutation_p.T140M|LMO3_ENST00000537304.1_Missense_Mutation_p.T129M	NM_001243611.1	NP_001230540.1	Q8TAP4	LMO3_HUMAN	LIM domain only 3 (rhombotin-like 2)	129	LIM zinc-binding 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent		zinc ion binding			endometrium(2)|large_intestine(2)|skin(1)	5		Hepatocellular(102;0.244)				CTCGTAGTCCGTCTGGCAAAG	0.348													5	74					0	0	1	0	0	A	16704208	G	A	16704208	3	1	226	1	0	0	0	0	1	0	0	0	8894	1145	40	1	55	1	LMO3	12	16704208	Missense_Mutation	SNP	G	TCGA-J4-A67Q-01A-21D-A30E-08		16704208	117147687	18	10544											
HELB	92797	broad.mit.edu	37	chr12	66703846	66703846	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacctccttggcatttatgtGtcgatgtcgaaaaggtgctt	9	14	10	8	2	0	0	0	0	0	0	3	2	1	0	2	2	2	2	2	2	4	4			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr12:66703846G>A	ENST00000247815.4	+	4	1197	c.1138G>A	c.(1138-1140)Gtc>Atc	p.V380I		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	380					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		GCATTTATGTGTCGATGTCGA	0.423													55	165					0	0	1	0	0	A	66703846	G	A	66703846	3	1	226	1	0	0	0	0	1	0	0	0	7086	1377	48	2	1152	2	HELB	12	66703846	Missense_Mutation	SNP	G	TCGA-J4-A67Q-01A-21D-A30E-08	49999638	66703846	67148049	19	10545											
OR4K2	390431	broad.mit.edu	37	chr14	20344654	20344654	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatatgtctcttgcttctttCgccaccccaaagatgattac	9	14	6	12	1	2	2	0	1	2	1	4	3	2	2	3	0	2	1	3	0	3	5			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr14:20344654C>T	ENST00000298642.2	+	1	264	c.228C>T	c.(226-228)ttC>ttT	p.F76F		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTGCTTCTTTCGCCACCCCAA	0.418													52	326					0	0	1	0	0	T	20344654	C	T	20344654	2	4	226	1	0	0	0	0	0	0	0	1	11120	883	31	1		1	OR4K2	14	20344654	Silent	SNP	C	TCGA-J4-A67Q-01A-21D-A30E-08		20344654	87004886	20	10546											
CCDC88C	440193	broad.mit.edu	37	chr14	91791146	91791146	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctgacaagtctgcgttcttgGacagctgctccagctcccag	7	10	10	14	1	2	1	0	1	2	0	4	2	4	2	2	1	4	4	2	1	1	2			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr14:91791146G>A	ENST00000389857.6	-	12	1405	c.1319C>T	c.(1318-1320)tCc>tTc	p.S440F		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	440					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TGCGTTCTTGGACAGCTGCTC	0.612													6	111					0	0	1	0	0	A	91791146	G	A	91791146	3	1	226	1	0	0	0	0	1	0	0	0	2885	1174	41	2	4843	2	CCDC88C	14	91791146	Missense_Mutation	SNP	G	TCGA-J4-A67Q-01A-21D-A30E-08	71446492	91791146	15558394	21	10547											
DYNC1H1	1778	broad.mit.edu	37	chr14	102452709	102452709	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacctcggtgtctcggggcGcattttcaccatcgaaagta	9	10	10	12	4	2	0	1	0	1	0	5	1	2	0	2	3	1	2	2	3	3	3			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr14:102452709G>A	ENST00000360184.4	+	8	2311	c.2147G>A	c.(2146-2148)cGc>cAc	p.R716H		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	716	Interaction with DYNC1LI2 (By similarity).|Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GTCTCGGGGCGCATTTTCACC	0.502													3	41					0	0	1	0	0	A	102452709	G	A	102452709	3	1	226	1	0	0	0	0	1	0	0	0	4867	1087	38	1	2177	1	DYNC1H1	14	102452709	Missense_Mutation	SNP	G	TCGA-J4-A67Q-01A-21D-A30E-08	10661563	102452709	4896831	22	10548											
SLC24A5	283652	broad.mit.edu	37	chr15	48414122	48414122	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtttttcacgagacaggagCgcagagatggaggcatcata	12	8	14	7	2	2	2	2	0	0	2	2	6	2	4	0	4	1	3	0	4	1	3			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr15:48414122C>T	ENST00000482911.2	+	2	231	c.190C>T	c.(190-192)Cgc>Tgc	p.R64C	SLC24A5_ENST00000341459.3_Missense_Mutation_p.R64C|SLC24A5_ENST00000449382.2_Intron			Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	64					response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	p.R64S(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		GAGACAGGAGCGCAGAGATGG	0.413													4	107					0	0	1	0	0	T	48414122	C	T	48414122	3	4	226	1	0	0	0	0	1	0	0	0	14524	768	27	1	196	1	SLC24A5	15	48414122	Missense_Mutation	SNP	C	TCGA-J4-A67Q-01A-21D-A30E-08		48414122	54117270	23	10549											
RAB11FIP3	9727	broad.mit.edu	37	chr16	570797	570797	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacatcgacaggatcatcgtGgccatcatggagaccaaccc	12	7	9	13	2	2	1	2	0	0	1	4	4	2	2	3	3	2	0	3	3	2	1			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr16:570797G>A	ENST00000262305.4	+	14	2617	c.2229G>A	c.(2227-2229)gtG>gtA	p.V743V	RAB11FIP3_ENST00000457159.1_Silent_p.V788V|RAB11FIP3_ENST00000450428.1_Silent_p.V447V	NM_014700.3	NP_055515.1	O75154	RFIP3_HUMAN	RAB11 family interacting protein 3 (class II)	743	FIP-RBD.				cell cycle|cytokinesis|endocytic recycling|protein transport	centrosome|cleavage furrow|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				GGATCATCGTGGCCATCATGG	0.577													21	61					0	0	1	0	0	A	570797	G	A	570797	2	1	226	1	0	0	0	0	0	0	0	1	12947	1335	47	2		2	RAB11FIP3	16	570797	Silent	SNP	G	TCGA-J4-A67Q-01A-21D-A30E-08		570797	89783956	24	10550											
FAM96B	51647	broad.mit.edu	37	chr16	66967968	66967968	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattgatggagcgaatcagAtgtgggaagtgaaggaaaag	15	8	15	3	1	2	3	2	2	0	1	2	7	2	6	0	3	1	0	0	3	5	1			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr16:66967968A>T	ENST00000422424.2	-	2	179	c.142_splice	c.e2-1	p.D48_splice		NM_016062.3	NP_057146.1	Q9Y3D0	MIP18_HUMAN	family with sequence similarity 96, member B	48					chromosome segregation	cytoplasm|MMXD complex|nucleus	protein binding			kidney(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		AGCGAATCAGATGTGGGAAGT	0.582													6	22					0	0	1	0	0	T	66967968	A	T	66967968	5	4	226	1	0	0	0	0	0	0	1	0	5688	347	12	5	363	5	FAM96B	16	66967968	Splice_Site	SNP	A	TCGA-J4-A67Q-01A-21D-A30E-08	66397171	66967968	23386785	25	10551											
DEF8	54849	broad.mit.edu	37	chr16	90028248	90028248	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccctgcacgcgttgtacaCaactgggactttgagcctcg	8	10	10	13	3	0	1	0	1	0	0	2	2	1	2	2	1	4	3	2	1	2	3			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr16:90028248C>G	ENST00000563594.1	+	8	1780	c.783C>G	c.(781-783)caC>caG	p.H261Q	DEF8_ENST00000563795.1_Missense_Mutation_p.H261Q|DEF8_ENST00000567874.1_Missense_Mutation_p.H201Q|DEF8_ENST00000569453.1_Missense_Mutation_p.H261Q|DEF8_ENST00000570182.1_Missense_Mutation_p.H251Q|DEF8_ENST00000268676.7_Missense_Mutation_p.H322Q|DEF8_ENST00000563848.1_3'UTR	NM_001242818.1|NM_001242819.1	NP_001229747.1|NP_001229748.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)	322					intracellular signal transduction		zinc ion binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		GCGTTGTACACAACTGGGACT	0.637													3	56					0	0	1	0	0	G	90028248	C	G	90028248	3	3	226	1	0	0	0	0	1	0	0	0	4410	477	17	4	1072	4	DEF8	16	90028248	Missense_Mutation	SNP	C	TCGA-J4-A67Q-01A-21D-A30E-08	23060280	90028248	326505	26	10552											
HOXB13	10481	broad.mit.edu	37	chr17	46805666	46805666	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctgggcacagggtttcAgcgagctccgggacactcgg	6	7	15	13	3	1	0	1	0	0	0	3	2	2	1	2	4	3	3	2	4	0	1			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr17:46805666A>G	ENST00000290295.7	-	1	874	c.290T>C	c.(289-291)cTg>cCg	p.L97P		NM_006361.5	NP_006352.2	Q92826	HXB13_HUMAN	homeobox B13	97					angiogenesis|epidermis development|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|lung(6)|prostate(1)	11						ACAGGGTTTCAGCGAGCTCCG	0.672													20	127					0	0	1	0	0	G	46805666	A	G	46805666	3	3	226	1	0	0	0	0	1	0	0	0	7341	188	7	3	572	3	HOXB13	17	46805666	Missense_Mutation	SNP	A	TCGA-J4-A67Q-01A-21D-A30E-08		46805666	34389544	27	10553											
ALPK2	115701	broad.mit.edu	37	chr18	56246844	56246844	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accataggcccagcgtcaccCgacacccgagacccacaacc	12	2	7	20	3	1	1	1	0	0	1	1	3	1	1	6	1	2	0	6	1	2	1	rs78302914	byFrequency	TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr18:56246844C>T	ENST00000361673.3	-	4	1377	c.1164G>A	c.(1162-1164)tcG>tcA	p.S388S		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	388							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CAGCGTCACCCGACACCCGAG	0.547											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	69					0	0	1	0	0	T	56246844	C	T	56246844	2	4	226	1	0	0	0	0	0	0	0	1	541	639	23	1		1	ALPK2	18	56246844	Silent	SNP	C	TCGA-J4-A67Q-01A-21D-A30E-08		56246844	21830404	28	10554											
KRTAP13-3	337960	broad.mit.edu	37	chr21	31798058	31798058	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgggcctccagcaggtcTcctgacagcccctatagaga	8	9	11	13	0	1	2	0	1	1	1	3	3	2	2	5	2	2	2	5	2	2	3			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr21:31798058T>C	ENST00000390690.2	-	1	228	c.173A>G	c.(172-174)gAg>gGg	p.E58G		NM_181622.1	NP_853653.1	Q3SY46	KR133_HUMAN	keratin associated protein 13-3	58	5 X 10 AA approximate repeats.					intermediate filament				endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	14						CCAGCAGGTCTCCTGACAGCC	0.582													4	100					0	0	1	0	0	C	31798058	T	C	31798058	3	2	226	1	0	0	0	0	1	0	0	0	8567	1551	54	3	349	3	KRTAP13-3	21	31798058	Missense_Mutation	SNP	T	TCGA-J4-A67Q-01A-21D-A30E-08		31798058	16331837	29	10555											
SIM2	6493	broad.mit.edu	37	chr21	38114059	38114059	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaccaagtactaccggctgCtgtccaagcggggcggctgg	7	6	14	14	3	0	0	0	0	0	0	1	0	1	0	4	5	4	4	4	5	4	2			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr21:38114059C>T	ENST00000290399.6	+	8	1505	c.892C>T	c.(892-894)Ctg>Ttg	p.L298L	SIM2_ENST00000430056.3_Silent_p.L298L	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	298	PAC.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						CTACCGGCTGCTGTCCAAGCG	0.627													3	25					0	0	1	0	0	T	38114059	C	T	38114059	2	4	226	1	0	0	0	0	0	0	0	1	14379	796	28	2		2	SIM2	21	38114059	Silent	SNP	C	TCGA-J4-A67Q-01A-21D-A30E-08	6316001	38114059	10015836	30	10556											
ZBTB48	3104	broad.mit.edu	37	chr1	6649154	6649154	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggagtccctggcccagggcgGcctggcctcccagctccccg	3	5	14	19	2	0	0	0	0	0	0	3	1	3	1	7	5	1	1	7	5	0	0			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr1:6649154G>A	ENST00000377674.4	+	11	2107	c.1949G>A	c.(1948-1950)gGc>gAc	p.G650D		NM_001278647.1|NM_001278648.1|NM_005341.2	NP_001265576.1|NP_001265577.1|NP_005332.1	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	650						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		GCCCAGGGCGGCCTGGCCTCC	0.672													5	175					0	0	1	0	0	A	6649154	G	A	6649154	3	1	227	1	0	0	0	0	1	0	0	0	17608	1203	42	2	1987	2	ZBTB48	1	6649154	Missense_Mutation	SNP	G	TCGA-J4-A67R-01A-21D-A30E-08		6649154	242601467	1	10557											
FBXO42	54455	broad.mit.edu	37	chr1	16577790	16577790	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	catccatgggattactactgGaagcgggtttcagatcccaa	11	10	10	10	1	1	1	1	0	0	1	3	3	3	3	2	3	3	1	2	3	4	3			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr1:16577790G>A	ENST00000375592.3	-	10	1745	c.1529C>T	c.(1528-1530)tCc>tTc	p.S510F		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	510										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		ATTACTACTGGAAGCGGGTTT	0.483													17	161					0	0	1	0	0	A	16577790	G	A	16577790	3	1	227	1	0	0	0	0	1	0	0	0	5784	1174	41	2	628	2	FBXO42	1	16577790	Missense_Mutation	SNP	G	TCGA-J4-A67R-01A-21D-A30E-08	9928636	16577790	232672831	2	10558											
C1orf173	127254	broad.mit.edu	37	chr1	75107127	75107127	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgttattttcaacagacCttcttgtgtgctctccctag	7	16	7	11	0	3	1	1	0	2	1	4	1	3	1	2	0	2	3	2	0	3	6			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr1:75107127C>A	ENST00000326665.5	-	5	550	c.332G>T	c.(331-333)aGg>aTg	p.R111M		NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	111										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TTCAACAGACCTTCTTGTGTG	0.408													7	105					8.12818e-05	8.50333e-05	1	1	0	A	75107127	C	A	75107127	3	1	227	1	0	0	0	0	1	0	0	0	2027	681	24	4	4300	4	C1orf173	1	75107127	Missense_Mutation	SNP	C	TCGA-J4-A67R-01A-21D-A30E-08	58529337	75107127	174143494	3	10559											
CD1D	912	broad.mit.edu	37	chr1	158151489	158151489	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accagggacgtgaaggaattCgccaaaatgctacgcttatc	13	8	10	10	3	0	1	0	1	0	0	2	3	0	3	2	2	2	2	2	2	6	3			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr1:158151489C>T	ENST00000368171.3	+	3	805	c.306C>T	c.(304-306)ttC>ttT	p.F102F		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	102					antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					TGAAGGAATTCGCCAAAATGC	0.557													9	133					0	0	1	0	0	T	158151489	C	T	158151489	2	4	227	1	0	0	0	0	0	0	0	1	2999	883	31	1		1	CD1D	1	158151489	Silent	SNP	C	TCGA-J4-A67R-01A-21D-A30E-08	83044362	158151489	91099132	4	10560											
ZNF638	27332	broad.mit.edu	37	chr2	71649963	71649963	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccctggcttgaaaaacagtCcaattgatgaaagtgaggtg	13	9	12	7	0	0	4	0	4	0	0	1	4	1	4	2	2	1	1	2	2	4	2			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr2:71649963C>A	ENST00000409544.1	+	22	3949	c.3319C>A	c.(3319-3321)Cca>Aca	p.P1107T	ZNF638_ENST00000355812.3_Intron|ZNF638_ENST00000264447.4_Missense_Mutation_p.P1107T|ZNF638_ENST00000409407.1_Missense_Mutation_p.P47T	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1107	Glu-rich.				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						GAAAAACAGTCCAATTGATGA	0.338													4	124					0.217242	0.217242	1	1	0	A	71649963	C	A	71649963	3	1	227	1	0	0	0	0	1	0	0	0	18112	855	30	4	3401	4	ZNF638	2	71649963	Missense_Mutation	SNP	C	TCGA-J4-A67R-01A-21D-A30E-08		71649963	171549410	5	10561											
POTEE	445582	broad.mit.edu	37	chr2	131976470	131976470	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatgctcagggacactgaCgtgaacaagaaggacaagca	15	5	12	9	1	2	3	2	2	0	1	2	5	2	5	0	2	3	2	0	2	4	0			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr2:131976470C>T	ENST00000356920.5	+	1	589	c.495C>T	c.(493-495)gaC>gaT	p.D165D	PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_Silent_p.D165D|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	165							ATP binding										GGGACACTGACGTGAACAAGA	0.592													16	443					0	0	1	0	0	T	131976470	C	T	131976470	2	4	227	1	0	0	0	0	0	0	0	1	12311	535	19	1		1	POTEE	2	131976470	Silent	SNP	C	TCGA-J4-A67R-01A-21D-A30E-08	60326507	131976470	111222903	6	10562											
PDHA2	5161	broad.mit.edu	37	chr4	96762205	96762205	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggagtcagttatcgtacaCgagaagaaattcaggaagta	15	9	11	6	2	2	2	2	0	0	2	3	5	2	4	0	2	1	3	0	2	6	4			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr4:96762205C>T	ENST00000295266.4	+	1	967	c.904C>T	c.(904-906)Cga>Tga	p.R302*		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	302					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	TTATCGTACACGAGAAGAAAT	0.423													15	136					0	0	1	0	0	T	96762205	C	T	96762205	4	4	227	1	0	0	0	0	0	1	0	0	11712	528	19	1	906	1	PDHA2	4	96762205	Nonsense_Mutation	SNP	C	TCGA-J4-A67R-01A-21D-A30E-08		96762205	94392071	7	10563											
HADH	3033	broad.mit.edu	37	chr4	108953498	108953498	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aacagacttccaaacgtgtgGtgattctaactcgggtttgg	10	12	11	8	2	1	2	0	1	1	1	3	2	2	2	1	3	3	1	1	3	3	4			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr4:108953498G>A	ENST00000403312.1	+	7	944	c.902G>A	c.(901-903)gGt>gAt	p.G301D	HADH_ENST00000505878.1_Intron|HADH_ENST00000454409.2_Intron|HADH_ENST00000510728.1_Intron|HADH_ENST00000309522.3_Intron|HADH_ENST00000603302.1_Missense_Mutation_p.G242D	NM_001184705.2	NP_001171634.2	Q16836	HCDH_HUMAN	hydroxyacyl-CoA dehydrogenase	236					fatty acid beta-oxidation	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|NAD+ binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	15		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000168)	NADH(DB00157)	CAAACGTGTGGTGATTCTAAC	0.423													8	358					0	0	1	0	0	A	108953498	G	A	108953498	3	1	227	1	0	0	0	0	1	0	0	0	6983	1261	44	2	751	2	HADH	4	108953498	Missense_Mutation	SNP	G	TCGA-J4-A67R-01A-21D-A30E-08	12191293	108953498	82200778	8	10564											
HCN1	348980	broad.mit.edu	37	chr5	45645337	45645337	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttgaaagtcgtaataaacGcaagagactgagaatttttg	15	11	9	6	2	0	3	0	2	0	2	1	5	0	3	1	0	1	2	1	0	6	5			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr5:45645337G>A	ENST00000303230.4	-	2	856	c.799C>T	c.(799-801)Cgt>Tgt	p.R267C		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	267						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CGTAATAAACGCAAGAGACTG	0.313													7	52					0	0	1	0	0	A	45645337	G	A	45645337	3	1	227	1	0	0	0	0	1	0	0	0	7037	1087	38	1	1901	1	HCN1	5	45645337	Missense_Mutation	SNP	G	TCGA-J4-A67R-01A-21D-A30E-08		45645337	135269923	9	10565											
HK3	3101	broad.mit.edu	37	chr5	176310790	176310790	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgacaatgaggcctatctcGcaacgggggtcctcatagcc	9	7	11	14	3	2	1	1	1	1	0	4	2	3	1	4	3	2	1	4	3	4	2	rs140261586	byFrequency	TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr5:176310790G>A	ENST00000292432.5	-	15	2125	c.2034C>T	c.(2032-2034)tgC>tgT	p.C678C		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	678	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCCTATCTCGCAACGGGGGT	0.547													6	142					0	0	1	0	0	A	176310790	G	A	176310790	2	1	227	1	0	0	0	0	0	0	0	1	7233	1079	38	1		1	HK3	5	176310790	Silent	SNP	G	TCGA-J4-A67R-01A-21D-A30E-08	130665453	176310790	4604470	10	10566											
FLT4	2324	broad.mit.edu	37	chr5	180053141	180053141	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctccaggctgatgttgcGcctcaggccagcagcggagt	7	7	14	13	2	1	1	1	1	0	0	2	2	2	2	3	3	4	4	3	3	0	1			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr5:180053141G>A	ENST00000261937.6	-	9	1306	c.1228C>T	c.(1228-1230)Cgc>Tgc	p.R410C	FLT4_ENST00000502649.1_Missense_Mutation_p.R410C|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Missense_Mutation_p.R410C	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	410	Ig-like C2-type 4.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	CTGATGTTGCGCCTCAGGCCA	0.667													17	197					0	0	1	0	0	A	180053141	G	A	180053141	3	1	227	1	0	0	0	0	1	0	0	0	5977	1087	38	1	2959	1	FLT4	5	180053141	Missense_Mutation	SNP	G	TCGA-J4-A67R-01A-21D-A30E-08	3742351	180053141	862119	11	10567											
F13A1	2162	broad.mit.edu	37	chr6	6224992	6224992	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcagagctccggtattccaaTagaatgtcaacgcttccagt	11	11	8	11	2	2	2	2	0	0	2	5	2	5	2	3	1	2	3	3	1	5	4			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr6:6224992T>C	ENST00000264870.3	-	7	1165	c.900A>G	c.(898-900)ctA>ctG	p.L300L		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	300					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GGTATTCCAATAGAATGTCAA	0.478													5	254					0	0	1	0	0	C	6224992	T	C	6224992	2	2	227	1	0	0	0	0	0	0	0	1	5368	1393	49	3		3	F13A1	6	6224992	Silent	SNP	T	TCGA-J4-A67R-01A-21D-A30E-08		6224992	164890075	12	10568											
TRA2A	29896	broad.mit.edu	37	chr7	23561395	23561395	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgatggactacgagatcctGacctgctctccgattttaca	9	13	8	11	2	1	3	0	2	1	1	3	6	2	4	3	1	3	1	3	1	2	4			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr7:23561395G>A	ENST00000297071.4	-	2	317	c.101C>T	c.(100-102)tCa>tTa	p.S34L	TRA2A_ENST00000392502.4_5'UTR|TRA2A_ENST00000474586.1_5'UTR|TRA2A_ENST00000538367.1_5'UTR	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)	34	Arg/Ser-rich (RS1 domain).				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						ACGAGATCCTGACCTGCTCTC	0.418													4	140					0	0	1	0	0	A	23561395	G	A	23561395	3	1	227	1	0	0	0	0	1	0	0	0	16494	1294	45	2	775	2	TRA2A	7	23561395	Missense_Mutation	SNP	G	TCGA-J4-A67R-01A-21D-A30E-08		23561395	135577268	13	10569											
ZNF789	285989	broad.mit.edu	37	chr7	99084225	99084225	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actttcagaaaagttacataAgtgtaaagaatttgtggaca	17	12	8	4	0	1	2	1	0	0	2	1	3	1	3	0	1	1	2	0	1	7	5			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr7:99084225A>C	ENST00000331410.5	+	5	662	c.392A>C	c.(391-393)aAg>aCg	p.K131T	ZNF789_ENST00000448667.1_3'UTR|ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN	zinc finger protein 789	131					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AAGTTACATAAGTGTAAAGAA	0.368													25	161					0	0	1	0	0	C	99084225	A	C	99084225	3	2	227	1	0	0	0	0	1	0	0	0	18209	72	3	5	448	5	ZNF789	7	99084225	Missense_Mutation	SNP	A	TCGA-J4-A67R-01A-21D-A30E-08	75522830	99084225	60054438	14	10570											
LZTS1	11178	broad.mit.edu	37	chr8	20107496	20107496	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgccgctcctcccgcagctCggcccgcagccgctccagct	3	7	10	21	5	0	0	0	0	0	0	4	0	3	0	6	1	4	6	6	1	0	1			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr8:20107496C>T	ENST00000381569.1	-	4	1885	c.1528G>A	c.(1528-1530)Gag>Aag	p.E510K	LZTS1_ENST00000265801.6_Missense_Mutation_p.E510K|LZTS1_ENST00000522290.1_Intron			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	510					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		TCCCGCAGCTCGGCCCGCAGC	0.701													4	154					0	0	1	0	0	T	20107496	C	T	20107496	3	4	227	1	0	0	0	0	1	0	0	0	9184	893	31	1	266	1	LZTS1	8	20107496	Missense_Mutation	SNP	C	TCGA-J4-A67R-01A-21D-A30E-08		20107496	126256526	15	10571											
LRRC27	80313	broad.mit.edu	37	chr10	134158049	134158049	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acctaagacactgccctctgGaattccctcctcagctcgtt	8	11	6	16	1	2	1	1	0	1	1	5	2	4	2	4	1	2	2	4	1	2	3			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr10:134158049G>T	ENST00000392638.2	+	5	643	c.448G>T	c.(448-450)Gaa>Taa	p.E150*	LRRC27_ENST00000368613.4_Nonsense_Mutation_p.E150*|LRRC27_ENST00000368615.3_Nonsense_Mutation_p.E150*|LRRC27_ENST00000432555.2_Nonsense_Mutation_p.E23*|LRRC27_ENST00000356571.4_Missense_Mutation_p.G130V|LRRC27_ENST00000344079.5_Nonsense_Mutation_p.E150*|LRRC27_ENST00000368614.3_Nonsense_Mutation_p.E150*|LRRC27_ENST00000368612.1_Nonsense_Mutation_p.E88*|LRRC27_ENST00000368610.3_Nonsense_Mutation_p.E88*			Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	150										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		CTGCCCTCTGGAATTCCCTCC	0.498													12	189					3.07112e-06	3.26306e-06	1	1	0	T	134158049	G	T	134158049	4	4	227	1	0	0	0	0	0	1	0	0	9026	1175	41	4	462	4	LRRC27	10	134158049	Nonsense_Mutation	SNP	G	TCGA-J4-A67R-01A-21D-A30E-08		134158049	1376698	16	10572											
AP2A2	161	broad.mit.edu	37	chr11	977124	977124	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacagcgtgaagcagagcgCggccctgtgcttgctgcgcc	6	6	16	13	4	0	2	0	1	0	1	0	3	0	3	2	2	6	3	2	2	1	1			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr11:977124C>T	ENST00000448903.2	+	5	644	c.503C>T	c.(502-504)gCg>gTg	p.A168V	AP2A2_ENST00000332231.5_Missense_Mutation_p.A168V|AP2A2_ENST00000534328.1_Missense_Mutation_p.A168V	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	168					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		AAGCAGAGCGCGGCCCTGTGC	0.612													4	81					0	0	1	0	0	T	977124	C	T	977124	3	4	227	1	0	0	0	0	1	0	0	0	736	768	27	1	521	1	AP2A2	11	977124	Missense_Mutation	SNP	C	TCGA-J4-A67R-01A-21D-A30E-08		977124	134029392	17	10573											
OR56B1	387748	broad.mit.edu	37	chr11	5758619	5758619	+	Frame_Shift_Del	DEL	C	C	-																															aatgtgttgcacaacatcatCcccccttccctcaaccctac																										TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr11:5758619delC	ENST00000317121.3	+	1	939	c.873delC	c.(871-873)atfs	p.I291fs	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		ACAACATCATCCCCCCTTCCC	0.403													7	585	---	---	---	---						-	5758619	C	-	5758619	7	5	227	1	0	1	0	1	0	0	0	0	11184	845	30	0	875	0	OR56B1	11	5758619	Frame_Shift_Del	DEL	C	TCGA-J4-A67R-01A-21D-A30E-08	4781495	5758619	129247897	18	10574											
NUP160	23279	broad.mit.edu	37	chr11	47857211	47857211	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgtttcatacctgtcctcGttttggtgcatgcatgtata	6	19	8	8	1	1	0	1	0	0	0	3	0	2	0	2	1	3	5	2	1	3	7			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr11:47857211G>A	ENST00000378460.2	-	7	1139	c.1093C>T	c.(1093-1095)Cga>Tga	p.R365*	NUP160_ENST00000528071.1_Nonsense_Mutation_p.R251*|NUP160_ENST00000530326.1_Nonsense_Mutation_p.R251*	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	365					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						ACCTGTCCTCGTTTTGGTGCA	0.448													10	122					0	0	1	0	0	A	47857211	G	A	47857211	4	1	227	1	0	0	0	0	0	1	0	0	10805	1153	40	1	3337	1	NUP160	11	47857211	Nonsense_Mutation	SNP	G	TCGA-J4-A67R-01A-21D-A30E-08	42098592	47857211	87149305	19	10575											
A2M	2	broad.mit.edu	37	chr12	9243051	9243051	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgggacagctaggaaggCgggagaggcttccagctgca	10	5	16	10	1	0	1	0	0	0	1	1	4	1	3	1	5	3	4	1	5	2	2			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr12:9243051C>T	ENST00000318602.7	-	20	2804	c.2497G>A	c.(2497-2499)Gcc>Acc	p.A833T		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	833					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	GCTAGGAAGGCGGGAGAGGCT	0.532													12	137					0	0	1	0	0	T	9243051	C	T	9243051	3	4	227	1	0	0	0	0	1	0	0	0	4	768	27	1	1995	1	A2M	12	9243051	Missense_Mutation	SNP	C	TCGA-J4-A67R-01A-21D-A30E-08		9243051	124608844	20	10576											
CD69	969	broad.mit.edu	37	chr12	9913395	9913395	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaagagctgttctctgctaCgaaacaattttcagagctca	13	11	7	10	1	3	2	2	0	1	2	4	3	3	2	0	0	5	4	0	0	4	4			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr12:9913395C>T	ENST00000228434.3	-	1	102	c.22G>A	c.(22-24)Gta>Ata	p.V8I	CD69_ENST00000536709.1_Missense_Mutation_p.V8I	NM_001781.2	NP_001772.1	Q07108	CD69_HUMAN	CD69 molecule	8						integral to plasma membrane	sugar binding|transmembrane receptor activity			endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10						TTCTCTGCTACGAAACAATTT	0.393													4	174					0	0	1	0	0	T	9913395	C	T	9913395	3	4	227	1	0	0	0	0	1	0	0	0	3053	536	19	1	597	1	CD69	12	9913395	Missense_Mutation	SNP	C	TCGA-J4-A67R-01A-21D-A30E-08	670344	9913395	123938500	21	10577											
FAM124A	220108	broad.mit.edu	37	chr13	51825914	51825914	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccacaccgagcaggtgcaCggccggttcctgccctacct	7	6	10	18	3	0	0	0	0	0	0	1	1	1	0	6	3	4	3	6	3	1	2			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr13:51825914C>T	ENST00000322475.8	+	3	546	c.411C>T	c.(409-411)caC>caT	p.H137H	FAM124A_ENST00000280057.6_Silent_p.H173H	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	137										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		AGCAGGTGCACGGCCGGTTCC	0.672													4	16					0	0	1	0	0	T	51825914	C	T	51825914	2	4	227	1	0	0	0	0	0	0	0	1	5456	535	19	1		1	FAM124A	13	51825914	Silent	SNP	C	TCGA-J4-A67R-01A-21D-A30E-08		51825914	63343964	22	10578											
OR5AU1	390445	broad.mit.edu	37	chr14	21623156	21623156	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcttcacatccttgtttctCaaagagtacatgagggggtt	9	15	9	8	0	3	2	2	1	2	1	5	2	4	2	1	2	1	3	1	2	2	6			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr14:21623156C>T	ENST00000304418.3	-	1	1066	c.1029G>A	c.(1027-1029)ttG>ttA	p.L343L		NM_001004731.1	NP_001004731.1	Q8NGC0	O5AU1_HUMAN	olfactory receptor, family 5, subfamily AU, member 1	343					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		CCTTGTTTCTCAAAGAGTACA	0.463													19	133					0	0	1	0	0	T	21623156	C	T	21623156	2	4	227	1	0	0	0	0	0	0	0	1	11194	825	29	2		2	OR5AU1	14	21623156	Silent	SNP	C	TCGA-J4-A67R-01A-21D-A30E-08		21623156	85726384	23	10579											
PAX9	5083	broad.mit.edu	37	chr14	37132662	37132662	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tccccggttcggtggccatgCcgcgcacctggccctcctcg	2	8	12	19	5	0	0	0	0	0	0	4	0	2	0	7	4	1	2	7	4	0	1			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr14:37132662C>T	ENST00000361487.6	+	2	790	c.565C>T	c.(565-567)Ccg>Tcg	p.P189S	PAX9_ENST00000402703.2_Missense_Mutation_p.P189S|PAX9_ENST00000554201.1_Missense_Mutation_p.P2S			P55771	PAX9_HUMAN	paired box 9	189	Interaction with KDM5B.				multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3)	12	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		GGTGGCCATGCCGCGCACCTG	0.682													4	117					0	0	1	0	0	T	37132662	C	T	37132662	3	4	227	1	0	0	0	0	1	0	0	0	11533	739	26	2	571	2	PAX9	14	37132662	Missense_Mutation	SNP	C	TCGA-J4-A67R-01A-21D-A30E-08	15509506	37132662	70216878	24	10580											
CYP1A1	1543	broad.mit.edu	37	chr15	75013055	75013055	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcacttaacaccttgtcgatAgcaccatcaggggtgagaaa	13	9	9	10	1	2	1	2	1	0	1	3	3	2	1	2	2	2	1	2	2	3	3			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr15:75013055A>T	ENST00000379727.3	-	7	1512	c.1314T>A	c.(1312-1314)gcT>gcA	p.A438A	CYP1A1_ENST00000395048.2_Silent_p.A438A|CYP1A1_ENST00000567032.1_Silent_p.A438A|CYP1A1_ENST00000395049.4_Silent_p.A409A			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	438					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	CCTTGTCGATAGCACCATCAG	0.527									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				6	283					0	0	1	0	0	T	75013055	A	T	75013055	2	4	227	1	0	0	0	0	0	0	0	1	4172	407	15	5		5	CYP1A1	15	75013055	Silent	SNP	A	TCGA-J4-A67R-01A-21D-A30E-08		75013055	27518337	25	10581											
MT4	84560	broad.mit.edu	37	chr16	56602769	56602769	+	Frame_Shift_Del	DEL	C	C	-																															tcaggctgctgtccctgctgCcccccgggctgtgccaaatg																										TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr16:56602769delC	ENST00000219162.3	+	3	194	c.114delC	c.(112-114)tgfs	p.C38fs		NM_032935.2	NP_116324.1	P47944	MT4_HUMAN	metallothionein 4	38						cytoplasm	copper ion binding|zinc ion binding			ovary(1)|upper_aerodigestive_tract(1)	2						GTCCCTGCTGCCCCCCGGGCT	0.597													8	485	---	---	---	---						-	56602769	C	-	56602769	7	5	227	1	0	1	0	1	0	0	0	0	9955	747	26	0	124	0	MT4	16	56602769	Frame_Shift_Del	DEL	C	TCGA-J4-A67R-01A-21D-A30E-08		56602769	33751984	26	10582											
TNK1	8711	broad.mit.edu	37	chr17	7286330	7286330	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tttactggcccatccttgagGagcttaatgtcactcggcca	8	12	9	12	1	1	1	1	1	0	0	3	2	2	2	3	3	2	1	3	3	2	4			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr17:7286330G>A	ENST00000570896.1	+	3	531	c.85G>A	c.(85-87)Gag>Aag	p.E29K	TNK1_ENST00000576812.1_Missense_Mutation_p.E29K|TNK1_ENST00000311668.2_Missense_Mutation_p.E29K			Q13470	TNK1_HUMAN	tyrosine kinase, non-receptor, 1	29					protein autophosphorylation	membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(2)|pancreas(1)	16		Prostate(122;0.157)				CATCCTTGAGGAGCTTAATGT	0.597													6	100					0	0	1	0	0	A	7286330	G	A	7286330	3	1	227	1	0	0	0	0	1	0	0	0	16377	1175	41	2	87	2	TNK1	17	7286330	Missense_Mutation	SNP	G	TCGA-J4-A67R-01A-21D-A30E-08		7286330	73908880	27	10583											
NOS2	4843	broad.mit.edu	37	chr17	26094758	26094758	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaggtccaaaggctgtgagtCctgcacgagcctgtagtggt	8	9	15	9	1	0	1	0	1	0	0	2	3	2	1	3	3	2	3	3	3	2	1			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr17:26094758C>T	ENST00000313735.6	-	18	2373	c.2140G>A	c.(2140-2142)Gac>Aac	p.D714N		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	714					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	GGCTGTGAGTCCTGCACGAGC	0.557													8	65					0	0	1	0	0	T	26094758	C	T	26094758	3	4	227	1	0	0	0	0	1	0	0	0	10590	855	30	2	1361	2	NOS2	17	26094758	Missense_Mutation	SNP	C	TCGA-J4-A67R-01A-21D-A30E-08	18808428	26094758	55100452	28	10584											
ANKRD24	170961	broad.mit.edu	37	chr19	4217746	4217746	+	Frame_Shift_Del	DEL	G	G	-																															ctggccacggccagggccacGggggagcagcagcgcacggc																										TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr19:4217746delG	ENST00000600132.1	+	18	2865	c.2589delG	c.(2587-2589)acfs	p.T863fs	ANKRD24_ENST00000262970.5_Frame_Shift_Del_p.T953fs|ANKRD24_ENST00000318934.4_Frame_Shift_Del_p.T863fs	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	863										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		CCAGGGCCACGGGGGAGCAGC	0.791													2	4	---	---	---	---						-	4217746	G	-	4217746	7	5	227	1	0	1	0	1	0	0	0	0	649	1103	39	0	2655	0	ANKRD24	19	4217746	Frame_Shift_Del	DEL	G	TCGA-J4-A67R-01A-21D-A30E-08		4217746	54911237	29	10585											
MUC16	94025	broad.mit.edu	37	chr19	9073638	9073638	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggagggtgctgttctcttttCgtccagcagtcagggaggat	6	12	15	8	1	2	0	1	0	1	0	5	3	3	3	1	4	2	3	1	4	0	3			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr19:9073638C>T	ENST00000397910.4	-	3	14011	c.13808G>A	c.(13807-13809)cGa>cAa	p.R4603Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4605	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.R4603Q(3)|p.R236Q(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTTCTCTTTTCGTCCAGCAGT	0.502													5	71					0	0	1	0	0	T	9073638	C	T	9073638	3	4	227	1	0	0	0	0	1	0	0	0	10021	884	31	1	30043	1	MUC16	19	9073638	Missense_Mutation	SNP	C	TCGA-J4-A67R-01A-21D-A30E-08	4855892	9073638	50055345	30	10586											
SAMD1	90378	broad.mit.edu	37	chr19	14199510	14199510	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaaagctgtcgcctgctcCgggaatccagcctcagtaaa	10	8	11	12	2	1	0	1	0	0	0	4	2	3	2	4	2	3	3	4	2	4	1			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr19:14199510C>T	ENST00000533683.2	-	4	1400	c.1113G>A	c.(1111-1113)ccG>ccA	p.P371P		NM_138352.1	NP_612361.1	Q6SPF0	SAMD1_HUMAN	sterile alpha motif domain containing 1	477						cytoplasm|extracellular region				endometrium(3)	3		Renal(1328;0.00183)|Hepatocellular(1079;0.00826)		GBM - Glioblastoma multiforme(1328;0.000411)|STAD - Stomach adenocarcinoma(1328;0.00644)|Lung(535;0.199)		TCGCCTGCTCCGGGAATCCAG	0.567													4	89					0	0	1	0	0	T	14199510	C	T	14199510	2	4	227	1	0	0	0	0	0	0	0	1	13866	639	23	1		1	SAMD1	19	14199510	Silent	SNP	C	TCGA-J4-A67R-01A-21D-A30E-08	5125872	14199510	44929473	31	10587											
RYR1	6261	broad.mit.edu	37	chr19	38958369	38958369	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtcaccacaggcgagatgCgcgtgggctgggcgaggccc	7	4	17	13	4	1	1	1	0	0	1	1	3	1	1	2	4	1	1	2	4	0	0			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr19:38958369C>T	ENST00000355481.4	+	25	3429	c.3298C>T	c.(3298-3300)Cgc>Tgc	p.R1100C	RYR1_ENST00000360985.3_Missense_Mutation_p.R1100C|RYR1_ENST00000359596.3_Missense_Mutation_p.R1100C	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1100	6 X approximate repeats.|B30.2/SPRY 2.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGGCGAGATGCGCGTGGGCTG	0.622													5	191					0	0	1	0	0	T	38958369	C	T	38958369	3	4	227	1	0	0	0	0	1	0	0	0	13820	768	27	1	3396	1	RYR1	19	38958369	Missense_Mutation	SNP	C	TCGA-J4-A67R-01A-21D-A30E-08	24758859	38958369	20170614	32	10588											
ZNF417	147687	broad.mit.edu	37	chr19	58423500	58423500	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctctgagcctcactaagaaGacaccactcctcctgggaaa	12	7	7	15	0	2	3	1	1	1	2	4	4	4	4	5	1	1	0	5	1	3	1			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr19:58423500G>C	ENST00000312026.5	-	2	255	c.91C>G	c.(91-93)Ctt>Gtt	p.L31V	ZNF417_ENST00000536263.1_5'UTR|CTD-2583A14.9_ENST00000602124.1_5'UTR|ZNF417_ENST00000595559.1_Missense_Mutation_p.L30V	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	31	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		TCACTAAGAAGACACCACTCC	0.507													9	212					0	0	1	0	0	C	58423500	G	C	58423500	3	2	227	1	0	0	0	0	1	0	0	0	17951	942	33	4	1644	4	ZNF417	19	58423500	Missense_Mutation	SNP	G	TCGA-J4-A67R-01A-21D-A30E-08	19465131	58423500	705483	33	10589											
TUBGCP6	85378	broad.mit.edu	37	chr22	50682700	50682700	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcttgtttctcgctggtagTtttgacatgtcaggctgcag	6	16	11	8	1	3	1	1	1	2	0	4	1	3	1	0	2	1	6	0	2	1	5			TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chr22:50682700T>C	ENST00000439308.2	-	1	681	c.189A>G	c.(187-189)aaA>aaG	p.K63K	TUBGCP6_ENST00000248846.5_Silent_p.K63K	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	63					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TCGCTGGTAGTTTTGACATGT	0.522													14	165					0	0	1	0	0	C	50682700	T	C	50682700	2	2	227	1	0	0	0	0	0	0	0	1	16832	1722	60	3		3	TUBGCP6	22	50682700	Silent	SNP	T	TCGA-J4-A67R-01A-21D-A30E-08		50682700	621866	34	10590											
FAM47C	442444	broad.mit.edu	37	chrX	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctccgcccggagcctcccAatactggagtgtcccatctc	6	9	9	17	2	2	0	0	0	2	0	6	2	4	2	5	2	2	0	5	2	2	1	rs145580328	byFrequency	TCGA-J4-A67R-01A-21D-A30E-08	TCGA-J4-A67R-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df8a2b1-72de-4a9c-a20d-f659cefe1ed4	ecef180f-ebad-4421-8489-69ff5a12d716	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642													5	140					0	0	1	0	0	G	37028425	A	G	37028425	3	3	227	1	0	0	0	0	1	0	0	0	5607	130	5	3	1944	3	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-J4-A67R-01A-21D-A30E-08		37028425	118242135	35	10591											
ERMAP	114625	broad.mit.edu	37	chr1	43296726	43296726	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaggaccaagggtcttacCgatgtctgatccaagttgga	10	11	12	8	1	2	2	0	2	2	0	3	5	3	4	3	3	1	1	3	3	3	3			TCGA-J4-A67S-01A-11D-A30E-08	TCGA-J4-A67S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f76caec-6872-4f66-a84d-5c31c5cc24c5	b384da3b-69cc-4f3a-a804-090440fa25f6	g.chr1:43296726C>T	ENST00000328249.3	+	1	1141	c.103C>T	c.(103-105)Cga>Tga	p.R35*	ERMAP_ENST00000487556.1_Intron|ERMAP_ENST00000372514.3_Nonsense_Mutation_p.R125*|ERMAP_ENST00000372517.2_Nonsense_Mutation_p.R125*			Q96PL5	ERMAP_HUMAN	erythroblast membrane-associated protein (Scianna blood group)	125	Ig-like V-type.		G -> S (in Sc7 antigen).			integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGGGTCTTACCGATGTCTGAT	0.527													9	48					0	0	1	0	0	T	43296726	C	T	43296726	4	4	228	1	0	0	0	0	0	1	0	0	5262	644	23	1	379	1	ERMAP	1	43296726	Nonsense_Mutation	SNP	C	TCGA-J4-A67S-01A-11D-A30E-08		43296726	205953895	1	10592											
RGS16	6004	broad.mit.edu	37	chr1	182571581	182571581	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tgctcagcagcaggtcgaacGactctctccaccccagcaca	10	6	8	17	2	2	0	1	0	1	0	5	2	3	0	3	1	5	4	3	1	1	0			TCGA-J4-A67S-01A-11D-A30E-08	TCGA-J4-A67S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f76caec-6872-4f66-a84d-5c31c5cc24c5	b384da3b-69cc-4f3a-a804-090440fa25f6	g.chr1:182571581G>C	ENST00000367558.5	-	3	342	c.194C>G	c.(193-195)tCg>tGg	p.S65W		NM_002928.3	NP_002919.3	O15492	RGS16_HUMAN	regulator of G-protein signaling 16	65	RGS.				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			NS(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)	11						CAGGTCGAACGACTCTCTCCA	0.438													11	54					0	0	1	0	0	C	182571581	G	C	182571581	3	2	228	1	0	0	0	0	1	0	0	0	13348	1059	37	4	426	4	RGS16	1	182571581	Missense_Mutation	SNP	G	TCGA-J4-A67S-01A-11D-A30E-08	139274855	182571581	66679040	2	10593											
ARHGAP25	9938	broad.mit.edu	37	chr2	69002491	69002491	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagaactggcagcagaggtActttgtgctgagggcgcagc	10	7	16	8	1	0	3	0	1	0	2	0	4	0	3	0	3	5	5	0	3	3	2			TCGA-J4-A67S-01A-11D-A30E-08	TCGA-J4-A67S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f76caec-6872-4f66-a84d-5c31c5cc24c5	b384da3b-69cc-4f3a-a804-090440fa25f6	g.chr2:69002491A>G	ENST00000295381.3	+	2	619	c.200A>G	c.(199-201)tAc>tGc	p.Y67C	ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.Y67C|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.Y60C|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.Y67C|ARHGAP25_ENST00000544262.1_Missense_Mutation_p.Y41C|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.Y60C|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.Y60C	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	67	PH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						CAGCAGAGGTACTTTGTGCTG	0.577													7	223					0	0	1	0	0	G	69002491	A	G	69002491	3	3	228	1	0	0	0	0	1	0	0	0	871	391	14	3	246	3	ARHGAP25	2	69002491	Missense_Mutation	SNP	A	TCGA-J4-A67S-01A-11D-A30E-08		69002491	174196882	3	10594											
WDR49	151790	broad.mit.edu	37	chr3	167217986	167217986	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatttggggacgctcttcctCtggttctttcctaaagtatt	7	17	8	9	1	3	0	0	0	3	0	5	1	5	1	2	3	0	3	2	3	4	7			TCGA-J4-A67S-01A-11D-A30E-08	TCGA-J4-A67S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f76caec-6872-4f66-a84d-5c31c5cc24c5	b384da3b-69cc-4f3a-a804-090440fa25f6	g.chr3:167217986C>A	ENST00000308378.3	-	14	2235	c.1930G>T	c.(1930-1932)Gag>Tag	p.E644*	WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Nonsense_Mutation_p.E609*|WDR49_ENST00000476376.1_Nonsense_Mutation_p.E469*	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	644										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						CGCTCTTCCTCTGGTTCTTTC	0.428													47	206					2.52991e-16	2.70438e-16	1	1	0	A	167217986	C	A	167217986	4	1	228	1	0	0	0	0	0	1	0	0	17362	922	32	4	171	4	WDR49	3	167217986	Nonsense_Mutation	SNP	C	TCGA-J4-A67S-01A-11D-A30E-08		167217986	30804444	4	10595											
SPINK9	643394	broad.mit.edu	37	chr5	147718067	147718067	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcagtcattataaaaagttAccaccaggacaacagagatt	17	9	7	8	0	1	1	1	0	0	1	1	3	1	2	2	1	3	2	2	1	6	4			TCGA-J4-A67S-01A-11D-A30E-08	TCGA-J4-A67S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f76caec-6872-4f66-a84d-5c31c5cc24c5	b384da3b-69cc-4f3a-a804-090440fa25f6	g.chr5:147718067A>C	ENST00000511717.2	+	4	447	c.177A>C	c.(175-177)ttA>ttC	p.L59F	SPINK9_ENST00000377906.1_Missense_Mutation_p.L38F|RP11-373N22.3_ENST00000501695.3_RNA			Q5DT21	ISK9_HUMAN	serine peptidase inhibitor, Kazal type 9	38	Kazal-like.					extracellular region	protein binding|serine-type endopeptidase inhibitor activity			ovary(1)|urinary_tract(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATAAAAAGTTACCACCAGGAC	0.308													14	33					0	0	1	0	0	C	147718067	A	C	147718067	3	2	228	1	0	0	0	0	1	0	0	0	15122	388	14	5	124	5	SPINK9	5	147718067	Missense_Mutation	SNP	A	TCGA-J4-A67S-01A-11D-A30E-08		147718067	33197193	5	10596											
CYP2W1	54905	broad.mit.edu	37	chr7	1026363	1026363	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgaggaccctcctggaggCgcggaggccccacgtgtgcc	5	6	15	15	3	1	1	0	1	1	0	2	4	2	4	5	5	1	0	5	5	0	0			TCGA-J4-A67S-01A-11D-A30E-08	TCGA-J4-A67S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f76caec-6872-4f66-a84d-5c31c5cc24c5	b384da3b-69cc-4f3a-a804-090440fa25f6	g.chr7:1026363C>T	ENST00000340150.6	+	5	603	c.581C>T	c.(580-582)gCg>gTg	p.A194V	CYP2W1_ENST00000308919.7_Missense_Mutation_p.A250V			Q8TAV3	CP2W1_HUMAN	cytochrome P450, family 2, subfamily W, polypeptide 1	250					xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		CTCCTGGAGGCGCGGAGGCCC	0.672													10	21					0	0	1	0	0	T	1026363	C	T	1026363	3	4	228	1	0	0	0	0	1	0	0	0	4199	768	27	1	767	1	CYP2W1	7	1026363	Missense_Mutation	SNP	C	TCGA-J4-A67S-01A-11D-A30E-08		1026363	158112300	6	10597											
RSPO2	340419	broad.mit.edu	37	chr8	109001362	109001362	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggcactctccatactggcGcatcccttctcttcgaagga	8	10	8	15	2	2	0	0	0	2	0	6	2	3	1	2	3	1	2	2	3	2	3			TCGA-J4-A67S-01A-11D-A30E-08	TCGA-J4-A67S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f76caec-6872-4f66-a84d-5c31c5cc24c5	b384da3b-69cc-4f3a-a804-090440fa25f6	g.chr8:109001362G>A	ENST00000276659.5	-	3	825	c.205C>T	c.(205-207)Cgc>Tgc	p.R69C	RSPO2_ENST00000378439.2_Intron|RSPO2_ENST00000517781.1_Intron|RSPO2_ENST00000517939.1_Missense_Mutation_p.R2C	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	69					Wnt receptor signaling pathway	extracellular region	heparin binding		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			CCATACTGGCGCATCCCTTCT	0.473													15	66					0	0	1	0	0	A	109001362	G	A	109001362	3	1	228	1	0	0	0	0	1	0	0	0	13762	1087	38	1	542	1	RSPO2	8	109001362	Missense_Mutation	SNP	G	TCGA-J4-A67S-01A-11D-A30E-08		109001362	37362660	7	10598											
CDH23	64072	broad.mit.edu	37	chr10	73544680	73544680	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atccgggtgctggacatcaaCgacaacgaccctgtgctgct	9	8	11	13	3	1	0	1	0	0	0	2	3	2	1	2	2	5	3	2	2	2	0			TCGA-J4-A67S-01A-11D-A30E-08	TCGA-J4-A67S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f76caec-6872-4f66-a84d-5c31c5cc24c5	b384da3b-69cc-4f3a-a804-090440fa25f6	g.chr10:73544680C>T	ENST00000224721.6	+	42	5555	c.5550C>T	c.(5548-5550)aaC>aaT	p.N1850N		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1845	Cadherin 17.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TGGACATCAACGACAACGACC	0.597													20	43					0	0	1	0	0	T	73544680	C	T	73544680	2	4	228	1	0	0	0	0	0	0	0	1	3130	535	19	1		1	CDH23	10	73544680	Silent	SNP	C	TCGA-J4-A67S-01A-11D-A30E-08		73544680	61990067	8	10599											
OR5B17	219965	broad.mit.edu	37	chr11	58126185	58126185	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttacacactgctgcgtagcGgtcataggccattgaggaca	10	9	12	10	2	1	1	1	1	0	0	1	2	1	2	1	3	4	3	1	3	3	4	rs142474037		TCGA-J4-A67S-01A-11D-A30E-08	TCGA-J4-A67S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f76caec-6872-4f66-a84d-5c31c5cc24c5	b384da3b-69cc-4f3a-a804-090440fa25f6	g.chr11:58126185G>A	ENST00000357377.3	-	1	357	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R120C(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GCTGCGTAGCGGTCATAGGCC	0.473													4	84					0	0	1	0	0	A	58126185	G	A	58126185	3	1	228	1	0	0	0	0	1	0	0	0	11196	1116	39	1	588	1	OR5B17	11	58126185	Missense_Mutation	SNP	G	TCGA-J4-A67S-01A-11D-A30E-08		58126185	76880331	9	10600											
NARS2	79731	broad.mit.edu	37	chr11	78277282	78277282	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggatattgtcgcagatactCcagaggatgcctctctttat	10	13	9	9	1	1	2	0	0	1	2	4	4	2	4	2	2	2	1	2	2	3	5			TCGA-J4-A67S-01A-11D-A30E-08	TCGA-J4-A67S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f76caec-6872-4f66-a84d-5c31c5cc24c5	b384da3b-69cc-4f3a-a804-090440fa25f6	g.chr11:78277282C>A	ENST00000281038.5	-	4	784	c.409G>T	c.(409-411)Gag>Tag	p.E137*	NARS2_ENST00000528850.1_5'UTR	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)	137					asparaginyl-tRNA aminoacylation	mitochondrial matrix	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	CGCAGATACTCCAGAGGATGC	0.373													5	82					0.000602214	0.000622288	1	1	0	A	78277282	C	A	78277282	4	1	228	1	0	0	0	0	0	1	0	0	10219	864	30	4	1068	4	NARS2	11	78277282	Nonsense_Mutation	SNP	C	TCGA-J4-A67S-01A-11D-A30E-08	20151097	78277282	56729234	10	10601											
NCAPD3	23310	broad.mit.edu	37	chr11	134079319	134079319	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgaatttgagaaaggtccCgggcagaaaaacaaatattc	16	9	9	7	2	0	2	0	1	0	2	3	4	1	2	1	2	1	1	1	2	6	4			TCGA-J4-A67S-01A-11D-A30E-08	TCGA-J4-A67S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f76caec-6872-4f66-a84d-5c31c5cc24c5	b384da3b-69cc-4f3a-a804-090440fa25f6	g.chr11:134079319C>T	ENST00000534548.2	-	5	684	c.620G>A	c.(619-621)cGg>cAg	p.R207Q		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	207					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		AGAAAGGTCCCGGGCAGAAAA	0.343													4	56					0	0	1	0	0	T	134079319	C	T	134079319	3	4	228	1	0	0	0	0	1	0	0	0	10253	652	23	1	4000	1	NCAPD3	11	134079319	Missense_Mutation	SNP	C	TCGA-J4-A67S-01A-11D-A30E-08	55802037	134079319	927197	11	10602											
VPS13C	54832	broad.mit.edu	37	chr15	62173140	62173140	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taaggccatttcctgaatgaGgaccataaaatacctaagaa	17	9	7	8	0	0	3	0	2	0	1	1	4	1	4	4	2	1	0	4	2	7	5			TCGA-J4-A67S-01A-11D-A30E-08	TCGA-J4-A67S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f76caec-6872-4f66-a84d-5c31c5cc24c5	b384da3b-69cc-4f3a-a804-090440fa25f6	g.chr15:62173140G>T	ENST00000261517.5	-	72	9863	c.9790C>A	c.(9790-9792)Ctc>Atc	p.L3264I	VPS13C_ENST00000395898.3_Missense_Mutation_p.L3221I|VPS13C_ENST00000249837.3_Missense_Mutation_p.L3221I|VPS13C_ENST00000558919.1_5'UTR|VPS13C_ENST00000395896.4_Missense_Mutation_p.L3264I	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	3264					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TCCTGAATGAGGACCATAAAA	0.338													3	54					1	1	1	1	0	T	62173140	G	T	62173140	3	4	228	1	0	0	0	0	1	0	0	0	17251	1000	35	4	1555	4	VPS13C	15	62173140	Missense_Mutation	SNP	G	TCGA-J4-A67S-01A-11D-A30E-08		62173140	40358252	12	10603											
ZNF774	342132	broad.mit.edu	37	chr15	90904247	90904247	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgccctcattaagcaccaacGaatccacaccggagaaagac	15	4	7	15	3	1	2	1	0	0	2	2	4	2	2	4	1	2	1	4	1	4	1			TCGA-J4-A67S-01A-11D-A30E-08	TCGA-J4-A67S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f76caec-6872-4f66-a84d-5c31c5cc24c5	b384da3b-69cc-4f3a-a804-090440fa25f6	g.chr15:90904247G>A	ENST00000354377.3	+	4	1370	c.1184G>A	c.(1183-1185)cGa>cAa	p.R395Q	ZNF774_ENST00000379090.5_Intron	NM_001004309.2	NP_001004309.2	Q6NX45	ZN774_HUMAN	zinc finger protein 774	395					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|stomach(1)	14	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			AAGCACCAACGAATCCACACC	0.498													27	79					0	0	1	0	0	A	90904247	G	A	90904247	3	1	228	1	0	0	0	0	1	0	0	0	18196	1058	37	1	1194	1	ZNF774	15	90904247	Missense_Mutation	SNP	G	TCGA-J4-A67S-01A-11D-A30E-08	28731107	90904247	11627145	13	10604											
SRCAP	10847	broad.mit.edu	37	chr16	30715429	30715429	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaatcctgtgtcccctgcCtcatccagttccccagcctc	6	10	6	19	0	1	0	1	0	0	0	6	0	5	0	8	0	3	2	8	0	1	1			TCGA-J4-A67S-01A-11D-A30E-08	TCGA-J4-A67S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f76caec-6872-4f66-a84d-5c31c5cc24c5	b384da3b-69cc-4f3a-a804-090440fa25f6	g.chr16:30715429C>T	ENST00000262518.4	+	4	484	c.99C>T	c.(97-99)gcC>gcT	p.A33A	SRCAP_ENST00000344771.4_Silent_p.A33A|SRCAP_ENST00000395059.2_Silent_p.A33A	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	33					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TGTCCCCTGCCTCATCCAGTT	0.552													31	108					0	0	1	0	0	T	30715429	C	T	30715429	2	4	228	1	0	0	0	0	0	0	0	1	15191	668	24	2		2	SRCAP	16	30715429	Silent	SNP	C	TCGA-J4-A67S-01A-11D-A30E-08		30715429	59639324	14	10605											
SLC38A8	146167	broad.mit.edu	37	chr16	84075582	84075582	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccggggacttaccagctccaCcaggaaggcagggaccactc	10	4	12	15	1	0	0	0	0	0	0	2	3	1	3	5	5	2	2	5	5	2	1			TCGA-J4-A67S-01A-11D-A30E-08	TCGA-J4-A67S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f76caec-6872-4f66-a84d-5c31c5cc24c5	b384da3b-69cc-4f3a-a804-090440fa25f6	g.chr16:84075582C>T	ENST00000299709.3	-	1	180	c.181G>A	c.(181-183)Gtg>Atg	p.V61M		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	61					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						ACCAGCTCCACCAGGAAGGCA	0.632													33	119					0	0	1	0	0	T	84075582	C	T	84075582	3	4	228	1	0	0	0	0	1	0	0	0	14665	507	18	2	1166	2	SLC38A8	16	84075582	Missense_Mutation	SNP	C	TCGA-J4-A67S-01A-11D-A30E-08	53360153	84075582	6279171	15	10606											
KRT27	342574	broad.mit.edu	37	chr17	38938515	38938515	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattgccagagaggaggccGtgctcattccctgtgaaggc	8	9	13	11	1	2	2	2	1	0	1	3	4	3	3	3	3	2	1	3	3	1	2			TCGA-J4-A67S-01A-11D-A30E-08	TCGA-J4-A67S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f76caec-6872-4f66-a84d-5c31c5cc24c5	b384da3b-69cc-4f3a-a804-090440fa25f6	g.chr17:38938515G>A	ENST00000301656.3	-	1	271	c.231C>T	c.(229-231)caC>caT	p.H77H		NM_181537.3	NP_853515.2	Q7Z3Y8	K1C27_HUMAN	keratin 27	77	Gly-rich.|Head.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				AGAGGAGGCCGTGCTCATTCC	0.597													31	93					0	0	1	0	0	A	38938515	G	A	38938515	2	1	228	1	0	0	0	0	0	0	0	1	8507	1136	40	1		1	KRT27	17	38938515	Silent	SNP	G	TCGA-J4-A67S-01A-11D-A30E-08		38938515	42256695	16	10607											
AXIN2	8313	broad.mit.edu	37	chr17	63526188	63526188	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctcaaacaccgctccacagGcaaactcatcgcttgctttt	10	10	5	16	2	2	0	2	0	0	0	4	0	3	0	3	1	3	4	3	1	2	3			TCGA-J4-A67S-01A-11D-A30E-08	TCGA-J4-A67S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f76caec-6872-4f66-a84d-5c31c5cc24c5	b384da3b-69cc-4f3a-a804-090440fa25f6	g.chr17:63526188G>A	ENST00000307078.5	-	11	2751	c.2438C>T	c.(2437-2439)gCc>gTc	p.A813V	AXIN2_ENST00000375702.5_Missense_Mutation_p.A748V	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN	axin 2	813	DIX.				cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						CGCTCCACAGGCAAACTCATC	0.453									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome				4	128					0	0	1	0	0	A	63526188	G	A	63526188	3	1	228	1	0	0	0	0	1	0	0	0	1235	1203	42	2	97	2	AXIN2	17	63526188	Missense_Mutation	SNP	G	TCGA-J4-A67S-01A-11D-A30E-08	24587673	63526188	17669022	17	10608											
EPB41L3	23136	broad.mit.edu	37	chr18	5423443	5423443	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcaaagtaaggtgctgggcGatctatcaacgcactggctc	10	10	11	10	2	3	0	2	0	1	0	4	1	3	0	0	3	2	4	0	3	4	3			TCGA-J4-A67S-01A-11D-A30E-08	TCGA-J4-A67S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f76caec-6872-4f66-a84d-5c31c5cc24c5	b384da3b-69cc-4f3a-a804-090440fa25f6	g.chr18:5423443G>A	ENST00000341928.2	-	11	1613	c.1273C>T	c.(1273-1275)Cgc>Tgc	p.R425C	EPB41L3_ENST00000544123.1_Missense_Mutation_p.R425C|EPB41L3_ENST00000540638.2_Missense_Mutation_p.R425C|EPB41L3_ENST00000400111.3_Missense_Mutation_p.R425C|EPB41L3_ENST00000342933.3_Missense_Mutation_p.R425C|EPB41L3_ENST00000542652.2_5'UTR	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	425	Hydrophilic.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GGTGCTGGGCGATCTATCAAC	0.493													12	49					0	0	1	0	0	A	5423443	G	A	5423443	3	1	228	1	0	0	0	0	1	0	0	0	5182	1058	37	1	2038	1	EPB41L3	18	5423443	Missense_Mutation	SNP	G	TCGA-J4-A67S-01A-11D-A30E-08		5423443	72653805	18	10609											
PDE4A	5141	broad.mit.edu	37	chr19	10561280	10561280	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catttttttttttctgcaggCggtccccgctgggcggcccc	2	14	11	14	3	1	0	0	0	1	0	2	0	2	0	4	4	1	2	4	4	0	5			TCGA-J4-A67S-01A-11D-A30E-08	TCGA-J4-A67S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f76caec-6872-4f66-a84d-5c31c5cc24c5	b384da3b-69cc-4f3a-a804-090440fa25f6	g.chr19:10561280C>T	ENST00000380702.2	+	6	556	c.554_splice	c.e6-1	p.R186_splice	PDE4A_ENST00000293683.5_Splice_Site_p.R182_splice|PDE4A_ENST00000440014.2_Splice_Site_p.R147_splice|PDE4A_ENST00000352831.6_Splice_Site_p.R208_splice|PDE4A_ENST00000592685.1_Splice_Site_p.R186_splice			P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	208					signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	TTTCTGCAGGCGGTCCCCGCT	0.627													6	15					0	0	1	0	0	T	10561280	C	T	10561280	5	4	228	1	0	0	0	0	0	0	1	0	11686	782	27	1	1027	1	PDE4A	19	10561280	Splice_Site	SNP	C	TCGA-J4-A67S-01A-11D-A30E-08		10561280	48567703	19	10610											
CYP2F1	1572	broad.mit.edu	37	chr19	41622408	41622408	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgcacctgggacccaggCgggtggtggtcctcagcggg	5	6	18	12	2	1	0	1	0	0	0	2	1	2	1	3	6	2	1	3	6	0	0			TCGA-J4-A67S-01A-11D-A30E-08	TCGA-J4-A67S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f76caec-6872-4f66-a84d-5c31c5cc24c5	b384da3b-69cc-4f3a-a804-090440fa25f6	g.chr19:41622408C>T	ENST00000331105.2	+	3	292	c.220C>T	c.(220-222)Cgg>Tgg	p.R74W		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	74					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						GGGACCCAGGCGGGTGGTGGT	0.602													23	178					0	0	1	0	0	T	41622408	C	T	41622408	3	4	228	1	0	0	0	0	1	0	0	0	4194	759	27	1	226	1	CYP2F1	19	41622408	Missense_Mutation	SNP	C	TCGA-J4-A67S-01A-11D-A30E-08	31061128	41622408	17506575	20	10611											
GRIK1	2897	broad.mit.edu	37	chr21	30963507	30963507	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacttgtctttgttgctgtcCgtcatgttaagcccactgtt	5	17	9	10	1	2	0	1	0	1	0	3	1	3	0	2	0	2	4	2	0	1	5	rs144528849		TCGA-J4-A67S-01A-11D-A30E-08	TCGA-J4-A67S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f76caec-6872-4f66-a84d-5c31c5cc24c5	b384da3b-69cc-4f3a-a804-090440fa25f6	g.chr21:30963507C>T	ENST00000399914.1	-	9	1766	c.1245G>A	c.(1243-1245)acG>acA	p.T415T	GRIK1_ENST00000309434.7_Silent_p.T432T|GRIK1_ENST00000399907.1_Silent_p.T430T|GRIK1_ENST00000535441.1_Silent_p.T432T|GRIK1_ENST00000327783.4_Silent_p.T430T|GRIK1_ENST00000399913.1_Silent_p.T430T|GRIK1_ENST00000389125.3_Silent_p.T415T|GRIK1_ENST00000399909.1_Silent_p.T415T|GRIK1_ENST00000389124.2_Silent_p.T430T			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	430					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	p.T430T(1)|p.T415T(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	TGTTGCTGTCCGTCATGTTAA	0.448													6	175					0	0	1	0	0	T	30963507	C	T	30963507	2	4	228	1	0	0	0	0	0	0	0	1	6814	639	23	1		1	GRIK1	21	30963507	Silent	SNP	C	TCGA-J4-A67S-01A-11D-A30E-08		30963507	17166388	21	10612											
TRIOBP	11078	broad.mit.edu	37	chr22	38165192	38165192	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagctgctgcgccacaacCaggtgggcctggccccaggt	7	5	15	14	1	0	0	0	0	0	0	0	1	0	1	5	5	4	2	5	5	1	0			TCGA-J4-A67S-01A-11D-A30E-08	TCGA-J4-A67S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f76caec-6872-4f66-a84d-5c31c5cc24c5	b384da3b-69cc-4f3a-a804-090440fa25f6	g.chr22:38165192C>T	ENST00000406386.3	+	20	6988	c.6733C>T	c.(6733-6735)Cag>Tag	p.Q2245*	RP1-37E16.12_ENST00000455236.1_RNA|TRIOBP_ENST00000403663.2_Nonsense_Mutation_p.Q532*	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	2245					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GCGCCACAACCAGGTGGGCCT	0.711													7	14					0	0	1	0	0	T	38165192	C	T	38165192	4	4	228	1	0	0	0	0	0	1	0	0	16614	595	21	2	7105	2	TRIOBP	22	38165192	Nonsense_Mutation	SNP	C	TCGA-J4-A67S-01A-11D-A30E-08		38165192	13139374	22	10613											
IRS4	8471	broad.mit.edu	37	chrX	107976000	107976000	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctggcaaggtttgcagatGggttgtgggctccagggttc	5	12	16	8	0	1	1	0	0	1	1	3	1	2	1	1	5	1	6	1	5	1	3			TCGA-J4-A67S-01A-11D-A30E-08	TCGA-J4-A67S-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f76caec-6872-4f66-a84d-5c31c5cc24c5	b384da3b-69cc-4f3a-a804-090440fa25f6	g.chrX:107976000G>A	ENST00000372129.2	-	1	3651	c.3575C>T	c.(3574-3576)cCa>cTa	p.P1192L		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	1192	Ala-rich.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GTTTGCAGATGGGTTGTGGGC	0.637													6	130					0	0	1	0	0	A	107976000	G	A	107976000	3	1	228	1	0	0	0	0	1	0	0	0	7886	1348	47	2	202	2	IRS4	23	107976000	Missense_Mutation	SNP	G	TCGA-J4-A67S-01A-11D-A30E-08		107976000	47294560	23	10614											
ENO1	2023	broad.mit.edu	37	chr1	8926458	8926458	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtaaacctctgctccaatgcGcatggcttccctgaagtttg	8	12	9	12	1	1	1	0	1	1	0	3	1	3	1	3	1	3	5	3	1	4	3			TCGA-J4-A67T-01A-11D-A30X-08	TCGA-J4-A67T-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb55b533-2220-4d8f-acd7-7ac806c1d861	cb7197cc-fc88-47ec-918b-d942f90df5cf	g.chr1:8926458G>A	ENST00000234590.4	-	7	666	c.547C>T	c.(547-549)Cgc>Tgc	p.R183C		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	183	Required for repression of c-myc promoter activity.				gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		GCTCCAATGCGCATGGCTTCC	0.512													4	122					0	0	1	0	0	A	8926458	G	A	8926458	3	1	229	1	0	0	0	0	1	0	0	0	5149	1087	38	1	781	1	ENO1	1	8926458	Missense_Mutation	SNP	G	TCGA-J4-A67T-01A-11D-A30X-08		8926458	240324163	1	10615											
KPRP	448834	broad.mit.edu	37	chr1	152733118	152733118	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagattcctcccatcagaCgccgctcccagagctgtggc	7	9	10	15	2	1	3	1	1	0	3	4	4	4	3	4	1	1	2	4	1	0	2			TCGA-J4-A67T-01A-11D-A30X-08	TCGA-J4-A67T-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb55b533-2220-4d8f-acd7-7ac806c1d861	cb7197cc-fc88-47ec-918b-d942f90df5cf	g.chr1:152733118C>T	ENST00000368773.1	+	2	1112	c.1054C>T	c.(1054-1056)Cgc>Tgc	p.R352C	KPRP_ENST00000606109.1_Missense_Mutation_p.R352C	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	352	Pro-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCCATCAGACGCCGCTCCCA	0.652													6	61					0	0	1	0	0	T	152733118	C	T	152733118	3	4	229	1	0	0	0	0	1	0	0	0	8479	536	19	1	1056	1	KPRP	1	152733118	Missense_Mutation	SNP	C	TCGA-J4-A67T-01A-11D-A30X-08	143806660	152733118	96517503	2	10616											
F5	2153	broad.mit.edu	37	chr1	169511343	169511343	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaactttgggtggccactCtgctttccaggcttgttggc	5	13	13	10	0	1	0	0	0	1	0	2	1	2	1	2	5	2	3	2	5	1	4			TCGA-J4-A67T-01A-11D-A30X-08	TCGA-J4-A67T-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb55b533-2220-4d8f-acd7-7ac806c1d861	cb7197cc-fc88-47ec-918b-d942f90df5cf	g.chr1:169511343C>A	ENST00000367796.3	-	13	3201	c.3000G>T	c.(2998-3000)caG>caT	p.Q1000H	F5_ENST00000367797.3_Missense_Mutation_p.Q995H			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	995	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GGTGGCCACTCTGCTTTCCAG	0.468													34	130					2.87052e-16	2.98534e-16	1	1	0	A	169511343	C	A	169511343	3	1	229	1	0	0	0	0	1	0	0	0	5376	912	32	4	3741	4	F5	1	169511343	Missense_Mutation	SNP	C	TCGA-J4-A67T-01A-11D-A30X-08	16778225	169511343	79739278	3	10617											
LCT	3938	broad.mit.edu	37	chr2	136558282	136558282	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcacgccaccttgactggcGcggtacacatcgttgtacag	9	9	10	13	4	1	1	1	1	0	0	2	1	1	1	2	2	2	3	2	2	2	4			TCGA-J4-A67T-01A-11D-A30X-08	TCGA-J4-A67T-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb55b533-2220-4d8f-acd7-7ac806c1d861	cb7197cc-fc88-47ec-918b-d942f90df5cf	g.chr2:136558282G>A	ENST00000264162.2	-	12	4771	c.4761C>T	c.(4759-4761)cgC>cgT	p.R1587R		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1587	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CTTGACTGGCGCGGTACACAT	0.547													11	55					0	0	1	0	0	A	136558282	G	A	136558282	2	1	229	1	0	0	0	0	0	0	0	1	8732	1074	38	1		1	LCT	2	136558282	Silent	SNP	G	TCGA-J4-A67T-01A-11D-A30X-08		136558282	106641091	4	10618											
PTH2R	5746	broad.mit.edu	37	chr2	209307106	209307106	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcaagaattctttgaacgCctctatgtaatgtataccgt	12	13	7	9	2	2	2	0	1	2	1	2	2	2	2	2	0	3	3	2	0	7	6			TCGA-J4-A67T-01A-11D-A30X-08	TCGA-J4-A67T-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb55b533-2220-4d8f-acd7-7ac806c1d861	cb7197cc-fc88-47ec-918b-d942f90df5cf	g.chr2:209307106C>T	ENST00000272847.2	+	5	642	c.429C>T	c.(427-429)cgC>cgT	p.R143R	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	143						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		TCTTTGAACGCCTCTATGTAA	0.398													18	116					0	0	1	0	0	T	209307106	C	T	209307106	2	4	229	1	0	0	0	0	0	0	0	1	12810	726	26	2		2	PTH2R	2	209307106	Silent	SNP	C	TCGA-J4-A67T-01A-11D-A30X-08	72748824	209307106	33892267	5	10619											
ROBO1	6091	broad.mit.edu	37	chr3	78666863	78666863	+	Frame_Shift_Del	DEL	C	C	-																															tgcgactgcctgggcaaagtCagcatcagtgaaaaaggagc																										TCGA-J4-A67T-01A-11D-A30X-08	TCGA-J4-A67T-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb55b533-2220-4d8f-acd7-7ac806c1d861	cb7197cc-fc88-47ec-918b-d942f90df5cf	g.chr3:78666863delC	ENST00000436010.2	-	25	5084	c.4087delG	c.(4087-4089)acfs	p.D1363fs	ROBO1_ENST00000467549.1_Frame_Shift_Del_p.D1302fs|ROBO1_ENST00000464233.1_Frame_Shift_Del_p.D1402fs|ROBO1_ENST00000495273.1_Frame_Shift_Del_p.D1357fs			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1402					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TGGGCAAAGTCAGCATCAGTG	0.552													9	41	---	---	---	---						-	78666863	C	-	78666863	7	5	229	1	0	1	0	1	0	0	0	0	13565	826	29	0	771	0	ROBO1	3	78666863	Frame_Shift_Del	DEL	C	TCGA-J4-A67T-01A-11D-A30X-08		78666863	119355567	6	10620											
DPPA4	55211	broad.mit.edu	37	chr3	109050826	109050826	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatggagggattggtatcttCttctgaggtctggggttgtc	6	15	15	5	0	4	1	0	1	4	0	5	3	4	3	0	6	0	2	0	6	2	5			TCGA-J4-A67T-01A-11D-A30X-08	TCGA-J4-A67T-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb55b533-2220-4d8f-acd7-7ac806c1d861	cb7197cc-fc88-47ec-918b-d942f90df5cf	g.chr3:109050826C>T	ENST00000335658.6	-	3	285	c.231G>A	c.(229-231)aaG>aaA	p.K77K	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	77						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						TTGGTATCTTCTTCTGAGGTC	0.463													7	134					0	0	1	0	0	T	109050826	C	T	109050826	2	4	229	1	0	0	0	0	0	0	0	1	4762	912	32	2		2	DPPA4	3	109050826	Silent	SNP	C	TCGA-J4-A67T-01A-11D-A30X-08	30383963	109050826	88971604	7	10621											
COL25A1	84570	broad.mit.edu	37	chr4	109767343	109767343	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttttcacctgtcatacctggGtcccccatgtctccctttga	5	15	6	15	0	3	1	2	1	1	0	5	1	4	1	5	1	1	0	5	1	1	4			TCGA-J4-A67T-01A-11D-A30X-08	TCGA-J4-A67T-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb55b533-2220-4d8f-acd7-7ac806c1d861	cb7197cc-fc88-47ec-918b-d942f90df5cf	g.chr4:109767343G>A	ENST00000399132.1	-	28	1997	c.1467C>T	c.(1465-1467)gaC>gaT	p.D489D	COL25A1_ENST00000399127.1_Silent_p.D462D|COL25A1_ENST00000399126.1_Silent_p.D489D	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	489	Collagen-like 6.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		TCATACCTGGGTCCCCCATGT	0.388													23	69					0	0	1	0	0	A	109767343	G	A	109767343	2	1	229	1	0	0	0	0	0	0	0	1	3707	1252	44	2		2	COL25A1	4	109767343	Silent	SNP	G	TCGA-J4-A67T-01A-11D-A30X-08		109767343	81386933	8	10622											
ZFR	51663	broad.mit.edu	37	chr5	32403259	32403259	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttcttggcagccatatttgTaggcactgctgatactttag	8	16	9	8	0	1	1	0	1	1	0	1	1	1	1	1	2	3	4	1	2	4	8			TCGA-J4-A67T-01A-11D-A30X-08	TCGA-J4-A67T-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb55b533-2220-4d8f-acd7-7ac806c1d861	cb7197cc-fc88-47ec-918b-d942f90df5cf	g.chr5:32403259T>A	ENST00000265069.8	-	8	1570	c.1468A>T	c.(1468-1470)Aca>Tca	p.T490S		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	490					multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		GCCATATTTGTAGGCACTGCT	0.403													15	83					0	0	1	0	0	A	32403259	T	A	32403259	3	1	229	1	0	0	0	0	1	0	0	0	17717	1638	57	5	1808	5	ZFR	5	32403259	Missense_Mutation	SNP	T	TCGA-J4-A67T-01A-11D-A30X-08		32403259	148512001	9	10623											
PCDHB2	0	broad.mit.edu	37	chr5	140474539	140474539	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aatttgttaaaagacctgggGctggagataggagaacttgc	13	10	13	5	0	0	3	0	0	0	3	0	5	0	3	1	4	2	2	1	4	5	4			TCGA-J4-A67T-01A-11D-A30X-08	TCGA-J4-A67T-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb55b533-2220-4d8f-acd7-7ac806c1d861	cb7197cc-fc88-47ec-918b-d942f90df5cf	g.chr5:140474539G>T	ENST00000194155.4	+	1	313	c.165G>T	c.(163-165)ggG>ggT	p.G55G		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		55	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAGACCTGGGGCTGGAGATAG	0.512													4	57					0.00024832	0.00024832	1	1	0	T	140474539	G	T	140474539	2	4	229	1	0	0	0	0	0	0	0	1	11589	1190	42	4		4	PCDHB2	5	140474539	Silent	SNP	G	TCGA-J4-A67T-01A-11D-A30X-08	108071280	140474539	40440721	10	10624											
FAM135B	51059	broad.mit.edu	37	chr8	139278013	139278013	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatgggtacctcttcattcCggtataagatctgaaagacc	11	13	8	9	1	3	3	1	1	2	2	4	3	4	3	3	2	1	2	3	2	5	6			TCGA-J4-A67T-01A-11D-A30X-08	TCGA-J4-A67T-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb55b533-2220-4d8f-acd7-7ac806c1d861	cb7197cc-fc88-47ec-918b-d942f90df5cf	g.chr8:139278013C>T	ENST00000395297.1	-	4	400	c.230G>A	c.(229-231)cGg>cAg	p.R77Q		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	77										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CTCTTCATTCCGGTATAAGAT	0.488										HNSCC(54;0.14)			4	51					0	0	1	0	0	T	139278013	C	T	139278013	3	4	229	1	0	0	0	0	1	0	0	0	5480	652	23	1	4058	1	FAM135B	8	139278013	Missense_Mutation	SNP	C	TCGA-J4-A67T-01A-11D-A30X-08		139278013	7086009	11	10625											
PPRC1	23082	broad.mit.edu	37	chr10	103906642	103906642	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggctctggggaccatgactAttgtgtccggagcaggaccc	7	8	15	11	1	1	1	0	1	1	0	2	4	2	4	3	5	1	2	3	5	1	2			TCGA-J4-A67T-01A-11D-A30X-08	TCGA-J4-A67T-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb55b533-2220-4d8f-acd7-7ac806c1d861	cb7197cc-fc88-47ec-918b-d942f90df5cf	g.chr10:103906642A>G	ENST00000278070.2	+	9	3932	c.3893A>G	c.(3892-3894)tAt>tGt	p.Y1298C	PPRC1_ENST00000413464.2_Intron|PPRC1_ENST00000489648.1_Intron|PPRC1_ENST00000370012.1_Missense_Mutation_p.Y265C	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1298					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GACCATGACTATTGTGTCCGG	0.577													9	31					0	0	1	0	0	G	103906642	A	G	103906642	3	3	229	1	0	0	0	0	1	0	0	0	12459	449	16	3	3927	3	PPRC1	10	103906642	Missense_Mutation	SNP	A	TCGA-J4-A67T-01A-11D-A30X-08		103906642	31628105	12	10626											
C10orf91	170393	broad.mit.edu	37	chr10	134261457	134261457	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctggctgaggcagctccCgtggtagatcaagcctcaca	9	7	12	13	1	2	2	2	1	0	1	3	3	3	2	3	3	2	4	3	3	2	1			TCGA-J4-A67T-01A-11D-A30X-08	TCGA-J4-A67T-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb55b533-2220-4d8f-acd7-7ac806c1d861	cb7197cc-fc88-47ec-918b-d942f90df5cf	g.chr10:134261457C>G	ENST00000392630.3	+	3	391	c.330C>G	c.(328-330)ccC>ccG	p.P110P	C10orf91_ENST00000321248.2_Silent_p.P110P	NM_173541.2	NP_775812.1	Q5T1B1	CJ091_HUMAN	chromosome 10 open reading frame 91	110										endometrium(1)|kidney(1)|lung(1)|ovary(2)	5		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;6.95e-05)|Epithelial(32;0.000142)|all cancers(32;0.000162)		AGGCAGCTCCCGTGGTAGATC	0.677													8	131					0	0	1	0	0	G	134261457	C	G	134261457	2	3	229	1	0	0	0	0	0	0	0	1	1628	639	23	4		4	C10orf91	10	134261457	Silent	SNP	C	TCGA-J4-A67T-01A-11D-A30X-08	30354815	134261457	1273290	13	10627											
GAB2	9846	broad.mit.edu	37	chr11	77991848	77991848	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagttcaggttgatgatccGcagaggcttcttggagtgat	9	12	14	6	1	2	4	1	3	1	1	3	6	3	5	1	3	0	4	1	3	1	4			TCGA-J4-A67T-01A-11D-A30X-08	TCGA-J4-A67T-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb55b533-2220-4d8f-acd7-7ac806c1d861	cb7197cc-fc88-47ec-918b-d942f90df5cf	g.chr11:77991848G>A	ENST00000361507.4	-	2	260	c.175C>T	c.(175-177)Cgg>Tgg	p.R59W	GAB2_ENST00000340149.2_Missense_Mutation_p.R21W|GAB2_ENST00000526030.1_5'UTR	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	59	PH.				osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			TTGATGATCCGCAGAGGCTTC	0.502													4	111					0	0	1	0	0	A	77991848	G	A	77991848	3	1	229	1	0	0	0	0	1	0	0	0	6184	1086	38	1	1891	1	GAB2	11	77991848	Missense_Mutation	SNP	G	TCGA-J4-A67T-01A-11D-A30X-08		77991848	57014668	14	10628											
MFRP	83552	broad.mit.edu	37	chr11	119216272	119216273	+	Frame_Shift_Ins	INS	-	-	G																															tgccacacgcagtgggtgttINSgggggggtaagggtctgggt																										TCGA-J4-A67T-01A-11D-A30X-08	TCGA-J4-A67T-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb55b533-2220-4d8f-acd7-7ac806c1d861	cb7197cc-fc88-47ec-918b-d942f90df5cf	g.chr11:119216272_119216273insG	ENST00000555262.1	-	5	657_658	c.498_499insC	c.(496-501)ccacacfs	p.H167fs	MFRP_ENST00000530681.1_Frame_Shift_Ins_p.H167fs|MFRP_ENST00000449574.2_Frame_Shift_Ins_p.H167fs|MFRP_ENST00000529147.1_5'UTR|MFRP_ENST00000360167.4_Frame_Shift_Ins_p.H167fs|C1QTNF5_ENST00000445041.2_5'UTR	NM_001278431.1	NP_001265360.1			membrane frizzled-related protein											autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		CAGTGGGTGTTGGGGGGGTAAG	0.564													7	45	---	---	---	---						G	119216273	-	G	119216272	7	5	229	1	0	1	1	0	0	0	0	0	9576	1812	63	0	1276	0	MFRP	11	119216272	Frame_Shift_Ins	INS	-	TCGA-J4-A67T-01A-11D-A30X-08	41224424	119216272	15790244	15	10629											
ADAMTS20	80070	broad.mit.edu	37	chr12	43944936	43944936	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgaagcgatagtgggttcGgaacggcatgggttccagcg	9	8	17	7	4	0	1	0	1	0	0	2	3	1	2	1	4	3	3	1	4	3	3			TCGA-J4-A67T-01A-11D-A30X-08	TCGA-J4-A67T-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb55b533-2220-4d8f-acd7-7ac806c1d861	cb7197cc-fc88-47ec-918b-d942f90df5cf	g.chr12:43944936G>A	ENST00000389420.3	-	2	228	c.229C>T	c.(229-231)Cga>Tga	p.R77*	ADAMTS20_ENST00000553158.1_Nonsense_Mutation_p.R77*	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	77						proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TAGTGGGTTCGGAACGGCATG	0.617													24	72					0	0	1	0	0	A	43944936	G	A	43944936	4	1	229	1	0	0	0	0	0	1	0	0	265	1124	39	1	5654	1	ADAMTS20	12	43944936	Nonsense_Mutation	SNP	G	TCGA-J4-A67T-01A-11D-A30X-08		43944936	89906959	16	10630											
MTUS2	23281	broad.mit.edu	37	chr13	29599579	29599579	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcatcctaaaccatctacCtcagaaagcaagcagagcac	15	6	6	14	1	3	2	2	0	1	2	4	2	4	2	3	0	5	3	3	0	5	2			TCGA-J4-A67T-01A-11D-A30X-08	TCGA-J4-A67T-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb55b533-2220-4d8f-acd7-7ac806c1d861	cb7197cc-fc88-47ec-918b-d942f90df5cf	g.chr13:29599579C>T	ENST00000431530.3	+	1	832	c.774C>T	c.(772-774)acC>acT	p.T258T		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	248						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AACCATCTACCTCAGAAAGCA	0.557													5	23					0	0	1	0	0	T	29599579	C	T	29599579	2	4	229	1	0	0	0	0	0	0	0	1	10014	668	24	2		2	MTUS2	13	29599579	Silent	SNP	C	TCGA-J4-A67T-01A-11D-A30X-08		29599579	85570299	17	10631											
ZC3H13	23091	broad.mit.edu	37	chr13	46543691	46543691	+	Frame_Shift_Del	DEL	T	T	-																															atgcttttctttttctgtccTttttttggtgaaaatacttg																										TCGA-J4-A67T-01A-11D-A30X-08	TCGA-J4-A67T-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb55b533-2220-4d8f-acd7-7ac806c1d861	cb7197cc-fc88-47ec-918b-d942f90df5cf	g.chr13:46543691delT	ENST00000242848.4	-	14	3336	c.2988delA	c.(2986-2988)aafs	p.K996fs	ZC3H13_ENST00000282007.3_Frame_Shift_Del_p.K996fs|ZC3H13_ENST00000378921.2_5'UTR			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	996	Lys-rich.						nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TTTTCTGTCCTTTTTTTGGTG	0.333													16	60	---	---	---	---						-	46543691	T	-	46543691	7	5	229	1	0	1	0	1	0	0	0	0	17624	1606	56	0	1722	0	ZC3H13	13	46543691	Frame_Shift_Del	DEL	T	TCGA-J4-A67T-01A-11D-A30X-08	16944112	46543691	68626187	18	10632											
LTBP2	4053	broad.mit.edu	37	chr14	74991895	74991895	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttcctgtatctctgcaatcCcctgttcaggcattggtggg	5	14	10	12	0	2	0	1	0	1	0	5	0	4	0	3	3	1	4	3	3	2	4			TCGA-J4-A67T-01A-11D-A30X-08	TCGA-J4-A67T-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb55b533-2220-4d8f-acd7-7ac806c1d861	cb7197cc-fc88-47ec-918b-d942f90df5cf	g.chr14:74991895C>T	ENST00000261978.4	-	15	2848	c.2462G>A	c.(2461-2463)gGg>gAg	p.G821E	LTBP2_ENST00000556690.1_Missense_Mutation_p.G821E	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	821					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CTCTGCAATCCCCTGTTCAGG	0.612													11	75					0	0	1	0	0	T	74991895	C	T	74991895	3	4	229	1	0	0	0	0	1	0	0	0	9119	623	22	2	3091	2	LTBP2	14	74991895	Missense_Mutation	SNP	C	TCGA-J4-A67T-01A-11D-A30X-08		74991895	32357645	19	10633											
TUBB3	10381	broad.mit.edu	37	chr16	90001622	90001622	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacctgcgcaagctggccGtcaacatggtgcccttcccg	6	8	11	16	3	1	1	1	1	0	0	2	1	2	1	4	2	4	2	4	2	2	1			TCGA-J4-A67T-01A-11D-A30X-08	TCGA-J4-A67T-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb55b533-2220-4d8f-acd7-7ac806c1d861	cb7197cc-fc88-47ec-918b-d942f90df5cf	g.chr16:90001622G>A	ENST00000304984.5	+	3	2842	c.547G>A	c.(547-549)Gtc>Atc	p.V183I	TUBB3_ENST00000555576.1_Intron|TUBB3_ENST00000315491.7_Missense_Mutation_p.V255I|TUBB3_ENST00000556922.1_Missense_Mutation_p.V602I|TUBB3_ENST00000554444.1_Missense_Mutation_p.V183I			Q13509	TBB3_HUMAN	tubulin, beta 3 class III	255					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		CAAGCTGGCCGTCAACATGGT	0.682													4	69					0	0	1	0	0	A	90001622	G	A	90001622	3	1	229	1	0	0	0	0	1	0	0	0	16819	1145	40	1	777	1	TUBB3	16	90001622	Missense_Mutation	SNP	G	TCGA-J4-A67T-01A-11D-A30X-08		90001622	353131	20	10634											
ZNF420	147923	broad.mit.edu	37	chr19	37580021	37580021	+	Translation_Start_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttgcagctctaaaaaccAtggctcgggtaaattggagt	11	12	10	8	1	2	0	0	0	2	0	3	1	2	1	1	3	3	4	1	3	5	5			TCGA-J4-A67T-01A-11D-A30X-08	TCGA-J4-A67T-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb55b533-2220-4d8f-acd7-7ac806c1d861	cb7197cc-fc88-47ec-918b-d942f90df5cf	g.chr19:37580021A>G	ENST00000337995.3	+	3	216	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	ZNF420_ENST00000304239.7_Start_Codon_SNP_p.M1V	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	1					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCTAAAAACCATGGCTCGGGT	0.423													3	59					0	0	1	0	0	G	37580021	A	G	37580021	1	3	229	1	0	0	0	0	0	0	0	0	17954	217	8	3		3	ZNF420	19	37580021	Translation_Start_Site	SNP	A	TCGA-J4-A67T-01A-11D-A30X-08		37580021	21548962	21	10635											
KCNC3	3748	broad.mit.edu	37	chr19	50823518	50823518	+	Frame_Shift_Del	DEL	G	G	-																															gtccactagggggatatccaGgccgcggcgttggcgttgag																										TCGA-J4-A67T-01A-11D-A30X-08	TCGA-J4-A67T-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb55b533-2220-4d8f-acd7-7ac806c1d861	cb7197cc-fc88-47ec-918b-d942f90df5cf	g.chr19:50823518delG	ENST00000477616.1	-	4	2553	c.2259delC	c.(2257-2259)gcfs	p.A753fs	KCNC3_ENST00000474951.1_Intron|KCNC3_ENST00000376959.2_Intron|KCNC3_ENST00000391818.2_Intron	NM_004977.2	NP_004968.2	Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	753					cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)		GGGATATCCAGGCCGCGGCGT	0.692													2	4	---	---	---	---						-	50823518	G	-	50823518	7	5	229	1	0	1	0	1	0	0	0	0	8060	987	35	0	18	0	KCNC3	19	50823518	Frame_Shift_Del	DEL	G	TCGA-J4-A67T-01A-11D-A30X-08	13243497	50823518	8305465	22	10636											
USP48	84196	broad.mit.edu	37	chr1	22074643	22074643	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acatttacctgtcaaagacaAaacgcattagctgcaagttc	15	10	6	10	1	1	1	1	0	0	1	2	1	1	1	1	0	4	4	1	0	6	4			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr1:22074643A>C	ENST00000308271.9	-	7	1544	c.896T>G	c.(895-897)tTt>tGt	p.F299C	USP48_ENST00000400301.1_Missense_Mutation_p.F299C|USP48_ENST00000421625.2_Missense_Mutation_p.F299C|USP48_ENST00000529637.1_Missense_Mutation_p.F299C	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	299					ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		GTCAAAGACAAAACGCATTAG	0.368													3	47					0	0	1	0	0	C	22074643	A	C	22074643	3	2	230	1	0	0	0	0	1	0	0	0	17139	14	1	5	2303	5	USP48	1	22074643	Missense_Mutation	SNP	A	TCGA-J4-A6G1-01A-11D-A30X-08		22074643	227175978	1	10637											
MATN1	4146	broad.mit.edu	37	chr1	31189120	31189120	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctcacactcttggatccGtcaatgaggaagaccaggtc	10	8	11	12	1	3	2	2	1	1	1	5	4	4	4	3	4	0	0	3	4	2	1			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr1:31189120G>A	ENST00000373765.4	-	5	878	c.843C>T	c.(841-843)gaC>gaT	p.D281D	MATN1_ENST00000477320.1_5'UTR	NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein	281	VWFA 2.				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		TCTTGGATCCGTCAATGAGGA	0.557													4	45					0	0	1	0	0	A	31189120	G	A	31189120	2	1	230	1	0	0	0	0	0	0	0	1	9383	1136	40	1		1	MATN1	1	31189120	Silent	SNP	G	TCGA-J4-A6G1-01A-11D-A30X-08	9114477	31189120	218061501	2	10638											
RSPO1	284654	broad.mit.edu	37	chr1	38082185	38082185	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgttcatgtcggggttgcggGcgtcgaagtatccaggtggg	5	11	18	7	4	1	0	1	0	0	0	4	1	2	0	1	5	1	3	1	5	2	3			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr1:38082185G>A	ENST00000356545.2	-	5	1044	c.257C>T	c.(256-258)gCc>gTc	p.A86V	RSPO1_ENST00000401070.1_Missense_Mutation_p.A86V|RSPO1_ENST00000401071.2_Missense_Mutation_p.A86V|RSPO1_ENST00000373059.1_Missense_Mutation_p.A59V|RSPO1_ENST00000401068.1_Missense_Mutation_p.A86V|RSPO1_ENST00000401069.1_Missense_Mutation_p.A86V	NM_001038633.3	NP_001033722.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	86					positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGGGTTGCGGGCGTCGAAGTA	0.612													5	68					0	0	1	0	0	A	38082185	G	A	38082185	3	1	230	1	0	0	0	0	1	0	0	0	13761	1203	42	2	550	2	RSPO1	1	38082185	Missense_Mutation	SNP	G	TCGA-J4-A6G1-01A-11D-A30X-08	6893065	38082185	211168436	3	10639											
C1orf173	127254	broad.mit.edu	37	chr1	75038567	75038567	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttcctcttcactttctcCgacatcactcacagccaccc	7	12	3	19	1	5	0	3	0	2	0	7	1	6	0	4	0	2	1	4	0	0	3			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr1:75038567C>T	ENST00000326665.5	-	14	3045	c.2827G>A	c.(2827-2829)Gga>Aga	p.G943R	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	943	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCACTTTCTCCGACATCACTC	0.547													10	130					0	0	1	0	0	T	75038567	C	T	75038567	3	4	230	1	0	0	0	0	1	0	0	0	2027	661	23	1	1769	1	C1orf173	1	75038567	Missense_Mutation	SNP	C	TCGA-J4-A6G1-01A-11D-A30X-08	36956382	75038567	174212054	4	10640											
FLG	2312	broad.mit.edu	37	chr1	152276820	152276820	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgtgagtgtctagagctGtccgcctgagtggaagcttc	7	11	14	9	1	1	3	0	2	1	1	3	5	2	4	2	1	2	2	2	1	2	2			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr1:152276820G>C	ENST00000368799.1	-	3	10577	c.10542C>G	c.(10540-10542)gaC>gaG	p.D3514E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3514	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCTAGAGCTGTCCGCCTGAG	0.567									Ichthyosis				15	281					0	0	1	0	0	C	152276820	G	C	152276820	3	2	230	1	0	0	0	0	1	0	0	0	5955	1368	48	4	1647	4	FLG	1	152276820	Missense_Mutation	SNP	G	TCGA-J4-A6G1-01A-11D-A30X-08	77238253	152276820	96973801	5	10641											
SYT11	23208	broad.mit.edu	37	chr1	155851027	155851027	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgtctactacggcagaaagCgcattgccaagaagaaaacc	16	5	9	11	3	1	3	0	0	1	3	1	3	1	3	2	1	5	2	2	1	7	3			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr1:155851027C>T	ENST00000368324.4	+	4	1277	c.1024C>T	c.(1024-1026)Cgc>Tgc	p.R342C	SYT11_ENST00000539162.1_Missense_Mutation_p.R35C	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	342	C2 2.					cell junction|synaptic vesicle membrane	protein binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			CGGCAGAAAGCGCATTGCCAA	0.468													26	233					0	0	1	0	0	T	155851027	C	T	155851027	3	4	230	1	0	0	0	0	1	0	0	0	15524	768	27	1	1038	1	SYT11	1	155851027	Missense_Mutation	SNP	C	TCGA-J4-A6G1-01A-11D-A30X-08	3574207	155851027	93399594	6	10642											
FCGR2A	2212	broad.mit.edu	37	chr1	161480636	161480636	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttccctagtgcccagcatggGcagctcttcaccaatgggga	8	9	11	13	0	2	0	1	0	1	0	3	1	3	1	3	3	3	3	3	3	2	3			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr1:161480636G>T	ENST00000271450.6	+	5	670	c.632G>T	c.(631-633)gGc>gTc	p.G211V	FCGR2A_ENST00000467525.1_3'UTR|FCGR2A_ENST00000367972.4_Missense_Mutation_p.G210V	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	211						integral to membrane|plasma membrane	IgG binding|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCCAGCATGGGCAGCTCTTCA	0.512													7	114					0.0293803	0.0293803	1	1	0	T	161480636	G	T	161480636	3	4	230	1	0	0	0	0	1	0	0	0	5814	1203	42	4	650	4	FCGR2A	1	161480636	Missense_Mutation	SNP	G	TCGA-J4-A6G1-01A-11D-A30X-08	5629609	161480636	87769985	7	10643											
HMCN1	83872	broad.mit.edu	37	chr1	186106992	186106992	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcacaaggagctgtggacgCggcaaccaaaccaggaccag	13	3	13	12	2	0	0	0	0	0	0	0	3	0	3	3	4	4	3	3	4	3	0			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr1:186106992C>T	ENST00000271588.4	+	89	14041	c.13812C>T	c.(13810-13812)cgC>cgT	p.R4604R	HMCN1_ENST00000367492.2_Silent_p.R4604R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4604	TSP type-1 2.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.R4604R(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GCTGTGGACGCGGCAACCAAA	0.463													5	95					0	0	1	0	0	T	186106992	C	T	186106992	2	4	230	1	0	0	0	0	0	0	0	1	7261	755	27	1		1	HMCN1	1	186106992	Silent	SNP	C	TCGA-J4-A6G1-01A-11D-A30X-08	24626356	186106992	63143629	8	10644											
RYR2	6262	broad.mit.edu	37	chr1	237991726	237991726	+	Frame_Shift_Del	DEL	A	A	-																															actaagagaccaacaggaacAagtcaaagaagacatggagg																										TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr1:237991726delA	ENST00000366574.2	+	102	14953	c.14636delA	c.(14635-14637)cafs	p.Q4879fs	RYR2_ENST00000542537.1_Frame_Shift_Del_p.Q4863fs|RYR2_ENST00000360064.6_Frame_Shift_Del_p.Q4885fs	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4879					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAACAGGAACAAGTCAAAGAA	0.363													2	4	---	---	---	---						-	237991726	A	-	237991726	7	5	230	1	0	1	0	1	0	0	0	0	13821	130	5	0	15042	0	RYR2	1	237991726	Frame_Shift_Del	DEL	A	TCGA-J4-A6G1-01A-11D-A30X-08	51884734	237991726	11258895	9	10645											
NEU2	4759	broad.mit.edu	37	chr2	233899740	233899740	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttcaccctgaagcaagcCttcccagctgagtacctgcc	9	9	8	15	0	1	2	1	2	0	0	2	2	2	2	5	0	5	4	5	0	3	3			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr2:233899740C>A	ENST00000233840.3	+	2	1116	c.1116C>A	c.(1114-1116)gcC>gcA	p.A372A		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	372							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		TGAAGCAAGCCTTCCCAGCTG	0.597													7	136					5.18039e-06	5.68172e-06	1	1	0	A	233899740	C	A	233899740	2	1	230	1	0	0	0	0	0	0	0	1	10389	668	24	4		4	NEU2	2	233899740	Silent	SNP	C	TCGA-J4-A6G1-01A-11D-A30X-08		233899740	9299633	10	10646											
HYAL1	3373	broad.mit.edu	37	chr3	50340316	50340316	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggccggttgggtagcaagggGcccctaaagccttgggccat	7	7	16	11	1	0	0	0	0	0	0	0	0	0	0	5	6	2	3	5	6	4	4			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr3:50340316G>T	ENST00000266031.4	-	1	687	c.72C>A	c.(70-72)ggC>ggA	p.G24G	HYAL1_ENST00000447605.2_Intron|HYAL1_ENST00000320295.8_Silent_p.G24G|HYAL1_ENST00000395143.2_Silent_p.G24G|HYAL1_ENST00000457214.2_Intron|HYAL1_ENST00000395144.2_Silent_p.G24G			Q12794	HYAL1_HUMAN	hyaluronoglucosaminidase 1	24						extracellular space|lysosome	hyalurononglucosaminidase activity			cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	Hyaluronidase(DB00070)	GTAGCAAGGGGCCCCTAAAGC	0.612													4	53					0.000602214	0.000620463	1	1	0	T	50340316	G	T	50340316	2	4	230	1	0	0	0	0	0	0	0	1	7507	1190	42	4		4	HYAL1	3	50340316	Silent	SNP	G	TCGA-J4-A6G1-01A-11D-A30X-08		50340316	147682114	11	10647											
ZCCHC4	29063	broad.mit.edu	37	chr4	25314511	25314511	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaagctcgggaatggaggTggtgcttcctttggatcctg	6	11	17	7	1	0	0	0	0	0	0	3	4	2	4	2	6	2	2	2	6	2	2			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr4:25314511T>C	ENST00000302874.4	+	1	104	c.80T>C	c.(79-81)gTg>gCg	p.V27A	ZCCHC4_ENST00000505451.1_3'UTR	NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	27							methyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				GGAATGGAGGTGGTGCTTCCT	0.672											OREG0016141	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	100					0	0	1	0	0	C	25314511	T	C	25314511	3	2	230	1	0	0	0	0	1	0	0	0	17648	1696	59	3	82	3	ZCCHC4	4	25314511	Missense_Mutation	SNP	T	TCGA-J4-A6G1-01A-11D-A30X-08		25314511	165839765	12	10648											
PCDHB15	0	broad.mit.edu	37	chr5	140626461	140626461	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaccgagcagagcataaccGtgctggtgtcggacgtcaat	12	7	12	10	4	1	1	1	0	0	1	2	3	1	2	2	2	5	3	2	2	3	1			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr5:140626461G>A	ENST00000231173.3	+	1	1315	c.1315G>A	c.(1315-1317)Gtg>Atg	p.V439M		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		439	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGCATAACCGTGCTGGTGTC	0.592													7	133					0	0	1	0	0	A	140626461	G	A	140626461	3	1	230	1	0	0	0	0	1	0	0	0	11587	1145	40	1	1317	1	PCDHB15	5	140626461	Missense_Mutation	SNP	G	TCGA-J4-A6G1-01A-11D-A30X-08		140626461	40288799	13	10649											
EPO	2056	broad.mit.edu	37	chr7	100320666	100320666	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgaacaatcactgctgacacTttccgcaaactcttccgagt	11	10	6	14	3	2	1	1	1	1	0	4	3	4	1	2	0	3	2	2	0	3	2			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr7:100320666T>G	ENST00000252723.2	+	5	673	c.492T>G	c.(490-492)acT>acG	p.T164T		NM_000799.2	NP_000790.2	P01588	EPO_HUMAN	erythropoietin	164					blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction	extracellular space	erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity			central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12	Lung NSC(181;0.041)|all_lung(186;0.0581)				Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	CTGCTGACACTTTCCGCAAAC	0.572													7	149					0	0	1	0	0	G	100320666	T	G	100320666	2	3	230	1	0	0	0	0	0	0	0	1	5216	1596	56	5		5	EPO	7	100320666	Silent	SNP	T	TCGA-J4-A6G1-01A-11D-A30X-08		100320666	58817997	14	10650											
TBC1D2	55357	broad.mit.edu	37	chr9	100970983	100970983	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcagtagccgatggtggggTtctgccaggagaaggccagc	8	6	18	9	1	1	1	0	0	1	1	1	3	1	1	3	6	3	3	3	6	2	2			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr9:100970983T>G	ENST00000375066.5	-	9	2208	c.2117A>C	c.(2116-2118)aAc>aCc	p.N706T	TBC1D2_ENST00000375064.1_Missense_Mutation_p.N706T|TBC1D2_ENST00000493589.2_5'UTR|TBC1D2_ENST00000342112.5_Missense_Mutation_p.N488T|TBC1D2_ENST00000375063.1_Missense_Mutation_p.N246T	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	706	Rab-GAP TBC.					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		GATGGTGGGGTTCTGCCAGGA	0.602													4	49					0	0	1	0	0	G	100970983	T	G	100970983	3	3	230	1	0	0	0	0	1	0	0	0	15665	1725	60	5	656	5	TBC1D2	9	100970983	Missense_Mutation	SNP	T	TCGA-J4-A6G1-01A-11D-A30X-08		100970983	40242448	15	10651											
MAPKAP1	79109	broad.mit.edu	37	chr9	128268595	128268595	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ggcggccaacgtactgttctCgcggaccaggcagaactccc	8	6	12	15	4	1	1	0	0	1	1	3	2	2	2	3	4	3	3	3	4	3	2			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr9:128268595C>G	ENST00000265960.3	-	8	1392	c.1060G>C	c.(1060-1062)Gag>Cag	p.E354Q	MAPKAP1_ENST00000350766.3_Intron|MAPKAP1_ENST00000373497.5_Intron|MAPKAP1_ENST00000373503.3_Missense_Mutation_p.E162Q|MAPKAP1_ENST00000373511.2_Missense_Mutation_p.E354Q|MAPKAP1_ENST00000394063.1_Missense_Mutation_p.E162Q|MAPKAP1_ENST00000373498.1_Missense_Mutation_p.E354Q	NM_001006617.1	NP_001006618.1	Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1	354					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						GTACTGTTCTCGCGGACCAGG	0.577													3	53					0	0	1	0	0	G	128268595	C	G	128268595	3	3	230	1	0	0	0	0	1	0	0	0	9338	893	31	4	528	4	MAPKAP1	9	128268595	Missense_Mutation	SNP	C	TCGA-J4-A6G1-01A-11D-A30X-08	27297612	128268595	12944836	16	10652											
RBM17	84991	broad.mit.edu	37	chr10	6157238	6157238	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgatgaagcagtacggataTttttagaatttgagagagtt	14	14	11	2	1	0	5	0	3	0	2	0	7	0	6	0	1	2	3	0	1	5	7			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr10:6157238T>C	ENST00000446108.1	+	11	1710	c.1066T>C	c.(1066-1068)Ttt>Ctt	p.F356L	RBM17_ENST00000476706.1_3'UTR|RBM17_ENST00000379888.4_Missense_Mutation_p.F356L	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	356	RRM.				mRNA processing|RNA splicing	spliceosomal complex	nucleotide binding|protein binding|RNA binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						AGTACGGATATTTTTAGAATT	0.343													3	24					0	0	1	0	0	C	6157238	T	C	6157238	3	2	230	1	0	0	0	0	1	0	0	0	13171	1493	52	3	1104	3	RBM17	10	6157238	Missense_Mutation	SNP	T	TCGA-J4-A6G1-01A-11D-A30X-08		6157238	129377509	17	10653											
DHX8	1659	broad.mit.edu	37	chr17	41582116	41582116	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggcaacaaagcctcttacGgaaaaaagacccagatgtca	16	5	10	10	1	2	2	1	0	1	2	2	3	2	3	2	3	3	1	2	3	6	1			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr17:41582116G>A	ENST00000262415.3	+	12	1723	c.1651G>A	c.(1651-1653)Gga>Aga	p.G551R	DHX8_ENST00000540306.1_Missense_Mutation_p.G551R	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	551						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		AGCCTCTTACGGAAAAAAGAC	0.478													9	118					0	0	1	0	0	A	41582116	G	A	41582116	3	1	230	1	0	0	0	0	1	0	0	0	4543	1117	39	1	1697	1	DHX8	17	41582116	Missense_Mutation	SNP	G	TCGA-J4-A6G1-01A-11D-A30X-08		41582116	39613094	18	10654											
GATAD2A	54815	broad.mit.edu	37	chr19	19576172	19576172	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agaatgaccgaagaagcatgCcgaacacggagtcagaaacg	17	3	12	9	4	1	4	1	1	0	3	1	7	1	5	2	1	4	1	2	1	5	0			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr19:19576172C>T	ENST00000404158.1	+	4	436	c.18C>T	c.(16-18)tgC>tgT	p.C6C	GATAD2A_ENST00000537887.1_5'UTR|GATAD2A_ENST00000494516.1_3'UTR|GATAD2A_ENST00000360315.3_Silent_p.C6C|GATAD2A_ENST00000252577.5_Silent_p.C6C|GATAD2A_ENST00000358713.3_Silent_p.C6C			Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	6					DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						AAGAAGCATGCCGAACACGGA	0.473													4	49					0	0	1	0	0	T	19576172	C	T	19576172	2	4	230	1	0	0	0	0	0	0	0	1	6300	747	26	2		2	GATAD2A	19	19576172	Silent	SNP	C	TCGA-J4-A6G1-01A-11D-A30X-08		19576172	39552811	19	10655											
DDX27	55661	broad.mit.edu	37	chr20	47850144	47850144	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccttgaagaatcctgtcCggatatttgtgaacagcaac	11	12	8	10	1	1	3	0	2	1	1	4	4	3	4	3	1	3	1	3	1	5	3			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr20:47850144C>T	ENST00000371764.4	+	11	1273	c.1264C>T	c.(1264-1266)Cgg>Tgg	p.R422W	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	422	Helicase ATP-binding.					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GAATCCTGTCCGGATATTTGT	0.547													8	174					0	0	1	0	0	T	47850144	C	T	47850144	3	4	230	1	0	0	0	0	1	0	0	0	4377	643	23	1	1306	1	DDX27	20	47850144	Missense_Mutation	SNP	C	TCGA-J4-A6G1-01A-11D-A30X-08		47850144	15175376	20	10656											
IFT27	11020	broad.mit.edu	37	chr22	37163883	37163883	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggaagatctgtgccagggCggtcttgcccactgctgggt	5	9	16	11	2	2	1	0	0	2	1	2	2	2	2	2	4	3	1	2	4	1	1			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr22:37163883C>T	ENST00000340630.5	-	2	500	c.55G>A	c.(55-57)Gcc>Acc	p.A19T	IFT27_ENST00000433985.2_Missense_Mutation_p.A20T|IFT27_ENST00000453009.2_5'UTR	NM_006860.4	NP_006851.1	Q9BW83	IFT27_HUMAN	intraflagellar transport 27 homolog (Chlamydomonas)	20					small GTPase mediated signal transduction	intraflagellar transport particle B|microtubule-based flagellum	GTP binding			endometrium(3)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						TGTGCCAGGGCGGTCTTGCCC	0.512													13	218					0	0	1	0	0	T	37163883	C	T	37163883	3	4	230	1	0	0	0	0	1	0	0	0	7603	768	27	1	526	1	IFT27	22	37163883	Missense_Mutation	SNP	C	TCGA-J4-A6G1-01A-11D-A30X-08		37163883	14140683	21	10657											
GTSE1	51512	broad.mit.edu	37	chr22	46724668	46724668	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggggttctcctccttcccGtgtgcctcaggcacttaact	5	12	9	15	1	2	0	1	0	1	0	5	0	4	0	4	3	2	2	4	3	1	3			TCGA-J4-A6G1-01A-11D-A30X-08	TCGA-J4-A6G1-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2f45990-6e87-46f9-893c-8db4e8eec983	42a1f7a6-b577-4000-9a4f-c6cd38462317	g.chr22:46724668G>A	ENST00000454366.1	+	10	2020	c.1808G>A	c.(1807-1809)cGt>cAt	p.R603H		NM_016426.6	NP_057510.4	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	584					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		CCTCCTTCCCGTGTGCCTCAG	0.517													4	111					0	0	1	0	0	A	46724668	G	A	46724668	3	1	230	1	0	0	0	0	1	0	0	0	6926	1145	40	1	1842	1	GTSE1	22	46724668	Missense_Mutation	SNP	G	TCGA-J4-A6G1-01A-11D-A30X-08	9560785	46724668	4579898	22	10658											
MTOR	2475	broad.mit.edu	37	chr1	11169351	11169351	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatgacacactcaccagtGagcttatctcgaaccctgtt	11	10	6	14	1	2	2	1	2	1	0	3	3	2	2	2	0	2	2	2	0	2	2			TCGA-J4-A6G3-01A-11D-A30X-08	TCGA-J4-A6G3-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68b542b2-f763-47c4-9df4-3f92060c8495	5f191346-ea91-4227-861e-18f4cd4ecc5f	g.chr1:11169351G>T	ENST00000361445.4	-	56	7600	c.7524C>A	c.(7522-7524)ctC>ctA	p.L2508L	MTOR_ENST00000376838.1_Silent_p.L713L	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2508	PI3K/PI4K.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						ACTCACCAGTGAGCTTATCTC	0.428													4	87					0.150653	0.154001	1	1	0	T	11169351	G	T	11169351	2	4	231	1	0	0	0	0	0	0	0	1	10002	1277	45	4		4	MTOR	1	11169351	Silent	SNP	G	TCGA-J4-A6G3-01A-11D-A30X-08		11169351	238081270	1	10659											
THRAP3	9967	broad.mit.edu	37	chr1	36748270	36748273	+	Frame_Shift_Del	DEL	TCTC	TCTC	-																															agtctcggtcccgaagccgaTctctctctcgttcaaggaag																										TCGA-J4-A6G3-01A-11D-A30X-08	TCGA-J4-A6G3-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68b542b2-f763-47c4-9df4-3f92060c8495	5f191346-ea91-4227-861e-18f4cd4ecc5f	g.chr1:36748270_36748273delTCTC	ENST00000354618.5	+	3	330_333	c.106_109delTCTC	c.(106-111)tcfs	p.SL36fs	THRAP3_ENST00000469141.2_Frame_Shift_Del_p.SL36fs	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	36	Arg-rich.|Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCGAAGCCGATCTCTCTCTCGTTC	0.446			T	USP6	aneurysmal bone cysts								9	64	---	---	---	---						-	36748273	TCTC	-	36748270	7	5	231	1	0	1	0	1	0	0	0	0	15934	1435	50	0	108	0	THRAP3	1	36748270	Frame_Shift_Del	DEL	TCTC	TCGA-J4-A6G3-01A-11D-A30X-08	25578919	36748270	212502351	2	10660											
LRRIQ3	127255	broad.mit.edu	37	chr1	74507071	74507071	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttaagttttgaactaataaaCgctctgaagccttttgggat	12	15	8	6	1	1	2	0	2	1	0	1	3	1	3	1	1	3	2	1	1	6	7			TCGA-J4-A6G3-01A-11D-A30X-08	TCGA-J4-A6G3-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68b542b2-f763-47c4-9df4-3f92060c8495	5f191346-ea91-4227-861e-18f4cd4ecc5f	g.chr1:74507071C>T	ENST00000354431.4	-	7	1735	c.1544G>A	c.(1543-1545)cGt>cAt	p.R515H	LRRIQ3_ENST00000395089.1_Missense_Mutation_p.R515H	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	515								p.R515H(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						AACTAATAAACGCTCTGAAGC	0.363													5	82					0	0	1	0	0	T	74507071	C	T	74507071	3	4	231	1	0	0	0	0	1	0	0	0	9075	536	19	1	338	1	LRRIQ3	1	74507071	Missense_Mutation	SNP	C	TCGA-J4-A6G3-01A-11D-A30X-08	37758801	74507071	174743550	3	10661											
SSX2IP	117178	broad.mit.edu	37	chr1	85127952	85127952	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagaagagaaatcatttcctTtttcatttgttgaagaacct	14	15	6	6	0	2	4	2	1	0	3	3	5	3	4	2	0	1	1	2	0	5	5			TCGA-J4-A6G3-01A-11D-A30X-08	TCGA-J4-A6G3-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68b542b2-f763-47c4-9df4-3f92060c8495	5f191346-ea91-4227-861e-18f4cd4ecc5f	g.chr1:85127952T>C	ENST00000437941.2	-	7	1127	c.775A>G	c.(775-777)Aag>Gag	p.K259E	SSX2IP_ENST00000603677.1_Intron|SSX2IP_ENST00000370612.4_Missense_Mutation_p.K286E|SSX2IP_ENST00000342203.3_Missense_Mutation_p.K286E|SSX2IP_ENST00000605755.1_Missense_Mutation_p.K259E	NM_001166295.1|NM_001166417.1	NP_001159767.1|NP_001159889.1	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting protein	286					cell adhesion	nucleus|protein complex				endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		ATCATTTCCTTTTTCATTTGT	0.328													4	88					0	0	1	0	0	C	85127952	T	C	85127952	3	2	231	1	0	0	0	0	1	0	0	0	15260	1850	64	3	1016	3	SSX2IP	1	85127952	Missense_Mutation	SNP	T	TCGA-J4-A6G3-01A-11D-A30X-08	10620881	85127952	164122669	4	10662											
PRSS38	339501	broad.mit.edu	37	chr1	228003856	228003856	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcgcccgagaggaagtggCcgtggcaggtcagcgtgcac	7	5	17	12	4	1	1	1	0	0	1	1	3	1	2	2	4	3	2	2	4	1	0			TCGA-J4-A6G3-01A-11D-A30X-08	TCGA-J4-A6G3-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68b542b2-f763-47c4-9df4-3f92060c8495	5f191346-ea91-4227-861e-18f4cd4ecc5f	g.chr1:228003856C>T	ENST00000366757.3	+	2	238	c.214C>T	c.(214-216)Ccg>Tcg	p.P72S		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	72	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GAGGAAGTGGCCGTGGCAGGT	0.652													4	130					0	0	1	0	0	T	228003856	C	T	228003856	3	4	231	1	0	0	0	0	1	0	0	0	12676	739	26	2	220	2	PRSS38	1	228003856	Missense_Mutation	SNP	C	TCGA-J4-A6G3-01A-11D-A30X-08	142875904	228003856	21246765	5	10663											
FGD5	152273	broad.mit.edu	37	chr3	14861542	14861542	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgcacaggatgagtccgccGaggagagctgccagattgtc	10	7	14	10	2	0	3	0	1	0	2	2	6	1	4	3	2	3	2	3	2	0	1			TCGA-J4-A6G3-01A-11D-A30X-08	TCGA-J4-A6G3-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68b542b2-f763-47c4-9df4-3f92060c8495	5f191346-ea91-4227-861e-18f4cd4ecc5f	g.chr3:14861542G>A	ENST00000285046.5	+	1	1074	c.964G>A	c.(964-966)Gag>Aag	p.E322K	FGD5_ENST00000543601.1_Missense_Mutation_p.E81K	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	322	Glu-rich.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						TGAGTCCGCCGAGGAGAGCTG	0.552													4	61					0	0	1	0	0	A	14861542	G	A	14861542	3	1	231	1	0	0	0	0	1	0	0	0	5869	1059	37	1	966	1	FGD5	3	14861542	Missense_Mutation	SNP	G	TCGA-J4-A6G3-01A-11D-A30X-08		14861542	183160888	6	10664											
CLASP2	23122	broad.mit.edu	37	chr3	33552238	33552238	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggccaacactgatgccgcttCctcagcagatctcaccacct	9	8	7	17	1	2	2	2	1	1	1	4	2	3	2	5	1	3	2	5	1	1	1			TCGA-J4-A6G3-01A-11D-A30X-08	TCGA-J4-A6G3-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68b542b2-f763-47c4-9df4-3f92060c8495	5f191346-ea91-4227-861e-18f4cd4ecc5f	g.chr3:33552238C>T	ENST00000399362.4	-	37	4503	c.4150G>A	c.(4150-4152)Gaa>Aaa	p.E1384K	CLASP2_ENST00000359576.5_Missense_Mutation_p.E1376K|CLASP2_ENST00000307312.7_Missense_Mutation_p.E866K|CLASP2_ENST00000539981.1_3'UTR|CLASP2_ENST00000480013.1_Missense_Mutation_p.E1164K|CLASP2_ENST00000468888.2_Missense_Mutation_p.E1385K|CLASP2_ENST00000461133.3_Missense_Mutation_p.E1144K	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN	cytoplasmic linker associated protein 2	1386										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						GATGCCGCTTCCTCAGCAGAT	0.383													3	17					0	0	1	0	0	T	33552238	C	T	33552238	3	4	231	1	0	0	0	0	1	0	0	0	3478	864	30	2	403	2	CLASP2	3	33552238	Missense_Mutation	SNP	C	TCGA-J4-A6G3-01A-11D-A30X-08	18690696	33552238	164470192	7	10665											
IQCG	84223	broad.mit.edu	37	chr3	197665464	197665464	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccgtagtcatgatggtcTgccttgtaggttttttgaag	6	17	11	7	1	3	2	1	2	2	0	4	2	3	2	2	2	1	3	2	2	3	6			TCGA-J4-A6G3-01A-11D-A30X-08	TCGA-J4-A6G3-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68b542b2-f763-47c4-9df4-3f92060c8495	5f191346-ea91-4227-861e-18f4cd4ecc5f	g.chr3:197665464T>A	ENST00000265239.6	-	5	894	c.470A>T	c.(469-471)cAg>cTg	p.Q157L	IQCG_ENST00000455191.1_Missense_Mutation_p.Q157L|IQCG_ENST00000453254.1_Missense_Mutation_p.Q157L	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	157										autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		CATGATGGTCTGCCTTGTAGG	0.428													17	198					0	0	1	0	0	A	197665464	T	A	197665464	3	1	231	1	0	0	0	0	1	0	0	0	7854	1580	55	5	893	5	IQCG	3	197665464	Missense_Mutation	SNP	T	TCGA-J4-A6G3-01A-11D-A30X-08	164113226	197665464	356966	8	10666											
FGA	2243	broad.mit.edu	37	chr4	155510000	155510000	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attatattagtggtcaacgaAtgagaatccttattgttctt	12	17	7	5	1	2	1	1	1	1	1	3	3	3	1	1	1	1	1	1	1	7	7			TCGA-J4-A6G3-01A-11D-A30X-08	TCGA-J4-A6G3-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68b542b2-f763-47c4-9df4-3f92060c8495	5f191346-ea91-4227-861e-18f4cd4ecc5f	g.chr4:155510000A>G	ENST00000302053.3	-	3	387	c.309T>C	c.(307-309)caT>caC	p.H103H	FGA_ENST00000403106.3_Silent_p.H103H	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	103					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TGGTCAACGAATGAGAATCCT	0.299													8	100					0	0	1	0	0	G	155510000	A	G	155510000	2	3	231	1	0	0	0	0	0	0	0	1	5863	98	4	3		3	FGA	4	155510000	Silent	SNP	A	TCGA-J4-A6G3-01A-11D-A30X-08		155510000	35644276	9	10667											
SHROOM1	134549	broad.mit.edu	37	chr5	132158689	132158689	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagggcgcaatagacgcgCagctcctccaccggtagtgc	9	5	13	14	4	0	1	0	0	0	1	2	1	2	1	3	2	3	5	3	2	3	2			TCGA-J4-A6G3-01A-11D-A30X-08	TCGA-J4-A6G3-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68b542b2-f763-47c4-9df4-3f92060c8495	5f191346-ea91-4227-861e-18f4cd4ecc5f	g.chr5:132158689C>T	ENST00000378679.3	-	10	3162	c.2358G>A	c.(2356-2358)ctG>ctA	p.L786L	SHROOM1_ENST00000378676.1_Silent_p.L717L|SHROOM1_ENST00000319854.3_Silent_p.L781L	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	786	ASD2.				actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AATAGACGCGCAGCTCCTCCA	0.706													4	39					0	0	1	0	0	T	132158689	C	T	132158689	2	4	231	1	0	0	0	0	0	0	0	1	14348	697	25	2		2	SHROOM1	5	132158689	Silent	SNP	C	TCGA-J4-A6G3-01A-11D-A30X-08		132158689	48756571	10	10668											
ROS1	6098	broad.mit.edu	37	chr6	117662426	117662426	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttaaacatttccacagtgaCaggatgactctctgtacacc	12	11	7	11	0	1	2	0	2	1	0	3	3	2	3	2	1	2	2	2	1	3	3			TCGA-J4-A6G3-01A-11D-A30X-08	TCGA-J4-A6G3-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68b542b2-f763-47c4-9df4-3f92060c8495	5f191346-ea91-4227-861e-18f4cd4ecc5f	g.chr6:117662426C>T	ENST00000368508.3	-	30	5149	c.4951G>A	c.(4951-4953)Gtc>Atc	p.V1651I	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.V1645I	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1651	Fibronectin type-III 7.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TCCACAGTGACAGGATGACTC	0.408			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								4	71					0	0	1	0	0	T	117662426	C	T	117662426	3	4	231	1	0	0	0	0	1	0	0	0	13583	478	17	2	2148	2	ROS1	6	117662426	Missense_Mutation	SNP	C	TCGA-J4-A6G3-01A-11D-A30X-08		117662426	53452641	11	10669											
SAMD9	54809	broad.mit.edu	37	chr7	92734007	92734007	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtggttttctgttctacataTacacttggaaagtgaaggtt	10	16	10	5	0	2	1	0	1	2	0	2	2	2	2	0	3	2	3	0	3	5	8			TCGA-J4-A6G3-01A-11D-A30X-08	TCGA-J4-A6G3-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68b542b2-f763-47c4-9df4-3f92060c8495	5f191346-ea91-4227-861e-18f4cd4ecc5f	g.chr7:92734007T>C	ENST00000379958.2	-	3	1673	c.1404A>G	c.(1402-1404)gtA>gtG	p.V468V		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	468						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GTTCTACATATACACTTGGAA	0.403													7	32					0	0	1	0	0	C	92734007	T	C	92734007	2	2	231	1	0	0	0	0	0	0	0	1	13878	1393	49	3		3	SAMD9	7	92734007	Silent	SNP	T	TCGA-J4-A6G3-01A-11D-A30X-08		92734007	66404656	12	10670											
NUP205	23165	broad.mit.edu	37	chr7	135279306	135279306	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattcttagagtgaaaatgcTcgcttggcactctgtgaaca	12	12	9	8	1	2	3	0	2	2	1	3	3	2	3	0	1	2	3	0	1	5	3			TCGA-J4-A6G3-01A-11D-A30X-08	TCGA-J4-A6G3-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68b542b2-f763-47c4-9df4-3f92060c8495	5f191346-ea91-4227-861e-18f4cd4ecc5f	g.chr7:135279306T>C	ENST00000285968.6	+	13	1868	c.1842T>C	c.(1840-1842)gcT>gcC	p.A614A	NUP205_ENST00000440390.2_Intron	NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN	nucleoporin 205kDa	614					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GTGAAAATGCTCGCTTGGCAC	0.403													5	67					0	0	1	0	0	C	135279306	T	C	135279306	2	2	231	1	0	0	0	0	0	0	0	1	10807	1538	54	3		3	NUP205	7	135279306	Silent	SNP	T	TCGA-J4-A6G3-01A-11D-A30X-08	42545299	135279306	23859357	13	10671											
PAG1	55824	broad.mit.edu	37	chr8	81897133	81897133	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tggtggggcctcctcttctgGatcacatgaatttccaagga	8	12	11	10	0	3	1	1	1	2	0	5	3	5	3	3	5	0	0	3	5	2	2			TCGA-J4-A6G3-01A-11D-A30X-08	TCGA-J4-A6G3-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68b542b2-f763-47c4-9df4-3f92060c8495	5f191346-ea91-4227-861e-18f4cd4ecc5f	g.chr8:81897133G>C	ENST00000220597.4	-	7	1464	c.754C>G	c.(754-756)Cca>Gca	p.P252A		NM_018440.3	NP_060910.3	Q9NWQ8	PAG1_HUMAN	phosphoprotein associated with glycosphingolipid microdomains 1	252					epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			TCCTCTTCTGGATCACATGAA	0.478													7	93					0	0	1	0	0	C	81897133	G	C	81897133	3	2	231	1	0	0	0	0	1	0	0	0	11435	1174	41	4	556	4	PAG1	8	81897133	Missense_Mutation	SNP	G	TCGA-J4-A6G3-01A-11D-A30X-08		81897133	64466889	14	10672											
PKHD1L1	93035	broad.mit.edu	37	chr8	110442248	110442248	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acattactcccctagtcttgGcgataagcccttctcaaggt	9	12	7	13	1	2	0	1	0	2	0	4	1	3	0	3	2	2	0	3	2	4	5			TCGA-J4-A6G3-01A-11D-A30X-08	TCGA-J4-A6G3-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68b542b2-f763-47c4-9df4-3f92060c8495	5f191346-ea91-4227-861e-18f4cd4ecc5f	g.chr8:110442248G>A	ENST00000378402.5	+	27	3315	c.3211G>A	c.(3211-3213)Gcg>Acg	p.A1071T		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1071	IPT/TIG 4.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CCTAGTCTTGGCGATAAGCCC	0.368										HNSCC(38;0.096)			3	22					0	0	1	0	0	A	110442248	G	A	110442248	3	1	231	1	0	0	0	0	1	0	0	0	12020	1203	42	2	3317	2	PKHD1L1	8	110442248	Missense_Mutation	SNP	G	TCGA-J4-A6G3-01A-11D-A30X-08	28545115	110442248	35921774	15	10673											
CFL1	1072	broad.mit.edu	37	chr11	65623504	65623504	+	Frame_Shift_Del	DEL	A	A	-																															ttatctggcagcatcttgacAaaggtggcgtaggggtcgtc																										TCGA-J4-A6G3-01A-11D-A30X-08	TCGA-J4-A6G3-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68b542b2-f763-47c4-9df4-3f92060c8495	5f191346-ea91-4227-861e-18f4cd4ecc5f	g.chr11:65623504delA	ENST00000525451.2	-	3	928	c.213delT	c.(211-213)ttfs	p.F71fs	CFL1_ENST00000308162.5_Frame_Shift_Del_p.F71fs|CFL1_ENST00000531407.1_Frame_Shift_Del_p.F54fs|CFL1_ENST00000531413.1_Frame_Shift_Del_p.F54fs|CFL1_ENST00000524553.1_Frame_Shift_Del_p.F54fs|CFL1_ENST00000527344.1_Frame_Shift_Del_p.F54fs|CFL1_ENST00000534769.1_Frame_Shift_Del_p.F109fs			P23528	COF1_HUMAN	cofilin 1 (non-muscle)	71	ADF-H.				actin cytoskeleton organization|anti-apoptosis|axon guidance|platelet activation|platelet degranulation|response to virus|Rho protein signal transduction	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|kidney(1)|large_intestine(2)|lung(2)	6				READ - Rectum adenocarcinoma(159;0.169)		GCATCTTGACAAAGGTGGCGT	0.537													16	121	---	---	---	---						-	65623504	A	-	65623504	7	5	231	1	0	1	0	1	0	0	0	0	3312	127	5	0	299	0	CFL1	11	65623504	Frame_Shift_Del	DEL	A	TCGA-J4-A6G3-01A-11D-A30X-08		65623504	69383012	16	10674											
CCDC87	55231	broad.mit.edu	37	chr11	66358990	66358990	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggtcagaagagacatggctCatcaactccttgtagacctc	11	10	9	11	0	3	3	3	0	0	3	5	4	4	3	2	2	1	2	2	2	3	2			TCGA-J4-A6G3-01A-11D-A30X-08	TCGA-J4-A6G3-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68b542b2-f763-47c4-9df4-3f92060c8495	5f191346-ea91-4227-861e-18f4cd4ecc5f	g.chr11:66358990C>T	ENST00000333861.3	-	1	1564	c.1497G>A	c.(1495-1497)atG>atA	p.M499I		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	499										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						AGACATGGCTCATCAACTCCT	0.463													21	106					0	0	1	0	0	T	66358990	C	T	66358990	3	4	231	1	0	0	0	0	1	0	0	0	2882	826	29	2	1056	2	CCDC87	11	66358990	Missense_Mutation	SNP	C	TCGA-J4-A6G3-01A-11D-A30X-08	735486	66358990	68647526	17	10675											
CTTN	2017	broad.mit.edu	37	chr11	70282413	70282413	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatctccttcctgaggagcCgggaggctggaccagtcccg	6	8	13	14	2	2	1	1	1	1	0	5	4	4	4	5	4	1	1	5	4	0	1			TCGA-J4-A6G3-01A-11D-A30X-08	TCGA-J4-A6G3-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68b542b2-f763-47c4-9df4-3f92060c8495	5f191346-ea91-4227-861e-18f4cd4ecc5f	g.chr11:70282413C>T	ENST00000376561.3	+	19	1975	c.1804C>T	c.(1804-1806)Cgg>Tgg	p.R602W	CTTN_ENST00000346329.3_3'UTR|CTTN_ENST00000301843.8_3'UTR	NM_001184740.1	NP_001171669.1	Q14247	SRC8_HUMAN	cortactin	0						cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		CCTGAGGAGCCGGGAGGCTGG	0.607													4	66					0	0	1	0	0	T	70282413	C	T	70282413	3	4	231	1	0	0	0	0	1	0	0	0	4068	643	23	1	2028	1	CTTN	11	70282413	Missense_Mutation	SNP	C	TCGA-J4-A6G3-01A-11D-A30X-08	3923423	70282413	64724103	18	10676											
ERBB3	2065	broad.mit.edu	37	chr12	56492616	56492616	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgattggctgaagtaccagaCctgctagagaagggggagcg	11	6	16	8	2	0	3	0	1	0	2	0	6	0	4	2	3	3	3	2	3	4	3			TCGA-J4-A6G3-01A-11D-A30X-08	TCGA-J4-A6G3-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68b542b2-f763-47c4-9df4-3f92060c8495	5f191346-ea91-4227-861e-18f4cd4ecc5f	g.chr12:56492616C>T	ENST00000267101.3	+	23	3206	c.2766C>T	c.(2764-2766)gaC>gaT	p.D922D	ERBB3_ENST00000553131.1_Silent_p.D163D|ERBB3_ENST00000450146.2_Silent_p.D279D|ERBB3_ENST00000549832.1_Silent_p.D42D|ERBB3_ENST00000415288.2_Silent_p.D863D	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	922	Protein kinase.				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			AAGTACCAGACCTGCTAGAGA	0.532													4	78					0	0	1	0	0	T	56492616	C	T	56492616	2	4	231	1	0	0	0	0	0	0	0	1	5236	506	18	2		2	ERBB3	12	56492616	Silent	SNP	C	TCGA-J4-A6G3-01A-11D-A30X-08		56492616	77359279	19	10677											
GRIP1	23426	broad.mit.edu	37	chr12	66788097	66788097	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgtagcgtttaagctccaCggtgtaaataattgctccgg	9	11	10	11	4	0	0	0	0	0	0	2	0	2	0	3	2	3	5	3	2	5	6			TCGA-J4-A6G3-01A-11D-A30X-08	TCGA-J4-A6G3-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68b542b2-f763-47c4-9df4-3f92060c8495	5f191346-ea91-4227-861e-18f4cd4ecc5f	g.chr12:66788097C>T	ENST00000359742.4	-	17	2260	c.2020G>A	c.(2020-2022)Gtg>Atg	p.V674M	GRIP1_ENST00000398016.3_Missense_Mutation_p.V622M|GRIP1_ENST00000286445.7_Missense_Mutation_p.V674M			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	674	PDZ 6.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TTAAGCTCCACGGTGTAAATA	0.413													7	55					0	0	1	0	0	T	66788097	C	T	66788097	3	4	231	1	0	0	0	0	1	0	0	0	6828	536	19	1	1402	1	GRIP1	12	66788097	Missense_Mutation	SNP	C	TCGA-J4-A6G3-01A-11D-A30X-08	10295481	66788097	67063798	20	10678											
MBNL2	10150	broad.mit.edu	37	chr13	98043657	98043657	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taaacattgttactgtacatActatcctgtttcctcctcaa	11	16	3	11	0	1	0	1	0	0	0	4	0	4	0	3	0	4	3	3	0	7	7			TCGA-J4-A6G3-01A-11D-A30X-08	TCGA-J4-A6G3-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68b542b2-f763-47c4-9df4-3f92060c8495	5f191346-ea91-4227-861e-18f4cd4ecc5f	g.chr13:98043657A>G	ENST00000376673.3	+	8	1857	c.1076A>G	c.(1075-1077)tAc>tGc	p.Y359C	MBNL2_ENST00000345429.6_3'UTR|MBNL2_ENST00000445661.2_Missense_Mutation_p.Y192C|MBNL2_ENST00000397601.1_Missense_Mutation_p.Y347C|MBNL2_ENST00000343600.4_Missense_Mutation_p.Y347C			Q5VZF2	MBNL2_HUMAN	muscleblind-like splicing regulator 2	359					mRNA processing|regulation of RNA splicing|RNA splicing	cytoplasm|nucleus	RNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			TACTGTACATACTATCCTGTT	0.363													6	66					0	0	1	0	0	G	98043657	A	G	98043657	3	3	231	1	0	0	0	0	1	0	0	0	9404	391	14	3	1201	3	MBNL2	13	98043657	Missense_Mutation	SNP	A	TCGA-J4-A6G3-01A-11D-A30X-08		98043657	17126221	21	10679											
PAX9	5083	broad.mit.edu	37	chr14	37132444	37132444	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cggcgtgtgcgacaagtacaAtgtgccctccgtgagctcca	8	8	12	13	4	0	1	0	1	0	0	2	2	2	1	3	1	4	2	3	1	3	1			TCGA-J4-A6G3-01A-11D-A30X-08	TCGA-J4-A6G3-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68b542b2-f763-47c4-9df4-3f92060c8495	5f191346-ea91-4227-861e-18f4cd4ecc5f	g.chr14:37132444A>G	ENST00000361487.6	+	2	572	c.347A>G	c.(346-348)aAt>aGt	p.N116S	PAX9_ENST00000554201.1_5'UTR|PAX9_ENST00000402703.2_Missense_Mutation_p.N116S			P55771	PAX9_HUMAN	paired box 9	116	Paired.				multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3)	12	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		GACAAGTACAATGTGCCCTCC	0.607													13	117					0	0	1	0	0	G	37132444	A	G	37132444	3	3	231	1	0	0	0	0	1	0	0	0	11533	101	4	3	353	3	PAX9	14	37132444	Missense_Mutation	SNP	A	TCGA-J4-A6G3-01A-11D-A30X-08		37132444	70217096	22	10680											
NPC2	10577	broad.mit.edu	37	chr14	74959974	74959974	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaatgtagctgccaggaaacGcatcgcggataacgaagttc	13	7	12	9	4	0	0	0	0	0	0	2	4	0	2	1	2	4	4	1	2	5	3			TCGA-J4-A6G3-01A-11D-A30X-08	TCGA-J4-A6G3-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68b542b2-f763-47c4-9df4-3f92060c8495	5f191346-ea91-4227-861e-18f4cd4ecc5f	g.chr14:74959974G>A	ENST00000541064.1	-	1	10	c.4C>T	c.(4-6)Cgt>Tgt	p.R2C	NPC2_ENST00000238633.2_Missense_Mutation_p.R2C|NPC2_ENST00000557510.1_Missense_Mutation_p.R2C|NPC2_ENST00000555619.1_Missense_Mutation_p.R2C|NPC2_ENST00000434013.2_Missense_Mutation_p.R2C			P61916	NPC2_HUMAN	Niemann-Pick disease, type C2	2					cholesterol efflux|cholesterol homeostasis|glycolipid transport|intracellular cholesterol transport|phospholipid transport|regulation of isoprenoid metabolic process|response to virus	extracellular region|lysosome	cholesterol binding|enzyme binding			breast(1)|endometrium(2)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(2)	7				BRCA - Breast invasive adenocarcinoma(234;0.00149)		GCCAGGAAACGCATCGCGGAT	0.667													3	18					0	0	1	0	0	A	74959974	G	A	74959974	3	1	231	1	0	0	0	0	1	0	0	0	10619	1087	38	1	471	1	NPC2	14	74959974	Missense_Mutation	SNP	G	TCGA-J4-A6G3-01A-11D-A30X-08	37827530	74959974	32389566	23	10681											
CYFIP1	23191	broad.mit.edu	37	chr15	22933658	22933658	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atcataacaagatcacacagGtaaggctggtgtttgcacac	14	9	9	9	0	2	1	2	0	0	1	2	1	2	1	0	3	2	4	0	3	3	3			TCGA-J4-A6G3-01A-11D-A30X-08	TCGA-J4-A6G3-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68b542b2-f763-47c4-9df4-3f92060c8495	5f191346-ea91-4227-861e-18f4cd4ecc5f	g.chr15:22933658G>T	ENST00000313077.7	+	7	791		c.e7+1		CYFIP1_ENST00000560848.1_Splice_Site	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1						axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		GATCACACAGGTAAGGCTGGT	0.537													4	65					1	1	1	1	0	T	22933658	G	T	22933658	5	4	231	1	0	0	0	0	0	0	1	0	4160	1275	44	4	689	4	CYFIP1	15	22933658	Splice_Site	SNP	G	TCGA-J4-A6G3-01A-11D-A30X-08		22933658	79597734	24	10682											
SPOP	8405	broad.mit.edu	37	chr17	47696426	47696426	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctacggatgaatttcttgaAtccccagtctttgccttgca	8	15	7	11	1	3	2	0	2	3	0	4	3	4	3	3	1	3	1	3	1	3	5			TCGA-J4-A6G3-01A-11D-A30X-08	TCGA-J4-A6G3-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68b542b2-f763-47c4-9df4-3f92060c8495	5f191346-ea91-4227-861e-18f4cd4ecc5f	g.chr17:47696426A>C	ENST00000393331.3	-	7	867	c.397T>G	c.(397-399)Ttc>Gtc	p.F133V	SPOP_ENST00000504102.1_Missense_Mutation_p.F133V|SPOP_ENST00000503676.1_Missense_Mutation_p.F133V|SPOP_ENST00000393328.2_Missense_Mutation_p.F133V|SPOP_ENST00000347630.2_Missense_Mutation_p.F133V	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	133	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.F133V(4)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						AATTTCTTGAATCCCCAGTCT	0.448										Prostate(2;0.17)			11	105					0	0	1	0	0	C	47696426	A	C	47696426	3	2	231	1	0	0	0	0	1	0	0	0	15140	101	4	5	751	5	SPOP	17	47696426	Missense_Mutation	SNP	A	TCGA-J4-A6G3-01A-11D-A30X-08		47696426	33498784	25	10683											
AXIN2	8313	broad.mit.edu	37	chr17	63554729	63554729	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggcaagtcaccaacatagCgctactcatggtgagggagc	12	6	13	10	1	2	1	2	1	0	0	2	3	2	2	1	3	4	2	1	3	4	2			TCGA-J4-A6G3-01A-11D-A30X-08	TCGA-J4-A6G3-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68b542b2-f763-47c4-9df4-3f92060c8495	5f191346-ea91-4227-861e-18f4cd4ecc5f	g.chr17:63554729C>A	ENST00000307078.5	-	2	323	c.10G>T	c.(10-12)Gct>Tct	p.A4S	CTD-2535L24.2_ENST00000577662.1_3'UTR|AXIN2_ENST00000375702.5_Missense_Mutation_p.A4S	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN	axin 2	4					cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						ACCAACATAGCGCTACTCATG	0.592									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome				3	35					0.004672	0.00488436	1	1	0	A	63554729	C	A	63554729	3	1	231	1	0	0	0	0	1	0	0	0	1235	768	27	4	2561	4	AXIN2	17	63554729	Missense_Mutation	SNP	C	TCGA-J4-A6G3-01A-11D-A30X-08	15858303	63554729	17640481	26	10684											
RAB37	326624	broad.mit.edu	37	chr17	72736966	72736966	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgatccaattcaaagaCggggccttcctgtccggaac	9	10	9	13	2	1	2	1	1	0	1	5	3	5	3	5	3	1	0	5	3	3	3			TCGA-J4-A6G3-01A-11D-A30X-08	TCGA-J4-A6G3-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68b542b2-f763-47c4-9df4-3f92060c8495	5f191346-ea91-4227-861e-18f4cd4ecc5f	g.chr17:72736966C>T	ENST00000392610.1	+	2	194	c.153C>T	c.(151-153)gaC>gaT	p.D51D	RAB37_ENST00000392614.4_Silent_p.D56D|RAB37_ENST00000392615.5_Intron|RAB37_ENST00000528438.1_Silent_p.D24D|RAB37_ENST00000392613.5_Silent_p.D51D|RAB37_ENST00000340415.3_Intron|RAB37_ENST00000402449.4_Intron|RAB37_ENST00000392612.3_Intron			Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family	51					protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						AATTCAAAGACGGGGCCTTCC	0.587													18	190					0	0	1	0	0	T	72736966	C	T	72736966	2	4	231	1	0	0	0	0	0	0	0	1	12979	535	19	1		1	RAB37	17	72736966	Silent	SNP	C	TCGA-J4-A6G3-01A-11D-A30X-08	9182237	72736966	8458244	27	10685											
PLCB1	23236	broad.mit.edu	37	chr20	8639228	8639228	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttaccgttgatcagatgatgGattttatcaaccttaagcag	12	14	8	7	1	2	3	2	2	0	1	2	4	2	4	2	1	3	2	2	1	4	5			TCGA-J4-A6G3-01A-11D-A30X-08	TCGA-J4-A6G3-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68b542b2-f763-47c4-9df4-3f92060c8495	5f191346-ea91-4227-861e-18f4cd4ecc5f	g.chr20:8639228G>A	ENST00000378641.3	+	9	1214	c.739G>A	c.(739-741)Gat>Aat	p.D247N	PLCB1_ENST00000378637.2_Missense_Mutation_p.D247N|PLCB1_ENST00000338037.6_Missense_Mutation_p.D247N	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	247					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TCAGATGATGGATTTTATCAA	0.333													9	48					0	0	1	0	0	A	8639228	G	A	8639228	3	1	231	1	0	0	0	0	1	0	0	0	12075	1174	41	2	773	2	PLCB1	20	8639228	Missense_Mutation	SNP	G	TCGA-J4-A6G3-01A-11D-A30X-08		8639228	54386292	28	10686											
SMARCA1	6594	broad.mit.edu	37	chrX	128599496	128599496	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cggtaagaaaggaatacataCcatggcagtcctagacttga	15	8	10	8	1	0	3	0	1	0	2	1	4	1	4	2	3	2	2	2	3	6	5			TCGA-J4-A6G3-01A-11D-A30X-08	TCGA-J4-A6G3-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68b542b2-f763-47c4-9df4-3f92060c8495	5f191346-ea91-4227-861e-18f4cd4ecc5f	g.chrX:128599496C>T	ENST00000371122.4	-	23	3160		c.e23+1		SMARCA1_ENST00000371123.1_Splice_Site|SMARCA1_ENST00000371121.3_Splice_Site	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1						ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						GGAATACATACCATGGCAGTC	0.353													12	38					0	0	1	0	0	T	128599496	C	T	128599496	5	4	231	1	0	0	0	0	0	0	1	0	14822	521	18	2	141	2	SMARCA1	23	128599496	Splice_Site	SNP	C	TCGA-J4-A6G3-01A-11D-A30X-08		128599496	26671064	29	10687											
ALX3	257	broad.mit.edu	37	chr1	110604148	110604148	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatcttcccataacgctcgCgcttccgccacttggctctg	5	11	9	16	4	2	0	0	0	2	0	5	1	4	1	3	2	1	3	3	2	1	4			TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr1:110604148C>T	ENST00000369792.4	-	3	719	c.632G>A	c.(631-633)cGc>cAc	p.R211H	RP4-773N10.4_ENST00000554749.1_RNA	NM_006492.2	NP_006483.2	O95076	ALX3_HUMAN	ALX homeobox 3	211						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)		ATAACGCTCGCGCTTCCGCCA	0.622													23	42					0	0	1	0	0	T	110604148	C	T	110604148	3	4	232	1	0	0	0	0	1	0	0	0	553	768	27	1	407	1	ALX3	1	110604148	Missense_Mutation	SNP	C	TCGA-J4-A6M7-01A-11D-A31L-08		110604148	138646473	1	10688											
LRIG2	9860	broad.mit.edu	37	chr1	113658960	113658960	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctacttgtcttcccaaggaaCgctgtctgagccacaggaag	10	9	10	12	1	2	1	0	1	2	0	3	3	3	3	2	2	3	1	2	2	4	3			TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr1:113658960C>T	ENST00000361127.4	+	16	2780	c.2582C>T	c.(2581-2583)aCg>aTg	p.T861M	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	861						cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		TCCCAAGGAACGCTGTCTGAG	0.488													14	18					0	0	1	0	0	T	113658960	C	T	113658960	3	4	232	1	0	0	0	0	1	0	0	0	8990	536	19	1	2644	1	LRIG2	1	113658960	Missense_Mutation	SNP	C	TCGA-J4-A6M7-01A-11D-A31L-08	3054812	113658960	135591661	2	10689											
PTPRC	5788	broad.mit.edu	37	chr1	198721481	198721481	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacttatacccttcgtgtctTtgaactgagacattccaagg	11	13	7	10	1	1	2	0	2	1	1	3	3	2	2	2	1	3	0	2	1	5	5			TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr1:198721481T>C	ENST00000367376.2	+	30	3476	c.3305T>C	c.(3304-3306)tTt>tCt	p.F1102S	PTPRC_ENST00000442510.2_Missense_Mutation_p.F1104S|PTPRC_ENST00000352140.3_Missense_Mutation_p.F1054S|PTPRC_ENST00000348564.6_Missense_Mutation_p.F943S|PTPRC_ENST00000594404.1_Missense_Mutation_p.F941S	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1102	Tyrosine-protein phosphatase 2.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CTTCGTGTCTTTGAACTGAGA	0.373													16	26					0	0	1	0	0	C	198721481	T	C	198721481	3	2	232	1	0	0	0	0	1	0	0	0	12849	1841	64	3	3430	3	PTPRC	1	198721481	Missense_Mutation	SNP	T	TCGA-J4-A6M7-01A-11D-A31L-08	85062521	198721481	50529140	3	10690											
OTOF	9381	broad.mit.edu	37	chr2	26696866	26696866	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agagccctcgcacctccactCggtacttgctgagcacgggc	7	7	11	16	3	0	2	0	1	0	1	3	2	1	2	3	2	4	4	3	2	1	2			TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr2:26696866C>T	ENST00000272371.2	-	27	3527	c.3401G>A	c.(3400-3402)cGa>cAa	p.R1134Q	OTOF_ENST00000338581.6_Missense_Mutation_p.R387Q|OTOF_ENST00000339598.3_Missense_Mutation_p.R387Q|OTOF_ENST00000403946.3_Missense_Mutation_p.R1134Q|OTOF_ENST00000402415.3_Missense_Mutation_p.R444Q	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1134					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACCTCCACTCGGTACTTGCT	0.647													30	43					0	0	1	0	0	T	26696866	C	T	26696866	3	4	232	1	0	0	0	0	1	0	0	0	11350	884	31	1	2857	1	OTOF	2	26696866	Missense_Mutation	SNP	C	TCGA-J4-A6M7-01A-11D-A31L-08		26696866	216502507	4	10691											
GRB14	2888	broad.mit.edu	37	chr2	165365287	165365288	+	Frame_Shift_Ins	INS	-	-	T																															tagttagtcggtgctccatgINStttttttttgcctgccagtg																										TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr2:165365287_165365288insT	ENST00000263915.3	-	7	1429_1430	c.891_892insA	c.(889-894)aaatggfs	p.W298fs	GRB14_ENST00000543549.1_Frame_Shift_Ins_p.W211fs	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	298	PH.				blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity	p.K297fs*23(2)		breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						GGTGCTCCATGTTTTTTTTTGC	0.371													7	126	---	---	---	---						T	165365288	-	T	165365287	7	5	232	1	0	1	1	0	0	0	0	0	6798	1377	48	0	762	0	GRB14	2	165365287	Frame_Shift_Ins	INS	-	TCGA-J4-A6M7-01A-11D-A31L-08	138668421	165365287	77834086	5	10692											
GRID2	2895	broad.mit.edu	37	chr4	94138039	94138039	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caacattgtgtgatccaaagGatccatttgctcagaatatg	13	12	8	8	0	1	2	1	1	0	1	3	3	3	3	2	1	2	1	2	1	4	3			TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr4:94138039G>T	ENST00000282020.4	+	6	1198	c.940G>T	c.(940-942)Gat>Tat	p.D314Y	GRID2_ENST00000510992.1_Missense_Mutation_p.D219Y|GRID2_ENST00000505687.1_3'UTR	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	314					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	TGATCCAAAGGATCCATTTGC	0.413													50	66					1.67886e-27	2.09857e-27	1	1	0	T	94138039	G	T	94138039	3	4	232	1	0	0	0	0	1	0	0	0	6813	1174	41	4	962	4	GRID2	4	94138039	Missense_Mutation	SNP	G	TCGA-J4-A6M7-01A-11D-A31L-08		94138039	97016237	6	10693											
PDZD2	23037	broad.mit.edu	37	chr5	32089674	32089674	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccggtgagtccggcagcGtctaggaacggcatgtccgt	6	7	17	11	5	1	1	0	1	1	0	3	2	3	2	3	5	2	2	3	5	2	1	rs150986745		TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr5:32089674G>A	ENST00000438447.1	+	20	6508	c.6120G>A	c.(6118-6120)gcG>gcA	p.A2040A	PDZD2_ENST00000282493.3_Silent_p.A2040A			O15018	PDZD2_HUMAN	PDZ domain containing 2	2040					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GTCCGGCAGCGTCTAGGAACG	0.647													12	248					0	0	1	0	0	A	32089674	G	A	32089674	2	1	232	1	0	0	0	0	0	0	0	1	11748	1132	40	1		1	PDZD2	5	32089674	Silent	SNP	G	TCGA-J4-A6M7-01A-11D-A31L-08		32089674	148825586	7	10694											
BCLAF1	9774	broad.mit.edu	37	chr6	136599814	136599814	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctctgtacccataaggtcGtctcattcctctattatttc	7	17	4	13	1	3	0	1	0	3	0	8	0	5	0	3	1	1	1	3	1	4	6			TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr6:136599814G>A	ENST00000531224.1	-	4	457	c.205C>T	c.(205-207)Cga>Tga	p.R69*	BCLAF1_ENST00000530767.1_Nonsense_Mutation_p.R69*|BCLAF1_ENST00000527536.1_Nonsense_Mutation_p.R69*|BCLAF1_ENST00000353331.4_Nonsense_Mutation_p.R67*|BCLAF1_ENST00000527759.1_Nonsense_Mutation_p.R67*|BCLAF1_ENST00000392348.2_Nonsense_Mutation_p.R67*	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	69					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CCATAAGGTCGTCTCATTCCT	0.433													9	79					0	0	1	0	0	A	136599814	G	A	136599814	4	1	232	1	0	0	0	0	0	1	0	0	1381	1153	40	1	2597	1	BCLAF1	6	136599814	Nonsense_Mutation	SNP	G	TCGA-J4-A6M7-01A-11D-A31L-08		136599814	34515253	8	10695											
TAB2	23118	broad.mit.edu	37	chr6	149700269	149700269	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatgcggaatcagcccacActcttcatatccacaaactc	12	9	5	15	1	4	0	3	0	1	0	6	1	5	1	2	1	3	0	2	1	3	2			TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr6:149700269A>G	ENST00000367456.1	+	4	1795	c.1218A>G	c.(1216-1218)acA>acG	p.T406T	TAB2_ENST00000286332.5_Silent_p.T406T|TAB2_ENST00000538427.1_Silent_p.T406T|TAB2_ENST00000536230.1_Silent_p.T374T|TAB2_ENST00000392282.1_Silent_p.T406T			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	406					activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						ATCAGCCCACACTCTTCATAT	0.502													13	25					0	0	1	0	0	G	149700269	A	G	149700269	2	3	232	1	0	0	0	0	0	0	0	1	15553	146	6	3		3	TAB2	6	149700269	Silent	SNP	A	TCGA-J4-A6M7-01A-11D-A31L-08	13100455	149700269	21414798	9	10696											
AMZ1	155185	broad.mit.edu	37	chr7	2752278	2752278	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atccaggccctgcagcgggaAgtggcagaggaggacctggt	9	5	17	10	1	0	1	0	0	0	1	1	4	1	4	3	6	2	2	3	6	1	0	rs148314719	byFrequency	TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr7:2752278A>C	ENST00000312371.4	+	7	1631	c.1263A>C	c.(1261-1263)gaA>gaC	p.E421D	AMZ1_ENST00000407112.1_3'UTR|AMZ1_ENST00000489665.1_Intron	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	421							metallopeptidase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		TGCAGCGGGAAGTGGCAGAGG	0.692													16	25					0	0	1	0	0	C	2752278	A	C	2752278	3	2	232	1	0	0	0	0	1	0	0	0	592	69	3	5	1285	5	AMZ1	7	2752278	Missense_Mutation	SNP	A	TCGA-J4-A6M7-01A-11D-A31L-08		2752278	156386385	10	10697											
SLC18A1	6570	broad.mit.edu	37	chr8	20004825	20004825	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagcagagtggagcatagaCgatgttgatgaccccagtga	12	8	14	7	1	0	5	0	3	0	2	0	7	0	6	2	1	2	4	2	1	2	3			TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr8:20004825C>T	ENST00000440926.1	-	16	1878	c.1408G>A	c.(1408-1410)Gtc>Atc	p.V470I	SLC18A1_ENST00000437980.1_Intron|SLC18A1_ENST00000265808.7_Missense_Mutation_p.V438I|SLC18A1_ENST00000519026.1_Missense_Mutation_p.V438I|SLC18A1_ENST00000381608.4_Intron|SLC18A1_ENST00000276373.5_Missense_Mutation_p.V470I	NM_001135691.2	NP_001129163.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	470					neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)		GGAGCATAGACGATGTTGATG	0.512													13	51					0	0	1	0	0	T	20004825	C	T	20004825	3	4	232	1	0	0	0	0	1	0	0	0	14480	536	19	1	177	1	SLC18A1	8	20004825	Missense_Mutation	SNP	C	TCGA-J4-A6M7-01A-11D-A31L-08		20004825	126359197	11	10698											
VAV2	7410	broad.mit.edu	37	chr9	136857224	136857224	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgcggccggaagttgatGtccttgaggtcgatggagcc	7	10	15	9	3	1	2	0	2	1	0	3	5	2	4	3	4	2	1	3	4	1	2			TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr9:136857224G>T	ENST00000371851.1	-	1	502	c.177C>A	c.(175-177)gaC>gaA	p.D59E	VAV2_ENST00000371850.3_Missense_Mutation_p.D59E|VAV2_ENST00000406606.3_Missense_Mutation_p.D59E|VAV2_ENST00000486113.1_5'UTR			P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	59	CH.				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		GGAAGTTGATGTCCTTGAGGT	0.726													8	17					0.000274275	0.000309665	1	1	0	T	136857224	G	T	136857224	3	4	232	1	0	0	0	0	1	0	0	0	17192	1368	48	4	2579	4	VAV2	9	136857224	Missense_Mutation	SNP	G	TCGA-J4-A6M7-01A-11D-A31L-08		136857224	4356207	12	10699											
CACNB2	783	broad.mit.edu	37	chr10	18429692	18429692	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagggacatgtccaagtcGcctcccacagcggcggcggc	9	4	13	15	4	0	0	0	0	0	0	3	1	2	1	3	4	1	0	3	4	2	0			TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr10:18429692G>T	ENST00000324631.7	+	1	87	c.27G>T	c.(25-27)tcG>tcT	p.S9S	CACNB2_ENST00000352115.6_Silent_p.S9S|CACNB2_ENST00000377328.1_Silent_p.S9S	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	9					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TGTCCAAGTCGCCTCCCACAG	0.711													9	2					0.000442599	0.000484093	1	1	0	T	18429692	G	T	18429692	2	4	232	1	0	0	0	0	0	0	0	1	2571	1074	38	4		4	CACNB2	10	18429692	Silent	SNP	G	TCGA-J4-A6M7-01A-11D-A31L-08		18429692	117105055	13	10700											
OR52D1	390066	broad.mit.edu	37	chr11	5510687	5510688	+	Frame_Shift_Ins	INS	-	-	C																															tggctcccacattggcatcaINStcctggttttctacatccct																								rs7101919	byFrequency	TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr11:5510687_5510688insC	ENST00000322641.5	+	1	773_774	c.751_752insC	c.(751-753)cctfs	p.P251fs	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	251			I -> T (in dbSNP:rs7101919).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATTGGCATCATCCTGGTTTTC	0.495													13	111	---	---	---	---						C	5510688	-	C	5510687	7	5	232	1	0	1	1	0	0	0	0	0	11162	217	8	0	753	0	OR52D1	11	5510687	Frame_Shift_Ins	INS	-	TCGA-J4-A6M7-01A-11D-A31L-08		5510687	129495829	14	10701											
PDE1B	0	broad.mit.edu	37	chr12	54966490	54966490	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcagccgatgttacccagAcagtccattgcttcttgctc	8	11	8	14	2	1	1	0	0	1	1	3	2	2	1	3	0	4	4	3	0	1	4			TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr12:54966490A>G	ENST00000243052.3	+	7	1136	c.700A>G	c.(700-702)Aca>Gca	p.T234A	PDE1B_ENST00000550620.1_Missense_Mutation_p.T214A|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000538346.1_Missense_Mutation_p.T193A	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	234	Catalytic (By similarity).				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						TGTTACCCAGACAGTCCATTG	0.512													32	301					0	0	1	0	0	G	54966490	A	G	54966490	3	3	232	1	0	0	0	0	1	0	0	0	11681	275	10	3	779	3	PDE1B	12	54966490	Missense_Mutation	SNP	A	TCGA-J4-A6M7-01A-11D-A31L-08		54966490	78885405	15	10702											
GLI1	2735	broad.mit.edu	37	chr12	57865272	57865272	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagggtgggggcagggaaGatgcccccgcccaggaacct	8	3	19	11	1	0	1	0	0	0	1	0	4	0	4	4	6	2	1	4	6	2	0			TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr12:57865272G>T	ENST00000228682.2	+	12	2840	c.2749G>T	c.(2749-2751)Gat>Tat	p.D917Y	GLI1_ENST00000546141.1_Missense_Mutation_p.D876Y|GLI1_ENST00000543426.1_Missense_Mutation_p.D789Y	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	917					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			GGGCAGGGAAGATGCCCCCGC	0.562													5	64					1	1	1	1	0	T	57865272	G	T	57865272	3	4	232	1	0	0	0	0	1	0	0	0	6479	942	33	4	2791	4	GLI1	12	57865272	Missense_Mutation	SNP	G	TCGA-J4-A6M7-01A-11D-A31L-08	2898782	57865272	75986623	16	10703											
TBX5	6910	broad.mit.edu	37	chr12	114841632	114841632	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgctctcgggtttcgaatcGcagggcaggtcttttgcgtc	4	12	14	11	5	2	0	0	0	2	0	6	1	2	0	0	3	1	4	0	3	1	3			TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr12:114841632G>A	ENST00000310346.4	-	2	738	c.72C>T	c.(70-72)tgC>tgT	p.C24C	TBX5_ENST00000552726.1_5'UTR|TBX5_ENST00000349716.5_Intron|TBX5_ENST00000526441.1_Silent_p.C24C|TBX5_ENST00000405440.2_Silent_p.C24C	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	24				GFGLAHTPLEPDAKDLPCDSKPESALGAPSKSPSSPQAAFT QQ -> ALAGAHLWSLTQKTCLRFEPRARSGPPASPPGRPR SRLHPA (in Ref. 1; CAA70592).	cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GTTTCGAATCGCAGGGCAGGT	0.701													25	41					0	0	1	0	0	A	114841632	G	A	114841632	2	1	232	1	0	0	0	0	0	0	0	1	15721	1079	38	1		1	TBX5	12	114841632	Silent	SNP	G	TCGA-J4-A6M7-01A-11D-A31L-08	56976360	114841632	19010263	17	10704											
RYR3	6263	broad.mit.edu	37	chr15	33795933	33795933	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacacaggtgaaaatggcggCgaaggggtgagtacccgaat	14	5	15	7	3	0	2	0	2	0	0	0	4	0	2	1	5	2	1	1	5	6	1			TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr15:33795933C>T	ENST00000389232.4	+	3	343	c.273C>T	c.(271-273)ggC>ggT	p.G91G	RYR3_ENST00000415757.3_Silent_p.G91G	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	91					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AAAATGGCGGCGAAGGGGTGA	0.478													6	15					0	0	1	0	0	T	33795933	C	T	33795933	2	4	232	1	0	0	0	0	0	0	0	1	13822	755	27	1		1	RYR3	15	33795933	Silent	SNP	C	TCGA-J4-A6M7-01A-11D-A31L-08		33795933	68735459	18	10705											
CNTNAP1	8506	broad.mit.edu	37	chr17	40843294	40843294	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttgtactgcaactgtgaCgctgaccagccccagtggtg	7	9	12	13	1	0	2	0	2	0	0	0	2	0	2	4	1	4	3	4	1	2	2	rs144310425		TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr17:40843294C>T	ENST00000264638.4	+	14	2416	c.2199C>T	c.(2197-2199)gaC>gaT	p.D733D	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	733	Fibrinogen C-terminal.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		GCAACTGTGACGCTGACCAGC	0.632													65	109					0	0	1	0	0	T	40843294	C	T	40843294	2	4	232	1	0	0	0	0	0	0	0	1	3669	535	19	1		1	CNTNAP1	17	40843294	Silent	SNP	C	TCGA-J4-A6M7-01A-11D-A31L-08		40843294	40351916	19	10706											
MC3R	4159	broad.mit.edu	37	chr20	54823920	54823920	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaatgcttcgtgctgcctGccctctgttcagccaacact	7	12	8	14	1	2	1	1	1	1	0	3	1	2	1	3	0	6	3	3	0	2	2			TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr20:54823920G>T	ENST00000243911.2	+	1	133	c.21G>T	c.(19-21)ctG>ctT	p.L7L		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	44					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CGTGCTGCCTGCCCTCTGTTC	0.567													66	117					1.53134e-21	1.84817e-21	1	1	0	T	54823920	G	T	54823920	2	4	232	1	0	0	0	0	0	0	0	1	9415	1306	46	4		4	MC3R	20	54823920	Silent	SNP	G	TCGA-J4-A6M7-01A-11D-A31L-08		54823920	8201600	20	10707											
CCT8L2	150160	broad.mit.edu	37	chr22	17071981	17071981	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaccccttcctgggccacaTttattatcccttcagttccc	7	13	4	17	0	1	0	1	0	0	0	4	0	4	0	6	1	0	1	6	1	2	6			TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr22:17071981T>A	ENST00000359963.3	-	1	1719	c.1460A>T	c.(1459-1461)aAt>aTt	p.N487I		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	487					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CTGGGCCACATTTATTATCCC	0.517													64	92					0	0	1	0	0	A	17071981	T	A	17071981	3	1	232	1	0	0	0	0	1	0	0	0	2983	1493	52	5	217	5	CCT8L2	22	17071981	Missense_Mutation	SNP	T	TCGA-J4-A6M7-01A-11D-A31L-08		17071981	34232585	21	10708											
KCNJ4	3761	broad.mit.edu	37	chr22	38823055	38823055	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagggggcggtggggcgggCagcacggtgatcttactctc	5	7	20	9	3	2	1	0	1	2	0	3	2	2	2	0	8	2	2	0	8	1	1			TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chr22:38823055C>G	ENST00000303592.3	-	2	1341	c.1083G>C	c.(1081-1083)ctG>ctC	p.L361L	RP3-434P1.6_ENST00000433230.1_RNA	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	361					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					GTGGGGCGGGCAGCACGGTGA	0.642													4	59					0	0	1	0	0	G	38823055	C	G	38823055	2	3	232	1	0	0	0	0	0	0	0	1	8097	697	25	4		4	KCNJ4	22	38823055	Silent	SNP	C	TCGA-J4-A6M7-01A-11D-A31L-08	21751074	38823055	12481511	22	10709											
PNPLA4	8228	broad.mit.edu	37	chrX	7880088	7880088	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctgccctttgtattccactAgcttcagtcctgcataaatg	8	14	6	13	0	1	0	1	0	0	0	3	0	3	0	4	0	3	3	4	0	4	6			TCGA-J4-A6M7-01A-11D-A31L-08	TCGA-J4-A6M7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68eadfba-d2ec-47a5-9ae8-cbbf066962e8	a8d17ab3-05e9-4f09-a76b-c5740ee14f41	g.chrX:7880088A>G	ENST00000381042.4	-	5	628	c.458T>C	c.(457-459)cTa>cCa	p.L153P	PNPLA4_ENST00000537427.1_Missense_Mutation_p.L66P|PNPLA4_ENST00000444736.1_Missense_Mutation_p.L153P	NM_004650.2	NP_004641.1	P41247	PLPL4_HUMAN	patatin-like phospholipase domain containing 4	153	Patatin.				lipid catabolic process		triglyceride lipase activity			kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7		Colorectal(8;0.0329)|Medulloblastoma(8;0.232)				GTATTCCACTAGCTTCAGTCC	0.378													34	5					0	0	1	0	0	G	7880088	A	G	7880088	3	3	232	1	0	0	0	0	1	0	0	0	12215	420	15	3	315	3	PNPLA4	23	7880088	Missense_Mutation	SNP	A	TCGA-J4-A6M7-01A-11D-A31L-08		7880088	147390472	23	10710											
SLC45A1	50651	broad.mit.edu	37	chr1	8390702	8390702	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcattgactgcttcacgggCggccacgacagctacctggc	7	8	11	15	3	2	1	2	1	0	0	2	2	2	1	2	3	3	2	2	3	1	3			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr1:8390702C>T	ENST00000471889.1	+	5	1534	c.1149C>T	c.(1147-1149)ggC>ggT	p.G383G	SLC45A1_ENST00000481265.1_3'UTR|SLC45A1_ENST00000377479.2_Silent_p.G417G|SLC45A1_ENST00000289877.8_Silent_p.G383G			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	383					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GCTTCACGGGCGGCCACGACA	0.662													33	46					0	0	1	0	0	T	8390702	C	T	8390702	2	4	233	1	0	0	0	0	0	0	0	1	14695	755	27	1		1	SLC45A1	1	8390702	Silent	SNP	C	TCGA-J9-A52B-01A-11D-A26M-08		8390702	240859919	1	10711											
TCEB3	6924	broad.mit.edu	37	chr1	24075567	24075567	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attacagtagacattcttgcGgtaagaactgtgtgacttta	12	14	9	6	1	1	3	0	1	1	2	1	3	1	3	0	1	3	2	0	1	5	7			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr1:24075567G>A	ENST00000418390.2	+	2	481	c.210_splice	c.e2+1	p.A70_splice	TCEB3_ENST00000487554.1_3'UTR	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	70	TFIIS N-terminal.				positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		ACATTCTTGCGGTAAGAACTG	0.348													12	34					0	0	1	0	0	A	24075567	G	A	24075567	5	1	233	1	0	0	0	0	0	0	1	0	15741	1130	39	1	216	1	TCEB3	1	24075567	Splice_Site	SNP	G	TCGA-J9-A52B-01A-11D-A26M-08	15684865	24075567	225175054	2	10712											
SESN2	83667	broad.mit.edu	37	chr1	28599228	28599228	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagggggatgcagatggcaGccctgccccccaggcaccta	8	5	14	14	0	0	2	0	1	0	1	0	3	0	3	5	4	3	3	5	4	1	1			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr1:28599228G>T	ENST00000253063.3	+	5	995	c.674G>T	c.(673-675)aGc>aTc	p.S225I		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	225					cell cycle arrest	cytoplasm|nucleus				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGATGGCAGCCCTGCCCCC	0.632													6	90					2.7689e-08	3.09465e-08	1	1	0	T	28599228	G	T	28599228	3	4	233	1	0	0	0	0	1	0	0	0	14179	971	34	4	692	4	SESN2	1	28599228	Missense_Mutation	SNP	G	TCGA-J9-A52B-01A-11D-A26M-08	4523661	28599228	220651393	3	10713											
LRRIQ3	127255	broad.mit.edu	37	chr1	74649266	74649266	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctttaaatgaaggccattgaActtcacaaaaacaaaatctt	18	11	4	8	0	2	2	1	2	1	0	2	2	2	2	1	1	2	0	1	1	8	5			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr1:74649266A>C	ENST00000354431.4	-	2	294	c.103T>G	c.(103-105)Ttc>Gtc	p.F35V	LRRIQ3_ENST00000370909.2_Missense_Mutation_p.F35V|LRRIQ3_ENST00000395089.1_Missense_Mutation_p.F35V|LRRIQ3_ENST00000370911.3_Missense_Mutation_p.F35V	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	35			F -> C (in dbSNP:rs2274904).							NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						aggccattgaacttcacaaaa	0.338													5	12					0	0	1	0	0	C	74649266	A	C	74649266	3	2	233	1	0	0	0	0	1	0	0	0	9075	43	2	5	1799	5	LRRIQ3	1	74649266	Missense_Mutation	SNP	A	TCGA-J9-A52B-01A-11D-A26M-08	46050038	74649266	174601355	4	10714											
OBSCN	84033	broad.mit.edu	37	chr1	228433234	228433234	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacagaggtgacgtggtacaAggacgggaagaagctgagct	13	5	17	6	2	0	4	0	2	0	2	0	7	0	6	0	4	3	3	0	4	4	1			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr1:228433234A>G	ENST00000570156.2	+	13	3952	c.3878A>G	c.(3877-3879)aAg>aGg	p.K1293R	OBSCN_ENST00000422127.1_Missense_Mutation_p.K1201R|OBSCN_ENST00000284548.11_Missense_Mutation_p.K1201R|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	273	Ig-like 13.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ACGTGGTACAAGGACGGGAAG	0.597													36	99					0	0	1	0	0	G	228433234	A	G	228433234	3	3	233	1	0	0	0	0	1	0	0	0	10860	72	3	3	3644	3	OBSCN	1	228433234	Missense_Mutation	SNP	A	TCGA-J9-A52B-01A-11D-A26M-08	153783968	228433234	20817387	5	10715											
ASTL	431705	broad.mit.edu	37	chr2	96795571	96795571	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgccactcacctctcccaCggggcctggggccacttggg	5	7	12	17	1	2	0	1	0	1	0	3	0	2	0	5	5	1	0	5	5	0	1	rs145550482		TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr2:96795571C>T	ENST00000342380.2	-	8	865	c.866G>A	c.(865-867)cGt>cAt	p.R289H		NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN	astacin-like metallo-endopeptidase (M12 family)	289					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						ACCTCTCCCACGGGGCCTGGG	0.622													22	93					0	0	1	0	0	T	96795571	C	T	96795571	3	4	233	1	0	0	0	0	1	0	0	0	1062	536	19	1	436	1	ASTL	2	96795571	Missense_Mutation	SNP	C	TCGA-J9-A52B-01A-11D-A26M-08		96795571	146403802	6	10716											
DRD3	1814	broad.mit.edu	37	chr3	113850057	113850057	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcttcaaagatgtcgataatCtgccattgctgagttttcga	10	14	9	8	2	2	2	1	1	1	1	4	4	2	2	1	0	2	3	1	0	2	5			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr3:113850057C>G	ENST00000383673.2	-	6	1344	c.914G>C	c.(913-915)aGa>aCa	p.R305T	DRD3_ENST00000460779.1_Missense_Mutation_p.R305T|DRD3_ENST00000467632.1_Missense_Mutation_p.R305T|DRD3_ENST00000295881.7_Intron	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN	dopamine receptor D3	305					activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	TGTCGATAATCTGCCATTGCT	0.517													18	169					0	0	1	0	0	G	113850057	C	G	113850057	3	3	233	1	0	0	0	0	1	0	0	0	4784	913	32	4	296	4	DRD3	3	113850057	Missense_Mutation	SNP	C	TCGA-J9-A52B-01A-11D-A26M-08		113850057	84172373	7	10717											
MTTP	4547	broad.mit.edu	37	chr4	100543853	100543853	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcaatttgagaaaaagtacGaaaggctgtccacaggcaga	16	6	12	7	1	0	2	0	1	0	2	1	4	1	2	1	3	1	4	1	3	5	2			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr4:100543853G>A	ENST00000457717.1	+	19	2789	c.2533G>A	c.(2533-2535)Gaa>Aaa	p.E845K	MTTP_ENST00000265517.5_Missense_Mutation_p.E845K|MTTP_ENST00000511045.1_Missense_Mutation_p.E872K|RP11-766F14.1_ENST00000508578.1_RNA	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	845					lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	GAAAAAGTACGAAAGGCTGTC	0.418													36	48					0	0	1	0	0	A	100543853	G	A	100543853	3	1	233	1	0	0	0	0	1	0	0	0	10012	1059	37	1	2603	1	MTTP	4	100543853	Missense_Mutation	SNP	G	TCGA-J9-A52B-01A-11D-A26M-08		100543853	90610423	8	10718											
CENPE	1062	broad.mit.edu	37	chr4	104065638	104065638	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagtcaaccttatattctcCgtttctatgttttccaggtt	7	19	6	9	1	3	1	1	1	2	0	5	1	4	1	3	1	1	3	3	1	4	8	rs142875576		TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr4:104065638C>G	ENST00000265148.3	-	33	5084	c.4995G>C	c.(4993-4995)acG>acC	p.T1665T	CENPE_ENST00000380026.3_Silent_p.T1640T	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1665					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTATATTCTCCGTTTCTATGT	0.388													11	39					0	0	1	0	0	G	104065638	C	G	104065638	2	3	233	1	0	0	0	0	0	0	0	1	3252	639	23	4		4	CENPE	4	104065638	Silent	SNP	C	TCGA-J9-A52B-01A-11D-A26M-08	3521785	104065638	87088638	9	10719											
ANKRD37	353322	broad.mit.edu	37	chr4	186318457	186318458	+	Splice_Site	INS	-	-	T																															cgctgacctcaaccagcaggINStaactaggtaactgttgctg																										TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr4:186318457_186318458insT	ENST00000335174.4	+	2	620		c.e2+1		ANKRD37_ENST00000507479.1_Splice_Site	NM_181726.2	NP_859077.1	Q7Z713	ANR37_HUMAN	ankyrin repeat domain 37							cytoplasm|nucleus				NS(1)|large_intestine(1)|lung(1)	3		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.27e-25)|Epithelial(43;1.02e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.14e-11)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000118)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|COAD - Colon adenocarcinoma(29;0.00939)|READ - Rectum adenocarcinoma(43;0.155)		CAACCAGCAGGTAACTAGGTAA	0.535													14	44	---	---	---	---						T	186318458	-	T	186318457	8	5	233	1	0	1	1	0	0	0	1	0	661	1275	44	0	187	0	ANKRD37	4	186318457	Splice_Site	INS	-	TCGA-J9-A52B-01A-11D-A26M-08	82252819	186318457	4835819	10	10720											
PPAP2A	8611	broad.mit.edu	37	chr5	54771251	54771251	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggaagggggtatgccttGaagtaagaattgcaaaaggc	13	9	15	4	0	0	2	0	1	0	1	0	3	0	3	1	4	2	4	1	4	7	5			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr5:54771251G>T	ENST00000307259.8	-	2	506	c.86C>A	c.(85-87)tCa>tAa	p.S29*	PPAP2A_ENST00000515132.1_Intron|PPAP2A_ENST00000264775.5_Intron	NM_003711.2	NP_003702.2	O14494	LPP1_HUMAN	phosphatidic acid phosphatase type 2A	29					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|androgen receptor signaling pathway|germ cell migration|negative regulation of cell proliferation|phospholipid dephosphorylation|regulation of lipid metabolic process|sphingolipid metabolic process	integral to plasma membrane|membrane fraction	phosphatidate phosphatase activity|sphingosine-1-phosphate phosphatase activity			breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	9		Lung NSC(810;4.08e-05)|Prostate(74;0.0181)|Breast(144;0.0544)				GGTATGCCTTGAAGTAAGAAT	0.348													3	18					0.115264	0.115264	1	1	0	T	54771251	G	T	54771251	4	4	233	1	0	0	0	0	0	1	0	0	12335	1294	45	4	788	4	PPAP2A	5	54771251	Nonsense_Mutation	SNP	G	TCGA-J9-A52B-01A-11D-A26M-08		54771251	126144009	11	10721											
PCDHB3	0	broad.mit.edu	37	chr5	140481893	140481893	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgcgtgctggtgctggacGccaacgacaactcgcccttc	6	8	12	15	5	0	0	0	0	0	0	2	2	0	1	2	2	5	2	2	2	2	1	rs138158842		TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr5:140481893G>A	ENST00000231130.2	+	1	1660	c.1660G>A	c.(1660-1662)Gcc>Acc	p.A554T		NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		554	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.A554T(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGCTGGACGCCAACGACAA	0.711													20	105					0	0	1	0	0	A	140481893	G	A	140481893	3	1	233	1	0	0	0	0	1	0	0	0	11590	1087	38	1	1662	1	PCDHB3	5	140481893	Missense_Mutation	SNP	G	TCGA-J9-A52B-01A-11D-A26M-08	85710642	140481893	40433367	12	10722											
NOTCH4	4855	broad.mit.edu	37	chr6	32180925	32180925	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcacctgtctgcacagcTggggcggagctttccctcac	5	10	11	15	1	3	0	2	0	1	0	4	1	4	1	2	3	4	4	2	3	0	1	rs34199829		TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr6:32180925T>C	ENST00000375023.3	-	15	2563	c.2425A>G	c.(2425-2427)Agc>Ggc	p.S809G	NOTCH4_ENST00000465528.1_5'UTR	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	809	EGF-like 21.		S -> I (in dbSNP:rs3132961).		cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TCTGCACAGCTGGGGCGGAGC	0.637													4	64					0	0	1	0	0	C	32180925	T	C	32180925	3	2	233	1	0	0	0	0	1	0	0	0	10598	1580	55	3	3650	3	NOTCH4	6	32180925	Missense_Mutation	SNP	T	TCGA-J9-A52B-01A-11D-A26M-08		32180925	138934142	13	10723											
SYNE1	23345	broad.mit.edu	37	chr6	152651002	152651002	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgactcagcgcattcatgaTtctcaagctggactggacct	9	11	10	11	1	3	2	3	2	1	0	4	4	3	4	1	2	2	2	1	2	1	2			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr6:152651002T>G	ENST00000367255.5	-	78	15419	c.14818A>C	c.(14818-14820)Atc>Ctc	p.I4940L	SYNE1_ENST00000448038.1_Missense_Mutation_p.I4869L|SYNE1_ENST00000341594.5_Missense_Mutation_p.I4687L|SYNE1_ENST00000423061.1_Missense_Mutation_p.I4869L|SYNE1_ENST00000265368.4_Missense_Mutation_p.I4940L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4940					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCATTCATGATTCTCAAGCTG	0.493										HNSCC(10;0.0054)			68	137					0	0	1	0	0	G	152651002	T	G	152651002	3	3	233	1	0	0	0	0	1	0	0	0	15502	1493	52	5	11924	5	SYNE1	6	152651002	Missense_Mutation	SNP	T	TCGA-J9-A52B-01A-11D-A26M-08	120470077	152651002	18464065	14	10724											
AGPAT4	56895	broad.mit.edu	37	chr6	161560578	161560578	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aacagccagttcacgagggtCcagggccgccgggggggcac	8	3	17	13	3	1	0	1	0	0	0	2	1	2	0	4	5	2	2	4	5	1	1			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr6:161560578C>G	ENST00000320285.4	-	8	1130	c.918G>C	c.(916-918)tgG>tgC	p.W306C	AGPAT4_ENST00000457520.2_Missense_Mutation_p.W144C|AGPAT4_ENST00000366911.5_3'UTR	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	306					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding			endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		TCACGAGGGTCCAGGGCCGCC	0.627													24	92					0	0	1	0	0	G	161560578	C	G	161560578	3	3	233	1	0	0	0	0	1	0	0	0	386	856	30	4	226	4	AGPAT4	6	161560578	Missense_Mutation	SNP	C	TCGA-J9-A52B-01A-11D-A26M-08	8909576	161560578	9554489	15	10725											
PEX2	5828	broad.mit.edu	37	chr8	77895775	77895775	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcttggctttcaacttctGgacattgataagtggtaaga	11	13	10	7	0	2	2	1	1	1	1	2	3	2	3	0	3	2	3	0	3	3	6			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr8:77895775G>A	ENST00000419564.2	-	4	1104	c.640C>T	c.(640-642)Cag>Tag	p.Q214*	PEX2_ENST00000520103.1_Nonsense_Mutation_p.Q214*|PEX2_ENST00000522527.1_Nonsense_Mutation_p.Q214*|PEX2_ENST00000357039.4_Nonsense_Mutation_p.Q214*	NM_001172087.1	NP_001165558.1	P28328	PEX2_HUMAN	peroxisomal biogenesis factor 2	214					peroxisome organization	integral to peroxisomal membrane	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	14						TTCAACTTCTGGACATTGATA	0.398													13	96					0	0	1	0	0	A	77895775	G	A	77895775	4	1	233	1	0	0	0	0	0	1	0	0	11793	1357	47	2	281	2	PEX2	8	77895775	Nonsense_Mutation	SNP	G	TCGA-J9-A52B-01A-11D-A26M-08		77895775	68468247	16	10726											
SVEP1	79987	broad.mit.edu	37	chr9	113312165	113312165	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgagctaaagcctcaaattCttcaaaactgtgtagcaggt	13	10	9	9	1	3	0	2	0	1	0	3	1	3	0	1	1	4	3	1	1	6	4			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr9:113312165C>A	ENST00000401783.2	-	2	1087	c.751G>T	c.(751-753)Gaa>Taa	p.E251*	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Nonsense_Mutation_p.E251*|SVEP1_ENST00000374469.1_Nonsense_Mutation_p.E228*|SVEP1_ENST00000374461.1_Nonsense_Mutation_p.E228*	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	251	VWFA.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GCCTCAAATTCTTCAAAACTG	0.463													6	22					0.00116845	0.0012808	1	1	0	A	113312165	C	A	113312165	4	1	233	1	0	0	0	0	0	1	0	0	15476	922	32	4	10152	4	SVEP1	9	113312165	Nonsense_Mutation	SNP	C	TCGA-J9-A52B-01A-11D-A26M-08		113312165	27901266	17	10727											
ANKRD30A	91074	broad.mit.edu	37	chr10	37422959	37422959	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagtaactgcagaacattatGctgttacttgtggatttcat	11	15	9	6	0	1	1	1	0	0	1	1	3	1	2	0	1	5	4	0	1	4	5			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr10:37422959G>T	ENST00000374660.1	+	5	664	c.565G>T	c.(565-567)Gct>Tct	p.A189S	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.A189S|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.A189S			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	245						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AGAACATTATGCTGTTACTTG	0.373													53	104					5.82218e-30	6.77274e-30	1	1	0	T	37422959	G	T	37422959	3	4	233	1	0	0	0	0	1	0	0	0	654	1319	46	4	583	4	ANKRD30A	10	37422959	Missense_Mutation	SNP	G	TCGA-J9-A52B-01A-11D-A26M-08		37422959	98111788	18	10728											
FAT3	120114	broad.mit.edu	37	chr11	92577145	92577145	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtttctcacacttacatcCgcgtgcgagtcattgaggaa	11	11	9	10	3	2	1	2	1	1	0	4	3	3	2	1	1	2	1	1	1	3	3			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr11:92577145C>T	ENST00000298047.6	+	18	10629	c.10612C>T	c.(10612-10614)Cgc>Tgc	p.R3538C	FAT3_ENST00000409404.2_Missense_Mutation_p.R3538C|FAT3_ENST00000525166.1_Missense_Mutation_p.R3388C			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3538	Cadherin 32.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CACTTACATCCGCGTGCGAGT	0.468										TCGA Ovarian(4;0.039)			11	284					0	0	1	0	0	T	92577145	C	T	92577145	3	4	233	1	0	0	0	0	1	0	0	0	5724	652	23	1	10682	1	FAT3	11	92577145	Missense_Mutation	SNP	C	TCGA-J9-A52B-01A-11D-A26M-08		92577145	42429371	19	10729											
MTNR1B	4544	broad.mit.edu	37	chr11	92702949	92702949	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgggcgggtgggcagtgcgcCcgggctggtcgggggctggc	1	5	24	11	5	0	0	0	0	0	0	1	0	0	0	1	8	1	3	1	8	0	0			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr11:92702949C>T	ENST00000257068.2	+	1	64	c.58C>T	c.(58-60)Ccg>Tcg	p.P20S		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	20					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	GGCAGTGCGCCCGGGCTGGTC	0.741													6	38					0	0	1	0	0	T	92702949	C	T	92702949	3	4	233	1	0	0	0	0	1	0	0	0	10000	623	22	2	60	2	MTNR1B	11	92702949	Missense_Mutation	SNP	C	TCGA-J9-A52B-01A-11D-A26M-08	125804	92702949	42303567	20	10730											
RFXAP	5994	broad.mit.edu	37	chr13	37401782	37401782	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttcttttctttctaagtcGttactaagaagtccagaagt	10	18	6	7	1	3	2	0	0	3	2	5	2	4	2	1	0	1	1	1	0	5	8			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr13:37401782G>A	ENST00000255476.2	+	3	845	c.711G>A	c.(709-711)tcG>tcA	p.S237S	RFXAP_ENST00000472888.1_3'UTR	NM_000538.3	NP_000529.1	O00287	RFXAP_HUMAN	regulatory factor X-associated protein	237	C-terminal domain.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)	4		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;3.5e-07)|Epithelial(112;1.27e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.0069)|BRCA - Breast invasive adenocarcinoma(63;0.0116)|GBM - Glioblastoma multiforme(144;0.0405)		TTTCTAAGTCGTTACTAAGAA	0.323													9	36					0	0	1	0	0	A	37401782	G	A	37401782	2	1	233	1	0	0	0	0	0	0	0	1	13322	1132	40	1		1	RFXAP	13	37401782	Silent	SNP	G	TCGA-J9-A52B-01A-11D-A26M-08		37401782	77768096	21	10731											
GPR18	0	broad.mit.edu	37	chr13	99907262	99907262	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcctgaaattgttttgaaaCgatgtagtagagaatcacat	15	12	9	5	1	1	3	1	2	0	1	1	5	1	3	1	0	2	3	1	0	5	5			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr13:99907262C>T	ENST00000340807.3	-	3	1421	c.865G>A	c.(865-867)Gtt>Att	p.V289I	UBAC2_ENST00000376440.2_Intron|GPR18_ENST00000397470.2_Missense_Mutation_p.V289I|GPR18_ENST00000397473.2_Missense_Mutation_p.V289I|UBAC2_ENST00000403766.3_Intron			Q14330	GPR18_HUMAN	G protein-coupled receptor 18	289						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)	10	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Glycine(DB00145)	TGTTTTGAAACGATGTAGTAG	0.473													15	63					0	0	1	0	0	T	99907262	C	T	99907262	3	4	233	1	0	0	0	0	1	0	0	0	6715	536	19	1	134	1	GPR18	13	99907262	Missense_Mutation	SNP	C	TCGA-J9-A52B-01A-11D-A26M-08	62505480	99907262	15262616	22	10732											
LINGO1	84894	broad.mit.edu	37	chr15	77908223	77908223	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgctcctcacgccccccGccagcatcctcttgctcacc	5	8	6	22	2	3	0	2	0	1	0	5	0	5	0	7	0	3	4	7	0	0	1			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr15:77908223G>A	ENST00000355300.6	-	2	200	c.26C>T	c.(25-27)gCg>gTg	p.A9V	LINGO1_ENST00000561030.1_Missense_Mutation_p.A3V	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	9					negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						CACGCCCCCCGCCAGCATCCT	0.692													6	7					0	0	1	0	0	A	77908223	G	A	77908223	3	1	233	1	0	0	0	0	1	0	0	0	8855	1087	38	1	1840	1	LINGO1	15	77908223	Missense_Mutation	SNP	G	TCGA-J9-A52B-01A-11D-A26M-08		77908223	24623169	23	10733											
LYSMD4	145748	broad.mit.edu	37	chr15	100269696	100269696	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactgcacgctcaatatcctGgtcaatccccttaaagaagc	12	9	6	14	1	2	1	2	0	0	1	4	1	4	1	3	1	2	2	3	1	6	2			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr15:100269696G>A	ENST00000545021.1	-	4	959	c.145C>T	c.(145-147)Cag>Tag	p.Q49*	LYSMD4_ENST00000344791.2_Nonsense_Mutation_p.Q176*|LYSMD4_ENST00000604213.1_Intron|LYSMD4_ENST00000332728.4_Nonsense_Mutation_p.Q175*|LYSMD4_ENST00000409796.1_Nonsense_Mutation_p.Q175*			Q5XG99	LYSM4_HUMAN	LysM, putative peptidoglycan-binding, domain containing 4	175					cell wall macromolecule catabolic process	integral to membrane				breast(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)	10	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00162)|LUSC - Lung squamous cell carcinoma(107;0.17)|Lung(145;0.208)			TCAATATCCTGGTCAATCCCC	0.582													35	100					0	0	1	0	0	A	100269696	G	A	100269696	4	1	233	1	0	0	0	0	0	1	0	0	9173	1357	47	2	371	2	LYSMD4	15	100269696	Nonsense_Mutation	SNP	G	TCGA-J9-A52B-01A-11D-A26M-08	22361473	100269696	2261696	24	10734											
SRCAP	10847	broad.mit.edu	37	chr16	30744630	30744630	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agacgttggcagtgctgttgCggcagctcaaggcagagggc	8	7	17	9	2	1	2	1	0	0	2	1	2	1	2	0	4	3	7	0	4	1	2			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr16:30744630C>T	ENST00000262518.4	+	28	6542	c.6157C>T	c.(6157-6159)Cgg>Tgg	p.R2053W	SRCAP_ENST00000344771.4_Missense_Mutation_p.R1895W|SRCAP_ENST00000395059.2_Missense_Mutation_p.R1991W	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2053	Helicase C-terminal.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AGTGCTGTTGCGGCAGCTCAA	0.517													30	86					0	0	1	0	0	T	30744630	C	T	30744630	3	4	233	1	0	0	0	0	1	0	0	0	15191	759	27	1	6259	1	SRCAP	16	30744630	Missense_Mutation	SNP	C	TCGA-J9-A52B-01A-11D-A26M-08		30744630	59610123	25	10735											
TP53	7157	broad.mit.edu	37	chr17	7578548	7578569	+	Splice_Site	DEL	GGGAGTACTGTAGGAAGAGGAA	GGGAGTACTGTAGGAAGAGGAA	-																															aaacatcttgttgagggcagGggagtactgtaggaagagga																										TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr17:7578548_7578569delGGGAGTACTGTAGGAAGAGGAA	ENST00000420246.2	-	5	508_514	c.375_splice	c.e5-1	p.126_splice	TP53_ENST00000455263.2_Splice_Site_p.126_splice|TP53_ENST00000269305.4_Splice_Site_p.126_splice|TP53_ENST00000359597.4_Splice_Site_p.126_splice|TP53_ENST00000445888.2_Splice_Site_p.126_splice|TP53_ENST00000413465.2_Splice_Site_p.126_splice	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	126	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> G (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(81)|p.S127F(23)|p.Y126*(14)|p.Y126D(9)|p.S127Y(8)|p.0?(8)|p.S127C(7)|p.P128S(7)|p.S127T(6)|p.S127P(6)|p.Y126N(6)|p.Y126_K132delYSPALNK(6)|p.P128fs*42(5)|p.Y126C(4)|p.Y126_S127insQPHH(3)|p.Y126_N131delYSPALN(3)|p.A129fs*20(3)|p.Y33*(2)|p.Y33D(2)|p.S34C(2)|p.Y126fs*44(2)|p.Y126S(2)|p.Y126Y(1)|p.S127S(1)|p.S127_Q136del10(1)|p.T125_Y126insX(1)|p.V73fs*9(1)|p.S127fs*43(1)|p.S127fs*42(1)|p.P128del(1)|p.Y126fs*11(1)|p.S127fs*22(1)|p.S34F(1)|p.A36fs*20(1)|p.S34P(1)|p.P13fs*18(1)|p.Y126fs*18(1)|p.S127fs*36(1)|p.P128fs*18(1)|p.P128A(1)|p.Y33_S34insQPHH(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)		TTGAGGGCAGGGGAGTACTGTAGGAAGAGGAAGGAGACAGAG	0.559		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)			7	20	---	---	---	---						-	7578569	GGGAGTACTGTAGGAAGAGGAA	-	7578548	8	5	233	1	0	1	0	1	0	0	1	0	16442	1232	43	0	916	0	TP53	17	7578548	Splice_Site	DEL	GGGAGTACTGTAGGAAGAGGAA	TCGA-J9-A52B-01A-11D-A26M-08		7578548	73616662	26	10736											
CHD3	1107	broad.mit.edu	37	chr17	7811746	7811746	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acacactgtggcagaatgagGaacgggcagctatttcctcg	11	8	12	10	2	0	2	0	1	0	1	2	3	1	3	1	3	2	3	1	3	3	2			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr17:7811746G>T	ENST00000380358.4	+	35	5357	c.5356G>T	c.(5356-5358)Gaa>Taa	p.E1786*	CHD3_ENST00000358181.4_Nonsense_Mutation_p.E1693*|CHD3_ENST00000330494.7_Nonsense_Mutation_p.E1727*	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1727	Required for interaction with PCNT.				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|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GCAGAATGAGGAACGGGCAGC	0.488													4	8					0.00448238	0.0047314	1	1	0	T	7811746	G	T	7811746	4	4	233	1	0	0	0	0	0	1	0	0	3348	1175	41	4	5598	4	CHD3	17	7811746	Nonsense_Mutation	SNP	G	TCGA-J9-A52B-01A-11D-A26M-08	233198	7811746	73383464	27	10737											
MYH10	4628	broad.mit.edu	37	chr17	8480573	8480573	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggaatattatggtcctttCttcctttatgtgaagaagca	11	15	8	7	0	1	2	0	1	1	1	3	3	3	3	2	2	1	1	2	2	6	6			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr17:8480573C>T	ENST00000360416.3	-	5	752	c.614G>A	c.(613-615)aGa>aAa	p.R205K	MYH10_ENST00000269243.4_Missense_Mutation_p.R205K|MYH10_ENST00000396239.1_Missense_Mutation_p.R205K|MYH10_ENST00000379980.4_Missense_Mutation_p.R205K	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	205	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						ATGGTCCTTTCTTCCTTTATG	0.353													30	23					0	0	1	0	0	T	8480573	C	T	8480573	3	4	233	1	0	0	0	0	1	0	0	0	10078	913	32	2	5464	2	MYH10	17	8480573	Missense_Mutation	SNP	C	TCGA-J9-A52B-01A-11D-A26M-08	668827	8480573	72714637	28	10738											
TNFRSF13B	23495	broad.mit.edu	37	chr17	16843654	16843654	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	actcaccctgggaagacttgGccggactttgacggggcctt	7	9	13	12	2	1	2	1	1	0	1	1	4	1	4	3	5	0	0	3	5	1	3			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr17:16843654G>A	ENST00000437538.2	-	3	487	c.479C>T	c.(478-480)gCc>gTc	p.A160V	TNFRSF13B_ENST00000579315.1_Intron|TNFRSF13B_ENST00000583789.1_Missense_Mutation_p.A160V|TNFRSF13B_ENST00000261652.2_Missense_Mutation_p.A206V			O14836	TR13B_HUMAN	tumor necrosis factor receptor superfamily, member 13B	206					cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						GGAAGACTTGGCCGGACTTTG	0.657									IgA Deficiency, Selective				57	106					0	0	1	0	0	A	16843654	G	A	16843654	3	1	233	1	0	0	0	0	1	0	0	0	16347	1203	42	2	272	2	TNFRSF13B	17	16843654	Missense_Mutation	SNP	G	TCGA-J9-A52B-01A-11D-A26M-08	8363081	16843654	64351556	29	10739											
FAM83G	644815	broad.mit.edu	37	chr17	18875037	18875037	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctagtccctgaggcagggaCcctgtgatgatgaaactgct	9	9	12	11	0	0	4	0	4	0	0	1	5	1	5	3	2	2	2	3	2	2	1			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr17:18875037C>A	ENST00000388995.6	-	6	2330	c.2107G>T	c.(2107-2109)Gtc>Ttc	p.V703F	SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395645.3_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.V703F|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395647.2_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.V703F|SLC5A10_ENST00000395642.1_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	703										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						GAGGCAGGGACCCTGTGATGA	0.622													27	53					1.74807e-11	1.9928e-11	1	1	0	A	18875037	C	A	18875037	3	1	233	1	0	0	0	0	1	0	0	0	5671	507	18	4	368	4	FAM83G	17	18875037	Missense_Mutation	SNP	C	TCGA-J9-A52B-01A-11D-A26M-08	2031383	18875037	62320173	30	10740											
PLIN3	10226	broad.mit.edu	37	chr19	4852140	4852141	+	Frame_Shift_Del	DEL	TT	TT	-																															aagcgggagcccatgaccgaTtggacgccgccggtcactac																										TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr19:4852140_4852141delTT	ENST00000221957.4	-	5	697_698	c.521_522delAA	c.(520-522)cfs	p.Q174fs	PLIN3_ENST00000592528.1_Frame_Shift_Del_p.Q162fs|PLIN3_ENST00000585479.1_Frame_Shift_Del_p.Q174fs	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN	perilipin 3	174					vesicle-mediated transport	endosome membrane|Golgi apparatus|lipid particle	protein binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	CCATGACCGATTGGACGCCGCC	0.663											OREG0025175	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	45	---	---	---	---						-	4852141	TT	-	4852140	7	5	233	1	0	1	0	1	0	0	0	0	12139	1490	52	0	798	0	PLIN3	19	4852140	Frame_Shift_Del	DEL	TT	TCGA-J9-A52B-01A-11D-A26M-08		4852140	54276843	31	10741											
MAST1	22983	broad.mit.edu	37	chr19	12954360	12954360	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagggcggacggacgccggtGgtctctggcctcgctccctt	3	8	15	15	5	1	0	0	0	1	0	4	2	2	2	3	6	0	1	3	6	0	1			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr19:12954360G>C	ENST00000251472.4	+	4	305	c.266G>C	c.(265-267)tGg>tCg	p.W89S	MAST1_ENST00000591495.1_Missense_Mutation_p.W85S	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	89					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						GGACGCCGGTGGTCTCTGGCC	0.657													46	67					0	0	1	0	0	C	12954360	G	C	12954360	3	2	233	1	0	0	0	0	1	0	0	0	9374	1357	47	4	280	4	MAST1	19	12954360	Missense_Mutation	SNP	G	TCGA-J9-A52B-01A-11D-A26M-08	8102220	12954360	46174623	32	10742											
DLL3	10683	broad.mit.edu	37	chr19	39995920	39995920	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcgtgggttctacgggctgCggtgtgaggtgagcggggtg	3	9	22	7	5	1	2	0	2	1	0	1	2	1	2	0	6	3	2	0	6	1	2			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr19:39995920C>T	ENST00000205143.4	+	6	929	c.922C>T	c.(922-924)Cgg>Tgg	p.R308W	DLL3_ENST00000356433.5_Missense_Mutation_p.R308W	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	delta-like 3 (Drosophila)	308	EGF-like 2.				Notch signaling pathway|skeletal system development	integral to membrane	Notch binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CTACGGGCTGCGGTGTGAGGT	0.587													65	94					0	0	1	0	0	T	39995920	C	T	39995920	3	4	233	1	0	0	0	0	1	0	0	0	4595	759	27	1	944	1	DLL3	19	39995920	Missense_Mutation	SNP	C	TCGA-J9-A52B-01A-11D-A26M-08	27041560	39995920	19133063	33	10743											
ATF4	468	broad.mit.edu	37	chr22	39917951	39917951	+	Frame_Shift_Del	DEL	C	C	-																															tccaggagactaataagcagCccccccagacggtgaaccca																										TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr22:39917951delC	ENST00000337304.2	+	2	1282	c.400delC	c.(400-402)ccfs	p.P135fs	ATF4_ENST00000396680.1_Frame_Shift_Del_p.P135fs|ATF4_ENST00000404241.2_Frame_Shift_Del_p.P135fs	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	135					cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)					TAATAAGCAGCCCCCCCAGAC	0.527													80	264	---	---	---	---						-	39917951	C	-	39917951	7	5	233	1	0	1	0	1	0	0	0	0	1081	739	26	0	406	0	ATF4	22	39917951	Frame_Shift_Del	DEL	C	TCGA-J9-A52B-01A-11D-A26M-08		39917951	11386615	34	10744											
TCF20	6942	broad.mit.edu	37	chr22	42608481	42608481	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtggtctccagatttcttgTtgttgaaactagcttgagat	9	16	10	6	0	2	3	0	2	2	2	3	4	2	3	1	1	2	3	1	1	2	6			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chr22:42608481T>A	ENST00000359486.3	-	1	2967	c.2831A>T	c.(2830-2832)aAc>aTc	p.N944I	TCF20_ENST00000335626.4_Missense_Mutation_p.N944I	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	944					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						AGATTTCTTGTTGTTGAAACT	0.493													24	83					0	0	1	0	0	A	42608481	T	A	42608481	3	1	233	1	0	0	0	0	1	0	0	0	15750	1725	60	5	3089	5	TCF20	22	42608481	Missense_Mutation	SNP	T	TCGA-J9-A52B-01A-11D-A26M-08	2690530	42608481	8696085	35	10745											
DCAF12L1	139170	broad.mit.edu	37	chrX	125685925	125685925	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtcatcgaacttgtccgggtCcatccgccacagcgccacag	8	7	10	16	4	1	0	1	0	0	0	5	1	4	0	5	1	2	0	5	1	1	1			TCGA-J9-A52B-01A-11D-A26M-08	TCGA-J9-A52B-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97303517-3824-482e-b245-cd3da03be6f1	6660b8f2-95ae-4689-a6e0-ed2edba45ccf	g.chrX:125685925C>G	ENST00000371126.1	-	1	909	c.667G>C	c.(667-669)Gac>Cac	p.D223H		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	223										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						TTGTCCGGGTCCATCCGCCAC	0.657													6	40					0	0	1	0	0	G	125685925	C	G	125685925	3	3	233	1	0	0	0	0	1	0	0	0	4288	855	30	4	728	4	DCAF12L1	23	125685925	Missense_Mutation	SNP	C	TCGA-J9-A52B-01A-11D-A26M-08		125685925	29584635	36	10746											
SAMD11	148398	broad.mit.edu	37	chr1	878744	878745	+	Frame_Shift_Del	DEL	GA	GA	-																															ggggggcctgtctggctgtgGagagtacactcgggtaaggg																								rs72902602	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:878744_878745delGA	ENST00000342066.3	+	12	1759_1760	c.1676_1677delGA	c.(1675-1677)gfs	p.G559fs		NM_152486.2	NP_689699.2	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	559	SAM.					nucleus				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		TCTGGCTGTGGAGAGTACACTC	0.658													15	63	---	---	---	---						-	878745	GA	-	878744	7	5	234	1	0	1	0	1	0	0	0	0	13868	1174	41	0	1718	0	SAMD11	1	878744	Frame_Shift_Del	DEL	GA	TCGA-J9-A52C-01A-11D-A26M-08		878744	248371877	1	10747											
AGRN	375790	broad.mit.edu	37	chr1	986959	986959	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcaatggggcctcctgcGtcccgagggaggctgcctat	5	8	14	14	2	1	0	1	0	0	0	3	2	3	1	5	4	2	1	5	4	2	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:986959G>A	ENST00000379370.2	+	32	5547	c.5497G>A	c.(5497-5499)Gtc>Atc	p.V1833I		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1833	EGF-like 4.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GGCCTCCTGCGTCCCGAGGGA	0.706													3	10					0	0	1	0	0	A	986959	G	A	986959	3	1	234	1	0	0	0	0	1	0	0	0	394	1145	40	1	5623	1	AGRN	1	986959	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	108215	986959	248263662	2	10748											
PRKCZ	5590	broad.mit.edu	37	chr1	2105390	2105390	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	catgtttgagatgatggccgGgcgctccccgttcgacatca	7	10	12	12	4	1	2	1	2	0	1	3	4	2	2	3	2	0	3	3	2	0	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:2105390G>T	ENST00000400921.2	+	11	1474	c.791G>T	c.(790-792)gGg>gTg	p.G264V	PRKCZ_ENST00000400920.1_Missense_Mutation_p.G264V|PRKCZ_ENST00000479263.1_3'UTR	NM_001033581.1	NP_001028753.1	Q05513	KPCZ_HUMAN	protein kinase C, zeta	447	Protein kinase.				anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation	endosome	ATP binding|protein kinase C activity|zinc ion binding			breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)		ATGATGGCCGGGCGCTCCCCG	0.627											OREG0013007	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	91					5.35356e-11	5.505e-11	1	1	0	T	2105390	G	T	2105390	3	4	234	1	0	0	0	0	1	0	0	0	12569	1232	43	4	1394	4	PRKCZ	1	2105390	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1118431	2105390	247145231	3	10749											
C1orf174	339448	broad.mit.edu	37	chr1	3806546	3806546	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatttctgcatcatcgtcgTcgtcatcatcatcatctttg	8	16	5	12	3	7	0	5	0	2	0	10	0	7	0	0	0	1	1	0	0	0	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:3806546T>C	ENST00000361605.3	-	4	808	c.710A>G	c.(709-711)gAc>gGc	p.D237G	C1orf174_ENST00000486765.1_5'UTR	NM_207356.2	NP_997239.2	Q8IYL3	CA174_HUMAN	chromosome 1 open reading frame 174	237	Poly-Asp.									endometrium(1)|large_intestine(5)|lung(4)|prostate(1)	11	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;5.09e-25)|all_epithelial(116;9.35e-17)|all_lung(118;1.09e-06)|Lung NSC(185;0.000139)|all_neural(13;0.00287)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0219)|all_hematologic(16;0.027)|Colorectal(325;0.0276)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;1.55e-39)|OV - Ovarian serous cystadenocarcinoma(86;5.99e-23)|GBM - Glioblastoma multiforme(42;2.22e-17)|Colorectal(212;1.08e-05)|COAD - Colon adenocarcinoma(227;5.49e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000365)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.19)		atcatcgtcgtcgtcatcatc	0.388													7	30					0	0	1	0	0	C	3806546	T	C	3806546	3	2	234	1	0	0	0	0	1	0	0	0	2028	1667	58	3	25	3	C1orf174	1	3806546	Missense_Mutation	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	1701156	3806546	245444075	4	10750											
THAP3	90326	broad.mit.edu	37	chr1	6688564	6688564	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctctgcccttaggtttcCgttcagccgcccggagctgc	3	11	11	16	3	2	0	1	0	1	0	3	1	3	1	5	2	5	3	5	2	1	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:6688564C>T	ENST00000377627.3	+	2	107	c.80C>T	c.(79-81)cCg>cTg	p.P27L	THAP3_ENST00000484676.1_3'UTR|THAP3_ENST00000054650.4_Missense_Mutation_p.P27L|THAP3_ENST00000307896.6_Missense_Mutation_p.P27L	NM_138350.3	NP_612359.2	Q8WTV1	THAP3_HUMAN	THAP domain containing, apoptosis associated protein 3	27							DNA binding|metal ion binding			breast(1)|cervix(1)|large_intestine(1)|prostate(1)	4	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		CTTAGGTTTCCGTTCAGCCGC	0.597													3	19					0	0	1	0	0	T	6688564	C	T	6688564	3	4	234	1	0	0	0	0	1	0	0	0	15905	652	23	1	86	1	THAP3	1	6688564	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	2882018	6688564	242562057	5	10751											
TMEM201	199953	broad.mit.edu	37	chr1	9662288	9662288	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggcttcacggcggctgtggCcacaaggaaggcaacgggcc	8	5	16	12	3	1	0	1	0	0	0	1	1	1	1	2	7	1	3	2	7	3	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:9662288C>T	ENST00000340305.5	+	6	1127	c.1118C>T	c.(1117-1119)gCc>gTc	p.A373V	TMEM201_ENST00000377376.4_Missense_Mutation_p.A373V|TMEM201_ENST00000340381.6_Missense_Mutation_p.A373V	NM_001010866.3	NP_001010866.1	Q5SNT2	TM201_HUMAN	transmembrane protein 201	373						integral to membrane|nuclear inner membrane				lung(3)|upper_aerodigestive_tract(1)	4	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		GCGGCTGTGGCCACAAGGAAG	0.647													5	34					0	0	1	0	0	T	9662288	C	T	9662288	3	4	234	1	0	0	0	0	1	0	0	0	16186	739	26	2	1140	2	TMEM201	1	9662288	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	2973724	9662288	239588333	6	10752											
AADACL4	343066	broad.mit.edu	37	chr1	12704657	12704657	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgagcacttcctcaccaCggatatccctgctaccttgc	7	12	6	16	1	1	1	1	1	0	0	3	2	3	2	4	1	4	2	4	1	2	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:12704657C>T	ENST00000376221.1	+	1	92	c.92C>T	c.(91-93)aCg>aTg	p.T31M		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	31						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		TTCCTCACCACGGATATCCCT	0.527													19	107					0	0	1	0	0	T	12704657	C	T	12704657	3	4	234	1	0	0	0	0	1	0	0	0	13	536	19	1	94	1	AADACL4	1	12704657	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	3042369	12704657	236545964	7	10753											
ZBTB17	7709	broad.mit.edu	37	chr1	16270144	16270144	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgccggggtctgcaaactgtCgctggcagtggatgcacacg	7	7	15	12	4	1	0	0	0	1	0	2	1	1	1	1	4	3	4	1	4	1	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:16270144C>T	ENST00000375733.2	-	11	1764	c.1526G>A	c.(1525-1527)cGa>cAa	p.R509Q	ZBTB17_ENST00000537142.1_Missense_Mutation_p.R427Q|ZBTB17_ENST00000375743.4_Missense_Mutation_p.R509Q			Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	509					negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		TGCAAACTGTCGCTGGCAGTG	0.672													11	46					0	0	1	0	0	T	16270144	C	T	16270144	3	4	234	1	0	0	0	0	1	0	0	0	17586	884	31	1	909	1	ZBTB17	1	16270144	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	3565487	16270144	232980477	8	10754											
CLCNKB	1188	broad.mit.edu	37	chr1	16378897	16378897	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgccacggattctgggccGcaacatcgggtgagtggtgc	6	8	15	12	3	1	1	0	1	1	0	2	2	1	2	3	4	3	1	3	4	1	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:16378897G>A	ENST00000375679.4	+	15	1724	c.1613G>A	c.(1612-1614)cGc>cAc	p.R538H	CLCNKB_ENST00000375667.3_Missense_Mutation_p.R369H	NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		ATTCTGGGCCGCAACATCGGG	0.597													8	46					0	0	1	0	0	A	16378897	G	A	16378897	3	1	234	1	0	0	0	0	1	0	0	0	3493	1087	38	1	1815	1	CLCNKB	1	16378897	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	108753	16378897	232871724	9	10755											
ARHGEF19	128272	broad.mit.edu	37	chr1	16532526	16532526	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccagcaccacgtcgcacaCgctgaagcgcagcacatctg	10	5	10	16	4	1	1	0	1	1	0	3	1	2	1	2	0	3	5	2	0	1	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:16532526C>T	ENST00000270747.3	-	8	1487	c.1351G>A	c.(1351-1353)Gtg>Atg	p.V451M	ARHGEF19_ENST00000478117.1_5'UTR|ARHGEF19_ENST00000421561.1_Missense_Mutation_p.V451M	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	451	DH.				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		ACGTCGCACACGCTGAAGCGC	0.647													4	3					0	0	1	0	0	T	16532526	C	T	16532526	3	4	234	1	0	0	0	0	1	0	0	0	899	536	19	1	1093	1	ARHGEF19	1	16532526	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	153629	16532526	232718095	10	10756											
ARHGEF19	128272	broad.mit.edu	37	chr1	16534702	16534702	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cggggacctcttcacgctggTacacccgcatcttgcgccct	5	9	10	17	4	3	0	1	0	2	0	3	1	3	1	3	3	2	3	3	3	1	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:16534702T>C	ENST00000270747.3	-	3	567	c.431A>G	c.(430-432)tAc>tGc	p.Y144C	ARHGEF19_ENST00000421561.1_Missense_Mutation_p.Y144C	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	144					regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		TTCACGCTGGTACACCCGCAT	0.682													6	36					0	0	1	0	0	C	16534702	T	C	16534702	3	2	234	1	0	0	0	0	1	0	0	0	899	1638	57	3	2033	3	ARHGEF19	1	16534702	Missense_Mutation	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	2176	16534702	232715919	11	10757											
PADI2	11240	broad.mit.edu	37	chr1	17418973	17418973	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaactatctcgtatccggcGgggaggcggtcggggccttt	6	9	16	10	5	1	1	0	0	1	1	4	2	2	2	2	7	1	1	2	7	3	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:17418973G>A	ENST00000375486.4	-	6	648	c.585C>T	c.(583-585)ccC>ccT	p.P195P	PADI2_ENST00000444885.2_Intron|PADI2_ENST00000375481.1_Silent_p.P195P	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	195					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	p.P195Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	CGTATCCGGCGGGGAGGCGGT	0.537													9	44					0	0	1	0	0	A	17418973	G	A	17418973	2	1	234	1	0	0	0	0	0	0	0	1	11425	1103	39	1		1	PADI2	1	17418973	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	884271	17418973	231831648	12	10758											
KLHDC7A	127707	broad.mit.edu	37	chr1	18809307	18809307	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttacgacccccgcctggaccGctgggactttgccccgccgc	4	7	11	19	5	0	0	0	0	0	0	0	3	0	2	7	2	2	1	7	2	1	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:18809307G>T	ENST00000400664.1	+	1	1884	c.1832G>T	c.(1831-1833)cGc>cTc	p.R611L		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	611						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CGCCTGGACCGCTGGGACTTT	0.706													3	27					1	1	1	1	0	T	18809307	G	T	18809307	3	4	234	1	0	0	0	0	1	0	0	0	8403	1087	38	4	1834	4	KLHDC7A	1	18809307	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1390334	18809307	230441314	13	10759											
HTR6	3362	broad.mit.edu	37	chr1	20005830	20005830	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccgcggagcccgagctgcGgccgcatccacttggcatcc	5	5	12	19	5	0	0	0	0	0	0	2	2	2	1	6	3	3	3	6	3	0	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:20005830G>A	ENST00000289753.1	+	3	1759	c.1292G>A	c.(1291-1293)cGg>cAg	p.R431Q		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	431					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	CCCGAGCTGCGGCCGCATCCA	0.682													3	12					0	0	1	0	0	A	20005830	G	A	20005830	3	1	234	1	0	0	0	0	1	0	0	0	7495	1116	39	1	1302	1	HTR6	1	20005830	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1196523	20005830	229244791	14	10760											
TMCO4	255104	broad.mit.edu	37	chr1	20021006	20021006	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggcgacacggagctgcaccGaggatgtgcggtacacgaaa	11	4	15	11	6	0	0	0	0	0	0	0	5	0	2	1	4	4	3	1	4	2	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:20021006G>A	ENST00000294543.6	-	15	1662	c.1421C>T	c.(1420-1422)tCg>tTg	p.S474L	TMCO4_ENST00000375122.2_Missense_Mutation_p.S434L|TMCO4_ENST00000489814.1_5'UTR|TMCO4_ENST00000375127.1_Missense_Mutation_p.S474L	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	474						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		GAGCTGCACCGAGGATGTGCG	0.617													30	120					0	0	1	0	0	A	20021006	G	A	20021006	3	1	234	1	0	0	0	0	1	0	0	0	16058	1059	37	1	491	1	TMCO4	1	20021006	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	15176	20021006	229229615	15	10761											
ALPL	249	broad.mit.edu	37	chr1	21903985	21903985	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggcgcacctgctgcacggCgtccacgagcagaactacgt	9	6	12	14	5	0	1	0	0	0	1	1	2	1	1	2	2	5	4	2	2	2	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:21903985C>T	ENST00000374840.3	+	12	1669	c.1419C>T	c.(1417-1419)ggC>ggT	p.G473G	ALPL_ENST00000374829.1_Silent_p.G119G|ALPL_ENST00000374832.1_Silent_p.G473G|ALPL_ENST00000540617.1_Silent_p.G418G|ALPL_ENST00000425315.2_Silent_p.G473G|ALPL_ENST00000539907.1_Silent_p.G396G|ALPL_ENST00000374830.1_Silent_p.G119G	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	473			G -> S (in HOPS).		response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	TGCTGCACGGCGTCCACGAGC	0.687													10	63					0	0	1	0	0	T	21903985	C	T	21903985	2	4	234	1	0	0	0	0	0	0	0	1	543	755	27	1		1	ALPL	1	21903985	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	1882979	21903985	227346636	16	10762											
HSPG2	3339	broad.mit.edu	37	chr1	22172692	22172692	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcccatcacccggcacacGtattcacccgagtcggccgg	7	6	10	18	5	2	0	2	0	0	0	3	1	2	0	4	3	1	2	4	3	1	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:22172692G>A	ENST00000374695.3	-	64	8452	c.8373C>T	c.(8371-8373)taC>taT	p.Y2791Y		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2791	Ig-like C2-type 13.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CCCGGCACACGTATTCACCCG	0.652													9	45					0	0	1	0	0	A	22172692	G	A	22172692	2	1	234	1	0	0	0	0	0	0	0	1	7474	1140	40	1		1	HSPG2	1	22172692	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	268707	22172692	227077929	17	10763											
EPHB2	2048	broad.mit.edu	37	chr1	23219480	23219480	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtcttccaggtgcgggcacGcaccgtggcaggttacgggc	5	8	16	12	4	1	0	0	0	1	0	2	0	2	0	2	5	2	4	2	5	1	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:23219480G>A	ENST00000400191.3	+	7	1550	c.1532G>A	c.(1531-1533)cGc>cAc	p.R511H	EPHB2_ENST00000374632.3_Missense_Mutation_p.R511H|EPHB2_ENST00000374627.1_Missense_Mutation_p.R506H|EPHB2_ENST00000374630.3_Missense_Mutation_p.R511H|EPHB2_ENST00000465676.1_3'UTR	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	511	Fibronectin type-III 2.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GTGCGGGCACGCACCGTGGCA	0.602													9	81					0	0	1	0	0	A	23219480	G	A	23219480	3	1	234	1	0	0	0	0	1	0	0	0	5203	1087	38	1	1558	1	EPHB2	1	23219480	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1046788	23219480	226031141	18	10764											
TCEA3	6920	broad.mit.edu	37	chr1	23720487	23720487	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcggctgcgcacgcggttcCggtacttcatgtccgtgctc	3	11	13	14	6	1	0	1	0	0	0	4	0	3	0	2	3	4	5	2	3	1	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:23720487C>T	ENST00000450454.2	-	8	810	c.704G>A	c.(703-705)cGg>cAg	p.R235Q		NM_003196.1	NP_003187.1	O75764	TCEA3_HUMAN	transcription elongation factor A (SII), 3	235	TFIIS central.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	nucleus	DNA binding|translation elongation factor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198)		CACGCGGTTCCGGTACTTCAT	0.627													6	42					0	0	1	0	0	T	23720487	C	T	23720487	3	4	234	1	0	0	0	0	1	0	0	0	15729	652	23	1	358	1	TCEA3	1	23720487	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	501007	23720487	225530134	19	10765											
TCEB3	6924	broad.mit.edu	37	chr1	24080607	24080609	+	In_Frame_Del	DEL	GAA	GAA	-																															tagcgttctcttcaccccagGaagaagaagaagctggattt																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:24080607_24080609delGAA	ENST00000418390.2	+	6	1904_1906	c.1633_1635delGAA	c.(1633-1635)del	p.E548del		NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	548	Activation domain (By similarity).				positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		TTCACCCCAGGAAGAAGAAGAAG	0.473													9	57	---	---	---	---						-	24080609	GAA	-	24080607	7	5	234	1	0	1	0	1	0	0	0	0	15741	1175	41	0	1655	0	TCEB3	1	24080607	In_Frame_Del	DEL	GAA	TCGA-J9-A52C-01A-11D-A26M-08	360120	24080607	225170014	20	10766											
EXTL1	2134	broad.mit.edu	37	chr1	26359747	26359747	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgcttctacccatatagcAccatcagaacagatgccatc	13	9	5	14	1	2	2	1	0	1	2	4	2	2	2	3	0	4	2	3	0	4	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:26359747A>G	ENST00000374280.3	+	8	2326	c.1459A>G	c.(1459-1461)Acc>Gcc	p.T487A		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	487					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		CCCATATAGCACCATCAGAAC	0.567													5	51					0	0	1	0	0	G	26359747	A	G	26359747	3	3	234	1	0	0	0	0	1	0	0	0	5353	159	6	3	1489	3	EXTL1	1	26359747	Missense_Mutation	SNP	A	TCGA-J9-A52C-01A-11D-A26M-08	2279140	26359747	222890874	21	10767											
GPN2	54707	broad.mit.edu	37	chr1	27216198	27216198	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgaggtcccactgcgccatTtgggagaagatgctgcgcaa	9	8	13	11	2	0	3	0	1	0	2	1	4	1	3	2	2	3	2	2	2	2	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:27216198T>C	ENST00000374135.4	-	1	590	c.390A>G	c.(388-390)caA>caG	p.Q130Q		NM_018066.3	NP_060536.3	Q9H9Y4	GPN2_HUMAN	GPN-loop GTPase 2	130							GTP binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						ACTGCGCCATTTGGGAGAAGA	0.647													16	78					0	0	1	0	0	C	27216198	T	C	27216198	2	2	234	1	0	0	0	0	0	0	0	1	6658	1838	64	3		3	GPN2	1	27216198	Silent	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	856451	27216198	222034423	22	10768											
PTPRU	10076	broad.mit.edu	37	chr1	29585178	29585178	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctgggcgtctacgtgcgcGttaatgggggccccctgggc	3	8	16	14	4	1	0	0	0	1	0	1	0	1	0	3	4	2	1	3	4	2	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:29585178G>A	ENST00000373779.3	+	3	496	c.367G>A	c.(367-369)Gtt>Att	p.V123I	PTPRU_ENST00000428026.2_Missense_Mutation_p.V123I|PTPRU_ENST00000356870.3_Missense_Mutation_p.V123I|PTPRU_ENST00000345512.3_Missense_Mutation_p.V123I|PTPRU_ENST00000323874.8_Missense_Mutation_p.V123I|PTPRU_ENST00000460170.2_Missense_Mutation_p.V123I	NM_001195001.1|NM_133178.3	NP_001181930.1|NP_573439.2	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	123	MAM.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CTACGTGCGCGTTAATGGGGG	0.627													18	124					0	0	1	0	0	A	29585178	G	A	29585178	3	1	234	1	0	0	0	0	1	0	0	0	12865	1145	40	1	377	1	PTPRU	1	29585178	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	2368980	29585178	219665443	23	10769											
SERINC2	347735	broad.mit.edu	37	chr1	31906941	31906941	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccggaagatgatcagcacGtggaccgccgtgtgggtgaa	10	6	15	10	4	1	3	1	2	0	1	1	5	1	5	3	3	1	1	3	3	2	0	rs11554767	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:31906941G>A	ENST00000373710.1	+	11	1563	c.1290G>A	c.(1288-1290)acG>acA	p.T430T	SERINC2_ENST00000491976.1_3'UTR|SERINC2_ENST00000536859.1_Silent_p.T425T|SERINC2_ENST00000536384.1_Silent_p.T425T|SERINC2_ENST00000373709.3_Silent_p.T421T	NM_001199038.1	NP_001185967.1	Q96SA4	SERC2_HUMAN	serine incorporator 2	422						integral to membrane				cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		TGATCAGCACGTGGACCGCCG	0.627													28	155					0	0	1	0	0	A	31906941	G	A	31906941	2	1	234	1	0	0	0	0	0	0	0	1	14134	1132	40	1		1	SERINC2	1	31906941	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	2321763	31906941	217343680	24	10770											
CSMD2	114784	broad.mit.edu	37	chr1	33992853	33992853	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgggtctcccactgggccGgacctctgctggggaaaaag	8	7	15	11	1	2	0	0	0	2	0	3	3	2	2	3	5	1	1	3	5	2	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:33992853G>A	ENST00000373381.4	-	65	10353	c.10177C>T	c.(10177-10179)Cgg>Tgg	p.R3393W		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3249						integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCACTGGGCCGGACCTCTGCT	0.517													9	38					0	0	1	0	0	A	33992853	G	A	33992853	3	1	234	1	0	0	0	0	1	0	0	0	3970	1115	39	1	742	1	CSMD2	1	33992853	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	2085912	33992853	215257768	25	10771											
STK40	83931	broad.mit.edu	37	chr1	36824360	36824360	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagctgatagaagtcatccGtgccatctttcctcgccaaa	10	11	7	13	2	3	2	2	1	1	1	6	2	5	2	4	0	2	1	4	0	3	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:36824360G>A	ENST00000359297.2	-	2	183	c.176C>T	c.(175-177)aCg>aTg	p.T59M	STK40_ENST00000482458.1_5'UTR|STK40_ENST00000373129.3_Missense_Mutation_p.T59M|STK40_ENST00000373130.3_Missense_Mutation_p.T64M|STK40_ENST00000373132.3_Missense_Mutation_p.T59M			Q8N2I9	STK40_HUMAN	serine/threonine kinase 40	59	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)	13		Myeloproliferative disorder(586;0.0393)				GAAGTCATCCGTGCCATCTTT	0.567													8	36					0	0	1	0	0	A	36824360	G	A	36824360	3	1	234	1	0	0	0	0	1	0	0	0	15363	1145	40	1	1167	1	STK40	1	36824360	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	2831507	36824360	212426261	26	10772											
MTF1	4520	broad.mit.edu	37	chr1	38305823	38305823	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcaaaggtacattggtacCgctttacctggcagagaaaa	13	9	9	10	1	1	1	1	0	0	1	1	2	1	1	3	3	3	4	3	3	6	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:38305823C>T	ENST00000373036.4	-	3	556	c.416G>A	c.(415-417)cGg>cAg	p.R139Q		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	139						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				ACATTGGTACCGCTTTACCTG	0.547													15	46					0	0	1	0	0	T	38305823	C	T	38305823	3	4	234	1	0	0	0	0	1	0	0	0	9970	652	23	1	1881	1	MTF1	1	38305823	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	1481463	38305823	210944798	27	10773											
UTP11L	51118	broad.mit.edu	37	chr1	38484964	38484964	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aactcacctgcaaacagcccCggagctagtcgacagagtct	12	6	9	14	2	2	1	1	0	1	1	3	3	2	2	3	1	5	2	3	1	3	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:38484964C>T	ENST00000373014.4	+	6	537	c.476C>T	c.(475-477)cCg>cTg	p.P159L	UTP11L_ENST00000537711.1_Intron|UTP11L_ENST00000488453.1_3'UTR	NM_016037.3	NP_057121.2	Q9Y3A2	UTP11_HUMAN	UTP11-like, U3 small nucleolar ribonucleoprotein, (yeast)	159					induction of apoptosis|nerve growth factor receptor signaling pathway|nervous system development|rRNA processing	cytoplasm|extracellular space|nucleolus|small-subunit processome	protein binding			NS(1)|cervix(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CAAACAGCCCCGGAGCTAGTC	0.433													8	70					0	0	1	0	0	T	38484964	C	T	38484964	3	4	234	1	0	0	0	0	1	0	0	0	17154	652	23	1	498	1	UTP11L	1	38484964	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	179141	38484964	210765657	28	10774											
TRIT1	54802	broad.mit.edu	37	chr1	40319624	40319624	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccatttcctcagtgagttaCgagtgaactaaacttacctt	11	14	6	10	1	1	2	1	2	0	0	3	3	3	2	3	0	4	1	3	0	5	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:40319624C>T	ENST00000544981.1	-	3	444	c.432G>A	c.(430-432)tcG>tcA	p.S144S	TRIT1_ENST00000372818.1_Intron|TRIT1_ENST00000537440.1_Intron|TRIT1_ENST00000541099.1_Intron|TRIT1_ENST00000537223.1_Intron|TRIT1_ENST00000441669.2_Intron|TRIT1_ENST00000545233.1_Intron|TRIT1_ENST00000316891.5_Intron|TRIT1_ENST00000491865.1_Intron			Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	0					tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CAGTGAGTTACGAGTGAACTA	0.388													5	17					0	0	1	0	0	T	40319624	C	T	40319624	2	4	234	1	0	0	0	0	0	0	0	1	16621	551	19	1		1	TRIT1	1	40319624	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	1834660	40319624	208930997	29	10775											
MFSD2A	84879	broad.mit.edu	37	chr1	40433346	40433346	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggcagtggttcttgacccGgtttggcaagaagacagctg	8	10	14	9	1	1	3	0	1	1	2	1	3	1	3	1	4	1	5	1	4	2	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:40433346G>A	ENST00000372809.5	+	10	1240	c.1097G>A	c.(1096-1098)cGg>cAg	p.R366Q	MFSD2A_ENST00000420632.2_Missense_Mutation_p.R197Q|MFSD2A_ENST00000480630.1_3'UTR|MFSD2A_ENST00000372811.5_Missense_Mutation_p.R353Q	NM_001136493.1	NP_001129965.1	Q8NA29	MFS2A_HUMAN	major facilitator superfamily domain containing 2A	366					transmembrane transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						TTCTTGACCCGGTTTGGCAAG	0.542													13	63					0	0	1	0	0	A	40433346	G	A	40433346	3	1	234	1	0	0	0	0	1	0	0	0	9580	1116	39	1	1135	1	MFSD2A	1	40433346	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	113722	40433346	208817275	30	10776											
RLF	6018	broad.mit.edu	37	chr1	40705391	40705391	+	Frame_Shift_Del	DEL	A	A	-																															tgctctacaggggaactttgAaatgtaatcatagttccaaa																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:40705391delA	ENST00000372771.4	+	8	5044	c.5017delA	c.(5017-5019)aafs	p.K1673fs		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1673					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			GGGAACTTTGAAATGTAATCA	0.408													9	59	---	---	---	---						-	40705391	A	-	40705391	7	5	234	1	0	1	0	1	0	0	0	0	13441	247	9	0	5047	0	RLF	1	40705391	Frame_Shift_Del	DEL	A	TCGA-J9-A52C-01A-11D-A26M-08	272045	40705391	208545230	31	10777											
HIVEP3	59269	broad.mit.edu	37	chr1	42045766	42045766	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgacagaggcagagagctcGgaggtgccaaggaggggaga	12	3	19	7	1	0	4	0	1	0	3	1	8	0	6	1	6	2	2	1	6	1	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:42045766G>A	ENST00000372584.1	-	3	5717	c.4703C>T	c.(4702-4704)cCg>cTg	p.P1568L	HIVEP3_ENST00000247584.5_Missense_Mutation_p.P1568L|HIVEP3_ENST00000372583.1_Missense_Mutation_p.P1568L|HIVEP3_ENST00000429157.2_Missense_Mutation_p.P1568L	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1568					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CAGAGAGCTCGGAGGTGCCAA	0.557													14	61					0	0	1	0	0	A	42045766	G	A	42045766	3	1	234	1	0	0	0	0	1	0	0	0	7229	1116	39	1	2541	1	HIVEP3	1	42045766	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1340375	42045766	207204855	32	10778											
ZMYND12	84217	broad.mit.edu	37	chr1	42915659	42915659	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtagaagggcatggaagtgCgcagtggaatcaagagctga	13	7	16	5	1	1	3	1	1	0	2	1	5	1	5	0	3	2	4	0	3	5	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:42915659C>T	ENST00000372565.3	-	2	451	c.182G>A	c.(181-183)cGc>cAc	p.R61H	ZMYND12_ENST00000433602.2_Silent_p.A8A	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	61						intracellular	zinc ion binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CATGGAAGTGCGCAGTGGAAT	0.517													10	52					0	0	1	0	0	T	42915659	C	T	42915659	3	4	234	1	0	0	0	0	1	0	0	0	17765	768	27	1	943	1	ZMYND12	1	42915659	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	869893	42915659	206334962	33	10779											
B4GALT2	8704	broad.mit.edu	37	chr1	44450661	44450661	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctggtccccatggatgaccGcaacctataccgctgcggcg	7	7	11	16	4	0	1	0	1	0	0	1	2	1	2	6	3	3	2	6	3	3	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:44450661G>A	ENST00000356836.6	+	4	1464	c.674G>A	c.(673-675)cGc>cAc	p.R225H	B4GALT2_ENST00000309519.7_Missense_Mutation_p.R254H|B4GALT2_ENST00000434555.2_Missense_Mutation_p.R159H|B4GALT2_ENST00000481924.1_3'UTR|B4GALT2_ENST00000372324.1_Missense_Mutation_p.R225H	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	225					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	ATGGATGACCGCAACCTATAC	0.597													6	31					0	0	1	0	0	A	44450661	G	A	44450661	3	1	234	1	0	0	0	0	1	0	0	0	1269	1087	38	1	684	1	B4GALT2	1	44450661	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1535002	44450661	204799960	34	10780											
MUTYH	4595	broad.mit.edu	37	chr1	45796900	45796900	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtgtgaaattcctcctgcGtcagccagcgagcacctggt	7	9	12	13	3	1	1	1	1	0	0	3	2	3	1	4	2	4	1	4	2	1	1	rs138353003		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:45796900G>A	ENST00000450313.1	-	14	1645	c.1430C>T	c.(1429-1431)aCg>aTg	p.T477M	MUTYH_ENST00000372098.3_Missense_Mutation_p.T474M|MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000488731.2_Missense_Mutation_p.T144M|MUTYH_ENST00000372100.5_Missense_Mutation_p.T460M|MUTYH_ENST00000528332.2_Missense_Mutation_p.T158M|MUTYH_ENST00000529984.1_Missense_Mutation_p.T144M|MUTYH_ENST00000355498.2_Missense_Mutation_p.T449M|MUTYH_ENST00000354383.6_Missense_Mutation_p.T450M|MUTYH_ENST00000372115.3_Missense_Mutation_p.T463M|MUTYH_ENST00000372110.3_Missense_Mutation_p.T464M|MUTYH_ENST00000448481.1_Missense_Mutation_p.T460M|MUTYH_ENST00000372104.1_Missense_Mutation_p.T449M|MUTYH_ENST00000456914.2_Missense_Mutation_p.T449M	NM_001128425.1|NM_012222.2	NP_001121897.1|NP_036354.1	Q9UIF7	MUTYH_HUMAN	mutY homolog	474	Nudix hydrolase.		Missing (in CAPAR; dysfunctional in base excision repair assay).		depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					TTCCTCCTGCGTCAGCCAGCG	0.507			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis				13	62					0	0	1	0	0	A	45796900	G	A	45796900	3	1	234	1	0	0	0	0	1	0	0	0	10041	1145	40	1	231	1	MUTYH	1	45796900	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1346239	45796900	203453721	35	10781											
LRRC41	10489	broad.mit.edu	37	chr1	46745250	46745250	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcagaaattgggctgggCgcttctcaaacagacggcag	11	6	14	10	2	1	2	1	0	1	2	2	2	1	2	0	4	1	4	0	4	2	2	rs28363251		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:46745250C>T	ENST00000343304.6	-	8	2342	c.2057G>A	c.(2056-2058)cGc>cAc	p.R686H	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	686										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					TTGGGCTGGGCGCTTCTCAAA	0.557													18	123					0	0	1	0	0	T	46745250	C	T	46745250	3	4	234	1	0	0	0	0	1	0	0	0	9044	768	27	1	393	1	LRRC41	1	46745250	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	948350	46745250	202505371	36	10782											
LRRC41	10489	broad.mit.edu	37	chr1	46751151	46751151	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccaaggtggagatgctgcGgaatctttgtgaagcttcca	9	11	12	9	1	1	2	0	1	1	1	3	4	3	3	2	3	3	2	2	3	3	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:46751151G>A	ENST00000343304.6	-	4	1663	c.1378C>T	c.(1378-1380)Cgc>Tgc	p.R460C	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	460										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GAGATGCTGCGGAATCTTTGT	0.562													12	66					0	0	1	0	0	A	46751151	G	A	46751151	3	1	234	1	0	0	0	0	1	0	0	0	9044	1116	39	1	1088	1	LRRC41	1	46751151	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	5901	46751151	202499470	37	10783											
CYP4X1	260293	broad.mit.edu	37	chr1	47505158	47505158	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagcatcaagagagatgcCgggaggaggtcaggggcatc	11	5	17	8	1	2	3	2	1	0	2	3	6	2	5	1	5	2	2	1	5	1	0	rs151115170		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:47505158C>T	ENST00000371901.3	+	8	1277	c.1027C>T	c.(1027-1029)Cgg>Tgg	p.R343W	CYP4X1_ENST00000466294.1_3'UTR|CYP4X1_ENST00000538609.1_Missense_Mutation_p.R342W	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	343						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						AGAGAGATGCCGGGAGGAGGT	0.522													6	42					0	0	1	0	0	T	47505158	C	T	47505158	3	4	234	1	0	0	0	0	1	0	0	0	4216	643	23	1	1057	1	CYP4X1	1	47505158	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	754007	47505158	201745463	38	10784											
FOXD2	2306	broad.mit.edu	37	chr1	47904283	47904283	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gatctgcgagttcatcagcgGccgcttcccctactaccggg	6	9	11	15	4	3	0	2	0	1	0	4	2	4	0	4	2	4	2	4	2	2	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:47904283G>A	ENST00000334793.5	+	1	2595	c.476G>A	c.(475-477)gGc>gAc	p.G159D		NM_004474.3	NP_004465.3	O60548	FOXD2_HUMAN	forkhead box D2	159					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			lung(4)	4				READ - Rectum adenocarcinoma(2;0.0908)		TTCATCAGCGGCCGCTTCCCC	0.617													24	85					0	0	1	0	0	A	47904283	G	A	47904283	3	1	234	1	0	0	0	0	1	0	0	0	6030	1203	42	2	478	2	FOXD2	1	47904283	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	399125	47904283	201346338	39	10785											
SLC5A9	200010	broad.mit.edu	37	chr1	48694826	48694826	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggatccatccaaggtcacacGggaggactggggtcaggtcc	9	6	15	11	1	2	0	2	0	0	0	5	3	5	3	3	7	0	0	3	7	1	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:48694826G>A	ENST00000236495.5	+	4	441	c.391G>A	c.(391-393)Ggg>Agg	p.G131R	SLC5A9_ENST00000438567.2_Intron|SLC5A9_ENST00000420136.2_Intron|RP5-1024N4.4_ENST00000606809.1_RNA|SLC5A9_ENST00000533824.1_Missense_Mutation_p.G131R	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	113						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						aaggtcacacgggaggactgg	0.532													23	134					0	0	1	0	0	A	48694826	G	A	48694826	3	1	234	1	0	0	0	0	1	0	0	0	14727	1116	39	1	405	1	SLC5A9	1	48694826	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	790543	48694826	200555795	40	10786											
BEND5	79656	broad.mit.edu	37	chr1	49224879	49224879	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctatggcccaggctcaggccGttctgcttctctagccgagc	5	10	11	15	2	3	0	1	0	2	0	4	1	3	0	3	3	3	3	3	3	2	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:49224879G>A	ENST00000371833.3	-	3	524	c.438C>T	c.(436-438)aaC>aaT	p.N146N	AGBL4_ENST00000371839.1_Intron|AGBL4_ENST00000371838.1_Intron|BEND5_ENST00000476096.1_5'UTR	NM_024603.2	NP_078879.2	Q7L4P6	BEND5_HUMAN	BEN domain containing 5	146										large_intestine(5)|lung(2)|skin(1)	8						GGCTCAGGCCGTTCTGCTTCT	0.612													4	8					0	0	1	0	0	A	49224879	G	A	49224879	2	1	234	1	0	0	0	0	0	0	0	1	1399	1136	40	1		1	BEND5	1	49224879	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	530053	49224879	200025742	41	10787											
LRP8	7804	broad.mit.edu	37	chr1	53728214	53728214	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcaatcttggcctggtcccCccagtcagaccaatacatga	10	9	7	15	0	3	2	2	1	1	1	4	2	4	2	5	2	1	0	5	2	3	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:53728214C>A	ENST00000306052.6	-	11	1779	c.1678G>T	c.(1678-1680)Ggg>Tgg	p.G560W	LRP8_ENST00000371454.2_Missense_Mutation_p.G560W|LRP8_ENST00000465675.1_Missense_Mutation_p.G113W|LRP8_ENST00000347547.2_Missense_Mutation_p.G390W|LRP8_ENST00000354412.3_Missense_Mutation_p.G431W	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	560					cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						GCCTGGTCCCCCCAGTCAGAC	0.502													44	211					5.73435e-26	5.92169e-26	1	1	0	A	53728214	C	A	53728214	3	1	234	1	0	0	0	0	1	0	0	0	9008	623	22	4	1249	4	LRP8	1	53728214	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	4503335	53728214	195522407	42	10788											
C8B	732	broad.mit.edu	37	chr1	57422471	57422471	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacacacaaagccttcacatCgcacttgacttccgcatggt	11	9	6	15	2	1	1	1	1	0	0	3	1	2	1	2	1	1	2	2	1	1	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:57422471C>T	ENST00000543257.1	-	4	772	c.206G>A	c.(205-207)cGa>cAa	p.R69Q	C8B_ENST00000371237.4_Missense_Mutation_p.R121Q|C8B_ENST00000535057.1_Missense_Mutation_p.R59Q	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	121	TSP type-1 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						GCCTTCACATCGCACTTGACT	0.483													49	255					0	0	1	0	0	T	57422471	C	T	57422471	3	4	234	1	0	0	0	0	1	0	0	0	2433	884	31	1	1453	1	C8B	1	57422471	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	3694257	57422471	191828150	43	10789											
FGGY	55277	broad.mit.edu	37	chr1	60073488	60073488	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccagatcagcaaagaccCgatttttgtaccaggcgtct	10	12	8	11	2	2	2	1	0	1	2	3	3	3	2	3	1	2	2	3	1	2	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:60073488C>T	ENST00000371218.4	+	9	1101	c.917C>T	c.(916-918)cCg>cTg	p.P306L	FGGY_ENST00000371210.1_Missense_Mutation_p.P7L|FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000371212.1_Missense_Mutation_p.P218L|FGGY_ENST00000303721.7_Missense_Mutation_p.P306L	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	306					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					AGCAAAGACCCGATTTTTGTA	0.458													8	33					0	0	1	0	0	T	60073488	C	T	60073488	3	4	234	1	0	0	0	0	1	0	0	0	5904	652	23	1	947	1	FGGY	1	60073488	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	2651017	60073488	189177133	44	10790											
CACHD1	57685	broad.mit.edu	37	chr1	65143972	65143972	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggagccaaaagtccctacGttgatgacatgggagcaata	13	8	12	8	1	0	2	0	2	0	0	1	4	1	4	2	2	3	2	2	2	5	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:65143972G>A	ENST00000371073.2	+	23	3223	c.3223G>A	c.(3223-3225)Gtt>Att	p.V1075I	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Missense_Mutation_p.V1024I			Q5VU97	CAHD1_HUMAN	cache domain containing 1	1075					calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						AAGTCCCTACGTTGATGACAT	0.448													5	25					0	0	1	0	0	A	65143972	G	A	65143972	3	1	234	1	0	0	0	0	1	0	0	0	2555	1145	40	1	3160	1	CACHD1	1	65143972	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	5070484	65143972	184106649	45	10791											
CACHD1	57685	broad.mit.edu	37	chr1	65147754	65147754	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtccagaaagaaggcgccGctactggggtcgatcaggaa	12	5	14	10	3	1	2	1	0	0	2	3	4	2	3	2	4	1	1	2	4	4	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:65147754G>A	ENST00000371073.2	+	26	3551	c.3551G>A	c.(3550-3552)cGc>cAc	p.R1184H	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Missense_Mutation_p.R1133H			Q5VU97	CAHD1_HUMAN	cache domain containing 1	1184					calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						AGAAGGCGCCGCTACTGGGGT	0.498													5	42					0	0	1	0	0	A	65147754	G	A	65147754	3	1	234	1	0	0	0	0	1	0	0	0	2555	1087	38	1	3500	1	CACHD1	1	65147754	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	3782	65147754	184102867	46	10792											
JAK1	3716	broad.mit.edu	37	chr1	65303716	65303716	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaattttcacttggtgttcActctcaacaaggacatttct	10	15	5	11	0	4	0	3	0	2	0	5	1	4	1	1	2	1	1	1	2	3	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:65303716A>G	ENST00000342505.4	-	22	3287	c.3039T>C	c.(3037-3039)agT>agC	p.S1013S		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	1013	Protein kinase 2.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		CTTGGTGTTCACTCTCAACAA	0.458			Mis		ALL								4	25					0	0	1	0	0	G	65303716	A	G	65303716	2	3	234	1	0	0	0	0	0	0	0	1	7981	156	6	3		3	JAK1	1	65303716	Silent	SNP	A	TCGA-J9-A52C-01A-11D-A26M-08	155962	65303716	183946905	47	10793											
ZRANB2	9406	broad.mit.edu	37	chr1	71536662	71536662	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatattttgagagatcagcGtcatcttcatcctcatccta	10	16	5	10	1	5	2	4	1	1	1	7	3	7	2	2	0	1	0	2	0	3	6			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:71536662G>A	ENST00000370920.3	-	7	832	c.531C>T	c.(529-531)gaC>gaT	p.D177D	ZRANB2_ENST00000254821.6_Silent_p.D177D	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN	zinc finger, RAN-binding domain containing 2	177	Required for nuclear targeting.				mRNA processing|RNA splicing	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						AGAGATCAGCGTCATCTTCAT	0.328													3	10					0	0	1	0	0	A	71536662	G	A	71536662	2	1	234	1	0	0	0	0	0	0	0	1	18265	1136	40	1		1	ZRANB2	1	71536662	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	6232946	71536662	177713959	48	10794											
ASB17	127247	broad.mit.edu	37	chr1	76397716	76397716	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acacatatttcagtgaagtcGaggttaaaacttacttcaaa	16	12	6	7	1	2	1	2	1	0	0	3	2	2	1	0	1	2	1	0	1	6	5	rs11811988		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:76397716G>A	ENST00000284142.6	-	1	400	c.261C>T	c.(259-261)ctC>ctT	p.L87L		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	87					intracellular signal transduction					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						CAGTGAAGTCGAGGTTAAAAC	0.378													10	28					0	0	1	0	0	A	76397716	G	A	76397716	2	1	234	1	0	0	0	0	0	0	0	1	1020	1045	37	1		1	ASB17	1	76397716	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	4861054	76397716	172852905	49	10795											
LRRC8D	55144	broad.mit.edu	37	chr1	90400389	90400389	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgaatctctccgagagttgCggcaccttaagattctccac	9	12	8	12	2	2	3	0	1	2	2	5	4	3	3	3	1	1	2	3	1	2	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:90400389C>T	ENST00000337338.5	+	3	2169	c.1762C>T	c.(1762-1764)Cgg>Tgg	p.R588W	LRRC8D_ENST00000394593.3_Missense_Mutation_p.R588W	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	588						integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		CCGAGAGTTGCGGCACCTTAA	0.398													5	41					0	0	1	0	0	T	90400389	C	T	90400389	3	4	234	1	0	0	0	0	1	0	0	0	9069	759	27	1	1764	1	LRRC8D	1	90400389	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	14002673	90400389	158850232	50	10796											
AGL	178	broad.mit.edu	37	chr1	100346968	100346970	+	In_Frame_Del	DEL	CTT	CTT	-																															ccaggtgtgctatcagtaaaCttcatcaggagcttggagcc																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:100346968_100346970delCTT	ENST00000294724.4	+	16	2600_2602	c.2122_2124delCTT	c.(2122-2124)del	p.L708del	AGL_ENST00000361302.3_In_Frame_Del_p.L692del|AGL_ENST00000361522.4_In_Frame_Del_p.L691del|AGL_ENST00000370163.3_In_Frame_Del_p.L708del|AGL_ENST00000361915.3_In_Frame_Del_p.L708del|AGL_ENST00000370165.3_In_Frame_Del_p.L708del|AGL_ENST00000370161.2_In_Frame_Del_p.L692del	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	708					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TATCAGTAAACTTCATCAGGAGC	0.394													12	99	---	---	---	---						-	100346970	CTT	-	100346968	7	5	234	1	0	1	0	1	0	0	0	0	381	565	20	0	2249	0	AGL	1	100346968	In_Frame_Del	DEL	CTT	TCGA-J9-A52C-01A-11D-A26M-08	9946579	100346968	148903653	51	10797											
PSRC1	84722	broad.mit.edu	37	chr1	109823608	109823608	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccctgcggccggggcaggCgttgagagttgctggtagaa	6	8	17	10	3	0	2	0	1	0	2	1	3	1	2	2	5	2	5	2	5	2	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:109823608C>T	ENST00000438534.2	-	5	923	c.785G>A	c.(784-786)cGc>cAc	p.R262H	PSRC1_ENST00000369909.2_Missense_Mutation_p.R232H|PSRC1_ENST00000369904.3_Intron|PSRC1_ENST00000409138.2_Missense_Mutation_p.R262H|PSRC1_ENST00000369903.2_Missense_Mutation_p.R232H|PSRC1_ENST00000369907.3_Missense_Mutation_p.R232H|PSRC1_ENST00000409267.1_Missense_Mutation_p.R232H	NM_001005290.3	NP_001005290.1	Q6PGN9	PSRC1_HUMAN	proline/serine-rich coiled-coil 1	262	Pro/Ser-rich.				cell division|microtubule bundle formation|mitotic metaphase plate congression|negative regulation of cell growth|positive regulation of microtubule polymerization|positive regulation of transcription, DNA-dependent|regulation of mitotic spindle organization	cytosol|midbody|spindle pole	microtubule binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	7		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213)		CCGGGGCAGGCGTTGAGAGTT	0.637													17	48					0	0	1	0	0	T	109823608	C	T	109823608	3	4	234	1	0	0	0	0	1	0	0	0	12768	768	27	1	350	1	PSRC1	1	109823608	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	9476640	109823608	139427013	52	10798											
SLC6A17	388662	broad.mit.edu	37	chr1	110738255	110738255	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggggctgttgttcgtccagCgctccggaaactactttgtc	5	13	12	11	3	0	0	0	0	0	0	4	1	2	1	2	3	3	4	2	3	2	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:110738255C>T	ENST00000331565.4	+	10	2025	c.1540C>T	c.(1540-1542)Cgc>Tgc	p.R514C		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	514					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity	p.F511_R514del(1)|p.R514C(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		GTTCGTCCAGCGCTCCGGAAA	0.582													8	52					0	0	1	0	0	T	110738255	C	T	110738255	3	4	234	1	0	0	0	0	1	0	0	0	14735	768	27	1	1574	1	SLC6A17	1	110738255	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	914647	110738255	138512366	53	10799											
RHOC	389	broad.mit.edu	37	chr1	113246352	113246352	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactgatccttgctgaagaCgatgaggaggcaggtcttcc	11	9	12	9	1	1	4	0	3	1	1	3	6	3	5	2	3	2	2	2	3	2	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:113246352C>T	ENST00000285735.2	-	3	1279	c.70G>A	c.(70-72)Gtc>Atc	p.V24I	RP11-426L16.10_ENST00000471038.2_5'UTR|RHOC_ENST00000369633.2_Missense_Mutation_p.V24I|RHOC_ENST00000339083.7_Missense_Mutation_p.V24I|RHOC_ENST00000369637.1_Missense_Mutation_p.V24I|RP11-426L16.10_ENST00000606505.1_Missense_Mutation_p.R187H|RHOC_ENST00000369638.2_Missense_Mutation_p.V24I|RHOC_ENST00000369642.3_Missense_Mutation_p.V24I|RHOC_ENST00000369632.2_Missense_Mutation_p.V24I|RHOC_ENST00000369636.2_Missense_Mutation_p.V24I			P08134	RHOC_HUMAN	ras homolog family member C	24					axon guidance|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGCTGAAGACGATGAGGAGG	0.537													4	20					0	0	1	0	0	T	113246352	C	T	113246352	3	4	234	1	0	0	0	0	1	0	0	0	13386	536	19	1	527	1	RHOC	1	113246352	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	2508097	113246352	136004269	54	10800											
TBX15	6913	broad.mit.edu	37	chr1	119427785	119427785	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caccgtaggcttccatcttgCtgttgccaggcaacgaggga	8	9	12	12	2	1	0	0	0	1	0	2	2	2	1	3	3	3	5	3	3	2	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:119427785C>T	ENST00000369429.3	-	8	1388	c.1379G>A	c.(1378-1380)aGc>aAc	p.S460N	TBX15_ENST00000207157.3_Missense_Mutation_p.S354N			Q96SF7	TBX15_HUMAN	T-box 15	460						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		TTCCATCTTGCTGTTGCCAGG	0.567													6	62					0	0	1	0	0	T	119427785	C	T	119427785	3	4	234	1	0	0	0	0	1	0	0	0	15712	797	28	2	433	2	TBX15	1	119427785	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	6181433	119427785	129822836	55	10801											
PRPF3	9129	broad.mit.edu	37	chr1	150297487	150297487	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgggtttctcagagcctacGgtggtcacagcagcattgaa	9	10	12	10	1	2	2	2	1	1	1	3	2	2	2	1	3	4	3	1	3	2	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:150297487G>A	ENST00000543398.1	+	0	175				PRPF3_ENST00000324862.6_Silent_p.T29T|PRPF3_ENST00000414970.2_Silent_p.T29T			O43395	PRPF3_HUMAN	pre-mRNA processing factor 3						nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		CAGAGCCTACGGTGGTCACAG	0.478													17	64					0	0	1	0	0	A	150297487	G	A	150297487	1	1	234	1	0	0	0	0	0	0	0	0	12617	1103	39	1		1	PRPF3	1	150297487	Translation_Start_Site	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	30869702	150297487	98953134	56	10802											
SEMA6C	10500	broad.mit.edu	37	chr1	151109506	151109506	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaaggcccgaggcgagccGcccatgtcacgtttacatac	9	7	10	15	4	1	0	1	0	0	0	2	2	2	0	4	2	3	1	4	2	3	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:151109506G>A	ENST00000341697.3	-	11	2492	c.801C>T	c.(799-801)ggC>ggT	p.G267G				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	267	Sema.					integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GAGGCGAGCCGCCCATGTCAC	0.567													18	113					0	0	1	0	0	A	151109506	G	A	151109506	2	1	234	1	0	0	0	0	0	0	0	1	14095	1074	38	1		1	SEMA6C	1	151109506	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	812019	151109506	98141115	57	10803											
PSMD4	5710	broad.mit.edu	37	chr1	151234660	151234660	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggacaacagtgagtatatgcGgaatggagacttcttaccca	13	9	11	8	1	1	2	0	1	1	1	1	5	1	4	1	3	3	1	1	3	5	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:151234660G>A	ENST00000368884.3	+	2	130	c.50G>A	c.(49-51)cGg>cAg	p.R17Q	PSMD4_ENST00000368881.4_Missense_Mutation_p.R17Q	NM_002810.2	NP_002801.1	P55036	PSMD4_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 4	17	VWFA.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|lung(7)	11	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GAGTATATGCGGAATGGAGAC	0.493													12	66					0	0	1	0	0	A	151234660	G	A	151234660	3	1	234	1	0	0	0	0	1	0	0	0	12749	1116	39	1	56	1	PSMD4	1	151234660	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	125154	151234660	98015961	58	10804											
CRTC2	200186	broad.mit.edu	37	chr1	153920995	153920995	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtcaagttctggtggttGaaggtgtggggatcctgggg	5	12	20	4	0	2	1	1	1	1	0	3	2	3	2	1	8	0	2	1	8	2	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:153920995G>T	ENST00000368633.1	-	13	1927	c.1800C>A	c.(1798-1800)ttC>ttA	p.F600L	CRTC2_ENST00000368630.3_Missense_Mutation_p.F280L	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	600					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TCTGGTGGTTGAAGGTGTGGG	0.592													6	50					0.00198382	0.00199479	1	1	0	T	153920995	G	T	153920995	3	4	234	1	0	0	0	0	1	0	0	0	3923	1281	45	4	289	4	CRTC2	1	153920995	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	2686335	153920995	95329626	59	10805											
ADAR	103	broad.mit.edu	37	chr1	154557716	154557716	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacagtgcctctggtaccGtccaggatctccaggtcata	8	10	9	14	1	3	0	1	0	2	0	6	1	5	1	5	3	2	1	5	3	2	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:154557716G>A	ENST00000368474.4	-	14	3619	c.3420C>T	c.(3418-3420)gaC>gaT	p.D1140D	ADAR_ENST00000368471.3_Silent_p.D845D|ADAR_ENST00000292205.5_Silent_p.D1183D	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	1140	A to I editase.				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		CTCTGGTACCGTCCAGGATCT	0.542													13	95					0	0	1	0	0	A	154557716	G	A	154557716	2	1	234	1	0	0	0	0	0	0	0	1	280	1136	40	1		1	ADAR	1	154557716	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	636721	154557716	94692905	60	10806											
LMNA	4000	broad.mit.edu	37	chr1	156105740	156105740	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctggaggactcactggccCgtgagcgggacaccagccgg	8	4	15	14	3	1	1	1	1	0	0	1	4	1	4	4	5	2	0	4	5	0	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:156105740C>T	ENST00000368300.4	+	6	1197	c.985C>T	c.(985-987)Cgt>Tgt	p.R329C	LMNA_ENST00000368301.2_Missense_Mutation_p.R329C|LMNA_ENST00000368299.3_Missense_Mutation_p.R329C|LMNA_ENST00000496738.1_3'UTR|LMNA_ENST00000361308.4_Missense_Mutation_p.R329C|LMNA_ENST00000347559.2_Missense_Mutation_p.R329C|LMNA_ENST00000392353.3_Missense_Mutation_p.R248C|LMNA_ENST00000473598.2_Missense_Mutation_p.R230C|LMNA_ENST00000448611.2_Missense_Mutation_p.R217C|LMNA_ENST00000368297.1_Missense_Mutation_p.R248C	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C	329	Coil 2.|Rod.				cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					CTCACTGGCCCGTGAGCGGGA	0.657									Werner syndrome;Hutchinson-Gilford Progeria Syndrome				9	32					0	0	1	0	0	T	156105740	C	T	156105740	3	4	234	1	0	0	0	0	1	0	0	0	8889	652	23	1	1007	1	LMNA	1	156105740	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	1548024	156105740	93144881	61	10807											
ARHGEF11	9826	broad.mit.edu	37	chr1	156937788	156937788	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agatcactcacctggtcaccGgttgaggggactgctgcatc	8	9	12	12	1	3	2	3	1	0	1	4	3	3	3	2	4	2	3	2	4	0	1	rs149641569		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:156937788G>A	ENST00000368194.3	-	11	1993	c.954C>T	c.(952-954)acC>acT	p.T318T	ARHGEF11_ENST00000361409.2_Silent_p.T278T	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	278	RGSL.				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCTGGTCACCGGTTGAGGGGA	0.582													7	45					0	0	1	0	0	A	156937788	G	A	156937788	2	1	234	1	0	0	0	0	0	0	0	1	893	1103	39	1		1	ARHGEF11	1	156937788	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	832048	156937788	92312833	62	10808											
ARHGAP30	257106	broad.mit.edu	37	chr1	161039354	161039354	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgcaggtgctcctgcaagtCgcacccaaaaacccgctcct	9	7	8	17	2	0	0	0	0	0	0	3	0	2	0	4	1	4	5	4	1	3	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:161039354C>T	ENST00000368013.3	-	1	381	c.61G>A	c.(61-63)Gac>Aac	p.D21N	ARHGAP30_ENST00000368015.1_Intron|ARHGAP30_ENST00000368016.3_Missense_Mutation_p.D21N	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	21	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			TCCTGCAAGTCGCACCCAAAA	0.637													19	73					0	0	1	0	0	T	161039354	C	T	161039354	3	4	234	1	0	0	0	0	1	0	0	0	876	884	31	1	3292	1	ARHGAP30	1	161039354	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	4101566	161039354	88211267	63	10809											
DDR2	4921	broad.mit.edu	37	chr1	162729671	162729671	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgaataccacgtgtggcccGgctatgactatgtgggctgg	8	10	14	9	2	0	2	0	2	0	0	0	2	0	2	2	4	1	2	2	4	4	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:162729671G>A	ENST00000367922.2	+	9	1195	c.757G>A	c.(757-759)Ggc>Agc	p.G253S	DDR2_ENST00000367921.3_Missense_Mutation_p.G253S	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	253					cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			CGTGTGGCCCGGCTATGACTA	0.527													18	56					0	0	1	0	0	A	162729671	G	A	162729671	3	1	234	1	0	0	0	0	1	0	0	0	4360	1116	39	1	779	1	DDR2	1	162729671	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1690317	162729671	86520950	64	10810											
TNR	7143	broad.mit.edu	37	chr1	175372583	175372583	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtcatccccgctgtactcGctgtcacagatgcactggcc	7	9	9	16	2	2	1	2	0	0	1	4	1	3	1	3	1	2	4	3	1	1	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:175372583G>A	ENST00000367674.1	-	4	1377	c.669C>T	c.(667-669)agC>agT	p.S223S	TNR_ENST00000263525.2_Silent_p.S223S	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	223	Cys-rich.|EGF-like 2.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.S223S(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CGCTGTACTCGCTGTCACAGA	0.627													28	119					0	0	1	0	0	A	175372583	G	A	175372583	2	1	234	1	0	0	0	0	0	0	0	1	16398	1078	38	1		1	TNR	1	175372583	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	12642912	175372583	73878038	65	10811											
PAPPA2	60676	broad.mit.edu	37	chr1	176526076	176526076	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagtgtggaagaggcgggcGgaagatgggcagggagactc	11	4	20	6	2	0	3	0	0	0	3	1	6	0	5	0	6	0	1	0	6	3	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:176526076G>A	ENST00000367662.3	+	2	1782	c.618G>A	c.(616-618)gcG>gcA	p.A206A	PAPPA2_ENST00000367661.3_Silent_p.A206A	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	206					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AGAGGCGGGCGGAAGATGGGC	0.567													23	101					0	0	1	0	0	A	176526076	G	A	176526076	2	1	234	1	0	0	0	0	0	0	0	1	11480	1103	39	1		1	PAPPA2	1	176526076	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1153493	176526076	72724545	66	10812											
LHX4	89884	broad.mit.edu	37	chr1	180235547	180235547	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcttcggcacaaaatgcaCggcctgccagcagggtatcc	9	6	12	14	3	0	0	0	0	0	0	2	0	1	0	3	3	3	5	3	3	3	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:180235547C>T	ENST00000263726.2	+	3	513	c.269C>T	c.(268-270)aCg>aTg	p.T90M		NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN	LIM homeobox 4	90	LIM zinc-binding 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						ACAAAATGCACGGCCTGCCAG	0.612													9	73					0	0	1	0	0	T	180235547	C	T	180235547	3	4	234	1	0	0	0	0	1	0	0	0	8813	536	19	1	279	1	LHX4	1	180235547	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	3709471	180235547	69015074	67	10813											
RGS16	6004	broad.mit.edu	37	chr1	182569617	182569617	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtctgcaggttcatcctcGtcagctcgtgggtctcatgg	5	12	12	12	2	4	0	3	0	2	0	8	0	5	0	1	3	2	3	1	3	0	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:182569617G>A	ENST00000367558.5	-	5	567	c.419C>T	c.(418-420)aCg>aTg	p.T140M		NM_002928.3	NP_002919.3	O15492	RGS16_HUMAN	regulator of G-protein signaling 16	140	RGS.				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			NS(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)	11						GTTCATCCTCGTCAGCTCGTG	0.592													12	62					0	0	1	0	0	A	182569617	G	A	182569617	3	1	234	1	0	0	0	0	1	0	0	0	13348	1145	40	1	193	1	RGS16	1	182569617	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	2334070	182569617	66681004	68	10814											
CFH	3075	broad.mit.edu	37	chr1	196709822	196709824	+	In_Frame_Del	DEL	AGA	AGA	-																															tcagacagttatcagtatggAgaagaagttacgtacaaatg																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:196709822_196709824delAGA	ENST00000367429.4	+	18	3096_3098	c.2856_2858delAGA	c.(2854-2859)gga>gg	p.GE952del		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	952	Sushi 16.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ATCAGTATGGAGAAGAAGTTACG	0.384													12	66	---	---	---	---						-	196709824	AGA	-	196709822	7	5	234	1	0	1	0	1	0	0	0	0	3305	291	11	0	2944	0	CFH	1	196709822	In_Frame_Del	DEL	AGA	TCGA-J9-A52C-01A-11D-A26M-08	14140205	196709822	52540799	69	10815											
KIF21B	23046	broad.mit.edu	37	chr1	200968581	200968581	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctcacagccactctcgtctCgctcttcctcctcctgggca	4	11	6	20	2	4	0	1	0	3	0	9	0	7	0	5	1	1	2	5	1	0	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:200968581C>T	ENST00000332129.2	-	13	2097	c.1781G>A	c.(1780-1782)cGa>cAa	p.R594Q	KIF21B_ENST00000360529.5_Missense_Mutation_p.R594Q|KIF21B_ENST00000461742.2_Missense_Mutation_p.R594Q|KIF21B_ENST00000422435.2_Missense_Mutation_p.R594Q	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	594					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						ACTCTCGTCTCGCTCTTCCTC	0.632													18	81					0	0	1	0	0	T	200968581	C	T	200968581	3	4	234	1	0	0	0	0	1	0	0	0	8331	884	31	1	3181	1	KIF21B	1	200968581	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	4258759	200968581	48282040	70	10816											
CYB5R1	51706	broad.mit.edu	37	chr1	202932250	202932250	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgattgggatagcgggccTgcagttcctctaagtcctcc	7	10	12	12	2	1	0	0	0	1	0	4	2	4	1	4	2	3	2	4	2	2	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:202932250T>G	ENST00000367249.4	-	8	763	c.689A>C	c.(688-690)cAg>cCg	p.Q230P	CYB5R1_ENST00000497655.1_5'UTR	NM_016243.2	NP_057327.2	Q9UHQ9	NB5R1_HUMAN	cytochrome b5 reductase 1	230					sterol biosynthetic process	integral to membrane	cytochrome-b5 reductase activity			breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(75;0.141)			ATAGCGGGCCTGCAGTTCCTC	0.483													9	55					0	0	1	0	0	G	202932250	T	G	202932250	3	3	234	1	0	0	0	0	1	0	0	0	4149	1580	55	5	236	5	CYB5R1	1	202932250	Missense_Mutation	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	1963669	202932250	46318371	71	10817											
PIK3C2B	5287	broad.mit.edu	37	chr1	204409441	204409441	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatgtcctggcgaaggtcGtccccacactggatggaggg	8	7	15	11	2	0	0	0	0	0	0	3	3	2	2	3	5	1	1	3	5	1	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:204409441G>A	ENST00000367187.3	-	23	3814	c.3258C>T	c.(3256-3258)gaC>gaT	p.D1086D	PIK3C2B_ENST00000424712.2_Silent_p.D1058D	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1086	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GGCGAAGGTCGTCCCCACACT	0.552													12	74					0	0	1	0	0	A	204409441	G	A	204409441	2	1	234	1	0	0	0	0	0	0	0	1	11958	1136	40	1		1	PIK3C2B	1	204409441	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1477191	204409441	44841180	72	10818											
NFASC	23114	broad.mit.edu	37	chr1	204921196	204921196	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatcacatcgtggacccccGtgataacatcctgattgagt	10	10	10	11	2	1	3	1	3	0	0	3	5	2	5	3	2	1	0	3	2	1	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:204921196G>A	ENST00000367172.4	+	5	495	c.167G>A	c.(166-168)cGt>cAt	p.R56H	NFASC_ENST00000404076.1_Missense_Mutation_p.R50H|NFASC_ENST00000360049.4_Missense_Mutation_p.R50H|NFASC_ENST00000404907.1_Missense_Mutation_p.R50H|NFASC_ENST00000367169.4_Missense_Mutation_p.R56H|NFASC_ENST00000367170.4_Missense_Mutation_p.R56H|NFASC_ENST00000403080.1_Missense_Mutation_p.R56H|NFASC_ENST00000401399.1_Missense_Mutation_p.R56H|NFASC_ENST00000339876.6_Missense_Mutation_p.R56H|NFASC_ENST00000367171.4_Missense_Mutation_p.R56H|NFASC_ENST00000539706.1_Missense_Mutation_p.R50H|NFASC_ENST00000338586.6_Missense_Mutation_p.R56H|NFASC_ENST00000338515.6_Missense_Mutation_p.R56H|NFASC_ENST00000513543.1_Missense_Mutation_p.R50H			O94856	NFASC_HUMAN	neurofascin	56	Ig-like C2-type 1.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GTGGACCCCCGTGATAACATC	0.577													9	41					0	0	1	0	0	A	204921196	G	A	204921196	3	1	234	1	0	0	0	0	1	0	0	0	10406	1145	40	1	177	1	NFASC	1	204921196	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	511755	204921196	44329425	73	10819											
SLC41A1	254428	broad.mit.edu	37	chr1	205779319	205779319	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcggggaaggtggcgcagggCcacggtctgtgctgacgtcg	5	6	20	10	5	1	1	0	1	1	0	2	2	1	2	1	6	1	2	1	6	1	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:205779319C>T	ENST00000367137.3	-	2	1265	c.251G>A	c.(250-252)gGc>gAc	p.G84D		NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	84						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			TGGCGCAGGGCCACGGTCTGT	0.627													10	75					0	0	1	0	0	T	205779319	C	T	205779319	3	4	234	1	0	0	0	0	1	0	0	0	14684	739	26	2	1330	2	SLC41A1	1	205779319	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	858123	205779319	43471302	74	10820											
HHAT	55733	broad.mit.edu	37	chr1	210796908	210796908	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagctcgccgtcgattccaCgctgcccttgcttcttgttc	4	13	8	16	4	1	0	0	0	1	0	5	1	2	0	3	0	3	4	3	0	1	5	rs117382486	by1000genomes	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:210796908C>T	ENST00000367010.1	+	11	1511	c.1284C>T	c.(1282-1284)caC>caT	p.H428H	HHAT_ENST00000541565.1_Silent_p.H291H|HHAT_ENST00000537898.1_Silent_p.H363H|HHAT_ENST00000391905.3_Silent_p.H428H|HHAT_ENST00000261458.3_Silent_p.H428H|HHAT_ENST00000413764.2_Silent_p.H428H|HHAT_ENST00000367009.1_Silent_p.H118H|HHAT_ENST00000545781.1_Silent_p.H365H|HHAT_ENST00000308852.6_Silent_p.H383H|HHAT_ENST00000545154.1_Silent_p.H429H	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	428					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		GTCGATTCCACGCTGCCCTTG	0.502													35	184					0	0	1	0	0	T	210796908	C	T	210796908	2	4	234	1	0	0	0	0	0	0	0	1	7130	535	19	1		1	HHAT	1	210796908	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	5017589	210796908	38453713	75	10821											
RCOR3	55758	broad.mit.edu	37	chr1	211462719	211462719	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggcaactggacatggagtTgatctctctaaaacgtcagg	12	9	12	8	1	3	1	1	1	2	0	4	4	3	3	0	4	2	2	0	4	3	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:211462719T>C	ENST00000367005.4	+	7	887	c.746T>C	c.(745-747)tTg>tCg	p.L249S	RCOR3_ENST00000367006.4_Missense_Mutation_p.L307S|RCOR3_ENST00000452621.2_Missense_Mutation_p.L307S|RCOR3_ENST00000419091.2_Missense_Mutation_p.L307S	NM_018254.3	NP_060724.1	Q9P2K3	RCOR3_HUMAN	REST corepressor 3	249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		GACATGGAGTTGATCTCTCTA	0.413													7	29					0	0	1	0	0	C	211462719	T	C	211462719	3	2	234	1	0	0	0	0	1	0	0	0	13236	1821	63	3	950	3	RCOR3	1	211462719	Missense_Mutation	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	665811	211462719	37787902	76	10822											
PTPN14	5784	broad.mit.edu	37	chr1	214556764	214556764	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctccttcacactagtcaggtCgggttccgagatggatgggc	7	10	13	11	2	2	1	2	0	0	1	5	3	4	2	2	4	0	1	2	4	1	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:214556764C>T	ENST00000366956.5	-	13	2628	c.2434G>A	c.(2434-2436)Gac>Aac	p.D812N	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	812					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CTAGTCAGGTCGGGTTCCGAG	0.567													9	76					0	0	1	0	0	T	214556764	C	T	214556764	3	4	234	1	0	0	0	0	1	0	0	0	12833	884	31	1	1157	1	PTPN14	1	214556764	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	3094045	214556764	34693857	77	10823											
BPNT1	10380	broad.mit.edu	37	chr1	220253160	220253160	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatatgcggaggctaccaacCgcatcaacacagtgttactg	13	8	9	11	2	1	0	1	0	0	0	1	1	1	1	2	2	5	3	2	2	6	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:220253160C>T	ENST00000469520.2	-	3	478	c.29G>A	c.(28-30)cGg>cAg	p.R10Q	BPNT1_ENST00000414869.2_Missense_Mutation_p.R10Q|BPNT1_ENST00000322067.7_Missense_Mutation_p.R10Q|BPNT1_ENST00000482136.1_Intron|BPNT1_ENST00000544404.1_Intron|BPNT1_ENST00000354807.3_Missense_Mutation_p.R10Q			O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	10					3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process	cytosol	3'(2'),5'-bisphosphate nucleotidase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14				GBM - Glioblastoma multiforme(131;0.0558)		GGCTACCAACCGCATCAACAC	0.398													4	34					0	0	1	0	0	T	220253160	C	T	220253160	3	4	234	1	0	0	0	0	1	0	0	0	1496	652	23	1	929	1	BPNT1	1	220253160	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	5696396	220253160	28997461	78	10824											
LBR	3930	broad.mit.edu	37	chr1	225598067	225598067	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catggccaaggatggaacagCgcggtcctgtattttcattt	9	12	11	9	2	1	0	1	0	0	0	2	2	2	2	2	4	2	1	2	4	3	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:225598067C>T	ENST00000338179.2	-	10	1365	c.1240G>A	c.(1240-1242)Gct>Act	p.A414T	LBR_ENST00000272163.4_Missense_Mutation_p.A414T	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	414					cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity	p.A414T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		GATGGAACAGCGCGGTCCTGT	0.433													15	75					0	0	1	0	0	T	225598067	C	T	225598067	3	4	234	1	0	0	0	0	1	0	0	0	8691	768	27	1	627	1	LBR	1	225598067	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	5344907	225598067	23652554	79	10825											
PARP1	142	broad.mit.edu	37	chr1	226551700	226551700	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctattgggtctccctgagaCgtatggcagtagttggcact	7	12	12	10	1	1	1	0	1	1	1	2	2	1	1	2	3	0	5	2	3	3	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:226551700C>T	ENST00000366794.5	-	20	2873	c.2730G>A	c.(2728-2730)acG>acA	p.T910T	PARP1_ENST00000490921.1_5'UTR	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	910	PARP catalytic.				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding	p.T910T(1)		breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		CTCCCTGAGACGTATGGCAGT	0.498								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					14	49					0	0	1	0	0	T	226551700	C	T	226551700	2	4	234	1	0	0	0	0	0	0	0	1	11501	523	19	1		1	PARP1	1	226551700	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	953633	226551700	22698921	80	10826											
OBSCN	84033	broad.mit.edu	37	chr1	228487117	228487117	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatacagcctgagacaagaCggggctgtgtgtgagctgca	12	7	14	8	1	0	3	0	2	0	2	0	4	0	3	1	2	4	3	1	2	3	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:228487117C>T	ENST00000570156.2	+	50	13442	c.13368C>T	c.(13366-13368)gaC>gaT	p.D4456D	RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000359599.6_3'UTR|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000366707.4_Silent_p.D1146D	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3499	Ig-like 46.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGAGACAAGACGGGGCTGTGT	0.567													18	80					0	0	1	0	0	T	228487117	C	T	228487117	2	4	234	1	0	0	0	0	0	0	0	1	10860	551	19	1		1	OBSCN	1	228487117	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	1935417	228487117	20763504	81	10827											
TRIM67	440730	broad.mit.edu	37	chr1	231299693	231299693	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	accccggtgtgttatctgtgCctggaggagggccggcacgc	5	8	16	12	3	1	0	0	0	1	0	1	2	1	2	4	5	1	2	4	5	1	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:231299693C>T	ENST00000444294.3	+	1	1836	c.978C>T	c.(976-978)tgC>tgT	p.C326C	TRIM67_ENST00000366652.2_Silent_p.C326C|TRIM67_ENST00000366653.5_Silent_p.C326C|TRIM67_ENST00000449018.3_Silent_p.C264C	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	326						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				GTTATCTGTGCCTGGAGGAGG	0.652													3	12					0	0	1	0	0	T	231299693	C	T	231299693	2	4	234	1	0	0	0	0	0	0	0	1	16601	747	26	2		2	TRIM67	1	231299693	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	2812576	231299693	17950928	82	10828											
PCNXL2	80003	broad.mit.edu	37	chr1	233190173	233190173	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctccacagagggactcctGgagggtccttgtcaagtgtt	7	11	13	10	0	2	1	1	0	1	1	5	3	4	3	3	3	0	1	3	3	1	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:233190173G>A	ENST00000258229.8	-	25	4426	c.4192C>T	c.(4192-4194)Cag>Tag	p.Q1398*	PCNXL2_ENST00000344698.2_Nonsense_Mutation_p.Q50*	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1398						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				AGGGACTCCTGGAGGGTCCTT	0.438													5	30					0	0	1	0	0	A	233190173	G	A	233190173	4	1	234	1	0	0	0	0	0	1	0	0	11639	1357	47	2	2261	2	PCNXL2	1	233190173	Nonsense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1890480	233190173	16060448	83	10829											
FMN2	56776	broad.mit.edu	37	chr1	240370883	240370883	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgggcatacctcctccgcCgcctctacccggagcaggca	7	5	11	18	4	1	0	0	0	1	0	3	1	3	1	6	3	4	3	6	3	2	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr1:240370883C>T	ENST00000319653.9	+	5	3001	c.2771C>T	c.(2770-2772)cCg>cTg	p.P924L		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	924	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCTCCTCCGCCGCCTCTACCC	0.677													27	73					0	0	1	0	0	T	240370883	C	T	240370883	3	4	234	1	0	0	0	0	1	0	0	0	5983	652	23	1	2789	1	FMN2	1	240370883	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	7180710	240370883	8879738	84	10830											
HADHB	3032	broad.mit.edu	37	chr2	26505777	26505777	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggccatgggttataagcCgaaggcatatttgaggtaaa	12	11	12	6	1	1	1	0	1	1	0	1	2	1	1	2	4	1	3	2	4	6	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:26505777C>T	ENST00000317799.5	+	11	1102	c.998C>T	c.(997-999)cCg>cTg	p.P333L	HADHB_ENST00000545822.1_Missense_Mutation_p.P311L|HADHB_ENST00000494615.1_3'UTR|HADHB_ENST00000405867.3_Missense_Mutation_p.P210L|HADHB_ENST00000537713.1_Missense_Mutation_p.P318L	NM_000183.2	NP_000174.1	P55084	ECHB_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit	333					fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTTATAAGCCGAAGGCATAT	0.363													6	24					0	0	1	0	0	T	26505777	C	T	26505777	3	4	234	1	0	0	0	0	1	0	0	0	6985	652	23	1	1036	1	HADHB	2	26505777	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08		26505777	216693596	85	10831											
C2orf71	388939	broad.mit.edu	37	chr2	29297043	29297043	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccgccctgacatcctggccGaattgctttgggctttttca	5	14	9	13	2	1	1	1	1	0	0	3	2	3	1	4	2	1	2	4	2	1	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:29297043G>A	ENST00000331664.5	-	1	84	c.85C>T	c.(85-87)Cgg>Tgg	p.R29W		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	29					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CATCCTGGCCGAATTGCTTTG	0.512													12	43					0	0	1	0	0	A	29297043	G	A	29297043	3	1	234	1	0	0	0	0	1	0	0	0	2205	1057	37	1	3789	1	C2orf71	2	29297043	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	2791266	29297043	213902330	86	10832											
BIRC6	57448	broad.mit.edu	37	chr2	32667453	32667453	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatttctgtcagacatcgtaCgtgtttgcttctttgaggca	8	16	9	8	2	3	2	1	1	2	1	4	2	3	2	0	1	2	4	0	1	2	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:32667453C>T	ENST00000421745.2	+	19	4302	c.4168C>T	c.(4168-4170)Cgt>Tgt	p.R1390C		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1390					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AGACATCGTACGTGTTTGCTT	0.398													3	7					0	0	1	0	0	T	32667453	C	T	32667453	3	4	234	1	0	0	0	0	1	0	0	0	1437	536	19	1	4242	1	BIRC6	2	32667453	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	3370410	32667453	210531920	87	10833											
FAM98A	25940	broad.mit.edu	37	chr2	33813402	33813402	+	Splice_Site	DEL	T	T	-																															tttggtactaaaggtcttacTtttttttcaatcccgctgaa																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:33813402delT	ENST00000403368.1	-	4	591	c.522_splice	c.e4+1	p.K174_splice	FAM98A_ENST00000238823.8_Splice_Site_p.K174_splice|FAM98A_ENST00000441530.2_Intron|FAM98A_ENST00000498340.1_Intron	NM_015475.3	NP_056290.3	Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	175										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					AAGGTCTTACTTTTTTTTCAA	0.338													17	55	---	---	---	---						-	33813402	T	-	33813402	8	5	234	1	0	1	0	1	0	0	1	0	5689	1623	56	0	1054	0	FAM98A	2	33813402	Splice_Site	DEL	T	TCGA-J9-A52C-01A-11D-A26M-08	1145949	33813402	209385971	88	10834											
SPTBN1	0	broad.mit.edu	37	chr2	54886368	54886368	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccttctcccgagccgagcacGaaggtttcagaggaagccga	10	6	12	13	4	2	1	1	0	1	1	3	6	2	2	4	2	3	2	4	2	2	2	rs150684675		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:54886368G>A	ENST00000333896.5	+	30	6667	c.6282G>A	c.(6280-6282)acG>acA	p.T2094T	SPTBN1_ENST00000356805.4_Silent_p.T2107T	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	2107					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AGCCGAGCACGAAGGTTTCAG	0.567													27	154					0	0	1	0	0	A	54886368	G	A	54886368	2	1	234	1	0	0	0	0	0	0	0	1	15175	1045	37	1		1	SPTBN1	2	54886368	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	21072966	54886368	188313005	89	10835											
ARHGAP25	9938	broad.mit.edu	37	chr2	69049673	69049673	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcaaaatggagatctttaaaAatgaattctggtcgccttcc	13	12	8	8	1	2	2	0	1	2	1	4	3	3	2	2	2	0	1	2	2	6	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:69049673A>G	ENST00000295381.3	+	10	1818	c.1399A>G	c.(1399-1401)Aat>Gat	p.N467D	ARHGAP25_ENST00000479844.1_Missense_Mutation_p.N161D|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.N461D|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.N468D|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.N428D|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.N460D	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	467					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						GATCTTTAAAAATGAATTCTG	0.473													18	73					0	0	1	0	0	G	69049673	A	G	69049673	3	3	234	1	0	0	0	0	1	0	0	0	871	14	1	3	1480	3	ARHGAP25	2	69049673	Missense_Mutation	SNP	A	TCGA-J9-A52C-01A-11D-A26M-08	14163305	69049673	174149700	90	10836											
GKN2	200504	broad.mit.edu	37	chr2	69177376	69177376	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cattgccaccattgttgcttGggctgatgatgttaaaaacc	10	13	9	9	0	0	2	0	2	0	0	0	2	0	2	3	1	3	4	3	1	3	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:69177376G>A	ENST00000481498.1	-	3	104	c.86C>T	c.(85-87)cCa>cTa	p.P29L	GKN2_ENST00000328895.4_Missense_Mutation_p.P29L			Q86XP6	GKN2_HUMAN	gastrokine 2	29						extracellular region				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	15						ATTGTTGCTTGGGCTGATGAT	0.353													7	22					0	0	1	0	0	A	69177376	G	A	69177376	3	1	234	1	0	0	0	0	1	0	0	0	6467	1348	47	2	484	2	GKN2	2	69177376	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	127703	69177376	174021997	91	10837											
TET3	200424	broad.mit.edu	37	chr2	74328942	74328942	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgggagctgcacgccaccaCgccgcttaagaagcccaacc	10	3	11	17	4	0	1	0	0	0	1	0	2	0	2	5	1	4	3	5	1	3	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:74328942C>T	ENST00000409262.3	+	9	4622	c.4622C>T	c.(4621-4623)aCg>aTg	p.T1541M		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	1541							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CACGCCACCACGCCGCTTAAG	0.662													10	47					0	0	1	0	0	T	74328942	C	T	74328942	3	4	234	1	0	0	0	0	1	0	0	0	15830	536	19	1	4656	1	TET3	2	74328942	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	5151566	74328942	168870431	92	10838											
RTKN	6242	broad.mit.edu	37	chr2	74655813	74655813	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgcagagaggctgagctGccagacggcaacacacgcta	12	5	12	12	2	1	3	1	1	0	2	1	4	1	3	1	2	4	5	1	2	2	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:74655813G>A	ENST00000305557.5	-	9	1448	c.863C>T	c.(862-864)gCa>gTa	p.A288V	RTKN_ENST00000272430.5_Missense_Mutation_p.A301V|RTKN_ENST00000233330.6_Missense_Mutation_p.A251V	NM_033046.2	NP_149035.1	Q9BST9	RTKN_HUMAN	rhotekin	301					apoptosis|regulation of anti-apoptosis|Rho protein signal transduction	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity			endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						AGGCTGAGCTGCCAGACGGCA	0.627													3	24					0	0	1	0	0	A	74655813	G	A	74655813	3	1	234	1	0	0	0	0	1	0	0	0	13774	1319	46	2	809	2	RTKN	2	74655813	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	326871	74655813	168543560	93	10839											
SEMA4F	10505	broad.mit.edu	37	chr2	74906752	74906752	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtagtgtttgaagttcccGtggctacagctgcgcatgtg	7	12	13	9	2	0	1	0	1	0	0	1	1	1	1	1	1	3	6	1	1	3	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:74906752G>A	ENST00000357877.2	+	14	1878	c.1729G>A	c.(1729-1731)Gtg>Atg	p.V577M	SEMA4F_ENST00000473350.1_3'UTR|SEMA4F_ENST00000339773.5_Missense_Mutation_p.V422M	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	577					cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						TGAAGTTCCCGTGGCTACAGC	0.552													30	193					0	0	1	0	0	A	74906752	G	A	74906752	3	1	234	1	0	0	0	0	1	0	0	0	14089	1145	40	1	1783	1	SEMA4F	2	74906752	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	250939	74906752	168292621	94	10840											
SNRNP200	23020	broad.mit.edu	37	chr2	96963422	96963422	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttccagatctgtgtccattcGagactgacgcactcgctctc	7	12	8	14	3	2	3	0	1	2	2	7	4	4	3	2	0	0	2	2	0	0	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:96963422G>A	ENST00000323853.5	-	10	1233	c.1156C>T	c.(1156-1158)Cga>Tga	p.R386*	SNRNP200_ENST00000349783.5_Nonsense_Mutation_p.R386*	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	386						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						GTGTCCATTCGAGACTGACGC	0.463													6	51					0	0	1	0	0	A	96963422	G	A	96963422	4	1	234	1	0	0	0	0	0	1	0	0	14906	1066	37	1	5398	1	SNRNP200	2	96963422	Nonsense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	22056670	96963422	146235951	95	10841											
AFF3	3899	broad.mit.edu	37	chr2	100170918	100170918	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacggggacagggcgctggcGttggagaggctgccctgaga	7	5	20	9	3	0	2	0	1	0	2	0	6	0	3	1	6	1	3	1	6	0	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:100170918G>A	ENST00000317233.4	-	23	3649	c.3414C>T	c.(3412-3414)aaC>aaT	p.N1138N	AFF3_ENST00000409579.1_Silent_p.N1163N|AFF3_ENST00000356421.2_Silent_p.N1163N|AFF3_ENST00000409236.1_Silent_p.N1138N	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	1138					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GGGCGCTGGCGTTGGAGAGGC	0.637													7	50					0	0	1	0	0	A	100170918	G	A	100170918	2	1	234	1	0	0	0	0	0	0	0	1	357	1136	40	1		1	AFF3	2	100170918	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	3207496	100170918	143028455	96	10842											
IL18RAP	8807	broad.mit.edu	37	chr2	103040431	103040431	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcccttcatgggtagtaaCgacctatctgatgtccaatg	9	12	9	11	1	2	1	1	1	1	0	3	2	3	1	3	1	2	2	3	1	4	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:103040431C>T	ENST00000264260.2	+	4	820	c.231C>T	c.(229-231)aaC>aaT	p.N77N	IL18RAP_ENST00000409369.1_Intron	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	77					cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						TGGGTAGTAACGACCTATCTG	0.438													6	25					0	0	1	0	0	T	103040431	C	T	103040431	2	4	234	1	0	0	0	0	0	0	0	1	7692	535	19	1		1	IL18RAP	2	103040431	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	2869513	103040431	140158942	97	10843											
MFSD9	84804	broad.mit.edu	37	chr2	103335662	103335662	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctccatggaaagaaccaaacGagacctgttaaaatggcatg	16	7	9	9	1	0	2	0	0	0	2	1	4	1	3	3	2	2	2	3	2	5	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:103335662G>A	ENST00000258436.5	-	6	685	c.642C>T	c.(640-642)ctC>ctT	p.L214L		NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	214					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						AGAACCAAACGAGACCTGTTA	0.483													13	80					0	0	1	0	0	A	103335662	G	A	103335662	2	1	234	1	0	0	0	0	0	0	0	1	9589	1045	37	1		1	MFSD9	2	103335662	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	295231	103335662	139863711	98	10844											
ANAPC1	64682	broad.mit.edu	37	chr2	112604725	112604725	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaatcgtacctaactcagaGgtggcaatttcaggaatagt	13	11	9	8	1	3	1	3	0	0	1	4	2	3	2	1	3	2	2	1	3	6	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:112604725G>A	ENST00000341068.3	-	16	2614	c.1842C>T	c.(1840-1842)acC>acT	p.T614T		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	614					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						CTAACTCAGAGGTGGCAATTT	0.328													11	23					0	0	1	0	0	A	112604725	G	A	112604725	2	1	234	1	0	0	0	0	0	0	0	1	594	987	35	2		2	ANAPC1	2	112604725	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	9269063	112604725	130594648	99	10845											
CYP27C1	339761	broad.mit.edu	37	chr2	127956952	127956952	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaggacccccagactcacCgtgtcgacgccggccagcag	10	3	11	17	4	1	1	1	0	0	1	2	3	1	2	5	2	2	1	5	2	1	0	rs138626696		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:127956952C>T	ENST00000335247.7	-	4	682	c.552_splice	c.e4+1	p.T184_splice	CYP27C1_ENST00000409327.1_Splice_Site_p.T184_splice	NM_001001665.3	NP_001001665.3	Q4G0S4	C27C1_HUMAN	cytochrome P450, family 27, subfamily C, polypeptide 1	184						membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		CCAGACTCACCGTGTCGACGC	0.562													10	107					0	0	1	0	0	T	127956952	C	T	127956952	5	4	234	1	0	0	0	0	0	0	1	0	4183	666	23	1	586	1	CYP27C1	2	127956952	Splice_Site	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	15352227	127956952	115242421	100	10846											
HS6ST1	9394	broad.mit.edu	37	chr2	129026305	129026305	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtccgtgccctcgtagcaggGcggcagctcctcaggcgtgg	4	7	16	14	4	1	0	1	0	0	0	4	0	3	0	3	4	3	4	3	4	1	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:129026305G>A	ENST00000259241.6	-	2	680	c.667C>T	c.(667-669)Ccc>Tcc	p.P223S		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	223					heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		TCGTAGCAGGGCGGCAGCTCC	0.657													19	94					0	0	1	0	0	A	129026305	G	A	129026305	3	1	234	1	0	0	0	0	1	0	0	0	7411	1203	42	2	572	2	HS6ST1	2	129026305	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1069353	129026305	114173068	101	10847											
SMPD4	55627	broad.mit.edu	37	chr2	130911013	130911013	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgaactgcctgagctgcGcttcgctgagctgccagaga	7	9	14	11	2	0	4	0	3	0	1	1	5	0	4	2	0	6	4	2	0	1	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:130911013G>A	ENST00000409031.1	-	18	3169	c.2021C>T	c.(2020-2022)gCg>gTg	p.A674V	SMPD4_ENST00000443958.2_Missense_Mutation_p.A338V|SMPD4_ENST00000452225.2_Missense_Mutation_p.A415V|SMPD4_ENST00000351288.6_Missense_Mutation_p.A645V|SMPD4_ENST00000426662.2_Missense_Mutation_p.A310V|SMPD4_ENST00000431183.2_Missense_Mutation_p.A572V|SMPD4_ENST00000339679.7_Missense_Mutation_p.A532V|SMPD4_ENST00000453750.1_Missense_Mutation_p.A423V	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	635					sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	CCTGAGCTGCGCTTCGCTGAG	0.567													14	54					0	0	1	0	0	A	130911013	G	A	130911013	3	1	234	1	0	0	0	0	1	0	0	0	14861	1087	38	1	591	1	SMPD4	2	130911013	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1884708	130911013	112288360	102	10848											
CCDC74A	90557	broad.mit.edu	37	chr2	132290249	132290249	+	Frame_Shift_Del	DEL	C	C	-																															cagatgggggcgggggcacaCcccccaatgatcctgcccct																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:132290249delC	ENST00000295171.6	+	5	909	c.771delC	c.(769-771)cafs	p.H257fs	CCDC74A_ENST00000409856.3_Frame_Shift_Del_p.H191fs|CCDC74A_ENST00000467992.2_3'UTR	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	257										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						CGGGGGCACACCCCCCAATGA	0.602													19	171	---	---	---	---						-	132290249	C	-	132290249	7	5	234	1	0	1	0	1	0	0	0	0	2867	506	18	0	789	0	CCDC74A	2	132290249	Frame_Shift_Del	DEL	C	TCGA-J9-A52C-01A-11D-A26M-08	1379236	132290249	110909124	103	10849											
NCKAP5	344148	broad.mit.edu	37	chr2	133540274	133540274	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagactttggagggatcctCaaaggcaacttacttgggct	10	11	11	9	0	2	1	2	0	0	1	3	3	3	3	1	4	2	2	1	4	3	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:133540274C>T	ENST00000409261.1	-	14	4483	c.4110G>A	c.(4108-4110)ttG>ttA	p.L1370L	NCKAP5_ENST00000317721.6_Silent_p.L1370L|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1370							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GAGGGATCCTCAAAGGCAACT	0.622													12	48					0	0	1	0	0	T	133540274	C	T	133540274	2	4	234	1	0	0	0	0	0	0	0	1	10270	825	29	2		2	NCKAP5	2	133540274	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	1250025	133540274	109659099	104	10850											
LCT	3938	broad.mit.edu	37	chr2	136574943	136574943	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcctgggtcagagatgcCgggagggtgctggccggtgc	5	7	18	11	2	1	1	1	0	0	1	2	3	2	2	3	5	3	1	3	5	0	0	rs147029208		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:136574943C>T	ENST00000264162.2	-	6	1685	c.1675G>A	c.(1675-1677)Ggc>Agc	p.G559S		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	559	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TCAGAGATGCCGGGAGGGTGC	0.552													9	57					0	0	1	0	0	T	136574943	C	T	136574943	3	4	234	1	0	0	0	0	1	0	0	0	8732	652	23	1	4156	1	LCT	2	136574943	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	3034669	136574943	106624430	105	10851											
TANC1	85461	broad.mit.edu	37	chr2	160080827	160080827	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacagagccatcggctgcCggaacacatctgtagtggtg	9	8	14	10	2	1	1	0	0	1	1	2	3	1	3	2	4	3	2	2	4	2	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:160080827C>T	ENST00000263635.6	+	23	4000	c.3763C>T	c.(3763-3765)Cgg>Tgg	p.R1255W	TANC1_ENST00000454300.1_Missense_Mutation_p.R1149W	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1255						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CATCGGCTGCCGGAACACATC	0.597													4	51					0	0	1	0	0	T	160080827	C	T	160080827	3	4	234	1	0	0	0	0	1	0	0	0	15601	643	23	1	3845	1	TANC1	2	160080827	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	23505884	160080827	83118546	106	10852											
DPP4	1803	broad.mit.edu	37	chr2	162875737	162875737	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgacagagctcttacttatAaagattccttcctcctggca	10	14	6	11	0	1	3	0	1	1	2	4	3	4	3	3	1	2	2	3	1	4	6			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:162875737A>G	ENST00000360534.3	-	15	1854	c.1294T>C	c.(1294-1296)Tat>Cat	p.Y432H		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	432					cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	TCTTACTTATAAAGATTCCTT	0.284													11	44					0	0	1	0	0	G	162875737	A	G	162875737	3	3	234	1	0	0	0	0	1	0	0	0	4755	362	13	3	1054	3	DPP4	2	162875737	Missense_Mutation	SNP	A	TCGA-J9-A52C-01A-11D-A26M-08	2794910	162875737	80323636	107	10853											
LRP2	4036	broad.mit.edu	37	chr2	170048428	170048428	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgcaattctgattctcatcGtagccgtcagtacaatccac	10	12	7	12	2	3	1	2	1	2	0	6	1	4	1	2	0	3	3	2	0	4	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:170048428G>A	ENST00000263816.3	-	48	9231	c.8946C>T	c.(8944-8946)taC>taT	p.Y2982Y		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2982	LDL-receptor class A 22.			Y -> H (in Ref. 3; AAB02882).	hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.Y2982Y(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GATTCTCATCGTAGCCGTCAG	0.473													4	60					0	0	1	0	0	A	170048428	G	A	170048428	2	1	234	1	0	0	0	0	0	0	0	1	9001	1140	40	1		1	LRP2	2	170048428	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	7172691	170048428	73150945	108	10854											
HOXD10	3236	broad.mit.edu	37	chr2	176981919	176981919	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgcatgtattctgataagCgcaacaaactcatttcggcc	11	11	8	11	2	2	1	1	1	1	0	3	1	2	1	1	1	4	4	1	1	4	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:176981919C>T	ENST00000249501.4	+	1	613	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C	HOXD10_ENST00000490088.2_Intron	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	120						nucleus	sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		TTCTGATAAGCGCAACAAACT	0.493													24	90					0	0	1	0	0	T	176981919	C	T	176981919	3	4	234	1	0	0	0	0	1	0	0	0	7360	768	27	1	360	1	HOXD10	2	176981919	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	6933491	176981919	66217454	109	10855											
HOXD3	3232	broad.mit.edu	37	chr2	177036519	177036519	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcccctgagcgcagcccaccGctcggcggcgccgctggcca	4	4	13	20	6	0	1	0	1	0	0	2	1	1	1	6	3	2	3	6	3	0	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:177036519G>A	ENST00000468418.3	+	4	2906	c.816G>A	c.(814-816)ccG>ccA	p.P272P	HOXD3_ENST00000410016.1_Silent_p.P272P|HOXD3_ENST00000249440.3_Silent_p.P272P			P31249	HXD3_HUMAN	homeobox D3	272					anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		GCAGCCCACCGCTCGGCGGCG	0.687													7	49					0	0	1	0	0	A	177036519	G	A	177036519	2	1	234	1	0	0	0	0	0	0	0	1	7364	1074	38	1		1	HOXD3	2	177036519	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	54600	177036519	66162854	110	10856											
OSBPL6	114880	broad.mit.edu	37	chr2	179213981	179213981	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgctaccatgtcaccagttCgcttgcattcctccaacccc	7	11	6	17	1	1	0	1	0	0	0	4	0	3	0	6	0	4	4	6	0	2	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:179213981C>T	ENST00000190611.4	+	12	1394	c.1018C>T	c.(1018-1020)Cgc>Tgc	p.R340C	OSBPL6_ENST00000409045.3_Missense_Mutation_p.R309C|OSBPL6_ENST00000392505.2_Missense_Mutation_p.R365C|OSBPL6_ENST00000357080.4_Missense_Mutation_p.R309C|OSBPL6_ENST00000315022.2_Missense_Mutation_p.R344C|OSBPL6_ENST00000359685.3_Missense_Mutation_p.R340C|OSBPL6_ENST00000409631.1_Missense_Mutation_p.R340C	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	340					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			GTCACCAGTTCGCTTGCATTC	0.423													32	146					0	0	1	0	0	T	179213981	C	T	179213981	3	4	234	1	0	0	0	0	1	0	0	0	11328	884	31	1	1178	1	OSBPL6	2	179213981	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	2177462	179213981	63985392	111	10857											
TTN	7273	broad.mit.edu	37	chr2	179588313	179588313	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactagttctctggcacctcTgaaccagttgactttgaatg	9	13	8	11	0	2	3	0	3	2	0	3	3	2	3	2	1	1	3	2	1	3	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:179588313T>G	ENST00000589042.1	-	74	21738	c.21514A>C	c.(21514-21516)Aga>Cga	p.R7172R	TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000591111.1_Silent_p.R6855R|TTN_ENST00000342992.6_Silent_p.R5928R|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6855	Ig-like 53.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGGCACCTCTGAACCAGTTG	0.413													3	18					0	0	1	0	0	G	179588313	T	G	179588313	2	3	234	1	0	0	0	0	0	0	0	1	16797	1588	55	5		5	TTN	2	179588313	Silent	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	374332	179588313	63611060	112	10858											
TTN	7273	broad.mit.edu	37	chr2	179610612	179610612	+	Frame_Shift_Del	DEL	A	A	-																															ccttccaccacctgaaattcAaaaaaactgtctgtgtagtt																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:179610612delA	ENST00000360870.5	-	46	16737	c.16515delT	c.(16513-16515)ttfs	p.F5505fs	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	8982	Ig-like 36.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTGAAATTCAAAAAAACTGT	0.378													9	72	---	---	---	---						-	179610612	A	-	179610612	7	5	234	1	0	1	0	1	0	0	0	0	16797	127	5	0	93782	0	TTN	2	179610612	Frame_Shift_Del	DEL	A	TCGA-J9-A52C-01A-11D-A26M-08	22299	179610612	63588761	113	10859											
SMARCAL1	50485	broad.mit.edu	37	chr2	217297570	217297570	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtggtggtgccatcctcCgtgcgcttcacctgggagca	4	10	14	13	2	1	0	1	0	0	0	3	1	3	1	4	4	3	2	4	4	0	1	rs139469074		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:217297570C>T	ENST00000357276.4	+	8	1794	c.1464C>T	c.(1462-1464)tcC>tcT	p.S488S	SMARCAL1_ENST00000358207.5_Silent_p.S488S	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	488	Helicase ATP-binding.				chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		TGCCATCCTCCGTGCGCTTCA	0.517									Schimke Immuno-Osseous Dysplasia				18	70					0	0	1	0	0	T	217297570	C	T	217297570	2	4	234	1	0	0	0	0	0	0	0	1	14827	639	23	1		1	SMARCAL1	2	217297570	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	37686958	217297570	25901803	114	10860											
EPHA4	2043	broad.mit.edu	37	chr2	222347370	222347370	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccaagttcacagatgtctcGttgacatttgaaatcaagtt	12	14	7	8	1	3	3	2	2	1	1	5	3	4	3	1	0	0	3	1	0	3	4	rs147516232	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:222347370G>A	ENST00000281821.2	-	5	1061	c.1020C>T	c.(1018-1020)aaC>aaT	p.N340N	EPHA4_ENST00000392071.4_Silent_p.N289N|EPHA4_ENST00000409938.1_Silent_p.N340N|EPHA4_ENST00000409854.1_Silent_p.N340N	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	340	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		CAGATGTCTCGTTGACATTTG	0.463													8	66					0	0	1	0	0	A	222347370	G	A	222347370	2	1	234	1	0	0	0	0	0	0	0	1	5197	1136	40	1		1	EPHA4	2	222347370	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	5049800	222347370	20852003	115	10861											
TRIP12	9320	broad.mit.edu	37	chr2	230725184	230725184	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gactgcactttgggtgccttAgaattagattttctactctc	8	16	8	9	0	2	2	0	0	2	2	3	3	2	2	1	1	3	1	1	1	4	6			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:230725184A>G	ENST00000389044.4	-	3	330	c.162T>C	c.(160-162)tcT>tcC	p.S54S	TRIP12_ENST00000389045.3_Intron|TRIP12_ENST00000409677.1_Silent_p.S54S|TRIP12_ENST00000543084.1_Silent_p.S54S|TRIP12_ENST00000283943.5_Intron			Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	34					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TGGGTGCCTTAGAATTAGATT	0.388													7	56					0	0	1	0	0	G	230725184	A	G	230725184	2	3	234	1	0	0	0	0	0	0	0	1	16617	435	15	3		3	TRIP12	2	230725184	Silent	SNP	A	TCGA-J9-A52C-01A-11D-A26M-08	8377814	230725184	12474189	116	10862											
ARMC9	80210	broad.mit.edu	37	chr2	232196543	232196543	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagccgatctggacaaagaCgaactgatccagccccagct	13	5	10	13	2	1	2	0	1	1	1	2	6	2	3	4	1	4	1	4	1	3	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:232196543C>T	ENST00000349938.4	+	20	2006	c.1812C>T	c.(1810-1812)gaC>gaT	p.D604D	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.3	NP_001258395.1|NP_079415.3	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	604							binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		TGGACAAAGACGAACTGATCC	0.562													4	24					0	0	1	0	0	T	232196543	C	T	232196543	2	4	234	1	0	0	0	0	0	0	0	1	957	535	19	1		1	ARMC9	2	232196543	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	1471359	232196543	11002830	117	10863											
B3GNT7	93010	broad.mit.edu	37	chr2	232262921	232262921	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccgcgagcggcagtccgCgggtgggggccgaggcgccg	3	2	23	13	8	0	0	0	0	0	0	1	2	1	0	4	6	1	1	4	6	0	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:232262921C>T	ENST00000287590.5	+	2	752	c.491C>T	c.(490-492)gCg>gTg	p.A164V	B3GNT7_ENST00000479618.1_3'UTR	NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7	164					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		CGGCAGTCCGCGGGTGGGGGC	0.701													4	17					0	0	1	0	0	T	232262921	C	T	232262921	3	4	234	1	0	0	0	0	1	0	0	0	1260	768	27	1	497	1	B3GNT7	2	232262921	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	66378	232262921	10936452	118	10864											
GIGYF2	26058	broad.mit.edu	37	chr2	233710483	233710483	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggcagaataagaaagtagAagaagaagaaaagttgctga	20	5	12	4	1	0	7	0	1	0	6	0	7	0	7	1	1	1	4	1	1	9	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:233710483A>T	ENST00000373566.3	+	27	3610	c.3413A>T	c.(3412-3414)gAa>gTa	p.E1138V	GIGYF2_ENST00000409547.1_Missense_Mutation_p.E1116V|GIGYF2_ENST00000409451.3_Missense_Mutation_p.E1137V|GIGYF2_ENST00000409196.3_Missense_Mutation_p.E1110V|GIGYF2_ENST00000373563.4_Missense_Mutation_p.E1116V|GIGYF2_ENST00000409480.1_Missense_Mutation_p.E1138V			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	1116					cell death		protein binding	p.E1116V(2)|p.E1137V(2)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		AAGAAAGTAGAAGAAGAAGAA	0.378													4	46					0	0	1	0	0	T	233710483	A	T	233710483	3	4	234	1	0	0	0	0	1	0	0	0	6420	246	9	5	3511	5	GIGYF2	2	233710483	Missense_Mutation	SNP	A	TCGA-J9-A52C-01A-11D-A26M-08	1447562	233710483	9488890	119	10865											
NGEF	25791	broad.mit.edu	37	chr2	233757708	233757708	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggtacacaatgtcacacaCgtcagagatgacgatgttct	13	9	9	10	3	3	2	2	1	1	1	3	4	3	2	0	1	1	2	0	1	2	2	rs146544382	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:233757708C>T	ENST00000264051.3	-	7	1320	c.1042G>A	c.(1042-1044)Gtg>Atg	p.V348M	NGEF_ENST00000373552.4_Missense_Mutation_p.V256M|NGEF_ENST00000539537.1_Missense_Mutation_p.V71M	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	348	DH.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		ATGTCACACACGTCAGAGATG	0.587													15	83					0	0	1	0	0	T	233757708	C	T	233757708	3	4	234	1	0	0	0	0	1	0	0	0	10441	536	19	1	1126	1	NGEF	2	233757708	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	47225	233757708	9441665	120	10866											
TRPM8	79054	broad.mit.edu	37	chr2	234846109	234846109	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaggaatttcctaccgacGcctttggggatattcagttt	9	13	9	10	2	1	0	1	0	0	0	2	3	2	2	4	3	1	1	4	3	4	6			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:234846109G>A	ENST00000324695.4	+	4	344	c.304G>A	c.(304-306)Gcc>Acc	p.A102T	TRPM8_ENST00000409625.1_Missense_Mutation_p.A25T|TRPM8_ENST00000433712.2_5'UTR|TRPM8_ENST00000355722.4_Missense_Mutation_p.A52T	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	102						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TCCTACCGACGCCTTTGGGGA	0.478													8	111					0	0	1	0	0	A	234846109	G	A	234846109	3	1	234	1	0	0	0	0	1	0	0	0	16653	1087	38	1	314	1	TRPM8	2	234846109	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1088401	234846109	8353264	121	10867											
SH3BP4	23677	broad.mit.edu	37	chr2	235951365	235951365	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacccgactttccaggaccGcccggtgtccagcctcaagt	7	8	10	16	3	1	0	1	0	0	0	3	2	3	1	6	2	2	1	6	2	2	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:235951365G>A	ENST00000409212.1	+	4	2459	c.1952G>A	c.(1951-1953)cGc>cAc	p.R651H	SH3BP4_ENST00000344528.4_Missense_Mutation_p.R651H|SH3BP4_ENST00000392011.2_Missense_Mutation_p.R651H			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	651					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		TTCCAGGACCGCCCGGTGTCC	0.547													11	70					0	0	1	0	0	A	235951365	G	A	235951365	3	1	234	1	0	0	0	0	1	0	0	0	14300	1087	38	1	1958	1	SH3BP4	2	235951365	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1105256	235951365	7248008	122	10868											
RAB17	64284	broad.mit.edu	37	chr2	238494711	238494711	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccaagctggacttacccacGgagccacttcccaggagaac	11	5	10	15	1	0	1	0	0	0	1	1	4	1	3	4	3	4	1	4	3	3	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:238494711G>A	ENST00000264601.3	-	2	716	c.87C>T	c.(85-87)tcC>tcT	p.S29S	RAB17_ENST00000409822.1_Intron|RAB17_ENST00000409576.1_Intron|RAB17_ENST00000416106.1_5'UTR|RAB17_ENST00000538644.1_5'UTR	NM_022449.3	NP_071894.1	Q9H0T7	RAB17_HUMAN	RAB17, member RAS oncogene family	29					protein transport|small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)	4		Renal(207;0.00272)|Breast(86;0.00297)|all_hematologic(139;0.182)|Ovarian(221;0.221)		Epithelial(121;9.36e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.26e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000354)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.026)		ACTTACCCACGGAGCCACTTC	0.602													16	57					0	0	1	0	0	A	238494711	G	A	238494711	2	1	234	1	0	0	0	0	0	0	0	1	12954	1103	39	1		1	RAB17	2	238494711	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	2543346	238494711	4704662	123	10869											
D2HGDH	728294	broad.mit.edu	37	chr2	242707232	242707232	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggccgggcagcagggcagcGtcagcgcggagcacggagtg	7	2	20	12	6	1	0	1	0	0	0	1	2	1	2	1	5	4	4	1	5	0	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr2:242707232G>A	ENST00000321264.4	+	10	1623	c.1414G>A	c.(1414-1416)Gtc>Atc	p.V472I	D2HGDH_ENST00000403782.1_Missense_Mutation_p.V338I|D2HGDH_ENST00000486953.1_3'UTR	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	472					2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		GCAGGGCAGCGTCAGCGCGGA	0.682													4	25					0	0	1	0	0	A	242707232	G	A	242707232	3	1	234	1	0	0	0	0	1	0	0	0	4237	1145	40	1	1448	1	D2HGDH	2	242707232	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	4212521	242707232	492141	124	10870											
IRAK2	3656	broad.mit.edu	37	chr3	10255194	10255194	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgttcaagtccaggatcaatCgaaagattcttccaggcaga	13	10	9	9	1	3	2	2	0	1	2	6	4	5	3	2	2	0	2	2	2	3	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:10255194C>T	ENST00000256458.4	+	6	840	c.750C>T	c.(748-750)atC>atT	p.I250I		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	250	Protein kinase.				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						CAGGATCAATCGAAAGATTCT	0.463													7	52					0	0	1	0	0	T	10255194	C	T	10255194	2	4	234	1	0	0	0	0	0	0	0	1	7867	874	31	1		1	IRAK2	3	10255194	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08		10255194	187767236	125	10871											
SYN2	6854	broad.mit.edu	37	chr3	12187198	12187198	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccttccggccagacttcGtgctcatccggcagcatgca	6	9	11	15	3	1	1	1	0	0	1	5	1	4	1	4	3	3	4	4	3	0	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:12187198G>A	ENST00000432424.2	+	0	719							Q86VA8	Q86VA8_HUMAN	synapsin II						neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						GCCAGACTTCGTGCTCATCCG	0.527													7	30					0	0	1	0	0	A	12187198	G	A	12187198	1	1	234	0	1	0	0	0	0	0	0	0	15498	1145	40	1		1	SYN2	3	12187198	RNA	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1932004	12187198	185835232	126	10872											
FBLN2	2199	broad.mit.edu	37	chr3	13649582	13649582	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctccaccaaggacctgatcGagacttgctgcgcagccgga	9	6	12	14	3	0	2	0	1	0	1	2	5	1	4	4	2	3	3	4	2	1	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:13649582G>A	ENST00000404922.3	+	3	1446	c.1327G>A	c.(1327-1329)Gag>Aag	p.E443K	FBLN2_ENST00000295760.7_Missense_Mutation_p.E443K|FBLN2_ENST00000535798.1_Missense_Mutation_p.E469K|FBLN2_ENST00000492059.1_Missense_Mutation_p.E443K	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	443	N.|Subdomain NB (Cys-free).					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GGACCTGATCGAGACTTGCTG	0.572													2	2					0	0	1	0	0	A	13649582	G	A	13649582	3	1	234	1	0	0	0	0	1	0	0	0	5732	1059	37	1	23	1	FBLN2	3	13649582	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1462384	13649582	184372848	127	10873											
ZNF385D	79750	broad.mit.edu	37	chr3	21792397	21792398	+	Frame_Shift_Del	DEL	TA	TA	-																															gaacactcaccaaaatacatTatgtttctcattaatcagac																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:21792397_21792398delTA	ENST00000281523.2	-	1	529_530	c.11_12delTA	c.(10-12)afs	p.I4fs	ZNF385D_ENST00000494118.1_Intron	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	4						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						CAAAATACATTATGTTTCTCAT	0.47													10	51	---	---	---	---						-	21792398	TA	-	21792397	7	5	234	1	0	1	0	1	0	0	0	0	17935	1744	61	0	1207	0	ZNF385D	3	21792397	Frame_Shift_Del	DEL	TA	TCGA-J9-A52C-01A-11D-A26M-08	8142815	21792397	176230033	128	10874											
EOMES	8320	broad.mit.edu	37	chr3	27759145	27759145	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtctgtggcacggttctctCgccattataatagcgggctt	6	13	12	10	3	2	0	0	0	2	0	4	0	2	0	1	4	1	3	1	4	3	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:27759145C>T	ENST00000295743.4	-	6	1680	c.1477G>A	c.(1477-1479)Gag>Aag	p.E493K	EOMES_ENST00000537516.1_Missense_Mutation_p.E217K|EOMES_ENST00000449599.1_Missense_Mutation_p.E512K			O95936	EOMES_HUMAN	eomesodermin	493					CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						ACGGTTCTCTCGCCATTATAA	0.572													9	90					0	0	1	0	0	T	27759145	C	T	27759145	3	4	234	1	0	0	0	0	1	0	0	0	5175	893	31	1	587	1	EOMES	3	27759145	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	5966748	27759145	170263285	129	10875											
VILL	50853	broad.mit.edu	37	chr3	38039124	38039124	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcagcctgcgtgccgccAcgcccagcaaggatatcaac	9	5	12	15	3	1	0	1	0	0	0	1	1	1	1	4	2	5	2	4	2	3	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:38039124A>G	ENST00000283713.6	+	7	978	c.712A>G	c.(712-714)Acg>Gcg	p.T238A	VILL_ENST00000465644.1_Intron|VILL_ENST00000383759.2_Missense_Mutation_p.T238A			O15195	VILL_HUMAN	villin-like	238					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GCGTGCCGCCACGCCCAGCAA	0.632													8	54					0	0	1	0	0	G	38039124	A	G	38039124	3	3	234	1	0	0	0	0	1	0	0	0	17225	159	6	3	734	3	VILL	3	38039124	Missense_Mutation	SNP	A	TCGA-J9-A52C-01A-11D-A26M-08	10279979	38039124	159983306	130	10876											
XIRP1	165904	broad.mit.edu	37	chr3	39229797	39229797	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtttcaaatagccacagggtGgagcggacatcaccagggac	12	6	13	10	1	2	0	2	0	0	0	2	3	2	3	2	4	2	1	2	4	2	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:39229797G>A	ENST00000340369.3	-	2	1368	c.1140C>T	c.(1138-1140)tcC>tcT	p.S380S	XIRP1_ENST00000396251.1_Silent_p.S380S|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	380							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GCCACAGGGTGGAGCGGACAT	0.592													27	165					0	0	1	0	0	A	39229797	G	A	39229797	2	1	234	1	0	0	0	0	0	0	0	1	17489	1335	47	2		2	XIRP1	3	39229797	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1190673	39229797	158792633	131	10877											
ZNF660	285349	broad.mit.edu	37	chr3	44636041	44636041	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaatctttcagtggaaagtCacatcttattcggcaccagg	12	11	9	9	1	4	0	2	0	2	0	5	2	4	1	1	3	0	1	1	3	3	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:44636041C>T	ENST00000322734.2	+	3	689	c.356C>T	c.(355-357)tCa>tTa	p.S119L	RP11-944L7.4_ENST00000457331.1_RNA	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	119					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		AGTGGAAAGTCACATCTTATT	0.448													8	31					0	0	1	0	0	T	44636041	C	T	44636041	3	4	234	1	0	0	0	0	1	0	0	0	18127	838	29	2	358	2	ZNF660	3	44636041	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	5406244	44636041	153386389	132	10878											
ALS2CL	259173	broad.mit.edu	37	chr3	46721968	46721968	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggtagcagacacctgcctgGgtgaccatgacccctgggcc	7	7	13	14	0	0	3	0	2	0	1	0	3	0	3	6	3	2	2	6	3	1	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:46721968G>A	ENST00000318962.4	-	14	1583	c.1500C>T	c.(1498-1500)acC>acT	p.T500T	ALS2CL_ENST00000415953.1_Silent_p.T500T	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	500					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		CACCTGCCTGGGTGACCATGA	0.617													17	111					0	0	1	0	0	A	46721968	G	A	46721968	2	1	234	1	0	0	0	0	0	0	0	1	547	1219	43	2		2	ALS2CL	3	46721968	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	2085927	46721968	151300462	133	10879											
CDC25A	993	broad.mit.edu	37	chr3	48200920	48200920	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggggtattcattacccaggcGatctctctctctcacatacc	8	12	7	14	1	4	0	2	0	3	0	7	1	4	0	2	3	2	1	2	3	3	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:48200920G>A	ENST00000302506.3	-	14	1756	c.1348C>T	c.(1348-1350)Cgc>Tgc	p.R450C	CDC25A_ENST00000351231.3_Missense_Mutation_p.R410C	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN	cell division cycle 25A	450	Rhodanese.				cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		TTACCCAGGCGATCTCTCTCT	0.512													11	57					0	0	1	0	0	A	48200920	G	A	48200920	3	1	234	1	0	0	0	0	1	0	0	0	3084	1058	37	1	234	1	CDC25A	3	48200920	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1478952	48200920	149821510	134	10880											
WDR6	11180	broad.mit.edu	37	chr3	49049664	49049664	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcttcagaagaccgaagcGttcgtatctggaaggtgggc	10	8	14	9	3	2	2	1	0	1	2	3	4	2	3	1	3	2	3	1	3	4	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:49049664G>A	ENST00000395474.3	+	2	1067	c.787G>A	c.(787-789)Gtt>Att	p.V263I	WDR6_ENST00000489684.1_3'UTR|WDR6_ENST00000415265.2_Intron|WDR6_ENST00000448293.1_Missense_Mutation_p.V182I	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN	WD repeat domain 6	233					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		AGACCGAAGCGTTCGTATCTG	0.577													24	111					0	0	1	0	0	A	49049664	G	A	49049664	3	1	234	1	0	0	0	0	1	0	0	0	17370	1145	40	1	793	1	WDR6	3	49049664	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	848744	49049664	148972766	135	10881											
LAMB2	3913	broad.mit.edu	37	chr3	49161296	49161296	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaggcacccagcacacccGtctgttgcaactcctgcgcc	9	6	8	18	2	1	0	0	0	1	0	2	0	2	0	4	1	4	4	4	1	2	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:49161296G>A	ENST00000418109.1	-	25	3826	c.3662C>T	c.(3661-3663)aCg>aTg	p.T1221M	LAMB2_ENST00000305544.4_Missense_Mutation_p.T1221M	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1221	Domain II.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAGCACACCCGTCTGTTGCAA	0.632													11	66					0	0	1	0	0	A	49161296	G	A	49161296	3	1	234	1	0	0	0	0	1	0	0	0	8650	1145	40	1	1770	1	LAMB2	3	49161296	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	111632	49161296	148861134	136	10882											
LAMB2	3913	broad.mit.edu	37	chr3	49168460	49168460	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtagcagaagcagttgccacGtacaaccagctcatagaggg	13	6	12	10	1	1	2	1	0	0	2	1	2	1	2	2	1	6	6	2	1	5	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:49168460G>A	ENST00000418109.1	-	8	1002	c.838C>T	c.(838-840)Cgt>Tgt	p.R280C	LAMB2_ENST00000305544.4_Missense_Mutation_p.R280C	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	280	Laminin N-terminal.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAGTTGCCACGTACAACCAGC	0.592													16	65					0	0	1	0	0	A	49168460	G	A	49168460	3	1	234	1	0	0	0	0	1	0	0	0	8650	1145	40	1	4662	1	LAMB2	3	49168460	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	7164	49168460	148853970	137	10883											
SEMA3F	6405	broad.mit.edu	37	chr3	50224121	50224121	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccttgagtgccagccccgctCgccccaagccactgttaagt	7	8	9	17	2	0	1	0	1	0	0	1	1	0	1	7	0	3	2	7	0	2	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:50224121C>T	ENST00000002829.3	+	18	2373	c.1889C>T	c.(1888-1890)tCg>tTg	p.S630L	SEMA3F_ENST00000434342.1_Missense_Mutation_p.S599L|SEMA3F_ENST00000413852.1_Missense_Mutation_p.S531L	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	630	Ig-like C2-type.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		CAGCCCCGCTCGCCCCAAGCC	0.622													5	31					0	0	1	0	0	T	50224121	C	T	50224121	3	4	234	1	0	0	0	0	1	0	0	0	14083	893	31	1	1955	1	SEMA3F	3	50224121	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	1055661	50224121	147798309	138	10884											
IQCF2	389123	broad.mit.edu	37	chr3	51897158	51897158	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agggtgctggagaagaaacgGcaggcagctctgatcgccta	11	6	15	9	2	1	3	0	1	1	2	2	4	1	3	1	4	3	4	1	4	3	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:51897158G>A	ENST00000333127.3	+	3	296	c.267G>A	c.(265-267)cgG>cgA	p.R89R	IQCF2_ENST00000429548.1_3'UTR	NM_203424.1	NP_982248.1	Q8IXL9	IQCF2_HUMAN	IQ motif containing F2	89										endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGAAGAAACGGCAGGCAGCTC	0.612													8	42					0	0	1	0	0	A	51897158	G	A	51897158	2	1	234	1	0	0	0	0	0	0	0	1	7852	1190	42	2		2	IQCF2	3	51897158	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1673037	51897158	146125272	139	10885											
DNAH1	25981	broad.mit.edu	37	chr3	52412624	52412624	+	Frame_Shift_Del	DEL	C	C	-																															tcctattcccccagctggggCcccccacattgcccacttca																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:52412624delC	ENST00000420323.2	+	47	7466	c.7205delC	c.(7204-7206)gcfs	p.A2402fs		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2402	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCAGCTGGGGCCCCCCACATT	0.627													11	187	---	---	---	---						-	52412624	C	-	52412624	7	5	234	1	0	1	0	1	0	0	0	0	4625	739	26	0	7387	0	DNAH1	3	52412624	Frame_Shift_Del	DEL	C	TCGA-J9-A52C-01A-11D-A26M-08	515466	52412624	145609806	140	10886											
PDE12	201626	broad.mit.edu	37	chr3	57545300	57545300	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tattcataggtgggtatattCgcctcattcaaatggcagta	11	14	9	7	1	3	0	3	0	0	0	4	0	3	0	1	3	0	3	1	3	6	8			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:57545300C>T	ENST00000311180.8	+	3	1502	c.1399C>T	c.(1399-1401)Cgc>Tgc	p.R467C	PDE12_ENST00000487257.1_3'UTR	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	467							hydrolase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		TGGGTATATTCGCCTCATTCA	0.328													12	25					0	0	1	0	0	T	57545300	C	T	57545300	3	4	234	1	0	0	0	0	1	0	0	0	11679	884	31	1	1409	1	PDE12	3	57545300	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	5132676	57545300	140477130	141	10887											
PDZRN3	23024	broad.mit.edu	37	chr3	73432601	73432601	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggttaagagttcttggatcGtcatccagttatcgaagatt	10	14	11	6	2	2	2	1	0	1	2	5	4	3	3	1	2	0	3	1	2	3	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:73432601G>A	ENST00000263666.4	-	10	3230	c.3116C>T	c.(3115-3117)aCg>aTg	p.T1039M	PDZRN3_ENST00000479530.1_Missense_Mutation_p.T756M|PDZRN3_ENST00000466780.1_Missense_Mutation_p.T696M|PDZRN3_ENST00000462146.2_Missense_Mutation_p.T696M|PDZRN3_ENST00000535920.1_Missense_Mutation_p.T761M	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	1039							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TTCTTGGATCGTCATCCAGTT	0.433													27	139					0	0	1	0	0	A	73432601	G	A	73432601	3	1	234	1	0	0	0	0	1	0	0	0	11756	1145	40	1	88	1	PDZRN3	3	73432601	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	15887301	73432601	124589829	142	10888											
PDZRN3	23024	broad.mit.edu	37	chr3	73433350	73433350	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccacagccccttcgctgctCgggcagctgatgccctccgc	4	7	10	20	3	0	1	0	1	0	0	3	1	1	1	5	1	4	4	5	1	0	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:73433350C>T	ENST00000263666.4	-	10	2481	c.2367G>A	c.(2365-2367)ccG>ccA	p.P789P	PDZRN3_ENST00000479530.1_Silent_p.P506P|PDZRN3_ENST00000466780.1_Silent_p.P446P|PDZRN3_ENST00000462146.2_Silent_p.P446P|PDZRN3_ENST00000535920.1_Silent_p.P511P	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	789							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CTTCGCTGCTCGGGCAGCTGA	0.647													10	47					0	0	1	0	0	T	73433350	C	T	73433350	2	4	234	1	0	0	0	0	0	0	0	1	11756	871	31	1		1	PDZRN3	3	73433350	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	749	73433350	124589080	143	10889											
PROS1	5627	broad.mit.edu	37	chr3	93624977	93624977	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catggcagaggactacactgGtctggaatggctgaaggaaa	13	7	14	7	0	1	2	0	1	1	1	1	5	1	5	0	6	1	2	0	6	4	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:93624977G>A	ENST00000394236.3	-	5	673	c.357C>T	c.(355-357)gaC>gaT	p.D119D	PROS1_ENST00000407433.1_5'UTR	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	119	EGF-like 1.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	GACTACACTGGTCTGGAATGG	0.358													12	68					0	0	1	0	0	A	93624977	G	A	93624977	2	1	234	1	0	0	0	0	0	0	0	1	12610	1252	44	2		2	PROS1	3	93624977	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	20191627	93624977	104397453	144	10890											
NR1I2	8856	broad.mit.edu	37	chr3	119536021	119536021	+	Frame_Shift_Del	DEL	C	C	-																															acatacacccctttgctacgCccctcatgcaggagttgttc																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:119536021delC	ENST00000393716.2	+	9	3106	c.1267delC	c.(1267-1269)ccfs	p.P423fs	NR1I2_ENST00000466380.1_Frame_Shift_Del_p.P386fs|NR1I2_ENST00000337940.4_Frame_Shift_Del_p.P462fs	NM_003889.3	NP_003880.3	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	423	Ligand-binding.				drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)	CTTTGCTACGCCCCTCATGCA	0.617													22	95	---	---	---	---						-	119536021	C	-	119536021	7	5	234	1	0	1	0	1	0	0	0	0	10668	739	26	0	1418	0	NR1I2	3	119536021	Frame_Shift_Del	DEL	C	TCGA-J9-A52C-01A-11D-A26M-08	25911044	119536021	78486409	145	10891											
KPNA1	3836	broad.mit.edu	37	chr3	122160929	122160929	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacaatgtttcccacagctcGcaaagcaggagaaaccactt	14	7	8	12	1	0	1	0	0	0	1	2	3	1	1	2	1	3	4	2	1	3	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:122160929G>A	ENST00000344337.6	-	10	1128	c.952C>T	c.(952-954)Cga>Tga	p.R318*	KPNA1_ENST00000466923.1_5'UTR	NM_002264.3	NP_002255.3	P52294	IMA1_HUMAN	karyopherin alpha 1 (importin alpha 5)	318	Binding to RAG1.|NLS binding site (minor) (By similarity).				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein binding|protein transporter activity			NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		CCCACAGCTCGCAAAGCAGGA	0.353													13	111					0	0	1	0	0	A	122160929	G	A	122160929	4	1	234	1	0	0	0	0	0	1	0	0	8472	1095	38	1	684	1	KPNA1	3	122160929	Nonsense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	2624908	122160929	75861501	146	10892											
PARP15	165631	broad.mit.edu	37	chr3	122340432	122340432	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgaacagaggaagtacacatCggtttcccttccagccattg	11	10	9	11	1	0	2	0	1	0	1	3	3	2	3	3	2	3	2	3	2	3	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:122340432C>T	ENST00000483793.1	+	6	867	c.827C>T	c.(826-828)tCg>tTg	p.S276L	PARP15_ENST00000310366.4_Missense_Mutation_p.S168L|PARP15_ENST00000493645.1_Missense_Mutation_p.S168L|PARP15_ENST00000464300.2_Missense_Mutation_p.S402L|PARP15_ENST00000465304.1_3'UTR			Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	444	Macro 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		AAGTACACATCGGTTTCCCTT	0.383													11	81					0	0	1	0	0	T	122340432	C	T	122340432	3	4	234	1	0	0	0	0	1	0	0	0	11506	893	31	1	1304	1	PARP15	3	122340432	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	179503	122340432	75681998	147	10893											
SEMA5B	54437	broad.mit.edu	37	chr3	122646834	122646834	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgatcttctcaatagtcCggctgaggttccccacctgg	7	12	9	13	1	2	2	1	2	2	0	5	2	4	2	4	3	0	2	4	3	2	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:122646834C>T	ENST00000195173.4	-	8	956	c.653G>A	c.(652-654)cGg>cAg	p.R218Q	SEMA5B_ENST00000357599.3_Missense_Mutation_p.R218Q|SEMA5B_ENST00000451055.2_Missense_Mutation_p.R272Q			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	218	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CTCAATAGTCCGGCTGAGGTT	0.587													6	41					0	0	1	0	0	T	122646834	C	T	122646834	3	4	234	1	0	0	0	0	1	0	0	0	14092	652	23	1	2866	1	SEMA5B	3	122646834	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	306402	122646834	75375596	148	10894											
MYLK	4638	broad.mit.edu	37	chr3	123426765	123426765	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggggtcaccagctatggcGcaggagatgaggacactctg	11	6	15	9	1	2	2	1	1	1	1	2	4	2	3	1	5	1	2	1	5	2	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:123426765G>A	ENST00000360772.3	-	17	2604	c.2226C>T	c.(2224-2226)tgC>tgT	p.C742C	MYLK_ENST00000475616.1_Silent_p.C742C|MYLK_ENST00000360304.3_Silent_p.C742C|MYLK_ENST00000359169.1_Silent_p.C742C|MYLK_ENST00000346322.5_Silent_p.C673C			Q15746	MYLK_HUMAN	myosin light chain kinase	742	Ig-like C2-type 6.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CAGCTATGGCGCAGGAGATGA	0.577													9	30					0	0	1	0	0	A	123426765	G	A	123426765	2	1	234	1	0	0	0	0	0	0	0	1	10104	1079	38	1		1	MYLK	3	123426765	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	779931	123426765	74595665	149	10895											
KALRN	8997	broad.mit.edu	37	chr3	124132334	124132334	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtgacagcagagctagaCgcctggaatgaagacttgct	12	7	13	9	1	0	5	0	2	0	3	0	6	0	6	1	2	3	3	1	2	3	2	rs149412677		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:124132334C>T	ENST00000360013.3	+	14	2485	c.2358C>T	c.(2356-2358)gaC>gaT	p.D786D	KALRN_ENST00000240874.3_Silent_p.D786D|KALRN_ENST00000460856.1_Silent_p.D786D	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	786					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CAGAGCTAGACGCCTGGAATG	0.532													4	26					0	0	1	0	0	T	124132334	C	T	124132334	2	4	234	1	0	0	0	0	0	0	0	1	8019	535	19	1		1	KALRN	3	124132334	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	705569	124132334	73890096	150	10896											
NPHP3	27031	broad.mit.edu	37	chr3	132403474	132403474	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggagctaatgcacgtctcCgaatatctaaagctctttca	12	11	7	11	2	4	0	1	0	3	0	5	2	4	1	1	1	3	3	1	1	5	4	rs138630766		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:132403474C>T	ENST00000337331.5	-	24	3580	c.3494G>A	c.(3493-3495)cGg>cAg	p.R1165Q	NPHP3_ENST00000326682.8_3'UTR	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	1165					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGCACGTCTCCGAATATCTAA	0.388													3	29					0	0	1	0	0	T	132403474	C	T	132403474	3	4	234	1	0	0	0	0	1	0	0	0	10627	652	23	1	514	1	NPHP3	3	132403474	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	8271140	132403474	65618956	151	10897											
SPSB4	92369	broad.mit.edu	37	chr3	140866040	140866040	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatccgctcggccctgggcCgccagcgcctgcaggacatc	5	5	12	19	4	0	0	0	0	0	0	3	1	1	1	6	3	2	2	6	3	0	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:140866040C>T	ENST00000310546.2	+	3	1495	c.751C>T	c.(751-753)Cgc>Tgc	p.R251C	SPSB4_ENST00000507895.1_3'UTR	NM_080862.1	NP_543138.1	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box containing 4	251	SOCS box.				intracellular signal transduction	cytoplasm	protein binding			biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						GGCCCTGGGCCGCCAGCGCCT	0.617													7	29					0	0	1	0	0	T	140866040	C	T	140866040	3	4	234	1	0	0	0	0	1	0	0	0	15171	652	23	1	757	1	SPSB4	3	140866040	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	8462566	140866040	57156390	152	10898											
ACPL2	92370	broad.mit.edu	37	chr3	141011689	141011689	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccatcggccggatgcagcGtgccaccgagggcaggaaag	11	3	15	12	4	0	0	0	0	0	0	1	3	0	2	4	4	4	2	4	4	2	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:141011689G>A	ENST00000508812.1	+	5	2965	c.1058G>A	c.(1057-1059)cGt>cAt	p.R353H	ACPL2_ENST00000393007.1_Missense_Mutation_p.R346H|ACPL2_ENST00000502783.1_Missense_Mutation_p.R324H|RP11-438D8.2_ENST00000507698.1_RNA|ACPL2_ENST00000504264.1_Missense_Mutation_p.R345H|ACPL2_ENST00000286353.4_Missense_Mutation_p.R362H|ACPL2_ENST00000393010.2_Missense_Mutation_p.R362H			Q8TE99	ACPL2_HUMAN	acid phosphatase-like 2	362						extracellular region	acid phosphatase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						CGGATGCAGCGTGCCACCGAG	0.547													15	77					0	0	1	0	0	A	141011689	G	A	141011689	3	1	234	1	0	0	0	0	1	0	0	0	166	1145	40	1	1103	1	ACPL2	3	141011689	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	145649	141011689	57010741	153	10899											
GPR149	344758	broad.mit.edu	37	chr3	154147110	154147110	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacagaaattggaagtaacCggggacctcgtttggccact	11	8	12	10	2	0	1	0	0	0	1	1	3	0	3	3	4	1	3	3	4	3	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:154147110C>T	ENST00000389740.2	-	1	394	c.295G>A	c.(295-297)Ggt>Agt	p.G99S		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	99						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)			TGGAAGTAACCGGGGACCTCG	0.488													21	77					0	0	1	0	0	T	154147110	C	T	154147110	3	4	234	1	0	0	0	0	1	0	0	0	6694	652	23	1	1916	1	GPR149	3	154147110	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	13135421	154147110	43875320	154	10900											
TTC14	151613	broad.mit.edu	37	chr3	180324131	180324131	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttggaaatagacaaacaaaaCgtggaagctttggtagctcg	15	9	11	6	2	0	1	0	0	0	1	1	3	0	3	0	3	4	3	0	3	7	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:180324131C>T	ENST00000412756.2	+	8	1089	c.1020C>T	c.(1018-1020)aaC>aaT	p.N340N	TTC14_ENST00000382584.4_Silent_p.N340N|TTC14_ENST00000296015.4_Silent_p.N340N	NM_001042601.2	NP_001036066.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	340							RNA binding			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			ACAAACAAAACGTGGAAGCTT	0.363													5	52					0	0	1	0	0	T	180324131	C	T	180324131	2	4	234	1	0	0	0	0	0	0	0	1	16743	535	19	1		1	TTC14	3	180324131	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	26177021	180324131	17698299	155	10901											
MAP3K13	9175	broad.mit.edu	37	chr3	185184670	185184670	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacaaacgacaccctgttcGtcctatcatccatcccaatg	11	10	4	16	2	1	0	1	0	0	0	5	1	4	0	4	0	2	1	4	0	4	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:185184670G>A	ENST00000265026.3	+	10	1896	c.1562G>A	c.(1561-1563)cGt>cAt	p.R521H	MAP3K13_ENST00000446828.1_Missense_Mutation_p.R314H|MAP3K13_ENST00000443863.1_Missense_Mutation_p.R377H|MAP3K13_ENST00000424227.1_Missense_Mutation_p.R521H|MAP3K13_ENST00000535426.1_Missense_Mutation_p.R377H	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	521					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	p.R521H(1)		NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			CACCCTGTTCGTCCTATCATC	0.488													8	54					0	0	1	0	0	A	185184670	G	A	185184670	3	1	234	1	0	0	0	0	1	0	0	0	9297	1145	40	1	1596	1	MAP3K13	3	185184670	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	4860539	185184670	12837760	156	10902											
IL1RAP	0	broad.mit.edu	37	chr3	190322109	190322109	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggagccaattaacttccGcctccccgagaaccgcatta	11	8	8	14	3	0	2	0	1	0	1	2	4	2	3	6	1	3	1	6	1	4	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr3:190322109G>A	ENST00000412504.2	+	3	509	c.257G>A	c.(256-258)cGc>cAc	p.R86H	IL1RAP_ENST00000072516.3_Missense_Mutation_p.R86H|IL1RAP_ENST00000434491.1_Intron|IL1RAP_ENST00000422940.1_Missense_Mutation_p.R86H|IL1RAP_ENST00000443369.2_Missense_Mutation_p.R86H|IL1RAP_ENST00000317757.3_Missense_Mutation_p.R86H|IL1RAP_ENST00000439062.1_Missense_Mutation_p.R86H|IL1RAP_ENST00000422485.1_Missense_Mutation_p.R86H|IL1RAP_ENST00000447382.1_Missense_Mutation_p.R86H			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	86	Ig-like C2-type 1.				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		ATTAACTTCCGCCTCCCCGAG	0.507													15	51					0	0	1	0	0	A	190322109	G	A	190322109	3	1	234	1	0	0	0	0	1	0	0	0	7704	1087	38	1	263	1	IL1RAP	3	190322109	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	5137439	190322109	7700321	157	10903											
GAK	2580	broad.mit.edu	37	chr4	871404	871404	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggctgcagctgcactcaccGcatcttgtcgtactcctggg	5	10	12	14	2	2	0	1	0	1	0	4	0	3	0	2	2	4	6	2	2	1	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:871404G>A	ENST00000314167.4	-	16	1965	c.1856_splice	c.e16+1	p.R619_splice	GAK_ENST00000511163.1_Splice_Site_p.R540_splice	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	619	C2 tensin-type.				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		TGCACTCACCGCATCTTGTCG	0.652													5	39					0	0	1	0	0	A	871404	G	A	871404	5	1	234	1	0	0	0	0	0	0	1	0	6235	1101	38	1	2132	1	GAK	4	871404	Splice_Site	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08		871404	190282872	158	10904											
SPON2	10417	broad.mit.edu	37	chr4	1164338	1164338	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtagtagaaggagttggcCgggtggctgggagaggagga	9	6	23	3	1	0	2	0	0	0	2	0	6	0	5	1	8	0	4	1	8	3	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:1164338C>T	ENST00000290902.5	-	5	995	c.663G>A	c.(661-663)ccG>ccA	p.P221P	SPON2_ENST00000431380.1_Silent_p.P221P	NM_012445.3	NP_036577.1	Q9BUD6	SPON2_HUMAN	spondin 2, extracellular matrix protein	221	Spondin.				axon guidance|cell adhesion|innate immune response	proteinaceous extracellular matrix	metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)		AGGAGTTGGCCGGGTGGCTGG	0.652													4	26					0	0	1	0	0	T	1164338	C	T	1164338	2	4	234	1	0	0	0	0	0	0	0	1	15139	639	23	1		1	SPON2	4	1164338	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	292934	1164338	189989938	159	10905											
FGFR3	2261	broad.mit.edu	37	chr4	1805423	1805423	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctctctctttgtagacggCgggcgctaacaccaccgaca	8	9	10	14	4	2	1	0	0	2	1	3	2	2	1	2	2	2	3	2	2	2	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:1805423C>T	ENST00000440486.2	+	8	1191	c.935C>T	c.(934-936)gCg>gTg	p.A312V	FGFR3_ENST00000352904.1_Intron|FGFR3_ENST00000412135.2_Intron|FGFR3_ENST00000260795.2_Missense_Mutation_p.A312V|FGFR3_ENST00000481110.2_Missense_Mutation_p.A312V|FGFR3_ENST00000340107.4_Intron	NM_000142.4	NP_000133.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	312	Ig-like C2-type 3.				bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	TTGTAGACGGCGGGCGCTAAC	0.612		1	"Mis, T"	"IGH@, ETV6"	"bladder, MM, T-cell lymphoma"		"Hypochondroplasia, Thanatophoric dysplasia"		Saethre-Chotzen syndrome;Muenke syndrome				5	23					0	0	1	0	0	T	1805423	C	T	1805423	3	4	234	1	0	0	0	0	1	0	0	0	5900	768	27	1	1116	1	FGFR3	4	1805423	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	641085	1805423	189348853	160	10906											
ZFYVE28	57732	broad.mit.edu	37	chr4	2273484	2273484	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgcacagtcctccaaggcCgcactccgcagagtctgggt	8	7	12	14	2	1	1	0	0	1	1	4	1	4	1	4	2	1	3	4	2	1	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:2273484C>T	ENST00000290974.2	-	11	2685	c.2346G>A	c.(2344-2346)gcG>gcA	p.A782A	ZFYVE28_ENST00000508471.1_Silent_p.A87A|ZFYVE28_ENST00000511071.1_Silent_p.A752A|ZFYVE28_ENST00000515312.1_Silent_p.A712A	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	782					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						CCTCCAAGGCCGCACTCCGCA	0.627													29	139					0	0	1	0	0	T	2273484	C	T	2273484	2	4	234	1	0	0	0	0	0	0	0	1	17728	639	23	1		1	ZFYVE28	4	2273484	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	468061	2273484	188880792	161	10907											
HTT	3064	broad.mit.edu	37	chr4	3235012	3235012	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggagtgcgacctgctggaCgacactgccaagcagctcat	9	7	12	13	2	1	0	1	0	0	0	1	4	1	2	2	2	5	3	2	2	1	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:3235012C>T	ENST00000355072.5	+	61	8533	c.8388C>T	c.(8386-8388)gaC>gaT	p.D2796D	HTT_ENST00000513806.1_Intron	NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	2796					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		ACCTGCTGGACGACACTGCCA	0.657													27	196					0	0	1	0	0	T	3235012	C	T	3235012	2	4	234	1	0	0	0	0	0	0	0	1	7501	535	19	1		1	HTT	4	3235012	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	961528	3235012	187919264	162	10908											
RGS12	6002	broad.mit.edu	37	chr4	3318863	3318863	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accatgcagacgaatgacgaCgggagcctggcccaggagga	12	3	15	11	3	0	2	0	1	0	1	0	7	0	5	3	4	2	1	3	4	1	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:3318863C>T	ENST00000336727.3	+	2	1870	c.966C>T	c.(964-966)gaC>gaT	p.D322D	RGS12_ENST00000344733.5_Silent_p.D322D|RGS12_ENST00000382788.3_Silent_p.D322D|RGS12_ENST00000543385.1_Silent_p.D322D	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	322	PID.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CGAATGACGACGGGAGCCTGG	0.617													18	108					0	0	1	0	0	T	3318863	C	T	3318863	2	4	234	1	0	0	0	0	0	0	0	1	13345	535	19	1		1	RGS12	4	3318863	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	83851	3318863	187835413	163	10909											
EVC	2121	broad.mit.edu	37	chr4	5755633	5755633	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcctggctgaggcccagccGactgctgacccggaaaagtt	8	8	12	13	2	0	2	0	2	0	0	1	4	1	3	4	3	2	3	4	3	2	2	rs112861104	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:5755633G>A	ENST00000382674.2	+	10	1621	c.1437G>A	c.(1435-1437)ccG>ccA	p.P479P	EVC_ENST00000264956.6_Silent_p.P479P|EVC_ENST00000509451.1_Silent_p.P479P			P57679	EVC_HUMAN	Ellis van Creveld syndrome	479					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				AGGCCCAGCCGACTGCTGACC	0.602													8	39					0	0	1	0	0	A	5755633	G	A	5755633	2	1	234	1	0	0	0	0	0	0	0	1	5313	1045	37	1		1	EVC	4	5755633	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	2436770	5755633	185398643	164	10910											
WFS1	7466	broad.mit.edu	37	chr4	6292992	6292992	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgacctggagagggccgtgCgcaaggcagccctggtcatg	7	5	16	13	3	1	1	1	0	0	1	1	3	1	1	4	4	2	2	4	4	1	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:6292992C>T	ENST00000226760.1	+	5	699	c.529C>T	c.(529-531)Cgc>Tgc	p.R177C	WFS1_ENST00000503569.1_Missense_Mutation_p.R177C	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	177					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		GAGGGCCGTGCGCAAGGCAGC	0.612													13	55					0	0	1	0	0	T	6292992	C	T	6292992	3	4	234	1	0	0	0	0	1	0	0	0	17420	768	27	1	543	1	WFS1	4	6292992	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	537359	6292992	184861284	165	10911											
TBC1D14	57533	broad.mit.edu	37	chr4	6925365	6925365	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcctgtaccctgcagcgcGgtccacgtgaggaggaagca	9	5	15	12	3	0	1	0	1	0	0	1	4	1	3	3	3	5	3	3	3	2	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:6925365G>A	ENST00000409757.4	+	2	373	c.249G>A	c.(247-249)gcG>gcA	p.A83A	TBC1D14_ENST00000448507.1_Silent_p.A83A	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	83						intracellular	Rab GTPase activator activity			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						CCTGCAGCGCGGTCCACGTGA	0.652													19	79					0	0	1	0	0	A	6925365	G	A	6925365	2	1	234	1	0	0	0	0	0	0	0	1	15660	1103	39	1		1	TBC1D14	4	6925365	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	632373	6925365	184228911	166	10912											
GPR125	166647	broad.mit.edu	37	chr4	22389827	22389827	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaactgaacttctaaaggcGccacgtgcattttaatatca	14	11	7	9	2	2	1	1	1	1	0	2	2	2	1	1	1	3	1	1	1	6	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:22389827G>A	ENST00000334304.5	-	19	3736	c.3467C>T	c.(3466-3468)gCg>gTg	p.A1156V	GPR125_ENST00000282943.5_5'UTR	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	1156					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				TTCTAAAGGCGCCACGTGCAT	0.453													5	50					0	0	1	0	0	A	22389827	G	A	22389827	3	1	234	1	0	0	0	0	1	0	0	0	6679	1087	38	1	502	1	GPR125	4	22389827	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	15464462	22389827	168764449	167	10913											
GPR125	166647	broad.mit.edu	37	chr4	22390048	22390048	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catttgggtgcctctccattCgtcccattagagttgggggg	5	13	13	10	1	1	1	0	0	1	1	4	1	2	1	3	4	1	1	3	4	1	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:22390048C>T	ENST00000334304.5	-	19	3515	c.3246G>A	c.(3244-3246)acG>acA	p.T1082T	GPR125_ENST00000282943.5_5'UTR	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	1082					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				CCTCTCCATTCGTCCCATTAG	0.502													5	30					0	0	1	0	0	T	22390048	C	T	22390048	2	4	234	1	0	0	0	0	0	0	0	1	6679	871	31	1		1	GPR125	4	22390048	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	221	22390048	168764228	168	10914											
CCKAR	886	broad.mit.edu	37	chr4	26483360	26483360	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcccccacctctcccctcGcccctgggggaccaggattg	4	7	9	21	1	1	0	0	0	1	0	4	2	2	2	9	3	0	0	9	3	0	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:26483360G>A	ENST00000295589.3	-	5	1381	c.1187C>T	c.(1186-1188)gCg>gTg	p.A396V		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	396					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	CTCTCCCCTCGCCCCTGGGGG	0.627													17	77					0	0	1	0	0	A	26483360	G	A	26483360	3	1	234	1	0	0	0	0	1	0	0	0	2900	1087	38	1	103	1	CCKAR	4	26483360	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	4093312	26483360	164670916	169	10915											
WDR19	57728	broad.mit.edu	37	chr4	39230192	39230193	+	Frame_Shift_Del	DEL	AC	AC	-																															atggagagctgacctgccaaAcacagagtggaaaagtaaac																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:39230192_39230193delAC	ENST00000399820.3	+	17	2018_2019	c.1864_1865delAC	c.(1864-1866)afs	p.T622fs	WDR19_ENST00000288634.7_Frame_Shift_Del_p.T462fs|WDR19_ENST00000515631.1_3'UTR	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	622					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						GACCTGCCAAACACAGAGTGGA	0.441													12	72	---	---	---	---						-	39230193	AC	-	39230192	7	5	234	1	0	1	0	1	0	0	0	0	17339	43	2	0	1930	0	WDR19	4	39230192	Frame_Shift_Del	DEL	AC	TCGA-J9-A52C-01A-11D-A26M-08	12746832	39230192	151924084	170	10916											
CEP135	9662	broad.mit.edu	37	chr4	56840987	56840987	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgagacaggtcaccttctcGtttagatacatttctgaaag	11	13	8	9	2	3	3	1	1	2	2	5	4	3	3	1	1	1	1	1	1	3	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:56840987G>A	ENST00000257287.4	+	11	1449	c.1325G>A	c.(1324-1326)cGt>cAt	p.R442H		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	442					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					TCACCTTCTCGTTTAGATACA	0.373													4	38					0	0	1	0	0	A	56840987	G	A	56840987	3	1	234	1	0	0	0	0	1	0	0	0	3269	1145	40	1	1363	1	CEP135	4	56840987	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	17610795	56840987	134313289	171	10917											
TMPRSS11D	9407	broad.mit.edu	37	chr4	68691458	68691458	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttgagcttacctgacatgCgtccactccaccttgaggta	8	12	8	13	1	1	3	0	3	1	0	3	3	3	3	4	1	3	2	4	1	2	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:68691458C>T	ENST00000283916.6	-	9	1185	c.1087G>A	c.(1087-1089)Gca>Aca	p.A363T	RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000545541.1_Missense_Mutation_p.A246T	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	363	Peptidase S1.				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						ACCTGACATGCGTCCACTCCA	0.403													4	21					0	0	1	0	0	T	68691458	C	T	68691458	3	4	234	1	0	0	0	0	1	0	0	0	16301	768	27	1	177	1	TMPRSS11D	4	68691458	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	11850471	68691458	122462818	172	10918											
PDHA2	5161	broad.mit.edu	37	chr4	96761273	96761273	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcggtcgttacgggacgccGctgccatctacagcactccg	6	7	13	15	6	1	0	0	0	1	0	3	1	2	1	3	3	4	3	3	3	2	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:96761273G>A	ENST00000295266.4	+	0	35					NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2						glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	ACGGGACGCCGCTGCCATCTA	0.637													3	4					0	0	1	0	0	A	96761273	G	A	96761273	1	1	234	1	0	0	0	0	0	0	0	0	11712	1102	38	1		1	PDHA2	4	96761273	Translation_Start_Site	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	28069815	96761273	94393003	173	10919											
FAT4	79633	broad.mit.edu	37	chr4	126411235	126411235	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctgtgcattaatcagtggTatgcctacaggtgtgtccct	7	14	11	9	0	1	0	1	0	0	0	2	0	2	0	2	2	4	3	2	2	3	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:126411235T>C	ENST00000394329.3	+	17	13271	c.13258T>C	c.(13258-13260)Tat>Cat	p.Y4420H	FAT4_ENST00000335110.5_Missense_Mutation_p.Y2661H	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4420					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TAATCAGTGGTATGCCTACAG	0.577													23	129					0	0	1	0	0	C	126411235	T	C	126411235	3	2	234	1	0	0	0	0	1	0	0	0	5725	1638	57	3	13324	3	FAT4	4	126411235	Missense_Mutation	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	29649962	126411235	64743041	174	10920											
ARHGAP10	79658	broad.mit.edu	37	chr4	148886179	148886179	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attttttttttggaagaaagCggcagcccagaatctcgtgt	10	14	10	7	2	1	2	0	0	1	2	2	3	1	3	1	2	2	1	1	2	3	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:148886179C>T	ENST00000336498.3	+	17	1694	c.1455C>T	c.(1453-1455)agC>agT	p.S485S	ARHGAP10_ENST00000414545.2_Silent_p.S134S	NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN	Rho GTPase activating protein 10	485	Rho-GAP.				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		tGGAAGAAAGCGGCAGCCCAG	0.308													4	14					0	0	1	0	0	T	148886179	C	T	148886179	2	4	234	1	0	0	0	0	0	0	0	1	859	767	27	1		1	ARHGAP10	4	148886179	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	22474944	148886179	42268097	175	10921											
TDO2	6999	broad.mit.edu	37	chr4	156825203	156825203	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaactccccgtagaaggcagCgaagaagacaaatcacaaac	19	3	8	11	2	1	3	1	0	0	3	2	4	2	3	2	1	3	2	2	1	7	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:156825203C>T	ENST00000536354.2	+	2	133	c.69C>T	c.(67-69)agC>agT	p.S23S		NM_005651.3	NP_005642.1	P48775	T23O_HUMAN	tryptophan 2,3-dioxygenase	23					tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	L-Tryptophan(DB00150)	TAGAAGGCAGCGAAGAAGACA	0.393													4	30					0	0	1	0	0	T	156825203	C	T	156825203	2	4	234	1	0	0	0	0	0	0	0	1	15786	767	27	1		1	TDO2	4	156825203	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	7939024	156825203	34329073	176	10922											
AADAT	51166	broad.mit.edu	37	chr4	170987609	170987609	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccagtattgcatccttctggTtactatagaaatcaataacc	13	13	5	10	0	2	1	1	0	1	1	3	1	3	1	3	1	3	3	3	1	7	7			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:170987609T>C	ENST00000337664.4	-	10	1259	c.983A>G	c.(982-984)aAc>aGc	p.N328S	AADAT_ENST00000509167.1_Missense_Mutation_p.N332S|AADAT_ENST00000353187.2_Missense_Mutation_p.N328S|AADAT_ENST00000515480.1_Missense_Mutation_p.N328S	NM_016228.3	NP_057312.1	Q8N5Z0	AADAT_HUMAN	aminoadipate aminotransferase	328					2-oxoglutarate metabolic process|biosynthetic process|glutamate metabolic process|lysine catabolic process	mitochondrial matrix	2-aminoadipate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1)	11		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	ATCCTTCTGGTTACTATAGAA	0.403													9	29					0	0	1	0	0	C	170987609	T	C	170987609	3	2	234	1	0	0	0	0	1	0	0	0	14	1725	60	3	310	3	AADAT	4	170987609	Missense_Mutation	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	14162406	170987609	20166667	177	10923											
CCDC111	0	broad.mit.edu	37	chr4	185593424	185593424	+	Frame_Shift_Del	DEL	T	T	-																															acaggccatggatttccccaTttttcagaagcacctgcaag																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr4:185593424delT	ENST00000314970.6	+	7	1087	c.654delT	c.(652-654)cafs	p.H218fs	CCDC111_ENST00000512834.1_Frame_Shift_Del_p.H218fs|CCDC111_ENST00000515774.1_Frame_Shift_Del_p.H89fs|CCDC111_ENST00000503752.1_Frame_Shift_Del_p.H218fs	NM_152683.2	NP_689896.1	Q96LW4	CC111_HUMAN		218					DNA replication, synthesis of RNA primer		DNA primase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(2)	16		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.00531)|Hepatocellular(41;0.00932)|Renal(120;0.0246)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|all_neural(102;0.131)		all cancers(43;5.84e-27)|Epithelial(43;2.2e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.28e-11)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.03e-05)|Colorectal(24;7.57e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000249)|COAD - Colon adenocarcinoma(29;0.000502)|LUSC - Lung squamous cell carcinoma(40;0.00995)|READ - Rectum adenocarcinoma(43;0.173)		GATTTCCCCATTTTTCAGAAG	0.408													9	64	---	---	---	---						-	185593424	T	-	185593424	7	5	234	1	0	1	0	1	0	0	0	0	2766	1490	52	0	672	0	CCDC111	4	185593424	Frame_Shift_Del	DEL	T	TCGA-J9-A52C-01A-11D-A26M-08	14605815	185593424	5560852	178	10924											
AHRR	57491	broad.mit.edu	37	chr5	428070	428070	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagatgaaaatgaggagcgCgctcctgagggcaaaaccca	14	4	14	9	2	0	4	0	3	0	1	1	6	1	5	2	3	2	2	2	3	4	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:428070C>T	ENST00000316418.5	+	9	967	c.923C>T	c.(922-924)gCg>gTg	p.A308V	AHRR_ENST00000512529.1_Missense_Mutation_p.A136V|AHRR_ENST00000506456.1_Missense_Mutation_p.A146V|AHRR_ENST00000505113.1_Missense_Mutation_p.A290V	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	290					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			ATGAGGAGCGCGCTCCTGAGG	0.652													5	27					0	0	1	0	0	T	428070	C	T	428070	3	4	234	1	0	0	0	0	1	0	0	0	414	768	27	1	957	1	AHRR	5	428070	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08		428070	180487190	179	10925											
DNAH5	1767	broad.mit.edu	37	chr5	13839629	13839629	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccatgggactcttgatatgCatatgacactgaaattcaaa	14	12	7	8	0	2	3	1	3	1	0	3	4	3	4	1	1	1	1	1	1	4	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:13839629C>T	ENST00000265104.4	-	35	5822	c.5718G>A	c.(5716-5718)atG>atA	p.M1906I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1906	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCTTGATATGCATATGACACT	0.353									Kartagener syndrome				7	33					0	0	1	0	0	T	13839629	C	T	13839629	3	4	234	1	0	0	0	0	1	0	0	0	4632	710	25	2	8336	2	DNAH5	5	13839629	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	13411559	13839629	167075631	180	10926											
TRIO	7204	broad.mit.edu	37	chr5	14504649	14504649	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctccagcaccccctgcttgtCggcctcctcgacacctttga	5	10	7	19	2	0	1	0	1	0	0	4	2	2	1	6	1	2	2	6	1	0	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:14504649C>T	ENST00000344204.4	+	55	8583	c.8559C>T	c.(8557-8559)gtC>gtT	p.V2853V	TRIO_ENST00000344135.5_Silent_p.V352V|TRIO_ENST00000537187.1_Silent_p.V2677V	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2853	Protein kinase.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	p.V2853V(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CCCTGCTTGTCGGCCTCCTCG	0.587													43	233					0	0	1	0	0	T	14504649	C	T	14504649	2	4	234	1	0	0	0	0	0	0	0	1	16613	871	31	1		1	TRIO	5	14504649	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	665020	14504649	166410611	181	10927											
PDE4D	5144	broad.mit.edu	37	chr5	59064275	59064275	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttcgttcagccacgggtttgGacaatgcggattatccactt	8	13	10	10	3	1	0	1	0	0	0	3	2	2	2	2	3	2	2	2	3	2	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:59064275G>A	ENST00000507116.1	-	1	196	c.61C>T	c.(61-63)Cca>Tca	p.P21S	PDE4D_ENST00000340635.6_Intron|PDE4D_ENST00000502484.2_Intron|PDE4D_ENST00000502575.1_Missense_Mutation_p.P21S|PDE4D_ENST00000546160.1_Intron	NM_001197218.1	NP_001184147.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	0					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	CACGGGTTTGGACAATGCGGA	0.498													11	96					0	0	1	0	0	A	59064275	G	A	59064275	3	1	234	1	0	0	0	0	1	0	0	0	11689	1189	41	2		2	PDE4D	5	59064275	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	44559626	59064275	121850985	182	10928											
HTR1A	3350	broad.mit.edu	37	chr5	63256285	63256285	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactcctccgtcatcactggCggcagaacttacacttaatg	10	11	7	13	2	2	1	2	0	0	1	4	1	4	1	2	2	3	1	2	2	4	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:63256285C>T	ENST00000323865.3	-	1	1495	c.1262G>A	c.(1261-1263)cGc>cAc	p.R421H	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	421					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	TCATCACTGGCGGCAGAACTT	0.483													31	142					0	0	1	0	0	T	63256285	C	T	63256285	3	4	234	1	0	0	0	0	1	0	0	0	7480	768	27	1	9	1	HTR1A	5	63256285	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	4192010	63256285	117658975	183	10929											
ADAMTS6	11174	broad.mit.edu	37	chr5	64748629	64748629	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taccaatgtctccacaaaccGttcaatgctcactgatctct	11	12	4	14	1	4	1	2	1	2	0	6	1	4	1	3	0	3	2	3	0	4	2	rs148384415		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:64748629G>A	ENST00000536360.1	-	5	1561	c.748C>T	c.(748-750)Cgg>Tgg	p.R250W				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	250	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		TCCACAAACCGTTCAATGCTC	0.418													16	64					0	0	1	0	0	A	64748629	G	A	64748629	3	1	234	1	0	0	0	0	1	0	0	0	269	1144	40	1	2689	1	ADAMTS6	5	64748629	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1492344	64748629	116166631	184	10930											
PIK3R1	5295	broad.mit.edu	37	chr5	67588988	67588988	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacctttttggtacgagatgCgtctactaaaatgcatggtg	10	13	11	7	2	1	1	0	0	1	1	1	3	1	1	1	2	4	2	1	2	4	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:67588988C>T	ENST00000521381.1	+	9	1695	c.1079C>T	c.(1078-1080)gCg>gTg	p.A360V	PIK3R1_ENST00000320694.8_Missense_Mutation_p.A60V|PIK3R1_ENST00000336483.5_Missense_Mutation_p.A90V|PIK3R1_ENST00000396611.1_Missense_Mutation_p.A360V|PIK3R1_ENST00000274335.5_Missense_Mutation_p.A360V|PIK3R1_ENST00000523872.1_5'UTR|PIK3R1_ENST00000521657.1_Missense_Mutation_p.A360V	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	360	SH2 1.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	GTACGAGATGCGTCTACTAAA	0.368			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			3	24					0	0	1	0	0	T	67588988	C	T	67588988	3	4	234	1	0	0	0	0	1	0	0	0	11966	768	27	1	1239	1	PIK3R1	5	67588988	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	2840359	67588988	113326272	185	10931											
F2R	2149	broad.mit.edu	37	chr5	76028839	76028839	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgctcaatgaaaccctgctCgaaggctactatgcctacta	11	10	8	12	1	1	1	1	1	0	0	2	2	1	1	2	1	6	3	2	1	7	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:76028839C>T	ENST00000319211.4	+	2	1054	c.789C>T	c.(787-789)ctC>ctT	p.L263L		NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN	coagulation factor II (thrombin) receptor	263					activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network	receptor binding|thrombin receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	AAACCCTGCTCGAAGGCTACT	0.507													4	58					0	0	1	0	0	T	76028839	C	T	76028839	2	4	234	1	0	0	0	0	0	0	0	1	5371	871	31	1		1	F2R	5	76028839	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	8439851	76028839	104886421	186	10932											
SLCO4C1	353189	broad.mit.edu	37	chr5	101576467	101576467	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tattcccaaggctagggaccGttgtctgtgattaacacacc	10	11	9	11	1	1	1	0	1	1	0	2	2	2	2	3	2	1	2	3	2	4	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:101576467G>A	ENST00000310954.6	-	11	2117	c.1831C>T	c.(1831-1833)Cgg>Tgg	p.R611W		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	611					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GCTAGGGACCGTTGTCTGTGA	0.338													18	67					0	0	1	0	0	A	101576467	G	A	101576467	3	1	234	1	0	0	0	0	1	0	0	0	14785	1144	40	1	355	1	SLCO4C1	5	101576467	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	25547628	101576467	79338793	187	10933											
TRIM36	55521	broad.mit.edu	37	chr5	114466495	114466495	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcaagcagaagattaaaTccagctctactctctacacg	14	8	7	12	1	2	2	0	0	2	2	4	2	3	2	1	0	5	4	1	0	6	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:114466495T>A	ENST00000513154.1	-	9	1916	c.1590A>T	c.(1588-1590)ggA>ggT	p.G530G	TRIM36_ENST00000514154.1_Silent_p.G387G|TRIM36_ENST00000282369.3_Silent_p.G542G			Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	542	B30.2/SPRY.					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		GAAGATTAAATCCAGCTCTAC	0.398													10	53					0	0	1	0	0	A	114466495	T	A	114466495	2	1	234	1	0	0	0	0	0	0	0	1	16571	1422	50	5		5	TRIM36	5	114466495	Silent	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	12890028	114466495	66448765	188	10934											
DMXL1	1657	broad.mit.edu	37	chr5	118487710	118487710	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caacttcccttccagcctatCgagctcaactccttcaccaa	10	10	3	18	1	2	0	2	0	0	0	6	1	5	0	5	0	4	1	5	0	4	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:118487710C>T	ENST00000311085.8	+	19	4761	c.4681C>T	c.(4681-4683)Cga>Tga	p.R1561*	DMXL1_ENST00000539542.1_Nonsense_Mutation_p.R1561*	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1561										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TCCAGCCTATCGAGCTCAACT	0.383													5	46					0	0	1	0	0	T	118487710	C	T	118487710	4	4	234	1	0	0	0	0	0	1	0	0	4622	876	31	1	4755	1	DMXL1	5	118487710	Nonsense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	4021215	118487710	62427550	189	10935											
PHF15	0	broad.mit.edu	37	chr5	133896555	133896555	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggctgggcatcgagtacgacGaggatgttgtctgcgacgtg	7	9	17	8	5	1	0	0	0	1	0	2	5	1	1	0	3	2	4	0	3	1	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:133896555G>A	ENST00000395003.1	+	6	771	c.592G>A	c.(592-594)Gag>Aag	p.E198K	PHF15_ENST00000402835.1_Missense_Mutation_p.E198K|PHF15_ENST00000361895.2_Missense_Mutation_p.E198K|PHF15_ENST00000282605.4_Missense_Mutation_p.E198K	NM_015288.4	NP_056103.4	Q9NQC1	JADE2_HUMAN		198					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CGAGTACGACGAGGATGTTGT	0.592													11	53					0	0	1	0	0	A	133896555	G	A	133896555	3	1	234	1	0	0	0	0	1	0	0	0	11874	1059	37	1	610	1	PHF15	5	133896555	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	15408845	133896555	47018705	190	10936											
KLHL3	26249	broad.mit.edu	37	chr5	136969760	136969760	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgggtgctcatgtccgccacGtatatccattcattggtcgc	6	12	10	13	4	2	0	2	0	0	0	5	0	4	0	3	2	1	2	3	2	2	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:136969760G>A	ENST00000508657.1	-	12	2034	c.1320C>T	c.(1318-1320)taC>taT	p.Y440Y	KLHL3_ENST00000309755.4_Silent_p.Y472Y|KLHL3_ENST00000541417.1_Intron|KLHL3_ENST00000506873.1_5'UTR|KLHL3_ENST00000506491.1_Silent_p.Y390Y	NM_001257194.1	NP_001244123.1	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	472						cytoplasm|cytoskeleton	actin binding|structural molecule activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		TGTCCGCCACGTATATCCATT	0.537													13	83					0	0	1	0	0	A	136969760	G	A	136969760	2	1	234	1	0	0	0	0	0	0	0	1	8426	1140	40	1		1	KLHL3	5	136969760	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	3073205	136969760	43945500	191	10937											
KDM3B	51780	broad.mit.edu	37	chr5	137727927	137727927	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagcaggcccccaagggccGgcctcggactgcccccctga	7	3	13	18	2	0	1	0	1	0	0	1	3	0	2	7	4	2	1	7	4	2	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:137727927G>A	ENST00000314358.5	+	8	2806	c.2606G>A	c.(2605-2607)cGg>cAg	p.R869Q	KDM3B_ENST00000394866.1_Missense_Mutation_p.R525Q|KDM3B_ENST00000542866.1_Intron	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	869					chromatin modification|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			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						CCCAAGGGCCGGCCTCGGACT	0.607													8	52					0	0	1	0	0	A	137727927	G	A	137727927	3	1	234	1	0	0	0	0	1	0	0	0	8171	1116	39	1	2636	1	KDM3B	5	137727927	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	758167	137727927	43187333	192	10938											
PCDHA5	0	broad.mit.edu	37	chr5	140203082	140203082	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagtgggtggcaccggcggCgcagtgagcgagctggtgcc	5	5	20	11	5	0	1	0	1	0	0	0	3	0	1	2	5	3	3	2	5	0	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:140203082C>T	ENST00000529859.1	+	1	1722	c.1722C>T	c.(1720-1722)ggC>ggT	p.G574G	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Silent_p.G574G|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000378126.3_Silent_p.G574G	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACCGGCGGCGCAGTGAGCG	0.682													8	99					0	0	1	0	0	T	140203082	C	T	140203082	2	4	234	1	0	0	0	0	0	0	0	1	11574	755	27	1		1	PCDHA5	5	140203082	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	2475155	140203082	40712178	193	10939											
PCDHA8	0	broad.mit.edu	37	chr5	140222184	140222184	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctatgagttggtggtaacCgcgcgggacgggggctcgcc	5	7	18	11	5	0	1	0	1	0	0	1	2	0	2	3	5	1	3	3	5	2	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:140222184C>T	ENST00000531613.1	+	1	1278	c.1278C>T	c.(1276-1278)acC>acT	p.T426T	PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000378123.3_Silent_p.T426T|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTGGTAACCGCGCGGGACG	0.637													22	135					0	0	1	0	0	T	140222184	C	T	140222184	2	4	234	1	0	0	0	0	0	0	0	1	11577	639	23	1		1	PCDHA8	5	140222184	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	19102	140222184	40693076	194	10940											
PCDHAC2	0	broad.mit.edu	37	chr5	140348548	140348548	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcatcatcaagtgctacCgctacactgcgtatggcact	10	10	9	12	2	2	1	2	1	0	0	2	1	2	1	1	1	5	5	1	1	4	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:140348548C>T	ENST00000289269.5	+	1	2729	c.2197C>T	c.(2197-2199)Cgc>Tgc	p.R733C	PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		733					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAGTGCTACCGCTACACTGC	0.408													8	27					0	0	1	0	0	T	140348548	C	T	140348548	3	4	234	1	0	0	0	0	1	0	0	0	11580	652	23	1	2199	1	PCDHAC2	5	140348548	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	126364	140348548	40566712	195	10941											
PCDHB7	0	broad.mit.edu	37	chr5	140552513	140552513	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctggcgccgaaccgcttcggTattttgtggcggaggaaacc	7	9	14	11	5	0	0	0	0	0	0	1	3	0	2	3	5	2	2	3	5	3	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:140552513T>C	ENST00000231137.3	+	1	271	c.97T>C	c.(97-99)Tat>Cat	p.Y33H		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		33					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCGCTTCGGTATTTTGTGGC	0.517													11	42					0	0	1	0	0	C	140552513	T	C	140552513	3	2	234	1	0	0	0	0	1	0	0	0	11594	1638	57	3	99	3	PCDHB7	5	140552513	Missense_Mutation	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	203965	140552513	40362747	196	10942											
PCDHGB2	0	broad.mit.edu	37	chr5	140741805	140741805	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccttggccttgatctcagtGctcttcttcctcgcggtgat	3	15	10	13	2	3	2	1	2	3	0	6	2	4	2	3	2	1	1	3	2	0	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:140741805G>A	ENST00000522605.1	+	1	2103	c.2103G>A	c.(2101-2103)gtG>gtA	p.V701V	PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGATCTCAGTGCTCTTCTTCC	0.577													21	67					0	0	1	0	0	A	140741805	G	A	140741805	2	1	234	1	0	0	0	0	0	0	0	1	11610	1306	46	2		2	PCDHGB2	5	140741805	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	189292	140741805	40173455	197	10943											
PCDHGA5	0	broad.mit.edu	37	chr5	140744399	140744399	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgggtgtgaactctctcCggagttaccagctcagctcc	7	11	11	12	1	2	1	1	1	1	0	5	2	4	2	3	2	4	3	3	2	2	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:140744399C>T	ENST00000518069.1	+	1	502	c.502C>T	c.(502-504)Cgg>Tgg	p.R168W	PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAACTCTCTCCGGAGTTACCA	0.512													3	26					0	0	1	0	0	T	140744399	C	T	140744399	3	4	234	1	0	0	0	0	1	0	0	0	11604	643	23	1	504	1	PCDHGA5	5	140744399	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	2594	140744399	40170861	198	10944											
PCDHGB3	0	broad.mit.edu	37	chr5	140751254	140751254	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accgacaaaggcaatccaccGctctcctccagcaagaccat	13	5	6	17	2	1	1	0	0	1	1	4	2	3	1	6	1	1	3	6	1	3	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:140751254G>A	ENST00000576222.1	+	1	1424	c.1293G>A	c.(1291-1293)ccG>ccA	p.P431P	PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAATCCACCGCTCTCCTCCA	0.527													40	118					0	0	1	0	0	A	140751254	G	A	140751254	2	1	234	1	0	0	0	0	0	0	0	1	11611	1074	38	1		1	PCDHGB3	5	140751254	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	6855	140751254	40164006	199	10945											
PCDHGA7	0	broad.mit.edu	37	chr5	140764615	140764615	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tactgctggcgctcaggctgCggcgctggcacaagtcacgc	6	7	14	14	4	2	0	2	0	0	0	2	0	2	0	0	4	3	5	0	4	2	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:140764615C>T	ENST00000518325.1	+	1	2149	c.2149C>T	c.(2149-2151)Cgg>Tgg	p.R717W	PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCAGGCTGCGGCGCTGGCA	0.617													7	46					0	0	1	0	0	T	140764615	C	T	140764615	3	4	234	1	0	0	0	0	1	0	0	0	11606	759	27	1	2151	1	PCDHGA7	5	140764615	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	13361	140764615	40150645	200	10946											
PCDHGB6	0	broad.mit.edu	37	chr5	140789375	140789375	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgctcacgctgcaggcccgcGaccacggctcgcccacgctc	5	4	11	21	7	1	0	1	0	0	0	3	1	1	0	3	2	1	5	3	2	0	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:140789375G>A	ENST00000520790.1	+	1	1606	c.1606G>A	c.(1606-1608)Gac>Aac	p.D536N	PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1														breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGGCCCGCGACCACGGCTC	0.687													3	22					0	0	1	0	0	A	140789375	G	A	140789375	3	1	234	1	0	0	0	0	1	0	0	0	11614	1058	37	1	1608	1	PCDHGB6	5	140789375	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	24760	140789375	40125885	201	10947											
ABLIM3	22885	broad.mit.edu	37	chr5	148586656	148586656	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cacgtcagctgcttcaagtgCcagacctgcagcgtcatcct	8	9	9	15	2	3	1	3	0	0	1	4	1	4	1	3	0	5	3	3	0	1	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:148586656C>T	ENST00000506113.1	+	5	1016	c.534C>T	c.(532-534)tgC>tgT	p.C178C	ABLIM3_ENST00000504238.1_Silent_p.C178C|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000508983.1_Silent_p.C178C|ABLIM3_ENST00000326685.7_Silent_p.C178C|ABLIM3_ENST00000309868.7_Silent_p.C178C|ABLIM3_ENST00000356541.3_Silent_p.C178C|RP11-331K21.1_ENST00000512647.2_RNA			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	178	LIM zinc-binding 3.				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTTCAAGTGCCAGACCTGCA	0.622													10	40					0	0	1	0	0	T	148586656	C	T	148586656	2	4	234	1	0	0	0	0	0	0	0	1	96	747	26	2		2	ABLIM3	5	148586656	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	7797281	148586656	32328604	202	10948											
CSF1R	1436	broad.mit.edu	37	chr5	149460505	149460505	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccattccacgctgccattGcccacacatcgcaaggtcac	9	8	6	18	2	1	0	1	0	0	0	4	0	3	0	4	1	2	2	4	1	1	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:149460505G>A	ENST00000286301.3	-	3	423	c.132C>T	c.(130-132)ggC>ggT	p.G44G	CSF1R_ENST00000543093.1_Silent_p.G44G	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	44	Ig-like C2-type 1.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	CGCTGCCATTGCCCACACATC	0.592													8	46					0	0	1	0	0	A	149460505	G	A	149460505	2	1	234	1	0	0	0	0	0	0	0	1	3957	1306	46	2		2	CSF1R	5	149460505	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	873849	149460505	31454755	203	10949											
PDGFRB	5159	broad.mit.edu	37	chr5	149514471	149514471	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcttctcgtgcagtgtcAccaccagctgtgggtctgtt	4	15	10	12	1	4	0	1	0	3	0	5	0	4	0	2	1	2	3	2	1	0	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:149514471A>G	ENST00000261799.4	-	4	942	c.473T>C	c.(472-474)gTg>gCg	p.V158A		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	158	Ig-like C2-type 2.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTGCAGTGTCACCACCAGCTG	0.498			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"								15	70					0	0	1	0	0	G	149514471	A	G	149514471	3	3	234	1	0	0	0	0	1	0	0	0	11709	159	6	3	2927	3	PDGFRB	5	149514471	Missense_Mutation	SNP	A	TCGA-J9-A52C-01A-11D-A26M-08	53966	149514471	31400789	204	10950											
NDST1	3340	broad.mit.edu	37	chr5	149915319	149915319	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgccccaccactcgggcgtgTaccccgtgcacgtgcagctg	5	6	12	18	5	0	0	0	0	0	0	1	0	0	0	5	1	4	4	5	1	1	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:149915319T>C	ENST00000261797.6	+	6	1811	c.1309T>C	c.(1309-1311)Tac>Cac	p.Y437H	NDST1_ENST00000523767.1_Missense_Mutation_p.Y437H	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	437	Heparan sulfate N-deacetylase 1.				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCGGGCGTGTACCCCGTGCA	0.642													13	48					0	0	1	0	0	C	149915319	T	C	149915319	3	2	234	1	0	0	0	0	1	0	0	0	10302	1638	57	3	1327	3	NDST1	5	149915319	Missense_Mutation	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	400848	149915319	30999941	205	10951											
CYFIP2	26999	broad.mit.edu	37	chr5	156746769	156746769	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttggcctcttcctgcccaGgtgatcgccatgatcaaagg	7	10	10	14	1	2	2	1	2	1	0	4	2	3	2	5	3	1	0	5	3	1	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:156746769G>T	ENST00000347377.6	+	14	1787		c.e14-1		CYFIP2_ENST00000522463.1_Splice_Site|CYFIP2_ENST00000541131.1_Splice_Site|CYFIP2_ENST00000442283.2_Splice_Site|CYFIP2_ENST00000435847.2_Splice_Site|CYFIP2_ENST00000377576.3_Splice_Site|CYFIP2_ENST00000318218.6_Splice_Site|CYFIP2_ENST00000521420.1_Splice_Site	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2						apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTCCTGCCCAGGTGATCGCCA	0.597													5	24					1.23904e-05	1.25109e-05	1	1	0	T	156746769	G	T	156746769	5	4	234	1	0	0	0	0	0	0	1	0	4161	1014	35	4	1406	4	CYFIP2	5	156746769	Splice_Site	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	6831450	156746769	24168491	206	10952											
WWC1	23286	broad.mit.edu	37	chr5	167868736	167868736	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgccggtctggggagaggtCgactcgctggtacaaccttc	6	9	14	12	3	1	1	0	0	1	1	4	3	1	1	2	5	3	2	2	5	2	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:167868736C>T	ENST00000265293.4	+	16	2832	c.2330C>T	c.(2329-2331)tCg>tTg	p.S777L	WWC1_ENST00000522140.1_3'UTR|WWC1_ENST00000521089.1_Missense_Mutation_p.S777L	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	777	C2.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GGGGAGAGGTCGACTCGCTGG	0.607													7	47					0	0	1	0	0	T	167868736	C	T	167868736	3	4	234	1	0	0	0	0	1	0	0	0	17471	893	31	1	2392	1	WWC1	5	167868736	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	11121967	167868736	13046524	207	10953											
SLIT3	6586	broad.mit.edu	37	chr5	168244341	168244341	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcttctgcacatccgccaCgttgaagcccctcaaatgca	9	10	6	16	2	3	1	1	1	2	0	4	1	4	1	4	0	3	3	4	0	2	3	rs143627388		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:168244341C>T	ENST00000519560.1	-	8	1176	c.757G>A	c.(757-759)Gtg>Atg	p.V253M	SLIT3_ENST00000404867.3_Missense_Mutation_p.V253M|SLIT3_ENST00000332966.8_Missense_Mutation_p.V253M	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	253	LRRCT 1.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACATCCGCCACGTTGAAGCCC	0.597													4	44					0	0	1	0	0	T	168244341	C	T	168244341	3	4	234	1	0	0	0	0	1	0	0	0	14795	536	19	1	3930	1	SLIT3	5	168244341	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	375605	168244341	12670919	208	10954											
RUFY1	80230	broad.mit.edu	37	chr5	179025750	179025750	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagacaggctcttcagcgCgaattacagcacgagaaaga	16	5	10	10	3	2	3	1	0	1	3	2	5	2	3	0	1	3	2	0	1	4	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:179025750C>T	ENST00000319449.4	+	14	1701	c.1689C>T	c.(1687-1689)cgC>cgT	p.R563R	RUFY1_ENST00000393438.2_Silent_p.R455R|RP11-1379J22.2_ENST00000500262.1_RNA|RUFY1_ENST00000437570.2_Silent_p.R455R|RUFY1_ENST00000377001.2_3'UTR	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	563					endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCTTCAGCGCGAATTACAGC	0.478										HNSCC(44;0.11)			15	99					0	0	1	0	0	T	179025750	C	T	179025750	2	4	234	1	0	0	0	0	0	0	0	1	13790	755	27	1		1	RUFY1	5	179025750	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	10781409	179025750	1889510	209	10955											
C5orf45	51149	broad.mit.edu	37	chr5	179264647	179264647	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcccttgcttagcctgtgctGgaccagctggcctggggtcc	3	11	13	14	0	0	0	0	0	0	0	2	1	2	1	5	4	4	3	5	4	1	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr5:179264647G>A	ENST00000292586.6	-	7	866	c.776C>T	c.(775-777)cCa>cTa	p.P259L	C5orf45_ENST00000376931.2_Missense_Mutation_p.P204L|C5orf45_ENST00000520698.1_Intron|C5orf45_ENST00000403396.2_Intron|SQSTM1_ENST00000389805.4_3'UTR|C5orf45_ENST00000523267.1_5'UTR|C5orf45_ENST00000523084.1_Missense_Mutation_p.P125L|C5orf45_ENST00000518219.1_3'UTR|C5orf45_ENST00000518235.1_Intron|SQSTM1_ENST00000376929.3_3'UTR	NM_016175.3	NP_057259.2	Q6NTE8	CE045_HUMAN	chromosome 5 open reading frame 45	259										breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						AGCCTGTGCTGGACCAGCTGG	0.602													7	41					0	0	1	0	0	A	179264647	G	A	179264647	3	1	234	1	0	0	0	0	1	0	0	0	2319	1348	47	2	259	2	C5orf45	5	179264647	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	238897	179264647	1650613	210	10956											
FOXC1	2296	broad.mit.edu	37	chr6	1612173	1612173	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggcggccgcaggctaccCgggccagcagcagaacttcc	7	3	15	16	4	0	1	0	0	0	1	1	1	1	1	4	5	4	4	4	5	2	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:1612173C>T	ENST00000380874.2	+	1	1493	c.1493C>T	c.(1492-1494)cCg>cTg	p.P498L		NM_001453.2	NP_001444.2	Q12948	FOXC1_HUMAN	forkhead box C1	498					anti-apoptosis|artery morphogenesis|blood vessel remodeling|brain development|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|germ cell migration|glycosaminoglycan metabolic process|lacrimal gland development|lymphangiogenesis|metanephros development|negative regulation of mitotic cell cycle|neural crest cell fate commitment|Notch signaling pathway|odontogenesis of dentine-containing tooth|ossification|ovarian follicle development|paraxial mesodermal cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	nuclear heterochromatin|transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)		GCAGGCTACCCGGGCCAGCAG	0.657													2	2					0	0	1	0	0	T	1612173	C	T	1612173	3	4	234	1	0	0	0	0	1	0	0	0	6027	652	23	1	1495	1	FOXC1	6	1612173	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08		1612173	169502894	211	10957											
PRPF4B	8899	broad.mit.edu	37	chr6	4032804	4032806	+	In_Frame_Del	DEL	AAG	AAG	-																															agacctggtcgtagtcctaaAagaagaagtttgtctccaaa																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:4032804_4032806delAAG	ENST00000337659.6	+	2	1153_1155	c.1053_1055delAAG	c.(1051-1056)aaa>aa	p.KR351del	PRPF4B_ENST00000538861.1_In_Frame_Del_p.KR337del	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	351	Arg/Lys-rich (basic).					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				GTAGTCCTAAAAGAAGAAGTTTG	0.414													14	81	---	---	---	---						-	4032806	AAG	-	4032804	7	5	234	1	0	1	0	1	0	0	0	0	12625	11	1	0	1059	0	PRPF4B	6	4032804	In_Frame_Del	DEL	AAG	TCGA-J9-A52C-01A-11D-A26M-08	2420631	4032804	167082263	212	10958											
GFOD1	54438	broad.mit.edu	37	chr6	13365808	13365808	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttgcccatgatgctcatgaGcttggggtagtagtgggcgg	6	11	17	7	1	1	2	1	2	0	0	1	2	1	2	1	4	3	5	1	4	2	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:13365808G>A	ENST00000379287.3	-	2	1004	c.340C>T	c.(340-342)Ctc>Ttc	p.L114F	GFOD1_ENST00000379284.1_Missense_Mutation_p.L11F	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain containing 1	114						extracellular region	binding|oxidoreductase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			ATGCTCATGAGCTTGGGGTAG	0.652													22	138					0	0	1	0	0	A	13365808	G	A	13365808	3	1	234	1	0	0	0	0	1	0	0	0	6385	971	34	2	836	2	GFOD1	6	13365808	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	9333004	13365808	157749259	213	10959											
GMPR	2766	broad.mit.edu	37	chr6	16254791	16254791	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttggtttattttggtgcAgaatgtagccgtgagttcag	7	17	12	5	1	2	2	1	1	1	1	2	2	2	2	1	2	2	4	1	2	3	8			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:16254791A>G	ENST00000259727.4	+	4	405		c.e4-1			NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN	guanosine monophosphate reductase						nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold	cytosol	GMP reductase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				ATTTTGGTGCAGAATGTAGCC	0.468													7	57					0	0	1	0	0	G	16254791	A	G	16254791	5	3	234	1	0	0	0	0	0	0	1	0	6538	202	7	3	304	3	GMPR	6	16254791	Splice_Site	SNP	A	TCGA-J9-A52C-01A-11D-A26M-08	2888983	16254791	154860276	214	10960											
GMPR	2766	broad.mit.edu	37	chr6	16279025	16279025	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctgtgcaggttctgtgtgCaccacccgcaccaagacggg	7	8	12	14	2	2	1	0	0	2	1	2	1	2	1	3	2	2	4	3	2	1	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:16279025C>T	ENST00000259727.4	+	6	672	c.558C>T	c.(556-558)tgC>tgT	p.C186C		NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN	guanosine monophosphate reductase	186					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold	cytosol	GMP reductase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				GTTCTGTGTGCACCACCCGCA	0.547													5	51					0	0	1	0	0	T	16279025	C	T	16279025	2	4	234	1	0	0	0	0	0	0	0	1	6538	718	25	2		2	GMPR	6	16279025	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	24234	16279025	154836042	215	10961											
KIF13A	63971	broad.mit.edu	37	chr6	17800327	17800327	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaacacgcatcacttccacGtggagacgccctgcaacctg	10	7	9	15	3	1	1	1	0	0	1	2	2	2	1	3	1	3	3	3	1	2	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:17800327G>A	ENST00000378814.5	-	21	2471	c.2472C>T	c.(2470-2472)caC>caT	p.H824H	KIF13A_ENST00000259711.6_Silent_p.H824H|KIF13A_ENST00000378826.2_Silent_p.H824H|KIF13A_ENST00000378816.5_Silent_p.H824H|KIF13A_ENST00000378843.2_Silent_p.H824H	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	824					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TCACTTCCACGTGGAGACGCC	0.542													8	36					0	0	1	0	0	A	17800327	G	A	17800327	2	1	234	1	0	0	0	0	0	0	0	1	8316	1136	40	1		1	KIF13A	6	17800327	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1521302	17800327	153314740	216	10962											
KAAG1	353219	broad.mit.edu	37	chr6	24357937	24357937	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaagcacgctcttcacgacGggctgagacaggtggctgga	10	6	14	11	3	2	1	1	1	1	1	2	4	2	2	0	4	1	4	0	4	1	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:24357937G>A	ENST00000274766.1	+	1	807	c.70G>A	c.(70-72)Ggg>Agg	p.G24R	DCDC2_ENST00000378454.3_Silent_p.P14P	NM_181337.3	NP_851854.1	Q9UBP8	KAAG1_HUMAN	kidney associated antigen 1	24					immune response					central_nervous_system(1)|lung(1)|prostate(1)	3						TCTTCACGACGGGCTGAGACA	0.667													12	73					0	0	1	0	0	A	24357937	G	A	24357937	3	1	234	1	0	0	0	0	1	0	0	0	8017	1116	39	1	72	1	KAAG1	6	24357937	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	6557610	24357937	146757130	217	10963											
HIST1H3B	8358	broad.mit.edu	37	chr6	26031878	26031878	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgaaaaagtgactttacatTtacgctctttctccgcgaat	12	14	6	9	3	2	2	0	2	2	0	3	3	2	2	1	0	2	1	1	0	5	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:26031878T>C	ENST00000244661.2	-	1	410	c.411A>G	c.(409-411)taA>taG	p.*137*		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	0					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						GACTTTACATTTACGCTCTTT	0.438													10	44					0	0	1	0	0	C	26031878	T	C	26031878	2	2	234	1	0	0	0	0	0	0	0	1	7197	1848	64	3		3	HIST1H3B	6	26031878	Silent	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	1673941	26031878	145083189	218	10964											
HIST1H2AH	85235	broad.mit.edu	37	chr6	27115008	27115008	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgggccgagtgcaccgccTgctccgcaagggtaattatg	7	8	14	12	4	0	0	0	0	0	0	1	1	1	0	4	2	2	4	4	2	3	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:27115008T>C	ENST00000377459.1	+	1	148	c.101T>C	c.(100-102)cTg>cCg	p.L34P		NM_080596.1	NP_542163.1	Q96KK5	H2A1H_HUMAN	histone cluster 1, H2ah	34					nucleosome assembly	nucleosome|nucleus	DNA binding	p.L34R(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|prostate(1)|skin(1)	12						GTGCACCGCCTGCTCCGCAAG	0.652													9	48					0	0	1	0	0	C	27115008	T	C	27115008	3	2	234	1	0	0	0	0	1	0	0	0	7175	1580	55	3	103	3	HIST1H2AH	6	27115008	Missense_Mutation	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	1083130	27115008	144000059	219	10965											
ABCF1	23	broad.mit.edu	37	chr6	30550275	30550276	+	Frame_Shift_Ins	INS	-	-	A																															aaaaggagaagaaaaagctgINSaaaaaacaggtaagaccttg																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:30550275_30550276insA	ENST00000326195.8	+	9	895_896	c.783_784insA	c.(781-786)ctaaaafs	p.LK261fs	ABCF1_ENST00000376545.3_Intron|ABCF1_ENST00000396515.4_Intron	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	261					inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						AGAAAAAGCTGAAAAAACAGGT	0.45													14	46	---	---	---	---						A	30550276	-	A	30550275	7	5	234	1	0	1	1	0	0	0	0	0	65	1277	45	0	817	0	ABCF1	6	30550275	Frame_Shift_Ins	INS	-	TCGA-J9-A52C-01A-11D-A26M-08	3435267	30550275	140564792	220	10966											
DHX16	8449	broad.mit.edu	37	chr6	30627570	30627570	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgggtcacatggatctgcaaCacagatactacacaagcttc	13	9	8	11	0	2	1	1	0	1	1	3	2	2	2	0	2	5	2	0	2	4	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:30627570C>T	ENST00000376442.3	-	11	1992	c.1797G>A	c.(1795-1797)gtG>gtA	p.V599V	DHX16_ENST00000480966.1_5'UTR|DHX16_ENST00000376437.5_Silent_p.V118V	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	599	Helicase C-terminal.				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			kidney(2)|ovary(2)	4						GGATCTGCAACACAGATACTA	0.562													8	36					0	0	1	0	0	T	30627570	C	T	30627570	2	4	234	1	0	0	0	0	0	0	0	1	4530	465	17	2		2	DHX16	6	30627570	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	77295	30627570	140487497	221	10967											
TAP1	6890	broad.mit.edu	37	chr6	32814903	32814903	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catccaggataagtacacacGgtttccggatcaatgctcgg	11	9	10	11	3	1	0	1	0	0	0	4	2	3	2	2	4	2	3	2	4	3	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:32814903G>A	ENST00000354258.4	-	10	2323	c.2162C>T	c.(2161-2163)cCg>cTg	p.P721L	TAP1_ENST00000425148.2_Missense_Mutation_p.P460L|PSMB9_ENST00000395330.1_Intron	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	721	ABC transporter.				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						AAGTACACACGGTTTCCGGAT	0.557													16	78					0	0	1	0	0	A	32814903	G	A	32814903	3	1	234	1	0	0	0	0	1	0	0	0	15607	1116	39	1	272	1	TAP1	6	32814903	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	2187333	32814903	138300164	222	10968											
SLC39A7	7922	broad.mit.edu	37	chr6	33171401	33171401	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgaaggaggagcagtgggCagtgaaattgcaggtggtgc	11	7	18	5	0	0	2	0	2	0	0	0	4	0	4	0	5	3	3	0	5	2	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:33171401C>T	ENST00000374677.3	+	7	1594	c.1221C>T	c.(1219-1221)ggC>ggT	p.G407G	SLC39A7_ENST00000374675.3_Silent_p.G407G|SLC39A7_ENST00000463972.1_3'UTR	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	407				CALLTEGGAVGSEIAGGAGPGWVLPFTAGGFIYVATVSVLP ELLREASPLQSLLEVLGLLGGVIMMVLIAHLE -> VPFSL KEEQWTVKLQVVQVLAGSCHLLQVALST (in Ref. 1; BAA11528 and 2; AAD12305).		endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						GAGCAGTGGGCAGTGAAATTG	0.567													5	77					0	0	1	0	0	T	33171401	C	T	33171401	2	4	234	1	0	0	0	0	0	0	0	1	14678	697	25	2		2	SLC39A7	6	33171401	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	356498	33171401	137943666	223	10969											
VPS52	6293	broad.mit.edu	37	chr6	33236870	33236870	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcctggcgatttcgaagtcGaatgttcatggctcctgact	7	13	11	10	3	1	1	1	1	0	0	4	4	2	1	2	2	1	2	2	2	2	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:33236870G>A	ENST00000445902.2	-	6	687	c.469C>T	c.(469-471)Cga>Tga	p.R157*	VPS52_ENST00000436044.2_Nonsense_Mutation_p.R32*|VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000482399.1_3'UTR	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	157					protein transport	endosome membrane|Golgi apparatus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						TTTCGAAGTCGAATGTTCATG	0.537													24	107					0	0	1	0	0	A	33236870	G	A	33236870	4	1	234	1	0	0	0	0	0	1	0	0	17274	1066	37	1	1762	1	VPS52	6	33236870	Nonsense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	65469	33236870	137878197	224	10970											
PHF1	5252	broad.mit.edu	37	chr6	33383810	33383810	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accctgtccgggtccttgctCggagagtacggcctgatggc	5	9	14	13	3	0	2	0	1	0	1	3	3	2	2	4	4	2	2	4	4	1	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:33383810C>T	ENST00000374516.3	+	15	1910	c.1639C>T	c.(1639-1641)Cgg>Tgg	p.R547W	PHF1_ENST00000374512.3_3'UTR	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	547					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				GGTCCTTGCTCGGAGAGTACG	0.632													19	115					0	0	1	0	0	T	33383810	C	T	33383810	3	4	234	1	0	0	0	0	1	0	0	0	11868	875	31	1	1693	1	PHF1	6	33383810	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	146940	33383810	137731257	225	10971											
TULP1	7287	broad.mit.edu	37	chr6	35471598	35471598	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgcccgttgtcaaagacCgtgaagcggttccccaggag	8	9	12	12	3	2	2	1	1	1	1	3	3	3	3	4	2	2	2	4	2	2	3	rs145986072		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:35471598C>T	ENST00000229771.6	-	12	1219	c.1140G>A	c.(1138-1140)acG>acA	p.T380T	TULP1_ENST00000322263.4_Silent_p.T327T	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	380					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						TGTCAAAGACCGTGAAGCGGT	0.612													5	15					0	0	1	0	0	T	35471598	C	T	35471598	2	4	234	1	0	0	0	0	0	0	0	1	16835	639	23	1		1	TULP1	6	35471598	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	2087788	35471598	135643469	226	10972											
BRPF3	27154	broad.mit.edu	37	chr6	36181863	36181863	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagggaatgagcctttgcaaCgcttgctcagtgacaatggc	10	10	12	9	1	1	2	1	2	0	0	1	3	1	3	1	2	4	3	1	2	4	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:36181863C>T	ENST00000357641.6	+	8	2942	c.2689C>T	c.(2689-2691)Cgc>Tgc	p.R897C	BRPF3_ENST00000534400.1_Missense_Mutation_p.R897C|BRPF3_ENST00000339717.7_Intron|BRPF3_ENST00000443324.2_Intron|BRPF3_ENST00000534694.1_Intron|BRPF3_ENST00000543502.1_Intron	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	897					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						GCCTTTGCAACGCTTGCTCAG	0.537													16	101					0	0	1	0	0	T	36181863	C	T	36181863	3	4	234	1	0	0	0	0	1	0	0	0	1523	536	19	1	2715	1	BRPF3	6	36181863	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	710265	36181863	134933204	227	10973											
C6orf222	389384	broad.mit.edu	37	chr6	36298375	36298375	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagccaatggcagtcccaCgactccgagcctttcccggg	8	6	12	15	3	0	1	0	0	0	1	3	4	3	1	5	2	2	1	5	2	1	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:36298375C>T	ENST00000437635.2	-	2	270	c.93G>A	c.(91-93)tcG>tcA	p.S31S		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	31										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						GGCAGTCCCACGACTCCGAGC	0.647													6	105					0	0	1	0	0	T	36298375	C	T	36298375	2	4	234	1	0	0	0	0	0	0	0	1	2370	523	19	1		1	C6orf222	6	36298375	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	116512	36298375	134816692	228	10974											
USP49	25862	broad.mit.edu	37	chr6	41774068	41774068	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgaggcagccgggcccgcGtcgcggggcgtgtgcaggag	4	3	21	13	8	0	0	0	0	0	0	1	2	0	1	2	5	2	2	2	5	0	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:41774068G>A	ENST00000394253.3	-	3	983	c.654C>T	c.(652-654)gaC>gaT	p.D218D	USP49_ENST00000373006.1_Silent_p.D218D|USP49_ENST00000373009.3_Silent_p.D218D|USP49_ENST00000373010.1_Silent_p.D218D|USP49_ENST00000297229.2_Silent_p.D218D			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	218					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			ccgggcccgcgtcgcggggcg	0.771													3	20					0	0	1	0	0	A	41774068	G	A	41774068	2	1	234	1	0	0	0	0	0	0	0	1	17140	1136	40	1		1	USP49	6	41774068	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	5475693	41774068	129340999	229	10975											
TTBK1	84630	broad.mit.edu	37	chr6	43221327	43221327	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccggaacctggccgacctgCgccgtagccagccgcgaggc	6	3	15	17	6	0	0	0	0	0	0	0	3	0	1	7	3	4	1	7	3	2	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:43221327C>T	ENST00000259750.4	+	5	435	c.352C>T	c.(352-354)Cgc>Tgc	p.R118C	TTBK1_ENST00000304139.5_Missense_Mutation_p.R67C	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	118	Protein kinase.					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			GGCCGACCTGCGCCGTAGCCA	0.627													10	30					0	0	1	0	0	T	43221327	C	T	43221327	3	4	234	1	0	0	0	0	1	0	0	0	16738	768	27	1	366	1	TTBK1	6	43221327	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	1447259	43221327	127893740	230	10976											
VEGFA	7422	broad.mit.edu	37	chr6	43748503	43748503	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaagggaaaggggcaaaaaCgaaagcgcaagaaatcccgg	19	1	14	7	3	0	1	0	0	0	1	1	4	1	2	1	4	2	2	1	4	7	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:43748503C>T	ENST00000425836.2	+	6	997	c.997C>T	c.(997-999)Cga>Tga	p.R333*	VEGFA_ENST00000372055.4_Nonsense_Mutation_p.R333*|VEGFA_ENST00000523125.1_Intron|VEGFA_ENST00000520948.1_Nonsense_Mutation_p.R153*|VEGFA_ENST00000372067.3_Intron|VEGFA_ENST00000518689.1_Nonsense_Mutation_p.R153*|VEGFA_ENST00000523873.1_Nonsense_Mutation_p.R153*|VEGFA_ENST00000417285.2_Intron|VEGFA_ENST00000372064.4_Intron|VEGFA_ENST00000518824.1_Intron|VEGFA_ENST00000482630.2_Intron|VEGFA_ENST00000523950.1_Intron|VEGFA_ENST00000230480.6_Intron|VEGFA_ENST00000413642.3_Nonsense_Mutation_p.R333*|VEGFA_ENST00000457104.2_Intron|VEGFA_ENST00000372077.4_Intron|VEGFA_ENST00000324450.6_Intron			P15692	VEGFA_HUMAN	vascular endothelial growth factor A	153					basophil chemotaxis|cellular response to hypoxia|induction of positive chemotaxis|platelet activation|platelet degranulation|platelet-derived growth factor receptor signaling pathway|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cell adhesion|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of leukocyte migration|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular permeability|regulation of cell shape|vascular endothelial growth factor receptor signaling pathway|vasculogenesis	cell surface|extracellular space|membrane|platelet alpha granule lumen	cell surface binding|chemoattractant activity|cytokine activity|fibronectin binding|growth factor activity|heparin binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|vascular endothelial growth factor receptor 1 binding|vascular endothelial growth factor receptor 2 binding|vascular endothelial growth factor receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		Atorvastatin(DB01076)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Simvastatin(DB00641)	GGGGCAAAAACGAAAGCGCAA	0.532													11	72					0	0	1	0	0	T	43748503	C	T	43748503	4	4	234	1	0	0	0	0	0	1	0	0	17210	528	19	1	1019	1	VEGFA	6	43748503	Nonsense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	527176	43748503	127366564	231	10977											
GPR115	221393	broad.mit.edu	37	chr6	47682266	47682266	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaagccacagtgtggtccCgggtggttgtgacggagata	8	10	16	7	2	0	3	0	2	0	1	1	4	1	3	2	4	1	1	2	4	2	3	rs145102054		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:47682266C>T	ENST00000283303.2	+	6	1543	c.1285C>T	c.(1285-1287)Cgg>Tgg	p.R429W	GPR115_ENST00000371220.1_Missense_Mutation_p.R486W|GPR115_ENST00000327753.3_Missense_Mutation_p.R429W	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	429					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						AGTGTGGTCCCGGGTGGTTGT	0.493													16	69					0	0	1	0	0	T	47682266	C	T	47682266	3	4	234	1	0	0	0	0	1	0	0	0	6672	643	23	1	1303	1	GPR115	6	47682266	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	3933763	47682266	123432801	232	10978											
HCRTR2	3062	broad.mit.edu	37	chr6	55039411	55039411	+	Frame_Shift_Del	DEL	C	C	-																															cggcaccaaattggaggactCccccccttgtcgcaactggt																								rs76774128		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:55039411delC	ENST00000370862.3	+	1	362	c.26delC	c.(25-27)tcfs	p.S9fs		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	9					feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.P11fs*11(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TTGGAGGACTCCCCCCCTTGT	0.567													30	139	---	---	---	---						-	55039411	C	-	55039411	7	5	234	1	0	1	0	1	0	0	0	0	7043	855	30	0	28	0	HCRTR2	6	55039411	Frame_Shift_Del	DEL	C	TCGA-J9-A52C-01A-11D-A26M-08	7357145	55039411	116075656	233	10979											
BMP5	653	broad.mit.edu	37	chr6	55684477	55684477	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgtattccttgatgattTgatatatgctaatcttaatt	10	21	6	4	0	1	3	0	3	1	0	2	3	2	3	1	0	1	2	1	0	5	10			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:55684477T>C	ENST00000370830.3	-	2	1357	c.659A>G	c.(658-660)cAa>cGa	p.Q220R	BMP5_ENST00000446683.2_Missense_Mutation_p.Q220R	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	220					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			CTTGATGATTTGATATATGCT	0.323													6	16					0	0	1	0	0	C	55684477	T	C	55684477	3	2	234	1	0	0	0	0	1	0	0	0	1462	1812	63	3	729	3	BMP5	6	55684477	Missense_Mutation	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	645066	55684477	115430590	234	10980											
DST	667	broad.mit.edu	37	chr6	56485250	56485250	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaagttccctgcggtactgCttggcttcactttcagccct	5	14	8	14	1	3	0	3	0	0	0	4	0	4	0	2	2	4	4	2	2	2	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:56485250C>T	ENST00000370765.6	-	23	3689	c.3582G>A	c.(3580-3582)aaG>aaA	p.K1194K	DST_ENST00000370754.5_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000361203.3_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1535					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGCGGTACTGCTTGGCTTCAC	0.493													9	44					0	0	1	0	0	T	56485250	C	T	56485250	2	4	234	1	0	0	0	0	0	0	0	1	4809	796	28	2		2	DST	6	56485250	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	800773	56485250	114629817	235	10981											
MCHR2	84539	broad.mit.edu	37	chr6	100390836	100390836	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaacttaccagagtacatcGtcaggggatgtcaaatcaaa	16	8	8	9	1	3	1	3	0	0	1	4	2	3	2	1	2	3	1	1	2	5	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:100390836G>A	ENST00000281806.2	-	4	890	c.576C>T	c.(574-576)gaC>gaT	p.D192D	MCHR2_ENST00000369212.1_Silent_p.D192D|MCHR2_ENST00000445970.1_Silent_p.D192D	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	192						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		AGAGTACATCGTCAGGGGATG	0.413													6	58					0	0	1	0	0	A	100390836	G	A	100390836	2	1	234	1	0	0	0	0	0	0	0	1	9433	1136	40	1		1	MCHR2	6	100390836	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	43905586	100390836	70724231	236	10982											
KPNA5	3841	broad.mit.edu	37	chr6	117047719	117047719	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttcagaaagcagagtttcGtaccagaaaagaagcagctt	15	9	9	8	1	2	4	1	0	1	4	3	4	2	4	1	0	4	5	1	0	5	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:117047719G>A	ENST00000368564.1	+	12	1335	c.1187G>A	c.(1186-1188)cGt>cAt	p.R396H	KPNA5_ENST00000356348.1_Missense_Mutation_p.R396H			O15131	IMA5_HUMAN	karyopherin alpha 5 (importin alpha 6)	393	NLS binding site (minor) (By similarity).				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity			breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		GCAGAGTTTCGTACCAGAAAA	0.343													4	31					0	0	1	0	0	A	117047719	G	A	117047719	3	1	234	1	0	0	0	0	1	0	0	0	8476	1145	40	1	1233	1	KPNA5	6	117047719	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	16656883	117047719	54067348	237	10983											
BCLAF1	9774	broad.mit.edu	37	chr6	136589310	136589310	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttcacttacaaaggttcctCgtggtcggctaactcctgca	8	13	8	12	2	1	0	1	0	0	0	5	0	3	0	2	3	3	3	2	3	3	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:136589310C>T	ENST00000531224.1	-	10	2639	c.2387G>A	c.(2386-2388)cGa>cAa	p.R796Q	BCLAF1_ENST00000530767.1_Missense_Mutation_p.R623Q|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R794Q|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R796Q|BCLAF1_ENST00000031135.9_Missense_Mutation_p.R14Q|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R794Q|BCLAF1_ENST00000392348.2_Missense_Mutation_p.R794Q|BCLAF1_ENST00000529917.1_5'UTR	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	796					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AAAGGTTCCTCGTGGTCGGCT	0.358													6	76					0	0	1	0	0	T	136589310	C	T	136589310	3	4	234	1	0	0	0	0	1	0	0	0	1381	884	31	1	391	1	BCLAF1	6	136589310	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	19541591	136589310	34525757	238	10984											
PEX7	5191	broad.mit.edu	37	chr6	137191048	137191048	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatttgctggtgaccggggcGgttgactgtagtttgagagg	7	12	17	5	2	0	3	0	3	0	1	0	4	0	3	1	5	1	4	1	5	2	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:137191048G>A	ENST00000541292.1	+	7	740	c.654G>A	c.(652-654)gcG>gcA	p.A218A	PEX7_ENST00000318471.4_Silent_p.A218A			O00628	PEX7_HUMAN	peroxisomal biogenesis factor 7	218			A -> V (in RCDP1).		ether lipid biosynthetic process|protein import into peroxisome matrix	peroxisome	peroxisome matrix targeting signal-2 binding	p.A218A(1)		lung(7)|prostate(1)	8	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)		TGACCGGGGCGGTTGACTGTA	0.403													28	158					0	0	1	0	0	A	137191048	G	A	137191048	2	1	234	1	0	0	0	0	0	0	0	1	11799	1103	39	1		1	PEX7	6	137191048	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	601738	137191048	33924019	239	10985											
HECA	51696	broad.mit.edu	37	chr6	139487597	139487597	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagttcaactgcatcggcCgcgcgcgcagctggaacgag	8	6	13	14	6	1	0	1	0	0	0	3	2	2	1	2	2	4	4	2	2	2	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:139487597C>T	ENST00000367658.2	+	2	733	c.448C>T	c.(448-450)Cgc>Tgc	p.R150C	RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	150					respiratory tube development					endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		CTGCATCGGCCGCGCGCGCAG	0.617													22	64					0	0	1	0	0	T	139487597	C	T	139487597	3	4	234	1	0	0	0	0	1	0	0	0	7079	652	23	1	454	1	HECA	6	139487597	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	2296549	139487597	31627470	240	10986											
SASH1	23328	broad.mit.edu	37	chr6	148865589	148865589	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgccaaaaagagcagagaaCgccttgctaacggactccac	14	5	9	13	2	0	2	0	0	0	2	1	4	1	3	3	1	5	2	3	1	4	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:148865589C>T	ENST00000367467.3	+	18	3458	c.2983C>T	c.(2983-2985)Cgc>Tgc	p.R995C		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	995	Pro-rich.						protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		GAGCAGAGAACGCCTTGCTAA	0.612													13	71					0	0	1	0	0	T	148865589	C	T	148865589	3	4	234	1	0	0	0	0	1	0	0	0	13901	536	19	1	3053	1	SASH1	6	148865589	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	9377992	148865589	22249478	241	10987											
AKAP12	9590	broad.mit.edu	37	chr6	151670568	151670568	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaaaggcagaggttgcctccGagaaactgaccgcctccgag	11	5	13	12	3	0	3	0	1	0	2	2	6	2	3	5	2	2	2	5	2	2	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:151670568G>A	ENST00000402676.2	+	4	1282	c.1042G>A	c.(1042-1044)Gag>Aag	p.E348K	AKAP12_ENST00000354675.6_Missense_Mutation_p.E250K|AKAP12_ENST00000253332.1_Missense_Mutation_p.E348K|AKAP12_ENST00000359755.5_Missense_Mutation_p.E243K	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	348	Involved in PKC-binding (Probable).				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GGTTGCCTCCGAGAAACTGAC	0.537													7	69					0	0	1	0	0	A	151670568	G	A	151670568	3	1	234	1	0	0	0	0	1	0	0	0	445	1059	37	1	1081	1	AKAP12	6	151670568	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	2804979	151670568	19444499	242	10988											
SYNE1	23345	broad.mit.edu	37	chr6	152674405	152674405	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgcgtgcctacctccaacGtcttcaatttcttccccatc	7	14	4	16	2	3	0	1	0	2	0	6	0	5	0	5	0	4	0	5	0	4	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:152674405G>A	ENST00000367255.5	-	69	11847	c.11246C>T	c.(11245-11247)aCg>aTg	p.T3749M	SYNE1_ENST00000341594.5_Missense_Mutation_p.T3720M|SYNE1_ENST00000448038.1_Missense_Mutation_p.T3734M|SYNE1_ENST00000265368.4_Missense_Mutation_p.T3749M|SYNE1_ENST00000423061.1_Missense_Mutation_p.T3734M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3749					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TACCTCCAACGTCTTCAATTT	0.423										HNSCC(10;0.0054)			27	137					0	0	1	0	0	A	152674405	G	A	152674405	3	1	234	1	0	0	0	0	1	0	0	0	15502	1145	40	1	15532	1	SYNE1	6	152674405	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1003837	152674405	18440662	243	10989											
SYNE1	23345	broad.mit.edu	37	chr6	152718084	152718084	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagtcactgcatcaagtttgCtctgcccatcactgactgag	9	11	9	12	0	4	2	3	2	1	0	4	3	4	2	1	0	3	3	1	0	1	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:152718084C>T	ENST00000367255.5	-	50	7983	c.7382G>A	c.(7381-7383)aGc>aAc	p.S2461N	SYNE1_ENST00000341594.5_Missense_Mutation_p.S2500N|SYNE1_ENST00000448038.1_Missense_Mutation_p.S2468N|SYNE1_ENST00000265368.4_Missense_Mutation_p.S2461N|SYNE1_ENST00000423061.1_Missense_Mutation_p.S2468N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2461					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATCAAGTTTGCTCTGCCCATC	0.383										HNSCC(10;0.0054)			4	45					0	0	1	0	0	T	152718084	C	T	152718084	3	4	234	1	0	0	0	0	1	0	0	0	15502	797	28	2	19472	2	SYNE1	6	152718084	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	43679	152718084	18396983	244	10990											
SYNJ2	8871	broad.mit.edu	37	chr6	158483059	158483059	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgccacgcgggcgacacGcctatgatcaattttgactt	8	12	9	12	4	2	2	1	2	1	0	2	3	2	2	2	1	1	0	2	1	2	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:158483059G>A	ENST00000355585.4	+	8	1065	c.990G>A	c.(988-990)acG>acA	p.T330T	SYNJ2_ENST00000367122.2_Silent_p.T330T|SYNJ2_ENST00000367121.3_Silent_p.T330T|SYNJ2_ENST00000449859.2_Intron	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	330	SAC.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CGGGCGACACGCCTATGATCA	0.562													27	169					0	0	1	0	0	A	158483059	G	A	158483059	2	1	234	1	0	0	0	0	0	0	0	1	15510	1074	38	1		1	SYNJ2	6	158483059	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	5764975	158483059	12632008	245	10991											
IGF2R	3482	broad.mit.edu	37	chr6	160468851	160468851	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ataactccacctacaacttcCggtggtacaccagctatgcc	11	9	6	15	1	0	0	0	0	0	0	2	0	2	0	5	2	6	2	5	2	5	5	rs146539241		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:160468851C>T	ENST00000356956.1	+	17	2405	c.2257C>T	c.(2257-2259)Cgg>Tgg	p.R753W		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	753					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		CTACAACTTCCGGTGGTACAC	0.547													24	85					0	0	1	0	0	T	160468851	C	T	160468851	3	4	234	1	0	0	0	0	1	0	0	0	7620	643	23	1	2323	1	IGF2R	6	160468851	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	1985792	160468851	10646216	246	10992											
IGF2R	3482	broad.mit.edu	37	chr6	160494345	160494345	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgtacaaggatgggtccccTtgtccctccaaatccggcct	7	10	10	14	1	0	0	0	0	0	0	4	1	4	1	6	3	1	1	6	3	3	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:160494345T>C	ENST00000356956.1	+	34	4939	c.4791T>C	c.(4789-4791)ccT>ccC	p.P1597P		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1597					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		ATGGGTCCCCTTGTCCCTCCA	0.577													11	30					0	0	1	0	0	C	160494345	T	C	160494345	2	2	234	1	0	0	0	0	0	0	0	1	7620	1596	56	3		3	IGF2R	6	160494345	Silent	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	25494	160494345	10620722	247	10993											
THBS2	7058	broad.mit.edu	37	chr6	169629715	169629715	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtcatcatcacaggcatcGccaatcccgtccttgtcaaa	10	10	6	15	3	4	0	4	0	0	0	8	0	6	0	3	1	0	1	3	1	2	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:169629715G>A	ENST00000366787.3	-	15	2460	c.2211C>T	c.(2209-2211)ggC>ggT	p.G737G	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	737					cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CACAGGCATCGCCAATCCCGT	0.527													16	83					0	0	1	0	0	A	169629715	G	A	169629715	2	1	234	1	0	0	0	0	0	0	0	1	15914	1074	38	1		1	THBS2	6	169629715	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	9135370	169629715	1485352	248	10994											
C6orf70	0	broad.mit.edu	37	chr6	170159960	170159960	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaatgatgatactgttgaCggcaggattgggtcagttac	10	13	12	6	1	2	3	2	3	0	0	2	4	2	4	0	3	2	3	0	3	3	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr6:170159960C>T	ENST00000588451.1	+	7	767	c.254C>T	c.(253-255)aCg>aTg	p.T85M	C6orf70_ENST00000366773.3_Missense_Mutation_p.T211M|C6orf70_ENST00000366772.2_Missense_Mutation_p.T211M|C6orf70_ENST00000418781.3_Missense_Mutation_p.T211M|C6orf70_ENST00000392095.4_Missense_Mutation_p.T85M			Q5T6L9	CF070_HUMAN		211						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1)	20		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)		ATACTGTTGACGGCAGGATTG	0.358													8	44					0	0	1	0	0	T	170159960	C	T	170159960	3	4	234	1	0	0	0	0	1	0	0	0	2385	536	19	1	658	1	C6orf70	6	170159960	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	530245	170159960	955107	249	10995											
INTS1	26173	broad.mit.edu	37	chr7	1527550	1527550	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acggttcagcatctccgtccGggtctcctcatccgtcaggg	5	10	11	15	4	5	0	3	0	2	0	9	0	7	0	4	3	1	2	4	3	0	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:1527550G>A	ENST00000389470.4	-	20	2745	c.2746C>T	c.(2746-2748)Cgg>Tgg	p.R916W	INTS1_ENST00000404767.3_Missense_Mutation_p.R788W			Q8N201	INT1_HUMAN	integrator complex subunit 1	788					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		ATCTCCGTCCGGGTCTCCTCA	0.667													33	145					0	0	1	0	0	A	1527550	G	A	1527550	3	1	234	1	0	0	0	0	1	0	0	0	7819	1115	39	1	4330	1	INTS1	7	1527550	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08		1527550	157611113	250	10996											
THSD7A	221981	broad.mit.edu	37	chr7	11630114	11630114	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcttgtgggtacttaattGtgagaggaggttttcgttgg	6	17	15	3	1	1	1	0	1	1	1	2	3	1	2	0	4	1	4	0	4	2	8			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:11630114G>A	ENST00000423059.3	-	4	1677	c.1426C>T	c.(1426-1428)Caa>Taa	p.Q476*		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	476	TSP type-1 4.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GTACTTAATTGTGAGAGGAGG	0.507										HNSCC(18;0.044)			7	36					0	0	1	0	0	A	11630114	G	A	11630114	4	1	234	1	0	0	0	0	0	1	0	0	15939	1386	48	2	3643	2	THSD7A	7	11630114	Nonsense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	10102564	11630114	147508549	251	10997											
ITGB8	3696	broad.mit.edu	37	chr7	20418789	20418789	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatatagaaaaattaaattcCgttggaaacgatttatctag	18	13	6	4	2	1	1	0	0	1	1	2	3	2	2	1	1	1	1	1	1	10	8			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:20418789C>T	ENST00000222573.3	+	4	1188	c.504C>T	c.(502-504)tcC>tcT	p.S168S	ITGB8_ENST00000537992.1_Silent_p.S33S	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	168	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity	p.S168S(4)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						AATTAAATTCCGTTGGAAACG	0.338													7	22					0	0	1	0	0	T	20418789	C	T	20418789	2	4	234	1	0	0	0	0	0	0	0	1	7945	639	23	1		1	ITGB8	7	20418789	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	8788675	20418789	138719874	252	10998											
ABCB5	340273	broad.mit.edu	37	chr7	20668422	20668422	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggttttaggagaaatgagtGataaccttattagtggatgt	12	15	12	2	0	0	3	0	2	0	1	0	5	0	4	1	3	1	1	1	3	5	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:20668422G>A	ENST00000404938.2	+	4	872	c.220G>A	c.(220-222)Gat>Aat	p.D74N		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	271	ABC transporter 1.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						AGAAATGAGTGATAACCTTAT	0.393													4	16					0	0	1	0	0	A	20668422	G	A	20668422	3	1	234	1	0	0	0	0	1	0	0	0	44	1290	45	2	230	2	ABCB5	7	20668422	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	249633	20668422	138470241	253	10999											
KLHL7	55975	broad.mit.edu	37	chr7	23207467	23207468	+	Frame_Shift_Del	DEL	TG	TG	-																															ttttacaggaaactcagctcTgtatttatttgagtgctatg																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:23207467_23207468delTG	ENST00000322231.7	+	10	1614_1615	c.1124_1125delTG	c.(1123-1125)cfs	p.L375fs	KLHL7_ENST00000339077.4_Frame_Shift_Del_p.L397fs|KLHL7_ENST00000409689.1_Frame_Shift_Del_p.L349fs|KLHL7_ENST00000542558.1_Frame_Shift_Del_p.L172fs|KLHL7_ENST00000539124.1_Frame_Shift_Del_p.L321fs|KLHL7_ENST00000545443.1_Frame_Shift_Del_p.L375fs			Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	397						Golgi apparatus|nucleolus|plasma membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AACTCAGCTCTGTATTTATTTG	0.465													7	36	---	---	---	---						-	23207468	TG	-	23207467	7	5	234	1	0	1	0	1	0	0	0	0	8437	1580	55	0	1287	0	KLHL7	7	23207467	Frame_Shift_Del	DEL	TG	TCGA-J9-A52C-01A-11D-A26M-08	2539045	23207467	135931196	254	11000											
GGCT	79017	broad.mit.edu	37	chr7	30538451	30538451	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggggatgggggagcactttCgtaatttgtcatcagataac	10	12	13	6	1	2	1	2	0	0	1	3	3	2	3	0	4	2	2	0	4	2	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:30538451C>T	ENST00000275428.4	-	3	525	c.391G>A	c.(391-393)Gaa>Aaa	p.E131K	GGCT_ENST00000409390.1_Intron|GGCT_ENST00000598361.1_Missense_Mutation_p.E46K|GGCT_ENST00000005374.6_Intron|GGCT_ENST00000409436.1_Missense_Mutation_p.E131K|GGCT_ENST00000409144.1_Intron	NM_024051.3	NP_076956.1	O75223	GGCT_HUMAN	gamma-glutamylcyclotransferase	131					release of cytochrome c from mitochondria	cytosol	acyltransferase activity|gamma-glutamylcyclotransferase activity|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8						GGAGCACTTTCGTAATTTGTC	0.343													12	53					0	0	1	0	0	T	30538451	C	T	30538451	3	4	234	1	0	0	0	0	1	0	0	0	6397	893	31	1	183	1	GGCT	7	30538451	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	7330984	30538451	128600212	255	11001											
ELMO1	9844	broad.mit.edu	37	chr7	36927225	36927225	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttccacaaggcggttcaggcGttgctgtttgatcagctcta	7	13	11	10	2	3	1	2	1	1	0	4	1	4	1	1	3	2	5	1	3	2	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:36927225G>A	ENST00000310758.4	-	18	2301	c.1654C>T	c.(1654-1656)Cgc>Tgc	p.R552C	ELMO1_ENST00000396045.3_Missense_Mutation_p.R72C|ELMO1_ENST00000448602.1_Missense_Mutation_p.R552C|ELMO1_ENST00000396040.2_Missense_Mutation_p.R72C|ELMO1_ENST00000442504.1_Missense_Mutation_p.R552C|ELMO1_ENST00000341056.3_Missense_Mutation_p.R254C	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	552					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	p.R552S(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						CGGTTCAGGCGTTGCTGTTTG	0.473													6	46					0	0	1	0	0	A	36927225	G	A	36927225	3	1	234	1	0	0	0	0	1	0	0	0	5093	1145	40	1	549	1	ELMO1	7	36927225	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	6388774	36927225	122211438	256	11002											
PKD1L1	168507	broad.mit.edu	37	chr7	47933631	47933631	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcccacacagtagttgctgTacaccacactgccttcaatc	10	9	7	15	0	1	0	1	0	0	0	2	0	1	0	3	1	3	4	3	1	3	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:47933631T>C	ENST00000289672.2	-	15	2347	c.2297A>G	c.(2296-2298)tAc>tGc	p.Y766C		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	766	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GTAGTTGCTGTACACCACACT	0.582													18	48					0	0	1	0	0	C	47933631	T	C	47933631	3	2	234	1	0	0	0	0	1	0	0	0	12012	1638	57	3	6424	3	PKD1L1	7	47933631	Missense_Mutation	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	11006406	47933631	111205032	257	11003											
PKD1L1	168507	broad.mit.edu	37	chr7	47955075	47955075	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatccaaggttactggggtcTgagtcttccaggcagctgtt	7	13	12	9	0	2	1	0	1	2	0	4	1	4	1	2	4	2	4	2	4	3	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:47955075T>C	ENST00000289672.2	-	8	1232	c.1182A>G	c.(1180-1182)tcA>tcG	p.S394S		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	394					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						tactggggtctgagtcttcca	0.398													12	48					0	0	1	0	0	C	47955075	T	C	47955075	2	2	234	1	0	0	0	0	0	0	0	1	12012	1567	55	3		3	PKD1L1	7	47955075	Silent	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	21444	47955075	111183588	258	11004											
ABCA13	154664	broad.mit.edu	37	chr7	48506591	48506591	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacctcacccgtgtgcttcTgcggaagtttagagatcaag	9	10	12	10	2	3	1	2	0	1	1	3	4	3	3	2	2	2	2	2	2	3	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:48506591T>G	ENST00000435803.1	+	44	12878	c.12854T>G	c.(12853-12855)cTg>cGg	p.L4285R	ABCA13_ENST00000544596.1_Intron	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4285					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CGTGTGCTTCTGCGGAAGTTT	0.478													22	104					0	0	1	0	0	G	48506591	T	G	48506591	3	3	234	1	0	0	0	0	1	0	0	0	31	1580	55	5	12857	5	ABCA13	7	48506591	Missense_Mutation	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	551516	48506591	110632072	259	11005											
COBL	23242	broad.mit.edu	37	chr7	51095820	51095820	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccactgaaaccacagctCtgtcccacagaaacacgatc	13	8	5	15	1	1	2	0	1	1	1	4	3	3	2	3	0	3	1	3	0	2	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:51095820C>A	ENST00000395542.2	-	12	3403	c.3219G>T	c.(3217-3219)caG>caT	p.Q1073H	COBL_ENST00000265136.7_Missense_Mutation_p.Q991H			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	991										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					AACCACAGCTCTGTCCCACAG	0.552													10	50					1.08611e-07	1.10743e-07	1	1	0	A	51095820	C	A	51095820	3	1	234	1	0	0	0	0	1	0	0	0	3676	912	32	4	828	4	COBL	7	51095820	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	2589229	51095820	108042843	260	11006											
FKBP6	8468	broad.mit.edu	37	chr7	72744195	72744195	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgggccttctgagcatgcGgagaggagagctggccaggt	7	7	18	9	1	1	3	0	1	1	2	1	5	1	3	2	5	3	3	2	5	0	1	rs3950376		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:72744195G>A	ENST00000252037.4	+	4	377	c.308G>A	c.(307-309)cGg>cAg	p.R103Q	FKBP6_ENST00000431982.2_Missense_Mutation_p.R98Q|FKBP6_ENST00000413573.2_Missense_Mutation_p.R73Q	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	103	PPIase FKBP-type.				protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	p.R103Q(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				CTGAGCATGCGGAGAGGAGAG	0.537													9	34					0	0	1	0	0	A	72744195	G	A	72744195	3	1	234	1	0	0	0	0	1	0	0	0	5945	1116	39	1	368	1	FKBP6	7	72744195	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	21648375	72744195	86394468	261	11007											
POM121C	100101267	broad.mit.edu	37	chr7	75053837	75053837	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcctccaaggcctggttgaaCcactgtaatgaagccttctt	9	12	8	12	0	1	2	0	2	1	0	3	2	3	2	5	2	2	2	5	2	4	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:75053837C>T	ENST00000453279.2	-	11	1707	c.843G>A	c.(841-843)tgG>tgA	p.W281*	POM121C_ENST00000473168.1_5'UTR|POM121C_ENST00000257665.5_Nonsense_Mutation_p.W523*	NM_001099415.1	NP_001092885.1	A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	523	Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						CCTGGTTGAACCACTGTAATG	0.468													10	92					0	0	1	0	0	T	75053837	C	T	75053837	4	4	234	1	0	0	0	0	0	1	0	0	12288	508	18	2	2140	2	POM121C	7	75053837	Nonsense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	2309642	75053837	84084826	262	11008											
UPK3B	80761	broad.mit.edu	37	chr7	76140012	76140014	+	In_Frame_Del	DEL	CTC	CTC	-																															ctcacctagggctgcagatgCtcctcctggcgttgaactgt																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:76140012_76140014delCTC	ENST00000419923.2	+	1	268_270	c.43_45delCTC	c.(43-45)del	p.L17del	UPK3B_ENST00000394849.1_In_Frame_Del_p.L17del|UPK3B_ENST00000443097.2_In_Frame_Del_p.L17del|UPK3B_ENST00000257632.5_In_Frame_Del_p.L17del|UPK3B_ENST00000334348.3_In_Frame_Del_p.L17del|UPK3B_ENST00000448265.3_In_Frame_Del_p.L17del			Q9BT76	UPK3B_HUMAN	uroplakin 3B	17					negative regulation of gene expression	integral to membrane|plasma membrane				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(1)|skin(2)	8		Myeloproliferative disorder(862;0.204)				GCTGCAGATGCTCCTCCTGGCGT	0.695													13	28	---	---	---	---						-	76140014	CTC	-	76140012	7	5	234	1	0	1	0	1	0	0	0	0	17071	797	28	0	45	0	UPK3B	7	76140012	In_Frame_Del	DEL	CTC	TCGA-J9-A52C-01A-11D-A26M-08	1086175	76140012	82998651	263	11009											
FZD1	8321	broad.mit.edu	37	chr7	90894692	90894692	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcagtgttccgctgagctcaAgttcttcctgtgctccatgt	5	14	10	12	1	2	1	1	1	1	0	5	1	5	1	3	0	2	6	3	0	1	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:90894692A>G	ENST00000287934.2	+	1	910	c.497A>G	c.(496-498)aAg>aGg	p.K166R		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled family receptor 1	166	FZ.				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			GCTGAGCTCAAGTTCTTCCTG	0.657													25	155					0	0	1	0	0	G	90894692	A	G	90894692	3	3	234	1	0	0	0	0	1	0	0	0	6163	72	3	3	499	3	FZD1	7	90894692	Missense_Mutation	SNP	A	TCGA-J9-A52C-01A-11D-A26M-08	14754680	90894692	68243971	264	11010											
PEX1	5189	broad.mit.edu	37	chr7	92146659	92146659	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcattgttcaattcttcaagTccattccagactacttgtag	10	15	6	10	0	3	1	2	0	1	1	5	1	5	1	2	0	1	3	2	0	4	8			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:92146659T>C	ENST00000248633.4	-	5	1265	c.1170A>G	c.(1168-1170)ggA>ggG	p.G390G	PEX1_ENST00000541751.1_5'UTR|PEX1_ENST00000438045.1_Intron|PEX1_ENST00000428214.1_Silent_p.G390G	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	390					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			ATTCTTCAAGTCCATTCCAGA	0.358													10	43					0	0	1	0	0	C	92146659	T	C	92146659	2	2	234	1	0	0	0	0	0	0	0	1	11783	1654	58	3		3	PEX1	7	92146659	Silent	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	1251967	92146659	66992004	265	11011											
TMEM130	222865	broad.mit.edu	37	chr7	98445737	98445737	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcagcccgtggttctcaCgaacaatttccaggtactca	10	9	10	12	2	2	0	2	0	1	0	4	2	3	1	2	3	4	3	2	3	3	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:98445737C>T	ENST00000450876.1	-	8	2277	c.962G>A	c.(961-963)cGt>cAt	p.R321H	TMEM130_ENST00000345589.4_Missense_Mutation_p.R303H|TMEM130_ENST00000416379.2_Missense_Mutation_p.R417H|TMEM130_ENST00000546258.1_Missense_Mutation_p.R386H|TMEM130_ENST00000339375.4_Missense_Mutation_p.R405H			Q8N3G9	TM130_HUMAN	transmembrane protein 130	417						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)			GTGGTTCTCACGAACAATTTC	0.567													9	43					0	0	1	0	0	T	98445737	C	T	98445737	3	4	234	1	0	0	0	0	1	0	0	0	16103	536	19	1	61	1	TMEM130	7	98445737	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	6299078	98445737	60692926	266	11012											
TRRAP	8295	broad.mit.edu	37	chr7	98608824	98608824	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggctctgataggcttcgcGgaattcgtcctgcatttaaa	8	13	10	10	3	1	1	0	1	1	0	4	2	2	2	1	3	1	3	1	3	4	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:98608824G>A	ENST00000359863.4	+	70	11255	c.11046G>A	c.(11044-11046)gcG>gcA	p.A3682A	TRRAP_ENST00000446306.3_Silent_p.A3671A|TRRAP_ENST00000355540.3_Silent_p.A3653A	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3682	PI3K/PI4K.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TAGGCTTCGCGGAATTCGTCC	0.537													15	85					0	0	1	0	0	A	98608824	G	A	98608824	2	1	234	1	0	0	0	0	0	0	0	1	16662	1103	39	1		1	TRRAP	7	98608824	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	163087	98608824	60529839	267	11013											
ZAN	7455	broad.mit.edu	37	chr7	100357988	100357991	+	RNA	DEL	TCTC	TCTC	-																															ttgacccccagctctgtctgTctcttgcctctgccctgcct																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:100357988_100357991delTCTC	ENST00000542585.1	+	0	3844				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GCTCTGTCTGTCTCTTGCCTCTGC	0.583													8	72	---	---	---	---						-	100357991	TCTC	-	100357988	6	5	234	0	1	1	0	1	0	0	0	0	17573	1682	58	0		0	ZAN	7	100357988	RNA	DEL	TCTC	TCGA-J9-A52C-01A-11D-A26M-08	1749164	100357988	58780675	268	11014											
CLDN15	24146	broad.mit.edu	37	chr7	100880655	100880655	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaccccataccagagagggCcagcatggacgggaactccc	11	3	11	16	1	0	1	0	0	0	1	1	4	1	3	6	3	3	1	6	3	2	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:100880655C>T	ENST00000401528.1	-	2	1333	c.208G>A	c.(208-210)Gcc>Acc	p.A70T	CLDN15_ENST00000433422.1_5'UTR|CLDN15_ENST00000308344.5_Missense_Mutation_p.A70T	NM_001185080.1	NP_001172009.1	P56746	CLD15_HUMAN	claudin 15	70					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	10	Lung NSC(181;0.168)|all_lung(186;0.215)					CCAGAGAGGGCCAGCATGGAC	0.637													3	16					0	0	1	0	0	T	100880655	C	T	100880655	3	4	234	1	0	0	0	0	1	0	0	0	3499	739	26	2	498	2	CLDN15	7	100880655	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	522667	100880655	58258008	269	11015											
CUX1	1523	broad.mit.edu	37	chr7	101758534	101758534	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgacctgaaaaccaaatacGatgaagaaactactgcaaag	19	7	7	8	1	0	4	0	3	0	1	0	5	0	4	2	0	5	1	2	0	8	3	rs144091204		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:101758534G>A	ENST00000360264.3	+	8	708	c.688G>A	c.(688-690)Gat>Aat	p.D230N	CUX1_ENST00000393824.3_Missense_Mutation_p.D193N|CUX1_ENST00000556210.1_Missense_Mutation_p.D219N|CUX1_ENST00000550008.2_Missense_Mutation_p.D219N|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000549414.2_Missense_Mutation_p.D219N|CUX1_ENST00000546411.2_Missense_Mutation_p.D219N|CUX1_ENST00000547394.2_Missense_Mutation_p.D214N|CUX1_ENST00000292535.7_Missense_Mutation_p.D219N|CUX1_ENST00000292538.4_Missense_Mutation_p.D230N|CUX1_ENST00000437600.4_Missense_Mutation_p.D230N|CUX1_ENST00000425244.2_Missense_Mutation_p.D184N	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	219					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						AACCAAATACGATGAAGAAAC	0.373													5	53					0	0	1	0	0	A	101758534	G	A	101758534	3	1	234	1	0	0	0	0	1	0	0	0	4087	1058	37	1	752	1	CUX1	7	101758534	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	877879	101758534	57380129	270	11016											
CUX1	1523	broad.mit.edu	37	chr7	101840561	101840561	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagaacatcctggccctcCgtagcatccaaggcagacaa	13	5	9	14	1	0	2	0	0	0	2	3	2	3	2	4	2	3	4	4	2	4	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:101840561C>T	ENST00000360264.3	+	15	1923	c.1903C>T	c.(1903-1905)Cgt>Tgt	p.R635C	CUX1_ENST00000393824.3_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.R522C|CUX1_ENST00000550008.2_Missense_Mutation_p.R624C|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000549414.2_Missense_Mutation_p.R624C|CUX1_ENST00000546411.2_Missense_Mutation_p.R522C|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000292535.7_Missense_Mutation_p.R624C|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000425244.2_Intron	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	624					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CCTGGCCCTCCGTAGCATCCA	0.572													10	51					0	0	1	0	0	T	101840561	C	T	101840561	3	4	234	1	0	0	0	0	1	0	0	0	4087	652	23	1	1995	1	CUX1	7	101840561	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	82027	101840561	57298102	271	11017											
PPP1R3A	5506	broad.mit.edu	37	chr7	113558764	113558764	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttctgtgtggaaaatgtcCgtccctaagtcaaaagtggt	10	13	10	8	1	3	0	1	0	2	0	5	1	5	1	2	2	0	0	2	2	5	2	rs111896635	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:113558764C>T	ENST00000284601.3	-	1	356	c.288G>A	c.(286-288)acG>acA	p.T96T		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	96					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GGAAAATGTCCGTCCCTAAGT	0.383													11	55					0	0	1	0	0	T	113558764	C	T	113558764	2	4	234	1	0	0	0	0	0	0	0	1	12420	639	23	1		1	PPP1R3A	7	113558764	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	11718203	113558764	45579899	272	11018											
CADPS2	93664	broad.mit.edu	37	chr7	122261737	122261737	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctatatacatattctccAtatcttttgctataaatttg	11	20	2	8	0	3	0	0	0	3	0	4	0	3	0	1	0	2	1	1	0	8	12			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:122261737A>G	ENST00000334010.7	-	5	1323	c.902T>C	c.(901-903)aTg>aCg	p.M301T	CADPS2_ENST00000412584.2_Missense_Mutation_p.M301T|CADPS2_ENST00000449022.2_Missense_Mutation_p.M301T|CADPS2_ENST00000313070.7_Missense_Mutation_p.M301T	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	301					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						CATATTCTCCATATCTTTTGC	0.289													4	15					0	0	1	0	0	G	122261737	A	G	122261737	3	3	234	1	0	0	0	0	1	0	0	0	2589	217	8	3	3136	3	CADPS2	7	122261737	Missense_Mutation	SNP	A	TCGA-J9-A52C-01A-11D-A26M-08	8702973	122261737	36876926	273	11019											
RNF148	378925	broad.mit.edu	37	chr7	122342454	122342454	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctcccttctctgctgccacGttgattttatgtgtaaaagt	7	16	8	10	1	1	1	0	1	1	0	3	1	2	1	2	0	2	4	2	0	3	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:122342454G>A	ENST00000434824.1	-	1	567	c.351C>T	c.(349-351)aaC>aaT	p.N117N	RNF148_ENST00000447240.1_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000313070.7_Intron	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN	ring finger protein 148	117	PA.					integral to membrane	zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						CTGCTGCCACGTTGATTTTAT	0.483													32	149					0	0	1	0	0	A	122342454	G	A	122342454	2	1	234	1	0	0	0	0	0	0	0	1	13501	1136	40	1		1	RNF148	7	122342454	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	80717	122342454	36796209	274	11020											
IMPDH1	3614	broad.mit.edu	37	chr7	128034367	128034367	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaccaccctcaatctgggcCgacatggtccgcttctcaaa	10	8	7	16	2	3	0	2	0	2	0	5	1	4	0	4	2	0	1	4	2	2	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:128034367C>T	ENST00000338791.6	-	16	2093	c.1743G>A	c.(1741-1743)tcG>tcA	p.S581S	IMPDH1_ENST00000480861.1_Silent_p.S491S|IMPDH1_ENST00000348127.6_Silent_p.S545S|IMPDH1_ENST00000354269.5_Silent_p.S571S|IMPDH1_ENST00000496200.1_Silent_p.S471S|IMPDH1_ENST00000378717.4_Silent_p.S512S|IMPDH1_ENST00000343214.4_Silent_p.S471S|IMPDH1_ENST00000419067.2_Silent_p.S548S|IMPDH1_ENST00000470772.1_Silent_p.S495S	NM_000883.3	NP_000874.2	P20839	IMDH1_HUMAN	IMP (inosine 5'-monophosphate) dehydrogenase 1	496					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	CAATCTGGGCCGACATGGTCC	0.592													11	36					0	0	1	0	0	T	128034367	C	T	128034367	2	4	234	1	0	0	0	0	0	0	0	1	7770	639	23	1		1	IMPDH1	7	128034367	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	5691913	128034367	31104296	275	11021											
FLNC	2318	broad.mit.edu	37	chr7	128488072	128488072	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactacaccccagccactgaCgggccctacacggtagccgt	9	5	9	18	3	0	1	0	1	0	0	0	1	0	1	5	2	4	1	5	2	3	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:128488072C>T	ENST00000325888.8	+	26	4791	c.4530C>T	c.(4528-4530)gaC>gaT	p.D1510D	FLNC_ENST00000346177.6_Silent_p.D1510D	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1510					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CAGCCACTGACGGGCCCTACA	0.657													6	9					0	0	1	0	0	T	128488072	C	T	128488072	2	4	234	1	0	0	0	0	0	0	0	1	5968	535	19	1		1	FLNC	7	128488072	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	453705	128488072	30650591	276	11022											
CPA1	1357	broad.mit.edu	37	chr7	130021608	130021608	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgatcgaggacgtgcagtcGctgctggacgaggagcagga	10	6	17	8	4	0	1	0	1	0	0	2	7	0	5	0	4	3	4	0	4	0	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:130021608G>A	ENST00000011292.3	+	3	435	c.285G>A	c.(283-285)tcG>tcA	p.S95S	CPA1_ENST00000484324.1_Silent_p.S7S	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	95					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					ACGTGCAGTCGCTGCTGGACG	0.612											OREG0018314	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	40					0	0	1	0	0	A	130021608	G	A	130021608	2	1	234	1	0	0	0	0	0	0	0	1	3812	1074	38	1		1	CPA1	7	130021608	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1533536	130021608	29117055	277	11023											
ZNF398	0	broad.mit.edu	37	chr7	148875783	148875783	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaggccttgctagatcctcGttgtgccctgaggttccagt	6	12	12	11	1	0	2	0	1	0	1	3	3	2	2	4	2	2	3	4	2	2	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:148875783G>A	ENST00000420008.2	+	6	1094	c.306G>A	c.(304-306)tcG>tcA	p.S102S	ZNF398_ENST00000491174.1_Silent_p.S102S|ZNF398_ENST00000483892.1_Silent_p.S102S|ZNF398_ENST00000335901.4_Silent_p.S102S|ZNF398_ENST00000475153.1_Silent_p.S273S|ZNF398_ENST00000540950.1_Silent_p.S278S|ZNF398_ENST00000426851.2_Silent_p.S102S	NM_170686.2	NP_733787.1	Q8TD17	ZN398_HUMAN	zinc finger protein 398	273					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			CTAGATCCTCGTTGTGCCCTG	0.463													21	140					0	0	1	0	0	A	148875783	G	A	148875783	2	1	234	1	0	0	0	0	0	0	0	1	17942	1132	40	1		1	ZNF398	7	148875783	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	18854175	148875783	10262880	278	11024											
LRRC61	65999	broad.mit.edu	37	chr7	150034682	150034682	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcgacagcctggcccaggcGgagcaggtactcagctctgc	8	5	14	14	2	2	0	1	0	1	0	2	2	2	1	2	4	6	3	2	4	1	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:150034682G>A	ENST00000359623.4	+	3	1320	c.732G>A	c.(730-732)gcG>gcA	p.A244A	LRRC61_ENST00000323078.7_Silent_p.A244A|LRRC61_ENST00000493307.1_Silent_p.A244A	NM_001142928.1	NP_001136400.1	Q9BV99	LRC61_HUMAN	leucine rich repeat containing 61	244										endometrium(2)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			TGGCCCAGGCGGAGCAGGTAC	0.677													4	32					0	0	1	0	0	A	150034682	G	A	150034682	2	1	234	1	0	0	0	0	0	0	0	1	9062	1103	39	1		1	LRRC61	7	150034682	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1158899	150034682	9103981	279	11025											
GIMAP1	170575	broad.mit.edu	37	chr7	150417944	150417944	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggccctgctgctggggggCgcgctcctgttctgggtgct	0	11	17	13	2	1	0	0	0	1	0	2	0	2	0	2	5	3	5	2	5	0	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:150417944C>T	ENST00000307194.5	+	3	992	c.852C>T	c.(850-852)ggC>ggT	p.G284G		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1											NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGCTGGGGGGCGCGCTCCTGT	0.687													4	16					0	0	1	0	0	T	150417944	C	T	150417944	2	4	234	1	0	0	0	0	0	0	0	1	6421	755	27	1		1	GIMAP1	7	150417944	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	383262	150417944	8720719	280	11026											
KCNH2	3757	broad.mit.edu	37	chr7	150656679	150656679	+	Frame_Shift_Del	DEL	G	G	-																															cctggggccagccagctggtGggggggccccggtggttggt																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr7:150656679delG	ENST00000392968.2	-	1	1285	c.165delC	c.(163-165)ccfs	p.P55fs	KCNH2_ENST00000262186.5_Frame_Shift_Del_p.P151fs|KCNH2_ENST00000430723.3_Frame_Shift_Del_p.P151fs			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	151	PAS.				blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	p.T152fs*180(1)		NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	GCCAGCTGGTGGGGGGGCCCC	0.587													7	63	---	---	---	---						-	150656679	G	-	150656679	7	5	234	1	0	1	0	1	0	0	0	0	8076	1335	47	0	3459	0	KCNH2	7	150656679	Frame_Shift_Del	DEL	G	TCGA-J9-A52C-01A-11D-A26M-08	238735	150656679	8481984	281	11027											
RP1L1	94137	broad.mit.edu	37	chr8	10467947	10467947	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctgtgtcaccagggtgcCgtccatggcacagggtacgc	6	7	13	15	2	1	0	1	0	0	0	2	0	2	0	5	3	2	2	5	3	1	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:10467947C>T	ENST00000382483.3	-	4	3884	c.3661G>A	c.(3661-3663)Ggc>Agc	p.G1221S		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1221					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		ACCAGGGTGCCGTCCATGGCA	0.582													4	28					0	0	1	0	0	T	10467947	C	T	10467947	3	4	234	1	0	0	0	0	1	0	0	0	13585	652	23	1	3545	1	RP1L1	8	10467947	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08		10467947	135896075	282	11028											
LGI3	203190	broad.mit.edu	37	chr8	22006441	22006441	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacagctgggccacgaccacGtacagctggctgtccaccac	10	5	10	16	2	0	0	0	0	0	0	1	1	1	0	4	2	4	4	4	2	2	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:22006441G>A	ENST00000306317.2	-	8	1168	c.879C>T	c.(877-879)taC>taT	p.Y293Y	LGI3_ENST00000424267.2_Silent_p.Y269Y	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	293					exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		CCACGACCACGTACAGCTGGC	0.637													3	29					0	0	1	0	0	A	22006441	G	A	22006441	2	1	234	1	0	0	0	0	0	0	0	1	8793	1140	40	1		1	LGI3	8	22006441	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	11538494	22006441	124357581	283	11029											
RHOBTB2	23221	broad.mit.edu	37	chr8	22862016	22862016	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcgttgtggtgggggacaaCgccgtgggtaagaccaggct	7	8	18	8	3	0	1	0	0	0	1	0	2	0	2	2	5	2	3	2	5	2	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:22862016C>T	ENST00000251822.6	+	2	606	c.69C>T	c.(67-69)aaC>aaT	p.N23N	RHOBTB2_ENST00000522948.1_Silent_p.N30N|RHOBTB2_ENST00000519685.1_Silent_p.N45N|RP11-875O11.1_ENST00000523884.1_RNA|RHOBTB2_ENST00000523918.1_3'UTR	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	23	Rho-like.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		TGGGGGACAACGCCGTGGGTA	0.587											OREG0018628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	53					0	0	1	0	0	T	22862016	C	T	22862016	2	4	234	1	0	0	0	0	0	0	0	1	13384	535	19	1		1	RHOBTB2	8	22862016	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	855575	22862016	123502006	284	11030											
DOCK5	80005	broad.mit.edu	37	chr8	25174561	25174561	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttatgtcaccctgatccacGgtgagtttgacaaagggaag	11	11	11	8	1	1	3	1	3	0	0	2	4	2	4	2	2	0	1	2	2	3	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:25174561G>A	ENST00000276440.7	+	14	1401	c.1357G>A	c.(1357-1359)Ggt>Agt	p.G453S		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	453	DHR-1.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CCTGATCCACGGTGAGTTTGA	0.488													15	80					0	0	1	0	0	A	25174561	G	A	25174561	3	1	234	1	0	0	0	0	1	0	0	0	4717	1116	39	1	1411	1	DOCK5	8	25174561	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	2312545	25174561	121189461	285	11031											
PTK2B	2185	broad.mit.edu	37	chr8	27310662	27310662	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggcccccacagaagcccccGaggctgggcgcacaggtatg	8	3	15	15	2	0	1	0	0	0	1	0	2	0	1	4	4	1	3	4	4	2	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:27310662G>A	ENST00000397501.1	+	33	3388	c.2580G>A	c.(2578-2580)ccG>ccA	p.P860P	PTK2B_ENST00000517339.1_Silent_p.P818P|PTK2B_ENST00000544172.1_Silent_p.P860P|PTK2B_ENST00000346049.5_Silent_p.P860P|PTK2B_ENST00000420218.2_Silent_p.P818P|PTK2B_ENST00000338238.4_Silent_p.P818P	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	860	Interaction with TGFB1I1 (By similarity).|Pro-rich.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		AGAAGCCCCCGAGGCTGGGCG	0.522													8	49					0	0	1	0	0	A	27310662	G	A	27310662	2	1	234	1	0	0	0	0	0	0	0	1	12813	1045	37	1		1	PTK2B	8	27310662	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	2136101	27310662	119053360	286	11032											
HTRA4	203100	broad.mit.edu	37	chr8	38835668	38835668	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gattgatgccacaattaatgTaagtcacttaggacagaggt	14	11	10	6	0	1	2	1	1	0	1	1	4	1	3	1	2	1	1	1	2	4	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:38835668T>C	ENST00000302495.4	+	4	1066		c.e4+2			NM_153692.3	NP_710159.1	P83105	HTRA4_HUMAN	HtrA serine peptidase 4						proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			ACAATTAATGTAAGTCACTTA	0.537													5	14					0	0	1	0	0	C	38835668	T	C	38835668	5	2	234	1	0	0	0	0	0	0	1	0	7500	1652	57	3	982	3	HTRA4	8	38835668	Splice_Site	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	11525006	38835668	107528354	287	11033											
ANK1	286	broad.mit.edu	37	chr8	41525928	41525928	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tacagacaccaggaccttctCgtactcctgagatccaccgg	10	8	8	15	2	1	2	0	1	1	2	4	4	3	3	5	2	2	1	5	2	2	3	rs142163190		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:41525928C>T	ENST00000396942.1	-	39	5334	c.5251G>A	c.(5251-5253)Gag>Aag	p.E1751K	ANK1_ENST00000379758.2_Missense_Mutation_p.E1751K|ANK1_ENST00000352337.4_Missense_Mutation_p.E1751K|ANK1_ENST00000347528.4_Missense_Mutation_p.E1751K|ANK1_ENST00000265709.8_Missense_Mutation_p.E1792K|ANK1_ENST00000396945.1_Missense_Mutation_p.E1751K|ANK1_ENST00000289734.7_Missense_Mutation_p.E1751K			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1751	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			AGGACCTTCTCGTACTCCTGA	0.582													11	59					0	0	1	0	0	T	41525928	C	T	41525928	3	4	234	1	0	0	0	0	1	0	0	0	616	893	31	1	736	1	ANK1	8	41525928	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	2690260	41525928	104838094	288	11034											
PDE7A	5150	broad.mit.edu	37	chr8	66753717	66753717	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accggcctgtccaggggcagTaccggcagctggtaacacac	9	5	13	14	2	0	0	0	0	0	0	1	0	1	0	4	5	3	5	4	5	2	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:66753717T>C	ENST00000401827.3	-	1	470	c.27A>G	c.(25-27)gtA>gtG	p.V9V	PDE7A_ENST00000396642.3_Silent_p.V9V	NM_001242318.2	NP_001229247.1	Q13946	PDE7A_HUMAN	phosphodiesterase 7A	9						cell fraction|cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10			Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Dyphylline(DB00651)|Ketotifen(DB00920)	CCAGGGGCAGTACCGGCAGCT	0.731													4	22					0	0	1	0	0	C	66753717	T	C	66753717	2	2	234	1	0	0	0	0	0	0	0	1	11698	1625	57	3		3	PDE7A	8	66753717	Silent	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	25227789	66753717	79610305	289	11035											
KIAA1429	25962	broad.mit.edu	37	chr8	95502188	95502188	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtagaactaaggggtcgtaAtggtggaagagggcctctgt	10	10	16	5	1	1	2	0	0	1	2	2	3	1	3	1	5	1	2	1	5	5	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:95502188A>G	ENST00000297591.5	-	23	5338	c.5263T>C	c.(5263-5265)Tta>Cta	p.L1755L	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1755					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			AGGGGTCGTAATGGTGGAAGA	0.418													13	36					0	0	1	0	0	G	95502188	A	G	95502188	2	3	234	1	0	0	0	0	0	0	0	1	8273	98	4	3		3	KIAA1429	8	95502188	Silent	SNP	A	TCGA-J9-A52C-01A-11D-A26M-08	28748471	95502188	50861834	290	11036											
SNX31	169166	broad.mit.edu	37	chr8	101586126	101586126	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctttatgttcccaaaaacGcagtcatctttagctatctt	10	16	4	11	1	3	0	1	0	2	0	5	0	5	0	2	0	2	3	2	0	5	7			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:101586126G>A	ENST00000311812.2	-	14	1440	c.1290C>T	c.(1288-1290)tgC>tgT	p.C430C	SNX31_ENST00000428383.2_Silent_p.C331C	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	430					cell communication|protein transport		phosphatidylinositol binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			TCCCAAAAACGCAGTCATCTT	0.348													3	26					0	0	1	0	0	A	101586126	G	A	101586126	2	1	234	1	0	0	0	0	0	0	0	1	14955	1079	38	1		1	SNX31	8	101586126	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	6083938	101586126	44777896	291	11037											
SNX31	169166	broad.mit.edu	37	chr8	101661556	101661556	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctgcagaagaggaacccGtccaggtgcacggagtacag	12	4	13	12	2	0	2	0	0	0	2	1	4	1	4	3	3	4	3	3	3	3	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:101661556G>A	ENST00000311812.2	-	2	237	c.87C>T	c.(85-87)gaC>gaT	p.D29D		NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	29	PX.				cell communication|protein transport		phosphatidylinositol binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			AGAGGAACCCGTCCAGGTGCA	0.627													6	51					0	0	1	0	0	A	101661556	G	A	101661556	2	1	234	1	0	0	0	0	0	0	0	1	14955	1136	40	1		1	SNX31	8	101661556	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	75430	101661556	44702466	292	11038											
SYBU	55638	broad.mit.edu	37	chr8	110587185	110587185	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcgaatgcagggcaaccaCgcaacagcccctgagcaagg	13	2	13	13	2	0	1	0	1	0	0	0	3	0	1	3	2	6	4	3	2	4	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:110587185C>T	ENST00000399066.3	-	6	2660	c.1933G>A	c.(1933-1935)Gtg>Atg	p.V645M	SYBU_ENST00000408908.2_Missense_Mutation_p.V648M|SYBU_ENST00000422135.1_Missense_Mutation_p.V648M|SYBU_ENST00000528647.1_Missense_Mutation_p.V647M|SYBU_ENST00000433638.1_Missense_Mutation_p.V648M|SYBU_ENST00000446070.2_Missense_Mutation_p.V647M|SYBU_ENST00000529175.1_Missense_Mutation_p.V442M|SYBU_ENST00000533171.1_Missense_Mutation_p.V648M|SYBU_ENST00000276646.9_Missense_Mutation_p.V648M|SYBU_ENST00000424158.2_Missense_Mutation_p.V653M|SYBU_ENST00000533895.1_Missense_Mutation_p.V647M|SYBU_ENST00000408889.3_Missense_Mutation_p.V529M|SYBU_ENST00000533065.1_Missense_Mutation_p.V529M|SYBU_ENST00000419099.1_Missense_Mutation_p.V647M|SYBU_ENST00000532779.1_Missense_Mutation_p.V580M|SYBU_ENST00000528331.1_Missense_Mutation_p.V529M|SYBU_ENST00000529690.1_Missense_Mutation_p.V518M|SYBU_ENST00000440310.1_Missense_Mutation_p.V648M	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	648						cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane		p.V645M(1)		NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						AGGGCAACCACGCAACAGCCC	0.577													21	82					0	0	1	0	0	T	110587185	C	T	110587185	3	4	234	1	0	0	0	0	1	0	0	0	15483	536	19	1	53	1	SYBU	8	110587185	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	8925629	110587185	35776837	293	11039											
TNFRSF11B	4982	broad.mit.edu	37	chr8	119936817	119936817	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgtcttggtcgccatttttTattcgccacaaactgagcag	8	14	9	10	2	1	1	0	1	1	0	3	1	1	1	2	1	2	1	2	1	2	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:119936817T>C	ENST00000297350.4	-	5	1380	c.1002A>G	c.(1000-1002)atA>atG	p.I334M		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	334	Death 2.				apoptosis|skeletal system development		cytokine activity|receptor activity			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			CGCCATTTTTTATTCGCCACA	0.453													19	115					0	0	1	0	0	C	119936817	T	C	119936817	3	2	234	1	0	0	0	0	1	0	0	0	16345	1744	61	3	207	3	TNFRSF11B	8	119936817	Missense_Mutation	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	9349632	119936817	26427205	294	11040											
FER1L6	654463	broad.mit.edu	37	chr8	124988246	124988246	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgaattcaagcatcatggcGaacgtcaccaaggcatttgt	13	10	9	9	2	3	1	3	1	0	0	3	2	3	1	1	2	2	2	1	2	4	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:124988246G>A	ENST00000522917.1	+	9	998	c.792G>A	c.(790-792)gcG>gcA	p.A264A	FER1L6_ENST00000399018.1_Silent_p.A264A	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	264	C2 2.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GCATCATGGCGAACGTCACCA	0.507													27	126					0	0	1	0	0	A	124988246	G	A	124988246	2	1	234	1	0	0	0	0	0	0	0	1	5848	1045	37	1		1	FER1L6	8	124988246	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	5051429	124988246	21375776	295	11041											
ASAP1	50807	broad.mit.edu	37	chr8	131073267	131073267	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atttctgaaagatttcgggcGggatggtggctttgtctagg	7	14	15	5	2	2	2	0	1	2	1	3	3	2	3	0	5	0	1	0	5	2	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:131073267G>A	ENST00000357668.1	-	27	2777	c.2750C>T	c.(2749-2751)cCg>cTg	p.P917L	ASAP1_ENST00000518721.1_Missense_Mutation_p.P917L			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	917	Pro-rich.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						GATTTCGGGCGGGATGGTGGC	0.532													14	118					0	0	1	0	0	A	131073267	G	A	131073267	3	1	234	1	0	0	0	0	1	0	0	0	1009	1116	39	1	651	1	ASAP1	8	131073267	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	6085021	131073267	15290755	296	11042											
TG	7038	broad.mit.edu	37	chr8	133909950	133909950	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgactcggctggagcatccGcccttctgcggtcgggcccc	4	7	13	17	5	1	0	0	0	1	0	4	2	2	1	4	4	2	2	4	4	0	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:133909950G>A	ENST00000220616.4	+	12	3098	c.3058G>A	c.(3058-3060)Gcc>Acc	p.A1020T	TG_ENST00000377869.1_Missense_Mutation_p.A1020T	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1020	Thyroglobulin type-1 8.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TGGAGCATCCGCCCTTCTGCG	0.587													20	78					0	0	1	0	0	A	133909950	G	A	133909950	3	1	234	1	0	0	0	0	1	0	0	0	15873	1087	38	1	3104	1	TG	8	133909950	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	2836683	133909950	12454072	297	11043											
PTK2	5747	broad.mit.edu	37	chr8	141727771	141727771	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctggactccatcctcatgcGctcttcttgctgagccttct	4	15	7	15	1	5	1	1	1	4	0	7	2	7	2	3	1	3	2	3	1	0	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:141727771G>A	ENST00000522684.1	-	23	2297	c.2068C>T	c.(2068-2070)Cgc>Tgc	p.R690C	PTK2_ENST00000519419.1_Missense_Mutation_p.R734C|PTK2_ENST00000517887.1_Missense_Mutation_p.R734C|PTK2_ENST00000430260.2_5'UTR|PTK2_ENST00000340930.3_Missense_Mutation_p.R690C|PTK2_ENST00000395218.2_Missense_Mutation_p.R690C|PTK2_ENST00000538769.1_Missense_Mutation_p.R358C|PTK2_ENST00000521059.1_Missense_Mutation_p.R690C|PTK2_ENST00000535192.1_Missense_Mutation_p.R690C|PTK2_ENST00000519465.1_Missense_Mutation_p.R318C	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	690					axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			ATCCTCATGCGCTCTTCTTGC	0.552													21	93					0	0	1	0	0	A	141727771	G	A	141727771	3	1	234	1	0	0	0	0	1	0	0	0	12812	1087	38	1	1130	1	PTK2	8	141727771	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	7817821	141727771	4636251	298	11044											
TSTA3	7264	broad.mit.edu	37	chr8	144696973	144696973	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaccatggtctcatctatcGggtaggtcgtcttgtcaggg	6	13	12	10	2	5	0	3	0	3	0	8	0	5	0	1	4	0	1	1	4	2	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:144696973G>T	ENST00000425753.2	-	4	477	c.374C>A	c.(373-375)cCg>cAg	p.P125Q	TSTA3_ENST00000529064.1_Missense_Mutation_p.P125Q	NM_003313.3	NP_003304.1	Q13630	FCL_HUMAN	tissue specific transplantation antigen P35B	125					'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion		coenzyme binding|electron carrier activity|GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|isomerase activity	p.P125L(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		NADH(DB00157)	CTCATCTATCGGGTAGGTCGT	0.657													8	65					3.07112e-06	3.10961e-06	1	1	0	T	144696973	G	T	144696973	3	4	234	1	0	0	0	0	1	0	0	0	16735	1116	39	4	623	4	TSTA3	8	144696973	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	2969202	144696973	1667049	299	11045											
EPPK1	83481	broad.mit.edu	37	chr8	144944144	144944144	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggagctgggcatagctcGtgcgcccctggccgtccggt	4	7	15	15	4	0	0	0	0	0	0	2	1	1	1	5	4	3	3	5	4	1	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:144944144G>A	ENST00000525985.1	-	2	3349	c.3278C>T	c.(3277-3279)aCg>aTg	p.T1093M				P58107	EPIPL_HUMAN	epiplakin 1	1093						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGCATAGCTCGTGCGCCCCTG	0.637													6	21					0	0	1	0	0	A	144944144	G	A	144944144	3	1	234	1	0	0	0	0	1	0	0	0	5218	1145	40	1	3988	1	EPPK1	8	144944144	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	247171	144944144	1419878	300	11046											
PLEC	5339	broad.mit.edu	37	chr8	145006673	145006673	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacattagctccttagtggcGgctgccacaaagctgtgcaa	10	9	10	12	1	0	0	0	0	0	0	1	0	1	0	2	2	4	4	2	2	4	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:145006673G>A	ENST00000322810.4	-	16	2452	c.2283C>T	c.(2281-2283)gcC>gcT	p.A761A	PLEC_ENST00000436759.2_Silent_p.A651A|PLEC_ENST00000398774.2_Silent_p.A592A|PLEC_ENST00000357649.2_Silent_p.A628A|PLEC_ENST00000356346.3_Silent_p.A610A|PLEC_ENST00000345136.3_Silent_p.A624A|PLEC_ENST00000527096.1_Silent_p.A647A|PLEC_ENST00000354589.3_Silent_p.A624A|PLEC_ENST00000354958.2_Silent_p.A602A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	761	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCTTAGTGGCGGCTGCCACAA	0.622													17	70					0	0	1	0	0	A	145006673	G	A	145006673	2	1	234	1	0	0	0	0	0	0	0	1	12100	1103	39	1		1	PLEC	8	145006673	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	62529	145006673	1357349	301	11047											
PARP10	84875	broad.mit.edu	37	chr8	145051834	145051834	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagcacgtggccaggaccccGcagagggggcgcccgcagac	8	1	17	15	4	0	2	0	0	0	2	0	4	0	3	4	4	1	3	4	4	0	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:145051834G>A	ENST00000313028.7	-	11	2990	c.2896C>T	c.(2896-2898)Cgg>Tgg	p.R966W	PARP10_ENST00000525773.1_Missense_Mutation_p.R978W|PARP10_ENST00000524918.1_Missense_Mutation_p.R957W	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	966	PARP catalytic.					Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding	p.R966W(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCAGGACCCCGCAGAGGGGGC	0.706													3	12					0	0	1	0	0	A	145051834	G	A	145051834	3	1	234	1	0	0	0	0	1	0	0	0	11502	1086	38	1	185	1	PARP10	8	145051834	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	45161	145051834	1312188	302	11048											
SPATC1	375686	broad.mit.edu	37	chr8	145095639	145095639	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaggcccagcccagtgccGcccaggaacaagtggtccct	9	4	11	17	1	0	0	0	0	0	0	1	1	1	1	5	3	3	0	5	3	2	0	rs140635744		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:145095639G>A	ENST00000377470.3	+	3	1039	c.937G>A	c.(937-939)Gcc>Acc	p.A313T	SPATC1_ENST00000447830.2_Missense_Mutation_p.A313T	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	313										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCCAGTGCCGCCCAGGAACA	0.672													6	38					0	0	1	0	0	A	145095639	G	A	145095639	3	1	234	1	0	0	0	0	1	0	0	0	15073	1087	38	1	947	1	SPATC1	8	145095639	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	43805	145095639	1268383	303	11049											
HSF1	3297	broad.mit.edu	37	chr8	145535421	145535421	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacagcagctccagcctctaCgcccctgatgctgtggccag	7	8	10	16	1	1	1	0	1	1	0	2	1	2	1	5	1	6	3	5	1	2	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr8:145535421C>T	ENST00000528838.1	+	8	919	c.759C>T	c.(757-759)taC>taT	p.Y253Y	HSF1_ENST00000400780.4_Silent_p.Y188Y	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	253	Regulatory domain.					cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			CCAGCCTCTACGCCCCTGATG	0.672													5	45					0	0	1	0	0	T	145535421	C	T	145535421	2	4	234	1	0	0	0	0	0	0	0	1	7436	547	19	1		1	HSF1	8	145535421	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	439782	145535421	828601	304	11050											
GLIS3	169792	broad.mit.edu	37	chr9	3856144	3856144	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaaggagctggaactctccGggggctgatgtggtgaggag	9	7	19	6	1	1	3	0	2	1	1	2	6	1	6	1	6	2	2	1	6	2	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:3856144G>A	ENST00000324333.10	-	8	2066	c.1873C>T	c.(1873-1875)Cgg>Tgg	p.R625W	GLIS3_ENST00000381971.3_Missense_Mutation_p.R780W|GLIS3_ENST00000461870.1_5'UTR	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	625					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GGAACTCTCCGGGGGCTGATG	0.463													6	22					0	0	1	0	0	A	3856144	G	A	3856144	3	1	234	1	0	0	0	0	1	0	0	0	6489	1115	39	1	466	1	GLIS3	9	3856144	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08		3856144	137357287	305	11051											
KIAA1432	57589	broad.mit.edu	37	chr9	5743014	5743014	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acacttggaggagattttgcGtaagtcaaaaaagacaattt	16	11	9	5	1	1	2	1	0	0	2	1	4	1	3	0	2	1	1	0	2	5	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:5743014G>A	ENST00000414202.2	+	9	1237		c.e9+1		KIAA1432_ENST00000449720.2_Splice_Site|KIAA1432_ENST00000418622.3_Splice_Site|KIAA1432_ENST00000381532.2_Splice_Site|KIAA1432_ENST00000251879.6_Splice_Site	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432							integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		GAGATTTTGCGTAAGTCAAAA	0.373													7	24					0	0	1	0	0	A	5743014	G	A	5743014	5	1	234	1	0	0	0	0	0	0	1	0	8275	1159	40	1	840	1	KIAA1432	9	5743014	Splice_Site	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1886870	5743014	135470417	306	11052											
TTC39B	158219	broad.mit.edu	37	chr9	15175097	15175097	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccaattcaaatagagtgaaCggcactaggtagtggtcata	14	9	11	7	1	2	2	2	1	0	1	2	2	2	2	1	3	1	2	1	3	7	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:15175097C>T	ENST00000355694.2	-	19	1914	c.1680G>A	c.(1678-1680)ccG>ccA	p.P560P	TTC39B_ENST00000297615.5_Silent_p.P557P|TTC39B_ENST00000507993.1_Silent_p.P461P|TTC39B_ENST00000507285.1_Silent_p.P461P|TTC39B_ENST00000512701.1_Silent_p.P626P|TTC39B_ENST00000380850.4_Silent_p.P613P	NM_001168339.1|NM_152574.2	NP_001161811.1|NP_689787.2	Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	560							binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						ATAGAGTGAACGGCACTAGGT	0.373													10	43					0	0	1	0	0	T	15175097	C	T	15175097	2	4	234	1	0	0	0	0	0	0	0	1	16770	523	19	1		1	TTC39B	9	15175097	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	9432083	15175097	126038334	307	11053											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18657652	18657652	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagattcgtaactcgggcTccgctgacagtacagtccag	9	9	11	12	3	0	2	0	1	0	1	4	2	2	2	2	1	3	5	2	1	2	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:18657652T>C	ENST00000380548.4	+	8	1189	c.850T>C	c.(850-852)Tcc>Ccc	p.S284P	ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.S284P|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.S284P|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.S284P	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	284						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TAACTCGGGCTCCGCTGACAG	0.493													7	22					0	0	1	0	0	C	18657652	T	C	18657652	3	2	234	1	0	0	0	0	1	0	0	0	273	1551	54	3	880	3	ADAMTSL1	9	18657652	Missense_Mutation	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	3482555	18657652	122555779	308	11054											
CDKN2A	1029	broad.mit.edu	37	chr9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcgtcgtgcacgggtcGggtgagagtggcggggtcgg	4	6	23	8	6	0	1	0	1	0	1	3	2	0	1	0	7	2	2	0	7	0	0	rs121913388		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			10	15					0	0	1	0	0	A	21971120	G	A	21971120	4	1	234	1	0	0	0	0	0	1	0	0	3183	1125	39	1	240	1	CDKN2A	9	21971120	Nonsense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	3313468	21971120	119242311	309	11055											
CDKN2B	1030	broad.mit.edu	37	chr9	22006196	22006196	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcgcagttgggctccgcGccgtggagcagcagcagctc	5	7	15	14	4	1	0	0	0	1	0	3	1	2	1	2	2	5	7	2	2	0	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:22006196G>A	ENST00000276925.6	-	2	616	c.207C>T	c.(205-207)ggC>ggT	p.G69G	CDKN2B-AS1_ENST00000455933.2_RNA|CDKN2B-AS1_ENST00000584020.1_RNA|CDKN2B-AS1_ENST00000580576.1_RNA|CDKN2B-AS1_ENST00000581051.1_RNA|CDKN2B-AS1_ENST00000468603.2_RNA|CDKN2B-AS1_ENST00000584816.1_RNA|CDKN2B-AS1_ENST00000582301.1_RNA|CDKN2B-AS1_ENST00000582072.1_RNA|CDKN2B-AS1_ENST00000577551.1_RNA|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2B-AS1_ENST00000580467.1_RNA|CDKN2B-AS1_ENST00000583719.1_RNA|CDKN2B-AS1_ENST00000428597.1_RNA|CDKN2B-AS1_ENST00000585267.1_RNA|CDKN2B-AS1_ENST00000584351.1_RNA|CDKN2B_ENST00000380142.4_3'UTR|CDKN2B-AS1_ENST00000584637.1_RNA	NM_004936.3|NM_078487.2	NP_004927.2|NP_511042.1	P42772	CDN2B_HUMAN	cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)	69					cell cycle arrest|cellular response to nutrient|G1 phase of mitotic cell cycle|G2/M transition of mitotic cell cycle|megakaryocyte differentiation|mitotic cell cycle G1/S transition checkpoint|negative regulation of epithelial cell proliferation|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	p.0(1)|p.0?(1)		lung(2)	2		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;1.31e-280)|Lung NSC(2;2.28e-131)|all_lung(2;2.11e-123)|Glioma(2;5.66e-57)|all_neural(2;3.05e-50)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;8.01e-33)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00369)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;3.29e-71)|Epithelial(2;9.08e-60)|LUSC - Lung squamous cell carcinoma(2;5.8e-46)|LUAD - Lung adenocarcinoma(2;1.43e-25)|BRCA - Breast invasive adenocarcinoma(2;5.37e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;6.92e-07)|KIRC - Kidney renal clear cell carcinoma(2;8.63e-07)|OV - Ovarian serous cystadenocarcinoma(39;0.014)|COAD - Colon adenocarcinoma(8;0.143)		TGGGCTCCGCGCCGTGGAGCA	0.692													7	32					0	0	1	0	0	A	22006196	G	A	22006196	2	1	234	1	0	0	0	0	0	0	0	1	3186	1074	38	1		1	CDKN2B	9	22006196	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	35076	22006196	119207235	310	11056											
B4GALT1	2683	broad.mit.edu	37	chr9	33135375	33135375	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgggttctgctttgccaCgagctccaggtccacaggca	7	11	11	12	1	1	0	0	0	1	0	3	1	3	0	3	3	3	4	3	3	0	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:33135375C>T	ENST00000379731.4	-	2	646	c.460G>A	c.(460-462)Gtg>Atg	p.V154M	B4GALT1_ENST00000535206.1_Missense_Mutation_p.V154M	NM_001497.3	NP_001488.2	P15291	B4GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1	154					oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	basolateral plasma membrane|brush border membrane|desmosome|external side of plasma membrane|extracellular region|glycocalyx|Golgi cisterna membrane|Golgi trans cisterna|integral to membrane	alpha-tubulin binding|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|beta-tubulin binding|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity|protein binding|protein homodimerization activity			endometrium(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)	14			LUSC - Lung squamous cell carcinoma(29;0.0084)	GBM - Glioblastoma multiforme(74;0.121)	N-Acetyl-D-glucosamine(DB00141)	TGCTTTGCCACGAGCTCCAGG	0.587													4	24					0	0	1	0	0	T	33135375	C	T	33135375	3	4	234	1	0	0	0	0	1	0	0	0	1268	536	19	1	756	1	B4GALT1	9	33135375	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	11129179	33135375	108078056	311	11057											
ANKRD20A1	84210	broad.mit.edu	37	chr9	67951950	67951950	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagtgtgtccccgagaaaGtgtcagagcctttacctgga	10	9	12	10	1	1	2	1	0	0	2	2	4	2	3	4	1	3	1	4	1	2	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:67951950G>A	ENST00000377477.2	+	9	1025	c.913G>A	c.(913-915)Gtg>Atg	p.V305M		NM_032250.3	NP_115626.2			ankyrin repeat domain 20 family, member A1											kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	11						CCCCGAGAAAGTGTCAGAGCC	0.343													16	103					0	0	1	0	0	A	67951950	G	A	67951950	3	1	234	1	0	0	0	0	1	0	0	0	644	1029	36	2	947	2	ANKRD20A1	9	67951950	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	34816575	67951950	73261481	312	11058											
PRKACG	5568	broad.mit.edu	37	chr9	71628907	71628907	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagctggcggtgttttgagcGgggtttccccatctgtagag	5	12	16	8	2	1	2	0	1	1	1	2	3	2	2	2	4	2	4	2	4	1	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:71628907G>A	ENST00000377276.2	-	1	132	c.102C>T	c.(100-102)ccC>ccT	p.P34P		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	34					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						TGTTTTGAGCGGGGTTTCCCC	0.627													10	38					0	0	1	0	0	A	71628907	G	A	71628907	2	1	234	1	0	0	0	0	0	0	0	1	12551	1103	39	1		1	PRKACG	9	71628907	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	3676957	71628907	69584524	313	11059											
FOXB2	442425	broad.mit.edu	37	chr9	79634892	79634892	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcttcctgcggcgtcgcaagCgcttcaaggtgctgcgcgcc	4	8	14	15	6	1	0	1	0	0	0	3	0	2	0	2	2	4	4	2	2	2	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:79634892C>T	ENST00000376708.1	+	1	322	c.322C>T	c.(322-324)Cgc>Tgc	p.R108C		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	108					brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|lung(8)|ovary(1)	10						GCGTCGCAAGCGCTTCAAGGT	0.692													11	44					0	0	1	0	0	T	79634892	C	T	79634892	3	4	234	1	0	0	0	0	1	0	0	0	6026	768	27	1	324	1	FOXB2	9	79634892	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	8005985	79634892	61578539	314	11060											
VPS13A	23230	broad.mit.edu	37	chr9	79898329	79898329	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagattttagcagaattatcGtgtttacagatctttattca	12	17	6	6	1	2	3	1	0	1	3	3	3	2	3	0	0	2	2	0	0	5	8			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:79898329G>A	ENST00000360280.3	+	30	3437	c.3177G>A	c.(3175-3177)tcG>tcA	p.S1059S	VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000376634.4_Silent_p.S1059S|VPS13A_ENST00000376636.3_Intron|VPS13A_ENST00000357409.5_Silent_p.S1059S	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1059					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CAGAATTATCGTGTTTACAGA	0.244													4	12					0	0	1	0	0	A	79898329	G	A	79898329	2	1	234	1	0	0	0	0	0	0	0	1	17249	1132	40	1		1	VPS13A	9	79898329	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	263437	79898329	61315102	315	11061											
C9orf89	84270	broad.mit.edu	37	chr9	95869990	95869990	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccgcctggtgcaggacacGcctttcctgacaggccatgg	7	7	13	14	2	0	1	0	1	0	0	1	3	1	2	5	4	1	1	5	4	0	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:95869990G>A	ENST00000375464.2	+	2	170	c.42G>A	c.(40-42)acG>acA	p.T14T		NM_032310.3	NP_115686.3	Q96LW7	BINCA_HUMAN	chromosome 9 open reading frame 89	14	CARD.				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|nucleus	CARD domain binding			endometrium(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						TGCAGGACACGCCTTTCCTGA	0.562													5	27					0	0	1	0	0	A	95869990	G	A	95869990	2	1	234	1	0	0	0	0	0	0	0	1	2521	1074	38	1		1	C9orf89	9	95869990	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	15971661	95869990	45343441	316	11062											
GABBR2	9568	broad.mit.edu	37	chr9	101258793	101258793	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aactccagtcaggtcattccGcacctgtcagcaaagagaaa	14	7	8	12	1	3	1	3	0	0	1	5	2	5	1	3	1	2	2	3	1	3	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:101258793G>A	ENST00000259455.2	-	4	1093	c.634C>T	c.(634-636)Cgg>Tgg	p.R212W	GABBR2_ENST00000477471.1_5'UTR	NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	212					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	AGGTCATTCCGCACCTGTCAG	0.547													5	28					0	0	1	0	0	A	101258793	G	A	101258793	3	1	234	1	0	0	0	0	1	0	0	0	6191	1086	38	1	2255	1	GABBR2	9	101258793	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	5388803	101258793	39954638	317	11063											
PALM2-AKAP2	0	broad.mit.edu	37	chr9	112898442	112898442	+	Frame_Shift_Del	DEL	A	A	-																															tctgaggatgatatctggctAaaaagcgagggagacaacta																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:112898442delA	ENST00000374530.3	+	8	798	c.618delA	c.(616-618)ctfs	p.L206fs	AKAP2_ENST00000374525.1_Frame_Shift_Del_p.L64fs|AKAP2_ENST00000510514.5_Frame_Shift_Del_p.L206fs|PALM2-AKAP2_ENST00000302798.7_Frame_Shift_Del_p.L206fs|AKAP2_ENST00000434623.2_Frame_Shift_Del_p.L64fs|AKAP2_ENST00000555236.1_Frame_Shift_Del_p.L206fs|AKAP2_ENST00000259318.7_5'UTR	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		197							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						ATATCTGGCTAAAAAGCGAGG	0.463													12	68	---	---	---	---						-	112898442	A	-	112898442	7	5	234	1	0	1	0	1	0	0	0	0	11457	349	13	0	648	0	PALM2-AKAP2	9	112898442	Frame_Shift_Del	DEL	A	TCGA-J9-A52C-01A-11D-A26M-08	11639649	112898442	28314989	318	11064											
COL27A1	85301	broad.mit.edu	37	chr9	116984538	116984538	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggcccccctggagtcccCggcctcattgtaagtacatt	7	9	9	16	1	1	0	1	0	0	0	2	1	2	1	7	3	1	2	7	3	2	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:116984538C>T	ENST00000356083.3	+	14	2848	c.2457C>T	c.(2455-2457)ccC>ccT	p.P819P		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	819	Collagen-like 4.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CTGGAGTCCCCGGCCTCATTG	0.637													25	74					0	0	1	0	0	T	116984538	C	T	116984538	2	4	234	1	0	0	0	0	0	0	0	1	3708	639	23	1		1	COL27A1	9	116984538	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	4086096	116984538	24228893	319	11065											
LHX6	26468	broad.mit.edu	37	chr9	124975893	124975893	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcggttacttactctcaatgTagccgtgcagggtgaccatg	8	11	12	10	2	1	1	1	1	1	0	2	1	1	1	2	2	4	3	2	2	4	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:124975893T>C	ENST00000559895.1	-	5	1276	c.398A>G	c.(397-399)tAc>tGc	p.Y133C	LHX6_ENST00000541397.2_Missense_Mutation_p.Y338C|LHX6_ENST00000394319.4_Missense_Mutation_p.Y349C|LHX6_ENST00000464484.2_Missense_Mutation_p.Y7C|LHX6_ENST00000373754.2_Missense_Mutation_p.Y320C|LHX6_ENST00000482062.1_Missense_Mutation_p.Y7C|LHX6_ENST00000373755.2_Missense_Mutation_p.Y320C|LHX6_ENST00000340587.3_Missense_Mutation_p.Y349C	NM_001242335.1	NP_001229264.1	Q9UPM6	LHX6_HUMAN	LIM homeobox 6	320	LIM zinc-binding 2.|Required for interaction with LBD1 (By similarity).				cell maturation|cerebral cortex GABAergic interneuron migration|cerebral cortex radially oriented cell migration|cerebral cortex tangential migration	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(5)	8						ACTCTCAATGTAGCCGTGCAG	0.736													7	25					0	0	1	0	0	C	124975893	T	C	124975893	3	2	234	1	0	0	0	0	1	0	0	0	8815	1638	57	3	203	3	LHX6	9	124975893	Missense_Mutation	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	7991355	124975893	16237538	320	11066											
LHX2	9355	broad.mit.edu	37	chr9	126794853	126794853	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgctcagcccctccagcaCgcccaccaccctgacagact	8	5	6	22	2	1	2	1	1	0	1	3	2	2	2	6	0	2	2	6	0	0	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:126794853C>T	ENST00000373615.4	+	5	1827	c.1088C>T	c.(1087-1089)aCg>aTg	p.T363M		NM_004789.3	NP_004780.3	P50458	LHX2_HUMAN	LIM homeobox 2	363						nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)	10						CCCTCCAGCACGCCCACCACC	0.657													8	41					0	0	1	0	0	T	126794853	C	T	126794853	3	4	234	1	0	0	0	0	1	0	0	0	8811	536	19	1	1106	1	LHX2	9	126794853	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	1818960	126794853	14418578	321	11067											
OLFML2A	169611	broad.mit.edu	37	chr9	127549357	127549357	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggacgcgtgtagccgagtgcGcagtgggcgggcacgcgtgg	5	5	21	10	7	0	0	0	0	0	0	0	2	0	1	1	4	2	3	1	4	1	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:127549357G>A	ENST00000373580.3	+	2	194	c.194G>A	c.(193-195)cGc>cAc	p.R65H		NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	65										endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						AGCCGAGTGCGCAGTGGGCGG	0.647													9	61					0	0	1	0	0	A	127549357	G	A	127549357	3	1	234	1	0	0	0	0	1	0	0	0	10905	1087	38	1	200	1	OLFML2A	9	127549357	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	754504	127549357	13664074	322	11068											
RALGPS1	9649	broad.mit.edu	37	chr9	129974998	129974998	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggggcacagacagaaaacaCgtaagtcccttgaaaggact	15	5	11	10	2	0	3	0	1	0	2	1	4	1	4	1	3	1	2	1	3	4	2	rs149497407	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:129974998C>T	ENST00000259351.5	+	16	1713	c.1446_splice	c.e16+1	p.H482_splice	RALGPS1_ENST00000424082.2_Splice_Site_p.H440_splice|RALGPS1_ENST00000373434.1_Splice_Site_p.H440_splice	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	482	PH.|Required for stimulation of nucleotide exchange by RALA.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity	p.H440H(1)|p.H482H(1)		kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						ACAGAAAACACGTAAGTCCCT	0.552													4	29					0	0	1	0	0	T	129974998	C	T	129974998	5	4	234	1	0	0	0	0	0	0	1	0	13069	550	19	1	1504	1	RALGPS1	9	129974998	Splice_Site	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	2425641	129974998	11238433	323	11069											
TTC16	158248	broad.mit.edu	37	chr9	130489367	130489367	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtggagggcagcctgcaggCcggcagcccacaaggcattg	8	4	17	12	1	0	0	0	0	0	0	0	1	0	1	3	6	3	4	3	6	1	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:130489367C>T	ENST00000373289.3	+	11	1624	c.1544C>T	c.(1543-1545)gCc>gTc	p.A515V	TTC16_ENST00000489226.1_3'UTR	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	515							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						AGCCTGCAGGCCGGCAGCCCA	0.662													6	27					0	0	1	0	0	T	130489367	C	T	130489367	3	4	234	1	0	0	0	0	1	0	0	0	16745	739	26	2	1586	2	TTC16	9	130489367	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	514369	130489367	10724064	324	11070											
SLC27A4	10999	broad.mit.edu	37	chr9	131115025	131115025	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtatcaagtacaactgcaCggtgagcgagagcgggaagg	12	7	15	7	3	1	2	1	1	0	1	1	4	1	3	0	3	5	3	0	3	5	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:131115025C>T	ENST00000300456.3	+	7	1103	c.987_splice	c.e7+1	p.T329_splice	SLC27A4_ENST00000372870.1_Intron	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4	329					long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						TACAACTGCACGGTGAGCGAG	0.567													4	41					0	0	1	0	0	T	131115025	C	T	131115025	5	4	234	1	0	0	0	0	0	0	1	0	14583	550	19	1	1008	1	SLC27A4	9	131115025	Splice_Site	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	625658	131115025	10098406	325	11071											
SPTAN1	6709	broad.mit.edu	37	chr9	131381261	131381261	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggccagcgaagattatggCgacactcttgccgccatcca	9	8	11	13	3	1	1	0	0	1	1	2	3	2	1	4	2	2	0	4	2	2	2	rs150960451		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:131381261C>T	ENST00000358161.5	+	44	5825	c.5712C>T	c.(5710-5712)ggC>ggT	p.G1904G	SPTAN1_ENST00000372731.4_Silent_p.G1899G|SPTAN1_ENST00000372739.3_Silent_p.G1904G			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1899					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						AAGATTATGGCGACACTCTTG	0.493													8	27					0	0	1	0	0	T	131381261	C	T	131381261	2	4	234	1	0	0	0	0	0	0	0	1	15173	755	27	1		1	SPTAN1	9	131381261	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	266236	131381261	9832170	326	11072											
RAPGEF1	2889	broad.mit.edu	37	chr9	134518638	134518638	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccactcacctgtgctgaattCgaggatcgttctgcaccagg	8	10	10	13	2	2	1	1	1	1	0	4	3	2	2	3	2	2	3	3	2	1	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:134518638C>T	ENST00000372195.1	-	4	725	c.482G>A	c.(481-483)cGa>cAa	p.R161Q	RAPGEF1_ENST00000372189.3_Missense_Mutation_p.R144Q|RAPGEF1_ENST00000372190.3_Missense_Mutation_p.R162Q|RAPGEF1_ENST00000481260.1_5'UTR			Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	144					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GTGCTGAATTCGAGGATCGTT	0.507													3	17					0	0	1	0	0	T	134518638	C	T	134518638	3	4	234	1	0	0	0	0	1	0	0	0	13095	884	31	1	2886	1	RAPGEF1	9	134518638	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	3137377	134518638	6694793	327	11073											
DBH	1621	broad.mit.edu	37	chr9	136509362	136509362	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	attttactacccagaggaagCcggccttgccttcgggggtc	7	10	12	12	2	0	1	0	0	0	1	2	2	0	2	4	4	4	0	4	4	3	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:136509362C>T	ENST00000393056.2	+	5	956	c.944C>T	c.(943-945)gCc>gTc	p.A315V		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	315					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	CCAGAGGAAGCCGGCCTTGCC	0.602													10	83					0	0	1	0	0	T	136509362	C	T	136509362	3	4	234	1	0	0	0	0	1	0	0	0	4274	739	26	2	962	2	DBH	9	136509362	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	1990724	136509362	4704069	328	11074											
SARDH	1757	broad.mit.edu	37	chr9	136568130	136568130	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgcggctcccgtaagcccCgtagtagtcgtactcgagga	7	7	13	14	7	0	0	0	0	0	0	3	2	1	1	3	2	2	5	3	2	4	4	rs148314623		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:136568130C>T	ENST00000371872.4	-	13	1833	c.1576G>A	c.(1576-1578)Ggg>Agg	p.G526R	SARDH_ENST00000422262.2_Missense_Mutation_p.G358R|SARDH_ENST00000371868.1_5'UTR|SARDH_ENST00000439388.1_Missense_Mutation_p.G526R	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	526					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity	p.G526W(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		CCGTAAGCCCCGTAGTAGTCG	0.667													8	31					0	0	1	0	0	T	136568130	C	T	136568130	3	4	234	1	0	0	0	0	1	0	0	0	13894	652	23	1	1216	1	SARDH	9	136568130	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	58768	136568130	4645301	329	11075											
RXRA	6256	broad.mit.edu	37	chr9	137321060	137321060	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caccggaacagcgcccacagCgcaggggtgggcgccatctt	8	4	14	15	4	1	0	0	0	1	0	1	1	1	1	3	4	3	1	3	4	1	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:137321060C>T	ENST00000540193.1	+	6	1649	c.726C>T	c.(724-726)agC>agT	p.S242S	RXRA_ENST00000356384.4_3'UTR|RXRA_ENST00000481739.1_Silent_p.S339S			P19793	RXRA_HUMAN	retinoid X receptor, alpha	339	Ligand-binding.				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	GCGCCCACAGCGCAGGGGTGG	0.687													21	77					0	0	1	0	0	T	137321060	C	T	137321060	2	4	234	1	0	0	0	0	0	0	0	1	13815	767	27	1		1	RXRA	9	137321060	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	752930	137321060	3892371	330	11076											
CAMSAP1	157922	broad.mit.edu	37	chr9	138707776	138707776	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagggaagatgccgccgaCgcggtctcccagtctcggtc	6	6	14	15	5	2	1	0	0	2	1	5	3	2	2	4	3	1	0	4	3	1	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:138707776C>T	ENST00000389532.4	-	15	4411	c.4347G>A	c.(4345-4347)gcG>gcA	p.A1449A	CAMSAP1_ENST00000409386.3_Silent_p.A1460A|CAMSAP1_ENST00000312405.6_Silent_p.A1171A|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1449						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		ATGCCGCCGACGCGGTCTCCC	0.612													7	79					0	0	1	0	0	T	138707776	C	T	138707776	2	4	234	1	0	0	0	0	0	0	0	1	2629	523	19	1		1	CAMSAP1	9	138707776	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	1386716	138707776	2505655	331	11077											
CAMSAP1	157922	broad.mit.edu	37	chr9	138714575	138714575	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaaaagtcctattcaagtcGcgactgccagtcattttcct	10	13	7	11	2	2	0	2	0	0	0	5	1	4	0	3	0	1	1	3	0	4	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:138714575G>A	ENST00000389532.4	-	11	1996	c.1932C>T	c.(1930-1932)cgC>cgT	p.R644R	CAMSAP1_ENST00000409386.3_Silent_p.R655R|CAMSAP1_ENST00000312405.6_Silent_p.R366R|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	644						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		TATTCAAGTCGCGACTGCCAG	0.587													11	39					0	0	1	0	0	A	138714575	G	A	138714575	2	1	234	1	0	0	0	0	0	0	0	1	2629	1074	38	1		1	CAMSAP1	9	138714575	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	6799	138714575	2498856	332	11078											
SNAPC4	6621	broad.mit.edu	37	chr9	139289316	139289316	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccttctctcgtgtgtcctcGttggcaggtggcccctgtca	2	13	12	14	2	2	0	1	0	1	0	6	0	3	0	4	3	0	2	4	3	0	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:139289316G>A	ENST00000298532.2	-	5	854	c.486C>T	c.(484-486)aaC>aaT	p.N162N		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	162					snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GTGTGTCCTCGTTGGCAGGTG	0.632													4	36					0	0	1	0	0	A	139289316	G	A	139289316	2	1	234	1	0	0	0	0	0	0	0	1	14891	1136	40	1		1	SNAPC4	9	139289316	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	574741	139289316	1924115	333	11079											
SEC16A	9919	broad.mit.edu	37	chr9	139369757	139369757	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgccgagcttgggttccGtgactgctgcccggacatcg	4	8	15	14	5	0	1	0	1	0	0	2	3	1	2	4	3	3	3	4	3	0	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr9:139369757G>A	ENST00000313050.7	-	1	2384	c.2311C>T	c.(2311-2313)Cgg>Tgg	p.R771W	SEC16A_ENST00000290037.6_Missense_Mutation_p.R593W|SEC16A_ENST00000431893.2_Missense_Mutation_p.R593W|SEC16A_ENST00000371706.3_Missense_Mutation_p.R593W	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	593					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CTTGGGTTCCGTGACTGCTGC	0.612													3	28					0	0	1	0	0	A	139369757	G	A	139369757	3	1	234	1	0	0	0	0	1	0	0	0	14040	1144	40	1	4882	1	SEC16A	9	139369757	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	80441	139369757	1843674	334	11080											
ADARB2	105	broad.mit.edu	37	chr10	1405754	1405754	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggacctgagtgccagctcCgccgcgcgcatcttggcctt	6	8	12	15	4	1	1	0	1	1	0	2	2	2	2	5	2	2	2	5	2	1	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:1405754C>T	ENST00000381312.1	-	3	871	c.546G>A	c.(544-546)gcG>gcA	p.A182A		NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	182	DRBM 1.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GTGCCAGCTCCGCCGCGCGCA	0.711													5	28					0	0	1	0	0	T	1405754	C	T	1405754	2	4	234	1	0	0	0	0	0	0	0	1	282	639	23	1		1	ADARB2	10	1405754	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08		1405754	134128993	335	11081											
PITRM1	10531	broad.mit.edu	37	chr10	3180260	3180260	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgggtccttggcaattttcGggttctcgggtccgaggatg	5	13	15	8	3	1	0	0	0	1	0	5	2	3	1	2	5	0	2	2	5	1	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:3180260G>A	ENST00000380989.2	-	27	3118	c.3080C>T	c.(3079-3081)cCg>cTg	p.P1027L	PITRM1_ENST00000464395.1_5'UTR|PITRM1_ENST00000380994.1_Missense_Mutation_p.P584L|PITRM1_ENST00000451104.2_Missense_Mutation_p.P928L|PITRM1_ENST00000224949.4_Missense_Mutation_p.P1026L	NM_001242307.1|NM_014889.3	NP_001229236.1|NP_055704.2	E7ES23	E7ES23_HUMAN	pitrilysin metallopeptidase 1	928					proteolysis		metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						GGCAATTTTCGGGTTCTCGGG	0.582													4	18					0	0	1	0	0	A	3180260	G	A	3180260	3	1	234	1	0	0	0	0	1	0	0	0	12001	1116	39	1	40	1	PITRM1	10	3180260	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1774506	3180260	132354487	336	11082											
CUBN	8029	broad.mit.edu	37	chr10	16989253	16989253	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cataaaagacagctggagccGgttgccaggggaactgacga	13	5	14	9	2	0	2	0	1	0	1	0	5	0	4	2	4	4	2	2	4	3	2	rs1276708		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:16989253G>A	ENST00000377833.4	-	36	5388	c.5323C>T	c.(5323-5325)Cgg>Tgg	p.R1775W		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1775	CUB 12.		R -> W (in dbSNP:rs1276708).		cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.R1775W(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGCTGGAGCCGGTTGCCAGGG	0.453													4	21					0	0	1	0	0	A	16989253	G	A	16989253	3	1	234	1	0	0	0	0	1	0	0	0	4074	1115	39	1	5676	1	CUBN	10	16989253	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	13808993	16989253	118545494	337	11083											
MYO3A	53904	broad.mit.edu	37	chr10	26455002	26455002	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttttccattccaaggtactaCcttctctgctacaagtcgag	9	14	6	12	1	1	0	0	0	1	0	5	1	3	0	3	1	4	2	3	1	5	7			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:26455002C>T	ENST00000265944.5	+	27	3172	c.3006C>T	c.(3004-3006)taC>taT	p.Y1002Y	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1002	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CAAGGTACTACCTTCTCTGCT	0.502													28	136					0	0	1	0	0	T	26455002	C	T	26455002	2	4	234	1	0	0	0	0	0	0	0	1	10124	518	18	2		2	MYO3A	10	26455002	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	9465749	26455002	109079745	338	11084											
KIAA1462	57608	broad.mit.edu	37	chr10	30315489	30315489	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcgaagaacttggactcCaaggggctgggctcaggctc	8	9	14	10	1	1	1	1	0	0	1	4	3	2	2	1	5	1	4	1	5	3	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:30315489C>T	ENST00000375377.1	-	3	3689	c.3588G>A	c.(3586-3588)ttG>ttA	p.L1196L		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	1196										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						ACTTGGACTCCAAGGGGCTGG	0.547													28	139					0	0	1	0	0	T	30315489	C	T	30315489	2	4	234	1	0	0	0	0	0	0	0	1	8276	593	21	2		2	KIAA1462	10	30315489	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	3860487	30315489	105219258	339	11085											
PHYHIPL	84457	broad.mit.edu	37	chr10	60994140	60994140	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacatcaaaataagcaatatAacgtgtgactcattcaagat	19	10	5	7	1	3	2	3	1	0	1	3	2	3	2	0	0	3	1	0	0	8	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:60994140A>G	ENST00000373880.4	+	2	447	c.183A>G	c.(181-183)atA>atG	p.I61M	PHYHIPL_ENST00000373878.3_Missense_Mutation_p.I35M	NM_032439.3	NP_115815.2	Q96FC7	PHIPL_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein-like	61	Fibronectin type-III.									NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(3)|skin(1)|urinary_tract(1)	18						TAAGCAATATAACGTGTGACT	0.368													4	24					0	0	1	0	0	G	60994140	A	G	60994140	3	3	234	1	0	0	0	0	1	0	0	0	11915	352	13	3	221	3	PHYHIPL	10	60994140	Missense_Mutation	SNP	A	TCGA-J9-A52C-01A-11D-A26M-08	30678651	60994140	74540607	340	11086											
ANK3	288	broad.mit.edu	37	chr10	61819478	61819478	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agacatacattctccaactgGctctcatctacatccactgc	11	11	4	15	0	3	1	1	0	3	1	6	1	4	1	2	1	4	1	2	1	3	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:61819478G>A	ENST00000373827.2	-	40	5195	c.5025C>T	c.(5023-5025)agC>agT	p.S1675S	RP11-388P9.2_ENST00000414383.1_RNA|ANK3_ENST00000355288.2_Silent_p.S815S|ANK3_ENST00000503366.1_Silent_p.S1682S|ANK3_ENST00000280772.1_Intron	NM_001204403.1	NP_001191332.1	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3753	Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCTCCAACTGGCTCTCATCTA	0.458													11	101					0	0	1	0	0	A	61819478	G	A	61819478	2	1	234	1	0	0	0	0	0	0	0	1	618	1194	42	2		2	ANK3	10	61819478	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	825338	61819478	73715269	341	11087											
UNC5B	219699	broad.mit.edu	37	chr10	73048739	73048739	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaaactctaagcgaccccaAcagccaccgtaagtcccatt	14	6	6	15	2	1	0	0	0	1	0	2	2	2	0	5	0	4	1	5	0	5	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:73048739A>T	ENST00000335350.6	+	8	1507	c.1091A>T	c.(1090-1092)aAc>aTc	p.N364I	UNC5B_ENST00000373192.4_Intron	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	364					apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						AGCGACCCCAACAGCCACCGT	0.522													7	21					0	0	1	0	0	T	73048739	A	T	73048739	3	4	234	1	0	0	0	0	1	0	0	0	17052	43	2	5	1121	5	UNC5B	10	73048739	Missense_Mutation	SNP	A	TCGA-J9-A52C-01A-11D-A26M-08	11229261	73048739	62486008	342	11088											
AP3M1	26985	broad.mit.edu	37	chr10	75888897	75888897	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacacggtatgatatgagtcGgaaatttccatctggaggaa	13	10	12	6	2	1	2	0	2	1	0	3	6	2	5	1	4	0	1	1	4	4	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:75888897G>A	ENST00000355264.4	-	6	1083	c.772C>T	c.(772-774)Cga>Tga	p.R258*	AP3M1_ENST00000372745.1_Nonsense_Mutation_p.R258*	NM_012095.4	NP_036227.1	Q9Y2T2	AP3M1_HUMAN	adaptor-related protein complex 3, mu 1 subunit	258	MHD.				protein targeting to lysosome|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus|lysosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13	Prostate(51;0.0112)					GATATGAGTCGGAAATTTCCA	0.438													9	43					0	0	1	0	0	A	75888897	G	A	75888897	4	1	234	1	0	0	0	0	0	1	0	0	743	1124	39	1	500	1	AP3M1	10	75888897	Nonsense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	2840158	75888897	59645850	343	11089											
DUSP13	0	broad.mit.edu	37	chr10	76861673	76861673	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttctctgacgggcagttcGtgctgctggctttcagccgc	4	12	12	13	3	2	1	1	1	1	0	4	1	2	1	1	2	3	5	1	2	0	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:76861673G>A	ENST00000491677.2	-	5	880	c.338C>T	c.(337-339)aCg>aTg	p.T113M	DUSP13_ENST00000607131.1_Missense_Mutation_p.T77M|DUSP13_ENST00000607009.1_Intron|DUSP13_ENST00000372700.3_Intron|DUSP13_ENST00000372702.3_3'UTR	NM_001007271.1	NP_001007272.1	Q6B8I1	MDSP_HUMAN	dual specificity phosphatase 13	0	Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CGGGCAGTTCGTGCTGCTGGC	0.522													22	73					0	0	1	0	0	A	76861673	G	A	76861673	3	1	234	1	0	0	0	0	1	0	0	0	4839	1145	40	1	661	1	DUSP13	10	76861673	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	972776	76861673	58673074	344	11090											
WAPAL	23063	broad.mit.edu	37	chr10	88277682	88277682	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gatatctggtttgaaattggGcctcttctgccctaatttag	8	16	9	8	0	3	1	0	1	3	0	3	2	3	1	2	2	1	1	2	2	4	7			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:88277682G>A	ENST00000298767.5	-	2	617	c.145C>T	c.(145-147)Ccc>Tcc	p.P49S		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	49	Mediates interaction with the cohesin complex.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						TTGAAATTGGGCCTCTTCTGC	0.403													6	31					0	0	1	0	0	A	88277682	G	A	88277682	3	1	234	1	0	0	0	0	1	0	0	0	17308	1203	42	2	3499	2	WAPAL	10	88277682	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	11416009	88277682	47257065	345	11091											
MMRN2	79812	broad.mit.edu	37	chr10	88702895	88702895	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcgccctccgctttgtgcGcgtccacggccagcgacacg	4	7	12	18	7	0	0	0	0	0	0	3	1	2	0	4	1	2	2	4	1	0	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:88702895G>A	ENST00000372027.4	-	6	1719	c.1646C>T	c.(1645-1647)gCg>gTg	p.A549V		NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	549						extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						CGCTTTGTGCGCGTCCACGGC	0.751													3	7					0	0	1	0	0	A	88702895	G	A	88702895	3	1	234	1	0	0	0	0	1	0	0	0	9720	1087	38	1	1211	1	MMRN2	10	88702895	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	425213	88702895	46831852	346	11092											
POLL	27343	broad.mit.edu	37	chr10	103343363	103343363	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgatatggtccagcttccGcaaatgcccgctctccagga	9	9	9	14	2	1	1	0	1	1	0	4	2	3	2	4	2	2	3	4	2	2	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:103343363G>A	ENST00000370162.3	-	6	1461	c.967C>T	c.(967-969)Cgg>Tgg	p.R323W	DPCD_ENST00000470165.1_Intron|POLL_ENST00000456836.2_Missense_Mutation_p.R60W|POLL_ENST00000436284.2_3'UTR|DPCD_ENST00000416979.2_Intron|POLL_ENST00000370158.3_Missense_Mutation_p.R48W|POLL_ENST00000370169.1_Missense_Mutation_p.R323W|POLL_ENST00000370172.1_Missense_Mutation_p.R235W|POLL_ENST00000339310.3_Missense_Mutation_p.R46W|POLL_ENST00000299206.4_Missense_Mutation_p.R323W	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	323					DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		TCCAGCTTCCGCAAATGCCCG	0.562								DNA polymerases (catalytic subunits)					15	50					0	0	1	0	0	A	103343363	G	A	103343363	3	1	234	1	0	0	0	0	1	0	0	0	12253	1086	38	1	776	1	POLL	10	103343363	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	14640468	103343363	32191384	347	11093											
NT5C2	22978	broad.mit.edu	37	chr10	104859733	104859733	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacatcctggaacatactccGgtaggacatgaagaggtccc	12	8	10	11	1	0	2	0	1	0	1	3	4	3	4	3	4	3	1	3	4	5	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:104859733G>A	ENST00000343289.5	-	8	670	c.583C>T	c.(583-585)Cgg>Tgg	p.R195W	NT5C2_ENST00000369857.4_5'UTR|NT5C2_ENST00000423468.2_Missense_Mutation_p.R166W|NT5C2_ENST00000404739.3_Missense_Mutation_p.R195W	NM_001134373.2|NM_012229.4	NP_001127845.1|NP_036361.1	P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II	195					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	AACATACTCCGGTAGGACATG	0.393													10	87					0	0	1	0	0	A	104859733	G	A	104859733	3	1	234	1	0	0	0	0	1	0	0	0	10735	1115	39	1	1146	1	NT5C2	10	104859733	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1516370	104859733	30675014	348	11094											
CALHM1	255022	broad.mit.edu	37	chr10	105215431	105215431	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgaggaaggcggcctgcGtgaagcagggccgcacagag	9	5	17	10	3	1	3	0	2	1	1	1	4	1	4	2	4	2	2	2	4	2	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:105215431G>A	ENST00000329905.5	-	2	765	c.629C>T	c.(628-630)aCg>aTg	p.T210M	RP11-225H22.4_ENST00000411906.1_RNA	NM_001001412.3	NP_001001412.3	Q8IU99	CAHM1_HUMAN	calcium homeostasis modulator 1	210						endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel activity|identical protein binding			large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						GGCGGCCTGCGTGAAGCAGGG	0.612													10	34					0	0	1	0	0	A	105215431	G	A	105215431	3	1	234	1	0	0	0	0	1	0	0	0	2600	1145	40	1	415	1	CALHM1	10	105215431	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	355698	105215431	30319316	349	11095											
DCLRE1A	9937	broad.mit.edu	37	chr10	115610038	115610038	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctgagttgtttgcaagacGcaaagcaactcccactagtt	11	12	8	10	1	1	2	0	1	1	1	2	2	2	2	1	0	3	6	1	0	4	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:115610038G>A	ENST00000361384.2	-	2	1743	c.826C>T	c.(826-828)Cgt>Tgt	p.R276C	DCLRE1A_ENST00000369305.1_Missense_Mutation_p.R276C	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	276					cell division|mitosis	nucleus	hydrolase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		TTTGCAAGACGCAAAGCAACT	0.383								Other identified genes with known or suspected DNA repair function					10	45					0	0	1	0	0	A	115610038	G	A	115610038	3	1	234	1	0	0	0	0	1	0	0	0	4317	1087	38	1	2328	1	DCLRE1A	10	115610038	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	10394607	115610038	19924709	350	11096											
PDZD8	118987	broad.mit.edu	37	chr10	119044583	119044583	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catctttggactgaattttcGgtggtagtgggtgacttcct	6	16	12	7	1	1	2	0	2	1	0	3	3	2	3	1	4	0	1	1	4	2	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:119044583G>A	ENST00000334464.5	-	5	1900	c.1661C>T	c.(1660-1662)cCg>cTg	p.P554L	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	554	Pro-rich.				intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		CTGAATTTTCGGTGGTAGTGG	0.423													15	64					0	0	1	0	0	A	119044583	G	A	119044583	3	1	234	1	0	0	0	0	1	0	0	0	11752	1116	39	1	1807	1	PDZD8	10	119044583	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	3434545	119044583	16490164	351	11097											
TACC2	10579	broad.mit.edu	37	chr10	123970380	123970380	+	Frame_Shift_Del	DEL	C	C	-																															caccaagaaacccacagagaCccccccagtgaaggagacgc																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:123970380delC	ENST00000369005.1	+	9	6780	c.6440delC	c.(6439-6441)acfs	p.T2147fs	TACC2_ENST00000453444.2_Frame_Shift_Del_p.T2151fs|TACC2_ENST00000360561.3_Frame_Shift_Del_p.T225fs|TACC2_ENST00000334433.3_Frame_Shift_Del_p.T2147fs|TACC2_ENST00000358010.1_Frame_Shift_Del_p.T293fs|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000368999.1_Frame_Shift_Del_p.T225fs|TACC2_ENST00000515273.1_Frame_Shift_Del_p.T2151fs|TACC2_ENST00000513429.1_Frame_Shift_Del_p.T293fs|TACC2_ENST00000369004.3_Frame_Shift_Del_p.T225fs|TACC2_ENST00000515603.1_Frame_Shift_Del_p.T2102fs|TACC2_ENST00000260733.3_Frame_Shift_Del_p.T225fs	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2147						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CCCACAGAGACCCCCCCAGTG	0.522													29	222	---	---	---	---						-	123970380	C	-	123970380	7	5	234	1	0	1	0	1	0	0	0	0	15559	507	18	0	6542	0	TACC2	10	123970380	Frame_Shift_Del	DEL	C	TCGA-J9-A52C-01A-11D-A26M-08	4925797	123970380	11564367	352	11098											
MKI67	4288	broad.mit.edu	37	chr10	129910063	129910063	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtactaaattgactgtgAacttcgcccacaggcttctg	9	12	8	12	1	1	2	0	2	1	0	2	2	1	2	2	1	2	2	2	1	4	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:129910063A>T	ENST00000368654.3	-	11	2481	c.2106T>A	c.(2104-2106)gtT>gtA	p.V702V	MKI67_ENST00000368653.3_Silent_p.V342V|MKI67_ENST00000484853.1_5'UTR	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	702					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				ATTGACTGTGAACTTCGCCCA	0.443													12	41					0	0	1	0	0	T	129910063	A	T	129910063	2	4	234	1	0	0	0	0	0	0	0	1	9646	233	9	5		5	MKI67	10	129910063	Silent	SNP	A	TCGA-J9-A52C-01A-11D-A26M-08	5939683	129910063	5624684	353	11099											
KNDC1	85442	broad.mit.edu	37	chr10	134981778	134981778	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgaccctgagggtgccttcGttccccccgagttcgacgtg	5	9	12	15	5	0	1	0	1	0	0	3	4	1	1	5	1	1	2	5	1	0	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr10:134981778G>A	ENST00000304613.3	+	3	343	c.322G>A	c.(322-324)Gtt>Att	p.V108I	KNDC1_ENST00000530127.1_3'UTR|KNDC1_ENST00000368571.2_Missense_Mutation_p.V43I|KNDC1_ENST00000368572.2_Missense_Mutation_p.V108I			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	108	KIND 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GGGTGCCTTCGTTCCCCCCGA	0.592													9	147					0	0	1	0	0	A	134981778	G	A	134981778	3	1	234	1	0	0	0	0	1	0	0	0	8469	1145	40	1	332	1	KNDC1	10	134981778	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	5071715	134981778	552969	354	11100											
SLC25A22	79751	broad.mit.edu	37	chr11	792315	792315	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcactgaccatcacaggggTtgacggccacagcggcggca	9	5	14	13	3	1	2	1	2	0	0	1	2	1	2	2	5	2	3	2	5	0	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:792315T>C	ENST00000320230.5	-	8	1212	c.731A>G	c.(730-732)aAc>aGc	p.N244S	SLC25A22_ENST00000531214.1_Missense_Mutation_p.N244S	NM_001191061.1|NM_024698.5	NP_001177990.1|NP_078974.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22	244						integral to membrane|mitochondrial inner membrane|nucleus	L-glutamate transmembrane transporter activity|protein binding|symporter activity			endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	L-Glutamic Acid(DB00142)	ATCACAGGGGTTGACGGCCAC	0.692													9	122					0	0	1	0	0	C	792315	T	C	792315	3	2	234	1	0	0	0	0	1	0	0	0	14540	1725	60	3	252	3	SLC25A22	11	792315	Missense_Mutation	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08		792315	134214201	355	11101											
MUC5B	727897	broad.mit.edu	37	chr11	1256378	1256378	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgggcacctgcgtggcctaCggggatggccacttcatcac	6	8	13	14	2	2	0	2	0	0	0	2	1	2	1	3	5	2	1	3	5	1	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:1256378C>T	ENST00000447027.1	+	22	2761	c.2703C>T	c.(2701-2703)taC>taT	p.Y901Y	MUC5B_ENST00000529681.1_Silent_p.Y898Y			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	898	VWFC 1.|VWFD 3.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.Y901Y(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCGTGGCCTACGGGGATGGCC	0.652													8	42					0	0	1	0	0	T	1256378	C	T	1256378	2	4	234	1	0	0	0	0	0	0	0	1	10027	547	19	1		1	MUC5B	11	1256378	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	464063	1256378	133750138	356	11102											
OR5P2	120065	broad.mit.edu	37	chr11	7818171	7818171	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcagccagaaggacgcattCgactgttgcaaagaaagccg	13	5	13	10	3	0	2	0	0	0	2	1	4	0	3	2	2	3	4	2	2	3	2	rs147652902		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:7818171C>T	ENST00000329434.2	-	1	349	c.319G>A	c.(319-321)Gaa>Aaa	p.E107K	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E107K(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGGACGCATTCGACTGTTGCA	0.493													8	87					0	0	1	0	0	T	7818171	C	T	7818171	3	4	234	1	0	0	0	0	1	0	0	0	11225	893	31	1	653	1	OR5P2	11	7818171	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	6561793	7818171	127188345	357	11103											
SWAP70	23075	broad.mit.edu	37	chr11	9746375	9746375	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggcatggaccggcagacTgtgtctatggcaattaatga	13	9	12	7	1	1	2	0	1	1	1	1	3	1	3	1	4	0	3	1	4	4	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:9746375T>G	ENST00000318950.6	+	4	688	c.585T>G	c.(583-585)acT>acG	p.T195T	SWAP70_ENST00000447399.2_Silent_p.T137T	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN	SWAP switching B-cell complex 70kDa subunit	195						cytoplasm|lamellipodium|nucleus|plasma membrane	calcium ion binding|DNA binding			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		ACCGGCAGACTGTGTCTATGG	0.333													16	52					0	0	1	0	0	G	9746375	T	G	9746375	2	3	234	1	0	0	0	0	0	0	0	1	15481	1567	55	5		5	SWAP70	11	9746375	Silent	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	1928204	9746375	125260141	358	11104											
COPB1	1315	broad.mit.edu	37	chr11	14491012	14491012	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccttgaggcacagggaaattCgatccacatcatcatcagta	13	9	8	11	1	3	1	3	1	0	0	5	3	4	2	2	2	0	2	2	2	2	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:14491012C>T	ENST00000249923.3	-	15	2135	c.1835G>A	c.(1834-1836)cGa>cAa	p.R612Q	COPB1_ENST00000439561.2_Missense_Mutation_p.R612Q	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	612					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						CAGGGAAATTCGATCCACATC	0.408													10	45					0	0	1	0	0	T	14491012	C	T	14491012	3	4	234	1	0	0	0	0	1	0	0	0	3751	884	31	1	1058	1	COPB1	11	14491012	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	4744637	14491012	120515504	359	11105											
ABCC8	6833	broad.mit.edu	37	chr11	17438497	17438497	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggggtcctctcctatctcGctgtcaggaaggctgctggg	4	11	14	12	1	3	0	1	0	2	0	6	1	4	1	2	5	1	3	2	5	2	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:17438497G>A	ENST00000302539.4	-	17	2363	c.2238C>T	c.(2236-2238)agC>agT	p.S746S	ABCC8_ENST00000389817.3_Silent_p.S745S	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	745	ABC transporter 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CTCCTATCTCGCTGTCAGGAA	0.567													3	21					0	0	1	0	0	A	17438497	G	A	17438497	2	1	234	1	0	0	0	0	0	0	0	1	58	1078	38	1		1	ABCC8	11	17438497	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	2947485	17438497	117568019	360	11106											
LDLRAD3	143458	broad.mit.edu	37	chr11	36057737	36057737	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaatggacggtgcatccCgggcgcctggcagtgtgacg	7	6	16	12	4	0	1	0	1	0	0	1	2	1	2	2	4	2	3	2	4	1	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:36057737C>T	ENST00000315571.5	+	2	152	c.131C>T	c.(130-132)cCg>cTg	p.P44L	LDLRAD3_ENST00000524419.1_Intron|LDLRAD3_ENST00000528989.1_Intron	NM_174902.2	NP_777562.1	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain containing 3	44	LDL-receptor class A 1.					integral to membrane	receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				CGGTGCATCCCGGGCGCCTGG	0.612													6	97					0	0	1	0	0	T	36057737	C	T	36057737	3	4	234	1	0	0	0	0	1	0	0	0	8746	652	23	1	137	1	LDLRAD3	11	36057737	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	18619240	36057737	98948779	361	11107											
LRP4	4038	broad.mit.edu	37	chr11	46917787	46917787	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgctgtgggctttcgtcgCtgttgtcaccacagtcgttg	3	15	12	11	3	2	0	1	0	1	0	5	0	2	0	1	1	1	5	1	1	0	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:46917787C>A	ENST00000378623.1	-	9	1264	c.1022G>T	c.(1021-1023)aGc>aTc	p.S341I		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	341	LDL-receptor class A 8.				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GCTTTCGTCGCTGTTGTCACC	0.597													17	71					3.99206e-14	4.11663e-14	1	1	0	A	46917787	C	A	46917787	3	1	234	1	0	0	0	0	1	0	0	0	9004	797	28	4	4815	4	LRP4	11	46917787	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	10860050	46917787	88088729	362	11108											
OR4A16	81327	broad.mit.edu	37	chr11	55111453	55111453	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atttttatgtatgttagaccCgtttccaactttccctttga	8	19	5	9	1	0	2	0	1	0	1	2	2	2	2	3	0	1	3	3	0	4	8	rs79231280	by1000genomes	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:55111453C>A	ENST00000314721.2	+	1	827	c.777C>A	c.(775-777)ccC>ccA	p.P259P		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						ATGTTAGACCCGTTTCCAACT	0.388													5	26					0.000602214	0.000607226	1	1	0	A	55111453	C	A	55111453	2	1	234	1	0	0	0	0	0	0	0	1	11089	639	23	4		4	OR4A16	11	55111453	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	8193666	55111453	79895063	363	11109											
OR9G1	390174	broad.mit.edu	37	chr11	56468308	56468308	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggtagcagtctcatatTgtggtggctttattaactct	7	17	10	7	0	2	0	1	0	2	0	3	0	2	0	0	3	3	4	0	3	4	6			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:56468308T>C	ENST00000312153.1	+	1	445	c.445T>C	c.(445-447)Tgt>Cgt	p.C149R		NM_001005213.1	NP_001005213.1			olfactory receptor, family 9, subfamily G, member 1											breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						AGTCTCATATTGTGGTGGCTT	0.453													9	116					0	0	1	0	0	C	56468308	T	C	56468308	3	2	234	1	0	0	0	0	1	0	0	0	11297	1812	63	3	447	3	OR9G1	11	56468308	Missense_Mutation	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	1356855	56468308	78538208	364	11110											
RTN4RL2	349667	broad.mit.edu	37	chr11	57243663	57243663	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcgcggacctggccaaccTgagccacctcttcctccacg	6	8	9	18	3	1	1	0	1	1	0	4	2	3	2	7	2	2	1	7	2	1	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:57243663T>C	ENST00000335099.3	+	3	859	c.542T>C	c.(541-543)cTg>cCg	p.L181P		NM_178570.1	NP_848665.1	Q86UN3	R4RL2_HUMAN	reticulon 4 receptor-like 2	181					axon regeneration	anchored to plasma membrane	receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(2)	6						CTGGCCAACCTGAGCCACCTC	0.667													31	115					0	0	1	0	0	C	57243663	T	C	57243663	3	2	234	1	0	0	0	0	1	0	0	0	13784	1580	55	3	552	3	RTN4RL2	11	57243663	Missense_Mutation	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	775355	57243663	77762853	365	11111											
CNTF	1270	broad.mit.edu	37	chr11	58391921	58391921	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taaggtccatccatgaccttCgtttcatttcttctcatcag	8	16	5	12	1	4	1	3	1	2	0	8	1	6	1	3	1	0	1	3	1	1	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:58391921C>T	ENST00000361987.4	+	2	609	c.529C>T	c.(529-531)Cgt>Tgt	p.R177C	ZFP91-CNTF_ENST00000389919.4_3'UTR	NM_000614.3	NP_000605.1	P26441	CNTF_HUMAN	ciliary neurotrophic factor	177					ciliary neurotrophic factor-mediated signaling pathway|growth|negative regulation of neuron apoptosis|positive regulation of tyrosine phosphorylation of Stat3 protein		ciliary neurotrophic factor receptor binding|growth factor activity|interleukin-6 receptor binding			NS(1)|breast(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)	10		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				CCATGACCTTCGTTTCATTTC	0.463													10	49					0	0	1	0	0	T	58391921	C	T	58391921	3	4	234	1	0	0	0	0	1	0	0	0	3660	884	31	1	535	1	CNTF	11	58391921	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	1148258	58391921	76614595	366	11112											
GLYATL1	92292	broad.mit.edu	37	chr11	58722740	58722740	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagcactcctcttggttacGgaagatattctgaagctcaa	12	11	9	9	1	3	3	1	1	2	2	4	4	4	4	1	2	3	3	1	2	5	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:58722740G>A	ENST00000300079.5	+	6	548	c.498G>A	c.(496-498)acG>acA	p.T166T	GLYATL1_ENST00000317391.4_Silent_p.T135T|RP11-142C4.6_ENST00000533954.1_RNA	NM_001220496.1|NM_080661.3	NP_001207425.1|NP_542392.2	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	135						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	TCTTGGTTACGGAAGATATTC	0.443													8	67					0	0	1	0	0	A	58722740	G	A	58722740	2	1	234	1	0	0	0	0	0	0	0	1	6522	1103	39	1		1	GLYATL1	11	58722740	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	330819	58722740	76283776	367	11113											
CCDC88B	283234	broad.mit.edu	37	chr11	64112271	64112271	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgagctggaagcccaggcccGcaagctggaggcccaaaaca	12	3	13	13	1	0	1	0	1	0	0	0	3	0	3	3	4	4	3	3	4	4	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:64112271G>A	ENST00000356786.5	+	14	2302	c.2258G>A	c.(2257-2259)cGc>cAc	p.R753H	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	753					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCCCAGGCCCGCAAGCTGGAG	0.682													4	18					0	0	1	0	0	A	64112271	G	A	64112271	3	1	234	1	0	0	0	0	1	0	0	0	2884	1087	38	1	2312	1	CCDC88B	11	64112271	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	5389531	64112271	70894245	368	11114											
DPF2	5977	broad.mit.edu	37	chr11	65107961	65107961	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttcttggactcacagacCggagtagcccagagcaattg	10	9	10	12	1	2	2	1	0	1	2	2	4	2	4	3	2	2	2	3	2	2	4	rs139698375		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:65107961C>T	ENST00000528416.1	+	2	271	c.138C>T	c.(136-138)acC>acT	p.T46T	DPF2_ENST00000532264.1_Intron|DPF2_ENST00000415073.2_Silent_p.T46T|DPF2_ENST00000252268.4_Silent_p.T46T	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	46					apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						ACTCACAGACCGGAGTAGCCC	0.562													17	85					0	0	1	0	0	T	65107961	C	T	65107961	2	4	234	1	0	0	0	0	0	0	0	1	4744	639	23	1		1	DPF2	11	65107961	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	995690	65107961	69898555	369	11115											
MAP3K11	4296	broad.mit.edu	37	chr11	65366866	65366866	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggcttcaggccactcaccGcggggctcctcctcacgtcg	4	7	11	19	5	3	0	3	0	0	0	6	0	5	0	5	4	0	2	5	4	0	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:65366866G>A	ENST00000309100.3	-	9	2690	c.2206_splice	c.e9+1	p.R735_splice	MAP3K11_ENST00000532507.1_Splice_Site_p.R151_splice|MAP3K11_ENST00000530153.1_Splice_Site_p.R478_splice	NM_002419.3	NP_002410.1	Q16584	M3K11_HUMAN	mitogen-activated protein kinase kinase kinase 11	735	Pro-rich.				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						GCCACTCACCGCGGGGCTCCT	0.687													3	10					0	0	1	0	0	A	65366866	G	A	65366866	5	1	234	1	0	0	0	0	0	0	1	0	9295	1101	38	1	346	1	MAP3K11	11	65366866	Splice_Site	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	258905	65366866	69639650	370	11116											
EFEMP2	30008	broad.mit.edu	37	chr11	65635813	65635813	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgcagcggttggtgtccacGcagcggtagcccccatggaa	8	6	14	13	4	0	0	0	0	0	0	1	1	1	1	3	4	3	4	3	4	2	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:65635813G>A	ENST00000307998.6	-	9	1157	c.927C>T	c.(925-927)tgC>tgT	p.C309C	EFEMP2_ENST00000528176.1_Silent_p.C309C	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	309	EGF-like 6; calcium-binding (Potential).				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		TGGTGTCCACGCAGCGGTAGC	0.602													7	30					0	0	1	0	0	A	65635813	G	A	65635813	2	1	234	1	0	0	0	0	0	0	0	1	4968	1079	38	1		1	EFEMP2	11	65635813	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	268947	65635813	69370703	371	11117											
DPP3	10072	broad.mit.edu	37	chr11	66260244	66260244	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttgagcggctggtggcgaGcgcagagcagctgctgaagg	7	7	19	8	3	0	3	0	2	0	1	0	4	0	3	0	4	5	6	0	4	1	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:66260244G>A	ENST00000532677.1	+	10	1504	c.1103G>A	c.(1102-1104)aGc>aAc	p.S368N	DPP3_ENST00000533799.1_3'UTR|DPP3_ENST00000360510.2_Missense_Mutation_p.S349N|DPP3_ENST00000541961.1_Missense_Mutation_p.S349N|DPP3_ENST00000531863.1_Missense_Mutation_p.S369N|DPP3_ENST00000530165.1_Missense_Mutation_p.S319N|DPP3_ENST00000453114.1_Missense_Mutation_p.S349N	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	349					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						CTGGTGGCGAGCGCAGAGCAG	0.597													19	98					0	0	1	0	0	A	66260244	G	A	66260244	3	1	234	1	0	0	0	0	1	0	0	0	4754	971	34	2	1080	2	DPP3	11	66260244	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	624431	66260244	68746272	372	11118											
SPTBN2	6712	broad.mit.edu	37	chr11	66468529	66468529	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgagtcagttcgcccaccCgggcggcgatggcctccagg	5	6	14	16	5	1	0	1	0	0	0	4	2	2	0	4	4	0	1	4	4	0	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:66468529C>T	ENST00000533211.1	-	17	3372	c.3041G>A	c.(3040-3042)cGg>cAg	p.R1014Q	SPTBN2_ENST00000529997.1_Missense_Mutation_p.R1014Q|SPTBN2_ENST00000309996.2_Missense_Mutation_p.R1014Q			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1014					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TTCGCCCACCCGGGCGGCGAT	0.701													9	53					0	0	1	0	0	T	66468529	C	T	66468529	3	4	234	1	0	0	0	0	1	0	0	0	15176	652	23	1	4219	1	SPTBN2	11	66468529	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	208285	66468529	68537987	373	11119											
IGHMBP2	3508	broad.mit.edu	37	chr11	68675744	68675744	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atttccagttgagcttggacCgagagaattcctacagactg	11	11	10	9	1	0	3	0	1	0	2	2	6	2	4	3	1	2	2	3	1	2	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:68675744C>T	ENST00000255078.3	+	3	499	c.388C>T	c.(388-390)Cga>Tga	p.R130*	IGHMBP2_ENST00000539224.1_Nonsense_Mutation_p.R130*	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	130					cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GAGCTTGGACCGAGAGAATTC	0.507													13	74					0	0	1	0	0	T	68675744	C	T	68675744	4	4	234	1	0	0	0	0	0	1	0	0	7635	644	23	1	398	1	IGHMBP2	11	68675744	Nonsense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	2207215	68675744	66330772	374	11120											
USP35	57558	broad.mit.edu	37	chr11	77924841	77924841	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggtggcaatggtggtgacttCcacagactggtcttctaatg	8	12	13	8	0	2	2	0	1	2	1	3	2	3	2	1	5	0	1	1	5	2	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:77924841C>G	ENST00000529308.1	+	11	3300	c.3039C>G	c.(3037-3039)ttC>ttG	p.F1013L	USP35_ENST00000526425.1_Missense_Mutation_p.F744L|USP35_ENST00000441408.2_Missense_Mutation_p.F599L|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000530267.1_Missense_Mutation_p.F581L	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	1013					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			GTGGTGACTTCCACAGACTGG	0.592													5	39					0	0	1	0	0	G	77924841	C	G	77924841	3	3	234	1	0	0	0	0	1	0	0	0	17126	854	30	4	3077	4	USP35	11	77924841	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	9249097	77924841	57081675	375	11121											
CCDC81	60494	broad.mit.edu	37	chr11	86106421	86106421	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctagcagagaggccttgAggaagtggcccagcagtgtg	9	8	16	8	0	1	2	0	1	1	1	1	4	1	3	2	3	2	2	2	3	2	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:86106421A>C	ENST00000445632.2	+	5	873	c.601A>C	c.(601-603)Agg>Cgg	p.R201R	CCDC81_ENST00000354755.1_Silent_p.R111R|CCDC81_ENST00000528728.1_5'UTR|CCDC81_ENST00000278487.3_5'UTR	NM_001156474.1	NP_001149946.1	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	201										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				AGAGGCCTTGAGGAAGTGGCC	0.547													7	40					0	0	1	0	0	C	86106421	A	C	86106421	2	2	234	1	0	0	0	0	0	0	0	1	2875	295	11	5		5	CCDC81	11	86106421	Silent	SNP	A	TCGA-J9-A52C-01A-11D-A26M-08	8181580	86106421	48900095	376	11122											
CWF19L2	143884	broad.mit.edu	37	chr11	107309880	107309880	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcccaccatccttccagtaCggattcaattctctttccat	8	14	4	15	1	2	0	1	0	1	0	7	1	6	1	5	1	1	1	5	1	2	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:107309880C>T	ENST00000282251.5	-	6	627	c.600G>A	c.(598-600)ccG>ccA	p.P200P	CWF19L2_ENST00000433523.1_Silent_p.P200P	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	200							catalytic activity			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		CCTTCCAGTACGGATTCAATT	0.318													6	12					0	0	1	0	0	T	107309880	C	T	107309880	2	4	234	1	0	0	0	0	0	0	0	1	4095	523	19	1		1	CWF19L2	11	107309880	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	21203459	107309880	27696636	377	11123											
SIK3	23387	broad.mit.edu	37	chr11	116718256	116718256	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgactgagaactgcatcCgacatccgggcagagctaag	12	6	12	11	2	0	3	0	2	0	2	2	6	2	3	2	1	3	3	2	1	2	1	rs139869704	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:116718256C>T	ENST00000375300.1	-	22	3749	c.3744G>A	c.(3742-3744)tcG>tcA	p.S1248S	AP006216.12_ENST00000444200.1_RNA|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000434315.2_Silent_p.S1029S|SIK3_ENST00000542607.1_Silent_p.S1130S|SIK3_ENST00000375288.1_Silent_p.S525S|SIK3_ENST00000292055.4_Silent_p.S1190S|SIK3_ENST00000446921.2_Silent_p.S1188S			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	1190						cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.S1296S(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						GAACTGCATCCGACATCCGGG	0.512													26	110					0	0	1	0	0	T	116718256	C	T	116718256	2	4	234	1	0	0	0	0	0	0	0	1	14374	639	23	1		1	SIK3	11	116718256	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	9408376	116718256	18288260	378	11124											
DSCAML1	57453	broad.mit.edu	37	chr11	117374650	117374650	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgatgtcctcttctaggaCgtggcggatcagcagcgagc	7	8	14	12	4	3	0	1	0	2	0	4	4	4	2	2	3	3	1	2	3	1	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:117374650C>T	ENST00000321322.6	-	11	2450	c.2449G>A	c.(2449-2451)Gtc>Atc	p.V817I	DSCAML1_ENST00000527706.1_Missense_Mutation_p.V547I	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	757	Ig-like C2-type 9.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TCTTCTAGGACGTGGCGGATC	0.617													11	50					0	0	1	0	0	T	117374650	C	T	117374650	3	4	234	1	0	0	0	0	1	0	0	0	4795	536	19	1	3984	1	DSCAML1	11	117374650	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	656394	117374650	17631866	379	11125											
C2CD2L	9854	broad.mit.edu	37	chr11	118986872	118986872	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacggccacgcccagtgtccGaaagaaggccggcagctttt	10	6	12	13	4	0	1	0	0	0	1	1	2	1	1	4	3	2	2	4	3	3	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:118986872G>A	ENST00000336702.3	+	14	2389	c.2030G>A	c.(2029-2031)cGa>cAa	p.R677Q	C2CD2L_ENST00000528586.1_3'UTR	NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN	C2CD2-like	676						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						CCCAGTGTCCGAAAGAAGGCC	0.592													14	40					0	0	1	0	0	A	118986872	G	A	118986872	3	1	234	1	0	0	0	0	1	0	0	0	2167	1058	37	1	2084	1	C2CD2L	11	118986872	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1612222	118986872	16019644	380	11126											
GRIK4	2900	broad.mit.edu	37	chr11	120744898	120744898	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggcccagatctggcagcacGgcaccagcctcatgaactac	10	5	10	16	2	2	2	1	1	1	1	2	2	2	2	3	3	4	3	3	3	2	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:120744898G>A	ENST00000527524.2	+	10	1317	c.1030G>A	c.(1030-1032)Ggc>Agc	p.G344S	RP11-640N11.2_ENST00000505153.2_RNA|GRIK4_ENST00000438375.2_Missense_Mutation_p.G344S			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	344					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	CTGGCAGCACGGCACCAGCCT	0.622													8	19					0	0	1	0	0	A	120744898	G	A	120744898	3	1	234	1	0	0	0	0	1	0	0	0	6817	1116	39	1	1060	1	GRIK4	11	120744898	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1758026	120744898	14261618	381	11127											
OR10G7	390265	broad.mit.edu	37	chr11	123909636	123909636	+	Frame_Shift_Del	DEL	G	G	-																															caccaggaagattccaaagaGgggggcgtccagccctgggg																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:123909636delG	ENST00000330487.5	-	1	81	c.73delC	c.(73-75)tcfs	p.L25fs		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		ATTCCAAAGAGGGGGGCGTCC	0.567													12	80	---	---	---	---						-	123909636	G	-	123909636	7	5	234	1	0	1	0	1	0	0	0	0	10950	1000	35	0	866	0	OR10G7	11	123909636	Frame_Shift_Del	DEL	G	TCGA-J9-A52C-01A-11D-A26M-08	3164738	123909636	11096880	382	11128											
APLP2	334	broad.mit.edu	37	chr11	130010333	130010333	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgggggactgatcggtgcCgaagagaaagtgattaacag	13	7	16	5	2	0	3	0	2	0	1	1	7	0	4	1	3	2	0	1	3	3	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:130010333C>T	ENST00000263574.5	+	15	1986	c.1914C>T	c.(1912-1914)gcC>gcT	p.A638A	APLP2_ENST00000345598.5_Silent_p.A397A|APLP2_ENST00000338167.5_Silent_p.A626A|APLP2_ENST00000543137.1_Silent_p.A533A|APLP2_ENST00000539648.1_Silent_p.A426A|APLP2_ENST00000278756.7_Silent_p.A636A|APLP2_ENST00000528499.1_Silent_p.A570A	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	638					G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		TGATCGGTGCCGAAGAGAAAG	0.488													8	49					0	0	1	0	0	T	130010333	C	T	130010333	2	4	234	1	0	0	0	0	0	0	0	1	776	639	23	1		1	APLP2	11	130010333	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	6100697	130010333	4996183	383	11129											
ST14	6768	broad.mit.edu	37	chr11	130059742	130059742	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgtagtcatgctgcccccGcgggcgcgctccctgaagtc	4	7	13	17	6	1	1	1	1	0	0	3	1	2	1	3	1	2	3	3	1	2	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr11:130059742G>A	ENST00000278742.5	+	5	967	c.549G>A	c.(547-549)ccG>ccA	p.P183P		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	183					proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	TGCTGCCCCCGCGGGCGCGCT	0.667													19	82					0	0	1	0	0	A	130059742	G	A	130059742	2	1	234	1	0	0	0	0	0	0	0	1	15267	1074	38	1		1	ST14	11	130059742	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	49409	130059742	4946774	384	11130											
FOXM1	2305	broad.mit.edu	37	chr12	2968088	2968088	+	Frame_Shift_Del	DEL	G	G	-																															gagcctttgcggtgattcaaGggggggagcactttgcaagg																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:2968088delG	ENST00000342628.2	-	10	2235	c.2122delC	c.(2122-2124)ttfs	p.L708fs	FOXM1_ENST00000359843.3_Frame_Shift_Del_p.L670fs|ITFG2_ENST00000545509.1_Intron|FOXM1_ENST00000361953.3_Frame_Shift_Del_p.L655fs	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	forkhead box M1	670					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			GGTGATTCAAGGGGGGGAGCA	0.577													13	52	---	---	---	---						-	2968088	G	-	2968088	7	5	234	1	0	1	0	1	0	0	0	0	6052	1000	35	0	287	0	FOXM1	12	2968088	Frame_Shift_Del	DEL	G	TCGA-J9-A52C-01A-11D-A26M-08		2968088	130883807	385	11131											
FGF23	8074	broad.mit.edu	37	chr12	4479895	4479895	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggagagtggtagacgtcgtAcccgttttccagcgtctggt	7	11	14	9	4	1	2	0	0	1	2	3	3	2	2	2	3	2	3	2	3	2	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:4479895A>G	ENST00000237837.1	-	3	515	c.370T>C	c.(370-372)Tac>Cac	p.Y124H		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	124					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			TAGACGTCGTACCCGTTTTCC	0.597													20	110					0	0	1	0	0	G	4479895	A	G	4479895	3	3	234	1	0	0	0	0	1	0	0	0	5885	391	14	3	389	3	FGF23	12	4479895	Missense_Mutation	SNP	A	TCGA-J9-A52C-01A-11D-A26M-08	1511807	4479895	129372000	386	11132											
VWF	7450	broad.mit.edu	37	chr12	6125268	6125268	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcttactgttggacctggcGgcatcagctgctgcatccac	6	12	10	13	1	2	0	1	0	1	0	3	1	3	1	2	3	4	5	2	3	1	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:6125268G>A	ENST00000261405.5	-	31	5696	c.5442C>T	c.(5440-5442)gcC>gcT	p.A1814A		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	1814	VWFA 3; main binding site for collagens type I and III.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	p.A1814A(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TGGACCTGGCGGCATCAGCTG	0.522													11	27					0	0	1	0	0	A	6125268	G	A	6125268	2	1	234	1	0	0	0	0	0	0	0	1	17306	1103	39	1		1	VWF	12	6125268	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1645373	6125268	127726627	387	11133											
VWF	7450	broad.mit.edu	37	chr12	6161823	6161823	+	Frame_Shift_Del	DEL	G	G	-																															tctcatccatgtagagccctGgggggcagaagcagccctcc																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:6161823delG	ENST00000261405.5	-	16	2326	c.2072delC	c.(2071-2073)cafs	p.P691fs		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	691	TIL 2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GTAGAGCCCTGGGGGGCAGAA	0.607													8	72	---	---	---	---						-	6161823	G	-	6161823	7	5	234	1	0	1	0	1	0	0	0	0	17306	1348	47	0	6517	0	VWF	12	6161823	Frame_Shift_Del	DEL	G	TCGA-J9-A52C-01A-11D-A26M-08	36555	6161823	127690072	388	11134											
TNFRSF1A	7132	broad.mit.edu	37	chr12	6438670	6438670	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctcgcgcaggcagcgcccGttctgcagctccagccgatc	5	6	12	18	5	1	0	0	0	1	0	4	1	2	0	4	1	4	5	4	1	0	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:6438670G>A	ENST00000162749.2	-	10	1475	c.1176C>T	c.(1174-1176)aaC>aaT	p.N392N	TNFRSF1A_ENST00000540022.1_Silent_p.N349N	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN	tumor necrosis factor receptor superfamily, member 1A	392	Death.				apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						GGCAGCGCCCGTTCTGCAGCT	0.701													5	16					0	0	1	0	0	A	6438670	G	A	6438670	2	1	234	1	0	0	0	0	0	0	0	1	16353	1136	40	1		1	TNFRSF1A	12	6438670	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	276847	6438670	127413225	389	11135											
VAMP1	0	broad.mit.edu	37	chr12	6579696	6579697	+	Splice_Site	INS	-	-	T																															cacaccagagtcaactcacaINStttttctgacagagagagtg																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:6579696_6579697insT	ENST00000361716.3	-	1	456_457	c.2_splice	c.e1+1	p.V1_splice	VAMP1_ENST00000400911.3_Splice_Site_p.V1_splice|VAMP1_ENST00000544432.1_5'UTR|VAMP1_ENST00000396308.3_Splice_Site_p.V1_splice|VAMP1_ENST00000535180.1_Splice_Site_p.V1_splice			P23763	VAMP1_HUMAN	vesicle-associated membrane protein 1 (synaptobrevin 1)	1					neurotransmitter secretion|vesicle-mediated transport	cell junction|endocytic vesicle membrane|integral to plasma membrane|mitochondrial outer membrane|synaptic vesicle membrane|synaptosome	protein binding			endometrium(1)|large_intestine(1)|prostate(1)	3					Botulinum Toxin Type B(DB00042)	GTCAACTCACATTTTTCTGACA	0.609													7	42	---	---	---	---						T	6579697	-	T	6579696	8	5	234	1	0	1	1	0	0	0	1	0	17172	231	8	0	403	0	VAMP1	12	6579696	Splice_Site	INS	-	TCGA-J9-A52C-01A-11D-A26M-08	141026	6579696	127272199	390	11136											
PLCZ1	89869	broad.mit.edu	37	chr12	18889199	18889199	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ataactgcaccgaatatctaAtttttcaagtaacctctgag	14	13	5	9	1	3	1	1	1	2	0	3	2	3	1	2	0	3	2	2	0	6	6			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:18889199A>T	ENST00000447925.2	-	3	354	c.85T>A	c.(85-87)Tta>Ata	p.L29I	PLCZ1_ENST00000539875.1_Missense_Mutation_p.L31I|PLCZ1_ENST00000435379.1_Missense_Mutation_p.L29I|PLCZ1_ENST00000266505.7_Missense_Mutation_p.L31I|RP11-361I14.2_ENST00000536931.1_RNA	NM_033123.2	NP_149114.2	Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	31					intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					CGAATATCTAATTTTTCAAGT	0.353													6	29					0	0	1	0	0	T	18889199	A	T	18889199	3	4	234	1	0	0	0	0	1	0	0	0	12092	98	4	5	1787	5	PLCZ1	12	18889199	Missense_Mutation	SNP	A	TCGA-J9-A52C-01A-11D-A26M-08	12309503	18889199	114962696	391	11137											
H3F3C	440093	broad.mit.edu	37	chr12	31944698	31944699	+	Frame_Shift_Del	DEL	CT	CT	-																															aaaaactgccttcacttaagCtctctctccccgtatccggc																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:31944698_31944699delCT	ENST00000340398.3	-	1	476_477	c.402_403delAG	c.(400-405)agctfs	p.RA134fs		NM_001013699.2	NP_001013721.2	Q6NXT2	H3C_HUMAN	H3 histone, family 3C	134					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						TTCACTTAAGCTCTCTCTCCCC	0.406										HNSCC(67;0.2)			12	68	---	---	---	---						-	31944699	CT	-	31944698	7	5	234	1	0	1	0	1	0	0	0	0	6976	797	28	0	8	0	H3F3C	12	31944698	Frame_Shift_Del	DEL	CT	TCGA-J9-A52C-01A-11D-A26M-08	13055499	31944698	101907197	392	11138											
BICD1	636	broad.mit.edu	37	chr12	32458878	32458878	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	actcaaatttgccgaggatgGgagtgaaccaaacaatgatg	15	8	11	7	1	1	2	1	2	0	0	1	5	1	4	2	2	3	0	2	2	4	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:32458878G>T	ENST00000548411.1	+	4	1008	c.827G>T	c.(826-828)gGg>gTg	p.G276V	BICD1_ENST00000281474.5_Missense_Mutation_p.G276V	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	276					anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			GCCGAGGATGGGAGTGAACCA	0.458													7	31					1.76689e-08	1.80665e-08	1	1	0	T	32458878	G	T	32458878	3	4	234	1	0	0	0	0	1	0	0	0	1427	1232	43	4	841	4	BICD1	12	32458878	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	514180	32458878	101393017	393	11139											
SLC2A13	114134	broad.mit.edu	37	chr12	40223918	40223918	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gatatacctgccccaggctgCctcatttgtagatgctttat	8	14	8	11	0	1	1	1	0	0	1	1	2	1	1	4	1	4	3	4	1	4	6			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:40223918C>T	ENST00000280871.4	-	7	1482	c.1432G>A	c.(1432-1434)Gca>Aca	p.A478T		NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	478						integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				CCCCAGGCTGCCTCATTTGTA	0.378										HNSCC(50;0.14)			5	22					0	0	1	0	0	T	40223918	C	T	40223918	3	4	234	1	0	0	0	0	1	0	0	0	14597	739	26	2	530	2	SLC2A13	12	40223918	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	7765040	40223918	93627977	394	11140											
LRRK2	120892	broad.mit.edu	37	chr12	40653340	40653340	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaatactaacagttatgaaaCgtcatgagacatcattacca	18	10	5	8	1	2	2	2	2	0	1	2	3	2	2	1	0	4	1	1	0	6	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:40653340C>T	ENST00000298910.7	+	13	1535	c.1477C>T	c.(1477-1479)Cgt>Tgt	p.R493C	LRRK2_ENST00000343742.2_Missense_Mutation_p.R493C	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	493					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AGTTATGAAACGTCATGAGAC	0.413													5	49					0	0	1	0	0	T	40653340	C	T	40653340	3	4	234	1	0	0	0	0	1	0	0	0	9078	536	19	1	1527	1	LRRK2	12	40653340	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	429422	40653340	93198555	395	11141											
DDN	23109	broad.mit.edu	37	chr12	49391305	49391305	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtggcgtcaatgacaaagaCgccttccccacgggacaggc	10	5	12	14	4	1	2	1	1	0	1	2	3	2	3	3	3	0	0	3	3	2	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:49391305C>T	ENST00000421952.2	-	2	1375	c.1354G>A	c.(1354-1356)Gtc>Atc	p.V452I		NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	452	Interaction with CD2AP and NPHS1 (By similarity).					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						ATGACAAAGACGCCTTCCCCA	0.642													16	94					0	0	1	0	0	T	49391305	C	T	49391305	3	4	234	1	0	0	0	0	1	0	0	0	4356	536	19	1	785	1	DDN	12	49391305	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	8737965	49391305	84460590	396	11142											
TUBA1A	7846	broad.mit.edu	37	chr12	49579134	49579134	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atccacaaactggatggtacGcttggtcttgatggtggcaa	10	11	12	8	1	1	1	0	1	1	0	2	2	2	2	1	5	2	3	1	5	3	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:49579134G>A	ENST00000301071.7	-	4	1359	c.1015C>T	c.(1015-1017)Cgt>Tgt	p.R339C	TUBA1A_ENST00000295766.5_Missense_Mutation_p.R339C|TUBA1A_ENST00000550767.1_Missense_Mutation_p.R304C	NM_001270400.1|NM_006009.3	NP_001257329.1|NP_006000.2	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a	339					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|structural molecule activity			stomach(1)|upper_aerodigestive_tract(1)	2						TGGATGGTACGCTTGGTCTTG	0.547													11	74					0	0	1	0	0	A	49579134	G	A	49579134	3	1	234	1	0	0	0	0	1	0	0	0	16805	1087	38	1	344	1	TUBA1A	12	49579134	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	187829	49579134	84272761	397	11143											
DIP2B	57609	broad.mit.edu	37	chr12	51064979	51064979	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttccacacagacacatcttcGgcctctgaggatgagggctc	9	9	10	13	1	2	3	0	2	2	1	5	4	3	4	2	3	0	1	2	3	0	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:51064979G>A	ENST00000301180.5	+	5	472	c.438G>A	c.(436-438)tcG>tcA	p.S146S		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	146	Ser-rich.					nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						ACACATCTTCGGCCTCTGAGG	0.468													5	51					0	0	1	0	0	A	51064979	G	A	51064979	2	1	234	1	0	0	0	0	0	0	0	1	4556	1103	39	1		1	DIP2B	12	51064979	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1485845	51064979	82786916	398	11144											
KRT80	144501	broad.mit.edu	37	chr12	52567427	52567427	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctccaggctgcgagccGcgacggcgtcatactgggcc	5	6	13	17	5	1	0	1	0	0	0	3	2	3	0	5	3	3	1	5	3	1	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:52567427G>A	ENST00000313234.5	-	5	885	c.788C>T	c.(787-789)gCg>gTg	p.A263V	KRT80_ENST00000394815.2_Missense_Mutation_p.A263V	NM_001081492.1	NP_001074961.1	Q6KB66	K2C80_HUMAN	keratin 80	263	Coil 2.|Rod.					keratin filament	structural molecule activity			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		GCTGCGAGCCGCGACGGCGTC	0.657													19	89					0	0	1	0	0	A	52567427	G	A	52567427	3	1	234	1	0	0	0	0	1	0	0	0	8537	1087	38	1	625	1	KRT80	12	52567427	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1502448	52567427	81284468	399	11145											
KRT80	144501	broad.mit.edu	37	chr12	52574746	52574746	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttggagatctcatcctcatAcctgggagggagagaggggt	9	9	15	8	0	2	2	2	0	1	2	4	6	3	4	2	5	1	0	2	5	1	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:52574746A>G	ENST00000313234.5	-	3	608	c.509_splice	c.e3-1	p.Y171_splice	KRT80_ENST00000394815.2_Splice_Site_p.Y171_splice	NM_001081492.1	NP_001074961.1	Q6KB66	K2C80_HUMAN	keratin 80	171	Coil 1B.|Rod.					keratin filament	structural molecule activity			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		TCATCCTCATACCTGGGAGGG	0.602													9	33					0	0	1	0	0	G	52574746	A	G	52574746	5	3	234	1	0	0	0	0	0	0	1	0	8537	405	14	3	910	3	KRT80	12	52574746	Splice_Site	SNP	A	TCGA-J9-A52C-01A-11D-A26M-08	7319	52574746	81277149	400	11146											
KRT77	374454	broad.mit.edu	37	chr12	53086233	53086233	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcgccctccagcagctggcGgtaggtggcgatctccacat	6	8	12	15	3	1	0	0	0	1	0	4	1	2	0	3	4	2	3	3	4	1	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:53086233G>A	ENST00000341809.3	-	7	1427	c.1399C>T	c.(1399-1401)Cgc>Tgc	p.R467C	KRT77_ENST00000537195.1_Missense_Mutation_p.R234C	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN	keratin 77	467	Coil 2.|Rod.					keratin filament	structural molecule activity	p.R467S(1)		NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						AGCAGCTGGCGGTAGGTGGCG	0.632													13	63					0	0	1	0	0	A	53086233	G	A	53086233	3	1	234	1	0	0	0	0	1	0	0	0	8533	1116	39	1	349	1	KRT77	12	53086233	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	511487	53086233	80765662	401	11147											
ESPL1	9700	broad.mit.edu	37	chr12	53663786	53663786	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaacgaggcaccaagaggCgctatagacttgatgccatt	12	8	12	9	2	0	3	0	1	0	2	0	5	0	4	2	3	2	2	2	3	4	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:53663786C>T	ENST00000257934.4	+	3	1151	c.1060C>T	c.(1060-1062)Cgc>Tgc	p.R354C	ESPL1_ENST00000552462.1_Missense_Mutation_p.R354C	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	354					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CACCAAGAGGCGCTATAGACT	0.537													8	39					0	0	1	0	0	T	53663786	C	T	53663786	3	4	234	1	0	0	0	0	1	0	0	0	5281	768	27	1	1066	1	ESPL1	12	53663786	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	577553	53663786	80188109	402	11148											
WIBG	84305	broad.mit.edu	37	chr12	56297223	56297223	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcaccctccgctgcttgcGccaggtcccgtcaggtcgct	3	11	10	17	4	2	0	2	0	0	0	5	0	4	0	4	2	2	3	4	2	0	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:56297223G>A	ENST00000408946.2	-	2	230	c.79C>T	c.(79-81)Cgc>Tgc	p.R27C	WIBG_ENST00000557259.1_Silent_p.G39G|WIBG_ENST00000302533.6_5'UTR|WIBG_ENST00000547925.1_Silent_p.G40G|WIBG_ENST00000398213.4_Missense_Mutation_p.R26C	NM_032345.2	NP_115721.1	Q9BRP8	WIBG_HUMAN	within bgcn homolog (Drosophila)	27	Required for interaction with MAGOH and RBM8A.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|exon-exon junction complex|nucleolus|nucleoplasm	protein binding|ribosome binding|RNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						CGCTGCTTGCGCCAGGTCCCG	0.468													9	55					0	0	1	0	0	A	56297223	G	A	56297223	3	1	234	1	0	0	0	0	1	0	0	0	17425	1087	38	1	543	1	WIBG	12	56297223	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	2633437	56297223	77554672	403	11149											
ERBB3	2065	broad.mit.edu	37	chr12	56487295	56487295	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcgggggcctacggaagagCgactagacatcaagcataat	13	7	12	9	3	1	2	1	0	0	2	2	4	1	3	1	3	3	1	1	3	5	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:56487295C>T	ENST00000267101.3	+	12	1881	c.1441C>T	c.(1441-1443)Cga>Tga	p.R481*	ERBB3_ENST00000415288.2_Nonsense_Mutation_p.R422*|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	481					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TACGGAAGAGCGACTAGACAT	0.547													9	63					0	0	1	0	0	T	56487295	C	T	56487295	4	4	234	1	0	0	0	0	0	1	0	0	5236	760	27	1	1618	1	ERBB3	12	56487295	Nonsense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	190072	56487295	77364600	404	11150											
SMARCC2	6601	broad.mit.edu	37	chr12	56575853	56575853	+	Missense_Mutation	SNP	A	A	G																															aatttcactcgctgggatccAcgtgtcgtaactgccatggg																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:56575853A>G	ENST00000394023.3	-	8	748	c.643T>C	c.(643-645)Tgg>Cgg	p.W215R	SMARCC2_ENST00000347471.4_Missense_Mutation_p.W215R|SMARCC2_ENST00000267064.4_Missense_Mutation_p.W215R|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550859.1_5'UTR|SMARCC2_ENST00000550164.1_Missense_Mutation_p.W215R	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	215					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GCTGGGATCCACGTGTCGTAA	0.443													7	31					0	0	1	0	0	G	56575853	A	G	56575853	3	3	234	1	0	0	0	0	1	0	0	0	14830	159	6	3	3182	3	SMARCC2	12	56575853	Missense_Mutation	SNP	A	TCGA-J9-A52C-01A-11D-A26M-08	88558	56575853	77276042	405	11151	57	2									
SMARCC2	6601	broad.mit.edu	37	chr12	56575860	56575860	+	Silent	SNP	G	G	A																															ctcgctgggatccacgtgtcGtaactgccatgggaaattga																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:56575860G>A	ENST00000394023.3	-	8	741	c.636C>T	c.(634-636)taC>taT	p.Y212Y	SMARCC2_ENST00000347471.4_Silent_p.Y212Y|SMARCC2_ENST00000267064.4_Silent_p.Y212Y|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550859.1_5'UTR|SMARCC2_ENST00000550164.1_Silent_p.Y212Y	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	212					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TCCACGTGTCGTAACTGCCAT	0.438													5	30					0	0	1	0	0	A	56575860	G	A	56575860	2	1	234	1	0	0	0	0	0	0	0	1	14830	1140	40	1		1	SMARCC2	12	56575860	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	7	56575860	77276035	406	11152	57	2									
PAN2	9924	broad.mit.edu	37	chr12	56713245	56713245	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtcaccaggctttataccCgagtattgagtcaagtaatc	12	11	9	9	1	2	1	2	1	0	0	3	2	2	1	2	2	1	3	2	2	5	6			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:56713245C>T	ENST00000425394.2	-	23	3505	c.3129G>A	c.(3127-3129)tcG>tcA	p.S1043S	PAN2_ENST00000549090.1_5'UTR|PAN2_ENST00000257931.5_Silent_p.S1042S|PAN2_ENST00000440411.3_Silent_p.S1039S|PAN2_ENST00000548043.1_Silent_p.S1043S	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	1043	Exonuclease.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity	p.S1039S(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						GCTTTATACCCGAGTATTGAG	0.443													10	64					0	0	1	0	0	T	56713245	C	T	56713245	2	4	234	1	0	0	0	0	0	0	0	1	11461	639	23	1		1	PAN2	12	56713245	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	137385	56713245	77138650	407	11153											
LRP1	4035	broad.mit.edu	37	chr12	57588369	57588369	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgccccccaggtgtgaaacGccccagatgccctctgaatt	8	8	9	16	2	1	3	0	2	1	1	2	3	1	3	6	1	2	0	6	1	2	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:57588369G>A	ENST00000243077.3	+	50	8544	c.8078G>A	c.(8077-8079)cGc>cAc	p.R2693H		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2693					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GGTGTGAAACGCCCCAGATGC	0.647													13	76					0	0	1	0	0	A	57588369	G	A	57588369	3	1	234	1	0	0	0	0	1	0	0	0	8996	1087	38	1	8276	1	LRP1	12	57588369	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	875124	57588369	76263526	408	11154											
B4GALNT1	2583	broad.mit.edu	37	chr12	58022502	58022502	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgctagctgcacaccttgccGaagggcatgagatagtgttc	9	10	12	10	1	0	1	0	1	0	1	1	3	0	1	2	1	4	5	2	1	3	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:58022502G>A	ENST00000341156.4	-	8	1580	c.996C>T	c.(994-996)ttC>ttT	p.F332F	B4GALNT1_ENST00000449184.3_Silent_p.F299F|B4GALNT1_ENST00000418555.2_Silent_p.F277F	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	332					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			ACACCTTGCCGAAGGGCATGA	0.617													7	44					0	0	1	0	0	A	58022502	G	A	58022502	2	1	234	1	0	0	0	0	0	0	0	1	1264	1049	37	1		1	B4GALNT1	12	58022502	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	434133	58022502	75829393	409	11155											
B4GALNT1	2583	broad.mit.edu	37	chr12	58022927	58022927	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtccctcggtggagaaccGgactgggaagaaaggacatg	12	6	15	8	2	0	2	0	0	0	2	2	6	1	5	2	5	1	0	2	5	3	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:58022927G>A	ENST00000341156.4	-	7	1299	c.715C>T	c.(715-717)Cgg>Tgg	p.R239W	B4GALNT1_ENST00000449184.3_Intron|B4GALNT1_ENST00000418555.2_Missense_Mutation_p.R184W	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	239					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	p.R239W(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GTGGAGAACCGGACTGGGAAG	0.532													5	18					0	0	1	0	0	A	58022927	G	A	58022927	3	1	234	1	0	0	0	0	1	0	0	0	1264	1115	39	1	906	1	B4GALNT1	12	58022927	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	425	58022927	75828968	410	11156											
LRRC10	376132	broad.mit.edu	37	chr12	70004150	70004150	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagctggcctggcagcaaacGcagggcgttggagccggcat	8	5	17	11	3	0	0	0	0	0	0	0	2	0	1	2	5	4	6	2	5	1	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:70004150G>A	ENST00000361484.3	-	1	792	c.469C>T	c.(469-471)Cgt>Tgt	p.R157C		NM_201550.2	NP_963844.2	Q5BKY1	LRC10_HUMAN	leucine rich repeat containing 10	157						nucleus				large_intestine(2)|lung(6)	8	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GGCAGCAAACGCAGGGCGTTG	0.627													8	42					0	0	1	0	0	A	70004150	G	A	70004150	3	1	234	1	0	0	0	0	1	0	0	0	9012	1087	38	1	368	1	LRRC10	12	70004150	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	11981223	70004150	63847745	411	11157											
BEST3	144453	broad.mit.edu	37	chr12	70070800	70070800	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgggatccaaaaactggcGtccaatcaggcacgcaaaga	14	5	12	10	2	1	1	1	0	0	1	3	2	3	2	2	4	1	2	2	4	4	0	rs149210955	by1000genomes	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:70070800G>A	ENST00000330891.5	-	7	989	c.763C>T	c.(763-765)Cgc>Tgc	p.R255C	BEST3_ENST00000488961.1_Intron|BEST3_ENST00000331471.4_Missense_Mutation_p.R255C|BEST3_ENST00000476098.1_Intron|BEST3_ENST00000553096.1_Missense_Mutation_p.R149C	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	255						chloride channel complex|plasma membrane	chloride channel activity	p.R255C(1)		cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			AAAAACTGGCGTCCAATCAGG	0.517													9	51					0	0	1	0	0	A	70070800	G	A	70070800	3	1	234	1	0	0	0	0	1	0	0	0	1404	1145	40	1	1259	1	BEST3	12	70070800	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	66650	70070800	63781095	412	11158											
C12orf63	0	broad.mit.edu	37	chr12	97078469	97078469	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaagtcttaaagttcaggcGttgcattcacttggaagtct	11	13	10	7	1	4	1	2	0	2	1	4	2	4	2	0	2	1	3	0	2	4	5	rs149195544		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:97078469G>A	ENST00000524981.3	+	8	1113	c.1113G>A	c.(1111-1113)gcG>gcA	p.A371A				Q6ZTY8	CL063_HUMAN		345								p.A345A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						AAGTTCAGGCGTTGCATTCAC	0.323													10	46					0	0	1	0	0	A	97078469	G	A	97078469	2	1	234	1	0	0	0	0	0	0	0	1	1712	1132	40	1		1	C12orf63	12	97078469	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	27007669	97078469	36773426	413	11159											
STAB2	55576	broad.mit.edu	37	chr12	104142908	104142908	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttaacggagggtgtcacgagCacgccacctgtaagatgaca	12	7	12	10	3	1	2	1	1	0	1	1	4	1	3	2	2	2	2	2	2	2	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:104142908C>T	ENST00000388887.2	+	59	6616	c.6412C>T	c.(6412-6414)Cac>Tac	p.H2138Y	RP11-341G23.4_ENST00000551299.1_RNA	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	2138	EGF-like 17.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GTGTCACGAGCACGCCACCTG	0.607													8	38					0	0	1	0	0	T	104142908	C	T	104142908	3	4	234	1	0	0	0	0	1	0	0	0	15294	710	25	2	6646	2	STAB2	12	104142908	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	7064439	104142908	29708987	414	11160											
BTBD11	121551	broad.mit.edu	37	chr12	107937778	107937778	+	Frame_Shift_Del	DEL	C	C	-																															caagcaccacggcaatggcaCccccctgcaccacaagcagg																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:107937778delC	ENST00000280758.5	+	3	1880	c.1352delC	c.(1351-1353)acfs	p.T451fs	BTBD11_ENST00000420571.2_Frame_Shift_Del_p.T451fs|BTBD11_ENST00000490090.2_Frame_Shift_Del_p.T451fs	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	451						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GGCAATGGCACCCCCCTGCAC	0.582													11	38	---	---	---	---						-	107937778	C	-	107937778	7	5	234	1	0	1	0	1	0	0	0	0	1541	507	18	0	1362	0	BTBD11	12	107937778	Frame_Shift_Del	DEL	C	TCGA-J9-A52C-01A-11D-A26M-08	3794870	107937778	25914117	415	11161											
ACACB	32	broad.mit.edu	37	chr12	109693958	109693958	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacagctctgaagggaacGtggcagagcggattctttga	10	9	13	9	2	2	3	0	2	2	1	3	5	3	5	1	3	3	2	1	3	2	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:109693958G>A	ENST00000338432.7	+	45	6299	c.6180G>A	c.(6178-6180)acG>acA	p.T2060T	ACACB_ENST00000377848.3_Silent_p.T2060T|ACACB_ENST00000377854.5_Silent_p.T1990T|ACACB_ENST00000543201.1_Silent_p.T726T			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	2060	Carboxyltransferase.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TGAAGGGAACGTGGCAGAGCG	0.602													7	55					0	0	1	0	0	A	109693958	G	A	109693958	2	1	234	1	0	0	0	0	0	0	0	1	107	1132	40	1		1	ACACB	12	109693958	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1756180	109693958	24157937	416	11162											
KSR2	283455	broad.mit.edu	37	chr12	118198839	118198839	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgtgtgggcctcgtccacGcggtgccccagctggaactc	4	7	15	15	4	0	0	0	0	0	0	3	1	1	1	4	4	3	1	4	4	1	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:118198839G>A	ENST00000425217.1	-	4	930	c.876C>T	c.(874-876)cgC>cgT	p.R292R	KSR2_ENST00000339824.5_Silent_p.R321R	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	321	Pro-rich.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCTCGTCCACGCGGTGCCCCA	0.677													14	63					0	0	1	0	0	A	118198839	G	A	118198839	2	1	234	1	0	0	0	0	0	0	0	1	8621	1074	38	1		1	KSR2	12	118198839	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	8504881	118198839	15653056	417	11163											
GCN1L1	10985	broad.mit.edu	37	chr12	120587427	120587427	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taccagctttggtccgccacGattcctcctccagggcagcc	6	9	9	17	2	0	0	0	0	0	0	4	1	4	0	7	2	3	2	7	2	1	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:120587427G>A	ENST00000300648.6	-	36	4541	c.4529C>T	c.(4528-4530)tCg>tTg	p.S1510L		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1510					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGTCCGCCACGATTCCTCCTC	0.577													16	62					0	0	1	0	0	A	120587427	G	A	120587427	3	1	234	1	0	0	0	0	1	0	0	0	6339	1059	37	1	3578	1	GCN1L1	12	120587427	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	2388588	120587427	13264468	418	11164											
ANAPC5	51433	broad.mit.edu	37	chr12	121747516	121747516	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcctaccttctgctttctTcggctgatcgtaggaagctg	5	15	9	12	2	2	1	0	1	2	0	5	2	3	2	2	2	3	4	2	2	3	6			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:121747516T>G	ENST00000261819.3	-	16	2165	c.2044A>C	c.(2044-2046)Aag>Cag	p.K682Q	ANAPC5_ENST00000344395.4_Missense_Mutation_p.K570Q|ANAPC5_ENST00000535482.1_Missense_Mutation_p.K348Q|ANAPC5_ENST00000541887.1_Missense_Mutation_p.K669Q|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000441917.2_Missense_Mutation_p.K570Q	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	682					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCTGCTTTCTTCGGCTGATCG	0.483													12	32					0	0	1	0	0	G	121747516	T	G	121747516	3	3	234	1	0	0	0	0	1	0	0	0	601	1792	62	5	231	5	ANAPC5	12	121747516	Missense_Mutation	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	1160089	121747516	12104379	419	11165											
CCDC92	80212	broad.mit.edu	37	chr12	124422214	124422216	+	In_Frame_Del	DEL	CTT	CTT	-																															gccttcagctcctccaggtaCttcttctctcgctccttgat																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:124422214_124422216delCTT	ENST00000545135.1	-	3	3630_3632	c.334_336delAAG	c.(334-336)del	p.K112del	CCDC92_ENST00000238156.3_In_Frame_Del_p.K129del|CCDC92_ENST00000545891.1_In_Frame_Del_p.K112del|CCDC92_ENST00000544798.1_Intron			Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	129										large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		CCTCCAGGTACTTCTTCTCTCGC	0.537													40	174	---	---	---	---						-	124422216	CTT	-	124422214	7	5	234	1	0	1	0	1	0	0	0	0	2891	564	20	0	612	0	CCDC92	12	124422214	In_Frame_Del	DEL	CTT	TCGA-J9-A52C-01A-11D-A26M-08	2674698	124422214	9429681	420	11166											
CCDC92	80212	broad.mit.edu	37	chr12	124422261	124422261	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagcactgtgatcatcgCgtttttctgctccagttctt	5	16	7	13	2	3	1	1	1	2	0	6	1	5	1	2	0	2	4	2	0	0	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:124422261C>T	ENST00000545135.1	-	3	3585	c.289G>A	c.(289-291)Gcg>Acg	p.A97T	CCDC92_ENST00000238156.3_Missense_Mutation_p.A114T|CCDC92_ENST00000544798.1_Intron|CCDC92_ENST00000545891.1_Missense_Mutation_p.A97T			Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	114										large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		GTGATCATCGCGTTTTTCTGC	0.468													22	145					0	0	1	0	0	T	124422261	C	T	124422261	3	4	234	1	0	0	0	0	1	0	0	0	2891	768	27	1	659	1	CCDC92	12	124422261	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	47	124422261	9429634	421	11167											
FAM101A	144347	broad.mit.edu	37	chr12	124798868	124798868	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcacgtggcgcaactacCgcagccagctgaccctggag	9	5	12	15	3	0	1	0	1	0	0	0	2	0	2	3	2	5	4	3	2	2	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr12:124798868C>A	ENST00000324038.3	+	3	448	c.205C>A	c.(205-207)Cgc>Agc	p.R69S	FAM101A_ENST00000338359.4_Missense_Mutation_p.R69S|FAM101A_ENST00000546355.1_Missense_Mutation_p.R69S|FAM101A_ENST00000389727.3_Missense_Mutation_p.R150S	NM_181709.4	NP_859060.3	Q6ZTI6	F101A_HUMAN	family with sequence similarity 101, member A	150										endometrium(1)|kidney(1)|lung(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059)		GCGCAACTACCGCAGCCAGCT	0.642													15	110					3.52763e-06	3.56688e-06	1	1	0	A	124798868	C	A	124798868	3	1	234	1	0	0	0	0	1	0	0	0	5411	652	23	4	211	4	FAM101A	12	124798868	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	376607	124798868	9053027	422	11168											
SACS	26278	broad.mit.edu	37	chr13	23909565	23909565	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atctattacaaattagccacGtagtaagatttccttcagag	14	13	6	8	1	2	2	1	0	1	2	3	2	3	2	2	0	2	2	2	0	6	7			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr13:23909565G>A	ENST00000382298.3	-	10	9038	c.8450C>T	c.(8449-8451)aCg>aTg	p.T2817M	SACS_ENST00000402364.1_Missense_Mutation_p.T2067M|SACS_ENST00000382292.3_Missense_Mutation_p.T2817M	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	2817					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AATTAGCCACGTAGTAAGATT	0.358													5	39					0	0	1	0	0	A	23909565	G	A	23909565	3	1	234	1	0	0	0	0	1	0	0	0	13856	1145	40	1	5293	1	SACS	13	23909565	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08		23909565	91260313	423	11169											
SACS	26278	broad.mit.edu	37	chr13	23913031	23913033	+	In_Frame_Del	DEL	TAC	TAC	-																															atctgctgtattgtagcacgTactactaacttcactcactt																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr13:23913031_23913033delTAC	ENST00000382298.3	-	10	5570_5572	c.4982_4984delGTA	c.(4981-4986)acg>a	p.ST1661del	SACS_ENST00000382292.3_In_Frame_Del_p.ST1661del|SACS_ENST00000402364.1_In_Frame_Del_p.ST911del	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	1661					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TTGTAGCACGTACTACTAACTTC	0.384													8	44	---	---	---	---						-	23913033	TAC	-	23913031	7	5	234	1	0	1	0	1	0	0	0	0	13856	1638	57	0	8759	0	SACS	13	23913031	In_Frame_Del	DEL	TAC	TCGA-J9-A52C-01A-11D-A26M-08	3466	23913031	91256847	424	11170											
PCDH9	5101	broad.mit.edu	37	chr13	67801068	67801068	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagctgataaacaatgtctGcatttttcccactgtcttca	11	14	5	11	0	3	1	1	1	2	0	4	1	4	1	1	0	3	2	1	0	4	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr13:67801068G>A	ENST00000544246.1	-	2	2196	c.1505C>T	c.(1504-1506)gCa>gTa	p.A502V	PCDH9_ENST00000328454.5_Missense_Mutation_p.A502V|PCDH9_ENST00000377861.3_Missense_Mutation_p.A502V|PCDH9_ENST00000456367.1_Missense_Mutation_p.A502V|PCDH9_ENST00000377865.2_Missense_Mutation_p.A502V	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	502	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		AACAATGTCTGCATTTTTCCC	0.423													10	59					0	0	1	0	0	A	67801068	G	A	67801068	3	1	234	1	0	0	0	0	1	0	0	0	11565	1319	46	2	2224	2	PCDH9	13	67801068	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	43888037	67801068	47368810	425	11171											
KLF5	688	broad.mit.edu	37	chr13	73636372	73636372	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tattttcatcaaacaagaacTtcctacaccagatcttcatc	14	13	2	12	0	4	2	3	0	1	2	6	2	5	2	2	0	3	0	2	0	5	6			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr13:73636372T>C	ENST00000377687.4	+	2	1171	c.635T>C	c.(634-636)cTt>cCt	p.L212P	KLF5_ENST00000539231.1_Missense_Mutation_p.L121P|KLF5_ENST00000477333.1_3'UTR	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	212					transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		AAACAAGAACTTCCTACACCA	0.512													8	43					0	0	1	0	0	C	73636372	T	C	73636372	3	2	234	1	0	0	0	0	1	0	0	0	8392	1609	56	3	641	3	KLF5	13	73636372	Missense_Mutation	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	5835304	73636372	41533506	426	11172											
DCT	1638	broad.mit.edu	37	chr13	95121166	95121166	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcgcgagatctaaggcGcccaagaactgctctctttc	8	12	8	13	3	3	2	0	0	3	2	6	3	3	2	1	1	2	1	1	1	3	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr13:95121166G>A	ENST00000377028.5	-	2	842	c.429C>T	c.(427-429)ggC>ggT	p.G143G	DCT_ENST00000446125.1_Silent_p.G143G	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	143					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		GATCTAAGGCGCCCAAGAACT	0.562													34	143					0	0	1	0	0	A	95121166	G	A	95121166	2	1	234	1	0	0	0	0	0	0	0	1	4327	1074	38	1		1	DCT	13	95121166	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	21484794	95121166	20048712	427	11173											
UGGT2	55757	broad.mit.edu	37	chr13	96543151	96543151	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cattttctgtgcttctcttgTtaatggatcaacaatagcaa	11	16	6	8	0	3	0	1	0	2	0	4	1	3	1	0	1	3	3	0	1	5	6			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr13:96543151T>C	ENST00000376747.3	-	25	2993	c.2923A>G	c.(2923-2925)Aca>Gca	p.T975A		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	975					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						GCTTCTCTTGTTAATGGATCA	0.279													3	19					0	0	1	0	0	C	96543151	T	C	96543151	3	2	234	1	0	0	0	0	1	0	0	0	17002	1725	60	3	1687	3	UGGT2	13	96543151	Missense_Mutation	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	1421985	96543151	18626727	428	11174											
TPP2	7174	broad.mit.edu	37	chr13	103297267	103297267	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatcctttgtagcatgcatcGgaaggaatcaaccgctttga	12	11	9	9	2	1	1	1	1	0	0	3	3	2	3	2	2	3	4	2	2	5	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr13:103297267G>A	ENST00000376052.3	+	19	2317	c.2301G>A	c.(2299-2301)tcG>tcA	p.S767S	TPP2_ENST00000376065.4_Silent_p.S767S			P29144	TPP2_HUMAN	tripeptidyl peptidase II	767					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity	p.S767S(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGCATGCATCGGAAGGAATCA	0.353													5	34					0	0	1	0	0	A	103297267	G	A	103297267	2	1	234	1	0	0	0	0	0	0	0	1	16473	1103	39	1		1	TPP2	13	103297267	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	6754116	103297267	11872611	429	11175											
ERCC5	2073	broad.mit.edu	37	chr13	103504506	103504506	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accaagcacttaaaggagtcCgggatcgccatgggaactca	13	6	11	11	2	1	0	1	0	0	0	3	3	2	3	3	3	2	1	3	3	4	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr13:103504506C>T	ENST00000355739.4	+	2	1550	c.127C>T	c.(127-129)Cgg>Tgg	p.R43W	ERCC5_ENST00000535557.1_Missense_Mutation_p.R43W|BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.P468L	NM_000123.3	NP_000114.2			excision repair cross-complementing rodent repair deficiency, complementation group 5											breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TAAAGGAGTCCGGGATCGCCA	0.378			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				11	26					0	0	1	0	0	T	103504506	C	T	103504506	3	4	234	1	0	0	0	0	1	0	0	0	5244	643	23	1	133	1	ERCC5	13	103504506	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	207239	103504506	11665372	430	11176											
OR4N2	390429	broad.mit.edu	37	chr14	20295816	20295816	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcaacttggccttcctggAtgcatcctactccttcattg	6	13	9	13	0	1	0	1	0	0	0	4	1	4	1	4	3	3	2	4	3	2	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:20295816A>G	ENST00000568211.1	+	1	209	c.209A>G	c.(208-210)gAt>gGt	p.D70G	OR4N2_ENST00000315947.1_Missense_Mutation_p.D70G			Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCCTTCCTGGATGCATCCTAC	0.488													28	145					0	0	1	0	0	G	20295816	A	G	20295816	3	3	234	1	0	0	0	0	1	0	0	0	11125	333	12	3	211	3	OR4N2	14	20295816	Missense_Mutation	SNP	A	TCGA-J9-A52C-01A-11D-A26M-08		20295816	87053724	431	11177											
MYH6	4624	broad.mit.edu	37	chr14	23868103	23868103	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggatcagggagaagtgggcTtcctgcttccccttgatgtt	6	13	13	9	0	1	2	1	1	0	1	3	4	3	3	3	3	1	3	3	3	1	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:23868103T>G	ENST00000405093.3	-	15	1795	c.1725A>C	c.(1723-1725)gaA>gaC	p.E575D	MYH6_ENST00000356287.3_Missense_Mutation_p.E575D	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	575	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		AGAAGTGGGCTTCCTGCTTCC	0.547													10	40					0	0	1	0	0	G	23868103	T	G	23868103	3	3	234	1	0	0	0	0	1	0	0	0	10086	1606	56	5	4194	5	MYH6	14	23868103	Missense_Mutation	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	3572287	23868103	83481437	432	11178											
AP1G2	8906	broad.mit.edu	37	chr14	24031220	24031220	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcatactccacagcccgctGctgcagctccacgtccaagc	8	7	8	18	2	1	0	1	0	0	0	4	0	4	0	4	0	6	4	4	0	2	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:24031220G>A	ENST00000308724.5	-	16	2439	c.1684C>T	c.(1684-1686)Cag>Tag	p.Q562*	RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000397120.3_Nonsense_Mutation_p.Q562*	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	562					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		ACAGCCCGCTGCTGCAGCTCC	0.602											OREG0022605	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	20					0	0	1	0	0	A	24031220	G	A	24031220	4	1	234	1	0	0	0	0	0	1	0	0	729	1328	46	2	697	2	AP1G2	14	24031220	Nonsense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	163117	24031220	83318320	433	11179											
CPNE6	9362	broad.mit.edu	37	chr14	24545427	24545427	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgcactgcctcagtcccCgacagcccaaccactacctg	8	6	6	21	1	1	0	1	0	0	0	2	1	2	0	7	0	5	1	7	0	2	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:24545427C>T	ENST00000397016.2	+	12	1305	c.994C>T	c.(994-996)Cga>Tga	p.R332*	CPNE6_ENST00000216775.2_Nonsense_Mutation_p.R332*|CPNE6_ENST00000537691.1_Nonsense_Mutation_p.R387*			O95741	CPNE6_HUMAN	copine VI (neuronal)	332	VWFA.				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		CCTCAGTCCCCGACAGCCCAA	0.647													11	32					0	0	1	0	0	T	24545427	C	T	24545427	4	4	234	1	0	0	0	0	0	1	0	0	3839	644	23	1	1032	1	CPNE6	14	24545427	Nonsense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	514207	24545427	82804113	434	11180											
NYNRIN	57523	broad.mit.edu	37	chr14	24877090	24877090	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggaatacctgaagggcCtgtgcagcccagagctgtgg	9	6	14	12	0	0	2	0	1	0	1	0	3	0	3	4	3	4	2	4	3	3	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:24877090C>A	ENST00000382554.3	+	3	532	c.214C>A	c.(214-216)Ctg>Atg	p.L72M		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	72					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CCTGAAGGGCCTGTGCAGCCC	0.627													16	81					2.35188e-11	2.42184e-11	1	1	0	A	24877090	C	A	24877090	3	1	234	1	0	0	0	0	1	0	0	0	10844	680	24	4	220	4	NYNRIN	14	24877090	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	331663	24877090	82472450	435	11181											
TRAPPC6B	122553	broad.mit.edu	37	chr14	39623467	39623467	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacatctgagtaagcaggCgaaatttgttgtcctgaagt	12	11	11	7	1	1	3	0	2	1	1	2	4	2	3	1	1	1	3	1	1	3	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:39623467C>T	ENST00000330149.5	-	4	525	c.299G>A	c.(298-300)cGc>cAc	p.R100H	TRAPPC6B_ENST00000557764.1_5'UTR|TRAPPC6B_ENST00000347691.5_Intron	NM_001079537.1	NP_001073005.1	Q86SZ2	TPC6B_HUMAN	trafficking protein particle complex 6B	100					vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus	guanylate cyclase activity|heme binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0128)		AGTAAGCAGGCGAAATTTGTT	0.333													4	11					0	0	1	0	0	T	39623467	C	T	39623467	3	4	234	1	0	0	0	0	1	0	0	0	16525	768	27	1	189	1	TRAPPC6B	14	39623467	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	14746377	39623467	67726073	436	11182											
NID2	22795	broad.mit.edu	37	chr14	52481974	52481974	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctccagcgctcacagatggtCgggggcctctgggtgggctc	4	8	16	13	2	2	1	1	0	1	1	5	1	3	1	2	5	1	2	2	5	0	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:52481974C>T	ENST00000216286.5	-	15	3047	c.3048G>A	c.(3046-3048)ccG>ccA	p.P1016P	NID2_ENST00000541773.1_Silent_p.P915P	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	1016	Thyroglobulin type-1 2.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CACAGATGGTCGGGGGCCTCT	0.577													9	47					0	0	1	0	0	T	52481974	C	T	52481974	2	4	234	1	0	0	0	0	0	0	0	1	10462	871	31	1		1	NID2	14	52481974	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	12858507	52481974	54867566	437	11183											
FBXO34	55030	broad.mit.edu	37	chr14	55818654	55818654	+	Frame_Shift_Del	DEL	G	G	-																															gccagcttgaagatgctgctGggggtgacagtgcatctgag																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:55818654delG	ENST00000313833.4	+	2	1791	c.1546delG	c.(1546-1548)ggfs	p.G517fs	FBXO34_ENST00000440021.1_Frame_Shift_Del_p.G517fs	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	517										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						AGATGCTGCTGGGGGTGACAG	0.488													32	138	---	---	---	---						-	55818654	G	-	55818654	7	5	234	1	0	1	0	1	0	0	0	0	5777	1348	47	0	1548	0	FBXO34	14	55818654	Frame_Shift_Del	DEL	G	TCGA-J9-A52C-01A-11D-A26M-08	3336680	55818654	51530886	438	11184											
PRKCH	5583	broad.mit.edu	37	chr14	61924008	61924008	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgacaactttgagttcatcCgagtgttggggaaggggagt	9	11	15	6	2	1	1	1	1	0	0	3	5	2	3	1	4	1	2	1	4	2	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:61924008C>T	ENST00000332981.5	+	8	1460	c.1075C>T	c.(1075-1077)Cga>Tga	p.R359*	PRKCH_ENST00000555082.1_Nonsense_Mutation_p.R198*	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	359	Protein kinase.		R -> Q (in dbSNP:rs55818778).		intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		TGAGTTCATCCGAGTGTTGGG	0.488													13	65					0	0	1	0	0	T	61924008	C	T	61924008	4	4	234	1	0	0	0	0	0	1	0	0	12565	644	23	1	1105	1	PRKCH	14	61924008	Nonsense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	6105354	61924008	45425532	439	11185											
HIF1A	3091	broad.mit.edu	37	chr14	62200950	62200950	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actcaagcaactgtcatataTaacaccaagaattctcaacc	17	9	3	12	0	3	1	3	0	1	1	4	1	3	1	2	0	4	1	2	0	8	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:62200950T>C	ENST00000394997.1	+	8	1243	c.978T>C	c.(976-978)taT>taC	p.Y326Y	HIF1A_ENST00000539097.1_Silent_p.Y349Y|RP11-618G20.1_ENST00000555937.1_RNA|HIF1A_ENST00000323441.6_Silent_p.Y325Y|HIF1A_ENST00000557538.1_Silent_p.Y266Y|HIF1A-AS2_ENST00000554254.1_lincRNA|HIF1A_ENST00000337138.4_Silent_p.Y325Y			Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	325	Interaction with TSGA10 (By similarity).|PAC.				cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)		CTGTCATATATAACACCAAGA	0.383													8	31					0	0	1	0	0	C	62200950	T	C	62200950	2	2	234	1	0	0	0	0	0	0	0	1	7144	1413	49	3		3	HIF1A	14	62200950	Silent	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	276942	62200950	45148590	440	11186											
SPTB	6710	broad.mit.edu	37	chr14	65237622	65237622	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctgggcctctcctgggtctCgatctgccggatgatgctct	3	12	12	14	2	4	1	0	1	4	0	6	3	4	2	4	3	2	1	4	3	0	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:65237622C>T	ENST00000389722.3	-	26	5832	c.5779G>A	c.(5779-5781)Gag>Aag	p.E1927K	SPTB_ENST00000389720.3_Missense_Mutation_p.E1927K|SPTB_ENST00000389721.5_Missense_Mutation_p.E1927K|SPTB_ENST00000556626.1_Missense_Mutation_p.E1927K|SPTB_ENST00000542895.1_Missense_Mutation_p.E1927K	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1927					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TCCTGGGTCTCGATCTGCCGG	0.647													9	56					0	0	1	0	0	T	65237622	C	T	65237622	3	4	234	1	0	0	0	0	1	0	0	0	15174	893	31	1	1316	1	SPTB	14	65237622	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	3036672	65237622	42111918	441	11187											
SPTB	6710	broad.mit.edu	37	chr14	65260131	65260131	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttcaggtcatccgcatcGccctggaactggaaaaagtt	10	9	10	12	2	2	0	2	0	0	0	4	2	3	2	3	3	1	2	3	3	3	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:65260131G>A	ENST00000389722.3	-	13	2303	c.2250C>T	c.(2248-2250)ggC>ggT	p.G750G	SPTB_ENST00000389720.3_Silent_p.G750G|SPTB_ENST00000389721.5_Silent_p.G750G|SPTB_ENST00000556626.1_Silent_p.G750G|SPTB_ENST00000542895.1_Silent_p.G750G	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	750					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CATCCGCATCGCCCTGGAACT	0.602													5	28					0	0	1	0	0	A	65260131	G	A	65260131	2	1	234	1	0	0	0	0	0	0	0	1	15174	1074	38	1		1	SPTB	14	65260131	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	22509	65260131	42089409	442	11188											
ZFYVE26	23503	broad.mit.edu	37	chr14	68232984	68232984	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggctctggccggctttgaCgaacatcatcttggcgctga	6	12	12	11	3	3	2	1	2	2	0	3	3	3	2	1	4	1	3	1	4	1	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:68232984C>T	ENST00000347230.4	-	32	6109	c.5971G>A	c.(5971-5973)Gtc>Atc	p.V1991I	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.V1991I	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1991					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CCGGCTTTGACGAACATCATC	0.547													22	69					0	0	1	0	0	T	68232984	C	T	68232984	3	4	234	1	0	0	0	0	1	0	0	0	17726	536	19	1	1692	1	ZFYVE26	14	68232984	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	2972853	68232984	39116556	443	11189											
SMOC1	64093	broad.mit.edu	37	chr14	70420167	70420167	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcaagtgtcgcctggagcGggctcaagccctggagcaag	9	5	16	11	2	1	0	1	0	0	0	2	3	1	2	2	3	4	3	2	3	3	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:70420167G>A	ENST00000381280.4	+	3	549	c.296G>A	c.(295-297)cGg>cAg	p.R99Q	SMOC1_ENST00000361956.3_Missense_Mutation_p.R99Q	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	99	Thyroglobulin type-1 1.				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		CGCCTGGAGCGGGCTCAAGCC	0.562													30	99					0	0	1	0	0	A	70420167	G	A	70420167	3	1	234	1	0	0	0	0	1	0	0	0	14855	1116	39	1	306	1	SMOC1	14	70420167	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	2187183	70420167	36929373	444	11190											
SLC8A3	6547	broad.mit.edu	37	chr14	70634985	70634985	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgacaccctccttgcagtccGatgaccctgaacaggactca	10	8	8	15	1	1	3	1	3	0	0	3	5	3	4	4	1	2	1	4	1	1	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:70634985G>A	ENST00000381269.2	-	2	908	c.155C>T	c.(154-156)tCg>tTg	p.S52L	SLC8A3_ENST00000357887.3_Missense_Mutation_p.S52L|SLC8A3_ENST00000534137.1_Missense_Mutation_p.S52L|SLC8A3_ENST00000528359.1_Missense_Mutation_p.S52L|SLC8A3_ENST00000356921.2_Missense_Mutation_p.S52L	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	52					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CTTGCAGTCCGATGACCCTGA	0.547													6	34					0	0	1	0	0	A	70634985	G	A	70634985	3	1	234	1	0	0	0	0	1	0	0	0	14763	1059	37	1	2767	1	SLC8A3	14	70634985	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	214818	70634985	36714555	445	11191											
MAP3K9	4293	broad.mit.edu	37	chr14	71216681	71216681	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggcaaaaggttctgggcaCgtagaaggaataggaagggc	13	7	16	5	1	1	1	0	0	1	1	1	3	1	3	0	6	0	4	0	6	7	4	rs138594750	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:71216681C>T	ENST00000554752.2	-	4	1118	c.1119G>A	c.(1117-1119)acG>acA	p.T373T	MAP3K9_ENST00000381250.4_Silent_p.T373T|MAP3K9_ENST00000555993.2_Silent_p.T373T|MAP3K9_ENST00000554146.1_Silent_p.T110T|MAP3K9_ENST00000553414.1_Silent_p.T67T			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	373	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GTTCTGGGCACGTAGAAGGAA	0.517													11	50					0	0	1	0	0	T	71216681	C	T	71216681	2	4	234	1	0	0	0	0	0	0	0	1	9307	523	19	1		1	MAP3K9	14	71216681	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	581696	71216681	36132859	446	11192											
TTLL5	23093	broad.mit.edu	37	chr14	76241900	76241900	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaggatggtattacccagtcGacgattggcacttctggaac	10	10	12	9	2	1	0	0	0	1	0	2	5	1	2	1	4	2	2	1	4	3	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:76241900G>A	ENST00000298832.9	+	22	2415	c.2210G>A	c.(2209-2211)cGa>cAa	p.R737Q	TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000556893.1_Missense_Mutation_p.R288Q|TTLL5_ENST00000557636.1_Missense_Mutation_p.R751Q|TTLL5_ENST00000554510.1_Missense_Mutation_p.R246Q	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	737					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		TTACCCAGTCGACGATTGGCA	0.448													14	66					0	0	1	0	0	A	76241900	G	A	76241900	3	1	234	1	0	0	0	0	1	0	0	0	16792	1058	37	1	2292	1	TTLL5	14	76241900	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	5025219	76241900	31107640	447	11193											
TMED8	283578	broad.mit.edu	37	chr14	77808302	77808303	+	Frame_Shift_Del	DEL	CT	CT	-																															ccgcaaggagctcctggagcCtctctccacatctccagctg																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:77808302_77808303delCT	ENST00000216468.7	-	6	844_845	c.789_790delAG	c.(787-792)aggcfs	p.RG263fs		NM_213601.1	NP_998766.1	Q6PL24	TMED8_HUMAN	transmembrane emp24 protein transport domain containing 8	263	GOLD.				transport	integral to membrane		p.G264fs*30(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		CTCCTGGAGCCTCTCTCCACAT	0.609													8	27	---	---	---	---						-	77808303	CT	-	77808302	7	5	234	1	0	1	0	1	0	0	0	0	16071	681	24	0	190	0	TMED8	14	77808302	Frame_Shift_Del	DEL	CT	TCGA-J9-A52C-01A-11D-A26M-08	1566402	77808302	29541238	448	11194											
FLRT2	23768	broad.mit.edu	37	chr14	86089434	86089434	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaacaacggcagcaacacaGcgtccagccatgagcagacg	14	3	11	13	3	0	3	0	2	0	1	1	3	1	3	2	1	7	3	2	1	3	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:86089434G>A	ENST00000330753.4	+	2	2343	c.1576G>A	c.(1576-1578)Gcg>Acg	p.A526T	FLRT2_ENST00000554746.1_Missense_Mutation_p.A526T	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	526					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CAGCAACACAGCGTCCAGCCA	0.572													19	124					0	0	1	0	0	A	86089434	G	A	86089434	3	1	234	1	0	0	0	0	1	0	0	0	5972	971	34	2	1578	2	FLRT2	14	86089434	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	8281132	86089434	21260106	449	11195											
BTBD7	55727	broad.mit.edu	37	chr14	93708993	93708993	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccgtcaggggaaagtggatAttctctcctagcttcttcct	7	13	9	12	1	3	0	1	0	2	0	6	2	5	2	3	3	1	1	3	3	3	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:93708993A>G	ENST00000334746.5	-	11	3332	c.3025T>C	c.(3025-3027)Tat>Cat	p.Y1009H	BTBD7_ENST00000393170.2_Missense_Mutation_p.Y583H|BTBD7_ENST00000554565.1_Missense_Mutation_p.Y658H	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	1009										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		GAAAGTGGATATTCTCTCCTA	0.498													19	92					0	0	1	0	0	G	93708993	A	G	93708993	3	3	234	1	0	0	0	0	1	0	0	0	1549	449	16	3	377	3	BTBD7	14	93708993	Missense_Mutation	SNP	A	TCGA-J9-A52C-01A-11D-A26M-08	7619559	93708993	13640547	450	11196											
SERPINA4	5267	broad.mit.edu	37	chr14	95034589	95034589	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaagtgggctgacttatcCggcatcaccaaacagcaaaa	14	7	8	12	1	1	1	1	1	0	0	3	1	3	1	3	2	2	3	3	2	5	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:95034589C>T	ENST00000557004.1	+	4	1468	c.1047C>T	c.(1045-1047)tcC>tcT	p.S349S	SERPINA4_ENST00000555095.1_Silent_p.S349S|SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000298841.5_Silent_p.S349S			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	349					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		CTGACTTATCCGGCATCACCA	0.507													4	31					0	0	1	0	0	T	95034589	C	T	95034589	2	4	234	1	0	0	0	0	0	0	0	1	14145	639	23	1		1	SERPINA4	14	95034589	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	1325596	95034589	12314951	451	11197											
HHIPL1	84439	broad.mit.edu	37	chr14	100123403	100123403	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctgcttttcggggatgaCgggtacctctacatcttcac	7	12	10	12	2	3	1	1	1	2	0	4	2	3	2	1	3	4	3	1	3	2	5	rs140994822		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:100123403C>T	ENST00000330710.5	+	3	1067	c.969C>T	c.(967-969)gaC>gaT	p.D323D	HHIPL1_ENST00000357223.2_Silent_p.D323D	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	323					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				TCGGGGATGACGGGTACCTCT	0.512													56	315					0	0	1	0	0	T	100123403	C	T	100123403	2	4	234	1	0	0	0	0	0	0	0	1	7134	535	19	1		1	HHIPL1	14	100123403	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	5088814	100123403	7226137	452	11198											
ASPG	374569	broad.mit.edu	37	chr14	104571684	104571684	+	Frame_Shift_Del	DEL	G	G	-																															gctgctgaccaaggaccttcGgggggagatgacgccaccct																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:104571684delG	ENST00000551177.1	+	10	1162	c.1070delG	c.(1069-1071)cgfs	p.R357fs	ASPG_ENST00000549809.1_3'UTR|ASPG_ENST00000546892.2_Frame_Shift_Del_p.R357fs|ASPG_ENST00000455920.2_Frame_Shift_Del_p.R357fs	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase homolog (S. cerevisiae)	357					lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity	p.E387fs*2(1)|p.E359fs*2(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						AAGGACCTTCGGGGGGAGATG	0.682													13	56	---	---	---	---						-	104571684	G	-	104571684	7	5	234	1	0	1	0	1	0	0	0	0	1051	1116	39	0	1108	0	ASPG	14	104571684	Frame_Shift_Del	DEL	G	TCGA-J9-A52C-01A-11D-A26M-08	4448281	104571684	2777856	453	11199											
NUDT14	256281	broad.mit.edu	37	chr14	105639420	105639420	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagacaccaaagatgacgcCgagggtcttggggatgtccg	10	7	15	9	3	1	3	0	2	1	2	2	6	2	4	3	3	0	0	3	3	1	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr14:105639420C>T	ENST00000392568.2	-	5	700	c.607G>A	c.(607-609)Ggc>Agc	p.G203S	RP11-44N21.4_ENST00000548203.1_RNA|NUDT14_ENST00000550912.1_5'UTR	NM_177533.4	NP_803877.2	O95848	NUD14_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 14	203	Nudix hydrolase.					cytoplasm	metal ion binding|protein binding|UDP-sugar diphosphatase activity			cervix(2)|endometrium(1)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	14		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		AAGATGACGCCGAGGGTCTTG	0.627										HNSCC(42;0.11)			5	54					0	0	1	0	0	T	105639420	C	T	105639420	3	4	234	1	0	0	0	0	1	0	0	0	10778	652	23	1	65	1	NUDT14	14	105639420	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	1067736	105639420	1710120	454	11200											
OR4N4	283694	broad.mit.edu	37	chr15	22382965	22382965	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggtggtcctcatcctcCgcttgcctttttgtggccca	3	14	9	15	1	1	0	1	0	0	0	5	0	5	0	6	3	1	1	6	3	0	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:22382965C>T	ENST00000328795.4	+	1	584	c.493C>T	c.(493-495)Cgc>Tgc	p.R165C	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R165S(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CCTCATCCTCCGCTTGCCTTT	0.517													15	66					0	0	1	0	0	T	22382965	C	T	22382965	3	4	234	1	0	0	0	0	1	0	0	0	11126	652	23	1	495	1	OR4N4	15	22382965	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08		22382965	80148427	455	11201											
RYR3	6263	broad.mit.edu	37	chr15	34150103	34150103	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcccgatatgaagtgcgaCgacatgatgacggtgagagc	12	6	15	8	4	0	4	0	4	0	1	0	9	0	4	1	1	3	0	1	1	2	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:34150103C>T	ENST00000389232.4	+	99	14200	c.14130C>T	c.(14128-14130)gaC>gaT	p.D4710D	RYR3_ENST00000415757.3_Silent_p.D4705D	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4710					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGAAGTGCGACGACATGATGA	0.597													6	32					0	0	1	0	0	T	34150103	C	T	34150103	2	4	234	1	0	0	0	0	0	0	0	1	13822	535	19	1		1	RYR3	15	34150103	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	11767138	34150103	68381289	456	11202											
PGBD4	161779	broad.mit.edu	37	chr15	34396266	34396266	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcgaggtcgtccttgctccGatgatgtcacacctcttcgt	5	14	9	13	4	2	1	1	1	1	0	7	3	4	1	3	1	1	1	3	1	0	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:34396266G>A	ENST00000397766.2	+	1	1993	c.1534G>A	c.(1534-1536)Gat>Aat	p.D512N		NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	512										breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		TCCTTGCTCCGATGATGTCAC	0.488													4	29					0	0	1	0	0	A	34396266	G	A	34396266	3	1	234	1	0	0	0	0	1	0	0	0	11831	1058	37	1	1536	1	PGBD4	15	34396266	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	246163	34396266	68135126	457	11203											
RPAP1	26015	broad.mit.edu	37	chr15	41813295	41813295	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaccctgctgcttcctaacGacagctggtcagagaagtcg	9	8	12	12	2	1	1	1	0	0	1	3	4	2	2	2	2	4	3	2	2	2	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:41813295G>A	ENST00000304330.4	-	22	3205	c.3089C>T	c.(3088-3090)tCg>tTg	p.S1030L	RPAP1_ENST00000561603.1_Intron	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	1030	Leu-rich.					nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GCTTCCTAACGACAGCTGGTC	0.587													11	67					0	0	1	0	0	A	41813295	G	A	41813295	3	1	234	1	0	0	0	0	1	0	0	0	13593	1059	37	1	1108	1	RPAP1	15	41813295	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	7417029	41813295	60718097	458	11204											
JMJD7-PLA2G4B	0	broad.mit.edu	37	chr15	42132808	42132808	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcacggtcaagaacagcagtAgccctgtctggaaccagagc	12	5	12	12	1	2	2	1	0	1	2	2	3	2	3	2	2	5	3	2	2	4	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:42132808A>G	ENST00000382448.4	+	8	871	c.862A>G	c.(862-864)Agc>Ggc	p.S288G	JMJD7-PLA2G4B_ENST00000458483.1_Missense_Mutation_p.S57G|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.S288G|PLA2G4B_ENST00000452633.1_Missense_Mutation_p.S57G	NM_005090.3	NP_005081.1	P0C869	PA24B_HUMAN		57	PLA2c.				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						GAACAGCAGTAGCCCTGTCTG	0.617													20	56					0	0	1	0	0	G	42132808	A	G	42132808	3	3	234	1	0	0	0	0	1	0	0	0	7999	420	15	3	892	3	JMJD7-PLA2G4B	15	42132808	Missense_Mutation	SNP	A	TCGA-J9-A52C-01A-11D-A26M-08	319513	42132808	60398584	459	11205											
TP53BP1	7158	broad.mit.edu	37	chr15	43708462	43708462	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttgtaagaggtgttactgCttcataggggccaagcccat	9	12	11	9	0	1	1	1	0	0	1	1	1	1	1	2	3	3	3	2	3	4	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:43708462C>T	ENST00000263801.3	-	22	5071	c.4819G>A	c.(4819-4821)Gca>Aca	p.A1607T	TP53BP1_ENST00000450115.2_Missense_Mutation_p.A1612T|TP53BP1_ENST00000382044.4_Missense_Mutation_p.A1612T|TP53BP1_ENST00000382039.3_Missense_Mutation_p.A1562T	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1607					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GGTGTTACTGCTTCATAGGGG	0.478								Other conserved DNA damage response genes					10	57					0	0	1	0	0	T	43708462	C	T	43708462	3	4	234	1	0	0	0	0	1	0	0	0	16444	797	28	2	1127	2	TP53BP1	15	43708462	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	1575654	43708462	58822930	460	11206											
MYO5A	4644	broad.mit.edu	37	chr15	52664400	52664400	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttatagcgctccactgagCgagcctcgattttgagcttc	7	13	9	12	3	1	2	0	2	1	0	4	4	2	2	2	0	4	2	2	0	2	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:52664400C>T	ENST00000399231.3	-	21	2981	c.2738G>A	c.(2737-2739)cGc>cAc	p.R913H	MYO5A_ENST00000399233.2_Missense_Mutation_p.R913H|MYO5A_ENST00000553916.1_Missense_Mutation_p.R913H|MYO5A_ENST00000358212.6_Missense_Mutation_p.R913H|MYO5A_ENST00000356338.6_Missense_Mutation_p.R913H	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	913	IQ 6.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CTCCACTGAGCGAGCCTCGAT	0.522													12	35					0	0	1	0	0	T	52664400	C	T	52664400	3	4	234	1	0	0	0	0	1	0	0	0	10126	768	27	1	2913	1	MYO5A	15	52664400	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	8955938	52664400	49866992	461	11207											
PIGB	9488	broad.mit.edu	37	chr15	55621921	55621922	+	Splice_Site	INS	-	-	T																															tgctctgtactttttcttagINStttttttgccagttgtgctc																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:55621921_55621922insT	ENST00000164305.5	+	5	813_814		c.e5-1		PIGB_ENST00000539642.1_Splice_Site	NM_004855.4	NP_004846.4	Q92521	PIGB_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class B						C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		CTTTTTCTTAGTTTTTTTGCCA	0.342													16	78	---	---	---	---						T	55621922	-	T	55621921	8	5	234	1	0	1	1	0	0	0	1	0	11933	1043	36	0	540	0	PIGB	15	55621921	Splice_Site	INS	-	TCGA-J9-A52C-01A-11D-A26M-08	2957521	55621921	46909471	462	11208											
SNX1	6642	broad.mit.edu	37	chr15	64418402	64418402	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcattgtccctccgccccCggagaagagcctcataggta	8	9	9	15	2	2	2	2	0	0	2	4	3	4	2	5	2	1	1	5	2	3	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:64418402C>T	ENST00000353874.4	+	6	671	c.635C>T	c.(634-636)cCg>cTg	p.P212L	SNX1_ENST00000561026.1_Missense_Mutation_p.P147L|SNX1_ENST00000560829.1_Intron|SNX1_ENST00000559844.1_Missense_Mutation_p.P212L|SNX1_ENST00000261889.5_Missense_Mutation_p.P212L			Q13596	SNX1_HUMAN	sorting nexin 1	212	PX.				cell communication|early endosome to Golgi transport|endocytosis|intracellular protein transport	early endosome membrane|Golgi apparatus	phosphatidylinositol binding|protein binding|protein transporter activity			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						CCTCCGCCCCCGGAGAAGAGC	0.433													6	25					0	0	1	0	0	T	64418402	C	T	64418402	3	4	234	1	0	0	0	0	1	0	0	0	14934	652	23	1	657	1	SNX1	15	64418402	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	8796481	64418402	38112990	463	11209											
GRAMD2	196996	broad.mit.edu	37	chr15	72455746	72455746	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcatcttcttagggcaggCaggaccccagcctggcatgg	7	7	14	13	1	2	0	0	0	2	0	2	1	2	1	3	6	1	4	3	6	1	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:72455746C>T	ENST00000309731.7	-	10	830	c.817G>A	c.(817-819)Gcc>Acc	p.A273T	GRAMD2_ENST00000564184.1_5'UTR	NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	273						integral to membrane				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						TTAGGGCAGGCAGGACCCCAG	0.532													5	81					0	0	1	0	0	T	72455746	C	T	72455746	3	4	234	1	0	0	0	0	1	0	0	0	6791	710	25	2	259	2	GRAMD2	15	72455746	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	8037344	72455746	30075646	464	11210											
EDC3	80153	broad.mit.edu	37	chr15	74948199	74948199	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catttgggatgccccgggaaCgggtaccacttctcctttca	7	11	10	13	2	2	0	1	0	1	0	3	2	2	2	4	3	3	1	4	3	2	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:74948199C>T	ENST00000315127.4	-	4	876	c.695G>A	c.(694-696)cGt>cAt	p.R232H	EDC3_ENST00000426797.3_Missense_Mutation_p.R232H|EDC3_ENST00000568176.1_Missense_Mutation_p.R232H	NM_001142444.1|NM_025083.3	NP_001135916.1|NP_079359.2	Q96F86	EDC3_HUMAN	enhancer of mRNA decapping 3	232	Required for interaction with DDX6 (By similarity).				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						GCCCCGGGAACGGGTACCACT	0.502													11	51					0	0	1	0	0	T	74948199	C	T	74948199	3	4	234	1	0	0	0	0	1	0	0	0	4933	536	19	1	847	1	EDC3	15	74948199	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	2492453	74948199	27583193	465	11211											
CYP1A2	1544	broad.mit.edu	37	chr15	75047381	75047381	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacgggctgaccatgaagcaCgcccgctgtgaacatgtcca	10	7	11	13	3	0	3	0	3	0	0	1	3	1	3	3	1	3	3	3	1	3	1	rs111900570		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:75047381C>T	ENST00000343932.4	+	7	1566	c.1503C>T	c.(1501-1503)caC>caT	p.H501H		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	501					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	CCATGAAGCACGCCCGCTGTG	0.627													14	44					0	0	1	0	0	T	75047381	C	T	75047381	2	4	234	1	0	0	0	0	0	0	0	1	4173	535	19	1		1	CYP1A2	15	75047381	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	99182	75047381	27484011	466	11212											
NTRK3	4916	broad.mit.edu	37	chr15	88423505	88423505	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcaccccctttttacctccGtgtttgagagttggaaccat	7	13	8	13	2	0	1	0	1	0	1	1	3	1	2	5	1	2	3	5	1	2	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:88423505G>A	ENST00000394480.1	-	18	2609	c.2288C>T	c.(2287-2289)aCg>aTg	p.T763M	NTRK3_ENST00000360948.2_Missense_Mutation_p.T777M|NTRK3_ENST00000557856.1_Missense_Mutation_p.T755M|NTRK3_ENST00000355254.2_Missense_Mutation_p.T763M|NTRK3_ENST00000357724.2_Missense_Mutation_p.T769M	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	777	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TTTTACCTCCGTGTTTGAGAG	0.502			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)			12	67					0	0	1	0	0	A	88423505	G	A	88423505	3	1	234	1	0	0	0	0	1	0	0	0	10756	1145	40	1	197	1	NTRK3	15	88423505	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	13376124	88423505	14107887	467	11213											
MFGE8	4240	broad.mit.edu	37	chr15	89453092	89453092	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgaggggaagacatctcctcGcacttcttgggaaatctcct	9	10	10	12	2	3	1	0	0	3	1	6	4	3	3	2	3	0	1	2	3	2	2	rs141213799		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:89453092G>A	ENST00000539437.1	-	3	248	c.112C>T	c.(112-114)Cga>Tga	p.R38*	MFGE8_ENST00000566497.1_Nonsense_Mutation_p.R46*|MFGE8_ENST00000268151.7_Nonsense_Mutation_p.R46*|MFGE8_ENST00000268150.8_Nonsense_Mutation_p.R46*|MFGE8_ENST00000542878.1_Intron|MFGE8_ENST00000559997.1_Intron			Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein	46	EGF-like.				angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization					breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					ACATCTCCTCGCACTTCTTGG	0.532													15	104					0	0	1	0	0	A	89453092	G	A	89453092	4	1	234	1	0	0	0	0	0	1	0	0	9570	1095	38	1	1055	1	MFGE8	15	89453092	Nonsense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1029587	89453092	13078300	468	11214											
RLBP1	6017	broad.mit.edu	37	chr15	89760443	89760443	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttctcttgcaccctctccGccacggccaccgccagctcc	4	8	6	23	3	2	0	0	0	2	0	5	0	3	0	8	1	2	2	8	1	0	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:89760443G>A	ENST00000268125.5	-	5	693	c.254C>T	c.(253-255)gCg>gTg	p.A85V		NM_000326.4	NP_000317.1	P12271	RLBP1_HUMAN	retinaldehyde binding protein 1	85					response to stimulus|visual perception|vitamin A metabolic process	cytoplasm|soluble fraction	retinol binding|transporter activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1)	18	Lung NSC(78;0.0472)|all_lung(78;0.089)				Vitamin A(DB00162)	CACCCTCTCCGCCACGGCCAC	0.667													9	53					0	0	1	0	0	A	89760443	G	A	89760443	3	1	234	1	0	0	0	0	1	0	0	0	13440	1087	38	1	719	1	RLBP1	15	89760443	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	307351	89760443	12770949	469	11215											
FES	2242	broad.mit.edu	37	chr15	91433508	91433508	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgccactccacgtcgtcctcGgtgagctgccccatccgcgg	4	7	11	19	6	0	1	0	1	0	0	5	1	3	1	6	2	2	1	6	2	0	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:91433508G>A	ENST00000328850.3	+	9	1378	c.1236_splice	c.e9+1	p.S412_splice	FES_ENST00000414248.2_Splice_Site_p.S354_splice|FES_ENST00000448367.1_3'UTR|FES_ENST00000450438.2_Splice_Site_p.S354_splice|FES_ENST00000444422.2_Splice_Site_p.S412_splice|FES_ENST00000394300.3_Splice_Site_p.S354_splice|FES_ENST00000394302.1_Splice_Site_p.S354_splice	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	feline sarcoma oncogene	412					axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CGTCGTCCTCGGTGAGCTGCC	0.726													4	22					0	0	1	0	0	A	91433508	G	A	91433508	5	1	234	1	0	0	0	0	0	0	1	0	5853	1130	39	1	1266	1	FES	15	91433508	Splice_Site	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1673065	91433508	11097884	470	11216											
SV2B	9899	broad.mit.edu	37	chr15	91769602	91769602	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgcacagagtgatgtcaccGaaggccatgatgaggaagac	14	6	13	8	1	1	5	1	3	0	2	1	7	1	6	2	2	1	1	2	2	2	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:91769602G>A	ENST00000394232.1	+	2	579	c.109G>A	c.(109-111)Gaa>Aaa	p.E37K	SV2B_ENST00000557291.1_Intron|SV2B_ENST00000330276.4_Missense_Mutation_p.E37K|SV2B_ENST00000545111.2_Intron	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	37					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			TGATGTCACCGAAGGCCATGA	0.537													12	58					0	0	1	0	0	A	91769602	G	A	91769602	3	1	234	1	0	0	0	0	1	0	0	0	15474	1059	37	1	111	1	SV2B	15	91769602	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	336094	91769602	10761790	471	11217											
RGMA	56963	broad.mit.edu	37	chr15	93595350	93595350	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggaagcggtcggtgaaaGtcctgaggtgtgggtccccg	6	9	17	9	3	1	2	0	2	1	0	4	3	3	3	3	5	1	0	3	5	2	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:93595350G>A	ENST00000329082.7	-	3	789	c.518C>T	c.(517-519)aCt>aTt	p.T173I	RGMA_ENST00000425933.2_Missense_Mutation_p.T157I|RGMA_ENST00000556087.1_Missense_Mutation_p.T157I|RGMA_ENST00000556658.1_Missense_Mutation_p.T64I|RGMA_ENST00000542321.2_Missense_Mutation_p.T157I|RGMA_ENST00000557420.1_Intron|RGMA_ENST00000538818.1_Missense_Mutation_p.T64I|RGMA_ENST00000543599.1_Missense_Mutation_p.T157I|RGMA_ENST00000557301.1_Missense_Mutation_p.T181I	NM_020211.2	NP_064596.2	Q96B86	RGMA_HUMAN	repulsive guidance molecule family member a	173					axon guidance	anchored to membrane|endoplasmic reticulum|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			GTCGGTGAAAGTCCTGAGGTG	0.602													4	22					0	0	1	0	0	A	93595350	G	A	93595350	3	1	234	1	0	0	0	0	1	0	0	0	13332	1029	36	2	842	2	RGMA	15	93595350	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1825748	93595350	8936042	472	11218											
LRRK1	79705	broad.mit.edu	37	chr15	101528929	101528929	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaagctcctggtcctgaCgcacggggctgacccggaga	7	7	15	12	3	0	4	0	3	0	1	2	5	2	4	3	4	1	3	3	4	1	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr15:101528929C>T	ENST00000284395.5	+	6	915	c.515C>T	c.(514-516)aCg>aTg	p.T172M	LRRK1_ENST00000532029.2_Missense_Mutation_p.T175M|LRRK1_ENST00000388948.3_Missense_Mutation_p.T175M			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	175					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.T148M(2)|p.T175M(1)		breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTGGTCCTGACGCACGGGGCT	0.632													15	67					0	0	1	0	0	T	101528929	C	T	101528929	3	4	234	1	0	0	0	0	1	0	0	0	9077	536	19	1	538	1	LRRK1	15	101528929	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	7933579	101528929	1002463	473	11219											
RHBDF1	64285	broad.mit.edu	37	chr16	108437	108437	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacagcggacaggatagaCgtagaagaggaccaccaggc	14	3	13	11	2	1	3	1	0	0	3	1	6	1	6	2	4	1	1	2	4	3	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:108437C>T	ENST00000262316.6	-	18	2612	c.2470G>A	c.(2470-2472)Gtc>Atc	p.V824I		NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	824					cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				ACAGGATAGACGTAGAAGAGG	0.557													19	134					0	0	1	0	0	T	108437	C	T	108437	3	4	234	1	0	0	0	0	1	0	0	0	13369	536	19	1	101	1	RHBDF1	16	108437	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08		108437	90246316	474	11220											
PIGQ	9091	broad.mit.edu	37	chr16	630925	630925	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacctcatcaactccctgcCgctgtactcactgggtcttc	6	11	8	16	1	4	0	3	0	1	0	6	1	5	1	3	2	3	2	3	2	2	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:630925C>T	ENST00000321878.5	+	9	1643	c.1484C>T	c.(1483-1485)cCg>cTg	p.P495L	PIGQ_ENST00000026218.5_Missense_Mutation_p.P495L|PIGQ_ENST00000409527.2_Missense_Mutation_p.P495L	NM_004204.3	NP_004195.2	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	495	Leu-rich.				C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				AACTCCCTGCCGCTGTACTCA	0.657													28	148					0	0	1	0	0	T	630925	C	T	630925	3	4	234	1	0	0	0	0	1	0	0	0	11944	652	23	1	1514	1	PIGQ	16	630925	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	522488	630925	89723828	475	11221											
CCDC78	124093	broad.mit.edu	37	chr16	775122	775122	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgggcctcctgatgctccagCgcccacttcacttccccctg	4	9	8	20	2	1	1	1	1	0	0	4	1	4	1	6	1	2	1	6	1	0	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:775122C>T	ENST00000293889.6	-	6	621	c.516G>A	c.(514-516)gcG>gcA	p.A172A		NM_001031737.2	NP_001026907.2	A2IDD5	CCD78_HUMAN	coiled-coil domain containing 78	172										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3)	9		Hepatocellular(780;0.0218)				GATGCTCCAGCGCCCACTTCA	0.652													14	75					0	0	1	0	0	T	775122	C	T	775122	2	4	234	1	0	0	0	0	0	0	0	1	2872	755	27	1		1	CCDC78	16	775122	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	144197	775122	89579631	476	11222											
PTX4	390667	broad.mit.edu	37	chr16	1536525	1536525	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acgaaaccagggctgaggaaGaccacgttcctggtggaggc	11	5	15	10	2	0	2	0	1	0	1	1	5	1	4	3	5	1	2	3	5	2	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:1536525G>A	ENST00000440447.2	-	3	478	c.407C>T	c.(406-408)tCt>tTt	p.S136F	PTX4_ENST00000293922.1_Silent_p.V279V|PTX4_ENST00000447419.2_Silent_p.V284V			Q96A99	PTX4_HUMAN	pentraxin 4, long	0						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						GGCTGAGGAAGACCACGTTCC	0.662													11	48					0	0	1	0	0	A	1536525	G	A	1536525	3	1	234	1	0	0	0	0	1	0	0	0	12875	929	33	2	587	2	PTX4	16	1536525	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	761403	1536525	88818228	477	11223											
CRAMP1L	57585	broad.mit.edu	37	chr16	1716527	1716527	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctctccactgtcttcagacGaggtgacgggtgccatctcg	6	11	11	13	3	4	2	1	1	3	1	7	3	5	2	2	2	1	0	2	2	0	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:1716527G>A	ENST00000397412.3	+	16	3061	c.2962G>A	c.(2962-2964)Gag>Aag	p.E988K	LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.E985K|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.E988K|CRAMP1L_ENST00000262317.4_Missense_Mutation_p.E366K			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	988						nucleus	DNA binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						GTCTTCAGACGAGGTGACGGG	0.582													4	28					0	0	1	0	0	A	1716527	G	A	1716527	3	1	234	1	0	0	0	0	1	0	0	0	3869	1059	37	1	3020	1	CRAMP1L	16	1716527	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	180002	1716527	88638226	478	11224											
EME2	197342	broad.mit.edu	37	chr16	1826215	1826215	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaccacagccaaccctgaTctcctgctggacctgggctc	7	8	9	17	0	1	2	0	2	1	0	3	3	1	3	5	2	3	2	5	2	1	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:1826215T>A	ENST00000307394.7	+	8	1311	c.1311T>A	c.(1309-1311)gaT>gaA	p.D437E	EME2_ENST00000568449.1_Missense_Mutation_p.D372E			A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	372					DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						CCAACCCTGATCTCCTGCTGG	0.692								Direct reversal of damage;Homologous recombination					19	107					0	0	1	0	0	A	1826215	T	A	1826215	3	1	234	1	0	0	0	0	1	0	0	0	5117	1432	50	5	1341	5	EME2	16	1826215	Missense_Mutation	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	109688	1826215	88528538	479	11225											
NOXO1	0	broad.mit.edu	37	chr16	2030958	2030958	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttgagctgcctgaattcGtcccaactcctgcgcacgaa	9	9	8	15	3	0	2	0	2	0	0	3	3	2	2	4	0	4	2	4	0	3	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:2030958G>A	ENST00000354249.4	-	2	498	c.129C>T	c.(127-129)gaC>gaT	p.D43D	NOXO1_ENST00000566005.1_Silent_p.D43D|NOXO1_ENST00000397280.4_Silent_p.D43D|NOXO1_ENST00000356120.4_Silent_p.D43D|TBL3_ENST00000568546.1_3'UTR	NM_001267721.1|NM_144603.3|NM_172167.2|NM_172168.2	NP_001254650.1|NP_653204.1|NP_751907.1|NP_751908.1	Q8NFA2	NOXO1_HUMAN	NADPH oxidase organizer 1	43	PX.				cell communication|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst	NADPH oxidase complex	enzyme binding|phosphatidylinositol binding|superoxide-generating NADPH oxidase activator activity			lung(2)	2						GCCTGAATTCGTCCCAACTCC	0.642													12	36					0	0	1	0	0	A	2030958	G	A	2030958	2	1	234	1	0	0	0	0	0	0	0	1	10608	1136	40	1		1	NOXO1	16	2030958	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	204743	2030958	88323795	480	11226											
TRAP1	10131	broad.mit.edu	37	chr16	3727584	3727594	+	Frame_Shift_Del	DEL	AGTAGAAACCC	AGTAGAAACCC	-																															gtcagccaccatgaaagctgAgtagaaacccactccaaact																								rs149991698		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:3727584_3727594delAGTAGAAACCC	ENST00000246957.5	-	6	697_707	c.609_619delGGGTTTCTACT	c.(607-621)gtcafs	p.VGFYS203fs	TRAP1_ENST00000575671.1_5'UTR|TRAP1_ENST00000538171.1_Frame_Shift_Del_p.VGFYS150fs|TRAP1_ENST00000573872.1_5'UTR	NM_016292.2	NP_057376.2	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1	203					cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				ATGAAAGCTGAGTAGAAACCCACTCCAAACT	0.592													7	76	---	---	---	---						-	3727594	AGTAGAAACCC	-	3727584	7	5	234	1	0	1	0	1	0	0	0	0	16516	304	11	0	1547	0	TRAP1	16	3727584	Frame_Shift_Del	DEL	AGTAGAAACCC	TCGA-J9-A52C-01A-11D-A26M-08	1696626	3727584	86627169	481	11227											
CREBBP	1387	broad.mit.edu	37	chr16	3781218	3781218	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacagtgcagtgccagcgcGtctccacgtggtgcttgcac	7	8	12	14	3	1	0	0	0	1	0	2	0	1	0	2	1	5	3	2	1	0	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:3781218G>A	ENST00000262367.5	-	30	5956	c.5147C>T	c.(5146-5148)aCg>aTg	p.T1716M	CREBBP_ENST00000382070.3_Missense_Mutation_p.T1678M	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1716	Interaction with TRERF1.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GTGCCAGCGCGTCTCCACGTG	0.657			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						11	53					0	0	1	0	0	A	3781218	G	A	3781218	3	1	234	1	0	0	0	0	1	0	0	0	3884	1145	40	1	2189	1	CREBBP	16	3781218	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	53634	3781218	86573535	482	11228											
UBN1	29855	broad.mit.edu	37	chr16	4910928	4910928	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgccatggactcgctgaCggatttggacttggagcatc	8	10	12	11	2	0	1	0	1	0	0	2	5	0	5	1	4	2	2	1	4	0	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:4910928C>T	ENST00000396658.4	+	6	1638	c.935C>T	c.(934-936)aCg>aTg	p.T312M	UBN1_ENST00000262376.6_Missense_Mutation_p.T312M|UBN1_ENST00000585857.1_3'UTR|UBN1_ENST00000545171.1_Missense_Mutation_p.T312M|UBN1_ENST00000590769.1_Missense_Mutation_p.T312M	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	312					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						GACTCGCTGACGGATTTGGAC	0.562													13	60					0	0	1	0	0	T	4910928	C	T	4910928	3	4	234	1	0	0	0	0	1	0	0	0	16953	536	19	1	957	1	UBN1	16	4910928	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	1129710	4910928	85443825	483	11229											
PPL	5493	broad.mit.edu	37	chr16	4944500	4944500	+	Frame_Shift_Del	DEL	G	G	-																															gccagggcctcagggtctgtGggggggatcacaaaacacac																								rs147027769		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:4944500delG	ENST00000345988.2	-	12	1451	c.1362delC	c.(1360-1362)ccfs	p.P454fs	PPL_ENST00000590782.2_Frame_Shift_Del_p.P452fs	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	454					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	p.T455fs*4(1)		breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CAGGGTCTGTGGGGGGGATCA	0.612													17	66	---	---	---	---						-	4944500	G	-	4944500	7	5	234	1	0	1	0	1	0	0	0	0	12383	1335	47	0	3952	0	PPL	16	4944500	Frame_Shift_Del	DEL	G	TCGA-J9-A52C-01A-11D-A26M-08	33572	4944500	85410253	484	11230											
FAM86A	196483	broad.mit.edu	37	chr16	5140531	5140531	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaccgtaggagatgatggcCgtgctctcggagagtgtgac	8	9	16	8	3	1	4	0	2	1	2	2	6	1	4	2	3	2	3	2	3	2	2	rs138095454		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:5140531C>T	ENST00000427587.4	-	5	446	c.378G>A	c.(376-378)acG>acA	p.T126T	FAM86A_ENST00000458008.4_Silent_p.T92T|FAM86A_ENST00000587133.1_Silent_p.T65T	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN	family with sequence similarity 86, member A	126										endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						AGATGATGGCCGTGCTCTCGG	0.587													10	84					0	0	1	0	0	T	5140531	C	T	5140531	2	4	234	1	0	0	0	0	0	0	0	1	5675	639	23	1		1	FAM86A	16	5140531	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	196031	5140531	85214222	485	11231											
PRM2	5620	broad.mit.edu	37	chr16	11369998	11369998	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctgcaggagcgtcttttgCgccttctgcaggagcgatgc	5	10	14	12	3	2	0	0	0	2	0	2	3	2	2	2	2	6	2	2	2	0	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:11369998C>T	ENST00000435245.2	-	1	339	c.230G>A	c.(229-231)cGc>cAc	p.R77H	PRM2_ENST00000241808.4_Missense_Mutation_p.R77H|RMI2_ENST00000572173.1_Intron			P04554	PRM2_HUMAN	protamine 2	77					chromosome condensation|multicellular organismal development	nucleoplasm|nucleosome	DNA binding	p.0?(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)	7						GCGTCTTTTGCGCCTTCTGCA	0.652													11	42					0	0	1	0	0	T	11369998	C	T	11369998	3	4	234	1	0	0	0	0	1	0	0	0	12585	768	27	1	86	1	PRM2	16	11369998	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	6229467	11369998	78984755	486	11232											
XYLT1	64131	broad.mit.edu	37	chr16	17221564	17221564	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaagtcactgggtgggcttgCgatcttgaagacttttttcg	8	14	12	7	2	2	2	1	1	1	1	3	3	2	2	0	2	1	1	0	2	2	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:17221564C>T	ENST00000261381.6	-	10	2266	c.2182G>A	c.(2182-2184)Gca>Aca	p.A728T		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	728					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGTGGGCTTGCGATCTTGAAG	0.488													26	133					0	0	1	0	0	T	17221564	C	T	17221564	3	4	234	1	0	0	0	0	1	0	0	0	17523	768	27	1	709	1	XYLT1	16	17221564	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	5851566	17221564	73133189	487	11233											
ITPRIPL2	162073	broad.mit.edu	37	chr16	19126687	19126687	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactgactacggctgctgcCgcctttctatggctgtgcgt	4	12	12	13	3	1	1	0	1	1	0	1	1	1	1	2	2	4	4	2	2	2	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:19126687C>T	ENST00000381440.3	+	1	1434	c.904C>T	c.(904-906)Cgc>Tgc	p.R302C	CTD-2349B8.1_ENST00000564808.2_Intron	NM_001034841.3	NP_001030013.1	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 2	302						integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CGGCTGCTGCCGCCTTTCTAT	0.662											OREG0023657	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	69					0	0	1	0	0	T	19126687	C	T	19126687	3	4	234	1	0	0	0	0	1	0	0	0	7969	652	23	1	906	1	ITPRIPL2	16	19126687	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	1905123	19126687	71228066	488	11234											
ERN2	10595	broad.mit.edu	37	chr16	23712400	23712400	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttcttctggatgcagctcGgagtcccaaagtttctctcg	6	15	9	11	2	3	0	0	0	3	0	7	2	4	2	1	2	2	3	1	2	1	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:23712400G>A	ENST00000256797.4	-	12	1551	c.1383C>T	c.(1381-1383)tcC>tcT	p.S461S	ERN2_ENST00000457008.2_Intron	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	413					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		GATGCAGCTCGGAGTCCCAAA	0.552													13	57					0	0	1	0	0	A	23712400	G	A	23712400	2	1	234	1	0	0	0	0	0	0	0	1	5266	1103	39	1		1	ERN2	16	23712400	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	4585713	23712400	66642353	489	11235											
KIAA0556	23247	broad.mit.edu	37	chr16	27689214	27689214	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccgccctccttccagtggCgactggactcagaaagatgt	9	8	11	13	2	1	2	1	0	0	2	3	5	3	3	4	2	0	0	4	2	1	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:27689214C>T	ENST00000261588.4	+	7	724	c.705C>T	c.(703-705)ggC>ggT	p.G235G	KIAA0556_ENST00000567894.1_3'UTR	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	235										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						CTTCCAGTGGCGACTGGACTC	0.562													10	51					0	0	1	0	0	T	27689214	C	T	27689214	2	4	234	1	0	0	0	0	0	0	0	1	8225	755	27	1		1	KIAA0556	16	27689214	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	3976814	27689214	62665539	490	11236											
SULT1A1	6817	broad.mit.edu	37	chr16	28620207	28620207	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggggccagagccaggcccGttcccttaccaccatcacaa	10	5	9	17	1	1	1	1	0	0	1	2	1	2	1	6	3	2	1	6	3	2	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:28620207G>A	ENST00000569554.1	-	0	34				SULT1A1_ENST00000395607.1_Intron|SULT1A1_ENST00000350842.4_Intron|SULT1A1_ENST00000314752.7_Intron|SULT1A1_ENST00000395609.1_Intron			P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1						3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						AGCCAGGCCCGTTCCCTTACC	0.582													8	73					0	0	1	0	0	A	28620207	G	A	28620207	1	1	234	1	0	0	0	0	0	0	0	0	15428	1160	40	1		1	SULT1A1	16	28620207	Translation_Start_Site	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	930993	28620207	61734546	491	11237											
SEZ6L2	26470	broad.mit.edu	37	chr16	29884628	29884628	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacaggtgatggtgacctcGccgataagctcaaagccctc	11	7	10	13	2	1	2	1	2	0	0	3	3	1	2	3	2	2	1	3	2	2	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:29884628G>A	ENST00000308713.5	-	14	2948	c.2421C>T	c.(2419-2421)ggC>ggT	p.G807G	SEZ6L2_ENST00000537485.1_Silent_p.G763G|SEZ6L2_ENST00000350527.3_Silent_p.G737G|SEZ6L2_ENST00000346932.5_Silent_p.G693G	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	807	Sushi 5.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGGTGACCTCGCCGATAAGCT	0.642													16	73					0	0	1	0	0	A	29884628	G	A	29884628	2	1	234	1	0	0	0	0	0	0	0	1	14198	1074	38	1		1	SEZ6L2	16	29884628	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1264421	29884628	60470125	492	11238											
SHCBP1	79801	broad.mit.edu	37	chr16	46638334	46638334	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agattgtggtagtcaacaatAagtcctgatggaactcggtc	12	11	11	7	1	1	2	1	1	0	1	4	3	2	3	1	3	2	1	1	3	5	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:46638334A>G	ENST00000303383.3	-	6	995	c.729T>C	c.(727-729)ctT>ctC	p.L243L		NM_024745.4	NP_079021.3	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	243										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				AGTCAACAATAAGTCCTGATG	0.373													16	69					0	0	1	0	0	G	46638334	A	G	46638334	2	3	234	1	0	0	0	0	0	0	0	1	14329	349	13	3		3	SHCBP1	16	46638334	Silent	SNP	A	TCGA-J9-A52C-01A-11D-A26M-08	16753706	46638334	43716419	493	11239											
PHKB	5257	broad.mit.edu	37	chr16	47630341	47630341	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgactttgtagaatatgaaaAaaataaccctggtagtcaaa	18	11	7	5	0	1	3	1	2	0	1	1	3	1	3	1	1	1	2	1	1	9	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:47630341A>T	ENST00000455779.1	+	14	1426	c.1241A>T	c.(1240-1242)aAa>aTa	p.K414I	PHKB_ENST00000299167.8_Missense_Mutation_p.K421I|PHKB_ENST00000323584.5_Missense_Mutation_p.K421I|PHKB_ENST00000566044.1_Missense_Mutation_p.K414I			Q93100	KPBB_HUMAN	phosphorylase kinase, beta	421					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				GAATATGAAAAAAATAACCCT	0.348													6	77					0	0	1	0	0	T	47630341	A	T	47630341	3	4	234	1	0	0	0	0	1	0	0	0	11893	14	1	5	1371	5	PHKB	16	47630341	Missense_Mutation	SNP	A	TCGA-J9-A52C-01A-11D-A26M-08	992007	47630341	42724412	494	11240											
CCL17	6361	broad.mit.edu	37	chr16	57447847	57447847	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctgggctcctggcaccatGgccccactgaagatgctggc	6	8	12	15	0	0	2	0	1	0	1	2	2	2	2	5	4	1	3	5	4	1	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:57447847G>A	ENST00000219244.4	+	2	132	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_002987.2	NP_002978.1	Q92583	CCL17_HUMAN	chemokine (C-C motif) ligand 17	1					cell-cell signaling|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|multicellular organismal development	extracellular space	chemokine activity			breast(1)|endometrium(1)|lung(2)|ovary(1)	5						CTGGCACCATGGCCCCACTGA	0.642													5	10					0	0	1	0	0	A	57447847	G	A	57447847	1	1	234	1	0	0	0	0	0	0	0	0	2908	1348	47	2		2	CCL17	16	57447847	Translation_Start_Site	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	9817506	57447847	32906906	495	11241											
CNOT1	23019	broad.mit.edu	37	chr16	58615359	58615359	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgaagtcctttactgtcacGaatttgaaatccaggatggt	12	13	9	7	1	1	2	1	2	0	0	3	4	3	3	2	2	1	0	2	2	4	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:58615359G>A	ENST00000317147.5	-	11	1437	c.1105C>T	c.(1105-1107)Cgt>Tgt	p.R369C	CNOT1_ENST00000441024.2_Missense_Mutation_p.R369C|CNOT1_ENST00000569240.1_Missense_Mutation_p.R369C	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	369					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		p.R369C(2)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TTACTGTCACGAATTTGAAAT	0.373													7	40					0	0	1	0	0	A	58615359	G	A	58615359	3	1	234	1	0	0	0	0	1	0	0	0	3640	1058	37	1	6403	1	CNOT1	16	58615359	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1167512	58615359	31739394	496	11242											
NAE1	8883	broad.mit.edu	37	chr16	66852502	66852502	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggaaatggcttatctagtcGtagatcctctaatgcattat	12	14	8	7	1	2	1	0	0	2	1	4	2	3	2	1	2	1	3	1	2	6	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:66852502G>A	ENST00000379463.2	-	9	724	c.532C>T	c.(532-534)Cga>Tga	p.R178*	NAE1_ENST00000359087.4_Nonsense_Mutation_p.R187*|NAE1_ENST00000394074.2_Nonsense_Mutation_p.R95*|NAE1_ENST00000290810.3_Nonsense_Mutation_p.R184*	NM_001018159.1	NP_001018169.1	Q13564	ULA1_HUMAN	NEDD8 activating enzyme E1 subunit 1	184					apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction	cytoplasm|insoluble fraction|plasma membrane	catalytic activity|protein heterodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	TTATCTAGTCGTAGATCCTCT	0.328													3	20					0	0	1	0	0	A	66852502	G	A	66852502	4	1	234	1	0	0	0	0	0	1	0	0	10187	1153	40	1	1106	1	NAE1	16	66852502	Nonsense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	8237143	66852502	23502251	497	11243											
CDH16	1014	broad.mit.edu	37	chr16	66946460	66946460	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatatctgtgactgcgacttCgacttcacacgtgctgctga	8	12	10	11	3	2	2	1	2	1	0	3	5	2	2	0	0	3	2	0	0	1	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:66946460C>T	ENST00000299752.4	-	11	1499	c.1306G>A	c.(1306-1308)Gaa>Aaa	p.E436K	CDH16_ENST00000565796.1_Missense_Mutation_p.E436K|CDH16_ENST00000568632.1_Missense_Mutation_p.E339K|CDH16_ENST00000394055.3_Missense_Mutation_p.E436K|CDH16_ENST00000570262.1_Missense_Mutation_p.E356K	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	436	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		ACTGCGACTTCGACTTCACAC	0.592													14	45					0	0	1	0	0	T	66946460	C	T	66946460	3	4	234	1	0	0	0	0	1	0	0	0	3123	893	31	1	1215	1	CDH16	16	66946460	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	93958	66946460	23408293	498	11244											
LRRC29	26231	broad.mit.edu	37	chr16	67241597	67241597	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttggaagcgtctgacggCggccatgttgatgccagggc	6	8	17	10	3	1	2	0	2	1	0	1	3	1	3	2	5	2	2	2	5	1	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:67241597C>T	ENST00000409037.1	-	4	1479	c.583G>A	c.(583-585)Gcc>Acc	p.A195T	LRRC29_ENST00000341546.3_Missense_Mutation_p.A195T|LRRC29_ENST00000409509.1_Missense_Mutation_p.A195T|LRRC29_ENST00000393992.1_Missense_Mutation_p.A195T			Q8WV35	LRC29_HUMAN	leucine rich repeat containing 29	195										autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		CGTCTGACGGCGGCCATGTTG	0.647													7	48					0	0	1	0	0	T	67241597	C	T	67241597	3	4	234	1	0	0	0	0	1	0	0	0	9028	768	27	1	92	1	LRRC29	16	67241597	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	295137	67241597	23113156	499	11245											
GFOD2	81577	broad.mit.edu	37	chr16	67709621	67709621	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgaatgtcttgagcagccCgtgcaccttctcggctctcc	6	10	9	16	3	3	1	0	1	3	0	5	2	3	1	3	1	3	3	3	1	1	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:67709621C>T	ENST00000268797.7	-	3	940	c.595G>A	c.(595-597)Ggg>Agg	p.G199R	GFOD2_ENST00000602377.1_5'UTR	NM_030819.3	NP_110446.3	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain containing 2	199						proteinaceous extracellular matrix	binding|oxidoreductase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		TTGAGCAGCCCGTGCACCTTC	0.617													10	48					0	0	1	0	0	T	67709621	C	T	67709621	3	4	234	1	0	0	0	0	1	0	0	0	6386	652	23	1	566	1	GFOD2	16	67709621	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	468024	67709621	22645132	500	11246											
SLC12A4	6560	broad.mit.edu	37	chr16	67981973	67981973	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcatggctcaccagtgatagTacttgaaccggggccgccag	9	7	13	12	2	1	2	1	2	0	0	1	2	1	2	4	3	2	3	4	3	3	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:67981973T>C	ENST00000422611.2	-	13	1883	c.1844A>G	c.(1843-1845)tAc>tGc	p.Y615C	SLC12A4_ENST00000576616.1_Missense_Mutation_p.Y613C|SLC12A4_ENST00000316341.3_Missense_Mutation_p.Y613C|SLC12A4_ENST00000541864.2_Missense_Mutation_p.Y582C|SLC12A4_ENST00000537830.2_Missense_Mutation_p.Y607C|SLC12A4_ENST00000572037.1_Missense_Mutation_p.Y565C|SLC12A4_ENST00000338335.3_Missense_Mutation_p.Y613C	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	613					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCAGTGATAGTACTTGAACCG	0.602													21	126					0	0	1	0	0	C	67981973	T	C	67981973	3	2	234	1	0	0	0	0	1	0	0	0	14440	1638	57	3	1463	3	SLC12A4	16	67981973	Missense_Mutation	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	272352	67981973	22372780	501	11247											
SLC12A4	6560	broad.mit.edu	37	chr16	67984313	67984315	+	In_Frame_Del	DEL	AAG	AAG	-																															ggccagcgccacacgttgaaAagaaggagccgatgacgatg																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:67984313_67984315delAAG	ENST00000422611.2	-	11	1581_1583	c.1542_1544delCTT	c.(1540-1545)ttt>tt	p.FF514del	SLC12A4_ENST00000572037.1_In_Frame_Del_p.FF464del|SLC12A4_ENST00000576616.1_In_Frame_Del_p.FF512del|SLC12A4_ENST00000541864.2_In_Frame_Del_p.FF481del|SLC12A4_ENST00000316341.3_In_Frame_Del_p.FF512del|SLC12A4_ENST00000537830.2_In_Frame_Del_p.FF506del|SLC12A4_ENST00000338335.3_In_Frame_Del_p.FF512del	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	512					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	ACACGTTGAAAAGAAGGAGCCGA	0.621													19	43	---	---	---	---						-	67984315	AAG	-	67984313	7	5	234	1	0	1	0	1	0	0	0	0	14440	14	1	0	1771	0	SLC12A4	16	67984313	In_Frame_Del	DEL	AAG	TCGA-J9-A52C-01A-11D-A26M-08	2340	67984313	22370440	502	11248											
DHX38	9785	broad.mit.edu	37	chr16	72142749	72142749	+	Frame_Shift_Del	DEL	C	C	-																															gggatgccctgccacttgcaCcccaccagctccctttttgg																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:72142749delC	ENST00000268482.3	+	24	3815	c.3306delC	c.(3304-3306)cafs	p.H1102fs	DHX38_ENST00000536867.1_Frame_Shift_Del_p.H414fs	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	1102					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				GCCACTTGCACCCCACCAGCT	0.527													8	36	---	---	---	---						-	72142749	C	-	72142749	7	5	234	1	0	1	0	1	0	0	0	0	4539	506	18	0	3396	0	DHX38	16	72142749	Frame_Shift_Del	DEL	C	TCGA-J9-A52C-01A-11D-A26M-08	4158436	72142749	18212004	503	11249											
PMFBP1	83449	broad.mit.edu	37	chr16	72157464	72157464	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttctgctgttttgcccattGctccaagttggtcataatct	6	17	7	11	0	3	0	1	0	2	0	4	0	4	0	2	1	3	4	2	1	2	6			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:72157464G>A	ENST00000537465.1	-	18	2847	c.2689C>T	c.(2689-2691)Caa>Taa	p.Q897*	PMFBP1_ENST00000355636.6_Nonsense_Mutation_p.Q747*|PMFBP1_ENST00000537792.1_Nonsense_Mutation_p.Q58*|PMFBP1_ENST00000237353.10_Nonsense_Mutation_p.Q892*			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	897										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				TTTGCCCATTGCTCCAAGTTG	0.547													5	33					0	0	1	0	0	A	72157464	G	A	72157464	4	1	234	1	0	0	0	0	0	1	0	0	12182	1328	46	2	425	2	PMFBP1	16	72157464	Nonsense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	14715	72157464	18197289	504	11250											
ZFHX3	463	broad.mit.edu	37	chr16	72829811	72829811	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggcatcgaagaagtcctgtAagaccctcagctggtagtcc	10	9	11	11	1	1	2	1	0	0	2	4	3	3	2	3	2	1	4	3	2	4	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:72829811A>G	ENST00000268489.5	-	9	7442	c.6770T>C	c.(6769-6771)tTa>tCa	p.L2257S	ZFHX3_ENST00000397992.5_Missense_Mutation_p.L1343S	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2257					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GAAGTCCTGTAAGACCCTCAG	0.493													19	109					0	0	1	0	0	G	72829811	A	G	72829811	3	3	234	1	0	0	0	0	1	0	0	0	17692	372	13	3	4349	3	ZFHX3	16	72829811	Missense_Mutation	SNP	A	TCGA-J9-A52C-01A-11D-A26M-08	672347	72829811	17524942	505	11251											
ZFHX3	463	broad.mit.edu	37	chr16	72991758	72991758	+	Frame_Shift_Del	DEL	C	C	-																															agtgtggctgaagacctgctCcccccctccattctgcaggt																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:72991758delC	ENST00000268489.5	-	2	2959	c.2287delG	c.(2287-2289)agfs	p.E763fs	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	763					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AAGACCTGCTCCCCCCCTCCA	0.622													21	41	---	---	---	---						-	72991758	C	-	72991758	7	5	234	1	0	1	0	1	0	0	0	0	17692	864	30	0	8860	0	ZFHX3	16	72991758	Frame_Shift_Del	DEL	C	TCGA-J9-A52C-01A-11D-A26M-08	161947	72991758	17362995	506	11252											
CHST5	23563	broad.mit.edu	37	chr16	75563937	75563937	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaagatagagcgcatcaggtCgcgcacggccatgtgcagcg	11	5	14	11	5	1	2	1	0	0	2	2	2	1	2	1	2	3	3	1	2	2	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:75563937C>T	ENST00000336257.3	-	3	1740	c.346G>A	c.(346-348)Gac>Aac	p.D116N	CHST5_ENST00000541075.1_Missense_Mutation_p.D122N|RP11-77K12.7_ENST00000460606.1_3'UTR	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	116					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						CGCATCAGGTCGCGCACGGCC	0.612													13	60					0	0	1	0	0	T	75563937	C	T	75563937	3	4	234	1	0	0	0	0	1	0	0	0	3429	884	31	1	893	1	CHST5	16	75563937	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	2572179	75563937	14790816	507	11253											
ADAMTS18	170692	broad.mit.edu	37	chr16	77401347	77401347	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttacatacatttcttgcGtcgtccacaaaaatgctgct	10	14	5	12	2	1	0	0	0	1	0	4	0	3	0	2	0	5	2	2	0	4	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:77401347G>A	ENST00000282849.5	-	4	1187	c.769C>T	c.(769-771)Cgc>Tgc	p.R257C		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	257					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CATTTCTTGCGTCGTCCACAA	0.443													7	43					0	0	1	0	0	A	77401347	G	A	77401347	3	1	234	1	0	0	0	0	1	0	0	0	262	1145	40	1	2976	1	ADAMTS18	16	77401347	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1837410	77401347	12953406	508	11254											
MBTPS1	8720	broad.mit.edu	37	chr16	84104352	84104352	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaacttcaatgttgtctccGttctgtggcaaatagggctg	8	13	11	9	1	3	0	1	0	2	0	4	0	3	0	1	2	1	5	1	2	4	4	rs141003439		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:84104352G>A	ENST00000343411.3	-	13	2118	c.1623C>T	c.(1621-1623)aaC>aaT	p.N541N	MBTPS1_ENST00000569770.1_5'UTR	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	541					cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TGTTGTCTCCGTTCTGTGGCA	0.493													13	53					0	0	1	0	0	A	84104352	G	A	84104352	2	1	234	1	0	0	0	0	0	0	0	1	9411	1136	40	1		1	MBTPS1	16	84104352	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	6703005	84104352	6250401	509	11255											
TAF1C	9013	broad.mit.edu	37	chr16	84215231	84215231	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccacaggcagacggctcccGagcggctgcagatggccagc	8	4	14	15	3	0	2	0	0	0	2	2	3	2	2	3	4	3	4	3	4	0	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:84215231G>A	ENST00000567759.1	-	9	1255	c.1073C>T	c.(1072-1074)tCg>tTg	p.S358L	TAF1C_ENST00000566732.1_Missense_Mutation_p.S332L|TAF1C_ENST00000341690.6_Missense_Mutation_p.S265L|TAF1C_ENST00000570117.1_Missense_Mutation_p.S26L|TAF1C_ENST00000378541.4_Missense_Mutation_p.S358L|TAF1C_ENST00000541676.1_Missense_Mutation_p.S265L	NM_005679.3	NP_005670.3	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	358					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						GACGGCTCCCGAGCGGCTGCA	0.657													9	24					0	0	1	0	0	A	84215231	G	A	84215231	3	1	234	1	0	0	0	0	1	0	0	0	15578	1059	37	1	1560	1	TAF1C	16	84215231	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	110879	84215231	6139522	510	11256											
ANKRD11	29123	broad.mit.edu	37	chr16	89337296	89337296	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgggcgttgaaacggtcgcGcactgacttgttctcgtcac	6	10	13	12	6	2	2	1	2	1	0	4	2	2	2	0	2	1	3	0	2	1	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:89337296G>A	ENST00000301030.4	-	12	8195	c.7735C>T	c.(7735-7737)Cgc>Tgc	p.R2579C	AC137932.1_ENST00000602042.1_3'UTR|ANKRD11_ENST00000378330.2_Missense_Mutation_p.R2579C	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2579						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		AAACGGTCGCGCACTGACTTG	0.597													6	26					0	0	1	0	0	A	89337296	G	A	89337296	3	1	234	1	0	0	0	0	1	0	0	0	635	1087	38	1	264	1	ANKRD11	16	89337296	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	5122065	89337296	1017457	511	11257											
ANKRD11	29123	broad.mit.edu	37	chr16	89349355	89349356	+	Frame_Shift_Ins	INS	-	-	T																															tgcttttcaaagactttctcINSttttttgtctctccccgcgt																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:89349355_89349356insT	ENST00000301030.4	-	9	4054_4055	c.3594_3595insA	c.(3592-3597)aaagaafs	p.E1199fs	ANKRD11_ENST00000378330.2_Frame_Shift_Ins_p.E1199fs	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1199	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		AAGACTTTCTCTTTTTTGTCTC	0.515													16	100	---	---	---	---						T	89349356	-	T	89349355	7	5	234	1	0	1	1	0	0	0	0	0	635	922	32	0	4416	0	ANKRD11	16	89349355	Frame_Shift_Ins	INS	-	TCGA-J9-A52C-01A-11D-A26M-08	12059	89349355	1005398	512	11258											
ANKRD11	29123	broad.mit.edu	37	chr16	89350061	89350061	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcgggcttggccctgccGtccctgcgctccttgcagct	1	11	11	18	3	0	0	0	0	0	0	4	0	3	0	5	2	4	4	5	2	0	2	rs139955323		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr16:89350061G>A	ENST00000301030.4	-	9	3349	c.2889C>T	c.(2887-2889)gaC>gaT	p.D963D	ANKRD11_ENST00000378330.2_Silent_p.D963D	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	963	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TGGCCCTGCCGTCCCTGCGCT	0.647													26	106					0	0	1	0	0	A	89350061	G	A	89350061	2	1	234	1	0	0	0	0	0	0	0	1	635	1136	40	1		1	ANKRD11	16	89350061	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	706	89350061	1004692	513	11259											
ABR	29	broad.mit.edu	37	chr17	915194	915194	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacctcctccacacactgccGgacgatgtagggcaccttgg	8	7	10	16	2	0	0	0	0	0	0	2	2	2	1	5	3	1	2	5	3	1	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:915194G>A	ENST00000544583.2	-	19	2454	c.1855C>T	c.(1855-1857)Cgg>Tgg	p.R619W	ABR_ENST00000536794.2_Missense_Mutation_p.R447W|ABR_ENST00000543210.2_Missense_Mutation_p.R116W|ABR_ENST00000302538.5_Missense_Mutation_p.R665W|ABR_ENST00000291107.2_Missense_Mutation_p.R628W|ABR_ENST00000572441.1_Missense_Mutation_p.R116W|ABR_ENST00000574437.1_Missense_Mutation_p.R619W	NM_001159746.2	NP_001153218.1	Q12979	ABR_HUMAN	active BCR-related	665					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		ACACACTGCCGGACGATGTAG	0.652													12	87					0	0	1	0	0	A	915194	G	A	915194	3	1	234	1	0	0	0	0	1	0	0	0	99	1115	39	1	606	1	ABR	17	915194	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08		915194	80280016	514	11260											
CHRNE	1145	broad.mit.edu	37	chr17	4805274	4805274	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgaaggggaagtaggtgacCtccactgcgcagacgctgcg	9	6	15	11	4	0	2	0	1	0	1	2	4	1	3	2	3	2	3	2	3	3	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:4805274C>A	ENST00000293780.4	-	5	463	c.453G>T	c.(451-453)gaG>gaT	p.E151D	CHRNE_ENST00000575637.1_5'UTR|C17orf107_ENST00000381365.3_3'UTR	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN	cholinergic receptor, nicotinic, epsilon (muscle)	151					muscle contraction|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12						AGTAGGTGACCTCCACTGCGC	0.617													16	62					1.5739e-10	1.61613e-10	1	1	0	A	4805274	C	A	4805274	3	1	234	1	0	0	0	0	1	0	0	0	3417	680	24	4	1060	4	CHRNE	17	4805274	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	3890080	4805274	76389936	515	11261											
USP6	9098	broad.mit.edu	37	chr17	5041502	5041502	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccatgaacgatgacaccGtgctcaagcatcttagggcc	10	7	12	12	2	2	2	1	2	1	0	2	3	2	2	3	2	3	2	3	2	3	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:5041502G>A	ENST00000574788.1	+	21	3242	c.1012G>A	c.(1012-1014)Gtg>Atg	p.V338M	USP6_ENST00000304328.5_5'UTR|USP6_ENST00000250066.6_Missense_Mutation_p.V338M|USP6_ENST00000332776.4_Missense_Mutation_p.V338M			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	338					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.V338M(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CGATGACACCGTGCTCAAGCA	0.582			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts								30	131					0	0	1	0	0	A	5041502	G	A	5041502	3	1	234	1	0	0	0	0	1	0	0	0	17146	1145	40	1	1058	1	USP6	17	5041502	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	236228	5041502	76153708	516	11262											
C17orf74	201243	broad.mit.edu	37	chr17	7329864	7329864	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggacccggattcctaccTggaggaggaggacaacctgc	10	5	15	11	1	0	0	0	0	0	0	1	7	1	7	4	7	3	0	4	7	2	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:7329864T>C	ENST00000333870.3	+	3	628	c.554T>C	c.(553-555)cTg>cCg	p.L185P	RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_Silent_p.P72P	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	185						integral to membrane				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				GATTCCTACCTGGAGGAGGAG	0.587													16	99					0	0	1	0	0	C	7329864	T	C	7329864	3	2	234	1	0	0	0	0	1	0	0	0	1889	1580	55	3	564	3	C17orf74	17	7329864	Missense_Mutation	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	2288362	7329864	73865346	517	11263											
POLR2A	5430	broad.mit.edu	37	chr17	7405400	7405400	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccacgccatggggggtcGtgaggggctcattgacacgg	6	9	16	10	3	1	2	1	2	0	0	3	2	2	2	2	6	0	1	2	6	0	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:7405400G>A	ENST00000322644.6	+	15	2930	c.2531G>A	c.(2530-2532)cGt>cAt	p.R844H		NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	844	Bridging helix.				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				ATGGGGGGTCGTGAGGGGCTC	0.582													4	23					0	0	1	0	0	A	7405400	G	A	7405400	3	1	234	1	0	0	0	0	1	0	0	0	12262	1145	40	1	2589	1	POLR2A	17	7405400	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	75536	7405400	73789810	518	11264											
EFNB3	1949	broad.mit.edu	37	chr17	7612511	7612511	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccagcaatgcaacctccCggggtgctgaaggccccctg	8	5	11	17	1	0	1	0	1	0	0	1	1	1	1	6	3	4	3	6	3	3	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:7612511C>T	ENST00000226091.2	+	5	1037	c.640C>T	c.(640-642)Cgg>Tgg	p.R214W		NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN	ephrin-B3	214					cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				TGCAACCTCCCGGGGTGCTGA	0.701													19	83					0	0	1	0	0	T	7612511	C	T	7612511	3	4	234	1	0	0	0	0	1	0	0	0	4983	643	23	1	658	1	EFNB3	17	7612511	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	207111	7612511	73582699	519	11265											
AURKB	9212	broad.mit.edu	37	chr17	8108653	8108653	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccttctcattgtgcatgcGcccctcaatcatctctgggg	6	12	8	15	1	4	0	3	0	2	0	6	0	4	0	3	2	2	1	3	2	1	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:8108653G>A	ENST00000316199.6	-	8	822	c.745C>T	c.(745-747)Cgc>Tgc	p.R249C	AURKB_ENST00000585124.1_Missense_Mutation_p.R248C|AURKB_ENST00000578549.1_Missense_Mutation_p.R216C|AURKB_ENST00000535053.1_3'UTR|AURKB_ENST00000534871.1_Missense_Mutation_p.R207C			Q96GD4	AURKB_HUMAN	aurora kinase B	248	Protein kinase.			MH -> ID (in Ref. 3; BAA82709).	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|mitotic prometaphase|protein localization to kinetochore	chromosome passenger complex|condensed nuclear chromosome, centromeric region|cytosol|spindle	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|lung(2)	4						TTGTGCATGCGCCCCTCAATC	0.567													18	72					0	0	1	0	0	A	8108653	G	A	8108653	3	1	234	1	0	0	0	0	1	0	0	0	1221	1087	38	1	300	1	AURKB	17	8108653	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	496142	8108653	73086557	520	11266											
MYH4	4622	broad.mit.edu	37	chr17	10360835	10360835	+	Frame_Shift_Del	DEL	T	T	-																															tctcattcagggggtccttgTttttgtccagccagccggcg																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:10360835delT	ENST00000255381.2	-	16	1909	c.1799delA	c.(1798-1800)acfs	p.N600fs	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	600	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GGGGTCCTTGTTTTTGTCCAG	0.562													11	68	---	---	---	---						-	10360835	T	-	10360835	7	5	234	1	0	1	0	1	0	0	0	0	10085	1725	60	0	4120	0	MYH4	17	10360835	Frame_Shift_Del	DEL	T	TCGA-J9-A52C-01A-11D-A26M-08	2252182	10360835	70834375	521	11267											
TBC1D26	353149	broad.mit.edu	37	chr17	15641312	15641313	+	Splice_Site	DEL	AA	AA	-																															atcatggctcatttgacagcAaagacgcaaggaaagtaaac																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:15641312_15641313delAA	ENST00000437605.2	+	6	450_451	c.198_splice	c.e6-1	p.Q67_splice	TBC1D26_ENST00000579428.1_Splice_Site_p.Q67_splice|ZNF286A_ENST00000413242.2_3'UTR|AC005324.6_ENST00000434017.1_RNA	NM_178571.4	NP_848666.2	Q86UD7	TBC26_HUMAN	TBC1 domain family, member 26	67						intracellular	Rab GTPase activator activity			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.078)		ATTTGACAGCAAAGACGCAAGG	0.54													9	48	---	---	---	---						-	15641313	AA	-	15641312	8	5	234	1	0	1	0	1	0	0	1	0	15673	144	5	0	214	0	TBC1D26	17	15641312	Splice_Site	DEL	AA	TCGA-J9-A52C-01A-11D-A26M-08	5280477	15641312	65553898	522	11268											
NCOR1	9611	broad.mit.edu	37	chr17	15973813	15973815	+	In_Frame_Del	DEL	GTT	GTT	-																															ttgatggcagattgacctgaGttgttgtcaaactttattgg																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:15973813_15973815delGTT	ENST00000268712.3	-	31	4434_4436	c.4177_4179delAAC	c.(4177-4179)del	p.N1393del	NCOR1_ENST00000395851.1_In_Frame_Del_p.N1409del|NCOR1_ENST00000395857.3_5'UTR	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1393	Interaction with ETO.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		ATTGACCTGAGTTGTTGTCAAAC	0.448													12	52	---	---	---	---						-	15973815	GTT	-	15973813	7	5	234	1	0	1	0	1	0	0	0	0	10282	1020	36	0	3207	0	NCOR1	17	15973813	In_Frame_Del	DEL	GTT	TCGA-J9-A52C-01A-11D-A26M-08	332501	15973813	65221397	523	11269											
RAI1	10743	broad.mit.edu	37	chr17	17699169	17699169	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggattccaccacctcggaCgcctctctggcccagaagcc	7	6	11	17	2	1	1	0	0	1	1	4	3	2	3	6	4	1	0	6	4	1	1	rs141757356	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:17699169C>T	ENST00000353383.1	+	3	3376	c.2907C>T	c.(2905-2907)gaC>gaT	p.D969D	RAI1_ENST00000261641.6_Silent_p.D969D	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	969						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CCACCTCGGACGCCTCTCTGG	0.622													9	35					0	0	1	0	0	T	17699169	C	T	17699169	2	4	234	1	0	0	0	0	0	0	0	1	13059	535	19	1		1	RAI1	17	17699169	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	1725356	17699169	63496041	524	11270											
SHMT1	6470	broad.mit.edu	37	chr17	18232643	18232643	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctttttccaaaagtccacGggacgtcagtgctggggtcc	7	11	12	11	2	2	0	1	0	1	0	5	1	5	1	3	3	1	1	3	3	2	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:18232643G>A	ENST00000316694.3	-	11	1365	c.1231C>T	c.(1231-1233)Cgt>Tgt	p.R411C	SHMT1_ENST00000539052.1_Missense_Mutation_p.R273C|SHMT1_ENST00000352886.6_Missense_Mutation_p.R331C|SHMT1_ENST00000354098.3_Missense_Mutation_p.R372C	NM_004169.3	NP_004160.3	P34896	GLYC_HUMAN	serine hydroxymethyltransferase 1 (soluble)	411					carnitine biosynthetic process|folic acid metabolic process|L-serine catabolic process|one-carbon metabolic process|purine base biosynthetic process	cytosol|nucleus	glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13					Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	AAAAGTCCACGGGACGTCAGT	0.483													3	17					0	0	1	0	0	A	18232643	G	A	18232643	3	1	234	1	0	0	0	0	1	0	0	0	14340	1116	39	1	228	1	SHMT1	17	18232643	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	533474	18232643	62962567	525	11271											
TRIM16L	147166	broad.mit.edu	37	chr17	18638608	18638608	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggatcctttccttctatggCgtagagtatgattccatgac	8	14	10	9	1	1	3	0	2	1	1	4	4	4	4	3	2	0	2	3	2	3	6			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:18638608C>T	ENST00000449552.2	+	7	2366	c.882C>T	c.(880-882)ggC>ggT	p.G294G	TRIM16L_ENST00000572555.1_Silent_p.G294G|TRIM16L_ENST00000395902.3_Silent_p.G348G|TRIM16L_ENST00000395671.4_Silent_p.G294G|TRIM16L_ENST00000414850.2_3'UTR|TRIM16L_ENST00000571708.1_Silent_p.G294G|TRIM16L_ENST00000395672.2_Silent_p.G294G			Q309B1	TR16L_HUMAN	tripartite motif containing 16-like	294	B30.2/SPRY.					cytoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	9						CCTTCTATGGCGTAGAGTATG	0.512													12	43					0	0	1	0	0	T	18638608	C	T	18638608	2	4	234	1	0	0	0	0	0	0	0	1	16553	755	27	1		1	TRIM16L	17	18638608	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	405965	18638608	62556602	526	11272											
SSH2	85464	broad.mit.edu	37	chr17	27999103	27999103	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcctgggtagtagttatgcGctctggcgacttcacaagcc	7	11	12	11	2	2	0	1	0	1	0	2	1	2	0	2	2	3	4	2	2	4	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:27999103G>A	ENST00000269033.3	-	8	729	c.578C>T	c.(577-579)gCg>gTg	p.A193V	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.A220V	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	193					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTAGTTATGCGCTCTGGCGAC	0.468													10	33					0	0	1	0	0	A	27999103	G	A	27999103	3	1	234	1	0	0	0	0	1	0	0	0	15241	1087	38	1	3725	1	SSH2	17	27999103	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	9360495	27999103	53196107	527	11273											
RHBDL3	162494	broad.mit.edu	37	chr17	30625115	30625115	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctctctgtcacaggataGaacacctgggactcaatgtg	10	10	11	10	0	4	1	2	0	2	1	5	3	4	3	1	3	1	0	1	3	3	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:30625115G>T	ENST00000269051.4	+	6	687	c.673G>T	c.(673-675)Gaa>Taa	p.E225*	RHBDL3_ENST00000536287.1_Nonsense_Mutation_p.E127*|RHBDL3_ENST00000538145.1_Nonsense_Mutation_p.E217*	NM_138328.2	NP_612201.1	P58872	RHBL3_HUMAN	rhomboid, veinlet-like 3 (Drosophila)	225					proteolysis	integral to membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16		Breast(31;0.116)|Ovarian(249;0.182)				TCACAGGATAGAACACCTGGG	0.522													12	80					7.03913e-09	7.20767e-09	1	1	0	T	30625115	G	T	30625115	4	4	234	1	0	0	0	0	0	1	0	0	13373	943	33	4	695	4	RHBDL3	17	30625115	Nonsense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	2626012	30625115	50570095	528	11274											
TMEM132E	124842	broad.mit.edu	37	chr17	32964315	32964315	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgagcatgtggccactgtGacccaggaccgggccttccc	7	7	13	14	1	0	2	0	2	0	0	1	4	1	3	5	3	1	1	5	3	0	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:32964315G>A	ENST00000321639.5	+	10	2347	c.2019G>A	c.(2017-2019)gtG>gtA	p.V673V		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	673						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		TGGCCACTGTGACCCAGGACC	0.617													23	128					0	0	1	0	0	A	32964315	G	A	32964315	2	1	234	1	0	0	0	0	0	0	0	1	16108	1277	45	2		2	TMEM132E	17	32964315	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	2339200	32964315	48230895	529	11275											
TAF15	8148	broad.mit.edu	37	chr17	34171788	34171788	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccgaggtggaggctatggTggagaccgaggaggctatgg	9	6	20	6	2	0	1	0	0	0	1	0	7	0	3	2	8	0	2	2	8	2	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:34171788T>C	ENST00000588240.1	+	15	1600	c.1485T>C	c.(1483-1485)ggT>ggC	p.G495G	TAF15_ENST00000311979.3_Silent_p.G492G|TAF15_ENST00000592237.1_Intron	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q92804	RBP56_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	495	21 X approximate tandem repeats of D-R- [S,G](0,3)-G-G-Y-G-G.|Arg/Gly-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		gaggctatggtggagaccgag	0.602			T	"TEC, CHN1, ZNF384"	"extraskeletal myxoid chondrosarcomas, ALL"								4	19					0	0	1	0	0	C	34171788	T	C	34171788	2	2	234	1	0	0	0	0	0	0	0	1	15575	1683	59	3		3	TAF15	17	34171788	Silent	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	1207473	34171788	47023422	530	11276											
AATF	26574	broad.mit.edu	37	chr17	35345870	35345870	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagaagagaagaagcagcaaCgaagaagggtccctgcaaag	18	3	13	7	1	0	4	0	0	0	4	1	6	1	4	1	1	4	3	1	1	8	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:35345870C>T	ENST00000225402.5	+	6	1251	c.1000C>T	c.(1000-1002)Cga>Tga	p.R334*		NM_012138.3	NP_036270.1	Q9NY61	AATF_HUMAN	apoptosis antagonizing transcription factor	334	RB1 binding.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus	centrosome|focal adhesion|nucleolus	leucine zipper domain binding|sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)	18		Breast(25;0.00607)				GAAGCAGCAACGAAGAAGGGT	0.448													4	37					0	0	1	0	0	T	35345870	C	T	35345870	4	4	234	1	0	0	0	0	0	1	0	0	25	528	19	1	1022	1	AATF	17	35345870	Nonsense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	1174082	35345870	45849340	531	11277											
MLLT6	4302	broad.mit.edu	37	chr17	36880921	36880921	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccagcagatccagcagaaaCgggagctgcagcgcctgcag	11	4	13	13	2	0	2	0	0	0	2	2	3	2	3	3	1	7	5	3	1	1	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:36880921C>T	ENST00000325718.7	+	19	3023	c.2932C>T	c.(2932-2934)Cgg>Tgg	p.R978W		NM_005937.3	NP_005928.2	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	978	Gln-rich.				regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					CCAGCAGAAACGGGAGCTGCA	0.652			T	MLL	AL								3	27					0	0	1	0	0	T	36880921	C	T	36880921	3	4	234	1	0	0	0	0	1	0	0	0	9678	527	19	1	3006	1	MLLT6	17	36880921	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	1535051	36880921	44314289	532	11278											
PCGF2	7703	broad.mit.edu	37	chr17	36895857	36895857	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgatgctcagcagcggcCgggttttatggacctgcacg	7	9	13	12	3	1	1	1	1	0	0	1	2	1	2	3	3	4	4	3	3	1	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:36895857C>T	ENST00000580830.1	-	5	892	c.191G>A	c.(190-192)cGg>cAg	p.R64Q	PCGF2_ENST00000579882.1_Missense_Mutation_p.R64Q|PCGF2_ENST00000578109.1_Missense_Mutation_p.R10Q|PCGF2_ENST00000360797.2_Missense_Mutation_p.R64Q|PCGF2_ENST00000585100.1_Missense_Mutation_p.R64Q|PCGF2_ENST00000581345.1_Missense_Mutation_p.R64Q			P35227	PCGF2_HUMAN	polycomb group ring finger 2	64					negative regulation of transcription from RNA polymerase II promoter	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10	Breast(7;9.07e-22)					CAGCAGCGGCCGGGTTTTATG	0.612													13	84					0	0	1	0	0	T	36895857	C	T	36895857	3	4	234	1	0	0	0	0	1	0	0	0	11622	652	23	1	875	1	PCGF2	17	36895857	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	14936	36895857	44299353	533	11279											
MED1	5469	broad.mit.edu	37	chr17	37564024	37564024	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggaagtggtcggataccatCgtctgagctgggactattct	8	12	13	8	2	2	1	0	1	2	0	4	4	2	4	1	4	2	1	1	4	3	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:37564024C>T	ENST00000300651.6	-	17	4673	c.4450G>A	c.(4450-4452)Gat>Aat	p.D1484N	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	1484					androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		CGGATACCATCGTCTGAGCTG	0.448										HNSCC(31;0.082)			7	31					0	0	1	0	0	T	37564024	C	T	37564024	3	4	234	1	0	0	0	0	1	0	0	0	9475	884	31	1	299	1	MED1	17	37564024	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	668167	37564024	43631186	534	11280											
THRA	7067	broad.mit.edu	37	chr17	38249345	38249345	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgggcgggtcactgggcGtccacccggaaggacagcag	7	3	18	13	4	1	0	1	0	0	0	2	2	2	2	3	6	1	1	3	6	1	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:38249345G>A	ENST00000264637.4	+	10	1763	c.1183G>A	c.(1183-1185)Gtc>Atc	p.V395I	THRA_ENST00000584985.1_Intron|NR1D1_ENST00000246672.3_Silent_p.D612D|THRA_ENST00000394121.4_Missense_Mutation_p.V395I	NM_003250.5	NP_003241.2	P10827	THA_HUMAN	thyroid hormone receptor, alpha	395					negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Levothyroxine(DB00451)|Liothyronine(DB00279)	GTCACTGGGCGTCCACCCGGA	0.592													5	56					0	0	1	0	0	A	38249345	G	A	38249345	3	1	234	1	0	0	0	0	1	0	0	0	15933	1145	40	1	1340	1	THRA	17	38249345	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	685321	38249345	42945865	535	11281											
TOP2A	7153	broad.mit.edu	37	chr17	38557133	38557133	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttcttctccatccatcaaaCgcctgatgttatttacaatt	10	16	4	11	1	3	1	1	1	2	0	5	1	4	1	3	0	2	2	3	0	4	6			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:38557133C>T	ENST00000423485.1	-	21	2791	c.2633G>A	c.(2632-2634)cGt>cAt	p.R878H		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	878					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	ATCCATCAAACGCCTGATGTT	0.408													34	154					0	0	1	0	0	T	38557133	C	T	38557133	3	4	234	1	0	0	0	0	1	0	0	0	16426	536	19	1	2022	1	TOP2A	17	38557133	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	307788	38557133	42638077	536	11282											
CCR7	1236	broad.mit.edu	37	chr17	38711044	38711044	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccacactcatggaggagcGccggatgtgccgacaggaag	10	5	14	12	3	1	0	1	0	0	0	2	5	2	4	3	4	2	0	3	4	1	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:38711044G>A	ENST00000246657.2	-	3	1149	c.1087C>T	c.(1087-1089)Cgc>Tgc	p.R363C	CCR7_ENST00000579344.1_Missense_Mutation_p.R357C	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7	363					cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding			breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				ATGGAGGAGCGCCGGATGTGC	0.632													16	70					0	0	1	0	0	A	38711044	G	A	38711044	3	1	234	1	0	0	0	0	1	0	0	0	2968	1087	38	1	53	1	CCR7	17	38711044	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	153911	38711044	42484166	537	11283											
STAT3	6774	broad.mit.edu	37	chr17	40474485	40474485	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagctgctgctttgtgtatGgttccacggactggatctgg	5	14	13	9	1	2	0	1	0	1	0	3	2	3	2	1	4	3	5	1	4	1	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:40474485G>A	ENST00000264657.5	-	21	2228	c.1916C>T	c.(1915-1917)cCa>cTa	p.P639L	STAT3_ENST00000588969.1_Missense_Mutation_p.P639L|STAT3_ENST00000585517.1_Missense_Mutation_p.P639L|STAT3_ENST00000404395.3_Missense_Mutation_p.P639L|STAT3_ENST00000389272.3_Missense_Mutation_p.P541L	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	639	SH2.				cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		CTTTGTGTATGGTTCCACGGA	0.453									Hyperimmunoglobulin E Recurrent Infection Syndrome				18	82					0	0	1	0	0	A	40474485	G	A	40474485	3	1	234	1	0	0	0	0	1	0	0	0	15322	1348	47	2	412	2	STAT3	17	40474485	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1763441	40474485	40720725	538	11284											
ANKFN1	162282	broad.mit.edu	37	chr17	54428180	54428181	+	Frame_Shift_Ins	INS	-	-	A																															aatttacatctctgtcagtcINSaaaaaaacatagtgctccct																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:54428180_54428181insA	ENST00000566473.2	+	4	251_252	c.251_252insA	c.(250-252)taafs	p.*84fs	ANKFN1_ENST00000318698.2_Frame_Shift_Ins_p.*84fs			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	84										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						CTCTGTCAGTCAAAAAAACATA	0.426													13	62	---	---	---	---						A	54428181	-	A	54428180	7	5	234	1	0	1	1	0	0	0	0	0	621	838	29	0	265	0	ANKFN1	17	54428180	Frame_Shift_Ins	INS	-	TCGA-J9-A52C-01A-11D-A26M-08	13953695	54428180	26767030	539	11285											
TEX14	56155	broad.mit.edu	37	chr17	56688555	56688555	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actccaggttggtcagcctcGcttcacctggggagatgata	8	10	12	11	1	2	2	2	1	0	1	4	3	3	2	3	4	1	2	3	4	1	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:56688555G>A	ENST00000389934.3	-	10	1268	c.1151C>T	c.(1150-1152)gCg>gTg	p.A384V	TEX14_ENST00000349033.5_Missense_Mutation_p.A384V|TEX14_ENST00000240361.8_Missense_Mutation_p.A390V	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	390	Protein kinase.					cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGTCAGCCTCGCTTCACCTGG	0.522													23	116					0	0	1	0	0	A	56688555	G	A	56688555	3	1	234	1	0	0	0	0	1	0	0	0	15837	1087	38	1	3420	1	TEX14	17	56688555	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	2260375	56688555	24506655	540	11286											
PPM1D	8493	broad.mit.edu	37	chr17	58700883	58700883	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attttatttcttattacagcGgaatggccaaagactatgac	13	14	7	7	1	1	2	0	1	1	1	1	3	1	3	1	2	2	0	1	2	6	6			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:58700883G>A	ENST00000305921.3	+	2	706	c.472_splice	c.e2-1	p.A158_splice		NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	158	PP2C-like.				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			TTATTACAGCGGAATGGCCAA	0.403													22	126					0	0	1	0	0	A	58700883	G	A	58700883	5	1	234	1	0	0	0	0	0	0	1	0	12386	1130	39	1	480	1	PPM1D	17	58700883	Splice_Site	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	2012328	58700883	22494327	541	11287											
TBX4	9496	broad.mit.edu	37	chr17	59560564	59560565	+	Frame_Shift_Ins	INS	-	-	C																															actgtgccgtaccagcccttINSccccacgcacttcaccgcca																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:59560564_59560565insC	ENST00000393853.4	+	9	1491_1492	c.1328_1329insC	c.(1327-1329)tccfs	p.S443fs	TBX4_ENST00000589449.1_3'UTR|TBX4_ENST00000240335.1_Frame_Shift_Ins_p.S442fs			P57082	TBX4_HUMAN	T-box 4	442					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						TACCAGCCCTTCCCCACGCACT	0.609													13	102	---	---	---	---						C	59560565	-	C	59560564	7	5	234	1	0	1	1	0	0	0	0	0	15720	1783	62	0	1355	0	TBX4	17	59560564	Frame_Shift_Ins	INS	-	TCGA-J9-A52C-01A-11D-A26M-08	859681	59560564	21634646	542	11288											
RGS9	8787	broad.mit.edu	37	chr17	63206629	63206629	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccctcccttttatgcggcGtcacctgcgctccagcccaa	6	9	7	19	3	1	0	1	0	0	0	3	0	3	0	5	1	3	1	5	1	2	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:63206629G>A	ENST00000449996.3	+	17	1376	c.1304G>A	c.(1303-1305)cGt>cAt	p.R435H	RGS9_ENST00000443584.3_Missense_Mutation_p.R435H|RGS9_ENST00000262406.9_Missense_Mutation_p.R438H	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	438					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						TTTATGCGGCGTCACCTGCGC	0.572													14	103					0	0	1	0	0	A	63206629	G	A	63206629	3	1	234	1	0	0	0	0	1	0	0	0	13363	1145	40	1	1379	1	RGS9	17	63206629	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	3646065	63206629	17988581	543	11289											
PRKCA	5578	broad.mit.edu	37	chr17	64637512	64637512	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agttcaaaatccacacttacGgaagccccaccttctgcgat	12	9	6	14	2	2	0	1	0	1	0	3	2	3	1	4	1	3	1	4	1	4	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:64637512G>A	ENST00000413366.3	+	4	354	c.328G>A	c.(328-330)Gga>Aga	p.G110R		NM_002737.2	NP_002728.1	P17252	KPCA_HUMAN	protein kinase C, alpha	110					activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	CCACACTTACGGAAGCCCCAC	0.438													18	105					0	0	1	0	0	A	64637512	G	A	64637512	3	1	234	1	0	0	0	0	1	0	0	0	12559	1117	39	1	342	1	PRKCA	17	64637512	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1430883	64637512	16557698	544	11290											
PRKAR1A	5573	broad.mit.edu	37	chr17	66526538	66526538	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttggcccatgctcagacaTcctcaaacgaaacatccagc	12	8	6	15	1	3	1	2	0	1	1	5	2	5	1	3	1	4	1	3	1	2	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:66526538T>G	ENST00000589228.1	+	11	1222	c.1094T>G	c.(1093-1095)aTc>aGc	p.I365S	PRKAR1A_ENST00000358598.2_Missense_Mutation_p.I365S|PRKAR1A_ENST00000586397.1_Missense_Mutation_p.I365S|PRKAR1A_ENST00000536854.2_Missense_Mutation_p.I365S|PRKAR1A_ENST00000392711.1_Missense_Mutation_p.I365S|PRKAR1A_ENST00000588188.2_Intron	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha	365					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding			adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					TGCTCAGACATCCTCAAACGA	0.512			"T, Mis, N, F, S"	RET	papillary thyroid	"myxoma, endocrine, papillary thyroid"			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of				15	63					0	0	1	0	0	G	66526538	T	G	66526538	3	3	234	1	0	0	0	0	1	0	0	0	12555	1435	50	5	1132	5	PRKAR1A	17	66526538	Missense_Mutation	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	1889026	66526538	14668672	545	11291											
CASKIN2	57513	broad.mit.edu	37	chr17	73497583	73497583	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtgccaatgctcttctctgCggctctcagtgcagctgcca	5	11	11	14	1	3	0	1	0	3	0	5	0	3	0	2	2	6	4	2	2	1	1	rs140270094	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:73497583C>T	ENST00000321617.3	-	19	4070	c.3484G>A	c.(3484-3486)Gca>Aca	p.A1162T	CASKIN2_ENST00000433559.2_Missense_Mutation_p.A1080T	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	1162						cytoplasm		p.L1159_A1162del(1)		endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTCTTCTCTGCGGCTCTCAGT	0.657													32	145					0	0	1	0	0	T	73497583	C	T	73497583	3	4	234	1	0	0	0	0	1	0	0	0	2685	768	27	1	132	1	CASKIN2	17	73497583	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	6971045	73497583	7697627	546	11292											
LLGL2	3993	broad.mit.edu	37	chr17	73559543	73559543	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccgcagcctcgtgccttaCggtcagtgtttcacccgccg	4	10	10	17	5	2	0	2	0	0	0	4	0	3	0	5	1	3	2	5	1	1	2	rs141041567	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:73559543C>T	ENST00000392550.3	+	8	942	c.826_splice	c.e8+1	p.Y275_splice	LLGL2_ENST00000375227.4_Splice_Site_p.Y275_splice|LLGL2_ENST00000167462.5_Splice_Site_p.Y275_splice|LLGL2_ENST00000578363.1_Splice_Site_p.Y275_splice|LLGL2_ENST00000577200.1_Splice_Site_p.Y275_splice	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	275					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			TCGTGCCTTACGGTCAGTGTT	0.647													10	44					0	0	1	0	0	T	73559543	C	T	73559543	5	4	234	1	0	0	0	0	0	0	1	0	8875	550	19	1	851	1	LLGL2	17	73559543	Splice_Site	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	61960	73559543	7635667	547	11293											
UBE2O	63893	broad.mit.edu	37	chr17	74392306	74392306	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggcacagcaccggggtttcGctgggccactcagccttcac	6	8	12	15	2	2	0	2	0	0	0	3	0	2	0	3	4	2	4	3	4	0	2	rs139988070	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:74392306G>A	ENST00000319380.7	-	14	2776	c.2712C>T	c.(2710-2712)agC>agT	p.S904S		NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	904							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						CCGGGGTTTCGCTGGGCCACT	0.627													15	80					0	0	1	0	0	A	74392306	G	A	74392306	2	1	234	1	0	0	0	0	0	0	0	1	16929	1078	38	1		1	UBE2O	17	74392306	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	832763	74392306	6802904	548	11294											
SEC14L1	6397	broad.mit.edu	37	chr17	75199713	75199713	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accaaaggcttggtgagagcGctcggggaggaagccctgct	9	6	16	10	2	0	1	0	1	0	1	1	4	0	3	2	5	3	3	2	5	2	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:75199713G>A	ENST00000413679.2	+	10	1374	c.1071G>A	c.(1069-1071)gcG>gcA	p.A357A	SEC14L1_ENST00000392476.2_Silent_p.A357A|SEC14L1_ENST00000430767.4_Silent_p.A357A|SEC14L1_ENST00000585618.1_Silent_p.A357A|SEC14L1_ENST00000436233.4_Silent_p.A357A|SEC14L1_ENST00000431431.2_Silent_p.A323A|SEC14L1_ENST00000591437.1_Silent_p.A323A|SEC14L1_ENST00000443798.4_Silent_p.A357A	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470.1|NP_001137471.1|NP_002994.3	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	357	CRAL-TRIO.				transport	Golgi apparatus|integral to membrane	binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						TGGTGAGAGCGCTCGGGGAGG	0.602													4	21					0	0	1	0	0	A	75199713	G	A	75199713	2	1	234	1	0	0	0	0	0	0	0	1	14035	1074	38	1		1	SEC14L1	17	75199713	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	807407	75199713	5995497	549	11295											
TNRC6C	57690	broad.mit.edu	37	chr17	76045218	76045218	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaataatggcaccaatggCgcactcgtccaaagcccttc	11	7	9	14	2	0	0	0	0	0	0	3	0	1	0	3	3	1	3	3	3	4	2	rs138478334	by1000genomes	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:76045218C>T	ENST00000335749.4	+	3	644	c.75C>T	c.(73-75)ggC>ggT	p.G25G	TNRC6C_ENST00000588061.1_Silent_p.G25G|TNRC6C_ENST00000588847.1_Silent_p.G25G|TNRC6C_ENST00000544502.1_Silent_p.G25G|TNRC6C_ENST00000301624.4_Silent_p.G25G|TNRC6C_ENST00000541771.1_Silent_p.G25G	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	25	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GCACCAATGGCGCACTCGTCC	0.552													7	26					0	0	1	0	0	T	76045218	C	T	76045218	2	4	234	1	0	0	0	0	0	0	0	1	16402	755	27	1		1	TNRC6C	17	76045218	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	845505	76045218	5149992	550	11296											
DNAH17	8632	broad.mit.edu	37	chr17	76510888	76510888	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgagctgctgccagtggcGttcccgaatggcagggttct	6	10	14	11	2	1	1	0	1	1	0	2	2	2	1	2	3	3	5	2	3	1	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:76510888G>A	ENST00000389840.5	-	26	4193	c.4069C>T	c.(4069-4071)Cgc>Tgc	p.R1357C	DNAH17_ENST00000585328.1_Missense_Mutation_p.R1358C					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TGCCAGTGGCGTTCCCGAATG	0.652													11	37					0	0	1	0	0	A	76510888	G	A	76510888	3	1	234	1	0	0	0	0	1	0	0	0	4629	1145	40	1	9531	1	DNAH17	17	76510888	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	465670	76510888	4684322	551	11297											
RNF213	57674	broad.mit.edu	37	chr17	78320969	78320969	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacgaaacggtgtgtaagcGccaggacaaggaattcttcg	12	8	12	9	4	1	0	0	0	1	0	2	3	1	2	1	3	3	1	1	3	5	4	rs76918558		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:78320969G>A	ENST00000582970.1	+	29	8977	c.8834G>A	c.(8833-8835)cGc>cAc	p.R2945H	RNF213_ENST00000336301.6_Missense_Mutation_p.R1018H|RNF213_ENST00000508628.2_Missense_Mutation_p.R2994H	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GTGTGTAAGCGCCAGGACAAG	0.532													4	18					0	0	1	0	0	A	78320969	G	A	78320969	3	1	234	1	0	0	0	0	1	0	0	0	13529	1087	38	1	9263	1	RNF213	17	78320969	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1810081	78320969	2874241	552	11298											
RNF213	57674	broad.mit.edu	37	chr17	78357529	78357529	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctcatcagccaagataagcGtatcagctctaaccctgtgg	11	10	8	12	1	4	1	3	0	2	1	5	1	4	1	2	1	4	2	2	1	4	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:78357529G>A	ENST00000582970.1	+	59	14266	c.14123G>A	c.(14122-14124)cGt>cAt	p.R4708H	RNF213_ENST00000427003.3_3'UTR|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.R2781H|CTD-2047H16.4_ENST00000573394.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.R4757H	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CAAGATAAGCGTATCAGCTCT	0.438													13	56					0	0	1	0	0	A	78357529	G	A	78357529	3	1	234	1	0	0	0	0	1	0	0	0	13529	1145	40	1	14672	1	RNF213	17	78357529	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	36560	78357529	2837681	553	11299											
RNF213	57674	broad.mit.edu	37	chr17	78363706	78363706	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ataagtctgaacagctgctgCggctgcacaaagtaagtctg	12	9	11	9	1	2	1	0	1	2	0	2	1	2	1	0	1	5	5	0	1	4	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:78363706C>T	ENST00000582970.1	+	66	15417	c.15274C>T	c.(15274-15276)Cgg>Tgg	p.R5092W	RNF213_ENST00000427003.3_3'UTR|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.R3165W|CTD-2047H16.4_ENST00000573394.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.R5141W	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			ACAGCTGCTGCGGCTGCACAA	0.507													7	60					0	0	1	0	0	T	78363706	C	T	78363706	3	4	234	1	0	0	0	0	1	0	0	0	13529	759	27	1	15851	1	RNF213	17	78363706	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	6177	78363706	2831504	554	11300											
CCDC57	284001	broad.mit.edu	37	chr17	80121119	80121119	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaggtttaggagctgcactCtgtccccgagcttcctgagt	6	11	12	12	1	1	1	0	1	1	0	3	3	3	2	3	2	3	5	3	2	1	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr17:80121119C>T	ENST00000392347.1	-	13	2033	c.1997G>A	c.(1996-1998)aGa>aAa	p.R666K	CCDC57_ENST00000392343.3_Missense_Mutation_p.R666K|CCDC57_ENST00000327026.3_5'UTR|CCDC57_ENST00000389641.4_Missense_Mutation_p.R666K	NM_198082.2	NP_932348.2	Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	666										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			GAGCTGCACTCTGTCCCCGAG	0.597													33	152					0	0	1	0	0	T	80121119	C	T	80121119	3	4	234	1	0	0	0	0	1	0	0	0	2847	913	32	2	770	2	CCDC57	17	80121119	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	1757413	80121119	1074091	555	11301											
MYOM1	8736	broad.mit.edu	37	chr18	3215102	3215102	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgtaggccgtggagccctgGgtgtagacggcggagcgttt	5	9	18	9	4	0	1	0	0	0	1	0	3	0	3	2	5	2	3	2	5	2	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:3215102G>A	ENST00000356443.4	-	2	453	c.120C>T	c.(118-120)acC>acT	p.T40T	RP13-270P17.2_ENST00000580139.1_RNA|MYOM1_ENST00000261606.7_Silent_p.T40T|MYOM1_ENST00000400569.3_Silent_p.T40T	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	40						striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TGGAGCCCTGGGTGTAGACGG	0.677													14	40					0	0	1	0	0	A	3215102	G	A	3215102	2	1	234	1	0	0	0	0	0	0	0	1	10139	1219	43	2		2	MYOM1	18	3215102	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08		3215102	74862146	556	11302											
DLGAP1	9229	broad.mit.edu	37	chr18	3879678	3879678	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggccggggctgtcgctgcGgtgctccacggccgtgcgct	1	7	18	15	7	0	0	0	0	0	0	2	0	1	0	3	5	3	4	3	5	0	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:3879678G>A	ENST00000315677.3	-	4	986	c.391C>T	c.(391-393)Cgc>Tgc	p.R131C	DLGAP1_ENST00000581527.1_Missense_Mutation_p.R131C|DLGAP1_ENST00000515196.2_Missense_Mutation_p.R131C|DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000584874.1_Missense_Mutation_p.R131C	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	131					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CTGTCGCTGCGGTGCTCCACG	0.677													14	127					0	0	1	0	0	A	3879678	G	A	3879678	3	1	234	1	0	0	0	0	1	0	0	0	4587	1116	39	1	2637	1	DLGAP1	18	3879678	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	664576	3879678	74197570	557	11303											
LAMA1	284217	broad.mit.edu	37	chr18	6959468	6959468	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtacctcaatgttgcctccGatcagcatgacggaaaagaa	13	9	9	10	2	2	2	2	1	0	1	3	4	3	3	3	1	3	3	3	1	5	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:6959468G>A	ENST00000389658.3	-	54	7743	c.7650C>T	c.(7648-7650)atC>atT	p.I2550I		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2550	Laminin G-like 3.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGTTGCCTCCGATCAGCATGA	0.478													9	42					0	0	1	0	0	A	6959468	G	A	6959468	2	1	234	1	0	0	0	0	0	0	0	1	8644	1048	37	1		1	LAMA1	18	6959468	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	3079790	6959468	71117780	558	11304											
ZNF521	25925	broad.mit.edu	37	chr18	22806101	22806101	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atttcttcccattgtggataTaattcagggccaagggaatg	11	13	10	7	0	2	0	1	0	1	0	3	2	3	2	2	3	0	0	2	3	4	6			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:22806101T>A	ENST00000361524.3	-	4	1929	c.1781A>T	c.(1780-1782)tAt>tTt	p.Y594F	ZNF521_ENST00000584787.1_Missense_Mutation_p.Y374F|ZNF521_ENST00000538137.2_Missense_Mutation_p.Y594F	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	594					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					ATTGTGGATATAATTCAGGGC	0.428			T	PAX5	ALL								8	33					0	0	1	0	0	A	22806101	T	A	22806101	3	1	234	1	0	0	0	0	1	0	0	0	18022	1406	49	5	2174	5	ZNF521	18	22806101	Missense_Mutation	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	15846633	22806101	55271147	559	11305											
AQP4	361	broad.mit.edu	37	chr18	24442304	24442304	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccacagtcactgcagggtTgatgtggccaccgctgatat	8	9	13	11	1	1	2	1	2	0	0	1	2	1	2	3	3	1	3	3	3	1	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:24442304T>C	ENST00000383168.4	-	2	417	c.289A>G	c.(289-291)Aac>Gac	p.N97D	AQP4-AS1_ENST00000579964.1_RNA|AQP4_ENST00000581374.1_Missense_Mutation_p.N75D|AQP4-AS1_ENST00000582605.1_RNA|AQP4_ENST00000440832.3_Missense_Mutation_p.N75D	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4	97					cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity			kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					ACTGCAGGGTTGATGTGGCCA	0.552													19	72					0	0	1	0	0	C	24442304	T	C	24442304	3	2	234	1	0	0	0	0	1	0	0	0	825	1812	63	3	698	3	AQP4	18	24442304	Missense_Mutation	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	1636203	24442304	53634944	560	11306											
DSG2	1829	broad.mit.edu	37	chr18	29099850	29099850	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcctggatcaccgcccccGtggctcttcgggagggagag	5	6	16	14	4	2	1	1	0	1	1	3	4	2	3	4	4	0	1	4	4	0	1	rs121913013		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:29099850G>A	ENST00000261590.8	+	3	375	c.166G>A	c.(166-168)Gtg>Atg	p.V56M	DSG2_ENST00000585206.1_Missense_Mutation_p.V56M	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	56	Cadherin 1.		V -> M (associated with CMD1BB and ARVD10 although it may not be sufficient by itself to result in cardiomyopathy).		cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			CACCGCCCCCGTGGCTCTTCG	0.443													14	30					0	0	1	0	0	A	29099850	G	A	29099850	3	1	234	1	0	0	0	0	1	0	0	0	4803	1145	40	1	176	1	DSG2	18	29099850	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	4657546	29099850	48977398	561	11307											
FHOD3	80206	broad.mit.edu	37	chr18	34340709	34340709	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtggaggacgccacccccGcgctgggcgtccgcacacgc	5	3	14	19	7	0	0	0	0	0	0	1	2	1	2	5	3	0	2	5	3	0	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:34340709G>A	ENST00000257209.4	+	23	4161	c.4039G>A	c.(4039-4041)Gcg>Acg	p.A1347T	FHOD3_ENST00000590592.1_Missense_Mutation_p.A1530T|FHOD3_ENST00000359247.4_Missense_Mutation_p.A1330T|FHOD3_ENST00000592128.1_Missense_Mutation_p.A326T|FHOD3_ENST00000445677.1_Missense_Mutation_p.A1309T|FHOD3_ENST00000591635.1_Missense_Mutation_p.A543T	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1330					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CGCCACCCCCGCGCTGGGCGT	0.682													6	26					0	0	1	0	0	A	34340709	G	A	34340709	3	1	234	1	0	0	0	0	1	0	0	0	5916	1087	38	1	4129	1	FHOD3	18	34340709	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	5240859	34340709	43736539	562	11308											
TCEB3CL	728929	broad.mit.edu	37	chr18	44549172	44549172	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cattgtctttctctgtgcggTacggctgatcgggcgtccac	4	13	12	12	4	2	1	0	1	2	0	5	1	3	1	1	3	2	2	1	3	1	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:44549172T>C	ENST00000451265.1	-	1	1362	c.1127A>G	c.(1126-1128)tAc>tGc	p.Y376C	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron	NM_001100817.1	NP_001094287.1			transcription elongation factor B polypeptide 3C-like											central_nervous_system(1)|lung(1)|prostate(1)	3						CTCTGTGCGGTACGGCTGATC	0.577													19	354					0	0	1	0	0	C	44549172	T	C	44549172	3	2	234	1	0	0	0	0	1	0	0	0	15744	1638	57	3	2160	3	TCEB3CL	18	44549172	Missense_Mutation	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	10208463	44549172	33528076	563	11309											
CCDC11	220136	broad.mit.edu	37	chr18	47769458	47769458	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctgtgccaaatatttatggTatatcttctgttctcttatc	8	20	5	8	0	4	0	0	0	4	0	6	0	4	0	1	1	1	2	1	1	6	8			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:47769458T>C	ENST00000398545.4	-	6	1142	c.1025A>G	c.(1024-1026)tAc>tGc	p.Y342C		NM_145020.3	NP_659457.2	Q96M91	CCD11_HUMAN	coiled-coil domain containing 11	342										endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		ATATTTATGGTATATCTTCTG	0.308													6	32					0	0	1	0	0	C	47769458	T	C	47769458	3	2	234	1	0	0	0	0	1	0	0	0	2764	1638	57	3	531	3	CCDC11	18	47769458	Missense_Mutation	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	3220286	47769458	30307790	564	11310											
MBD1	4152	broad.mit.edu	37	chr18	47799780	47799780	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccactcgtcctgggtatccGccttctcttgcttcacctgg	3	14	8	16	2	2	0	1	0	1	0	7	0	5	0	5	2	1	2	5	2	1	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:47799780G>A	ENST00000591416.1	-	13	1939	c.1508C>T	c.(1507-1509)gCg>gTg	p.A503V	MBD1_ENST00000436910.1_Intron|MBD1_ENST00000585672.1_Missense_Mutation_p.A453V|MBD1_ENST00000590208.1_Missense_Mutation_p.A503V|MBD1_ENST00000585595.1_Missense_Mutation_p.A528V|MBD1_ENST00000424334.2_Missense_Mutation_p.A554V|MBD1_ENST00000398488.1_Intron|MBD1_ENST00000398493.1_Missense_Mutation_p.A447V|MBD1_ENST00000398495.2_Missense_Mutation_p.A472V|MBD1_ENST00000347968.3_Missense_Mutation_p.A447V|MBD1_ENST00000382948.5_Missense_Mutation_p.A503V|MBD1_ENST00000353909.3_Missense_Mutation_p.A454V|MBD1_ENST00000349085.2_Intron|MBD1_ENST00000591535.1_Intron|MBD1_ENST00000339998.6_Intron|MBD1_ENST00000269468.5_Missense_Mutation_p.A503V|MBD1_ENST00000269471.5_Intron|MBD1_ENST00000588937.1_Intron|MBD1_ENST00000587605.1_Intron|MBD1_ENST00000457839.2_Missense_Mutation_p.A528V			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	503					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						CTGGGTATCCGCCTTCTCTTG	0.602													11	50					0	0	1	0	0	A	47799780	G	A	47799780	3	1	234	1	0	0	0	0	1	0	0	0	9392	1087	38	1	519	1	MBD1	18	47799780	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	30322	47799780	30277468	565	11311											
CXXC1	30827	broad.mit.edu	37	chr18	47808995	47808995	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggagcgcaggtcggtagTgaggggatcgtgctggatcg	7	8	19	7	4	0	1	0	1	0	0	3	4	0	4	0	6	2	3	0	6	1	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:47808995T>C	ENST00000285106.6	-	15	2653	c.1939A>G	c.(1939-1941)Act>Gct	p.T647A	CXXC1_ENST00000412036.2_Missense_Mutation_p.T651A|CXXC1_ENST00000589940.1_3'UTR	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	647					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						AGGTCGGTAGTGAGGGGATCG	0.662													17	103					0	0	1	0	0	C	47808995	T	C	47808995	3	2	234	1	0	0	0	0	1	0	0	0	4120	1696	59	3	35	3	CXXC1	18	47808995	Missense_Mutation	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	9215	47808995	30268253	566	11312											
DCC	1630	broad.mit.edu	37	chr18	50994313	50994313	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgtccactctggagaggtcGctggctgcacgccgagcccc	6	7	13	15	3	1	1	0	0	1	1	3	3	2	1	4	3	2	3	4	3	0	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:50994313G>A	ENST00000442544.2	+	25	4285	c.3669G>A	c.(3667-3669)tcG>tcA	p.S1223S	DCC_ENST00000581580.1_Silent_p.S858S	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1223					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGGAGAGGTCGCTGGCTGCAC	0.522													16	61					0	0	1	0	0	A	50994313	G	A	50994313	2	1	234	1	0	0	0	0	0	0	0	1	4305	1074	38	1		1	DCC	18	50994313	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	3185318	50994313	27082935	567	11313											
DCC	1630	broad.mit.edu	37	chr18	51013172	51013172	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttttcttttgcagctgtcGtgagcgccatcccggtgcca	4	14	10	13	3	1	1	0	1	1	0	3	1	2	1	3	1	4	2	3	1	0	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:51013172G>A	ENST00000442544.2	+	26	4358	c.3742G>A	c.(3742-3744)Gtg>Atg	p.V1248M	RP11-671P2.1_ENST00000582064.1_RNA|DCC_ENST00000581580.1_Missense_Mutation_p.V883M	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1248					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.V1248M(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGCAGCTGTCGTGAGCGCCAT	0.488													15	55					0	0	1	0	0	A	51013172	G	A	51013172	3	1	234	1	0	0	0	0	1	0	0	0	4305	1145	40	1	3844	1	DCC	18	51013172	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	18859	51013172	27064076	568	11314											
ATP8B1	5205	broad.mit.edu	37	chr18	55315748	55315748	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccggtgcgcctgtactccGcggtgccatccgccacgatg	4	7	12	18	6	0	0	0	0	0	0	2	1	2	0	7	2	3	1	7	2	1	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:55315748G>A	ENST00000536015.1	-	28	3847	c.3728C>T	c.(3727-3729)gCg>gTg	p.A1243V	RP11-35G9.3_ENST00000591854.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000592201.1_RNA|ATP8B1_ENST00000283684.4_Missense_Mutation_p.A1243V	NM_005603.4	NP_005594.1	O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	1243					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				CCTGTACTCCGCGGTGCCATC	0.617													13	47					0	0	1	0	0	A	55315748	G	A	55315748	3	1	234	1	0	0	0	0	1	0	0	0	1192	1087	38	1	31	1	ATP8B1	18	55315748	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	4302576	55315748	22761500	569	11315											
ALPK2	115701	broad.mit.edu	37	chr18	56246941	56246941	+	Frame_Shift_Del	DEL	A	A	-																															cttcgtcatcgctttctaatAaaaaaacatgctcagtcccc																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:56246941delA	ENST00000361673.3	-	4	1280	c.1067delT	c.(1066-1068)tafs	p.L357fs		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	357							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GCTTTCTAATAAAAAAACATG	0.478											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	56	---	---	---	---						-	56246941	A	-	56246941	7	5	234	1	0	1	0	1	0	0	0	0	541	372	13	0	5485	0	ALPK2	18	56246941	Frame_Shift_Del	DEL	A	TCGA-J9-A52C-01A-11D-A26M-08	931193	56246941	21830307	570	11316											
SERPINB4	6318	broad.mit.edu	37	chr18	61305232	61305232	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accattcccatggttctcaaCgtgtccttgaggtcatagct	8	13	8	12	1	2	1	2	1	1	0	5	1	4	1	3	2	2	2	3	2	2	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:61305232C>T	ENST00000341074.5	-	8	1009	c.894G>A	c.(892-894)acG>acA	p.T298T	SERPINB4_ENST00000356424.6_Silent_p.T246T	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						TGGTTCTCAACGTGTCCTTGA	0.453													7	56					0	0	1	0	0	T	61305232	C	T	61305232	2	4	234	1	0	0	0	0	0	0	0	1	14157	523	19	1		1	SERPINB4	18	61305232	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	5058291	61305232	16772016	571	11317											
ZNF516	9658	broad.mit.edu	37	chr18	74091250	74091250	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctattggccgagggctgcgcGccagcccgggcgatgacggt	5	6	17	13	6	0	1	0	1	0	0	0	3	0	1	3	4	2	1	3	4	1	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:74091250G>A	ENST00000443185.2	-	4	3137	c.2820C>T	c.(2818-2820)ggC>ggT	p.G940G	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	940					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		AGGGCTGCGCGCCAGCCCGGG	0.701													7	33					0	0	1	0	0	A	74091250	G	A	74091250	2	1	234	1	0	0	0	0	0	0	0	1	18017	1074	38	1		1	ZNF516	18	74091250	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	12786018	74091250	3985998	572	11318											
SALL3	27164	broad.mit.edu	37	chr18	76755234	76755234	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgagggtcccccgctgccCgcgggcgtccaggtccccgc	2	4	16	19	6	0	0	0	0	0	0	3	1	3	0	6	4	1	1	6	4	0	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr18:76755234C>T	ENST00000536229.3	+	2	3337	c.2628C>T	c.(2626-2628)ccC>ccT	p.P876P	SALL3_ENST00000537592.2_Silent_p.P1081P|SALL3_ENST00000575389.2_Silent_p.P1009P			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	1081					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CCCCGCTGCCCGCGGGCGTCC	0.711													6	20					0	0	1	0	0	T	76755234	C	T	76755234	2	4	234	1	0	0	0	0	0	0	0	1	13864	639	23	1		1	SALL3	18	76755234	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	2663984	76755234	1322014	573	11319											
GRIN3B	116444	broad.mit.edu	37	chr19	1005552	1005552	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcggggatccacgaccccaaGgtgggcggcctcggggggct	5	5	18	13	4	0	0	0	0	0	0	3	2	1	1	4	8	0	1	4	8	1	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:1005552G>A	ENST00000234389.3	+	3	2071	c.2052_splice	c.e3+1	p.K684_splice		NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	684					ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	ACGACCCCAAGGTGGGCGGCC	0.701													5	17					0	0	1	0	0	A	1005552	G	A	1005552	5	1	234	1	0	0	0	0	0	0	1	0	6825	1014	35	2	2062	2	GRIN3B	19	1005552	Splice_Site	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08		1005552	58123431	574	11320											
C19orf26	255057	broad.mit.edu	37	chr19	1234615	1234615	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaggtggccgggtggggCgtggtggctgagctggcctc	3	7	23	8	2	0	2	0	1	0	1	1	3	0	2	2	9	1	2	2	9	0	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:1234615C>T	ENST00000590083.1	-	6	874	c.582G>A	c.(580-582)acG>acA	p.T194T	C19orf26_ENST00000215376.6_Silent_p.T188T|C19orf26_ENST00000382477.2_Silent_p.T214T			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	214						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGGGTGGGGCGTGGTGGCTG	0.682										HNSCC(14;0.022)			4	10					0	0	1	0	0	T	1234615	C	T	1234615	2	4	234	1	0	0	0	0	0	0	0	1	1928	755	27	1		1	C19orf26	19	1234615	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	229063	1234615	57894368	575	11321											
DOT1L	84444	broad.mit.edu	37	chr19	2226857	2226857	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcggccccggcctggcccCggcggcgtcctccgcaggcg	2	3	16	20	7	0	0	0	0	0	0	2	0	2	0	7	6	1	1	7	6	0	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:2226857C>T	ENST00000398665.3	+	27	4373	c.4337C>T	c.(4336-4338)cCg>cTg	p.P1446L		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1446						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCTGGCCCCGGCGGCGTCC	0.756													6	34					0	0	1	0	0	T	2226857	C	T	2226857	3	4	234	1	0	0	0	0	1	0	0	0	4736	652	23	1	4443	1	DOT1L	19	2226857	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	992242	2226857	56902126	576	11322											
TJP3	27134	broad.mit.edu	37	chr19	3728407	3728407	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctcatgcccatcttccccGctcccctcgaccaggtggct	4	9	8	20	2	2	0	1	0	1	0	5	1	4	0	7	2	1	2	7	2	0	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:3728407G>A	ENST00000587686.1	+	1	34	c.34G>A	c.(34-36)Gct>Act	p.A12T	TJP3_ENST00000589378.1_Intron|TJP3_ENST00000541714.2_Intron|TJP3_ENST00000262968.9_Missense_Mutation_p.A12T|TJP3_ENST00000539908.2_Intron|TJP3_ENST00000382008.3_Intron			O95049	ZO3_HUMAN	tight junction protein 3	0	PDZ 1.					tight junction	protein binding	p.A12T(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		CATCTTCCCCGCTCCCCTCGA	0.632													8	20					0	0	1	0	0	A	3728407	G	A	3728407	3	1	234	1	0	0	0	0	1	0	0	0	15991	1087	38	1	36	1	TJP3	19	3728407	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1501550	3728407	55400576	577	11323											
PTPRS	5802	broad.mit.edu	37	chr19	5274309	5274309	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgaaagaggccacacccccCgacacgccgatctggtcctt	10	5	9	17	4	1	1	0	0	1	1	2	4	2	1	6	2	0	0	6	2	1	1	rs140383630		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:5274309C>T	ENST00000372412.4	-	3	371	c.138G>A	c.(136-138)tcG>tcA	p.S46S	PTPRS_ENST00000353284.2_Silent_p.S46S|PTPRS_ENST00000590509.1_Silent_p.S46S|PTPRS_ENST00000262963.6_Silent_p.S46S|PTPRS_ENST00000348075.2_Silent_p.S46S|PTPRS_ENST00000592099.1_Silent_p.S46S|PTPRS_ENST00000587303.1_Silent_p.S46S|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000357368.4_Silent_p.S46S|PTPRS_ENST00000588012.1_Silent_p.S46S			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	46	Ig-like C2-type 1.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		CCACACCCCCCGACACGCCGA	0.597													12	37					0	0	1	0	0	T	5274309	C	T	5274309	2	4	234	1	0	0	0	0	0	0	0	1	12863	639	23	1		1	PTPRS	19	5274309	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	1545902	5274309	53854674	578	11324											
MYO1F	4542	broad.mit.edu	37	chr19	8612974	8612974	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgctgcagcttctcattgacGaagttgatgcaaaactgctc	10	12	9	10	1	1	2	1	2	1	0	3	3	1	2	0	0	6	6	0	0	3	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:8612974G>A	ENST00000338257.8	-	12	1482	c.1215C>T	c.(1213-1215)ttC>ttT	p.F405F		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	405	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						TCTCATTGACGAAGTTGATGC	0.552													26	161					0	0	1	0	0	A	8612974	G	A	8612974	2	1	234	1	0	0	0	0	0	0	0	1	10121	1049	37	1		1	MYO1F	19	8612974	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	3338665	8612974	50516009	579	11325											
QTRT1	81890	broad.mit.edu	37	chr19	10823682	10823682	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgacaacacggccgcgcTgcaccacctcacggtccaca	10	4	9	18	4	1	1	1	1	0	0	2	1	2	1	4	2	2	2	4	2	1	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:10823682T>C	ENST00000250237.5	+	9	1035	c.1025T>C	c.(1024-1026)cTg>cCg	p.L342P		NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	342					queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity			large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			ACGGCCGCGCTGCACCACCTC	0.687													7	25					0	0	1	0	0	C	10823682	T	C	10823682	3	2	234	1	0	0	0	0	1	0	0	0	12937	1580	55	3	1059	3	QTRT1	19	10823682	Missense_Mutation	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	2210708	10823682	48305301	580	11326											
LDLR	3949	broad.mit.edu	37	chr19	11224018	11224018	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagatgacgctggaccggagCgagtacaccagcctcatccc	11	5	11	14	3	1	2	1	1	0	1	2	5	2	4	4	2	3	2	4	2	2	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:11224018C>T	ENST00000558518.1	+	9	1438	c.1251C>T	c.(1249-1251)agC>agT	p.S417S	LDLR_ENST00000557933.1_Silent_p.S417S|LDLR_ENST00000535915.1_Silent_p.S376S|LDLR_ENST00000455727.2_Silent_p.S249S|LDLR_ENST00000545707.1_Silent_p.S290S|LDLR_ENST00000558013.1_Silent_p.S417S	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	417					cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	TGGACCGGAGCGAGTACACCA	0.612													7	36					0	0	1	0	0	T	11224018	C	T	11224018	2	4	234	1	0	0	0	0	0	0	0	1	8743	767	27	1		1	LDLR	19	11224018	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	400336	11224018	47904965	581	11327											
ZNF700	90592	broad.mit.edu	37	chr19	12058329	12058329	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tttctgtgtctgtattttagGaaaaaaatggagtgaccaga	13	14	10	4	0	2	2	0	1	2	1	2	4	2	4	1	2	0	1	1	2	5	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:12058329G>A	ENST00000482090.1	+	2	555	c.136_splice	c.e2-1	p.G46_splice	ZNF763_ENST00000590798.1_Intron|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000591944.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF700_ENST00000254321.5_Splice_Site_p.G64_splice			Q9H0M5	ZN700_HUMAN	zinc finger protein 700	64	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						TGTATTTTAGGAAAAAAATGG	0.368													5	40					0	0	1	0	0	A	12058329	G	A	12058329	5	1	234	1	0	0	0	0	0	0	1	0	18160	1188	41	2	201	2	ZNF700	19	12058329	Splice_Site	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	834311	12058329	47070654	582	11328											
ZNF443	10224	broad.mit.edu	37	chr19	12540985	12540985	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaatgctagtgagtctttttAtgtctatgcaaggaactgag	11	14	11	5	0	2	2	0	2	2	0	2	4	2	3	0	1	3	2	0	1	6	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:12540985A>G	ENST00000301547.5	-	4	2198	c.2001T>C	c.(1999-2001)caT>caC	p.H667H	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	667					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						GAGTCTTTTTATGTCTATGCA	0.343													10	36					0	0	1	0	0	G	12540985	A	G	12540985	2	3	234	1	0	0	0	0	0	0	0	1	17973	446	16	3		3	ZNF443	19	12540985	Silent	SNP	A	TCGA-J9-A52C-01A-11D-A26M-08	482656	12540985	46587998	583	11329											
DNASE2	1777	broad.mit.edu	37	chr19	12989582	12989582	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtatgcagcagaggaggccGgtggagggaagttaggtaca	11	7	18	5	1	0	1	0	0	0	1	0	4	0	4	1	6	3	5	1	6	4	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:12989582G>A	ENST00000222219.3	-	4	505	c.413C>T	c.(412-414)cCg>cTg	p.P138L	DNASE2_ENST00000538460.1_Intron	NM_001375.2	NP_001366.1	O00115	DNS2A_HUMAN	deoxyribonuclease II, lysosomal	138					apoptosis	lysosome	deoxyribonuclease II activity|DNA binding|protein binding			breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						AGAGGAGGCCGGTGGAGGGAA	0.587													6	28					0	0	1	0	0	A	12989582	G	A	12989582	3	1	234	1	0	0	0	0	1	0	0	0	4691	1116	39	1	681	1	DNASE2	19	12989582	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	448597	12989582	46139401	584	11330											
CACNA1A	773	broad.mit.edu	37	chr19	13423524	13423524	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagagtggaagtaaggccGcgtcccaagcccgtacattt	11	7	13	10	3	0	1	0	0	0	1	1	3	1	3	3	3	2	2	3	3	5	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:13423524G>A	ENST00000360228.5	-	12	1626	c.1627C>T	c.(1627-1629)Cgg>Tgg	p.R543W	CACNA1A_ENST00000573710.2_Missense_Mutation_p.R544W	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	544					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	AAGTAAGGCCGCGTCCCAAGC	0.438													9	45					0	0	1	0	0	A	13423524	G	A	13423524	3	1	234	1	0	0	0	0	1	0	0	0	2556	1086	38	1	6148	1	CACNA1A	19	13423524	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	433942	13423524	45705459	585	11331											
IL27RA	9466	broad.mit.edu	37	chr19	14157260	14157260	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agattcagcctctgccccccGtagcgtggcagtcagcagca	8	7	11	15	2	3	1	2	0	1	1	3	1	3	1	4	1	5	4	4	1	1	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:14157260G>A	ENST00000263379.2	+	8	1096	c.971G>A	c.(970-972)cGt>cAt	p.R324H		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	324	Fibronectin type-III 2.				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						TCTGCCCCCCGTAGCGTGGCA	0.637													6	106					0	0	1	0	0	A	14157260	G	A	14157260	3	1	234	1	0	0	0	0	1	0	0	0	7725	1145	40	1	1001	1	IL27RA	19	14157260	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	733736	14157260	44971723	586	11332											
WIZ	58525	broad.mit.edu	37	chr19	15535752	15535752	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgacgcaccactcggtcacGccgaactgccgcaggtgtgc	7	7	12	15	5	1	1	1	1	0	0	2	2	1	1	3	2	3	2	3	2	1	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:15535752G>A	ENST00000389282.4	-	8	4485	c.4272C>T	c.(4270-4272)ggC>ggT	p.G1424G	WIZ_ENST00000545156.1_Silent_p.G738G|WIZ_ENST00000263381.6_Silent_p.G567G|WIZ_ENST00000599686.2_Silent_p.G608G|WIZ_ENST00000599910.1_Silent_p.G741G			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	1424						nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						ACTCGGTCACGCCGAACTGCC	0.657													3	8					0	0	1	0	0	A	15535752	G	A	15535752	2	1	234	1	0	0	0	0	0	0	0	1	17435	1074	38	1		1	WIZ	19	15535752	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1378492	15535752	43593231	587	11333											
PGLYRP2	114770	broad.mit.edu	37	chr19	15580623	15580623	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctcggtgggcagcgccgcGgtgtagttgcccactatggc	4	8	16	13	4	0	0	0	0	0	0	1	0	0	0	3	4	2	3	3	4	2	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:15580623G>A	ENST00000292609.4	-	4	1590	c.1461C>T	c.(1459-1461)acC>acT	p.T487T	PGLYRP2_ENST00000340880.4_Silent_p.T487T			Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	487					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						GCAGCGCCGCGGTGTAGTTGC	0.731													3	5					0	0	1	0	0	A	15580623	G	A	15580623	2	1	234	1	0	0	0	0	0	0	0	1	11842	1103	39	1		1	PGLYRP2	19	15580623	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	44871	15580623	43548360	588	11334											
NWD1	284434	broad.mit.edu	37	chr19	16860827	16860827	+	Frame_Shift_Del	DEL	C	C	-																															ccctggctgcctctcaactgCcccccgagggtgcacctcat																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:16860827delC	ENST00000524140.2	+	6	1792	c.1374delC	c.(1372-1374)tgfs	p.C458fs	NWD1_ENST00000379808.3_Frame_Shift_Del_p.C458fs|NWD1_ENST00000339803.6_Frame_Shift_Del_p.C323fs|NWD1_ENST00000552788.1_Frame_Shift_Del_p.C458fs|NWD1_ENST00000549814.1_Frame_Shift_Del_p.C458fs|NWD1_ENST00000523826.1_Frame_Shift_Del_p.C252fs	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	458	NACHT.						ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CTCTCAACTGCCCCCCGAGGG	0.632													18	79	---	---	---	---						-	16860827	C	-	16860827	7	5	234	1	0	1	0	1	0	0	0	0	10829	747	26	0	975	0	NWD1	19	16860827	Frame_Shift_Del	DEL	C	TCGA-J9-A52C-01A-11D-A26M-08	1280204	16860827	42268156	589	11335											
JAK3	3718	broad.mit.edu	37	chr19	17943479	17943479	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcacctgtattgtcgcctagCgggtcatagcggcacagctc	7	9	12	13	3	1	0	1	0	0	0	3	0	1	0	2	2	3	4	2	2	3	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:17943479C>T	ENST00000458235.1	-	19	2628	c.2529G>A	c.(2527-2529)ccG>ccA	p.P843P	JAK3_ENST00000534444.1_Silent_p.P843P|JAK3_ENST00000527670.1_Silent_p.P843P	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	843	Protein kinase 2.				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						TGTCGCCTAGCGGGTCATAGC	0.622		2	Mis		"acute megakaryocytic leukemia, ETP ALL"								15	76					0	0	1	0	0	T	17943479	C	T	17943479	2	4	234	1	0	0	0	0	0	0	0	1	7983	755	27	1		1	JAK3	19	17943479	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	1082652	17943479	41185504	590	11336											
UPF1	5976	broad.mit.edu	37	chr19	18976421	18976421	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggggacgccagaagaaccGctttgggcttcctggaccca	8	7	14	12	2	0	2	0	0	0	2	1	4	1	4	4	4	1	2	4	4	2	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:18976421G>A	ENST00000262803.5	+	22	3343	c.3071G>A	c.(3070-3072)cGc>cAc	p.R1024H	UPF1_ENST00000599848.1_Missense_Mutation_p.R1035H	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	1035					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CAGAAGAACCGCTTTGGGCTT	0.652													24	143					0	0	1	0	0	A	18976421	G	A	18976421	3	1	234	1	0	0	0	0	1	0	0	0	17063	1087	38	1	3157	1	UPF1	19	18976421	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1032942	18976421	40152562	591	11337											
NR2C2AP	126382	broad.mit.edu	37	chr19	19312306	19312306	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggggaagttgaggttcctggGgtgagtcctcggttctccca	5	11	16	9	1	1	2	0	2	1	0	5	3	3	3	3	6	0	3	3	6	1	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:19312306G>T	ENST00000420605.2	-	6	777	c.481C>A	c.(481-483)Ccc>Acc	p.P161T	RFXANK_ENST00000353145.1_Intron|RFXANK_ENST00000392324.4_Intron|NR2C2AP_ENST00000331552.6_3'UTR|RFXANK_ENST00000303088.4_Intron|RFXANK_ENST00000456252.3_Intron|NR2C2AP_ENST00000590907.2_Silent_p.T42T|RFXANK_ENST00000407360.3_Intron			Q86WQ0	NR2CA_HUMAN	nuclear receptor 2C2-associated protein	0					cell adhesion|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm				breast(1)|cervix(1)|kidney(2)|ovary(1)	5			Epithelial(12;0.00235)			AGGTTCCTGGGGTGAGTCCTC	0.458													5	10					0.184627	0.185137	1	1	0	T	19312306	G	T	19312306	3	4	234	1	0	0	0	0	1	0	0	0	10672	1247	43	4		4	NR2C2AP	19	19312306	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	335885	19312306	39816677	592	11338											
ZNF91	7644	broad.mit.edu	37	chr19	23543822	23543822	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catttgtagggtttctctccAgtatgaattctcttatgttt	7	20	7	7	0	2	1	0	1	2	0	5	1	3	1	1	1	0	4	1	1	4	7			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:23543822A>G	ENST00000300619.7	-	4	2164	c.1959T>C	c.(1957-1959)acT>acC	p.T653T	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Silent_p.T621T	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	653						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GTTTCTCTCCAGTATGAATTC	0.383													7	35					0	0	1	0	0	G	23543822	A	G	23543822	2	3	234	1	0	0	0	0	0	0	0	1	18242	175	7	3		3	ZNF91	19	23543822	Silent	SNP	A	TCGA-J9-A52C-01A-11D-A26M-08	4231516	23543822	35585161	593	11339											
ZNF30	90075	broad.mit.edu	37	chr19	35435346	35435347	+	Frame_Shift_Del	DEL	TT	TT	-																															tgtaaggaatgtggaaagacTtttagtcgagcctcgtacct																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:35435346_35435347delTT	ENST00000439785.1	+	5	1923_1924	c.1479_1480delTT	c.(1477-1482)acttfs	p.TF493fs	ZNF30_ENST00000426813.2_Frame_Shift_Del_p.TF411fs|ZNF30_ENST00000601957.1_3'UTR|ZNF30_ENST00000601142.1_Frame_Shift_Del_p.TF492fs|ZNF30_ENST00000303586.7_Frame_Shift_Del_p.TF493fs	NM_001099438.1	NP_001092908.1	P17039	ZNF30_HUMAN	zinc finger protein 30	492				F -> L (in Ref. 2; CAE45802).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		GTGGAAAGACTTTTAGTCGAGC	0.45													12	42	---	---	---	---						-	35435347	TT	-	35435346	7	5	234	1	0	1	0	1	0	0	0	0	17887	1596	56	0	1493	0	ZNF30	19	35435346	Frame_Shift_Del	DEL	TT	TCGA-J9-A52C-01A-11D-A26M-08	11891524	35435346	23693637	594	11340											
LGALS14	56891	broad.mit.edu	37	chr19	40199855	40199855	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggtaatggtaaatggccaaCgcatttacaactttgcccat	13	11	8	9	1	0	0	0	0	0	0	0	0	0	0	2	3	4	3	2	3	6	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:40199855C>T	ENST00000392052.3	+	4	545	c.322C>T	c.(322-324)Cgc>Tgc	p.R108C	LGALS14_ENST00000360675.3_Missense_Mutation_p.R137C	NM_020129.2	NP_064514.1	Q8TCE9	PPL13_HUMAN	lectin, galactoside-binding, soluble, 14	108	Galectin.					nucleus	sugar binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|stomach(2)	14	all_cancers(60;4.39e-06)|all_lung(34;6.76e-08)|Lung NSC(34;7.98e-08)|Ovarian(47;0.06)	Myeloproliferative disorder(2;0.0741)	Epithelial(26;1.08e-24)|OV - Ovarian serous cystadenocarcinoma(5;1.92e-24)|all cancers(26;4.12e-22)			AAATGGCCAACGCATTTACAA	0.463													10	41					0	0	1	0	0	T	40199855	C	T	40199855	3	4	234	1	0	0	0	0	1	0	0	0	8780	536	19	1	442	1	LGALS14	19	40199855	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	4764509	40199855	18929128	595	11341											
FCGBP	8857	broad.mit.edu	37	chr19	40433639	40433639	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagctgtgacctttgacccCgagagatccactgagctctg	8	10	10	13	1	1	4	0	3	1	1	2	6	2	4	4	0	2	2	4	0	1	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:40433639C>T	ENST00000221347.6	-	2	637	c.630G>A	c.(628-630)tcG>tcA	p.S210S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	210	IgGFc-binding.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCTTTGACCCCGAGAGATCCA	0.547													7	78					0	0	1	0	0	T	40433639	C	T	40433639	2	4	234	1	0	0	0	0	0	0	0	1	5811	639	23	1		1	FCGBP	19	40433639	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	233784	40433639	18695344	596	11342											
CYP2B6	1555	broad.mit.edu	37	chr19	41497314	41497314	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcctcccaccagggccccGccctctgccccttttgggaa	4	7	9	21	2	1	0	0	0	1	0	2	1	2	1	9	2	1	0	9	2	1	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:41497314G>A	ENST00000324071.4	+	1	111	c.104G>A	c.(103-105)cGc>cAc	p.R35H	CYP2B6_ENST00000598834.1_3'UTR	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	35					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	CCAGGGCCCCGCCCTCTGCCC	0.572													51	257					0	0	1	0	0	A	41497314	G	A	41497314	3	1	234	1	0	0	0	0	1	0	0	0	4187	1087	38	1	106	1	CYP2B6	19	41497314	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1063675	41497314	17631669	597	11343											
CYP2S1	29785	broad.mit.edu	37	chr19	41700463	41700463	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccccagctgagtaagaagtaCggaccggtgttcaccatcta	11	8	10	12	2	2	2	1	1	1	1	2	3	2	3	4	2	2	4	4	2	4	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:41700463C>T	ENST00000310054.4	+	2	408	c.192C>T	c.(190-192)taC>taT	p.Y64Y	CYP2S1_ENST00000542619.1_5'UTR	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	64					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						GTAAGAAGTACGGACCGGTGT	0.617													7	44					0	0	1	0	0	T	41700463	C	T	41700463	2	4	234	1	0	0	0	0	0	0	0	1	4197	547	19	1		1	CYP2S1	19	41700463	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	203149	41700463	17428520	598	11344											
IRGC	56269	broad.mit.edu	37	chr19	44223536	44223536	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaccgccctggtgttgggcGtcatccaggccctgccggtc	4	8	14	15	3	1	1	1	0	0	1	3	1	2	1	5	4	1	1	5	4	0	1	rs147576016	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:44223536G>A	ENST00000244314.5	+	2	1025	c.826G>A	c.(826-828)Gtc>Atc	p.V276I		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	276						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				GGTGTTGGGCGTCATCCAGGC	0.637													7	51					0	0	1	0	0	A	44223536	G	A	44223536	3	1	234	1	0	0	0	0	1	0	0	0	7882	1145	40	1	828	1	IRGC	19	44223536	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	2523073	44223536	14905447	599	11345											
ZNF180	7733	broad.mit.edu	37	chr19	44981521	44981521	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgggaaacaaggtgcgagcTccggctgaaggattttccac	11	8	13	9	2	0	1	0	1	0	0	2	4	2	3	2	4	3	2	2	4	3	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:44981521T>C	ENST00000221327.4	-	5	1458	c.1177A>G	c.(1177-1179)Agc>Ggc	p.S393G	ZNF180_ENST00000592529.1_Missense_Mutation_p.S366G|ZNF180_ENST00000391956.4_Missense_Mutation_p.S368G	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	393					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				AGGTGCGAGCTCCGGCTGAAG	0.453													5	46					0	0	1	0	0	C	44981521	T	C	44981521	3	2	234	1	0	0	0	0	1	0	0	0	17806	1551	54	3	905	3	ZNF180	19	44981521	Missense_Mutation	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	757985	44981521	14147462	600	11346											
PPP1R13L	10848	broad.mit.edu	37	chr19	45888875	45888875	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggtaagggtcgcacttctcGaaggcggtggcgccgtcgct	5	8	16	12	7	1	0	0	0	1	0	4	1	1	0	1	5	0	3	1	5	2	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:45888875G>A	ENST00000418234.2	-	11	2271	c.2193C>T	c.(2191-2193)ttC>ttT	p.F731F	PPP1R13L_ENST00000360957.5_Silent_p.F731F	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	731					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CGCACTTCTCGAAGGCGGTGG	0.677													7	36					0	0	1	0	0	A	45888875	G	A	45888875	2	1	234	1	0	0	0	0	0	0	0	1	12407	1049	37	1		1	PPP1R13L	19	45888875	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	907354	45888875	13240108	601	11347											
PPP1R13L	10848	broad.mit.edu	37	chr19	45895240	45895240	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgccctggcctcagatccCtcagtgatgggggacagctc	6	8	12	15	0	2	2	2	1	0	1	4	3	3	3	4	3	2	1	4	3	0	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:45895240C>A	ENST00000418234.2	-	8	1791	c.1713G>T	c.(1711-1713)gaG>gaT	p.E571D	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.E571D	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	571	Pro-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CCTCAGATCCCTCAGTGATGG	0.692													10	48					4.68919e-08	4.78798e-08	1	1	0	A	45895240	C	A	45895240	3	1	234	1	0	0	0	0	1	0	0	0	12407	680	24	4	797	4	PPP1R13L	19	45895240	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	6365	45895240	13233743	602	11348											
ARHGAP35	2909	broad.mit.edu	37	chr19	47424502	47424502	+	Frame_Shift_Del	DEL	T	T	-																															gttggttcatgggtacattgTtttttattcagccaaacgta																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:47424502delT	ENST00000404338.3	+	1	2570	c.2570delT	c.(2569-2571)gtfs	p.V857fs		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	857					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										GGGTACATTGTTTTTTATTCA	0.433													13	71	---	---	---	---						-	47424502	T	-	47424502	7	5	234	1	0	1	0	1	0	0	0	0	6836	1725	60	0	2572	0	ARHGAP35	19	47424502	Frame_Shift_Del	DEL	T	TCGA-J9-A52C-01A-11D-A26M-08	1529262	47424502	11704481	603	11349											
CCDC114	93233	broad.mit.edu	37	chr19	48801323	48801323	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaggctctggcccagcactAggagggcagcgtcggccagg	7	4	16	14	2	1	0	0	0	1	0	2	1	1	1	3	6	2	3	3	6	1	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:48801323A>G	ENST00000315396.7	-	12	2007	c.1325T>C	c.(1324-1326)cTa>cCa	p.L442P		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	442										cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		GCCCAGCACTAGGAGGGCAGC	0.692													15	57					0	0	1	0	0	G	48801323	A	G	48801323	3	3	234	1	0	0	0	0	1	0	0	0	2769	420	15	3	699	3	CCDC114	19	48801323	Missense_Mutation	SNP	A	TCGA-J9-A52C-01A-11D-A26M-08	1376821	48801323	10327660	604	11350											
CYTH2	9266	broad.mit.edu	37	chr19	48977182	48977182	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtttctatggagctttcGcctacccggagaggcccaga	8	9	12	12	2	1	2	0	0	1	2	2	4	1	3	3	3	2	3	3	3	2	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:48977182G>A	ENST00000427476.1	+	6	755	c.455G>A	c.(454-456)cGc>cAc	p.R152H	CYTH2_ENST00000452733.2_Missense_Mutation_p.R152H	NM_004228.6|NM_017457.5	NP_004219.3|NP_059431.1	Q99418	CYH2_HUMAN	cytohesin 2	152	SEC7.				actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|membrane fraction|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						TGGAGCTTTCGCCTACCCGGA	0.612													9	33					0	0	1	0	0	A	48977182	G	A	48977182	3	1	234	1	0	0	0	0	1	0	0	0	4227	1087	38	1	477	1	CYTH2	19	48977182	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	175859	48977182	10151801	605	11351											
CPT1C	126129	broad.mit.edu	37	chr19	50208490	50208490	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactttgctgatgggaatgcGccccttatgctctgcccagt	6	12	11	12	1	1	1	0	1	1	0	1	3	1	2	3	1	4	2	3	1	2	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:50208490G>A	ENST00000392518.4	+	10	1271	c.899G>A	c.(898-900)cGc>cAc	p.R300H	CPT1C_ENST00000323446.5_Missense_Mutation_p.R300H|CPT1C_ENST00000405931.2_Missense_Mutation_p.R289H|CPT1C_ENST00000354199.5_Missense_Mutation_p.R300H|CPT1C_ENST00000598293.1_Missense_Mutation_p.R300H	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	300					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		ATGGGAATGCGCCCCTTATGC	0.587													20	98					0	0	1	0	0	A	50208490	G	A	50208490	3	1	234	1	0	0	0	0	1	0	0	0	3856	1087	38	1	929	1	CPT1C	19	50208490	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1231308	50208490	8920493	606	11352											
KLK15	55554	broad.mit.edu	37	chr19	51329944	51329944	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtttgtcaggcgccctgggTagctcttgtcacaagatgtg	6	13	13	9	1	3	1	2	0	1	1	3	1	3	1	1	2	1	3	1	2	2	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:51329944T>C	ENST00000326856.4	-	5	677	c.548A>G	c.(547-549)tAc>tGc	p.Y183C	KLK15_ENST00000301421.2_Intron|KLK15_ENST00000598239.1_Missense_Mutation_p.Y184C|KLK15_ENST00000596931.1_Intron|KLK15_ENST00000416184.1_Intron	NM_001277081.1	NP_001264010.1	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	184	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		GCGCCCTGGGTAGCTCTTGTC	0.567													19	79					0	0	1	0	0	C	51329944	T	C	51329944	3	2	234	1	0	0	0	0	1	0	0	0	8446	1638	57	3	227	3	KLK15	19	51329944	Missense_Mutation	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	1121454	51329944	7799039	607	11353											
SIGLEC9	27180	broad.mit.edu	37	chr19	51628275	51628275	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctgggggagggagagggCggaaggacagacaagtaaac	13	3	19	6	1	1	2	0	0	1	2	1	6	1	5	0	6	1	2	0	6	4	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:51628275C>T	ENST00000440804.3	+	1	111	c.44C>T	c.(43-45)gCg>gTg	p.A15V	SIGLEC9_ENST00000250360.3_Missense_Mutation_p.A15V	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	15					cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		AGGGAGAGGGCGGAAGGACAG	0.612													7	36					0	0	1	0	0	T	51628275	C	T	51628275	3	4	234	1	0	0	0	0	1	0	0	0	14370	768	27	1	46	1	SIGLEC9	19	51628275	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	298331	51628275	7500708	608	11354											
LIM2	3982	broad.mit.edu	37	chr19	51890427	51890427	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccctttccctctttgagccGcagagttctccatctggaat	6	14	7	14	1	3	2	0	1	3	1	6	3	5	3	4	1	1	2	4	1	1	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:51890427G>A	ENST00000221973.3	-	2	313	c.271C>T	c.(271-273)Cgg>Tgg	p.R91W	LIM2_ENST00000596399.1_Intron	NM_030657.3	NP_085915.2	P55344	LMIP_HUMAN	lens intrinsic membrane protein 2, 19kDa	58					cell-cell junction assembly	cell junction|integral to membrane	structural constituent of eye lens			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)		tctttgagccgcagagttctc	0.622													4	15					0	0	1	0	0	A	51890427	G	A	51890427	3	1	234	1	0	0	0	0	1	0	0	0	8835	1086	38	1	392	1	LIM2	19	51890427	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	262152	51890427	7238556	609	11355											
SIGLEC6	946	broad.mit.edu	37	chr19	52034107	52034107	+	Frame_Shift_Del	DEL	G	G	-																															gctgacatccaggagaagatGgggggcgtcccctgctcaca																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:52034107delG	ENST00000346477.3	-	3	602	c.534delC	c.(532-534)ccfs	p.P178fs	SIGLEC6_ENST00000391797.3_Frame_Shift_Del_p.P167fs|SIGLEC6_ENST00000343300.4_Frame_Shift_Del_p.P178fs|SIGLEC6_ENST00000425629.3_Frame_Shift_Del_p.P178fs|SIGLEC6_ENST00000436458.1_Frame_Shift_Del_p.P142fs|SIGLEC6_ENST00000359982.4_Frame_Shift_Del_p.P178fs	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	178	Ig-like C2-type 1.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		AGGAGAAGATGGGGGGCGTCC	0.662													18	103	---	---	---	---						-	52034107	G	-	52034107	7	5	234	1	0	1	0	1	0	0	0	0	14367	1335	47	0	884	0	SIGLEC6	19	52034107	Frame_Shift_Del	DEL	G	TCGA-J9-A52C-01A-11D-A26M-08	143680	52034107	7094876	610	11356											
ZNF175	7728	broad.mit.edu	37	chr19	52091407	52091408	+	Frame_Shift_Del	DEL	CT	CT	-																															tttccataaacatcaaataaCtcacactagagagaggcctt																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:52091407_52091408delCT	ENST00000262259.2	+	5	2181_2182	c.1823_1824delCT	c.(1822-1824)afs	p.T608fs	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	608					response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		CATCAAATAACTCACACTAGAG	0.436													17	122	---	---	---	---						-	52091408	CT	-	52091407	7	5	234	1	0	1	0	1	0	0	0	0	17803	565	20	0	1837	0	ZNF175	19	52091407	Frame_Shift_Del	DEL	CT	TCGA-J9-A52C-01A-11D-A26M-08	57300	52091407	7037576	611	11357											
ZNF880	400713	broad.mit.edu	37	chr19	52887682	52887682	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcactcaaaattctcacctTgcaaatcatcacagaatcca	15	11	2	13	0	5	1	5	0	1	1	7	1	6	1	2	0	1	1	2	0	4	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:52887682T>A	ENST00000422689.2	+	4	864	c.849T>A	c.(847-849)ctT>ctA	p.L283L		NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	283					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						ATTCTCACCTTGCAAATCATC	0.408													5	19					0	0	1	0	0	A	52887682	T	A	52887682	2	1	234	1	0	0	0	0	0	0	0	1	18240	1799	63	5		5	ZNF880	19	52887682	Silent	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	796275	52887682	6241301	612	11358											
ZNF28	7576	broad.mit.edu	37	chr19	53303248	53303248	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttataagcgatgatgtctgaCggaaggtcttgccacactca	11	11	10	9	2	3	2	1	2	2	0	3	4	3	3	1	2	2	0	1	2	3	3	rs139889621	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:53303248C>T	ENST00000438150.2	-	2	2584	c.1691G>A	c.(1690-1692)cGt>cAt	p.R564H	ZNF28_ENST00000414252.2_Missense_Mutation_p.R564H|ZNF28_ENST00000457749.2_Missense_Mutation_p.R617H|ZNF28_ENST00000360272.4_Missense_Mutation_p.R564H			P17035	ZNF28_HUMAN	zinc finger protein 28	617					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TGATGTCTGACGGAAGGTCTT	0.463													21	137					0	0	1	0	0	T	53303248	C	T	53303248	3	4	234	1	0	0	0	0	1	0	0	0	17871	536	19	1	310	1	ZNF28	19	53303248	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	415566	53303248	5825735	613	11359											
CACNG8	59283	broad.mit.edu	37	chr19	54466610	54466610	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccccaccgcgggggcggcGgcgcctcggagaagaaggac	7	1	17	16	6	0	2	0	0	0	2	1	4	0	3	5	6	0	0	5	6	2	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:54466610G>A	ENST00000270458.2	+	1	317	c.214G>A	c.(214-216)Ggc>Agc	p.G72S		NM_031895.5	NP_114101.4	Q8WXS5	CCG8_HUMAN	calcium channel, voltage-dependent, gamma subunit 8	72					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		CGGGGGCGGCGGCGCCTCGGA	0.726													4	21					0	0	1	0	0	A	54466610	G	A	54466610	3	1	234	1	0	0	0	0	1	0	0	0	2581	1116	39	1	216	1	CACNG8	19	54466610	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1163362	54466610	4662373	614	11360											
LILRA2	0	broad.mit.edu	37	chr19	55086796	55086796	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggagagcctgaccctccaGtgtgtctctgatgtcggcta	6	10	14	11	1	1	3	0	2	1	1	4	4	2	3	3	3	1	1	3	3	1	1	rs148748826		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:55086796G>A	ENST00000251377.3	+	6	862	c.729G>A	c.(727-729)caG>caA	p.Q243Q	LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391738.3_Silent_p.Q243Q|LILRA2_ENST00000251376.3_Silent_p.Q243Q|LILRA2_ENST00000391737.1_Silent_p.Q231Q|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		TGACCCTCCAGTGTGTCTCTG	0.577													15	94					0	0	1	0	0	A	55086796	G	A	55086796	2	1	234	1	0	0	0	0	0	0	0	1	8825	1020	36	2		2	LILRA2	19	55086796	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	620186	55086796	4042187	615	11361											
KIR3DL1	3811	broad.mit.edu	37	chr19	55341682	55341682	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagataccatcttgtacacGgaacttccaaatgctaagcc	14	9	6	12	1	1	1	0	0	1	1	2	2	2	2	3	1	5	2	3	1	5	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:55341682G>A	ENST00000391728.4	+	9	1320	c.1287G>A	c.(1285-1287)acG>acA	p.T429T	KIR3DL1_ENST00000541392.1_Silent_p.T412T|KIR3DL1_ENST00000358178.4_Silent_p.T334T|KIR3DL1_ENST00000538269.1_Silent_p.T429T|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000326542.7_Silent_p.T412T	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1											breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		TCTTGTACACGGAACTTCCAA	0.512													36	88					0	0	1	0	0	A	55341682	G	A	55341682	2	1	234	1	0	0	0	0	0	0	0	1	8363	1103	39	1		1	KIR3DL1	19	55341682	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	254886	55341682	3787301	616	11362											
NLRP8	126205	broad.mit.edu	37	chr19	56459552	56459552	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatagagcgtttccctggacGacgcgcttgggatgtgactt	7	11	14	9	4	0	2	0	1	0	1	1	6	1	4	1	2	1	2	1	2	1	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:56459552G>A	ENST00000291971.3	+	1	355	c.284G>A	c.(283-285)cGa>cAa	p.R95Q	NLRP8_ENST00000590542.1_Missense_Mutation_p.R95Q	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	95	DAPIN.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TTCCCTGGACGACGCGCTTGG	0.507													6	38					0	0	1	0	0	A	56459552	G	A	56459552	3	1	234	1	0	0	0	0	1	0	0	0	10530	1058	37	1	286	1	NLRP8	19	56459552	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1117870	56459552	2669431	617	11363											
ZNF835	90485	broad.mit.edu	37	chr19	57175886	57175886	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggttgcggaacgccttggcGcactgggcgcacgcgtaggg	5	6	18	12	7	0	0	0	0	0	0	0	1	0	1	1	5	2	4	1	5	2	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:57175886G>A	ENST00000537055.2	-	2	912	c.681C>T	c.(679-681)tgC>tgT	p.C227C		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						ACGCCTTGGCGCACTGGGCGC	0.706													12	20					0	0	1	0	0	A	57175886	G	A	57175886	2	1	234	1	0	0	0	0	0	0	0	1	18233	1079	38	1		1	ZNF835	19	57175886	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	716334	57175886	1953097	618	11364											
ZNF419	79744	broad.mit.edu	37	chr19	58005261	58005261	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctcaaccctcatgcaacatCgaaaagttcacattggagaa	15	8	7	11	1	3	1	3	0	0	1	4	3	3	1	1	1	3	3	1	1	5	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr19:58005261C>T	ENST00000424930.2	+	5	1568	c.1339C>T	c.(1339-1341)Cga>Tga	p.R447*	ZNF419_ENST00000221735.7_Nonsense_Mutation_p.R446*|ZNF419_ENST00000354197.4_Intron|ZNF419_ENST00000426954.2_Nonsense_Mutation_p.R434*|ZNF419_ENST00000347466.6_Nonsense_Mutation_p.R414*|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000415379.2_Nonsense_Mutation_p.R400*|ZNF419_ENST00000442920.2_Nonsense_Mutation_p.R433*	NM_001098491.1|NM_024691.3	NP_001091961.1|NP_078967.3	Q96HQ0	ZN419_HUMAN	zinc finger protein 419	446					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R421*(1)|p.R414*(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		CATGCAACATCGAAAAGTTCA	0.433													16	91					0	0	1	0	0	T	58005261	C	T	58005261	4	4	234	1	0	0	0	0	0	1	0	0	17953	876	31	1	1357	1	ZNF419	19	58005261	Nonsense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	829375	58005261	1123722	619	11365											
GPCPD1	56261	broad.mit.edu	37	chr20	5550838	5550838	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatcatgatataccacgggCacaaagtcctttgaaaggtg	14	9	10	8	1	1	3	1	2	0	1	2	3	2	3	2	2	1	1	2	2	4	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr20:5550838C>T	ENST00000379019.4	-	12	1316	c.1104G>A	c.(1102-1104)gtG>gtA	p.V368V	GPCPD1_ENST00000481038.1_5'UTR	NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN	glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)	368	GDPD.				glycerol metabolic process|lipid metabolic process		carbohydrate binding|glycerophosphodiester phosphodiesterase activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						ATACCACGGGCACAAAGTCCT	0.363													4	46					0	0	1	0	0	T	5550838	C	T	5550838	2	4	234	1	0	0	0	0	0	0	0	1	6643	697	25	2		2	GPCPD1	20	5550838	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08		5550838	57474682	620	11366											
SPTLC3	55304	broad.mit.edu	37	chr20	13098266	13098266	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccgtgggcccaaccggccGgggtgtcacggagttctttg	4	8	17	12	4	2	0	1	0	1	0	2	1	2	1	4	6	1	1	4	6	1	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr20:13098266G>A	ENST00000399002.2	+	8	1320	c.1046G>A	c.(1045-1047)cGg>cAg	p.R349Q	SPTLC3_ENST00000378194.4_Intron	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	349					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	CCAACCGGCCGGGGTGTCACG	0.498													8	94					0	0	1	0	0	A	13098266	G	A	13098266	3	1	234	1	0	0	0	0	1	0	0	0	15181	1116	39	1	1076	1	SPTLC3	20	13098266	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	7547428	13098266	49927254	621	11367											
ESF1	51575	broad.mit.edu	37	chr20	13714387	13714388	+	Frame_Shift_Ins	INS	-	-	T																															cttctgtttccttttcagtcINStttttttctctttcttcttc																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr20:13714387_13714388insT	ENST00000202816.1	-	10	2037_2038	c.1930_1931insA	c.(1930-1932)actfs	p.T644fs		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	644	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						CCTTTTCAGTCTTTTTTTCTCT	0.347													9	19	---	---	---	---						T	13714388	-	T	13714387	7	5	234	1	0	1	1	0	0	0	0	0	5279	913	32	0	644	0	ESF1	20	13714387	Frame_Shift_Ins	INS	-	TCGA-J9-A52C-01A-11D-A26M-08	616121	13714387	49311133	622	11368											
CD93	22918	broad.mit.edu	37	chr20	23065887	23065887	+	Frame_Shift_Del	DEL	C	C	-																															gggtcccaggacgcacgtggCccccccacgacatgggctgg																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr20:23065887delC	ENST00000246006.4	-	1	1090	c.943delG	c.(943-945)ccfs	p.A315fs		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	315	EGF-like 2.				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					ACGCACGTGGCCCCCCCACGA	0.637													19	75	---	---	---	---						-	23065887	C	-	23065887	7	5	234	1	0	1	0	1	0	0	0	0	3069	739	26	0	1023	0	CD93	20	23065887	Frame_Shift_Del	DEL	C	TCGA-J9-A52C-01A-11D-A26M-08	9351500	23065887	39959633	623	11369											
ACSS1	84532	broad.mit.edu	37	chr20	24994194	24994194	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtaggccttgaagtaggcGtccacaaatcgctggtggtc	8	9	15	9	2	0	1	0	1	0	0	3	1	1	1	2	5	0	3	2	5	4	3	rs139870683		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr20:24994194G>A	ENST00000537502.1	-	8	2839	c.1308C>T	c.(1306-1308)gaC>gaT	p.D436D	ACSS1_ENST00000432802.2_Silent_p.D519D|ACSS1_ENST00000323482.4_Silent_p.D519D|ACSS1_ENST00000542618.1_Silent_p.D398D			Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	519					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TGAAGTAGGCGTCCACAAATC	0.572													5	35					0	0	1	0	0	A	24994194	G	A	24994194	2	1	234	1	0	0	0	0	0	0	0	1	188	1136	40	1		1	ACSS1	20	24994194	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1928307	24994194	38031326	624	11370											
MYH7B	57644	broad.mit.edu	37	chr20	33589834	33589834	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggagcgggcagacatggcGgaaacccaggccaacaagct	13	2	15	11	2	0	1	0	0	0	1	0	4	0	3	2	5	4	2	2	5	3	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr20:33589834G>A	ENST00000262873.7	+	42	5978	c.5886G>A	c.(5884-5886)gcG>gcA	p.A1962A		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	1920						membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CAGACATGGCGGAAACCCAGG	0.672													15	25					0	0	1	0	0	A	33589834	G	A	33589834	2	1	234	1	0	0	0	0	0	0	0	1	10088	1103	39	1		1	MYH7B	20	33589834	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	8595640	33589834	29435686	625	11371											
IFT52	51098	broad.mit.edu	37	chr20	42275596	42275596	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacatgacatcgatacaagTgaaacagcattccagaacaa	19	6	7	9	1	0	3	0	2	0	1	2	5	1	3	1	0	5	1	1	0	6	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr20:42275596T>C	ENST00000373030.3	+	14	1417	c.1287T>C	c.(1285-1287)agT>agC	p.S429S	IFT52_ENST00000471199.1_3'UTR|IFT52_ENST00000373039.4_Silent_p.S429S	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	intraflagellar transport 52 homolog (Chlamydomonas)	429						intraflagellar transport particle B|microtubule-based flagellum	protein C-terminus binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TCGATACAAGTGAAACAGCAT	0.353													13	72					0	0	1	0	0	C	42275596	T	C	42275596	2	2	234	1	0	0	0	0	0	0	0	1	7605	1693	59	3		3	IFT52	20	42275596	Silent	SNP	T	TCGA-J9-A52C-01A-11D-A26M-08	8685762	42275596	20749924	626	11372											
FAM65C	140876	broad.mit.edu	37	chr20	49236609	49236609	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaccccttccgcagcgtgccGtacatcttggaggattttgc	6	11	11	13	3	1	0	0	0	1	0	2	3	2	2	4	2	4	2	4	2	1	5	rs139735596	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr20:49236609G>A	ENST00000327979.2	-	3	582	c.171C>T	c.(169-171)taC>taT	p.Y57Y	FAM65C_ENST00000045083.2_Silent_p.Y57Y|FAM65C_ENST00000535356.1_Silent_p.Y61Y			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	57										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCAGCGTGCCGTACATCTTGG	0.547													10	76					0	0	1	0	0	A	49236609	G	A	49236609	2	1	234	1	0	0	0	0	0	0	0	1	5636	1140	40	1		1	FAM65C	20	49236609	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	6961013	49236609	13788911	627	11373											
BMP7	655	broad.mit.edu	37	chr20	55840761	55840761	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcgcctgcccttactcacCgaggttgacgaagctcatga	8	9	9	15	3	2	2	2	2	0	0	3	4	2	2	4	1	3	2	4	1	2	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr20:55840761C>T	ENST00000395863.3	-	1	923	c.418_splice	c.e1+1	p.V140_splice	BMP7_ENST00000450594.2_Splice_Site_p.V140_splice|BMP7_ENST00000395864.3_Splice_Site_p.V140_splice	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	140					BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity	p.V140M(1)		endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			CCTTACTCACCGAGGTTGACG	0.622													4	5					0	0	1	0	0	T	55840761	C	T	55840761	5	4	234	1	0	0	0	0	0	0	1	0	1464	666	23	1	905	1	BMP7	20	55840761	Splice_Site	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	6604152	55840761	7184759	628	11374											
SLCO4A1	28231	broad.mit.edu	37	chr20	61288118	61288118	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctcaacacgcccaagggCatcctgttcttcctgtgtgc	6	11	9	15	1	2	0	1	0	1	0	5	0	5	0	4	1	2	2	4	1	2	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr20:61288118C>T	ENST00000217159.1	+	2	517	c.312C>T	c.(310-312)ggC>ggT	p.G104G	SLCO4A1_ENST00000370507.1_Silent_p.G104G	NM_016354.3	NP_057438.3	Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	104					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			CGCCCAAGGGCATCCTGTTCT	0.647													3	17					0	0	1	0	0	T	61288118	C	T	61288118	2	4	234	1	0	0	0	0	0	0	0	1	14784	697	25	2		2	SLCO4A1	20	61288118	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	5447357	61288118	1737402	629	11375											
TCFL5	10732	broad.mit.edu	37	chr20	61492658	61492658	+	Frame_Shift_Del	DEL	C	C	-																															gctcctggaagtcgatgtggCccaggcagggcgcgtcggcc																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr20:61492658delC	ENST00000335351.3	-	1	457	c.365delG	c.(364-366)gcfs	p.G122fs	TCFL5_ENST00000217162.5_Frame_Shift_Del_p.G74fs	NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN	transcription factor-like 5 (basic helix-loop-helix)	122	Ala-rich.				cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9	Breast(26;5.68e-08)					GTCGATGTGGCCCAGGCAGGG	0.786													2	4	---	---	---	---						-	61492658	C	-	61492658	7	5	234	1	0	1	0	1	0	0	0	0	15759	739	26	0	1161	0	TCFL5	20	61492658	Frame_Shift_Del	DEL	C	TCGA-J9-A52C-01A-11D-A26M-08	204540	61492658	1532862	630	11376											
DIDO1	11083	broad.mit.edu	37	chr20	61513671	61513671	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgaagtcgggtccgcttttCgtccatcttgtctaactctc	5	16	8	12	3	3	1	0	1	3	0	8	1	5	1	2	1	1	1	2	1	2	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr20:61513671C>T	ENST00000266070.4	-	16	3962	c.3637G>A	c.(3637-3639)Gaa>Aaa	p.E1213K	DIDO1_ENST00000395343.1_Missense_Mutation_p.E1213K	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1213					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GTCCGCTTTTCGTCCATCTTG	0.493													21	73					0	0	1	0	0	T	61513671	C	T	61513671	3	4	234	1	0	0	0	0	1	0	0	0	4550	893	31	1	3089	1	DIDO1	20	61513671	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	21013	61513671	1511849	631	11377											
YTHDF1	54915	broad.mit.edu	37	chr20	61834854	61834854	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taggtgtagctgctcccataCgcggagctctgggtctgctg	5	11	14	11	2	2	0	0	0	2	0	3	1	3	1	1	3	5	5	1	3	3	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr20:61834854C>T	ENST00000370339.3	-	4	779	c.438G>A	c.(436-438)gcG>gcA	p.A146A	YTHDF1_ENST00000370333.4_Silent_p.A96A|YTHDF1_ENST00000370334.4_Intron	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	146										NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						TGCTCCCATACGCGGAGCTCT	0.592													4	35					0	0	1	0	0	T	61834854	C	T	61834854	2	4	234	1	0	0	0	0	0	0	0	1	17558	523	19	1		1	YTHDF1	20	61834854	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	321183	61834854	1190666	632	11378											
CHRNA4	1137	broad.mit.edu	37	chr20	61981807	61981808	+	Frame_Shift_Ins	INS	-	-	G																															gaccgtgatgacgatggacaINSgggtgacgaagatcatggtg																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr20:61981807_61981808insG	ENST00000370263.4	-	5	1176_1177	c.955_956insC	c.(955-957)gtcfs	p.V319fs	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	319					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	GACGATGGACAGGGTGACGAAG	0.599													14	90	---	---	---	---						G	61981808	-	G	61981807	7	5	234	1	0	1	1	0	0	0	0	0	3407	188	7	0	935	0	CHRNA4	20	61981807	Frame_Shift_Ins	INS	-	TCGA-J9-A52C-01A-11D-A26M-08	146953	61981807	1043713	633	11379											
KCNQ2	3785	broad.mit.edu	37	chr20	62078121	62078121	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatgtagagggccccctcCgagctcttctcatactcctt	7	11	9	14	1	2	1	1	0	2	1	5	3	4	2	4	2	2	2	4	2	2	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr20:62078121C>T	ENST00000354587.3	-	2	542	c.366G>A	c.(364-366)tcG>tcA	p.S122S	KCNQ2_ENST00000357249.2_Silent_p.S122S|KCNQ2_ENST00000430658.1_Silent_p.S122S|KCNQ2_ENST00000370226.1_Silent_p.S122S|KCNQ2_ENST00000370224.1_Silent_p.S122S|KCNQ2_ENST00000344425.5_Silent_p.S122S|KCNQ2_ENST00000359689.1_Silent_p.S122S|KCNQ2_ENST00000370221.1_Silent_p.S122S|KCNQ2_ENST00000359125.2_Silent_p.S122S|KCNQ2_ENST00000344462.3_Silent_p.S122S|KCNQ2_ENST00000370222.3_Silent_p.S122S|KCNQ2_ENST00000360480.3_Silent_p.S122S			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	122					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	GGGCCCCCTCCGAGCTCTTCT	0.632													6	39					0	0	1	0	0	T	62078121	C	T	62078121	2	4	234	1	0	0	0	0	0	0	0	1	8127	639	23	1		1	KCNQ2	20	62078121	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	96314	62078121	947399	634	11380											
BAGE2	85319	broad.mit.edu	37	chr21	11058322	11058322	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtgcttacaaaatgcacatCgctgaaaggggtaaaggaga	16	7	12	6	1	0	2	0	1	0	1	1	3	0	2	0	3	3	4	0	3	6	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr21:11058322C>T	ENST00000470054.1	-	0	325									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)		AAATGCACATCGCTGAAAGGG	0.383													13	103					0	0	1	0	0	T	11058322	C	T	11058322	1	4	234	0	1	0	0	0	0	0	0	0	1290	898	31	1		1	BAGE2	21	11058322	RNA	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08		11058322	37071573	635	11381											
MORC3	23515	broad.mit.edu	37	chr21	37741614	37741614	+	Frame_Shift_Del	DEL	A	A	-																															aagtaccaagtttagttgttAaaaaagaagaaactgttgaa																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr21:37741614delA	ENST00000400485.1	+	15	2024	c.1948delA	c.(1948-1950)aafs	p.K651fs	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	651					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						TTTAGTTGTTAAAAAAGAAGA	0.448													15	68	---	---	---	---						-	37741614	A	-	37741614	7	5	234	1	0	1	0	1	0	0	0	0	9752	363	13	0	2006	0	MORC3	21	37741614	Frame_Shift_Del	DEL	A	TCGA-J9-A52C-01A-11D-A26M-08	26683292	37741614	10388281	636	11382											
HLCS	3141	broad.mit.edu	37	chr21	38302558	38302558	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccacaactcacctccgcaGctgacagcaagtaaagagga	14	4	9	14	1	1	2	1	1	0	1	2	3	2	3	3	1	3	4	3	1	4	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr21:38302558G>A	ENST00000399120.1	-	6	2402	c.1172C>T	c.(1171-1173)gCt>gTt	p.A391V	HLCS_ENST00000482273.1_5'UTR|HLCS_ENST00000336648.3_Missense_Mutation_p.A391V	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	391					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	CACCTCCGCAGCTGACAGCAA	0.498													8	51					0	0	1	0	0	A	38302558	G	A	38302558	3	1	234	1	0	0	0	0	1	0	0	0	7254	971	34	2	1036	2	HLCS	21	38302558	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	560944	38302558	9827337	637	11383											
DYRK1A	1859	broad.mit.edu	37	chr21	38862610	38862610	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacctaacacgaaagtttgcGcaacagatgtgcactgcact	14	8	8	11	2	0	1	0	0	0	1	0	2	0	1	1	0	6	4	1	0	4	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr21:38862610G>A	ENST00000339659.3	+	6	2241	c.771G>A	c.(769-771)gcG>gcA	p.A257A	DYRK1A_ENST00000455387.2_Silent_p.A38A|DYRK1A_ENST00000321219.8_Silent_p.A266A|DYRK1A_ENST00000398960.2_Silent_p.A266A|DYRK1A_ENST00000398956.2_Silent_p.A266A|DYRK1A_ENST00000338785.3_Silent_p.A266A|DYRK1A_ENST00000451934.1_Silent_p.A266A	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	266	Protein kinase.				nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						GAAAGTTTGCGCAACAGATGT	0.413													9	30					0	0	1	0	0	A	38862610	G	A	38862610	2	1	234	1	0	0	0	0	0	0	0	1	4880	1074	38	1		1	DYRK1A	21	38862610	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	560052	38862610	9267285	638	11384											
COL6A1	1291	broad.mit.edu	37	chr21	47407560	47407560	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggggctccggggcgaccccGgctttgaggtgagtggtgac	4	7	19	11	4	0	3	0	3	0	0	1	4	1	3	3	7	0	2	3	7	0	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr21:47407560G>A	ENST00000361866.3	+	8	910	c.796G>A	c.(796-798)Ggc>Agc	p.G266S		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	266	Triple-helical region.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	GGGCGACCCCGGCTTTGAGGT	0.682													10	62					0	0	1	0	0	A	47407560	G	A	47407560	3	1	234	1	0	0	0	0	1	0	0	0	3722	1116	39	1	826	1	COL6A1	21	47407560	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	8544950	47407560	722335	639	11385											
DGCR8	54487	broad.mit.edu	37	chr22	20073512	20073512	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagatgagagcccctctcCgctcccgtgtgggcccgcag	6	6	13	16	3	1	2	0	1	1	2	3	4	2	2	5	1	1	2	5	1	0	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:20073512C>T	ENST00000351989.3	+	2	455	c.26C>T	c.(25-27)cCg>cTg	p.P9L	DGCR8_ENST00000383024.2_Missense_Mutation_p.P9L|DGCR8_ENST00000407755.1_Missense_Mutation_p.P9L	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	9	Necessary for interaction with NCL.|Necessary for nuclear localization and retention.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					AGCCCCTCTCCGCTCCCGTGT	0.557													14	104					0	0	1	0	0	T	20073512	C	T	20073512	3	4	234	1	0	0	0	0	1	0	0	0	4492	652	23	1	28	1	DGCR8	22	20073512	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08		20073512	31231054	640	11386											
AIFM3	150209	broad.mit.edu	37	chr22	21330519	21330519	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggtggtcacagtggacGtgagaactaagaaggtcgtg	11	8	16	6	2	1	2	1	1	0	2	2	4	1	3	0	4	2	1	0	4	3	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:21330519G>A	ENST00000399167.2	+	10	1063	c.823G>A	c.(823-825)Gtg>Atg	p.V275M	AIFM3_ENST00000399163.2_Missense_Mutation_p.V275M|AIFM3_ENST00000333607.6_Missense_Mutation_p.V275M|AIFM3_ENST00000405089.1_Missense_Mutation_p.V281M|AIFM3_ENST00000335375.5_Missense_Mutation_p.V263M|AIFM3_ENST00000440238.2_Missense_Mutation_p.V275M|AIFM3_ENST00000465606.1_3'UTR	NM_144704.2	NP_653305.1			apoptosis-inducing factor, mitochondrion-associated, 3											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CACAGTGGACGTGAGAACTAA	0.607													3	17					0	0	1	0	0	A	21330519	G	A	21330519	3	1	234	1	0	0	0	0	1	0	0	0	425	1145	40	1	875	1	AIFM3	22	21330519	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1257007	21330519	29974047	641	11387											
EWSR1	2130	broad.mit.edu	37	chr22	29695246	29695246	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgtggaaaccagaacttcGcctggagaacagagtgcaac	13	7	12	9	1	0	3	0	0	0	3	1	5	0	4	2	2	5	2	2	2	4	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:29695246G>A	ENST00000397938.2	+	15	1922	c.1603G>A	c.(1603-1605)Gcc>Acc	p.A535T	EWSR1_ENST00000332050.6_Missense_Mutation_p.A462T|EWSR1_ENST00000332035.6_Missense_Mutation_p.A479T|EWSR1_ENST00000406548.1_Missense_Mutation_p.A534T|EWSR1_ENST00000414183.2_Missense_Mutation_p.A540T|EWSR1_ENST00000331029.7_Missense_Mutation_p.A497T	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	535					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CCAGAACTTCGCCTGGAGAAC	0.517			T	"FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"	"Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"								30	137					0	0	1	0	0	A	29695246	G	A	29695246	3	1	234	1	0	0	0	0	1	0	0	0	5323	1087	38	1	1778	1	EWSR1	22	29695246	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	8364727	29695246	21609320	642	11388											
AP1B1	162	broad.mit.edu	37	chr22	29754917	29754917	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcggatgcagcccatggtcCgcactgccagggctcggatg	6	6	15	14	4	0	0	0	0	0	0	2	2	1	2	3	4	3	3	3	4	0	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:29754917C>A	ENST00000357586.2	-	5	509	c.323G>T	c.(322-324)cGg>cTg	p.R108L	AP1B1_ENST00000402502.1_Missense_Mutation_p.R108L|AP1B1_ENST00000415447.1_Missense_Mutation_p.R108L|AP1B1_ENST00000432560.2_Missense_Mutation_p.R108L|AP1B1_ENST00000405198.1_Missense_Mutation_p.R108L|AP1B1_ENST00000317368.7_Missense_Mutation_p.R108L|AP1B1_ENST00000356015.2_Missense_Mutation_p.R108L	NM_001127.3	NP_001118.3	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	108					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GCCCATGGTCCGCACTGCCAG	0.622													3	17					1	1	1	1	0	A	29754917	C	A	29754917	3	1	234	1	0	0	0	0	1	0	0	0	727	652	23	4	2602	4	AP1B1	22	29754917	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	59671	29754917	21549649	643	11389											
NIPSNAP1	8508	broad.mit.edu	37	chr22	29965224	29965224	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacgtgttccagttgcccaCgagtgagcatgggtagtcct	7	10	12	12	2	0	1	0	1	0	0	2	2	2	1	4	1	2	4	4	1	1	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:29965224C>T	ENST00000216121.7	-	4	579	c.325G>A	c.(325-327)Gtg>Atg	p.V109M		NM_001202502.1|NM_003634.3	NP_001189431.1|NP_003625.2	Q9BPW8	NIPS1_HUMAN	nipsnap homolog 1 (C. elegans)	109								p.?(1)		large_intestine(2)|lung(2)|skin(1)	5						CAGTTGCCCACGAGTGAGCAT	0.637													3	29					0	0	1	0	0	T	29965224	C	T	29965224	3	4	234	1	0	0	0	0	1	0	0	0	10476	536	19	1	557	1	NIPSNAP1	22	29965224	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	210307	29965224	21339342	644	11390											
CABP7	164633	broad.mit.edu	37	chr22	30125184	30125184	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacagccgaggagtgtccCgtggatgtggagagtgagtg	8	7	19	7	2	0	2	0	1	0	1	1	6	1	4	2	4	1	1	2	4	0	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:30125184C>A	ENST00000216144.3	+	4	848	c.507C>A	c.(505-507)ccC>ccA	p.P169P		NM_182527.2	NP_872333.1	Q86V35	CABP7_HUMAN	calcium binding protein 7	169						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			lung(1)|skin(3)	4			OV - Ovarian serous cystadenocarcinoma(5;0.00442)|Epithelial(10;0.215)|all cancers(5;0.233)			AGGAGTGTCCCGTGGATGTGG	0.637													3	14					2.56e-06	2.5957e-06	1	1	0	A	30125184	C	A	30125184	2	1	234	1	0	0	0	0	0	0	0	1	2553	639	23	4		4	CABP7	22	30125184	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	159960	30125184	21179382	645	11391											
PATZ1	23598	broad.mit.edu	37	chr22	31723224	31723224	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttctctggcgtcttcaggtCgctggcatctgagaggtcac	5	12	12	12	2	5	1	2	1	3	1	7	2	5	1	0	4	0	2	0	4	0	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:31723224C>T	ENST00000266269.5	-	5	2346	c.1717G>A	c.(1717-1719)Gac>Aac	p.D573N	RP3-400N23.6_ENST00000440456.1_RNA|PATZ1_ENST00000405309.3_3'UTR|PATZ1_ENST00000351933.4_Missense_Mutation_p.D527N	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	573					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						GTCTTCAGGTCGCTGGCATCT	0.498													12	51					0	0	1	0	0	T	31723224	C	T	31723224	3	4	234	1	0	0	0	0	1	0	0	0	11523	884	31	1	350	1	PATZ1	22	31723224	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	1598040	31723224	19581342	646	11392											
EIF3D	8664	broad.mit.edu	37	chr22	36907719	36907719	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atgacgcagcgtaaaatgccCcaggcattctccacgctcag	11	7	9	14	3	2	1	1	1	1	0	3	1	2	1	3	1	2	4	3	1	2	2			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:36907719C>A	ENST00000216190.8	-	14	1834	c.1464G>T	c.(1462-1464)tgG>tgT	p.W488C	EIF3D_ENST00000462641.1_5'UTR|EIF3D_ENST00000541106.1_Missense_Mutation_p.W439C|EIF3D_ENST00000405442.1_Missense_Mutation_p.W488C	NM_003753.3	NP_003744.1	O15371	EIF3D_HUMAN	eukaryotic translation initiation factor 3, subunit D	488						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						GTAAAATGCCCCAGGCATTCT	0.542											OREG0026522	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	38					2.0095e-06	2.04037e-06	1	1	0	A	36907719	C	A	36907719	3	1	234	1	0	0	0	0	1	0	0	0	5042	624	22	4	190	4	EIF3D	22	36907719	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	5184495	36907719	14396847	647	11393											
KCTD17	79734	broad.mit.edu	37	chr22	37455445	37455445	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagctccacagcaccccaaaCgggctgagctcagagtccag	11	4	11	15	1	1	2	1	1	0	1	3	3	3	2	4	1	4	4	4	1	1	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:37455445C>T	ENST00000403888.3	+	5	601	c.600C>T	c.(598-600)aaC>aaT	p.N200N	KCTD17_ENST00000402077.3_Silent_p.N200N			Q8N5Z5	KCD17_HUMAN	potassium channel tetramerization domain containing 17	200						voltage-gated potassium channel complex	identical protein binding|voltage-gated potassium channel activity			NS(1)|breast(1)|endometrium(1)|lung(1)|prostate(1)	5						GCACCCCAAACGGGCTGAGCT	0.627													17	90					0	0	1	0	0	T	37455445	C	T	37455445	2	4	234	1	0	0	0	0	0	0	0	1	8148	535	19	1		1	KCTD17	22	37455445	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	547726	37455445	13849121	648	11394											
TMPRSS6	164656	broad.mit.edu	37	chr22	37480819	37480819	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtagtagctggggaagtacGgggtgctgaggacgccctgg	8	7	19	7	2	0	1	0	1	0	0	0	3	0	3	1	6	3	5	1	6	4	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:37480819G>A	ENST00000381792.2	-	9	1174	c.1034C>T	c.(1033-1035)cCg>cTg	p.P345L	TMPRSS6_ENST00000406725.1_Missense_Mutation_p.P345L|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.P345L|TMPRSS6_ENST00000346753.3_Missense_Mutation_p.P354L|TMPRSS6_ENST00000442782.2_Missense_Mutation_p.P354L			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	354	CUB 2.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						GGGGAAGTACGGGGTGCTGAG	0.647													3	4					0	0	1	0	0	A	37480819	G	A	37480819	3	1	234	1	0	0	0	0	1	0	0	0	16311	1116	39	1	1414	1	TMPRSS6	22	37480819	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	25374	37480819	13823747	649	11395											
CDC42EP1	11135	broad.mit.edu	37	chr22	37962558	37962558	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtccttcctcagcaaccacGgtggcagctccgggagcacc	7	6	11	17	3	1	0	1	0	0	0	4	1	4	1	5	3	4	4	5	3	1	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:37962558G>A	ENST00000249014.4	+	2	622	c.202G>A	c.(202-204)Ggt>Agt	p.G68S		NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN	CDC42 effector protein (Rho GTPase binding) 1	68					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|endomembrane system|Golgi apparatus|plasma membrane	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					CAGCAACCACGGTGGCAGCTC	0.677													7	27					0	0	1	0	0	A	37962558	G	A	37962558	3	1	234	1	0	0	0	0	1	0	0	0	3097	1116	39	1	204	1	CDC42EP1	22	37962558	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	481739	37962558	13342008	650	11396											
GGA1	26088	broad.mit.edu	37	chr22	38028044	38028044	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtatgaccagcacggcttcCgcatcctcttccattttgcc	6	13	7	15	2	1	1	0	1	1	0	4	1	4	1	5	1	2	4	5	1	1	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:38028044C>T	ENST00000406772.1	+	16	2003	c.1351C>T	c.(1351-1353)Cgc>Tgc	p.R451C	GGA1_ENST00000381756.5_Missense_Mutation_p.R541C|GGA1_ENST00000343632.4_Missense_Mutation_p.R524C|GGA1_ENST00000337437.4_Missense_Mutation_p.R491C|GGA1_ENST00000325180.8_Missense_Mutation_p.R437C	NM_001172688.1	NP_001166159.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	524	Unstructured hinge.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					GCACGGCTTCCGCATCCTCTT	0.647													10	54					0	0	1	0	0	T	38028044	C	T	38028044	3	4	234	1	0	0	0	0	1	0	0	0	6394	652	23	1	1694	1	GGA1	22	38028044	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	65486	38028044	13276522	651	11397											
APOBEC3B	9582	broad.mit.edu	37	chr22	39382073	39382073	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgagtcaggcaggagcccGcgtgacgatcatggactatg	9	7	15	10	3	2	2	2	2	0	0	2	5	2	4	1	3	1	2	1	3	1	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:39382073G>A	ENST00000402182.3	+	3	486	c.431G>A	c.(430-432)cGc>cAc	p.R144H	APOBEC3B_ENST00000333467.3_Missense_Mutation_p.R144H|APOBEC3B_ENST00000407298.3_Missense_Mutation_p.R144H			Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	144					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					GCAGGAGCCCGCGTGACGATC	0.587													17	72					0	0	1	0	0	A	39382073	G	A	39382073	3	1	234	1	0	0	0	0	1	0	0	0	787	1087	38	1	441	1	APOBEC3B	22	39382073	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	1354029	39382073	11922493	652	11398											
RPL3	6122	broad.mit.edu	37	chr22	39712828	39712830	+	In_Frame_Del	DEL	CTT	CTT	-																															ttgcagtacttggtaaaggcCttcttcttagatttatgcct																										TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:39712828_39712830delCTT	ENST00000216146.4	-	4	555_557	c.382_384delAAG	c.(382-384)del	p.K128del	RPL3_ENST00000401609.1_In_Frame_Del_p.K76del|RPL3_ENST00000465618.1_5'UTR	NM_000967.3|NM_001033853.1	NP_000958.1|NP_001029025.1	P39023	RL3_HUMAN	ribosomal protein L3	128					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Melanoma(58;0.04)					TGGTAAAGGCCTTCTTCTTAGAT	0.547											OREG0026575	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	80	---	---	---	---						-	39712830	CTT	-	39712828	7	5	234	1	0	1	0	1	0	0	0	0	13631	695	24	0	855	0	RPL3	22	39712828	In_Frame_Del	DEL	CTT	TCGA-J9-A52C-01A-11D-A26M-08	330755	39712828	11591738	653	11399											
MKL1	57591	broad.mit.edu	37	chr22	40815315	40815315	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcttgataggctcgaaggCgctcaatcagctcagttttg	8	12	12	9	2	4	1	3	1	1	0	5	2	4	1	0	3	1	4	0	3	3	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:40815315C>T	ENST00000396617.3	-	12	1717	c.1127G>A	c.(1126-1128)cGc>cAc	p.R376H	MKL1_ENST00000407029.1_Missense_Mutation_p.R376H|MKL1_ENST00000402042.1_Missense_Mutation_p.R326H|MKL1_ENST00000355630.3_Missense_Mutation_p.R376H			Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	376	SAP.				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GGCTCGAAGGCGCTCAATCAG	0.607			T	RBM15	acute megakaryocytic leukemia								4	32					0	0	1	0	0	T	40815315	C	T	40815315	3	4	234	1	0	0	0	0	1	0	0	0	9649	768	27	1	1684	1	MKL1	22	40815315	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	1102487	40815315	10489251	654	11400											
SAMM50	25813	broad.mit.edu	37	chr22	44371976	44371976	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacactgtcaagtgggaaggCgtatggcgagaactgggctg	10	7	16	8	2	1	1	1	0	0	1	1	3	1	2	0	4	1	2	0	4	4	1	rs34262262		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:44371976C>T	ENST00000350028.4	+	8	847	c.690C>T	c.(688-690)ggC>ggT	p.G230G	SAMM50_ENST00000396202.3_Silent_p.G20G	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	230					protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding			endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				AGTGGGAAGGCGTATGGCGAG	0.483													5	31					0	0	1	0	0	T	44371976	C	T	44371976	2	4	234	1	0	0	0	0	0	0	0	1	13881	755	27	1		1	SAMM50	22	44371976	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	3556661	44371976	6932590	655	11401											
SBF1	6305	broad.mit.edu	37	chr22	50892978	50892978	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggcgtcaggctgggcccgcGggcagctgtcgtaacagggc	5	6	18	12	4	1	0	1	0	0	0	2	0	1	0	1	5	2	4	1	5	1	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chr22:50892978G>A	ENST00000380817.2	-	36	5189	c.5006C>T	c.(5005-5007)cCg>cTg	p.P1669L	SBF1_ENST00000390679.3_Missense_Mutation_p.P1643L|SBF1_ENST00000348911.6_Missense_Mutation_p.P1644L	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	1643					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CTGGGCCCGCGGGCAGCTGTC	0.701													14	69					0	0	1	0	0	A	50892978	G	A	50892978	3	1	234	1	0	0	0	0	1	0	0	0	13911	1116	39	1	699	1	SBF1	22	50892978	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	6521002	50892978	411588	656	11402											
ASMTL	8623	broad.mit.edu	37	chrX	1561136	1561136	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttggcggtctccatggcgtaCccatacggagtagcgaagga	9	8	14	10	4	1	0	0	0	1	0	2	3	1	2	2	5	3	2	2	5	4	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrX:1561136C>T	ENST00000416733.2	-	2	202	c.5G>A	c.(4-6)gGt>gAt	p.G2D	ASMTL_ENST00000534940.1_5'UTR|ASMTL_ENST00000381317.3_Silent_p.G56G|ASMTL_ENST00000381333.4_Silent_p.G56G			O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	0					melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCATGGCGTACCCATACGGAG	0.567													16	90					0	0	1	0	0	T	1561136	C	T	1561136	3	4	234	1	0	0	0	0	1	0	0	0	1045	494	18	2	1745	2	ASMTL	23	1561136	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08		1561136	153709424	657	11403											
ASMT	438	broad.mit.edu	37	chrX	1743283	1743283	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggggccacctggcagaCgccgtgaggtgggggctgcc	4	6	19	12	2	0	2	0	1	0	1	0	2	0	2	4	6	2	3	4	6	0	0	rs151095769	byFrequency	TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrX:1743283C>T	ENST00000381241.3	+	3	565	c.366C>T	c.(364-366)gaC>gaT	p.D122D	ASMT_ENST00000381229.4_Silent_p.D122D|ASMT_ENST00000381233.3_Silent_p.D122D	NM_001171038.1|NM_004043.2	NP_001164509.1|NP_004034.2	P46597	HIOM_HUMAN	acetylserotonin O-methyltransferase	122					melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ACCTGGCAGACGCCGTGAGGT	0.672													10	56					0	0	1	0	0	T	1743283	C	T	1743283	2	4	234	1	0	0	0	0	0	0	0	1	1044	535	19	1		1	ASMT	23	1743283	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	182147	1743283	153527277	658	11404											
PRKX	5613	broad.mit.edu	37	chrX	3592735	3592735	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgacgtcgggaatgctcAtcaccttgagggcgaagaaa	12	7	14	8	3	2	3	2	2	0	1	3	6	2	5	1	3	1	1	1	3	3	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrX:3592735A>G	ENST00000262848.5	-	2	593	c.239T>C	c.(238-240)aTg>aCg	p.M80T		NM_005044.4	NP_005035.1	P51817	PRKX_HUMAN	protein kinase, X-linked	80	Protein kinase.						ATP binding|cAMP-dependent protein kinase activity			kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(2)	12		all_lung(23;0.000396)|Lung NSC(23;0.00123)				GGGAATGCTCATCACCTTGAG	0.552													19	38					0	0	1	0	0	G	3592735	A	G	3592735	3	3	234	1	0	0	0	0	1	0	0	0	12579	217	8	3	865	3	PRKX	23	3592735	Missense_Mutation	SNP	A	TCGA-J9-A52C-01A-11D-A26M-08	1849452	3592735	151677825	659	11405											
NLGN4X	57502	broad.mit.edu	37	chrX	5821330	5821330	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagaagtaggtgggggagccGtactgcgcgtgcaggtcggc	7	7	19	8	4	0	1	0	0	0	1	1	2	0	2	1	5	4	3	1	5	4	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrX:5821330G>A	ENST00000381095.3	-	5	2016	c.1389C>T	c.(1387-1389)taC>taT	p.Y463Y	NLGN4X_ENST00000381092.1_Silent_p.Y463Y|NLGN4X_ENST00000275857.6_Silent_p.Y463Y|NLGN4X_ENST00000538097.1_Silent_p.Y463Y|NLGN4X_ENST00000381093.2_Silent_p.Y483Y	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	463					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TGGGGGAGCCGTACTGCGCGT	0.612													7	17					0	0	1	0	0	A	5821330	G	A	5821330	2	1	234	1	0	0	0	0	0	0	0	1	10511	1140	40	1		1	NLGN4X	23	5821330	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	2228595	5821330	149449230	660	11406											
MAGEB2	4113	broad.mit.edu	37	chrX	30237395	30237395	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctgaatatgttgggagtctAtgatggagaggagcactcag	11	10	14	6	0	2	3	1	2	1	1	2	6	2	5	1	3	1	2	1	3	3	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrX:30237395A>G	ENST00000378988.4	+	2	799	c.698A>G	c.(697-699)tAt>tGt	p.Y233C		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	233	MAGE.						protein binding			breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						TTGGGAGTCTATGATGGAGAG	0.483													3	9					0	0	1	0	0	G	30237395	A	G	30237395	3	3	234	1	0	0	0	0	1	0	0	0	9226	449	16	3	700	3	MAGEB2	23	30237395	Missense_Mutation	SNP	A	TCGA-J9-A52C-01A-11D-A26M-08	24416065	30237395	125033165	661	11407											
ARAF	369	broad.mit.edu	37	chrX	47428238	47428238	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgcatgtggccgacacaCgcttcgacatggtccagctc	8	8	10	15	3	0	0	0	0	0	0	3	2	1	0	3	2	2	3	3	2	0	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrX:47428238C>T	ENST00000377045.4	+	11	1392	c.1198C>T	c.(1198-1200)Cgc>Tgc	p.R400C	ARAF_ENST00000290277.6_3'UTR	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN	v-raf murine sarcoma 3611 viral oncogene homolog	400	Protein kinase.				intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity			biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	GGCCGACACACGCTTCGACAT	0.632											OREG0019759	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	6					0	0	1	0	0	T	47428238	C	T	47428238	3	4	234	1	0	0	0	0	1	0	0	0	834	536	19	1	1236	1	ARAF	23	47428238	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	17190843	47428238	107842322	662	11408											
IGBP1	3476	broad.mit.edu	37	chrX	69370144	69370144	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggaaatatggagcattaccGgatcagggaatagccaaggc	14	6	13	8	2	1	0	1	0	0	0	1	4	1	4	2	5	3	1	2	5	6	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrX:69370144G>A	ENST00000342206.6	+	5	1342	c.843G>A	c.(841-843)ccG>ccA	p.P281P	IGBP1_ENST00000356413.4_Silent_p.P281P			P78318	IGBP1_HUMAN	immunoglobulin (CD79A) binding protein 1	281					B cell activation|negative regulation of caspase activity|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|regulation of microtubule-based movement|response to interleukin-1|response to tumor necrosis factor|signal transduction	cytoplasm	protein phosphatase type 2A regulator activity			kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(2)	11						GAGCATTACCGGATCAGGGAA	0.463													7	3					0	0	1	0	0	A	69370144	G	A	69370144	2	1	234	1	0	0	0	0	0	0	0	1	7611	1103	39	1		1	IGBP1	23	69370144	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	21941906	69370144	85900416	663	11409											
GPRASP1	9737	broad.mit.edu	37	chrX	101910582	101910582	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagaagagacaatattcGggtcctggttttgggctgaa	11	11	13	6	1	0	4	0	2	0	2	2	5	1	4	1	3	0	2	1	3	5	4			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrX:101910582G>A	ENST00000537097.1	+	6	2554	c.1741G>A	c.(1741-1743)Ggg>Agg	p.G581R	GPRASP1_ENST00000361600.5_Missense_Mutation_p.G581R|GPRASP1_ENST00000444152.1_Missense_Mutation_p.G581R|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000415986.1_Missense_Mutation_p.G581R	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	581	Glu-rich.					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						GACAATATTCGGGTCCTGGTT	0.507													24	52					0	0	1	0	0	A	101910582	G	A	101910582	3	1	234	1	0	0	0	0	1	0	0	0	6763	1116	39	1	1743	1	GPRASP1	23	101910582	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	32540438	101910582	53359978	664	11410											
IGSF1	3547	broad.mit.edu	37	chrX	130408141	130408141	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaccacgattaggctacttCggacaatgttccctacagtg	10	10	8	13	2	0	0	0	0	0	0	2	2	1	1	3	2	2	2	3	2	4	5			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrX:130408141C>T	ENST00000370904.1	-	25	4674	c.3764G>A	c.(3763-3765)cGa>cAa	p.R1255Q	IGSF1_ENST00000361420.3_Missense_Mutation_p.R1264Q|IGSF1_ENST00000370903.3_Missense_Mutation_p.R1269Q|IGSF1_ENST00000370910.1_Missense_Mutation_p.R1255Q			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1264					regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TAGGCTACTTCGGACAATGTT	0.517													23	64					0	0	1	0	0	T	130408141	C	T	130408141	3	4	234	1	0	0	0	0	1	0	0	0	7640	884	31	1	227	1	IGSF1	23	130408141	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	28497559	130408141	24862419	665	11411											
ARHGEF6	9459	broad.mit.edu	37	chrX	135790919	135790919	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtaaagatgtaacctccaCagtactcagactgaaaaaaa	19	7	6	9	0	1	3	1	1	0	2	2	3	2	3	2	0	2	3	2	0	7	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrX:135790919C>T	ENST00000250617.6	-	8	2043	c.838G>A	c.(838-840)Gtg>Atg	p.V280M	ARHGEF6_ENST00000535227.1_Missense_Mutation_p.V153M|ARHGEF6_ENST00000370620.1_Missense_Mutation_p.V126M|ARHGEF6_ENST00000370622.1_Missense_Mutation_p.V126M	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	280	DH.				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					GTAACCTCCACAGTACTCAGA	0.358													6	13					0	0	1	0	0	T	135790919	C	T	135790919	3	4	234	1	0	0	0	0	1	0	0	0	907	478	17	2	1552	2	ARHGEF6	23	135790919	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	5382778	135790919	19479641	666	11412											
MAGEA6	4105	broad.mit.edu	37	chrX	151869697	151869697	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagtatcgagccagggagccGgtcacaaaggcagaaatgct	14	5	13	9	2	1	1	1	0	0	1	2	3	1	2	2	3	3	3	2	3	4	1	rs144510184		TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrX:151869697G>A	ENST00000329342.5	+	3	612	c.387G>A	c.(385-387)ccG>ccA	p.P129P		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	129	MAGE.						protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CCAGGGAGCCGGTCACAAAGG	0.522													21	140					0	0	1	0	0	A	151869697	G	A	151869697	2	1	234	1	0	0	0	0	0	0	0	1	9218	1103	39	1		1	MAGEA6	23	151869697	Silent	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	16078778	151869697	3400863	667	11413											
ATP2B3	492	broad.mit.edu	37	chrX	152807165	152807165	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaggcgcagaagatgagggcGaggccgaagctggctggatc	10	4	19	8	3	0	3	0	1	0	2	1	7	0	4	1	5	1	3	1	5	2	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrX:152807165G>A	ENST00000370186.1	+	4	771	c.445G>A	c.(445-447)Gag>Aag	p.E149K	ATP2B3_ENST00000349466.2_Missense_Mutation_p.E149K|ATP2B3_ENST00000370181.2_Missense_Mutation_p.E149K|ATP2B3_ENST00000263519.4_Missense_Mutation_p.E149K|ATP2B3_ENST00000393842.1_Missense_Mutation_p.E149K|ATP2B3_ENST00000359149.3_Missense_Mutation_p.E149K			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	149					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGATGAGGGCGAGGCCGAAGC	0.602													15	26					0	0	1	0	0	A	152807165	G	A	152807165	3	1	234	1	0	0	0	0	1	0	0	0	1140	1059	37	1	455	1	ATP2B3	23	152807165	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	937468	152807165	2463395	668	11414											
ATP2B3	492	broad.mit.edu	37	chrX	152821637	152821637	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccggggaggacttcctgtGcctagaagggaaggagttca	9	7	16	9	1	1	1	1	0	0	1	2	5	2	5	3	5	1	1	3	5	3	3			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrX:152821637G>A	ENST00000370186.1	+	12	2473	c.2147G>A	c.(2146-2148)tGc>tAc	p.C716Y	ATP2B3_ENST00000349466.2_Missense_Mutation_p.C730Y|ATP2B3_ENST00000370181.2_Missense_Mutation_p.C716Y|ATP2B3_ENST00000263519.4_Missense_Mutation_p.C730Y|ATP2B3_ENST00000393842.1_Missense_Mutation_p.C716Y|ATP2B3_ENST00000359149.3_Missense_Mutation_p.C730Y			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	730					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GACTTCCTGTGCCTAGAAGGG	0.637													12	22					0	0	1	0	0	A	152821637	G	A	152821637	3	1	234	1	0	0	0	0	1	0	0	0	1140	1319	46	2	2235	2	ATP2B3	23	152821637	Missense_Mutation	SNP	G	TCGA-J9-A52C-01A-11D-A26M-08	14472	152821637	2448923	669	11415											
PLXNB3	5365	broad.mit.edu	37	chrX	153033811	153033811	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagctcgggcagccggtcagCgccgtggcagctctccaggc	6	5	15	15	4	2	0	1	0	1	0	4	0	2	0	3	4	4	4	3	4	1	0			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrX:153033811C>T	ENST00000538966.1	+	5	1534	c.1263C>T	c.(1261-1263)agC>agT	p.S421S	PLXNB3_ENST00000361971.5_Silent_p.S398S|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538282.1_Silent_p.S51S|PLXNB3_ENST00000538776.1_Silent_p.S51S	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	398	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					AGCCGGTCAGCGCCGTGGCAG	0.692													6	22					0	0	1	0	0	T	153033811	C	T	153033811	2	4	234	1	0	0	0	0	0	0	0	1	12173	767	27	1		1	PLXNB3	23	153033811	Silent	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	212174	153033811	2236749	670	11416											
SLC10A3	8273	broad.mit.edu	37	chrX	153716036	153716036	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacctcaatgctgaccgtcCgccgctgggccactggcagc	6	7	11	17	3	1	1	1	1	0	0	2	1	2	1	5	2	3	3	5	2	2	1			TCGA-J9-A52C-01A-11D-A26M-08	TCGA-J9-A52C-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	da29cb88-e7bf-476d-be89-e6799c619a46	4fd1a675-838a-423e-99c4-71af79e6b48e	g.chrX:153716036C>T	ENST00000263512.4	-	2	1742	c.1244G>A	c.(1243-1245)cGg>cAg	p.R415Q	SLC10A3_ENST00000393586.1_Missense_Mutation_p.R470Q|SLC10A3_ENST00000369649.4_Missense_Mutation_p.R386Q|SLC10A3_ENST00000393587.4_Missense_Mutation_p.R415Q	NM_019848.3	NP_062822.1	P09131	P3_HUMAN	solute carrier family 10, member 3	415					organic anion transport	integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCTGACCGTCCGCCGCTGGGC	0.642													3	19					0	0	1	0	0	T	153716036	C	T	153716036	3	4	234	1	0	0	0	0	1	0	0	0	14430	652	23	1	193	1	SLC10A3	23	153716036	Missense_Mutation	SNP	C	TCGA-J9-A52C-01A-11D-A26M-08	682225	153716036	1554524	671	11417											
KDM4A	9682	broad.mit.edu	37	chr1	44163650	44163650	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agtcaactttgatgatggctCcttcagcgacaatctttatc	10	14	7	10	1	3	2	2	2	1	0	5	3	4	2	1	1	2	1	1	1	3	4			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr1:44163650C>T	ENST00000372396.3	+	19	2941	c.2807C>T	c.(2806-2808)tCc>tTc	p.S936F		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	936	Tudor 1.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						GATGATGGCTCCTTCAGCGAC	0.483													35	27					0	0	1	0	0	T	44163650	C	T	44163650	3	4	235	1	0	0	0	0	1	0	0	0	8172	855	30	2	2877	2	KDM4A	1	44163650	Missense_Mutation	SNP	C	TCGA-J9-A52D-01A-11D-A29Q-08		44163650	205086971	1	11418											
CFH	3075	broad.mit.edu	37	chr1	196645165	196645165	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accgtgaatgtgacacagatGgatggaccaatgatattcct	13	10	10	8	1	0	4	0	3	0	1	1	6	1	6	3	2	0	0	3	2	3	2			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr1:196645165G>A	ENST00000367429.4	+	4	637	c.397G>A	c.(397-399)Gga>Aga	p.G133R	CFH_ENST00000439155.2_Missense_Mutation_p.G133R|CFH_ENST00000359637.2_Missense_Mutation_p.G133R	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	133	Sushi 2.				complement activation, alternative pathway	extracellular space		p.G133R(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TGACACAGATGGATGGACCAA	0.289													27	34					0	0	1	0	0	A	196645165	G	A	196645165	3	1	235	1	0	0	0	0	1	0	0	0	3305	1349	47	2	411	2	CFH	1	196645165	Missense_Mutation	SNP	G	TCGA-J9-A52D-01A-11D-A29Q-08	152481515	196645165	52605456	2	11419											
NBAS	51594	broad.mit.edu	37	chr2	15432834	15432834	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtcttcaggccaggcttcGtgctcatgtcgagtcacatg	7	11	12	11	2	4	0	3	0	1	0	6	1	4	0	1	3	1	2	1	3	0	2			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr2:15432834G>A	ENST00000281513.5	-	41	4879	c.4854C>T	c.(4852-4854)caC>caT	p.H1618H	NBAS_ENST00000441750.1_Silent_p.H1498H	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1618										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GCCAGGCTTCGTGCTCATGTC	0.463													26	37					0	0	1	0	0	A	15432834	G	A	15432834	2	1	235	1	0	0	0	0	0	0	0	1	10234	1136	40	1		1	NBAS	2	15432834	Silent	SNP	G	TCGA-J9-A52D-01A-11D-A29Q-08		15432834	227766539	3	11420											
SPTBN1	0	broad.mit.edu	37	chr2	54882330	54882330	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctgttggcgagaaaacaCtatgcatctgaggaggtagg	11	9	13	8	1	1	2	0	1	1	1	2	4	2	3	1	4	2	3	1	4	4	3			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr2:54882330C>G	ENST00000333896.5	+	27	6292	c.5907C>G	c.(5905-5907)caC>caG	p.H1969Q	SPTBN1_ENST00000356805.4_Missense_Mutation_p.H1982Q	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1982	Interaction with ANK2.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CGAGAAAACACTATGCATCTG	0.403													13	20					0	0	1	0	0	G	54882330	C	G	54882330	3	3	235	1	0	0	0	0	1	0	0	0	15175	564	20	4	6165	4	SPTBN1	2	54882330	Missense_Mutation	SNP	C	TCGA-J9-A52D-01A-11D-A29Q-08	39449496	54882330	188317043	4	11421											
CTDSP1	58190	broad.mit.edu	37	chr2	219269079	219269081	+	In_Frame_Del	DEL	CTT	CTT	-																															gagctccacgacctcctcccCttcttcgagcaactcagccg																										TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr2:219269079_219269081delCTT	ENST00000273062.2	+	7	1053_1055	c.717_719delCTT	c.(715-720)ccc>cc	p.PF239del	CTDSP1_ENST00000443891.1_In_Frame_Del_p.PF238del|CTDSP1_ENST00000488627.1_3'UTR	NM_021198.2|NM_182642.2	NP_067021.1|NP_872580.1	Q9GZU7	CTDS1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 1	239	FCP1 homology.				protein dephosphorylation|regulation of transcription from RNA polymerase II promoter	nucleus	CTD phosphatase activity|metal ion binding|protein binding			NS(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	8		Renal(207;0.0915)		Epithelial(149;9.96e-07)|all cancers(144;0.00017)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACCTCCTCCCCTTCTTCGAGCAA	0.626													66	103	---	---	---	---						-	219269081	CTT	-	219269079	7	5	235	1	0	1	0	1	0	0	0	0	4027	668	24	0	743	0	CTDSP1	2	219269079	In_Frame_Del	DEL	CTT	TCGA-J9-A52D-01A-11D-A29Q-08	164386749	219269079	23930294	5	11422											
TLL1	7092	broad.mit.edu	37	chr4	167020676	167020676	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggtcgattctgtggatcCggggtaaatataccaccaac	10	11	10	10	2	1	0	0	0	1	0	3	2	2	1	3	4	2	1	3	4	5	5	rs115401178	by1000genomes	TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr4:167020676C>T	ENST00000061240.2	+	20	3551	c.2904C>T	c.(2902-2904)tcC>tcT	p.S968S	TLL1_ENST00000507499.1_Silent_p.S991S	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	968	CUB 5.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TCTGTGGATCCGGGGTAAATA	0.423													64	64					0	0	1	0	0	T	167020676	C	T	167020676	2	4	235	1	0	0	0	0	0	0	0	1	16005	639	23	1		1	TLL1	4	167020676	Silent	SNP	C	TCGA-J9-A52D-01A-11D-A29Q-08		167020676	24133600	6	11423											
CDH12	1010	broad.mit.edu	37	chr5	21975394	21975394	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctaggctccttattgcatgaAtgtcccctgtggtttcatca	7	15	8	11	0	2	1	2	1	0	0	4	1	4	1	3	2	1	3	3	2	3	4			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr5:21975394A>G	ENST00000382254.1	-	6	1418	c.332T>C	c.(331-333)aTt>aCt	p.I111T	CDH12_ENST00000504376.2_Missense_Mutation_p.I111T|CDH12_ENST00000522262.1_Missense_Mutation_p.I111T	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	111	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TATTGCATGAATGTCCCCTGT	0.493										HNSCC(59;0.17)			8	80					0	0	1	0	0	G	21975394	A	G	21975394	3	3	235	1	0	0	0	0	1	0	0	0	3120	101	4	3	2092	3	CDH12	5	21975394	Missense_Mutation	SNP	A	TCGA-J9-A52D-01A-11D-A29Q-08		21975394	158939866	7	11424											
RXFP3	51289	broad.mit.edu	37	chr5	33937288	33937288	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaacgctcttgacttcaaatGgcccttcggcaaggccatgt	9	10	10	12	2	2	1	1	1	1	0	3	2	2	1	2	3	1	2	2	3	3	3			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr5:33937288G>A	ENST00000330120.3	+	1	798	c.443G>A	c.(442-444)tGg>tAg	p.W148*		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	148						integral to plasma membrane	N-formyl peptide receptor activity			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						GACTTCAAATGGCCCTTCGGC	0.552													63	63					0	0	1	0	0	A	33937288	G	A	33937288	4	1	235	1	0	0	0	0	0	1	0	0	13813	1357	47	2	445	2	RXFP3	5	33937288	Nonsense_Mutation	SNP	G	TCGA-J9-A52D-01A-11D-A29Q-08	11961894	33937288	146977972	8	11425											
CDC20B	166979	broad.mit.edu	37	chr5	54442517	54442518	+	Frame_Shift_Ins	INS	-	-	TC																															atccggaagcttctgggaggINStaggtggttgactgctcttc																										TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr5:54442517_54442518insTC	ENST00000334206.5	-	3	469_470	c.293_294insGA	c.(292-294)tctfs	p.S98fs	CDC20B_ENST00000322374.6_Frame_Shift_Ins_p.S98fs|CDC20B_ENST00000296733.1_Frame_Shift_Ins_p.S98fs|CDC20B_ENST00000381375.2_Frame_Shift_Ins_p.S98fs|CDC20B_ENST00000331730.3_Frame_Shift_Ins_p.S77fs			Q86Y33	CD20B_HUMAN	cell division cycle 20B	98										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			CTTCTGGGAGGTAGGTGGTTGA	0.55											OREG0016610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	33	45	---	---	---	---						TC	54442518	-	TC	54442517	7	5	235	1	0	1	1	0	0	0	0	0	3082	1256	44	0	1305	0	CDC20B	5	54442517	Frame_Shift_Ins	INS	-	TCGA-J9-A52D-01A-11D-A29Q-08	20505229	54442517	126472743	9	11426											
POC5	134359	broad.mit.edu	37	chr5	74973609	74973609	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggactcaccactgtgactGgatgatgtttttccacaaca	10	12	9	10	0	1	2	1	2	0	0	2	4	2	4	2	2	1	1	2	2	1	2			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr5:74973609G>A	ENST00000428202.2	-	11	1763	c.1574C>T	c.(1573-1575)cCa>cTa	p.P525L	POC5_ENST00000446329.2_Missense_Mutation_p.P500L|POC5_ENST00000510798.1_Intron|POC5_ENST00000514838.2_Missense_Mutation_p.P497L|POC5_ENST00000380475.2_Intron	NM_001099271.1	NP_001092741.1	Q8NA72	POC5_HUMAN	POC5 centriolar protein	525					cell cycle	centriole				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CACTGTGACTGGATGATGTTT	0.373													4	38					0	0	1	0	0	A	74973609	G	A	74973609	3	1	235	1	0	0	0	0	1	0	0	0	12225	1348	47	2	161	2	POC5	5	74973609	Missense_Mutation	SNP	G	TCGA-J9-A52D-01A-11D-A29Q-08	20531092	74973609	105941651	10	11427											
CHD1	1105	broad.mit.edu	37	chr5	98229277	98229277	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggtgtgcttcatcaacacCtataaatgcccaatttagac	12	12	6	11	1	2	1	2	0	0	1	3	1	2	1	2	1	3	1	2	1	6	5			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr5:98229277C>G	ENST00000284049.3	-	13	1983	c.1834G>C	c.(1834-1836)Ggt>Cgt	p.G612R		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	612	Helicase ATP-binding.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TCATCAACACCTATAAATGCC	0.333													45	5					0	0	1	0	0	G	98229277	C	G	98229277	3	3	235	1	0	0	0	0	1	0	0	0	3345	681	24	4	3390	4	CHD1	5	98229277	Missense_Mutation	SNP	C	TCGA-J9-A52D-01A-11D-A29Q-08	23255668	98229277	82685983	11	11428											
MYOT	9499	broad.mit.edu	37	chr5	137219176	137219176	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtctgagaagggtcttcattCactcatctttgaagtagtca	10	14	9	8	0	7	2	4	2	3	1	7	3	7	2	0	1	0	1	0	1	3	4			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr5:137219176C>T	ENST00000239926.4	+	7	1294	c.920C>T	c.(919-921)tCa>tTa	p.S307L	RP11-381K20.2_ENST00000508281.2_RNA|MYOT_ENST00000509812.1_Intron|MYOT_ENST00000421631.2_Missense_Mutation_p.S123L|MYOT_ENST00000515645.1_Missense_Mutation_p.S192L|RP11-381K20.2_ENST00000514616.1_RNA	NM_006790.2	NP_006781.1	Q9UBF9	MYOTI_HUMAN	myotilin	307	Ig-like C2-type 1.|Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.				muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle			cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GGTCTTCATTCACTCATCTTT	0.453													31	55					0	0	1	0	0	T	137219176	C	T	137219176	3	4	235	1	0	0	0	0	1	0	0	0	10142	838	29	2	942	2	MYOT	5	137219176	Missense_Mutation	SNP	C	TCGA-J9-A52D-01A-11D-A29Q-08	38989899	137219176	43696084	12	11429											
TULP1	7287	broad.mit.edu	37	chr6	35480000	35480000	+	Frame_Shift_Del	DEL	G	G	-																															cccgtggggcagggggattcGggggcctccgtcctcttctt																										TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr6:35480000delG	ENST00000229771.6	-	3	226	c.147delC	c.(145-147)ccfs	p.P49fs	TULP1_ENST00000322263.4_Frame_Shift_Del_p.P49fs	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	49					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						AGGGGGATTCGGGGGCCTCCG	0.721													2	4	---	---	---	---						-	35480000	G	-	35480000	7	5	235	1	0	1	0	1	0	0	0	0	16835	1103	39	0	1533	0	TULP1	6	35480000	Frame_Shift_Del	DEL	G	TCGA-J9-A52D-01A-11D-A29Q-08		35480000	135635067	13	11430											
ELN	2006	broad.mit.edu	37	chr7	73475451	73475451	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacctggagccctggctgccGctaaagcagccaaatatggt	10	8	11	12	1	0	0	0	0	0	0	0	1	0	1	4	3	5	3	4	3	5	3			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr7:73475451G>A	ENST00000252034.7	+	26	2167	c.1768G>A	c.(1768-1770)Gct>Act	p.A590T	ELN_ENST00000380562.4_Missense_Mutation_p.A596T|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000429192.1_Missense_Mutation_p.A576T|ELN_ENST00000414324.1_Missense_Mutation_p.A566T|ELN_ENST00000380575.4_Missense_Mutation_p.A561T|ELN_ENST00000380576.5_Missense_Mutation_p.A571T|ELN_ENST00000357036.5_Missense_Mutation_p.A595T|ELN_ENST00000380584.4_Missense_Mutation_p.A542T|ELN_ENST00000320399.6_Missense_Mutation_p.A623T|ELN_ENST00000320492.7_Missense_Mutation_p.A509T|ELN_ENST00000358929.4_Missense_Mutation_p.A658T|ELN_ENST00000380553.4_Missense_Mutation_p.A454T|ELN_ENST00000458204.1_Missense_Mutation_p.A580T|ELN_ENST00000445912.1_Missense_Mutation_p.A590T	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin	652	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	CCTGGCTGCCGCTAAAGCAGC	0.592			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"						47	44					0	0	1	0	0	A	73475451	G	A	73475451	3	1	235	1	0	0	0	0	1	0	0	0	5099	1087	38	1	1885	1	ELN	7	73475451	Missense_Mutation	SNP	G	TCGA-J9-A52D-01A-11D-A29Q-08		73475451	85663212	14	11431											
LRRN3	54674	broad.mit.edu	37	chr7	110764027	110764027	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgttttgcgtggacccacCtgaattccaaggtcagaatg	10	11	10	10	1	1	2	1	1	0	1	2	3	2	3	3	2	1	1	3	2	3	3			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr7:110764027C>T	ENST00000451085.1	+	4	2245	c.1199C>T	c.(1198-1200)cCt>cTt	p.P400L	IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000489381.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.P400L|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000415362.1_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.P400L|IMMP2L_ENST00000331762.3_Intron	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	400	LRRCT.					integral to membrane		p.P399fs*16(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		GTGGACCCACCTGAATTCCAA	0.443													7	62					0	0	1	0	0	T	110764027	C	T	110764027	3	4	235	1	0	0	0	0	1	0	0	0	9081	681	24	2	1201	2	LRRN3	7	110764027	Missense_Mutation	SNP	C	TCGA-J9-A52D-01A-11D-A29Q-08	37288576	110764027	48374636	15	11432											
IFNW1	3467	broad.mit.edu	37	chr9	21141119	21141119	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttctctttcaggtagacacGgattccctggaagtacctcc	8	12	8	13	1	2	1	1	0	1	1	5	3	4	3	3	3	1	2	3	3	3	5	rs141528866		TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr9:21141119G>T	ENST00000380229.2	-	1	1025	c.451C>A	c.(451-453)Cgt>Agt	p.R151S		NM_002177.1	NP_002168.1	P05000	IFNW1_HUMAN	interferon, omega 1	151					cell cycle arrest|defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|lung(2)|ovary(1)	5				GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		AGGTAGACACGGATTCCCTGG	0.483													43	36					3.09479e-21	3.47374e-21	1	1	0	T	21141119	G	T	21141119	3	4	235	1	0	0	0	0	1	0	0	0	7596	1116	39	4	140	4	IFNW1	9	21141119	Missense_Mutation	SNP	G	TCGA-J9-A52D-01A-11D-A29Q-08		21141119	120072312	16	11433											
ZNF618	114991	broad.mit.edu	37	chr9	116811992	116811992	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggtgcacccggcccacaagGtggccatgatcctggacccg	8	5	13	15	2	0	1	0	1	0	0	1	2	1	2	5	5	1	1	5	5	1	0			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr9:116811992G>T	ENST00000288466.7	+	14	2230	c.2131G>T	c.(2131-2133)Gtg>Ttg	p.V711L	ZNF618_ENST00000470105.1_3'UTR|ZNF618_ENST00000374126.5_Missense_Mutation_p.V804L	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	804					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						GGCCCACAAGGTGGCCATGAT	0.612													7	98					2.0095e-06	2.08533e-06	1	1	0	T	116811992	G	T	116811992	3	4	235	1	0	0	0	0	1	0	0	0	18099	1261	44	4	2185	4	ZNF618	9	116811992	Missense_Mutation	SNP	G	TCGA-J9-A52D-01A-11D-A29Q-08	95670873	116811992	24401439	17	11434											
MAPKAP1	79109	broad.mit.edu	37	chr9	128230300	128230300	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcacagagcaggtcggaatcGattgagatgggtttctgctt	9	11	14	7	2	1	2	0	1	1	2	3	5	1	3	0	3	2	4	0	3	1	3			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr9:128230300G>A	ENST00000265960.3	-	10	1628	c.1296C>T	c.(1294-1296)atC>atT	p.I432I	MAPKAP1_ENST00000373511.2_Silent_p.I385I|MAPKAP1_ENST00000373503.3_Silent_p.I240I|MAPKAP1_ENST00000373498.1_Silent_p.I432I|MAPKAP1_ENST00000350766.3_Silent_p.I396I|MAPKAP1_ENST00000373497.5_Silent_p.I145I|MAPKAP1_ENST00000394063.1_Silent_p.I240I|MAPKAP1_ENST00000483937.1_5'UTR	NM_001006617.1	NP_001006618.1	Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1	432					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						GGTCGGAATCGATTGAGATGG	0.453													8	107					0	0	1	0	0	A	128230300	G	A	128230300	2	1	235	1	0	0	0	0	0	0	0	1	9338	1048	37	1		1	MAPKAP1	9	128230300	Silent	SNP	G	TCGA-J9-A52D-01A-11D-A29Q-08	11418308	128230300	12983131	18	11435											
BAMBI	25805	broad.mit.edu	37	chr10	28970265	28970265	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgagctcagcgcctgctTctctagacttcttgatcctc	6	14	7	14	1	4	3	1	2	3	1	7	3	5	3	2	0	3	2	2	0	1	4			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr10:28970265T>A	ENST00000375533.3	+	2	711	c.155T>A	c.(154-156)tTc>tAc	p.F52Y		NM_012342.2	NP_036474.1	Q13145	BAMBI_HUMAN	BMP and activin membrane-bound inhibitor	52					cell migration|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|positive regulation of protein binding|positive regulation of transcription, DNA-dependent|regulation of cell shape	cytoplasm|integral to membrane|plasma membrane	frizzled binding|type II transforming growth factor beta receptor binding			central_nervous_system(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	17						AGCGCCTGCTTCTCTAGACTT	0.498													37	45					0	0	1	0	0	A	28970265	T	A	28970265	3	1	235	1	0	0	0	0	1	0	0	0	1304	1783	62	5	161	5	BAMBI	10	28970265	Missense_Mutation	SNP	T	TCGA-J9-A52D-01A-11D-A29Q-08		28970265	106564482	19	11436											
OGDHL	55753	broad.mit.edu	37	chr10	50953976	50953976	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accacccgggccacgtcggtCgggtatggtgaggagcgggc	6	5	18	12	5	0	1	0	1	0	0	2	2	0	2	3	6	1	1	3	6	1	1			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr10:50953976C>T	ENST00000374103.4	-	11	1429	c.1344G>A	c.(1342-1344)ccG>ccA	p.P448P	OGDHL_ENST00000432695.1_Silent_p.P239P|OGDHL_ENST00000419399.1_Silent_p.P391P	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	448					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CCACGTCGGTCGGGTATGGTG	0.552													18	38					0	0	1	0	0	T	50953976	C	T	50953976	2	4	235	1	0	0	0	0	0	0	0	1	10888	871	31	1		1	OGDHL	10	50953976	Silent	SNP	C	TCGA-J9-A52D-01A-11D-A29Q-08	21983711	50953976	84580771	20	11437											
DNAJC24	120526	broad.mit.edu	37	chr11	31436377	31436377	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtatcatccagataaacaaaGtacagatgtaccagcaggaa	18	7	8	8	0	1	2	1	0	0	2	2	3	2	3	2	1	4	4	2	1	7	4			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr11:31436377G>T	ENST00000536040.1	+	3	220	c.128G>T	c.(127-129)aGt>aTt	p.S43I	DNAJC24_ENST00000465995.1_Missense_Mutation_p.S44I			Q6P3W2	DJC24_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 24	43	J.				protein folding		heat shock protein binding|metal ion binding|unfolded protein binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|skin(1)|upper_aerodigestive_tract(2)	11						GATAAACAAAGTACAGATGTA	0.398													9	68					7.48243e-07	7.91411e-07	1	1	0	T	31436377	G	T	31436377	3	4	235	1	0	0	0	0	1	0	0	0	4669	1029	36	4	137	4	DNAJC24	11	31436377	Missense_Mutation	SNP	G	TCGA-J9-A52D-01A-11D-A29Q-08		31436377	103570139	21	11438											
RCOR2	283248	broad.mit.edu	37	chr11	63679992	63679992	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatagccccaaagtctttgcCatacctacggatggctgcaa	12	9	8	12	1	1	0	0	0	1	0	1	1	1	1	4	2	5	2	4	2	6	4			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr11:63679992C>T	ENST00000301459.4	-	11	1429	c.1042G>A	c.(1042-1044)Ggc>Agc	p.G348S		NM_173587.3	NP_775858.2	Q8IZ40	RCOR2_HUMAN	REST corepressor 2	348	SANT 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.Y347fs*39(1)		kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						AAGTCTTTGCCATACCTACGG	0.547													54	60					0	0	1	0	0	T	63679992	C	T	63679992	3	4	235	1	0	0	0	0	1	0	0	0	13235	594	21	2	537	2	RCOR2	11	63679992	Missense_Mutation	SNP	C	TCGA-J9-A52D-01A-11D-A29Q-08	32243615	63679992	71326524	22	11439											
DIXDC1	85458	broad.mit.edu	37	chr11	111845678	111845678	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcagtacgaagggcaacaAaggtccccgtctgaatccag	13	5	11	12	2	1	1	0	1	1	0	3	2	3	1	3	2	3	3	3	2	5	1			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr11:111845678A>T	ENST00000440460.2	+	5	924	c.627A>T	c.(625-627)caA>caT	p.Q209H	DIXDC1_ENST00000531396.1_Missense_Mutation_p.Q209H|DIXDC1_ENST00000529225.1_Missense_Mutation_p.Q208H|DIXDC1_ENST00000389821.4_3'UTR	NM_001037954.2	NP_001033043.1	Q155Q3	DIXC1_HUMAN	DIX domain containing 1	209	Actin-binding.				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		AAGGGCAACAAAGGTCCCCGT	0.507													5	18					0	0	1	0	0	T	111845678	A	T	111845678	3	4	235	1	0	0	0	0	1	0	0	0	4569	11	1	5	645	5	DIXDC1	11	111845678	Missense_Mutation	SNP	A	TCGA-J9-A52D-01A-11D-A29Q-08	48165686	111845678	23160838	23	11440											
ERC1	23085	broad.mit.edu	37	chr12	1219473	1219473	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagaagaaatgaagcaaaTggaagtgtatcggagccatt	17	7	13	4	1	0	3	0	1	0	2	1	6	0	6	1	3	2	2	1	3	7	2			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr12:1219473T>G	ENST00000397203.2	+	5	1683	c.1277T>G	c.(1276-1278)aTg>aGg	p.M426R	ERC1_ENST00000355446.5_Missense_Mutation_p.M426R|ERC1_ENST00000546231.2_Missense_Mutation_p.M426R|ERC1_ENST00000543086.3_Missense_Mutation_p.M426R|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000360905.4_Missense_Mutation_p.M426R|ERC1_ENST00000589028.1_Missense_Mutation_p.M426R			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	426					I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			ATGAAGCAAATGGAAGTGTAT	0.373													25	27					0	0	1	0	0	G	1219473	T	G	1219473	3	3	235	1	0	0	0	0	1	0	0	0	5238	1464	51	5	1291	5	ERC1	12	1219473	Missense_Mutation	SNP	T	TCGA-J9-A52D-01A-11D-A29Q-08		1219473	132632422	24	11441											
DPY19L2	283417	broad.mit.edu	37	chr12	63954301	63954301	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtatccttctcagttaacCtttaatactctgtacacact	11	16	3	11	0	2	0	1	0	2	0	4	0	3	0	2	0	3	3	2	0	6	8			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr12:63954301C>A	ENST00000324472.4	-	22	2451	c.2268G>T	c.(2266-2268)aaG>aaT	p.K756N	DPY19L2_ENST00000413230.2_Missense_Mutation_p.K203N	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	756					multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		CTCAGTTAACCTTTAATACTC	0.413													6	49					0.0215528	0.0215528	1	1	0	A	63954301	C	A	63954301	3	1	235	1	0	0	0	0	1	0	0	0	4767	680	24	4	12	4	DPY19L2	12	63954301	Missense_Mutation	SNP	C	TCGA-J9-A52D-01A-11D-A29Q-08	62734828	63954301	69897594	25	11442											
ARL1	400	broad.mit.edu	37	chr12	101794883	101794883	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttggaaatgccaattcggTctcggtcacaactgtctact	10	13	8	10	2	3	0	1	0	2	0	5	1	3	1	1	3	3	0	1	3	4	3			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr12:101794883T>C	ENST00000261636.8	-	4	467	c.293A>G	c.(292-294)gAc>gGc	p.D98G	ARL1_ENST00000536227.1_Missense_Mutation_p.D81G|ARL1_ENST00000551688.1_Intron|ARL1_ENST00000551828.1_Missense_Mutation_p.D81G|ARL1_ENST00000551671.1_Missense_Mutation_p.D98G|ARL1_ENST00000539055.1_Missense_Mutation_p.D52G	NM_001177.4	NP_001168.1	P40616	ARL1_HUMAN	ADP-ribosylation factor-like 1	98					small GTPase mediated signal transduction	Golgi membrane	enzyme activator activity|GTP binding|GTPase activity|metal ion binding|protein binding			central_nervous_system(1)|upper_aerodigestive_tract(1)	2		Lung NSC(355;2.1e-05)|Breast(359;0.00015)|Myeloproliferative disorder(1001;0.163)		GBM - Glioblastoma multiforme(134;1.67e-09)|BRCA - Breast invasive adenocarcinoma(302;0.0125)		GCCAATTCGGTCTCGGTCACA	0.373													24	35					0	0	1	0	0	C	101794883	T	C	101794883	3	2	235	1	0	0	0	0	1	0	0	0	922	1667	58	3	264	3	ARL1	12	101794883	Missense_Mutation	SNP	T	TCGA-J9-A52D-01A-11D-A29Q-08	37840582	101794883	32057012	26	11443											
DCLK1	9201	broad.mit.edu	37	chr13	36402390	36402390	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaattttatacatactttGcctcgacatttgcttttctt	10	19	3	9	1	1	0	0	0	1	0	2	1	1	0	1	0	4	1	1	0	4	9			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr13:36402390G>T	ENST00000255448.4	-	9	1495	c.1284C>A	c.(1282-1284)ggC>ggA	p.G428G	DCLK1_ENST00000379893.1_Silent_p.G121G|DCLK1_ENST00000360631.3_Silent_p.G428G	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	428	Protein kinase.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TACATACTTTGCCTCGACATT	0.338													8	12					3.09899e-07	3.34204e-07	1	1	0	T	36402390	G	T	36402390	2	4	235	1	0	0	0	0	0	0	0	1	4314	1306	46	4		4	DCLK1	13	36402390	Silent	SNP	G	TCGA-J9-A52D-01A-11D-A29Q-08		36402390	78767488	27	11444											
IRF9	10379	broad.mit.edu	37	chr14	24632648	24632648	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agttctgtgtcctctgagagGaaggaggaagaggatgccat	11	9	15	6	0	2	2	0	1	2	2	3	7	3	6	2	4	1	1	2	4	2	1			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr14:24632648G>A	ENST00000396864.3	+	4	713	c.426G>A	c.(424-426)agG>agA	p.R142R	IRF9_ENST00000557894.1_Silent_p.R40R|RP11-468E2.4_ENST00000558468.1_3'UTR	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	142					interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity	p.R142S(1)		NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		CCTCTGAGAGGAAGGAGGAAG	0.532													86	114					0	0	1	0	0	A	24632648	G	A	24632648	2	1	235	1	0	0	0	0	0	0	0	1	7881	1165	41	2		2	IRF9	14	24632648	Silent	SNP	G	TCGA-J9-A52D-01A-11D-A29Q-08		24632648	82716892	28	11445											
CHST4	10164	broad.mit.edu	37	chr16	71570800	71570800	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgttttctacctgatggagCccgcctggcacgtgtggatg	6	12	13	10	2	1	1	0	1	1	0	1	3	1	3	3	3	2	2	3	3	1	3			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr16:71570800C>T	ENST00000338482.5	+	3	563	c.220C>T	c.(220-222)Ccc>Tcc	p.P74S	ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000539698.3_Missense_Mutation_p.P74S|CHST4_ENST00000572450.1_Missense_Mutation_p.P74S|RP11-510M2.9_ENST00000572693.1_RNA			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	74					cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						CCTGATGGAGCCCGCCTGGCA	0.587													5	87					0	0	1	0	0	T	71570800	C	T	71570800	3	4	235	1	0	0	0	0	1	0	0	0	3428	739	26	2	222	2	CHST4	16	71570800	Missense_Mutation	SNP	C	TCGA-J9-A52D-01A-11D-A29Q-08		71570800	18783953	29	11446											
GAS2L2	246176	broad.mit.edu	37	chr17	34072175	34072175	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctgtggtctctccggggccGaatcctgggtctcagcttca	4	11	12	14	2	3	0	2	0	2	0	7	1	5	0	4	4	1	1	4	4	1	1			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr17:34072175G>A	ENST00000254466.6	-	6	2368	c.2341C>T	c.(2341-2343)Cgg>Tgg	p.R781W	GAS2L2_ENST00000587565.1_Missense_Mutation_p.R765W	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	781					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTCCGGGGCCGAATCCTGGGT	0.612													4	139					0	0	1	0	0	A	34072175	G	A	34072175	3	1	235	1	0	0	0	0	1	0	0	0	6287	1057	37	1	305	1	GAS2L2	17	34072175	Missense_Mutation	SNP	G	TCGA-J9-A52D-01A-11D-A29Q-08		34072175	47123035	30	11447											
CNTNAP1	8506	broad.mit.edu	37	chr17	40837976	40837976	+	Splice_Site	DEL	C	C	-																															tgtcctgccccaccctcaggCagcagccctatccagccaag																										TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr17:40837976delC	ENST00000264638.4	+	6	934	c.715_splice	c.e6-1	p.G239_splice	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	239	Laminin G-like 1.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CACCCTCAGGCAGCAGCCCTA	0.607													49	68	---	---	---	---						-	40837976	C	-	40837976	8	5	235	1	0	1	0	1	0	0	1	0	3669	724	25	0	739	0	CNTNAP1	17	40837976	Splice_Site	DEL	C	TCGA-J9-A52D-01A-11D-A29Q-08	6765801	40837976	40357234	31	11448											
SLC4A1	6521	broad.mit.edu	37	chr17	42328795	42328795	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtcctgtacccgcttgaCgtagggcacatctgggtgat	7	10	14	10	2	1	2	0	2	1	0	2	2	2	2	2	3	1	4	2	3	2	3			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr17:42328795C>T	ENST00000262418.6	-	18	2628	c.2473G>A	c.(2473-2475)Gtc>Atc	p.V825I		NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	825	Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		ACCCGCTTGACGTAGGGCACA	0.602													31	56					0	0	1	0	0	T	42328795	C	T	42328795	3	4	235	1	0	0	0	0	1	0	0	0	14705	536	19	1	274	1	SLC4A1	17	42328795	Missense_Mutation	SNP	C	TCGA-J9-A52D-01A-11D-A29Q-08	1490819	42328795	38866415	32	11449											
SPOP	8405	broad.mit.edu	37	chr17	47696426	47696426	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctacggatgaatttcttgaAtccccagtctttgccttgca	8	15	7	11	1	3	2	0	2	3	0	4	3	4	3	3	1	3	1	3	1	3	5			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr17:47696426A>T	ENST00000393331.3	-	7	867	c.397T>A	c.(397-399)Ttc>Atc	p.F133I	SPOP_ENST00000393328.2_Missense_Mutation_p.F133I|SPOP_ENST00000347630.2_Missense_Mutation_p.F133I|SPOP_ENST00000503676.1_Missense_Mutation_p.F133I|SPOP_ENST00000504102.1_Missense_Mutation_p.F133I	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	133	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.F133V(4)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						AATTTCTTGAATCCCCAGTCT	0.448										Prostate(2;0.17)			57	68					0	0	1	0	0	T	47696426	A	T	47696426	3	4	235	1	0	0	0	0	1	0	0	0	15140	101	4	5	751	5	SPOP	17	47696426	Missense_Mutation	SNP	A	TCGA-J9-A52D-01A-11D-A29Q-08	5367631	47696426	33498784	33	11450											
DNAH17	8632	broad.mit.edu	37	chr17	76472714	76472714	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtttcctggtctttttcGtcaaccattttgtcaccata	8	18	5	10	1	3	0	2	0	1	0	5	0	4	0	3	1	1	1	3	1	3	6			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr17:76472714G>A	ENST00000389840.5	-	52	8176	c.8052C>T	c.(8050-8052)gaC>gaT	p.D2684D	DNAH17_ENST00000586052.1_Intron|DNAH17_ENST00000585328.1_Silent_p.D2693D					dynein, axonemal, heavy chain 17									p.D2693D(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GGTCTTTTTCGTCAACCATTT	0.488													11	12					0	0	1	0	0	A	76472714	G	A	76472714	2	1	235	1	0	0	0	0	0	0	0	1	4629	1136	40	1		1	DNAH17	17	76472714	Silent	SNP	G	TCGA-J9-A52D-01A-11D-A29Q-08	28776288	76472714	4722496	34	11451											
DNAH17	8632	broad.mit.edu	37	chr17	76566365	76566365	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcagaactcctgcaggatGacgatgatcctggcaggtgt	9	10	13	9	1	0	3	0	2	0	1	2	5	2	4	2	3	3	3	2	3	1	1			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr17:76566365G>T	ENST00000389840.5	-	7	1132	c.1008C>A	c.(1006-1008)gtC>gtA	p.V336V	DNAH17_ENST00000585328.1_Silent_p.V336V					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CCTGCAGGATGACGATGATCC	0.597													9	10					5.4927e-09	6.04197e-09	1	1	0	T	76566365	G	T	76566365	2	4	235	1	0	0	0	0	0	0	0	1	4629	1277	45	4		4	DNAH17	17	76566365	Silent	SNP	G	TCGA-J9-A52D-01A-11D-A29Q-08	93651	76566365	4628845	35	11452											
RTTN	25914	broad.mit.edu	37	chr18	67844063	67844063	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttctccaagggctcccaacaCcaggagtagtttctccttct	8	12	7	14	0	3	0	0	0	3	0	6	1	4	1	4	2	1	3	4	2	3	4			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr18:67844063C>T	ENST00000255674.6	-	11	1610	c.1324G>A	c.(1324-1326)Gtg>Atg	p.V442M	RTTN_ENST00000437017.1_Missense_Mutation_p.V442M|RTTN_ENST00000454359.1_Missense_Mutation_p.V442M	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	442							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				GCTCCCAACACCAGGAGTAGT	0.428													9	102					0	0	1	0	0	T	67844063	C	T	67844063	3	4	235	1	0	0	0	0	1	0	0	0	13789	507	18	2	5512	2	RTTN	18	67844063	Missense_Mutation	SNP	C	TCGA-J9-A52D-01A-11D-A29Q-08		67844063	10233185	36	11453											
EBI3	10148	broad.mit.edu	37	chr19	4236975	4236975	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttcatcctcagggctgtgCggccccgagccaggtactac	6	8	11	16	2	2	0	2	0	0	0	3	1	3	0	5	3	4	2	5	3	2	3			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr19:4236975C>T	ENST00000221847.5	+	5	633	c.580C>T	c.(580-582)Cgg>Tgg	p.R194W		NM_005755.2	NP_005746.2	Q14213	IL27B_HUMAN	Epstein-Barr virus induced 3	194	Fibronectin type-III 2.				humoral immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of interferon-gamma biosynthetic process|T-helper 1 type immune response	extracellular space|plasma membrane	cytokine activity|cytokine receptor activity			large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0336)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGGCTGTGCGGCCCCGAGC	0.607													3	57					0	0	1	0	0	T	4236975	C	T	4236975	3	4	235	1	0	0	0	0	1	0	0	0	4909	759	27	1	598	1	EBI3	19	4236975	Missense_Mutation	SNP	C	TCGA-J9-A52D-01A-11D-A29Q-08		4236975	54892008	37	11454											
DUS3L	56931	broad.mit.edu	37	chr19	5789637	5789637	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtctcgaagagcacgcagcGggggcccaggtcggccggct	6	4	18	13	5	1	1	0	0	1	1	3	2	1	1	2	6	2	3	2	6	1	0			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr19:5789637G>A	ENST00000309061.7	-	3	577	c.481C>T	c.(481-483)Cgc>Tgc	p.R161C	DUS3L_ENST00000320699.8_Intron|DUS3L_ENST00000590681.1_5'UTR	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	161					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						AGCACGCAGCGGGGGCCCAGG	0.682													7	7					0	0	1	0	0	A	5789637	G	A	5789637	3	1	235	1	0	0	0	0	1	0	0	0	4833	1116	39	1	1515	1	DUS3L	19	5789637	Missense_Mutation	SNP	G	TCGA-J9-A52D-01A-11D-A29Q-08	1552662	5789637	53339346	38	11455											
CYP2A6	1548	broad.mit.edu	37	chr19	41350562	41350562	+	Frame_Shift_Del	DEL	C	C	-																															aaaagggcacaaaagcatcaCtcttcttaaactgccccttc																										TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr19:41350562delC	ENST00000301141.5	-	8	1297	c.1277delG	c.(1276-1278)atfs	p.S426fs	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753.3	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	426					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	AAAAGCATCACTCTTCTTAAA	0.567													86	68	---	---	---	---						-	41350562	C	-	41350562	7	5	235	1	0	1	0	1	0	0	0	0	4185	565	20	0	215	0	CYP2A6	19	41350562	Frame_Shift_Del	DEL	C	TCGA-J9-A52D-01A-11D-A29Q-08	35560925	41350562	17778421	39	11456											
ZNF233	353355	broad.mit.edu	37	chr19	44778000	44778000	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtagacagtgctggagagaGagcctgtaaatgtgatgtat	12	11	14	4	0	0	4	0	1	0	3	0	6	0	4	1	1	2	4	1	1	4	3			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr19:44778000G>C	ENST00000391958.2	+	5	1314	c.1187G>C	c.(1186-1188)aGa>aCa	p.R396T	ZNF233_ENST00000592581.1_3'UTR|ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000334152.1_Missense_Mutation_p.R378T	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	396					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				GCTGGAGAGAGAGCCTGTAAA	0.448													41	23					0	0	1	0	0	C	44778000	G	C	44778000	3	2	235	1	0	0	0	0	1	0	0	0	17844	942	33	4	1201	4	ZNF233	19	44778000	Missense_Mutation	SNP	G	TCGA-J9-A52D-01A-11D-A29Q-08	3427438	44778000	14350983	40	11457											
KLK15	55554	broad.mit.edu	37	chr19	51330399	51330399	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcgcaggttgtgctctccCaggcgcactctcatgaagct	6	11	11	13	2	2	1	1	1	2	0	4	1	2	1	1	2	3	5	1	2	1	2			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr19:51330399C>G	ENST00000326856.4	-	4	342	c.213G>C	c.(211-213)ctG>ctC	p.L71L	KLK15_ENST00000598239.1_Silent_p.L72L|KLK15_ENST00000416184.1_Silent_p.L72L|KLK15_ENST00000301421.2_Silent_p.L72L|KLK15_ENST00000596931.1_Silent_p.L71L	NM_001277081.1	NP_001264010.1	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	72	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		TGTGCTCTCCCAGGCGCACTC	0.622													23	24					0	0	1	0	0	G	51330399	C	G	51330399	2	3	235	1	0	0	0	0	0	0	0	1	8446	581	21	4		4	KLK15	19	51330399	Silent	SNP	C	TCGA-J9-A52D-01A-11D-A29Q-08	6552399	51330399	7798584	41	11458											
C20orf96	140680	broad.mit.edu	37	chr20	257752	257752	+	Frame_Shift_Del	DEL	T	T	-																															cagacaaggattccaggaccTttctgcgcatctcaccgagg																										TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr20:257752delT	ENST00000360321.2	-	8	896	c.758delA	c.(757-759)agfs	p.K253fs	C20orf96_ENST00000382369.5_Frame_Shift_Del_p.K218fs|C20orf96_ENST00000400269.3_Frame_Shift_Del_p.K195fs	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	chromosome 20 open reading frame 96	253										endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			TTCCAGGACCTTTCTGCGCAT	0.552													125	178	---	---	---	---						-	257752	T	-	257752	7	5	235	1	0	1	0	1	0	0	0	0	2136	1609	56	0	349	0	C20orf96	20	257752	Frame_Shift_Del	DEL	T	TCGA-J9-A52D-01A-11D-A29Q-08		257752	62767768	42	11459											
BCAS4	55653	broad.mit.edu	37	chr20	49446884	49446884	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggccaaactgacagaaatGcgtggcatctatgccaaagt	15	7	10	9	1	1	2	0	1	1	1	1	2	1	2	2	2	3	1	2	2	5	1			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr20:49446884G>A	ENST00000358791.5	+	3	421	c.321G>A	c.(319-321)atG>atA	p.M107I	BCAS4_ENST00000371608.2_Missense_Mutation_p.M107I|BCAS4_ENST00000485049.1_3'UTR|BCAS4_ENST00000262591.5_Missense_Mutation_p.M107I	NM_017843.3	NP_060313.3	Q8TDM0	BCAS4_HUMAN	breast carcinoma amplified sequence 4	107						cytoplasm				large_intestine(2)|lung(2)|pancreas(1)|upper_aerodigestive_tract(1)	6						TGACAGAAATGCGTGGCATCT	0.488													35	37					0	0	1	0	0	A	49446884	G	A	49446884	3	1	235	1	0	0	0	0	1	0	0	0	1351	1319	46	2	331	2	BCAS4	20	49446884	Missense_Mutation	SNP	G	TCGA-J9-A52D-01A-11D-A29Q-08	49189132	49446884	13578636	43	11460											
UCKL1	54963	broad.mit.edu	37	chr20	62572025	62572025	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgcacacagcgcgcagcgcGggctccatggtttcaccggc	6	7	13	15	5	1	0	1	0	0	0	2	0	2	0	2	3	3	4	2	3	0	2			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chr20:62572025G>A	ENST00000369908.5	-	12	1478	c.1179C>T	c.(1177-1179)ccC>ccT	p.P393P	UCKL1_ENST00000358711.3_3'UTR|UCKL1_ENST00000354216.6_Silent_p.P408P|UCKL1_ENST00000369892.3_Silent_p.P408P	NM_001193379.1	NP_001180308.1	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	408					interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CGCGCAGCGCGGGCTCCATGG	0.697													12	16					0	0	1	0	0	A	62572025	G	A	62572025	2	1	235	1	0	0	0	0	0	0	0	1	16985	1103	39	1		1	UCKL1	20	62572025	Silent	SNP	G	TCGA-J9-A52D-01A-11D-A29Q-08	13125141	62572025	453495	44	11461											
AKAP4	8852	broad.mit.edu	37	chrX	49955714	49955714	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acctcttgaagaagacctccTacactgtaccccttctctgc	9	11	5	16	0	2	3	0	1	2	2	4	3	3	3	5	0	3	1	5	0	4	4			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chrX:49955714T>A	ENST00000376056.2	-	6	2577	c.2427A>T	c.(2425-2427)gtA>gtT	p.V809V	AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376064.3_Silent_p.V809V|AKAP4_ENST00000358526.2_Silent_p.V818V|AKAP4_ENST00000376058.2_Silent_p.V435V			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	818					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					GAAGACCTCCTACACTGTACC	0.512													50	10					0	0	1	0	0	A	49955714	T	A	49955714	2	1	235	1	0	0	0	0	0	0	0	1	450	1509	53	5		5	AKAP4	23	49955714	Silent	SNP	T	TCGA-J9-A52D-01A-11D-A29Q-08		49955714	105314846	45	11462			1	28		2	2	18	N	T_CTG	2.635901e-05
AKAP4	8852	broad.mit.edu	37	chrX	49955731	49955733	+	In_Frame_Del	DEL	CTG	CTG	-																															tcctacactgtaccccttctCtgctgctttagctgaaacct																										TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chrX:49955731_49955733delCTG	ENST00000376056.2	-	6	2558_2560	c.2408_2410delCAG	c.(2407-2412)gag>g	p.AE803del	AKAP4_ENST00000376058.2_In_Frame_Del_p.AE429del|AKAP4_ENST00000376064.3_In_Frame_Del_p.AE803del|AKAP4_ENST00000358526.2_In_Frame_Del_p.AE812del|AKAP4_ENST00000481402.1_5'UTR			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	812					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					TACCCCTTCTCTGCTGCTTTAGC	0.498													58	18	---	---	---	---						-	49955733	CTG	-	49955731	7	5	235	1	0	1	0	1	0	0	0	0	450	922	32	0	131	0	AKAP4	23	49955731	In_Frame_Del	DEL	CTG	TCGA-J9-A52D-01A-11D-A29Q-08	17	49955731	105314829	46	11463			1	28		2	2	18	N	T_CTG	2.635901e-05
RPA4	29935	broad.mit.edu	37	chrX	96140003	96140003	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagctctgcgaccttagcGtcaaggccatcaaggaagcg	10	7	11	13	3	4	0	3	0	1	0	4	2	4	1	2	2	4	1	2	2	4	1			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chrX:96140003G>A	ENST00000373040.3	+	1	1097	c.694G>A	c.(694-696)Gtc>Atc	p.V232I	DIAPH2_ENST00000373061.3_Intron|DIAPH2_ENST00000373049.4_Intron|DIAPH2_ENST00000324765.8_Intron|DIAPH2_ENST00000355827.4_Intron|DIAPH2_ENST00000373054.4_Intron	NM_013347.4	NP_037479.1	Q13156	RFA4_HUMAN	replication protein A4, 30kDa	232					DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair	DNA replication factor A complex|nucleoplasm	single-stranded DNA binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						CGACCTTAGCGTCAAGGCCAT	0.517								Other identified genes with known or suspected DNA repair function					53	6					0	0	1	0	0	A	96140003	G	A	96140003	3	1	235	1	0	0	0	0	1	0	0	0	13591	1145	40	1	696	1	RPA4	23	96140003	Missense_Mutation	SNP	G	TCGA-J9-A52D-01A-11D-A29Q-08	46184272	96140003	59130557	47	11464											
MTCP1	4515	broad.mit.edu	37	chrX	154294021	154294021	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcctagctgcgtcacctaagGgaacctgaatttgctggact	9	10	11	11	1	1	1	1	1	0	0	1	3	1	3	3	2	4	2	3	2	4	3			TCGA-J9-A52D-01A-11D-A29Q-08	TCGA-J9-A52D-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e63c8077-ee5f-4ff5-a416-8f73b2675957	14d30fae-711c-4b77-a452-4fd8eb1c039c	g.chrX:154294021G>C	ENST00000369476.3	-	3	728	c.149C>G	c.(148-150)cCc>cGc	p.P50R	MTCP1_ENST00000482244.1_5'UTR|CMC4_ENST00000369484.3_Intron|MTCP1_ENST00000362018.2_Missense_Mutation_p.P50R	NM_001018025.3	NP_001018025.1	P56278	MTCP1_HUMAN	mature T-cell proliferation 1	50					cell proliferation					large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	5	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GTCACCTAAGGGAACCTGAAT	0.478			T	TRA@	T cell prolymphocytic leukemia								33	4					0	0	1	0	0	C	154294021	G	C	154294021	3	2	235	1	0	0	0	0	1	0	0	0	9963	1232	43	4	182	4	MTCP1	23	154294021	Missense_Mutation	SNP	G	TCGA-J9-A52D-01A-11D-A29Q-08	58154018	154294021	976539	48	11465											
AURKAIP1	54998	broad.mit.edu	37	chr1	1309669	1309669	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agctctccagggggctgacgGacatcttcctggggaccagc	7	7	14	13	1	2	1	0	1	2	0	4	3	3	3	3	5	2	2	3	5	0	1			TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr1:1309669G>C	ENST00000338370.3	-	2	609	c.209C>G	c.(208-210)tCc>tGc	p.S70C	AURKAIP1_ENST00000338338.5_Missense_Mutation_p.S70C|AURKAIP1_ENST00000378853.3_Missense_Mutation_p.S70C|AURKAIP1_ENST00000489799.1_5'UTR|AURKAIP1_ENST00000321751.5_Missense_Mutation_p.S70C			Q9NWT8	AKIP_HUMAN	aurora kinase A interacting protein 1	70					negative regulation of mitosis|positive regulation of proteolysis	mitochondrion|nucleus	protein binding			kidney(1)|lung(2)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.82e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GGGGCTGACGGACATCTTCCT	0.672													11	33					0	0	1	0	0	C	1309669	G	C	1309669	3	2	236	1	0	0	0	0	1	0	0	0	1220	1174	41	4	398	4	AURKAIP1	1	1309669	Missense_Mutation	SNP	G	TCGA-J9-A52E-01A-11D-A26M-08		1309669	247940952	1	11466											
ATP8B2	57198	broad.mit.edu	37	chr1	154315375	154315375	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagatcggggacccccacaCgcatgagttcttccgcctcc	8	7	9	17	3	1	2	0	1	1	1	4	3	3	3	5	2	0	2	5	2	1	2			TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr1:154315375C>T	ENST00000368489.3	+	15	1490	c.1490C>T	c.(1489-1491)aCg>aTg	p.T497M		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	483					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GACCCCCACACGCATGAGTTC	0.552													10	33					0	0	1	0	0	T	154315375	C	T	154315375	3	4	236	1	0	0	0	0	1	0	0	0	1193	536	19	1	1678	1	ATP8B2	1	154315375	Missense_Mutation	SNP	C	TCGA-J9-A52E-01A-11D-A26M-08	153005706	154315375	94935246	2	11467											
CADM3	57863	broad.mit.edu	37	chr1	159166233	159166233	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctacactgtgagggtcgCggcaatccagtgtaagaaga	11	9	13	8	2	0	3	0	1	0	2	2	3	1	3	1	2	2	3	1	2	4	3			TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr1:159166233C>T	ENST00000368125.4	+	6	928	c.771C>T	c.(769-771)cgC>cgT	p.R257R	CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000368124.4_Silent_p.R291R	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	257	Ig-like C2-type 2.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					GTGAGGGTCGCGGCAATCCAG	0.507											OREG0013913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	21					0	0	1	0	0	T	159166233	C	T	159166233	2	4	236	1	0	0	0	0	0	0	0	1	2586	755	27	1		1	CADM3	1	159166233	Silent	SNP	C	TCGA-J9-A52E-01A-11D-A26M-08	4850858	159166233	90084388	3	11468											
TNN	63923	broad.mit.edu	37	chr1	175046867	175046867	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcgagttggcaggcagtGtccaggacctcctggcccgg	6	7	15	13	2	0	0	0	0	0	0	2	2	2	1	4	5	1	3	4	5	0	1			TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr1:175046867G>T	ENST00000239462.4	+	2	426	c.313G>T	c.(313-315)Gtc>Ttc	p.V105F		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	105					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GGCAGGCAGTGTCCAGGACCT	0.602													7	51					3.09899e-07	3.41683e-07	1	1	0	T	175046867	G	T	175046867	3	4	236	1	0	0	0	0	1	0	0	0	16383	1377	48	4	315	4	TNN	1	175046867	Missense_Mutation	SNP	G	TCGA-J9-A52E-01A-11D-A26M-08	15880634	175046867	74203754	4	11469											
IWS1	55677	broad.mit.edu	37	chr2	128262756	128262756	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgatacgaggtttgggaagCtcctcattttcagagtcact	9	13	10	9	1	3	2	3	1	0	1	4	4	4	3	1	2	2	2	1	2	2	4			TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr2:128262756C>T	ENST00000295321.4	-	3	982	c.723G>A	c.(721-723)gaG>gaA	p.E241E	AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000455721.2_Silent_p.E248E	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	241	3 X approximate tandem repeats.|Glu-rich.				transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		GTTTGGGAAGCTCCTCATTTT	0.512													34	112					0	0	1	0	0	T	128262756	C	T	128262756	2	4	236	1	0	0	0	0	0	0	0	1	7975	796	28	2		2	IWS1	2	128262756	Silent	SNP	C	TCGA-J9-A52E-01A-11D-A26M-08		128262756	114936617	5	11470											
TAGLN3	29114	broad.mit.edu	37	chr3	111719774	111719774	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaaccaccgacatctttcaGacggtggatctatgggaagg	12	8	12	9	2	3	2	1	0	2	2	3	5	3	4	2	4	1	0	2	4	3	2			TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr3:111719774G>A	ENST00000393917.2	+	3	888	c.336G>A	c.(334-336)caG>caA	p.Q112Q	TAGLN3_ENST00000273368.4_Silent_p.Q112Q|TAGLN3_ENST00000486460.1_Silent_p.Q28Q|TAGLN3_ENST00000478951.1_Silent_p.Q112Q|TAGLN3_ENST00000455401.2_Silent_p.Q112Q	NM_013259.2	NP_037391.2	Q9UI15	TAGL3_HUMAN	transgelin 3	112	CH.				central nervous system development|muscle organ development					endometrium(2)|lung(5)|urinary_tract(1)	8						ACATCTTTCAGACGGTGGATC	0.473													12	81					0	0	1	0	0	A	111719774	G	A	111719774	2	1	236	1	0	0	0	0	0	0	0	1	15597	933	33	2		2	TAGLN3	3	111719774	Silent	SNP	G	TCGA-J9-A52E-01A-11D-A26M-08		111719774	86302656	6	11471											
SI	6476	broad.mit.edu	37	chr3	164735586	164735586	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgcaacttctggagttgggCccaaaaacatataaaaatcc	15	10	7	9	0	1	0	0	0	1	0	2	1	2	1	2	2	3	2	2	2	7	5			TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr3:164735586C>A	ENST00000264382.3	-	30	3658	c.3596G>T	c.(3595-3597)gGc>gTc	p.G1199V		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1199	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TGGAGTTGGGCCCAAAAACAT	0.333										HNSCC(35;0.089)			3	25					2.56e-06	2.752e-06	1	1	0	A	164735586	C	A	164735586	3	1	236	1	0	0	0	0	1	0	0	0	14352	739	26	4	1963	4	SI	3	164735586	Missense_Mutation	SNP	C	TCGA-J9-A52E-01A-11D-A26M-08	53015812	164735586	33286844	7	11472											
HIST1H3H	8357	broad.mit.edu	37	chr6	27777905	27777905	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accggcggcaaggctccgcgCaagcagctggccaccaaggc	9	2	14	16	4	0	0	0	0	0	0	1	0	1	0	4	5	2	5	4	5	3	0			TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr6:27777905C>A	ENST00000369163.2	+	1	64	c.54C>A	c.(52-54)cgC>cgA	p.R18R		NM_003536.2	NP_003527.1	P68431	H31_HUMAN	histone cluster 1, H3h	18					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)|upper_aerodigestive_tract(3)	10						AGGCTCCGCGCAAGCAGCTGG	0.632													12	85					6.40141e-05	6.71367e-05	1	1	0	A	27777905	C	A	27777905	2	1	236	1	0	0	0	0	0	0	0	1	7203	697	25	4		4	HIST1H3H	6	27777905	Silent	SNP	C	TCGA-J9-A52E-01A-11D-A26M-08		27777905	143337162	8	11473											
TRRAP	8295	broad.mit.edu	37	chr7	98608832	98608832	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gataggcttcgcggaattcgTcctgcatttaaatagactca	11	12	9	9	3	1	1	1	0	0	1	4	3	2	2	1	2	1	2	1	2	5	6			TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr7:98608832T>G	ENST00000359863.4	+	70	11263	c.11054T>G	c.(11053-11055)gTc>gGc	p.V3685G	TRRAP_ENST00000446306.3_Missense_Mutation_p.V3674G|TRRAP_ENST00000355540.3_Missense_Mutation_p.V3656G	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3685	PI3K/PI4K.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GCGGAATTCGTCCTGCATTTA	0.532													22	123					0	0	1	0	0	G	98608832	T	G	98608832	3	3	236	1	0	0	0	0	1	0	0	0	16662	1667	58	5	11237	5	TRRAP	7	98608832	Missense_Mutation	SNP	T	TCGA-J9-A52E-01A-11D-A26M-08		98608832	60529831	9	11474											
TMEM140	55281	broad.mit.edu	37	chr7	134849232	134849232	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggtggcgcgaccagctgctGttcatgagcatcatagtcct	7	10	12	12	3	2	1	2	1	0	0	3	2	3	1	2	2	3	4	2	2	1	2			TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr7:134849232G>A	ENST00000275767.2	+	2	262	c.39G>A	c.(37-39)ctG>ctA	p.L13L	C7orf49_ENST00000459937.1_Intron	NM_018295.4	NP_060765.4	Q9NV12	TM140_HUMAN	transmembrane protein 140	13						integral to membrane				kidney(1)|large_intestine(2)|lung(2)	5						ACCAGCTGCTGTTCATGAGCA	0.592													15	125					0	0	1	0	0	A	134849232	G	A	134849232	2	1	236	1	0	0	0	0	0	0	0	1	16115	1364	48	2		2	TMEM140	7	134849232	Silent	SNP	G	TCGA-J9-A52E-01A-11D-A26M-08	36240400	134849232	24289431	10	11475											
DAPK1	1612	broad.mit.edu	37	chr9	90296532	90296532	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caccttcacccctggcttctAagcccacaggtaggaacctc	9	8	7	17	0	2	0	1	0	1	0	3	1	2	1	5	3	2	2	5	3	3	4			TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr9:90296532A>T	ENST00000469640.2	+	20	2590	c.2215A>T	c.(2215-2217)Aag>Tag	p.K739*	DAPK1_ENST00000408954.3_Nonsense_Mutation_p.K739*|DAPK1_ENST00000358077.5_Nonsense_Mutation_p.K739*|DAPK1_ENST00000472284.1_Nonsense_Mutation_p.K739*|DAPK1_ENST00000491893.1_Nonsense_Mutation_p.K739*			P53355	DAPK1_HUMAN	death-associated protein kinase 1	739					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						CCTGGCTTCTAAGCCCACAGG	0.577									Chronic Lymphocytic Leukemia, Familial Clustering of				4	13					0	0	1	0	0	T	90296532	A	T	90296532	4	4	236	1	0	0	0	0	0	1	0	0	4259	363	13	5	2289	5	DAPK1	9	90296532	Nonsense_Mutation	SNP	A	TCGA-J9-A52E-01A-11D-A26M-08		90296532	50916899	11	11476											
TBC1D2	55357	broad.mit.edu	37	chr9	100975410	100975410	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cttcgtcagaagggccttctCcttctcagccacctttctcc	5	13	6	17	1	4	1	2	0	3	1	8	1	4	1	5	1	1	0	5	1	1	4			TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr9:100975410C>G	ENST00000375066.5	-	7	1556	c.1465G>C	c.(1465-1467)Gag>Cag	p.E489Q	TBC1D2_ENST00000375064.1_Missense_Mutation_p.E489Q|TBC1D2_ENST00000342112.5_Missense_Mutation_p.E271Q|TBC1D2_ENST00000375063.1_Missense_Mutation_p.E29Q|TBC1D2_ENST00000493589.2_Intron	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	489						cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		AGGGCCTTCTCCTTCTCAGCC	0.592													8	17					0	0	1	0	0	G	100975410	C	G	100975410	3	3	236	1	0	0	0	0	1	0	0	0	15665	864	30	4	1316	4	TBC1D2	9	100975410	Missense_Mutation	SNP	C	TCGA-J9-A52E-01A-11D-A26M-08	10678878	100975410	40238021	12	11477											
C10orf107	219621	broad.mit.edu	37	chr10	63525768	63525768	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atagaaaaattgaaaaaggcCtaaggacttggtacaaggag	19	7	11	4	0	0	2	0	1	0	1	0	4	0	4	1	4	1	1	1	4	8	5			TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr10:63525768C>G	ENST00000330194.2	+	7	929	c.624C>G	c.(622-624)gcC>gcG	p.A208A		NM_173554.2	NP_775825.1	Q8IVU9	CJ107_HUMAN	chromosome 10 open reading frame 107	208										breast(1)|kidney(1)|lung(4)|prostate(1)|skin(1)	8	Prostate(12;0.016)					TGAAAAAGGCCTAAGGACTTG	0.403													13	18					0	0	1	0	0	G	63525768	C	G	63525768	2	3	236	1	0	0	0	0	0	0	0	1	1585	668	24	4		4	C10orf107	10	63525768	Silent	SNP	C	TCGA-J9-A52E-01A-11D-A26M-08		63525768	72008979	13	11478											
GPR26	2849	broad.mit.edu	37	chr10	125426388	125426388	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccaccagctgtacgcctcGtgcacgctgtgcagccggcg	5	8	12	16	5	0	0	0	0	0	0	2	0	1	0	4	1	5	5	4	1	1	2			TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr10:125426388G>A	ENST00000284674.1	+	1	518	c.465G>A	c.(463-465)tcG>tcA	p.S155S		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	155					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				TGTACGCCTCGTGCACGCTGT	0.692													7	20					0	0	1	0	0	A	125426388	G	A	125426388	2	1	236	1	0	0	0	0	0	0	0	1	6724	1132	40	1		1	GPR26	10	125426388	Silent	SNP	G	TCGA-J9-A52E-01A-11D-A26M-08	61900620	125426388	10108359	14	11479											
PRKRIR	5612	broad.mit.edu	37	chr11	76062399	76062399	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taagcatttaagagctttgaGgtgctgttctgagaatatat	12	15	10	4	0	1	3	0	2	1	2	1	4	1	3	0	1	3	4	0	1	5	7			TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr11:76062399G>A	ENST00000260045.3	-	5	1900	c.1795C>T	c.(1795-1797)Ctc>Ttc	p.L599F		NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	599					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						AGAGCTTTGAGGTGCTGTTCT	0.408													25	42					0	0	1	0	0	A	76062399	G	A	76062399	3	1	236	1	0	0	0	0	1	0	0	0	12578	1000	35	2	494	2	PRKRIR	11	76062399	Missense_Mutation	SNP	G	TCGA-J9-A52E-01A-11D-A26M-08		76062399	58944117	15	11480											
TREH	11181	broad.mit.edu	37	chr11	118529706	118529706	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agccacttcctgggcccgacGtaaaggtgccttggccaggc	7	7	13	14	2	0	0	0	0	0	0	1	1	1	0	5	4	2	1	5	4	2	3			TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr11:118529706G>A	ENST00000529101.1	-	13	1498	c.1453C>T	c.(1453-1455)Cgt>Tgt	p.R485C	TREH_ENST00000530256.1_Missense_Mutation_p.R362C|TREH_ENST00000397925.1_Missense_Mutation_p.R454C|TREH_ENST00000264029.4_Missense_Mutation_p.R485C|TREH_ENST00000525958.1_Missense_Mutation_p.R454C			O43280	TREA_HUMAN	trehalase (brush-border membrane glycoprotein)	485					polysaccharide digestion|trehalose catabolic process	anchored to plasma membrane	alpha,alpha-trehalase activity			NS(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.16e-05)		TGGGCCCGACGTAAAGGTGCC	0.562											OREG0021385	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	89					0	0	1	0	0	A	118529706	G	A	118529706	3	1	236	1	0	0	0	0	1	0	0	0	16530	1145	40	1	309	1	TREH	11	118529706	Missense_Mutation	SNP	G	TCGA-J9-A52E-01A-11D-A26M-08	42467307	118529706	16476810	16	11481											
TRAPPC6B	122553	broad.mit.edu	37	chr14	39623491	39623491	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atttgttgtcctgaagtacaTagatgccctgttccaaaaat	12	14	7	8	0	0	2	0	1	0	1	2	2	2	2	3	0	2	3	3	0	5	5			TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr14:39623491T>C	ENST00000330149.5	-	4	501	c.275A>G	c.(274-276)tAt>tGt	p.Y92C	TRAPPC6B_ENST00000557764.1_5'UTR|TRAPPC6B_ENST00000347691.5_Intron	NM_001079537.1	NP_001073005.1	Q86SZ2	TPC6B_HUMAN	trafficking protein particle complex 6B	92					vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus	guanylate cyclase activity|heme binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0128)		CTGAAGTACATAGATGCCCTG	0.318													4	10					0	0	1	0	0	C	39623491	T	C	39623491	3	2	236	1	0	0	0	0	1	0	0	0	16525	1406	49	3	213	3	TRAPPC6B	14	39623491	Missense_Mutation	SNP	T	TCGA-J9-A52E-01A-11D-A26M-08		39623491	67726049	17	11482											
CTU2	348180	broad.mit.edu	37	chr16	88780127	88780127	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accacaccctgaaggaggtcGctttctacaaccgcctgttc	9	9	8	15	2	1	1	0	1	1	0	3	2	1	2	4	2	2	2	4	2	3	3			TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr16:88780127G>A	ENST00000567949.1	+	9	1168	c.1159G>A	c.(1159-1161)Gct>Act	p.A387T	CTU2_ENST00000312060.5_Missense_Mutation_p.A316T|CTU2_ENST00000453996.2_Missense_Mutation_p.A316T|CTU2_ENST00000378384.3_Missense_Mutation_p.A229T			Q2VPK5	CTU2_HUMAN	cytosolic thiouridylase subunit 2 homolog (S. pombe)	316					tRNA thio-modification|tRNA wobble uridine modification	cytoplasm|protein complex|soluble fraction	protein binding			NS(1)|breast(1)|endometrium(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						GAAGGAGGTCGCTTTCTACAA	0.637													39	77					0	0	1	0	0	A	88780127	G	A	88780127	3	1	236	1	0	0	0	0	1	0	0	0	4071	1087	38	1	980	1	CTU2	16	88780127	Missense_Mutation	SNP	G	TCGA-J9-A52E-01A-11D-A26M-08		88780127	1574626	18	11483											
ZZEF1	23140	broad.mit.edu	37	chr17	3977524	3977524	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagctgtaaatccagccccCaagacacggcaacatcgggc	12	4	11	14	2	0	1	0	0	0	1	2	2	1	2	3	3	3	3	3	3	4	1			TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr17:3977524C>A	ENST00000381638.2	-	24	3729	c.3605G>T	c.(3604-3606)tGg>tTg	p.W1202L		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1202							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						ATCCAGCCCCCAAGACACGGC	0.587													22	142					4.35082e-09	4.92329e-09	1	1	0	A	3977524	C	A	3977524	3	1	236	1	0	0	0	0	1	0	0	0	18295	595	21	4	5408	4	ZZEF1	17	3977524	Missense_Mutation	SNP	C	TCGA-J9-A52E-01A-11D-A26M-08		3977524	77217686	19	11484											
PPP4R1	9989	broad.mit.edu	37	chr18	9595085	9595085	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcgtcaacatttcatcttgtGagacaaagtccagggctgaa	12	10	10	9	1	3	2	2	2	1	1	4	3	4	2	1	1	1	1	1	1	3	2			TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr18:9595085G>A	ENST00000400556.3	-	3	192	c.119C>T	c.(118-120)tCa>tTa	p.S40L	PPP4R1_ENST00000400555.3_Missense_Mutation_p.S23L	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	40					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			large_intestine(1)|skin(2)	3						TTCATCTTGTGAGACAAAGTC	0.403													18	34					0	0	1	0	0	A	9595085	G	A	9595085	3	1	236	1	0	0	0	0	1	0	0	0	12452	1294	45	2	2805	2	PPP4R1	18	9595085	Missense_Mutation	SNP	G	TCGA-J9-A52E-01A-11D-A26M-08		9595085	68482163	20	11485											
MUC16	94025	broad.mit.edu	37	chr19	9080484	9080484	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccgtctcctctgctggggCaggccacgtggaatttcctt	4	11	11	15	2	2	0	0	0	2	0	4	1	3	1	5	4	1	2	5	4	1	2			TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr19:9080484C>A	ENST00000397910.4	-	2	9750	c.9547G>T	c.(9547-9549)Gcc>Tcc	p.A3183S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3184	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCTGCTGGGGCAGGCCACGTG	0.478													7	54					8.12818e-05	8.32171e-05	1	1	0	A	9080484	C	A	9080484	3	1	236	1	0	0	0	0	1	0	0	0	10021	710	25	4	34308	4	MUC16	19	9080484	Missense_Mutation	SNP	C	TCGA-J9-A52E-01A-11D-A26M-08		9080484	50048499	21	11486											
CEACAM16	388551	broad.mit.edu	37	chr19	45211203	45211203	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccaggacgtaacactgacCgtgcagggctaccccaagga	11	4	13	13	2	0	1	0	1	0	0	0	3	0	3	4	4	3	3	4	4	3	2			TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr19:45211203C>T	ENST00000587331.1	+	6	1226	c.1011C>T	c.(1009-1011)acC>acT	p.T337T	CTB-171A8.1_ENST00000590796.1_RNA|CEACAM16_ENST00000405314.2_Silent_p.T337T	NM_001039213.2	NP_001034302.2	A7LI12	A7LI12_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 16	337										endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				TAACACTGACCGTGCAGGGCT	0.672													4	8					0	0	1	0	0	T	45211203	C	T	45211203	2	4	236	1	0	0	0	0	0	0	0	1	3210	639	23	1		1	CEACAM16	19	45211203	Silent	SNP	C	TCGA-J9-A52E-01A-11D-A26M-08	36130719	45211203	13917780	22	11487											
NLRP4	147945	broad.mit.edu	37	chr19	56372898	56372898	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaggcatcccagctgtcGccttcagaagcttgggtgag	7	9	14	11	1	1	3	1	2	0	1	3	3	2	3	2	2	2	4	2	2	1	2			TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr19:56372898G>A	ENST00000301295.6	+	4	2425	c.2003G>A	c.(2002-2004)cGc>cAc	p.R668H	NLRP4_ENST00000587891.1_Missense_Mutation_p.R593H|NLRP4_ENST00000346986.5_Missense_Mutation_p.R668H	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	668							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CCCAGCTGTCGCCTTCAGAAG	0.557													20	39					0	0	1	0	0	A	56372898	G	A	56372898	3	1	236	1	0	0	0	0	1	0	0	0	10526	1087	38	1	2013	1	NLRP4	19	56372898	Missense_Mutation	SNP	G	TCGA-J9-A52E-01A-11D-A26M-08	11161695	56372898	2756085	23	11488											
MC3R	4159	broad.mit.edu	37	chr20	54823997	54823997	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcaaccagagcagcagcgCcttctgtgagcaggtcttca	10	7	11	13	1	3	2	1	1	2	1	3	2	3	2	2	1	6	4	2	1	1	2			TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr20:54823997C>A	ENST00000243911.2	+	1	210	c.98C>A	c.(97-99)gCc>gAc	p.A33D		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	70					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			AGCAGCAGCGCCTTCTGTGAG	0.562													31	112					1.26612e-14	1.51231e-14	1	1	0	A	54823997	C	A	54823997	3	1	236	1	0	0	0	0	1	0	0	0	9415	739	26	4	100	4	MC3R	20	54823997	Missense_Mutation	SNP	C	TCGA-J9-A52E-01A-11D-A26M-08		54823997	8201523	24	11489											
SYCP2	10388	broad.mit.edu	37	chr20	58443955	58443955	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctcttccttcactagacttgGataatgaagatgctaaatga	13	13	7	8	0	2	4	1	2	1	2	3	5	3	5	1	1	1	1	1	1	5	6			TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr20:58443955G>T	ENST00000357552.3	-	37	3992	c.3767C>A	c.(3766-3768)tCc>tAc	p.S1256Y	SYCP2_ENST00000371001.2_Missense_Mutation_p.S1256Y			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1256					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			ACTAGACTTGGATAATGAAGA	0.313													5	25					0.184627	0.184627	1	1	0	T	58443955	G	T	58443955	3	4	236	1	0	0	0	0	1	0	0	0	15489	1174	41	4	861	4	SYCP2	20	58443955	Missense_Mutation	SNP	G	TCGA-J9-A52E-01A-11D-A26M-08	3619958	58443955	4581565	25	11490											
ELFN2	114794	broad.mit.edu	37	chr22	37770517	37770517	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaggtgtactcagtgtgcGcccgcagtttgtccagcgtc	7	10	13	11	3	1	1	1	0	0	1	3	1	2	1	2	1	3	3	2	1	2	2	rs140802260	byFrequency	TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr22:37770517G>A	ENST00000402918.1	-	3	1843	c.1058C>T	c.(1057-1059)gCg>gTg	p.A353V	RP1-63G5.5_ENST00000430883.1_RNA|ELFN2_ENST00000349653.3_Missense_Mutation_p.A353V	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	353	Fibronectin type-III.					cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					CTCAGTGTGCGCCCGCAGTTT	0.587													26	76					0	0	1	0	0	A	37770517	G	A	37770517	3	1	236	1	0	0	0	0	1	0	0	0	5086	1087	38	1	1408	1	ELFN2	22	37770517	Missense_Mutation	SNP	G	TCGA-J9-A52E-01A-11D-A26M-08		37770517	13534049	26	11491											
MAFF	23764	broad.mit.edu	37	chr22	38609879	38609879	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgtctgtggatcccctaTccagcaaagctctaaaggtg	11	10	9	11	0	2	0	0	0	2	0	4	1	4	1	3	2	2	2	3	2	4	2			TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chr22:38609879T>C	ENST00000338483.2	+	2	381	c.19T>C	c.(19-21)Tcc>Ccc	p.S7P	MAFF_ENST00000538320.1_Missense_Mutation_p.S7P|MAFF_ENST00000426621.2_Missense_Mutation_p.S7P|MAFF_ENST00000407965.1_Missense_Mutation_p.S7P|MAFF_ENST00000538999.1_Intron			Q9ULX9	MAFF_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog F	7					blood coagulation|parturition|transcription from RNA polymerase II promoter	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)|skin(1)	3	Melanoma(58;0.045)					GGATCCCCTATCCAGCAAAGC	0.527													7	39					0	0	1	0	0	C	38609879	T	C	38609879	3	2	236	1	0	0	0	0	1	0	0	0	9205	1435	50	3	21	3	MAFF	22	38609879	Missense_Mutation	SNP	T	TCGA-J9-A52E-01A-11D-A26M-08	839362	38609879	12694687	27	11492											
BMX	660	broad.mit.edu	37	chrX	15574250	15574250	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtcttccattgaaccacttCgggaaaaagacaagcattga	14	10	8	9	1	1	3	0	2	1	1	3	4	2	4	2	1	2	1	2	1	4	4			TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chrX:15574250C>T	ENST00000357607.2	+	19	2196	c.2008C>T	c.(2008-2010)Cgg>Tgg	p.R670W	BMX_ENST00000348343.6_Missense_Mutation_p.R670W|BMX_ENST00000342014.6_Missense_Mutation_p.R670W			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	670	Protein kinase.		R -> W (in a lung large cell carcinoma sample; somatic mutation).		cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity	p.R670W(3)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					TGAACCACTTCGGGAAAAAGA	0.383													33	29					0	0	1	0	0	T	15574250	C	T	15574250	3	4	236	1	0	0	0	0	1	0	0	0	1472	875	31	1	2078	1	BMX	23	15574250	Missense_Mutation	SNP	C	TCGA-J9-A52E-01A-11D-A26M-08		15574250	139696310	28	11493											
SRPX2	27286	broad.mit.edu	37	chrX	99925824	99925824	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaatttcagcgcctcactcGctcctacttcaacatggtgt	8	12	7	14	2	3	0	3	0	0	0	5	0	4	0	2	1	3	2	2	1	3	3			TCGA-J9-A52E-01A-11D-A26M-08	TCGA-J9-A52E-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	840aa1ee-fa15-4fc3-b292-886ab0dbfc06	8486179b-1f5d-4f30-9d89-0672c1e73383	g.chrX:99925824G>A	ENST00000373004.3	+	11	1666	c.1238G>A	c.(1237-1239)cGc>cAc	p.R413H		NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	413					angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						CGCCTCACTCGCTCCTACTTC	0.517											OREG0019890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	14					0	0	1	0	0	A	99925824	G	A	99925824	3	1	236	1	0	0	0	0	1	0	0	0	15221	1087	38	1	1276	1	SRPX2	23	99925824	Missense_Mutation	SNP	G	TCGA-J9-A52E-01A-11D-A26M-08	84351574	99925824	55344736	29	11494											
AADACL4	343066	broad.mit.edu	37	chr1	12726318	12726318	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgacctctcctggcgtgacGccatcttgaacggcacttgt	6	12	10	13	3	2	3	0	3	2	0	3	3	2	3	3	2	1	1	3	2	1	3	rs139261871	by1000genomes	TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr1:12726318G>A	ENST00000376221.1	+	4	796	c.796G>A	c.(796-798)Gcc>Acc	p.A266T		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	266						integral to membrane	carboxylesterase activity	p.A266T(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		CTGGCGTGACGCCATCTTGAA	0.502													9	189					0	0	0.004482	0	0	A	12726318	G	A	12726318	3	1	237	1	0	0	0	0	1	0	0	0	13	1087	38	1	810	1	AADACL4	1	12726318	Missense_Mutation	SNP	G	TCGA-KC-A4BL-01A-31D-A257-08		12726318	236524303	1	11495											
ZBTB40	9923	broad.mit.edu	37	chr1	22828886	22828886	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctgagacctattatggaGtccctggaaacagccaagga	13	7	11	10	0	0	1	0	1	0	1	1	5	1	4	3	3	3	1	3	3	4	2			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr1:22828886G>T	ENST00000404138.1	+	6	1630	c.1119G>T	c.(1117-1119)gaG>gaT	p.E373D	ZBTB40_ENST00000374651.4_Intron|ZBTB40_ENST00000375647.4_Missense_Mutation_p.E373D	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	373					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CTATTATGGAGTCCCTGGAAA	0.473													6	122					0.00116845	0.00130072	0.021553	1	0	T	22828886	G	T	22828886	3	4	237	1	0	0	0	0	1	0	0	0	17601	1020	36	4	1133	4	ZBTB40	1	22828886	Missense_Mutation	SNP	G	TCGA-KC-A4BL-01A-31D-A257-08	10102568	22828886	226421735	2	11496											
ARID1A	8289	broad.mit.edu	37	chr1	27105656	27105656	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcagcaaggtgtctagtcCagctcccatggagggtgggg	7	9	16	9	0	2	0	1	0	1	0	4	1	4	1	2	5	2	3	2	5	2	2			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr1:27105656C>G	ENST00000324856.7	+	20	5638	c.5267C>G	c.(5266-5268)cCa>cGa	p.P1756R	ARID1A_ENST00000540690.1_Missense_Mutation_p.P84R|ARID1A_ENST00000457599.2_Missense_Mutation_p.P1539R|ARID1A_ENST00000374152.2_Missense_Mutation_p.P1373R	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1756					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GTGTCTAGTCCAGCTCCCATG	0.478			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								11	134					0	0	0.008291	0	0	G	27105656	C	G	27105656	3	3	237	1	0	0	0	0	1	0	0	0	910	594	21	4	5345	4	ARID1A	1	27105656	Missense_Mutation	SNP	C	TCGA-KC-A4BL-01A-31D-A257-08	4276770	27105656	222144965	3	11497											
ABCA4	24	broad.mit.edu	37	chr1	94497574	94497574	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggggtgtcgggggttgacGttttctcttttctgctgagc	3	15	15	8	2	2	2	0	2	2	0	4	2	2	2	0	4	2	3	0	4	0	5			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr1:94497574G>A	ENST00000370225.3	-	27	3974	c.3888C>T	c.(3886-3888)aaC>aaT	p.N1296N		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1296					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GGGGGTTGACGTTTTCTCTTT	0.512													5	170					0	0	0.001984	0	0	A	94497574	G	A	94497574	2	1	237	1	0	0	0	0	0	0	0	1	34	1136	40	1		1	ABCA4	1	94497574	Silent	SNP	G	TCGA-KC-A4BL-01A-31D-A257-08	67391918	94497574	154753047	4	11498											
NTRK1	4914	broad.mit.edu	37	chr1	156845394	156845394	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagctccctgtcccccacCgagggcaaaggctctgggct	6	6	13	16	1	1	0	0	0	1	0	3	1	3	0	4	4	1	5	4	4	1	0			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr1:156845394C>T	ENST00000368196.3	+	11	1539	c.1419C>T	c.(1417-1419)acC>acT	p.T473T	NTRK1_ENST00000358660.3_Silent_p.T473T|NTRK1_ENST00000392302.2_Silent_p.T443T|NTRK1_ENST00000524377.1_Silent_p.T479T	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	479	Interaction with SQSTM1 (By similarity).				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	TGTCCCCCACCGAGGGCAAAG	0.607			T	"TPM3, TPR, TFG"	papillary thyroid					TSP Lung(10;0.080)			6	97					0	0	0.021553	0	0	T	156845394	C	T	156845394	2	4	237	1	0	0	0	0	0	0	0	1	10754	639	23	1		1	NTRK1	1	156845394	Silent	SNP	C	TCGA-KC-A4BL-01A-31D-A257-08	62347820	156845394	92405227	5	11499											
EPRS	2058	broad.mit.edu	37	chr1	220213574	220213574	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccttcttcaacggaaatgctGacatcgtctttcacgtgttc	8	14	7	12	3	4	1	2	1	2	0	6	2	4	2	1	1	2	2	1	1	2	4			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr1:220213574G>A	ENST00000366923.3	-	2	353	c.84C>T	c.(82-84)gtC>gtT	p.V28V		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	28					glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	CGGAAATGCTGACATCGTCTT	0.303													7	150					0	0	0.004482	0	0	A	220213574	G	A	220213574	2	1	237	1	0	0	0	0	0	0	0	1	5219	1277	45	2		2	EPRS	1	220213574	Silent	SNP	G	TCGA-KC-A4BL-01A-31D-A257-08	63368180	220213574	29037047	6	11500											
TTN	7273	broad.mit.edu	37	chr2	179584977	179584977	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtcacttagctttttcaCgaatcgtggaggttctgatg	7	15	12	7	2	3	1	2	1	1	0	4	3	3	2	0	3	1	2	0	3	2	4	rs144032104	by1000genomes	TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr2:179584977C>T	ENST00000589042.1	-	81	23616	c.23392G>A	c.(23392-23394)Gtg>Atg	p.V7798M	TTN_ENST00000591111.1_Missense_Mutation_p.V7481M|TTN_ENST00000342992.6_Missense_Mutation_p.V6554M|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7481	Ig-like 60.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCTTTTTCACGAATCGTGGA	0.438													4	67					0	0	0.014758	0	0	T	179584977	C	T	179584977	3	4	237	1	0	0	0	0	1	0	0	0	16797	536	19	1	81265	1	TTN	2	179584977	Missense_Mutation	SNP	C	TCGA-KC-A4BL-01A-31D-A257-08		179584977	63614396	7	11501											
NCL	4691	broad.mit.edu	37	chr2	232320221	232320221	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacccccgaagccaccttcAcccttaggtttggcccagtc	7	8	8	18	2	1	0	1	0	0	0	2	2	1	0	6	2	1	1	6	2	2	3			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr2:232320221A>G	ENST00000322723.4	-	13	2187	c.1947T>C	c.(1945-1947)ggT>ggC	p.G649G		NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	649	Arg/Gly/Phe-rich.				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		AGCCACCTTCACCCTTAGGTT	0.577													39	413					0	0	0.023175	0	0	G	232320221	A	G	232320221	2	3	237	1	0	0	0	0	0	0	0	1	10273	146	6	3		3	NCL	2	232320221	Silent	SNP	A	TCGA-KC-A4BL-01A-31D-A257-08	52735244	232320221	10879152	8	11502											
GPR171	29909	broad.mit.edu	37	chr3	150917004	150917004	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taagcaggaaatcggctgtaAgcaaattaattaagtagatg	17	10	10	4	1	0	1	0	0	0	1	1	2	0	2	0	2	2	5	0	2	7	5			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr3:150917004A>C	ENST00000309180.5	-	3	400	c.170T>G	c.(169-171)cTt>cGt	p.L57R	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_013308.3	NP_037440.3	O14626	GP171_HUMAN	G protein-coupled receptor 171	57						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATCGGCTGTAAGCAAATTAAT	0.403													4	124					0	0	0.009096	0	0	C	150917004	A	C	150917004	3	2	237	1	0	0	0	0	1	0	0	0	6708	72	3	5	793	5	GPR171	3	150917004	Missense_Mutation	SNP	A	TCGA-KC-A4BL-01A-31D-A257-08		150917004	47105426	9	11503											
MECOM	2122	broad.mit.edu	37	chr3	168807797	168807797	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaggtactcacctcactgggGatgtcttgcaactcatctcc	9	11	8	13	0	5	0	3	0	2	0	6	1	5	1	2	3	3	2	2	3	3	2			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr3:168807797G>T	ENST00000464456.1	-	13	4001	c.2801C>A	c.(2800-2802)tCc>tAc	p.S934Y	MECOM_ENST00000494292.1_Missense_Mutation_p.S1122Y|MECOM_ENST00000472280.1_Missense_Mutation_p.S944Y|MECOM_ENST00000392736.3_Missense_Mutation_p.S943Y|MECOM_ENST00000433243.2_Missense_Mutation_p.S944Y|MECOM_ENST00000264674.3_Missense_Mutation_p.S1008Y|MECOM_ENST00000460814.1_Missense_Mutation_p.S934Y|MECOM_ENST00000468789.1_Missense_Mutation_p.S943Y	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CCTCACTGGGGATGTCTTGCA	0.428													5	122					0.0215528	0.0227074	0.021553	1	0	T	168807797	G	T	168807797	3	4	237	1	0	0	0	0	1	0	0	0	9472	1174	41	4	339	4	MECOM	3	168807797	Missense_Mutation	SNP	G	TCGA-KC-A4BL-01A-31D-A257-08	17890793	168807797	29214633	10	11504											
SFRP2	6423	broad.mit.edu	37	chr4	154709577	154709577	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggtcgcactcaagcatgtcGggccaggggaagccgaaggc	9	4	16	12	4	1	0	1	0	0	0	3	2	1	1	2	5	2	2	2	5	3	0			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr4:154709577G>A	ENST00000274063.4	-	1	695	c.411C>T	c.(409-411)ccC>ccT	p.P137P		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2	137	FZ.				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				CAAGCATGTCGGGCCAGGGGA	0.637													8	162					0	0	0.004482	0	0	A	154709577	G	A	154709577	2	1	237	1	0	0	0	0	0	0	0	1	14216	1103	39	1		1	SFRP2	4	154709577	Silent	SNP	G	TCGA-KC-A4BL-01A-31D-A257-08		154709577	36444699	11	11505											
HSD17B4	3295	broad.mit.edu	37	chr5	118837734	118837734	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aattttgtttaccctaacatAggttcttcatggagagcagt	11	15	8	7	0	2	1	1	0	1	1	2	2	2	1	1	2	3	3	1	2	4	8			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr5:118837734A>G	ENST00000504811.1	+	15	1468		c.e15-1		HSD17B4_ENST00000515320.1_Splice_Site|HSD17B4_ENST00000509514.1_Splice_Site|HSD17B4_ENST00000414835.2_Splice_Site|HSD17B4_ENST00000510025.1_Splice_Site|HSD17B4_ENST00000513628.1_Splice_Site|HSD17B4_ENST00000256216.6_Splice_Site	NM_001199291.1	NP_001186220.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4						bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	NADH(DB00157)	ACCCTAACATAGGTTCTTCAT	0.368													9	143					0	0	0.006214	0	0	G	118837734	A	G	118837734	5	3	237	1	0	0	0	0	0	0	1	0	7427	434	15	3	1262	3	HSD17B4	5	118837734	Splice_Site	SNP	A	TCGA-KC-A4BL-01A-31D-A257-08		118837734	62077526	12	11506											
CAMK2A	815	broad.mit.edu	37	chr5	149602668	149602668	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcgtgggatgccgccagcGtccaggtactgcgtgatgcg	5	8	17	11	5	0	1	0	1	0	0	1	2	1	2	3	2	6	1	3	2	1	1			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr5:149602668G>A	ENST00000348628.6	-	17	1982	c.1317C>T	c.(1315-1317)gaC>gaT	p.D439D	CAMK2A_ENST00000398376.3_Silent_p.D450D|CAMK2A_ENST00000351010.6_5'UTR	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II alpha	439					interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGCCGCCAGCGTCCAGGTACT	0.642													5	96					0	0	0.014758	0	0	A	149602668	G	A	149602668	2	1	237	1	0	0	0	0	0	0	0	1	2617	1136	40	1		1	CAMK2A	5	149602668	Silent	SNP	G	TCGA-KC-A4BL-01A-31D-A257-08	30764934	149602668	31312592	13	11507											
FUCA2	2519	broad.mit.edu	37	chr6	143828561	143828561	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttttccttttgccaataccaCctaaggggaggaaaggaaag	13	10	10	8	0	0	0	0	0	0	0	1	3	1	3	4	4	2	0	4	4	5	6			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr6:143828561C>T	ENST00000002165.5	-	2	280	c.224_splice	c.e2-1	p.W75_splice	FUCA2_ENST00000367585.1_Splice_Site_p.W75_splice|FUCA2_ENST00000438118.2_Splice_Site_p.W75_splice	NM_032020.4	NP_114409.2	Q9BTY2	FUCO2_HUMAN	fucosidase, alpha-L- 2, plasma	75					fucose metabolic process	extracellular region	alpha-L-fucosidase activity|cation binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)		GCCAATACCACCTAAGGGGAG	0.388													8	117					0	0	0.00308	0	0	T	143828561	C	T	143828561	5	4	237	1	0	0	0	0	0	0	1	0	6130	521	18	2	1202	2	FUCA2	6	143828561	Splice_Site	SNP	C	TCGA-KC-A4BL-01A-31D-A257-08		143828561	27286506	14	11508											
VPS13B	157680	broad.mit.edu	37	chr8	100160146	100160146	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatatattcctactcgacatAcaagtgttactctcctcaaa	14	13	3	11	1	2	0	1	0	1	0	5	1	3	0	2	0	3	1	2	0	8	6			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr8:100160146A>G	ENST00000395996.1	+	14	2032	c.1921A>G	c.(1921-1923)Aca>Gca	p.T641A	VPS13B_ENST00000355155.1_Missense_Mutation_p.T641A|VPS13B_ENST00000358544.2_Missense_Mutation_p.T641A|VPS13B_ENST00000357162.2_Missense_Mutation_p.T641A			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	641					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)			TACTCGACATACAAGTGTTAC	0.343													4	239					0	0	0.014758	0	0	G	100160146	A	G	100160146	3	3	237	1	0	0	0	0	1	0	0	0	17250	391	14	3	2013	3	VPS13B	8	100160146	Missense_Mutation	SNP	A	TCGA-KC-A4BL-01A-31D-A257-08		100160146	46203876	15	11509											
SPATC1	375686	broad.mit.edu	37	chr8	145094892	145094892	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggccttggcacccctggcCgagatgctaaccagcttgca	8	8	11	14	1	0	1	0	0	0	1	0	2	0	1	5	3	4	4	5	3	1	3	rs151043400		TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr8:145094892C>T	ENST00000377470.3	+	2	396	c.294C>T	c.(292-294)gcC>gcT	p.A98A	SPATC1_ENST00000447830.2_Silent_p.A98A	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	98										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CACCCCTGGCCGAGATGCTAA	0.637													4	129					0	0	0.014758	0	0	T	145094892	C	T	145094892	2	4	237	1	0	0	0	0	0	0	0	1	15073	639	23	1		1	SPATC1	8	145094892	Silent	SNP	C	TCGA-KC-A4BL-01A-31D-A257-08	44934746	145094892	1269130	16	11510											
PRPF19	27339	broad.mit.edu	37	chr11	60668386	60668386	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccaggatcccaggaatgcTggcactgtgcaacccctttg	8	8	12	13	0	0	0	0	0	0	0	1	2	1	2	4	4	3	3	4	4	2	1			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr11:60668386T>C	ENST00000227524.4	-	9	863	c.658A>G	c.(658-660)Agc>Ggc	p.S220G		NM_014502.4	NP_055317.1	Q9UMS4	PRP19_HUMAN	pre-mRNA processing factor 19	220					DNA repair|protein polyubiquitination|spliceosome assembly	catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex	DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						CCAGGAATGCTGGCACTGTGC	0.607													8	79					0	0	0.004482	0	0	C	60668386	T	C	60668386	3	2	237	1	0	0	0	0	1	0	0	0	12616	1580	55	3	888	3	PRPF19	11	60668386	Missense_Mutation	SNP	T	TCGA-KC-A4BL-01A-31D-A257-08		60668386	74338130	17	11511											
RELA	5970	broad.mit.edu	37	chr11	65426194	65426194	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctgatgtatacctttcTgcaccttgtcacacagtagg	8	13	7	13	0	2	1	1	1	1	0	3	1	3	1	4	1	2	3	4	1	3	5			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr11:65426194T>C	ENST00000525693.1	-	7	721	c.659A>G	c.(658-660)cAg>cGg	p.Q220R	RELA_ENST00000308639.9_Missense_Mutation_p.Q217R|RELA_ENST00000406246.3_Missense_Mutation_p.Q220R			Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	220	RHD.				anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						TATACCTTTCTGCACCTTGTC	0.562													16	146					0	0	0.028581	0	0	C	65426194	T	C	65426194	3	2	237	1	0	0	0	0	1	0	0	0	13268	1580	55	3	1016	3	RELA	11	65426194	Missense_Mutation	SNP	T	TCGA-KC-A4BL-01A-31D-A257-08	4757808	65426194	69580322	18	11512											
NADSYN1	55191	broad.mit.edu	37	chr11	71209471	71209471	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgaccacgctcacacccgCgtaccacgccgagaactaca	12	4	8	17	5	1	2	1	1	0	1	1	4	1	2	4	0	3	2	4	0	3	2			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr11:71209471C>T	ENST00000319023.2	+	20	2155	c.1967C>T	c.(1966-1968)gCg>gTg	p.A656V	NADSYN1_ENST00000539574.1_Missense_Mutation_p.A396V|NADSYN1_ENST00000530055.1_Missense_Mutation_p.A285V	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	656	Ligase (By similarity).				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CTCACACCCGCGTACCACGCC	0.522													5	187					0	0	0.001984	0	0	T	71209471	C	T	71209471	3	4	237	1	0	0	0	0	1	0	0	0	10186	768	27	1	2045	1	NADSYN1	11	71209471	Missense_Mutation	SNP	C	TCGA-KC-A4BL-01A-31D-A257-08	5783277	71209471	63797045	19	11513											
ERC1	23085	broad.mit.edu	37	chr12	1192464	1192464	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacagaggagaactttcaGaggcttcatgctgagcatga	12	9	12	8	0	2	6	2	3	0	3	2	7	2	6	0	2	3	3	0	2	1	2			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr12:1192464G>T	ENST00000397203.2	+	3	1210	c.804G>T	c.(802-804)caG>caT	p.Q268H	ERC1_ENST00000355446.5_Missense_Mutation_p.Q268H|ERC1_ENST00000543086.3_Missense_Mutation_p.Q268H|ERC1_ENST00000360905.4_Missense_Mutation_p.Q268H|ERC1_ENST00000589028.1_Missense_Mutation_p.Q268H|ERC1_ENST00000546231.2_Missense_Mutation_p.Q268H			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	268					I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			AGAACTTTCAGAGGCTTCATG	0.507													10	74					7.48243e-07	8.65614e-07	0.006214	1	0	T	1192464	G	T	1192464	3	4	237	1	0	0	0	0	1	0	0	0	5238	933	33	4	810	4	ERC1	12	1192464	Missense_Mutation	SNP	G	TCGA-KC-A4BL-01A-31D-A257-08		1192464	132659431	20	11514											
SLC39A5	283375	broad.mit.edu	37	chr12	56629464	56629464	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaacatgctggggcttttgCggcaccgagggctcaggcca	8	7	15	11	2	1	1	1	0	0	1	1	2	1	1	2	5	3	4	2	5	1	2			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr12:56629464C>T	ENST00000266980.4	+	6	1218	c.925C>T	c.(925-927)Cgg>Tgg	p.R309W	SLC39A5_ENST00000454355.2_Missense_Mutation_p.R309W	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	309					zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity	p.R308W(1)		NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGGGCTTTTGCGGCACCGAGG	0.632													5	354					0	0	0.021553	0	0	T	56629464	C	T	56629464	3	4	237	1	0	0	0	0	1	0	0	0	14676	759	27	1	943	1	SLC39A5	12	56629464	Missense_Mutation	SNP	C	TCGA-KC-A4BL-01A-31D-A257-08	55437000	56629464	77222431	21	11515											
TFDP1	7027	broad.mit.edu	37	chr13	114290866	114290866	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagatttgagtatctgtttaAttttgacaacacatttgaaa	14	16	6	5	0	1	4	0	3	1	1	1	4	1	4	0	0	1	2	0	0	4	7			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr13:114290866A>G	ENST00000375370.5	+	10	1069	c.857A>G	c.(856-858)aAt>aGt	p.N286S	TFDP1_ENST00000544902.1_Missense_Mutation_p.N191S|TFDP1_ENST00000538138.1_Missense_Mutation_p.N191S	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1	286	DCB2.|Enhances binding of RB protein to E2F.				cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			TATCTGTTTAATTTTGACAAC	0.542										TSP Lung(29;0.18)			6	128					0	0	0.00308	0	0	G	114290866	A	G	114290866	3	3	237	1	0	0	0	0	1	0	0	0	15857	101	4	3	891	3	TFDP1	13	114290866	Missense_Mutation	SNP	A	TCGA-KC-A4BL-01A-31D-A257-08		114290866	879012	22	11516											
AHNAK2	113146	broad.mit.edu	37	chr14	105419654	105419654	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggtccccctgcatggagaGgaggctcacgtcggcctcca	7	6	14	14	2	1	1	1	0	0	1	4	4	3	2	4	5	1	2	4	5	0	0	rs150847607	by1000genomes	TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr14:105419654G>A	ENST00000333244.5	-	7	2253	c.2134C>T	c.(2134-2136)Ctc>Ttc	p.L712F	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	712						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGCATGGAGAGGAGGCTCACG	0.617													5	328					0	0	0.021553	0	0	A	105419654	G	A	105419654	3	1	237	1	0	0	0	0	1	0	0	0	412	1000	35	2	15257	2	AHNAK2	14	105419654	Missense_Mutation	SNP	G	TCGA-KC-A4BL-01A-31D-A257-08		105419654	1929886	23	11517											
MGA	23269	broad.mit.edu	37	chr15	42041985	42041986	+	Frame_Shift_Del	DEL	AG	AG	-																															actgggtcacatacagatcaAgattataaagatgttaatga																										TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr15:42041985_42041986delAG	ENST00000219905.7	+	17	6361_6362	c.6180_6181delAG	c.(6178-6183)caatfs	p.QD2060fs	MGA_ENST00000389936.4_Frame_Shift_Del_p.QD2021fs|MGA_ENST00000545763.1_Frame_Shift_Del_p.QD1851fs|MGA_ENST00000570161.1_Frame_Shift_Del_p.QD2060fs|MGA_ENST00000566586.1_Frame_Shift_Del_p.QD1851fs	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	2021						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		ATACAGATCAAGATTATAAAGA	0.406													22	204	---	---	---	---						-	42041986	AG	-	42041985	7	5	237	1	0	1	0	1	0	0	0	0	9590	69	3	0	6242	0	MGA	15	42041985	Frame_Shift_Del	DEL	AG	TCGA-KC-A4BL-01A-31D-A257-08		42041985	60489407	24	11518											
NLRC5	84166	broad.mit.edu	37	chr16	57101678	57101678	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttaacctctgtgaggacgaTgatgccagttccctgctgct	7	12	11	11	1	1	2	0	2	1	0	2	4	2	3	3	1	4	4	3	1	1	2			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr16:57101678T>A	ENST00000436936.1	+	36	4662	c.4437T>A	c.(4435-4437)gaT>gaA	p.D1479E	NLRC5_ENST00000308149.7_Missense_Mutation_p.D1450E|NLRC5_ENST00000262510.6_Missense_Mutation_p.D1479E|NLRC5_ENST00000539144.1_Missense_Mutation_p.D1450E			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1479					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GTGAGGACGATGATGCCAGTT	0.507													4	159					0	0	0.009096	0	0	A	57101678	T	A	57101678	3	1	237	1	0	0	0	0	1	0	0	0	10517	1461	51	5	4571	5	NLRC5	16	57101678	Missense_Mutation	SNP	T	TCGA-KC-A4BL-01A-31D-A257-08		57101678	33253075	25	11519											
TP53	7157	broad.mit.edu	37	chr17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgggcctccggttcatgcCgcccatgcaggaactgttac	7	9	12	13	2	1	0	1	0	0	0	2	2	2	1	4	3	4	3	4	3	2	2	rs28934575		TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr17:7577548C>T	ENST00000420246.2	-	7	865	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000269305.4_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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)		CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	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)			5	95					0	0	0.014758	0	0	T	7577548	C	T	7577548	3	4	237	1	0	0	0	0	1	0	0	0	16442	652	23	1	557	1	TP53	17	7577548	Missense_Mutation	SNP	C	TCGA-KC-A4BL-01A-31D-A257-08		7577548	73617662	26	11520											
KRTAP9-2	83899	broad.mit.edu	37	chr17	39383026	39383026	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacaccctgctgccagccCgcctgctgtgtgtccagctg	5	8	11	17	1	0	0	0	0	0	0	1	0	1	0	5	0	6	4	5	0	0	0			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr17:39383026C>T	ENST00000377721.3	+	1	127	c.120C>T	c.(118-120)ccC>ccT	p.P40P	KRTAP9-2_ENST00000455970.2_Silent_p.P40P	NM_031961.2	NP_114167.2	Q9BYQ4	KRA92_HUMAN	keratin associated protein 9-2	40	17 X 5 AA repeats of C-C-[RQVSGE]-[SPTQ]- [TASP].					keratin filament	protein binding			large_intestine(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			GCTGCCAGCCCGCCTGCTGTG	0.637													10	183					0	0	0.010729	0	0	T	39383026	C	T	39383026	2	4	237	1	0	0	0	0	0	0	0	1	8612	639	23	1		1	KRTAP9-2	17	39383026	Silent	SNP	C	TCGA-KC-A4BL-01A-31D-A257-08	31805478	39383026	41812184	27	11521											
CBX4	8535	broad.mit.edu	37	chr17	77807801	77807801	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtaacggtgaggcagttcGcggtgacgtcggtgataatt	10	10	15	6	5	0	3	0	3	0	0	2	3	0	3	0	4	1	3	0	4	3	4			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr17:77807801G>A	ENST00000269397.4	-	5	1817	c.1640C>T	c.(1639-1641)gCg>gTg	p.A547V		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	547	Interaction with RNF2.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GAGGCAGTTCGCGGTGACGTC	0.622													7	141					0	0	0.004482	0	0	A	77807801	G	A	77807801	3	1	237	1	0	0	0	0	1	0	0	0	2738	1087	38	1	46	1	CBX4	17	77807801	Missense_Mutation	SNP	G	TCGA-KC-A4BL-01A-31D-A257-08	38424775	77807801	3387409	28	11522											
SEH1L	81929	broad.mit.edu	37	chr18	12986964	12986964	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctctggtagagcactcttgcGatgctgacactgccaacctc	8	10	9	14	1	2	2	0	1	2	1	3	3	2	2	2	1	5	3	2	1	2	2	rs142773894		TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr18:12986964G>A	ENST00000399892.2	+	9	1275	c.1174G>A	c.(1174-1176)Gat>Aat	p.D392N	RP11-773H22.4_ENST00000588211.1_RNA|SEH1L_ENST00000262124.11_3'UTR	NM_001013437.1	NP_001013455.1	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)	0					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						GCACTCTTGCGATGCTGACAC	0.527													7	93					0	0	0.00308	0	0	A	12986964	G	A	12986964	3	1	237	1	0	0	0	0	1	0	0	0	14063	1058	37	1	1225	1	SEH1L	18	12986964	Missense_Mutation	SNP	G	TCGA-KC-A4BL-01A-31D-A257-08		12986964	65090284	29	11523											
SBSN	374897	broad.mit.edu	37	chr19	36018502	36018502	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaccggcagcatggtggaTcccctggccaaacttctctg	7	9	11	14	1	1	1	0	1	1	0	3	2	2	2	4	4	2	2	4	4	1	1			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr19:36018502T>C	ENST00000452271.2	-	1	710	c.682A>G	c.(682-684)Atc>Gtc	p.I228V	SBSN_ENST00000518157.1_Intron	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	101						extracellular region				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCATGGTGGATCCCCTGGCCA	0.632													3	13					0	0	0.009096	0	0	C	36018502	T	C	36018502	3	2	237	1	0	0	0	0	1	0	0	0	13917	1435	50	3	1106	3	SBSN	19	36018502	Missense_Mutation	SNP	T	TCGA-KC-A4BL-01A-31D-A257-08		36018502	23110481	30	11524											
ZNF615	284370	broad.mit.edu	37	chr19	52496292	52496292	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgcagtcactgcatttgtaCggtttctctcctgtgtgaat	6	15	9	11	2	2	1	1	1	1	0	4	1	3	1	2	1	2	4	2	1	2	3	rs146634089		TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr19:52496292C>T	ENST00000602063.1	-	6	2386	c.2037G>A	c.(2035-2037)ccG>ccA	p.P679P	ZNF615_ENST00000594083.1_Silent_p.P690P|ZNF615_ENST00000598071.1_Silent_p.P690P|ZNF615_ENST00000391795.3_Silent_p.P684P|ZNF615_ENST00000376716.5_Silent_p.P679P			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	679					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P679P(1)|p.P690P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TGCATTTGTACGGTTTCTCTC	0.408													11	185					0	0	0.008291	0	0	T	52496292	C	T	52496292	2	4	237	1	0	0	0	0	0	0	0	1	18097	523	19	1		1	ZNF615	19	52496292	Silent	SNP	C	TCGA-KC-A4BL-01A-31D-A257-08	16477790	52496292	6632691	31	11525											
LILRA5	353514	broad.mit.edu	37	chr19	54822827	54822827	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctggaactgcccactggggGtcagctgtgagtccaaggtc	7	8	14	12	0	1	1	1	1	0	0	3	2	2	2	3	4	3	1	3	4	2	0			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr19:54822827G>A	ENST00000301219.3	-	5	688	c.569C>T	c.(568-570)aCc>aTc	p.T190I	LILRA5_ENST00000432233.3_Missense_Mutation_p.T190I|LILRA5_ENST00000346508.3_Missense_Mutation_p.T178I|LILRA5_ENST00000446712.3_Missense_Mutation_p.T178I|AC008984.2_ENST00000507363.1_RNA	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	190	Ig-like C2-type 2.				innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCCACTGGGGGTCAGCTGTGA	0.597													4	71					0	0	0.009096	0	0	A	54822827	G	A	54822827	3	1	237	1	0	0	0	0	1	0	0	0	8828	1261	44	2	428	2	LILRA5	19	54822827	Missense_Mutation	SNP	G	TCGA-KC-A4BL-01A-31D-A257-08	2326535	54822827	4306156	32	11526											
ZMYND8	23613	broad.mit.edu	37	chr20	45927599	45927599	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggtgacaaacccagcagtaGaaatcattccgtccatcctg	12	8	8	13	2	1	2	1	1	0	1	4	2	4	2	4	1	2	2	4	1	3	2			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr20:45927599G>C	ENST00000311275.7	-	4	520	c.267C>G	c.(265-267)ttC>ttG	p.F89L	ZMYND8_ENST00000352431.2_Missense_Mutation_p.F109L|ZMYND8_ENST00000458360.2_Missense_Mutation_p.F84L|ZMYND8_ENST00000360911.3_Missense_Mutation_p.F84L|ZMYND8_ENST00000355972.4_Missense_Mutation_p.F89L|ZMYND8_ENST00000540497.1_Missense_Mutation_p.F84L|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000536340.1_Missense_Mutation_p.F116L|ZMYND8_ENST00000396281.4_Missense_Mutation_p.F89L|ZMYND8_ENST00000372023.3_Missense_Mutation_p.F84L|ZMYND8_ENST00000262975.4_Missense_Mutation_p.F89L|ZMYND8_ENST00000461685.1_Missense_Mutation_p.F109L|ZMYND8_ENST00000446994.2_Missense_Mutation_p.F64L|ZMYND8_ENST00000471951.2_Missense_Mutation_p.F109L			Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	89							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			CCCAGCAGTAGAAATCATTCC	0.502													4	85					0	0	0.009096	0	0	C	45927599	G	C	45927599	3	2	237	1	0	0	0	0	1	0	0	0	17769	933	33	4	3319	4	ZMYND8	20	45927599	Missense_Mutation	SNP	G	TCGA-KC-A4BL-01A-31D-A257-08		45927599	17097921	33	11527											
CDK11A	728642	broad.mit.edu	37	chr1	1654058	1654058	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggaagtacaaaagaacttcaCcgaagaagcgttgttctaat	16	9	9	7	2	2	2	1	0	1	2	2	4	2	3	1	1	3	3	1	1	8	5	rs61777495	by1000genomes	TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr1:1654058C>T	ENST00000356200.3	-	0	212				CDK11A_ENST00000378638.2_De_novo_Start_OutOfFrame|CDK11A_ENST00000357760.2_Intron|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000358779.5_Intron|CDK11A_ENST00000378635.3_Intron|CDK11A_ENST00000404249.3_Intron|CDK11A_ENST00000378633.1_Intron					cyclin-dependent kinase 11A											central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						AAGAACTTCACCGAAGAAGCG	0.338													3	36					0	0	1	0	0	T	1654058	C	T	1654058	1	4	238	1	0	0	0	0	0	0	0	0	3148	522	18	2		2	CDK11A	1	1654058	Translation_Start_Site	SNP	C	TCGA-KC-A4BN-01A-61D-A257-08		1654058	247596563	1	11528											
NEGR1	257194	broad.mit.edu	37	chr1	72241872	72241872	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tacctgatggggagatgtgtCgccaagaaatggaaggctct	11	9	14	7	1	1	3	0	1	1	2	2	5	1	4	2	4	1	1	2	4	4	1			TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr1:72241872C>T	ENST00000357731.4	-	3	757	c.518G>A	c.(517-519)cGa>cAa	p.R173Q	NEGR1_ENST00000306821.3_Missense_Mutation_p.R45Q|NEGR1_ENST00000467479.1_5'UTR|NEGR1_ENST00000434200.1_Missense_Mutation_p.R171Q	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1	173	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		GGAGATGTGTCGCCAAGAAAT	0.418													3	38					0	0	1	0	0	T	72241872	C	T	72241872	3	4	238	1	0	0	0	0	1	0	0	0	10364	884	31	1	566	1	NEGR1	1	72241872	Missense_Mutation	SNP	C	TCGA-KC-A4BN-01A-61D-A257-08	70587814	72241872	177008749	2	11529											
GNAT2	2780	broad.mit.edu	37	chr1	110146052	110146052	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaacacaaatttgacattcTgtgtatctgtagcacaggtc	13	12	7	9	0	2	1	0	1	2	0	3	1	2	1	0	1	2	3	0	1	4	4			TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr1:110146052T>A	ENST00000351050.3	-	8	1175	c.989A>T	c.(988-990)cAg>cTg	p.Q330L		NM_005272.3	NP_005263.1	P19087	GNAT2_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2	330					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	G-protein beta/gamma-subunit complex binding|G-protein coupled photoreceptor activity|G-protein-coupled receptor binding|GTP binding|GTPase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	14		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227)		TTTGACATTCTGTGTATCTGT	0.403													4	61					0	0	1	0	0	A	110146052	T	A	110146052	3	1	238	1	0	0	0	0	1	0	0	0	6554	1580	55	5	79	5	GNAT2	1	110146052	Missense_Mutation	SNP	T	TCGA-KC-A4BN-01A-61D-A257-08	37904180	110146052	139104569	3	11530											
NBPF15	284565	broad.mit.edu	37	chr1	148594407	148594407	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttttccaggctctacggcGtgctgatggaagtggaagag	8	10	14	9	2	1	2	0	1	1	1	2	4	2	4	2	4	2	2	2	4	3	3	rs144416833	byFrequency	TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr1:148594407G>A	ENST00000442702.2	+	21	2847	c.1780G>A	c.(1780-1782)Gtg>Atg	p.V594M	NBPF15_ENST00000369187.3_Missense_Mutation_p.V594M	NM_001170755.1	NP_001164226.1	Q8N660	NBPFF_HUMAN	neuroblastoma breakpoint family, member 15	594	NBPF 6.					cytoplasm				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12	all_hematologic(923;0.032)					GCTCTACGGCGTGCTGATGGA	0.458													13	286					0	0	1	0	0	A	148594407	G	A	148594407	3	1	238	1	0	0	0	0	1	0	0	0	10243	1145	40	1	1838	1	NBPF15	1	148594407	Missense_Mutation	SNP	G	TCGA-KC-A4BN-01A-61D-A257-08	38448355	148594407	100656214	4	11531											
IFI16	3428	broad.mit.edu	37	chr1	158984677	158984677	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcaaactaataaaaattttCgaagatataccaacgcttga	18	10	6	7	2	0	2	0	1	0	1	1	3	0	2	1	1	3	2	1	1	9	7	rs144369567	byFrequency	TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr1:158984677C>T	ENST00000295809.7	+	2	462	c.207C>T	c.(205-207)ttC>ttT	p.F69F	IFI16_ENST00000368131.4_Silent_p.F69F|IFI16_ENST00000368132.3_Silent_p.F69F|IFI16_ENST00000430894.2_Silent_p.F73F|IFI16_ENST00000448393.2_Silent_p.F69F|IFI16_ENST00000340979.6_Silent_p.F69F|IFI16_ENST00000359709.3_Silent_p.F69F			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	69	DAPIN.|Lys-rich.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					TAAAAATTTTCGAAGATATAC	0.388													18	74					0	0	1	0	0	T	158984677	C	T	158984677	2	4	238	1	0	0	0	0	0	0	0	1	7555	883	31	1		1	IFI16	1	158984677	Silent	SNP	C	TCGA-KC-A4BN-01A-61D-A257-08	10390270	158984677	90265944	5	11532											
C2orf16	84226	broad.mit.edu	37	chr2	27804618	27804618	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcccgctcggaggagccatCgcagtccctcagagagaagc	9	5	13	14	3	1	2	1	0	0	2	5	5	3	4	3	2	2	2	3	2	1	0			TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr2:27804618C>A	ENST00000408964.2	+	1	5230	c.5179C>A	c.(5179-5181)Cgc>Agc	p.R1727S		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1727	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GAGGAGCCATCGCAGTCCCTC	0.562													9	276					1.12685e-05	1.1962e-05	1	1	0	A	27804618	C	A	27804618	3	1	238	1	0	0	0	0	1	0	0	0	2171	884	31	4	5181	4	C2orf16	2	27804618	Missense_Mutation	SNP	C	TCGA-KC-A4BN-01A-61D-A257-08		27804618	215394755	6	11533											
VCAN	1462	broad.mit.edu	37	chr5	82833276	82833276	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttacatggaagcctgagaCttaccctgaaacatcagaac	15	8	8	10	0	1	3	1	2	0	2	1	5	1	4	2	1	5	1	2	1	5	2			TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr5:82833276C>T	ENST00000265077.3	+	8	5019	c.4454C>T	c.(4453-4455)aCt>aTt	p.T1485I	VCAN_ENST00000512590.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.T498I|VCAN-AS1_ENST00000512090.1_RNA	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1485	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AAGCCTGAGACTTACCCTGAA	0.423													4	68					0	0	1	0	0	T	82833276	C	T	82833276	3	4	238	1	0	0	0	0	1	0	0	0	17198	565	20	2	4480	2	VCAN	5	82833276	Missense_Mutation	SNP	C	TCGA-KC-A4BN-01A-61D-A257-08		82833276	98081984	7	11534											
ZNF354B	117608	broad.mit.edu	37	chr5	178310629	178310629	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaatgtgggagagccttcagCcagagtgcctctcttattca	9	11	11	10	0	3	2	2	0	1	2	4	4	3	2	3	1	3	0	3	1	2	3			TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr5:178310629C>T	ENST00000322434.3	+	5	1402	c.1176C>T	c.(1174-1176)agC>agT	p.S392S		NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	392					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGCCTTCAGCCAGAGTGCCT	0.423													4	70					0	0	1	0	0	T	178310629	C	T	178310629	2	4	238	1	0	0	0	0	0	0	0	1	17922	738	26	2		2	ZNF354B	5	178310629	Silent	SNP	C	TCGA-KC-A4BN-01A-61D-A257-08	95477353	178310629	2604631	8	11535											
FAM65B	9750	broad.mit.edu	37	chr6	24848254	24848254	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaattacactgaacttacaAagaaggagtggtctttgaag	16	10	10	5	0	1	3	0	2	1	1	1	5	1	4	0	2	3	0	0	2	7	3			TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr6:24848254A>C	ENST00000259698.4	-	12	1251	c.1077_splice	c.e12+1	p.F359_splice	FAM65B_ENST00000510784.2_Splice_Site_p.F393_splice|FAM65B_ENST00000378023.4_Splice_Site_p.F359_splice|FAM65B_ENST00000538035.1_Splice_Site_p.F388_splice|FAM65B_ENST00000540914.1_Splice_Site_p.F359_splice	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	359					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						TGAACTTACAAAGAAGGAGTG	0.507													16	44					0	0	1	0	0	C	24848254	A	C	24848254	5	2	238	1	0	0	0	0	0	0	1	0	5635	28	1	5	2188	5	FAM65B	6	24848254	Splice_Site	SNP	A	TCGA-KC-A4BN-01A-61D-A257-08		24848254	146266813	9	11536											
LPA	4018	broad.mit.edu	37	chr6	161027631	161027631	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctgacactgggatccctcGtataacaataaggggctgcc	11	8	10	12	1	0	1	0	1	0	0	2	2	1	2	3	3	2	2	3	3	4	3			TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr6:161027631G>A	ENST00000447678.1	-	18	2783	c.2663C>T	c.(2662-2664)aCg>aTg	p.T888M	LPA_ENST00000316300.5_Missense_Mutation_p.T888M	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3396	Kringle 8.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GGGATCCCTCGTATAACAATA	0.522													45	182					0	0	1	0	0	A	161027631	G	A	161027631	3	1	238	1	0	0	0	0	1	0	0	0	8948	1145	40	1	3551	1	LPA	6	161027631	Missense_Mutation	SNP	G	TCGA-KC-A4BN-01A-61D-A257-08	136179377	161027631	10087436	10	11537											
BRAF	673	broad.mit.edu	37	chr7	140453145	140453145	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcgagatttcactgtagctAgaccaaaatcacctattttt	13	14	5	9	1	2	2	2	0	0	2	3	3	2	2	2	0	1	2	2	0	5	6	rs121913368		TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr7:140453145A>C	ENST00000288602.6	-	15	1850	c.1790T>G	c.(1789-1791)cTa>cGa	p.L597R		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	597	Protein kinase.		L -> R (in LNCR; also found in an ovarian serous carcinoma sample; somatic mutation).|L -> V (in NS7; also in a lung adenocarcinoma sample; somatic mutation; elevated kinase activity; efficiently induces cell transformation).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.L597R(14)|p.L597S(9)|p.L597Q(8)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	CACTGTAGCTAGACCAAAATC	0.383		61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				5	92					0	0	1	0	0	C	140453145	A	C	140453145	3	2	238	1	0	0	0	0	1	0	0	0	1498	420	15	5	526	5	BRAF	7	140453145	Missense_Mutation	SNP	A	TCGA-KC-A4BN-01A-61D-A257-08		140453145	18685518	11	11538											
TP53INP1	0	broad.mit.edu	37	chr8	95952351	95952351	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaagcactcaagagatgcCggtaaacaggaaaagactga	17	4	11	9	1	1	3	1	1	0	2	1	5	1	4	2	2	3	2	2	2	6	1	rs141483665		TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr8:95952351C>T	ENST00000342697.4	-	3	617	c.210G>A	c.(208-210)ccG>ccA	p.P70P	TP53INP1_ENST00000448464.2_Silent_p.P70P|TP53INP1_ENST00000378776.4_Silent_p.P70P|NDUFAF6_ENST00000396113.1_Intron	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	70					apoptosis	PML body				kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					CAAGAGATGCCGGTAAACAGG	0.473													3	33					0	0	1	0	0	T	95952351	C	T	95952351	2	4	238	1	0	0	0	0	0	0	0	1	16449	639	23	1		1	TP53INP1	8	95952351	Silent	SNP	C	TCGA-KC-A4BN-01A-61D-A257-08		95952351	50411671	12	11539											
RIMS2	9699	broad.mit.edu	37	chr8	104934014	104934014	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttatcaggacaactttcagTatgtagtcattacgtttact	11	16	6	8	1	3	0	3	0	0	0	3	1	3	1	0	1	3	3	0	1	6	7			TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr8:104934014T>A	ENST00000507740.1	+	8	1856		c.e8+2		RIMS2_ENST00000262231.10_Splice_Site|RIMS2_ENST00000406091.3_Splice_Site|RIMS2_ENST00000436393.2_Splice_Site	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2						intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CAACTTTCAGTATGTAGTCAT	0.338										HNSCC(12;0.0054)			7	47					0	0	1	0	0	A	104934014	T	A	104934014	5	1	238	1	0	0	0	0	0	0	1	0	13420	1652	57	5	2362	5	RIMS2	8	104934014	Splice_Site	SNP	T	TCGA-KC-A4BN-01A-61D-A257-08	8981663	104934014	41430008	13	11540											
TUBB8	347688	broad.mit.edu	37	chr10	93834	93835	+	Frame_Shift_Del	DEL	TG	TG	-																															ggcgagggcaggatgctgaaTgtgtttatgatcctgtctgg																										TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr10:93834_93835delTG	ENST00000447903.2	-	4	596_597	c.281_282delCA	c.(280-282)afs	p.T94fs	TUBB8_ENST00000309812.4_Frame_Shift_Del_p.T166fs|TUBB8_ENST00000332708.5_3'UTR|TUBB8_ENST00000413237.3_5'UTR			Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	166					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		GGATGCTGAATGTGTTTATGAT	0.584													8	199	---	---	---	---						-	93835	TG	-	93834	7	5	238	1	0	1	0	1	0	0	0	0	16823	1451	51	0	840	0	TUBB8	10	93834	Frame_Shift_Del	DEL	TG	TCGA-KC-A4BN-01A-61D-A257-08		93834	135440913	14	11541											
MYO3A	53904	broad.mit.edu	37	chr10	26465766	26465766	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgagtttcttctcagcagtGcctctcaggtaaaaatcagt	11	12	8	10	1	4	0	3	0	3	0	6	1	4	0	1	1	2	3	1	1	3	3			TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr10:26465766G>T	ENST00000265944.5	+	31	4596	c.4430G>T	c.(4429-4431)tGc>tTc	p.C1477F	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1477					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TCTCAGCAGTGCCTCTCAGGT	0.373													4	58					0.000602214	0.000620191	1	1	0	T	26465766	G	T	26465766	3	4	238	1	0	0	0	0	1	0	0	0	10124	1319	46	4	4544	4	MYO3A	10	26465766	Missense_Mutation	SNP	G	TCGA-KC-A4BN-01A-61D-A257-08	26371932	26465766	109068981	15	11542											
PDHX	8050	broad.mit.edu	37	chr11	34991708	34991708	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacattcactgaaatccccgCcagcaatattcgaagagtta	14	9	6	12	2	1	2	1	1	0	1	3	3	2	2	3	0	1	2	3	0	5	4			TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr11:34991708C>T	ENST00000448838.3	+	7	1036	c.794C>T	c.(793-795)gCc>gTc	p.A265V	PDHX_ENST00000227868.4_Missense_Mutation_p.A280V|PDHX_ENST00000430469.2_Intron	NM_001135024.1|NM_003477.2	NP_001128496.1|NP_003468.2	O00330	ODPX_HUMAN	pyruvate dehydrogenase complex, component X	280					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	16	all_epithelial(35;0.115)|Lung NSC(22;0.218)|all_lung(20;0.242)	all_hematologic(20;0.124)	STAD - Stomach adenocarcinoma(6;0.00113)			GAAATCCCCGCCAGCAATATT	0.383													12	44					0	0	1	0	0	T	34991708	C	T	34991708	3	4	238	1	0	0	0	0	1	0	0	0	11714	739	26	2	984	2	PDHX	11	34991708	Missense_Mutation	SNP	C	TCGA-KC-A4BN-01A-61D-A257-08		34991708	100014808	16	11543											
FOLH1B	219595	broad.mit.edu	37	chr11	89395322	89395322	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatttttttttttcagaataCgcttataggcatggaattgc	11	18	7	5	1	1	1	1	0	0	1	1	2	1	2	0	2	2	2	0	2	6	9			TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr11:89395322C>T	ENST00000532352.1	+	0	720							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TTTCAGAATACGCTTATAGGC	0.343													3	40					0	0	1	0	0	T	89395322	C	T	89395322	1	4	238	0	1	0	0	0	0	0	0	0	6013	551	19	1		1	FOLH1B	11	89395322	RNA	SNP	C	TCGA-KC-A4BN-01A-61D-A257-08	54403614	89395322	45611194	17	11544											
BICD1	636	broad.mit.edu	37	chr12	32481467	32481467	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagatcgccacattgagggCggtgttgaaagccaacaagc	12	6	13	10	2	0	3	0	2	0	1	1	3	0	3	2	2	3	2	2	2	3	2			TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr12:32481467C>T	ENST00000548411.1	+	5	2259	c.2078C>T	c.(2077-2079)gCg>gTg	p.A693V	BICD1_ENST00000281474.5_Missense_Mutation_p.A693V	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	693	Interacts with RAB6A.				anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			ACATTGAGGGCGGTGTTGAAA	0.443													14	76					0	0	1	0	0	T	32481467	C	T	32481467	3	4	238	1	0	0	0	0	1	0	0	0	1427	768	27	1	2096	1	BICD1	12	32481467	Missense_Mutation	SNP	C	TCGA-KC-A4BN-01A-61D-A257-08		32481467	101370428	18	11545											
SETDB2	83852	broad.mit.edu	37	chr13	50051103	50051103	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagaaagactgtgtggcctcGagcatataatctaaccaact	14	9	8	10	1	1	2	0	0	1	2	2	3	1	2	2	1	3	1	2	1	5	3			TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr13:50051103G>A	ENST00000354234.4	+	6	1703	c.797G>A	c.(796-798)cGa>cAa	p.R266Q	SETDB2_ENST00000258672.5_Missense_Mutation_p.R266Q|SETDB2_ENST00000317257.8_Missense_Mutation_p.R278Q	NM_001160308.1	NP_001153780.1	Q96T68	SETB2_HUMAN	SET domain, bifurcated 2	278					cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding	p.R278Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		GTGTGGCCTCGAGCATATAAT	0.408													4	79					0	0	1	0	0	A	50051103	G	A	50051103	3	1	238	1	0	0	0	0	1	0	0	0	14193	1058	37	1	855	1	SETDB2	13	50051103	Missense_Mutation	SNP	G	TCGA-KC-A4BN-01A-61D-A257-08		50051103	65118775	19	11546											
OR4Q3	441669	broad.mit.edu	37	chr14	20216043	20216043	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttcttgcctgctggtgtgggGgttttatccactctatcatg	4	17	11	9	0	3	0	1	0	2	0	4	0	4	0	2	3	2	2	2	3	2	5			TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr14:20216043G>A	ENST00000331723.1	+	1	457	c.457G>A	c.(457-459)Ggt>Agt	p.G153S		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTGGTGTGGGGGTTTTATCCA	0.498													10	39					0	0	1	0	0	A	20216043	G	A	20216043	3	1	238	1	0	0	0	0	1	0	0	0	11129	1232	43	2	459	2	OR4Q3	14	20216043	Missense_Mutation	SNP	G	TCGA-KC-A4BN-01A-61D-A257-08		20216043	87133497	20	11547											
BAHD1	22893	broad.mit.edu	37	chr15	40750961	40750961	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgcctgacctgcccaagcccCccagcccggccccatccagt	6	4	8	23	2	0	1	0	1	0	0	1	1	1	1	10	1	3	0	10	1	1	0			TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr15:40750961C>T	ENST00000561234.1	+	2	557	c.298C>T	c.(298-300)Ccc>Tcc	p.P100S	BAHD1_ENST00000560846.1_Missense_Mutation_p.P100S|BAHD1_ENST00000416165.1_Missense_Mutation_p.P100S			Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	100					heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		GCCCAAGCCCCCCAGCCCGGC	0.657													9	73					0	0	1	0	0	T	40750961	C	T	40750961	3	4	238	1	0	0	0	0	1	0	0	0	1295	623	22	2	300	2	BAHD1	15	40750961	Missense_Mutation	SNP	C	TCGA-KC-A4BN-01A-61D-A257-08		40750961	61780431	21	11548											
SLC30A4	7782	broad.mit.edu	37	chr15	45777429	45777429	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctgtaactctgaagctgaaTagtacatctatacatgccaa	14	11	6	10	0	2	2	0	2	2	0	2	2	2	2	2	0	5	3	2	0	8	5			TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr15:45777429T>C	ENST00000261867.4	-	8	1536	c.1222A>G	c.(1222-1224)Att>Gtt	p.I408V	RP11-519G16.3_ENST00000560647.1_RNA|RP11-519G16.3_ENST00000558536.1_RNA	NM_013309.4	NP_037441.2	O14863	ZNT4_HUMAN	solute carrier family 30 (zinc transporter), member 4	408					regulation of sequestering of zinc ion|response to toxin	endosome membrane|integral to membrane|late endosome	zinc ion transmembrane transporter activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)		TGAAGCTGAATAGTACATCTA	0.378													3	34					0	0	1	0	0	C	45777429	T	C	45777429	3	2	238	1	0	0	0	0	1	0	0	0	14612	1406	49	3	71	3	SLC30A4	15	45777429	Missense_Mutation	SNP	T	TCGA-KC-A4BN-01A-61D-A257-08	5026468	45777429	56753963	22	11549											
TAOK2	9344	broad.mit.edu	37	chr16	30002225	30002225	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccgcacagagagccagcacGagagggagctgcgggagctg	10	3	17	11	3	0	2	0	0	0	2	1	6	1	4	2	2	5	4	2	2	0	0			TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr16:30002225G>A	ENST00000279394.3	+	18	2969	c.2566G>A	c.(2566-2568)Gag>Aag	p.E856K		NM_004783.3	NP_004774.1	Q9UL54	TAOK2_HUMAN	TAO kinase 2	737	Glu-rich.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GAGCCAGCACGAGAGGGAGCT	0.662													6	96					0	0	1	0	0	A	30002225	G	A	30002225	3	1	238	1	0	0	0	0	1	0	0	0	15605	1059	37	1	4108	1	TAOK2	16	30002225	Missense_Mutation	SNP	G	TCGA-KC-A4BN-01A-61D-A257-08		30002225	60352528	23	11550											
KLHL36	79786	broad.mit.edu	37	chr16	84695401	84695401	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgggggcagcgatgacaacAtcgagtccatggagcgcttc	9	7	14	11	4	0	1	0	1	0	0	4	4	1	2	1	3	3	2	1	3	1	1	rs149485033	byFrequency	TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr16:84695401A>G	ENST00000564996.1	+	5	1654	c.1513A>G	c.(1513-1515)Atc>Gtc	p.I505V	KLHL36_ENST00000258157.5_Missense_Mutation_p.I442V	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	505										endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CGATGACAACATCGAGTCCAT	0.682													3	37					0	0	1	0	0	G	84695401	A	G	84695401	3	3	238	1	0	0	0	0	1	0	0	0	8432	217	8	3	1527	3	KLHL36	16	84695401	Missense_Mutation	SNP	A	TCGA-KC-A4BN-01A-61D-A257-08	54693176	84695401	5659352	24	11551											
ARRDC2	27106	broad.mit.edu	37	chr19	18119525	18119525	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctcctacctgcagataccGgggagaccacgacgctgcct	8	8	10	15	3	1	2	0	0	1	2	2	4	1	2	5	2	4	2	5	2	2	3			TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr19:18119525G>A	ENST00000222250.4	+	2	423	c.280G>A	c.(280-282)Ggg>Agg	p.G94R	ARRDC2_ENST00000595712.1_3'UTR|ARRDC2_ENST00000379656.2_Missense_Mutation_p.G89R	NM_015683.1	NP_056498.1	Q8TBH0	ARRD2_HUMAN	arrestin domain containing 2	94										endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)	12						TGCAGATACCGGGGAGACCAC	0.647													22	110					0	0	1	0	0	A	18119525	G	A	18119525	3	1	238	1	0	0	0	0	1	0	0	0	982	1116	39	1	549	1	ARRDC2	19	18119525	Missense_Mutation	SNP	G	TCGA-KC-A4BN-01A-61D-A257-08		18119525	41009458	25	11552											
ZNF430	80264	broad.mit.edu	37	chr19	21239844	21239844	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtggtaaagtctttaacTggttctcaacccttactaga	12	14	7	8	0	2	1	1	0	2	1	3	1	2	1	1	2	3	2	1	2	7	6			TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr19:21239844T>C	ENST00000261560.5	+	5	911	c.730T>C	c.(730-732)Tgg>Cgg	p.W244R		NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	244					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						AGTCTTTAACTGGTTCTCAAC	0.363													10	37					0	0	1	0	0	C	21239844	T	C	21239844	3	2	238	1	0	0	0	0	1	0	0	0	17961	1580	55	3	748	3	ZNF430	19	21239844	Missense_Mutation	SNP	T	TCGA-KC-A4BN-01A-61D-A257-08	3120319	21239844	37889139	26	11553											
ESF1	51575	broad.mit.edu	37	chr20	13695683	13695683	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtaagttcttgttctttccgTtctctttgccgggccttctc	2	19	8	12	2	4	0	0	0	4	0	7	0	5	0	3	1	1	4	3	1	1	8			TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chr20:13695683T>C	ENST00000202816.1	-	14	2501	c.2394A>G	c.(2392-2394)gaA>gaG	p.E798E		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	798	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						GTTCTTTCCGTTCTCTTTGCC	0.398													29	121					0	0	1	0	0	C	13695683	T	C	13695683	2	2	238	1	0	0	0	0	0	0	0	1	5279	1722	60	3		3	ESF1	20	13695683	Silent	SNP	T	TCGA-KC-A4BN-01A-61D-A257-08		13695683	49329837	27	11554											
RBM10	8241	broad.mit.edu	37	chrX	47030582	47030582	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggaggaggaggaggaggaGgatgaggaggaggaggagaa	15	1	25	0	0	0	2	0	1	0	1	0	14	0	12	0	11	0	0	0	11	1	0			TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chrX:47030582G>T	ENST00000377604.3	+	4	1099	c.357G>T	c.(355-357)gaG>gaT	p.E119D	RBM10_ENST00000329236.7_Intron|RBM10_ENST00000345781.6_Intron|RBM10_ENST00000468791.1_3'UTR	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	119	Poly-Glu.				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						aggaggaggaggatgaggagg	0.662													3	11					0.004672	0.00474071	1	1	0	T	47030582	G	T	47030582	3	4	238	1	0	0	0	0	1	0	0	0	13163	991	35	4	367	4	RBM10	23	47030582	Missense_Mutation	SNP	G	TCGA-KC-A4BN-01A-61D-A257-08		47030582	108239978	28	11555											
P2RY4	5030	broad.mit.edu	37	chrX	69478626	69478626	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actttatagaccacgttgacAatgttcagtactcggcagtc	11	12	8	10	2	1	2	1	1	0	1	3	2	1	2	1	1	1	4	1	1	4	6			TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chrX:69478626A>C	ENST00000374519.2	-	1	1028	c.849T>G	c.(847-849)atT>atG	p.I283M		NM_002565.3	NP_002556.1	P51582	P2RY4_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 4	283					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						CCACGTTGACAATGTTCAGTA	0.542													3	17					0	0	1	0	0	C	69478626	A	C	69478626	3	2	238	1	0	0	0	0	1	0	0	0	11400	126	5	5	252	5	P2RY4	23	69478626	Missense_Mutation	SNP	A	TCGA-KC-A4BN-01A-61D-A257-08	22448044	69478626	85791934	29	11556											
SMARCA1	6594	broad.mit.edu	37	chrX	128599589	128599589	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcatatacattttctctatCaaagcccattttgtgtaaca	12	17	3	9	0	3	0	2	0	1	0	4	0	3	0	1	0	3	1	1	0	5	9			TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chrX:128599589C>G	ENST00000371122.4	-	23	3067	c.2938G>C	c.(2938-2940)Gat>Cat	p.D980H	SMARCA1_ENST00000371123.1_Missense_Mutation_p.D968H|SMARCA1_ENST00000371121.3_Missense_Mutation_p.D968H	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	980	SANT 2.				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						TTTTCTCTATCAAAGCCCATT	0.363													22	31					0	0	1	0	0	G	128599589	C	G	128599589	3	3	238	1	0	0	0	0	1	0	0	0	14822	826	29	4	234	4	SMARCA1	23	128599589	Missense_Mutation	SNP	C	TCGA-KC-A4BN-01A-61D-A257-08	59120963	128599589	26670971	30	11557											
IGSF1	3547	broad.mit.edu	37	chrX	130416523	130416523	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtatcactgtaggttacatTgttgaggaagaatgatgtgt	12	14	12	3	0	1	3	1	2	0	1	1	4	1	4	0	2	1	4	0	2	5	5	rs6637826	by1000genomes	TCGA-KC-A4BN-01A-61D-A257-08	TCGA-KC-A4BN-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef4b8185-9003-4a49-ab6c-84a5c0037837	85328a4c-38dc-48a7-8eed-1b4b4ad9e060	g.chrX:130416523T>G	ENST00000370904.1	-	13	2024	c.1114A>C	c.(1114-1116)Aat>Cat	p.N372H	IGSF1_ENST00000361420.3_Missense_Mutation_p.N381H|IGSF1_ENST00000370903.3_Missense_Mutation_p.N381H|IGSF1_ENST00000370910.1_Missense_Mutation_p.N372H			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	381	Ig-like C2-type 4.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TAGGTTACATTGTTGAGGAAG	0.448													4	75					0	0	1	0	0	G	130416523	T	G	130416523	3	3	238	1	0	0	0	0	1	0	0	0	7640	1812	63	5	2940	5	IGSF1	23	130416523	Missense_Mutation	SNP	T	TCGA-KC-A4BN-01A-61D-A257-08	1816934	130416523	24854037	31	11558											
EN1	2019	broad.mit.edu	37	chr2	119604526	119604528	+	In_Frame_Del	DEL	TGC	TGC	-																															gcggggggtgtggggggaggTgcgggtggtgggccaggggc																										TCGA-KC-A4BO-01A-61D-A257-08	TCGA-KC-A4BO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488dd6cb-687e-4246-bd35-d45f3c5fadf1	785ea44e-05df-43df-8acc-c0fda6852721	g.chr2:119604526_119604528delTGC	ENST00000295206.6	-	1	726_728	c.216_218delGCA	c.(214-219)ccc>cc	p.PH72del		NM_001426.3	NP_001417.3	Q05925	HME1_HUMAN	engrailed homeobox 1	72					skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						tggggggaggtgcgggtggtggg	0.773													2	4	---	---	---	---						-	119604528	TGC	-	119604526	7	5	239	1	0	1	0	1	0	0	0	0	5137	1696	59	0	968	0	EN1	2	119604526	In_Frame_Del	DEL	TGC	TCGA-KC-A4BO-01A-61D-A257-08		119604526	123594847	1	11559											
OBP2A	29991	broad.mit.edu	37	chr9	138440525	138440525	+	Missense_Mutation	SNP	C	C	G																															ggccgtgccgctgtccccacCttggctcacctggccacctc																								rs2590500	by1000genomes	TCGA-KC-A4BO-01A-61D-A257-08	TCGA-KC-A4BO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488dd6cb-687e-4246-bd35-d45f3c5fadf1	785ea44e-05df-43df-8acc-c0fda6852721	g.chr9:138440525C>G	ENST00000340780.3	+	5	467	c.425C>G	c.(424-426)cCt>cGt	p.P142R	OBP2A_ENST00000342114.4_Silent_p.T97T|OBP2A_ENST00000371776.1_Intron|OBP2A_ENST00000539850.1_Intron			Q9NY56	OBP2A_HUMAN	odorant binding protein 2A	0					response to stimulus|sensory perception of smell	extracellular region	odorant binding|transporter activity			endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		CTGTCCCCACCTTGGCTCACC	0.597													4	38					0	0	1	0	0	G	138440525	C	G	138440525	3	3	239	1	0	0	0	0	1	0	0	0	10858	696	24	4		4	OBP2A	9	138440525	Missense_Mutation	SNP	C	TCGA-KC-A4BO-01A-61D-A257-08		138440525	2772906	2	11560	58	2									
OBP2A	29991	broad.mit.edu	37	chr9	138440527	138440527	+	Missense_Mutation	SNP	T	T	C																															ccgtgccgctgtccccacctTggctcacctggccacctcac																								rs2590501	by1000genomes	TCGA-KC-A4BO-01A-61D-A257-08	TCGA-KC-A4BO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488dd6cb-687e-4246-bd35-d45f3c5fadf1	785ea44e-05df-43df-8acc-c0fda6852721	g.chr9:138440527T>C	ENST00000340780.3	+	5	469	c.427T>C	c.(427-429)Tgg>Cgg	p.W143R	OBP2A_ENST00000342114.4_Missense_Mutation_p.L98S|OBP2A_ENST00000371776.1_Intron|OBP2A_ENST00000539850.1_Intron			Q9NY56	OBP2A_HUMAN	odorant binding protein 2A	0					response to stimulus|sensory perception of smell	extracellular region	odorant binding|transporter activity			endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		GTCCCCACCTTGGCTCACCTG	0.597													4	40					0	0	1	0	0	C	138440527	T	C	138440527	3	2	239	1	0	0	0	0	1	0	0	0	10858	1827	63	3		3	OBP2A	9	138440527	Missense_Mutation	SNP	T	TCGA-KC-A4BO-01A-61D-A257-08	2	138440527	2772904	3	11561	58	2									
CCDC114	93233	broad.mit.edu	37	chr19	48807367	48807367	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttctccgcgcgctcccgCagcaagcccatcttggcctt	4	11	8	18	4	3	0	0	0	3	0	5	0	4	0	4	1	2	3	4	1	1	3	rs28582401	by1000genomes	TCGA-KC-A4BO-01A-61D-A257-08	TCGA-KC-A4BO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488dd6cb-687e-4246-bd35-d45f3c5fadf1	785ea44e-05df-43df-8acc-c0fda6852721	g.chr19:48807367C>A	ENST00000315396.7	-	7	1267	c.585G>T	c.(583-585)ctG>ctT	p.L195L		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	195										cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		CGCGCTCCCGCAGCAAGCCCA	0.682													5	55					5.9392e-07	6.45565e-07	1	1	0	A	48807367	C	A	48807367	2	1	239	1	0	0	0	0	0	0	0	1	2769	697	25	4		4	CCDC114	19	48807367	Silent	SNP	C	TCGA-KC-A4BO-01A-61D-A257-08		48807367	10321616	4	11562											
SBF1	6305	broad.mit.edu	37	chr22	50898528	50898528	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaggctgctcatggtcatgCggtcggagggcttcagggct	5	9	16	11	2	3	0	3	0	0	0	4	1	3	1	1	6	2	4	1	6	0	1			TCGA-KC-A4BO-01A-61D-A257-08	TCGA-KC-A4BO-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	488dd6cb-687e-4246-bd35-d45f3c5fadf1	785ea44e-05df-43df-8acc-c0fda6852721	g.chr22:50898528C>T	ENST00000380817.2	-	26	3527	c.3344G>A	c.(3343-3345)cGc>cAc	p.R1115H	SBF1_ENST00000390679.3_Missense_Mutation_p.R1115H|SBF1_ENST00000348911.6_Missense_Mutation_p.R1116H	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	1115					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CATGGTCATGCGGTCGGAGGG	0.677													4	43					0	0	1	0	0	T	50898528	C	T	50898528	3	4	239	1	0	0	0	0	1	0	0	0	13911	768	27	1	2401	1	SBF1	22	50898528	Missense_Mutation	SNP	C	TCGA-KC-A4BO-01A-61D-A257-08		50898528	406038	5	11563											
SPATA21	374955	broad.mit.edu	37	chr1	16727315	16727315	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttgtagggaagcttctgcaaCcgcagccggcctacggccgc	7	7	13	14	4	1	0	0	0	1	0	1	1	1	1	4	3	5	4	4	3	4	4			TCGA-KC-A4BR-01A-32D-A257-08	TCGA-KC-A4BR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9ec16d-4591-4e56-8326-9e7883d88483	fee0aa5b-cffd-48d4-bf3c-118855f4ecda	g.chr1:16727315C>A	ENST00000335496.1	-	11	1556	c.1074G>T	c.(1072-1074)cgG>cgT	p.R358R	SPATA21_ENST00000466212.1_5'UTR|SPATA21_ENST00000540400.1_Silent_p.R335R	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	358							calcium ion binding			breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		GCTTCTGCAACCGCAGCCGGC	0.577													8	180					5.18039e-06	6.04379e-06	1	1	0	A	16727315	C	A	16727315	2	1	240	1	0	0	0	0	0	0	0	1	15063	494	18	4		4	SPATA21	1	16727315	Silent	SNP	C	TCGA-KC-A4BR-01A-32D-A257-08		16727315	232523306	1	11564											
TAS1R2	80834	broad.mit.edu	37	chr1	19166742	19166742	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggtggagaccttgggcGgccccacgtacaccgggacc	7	4	16	14	3	0	1	0	0	0	1	0	3	0	2	5	6	1	2	5	6	1	2			TCGA-KC-A4BR-01A-32D-A257-08	TCGA-KC-A4BR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9ec16d-4591-4e56-8326-9e7883d88483	fee0aa5b-cffd-48d4-bf3c-118855f4ecda	g.chr1:19166742G>A	ENST00000375371.3	-	6	1892	c.1871C>T	c.(1870-1872)cCg>cTg	p.P624L		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	624					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	GACCTTGGGCGGCCCCACGTA	0.612													7	77					0	0	1	0	0	A	19166742	G	A	19166742	3	1	240	1	0	0	0	0	1	0	0	0	15620	1116	39	1	652	1	TAS1R2	1	19166742	Missense_Mutation	SNP	G	TCGA-KC-A4BR-01A-32D-A257-08	2439427	19166742	230083879	2	11565											
LRP1B	53353	broad.mit.edu	37	chr2	141092024	141092024	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgtcagaaatcatacctGtgggtctctgtaagttcttt	8	16	10	7	0	4	1	2	0	2	1	5	1	4	1	1	1	1	2	1	1	3	4			TCGA-KC-A4BR-01A-32D-A257-08	TCGA-KC-A4BR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9ec16d-4591-4e56-8326-9e7883d88483	fee0aa5b-cffd-48d4-bf3c-118855f4ecda	g.chr2:141092024G>T	ENST00000389484.3	-	79	13192	c.12221C>A	c.(12220-12222)aCa>aAa	p.T4074K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4074					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AATCATACCTGTGGGTCTCTG	0.363										TSP Lung(27;0.18)			4	50					0.150653	0.150653	1	1	0	T	141092024	G	T	141092024	3	4	240	1	0	0	0	0	1	0	0	0	9000	1377	48	4	1630	4	LRP1B	2	141092024	Missense_Mutation	SNP	G	TCGA-KC-A4BR-01A-32D-A257-08		141092024	102107349	3	11566											
HIST1H2BG	8339	broad.mit.edu	37	chr6	26216864	26216864	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggagctgacttagctggtTcaggcatgctgtcagaaaac	11	9	12	9	0	2	2	2	1	0	1	2	3	2	3	0	3	4	5	0	3	3	2			TCGA-KC-A4BR-01A-32D-A257-08	TCGA-KC-A4BR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9ec16d-4591-4e56-8326-9e7883d88483	fee0aa5b-cffd-48d4-bf3c-118855f4ecda	g.chr6:26216864T>A	ENST00000244601.3	-	1	8	c.8A>T	c.(7-9)gAa>gTa	p.E3V		NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bg	3					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				CTTAGCTGGTTCAGGCATGCT	0.478													7	75					0	0	1	0	0	A	26216864	T	A	26216864	3	1	240	1	0	0	0	0	1	0	0	0	7187	1783	62	5	376	5	HIST1H2BG	6	26216864	Missense_Mutation	SNP	T	TCGA-KC-A4BR-01A-32D-A257-08		26216864	144898203	4	11567											
FIGNL1	63979	broad.mit.edu	37	chr7	50514797	50514797	+	Frame_Shift_Del	DEL	T	T	-																															ataattgcagaatatttctcTgcatattttttgaacagttt																										TCGA-KC-A4BR-01A-32D-A257-08	TCGA-KC-A4BR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9ec16d-4591-4e56-8326-9e7883d88483	fee0aa5b-cffd-48d4-bf3c-118855f4ecda	g.chr7:50514797delT	ENST00000419119.1	-	2	1742	c.189delA	c.(187-189)gcfs	p.A63fs	FIGNL1_ENST00000435566.1_Intron|FIGNL1_ENST00000433017.1_Frame_Shift_Del_p.A63fs|FIGNL1_ENST00000395556.2_Frame_Shift_Del_p.A63fs|FIGNL1_ENST00000356889.4_Frame_Shift_Del_p.A63fs			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	63					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				AATATTTCTCTGCATATTTTT	0.373													7	62	---	---	---	---						-	50514797	T	-	50514797	7	5	240	1	0	1	0	1	0	0	0	0	5925	1567	55	0	1839	0	FIGNL1	7	50514797	Frame_Shift_Del	DEL	T	TCGA-KC-A4BR-01A-32D-A257-08		50514797	108623866	5	11568											
PGR	5241	broad.mit.edu	37	chr11	100933406	100933406	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcttggctttcatttggaaCgcccactggctgtgggagag	6	11	15	9	1	1	1	1	0	0	1	1	3	1	2	1	5	1	3	1	5	1	3	rs150584881		TCGA-KC-A4BR-01A-32D-A257-08	TCGA-KC-A4BR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9ec16d-4591-4e56-8326-9e7883d88483	fee0aa5b-cffd-48d4-bf3c-118855f4ecda	g.chr11:100933406C>T	ENST00000325455.5	-	4	3437	c.1984G>A	c.(1984-1986)Gtt>Att	p.V662I	PGR_ENST00000263463.5_Intron|PGR_ENST00000534013.1_Missense_Mutation_p.V68I	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN	progesterone receptor	662					cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	p.V662I(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	TCATTTGGAACGCCCACTGGC	0.418													7	98					0	0	1	0	0	T	100933406	C	T	100933406	3	4	240	1	0	0	0	0	1	0	0	0	11853	536	19	1	837	1	PGR	11	100933406	Missense_Mutation	SNP	C	TCGA-KC-A4BR-01A-32D-A257-08		100933406	34073110	6	11569											
OR10G4	390264	broad.mit.edu	37	chr11	123886818	123886818	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccagcactacttctgtgaCgcaccgcccatcctgaaact	10	9	6	16	2	1	2	0	2	1	0	3	2	3	2	4	0	3	2	4	0	2	2	rs140418650		TCGA-KC-A4BR-01A-32D-A257-08	TCGA-KC-A4BR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9ec16d-4591-4e56-8326-9e7883d88483	fee0aa5b-cffd-48d4-bf3c-118855f4ecda	g.chr11:123886818C>T	ENST00000320891.4	+	1	537	c.537C>T	c.(535-537)gaC>gaT	p.D179D		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		ACTTCTGTGACGCACCGCCCA	0.542													9	144					0	0	1	0	0	T	123886818	C	T	123886818	2	4	240	1	0	0	0	0	0	0	0	1	10949	535	19	1		1	OR10G4	11	123886818	Silent	SNP	C	TCGA-KC-A4BR-01A-32D-A257-08	22953412	123886818	11119698	7	11570											
FBXL14	144699	broad.mit.edu	37	chr12	1703090	1703090	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtgcagcttggcctccAccccccgccacaccgacttg	6	6	10	19	2	0	0	0	0	0	0	1	1	1	0	7	2	2	3	7	2	0	2			TCGA-KC-A4BR-01A-32D-A257-08	TCGA-KC-A4BR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9ec16d-4591-4e56-8326-9e7883d88483	fee0aa5b-cffd-48d4-bf3c-118855f4ecda	g.chr12:1703090A>C	ENST00000339235.3	-	1	241	c.143T>G	c.(142-144)gTg>gGg	p.V48G	WNT5B_ENST00000537031.1_Intron	NM_152441.2	NP_689654.1	Q8N1E6	FXL14_HUMAN	F-box and leucine-rich repeat protein 14	48	F-box.|Required for down-regulation of SNAI1.					cytoplasm				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	8	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00115)			CTTGGCCTCCACCCCCCGCCA	0.731													6	7					0	0	1	0	0	C	1703090	A	C	1703090	3	2	240	1	0	0	0	0	1	0	0	0	5743	159	6	5	1121	5	FBXL14	12	1703090	Missense_Mutation	SNP	A	TCGA-KC-A4BR-01A-32D-A257-08		1703090	132148805	8	11571											
NCOR2	9612	broad.mit.edu	37	chr12	124862887	124862887	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcctcctcgctggccgccGccggcgctttcttcttcttc	1	12	9	19	5	3	0	0	0	3	0	6	0	4	0	5	2	1	2	5	2	0	4			TCGA-KC-A4BR-01A-32D-A257-08	TCGA-KC-A4BR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9ec16d-4591-4e56-8326-9e7883d88483	fee0aa5b-cffd-48d4-bf3c-118855f4ecda	g.chr12:124862887G>A	ENST00000356219.3	-	19	2218	c.2063C>T	c.(2062-2064)gCg>gTg	p.A688V	NCOR2_ENST00000404621.1_Missense_Mutation_p.A687V|NCOR2_ENST00000404121.2_Missense_Mutation_p.A258V|NCOR2_ENST00000405201.1_Missense_Mutation_p.A688V|NCOR2_ENST00000429285.2_Missense_Mutation_p.A687V|NCOR2_ENST00000397355.1_Missense_Mutation_p.A688V	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	688					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GCTGGCCGCCGCCGGCGCTTT	0.662													3	30					0	0	1	0	0	A	124862887	G	A	124862887	3	1	240	1	0	0	0	0	1	0	0	0	10283	1087	38	1	5625	1	NCOR2	12	124862887	Missense_Mutation	SNP	G	TCGA-KC-A4BR-01A-32D-A257-08	123159797	124862887	8989008	9	11572											
ITGA2B	3674	broad.mit.edu	37	chr17	42461065	42461065	+	Frame_Shift_Del	DEL	C	C	-																															tggagcgcccaccagcagatCatgcctcctgtgggccagat																										TCGA-KC-A4BR-01A-32D-A257-08	TCGA-KC-A4BR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9ec16d-4591-4e56-8326-9e7883d88483	fee0aa5b-cffd-48d4-bf3c-118855f4ecda	g.chr17:42461065delC	ENST00000262407.5	-	12	1037	c.1006delG	c.(1006-1008)atfs	p.D336fs	ITGA2B_ENST00000353281.4_Frame_Shift_Del_p.D336fs|ITGA2B_ENST00000377068.3_Frame_Shift_Del_p.D21fs	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	336					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	ACCAGCAGATCATGCCTCCTG	0.597													2	4	---	---	---	---						-	42461065	C	-	42461065	7	5	240	1	0	1	0	1	0	0	0	0	7920	826	29	0	2189	0	ITGA2B	17	42461065	Frame_Shift_Del	DEL	C	TCGA-KC-A4BR-01A-32D-A257-08		42461065	38734145	10	11573											
SERPINB3	6317	broad.mit.edu	37	chr18	61328408	61328408	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttctgaactgttggaacaGgtcgaacatgaacttggtgt	10	14	11	6	1	1	2	0	2	1	0	2	4	1	3	0	3	4	1	0	3	4	4			TCGA-KC-A4BR-01A-32D-A257-08	TCGA-KC-A4BR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9ec16d-4591-4e56-8326-9e7883d88483	fee0aa5b-cffd-48d4-bf3c-118855f4ecda	g.chr18:61328408G>T	ENST00000283752.5	-	2	186	c.43C>A	c.(43-45)Ctg>Atg	p.L15M	SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Missense_Mutation_p.L15M	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	15					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TGTTGGAACAGGTCGAACATG	0.433													8	153					3.09899e-07	3.82816e-07	1	1	0	T	61328408	G	T	61328408	3	4	240	1	0	0	0	0	1	0	0	0	14156	991	35	4	1157	4	SERPINB3	18	61328408	Missense_Mutation	SNP	G	TCGA-KC-A4BR-01A-32D-A257-08		61328408	16748840	11	11574											
TPRX1	284355	broad.mit.edu	37	chr19	48305603	48305603	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgggattgggcctgggatcGggcctgggtttgggcctgag	3	10	20	8	1	0	1	0	1	0	0	1	3	0	3	3	6	0	1	3	6	0	2			TCGA-KC-A4BR-01A-32D-A257-08	TCGA-KC-A4BR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9ec16d-4591-4e56-8326-9e7883d88483	fee0aa5b-cffd-48d4-bf3c-118855f4ecda	g.chr19:48305603G>A	ENST00000535759.1	-	4	955	c.956C>T	c.(955-957)cCg>cTg	p.P319L	TPRX1_ENST00000543508.1_Missense_Mutation_p.P212L|TPRX1_ENST00000322175.3_Missense_Mutation_p.P222L			Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	222	Gly-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P222L(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		gcctgggatcgggcctgggtt	0.667													2	1					0	0	1	0	0	A	48305603	G	A	48305603	3	1	240	1	0	0	0	0	1	0	0	0	16483	1116	39	1	574	1	TPRX1	19	48305603	Missense_Mutation	SNP	G	TCGA-KC-A4BR-01A-32D-A257-08		48305603	10823380	12	11575											
C1orf87	127795	broad.mit.edu	37	chr1	60456420	60456420	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cggaatctgcgcaaggcctgGtcgattttctgagggctcag	7	10	14	10	3	3	1	1	1	2	0	4	3	3	2	1	4	1	2	1	4	2	2			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr1:60456420G>C	ENST00000371201.3	-	12	1673	c.1566C>G	c.(1564-1566)gaC>gaG	p.D522E	C1orf87_ENST00000486478.1_5'UTR|C1orf87_ENST00000450089.2_Missense_Mutation_p.D293E|C1orf87_ENST00000395552.1_Missense_Mutation_p.D156E	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	522							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GCAAGGCCTGGTCGATTTTCT	0.488													50	158					0	0	1	0	0	C	60456420	G	C	60456420	3	2	241	1	0	0	0	0	1	0	0	0	2078	1252	44	4	78	4	C1orf87	1	60456420	Missense_Mutation	SNP	G	TCGA-KC-A4BV-01A-31D-A26M-08		60456420	188794201	1	11576											
FNBP1L	54874	broad.mit.edu	37	chr1	94000419	94000419	+	Frame_Shift_Del	DEL	T	T	-																															gatggatgccaaaaccacagTaggaaaggccaagggcaaat																										TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr1:94000419delT	ENST00000260506.8	+	9	1095	c.944delT	c.(943-945)gafs	p.V315fs	FNBP1L_ENST00000271234.7_Frame_Shift_Del_p.V315fs|FNBP1L_ENST00000604705.1_Frame_Shift_Del_p.V315fs|FNBP1L_ENST00000370256.4_Frame_Shift_Del_p.V315fs|FNBP1L_ENST00000370253.2_Frame_Shift_Del_p.V315fs	NM_001024948.2|NM_017737.4	NP_001020119.1|NP_060207.2	Q5T0N5	FBP1L_HUMAN	formin binding protein 1-like	315	Induction of membrane tubulation (By similarity).|Interaction with CDC42.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	lipid binding			breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1)	11		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)		AAAACCACAGTAGGAAAGGCC	0.388													2	4	---	---	---	---						-	94000419	T	-	94000419	7	5	241	1	0	1	0	1	0	0	0	0	5999	1638	57	0	978	0	FNBP1L	1	94000419	Frame_Shift_Del	DEL	T	TCGA-KC-A4BV-01A-31D-A26M-08	33543999	94000419	155250202	2	11577											
AKNAD1	254268	broad.mit.edu	37	chr1	109377557	109377557	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggctaggactcacgtctgcGgggccagctcacagagctcc	7	6	14	14	2	3	1	2	0	1	1	4	2	4	2	2	4	3	3	2	4	1	1			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr1:109377557G>A	ENST00000370001.3	-	8	1926	c.1658C>T	c.(1657-1659)cCg>cTg	p.P553L	AKNAD1_ENST00000357393.4_Missense_Mutation_p.P260L|AKNAD1_ENST00000369994.1_Missense_Mutation_p.P523L|AKNAD1_ENST00000369995.3_Missense_Mutation_p.P553L	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	553								p.P553L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TCACGTCTGCGGGGCCAGCTC	0.657													8	31					0	0	1	0	0	A	109377557	G	A	109377557	3	1	241	1	0	0	0	0	1	0	0	0	461	1116	39	1	888	1	AKNAD1	1	109377557	Missense_Mutation	SNP	G	TCGA-KC-A4BV-01A-31D-A26M-08	15377138	109377557	139873064	3	11578											
UBQLN4	56893	broad.mit.edu	37	chr1	156011291	156011292	+	Frame_Shift_Ins	INS	-	-	A																															gtacctgtgagtttccacttINSccagccaaaagctggatcat																										TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr1:156011291_156011292insA	ENST00000368309.3	-	10	1729_1730	c.1637_1638insT	c.(1636-1638)gagfs	p.E546fs	UBQLN4_ENST00000368307.1_Frame_Shift_Ins_p.*V198fs	NM_020131.3	NP_064516.2	Q9NRR5	UBQL4_HUMAN	ubiquilin 4	546						cytosol|endoplasmic reticulum membrane|nucleus	identical protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16	Hepatocellular(266;0.133)|all_neural(408;0.195)					AGTTTCCACTTCCAGCCAAAAG	0.569													12	29	---	---	---	---						A	156011292	-	A	156011291	7	5	241	1	0	1	1	0	0	0	0	0	16960	1770	62	0	175	0	UBQLN4	1	156011291	Frame_Shift_Ins	INS	-	TCGA-KC-A4BV-01A-31D-A26M-08	46633734	156011291	93239330	4	11579											
KIAA1614	57710	broad.mit.edu	37	chr1	180885841	180885841	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgaccatgacagaggtcCgctgctggggcccagctctt	6	9	12	14	1	1	3	0	2	1	1	3	3	3	3	4	3	2	3	4	3	0	1			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr1:180885841C>T	ENST00000367588.4	+	2	657	c.602C>T	c.(601-603)cCg>cTg	p.P201L		NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	201										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GACAGAGGTCCGCTGCTGGGG	0.612													6	105					0	0	1	0	0	T	180885841	C	T	180885841	3	4	241	1	0	0	0	0	1	0	0	0	8290	652	23	1	608	1	KIAA1614	1	180885841	Missense_Mutation	SNP	C	TCGA-KC-A4BV-01A-31D-A26M-08	24874550	180885841	68364780	5	11580											
TATDN3	128387	broad.mit.edu	37	chr1	212985626	212985626	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacaattgcctttaacttctAtatgcttagaaacagattca	15	14	4	8	0	2	2	1	0	1	2	2	2	2	2	1	0	5	1	1	0	7	8			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr1:212985626A>G	ENST00000366974.4	+	9	731	c.637A>G	c.(637-639)Ata>Gta	p.I213V	TATDN3_ENST00000525569.1_3'UTR|TATDN3_ENST00000526997.1_Missense_Mutation_p.Y174C|TATDN3_ENST00000526641.1_Missense_Mutation_p.I192V|TATDN3_ENST00000366973.4_Missense_Mutation_p.I212V|TATDN3_ENST00000531963.1_Missense_Mutation_p.I220V|TATDN3_ENST00000532324.1_Missense_Mutation_p.I220V	NM_001042552.2|NM_001042553.2|NM_001146169.1|NM_001146171.1	NP_001036017.1|NP_001036018.1|NP_001139641.1|NP_001139643.1	Q17R31	TATD3_HUMAN	TatD DNase domain containing 3	213						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			endometrium(1)|large_intestine(2)|lung(6)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00699)|all cancers(67;0.0118)|GBM - Glioblastoma multiforme(131;0.0801)|Epithelial(68;0.104)		TTTAACTTCTATATGCTTAGA	0.294													11	21					0	0	1	0	0	G	212985626	A	G	212985626	3	3	241	1	0	0	0	0	1	0	0	0	15650	449	16	3	692	3	TATDN3	1	212985626	Missense_Mutation	SNP	A	TCGA-KC-A4BV-01A-31D-A26M-08	32099785	212985626	36264995	6	11581											
ETAA1	54465	broad.mit.edu	37	chr2	67632038	67632038	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgactatgtattctaagAtctcaaactgtcagataaat	15	15	5	6	0	3	3	2	1	2	2	4	3	3	3	0	0	1	1	0	0	6	6			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr2:67632038A>C	ENST00000272342.5	+	5	2354	c.2224A>C	c.(2224-2226)Atc>Ctc	p.I742L	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	742						cytoplasm|nucleus				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						GTATTCTAAGATCTCAAACTG	0.348													4	32					0	0	1	0	0	C	67632038	A	C	67632038	3	2	241	1	0	0	0	0	1	0	0	0	5295	333	12	5	2242	5	ETAA1	2	67632038	Missense_Mutation	SNP	A	TCGA-KC-A4BV-01A-31D-A26M-08		67632038	175567335	7	11582											
SLC4A3	6508	broad.mit.edu	37	chr2	220498620	220498621	+	Frame_Shift_Del	DEL	GG	GG	-																															agaagcccctccacatgcctGggggagatggtcaccggggg																										TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr2:220498620_220498621delGG	ENST00000358055.3	+	11	1992_1993	c.1480_1481delGG	c.(1480-1482)gfs	p.G495fs	SLC4A3_ENST00000273063.6_Frame_Shift_Del_p.G522fs|SLC4A3_ENST00000373760.2_Frame_Shift_Del_p.G495fs|SLC4A3_ENST00000373762.3_Frame_Shift_Del_p.G522fs|SLC4A3_ENST00000317151.3_Frame_Shift_Del_p.G495fs			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	495					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCACATGCCTGGGGGAGATGGT	0.668													2	4	---	---	---	---						-	220498621	GG	-	220498620	7	5	241	1	0	1	0	1	0	0	0	0	14710	1348	47	0	1599	0	SLC4A3	2	220498620	Frame_Shift_Del	DEL	GG	TCGA-KC-A4BV-01A-31D-A26M-08	152866582	220498620	22700753	8	11583											
SCN5A	6331	broad.mit.edu	37	chr3	38647629	38647629	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcatgtagatcttccctgcgGacctgagggtctgggggagc	6	10	15	10	1	3	2	1	1	2	1	4	4	4	4	2	4	2	1	2	4	1	2			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr3:38647629G>T	ENST00000413689.1	-	10	1344	c.1151C>A	c.(1150-1152)tCc>tAc	p.S384Y	SCN5A_ENST00000425664.1_Missense_Mutation_p.S384Y|SCN5A_ENST00000423572.2_Missense_Mutation_p.S384Y|SCN5A_ENST00000414099.2_Missense_Mutation_p.S384Y|SCN5A_ENST00000333535.4_Missense_Mutation_p.S384Y|SCN5A_ENST00000455624.2_Missense_Mutation_p.S384Y|SCN5A_ENST00000451551.2_Missense_Mutation_p.S384Y|SCN5A_ENST00000450102.2_Missense_Mutation_p.S384Y|SCN5A_ENST00000449557.2_Missense_Mutation_p.S384Y|SCN5A_ENST00000443581.1_Missense_Mutation_p.S384Y	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	384					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CTTCCCTGCGGACCTGAGGGT	0.572													7	33					1.12685e-05	1.19878e-05	1	1	0	T	38647629	G	T	38647629	3	4	241	1	0	0	0	0	1	0	0	0	13976	1174	41	4	4975	4	SCN5A	3	38647629	Missense_Mutation	SNP	G	TCGA-KC-A4BV-01A-31D-A26M-08		38647629	159374801	9	11584											
STAG1	10274	broad.mit.edu	37	chr3	136221497	136221497	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtttctgaagtagtaactcCaacctttcattggctctctt	8	16	6	11	1	3	1	1	1	2	0	5	1	4	1	2	1	2	4	2	1	4	6			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr3:136221497C>G	ENST00000383202.2	-	8	1057	c.801G>C	c.(799-801)ttG>ttC	p.L267F	STAG1_ENST00000434713.2_Missense_Mutation_p.L41F|STAG1_ENST00000236698.5_Missense_Mutation_p.L267F	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	267					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						GTAGTAACTCCAACCTTTCAT	0.348													9	49					0	0	1	0	0	G	136221497	C	G	136221497	3	3	241	1	0	0	0	0	1	0	0	0	15298	593	21	4	3083	4	STAG1	3	136221497	Missense_Mutation	SNP	C	TCGA-KC-A4BV-01A-31D-A26M-08	97573868	136221497	61800933	10	11585											
GPR98	84059	broad.mit.edu	37	chr5	90052835	90052835	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcctatgaggtgcctccaCccttgaacgttcttcaagtt	7	13	8	13	1	2	2	1	2	1	0	3	2	3	2	4	1	3	2	4	1	3	5			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr5:90052835C>T	ENST00000405460.2	+	57	11893	c.11797C>T	c.(11797-11799)Ccc>Tcc	p.P3933S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3933					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GGTGCCTCCACCCTTGAACGT	0.443													6	35					0	0	1	0	0	T	90052835	C	T	90052835	3	4	241	1	0	0	0	0	1	0	0	0	6762	507	18	2	12023	2	GPR98	5	90052835	Missense_Mutation	SNP	C	TCGA-KC-A4BV-01A-31D-A26M-08		90052835	90862425	11	11586											
PCDHB1	0	broad.mit.edu	37	chr5	140432441	140432441	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctatatcttgactgttcgAgaaaacaacagtcctgcggt	11	12	8	10	2	1	2	0	1	1	1	4	3	3	2	2	1	3	1	2	1	5	4			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr5:140432441A>C	ENST00000306549.3	+	1	1463	c.1386A>C	c.(1384-1386)cgA>cgC	p.R462R		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		462	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGACTGTTCGAGAAAACAACA	0.418													17	31					0	0	1	0	0	C	140432441	A	C	140432441	2	2	241	1	0	0	0	0	0	0	0	1	11581	291	11	5		5	PCDHB1	5	140432441	Silent	SNP	A	TCGA-KC-A4BV-01A-31D-A26M-08	50379606	140432441	40482819	12	11587											
PHIP	55023	broad.mit.edu	37	chr6	79713461	79713461	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctctaccttgtcatatttgcTactggacccaaagccaaaaa	13	11	5	12	0	2	0	1	0	1	0	2	1	2	1	3	1	4	1	3	1	6	5			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr6:79713461T>C	ENST00000275034.4	-	16	1806	c.1639A>G	c.(1639-1641)Agc>Ggc	p.S547G		NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	547					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TCATATTTGCTACTGGACCCA	0.383													6	14					0	0	1	0	0	C	79713461	T	C	79713461	3	2	241	1	0	0	0	0	1	0	0	0	11890	1522	53	3	3926	3	PHIP	6	79713461	Missense_Mutation	SNP	T	TCGA-KC-A4BV-01A-31D-A26M-08		79713461	91401606	13	11588											
SEMA3E	9723	broad.mit.edu	37	chr7	83016314	83016314	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attaccaacaaactgttgtcCaaagcactgctgagctgcat	13	10	7	11	0	0	1	0	1	0	0	1	1	1	1	2	0	7	5	2	0	4	2			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr7:83016314C>G	ENST00000307792.3	-	15	2187	c.1720G>C	c.(1720-1722)Gga>Cga	p.G574R	SEMA3E_ENST00000427262.1_Missense_Mutation_p.G514R	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	574					axon guidance	extracellular space|membrane	receptor activity	p.G574R(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				AACTGTTGTCCAAAGCACTGC	0.358													7	9					0	0	1	0	0	G	83016314	C	G	83016314	3	3	241	1	0	0	0	0	1	0	0	0	14082	603	21	4	619	4	SEMA3E	7	83016314	Missense_Mutation	SNP	C	TCGA-KC-A4BV-01A-31D-A26M-08		83016314	76122349	14	11589											
SPAM1	0	broad.mit.edu	37	chr7	123594258	123594258	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aattgggaaaattacttcggCcaaatcacttgtggggttat	12	13	10	6	1	1	0	1	0	0	0	2	1	1	1	1	4	1	1	1	4	6	5			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr7:123594258C>A	ENST00000340011.5	+	3	991	c.634C>A	c.(634-636)Cca>Aca	p.P212T	SPAM1_ENST00000402183.2_Missense_Mutation_p.P212T|SPAM1_ENST00000223028.7_Missense_Mutation_p.P212T|SPAM1_ENST00000439500.1_Missense_Mutation_p.P212T|SPAM1_ENST00000460182.1_Missense_Mutation_p.P212T	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	212					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	ATTACTTCGGCCAAATCACTT	0.378													4	26					0.150653	0.156931	1	1	0	A	123594258	C	A	123594258	3	1	241	1	0	0	0	0	1	0	0	0	15042	739	26	4	636	4	SPAM1	7	123594258	Missense_Mutation	SNP	C	TCGA-KC-A4BV-01A-31D-A26M-08	40577944	123594258	35544405	15	11590											
RP1	6101	broad.mit.edu	37	chr8	55542611	55542611	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atacacaagacctcagcggtCagacaaatgaaatctttaaa	18	8	6	9	1	3	3	2	1	1	2	3	3	3	3	1	1	2	0	1	1	6	3			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr8:55542611C>G	ENST00000220676.1	+	4	6317	c.6169C>G	c.(6169-6171)Cag>Gag	p.Q2057E		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	2057					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CCTCAGCGGTCAGACAAATGA	0.348													10	34					0	0	1	0	0	G	55542611	C	G	55542611	3	3	241	1	0	0	0	0	1	0	0	0	13584	827	29	4	6179	4	RP1	8	55542611	Missense_Mutation	SNP	C	TCGA-KC-A4BV-01A-31D-A26M-08		55542611	90821411	16	11591											
LRRC24	441381	broad.mit.edu	37	chr8	145747927	145747927	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccgccccctgttccgggcCgcagtcagcgggcgcctccg	2	5	13	21	6	1	0	1	0	0	0	3	0	3	0	8	2	1	2	8	2	0	1			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr8:145747927C>A	ENST00000529415.2	-	5	1591	c.1474G>T	c.(1474-1476)Ggc>Tgc	p.G492C	LRRC24_ENST00000533758.1_Missense_Mutation_p.G489C|LRRC14_ENST00000292524.1_3'UTR			Q50LG9	LRC24_HUMAN	leucine rich repeat containing 24	492						integral to membrane				breast(2)|endometrium(1)|kidney(1)|lung(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TGTTCCGGGCCGCAGTCAGCG	0.751													2	2					1	1	1	1	0	A	145747927	C	A	145747927	3	1	241	1	0	0	0	0	1	0	0	0	9024	652	23	4	71	4	LRRC24	8	145747927	Missense_Mutation	SNP	C	TCGA-KC-A4BV-01A-31D-A26M-08	90205316	145747927	616095	17	11592											
ZWINT	0	broad.mit.edu	37	chr10	58118485	58118485	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agctggaggaaggtctgataCctacaaagaggaggtaagtg	14	7	15	5	0	1	2	0	1	1	1	1	5	1	5	1	5	3	2	1	5	5	3			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr10:58118485C>A	ENST00000373944.3	-	7	662	c.623_splice	c.e7-1	p.R208_splice	ZWINT_ENST00000318387.2_Splice_Site_p.R88_splice|ZWINT_ENST00000395405.1_Splice_Site_p.R208_splice|ZWINT_ENST00000460654.1_Intron|ZWINT_ENST00000361148.6_Intron			O95229	ZWINT_HUMAN	ZW10 interacting kinetochore protein	208					cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytosol|nucleus	protein N-terminus binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						AGGTCTGATACCTACAAAGAG	0.517													15	25					2.61681e-11	2.84436e-11	1	1	0	A	58118485	C	A	58118485	5	1	241	1	0	0	0	0	0	0	1	0	18289	521	18	4	217	4	ZWINT	10	58118485	Splice_Site	SNP	C	TCGA-KC-A4BV-01A-31D-A26M-08		58118485	77416262	18	11593											
PTEN	5728	broad.mit.edu	37	chr10	89711886	89711887	+	Frame_Shift_Ins	INS	-	-	C																															tccaccagggagtaactattINScccagtcagaggcgctatgt																										TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr10:89711886_89711887insC	ENST00000371953.3	+	6	1861_1862	c.504_505insC	c.(502-507)atccagfs	p.Q169fs		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	169	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.Y27fs*1(2)|p.V166fs*10(1)|p.G165_*404del(1)|p.I168fs*15(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GAGTAACTATTCCCAGTCAGAG	0.361		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			13	20	---	---	---	---						C	89711887	-	C	89711886	7	5	241	1	0	1	1	0	0	0	0	0	12787	1771	62	0	526	0	PTEN	10	89711886	Frame_Shift_Ins	INS	-	TCGA-KC-A4BV-01A-31D-A26M-08	31593401	89711886	45822861	19	11594											
IFIT2	3433	broad.mit.edu	37	chr10	91066539	91066539	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcttaaaaaggctttagaaTacataccaaacaatgcctac	17	10	5	9	0	0	1	0	0	0	1	0	1	0	1	2	1	6	2	2	1	10	6			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr10:91066539T>A	ENST00000371826.3	+	2	995	c.826T>A	c.(826-828)Tac>Aac	p.Y276N	LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_Intron	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN	interferon-induced protein with tetratricopeptide repeats 2	276					negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				GGCTTTAGAATACATACCAAA	0.418													12	45					0	0	1	0	0	A	91066539	T	A	91066539	3	1	241	1	0	0	0	0	1	0	0	0	7567	1406	49	5	832	5	IFIT2	10	91066539	Missense_Mutation	SNP	T	TCGA-KC-A4BV-01A-31D-A26M-08	1354653	91066539	44468208	20	11595											
C10orf118	55088	broad.mit.edu	37	chr10	115917401	115917401	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctttttctgaacaaatgtctAcgaagagctcctgatgcttc	10	14	7	10	1	2	3	0	2	2	1	4	4	3	3	1	0	4	2	1	0	4	4			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr10:115917401A>G	ENST00000369287.3	-	3	937	c.671T>C	c.(670-672)gTa>gCa	p.V224A		NM_018017.2	NP_060487.2	Q7Z3E2	CJ118_HUMAN	chromosome 10 open reading frame 118	224										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		ACAAATGTCTACGAAGAGCTC	0.284													7	10					0	0	1	0	0	G	115917401	A	G	115917401	3	3	241	1	0	0	0	0	1	0	0	0	1591	391	14	3	2081	3	C10orf118	10	115917401	Missense_Mutation	SNP	A	TCGA-KC-A4BV-01A-31D-A26M-08	24850862	115917401	19617346	21	11596											
C11orf57	55216	broad.mit.edu	37	chr11	111948994	111948994	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggaaaaacagatggaagAtgcttaccgggggaccaaaa	17	5	12	7	1	0	2	0	0	0	2	0	5	0	5	2	4	3	1	2	4	6	1			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr11:111948994A>G	ENST00000532163.1	+	3	804	c.38A>G	c.(37-39)gAt>gGt	p.D13G	C11orf57_ENST00000280352.9_Missense_Mutation_p.D42G|C11orf57_ENST00000393047.3_Missense_Mutation_p.D42G|C11orf57_ENST00000420986.2_Missense_Mutation_p.D42G|C11orf57_ENST00000530104.1_Missense_Mutation_p.D42G			Q6ZUT1	CK057_HUMAN	chromosome 11 open reading frame 57	42										autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12		all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521)		CAGATGGAAGATGCTTACCGG	0.338													6	16					0	0	1	0	0	G	111948994	A	G	111948994	3	3	241	1	0	0	0	0	1	0	0	0	1655	333	12	3	131	3	C11orf57	11	111948994	Missense_Mutation	SNP	A	TCGA-KC-A4BV-01A-31D-A26M-08		111948994	23057522	22	11597											
OASL	8638	broad.mit.edu	37	chr12	121476763	121476764	+	Frame_Shift_Ins	INS	-	-	A																															gtgtgctatacagttcctgcINSatcagtgccatctctgtccc																										TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr12:121476763_121476764insA	ENST00000257570.5	-	1	281_282	c.11_12insT	c.(10-12)acafs	p.T4fs	OASL_ENST00000339275.5_Frame_Shift_Ins_p.T4fs	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	4					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ACAGTTCCTGCATCAGTGCCAT	0.589													11	28	---	---	---	---						A	121476764	-	A	121476763	7	5	241	1	0	1	1	0	0	0	0	0	10850	710	25	0	1556	0	OASL	12	121476763	Frame_Shift_Ins	INS	-	TCGA-KC-A4BV-01A-31D-A26M-08		121476763	12375132	23	11598											
PSMC6	5706	broad.mit.edu	37	chr14	53173992	53173992	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accgcaagaagttgcttgaaCacaaggagatcgacggccgt	13	6	12	10	4	0	3	0	1	0	2	1	5	0	3	2	2	2	3	2	2	4	2			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr14:53173992C>T	ENST00000445930.2	+	1	103	c.97C>T	c.(97-99)Cac>Tac	p.H33Y	PSMC6_ENST00000606149.1_Missense_Mutation_p.H19Y			P62333	PRS10_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 6	19					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding, bridging			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19	Breast(41;0.176)					GTTGCTTGAACACAAGGAGAT	0.532													16	29					0	0	1	0	0	T	53173992	C	T	53173992	3	4	241	1	0	0	0	0	1	0	0	0	12740	478	17	2	99	2	PSMC6	14	53173992	Missense_Mutation	SNP	C	TCGA-KC-A4BV-01A-31D-A26M-08		53173992	54175548	24	11599											
PLA2G4F	255189	broad.mit.edu	37	chr15	42439840	42439840	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttaccaggtagacccagagaCcccactcaggtaggtcacag	12	6	10	13	0	2	2	2	0	0	2	2	3	2	2	4	3	1	2	4	3	3	3			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr15:42439840C>T	ENST00000397272.3	-	12	1277	c.1186G>A	c.(1186-1188)Gtc>Atc	p.V396I	PLA2G4F_ENST00000382396.4_Missense_Mutation_p.V394I	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	394	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		GACCCAGAGACCCCACTCAGG	0.602													8	188					0	0	1	0	0	T	42439840	C	T	42439840	3	4	241	1	0	0	0	0	1	0	0	0	12054	507	18	2	1405	2	PLA2G4F	15	42439840	Missense_Mutation	SNP	C	TCGA-KC-A4BV-01A-31D-A26M-08		42439840	60091552	25	11600											
DUOX1	53905	broad.mit.edu	37	chr15	45433155	45433155	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggctagagctgctccctggGggactcctggagagccaccg	6	7	15	13	1	0	2	0	0	0	2	2	4	2	3	4	4	3	3	4	4	1	1			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr15:45433155G>A	ENST00000321429.4	+	14	1859	c.1452G>A	c.(1450-1452)ggG>ggA	p.G484G	DUOX1_ENST00000561166.1_Silent_p.G130G|DUOX1_ENST00000389037.3_Silent_p.G484G	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	484	Peroxidase-like; mediates peroxidase activity.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TGCTCCCTGGGGGACTCCTGG	0.572													33	50					0	0	1	0	0	A	45433155	G	A	45433155	2	1	241	1	0	0	0	0	0	0	0	1	4826	1219	43	2		2	DUOX1	15	45433155	Silent	SNP	G	TCGA-KC-A4BV-01A-31D-A26M-08	2993315	45433155	57098237	26	11601											
MYO9A	4649	broad.mit.edu	37	chr15	72244228	72244228	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaattgcacatggcgctgtaTcatcatgtccttaggaagca	12	11	9	9	1	2	0	2	0	0	0	3	1	3	1	1	2	2	4	1	2	4	3			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr15:72244228T>C	ENST00000356056.5	-	15	2664	c.2192A>G	c.(2191-2193)gAt>gGt	p.D731G	MYO9A_ENST00000564571.1_Missense_Mutation_p.D731G|MYO9A_ENST00000424560.1_Missense_Mutation_p.D731G|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.D712G|MYO9A_ENST00000566885.1_Missense_Mutation_p.D326G	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	731					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TGGCGCTGTATCATCATGTCC	0.378													20	37					0	0	1	0	0	C	72244228	T	C	72244228	3	2	241	1	0	0	0	0	1	0	0	0	10132	1435	50	3	5566	3	MYO9A	15	72244228	Missense_Mutation	SNP	T	TCGA-KC-A4BV-01A-31D-A26M-08	26811073	72244228	30287164	27	11602											
CREBBP	1387	broad.mit.edu	37	chr16	3778981	3778981	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctggggaaggggcgcctGctgccactgcccgggaggca	5	5	18	13	2	0	0	0	0	0	0	0	2	0	2	3	6	4	3	3	6	1	0			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr16:3778981G>C	ENST00000262367.5	-	31	6876	c.6067C>G	c.(6067-6069)Cag>Gag	p.Q2023E	CREBBP_ENST00000382070.3_Missense_Mutation_p.Q1985E	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	2023					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AGGGGCGCCTGCTGCCACTGC	0.721			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						5	5					0	0	1	0	0	C	3778981	G	C	3778981	3	2	241	1	0	0	0	0	1	0	0	0	3884	1328	46	4	1265	4	CREBBP	16	3778981	Missense_Mutation	SNP	G	TCGA-KC-A4BV-01A-31D-A26M-08		3778981	86575772	28	11603											
PDPR	55066	broad.mit.edu	37	chr16	70162938	70162938	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atctcctcaacgtgcacgacCtggtgggggccatgcatgtt	7	10	12	12	2	2	0	1	0	1	0	3	1	2	0	3	3	3	3	3	3	1	1			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr16:70162938C>A	ENST00000288050.4	+	6	1477	c.520C>A	c.(520-522)Ctg>Atg	p.L174M	PDPR_ENST00000568530.1_Missense_Mutation_p.L174M|PDPR_ENST00000398122.3_Missense_Mutation_p.L74M	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	174					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		CGTGCACGACCTGGTGGGGGC	0.552													37	241					3.09479e-21	3.5168e-21	1	1	0	A	70162938	C	A	70162938	3	1	241	1	0	0	0	0	1	0	0	0	11736	680	24	4	534	4	PDPR	16	70162938	Missense_Mutation	SNP	C	TCGA-KC-A4BV-01A-31D-A26M-08	66383957	70162938	20191815	29	11604											
DNAH9	1770	broad.mit.edu	37	chr17	11687706	11687706	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcactcagcatctgaagctCggaaacttcccggcgtccct	8	9	8	16	3	3	1	2	1	1	0	6	2	5	2	2	2	3	2	2	2	2	1			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr17:11687706C>T	ENST00000262442.3	+	41	7979	c.7911C>T	c.(7909-7911)ctC>ctT	p.L2637L	DNAH9_ENST00000454412.2_Silent_p.L2637L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2637	AAA 3 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.L2637L(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ATCTGAAGCTCGGAAACTTCC	0.557													7	140					0	0	1	0	0	T	11687706	C	T	11687706	2	4	241	1	0	0	0	0	0	0	0	1	4635	871	31	1		1	DNAH9	17	11687706	Silent	SNP	C	TCGA-KC-A4BV-01A-31D-A26M-08		11687706	69507504	30	11605											
UNC13D	201294	broad.mit.edu	37	chr17	73836336	73836336	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atgagttggaactggaggtgGcactggcctcggtctgggta	7	10	17	7	1	1	1	0	1	1	0	2	3	1	3	1	7	1	3	1	7	2	2			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr17:73836336G>A	ENST00000207549.4	-	10	1207	c.828C>T	c.(826-828)tgC>tgT	p.C276C	UNC13D_ENST00000587504.1_5'UTR|UNC13D_ENST00000412096.2_Silent_p.C276C	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	276	Interaction with RAB27A.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			ACTGGAGGTGGCACTGGCCTC	0.672									Familial Hemophagocytic Lymphohistiocytosis				11	35					0	0	1	0	0	A	73836336	G	A	73836336	2	1	241	1	0	0	0	0	0	0	0	1	17047	1195	42	2		2	UNC13D	17	73836336	Silent	SNP	G	TCGA-KC-A4BV-01A-31D-A26M-08	62148630	73836336	7358874	31	11606											
PSG1	0	broad.mit.edu	37	chr19	43372351	43372351	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgctttgtagtaatatggCggataaagagcttttgtcct	10	16	10	5	1	0	1	0	0	0	1	1	2	1	2	1	2	2	4	1	2	6	8	rs150536125		TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr19:43372351C>T	ENST00000244296.2	-	5	1282	c.1145G>A	c.(1144-1146)cGc>cAc	p.R382H	PSG1_ENST00000436291.2_Missense_Mutation_p.R382H|PSG1_ENST00000595356.1_Missense_Mutation_p.R382H|PSG1_ENST00000595124.1_Missense_Mutation_p.R289H|PSG1_ENST00000403380.3_Missense_Mutation_p.R289H|PSG1_ENST00000312439.6_Missense_Mutation_p.R382H	NM_006905.2	NP_008836.2			pregnancy specific beta-1-glycoprotein 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				AGTAATATGGCGGATAAAGAG	0.463													64	103					0	0	1	0	0	T	43372351	C	T	43372351	3	4	241	1	0	0	0	0	1	0	0	0	12702	768	27	1	175	1	PSG1	19	43372351	Missense_Mutation	SNP	C	TCGA-KC-A4BV-01A-31D-A26M-08		43372351	15756632	32	11607											
SMOX	54498	broad.mit.edu	37	chr20	4155731	4155731	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgaatccagtggtgacaGtgcggatgaccctctcagtc	8	11	12	10	1	1	3	1	3	1	0	4	4	2	4	2	2	1	0	2	2	1	1			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr20:4155731G>T	ENST00000305958.4	+	2	254	c.29G>T	c.(28-30)aGt>aTt	p.S10I	SMOX_ENST00000278795.3_Missense_Mutation_p.S10I|SMOX_ENST00000346595.2_Missense_Mutation_p.S10I|SMOX_ENST00000379460.2_Missense_Mutation_p.S10I|SMOX_ENST00000339123.6_Missense_Mutation_p.S10I|SMOX_ENST00000484515.1_3'UTR	NM_175839.1	NP_787033.1	Q9NWM0	SMOX_HUMAN	spermine oxidase	10					polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity			breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	AGTGGTGACAGTGCGGATGAC	0.607													38	134					4.16155e-14	4.62394e-14	1	1	0	T	4155731	G	T	4155731	3	4	241	1	0	0	0	0	1	0	0	0	14857	1029	36	4	31	4	SMOX	20	4155731	Missense_Mutation	SNP	G	TCGA-KC-A4BV-01A-31D-A26M-08		4155731	58869789	33	11608											
ZBP1	81030	broad.mit.edu	37	chr20	56188195	56188195	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccccaccgaggtcccctcCctgggctctcttgggtgact	3	10	10	18	1	1	1	0	1	1	0	5	2	4	1	6	3	0	1	6	3	0	1	rs78386672	by1000genomes	TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr20:56188195C>T	ENST00000541799.1	-	5	792	c.694G>A	c.(694-696)Gga>Aga	p.G232R	ZBP1_ENST00000395822.3_Intron|ZBP1_ENST00000371173.3_Intron|ZBP1_ENST00000340462.4_Intron|ZBP1_ENST00000343535.4_Intron	NM_001160419.2	NP_001153891.1	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	361						cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			AGGTCCCCTCCCTGGGCTCTC	0.592													6	20					0	0	1	0	0	T	56188195	C	T	56188195	3	4	241	1	0	0	0	0	1	0	0	0	17580	632	22	2	688	2	ZBP1	20	56188195	Missense_Mutation	SNP	C	TCGA-KC-A4BV-01A-31D-A26M-08	52032464	56188195	6837325	34	11609											
PCMTD2	55251	broad.mit.edu	37	chr20	62904819	62904819	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgaagacttggaagaggaaCggagggaagaagaagagaag	18	3	18	2	1	0	6	0	1	0	5	0	11	0	10	0	4	1	0	0	4	7	1			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr20:62904819C>T	ENST00000308824.6	+	6	1079	c.952C>T	c.(952-954)Cgg>Tgg	p.R318W	PCMTD2_ENST00000299468.7_Intron|PCMTD2_ENST00000369758.3_Missense_Mutation_p.R291W|PCMTD2_ENST00000266078.6_Missense_Mutation_p.R94W	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2	318						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GGAAGAGGAACGGAGGGAAGA	0.532													33	54					0	0	1	0	0	T	62904819	C	T	62904819	3	4	241	1	0	0	0	0	1	0	0	0	11634	527	19	1	970	1	PCMTD2	20	62904819	Missense_Mutation	SNP	C	TCGA-KC-A4BV-01A-31D-A26M-08	6716624	62904819	120701	35	11610											
TBC1D10A	83874	broad.mit.edu	37	chr22	30688488	30688488	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagtccttcgggggcacaTgctgtgggggacatgcatct	6	10	15	10	1	1	1	0	1	1	0	3	2	2	2	1	4	2	3	1	4	0	1	rs61730760	byFrequency	TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chr22:30688488T>C	ENST00000215790.7	-	9	1567	c.1403A>G	c.(1402-1404)cAt>cGt	p.H468R	TBC1D10A_ENST00000403477.3_Missense_Mutation_p.H475R|TBC1D10A_ENST00000403362.1_Missense_Mutation_p.H380R|RP1-130H16.18_ENST00000447976.1_Intron	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	468						intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CGGGGGCACATGCTGTGGGGG	0.637													10	139					0	0	1	0	0	C	30688488	T	C	30688488	3	2	241	1	0	0	0	0	1	0	0	0	15655	1464	51	3	127	3	TBC1D10A	22	30688488	Missense_Mutation	SNP	T	TCGA-KC-A4BV-01A-31D-A26M-08		30688488	20616078	36	11611											
GRPR	2925	broad.mit.edu	37	chrX	16142274	16142274	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actttgatcaagatcttctgTacagtcaagtccatgcgaaa	13	12	7	9	1	4	2	2	1	2	1	5	3	5	2	1	0	2	1	1	0	4	3			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chrX:16142274T>C	ENST00000380289.2	+	1	596	c.198T>C	c.(196-198)tgT>tgC	p.C66C		NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	66					cell proliferation	integral to plasma membrane	bombesin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					AGATCTTCTGTACAGTCAAGT	0.493											OREG0019682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	57					0	0	1	0	0	C	16142274	T	C	16142274	2	2	241	1	0	0	0	0	0	0	0	1	6849	1644	57	3		3	GRPR	23	16142274	Silent	SNP	T	TCGA-KC-A4BV-01A-31D-A26M-08		16142274	139128286	37	11612											
ZMYM3	9203	broad.mit.edu	37	chrX	70462164	70462164	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcagctgtctgcagcccaaAaaacttagtgttgaagaaca	14	9	8	10	0	2	2	1	1	1	1	2	2	2	2	1	0	5	3	1	0	6	2			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chrX:70462164A>C	ENST00000373998.1	-	23	4319	c.3622T>G	c.(3622-3624)Ttt>Gtt	p.F1208V	ZMYM3_ENST00000373984.3_Intron|ZMYM3_ENST00000314425.5_Missense_Mutation_p.F1220V|ZMYM3_ENST00000353904.2_Missense_Mutation_p.F1220V|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373988.1_Missense_Mutation_p.F1222V	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1220					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TGCAGCCCAAAAAACTTAGTG	0.562													11	6					0	0	1	0	0	C	70462164	A	C	70462164	3	2	241	1	0	0	0	0	1	0	0	0	17759	14	1	5	466	5	ZMYM3	23	70462164	Missense_Mutation	SNP	A	TCGA-KC-A4BV-01A-31D-A26M-08	54319890	70462164	84808396	38	11613											
KLHL4	0	broad.mit.edu	37	chrX	86919798	86919798	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgattcatggtcaactgtgGcacctctgagtgttcctcga	7	13	11	10	1	3	2	2	2	1	0	5	3	4	2	2	2	1	2	2	2	1	2			TCGA-KC-A4BV-01A-31D-A26M-08	TCGA-KC-A4BV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f61d1174-470f-4318-9bd9-defe72f8afd2	8329fc61-dda7-4b68-8988-2f6c1214cc2c	g.chrX:86919798G>C	ENST00000373119.4	+	10	2105	c.1960G>C	c.(1960-1962)Gca>Cca	p.A654P	KLHL4_ENST00000373114.4_Missense_Mutation_p.A654P	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	654						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						GTCAACTGTGGCACCTCTGAG	0.418													10	7					0	0	1	0	0	C	86919798	G	C	86919798	3	2	241	1	0	0	0	0	1	0	0	0	8434	1203	42	4	1998	4	KLHL4	23	86919798	Missense_Mutation	SNP	G	TCGA-KC-A4BV-01A-31D-A26M-08	16457634	86919798	68350762	39	11614											
PLEKHN1	84069	broad.mit.edu	37	chr1	909722	909722	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgccagggaaggttcgccCgaaccctggctgcctctgac	6	8	12	15	2	2	1	0	1	2	0	3	3	2	2	4	3	3	2	4	3	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:909722C>T	ENST00000379409.2	+	14	1866	c.1836C>T	c.(1834-1836)ccC>ccT	p.P612P	PLEKHN1_ENST00000379410.3_Silent_p.P560P|PLEKHN1_ENST00000379407.2_Silent_p.P525P			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	612				P -> S (in Ref. 4; AAI01388).						central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		AAGGTTCGCCCGAACCCTGGC	0.627													20	109					0	0	1	0	0	T	909722	C	T	909722	2	4	242	1	0	0	0	0	0	0	0	1	12131	639	23	1		1	PLEKHN1	1	909722	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08		909722	248340899	1	11615											
TNFRSF18	8784	broad.mit.edu	37	chr1	1140762	1140762	+	Frame_Shift_Del	DEL	C	C	-																															ggacttaccctgggactgtaCcccctggcctgggggacaag																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:1140762delC	ENST00000379268.2	-	2	417	c.298delG	c.(298-300)tafs	p.V100fs	TNFRSF18_ENST00000486728.1_Frame_Shift_Del_p.V28fs|TNFRSF18_ENST00000328596.6_Frame_Shift_Del_p.V100fs|TNFRSF18_ENST00000379265.5_Frame_Shift_Del_p.V100fs	NM_004195.2|NM_148902.1	NP_004186.1|NP_683700.1	Q9Y5U5	TNR18_HUMAN	tumor necrosis factor receptor superfamily, member 18	100					anti-apoptosis|apoptosis	extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity			lung(1)	1	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TGGGACTGTACCCCCTGGCCT	0.657													9	26	---	---	---	---						-	1140762	C	-	1140762	7	5	242	1	0	1	0	1	0	0	0	0	16351	507	18	0	696	0	TNFRSF18	1	1140762	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	231040	1140762	248109859	2	11616											
TNFRSF4	7293	broad.mit.edu	37	chr1	1147441	1147441	+	Frame_Shift_Del	DEL	G	G	-																															tctcctggggctgcgtggctGgggggtccctgtcctcacag																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:1147441delG	ENST00000379236.3	-	5	519	c.515delC	c.(514-516)cafs	p.P172fs	TNFRSF4_ENST00000453580.1_5'UTR	NM_003327.3	NP_003318.1	P43489	TNR4_HUMAN	tumor necrosis factor receptor superfamily, member 4	172					immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation	integral to plasma membrane	tumor necrosis factor receptor activity			large_intestine(1)|lung(2)|urinary_tract(1)	4	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTGCGTGGCTGGGGGGTCCCT	0.677													12	34	---	---	---	---						-	1147441	G	-	1147441	7	5	242	1	0	1	0	1	0	0	0	0	16357	1348	47	0	330	0	TNFRSF4	1	1147441	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	6679	1147441	248103180	3	11617											
GNB1	2782	broad.mit.edu	37	chr1	1720558	1720558	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcgtacccagcaaggaggaGgcgcccgctcttggagaagg	9	5	16	11	3	1	1	0	0	1	1	2	4	1	3	2	5	2	3	2	5	3	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:1720558G>T	ENST00000378609.4	-	10	1181	c.850C>A	c.(850-852)Ctc>Atc	p.L284I		NM_002074.3	NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1	284					cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|GTPase binding|signal transducer activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		GCAAGGAGGAGGCGCCCGCTC	0.577											OREG0012998	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	47					1.49906e-05	1.53742e-05	1	1	0	T	1720558	G	T	1720558	3	4	242	1	0	0	0	0	1	0	0	0	6557	1000	35	4	180	4	GNB1	1	1720558	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	573117	1720558	247530063	4	11618											
AJAP1	55966	broad.mit.edu	37	chr1	4772604	4772604	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccaccaccaccaccaccaCggccacccccatgacgctgc	10	2	5	24	2	0	1	0	1	0	0	0	1	0	1	9	1	1	1	9	1	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:4772604C>T	ENST00000378191.4	+	2	1055	c.674C>T	c.(673-675)aCg>aTg	p.T225M	AJAP1_ENST00000378190.3_Missense_Mutation_p.T225M	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	225	Thr-rich.				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		accaccaccacggccaccccc	0.612													17	35					0	0	1	0	0	T	4772604	C	T	4772604	3	4	242	1	0	0	0	0	1	0	0	0	435	536	19	1	680	1	AJAP1	1	4772604	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	3052046	4772604	244478017	5	11619											
CHD5	26038	broad.mit.edu	37	chr1	6181216	6181216	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttctccgtctcctctggccGctcctctcgggctctctcct	0	14	7	20	3	5	0	0	0	5	0	11	0	7	0	5	2	0	2	5	2	0	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:6181216G>A	ENST00000262450.3	-	33	4960	c.4861C>T	c.(4861-4863)Cgg>Tgg	p.R1621W	CHD5_ENST00000378021.1_Missense_Mutation_p.R478W	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1621					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TCCTCTGGCCGCTCCTCTCGG	0.662													8	27					0	0	1	0	0	A	6181216	G	A	6181216	3	1	242	1	0	0	0	0	1	0	0	0	3350	1086	38	1	1039	1	CHD5	1	6181216	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1408612	6181216	243069405	6	11620											
ICMT	23463	broad.mit.edu	37	chr1	6285255	6285255	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agatttcttcttcttctgttCgatcgcggaagaatcgccac	8	14	8	11	4	4	2	0	0	4	2	7	4	4	3	1	1	0	1	1	1	2	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:6285255C>T	ENST00000343813.5	-	5	768	c.740G>A	c.(739-741)cGa>cAa	p.R247Q		NM_012405.3	NP_036537.1	O60725	ICMT_HUMAN	isoprenylcysteine carboxyl methyltransferase	247					protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein C-terminal S-isoprenylcysteine carboxyl O-methyltransferase activity			NS(1)|endometrium(2)	3	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;2.4e-22)|all_lung(118;2.65e-08)|Lung NSC(185;6.45e-07)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000688)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;5.52e-38)|GBM - Glioblastoma multiforme(13;6.51e-32)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;7.08e-08)|COAD - Colon adenocarcinoma(227;8.35e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		TTCTTCTGTTCGATCGCGGAA	0.522													27	99					0	0	1	0	0	T	6285255	C	T	6285255	3	4	242	1	0	0	0	0	1	0	0	0	7529	884	31	1	118	1	ICMT	1	6285255	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	104039	6285255	242965366	7	11621											
GPR153	387509	broad.mit.edu	37	chr1	6314755	6314755	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgaagtcggggcgctgccGccgcagctgcaccacggagt	6	5	15	15	6	0	0	0	0	0	0	2	2	0	1	3	3	3	4	3	3	1	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:6314755G>A	ENST00000377893.2	-	2	470	c.211C>T	c.(211-213)Cgg>Tgg	p.R71W		NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	71						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		GGGCGCTGCCGCCGCAGCTGC	0.612													46	106					0	0	1	0	0	A	6314755	G	A	6314755	3	1	242	1	0	0	0	0	1	0	0	0	6699	1086	38	1	1638	1	GPR153	1	6314755	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	29500	6314755	242935866	8	11622											
H6PD	9563	broad.mit.edu	37	chr1	9324290	9324290	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaccgctgtgcgagccgtgCggcgctttggccagttccac	4	8	13	16	5	0	0	0	0	0	0	1	1	1	0	5	2	3	3	5	2	0	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:9324290C>T	ENST00000377403.2	+	5	2040	c.1738C>T	c.(1738-1740)Cgg>Tgg	p.R580W	H6PD_ENST00000602477.1_Missense_Mutation_p.R591W	NM_004285.3	NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	580	6-phosphogluconolactonase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	GCGAGCCGTGCGGCGCTTTGG	0.677													11	23					0	0	1	0	0	T	9324290	C	T	9324290	3	4	242	1	0	0	0	0	1	0	0	0	6977	759	27	1	1752	1	H6PD	1	9324290	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	3009535	9324290	239926331	9	11623											
EXOSC10	5394	broad.mit.edu	37	chr1	11142844	11142844	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgcccaggttaagaaggCgtgctgcctgatgagtatca	9	9	13	10	1	1	3	1	2	0	1	1	3	1	3	3	2	3	3	3	2	3	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:11142844C>T	ENST00000544779.1	-	10	1186	c.1181G>A	c.(1180-1182)cGc>cAc	p.R394H	EXOSC10_ENST00000376936.4_Missense_Mutation_p.R394H|EXOSC10_ENST00000304457.7_Missense_Mutation_p.R394H			Q01780	EXOSX_HUMAN	exosome component 10	394					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		GTTAAGAAGGCGTGCTGCCTG	0.448													4	149					0	0	1	0	0	T	11142844	C	T	11142844	3	4	242	1	0	0	0	0	1	0	0	0	5341	768	27	1	1540	1	EXOSC10	1	11142844	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1818554	11142844	238107777	10	11624											
EXOSC10	5394	broad.mit.edu	37	chr1	11158106	11158106	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacctgtctccctgtgtttcGcaaaatgcttggaagccagg	9	11	10	11	1	1	0	0	0	1	0	3	1	1	1	3	2	3	3	3	2	4	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:11158106G>A	ENST00000544779.1	-	2	224	c.219C>T	c.(217-219)tgC>tgT	p.C73C	EXOSC10_ENST00000376936.4_Silent_p.C73C|EXOSC10_ENST00000304457.7_Silent_p.C73C			Q01780	EXOSX_HUMAN	exosome component 10	73					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		CCTGTGTTTCGCAAAATGCTT	0.428													3	26					0	0	1	0	0	A	11158106	G	A	11158106	2	1	242	1	0	0	0	0	0	0	0	1	5341	1079	38	1		1	EXOSC10	1	11158106	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	15262	11158106	238092515	11	11625											
SPEN	23013	broad.mit.edu	37	chr1	16259480	16259480	+	Frame_Shift_Del	DEL	C	C	-																															aatcccagacagatctgcaaCcccccgcaggtgcacaggcg																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:16259480delC	ENST00000375759.3	+	11	6949	c.6745delC	c.(6745-6747)ccfs	p.P2250fs		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2250	Interaction with MSX2 (By similarity).|RID.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	p.A2251fs*102(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AGATCTGCAACCCCCCGCAGG	0.557													47	159	---	---	---	---						-	16259480	C	-	16259480	7	5	242	1	0	1	0	1	0	0	0	0	15094	507	18	0	6787	0	SPEN	1	16259480	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	5101374	16259480	232991141	12	11626											
CROCC	9696	broad.mit.edu	37	chr1	17279878	17279878	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaggaggagctgctggccCggctggaggctgagaaggaa	10	4	19	8	1	0	1	0	1	0	1	0	6	0	5	1	7	3	5	1	7	2	0	rs111474169		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:17279878C>T	ENST00000375541.5	+	21	3157	c.3088C>T	c.(3088-3090)Cgg>Tgg	p.R1030W	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	1030					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GCTGCTGGCCCGGCTGGAGGC	0.672													16	28					0	0	1	0	0	T	17279878	C	T	17279878	3	4	242	1	0	0	0	0	1	0	0	0	3916	643	23	1	3170	1	CROCC	1	17279878	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1020398	17279878	231970743	13	11627											
RCC2	55920	broad.mit.edu	37	chr1	17735625	17735625	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattctggcagtttcttgatCttctctttctcagtctcact	5	20	5	11	0	6	1	2	1	6	0	9	1	6	1	0	1	0	2	0	1	1	6			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:17735625C>A	ENST00000375436.4	-	13	1717	c.1530G>T	c.(1528-1530)aaG>aaT	p.K510N	RCC2_ENST00000375433.3_Missense_Mutation_p.K510N	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	510					cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle				breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		GTTTCTTGATCTTCTCTTTCT	0.547													7	170					0.000157383	0.000160498	1	1	0	A	17735625	C	A	17735625	3	1	242	1	0	0	0	0	1	0	0	0	13226	912	32	4	42	4	RCC2	1	17735625	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	455747	17735625	231514996	14	11628											
CAPZB	832	broad.mit.edu	37	chr1	19666098	19666098	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgttttgatttgtctgcaaAagtctgcacagacctgcaag	10	14	9	8	0	2	2	0	1	2	1	2	2	2	2	1	0	3	4	1	0	3	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:19666098A>G	ENST00000264203.3	-	9	1239	c.746T>C	c.(745-747)tTt>tCt	p.F249S	CAPZB_ENST00000401084.2_Missense_Mutation_p.F249L|CAPZB_ENST00000375144.1_Missense_Mutation_p.F237L|CAPZB_ENST00000433834.1_Missense_Mutation_p.F278L|CAPZB_ENST00000375142.1_3'UTR			P47756	CAPZB_HUMAN	capping protein (actin filament) muscle Z-line, beta	0					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement	cytosol|F-actin capping protein complex|WASH complex	actin binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173)		TTGTCTGCAAAAGTCTGCACA	0.522													7	203					0	0	1	0	0	G	19666098	A	G	19666098	3	3	242	1	0	0	0	0	1	0	0	0	2661	14	1	3	77	3	CAPZB	1	19666098	Missense_Mutation	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	1930473	19666098	229584523	15	11629											
HTR6	3362	broad.mit.edu	37	chr1	20005666	20005666	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgccgctgcccctgccgccGgactcagattcggactcaga	6	7	11	17	4	2	2	2	0	0	2	3	4	2	4	5	2	3	1	5	2	0	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:20005666G>A	ENST00000289753.1	+	3	1595	c.1128G>A	c.(1126-1128)ccG>ccA	p.P376P		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	376					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	CCCTGCCGCCGGACTCAGATT	0.736													6	15					0	0	1	0	0	A	20005666	G	A	20005666	2	1	242	1	0	0	0	0	0	0	0	1	7495	1103	39	1		1	HTR6	1	20005666	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	339568	20005666	229244955	16	11630											
TMCO4	255104	broad.mit.edu	37	chr1	20009647	20009650	+	Frame_Shift_Del	DEL	AGGA	AGGA	-																															ctttcagggctggcagcagcAggaagggaggccccttcaga																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:20009647_20009650delAGGA	ENST00000294543.6	-	16	2029_2032	c.1788_1791delTCCT	c.(1786-1791)ctfs	p.LP596fs	TMCO4_ENST00000489814.1_5'UTR|TMCO4_ENST00000375122.2_Frame_Shift_Del_p.LP556fs|TMCO4_ENST00000375127.1_Intron	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	596						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		TGGCAGCAGCAGGAAGGGAGGCCC	0.647													23	99	---	---	---	---						-	20009650	AGGA	-	20009647	7	5	242	1	0	1	0	1	0	0	0	0	16058	175	7	0	117	0	TMCO4	1	20009647	Frame_Shift_Del	DEL	AGGA	TCGA-KK-A59V-01A-11D-A29Q-08	3981	20009647	229240974	17	11631											
KIF17	57576	broad.mit.edu	37	chr1	21014273	21014273	+	Frame_Shift_Del	DEL	G	G	-																															cgcaaacctggaggaaacctGagtcttggagacatcgtcac																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:21014273delG	ENST00000247986.2	-	8	1856	c.1546delC	c.(1546-1548)agfs	p.Q516fs	KIF17_ENST00000400463.3_Frame_Shift_Del_p.Q516fs|KIF17_ENST00000490034.1_Intron|KIF17_ENST00000375044.1_Frame_Shift_Del_p.Q416fs			Q9P2E2	KIF17_HUMAN	kinesin family member 17	516					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		GAGGAAACCTGAGTCTTGGAG	0.542													14	137	---	---	---	---						-	21014273	G	-	21014273	7	5	242	1	0	1	0	1	0	0	0	0	8321	1299	45	0	1575	0	KIF17	1	21014273	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	1004626	21014273	228236348	18	11632											
HSPG2	3339	broad.mit.edu	37	chr1	22161191	22161191	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgcacaagcagcaggacGtgggattgtgtggtgccagc	8	8	15	10	1	0	0	0	0	0	0	0	2	0	2	2	3	5	3	2	3	1	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:22161191G>A	ENST00000374695.3	-	77	10780	c.10701C>T	c.(10699-10701)caC>caT	p.H3567H		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3567	Ig-like C2-type 21.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GCAGCAGGACGTGGGATTGTG	0.622													16	29					0	0	1	0	0	A	22161191	G	A	22161191	2	1	242	1	0	0	0	0	0	0	0	1	7474	1136	40	1		1	HSPG2	1	22161191	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1146918	22161191	227089430	19	11633											
HSPG2	3339	broad.mit.edu	37	chr1	22169275	22169275	+	Frame_Shift_Del	DEL	G	G	-																															ccctgtacctggtgccgggcGgggaggctgcccccgcgctt																								rs149203308		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:22169275delG	ENST00000374695.3	-	67	8977	c.8898delC	c.(8896-8898)ccfs	p.P2966fs		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2966	Ig-like C2-type 15.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GGTGCCGGGCGGGGAGGCTGC	0.617													8	101	---	---	---	---						-	22169275	G	-	22169275	7	5	242	1	0	1	0	1	0	0	0	0	7474	1103	39	0	4401	0	HSPG2	1	22169275	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	8084	22169275	227081346	20	11634											
EPHB2	2048	broad.mit.edu	37	chr1	23234628	23234628	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcacgctttctagaggaCgatacctcagaccccaccta	10	9	6	16	2	3	2	2	0	2	2	4	4	3	3	4	1	1	1	4	1	3	4	rs141632768		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:23234628C>T	ENST00000400191.3	+	12	2337	c.2319C>T	c.(2317-2319)gaC>gaT	p.D773D	EPHB2_ENST00000374627.1_Silent_p.D768D|EPHB2_ENST00000374632.3_Silent_p.D774D|EPHB2_ENST00000374630.3_Silent_p.D773D	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	773	Protein kinase.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		TTCTAGAGGACGATACCTCAG	0.567													23	62					0	0	1	0	0	T	23234628	C	T	23234628	2	4	242	1	0	0	0	0	0	0	0	1	5203	535	19	1		1	EPHB2	1	23234628	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1065353	23234628	226015993	21	11635											
MAN1C1	57134	broad.mit.edu	37	chr1	26012962	26012962	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcttggcagagctataagcGttatgcaatggggaaaaacg	13	9	13	6	2	0	1	0	0	0	1	0	2	0	2	0	3	5	5	0	3	6	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:26012962G>A	ENST00000374332.4	+	2	902	c.572G>A	c.(571-573)cGt>cAt	p.R191H	MAN1C1_ENST00000263979.3_Missense_Mutation_p.R11H	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	191					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		AGCTATAAGCGTTATGCAATG	0.493													44	127					0	0	1	0	0	A	26012962	G	A	26012962	3	1	242	1	0	0	0	0	1	0	0	0	9263	1145	40	1	578	1	MAN1C1	1	26012962	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	2778334	26012962	223237659	22	11636											
PAQR7	164091	broad.mit.edu	37	chr1	26189723	26189723	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggcacctcctggcatgtgCggcccagcaggcctggtttc	5	8	14	14	1	0	0	0	0	0	0	2	0	1	0	4	5	2	4	4	5	0	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:26189723C>T	ENST00000374296.3	-	2	1274	c.608G>A	c.(607-609)cGc>cAc	p.R203H	RP1-125I3.2_ENST00000455431.1_RNA	NM_178422.5	NP_848509.1	Q86WK9	MPRA_HUMAN	progestin and adipoQ receptor family member VII	203					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGCATGTGCGGCCCAGCAG	0.582													27	58					0	0	1	0	0	T	26189723	C	T	26189723	3	4	242	1	0	0	0	0	1	0	0	0	11487	768	27	1	436	1	PAQR7	1	26189723	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	176761	26189723	223060898	23	11637											
ARID1A	8289	broad.mit.edu	37	chr1	27101370	27101370	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggccttcccatggcacacGccagcccccatatggtccct	6	8	9	18	1	0	0	0	0	0	0	2	0	2	0	6	3	1	1	6	3	1	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:27101370G>A	ENST00000324856.7	+	18	5023	c.4652G>A	c.(4651-4653)cGc>cAc	p.R1551H	ARID1A_ENST00000374152.2_Missense_Mutation_p.R1168H|ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000540690.1_Intron	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1551					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CATGGCACACGCCAGCCCCCA	0.612			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								20	61					0	0	1	0	0	A	27101370	G	A	27101370	3	1	242	1	0	0	0	0	1	0	0	0	910	1087	38	1	4722	1	ARID1A	1	27101370	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	911647	27101370	222149251	24	11638											
WDTC1	23038	broad.mit.edu	37	chr1	27630137	27630137	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaagggacctggtggcggCgccccagtccgcctccgcag	7	4	15	15	4	0	1	0	0	0	1	2	2	2	2	6	4	0	1	6	4	2	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:27630137C>T	ENST00000319394.3	+	14	2029	c.1494C>T	c.(1492-1494)ggC>ggT	p.G498G	WDTC1_ENST00000361771.3_Silent_p.G497G	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	498							protein binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		CTGGTGGCGGCGCCCCAGTCC	0.592													25	61					0	0	1	0	0	T	27630137	C	T	27630137	2	4	242	1	0	0	0	0	0	0	0	1	17402	755	27	1		1	WDTC1	1	27630137	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	528767	27630137	221620484	25	11639											
AHDC1	27245	broad.mit.edu	37	chr1	27873946	27873946	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgggtacctgtaggcggtgtCctgcaggggcagcagcgagt	6	8	18	9	2	0	0	0	0	0	0	1	1	1	0	2	5	4	5	2	5	2	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:27873946C>T	ENST00000374011.2	-	6	5649	c.4681G>A	c.(4681-4683)Gac>Aac	p.D1561N	AHDC1_ENST00000482400.2_Intron|AHDC1_ENST00000247087.5_Missense_Mutation_p.D1561N	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1561							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		TAGGCGGTGTCCTGCAGGGGC	0.692													7	125					0	0	1	0	0	T	27873946	C	T	27873946	3	4	242	1	0	0	0	0	1	0	0	0	409	855	30	2	134	2	AHDC1	1	27873946	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	243809	27873946	221376675	26	11640											
XKR8	55113	broad.mit.edu	37	chr1	28290024	28290024	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctaggtgcgtgcaggagctgCggcaggggctgctggtgtgg	4	8	21	8	2	0	0	0	0	0	0	0	1	0	1	0	7	5	5	0	7	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:28290024C>T	ENST00000373884.5	+	2	918	c.310C>T	c.(310-312)Cgg>Tgg	p.R104W		NM_018053.2	NP_060523.2	Q9H6D3	XKR8_HUMAN	XK, Kell blood group complex subunit-related family, member 8	104						integral to membrane				endometrium(1)|large_intestine(2)|lung(1)	4		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;4.72e-24)|Colorectal(126;1.52e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00572)|READ - Rectum adenocarcinoma(331;0.0526)		GCAGGAGCTGCGGCAGGGGCT	0.607													15	63					0	0	1	0	0	T	28290024	C	T	28290024	3	4	242	1	0	0	0	0	1	0	0	0	17497	759	27	1	316	1	XKR8	1	28290024	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	416078	28290024	220960597	27	11641											
YTHDF2	51441	broad.mit.edu	37	chr1	29069851	29069851	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgggtagcacctcggaacCgtggcagtgggttcggtcat	6	9	16	10	3	1	0	1	0	0	0	3	1	1	1	2	5	2	5	2	5	2	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:29069851C>T	ENST00000373812.3	+	4	1431	c.1069C>T	c.(1069-1071)Cgt>Tgt	p.R357C	YTHDF2_ENST00000542507.1_Missense_Mutation_p.R357C|YTHDF2_ENST00000478283.1_3'UTR|YTHDF2_ENST00000541996.1_Missense_Mutation_p.R307C	NM_016258.2	NP_057342.2	Q9Y5A9	YTHD2_HUMAN	YTH domain family, member 2	357					humoral immune response					NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		ACCTCGGAACCGTGGCAGTGG	0.582													7	178					0	0	1	0	0	T	29069851	C	T	29069851	3	4	242	1	0	0	0	0	1	0	0	0	17559	652	23	1	1083	1	YTHDF2	1	29069851	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	779827	29069851	220180770	28	11642											
SDC3	9672	broad.mit.edu	37	chr1	31347383	31347383	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactgggccccccactcaccGgaacctctggctcatcccgg	6	6	9	20	2	3	0	2	0	1	0	4	1	4	1	6	4	1	1	6	4	1	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:31347383G>A	ENST00000336798.7	-	2	2241	c.749C>T	c.(748-750)cCg>cTg	p.P250L	SDC3_ENST00000339394.6_Missense_Mutation_p.P308L			O75056	SDC3_HUMAN	syndecan 3	308	Ser/Thr-rich (mucin-like).					integral to membrane	cytoskeletal protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		CCCACTCACCGGAACCTCTGG	0.602													40	101					0	0	1	0	0	A	31347383	G	A	31347383	3	1	242	1	0	0	0	0	1	0	0	0	14007	1116	39	1	413	1	SDC3	1	31347383	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	2277532	31347383	217903238	29	11643											
TINAGL1	64129	broad.mit.edu	37	chr1	32050601	32050601	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagggctgccgcggtgggcGtctcgatggtgcctggtggt	2	9	20	10	4	1	0	0	0	1	0	2	1	1	0	2	6	2	2	2	6	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:32050601G>A	ENST00000271064.7	+	7	897	c.821G>A	c.(820-822)cGt>cAt	p.R274H	TINAGL1_ENST00000537531.1_3'UTR|TINAGL1_ENST00000481165.1_3'UTR|TINAGL1_ENST00000457433.2_Missense_Mutation_p.R243H	NM_001204415.1|NM_022164.2	NP_001191344.1|NP_071447.1	Q9GZM7	TINAL_HUMAN	tubulointerstitial nephritis antigen-like 1	274					endosome transport|immune response|proteolysis	extracellular region	cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity			breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		CGCGGTGGGCGTCTCGATGGT	0.642													33	101					0	0	1	0	0	A	32050601	G	A	32050601	3	1	242	1	0	0	0	0	1	0	0	0	15982	1145	40	1	843	1	TINAGL1	1	32050601	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	703218	32050601	217200020	30	11644											
COL16A1	1307	broad.mit.edu	37	chr1	32130816	32130816	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggccaggtgatccaactttgCctgggaatccagggggaccc	8	7	14	12	0	0	1	0	1	0	0	2	3	2	3	5	5	2	0	5	5	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:32130816C>A	ENST00000373672.3	-	56	4028	c.3512G>T	c.(3511-3513)gGc>gTc	p.G1171V	COL16A1_ENST00000271069.6_Missense_Mutation_p.G1171V	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	1171	Triple-helical region 2 (COL2) with 2 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		TCCAACTTTGCCTGGGAATCC	0.577													10	120					4.68919e-08	4.84132e-08	1	1	0	A	32130816	C	A	32130816	3	1	242	1	0	0	0	0	1	0	0	0	3696	739	26	4	1366	4	COL16A1	1	32130816	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	80215	32130816	217119805	31	11645											
KIAA1522	57648	broad.mit.edu	37	chr1	33233495	33233495	+	Frame_Shift_Del	DEL	C	C	-																															tcttctttcccagtgggcgaCccccccacctggaagagctg																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:33233495delC	ENST00000401073.2	+	2	413	c.343delC	c.(343-345)ccfs	p.P116fs	KIAA1522_ENST00000373481.3_Frame_Shift_Del_p.P68fs|KIAA1522_ENST00000294521.3_Frame_Shift_Del_p.P57fs|KIAA1522_ENST00000373480.1_Frame_Shift_Del_p.P57fs	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	57										breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CAGTGGGCGACCCCCCCACCT	0.612													28	90	---	---	---	---						-	33233495	C	-	33233495	7	5	242	1	0	1	0	1	0	0	0	0	8280	507	18	0	349	0	KIAA1522	1	33233495	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	1102679	33233495	216017126	32	11646											
PHC2	1912	broad.mit.edu	37	chr1	33799804	33799804	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accattctggggggcagtgcCggcgatgctggaggcagagt	7	7	18	9	2	1	1	0	0	1	1	1	3	1	2	2	6	2	3	2	6	0	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:33799804C>T	ENST00000257118.5	-	9	1698	c.1645G>A	c.(1645-1647)Ggc>Agc	p.G549S	PHC2_ENST00000485928.1_5'UTR|PHC2_ENST00000373422.3_Missense_Mutation_p.G155S|PHC2_ENST00000373416.1_Missense_Mutation_p.G14S|PHC2_ENST00000373418.3_Missense_Mutation_p.G14S|PHC2_ENST00000431992.1_Missense_Mutation_p.G520S|PHC2_ENST00000419414.2_Missense_Mutation_p.G550S	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	549					multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GGGGCAGTGCCGGCGATGCTG	0.582													51	109					0	0	1	0	0	T	33799804	C	T	33799804	3	4	242	1	0	0	0	0	1	0	0	0	11865	652	23	1	955	1	PHC2	1	33799804	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	566309	33799804	215450817	33	11647											
ZMYM1	79830	broad.mit.edu	37	chr1	35579045	35579045	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgatggagctgtcagtgaCgatttatctattcattcgaa	10	15	10	6	2	3	2	2	2	1	0	4	5	3	3	0	1	1	1	0	1	3	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:35579045C>T	ENST00000373330.1	+	11	1788	c.1614C>T	c.(1612-1614)gaC>gaT	p.D538D	ZMYM1_ENST00000359858.4_Silent_p.D538D|ZMYM1_ENST00000373329.1_3'UTR			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	538						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTGTCAGTGACGATTTATCTA	0.313													4	173					0	0	1	0	0	T	35579045	C	T	35579045	2	4	242	1	0	0	0	0	0	0	0	1	17757	535	19	1		1	ZMYM1	1	35579045	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1779241	35579045	213671576	34	11648											
KIAA0319L	79932	broad.mit.edu	37	chr1	35916052	35916052	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccatccagctctgctgtgctCgtgggtagggtaatcaccac	7	10	11	13	1	2	0	1	0	1	0	4	0	3	0	3	2	3	5	3	2	2	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:35916052C>T	ENST00000325722.3	-	14	2355	c.2121G>A	c.(2119-2121)acG>acA	p.T707T	KIAA0319L_ENST00000373266.4_Silent_p.T144T|KIAA0319L_ENST00000485551.1_5'UTR	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	707	PKD 5.					cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTGCTGTGCTCGTGGGTAGGG	0.463													34	84					0	0	1	0	0	T	35916052	C	T	35916052	2	4	242	1	0	0	0	0	0	0	0	1	8211	871	31	1		1	KIAA0319L	1	35916052	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	337007	35916052	213334569	35	11649											
CSF3R	1441	broad.mit.edu	37	chr1	36939479	36939479	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggagaggttgtggggtatgGctggagggtctgcatgtggg	6	10	22	3	0	1	1	0	0	1	1	1	3	1	2	0	8	1	4	0	8	1	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:36939479G>A	ENST00000373103.1	-	5	918	c.371C>T	c.(370-372)gCc>gTc	p.A124V	CSF3R_ENST00000418048.2_Missense_Mutation_p.A124V|CSF3R_ENST00000373106.1_Missense_Mutation_p.A124V|CSF3R_ENST00000440588.2_Missense_Mutation_p.A124V|CSF3R_ENST00000373104.1_Missense_Mutation_p.A124V|CSF3R_ENST00000361632.4_Missense_Mutation_p.A124V|CSF3R_ENST00000338937.5_Missense_Mutation_p.A124V|CSF3R_ENST00000331941.5_Missense_Mutation_p.A124V	NM_156039.3	NP_724781.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	124	Fibronectin type-III 1.				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GTGGGGTATGGCTGGAGGGTC	0.607													27	62					0	0	1	0	0	A	36939479	G	A	36939479	3	1	242	1	0	0	0	0	1	0	0	0	3962	1203	42	2	2381	2	CSF3R	1	36939479	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1023427	36939479	212311142	36	11650											
GRIK3	2899	broad.mit.edu	37	chr1	37316002	37316002	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcagtgatgttgagcccGtcggcaggactccacacccc	8	7	10	16	2	1	2	1	2	0	0	3	3	2	3	5	2	1	2	5	2	0	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:37316002G>A	ENST00000373091.3	-	9	1252	c.1236C>T	c.(1234-1236)gaC>gaT	p.D412D	GRIK3_ENST00000462621.1_5'UTR|GRIK3_ENST00000373093.4_Silent_p.D412D	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	412					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	TGTTGAGCCCGTCGGCAGGAC	0.537													23	36					0	0	1	0	0	A	37316002	G	A	37316002	2	1	242	1	0	0	0	0	0	0	0	1	6816	1136	40	1		1	GRIK3	1	37316002	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	376523	37316002	211934619	37	11651											
EPHA10	284656	broad.mit.edu	37	chr1	38197158	38197158	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggccccggggaagcggcccGgatctgaaagacgtagcggg	8	4	18	11	5	1	2	0	1	1	1	1	4	1	4	3	6	2	1	3	6	3	1	rs145892280	by1000genomes	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:38197158G>A	ENST00000373048.4	-	7	1587	c.1588C>T	c.(1588-1590)Cgg>Tgg	p.R530W	EPHA10_ENST00000330210.7_Missense_Mutation_p.R25W|EPHA10_ENST00000540011.1_Missense_Mutation_p.R25W|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000427468.2_Missense_Mutation_p.R530W	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	530	Fibronectin type-III 2.					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GAAGCGGCCCGGATCTGAAAG	0.602													4	173					0	0	1	0	0	A	38197158	G	A	38197158	3	1	242	1	0	0	0	0	1	0	0	0	5194	1115	39	1	1482	1	EPHA10	1	38197158	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	881156	38197158	211053463	38	11652											
MACF1	23499	broad.mit.edu	37	chr1	39788607	39788607	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacttaaggactcgctacaCggcattggtgactttaacaa	12	10	10	9	2	0	1	0	1	0	0	1	3	0	3	0	4	2	2	0	4	4	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:39788607C>T	ENST00000564288.1	+	33	4940	c.4163C>T	c.(4162-4164)aCg>aTg	p.T1388M	MACF1_ENST00000372915.3_Missense_Mutation_p.T1393M|MACF1_ENST00000567887.1_Missense_Mutation_p.T1425M|MACF1_ENST00000317713.7_Missense_Mutation_p.T1393M|MACF1_ENST00000545844.1_Missense_Mutation_p.T1393M|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000361689.2_Missense_Mutation_p.T1393M|MACF1_ENST00000539005.1_Missense_Mutation_p.T1393M			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1393					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ACTCGCTACACGGCATTGGTG	0.418													9	226					0	0	1	0	0	T	39788607	C	T	39788607	3	4	242	1	0	0	0	0	1	0	0	0	9190	536	19	1	4304	1	MACF1	1	39788607	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1591449	39788607	209462014	39	11653											
MACF1	23499	broad.mit.edu	37	chr1	39906934	39906935	+	Frame_Shift_Del	DEL	AG	AG	-																															aacttaaacaaaacatggaaAgagaggctagaaaaacttga																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:39906934_39906935delAG	ENST00000564288.1	+	74	19386_19387	c.18609_18610delAG	c.(18607-18612)aaagfs	p.KE6203fs	MACF1_ENST00000567887.1_Frame_Shift_Del_p.KE6240fs|MACF1_ENST00000317713.7_Frame_Shift_Del_p.KE4144fs|MACF1_ENST00000372915.3_Frame_Shift_Del_p.KE6102fs|MACF1_ENST00000539005.1_Frame_Shift_Del_p.KE4014fs|MACF1_ENST00000545844.1_Frame_Shift_Del_p.KE4144fs|MACF1_ENST00000361689.2_Frame_Shift_Del_p.KE4144fs|MACF1_ENST00000289893.4_Frame_Shift_Del_p.KE4646fs			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6212					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AAACATGGAAAGAGAGGCTAGA	0.441													30	107	---	---	---	---						-	39906935	AG	-	39906934	7	5	242	1	0	1	0	1	0	0	0	0	9190	69	3	0	18861	0	MACF1	1	39906934	Frame_Shift_Del	DEL	AG	TCGA-KK-A59V-01A-11D-A29Q-08	118327	39906934	209343687	40	11654											
RIMKLA	284716	broad.mit.edu	37	chr1	42880409	42880409	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agactggaaagatggctgtcCtcccaggactgtcgagtcca	10	8	12	11	1	0	2	0	0	0	2	4	5	3	4	3	3	0	1	3	3	1	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:42880409C>A	ENST00000431473.3	+	5	1069	c.940C>A	c.(940-942)Ctc>Atc	p.L314I		NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family member A	314					protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						GATGGCTGTCCTCCCAGGACT	0.532													25	95					1.10923e-09	1.14961e-09	1	1	0	A	42880409	C	A	42880409	3	1	242	1	0	0	0	0	1	0	0	0	13417	681	24	4	958	4	RIMKLA	1	42880409	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	2973475	42880409	206370212	41	11655											
TIE1	7075	broad.mit.edu	37	chr1	43772910	43772910	+	Frame_Shift_Del	DEL	C	C	-																															catgacggcgaatgtgtatgCccccctggcttcactggcac																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:43772910delC	ENST00000372476.3	+	5	817	c.738delC	c.(736-738)tgfs	p.C246fs	TIE1_ENST00000441333.2_Frame_Shift_Del_p.C246fs|TIE1_ENST00000433781.2_5'UTR|TIE1_ENST00000538015.1_Frame_Shift_Del_p.C246fs	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	246	EGF-like 1.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.P248fs*117(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AATGTGTATGCCCCCCTGGCT	0.632													28	86	---	---	---	---						-	43772910	C	-	43772910	7	5	242	1	0	1	0	1	0	0	0	0	15953	747	26	0	756	0	TIE1	1	43772910	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	892501	43772910	205477711	42	11656											
KDM4A	9682	broad.mit.edu	37	chr1	44156708	44156708	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcaagaagtgcagcgtcCgggtccatgccagtgagtgc	8	7	14	12	2	0	2	0	1	0	1	2	2	2	2	4	1	5	2	4	1	2	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:44156708C>T	ENST00000372396.3	+	14	2364	c.2230C>T	c.(2230-2232)Cgg>Tgg	p.R744W		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	744					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						GTGCAGCGTCCGGGTCCATGC	0.567													56	136					0	0	1	0	0	T	44156708	C	T	44156708	3	4	242	1	0	0	0	0	1	0	0	0	8172	643	23	1	2280	1	KDM4A	1	44156708	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	383798	44156708	205093913	43	11657											
PLK3	1263	broad.mit.edu	37	chr1	45270998	45270998	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccgcccttgctgctgcagTgggtcaagacggatcaggct	6	9	13	13	2	2	1	2	0	0	1	3	2	3	2	2	3	3	4	2	3	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:45270998T>C	ENST00000372201.4	+	14	1935	c.1696T>C	c.(1696-1698)Tgg>Cgg	p.W566R	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	566						membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					GCTGCTGCAGTGGGTCAAGAC	0.597													21	69					0	0	1	0	0	C	45270998	T	C	45270998	3	2	242	1	0	0	0	0	1	0	0	0	12145	1696	59	3	1750	3	PLK3	1	45270998	Missense_Mutation	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	1114290	45270998	203979623	44	11658											
PTCH2	8643	broad.mit.edu	37	chr1	45295123	45295123	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcactgacttcagagaacGcatgcaggatgtcatccagg	12	7	11	11	1	2	2	2	1	0	1	3	4	3	3	1	2	3	3	1	2	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:45295123G>A	ENST00000447098.2	-	9	1177	c.1166C>T	c.(1165-1167)gCg>gTg	p.A389V	PTCH2_ENST00000372192.3_Missense_Mutation_p.A389V	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	389					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					TTCAGAGAACGCATGCAGGAT	0.622									Basal Cell Nevus syndrome				49	103					0	0	1	0	0	A	45295123	G	A	45295123	3	1	242	1	0	0	0	0	1	0	0	0	12780	1087	38	1	2521	1	PTCH2	1	45295123	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	24125	45295123	203955498	45	11659											
PIK3R3	8503	broad.mit.edu	37	chr1	46543215	46543215	+	Frame_Shift_Del	DEL	T	T	-																															caaagtataatctccctgcaTttttgttgaggcatctcgga																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:46543215delT	ENST00000262741.5	-	3	975	c.286delA	c.(286-288)tgfs	p.M96fs	PIK3R3_ENST00000540385.1_Frame_Shift_Del_p.M142fs|PIK3R3_ENST00000354242.4_Frame_Shift_Del_p.M96fs|PIK3R3_ENST00000420542.1_Frame_Shift_Del_p.M96fs|PIK3R3_ENST00000372006.1_Frame_Shift_Del_p.M96fs|PIK3R3_ENST00000423209.1_Frame_Shift_Del_p.M96fs|PIK3R3_ENST00000340332.6_Frame_Shift_Del_p.M60fs	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	96	SH2 1.				insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)					TCTCCCTGCATTTTTGTTGAG	0.383													9	119	---	---	---	---						-	46543215	T	-	46543215	7	5	242	1	0	1	0	1	0	0	0	0	11968	1493	52	0	1131	0	PIK3R3	1	46543215	Frame_Shift_Del	DEL	T	TCGA-KK-A59V-01A-11D-A29Q-08	1248092	46543215	202707406	46	11660											
C1orf123	54987	broad.mit.edu	37	chr1	53681698	53681698	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtcactgaaggctgtccCtgactccacaccttcagcag	10	9	8	14	0	2	2	2	2	0	0	4	2	4	2	3	1	1	2	3	1	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:53681698C>T	ENST00000294360.4	-	7	411	c.370G>A	c.(370-372)Ggg>Agg	p.G124R	C1orf123_ENST00000470385.1_5'UTR	NM_017887.1	NP_060357.1	Q9NWV4	CA123_HUMAN	chromosome 1 open reading frame 123	124										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|pancreas(2)|skin(1)	6						AAGGCTGTCCCTGACTCCACA	0.517													39	107					0	0	1	0	0	T	53681698	C	T	53681698	3	4	242	1	0	0	0	0	1	0	0	0	2004	681	24	2	120	2	C1orf123	1	53681698	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	7138483	53681698	195568923	47	11661											
PPAP2B	8613	broad.mit.edu	37	chr1	56977736	56977736	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatacgcgagacagtcccGtgtagaaggccatcatgatc	11	8	11	11	3	1	4	1	2	0	2	3	5	2	4	2	1	1	1	2	1	3	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:56977736G>A	ENST00000371250.3	-	5	1273	c.722C>T	c.(721-723)aCg>aTg	p.T241M	PPAP2B_ENST00000459962.1_5'UTR	NM_003713.4	NP_003704.3	O14495	LPP3_HUMAN	phosphatidic acid phosphatase type 2B	241					canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process	adherens junction|Golgi apparatus|integral to membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						AGACAGTCCCGTGTAGAAGGC	0.577													25	69					0	0	1	0	0	A	56977736	G	A	56977736	3	1	242	1	0	0	0	0	1	0	0	0	12336	1145	40	1	221	1	PPAP2B	1	56977736	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	3296038	56977736	192272885	48	11662											
PRKAA2	5563	broad.mit.edu	37	chr1	57173319	57173319	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgtcttcagtttcacctcGcctgggcagtcacaccatgg	7	12	9	13	1	4	0	3	0	1	0	5	0	4	0	3	2	0	2	3	2	0	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:57173319G>A	ENST00000371244.4	+	9	1658	c.1592G>A	c.(1591-1593)cGc>cAc	p.R531H		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	531					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						GTTTCACCTCGCCTGGGCAGT	0.443													34	120					0	0	1	0	0	A	57173319	G	A	57173319	3	1	242	1	0	0	0	0	1	0	0	0	12546	1087	38	1	1626	1	PRKAA2	1	57173319	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	195583	57173319	192077302	49	11663											
UBE2U	148581	broad.mit.edu	37	chr1	64698334	64698334	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaatactacagaactccatgTaaggtgaactatccttatcc	14	11	6	10	0	0	2	0	1	0	1	3	3	3	2	3	1	4	1	3	1	8	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:64698334T>C	ENST00000371077.4	+	7	1019		c.e7+2		UBE2U_ENST00000371076.3_Splice_Site|UBE2U_ENST00000464349.1_Splice_Site			Q5VVX9	UBE2U_HUMAN	ubiquitin-conjugating enzyme E2U (putative)								ATP binding|protein binding|ubiquitin-protein ligase activity			large_intestine(3)|lung(2)|skin(1)	6						GAACTCCATGTAAGGTGAACT	0.338													7	26					0	0	1	0	0	C	64698334	T	C	64698334	5	2	242	1	0	0	0	0	0	0	1	0	16935	1652	57	3	623	3	UBE2U	1	64698334	Splice_Site	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	7525015	64698334	184552287	50	11664											
C1orf173	127254	broad.mit.edu	37	chr1	75038828	75038829	+	Frame_Shift_Ins	INS	-	-	C																															gcttgtcctatggggtctgaINSccccccttcacccagccttc																								rs145046312		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:75038828_75038829insC	ENST00000326665.5	-	14	2783_2784	c.2565_2566insG	c.(2563-2568)ggcagafs	p.R856fs	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	856	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						ATGGGGTCTGACCCCCCTTCAC	0.53													16	176	---	---	---	---						C	75038829	-	C	75038828	7	5	242	1	0	1	1	0	0	0	0	0	2027	275	10	0	2030	0	C1orf173	1	75038828	Frame_Shift_Ins	INS	-	TCGA-KK-A59V-01A-11D-A29Q-08	10340494	75038828	174211793	51	11665											
LPHN2	23266	broad.mit.edu	37	chr1	82408815	82408817	+	In_Frame_Del	DEL	CTT	CTT	-																															cgatactttaatagaatatgCttctttagaagatttccaaa																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:82408815_82408817delCTT	ENST00000370728.1	+	8	1205_1207	c.560_562delCTT	c.(559-564)gct>g	p.AS187del	LPHN2_ENST00000370725.1_In_Frame_Del_p.AS187del|LPHN2_ENST00000370727.1_In_Frame_Del_p.AS187del|LPHN2_ENST00000335786.5_In_Frame_Del_p.AS187del|LPHN2_ENST00000370715.1_In_Frame_Del_p.AS187del|LPHN2_ENST00000370713.1_In_Frame_Del_p.AS187del|LPHN2_ENST00000359929.3_In_Frame_Del_p.AS187del|LPHN2_ENST00000370717.2_In_Frame_Del_p.AS187del|LPHN2_ENST00000319517.6_In_Frame_Del_p.AS187del|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000271029.4_In_Frame_Del_p.AS187del|LPHN2_ENST00000370721.1_In_Frame_Del_p.AS191del|LPHN2_ENST00000394879.1_In_Frame_Del_p.AS187del|LPHN2_ENST00000370723.1_In_Frame_Del_p.AS187del|LPHN2_ENST00000370730.1_In_Frame_Del_p.AS187del			O95490	LPHN2_HUMAN	latrophilin 2	187	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		ATAGAATATGCTTCTTTAGAAGA	0.409													31	66	---	---	---	---						-	82408817	CTT	-	82408815	7	5	242	1	0	1	0	1	0	0	0	0	8961	797	28	0	574	0	LPHN2	1	82408815	In_Frame_Del	DEL	CTT	TCGA-KK-A59V-01A-11D-A29Q-08	7369987	82408815	166841806	52	11666											
MCOLN2	255231	broad.mit.edu	37	chr1	85431281	85431281	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgcaaacccagtttccacGgaatctggcgtctggctcgg	7	10	11	13	3	3	0	0	0	3	0	5	1	4	1	2	4	2	3	2	4	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:85431281G>A	ENST00000370608.3	-	2	255	c.188C>T	c.(187-189)cCg>cTg	p.P63L	MCOLN2_ENST00000284027.5_Missense_Mutation_p.P35L|MCOLN2_ENST00000531325.1_5'UTR	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2	63						integral to membrane	ion channel activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		CAGTTTCCACGGAATCTGGCG	0.413													19	35					0	0	1	0	0	A	85431281	G	A	85431281	3	1	242	1	0	0	0	0	1	0	0	0	9446	1116	39	1	1564	1	MCOLN2	1	85431281	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	3022466	85431281	163819340	53	11667											
WDR63	126820	broad.mit.edu	37	chr1	85589838	85589838	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccaccacaccattcacgaCggaactgtccacactattca	13	7	5	16	2	2	0	2	0	0	0	3	2	3	1	4	1	2	0	4	1	2	3	rs138281012	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:85589838C>T	ENST00000294664.6	+	19	2196	c.2016C>T	c.(2014-2016)gaC>gaT	p.D672D	WDR63_ENST00000326813.8_Silent_p.D633D|WDR63_ENST00000370596.1_Silent_p.D633D	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	672										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		CCATTCACGACGGAACTGTCC	0.443													30	74					0	0	1	0	0	T	85589838	C	T	85589838	2	4	242	1	0	0	0	0	0	0	0	1	17374	535	19	1		1	WDR63	1	85589838	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	158557	85589838	163660783	54	11668											
CLCA4	22802	broad.mit.edu	37	chr1	87041173	87041173	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccagcccaatgattgtttaCgcagaaattctacaaggata	14	10	7	10	1	1	2	0	1	1	1	1	3	1	3	2	1	3	2	2	1	6	6			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:87041173C>T	ENST00000370563.3	+	11	1884	c.1842C>T	c.(1840-1842)taC>taT	p.Y614Y	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	614						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		TGATTGTTTACGCAGAAATTC	0.398													30	93					0	0	1	0	0	T	87041173	C	T	87041173	2	4	242	1	0	0	0	0	0	0	0	1	3482	547	19	1		1	CLCA4	1	87041173	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1451335	87041173	162209448	55	11669											
LRRC8C	84230	broad.mit.edu	37	chr1	90180448	90180448	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccctcctgaactgggtgaCtgtcgggctctgaagcgagc	6	9	13	13	2	1	3	0	3	1	0	4	4	3	3	2	2	3	1	2	2	2	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:90180448C>T	ENST00000370454.4	+	3	2574	c.2319C>T	c.(2317-2319)gaC>gaT	p.D773D	RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron	NM_032270.4	NP_115646.2	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	773						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		AACTGGGTGACTGTCGGGCTC	0.413													17	61					0	0	1	0	0	T	90180448	C	T	90180448	2	4	242	1	0	0	0	0	0	0	0	1	9068	564	20	2		2	LRRC8C	1	90180448	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	3139275	90180448	159070173	56	11670											
LRRC8D	55144	broad.mit.edu	37	chr1	90400076	90400076	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatgctgtcgggggtgccCgatgctgtctttgacctcac	4	13	12	12	2	3	1	2	1	1	0	4	2	3	1	2	2	3	2	2	2	0	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:90400076C>T	ENST00000337338.5	+	3	1856	c.1449C>T	c.(1447-1449)ccC>ccT	p.P483P	LRRC8D_ENST00000394593.3_Silent_p.P483P	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	483						integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		CGGGGGTGCCCGATGCTGTCT	0.468													20	55					0	0	1	0	0	T	90400076	C	T	90400076	2	4	242	1	0	0	0	0	0	0	0	1	9069	639	23	1		1	LRRC8D	1	90400076	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	219628	90400076	158850545	57	11671											
ZNF644	84146	broad.mit.edu	37	chr1	91406185	91406185	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtacctgaggaaattccCgttactgtattgacacaatc	11	13	7	10	1	1	2	0	2	1	0	3	3	2	3	2	1	2	3	2	1	5	5	rs148356542	by1000genomes	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:91406185C>T	ENST00000370440.1	-	3	943	c.726G>A	c.(724-726)acG>acA	p.T242T	ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000337393.5_Silent_p.T242T			Q9H582	ZN644_HUMAN	zinc finger protein 644	242					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		AGGAAATTCCCGTTACTGTAT	0.368													12	159					0	0	1	0	0	T	91406185	C	T	91406185	2	4	242	1	0	0	0	0	0	0	0	1	18117	639	23	1		1	ZNF644	1	91406185	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1006109	91406185	157844436	58	11672											
EPHX4	253152	broad.mit.edu	37	chr1	92511122	92511122	+	Frame_Shift_Del	DEL	G	G	-																															tgttcttattggccatgactGggggggcatgattgcttggc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:92511122delG	ENST00000370383.4	+	4	607	c.509delG	c.(508-510)tgfs	p.W170fs		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	170						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(3)|lung(8)	12						GGCCATGACTGGGGGGGCATG	0.388													8	105	---	---	---	---						-	92511122	G	-	92511122	7	5	242	1	0	1	0	1	0	0	0	0	5210	1357	47	0	523	0	EPHX4	1	92511122	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	1104937	92511122	156739499	59	11673											
AMY2B	280	broad.mit.edu	37	chr1	104117870	104117870	+	Missense_Mutation	SNP	A	A	G																															ggggagaaggttggggtttcAtgccttctgacagagcactt																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:104117870A>G	ENST00000361355.4	+	8	1520	c.904A>G	c.(904-906)Atg>Gtg	p.M302V	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	302					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		TTGGGGTTTCATGCCTTCTGA	0.418													8	407					0	0	1	0	0	G	104117870	A	G	104117870	3	3	242	1	0	0	0	0	1	0	0	0	591	217	8	3	926	3	AMY2B	1	104117870	Missense_Mutation	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	11606748	104117870	145132751	60	11674	59	2									
AMY2B	280	broad.mit.edu	37	chr1	104117872	104117872	+	Missense_Mutation	SNP	G	G	A																															ggagaaggttggggtttcatGccttctgacagagcacttgt																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:104117872G>A	ENST00000361355.4	+	8	1522	c.906G>A	c.(904-906)atG>atA	p.M302I	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	302					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		GGGGTTTCATGCCTTCTGACA	0.418													8	405					0	0	1	0	0	A	104117872	G	A	104117872	3	1	242	1	0	0	0	0	1	0	0	0	591	1319	46	2	928	2	AMY2B	1	104117872	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	2	104117872	145132749	61	11675	59	2									
AMY2B	280	broad.mit.edu	37	chr1	104117887	104117887	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatgccttctgacagagcActtgtctttgtggataacca	9	14	8	10	0	3	2	1	1	2	1	3	3	3	3	2	1	3	1	2	1	1	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:104117887A>G	ENST00000361355.4	+	8	1537	c.921A>G	c.(919-921)gcA>gcG	p.A307A	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	307					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		CTGACAGAGCACTTGTCTTTG	0.413													9	390					0	0	1	0	0	G	104117887	A	G	104117887	2	3	242	1	0	0	0	0	0	0	0	1	591	146	6	3		3	AMY2B	1	104117887	Silent	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	15	104117887	145132734	62	11676											
FAM102B	284611	broad.mit.edu	37	chr1	109103056	109103058	+	In_Frame_Del	DEL	GAA	GAA	-																															cgcctggctctcacgatgatGaagaagaagaagtttaagtt																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:109103056_109103058delGAA	ENST00000370035.3	+	1	346_348	c.6_8delGAA	c.(4-9)atg>at	p.MK2del	FAM102B_ENST00000405454.1_In_Frame_Del_p.MK2del	NM_001010883.2	NP_001010883.2	Q5T8I3	F102B_HUMAN	family with sequence similarity 102, member B	2										autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	5		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)		TCACGATGATGAAGAAGAAGAAG	0.64													9	27	---	---	---	---						-	109103058	GAA	-	109103056	7	5	242	1	0	1	0	1	0	0	0	0	5414	1290	45	0	8	0	FAM102B	1	109103056	In_Frame_Del	DEL	GAA	TCGA-KK-A59V-01A-11D-A29Q-08	4985169	109103056	140147565	63	11677											
FAM102B	284611	broad.mit.edu	37	chr1	109177768	109177768	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaacaagttgtgatcaaacGctagaagtcaagtcggtgaa	15	9	11	6	2	2	4	2	3	0	1	3	4	2	4	0	1	2	2	0	1	7	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:109177768G>A	ENST00000370035.3	+	11	1419	c.1079G>A	c.(1078-1080)cGc>cAc	p.R360H	FAM102B_ENST00000405454.1_Intron	NM_001010883.2	NP_001010883.2	Q5T8I3	F102B_HUMAN	family with sequence similarity 102, member B	360										autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	5		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)		GTGATCAAACGCTAGAAGTCA	0.373													26	63					0	0	1	0	0	A	109177768	G	A	109177768	3	1	242	1	0	0	0	0	1	0	0	0	5414	1087	38	1	1121	1	FAM102B	1	109177768	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	74712	109177768	140072853	64	11678											
STXBP3	6814	broad.mit.edu	37	chr1	109336253	109336253	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaaaaagatgccccatttccGaaaacagattactaaggtaa	18	8	7	8	1	0	2	0	0	0	2	1	4	1	2	3	1	3	1	3	1	7	4	rs147446724		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:109336253G>A	ENST00000370008.3	+	12	1063	c.1013G>A	c.(1012-1014)cGa>cAa	p.R338Q		NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN	syntaxin binding protein 3	338					negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis	cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule	syntaxin-2 binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		CCCCATTTCCGAAAACAGATT	0.338													19	42					0	0	1	0	0	A	109336253	G	A	109336253	3	1	242	1	0	0	0	0	1	0	0	0	15410	1058	37	1	1059	1	STXBP3	1	109336253	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	158485	109336253	139914368	65	11679											
KCND3	3752	broad.mit.edu	37	chr1	112318870	112318870	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcagtttggtctcagtccGtcgtctgctttcaaattaag	7	16	9	9	2	3	0	2	0	2	0	6	0	4	0	1	1	2	3	1	1	2	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:112318870G>A	ENST00000369697.1	-	6	1809	c.1740C>T	c.(1738-1740)gaC>gaT	p.D580D	KCND3_ENST00000315987.2_Silent_p.D599D|KCND3_ENST00000302127.4_Silent_p.D580D			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	599						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		GTCTCAGTCCGTCGTCTGCTT	0.557													14	36					0	0	1	0	0	A	112318870	G	A	112318870	2	1	242	1	0	0	0	0	0	0	0	1	8064	1136	40	1		1	KCND3	1	112318870	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	2982617	112318870	136931751	66	11680											
WNT2B	7482	broad.mit.edu	37	chr1	113057604	113057604	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatcatgcgttcagtgggCgagggtgcccgagaatggat	9	8	16	8	3	2	1	2	0	0	1	2	5	2	2	1	3	2	1	1	3	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:113057604C>T	ENST00000369684.4	+	2	776	c.291C>T	c.(289-291)ggC>ggT	p.G97G	WNT2B_ENST00000478360.1_3'UTR|WNT2B_ENST00000369686.4_Silent_p.G78G|WNT2B_ENST00000256640.5_Silent_p.G5G	NM_024494.2	NP_078613.1	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family, member 2B	97					chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTTCAGTGGGCGAGGGTGCCC	0.622													20	61					0	0	1	0	0	T	113057604	C	T	113057604	2	4	242	1	0	0	0	0	0	0	0	1	17447	755	27	1		1	WNT2B	1	113057604	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	738734	113057604	136193017	67	11681											
MAGI3	260425	broad.mit.edu	37	chr1	114226149	114226149	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgaagaatagcaggctataCgggcagtaatgctgagcaga	14	7	13	7	2	0	3	0	1	0	2	1	4	0	3	0	2	4	6	0	2	6	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:114226149C>T	ENST00000307546.9	+	21	4034	c.3959C>T	c.(3958-3960)aCg>aTg	p.T1320M	MAGI3_ENST00000369615.1_3'UTR	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	1345					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCAGGCTATACGGGCAGTAAT	0.438													35	88					0	0	1	0	0	T	114226149	C	T	114226149	3	4	242	1	0	0	0	0	1	0	0	0	9242	536	19	1	4095	1	MAGI3	1	114226149	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1168545	114226149	135024472	68	11682											
CD160	11126	broad.mit.edu	37	chr1	145699022	145699022	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggaagcctgaactgagagTgccttcattatggctgaact	11	11	11	8	0	1	3	1	3	0	1	1	5	1	4	2	2	4	1	2	2	5	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:145699022T>C	ENST00000369290.1	-	3	299	c.142A>G	c.(142-144)Act>Gct	p.T48A	CD160_ENST00000401557.3_Missense_Mutation_p.T157A|CD160_ENST00000369288.2_Missense_Mutation_p.T157A|CD160_ENST00000235933.6_Missense_Mutation_p.T157A			O95971	BY55_HUMAN	CD160 molecule	157	Ig-like V-type.				cell proliferation|cell surface receptor linked signaling pathway|cellular defense response|regulation of immune response	anchored to plasma membrane	MHC class I receptor activity|receptor binding			endometrium(3)|large_intestine(2)|lung(2)	7	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			GAACTGAGAGTGCCTTCATTA	0.488													5	70					0	0	1	0	0	C	145699022	T	C	145699022	3	2	242	1	0	0	0	0	1	0	0	0	2988	1696	59	3	84	3	CD160	1	145699022	Missense_Mutation	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	31472873	145699022	103551599	69	11683											
GJA8	2703	broad.mit.edu	37	chr1	147380399	147380399	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtccgcatggaggagaagcGcaaaagccgcgaggcggagg	11	2	18	10	6	0	1	0	0	0	1	1	5	1	3	2	5	2	2	2	5	3	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:147380399G>A	ENST00000240986.4	+	2	370	c.317G>A	c.(316-318)cGc>cAc	p.R106H	GJA8_ENST00000369235.1_Missense_Mutation_p.R106H	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	106					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GAGGAGAAGCGCAAAAGCCGC	0.652													33	70					0	0	1	0	0	A	147380399	G	A	147380399	3	1	242	1	0	0	0	0	1	0	0	0	6447	1087	38	1	319	1	GJA8	1	147380399	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1681377	147380399	101870222	70	11684											
HIST2H2BE	8349	broad.mit.edu	37	chr1	149857821	149857821	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagggactcacttggagcTggtgtacttggtgaccgcct	6	10	15	10	1	1	1	1	1	0	0	1	3	1	3	2	5	2	3	2	5	1	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:149857821T>C	ENST00000369155.2	-	1	411	c.370A>G	c.(370-372)Agc>Ggc	p.S124G		NM_003528.2	NP_003519.1	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	124					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CACTTGGAGCTGGTGTACTTG	0.657													19	71					0	0	1	0	0	C	149857821	T	C	149857821	3	2	242	1	0	0	0	0	1	0	0	0	7220	1580	55	3	14	3	HIST2H2BE	1	149857821	Missense_Mutation	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	2477422	149857821	99392800	71	11685											
RPRD2	23248	broad.mit.edu	37	chr1	150444464	150444464	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgaatttaagaatatgcttAaaaacgcctcacgtaagccc	15	11	6	9	2	1	2	1	1	0	1	1	2	1	2	2	0	3	2	2	0	8	6			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:150444464A>T	ENST00000401000.4	+	10	3027	c.2962A>T	c.(2962-2964)Aaa>Taa	p.K988*	RPRD2_ENST00000539519.1_3'UTR|RPRD2_ENST00000369068.4_Nonsense_Mutation_p.K1014*|RPRD2_ENST00000492220.1_3'UTR			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	1014							protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GAATATGCTTAAAAACGCCTC	0.542													15	361					0	0	1	0	0	T	150444464	A	T	150444464	4	4	242	1	0	0	0	0	0	1	0	0	13669	363	13	5	3082	5	RPRD2	1	150444464	Nonsense_Mutation	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	586643	150444464	98806157	72	11686											
GOLPH3L	55204	broad.mit.edu	37	chr1	150636167	150636167	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttccagatagattcgaccccGcatggccagctctatcagga	10	9	9	13	2	2	2	1	0	1	2	4	4	3	3	4	2	1	2	4	2	2	4	rs149790730		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:150636167G>A	ENST00000271732.3	-	3	300	c.256C>T	c.(256-258)Cgg>Tgg	p.R86W	GOLPH3L_ENST00000540514.1_Intron	NM_018178.5	NP_060648.2	Q9H4A5	GLP3L_HUMAN	golgi phosphoprotein 3-like	86						Golgi cisterna membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			ATTCGACCCCGCATGGCCAGC	0.507													6	92					0	0	1	0	0	A	150636167	G	A	150636167	3	1	242	1	0	0	0	0	1	0	0	0	6608	1086	38	1	613	1	GOLPH3L	1	150636167	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	191703	150636167	98614454	73	11687											
HORMAD1	84072	broad.mit.edu	37	chr1	150689638	150689638	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagatatcttgttccataagCgcattctgggaatattcccc	10	14	7	10	1	2	1	0	0	2	1	4	2	4	2	3	1	1	2	3	1	5	8			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:150689638C>T	ENST00000368993.2	-	3	259	c.154G>A	c.(154-156)Gct>Act	p.A52T	HORMAD1_ENST00000322343.7_Missense_Mutation_p.A52T|HORMAD1_ENST00000368995.4_Missense_Mutation_p.R2H|HORMAD1_ENST00000476530.1_5'UTR|HORMAD1_ENST00000361824.2_Missense_Mutation_p.A52T			Q86X24	HORM1_HUMAN	HORMA domain containing 1	52	HORMA.				blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			GTTCCATAAGCGCATTCTGGG	0.318													5	98					0	0	1	0	0	T	150689638	C	T	150689638	3	4	242	1	0	0	0	0	1	0	0	0	7327	768	27	1	1082	1	HORMAD1	1	150689638	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	53471	150689638	98560983	74	11688											
ARNT	0	broad.mit.edu	37	chr1	150790487	150790487	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgttggagagtgtaggccGtggttcttggctagagttcc	5	14	16	6	1	1	2	0	0	1	2	2	3	2	2	2	4	0	5	2	4	2	6	rs143491065		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:150790487G>A	ENST00000358595.5	-	15	1614	c.1414C>T	c.(1414-1416)Cgg>Tgg	p.R472W	ARNT_ENST00000354396.2_Missense_Mutation_p.R472W|ARNT_ENST00000515192.1_Missense_Mutation_p.R458W|ARNT_ENST00000505755.1_Missense_Mutation_p.R457W	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	472					positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGTGTAGGCCGTGGTTCTTGG	0.517			T	ETV6	AML								7	16					0	0	1	0	0	A	150790487	G	A	150790487	3	1	242	1	0	0	0	0	1	0	0	0	964	1144	40	1	987	1	ARNT	1	150790487	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	100849	150790487	98460134	75	11689											
SEMA6C	10500	broad.mit.edu	37	chr1	151105902	151105902	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaggccagagactgaggcGcccagggcaaaagctgcggc	11	2	17	11	2	0	2	0	1	0	1	0	4	0	3	2	5	2	2	2	5	2	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:151105902G>A	ENST00000341697.3	-	19	3542	c.1851C>T	c.(1849-1851)ggC>ggT	p.G617G				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	617						integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGACTGAGGCGCCCAGGGCAA	0.731													5	7					0	0	1	0	0	A	151105902	G	A	151105902	2	1	242	1	0	0	0	0	0	0	0	1	14095	1074	38	1		1	SEMA6C	1	151105902	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	315415	151105902	98144719	76	11690											
SELENBP1	8991	broad.mit.edu	37	chr1	151340694	151340694	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttgccattgcccttgacGtctcccagggagctgatcat	6	12	9	14	1	2	2	1	2	1	0	3	3	2	3	4	1	3	1	4	1	0	3	rs141632271		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:151340694G>A	ENST00000435071.1	-	5	732	c.270C>T	c.(268-270)gaC>gaT	p.D90D	SELENBP1_ENST00000473693.1_5'UTR|SELENBP1_ENST00000368868.5_Silent_p.D154D|SELENBP1_ENST00000447402.3_Silent_p.D92D|SELENBP1_ENST00000426705.2_Silent_p.D196D			Q13228	SBP1_HUMAN	selenium binding protein 1	154					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGCCCTTGACGTCTCCCAGGG	0.542													74	188					0	0	1	0	0	A	151340694	G	A	151340694	2	1	242	1	0	0	0	0	0	0	0	1	14068	1136	40	1		1	SELENBP1	1	151340694	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	234792	151340694	97909927	77	11691											
POGZ	23126	broad.mit.edu	37	chr1	151400737	151400737	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggactgggactgtgggaCggtgcttcgaatggtaagag	8	9	18	6	2	0	1	0	0	0	1	1	5	0	4	0	5	1	2	0	5	2	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:151400737C>T	ENST00000271715.2	-	6	1035	c.721G>A	c.(721-723)Gtc>Atc	p.V241I	POGZ_ENST00000361398.3_Missense_Mutation_p.V188I|POGZ_ENST00000531094.1_Missense_Mutation_p.V188I|POGZ_ENST00000540984.1_Intron|POGZ_ENST00000491586.1_Missense_Mutation_p.V188I|POGZ_ENST00000409503.1_Missense_Mutation_p.V241I|POGZ_ENST00000392723.1_Missense_Mutation_p.V188I|POGZ_ENST00000368863.2_Missense_Mutation_p.V146I	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	241					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GACTGTGGGACGGTGCTTCGA	0.602													12	169					0	0	1	0	0	T	151400737	C	T	151400737	3	4	242	1	0	0	0	0	1	0	0	0	12234	536	19	1	3581	1	POGZ	1	151400737	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	60043	151400737	97849884	78	11692											
CGN	57530	broad.mit.edu	37	chr1	151503052	151503052	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagcgggcactggaggcaCgcctagaggaggctcagcgg	9	3	17	12	3	1	1	1	0	0	1	1	3	1	3	2	6	2	3	2	6	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:151503052C>T	ENST00000271636.7	+	13	2534	c.2401C>T	c.(2401-2403)Cgc>Tgc	p.R801C		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	795	Glu-rich.					myosin complex|tight junction	actin binding|motor activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			ACTGGAGGCACGCCTAGAGGA	0.687													4	39					0	0	1	0	0	T	151503052	C	T	151503052	3	4	242	1	0	0	0	0	1	0	0	0	3325	536	19	1	2447	1	CGN	1	151503052	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	102315	151503052	97747569	79	11693											
TUFT1	7286	broad.mit.edu	37	chr1	151553473	151553473	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agaaaaacaaatcagtcatgGcaacttcagcacccaggccc	16	5	7	13	0	3	1	3	0	0	1	3	1	3	1	2	2	3	2	2	2	4	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:151553473G>A	ENST00000368849.3	+	12	1126	c.1064G>A	c.(1063-1065)gGc>gAc	p.G355D	TUFT1_ENST00000353024.3_Missense_Mutation_p.G296D|TUFT1_ENST00000538902.1_Missense_Mutation_p.G374D|TUFT1_ENST00000392712.3_Missense_Mutation_p.G300D|TUFT1_ENST00000368848.2_Missense_Mutation_p.G330D	NM_020127.2	NP_064512.1	Q9NNX1	TUFT1_HUMAN	tuftelin 1	355					bone mineralization|odontogenesis	cytoplasm|extracellular region	structural constituent of tooth enamel			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			ATCAGTCATGGCAACTTCAGC	0.527													26	48					0	0	1	0	0	A	151553473	G	A	151553473	3	1	242	1	0	0	0	0	1	0	0	0	16834	1203	42	2	1110	2	TUFT1	1	151553473	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	50421	151553473	97697148	80	11694											
RPTN	126638	broad.mit.edu	37	chr1	152127348	152127348	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatgggtttgtctgtctcGtctctgatggttctgctcat	3	19	10	9	1	6	1	2	1	4	0	8	1	6	1	0	2	1	3	0	2	0	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:152127348G>A	ENST00000316073.3	-	3	2291	c.2227C>T	c.(2227-2229)Cga>Tga	p.R743*		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	743	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TGTCTGTCTCGTCTCTGATGG	0.522													6	401					0	0	1	0	0	A	152127348	G	A	152127348	4	1	242	1	0	0	0	0	0	1	0	0	13716	1153	40	1	131	1	RPTN	1	152127348	Nonsense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	573875	152127348	97123273	81	11695											
HRNR	388697	broad.mit.edu	37	chr1	152192622	152192622	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactgtcctgacctagagcCgtgttgtccgtggccggagg	5	10	15	11	3	0	3	0	2	0	1	2	4	2	4	5	3	1	1	5	3	1	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:152192622C>T	ENST00000368801.2	-	3	1558	c.1483G>A	c.(1483-1485)Ggc>Agc	p.G495S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	495					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACCTAGAGCCGTGTTGTCCG	0.542													5	416					0	0	1	0	0	T	152192622	C	T	152192622	3	4	242	1	0	0	0	0	1	0	0	0	7400	652	23	1	7073	1	HRNR	1	152192622	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	65274	152192622	97057999	82	11696											
FLG	2312	broad.mit.edu	37	chr1	152278093	152278093	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcttgtgcctgctcatggCgggatccttgtcttcctcta	3	16	10	12	1	4	0	1	0	3	0	6	1	6	1	3	2	2	1	3	2	1	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:152278093C>T	ENST00000368799.1	-	3	9304	c.9269G>A	c.(9268-9270)cGc>cAc	p.R3090H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3090	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGCTCATGGCGGGATCCTTG	0.582									Ichthyosis				114	235					0	0	1	0	0	T	152278093	C	T	152278093	3	4	242	1	0	0	0	0	1	0	0	0	5955	768	27	1	2920	1	FLG	1	152278093	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	85471	152278093	96972528	83	11697											
DENND4B	9909	broad.mit.edu	37	chr1	153913419	153913419	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acgctggtgagcaggtctggCcgcagcgagtggactagcag	8	6	17	10	3	1	1	0	1	1	0	1	3	1	2	1	4	3	4	1	4	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:153913419C>T	ENST00000361217.4	-	9	1705	c.1287G>A	c.(1285-1287)cgG>cgA	p.R429R		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	429	DENN.									NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCAGGTCTGGCCGCAGCGAGT	0.637													7	15					0	0	1	0	0	T	153913419	C	T	153913419	2	4	242	1	0	0	0	0	0	0	0	1	4462	726	26	2		2	DENND4B	1	153913419	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1635326	153913419	95337202	84	11698											
NUP210L	91181	broad.mit.edu	37	chr1	154030638	154030638	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtatttattttggaatgggcGtttggaagagccaagaaccc	11	12	12	6	1	0	2	0	0	0	2	0	4	0	4	2	3	2	2	2	3	6	6			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:154030638G>A	ENST00000368559.3	-	22	3105	c.3034C>T	c.(3034-3036)Cgc>Tgc	p.R1012C	NUP210L_ENST00000271854.3_Missense_Mutation_p.R1012C	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1012						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TGGAATGGGCGTTTGGAAGAG	0.393													40	89					0	0	1	0	0	A	154030638	G	A	154030638	3	1	242	1	0	0	0	0	1	0	0	0	10809	1145	40	1	2708	1	NUP210L	1	154030638	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	117219	154030638	95219983	85	11699											
ATP8B2	57198	broad.mit.edu	37	chr1	154321480	154321480	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgcggctgagctctctcgcGctctccagcttcaccacccg	5	9	9	18	4	3	1	1	1	2	0	6	1	3	1	3	1	3	4	3	1	0	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:154321480G>A	ENST00000368489.3	+	28	3558	c.3558G>A	c.(3556-3558)gcG>gcA	p.A1186A		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	1172					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GCTCTCTCGCGCTCTCCAGCT	0.642													16	41					0	0	1	0	0	A	154321480	G	A	154321480	2	1	242	1	0	0	0	0	0	0	0	1	1193	1074	38	1		1	ATP8B2	1	154321480	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	290842	154321480	94929141	86	11700											
RIT1	6016	broad.mit.edu	37	chr1	155874275	155874275	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccctcatatactggtcccGcatggctgtaaactctgcct	7	12	8	14	1	2	0	1	0	1	0	3	0	3	0	3	2	4	3	3	2	4	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:155874275G>A	ENST00000368323.3	-	5	460	c.256C>T	c.(256-258)Cgg>Tgg	p.R86W	RIT1_ENST00000368322.3_Missense_Mutation_p.R103W|RIT1_ENST00000539040.1_Missense_Mutation_p.R50W|RIT1_ENST00000461050.1_5'UTR	NM_006912.5	NP_008843.1	Q92963	RIT1_HUMAN	Ras-like without CAAX 1	86					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)			TACTGGTCCCGCATGGCTGTA	0.413													4	40					0	0	1	0	0	A	155874275	G	A	155874275	3	1	242	1	0	0	0	0	1	0	0	0	13438	1086	38	1	411	1	RIT1	1	155874275	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1552795	155874275	93376346	87	11701											
ARHGEF2	9181	broad.mit.edu	37	chr1	155920810	155920810	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgctcactctcccggagcCgggcctccaggctgccagct	4	7	11	19	2	2	0	1	0	1	0	4	1	3	1	6	3	4	3	6	3	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:155920810C>T	ENST00000368316.1	-	24	2899	c.2429G>A	c.(2428-2430)cGg>cAg	p.R810Q	ARHGEF2_ENST00000313667.4_Missense_Mutation_p.R837Q|ARHGEF2_ENST00000368315.3_Missense_Mutation_p.R839Q|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.R810Q|ARHGEF2_ENST00000361247.4_Missense_Mutation_p.R838Q			Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	838					actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CTCCCGGAGCCGGGCCTCCAG	0.697													15	25					0	0	1	0	0	T	155920810	C	T	155920810	3	4	242	1	0	0	0	0	1	0	0	0	900	652	23	1	459	1	ARHGEF2	1	155920810	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	46535	155920810	93329811	88	11702											
CRABP2	1382	broad.mit.edu	37	chr1	156670351	156670351	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taccaggatcagttccccatCgttggtcagttctctggtcc	6	13	9	13	1	3	0	2	0	1	0	7	1	5	1	4	3	1	3	4	3	1	4	rs146571038	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:156670351C>T	ENST00000368222.3	-	3	503	c.349G>A	c.(349-351)Gat>Aat	p.D117N	CRABP2_ENST00000368221.1_Missense_Mutation_p.D117N	NM_001199723.1|NM_001878.3	NP_001186652.1|NP_001869.1	P29373	RABP2_HUMAN	cellular retinoic acid binding protein 2	117					epidermis development|regulation of transcription, DNA-dependent|signal transduction	cytoplasm|nucleus	retinal binding|retinol binding|transporter activity			endometrium(2)|lung(3)|upper_aerodigestive_tract(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)				Alitretinoin(DB00523)	AGTTCCCCATCGTTGGTCAGT	0.547													4	69					0	0	1	0	0	T	156670351	C	T	156670351	3	4	242	1	0	0	0	0	1	0	0	0	3867	884	31	1	75	1	CRABP2	1	156670351	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	749541	156670351	92580270	89	11703											
ARHGEF11	9826	broad.mit.edu	37	chr1	156917732	156917733	+	Frame_Shift_Ins	INS	-	-	G																															tctgtgcagaaccccaaactINSgggggactcaatgctcctgg																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:156917732_156917733insG	ENST00000368194.3	-	25	3208_3209	c.2169_2170insC	c.(2167-2172)ccgtttfs	p.F724fs	ARHGEF11_ENST00000315174.8_Frame_Shift_Ins_p.F100fs|ARHGEF11_ENST00000361409.2_Frame_Shift_Ins_p.F684fs	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	684					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AACCCCAAACTGGGGGACTCAA	0.574													14	30	---	---	---	---						G	156917733	-	G	156917732	7	5	242	1	0	1	1	0	0	0	0	0	893	1580	55	0	2586	0	ARHGEF11	1	156917732	Frame_Shift_Ins	INS	-	TCGA-KK-A59V-01A-11D-A29Q-08	247381	156917732	92332889	90	11704											
CADM3	57863	broad.mit.edu	37	chr1	159170689	159170689	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgggcagtcaggaggggacGacaagaaggaatatttcatc	13	6	15	7	2	2	1	2	0	0	1	3	5	2	4	0	5	0	1	0	5	4	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:159170689G>A	ENST00000368125.4	+	9	1331	c.1174G>A	c.(1174-1176)Gac>Aac	p.D392N	CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000368124.4_Missense_Mutation_p.D426N|CADM3_ENST00000497636.1_3'UTR	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	392					adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					AGGAGGGGACGACAAGAAGGA	0.612													18	79					0	0	1	0	0	A	159170689	G	A	159170689	3	1	242	1	0	0	0	0	1	0	0	0	2586	1058	37	1	1314	1	CADM3	1	159170689	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	2252957	159170689	90079932	91	11705											
SLAMF8	56833	broad.mit.edu	37	chr1	159799839	159799839	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagactctgtaccattcccGcttcctgggccgagcccagc	6	8	11	16	2	1	1	0	0	1	1	3	3	3	1	5	2	3	2	5	2	1	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:159799839G>A	ENST00000289707.5	+	2	373	c.224G>A	c.(223-225)cGc>cAc	p.R75H	SLAMF8_ENST00000471286.1_3'UTR|SLAMF8_ENST00000368104.4_Intron	NM_020125.2	NP_064510.1	Q9P0V8	SLAF8_HUMAN	SLAM family member 8	75						integral to membrane				endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					TACCATTCCCGCTTCCTGGGC	0.607													15	217					0	0	1	0	0	A	159799839	G	A	159799839	3	1	242	1	0	0	0	0	1	0	0	0	14425	1087	38	1	230	1	SLAMF8	1	159799839	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	629150	159799839	89450782	92	11706											
LRRC52	440699	broad.mit.edu	37	chr1	165514022	165514022	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagaaataccggcttgcaGaccctggacagtgctgcctt	9	9	10	13	1	1	2	1	0	0	2	1	3	1	3	3	2	4	3	3	2	2	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:165514022G>T	ENST00000294818.1	+	1	779	c.489G>T	c.(487-489)caG>caT	p.Q163H	RP11-280O1.2_ENST00000416424.1_RNA|RP11-280O1.2_ENST00000438275.1_RNA|RP11-280O1.2_ENST00000421273.1_RNA	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52	163						integral to membrane				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					CCGGCTTGCAGACCCTGGACA	0.517													6	185					0.00116845	0.00118598	1	1	0	T	165514022	G	T	165514022	3	4	242	1	0	0	0	0	1	0	0	0	9055	933	33	4	491	4	LRRC52	1	165514022	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	5714183	165514022	83736599	93	11707											
TBX19	9095	broad.mit.edu	37	chr1	168282117	168282117	+	Frame_Shift_Del	DEL	G	G	-																															tcggctggtgtggaggttctGggggagccctcgctaaccag																								rs149058755		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:168282117delG	ENST00000367821.3	+	8	1275	c.1224delG	c.(1222-1224)ctfs	p.L408fs	TBX19_ENST00000465440.1_3'UTR	NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	408					anatomical structure morphogenesis	nucleus	DNA binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					TGGAGGTTCTGGGGGAGCCCT	0.642													20	52	---	---	---	---						-	168282117	G	-	168282117	7	5	242	1	0	1	0	1	0	0	0	0	15714	1335	47	0	1254	0	TBX19	1	168282117	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	2768095	168282117	80968504	94	11708											
DARS2	55157	broad.mit.edu	37	chr1	173822937	173822937	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgtgaatcttctaggcccGtagccaacactatgacttgg	9	12	9	11	1	3	2	0	2	3	0	3	2	3	2	2	2	2	1	2	2	5	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:173822937G>A	ENST00000361951.4	+	15	2295	c.1568G>A	c.(1567-1569)cGt>cAt	p.R523H	DARS2_ENST00000471476.1_Intron|DARS2_ENST00000239457.5_Intron	NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial	523					tRNA aminoacylation for protein translation	mitochondrial matrix|nucleus	aspartate-tRNA ligase activity|ATP binding|nucleic acid binding			breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30					L-Aspartic Acid(DB00128)	TTCTAGGCCCGTAGCCAACAC	0.388													24	66					0	0	1	0	0	A	173822937	G	A	173822937	3	1	242	1	0	0	0	0	1	0	0	0	4266	1145	40	1	1626	1	DARS2	1	173822937	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	5540820	173822937	75427684	95	11709											
KIAA1614	57710	broad.mit.edu	37	chr1	180914516	180914516	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggctcgcaccgtgggccGcctggtggaggtgttcccag	3	8	16	14	3	0	0	0	0	0	0	2	1	1	1	5	5	0	3	5	5	0	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:180914516G>A	ENST00000367588.4	+	9	3420	c.3365G>A	c.(3364-3366)cGc>cAc	p.R1122H	RP11-46A10.5_ENST00000358073.2_RNA|KIAA1614_ENST00000461346.1_3'UTR|KIAA1614_ENST00000367587.1_Missense_Mutation_p.R743H	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	1122										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						ACCGTGGGCCGCCTGGTGGAG	0.692													20	54					0	0	1	0	0	A	180914516	G	A	180914516	3	1	242	1	0	0	0	0	1	0	0	0	8290	1087	38	1	3399	1	KIAA1614	1	180914516	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	7091579	180914516	68336105	96	11710											
SMG7	9887	broad.mit.edu	37	chr1	183511408	183511408	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatttaagcaacaactgtgAcacaggagagaagccagtgg	17	6	11	7	0	0	2	0	1	0	1	0	4	0	3	1	2	4	1	1	2	5	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:183511408A>G	ENST00000367537.3	+	15	1895	c.1700A>G	c.(1699-1701)gAc>gGc	p.D567G	SMG7_ENST00000456731.2_Missense_Mutation_p.D496G|SMG7_ENST00000347615.2_Missense_Mutation_p.D538G|SMG7_ENST00000515829.2_Missense_Mutation_p.D538G|SMG7_ENST00000507469.1_Missense_Mutation_p.D538G|SMG7_ENST00000508461.1_Missense_Mutation_p.D496G			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	538					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						AACAACTGTGACACAGGAGAG	0.453													56	122					0	0	1	0	0	G	183511408	A	G	183511408	3	3	242	1	0	0	0	0	1	0	0	0	14852	275	10	3	1667	3	SMG7	1	183511408	Missense_Mutation	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	2596892	183511408	65739213	97	11711											
ARPC5	10092	broad.mit.edu	37	chr1	183602245	183602245	+	Frame_Shift_Del	DEL	G	G	-																															cctgactcttggtgttgataGgggggttcttcagagctgcc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:183602245delG	ENST00000359856.6	-	2	254	c.188delC	c.(187-189)ctfs	p.P63fs	ARPC5_ENST00000294742.6_Frame_Shift_Del_p.P66fs|ARPC5_ENST00000462965.1_5'UTR|ARPC5_ENST00000367534.1_Frame_Shift_Del_p.P63fs	NM_005717.3	NP_005708.1	O15511	ARPC5_HUMAN	actin related protein 2/3 complex, subunit 5, 16kDa	63					actin cytoskeleton organization|cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cell projection|cytoplasm	actin binding|structural constituent of cytoskeleton			cervix(1)|large_intestine(1)|lung(2)	4						GGTGTTGATAGGGGGGTTCTT	0.468													51	187	---	---	---	---						-	183602245	G	-	183602245	7	5	242	1	0	1	0	1	0	0	0	0	973	1000	35	0	279	0	ARPC5	1	183602245	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	90837	183602245	65648376	98	11712											
CRB1	23418	broad.mit.edu	37	chr1	197398616	197398616	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggaggtgtttgccattcccGgtgggatgacttctcctgtt	4	15	13	9	1	1	1	0	1	1	0	3	3	2	3	3	4	1	2	3	4	0	4	rs114052315	by1000genomes	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:197398616G>A	ENST00000367397.1	+	4	1715	c.857G>A	c.(856-858)cGg>cAg	p.R286Q	CRB1_ENST00000535699.1_Missense_Mutation_p.R881Q|CRB1_ENST00000367399.2_Missense_Mutation_p.R793Q|CRB1_ENST00000544212.1_Missense_Mutation_p.R386Q|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367400.3_Missense_Mutation_p.R905Q			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	905	EGF-like 7; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TGCCATTCCCGGTGGGATGAC	0.507													43	100					0	0	1	0	0	A	197398616	G	A	197398616	3	1	242	1	0	0	0	0	1	0	0	0	3871	1116	39	1	2744	1	CRB1	1	197398616	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	13796371	197398616	51852005	99	11713											
NAV1	89796	broad.mit.edu	37	chr1	201618018	201618018	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aagtccggcagcgtggacagCcgtgtccccggcgggccgcc	5	4	16	16	6	0	0	0	0	0	0	2	1	2	1	6	4	2	1	6	4	1	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:201618018C>T	ENST00000367296.4	+	1	642	c.222C>T	c.(220-222)agC>agT	p.S74S	NAV1_ENST00000367302.1_Silent_p.S87S|NAV1_ENST00000367297.4_Silent_p.S74S|NAV1_ENST00000367300.3_Silent_p.S74S|NAV1_ENST00000295624.6_Silent_p.S74S	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	74					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						GCGTGGACAGCCGTGTCCCCG	0.667													16	54					0	0	1	0	0	T	201618018	C	T	201618018	2	4	242	1	0	0	0	0	0	0	0	1	10231	738	26	2		2	NAV1	1	201618018	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	4219402	201618018	47632603	100	11714											
KDM5B	10765	broad.mit.edu	37	chr1	202698198	202698198	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgcgtccttcacagtacagCgcacacagatgtagtcttct	9	11	9	12	2	3	1	1	0	2	1	4	1	4	1	1	0	3	3	1	0	2	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:202698198C>T	ENST00000367265.3	-	27	5765	c.4601G>A	c.(4600-4602)cGc>cAc	p.R1534H	KDM5B_ENST00000367264.2_Missense_Mutation_p.R1570H	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1534					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CACAGTACAGCGCACACAGAT	0.473													28	68					0	0	1	0	0	T	202698198	C	T	202698198	3	4	242	1	0	0	0	0	1	0	0	0	8177	768	27	1	37	1	KDM5B	1	202698198	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1080180	202698198	46552423	101	11715											
LRRN2	10446	broad.mit.edu	37	chr1	204588019	204588019	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcacagcggatggggttgcCgtggagacctacctcctgca	7	8	14	12	2	1	1	1	0	0	1	2	3	2	2	4	4	4	2	4	4	1	2	rs149220897		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:204588019C>T	ENST00000367175.1	-	1	3314	c.1102G>A	c.(1102-1104)Ggc>Agc	p.G368S	LRRN2_ENST00000367177.3_Missense_Mutation_p.G368S|LRRN2_ENST00000367176.3_Missense_Mutation_p.G368S			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	368					cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			ATGGGGTTGCCGTGGAGACCT	0.637													27	65					0	0	1	0	0	T	204588019	C	T	204588019	3	4	242	1	0	0	0	0	1	0	0	0	9080	652	23	1	1043	1	LRRN2	1	204588019	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1889821	204588019	44662602	102	11716											
TMCC2	9911	broad.mit.edu	37	chr1	205210851	205210851	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtccctgcacgacctgccCgcccggcccaccgccttcaa	6	6	8	21	4	1	0	1	0	0	0	2	1	2	0	7	1	2	1	7	1	1	1	rs140397839		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:205210851C>T	ENST00000358024.3	+	2	815	c.426C>T	c.(424-426)ccC>ccT	p.P142P	TMCC2_ENST00000545499.1_Silent_p.P64P|TMCC2_ENST00000495538.1_3'UTR	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	142						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			ACGACCTGCCCGCCCGGCCCA	0.682													9	34					0	0	1	0	0	T	205210851	C	T	205210851	2	4	242	1	0	0	0	0	0	0	0	1	16053	639	23	1		1	TMCC2	1	205210851	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	622832	205210851	44039770	103	11717											
CDK18	5129	broad.mit.edu	37	chr1	205498652	205498652	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgccttctccttgcaggttGgatacggatggcatccacct	6	11	11	13	2	1	0	0	0	1	0	3	2	2	2	4	4	2	3	4	4	1	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:205498652G>A	ENST00000360066.2	+	13	1483	c.1182G>A	c.(1180-1182)ttG>ttA	p.L394L	CDK18_ENST00000429964.2_Silent_p.L394L|CDK18_ENST00000509056.1_3'UTR|CDK18_ENST00000506784.1_Silent_p.L424L	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	392	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity	p.L394L(1)|p.L424L(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						CTTGCAGGTTGGATACGGATG	0.697											OREG0014157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	86					0	0	1	0	0	A	205498652	G	A	205498652	2	1	242	1	0	0	0	0	0	0	0	1	3156	1339	47	2		2	CDK18	1	205498652	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	287801	205498652	43751969	104	11718											
RASSF5	83593	broad.mit.edu	37	chr1	206757996	206757996	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagtttgcactttttaagcGgatacacaaggacggacaag	14	9	11	7	2	0	0	0	0	0	0	0	4	0	3	0	3	3	2	0	3	5	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:206757996G>A	ENST00000304534.8	+	3	918	c.509G>A	c.(508-510)cGg>cAg	p.R170Q	RASSF5_ENST00000367117.3_Missense_Mutation_p.R323Q|EIF2D_ENST00000472709.2_Intron|RASSF5_ENST00000338603.2_Missense_Mutation_p.R323Q|RASSF5_ENST00000355294.4_Missense_Mutation_p.R323Q|RASSF5_ENST00000491368.1_3'UTR	NM_182665.2	NP_872606.1	Q8WWW0	RASF5_HUMAN	Ras association (RalGDS/AF-6) domain family member 5	323					apoptosis|intracellular signal transduction	cytoplasm|microtubule	metal ion binding|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			CTTTTTAAGCGGATACACAAG	0.537													16	57					0	0	1	0	0	A	206757996	G	A	206757996	3	1	242	1	0	0	0	0	1	0	0	0	13141	1116	39	1	1106	1	RASSF5	1	206757996	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1259344	206757996	42492625	105	11719											
PROX1	5629	broad.mit.edu	37	chr1	214170044	214170044	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttctgagcaggatgttgagTattcagtggtgcagcatgca	9	12	14	6	0	2	2	1	2	1	0	2	3	2	3	0	2	4	7	0	2	1	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:214170044T>C	ENST00000366958.4	+	2	774	c.166T>C	c.(166-168)Tat>Cat	p.Y56H	PROX1_ENST00000261454.4_Missense_Mutation_p.Y56H|PROX1_ENST00000498508.2_Missense_Mutation_p.Y56H|PROX1_ENST00000435016.1_Missense_Mutation_p.Y56H	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	56					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GGATGTTGAGTATTCAGTGGT	0.478													6	85					0	0	1	0	0	C	214170044	T	C	214170044	3	2	242	1	0	0	0	0	1	0	0	0	12612	1638	57	3	168	3	PROX1	1	214170044	Missense_Mutation	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	7412048	214170044	35080577	106	11720											
PTPN14	5784	broad.mit.edu	37	chr1	214556938	214556938	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcacactcttccttggacCggggtactcaggcgggggct	5	9	14	13	2	3	0	2	0	1	0	4	1	4	1	2	6	1	3	2	6	1	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:214556938C>T	ENST00000366956.5	-	13	2454	c.2260G>A	c.(2260-2262)Ggt>Agt	p.G754S	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	754					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TTCCTTGGACCGGGGTACTCA	0.667													5	94					0	0	1	0	0	T	214556938	C	T	214556938	3	4	242	1	0	0	0	0	1	0	0	0	12833	652	23	1	1331	1	PTPN14	1	214556938	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	386894	214556938	34693683	107	11721											
KCTD3	51133	broad.mit.edu	37	chr1	215793922	215793922	+	Frame_Shift_Del	DEL	A	A	-																															ctactccatctcctcggcatAaaaaaagtgattcttcaggt																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:215793922delA	ENST00000259154.4	+	18	2704	c.2410delA	c.(2410-2412)aafs	p.K805fs	KCTD3_ENST00000495537.1_3'UTR	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	805						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		TCCTCGGCATAAAAAAAGTGA	0.418													21	74	---	---	---	---						-	215793922	A	-	215793922	7	5	242	1	0	1	0	1	0	0	0	0	8154	363	13	0	2480	0	KCTD3	1	215793922	Frame_Shift_Del	DEL	A	TCGA-KK-A59V-01A-11D-A29Q-08	1236984	215793922	33456699	108	11722											
USH2A	7399	broad.mit.edu	37	chr1	215848693	215848693	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atctgcgaatcacttcatagCgaattatttttccatttggg	10	16	7	8	2	3	0	2	0	1	0	4	2	4	0	1	1	2	0	1	1	4	6	rs147304271		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:215848693C>T	ENST00000366943.2	-	63	12946	c.12560G>A	c.(12559-12561)cGc>cAc	p.R4187H	USH2A_ENST00000307340.3_Missense_Mutation_p.R4187H			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4187	Fibronectin type-III 27.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CACTTCATAGCGAATTATTTT	0.468										HNSCC(13;0.011)			4	112					0	0	1	0	0	T	215848693	C	T	215848693	3	4	242	1	0	0	0	0	1	0	0	0	17096	768	27	1	3088	1	USH2A	1	215848693	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	54771	215848693	33401928	109	11723											
TGFB2	7042	broad.mit.edu	37	chr1	218614599	218614599	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcatctgcttctccttgctgCgtgtcccaagatttagaacc	7	13	8	13	1	2	2	0	0	2	2	4	2	3	2	3	0	4	3	3	0	3	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:218614599C>T	ENST00000366929.4	+	8	1691	c.1224C>T	c.(1222-1224)tgC>tgT	p.C408C	TGFB2_ENST00000366930.4_Silent_p.C380C|TGFB2_ENST00000479322.1_3'UTR	NM_001135599.2	NP_001129071.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	380					activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding	p.C408C(1)|p.C380C(1)		breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		CTCCTTGCTGCGTGTCCCAAG	0.408													4	125					0	0	1	0	0	T	218614599	C	T	218614599	2	4	242	1	0	0	0	0	0	0	0	1	15878	776	27	1		1	TGFB2	1	218614599	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	2765906	218614599	30636022	110	11724											
RAB3GAP2	25782	broad.mit.edu	37	chr1	220340962	220340962	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcattagccagttttaatacTtcagggctgaagtcctgttt	9	16	8	8	0	2	1	2	1	0	0	3	1	3	1	2	1	2	3	2	1	4	6			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:220340962T>G	ENST00000358951.2	-	25	2978	c.2862A>C	c.(2860-2862)gaA>gaC	p.E954D		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	954					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		GTTTTAATACTTCAGGGCTGA	0.388													58	140					0	0	1	0	0	G	220340962	T	G	220340962	3	3	242	1	0	0	0	0	1	0	0	0	12988	1606	56	5	1363	5	RAB3GAP2	1	220340962	Missense_Mutation	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	1726363	220340962	28909659	111	11725											
HLX	3142	broad.mit.edu	37	chr1	221057685	221057685	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggacgagaggagccccagccGttctgaaggcgaggctgaga	10	4	17	10	3	1	3	0	2	1	2	1	8	1	5	3	4	2	2	3	4	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:221057685G>A	ENST00000366903.6	+	4	2607	c.1106G>A	c.(1105-1107)cGt>cAt	p.R369H	HLX_ENST00000549319.1_Missense_Mutation_p.R155H	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	369	Ser-rich.				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		AGCCCCAGCCGTTCTGAAGGC	0.667													14	33					0	0	1	0	0	A	221057685	G	A	221057685	3	1	242	1	0	0	0	0	1	0	0	0	7257	1145	40	1	1120	1	HLX	1	221057685	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	716723	221057685	28192936	112	11726											
DISP1	84976	broad.mit.edu	37	chr1	223178967	223178967	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcaaaacgtgttgcgaccccGagaataaacaaagggaactc	16	6	9	10	3	1	1	1	0	0	1	2	4	1	2	2	1	4	1	2	1	7	2	rs148545972	by1000genomes	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:223178967G>A	ENST00000284476.6	+	8	4392	c.4228G>A	c.(4228-4230)Gag>Aag	p.E1410K		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1410					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TTGCGACCCCGAGAATAAACA	0.478													30	59					0	0	1	0	0	A	223178967	G	A	223178967	3	1	242	1	0	0	0	0	1	0	0	0	4567	1059	37	1	4254	1	DISP1	1	223178967	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	2121282	223178967	26071654	113	11727											
EPHX1	2052	broad.mit.edu	37	chr1	226027660	226027660	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtggagctgctgtaccccGtcaaggagaaggtattctac	10	10	12	9	1	2	1	1	0	1	1	2	3	2	2	2	3	4	4	2	3	5	4	rs45449793	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:226027660G>A	ENST00000366837.4	+	6	1049	c.853G>A	c.(853-855)Gtc>Atc	p.V285I	EPHX1_ENST00000272167.5_Missense_Mutation_p.V285I	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	285			V -> L (in dbSNP:rs45449793).		aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					GCTGTACCCCGTCAAGGAGAA	0.557													41	80					0	0	1	0	0	A	226027660	G	A	226027660	3	1	242	1	0	0	0	0	1	0	0	0	5207	1145	40	1	871	1	EPHX1	1	226027660	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	2848693	226027660	23222961	114	11728											
ACBD3	64746	broad.mit.edu	37	chr1	226334447	226334447	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctcctcatgacagtcccgtCggtacacaggcacaatctca	10	8	7	16	2	2	1	2	1	1	0	6	1	4	1	3	2	1	2	3	2	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:226334447C>T	ENST00000366812.5	-	8	1505	c.1451G>A	c.(1450-1452)cGa>cAa	p.R484Q		NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	484	GOLD.				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		ACAGTCCCGTCGGTACACAGG	0.473													5	138					0	0	1	0	0	T	226334447	C	T	226334447	3	4	242	1	0	0	0	0	1	0	0	0	123	884	31	1	139	1	ACBD3	1	226334447	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	306787	226334447	22916174	115	11729											
WNT3A	89780	broad.mit.edu	37	chr1	228210434	228210434	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcctgtgtgccagcatcccGggcctggtccccaagcagct	6	8	11	16	1	0	0	0	0	0	0	3	0	3	0	6	2	4	3	6	2	1	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:228210434G>A	ENST00000284523.1	+	2	216	c.138G>A	c.(136-138)ccG>ccA	p.P46P	WNT3A_ENST00000366753.2_Silent_p.P46P	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	46					axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				CCAGCATCCCGGGCCTGGTCC	0.642													29	63					0	0	1	0	0	A	228210434	G	A	228210434	2	1	242	1	0	0	0	0	0	0	0	1	17449	1103	39	1		1	WNT3A	1	228210434	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1875987	228210434	21040187	116	11730											
OBSCN	84033	broad.mit.edu	37	chr1	228557668	228557668	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgctcatccccatttgccGgcgagagtgaccgtgccacc	6	8	10	17	3	1	2	1	1	0	1	2	3	2	2	7	1	3	1	7	1	0	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:228557668G>A	ENST00000570156.2	+	102	22938	c.22864G>A	c.(22864-22866)Ggc>Agc	p.G7622S	OBSCN_ENST00000366707.4_Missense_Mutation_p.G4299S|OBSCN_ENST00000422127.1_Missense_Mutation_p.G6665S	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6665	Fibronectin type-III 4.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCCATTTGCCGGCGAGAGTGA	0.622													16	52					0	0	1	0	0	A	228557668	G	A	228557668	3	1	242	1	0	0	0	0	1	0	0	0	10860	1116	39	1	21561	1	OBSCN	1	228557668	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	347234	228557668	20692953	117	11731											
PCNXL2	80003	broad.mit.edu	37	chr1	233190117	233190117	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagccaaaataaagcaatcGccagagctgtagttgcccca	15	6	9	11	1	0	1	0	0	0	1	1	2	0	1	4	0	4	4	4	0	7	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:233190117G>A	ENST00000258229.8	-	25	4482	c.4248C>T	c.(4246-4248)ggC>ggT	p.G1416G	PCNXL2_ENST00000344698.2_Silent_p.G68G	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1416						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TAAAGCAATCGCCAGAGCTGT	0.443													11	36					0	0	1	0	0	A	233190117	G	A	233190117	2	1	242	1	0	0	0	0	0	0	0	1	11639	1074	38	1		1	PCNXL2	1	233190117	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	4632449	233190117	16060504	118	11732											
KIF26B	55083	broad.mit.edu	37	chr1	245861488	245861488	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccccccaacagcacaggcGtccgctgggtggatggcccc	8	4	12	17	2	0	0	0	0	0	0	1	1	1	1	6	4	3	2	6	4	2	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:245861488G>A	ENST00000366518.4	+	10	4866	c.4762G>A	c.(4762-4764)Gtc>Atc	p.V1588I	KIF26B_ENST00000407071.2_Missense_Mutation_p.V1969I			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1969					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CAGCACAGGCGTCCGCTGGGT	0.602													15	39					0	0	1	0	0	A	245861488	G	A	245861488	3	1	242	1	0	0	0	0	1	0	0	0	8337	1145	40	1	5955	1	KIF26B	1	245861488	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	12671371	245861488	3389133	119	11733											
TFB2M	64216	broad.mit.edu	37	chr1	246711852	246711852	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttattttattcttaccctacGctttgggttttccagcggcc	5	18	7	11	2	1	0	0	0	1	0	2	0	2	0	3	2	3	2	3	2	4	9			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:246711852G>A	ENST00000366514.4	-	6	1038	c.853C>T	c.(853-855)Cgt>Tgt	p.R285C	TFB2M_ENST00000544618.1_3'UTR	NM_022366.2	NP_071761.1	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial	285					positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity			breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)			CTTACCCTACGCTTTGGGTTT	0.348													4	77					0	0	1	0	0	A	246711852	G	A	246711852	3	1	242	1	0	0	0	0	1	0	0	0	15854	1087	38	1	349	1	TFB2M	1	246711852	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	850364	246711852	2538769	120	11734											
ZNF670	93474	broad.mit.edu	37	chr1	247201212	247201212	+	Frame_Shift_Del	DEL	A	A	-																															atgttggcgaagagaactggAaaaagtgaatgatttaccac																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:247201212delA	ENST00000366503.2	-	4	867	c.709delT	c.(709-711)ccfs	p.S239fs		NM_001204220.1|NM_033213.4	NP_001191149.1|NP_149990.1	Q9BS34	ZN670_HUMAN	zinc finger protein 670	239					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00427)			AGAGAACTGGAAAAAGTGAAT	0.383													22	54	---	---	---	---						-	247201212	A	-	247201212	7	5	242	1	0	1	0	1	0	0	0	0	18134	246	9	0	464	0	ZNF670	1	247201212	Frame_Shift_Del	DEL	A	TCGA-KK-A59V-01A-11D-A29Q-08	489360	247201212	2049409	121	11735											
NLRP3	114548	broad.mit.edu	37	chr1	247587978	247587978	+	Frame_Shift_Del	DEL	C	C	-																															ctcttcaccatgtgcttcatCcccctggtctgctggatcgt																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:247587978delC	ENST00000366497.2	+	4	2013	c.1233delC	c.(1231-1233)atfs	p.I411fs	NLRP3_ENST00000348069.2_Frame_Shift_Del_p.I411fs|NLRP3_ENST00000391827.2_Frame_Shift_Del_p.I411fs|NLRP3_ENST00000336119.3_Frame_Shift_Del_p.I411fs|NLRP3_ENST00000391828.3_Frame_Shift_Del_p.I411fs|NLRP3_ENST00000366496.2_Frame_Shift_Del_p.I411fs|NLRP3_ENST00000474792.1_3'UTR	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	411	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TGTGCTTCATCCCCCTGGTCT	0.547													7	83	---	---	---	---						-	247587978	C	-	247587978	7	5	242	1	0	1	0	1	0	0	0	0	10525	845	30	0	1243	0	NLRP3	1	247587978	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	386766	247587978	1662643	122	11736											
OR2M3	127062	broad.mit.edu	37	chr1	248366442	248366442	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaatcacagccccacccacAccttcctcttctttctggtc	7	12	3	19	0	5	0	2	0	3	0	7	0	6	0	5	1	1	0	5	1	1	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:248366442A>G	ENST00000456743.1	+	1	111	c.73A>G	c.(73-75)Acc>Gcc	p.T25A		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CCCCACCCACACCTTCCTCTT	0.512													104	246					0	0	1	0	0	G	248366442	A	G	248366442	3	3	242	1	0	0	0	0	1	0	0	0	11059	159	6	3	75	3	OR2M3	1	248366442	Missense_Mutation	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	778464	248366442	884179	123	11737											
SH3BP5L	80851	broad.mit.edu	37	chr1	249106151	249106151	+	Frame_Shift_Del	DEL	C	C	-																															cacgggctccgccgtcgctgCcccggcgccctccactccgc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:249106151delC	ENST00000366472.5	-	7	2359	c.1130delG	c.(1129-1131)gcfs	p.G377fs	SH3BP5L_ENST00000411742.2_Frame_Shift_Del_p.G345fs|SH3BP5L_ENST00000475978.1_5'UTR	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	377										endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GCCGTCGCTGCCCCGGCGCCC	0.701													4	5	---	---	---	---						-	249106151	C	-	249106151	7	5	242	1	0	1	0	1	0	0	0	0	14302	739	26	0	55	0	SH3BP5L	1	249106151	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	739709	249106151	144470	124	11738											
PGBD2	0	broad.mit.edu	37	chr1	249211136	249211136	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggaccaaaagagatattcGtccagactttggcagttgga	12	11	11	7	1	0	2	0	0	0	2	2	5	1	4	2	3	0	2	2	3	3	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:249211136G>A	ENST00000539153.1	+	4	599	c.344G>A	c.(343-345)cGt>cAt	p.R115H	PGBD2_ENST00000329291.5_Missense_Mutation_p.R118H|PGBD2_ENST00000355360.4_Intron|PGBD2_ENST00000462488.1_Intron			Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	118										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AGAGATATTCGTCCAGACTTT	0.493													15	56					0	0	1	0	0	A	249211136	G	A	249211136	3	1	242	1	0	0	0	0	1	0	0	0	11829	1145	40	1	359	1	PGBD2	1	249211136	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	104985	249211136	39485	125	11739											
PGBD2	0	broad.mit.edu	37	chr1	249211881	249211881	+	Frame_Shift_Del	DEL	G	G	-																															atgtccattttgaggaaaaaGggggtgaaagccacaggaac																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr1:249211881delG	ENST00000355360.4	+	3	615	c.345delG	c.(343-345)aafs	p.K115fs	PGBD2_ENST00000329291.5_Frame_Shift_Del_p.K366fs|PGBD2_ENST00000539153.1_Frame_Shift_Del_p.K363fs	NM_001017434.1	NP_001017434.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	366										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TGAGGAAAAAGGGGGTGAAAG	0.418													34	92	---	---	---	---						-	249211881	G	-	249211881	7	5	242	1	0	1	0	1	0	0	0	0	11829	991	35	0	1104	0	PGBD2	1	249211881	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	745	249211881	38740	126	11740											
PXDN	7837	broad.mit.edu	37	chr2	1652754	1652754	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccctgccgcagcaggccgCggtggctggccaggtcgcgg	3	5	18	15	5	0	0	0	0	0	0	1	0	0	0	4	6	3	3	4	6	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:1652754C>T	ENST00000252804.4	-	17	2848	c.2798G>A	c.(2797-2799)cGc>cAc	p.R933H		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	933					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)		CAGCAGGCCGCGGTGGCTGGC	0.692													11	34					0	0	1	0	0	T	1652754	C	T	1652754	3	4	242	1	0	0	0	0	1	0	0	0	12899	768	27	1	1669	1	PXDN	2	1652754	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08		1652754	241546619	127	11741											
MYT1L	23040	broad.mit.edu	37	chr2	1926367	1926367	+	Frame_Shift_Del	DEL	G	G	-																															gctggcaaacactctcgaccGggggctcaactgctcctcca																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:1926367delG	ENST00000399161.2	-	10	1921	c.1174delC	c.(1174-1176)ggfs	p.R392fs	MYT1L_ENST00000428368.2_Frame_Shift_Del_p.R392fs	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	392					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		ACTCTCGACCGGGGGCTCAAC	0.592													14	46	---	---	---	---						-	1926367	G	-	1926367	7	5	242	1	0	1	0	1	0	0	0	0	10155	1115	39	0	2444	0	MYT1L	2	1926367	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	273613	1926367	241273006	128	11742											
ASAP2	8853	broad.mit.edu	37	chr2	9528611	9528611	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagtggcagcccacctccCgcccagcctgcagcccccag	6	4	10	21	1	0	1	0	1	0	0	1	1	1	1	7	1	4	2	7	1	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:9528611C>T	ENST00000281419.3	+	22	2659	c.2319C>T	c.(2317-2319)ccC>ccT	p.P773P	ASAP2_ENST00000315273.4_Silent_p.P773P|ASAP2_ENST00000491413.1_3'UTR	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	773	Pro-rich.				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						GCCCACCTCCCGCCCAGCCTG	0.587													13	41					0	0	1	0	0	T	9528611	C	T	9528611	2	4	242	1	0	0	0	0	0	0	0	1	1010	639	23	1		1	ASAP2	2	9528611	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	7602244	9528611	233670762	129	11743											
PQLC3	130814	broad.mit.edu	37	chr2	11317936	11317936	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacttcgctaccggaagacCgctataaaggctgaatgatg	12	9	11	9	3	0	3	0	2	0	1	1	4	0	4	2	2	2	4	2	2	7	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:11317936C>T	ENST00000295083.3	+	7	766	c.591C>T	c.(589-591)acC>acT	p.T197T	PQLC3_ENST00000402361.1_3'UTR|PQLC3_ENST00000441908.2_Silent_p.T183T	NM_152391.3	NP_689604.1	Q8N755	PQLC3_HUMAN	PQ loop repeat containing 3	197						integral to membrane				kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0978)|OV - Ovarian serous cystadenocarcinoma(76;0.132)		ACCGGAAGACCGCTATAAAGG	0.348													5	45					0	0	1	0	0	T	11317936	C	T	11317936	2	4	242	1	0	0	0	0	0	0	0	1	12469	639	23	1		1	PQLC3	2	11317936	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1789325	11317936	231881437	130	11744											
NBAS	51594	broad.mit.edu	37	chr2	15372633	15372633	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caccaaggtcagcactgccaCcactgtgaaaagagagataa	16	5	9	11	0	1	3	1	1	0	2	1	4	1	3	3	1	2	1	3	1	4	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:15372633C>A	ENST00000281513.5	-	47	6174	c.6149G>T	c.(6148-6150)gGt>gTt	p.G2050V	NBAS_ENST00000441750.1_Missense_Mutation_p.G1930V	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	2050										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						AGCACTGCCACCACTGTGAAA	0.483													9	30					2.74318e-10	2.85122e-10	1	1	0	A	15372633	C	A	15372633	3	1	242	1	0	0	0	0	1	0	0	0	10234	507	18	4	990	4	NBAS	2	15372633	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	4054697	15372633	227826740	131	11745											
PUM2	23369	broad.mit.edu	37	chr2	20511377	20511377	+	Frame_Shift_Del	DEL	T	T	-																															tcaaatggagaagccttgccTttttgatctcctttctcagg																								rs34931937		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:20511377delT	ENST00000361078.2	-	4	418	c.396delA	c.(394-396)aafs	p.K132fs	PUM2_ENST00000536417.1_Frame_Shift_Del_p.K76fs|PUM2_ENST00000420234.1_Intron|PUM2_ENST00000403432.1_Frame_Shift_Del_p.K132fs|PUM2_ENST00000319801.5_Frame_Shift_Del_p.K132fs|PUM2_ENST00000338086.5_Frame_Shift_Del_p.K132fs			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	132	Interaction with SNAPIN.				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGCCTTGCCTTTTTGATCTC	0.373													17	31	---	---	---	---						-	20511377	T	-	20511377	7	5	242	1	0	1	0	1	0	0	0	0	12878	1606	56	0	2866	0	PUM2	2	20511377	Frame_Shift_Del	DEL	T	TCGA-KK-A59V-01A-11D-A29Q-08	5138744	20511377	222687996	132	11746											
C2orf44	80304	broad.mit.edu	37	chr2	24262246	24262246	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacctctccactgtgaagcCgcaaatcagttaggacaact	12	9	8	12	1	2	2	1	2	1	0	3	3	2	3	3	1	2	2	3	1	4	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:24262246C>T	ENST00000295148.4	-	2	176	c.119G>A	c.(118-120)cGg>cAg	p.R40Q	C2orf44_ENST00000406895.3_Missense_Mutation_p.R40Q	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	40							protein binding		C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTGTGAAGCCGCAAATCAGT	0.507			T	ALK	NSCLC								16	62					0	0	1	0	0	T	24262246	C	T	24262246	3	4	242	1	0	0	0	0	1	0	0	0	2182	652	23	1	2058	1	C2orf44	2	24262246	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	3750869	24262246	218937127	133	11747											
DTNB	1838	broad.mit.edu	37	chr2	25611102	25611102	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcctcctgcacgtctcccccGactccgctcagcgagtcctg	4	8	9	20	4	2	0	1	0	1	0	6	2	5	0	6	0	2	2	6	0	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:25611102G>A	ENST00000406818.3	-	17	1953	c.1704C>T	c.(1702-1704)gtC>gtT	p.V568V	DTNB_ENST00000288642.8_Silent_p.V568V|DTNB_ENST00000545439.1_Silent_p.V357V|DTNB_ENST00000496972.2_Silent_p.V504V|DTNB_ENST00000407661.3_Silent_p.V568V|DTNB_ENST00000407038.3_Silent_p.V538V|DTNB_ENST00000407186.1_Silent_p.V531V|DTNB_ENST00000405222.1_Silent_p.V531V|DTNB_ENST00000404103.3_Silent_p.V568V	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	568						cytoplasm	calcium ion binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGTCTCCCCCGACTCCGCTCA	0.652													8	19					0	0	1	0	0	A	25611102	G	A	25611102	2	1	242	1	0	0	0	0	0	0	0	1	4815	1045	37	1		1	DTNB	2	25611102	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1348856	25611102	217588271	134	11748											
OTOF	9381	broad.mit.edu	37	chr2	26689975	26689975	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctggcctgaccttgaagcGtcccacaatgcgctcctcct	6	10	8	17	2	0	2	0	2	0	0	4	2	4	2	6	1	2	1	6	1	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:26689975G>A	ENST00000272371.2	-	35	4480	c.4354C>T	c.(4354-4356)Cgc>Tgc	p.R1452C	OTOF_ENST00000339598.3_Missense_Mutation_p.R685C|OTOF_ENST00000338581.6_Missense_Mutation_p.R685C|OTOF_ENST00000403946.3_Missense_Mutation_p.R1452C|OTOF_ENST00000402415.3_Missense_Mutation_p.R762C	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1452					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACCTTGAAGCGTCCCACAATG	0.642													21	58					0	0	1	0	0	A	26689975	G	A	26689975	3	1	242	1	0	0	0	0	1	0	0	0	11350	1145	40	1	1872	1	OTOF	2	26689975	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1078873	26689975	216509398	135	11749											
OTOF	9381	broad.mit.edu	37	chr2	26741909	26741909	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgttgtcatcaatcagcGtgtcagtcacctccacatgg	9	12	8	12	1	5	0	5	0	0	0	6	0	6	0	2	1	1	1	2	1	1	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:26741909G>A	ENST00000272371.2	-	4	422	c.296C>T	c.(295-297)aCg>aTg	p.T99M	OTOF_ENST00000403946.3_Missense_Mutation_p.T99M	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	99					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	p.T99M(1)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCAATCAGCGTGTCAGTCAC	0.577													4	6					0	0	1	0	0	A	26741909	G	A	26741909	3	1	242	1	0	0	0	0	1	0	0	0	11350	1145	40	1	6198	1	OTOF	2	26741909	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	51934	26741909	216457464	136	11750											
NRBP1	29959	broad.mit.edu	37	chr2	27658073	27658073	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccatcttcatccagcacaacGgactcatcaagattggctct	11	10	6	14	1	5	1	3	0	2	1	6	2	6	2	2	2	2	2	2	2	2	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:27658073G>A	ENST00000233557.3	+	8	1472	c.640G>A	c.(640-642)Gga>Aga	p.G214R	NRBP1_ENST00000379852.3_Missense_Mutation_p.G214R|NRBP1_ENST00000379863.3_Missense_Mutation_p.G214R			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	214	Protein kinase.				ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					CCAGCACAACGGACTCATCAA	0.582													7	72					0	0	1	0	0	A	27658073	G	A	27658073	3	1	242	1	0	0	0	0	1	0	0	0	10690	1117	39	1	662	1	NRBP1	2	27658073	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	916164	27658073	215541300	137	11751											
IFT172	26160	broad.mit.edu	37	chr2	27688651	27688651	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcaatggctgttccaaactcGatgaggccctcatccaatgt	10	11	8	12	1	2	1	2	1	0	0	5	2	4	1	3	2	1	2	3	2	3	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:27688651G>A	ENST00000260570.3	-	17	1894	c.1791C>T	c.(1789-1791)atC>atT	p.I597I		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	597					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TTCCAAACTCGATGAGGCCCT	0.552													197	418					0	0	1	0	0	A	27688651	G	A	27688651	2	1	242	1	0	0	0	0	0	0	0	1	7601	1048	37	1		1	IFT172	2	27688651	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	30578	27688651	215510722	138	11752											
ABCG8	64241	broad.mit.edu	37	chr2	44100941	44100941	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttaagtcgtcagatttccaaCgacttccgagacctgcccac	10	10	7	14	3	1	2	1	0	0	2	4	4	3	2	4	0	2	0	4	0	2	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:44100941C>T	ENST00000272286.2	+	9	1317	c.1227C>T	c.(1225-1227)aaC>aaT	p.N409N		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	409					cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AGATTTCCAACGACTTCCGAG	0.542													54	98					0	0	1	0	0	T	44100941	C	T	44100941	2	4	242	1	0	0	0	0	0	0	0	1	72	535	19	1		1	ABCG8	2	44100941	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	16412290	44100941	199098432	139	11753											
SPTBN1	0	broad.mit.edu	37	chr2	54876764	54876764	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtttcagatgttacaagaaCgattccgggagtttgcccga	10	11	11	9	4	1	2	1	0	0	2	2	5	2	3	2	1	3	3	2	1	3	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:54876764C>T	ENST00000333896.5	+	25	5561	c.5176C>T	c.(5176-5178)Cga>Tga	p.R1726*	SPTBN1_ENST00000356805.4_Nonsense_Mutation_p.R1739*	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1739	Interaction with ANK2.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GTTACAAGAACGATTCCGGGA	0.498													4	17					0	0	1	0	0	T	54876764	C	T	54876764	4	4	242	1	0	0	0	0	0	1	0	0	15175	528	19	1	5426	1	SPTBN1	2	54876764	Nonsense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	10775823	54876764	188322609	140	11754											
RPS27A	6233	broad.mit.edu	37	chr2	55462017	55462019	+	In_Frame_Del	DEL	GAA	GAA	-																															cgtggtggtgctaagaaaagGaagaagaagtcttacaccac																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:55462017_55462019delGAA	ENST00000272317.6	+	5	564_566	c.240_242delGAA	c.(238-243)agg>ag	p.RK80del	RPS27A_ENST00000404735.1_In_Frame_Del_p.RK80del|RPS27A_ENST00000402285.3_In_Frame_Del_p.RK80del	NM_002954.5	NP_002945.1	P62979	RS27A_HUMAN	ribosomal protein S27a	80	Lys-rich (highly basic).				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	metal ion binding|structural constituent of ribosome			cervix(1)|ovary(1)|urinary_tract(1)	3						CTAAGAAAAGGAAGAAGAAGTCT	0.419													10	17	---	---	---	---						-	55462019	GAA	-	55462017	7	5	242	1	0	1	0	1	0	0	0	0	13691	1165	41	0	254	0	RPS27A	2	55462017	In_Frame_Del	DEL	GAA	TCGA-KK-A59V-01A-11D-A29Q-08	585253	55462017	187737356	141	11755											
PUS10	150962	broad.mit.edu	37	chr2	61175177	61175177	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgcagcaggtggaaggataCgtgccagcctgagttttcaa	10	9	14	8	1	1	1	1	1	0	0	1	3	1	3	2	3	5	3	2	3	3	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:61175177C>T	ENST00000316752.6	-	16	1713		c.e16+1		PUS10_ENST00000407787.1_Splice_Site	NM_144709.2	NP_653310.2	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10						pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			TGGAAGGATACGTGCCAGCCT	0.552													30	113					0	0	1	0	0	T	61175177	C	T	61175177	5	4	242	1	0	0	0	0	0	0	1	0	12883	550	19	1	149	1	PUS10	2	61175177	Splice_Site	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	5713160	61175177	182024196	142	11756											
ATP6V1B1	525	broad.mit.edu	37	chr2	71187196	71187196	+	Frame_Shift_Del	DEL	C	C	-																															atcttctcagcagccgggctCccccacaatgaggtgaggcc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:71187196delC	ENST00000234396.4	+	6	646	c.573delC	c.(571-573)ctfs	p.L191fs	ATP6V1B1_ENST00000412314.1_Frame_Shift_Del_p.L191fs|AC007040.11_ENST00000606025.1_Intron	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	191					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						CAGCCGGGCTCCCCCACAATG	0.622													25	58	---	---	---	---						-	71187196	C	-	71187196	7	5	242	1	0	1	0	1	0	0	0	0	1176	842	30	0	595	0	ATP6V1B1	2	71187196	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	10012019	71187196	172012177	143	11757											
RAB11FIP5	26056	broad.mit.edu	37	chr2	73316367	73316367	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggcgctcaggttgttgcGcgtgaactggatggtgactt	6	12	15	8	3	1	2	1	2	0	0	1	3	1	3	0	4	2	3	0	4	1	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:73316367G>A	ENST00000258098.6	-	2	748	c.508C>T	c.(508-510)Cgc>Tgc	p.R170C	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	170					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						AGGTTGTTGCGCGTGAACTGG	0.537													14	331					0	0	1	0	0	A	73316367	G	A	73316367	3	1	242	1	0	0	0	0	1	0	0	0	12949	1087	38	1	1469	1	RAB11FIP5	2	73316367	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	2129171	73316367	169883006	144	11758											
ALMS1	7840	broad.mit.edu	37	chr2	73677817	73677817	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacaacatacagagaagcCgagtattttctaccaacagt	15	9	6	11	1	2	1	1	0	1	1	2	3	2	1	2	0	5	1	2	0	6	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:73677817C>T	ENST00000264448.6	+	8	4271	c.4160C>T	c.(4159-4161)cCg>cTg	p.P1387L	ALMS1_ENST00000377715.1_Missense_Mutation_p.P1387L|ALMS1_ENST00000409009.1_Missense_Mutation_p.P1345L	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1387	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						ACAGAGAAGCCGAGTATTTTC	0.473													44	111					0	0	1	0	0	T	73677817	C	T	73677817	3	4	242	1	0	0	0	0	1	0	0	0	531	652	23	1	4190	1	ALMS1	2	73677817	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	361450	73677817	169521556	145	11759											
DCTN1	1639	broad.mit.edu	37	chr2	74605228	74605228	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgcttcatccagaatcaCgcctacccatttgccagtgg	8	12	7	14	1	2	1	2	0	0	1	3	1	3	1	4	1	3	1	4	1	2	4	rs74768853		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:74605228C>T	ENST00000361874.3	-	2	495	c.178G>A	c.(178-180)Gtg>Atg	p.V60M	DCTN1_ENST00000409567.3_Missense_Mutation_p.V60M|DCTN1_ENST00000409868.1_Missense_Mutation_p.V43M|DCTN1_ENST00000394003.3_Missense_Mutation_p.V60M|DCTN1_ENST00000409240.1_Missense_Mutation_p.V43M	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	60	CAP-Gly.				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						TCCAGAATCACGCCTACCCAT	0.532													18	59					0	0	1	0	0	T	74605228	C	T	74605228	3	4	242	1	0	0	0	0	1	0	0	0	4329	536	19	1	3794	1	DCTN1	2	74605228	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	927411	74605228	168594145	146	11760											
VAMP5	10791	broad.mit.edu	37	chr2	85818986	85818986	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagaccaactcctggatatgGtgtgaggcctgggggagcat	9	8	15	9	0	0	2	0	1	0	1	1	4	1	4	3	5	2	1	3	5	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:85818986G>A	ENST00000306384.4	+	2	224		c.e2+1			NM_006634.2	NP_006625.1	O95183	VAMP5_HUMAN	vesicle-associated membrane protein 5						cell differentiation|vesicle-mediated transport	endomembrane system				NS(1)|large_intestine(3)|lung(1)	5						CCTGGATATGGTGTGAGGCCT	0.567													5	158					0	0	1	0	0	A	85818986	G	A	85818986	5	1	242	1	0	0	0	0	0	0	1	0	17176	1275	44	2	148	2	VAMP5	2	85818986	Splice_Site	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	11213758	85818986	157380387	147	11761											
SNRNP200	23020	broad.mit.edu	37	chr2	96957583	96957583	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttttctaggcacatgtccCggatggccctggctgtcttt	4	14	10	13	1	2	0	0	0	2	0	3	1	3	1	3	4	0	2	3	4	1	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:96957583C>T	ENST00000323853.5	-	17	2293	c.2216G>A	c.(2215-2217)cGg>cAg	p.R739Q	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	739	Helicase C-terminal 1.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						GCACATGTCCCGGATGGCCCT	0.557													12	43					0	0	1	0	0	T	96957583	C	T	96957583	3	4	242	1	0	0	0	0	1	0	0	0	14906	652	23	1	4310	1	SNRNP200	2	96957583	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	11138597	96957583	146241790	148	11762											
CNNM4	26504	broad.mit.edu	37	chr2	97464908	97464908	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacaataagtactacgcccGccattacctgtacacccgaa	13	7	6	15	3	0	0	0	0	0	0	0	1	0	0	4	0	4	3	4	0	7	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:97464908G>A	ENST00000377075.2	+	4	1894	c.1796G>A	c.(1795-1797)cGc>cAc	p.R599H	CNNM4_ENST00000540067.1_Missense_Mutation_p.R86H|CNNM4_ENST00000496186.1_3'UTR	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin M4	599					biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						TACTACGCCCGCCATTACCTG	0.567													47	62					0	0	1	0	0	A	97464908	G	A	97464908	3	1	242	1	0	0	0	0	1	0	0	0	3638	1087	38	1	1810	1	CNNM4	2	97464908	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	507325	97464908	145734465	149	11763											
SEMA4C	54910	broad.mit.edu	37	chr2	97527616	97527616	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caccagctgagagcgggagcCggcaaagagcagcttctgcg	10	4	15	12	3	1	2	0	1	1	2	1	4	1	3	2	2	6	4	2	2	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:97527616C>T	ENST00000305476.5	-	13	1591	c.1459G>A	c.(1459-1461)Ggc>Agc	p.G487S		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	487	Dominant negative effect on myogenic differentiation (By similarity).|Sema.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						GAGCGGGAGCCGGCAAAGAGC	0.687													5	27					0	0	1	0	0	T	97527616	C	T	97527616	3	4	242	1	0	0	0	0	1	0	0	0	14087	652	23	1	1054	1	SEMA4C	2	97527616	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	62708	97527616	145671757	150	11764											
SLC5A7	60482	broad.mit.edu	37	chr2	108626820	108626820	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttctgaccttgtttacatcGttatcttcccccagctgctt	5	17	6	13	1	2	1	0	1	2	0	4	1	3	1	3	0	3	5	3	0	2	7			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:108626820G>A	ENST00000264047.2	+	9	1522	c.1246G>A	c.(1246-1248)Gtt>Att	p.V416I	SLC5A7_ENST00000409059.1_Missense_Mutation_p.V416I|SLC5A7_ENST00000540517.1_Missense_Mutation_p.V311I	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	416					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TGTTTACATCGTTATCTTCCC	0.483													22	67					0	0	1	0	0	A	108626820	G	A	108626820	3	1	242	1	0	0	0	0	1	0	0	0	14725	1145	40	1	1276	1	SLC5A7	2	108626820	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	11099204	108626820	134572553	151	11765											
RANBP2	5903	broad.mit.edu	37	chr2	109388168	109388168	+	Frame_Shift_Del	DEL	A	A	-																															gtgttacagcaaaagagaagAaaaaacctgaagattctccc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:109388168delA	ENST00000283195.6	+	21	7987	c.7861delA	c.(7861-7863)aafs	p.K2622fs		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2622					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AAAAGAGAAGAAAAAACCTGA	0.353													55	143	---	---	---	---						-	109388168	A	-	109388168	7	5	242	1	0	1	0	1	0	0	0	0	13080	247	9	0	7943	0	RANBP2	2	109388168	Frame_Shift_Del	DEL	A	TCGA-KK-A59V-01A-11D-A29Q-08	761348	109388168	133811205	152	11766											
PAX8	7849	broad.mit.edu	37	chr2	114002135	114002135	+	Frame_Shift_Del	DEL	G	G	-																															ccaatcttctccaccaccttGggggtggccaccttgggctt																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:114002135delG	ENST00000429538.3	-	4	452	c.258delC	c.(256-258)ccfs	p.P86fs	AC016683.6_ENST00000451179.1_RNA|AC016683.6_ENST00000333145.5_RNA|PAX8_ENST00000263335.7_Frame_Shift_Del_p.P86fs|PAX8_ENST00000397647.3_Frame_Shift_Del_p.P86fs|PAX8_ENST00000348715.5_Frame_Shift_Del_p.P86fs|AC016683.6_ENST00000445745.1_RNA|AC016683.6_ENST00000422956.1_RNA|AC016683.6_ENST00000553869.2_RNA|AC016683.6_ENST00000556070.1_RNA|AC016683.6_ENST00000436293.2_RNA|PAX8_ENST00000263334.5_Frame_Shift_Del_p.P86fs	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	86	Paired.				branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						CCACCACCTTGGGGGTGGCCA	0.567			T	PPARG	follicular thyroid		Thyroid dysgenesis						10	421	---	---	---	---						-	114002135	G	-	114002135	7	5	242	1	0	1	0	1	0	0	0	0	11532	1335	47	0	1005	0	PAX8	2	114002135	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	4613967	114002135	129197238	153	11767											
TUBA3E	112714	broad.mit.edu	37	chr2	130949671	130949671	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaggtctcccccggggacCactgtggggggctggtagtt	4	8	17	12	1	1	0	0	0	1	0	2	1	1	1	4	7	0	3	4	7	1	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:130949671C>T	ENST00000312988.7	-	5	1186	c.1086G>A	c.(1084-1086)gtG>gtA	p.V362V		NM_207312.2	NP_997195.1	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	362					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					CCCCGGGGACCACTGTGGGGG	0.592													30	73					0	0	1	0	0	T	130949671	C	T	130949671	2	4	242	1	0	0	0	0	0	0	0	1	16810	581	21	2		2	TUBA3E	2	130949671	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	16947536	130949671	112249702	154	11768											
TUBA3E	112714	broad.mit.edu	37	chr2	130951457	130951457	+	Frame_Shift_Del	DEL	T	T	-																															tttggggaccacgtccccccTgtacaacatgcagcaggcca																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:130951457delT	ENST00000312988.7	-	4	1058	c.958delA	c.(958-960)ggfs	p.R320fs		NM_207312.2	NP_997195.1	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	320					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					ACGTCCCCCCTGTACAACATG	0.562													59	141	---	---	---	---						-	130951457	T	-	130951457	7	5	242	1	0	1	0	1	0	0	0	0	16810	1579	55	0	402	0	TUBA3E	2	130951457	Frame_Shift_Del	DEL	T	TCGA-KK-A59V-01A-11D-A29Q-08	1786	130951457	112247916	155	11769											
LRP1B	53353	broad.mit.edu	37	chr2	141115624	141115624	+	Frame_Shift_Del	DEL	T	T	-																															tggagatccatagggatgcaTtttttattactacaagcaaa																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:141115624delT	ENST00000389484.3	-	74	12290	c.11319delA	c.(11317-11319)aafs	p.K3773fs		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3773	LDL-receptor class A 32.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TAGGGATGCATTTTTTATTAC	0.388										TSP Lung(27;0.18)			7	107	---	---	---	---						-	141115624	T	-	141115624	7	5	242	1	0	1	0	1	0	0	0	0	9000	1490	52	0	2552	0	LRP1B	2	141115624	Frame_Shift_Del	DEL	T	TCGA-KK-A59V-01A-11D-A29Q-08	10164167	141115624	102083749	156	11770											
LRP1B	53353	broad.mit.edu	37	chr2	141356218	141356218	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acatgtctctgggatccatcGtattcacacctttcaatttt	9	16	5	11	1	3	0	2	0	1	0	6	1	4	1	2	1	0	1	2	1	2	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:141356218G>A	ENST00000389484.3	-	43	8147	c.7176C>T	c.(7174-7176)taC>taT	p.Y2392Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2392					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GGGATCCATCGTATTCACACC	0.353										TSP Lung(27;0.18)			4	26					0	0	1	0	0	A	141356218	G	A	141356218	2	1	242	1	0	0	0	0	0	0	0	1	9000	1140	40	1		1	LRP1B	2	141356218	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	240594	141356218	101843155	157	11771											
KIF5C	3800	broad.mit.edu	37	chr2	149853788	149853788	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaaacagaaaaaatgcaCgaagtcagcttccaggataa	19	7	7	8	1	2	1	2	0	0	1	3	3	3	2	1	1	3	2	1	1	7	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:149853788C>T	ENST00000435030.1	+	18	2402	c.2034C>T	c.(2032-2034)caC>caT	p.H678H	KIF5C_ENST00000414838.2_Silent_p.H583H|KIF5C_ENST00000397413.1_Silent_p.H446H|KIF5C_ENST00000464066.1_3'UTR			O60282	KIF5C_HUMAN	kinesin family member 5C	678					microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		AAAAAATGCACGAAGTCAGCT	0.408													11	31					0	0	1	0	0	T	149853788	C	T	149853788	2	4	242	1	0	0	0	0	0	0	0	1	8349	535	19	1		1	KIF5C	2	149853788	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	8497570	149853788	93345585	158	11772											
NEB	4703	broad.mit.edu	37	chr2	152387573	152387573	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtgtcgtggattgtggtgtAgcctctgggtttggccttgt	2	17	16	6	1	1	0	0	0	1	0	2	1	1	1	2	4	1	2	2	4	1	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:152387573A>C	ENST00000427231.2	-	145	21767	c.21565T>G	c.(21565-21567)Tac>Gac	p.Y7189D	NEB_ENST00000409198.1_Missense_Mutation_p.Y5488D|NEB_ENST00000172853.10_Missense_Mutation_p.Y5488D|NEB_ENST00000604864.1_Missense_Mutation_p.Y7189D|NEB_ENST00000603639.1_Missense_Mutation_p.Y7189D|NEB_ENST00000397345.3_Missense_Mutation_p.Y7189D	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	5488					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATTGTGGTGTAGCCTCTGGGT	0.403													9	18					0	0	1	0	0	C	152387573	A	C	152387573	3	2	242	1	0	0	0	0	1	0	0	0	10349	420	15	5	4164	5	NEB	2	152387573	Missense_Mutation	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	2533785	152387573	90811800	159	11773											
NEB	4703	broad.mit.edu	37	chr2	152484040	152484040	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggatcttaattactcacatcGctctggaggtcataggcctg	9	12	10	10	1	4	0	2	0	2	0	5	2	4	2	1	4	1	1	1	4	3	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:152484040G>A	ENST00000427231.2	-	69	10342	c.10140C>T	c.(10138-10140)agC>agT	p.S3380S	NEB_ENST00000409198.1_Silent_p.S3137S|NEB_ENST00000172853.10_Silent_p.S3137S|NEB_ENST00000604864.1_Silent_p.S3380S|NEB_ENST00000603639.1_Silent_p.S3380S|NEB_ENST00000397345.3_Silent_p.S3380S	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	3380					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TACTCACATCGCTCTGGAGGT	0.468													9	227					0	0	1	0	0	A	152484040	G	A	152484040	2	1	242	1	0	0	0	0	0	0	0	1	10349	1078	38	1		1	NEB	2	152484040	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	96467	152484040	90715333	160	11774											
KCNJ3	3760	broad.mit.edu	37	chr2	155711423	155711423	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaaatgcttctcatgtcGtcccctttaatagcaccagc	10	11	8	12	1	1	0	1	0	1	0	4	2	2	1	3	1	3	2	3	1	3	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:155711423G>A	ENST00000295101.2	+	3	1581	c.1104G>A	c.(1102-1104)tcG>tcA	p.S368S	KCNJ3_ENST00000493505.1_3'UTR|KCNJ3_ENST00000544049.1_3'UTR	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	368					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	TTCTCATGTCGTCCCCTTTAA	0.408													40	111					0	0	1	0	0	A	155711423	G	A	155711423	2	1	242	1	0	0	0	0	0	0	0	1	8096	1132	40	1		1	KCNJ3	2	155711423	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	3227383	155711423	87487950	161	11775											
NR4A2	0	broad.mit.edu	37	chr2	157186312	157186312	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaagcccggggtggtgggCgtcgggggcgaggagggctt	4	6	24	7	4	0	0	0	0	0	0	1	3	0	2	1	9	1	1	1	9	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:157186312C>T	ENST00000339562.4	-	3	749	c.387G>A	c.(385-387)acG>acA	p.T129T	NR4A2_ENST00000429376.1_Silent_p.T66T|NR4A2_ENST00000539077.1_Silent_p.T140T|NR4A2_ENST00000426264.1_Silent_p.T66T|NR4A2_ENST00000409572.1_Silent_p.T129T|NR4A2_ENST00000409108.2_Silent_p.T129T	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	129	Gln-rich.|Pro-rich.				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						GGGTGGTGGGCGTCGGGGGCG	0.627													44	112					0	0	1	0	0	T	157186312	C	T	157186312	2	4	242	1	0	0	0	0	0	0	0	1	10681	755	27	1		1	NR4A2	2	157186312	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1474889	157186312	86013061	162	11776											
ITGB6	3694	broad.mit.edu	37	chr2	160994350	160994350	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgggatattcacagtcaCgctgaaggaagcctggaaaa	13	8	13	7	1	2	1	2	1	0	0	2	4	2	4	1	3	1	1	1	3	5	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:160994350C>T	ENST00000283249.2	-	10	1492	c.1255G>A	c.(1255-1257)Gtg>Atg	p.V419M	ITGB6_ENST00000409967.2_Missense_Mutation_p.V419M|ITGB6_ENST00000409872.1_Missense_Mutation_p.V419M|ITGB6_ENST00000428609.2_Missense_Mutation_p.V377M			P18564	ITB6_HUMAN	integrin, beta 6	419					cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						TTCACAGTCACGCTGAAGGAA	0.478													17	43					0	0	1	0	0	T	160994350	C	T	160994350	3	4	242	1	0	0	0	0	1	0	0	0	7943	536	19	1	1135	1	ITGB6	2	160994350	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	3808038	160994350	82205023	163	11777											
GRB14	2888	broad.mit.edu	37	chr2	165476321	165476321	+	Frame_Shift_Del	DEL	T	T	-																															ccggaacatcaagatctttcTtttttctcctacagtaagag																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:165476321delT	ENST00000263915.3	-	2	738	c.200delA	c.(199-201)agfs	p.K68fs		NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	68					blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity	p.K67M(1)		breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						AAGATCTTTCTTTTTTCTCCT	0.368													15	51	---	---	---	---						-	165476321	T	-	165476321	7	5	242	1	0	1	0	1	0	0	0	0	6798	1609	56	0	1474	0	GRB14	2	165476321	Frame_Shift_Del	DEL	T	TCGA-KK-A59V-01A-11D-A29Q-08	4481971	165476321	77723052	164	11778											
SCN1A	6323	broad.mit.edu	37	chr2	166894441	166894441	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtcattcatgtgccagcGtgggagttgacaatcactgg	10	10	13	8	1	3	1	3	1	0	0	3	3	3	2	1	2	2	1	1	2	2	2	rs121918788		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:166894441G>A	ENST00000423058.2	-	15	2808	c.2791C>T	c.(2791-2793)Cgc>Tgc	p.R931C	SCN1A_ENST00000409050.1_Missense_Mutation_p.R903C|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.R920C|SCN1A_ENST00000303395.4_Missense_Mutation_p.R931C|AC010127.3_ENST00000595268.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	931			R -> C (in SMEI; dbSNP:rs121918788).			voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	ATGTGCCAGCGTGGGAGTTGA	0.512													61	152					0	0	1	0	0	A	166894441	G	A	166894441	3	1	242	1	0	0	0	0	1	0	0	0	13968	1145	40	1	3286	1	SCN1A	2	166894441	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1418120	166894441	76304932	165	11779											
XIRP2	129446	broad.mit.edu	37	chr2	168067347	168067347	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtggtctccctgaaggagcGgatggcgaggtaccaggcag	9	6	17	9	2	1	1	0	1	1	0	2	4	1	3	2	6	2	2	2	6	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:168067347G>A	ENST00000409195.1	+	4	754	c.665G>A	c.(664-666)cGg>cAg	p.R222Q	XIRP2_ENST00000409043.1_Missense_Mutation_p.R222Q|XIRP2_ENST00000295237.9_Missense_Mutation_p.R222Q|XIRP2_ENST00000409756.2_Missense_Mutation_p.R222Q|XIRP2_ENST00000409273.1_5'UTR|XIRP2_ENST00000420519.1_Missense_Mutation_p.R255Q|XIRP2_ENST00000409728.1_Missense_Mutation_p.R255Q|XIRP2_ENST00000409605.1_5'UTR	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	47					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CTGAAGGAGCGGATGGCGAGG	0.557													44	116					0	0	1	0	0	A	168067347	G	A	168067347	3	1	242	1	0	0	0	0	1	0	0	0	17490	1116	39	1	675	1	XIRP2	2	168067347	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1172906	168067347	75132026	166	11780											
LRP2	4036	broad.mit.edu	37	chr2	170099968	170099968	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgtcaccatcacagacaaaCgataggtcaatacatcgatg	15	9	7	10	2	3	1	3	0	0	1	4	3	3	1	1	1	2	0	1	1	4	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:170099968C>T	ENST00000263816.3	-	23	3780	c.3495G>A	c.(3493-3495)tcG>tcA	p.S1165S	LRP2_ENST00000443831.1_Silent_p.S1028S	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1165	LDL-receptor class A 11.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CACAGACAAACGATAGGTCAA	0.373													27	98					0	0	1	0	0	T	170099968	C	T	170099968	2	4	242	1	0	0	0	0	0	0	0	1	9001	523	19	1		1	LRP2	2	170099968	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	2032621	170099968	73099405	167	11781											
HOXD10	3236	broad.mit.edu	37	chr2	176983939	176983939	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accggatccgagaactgaccGccaacctcacgttttcttag	10	9	8	14	4	2	2	1	1	1	1	3	4	3	3	5	1	2	1	5	1	3	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:176983939G>A	ENST00000249501.4	+	2	1258	c.1003G>A	c.(1003-1005)Gcc>Acc	p.A335T	HOXD10_ENST00000490088.2_3'UTR	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	335						nucleus	sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		AGAACTGACCGCCAACCTCAC	0.577													17	44					0	0	1	0	0	A	176983939	G	A	176983939	3	1	242	1	0	0	0	0	1	0	0	0	7360	1087	38	1	1009	1	HOXD10	2	176983939	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	6883971	176983939	66215434	168	11782											
TTN	7273	broad.mit.edu	37	chr2	179399405	179399406	+	Frame_Shift_Ins	INS	-	-	G																															cttcaggtgcatagtattctINSggggcagtgaatagaagcct																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:179399405_179399406insG	ENST00000589042.1	-	358	102160_102161	c.101936_101937insC	c.(101935-101937)cgafs	p.R33979fs	TTN_ENST00000342992.6_Frame_Shift_Ins_p.R31411fs|TTN_ENST00000342175.6_Frame_Shift_Ins_p.R25106fs|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Ins_p.R24914fs|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Ins_p.R25039fs|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Ins_p.R32338fs|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32338	Ig-like 150.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATAGTATTCTGGGGCAGTGAA	0.45													8	69	---	---	---	---						G	179399406	-	G	179399405	7	5	242	1	0	1	1	0	0	0	0	0	16797	1567	55	0	6062	0	TTN	2	179399405	Frame_Shift_Ins	INS	-	TCGA-KK-A59V-01A-11D-A29Q-08	2415466	179399405	63799968	169	11783											
TTN	7273	broad.mit.edu	37	chr2	179401235	179401235	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccatcactggcaggtggcttCcaggccacaacacaagaatc	12	6	9	14	0	1	1	1	0	0	1	3	1	2	1	3	4	1	2	3	4	3	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:179401235C>A	ENST00000589042.1	-	357	100463	c.100239G>T	c.(100237-100239)tgG>tgT	p.W33413C	TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.W24348C|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.W30845C|TTN_ENST00000342175.6_Missense_Mutation_p.W24540C|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.W31772C|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.W24473C|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31772							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGGTGGCTTCCAGGCCACAA	0.403													5	74					8.12818e-05	8.30472e-05	1	1	0	A	179401235	C	A	179401235	3	1	242	1	0	0	0	0	1	0	0	0	16797	856	30	4	7764	4	TTN	2	179401235	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1830	179401235	63798138	170	11784											
TTN	7273	broad.mit.edu	37	chr2	179412307	179412307	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctgttgtacccgattcaCgcttttcaactatgtaatta	11	15	6	9	2	2	0	2	0	0	0	2	1	2	0	1	0	3	5	1	0	6	8			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:179412307C>T	ENST00000589042.1	-	339	94270	c.94046G>A	c.(94045-94047)cGt>cAt	p.R31349H	TTN_ENST00000460472.2_Missense_Mutation_p.R22284H|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R28781H|TTN_ENST00000342175.6_Missense_Mutation_p.R22476H|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R29708H|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R22409H|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29708	Fibronectin type-III 128.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCCGATTCACGCTTTTCAAC	0.423													24	61					0	0	1	0	0	T	179412307	C	T	179412307	3	4	242	1	0	0	0	0	1	0	0	0	16797	536	19	1	14029	1	TTN	2	179412307	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	11072	179412307	63787066	171	11785											
TTN	7273	broad.mit.edu	37	chr2	179447832	179447833	+	Frame_Shift_Ins	INS	-	-	T																															ggttttagcagtgtgccatcINSttttttccaagaaactgttg																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:179447832_179447833insT	ENST00000589042.1	-	313	65921_65922	c.65697_65698insA	c.(65695-65700)aaatggfs	p.W21900fs	TTN_ENST00000342992.6_Frame_Shift_Ins_p.W19332fs|TTN_ENST00000342175.6_Frame_Shift_Ins_p.W13027fs|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Ins_p.W12835fs|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Ins_p.W12960fs|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Ins_p.W20259fs|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20259	Fibronectin type-III 59.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.D12960fs*40(1)|p.D12835fs*40(1)|p.D13027fs*40(1)|p.D19330fs*40(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTGTGCCATCTTTTTTCCAAG	0.46													9	21	---	---	---	---						T	179447833	-	T	179447832	7	5	242	1	0	1	1	0	0	0	0	0	16797	913	32	0	42481	0	TTN	2	179447832	Frame_Shift_Ins	INS	-	TCGA-KK-A59V-01A-11D-A29Q-08	35525	179447832	63751541	172	11786											
TTN	7273	broad.mit.edu	37	chr2	179481223	179481223	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactttagtccatgttttccGgctgacttctcgtttttcaa	6	18	6	11	2	2	1	1	1	1	0	5	1	4	1	2	1	0	3	2	1	2	7			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:179481223G>A	ENST00000589042.1	-	257	48519	c.48295C>T	c.(48295-48297)Cgg>Tgg	p.R16099W	TTN_ENST00000460472.2_Missense_Mutation_p.R7034W|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R13531W|TTN_ENST00000342175.6_Missense_Mutation_p.R7226W|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R14458W|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R7159W|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14458	Ig-like 99.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATGTTTTCCGGCTGACTTCT	0.433													5	149					0	0	1	0	0	A	179481223	G	A	179481223	3	1	242	1	0	0	0	0	1	0	0	0	16797	1115	39	1	59822	1	TTN	2	179481223	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	33391	179481223	63718150	173	11787											
TTN	7273	broad.mit.edu	37	chr2	179501179	179501179	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgtttcccaaacgtaaaaCacaggtgtattcaccagcat	13	12	6	10	1	1	0	1	0	0	0	2	0	2	0	2	1	3	4	2	1	4	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:179501179C>T	ENST00000589042.1	-	225	41499	c.41275G>A	c.(41275-41277)Gtt>Att	p.V13759I	TTN_ENST00000460472.2_Missense_Mutation_p.V4694I|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V11191I|TTN_ENST00000342175.6_Missense_Mutation_p.V4886I|TTN_ENST00000591111.1_Missense_Mutation_p.V12118I|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V4819I|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12118	Ig-like 94.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAACGTAAAACACAGGTGTAT	0.378													6	51					0	0	1	0	0	T	179501179	C	T	179501179	3	4	242	1	0	0	0	0	1	0	0	0	16797	478	17	2	66970	2	TTN	2	179501179	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	19956	179501179	63698194	174	11788											
TTN	7273	broad.mit.edu	37	chr2	179638572	179638573	+	Frame_Shift_Del	DEL	AG	AG	-																															aattaggactcactatagacAgagacacgcccactggtgga																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:179638572_179638573delAG	ENST00000589042.1	-	31	7546_7547	c.7322_7323delCT	c.(7321-7323)tfs	p.S2441fs	TTN_ENST00000342992.6_Frame_Shift_Del_p.S2441fs|TTN_ENST00000342175.6_Frame_Shift_Del_p.S2395fs|TTN_ENST00000460472.2_Frame_Shift_Del_p.S2395fs|TTN_ENST00000359218.5_Frame_Shift_Del_p.S2395fs|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000360870.5_Frame_Shift_Del_p.S2441fs|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Del_p.S2441fs	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2167	Ig-like 13.|Ig-like 14.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACTATAGACAGAGACACGCCC	0.381													15	69	---	---	---	---						-	179638573	AG	-	179638572	7	5	242	1	0	1	0	1	0	0	0	0	16797	175	7	0	103993	0	TTN	2	179638572	Frame_Shift_Del	DEL	AG	TCGA-KK-A59V-01A-11D-A29Q-08	137393	179638572	63560801	175	11789											
DNAJC10	54431	broad.mit.edu	37	chr2	183582840	183582840	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctggttaaataaagatgaCtatatcagagacttgaaaag	17	11	9	4	0	2	4	1	2	1	2	2	5	2	4	0	1	0	1	0	1	8	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:183582840C>A	ENST00000264065.6	+	3	442	c.27C>A	c.(25-27)gaC>gaA	p.D9E	DNAJC10_ENST00000537515.1_Missense_Mutation_p.D9E|DNAJC10_ENST00000469118.1_Intron	NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	9					apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			ATAAAGATGACTATATCAGAG	0.353													18	48					2.4624e-09	2.54714e-09	1	1	0	A	183582840	C	A	183582840	3	1	242	1	0	0	0	0	1	0	0	0	4656	564	20	4	29	4	DNAJC10	2	183582840	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	3944268	183582840	59616533	176	11790											
ITGAV	3685	broad.mit.edu	37	chr2	187521085	187521085	+	Frame_Shift_Del	DEL	G	G	-																															caagaacatgactatttcaaGggggggactgatgcagtgtg																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:187521085delG	ENST00000261023.3	+	17	1950	c.1676delG	c.(1675-1677)agfs	p.R559fs	AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000374907.3_Frame_Shift_Del_p.R523fs|ITGAV_ENST00000433736.2_Frame_Shift_Del_p.R513fs	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	integrin, alpha V	559					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		ACTATTTCAAGGGGGGGACTG	0.428													67	179	---	---	---	---						-	187521085	G	-	187521085	7	5	242	1	0	1	0	1	0	0	0	0	7932	1000	35	0	1793	0	ITGAV	2	187521085	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	3938245	187521085	55678288	177	11791											
SPATS2L	26010	broad.mit.edu	37	chr2	201324531	201324531	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcattaatggcagaaatggaTaaagttaaagaagaagccag	19	8	10	4	0	1	3	1	0	0	3	1	4	1	4	1	2	1	2	1	2	8	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:201324531T>C	ENST00000409988.3	+	9	1351	c.828T>C	c.(826-828)gaT>gaC	p.D276D	SPATS2L_ENST00000409140.3_Silent_p.D276D|SPATS2L_ENST00000409151.1_Silent_p.D284D|SPATS2L_ENST00000451764.2_Silent_p.D276D|SPATS2L_ENST00000409755.3_Silent_p.D306D|SPATS2L_ENST00000360760.5_Silent_p.D207D|SPATS2L_ENST00000358677.4_Silent_p.D276D|SPATS2L_ENST00000409718.1_Silent_p.D276D|SPATS2L_ENST00000409385.1_Silent_p.D216D	NM_001100422.1	NP_001093892.1	Q9NUQ6	SPS2L_HUMAN	spermatogenesis associated, serine-rich 2-like	276						cytoplasm|nucleolus				endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						CAGAAATGGATAAAGTTAAAG	0.343													4	18					0	0	1	0	0	C	201324531	T	C	201324531	2	2	242	1	0	0	0	0	0	0	0	1	15076	1403	49	3		3	SPATS2L	2	201324531	Silent	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	13803446	201324531	41874842	178	11792											
SPATS2L	26010	broad.mit.edu	37	chr2	201337651	201337651	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacctctgggaaacagagtaActtttcccgaaaatcatcca	15	9	6	11	1	2	1	1	0	1	1	4	3	4	2	3	1	3	1	3	1	5	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:201337651A>G	ENST00000409988.3	+	12	1680	c.1157A>G	c.(1156-1158)aAc>aGc	p.N386S	SPATS2L_ENST00000409140.3_Missense_Mutation_p.N386S|SPATS2L_ENST00000409718.1_Missense_Mutation_p.N386S|SPATS2L_ENST00000360760.5_Missense_Mutation_p.N317S|SPATS2L_ENST00000358677.4_Missense_Mutation_p.N386S|SPATS2L_ENST00000409151.1_Missense_Mutation_p.N394S|SPATS2L_ENST00000460095.1_3'UTR|SPATS2L_ENST00000451764.2_Missense_Mutation_p.N386S|SPATS2L_ENST00000409385.1_Missense_Mutation_p.N326S|SPATS2L_ENST00000409755.3_Missense_Mutation_p.N416S	NM_001100422.1	NP_001093892.1	Q9NUQ6	SPS2L_HUMAN	spermatogenesis associated, serine-rich 2-like	386						cytoplasm|nucleolus				endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						AAACAGAGTAACTTTTCCCGA	0.532													18	72					0	0	1	0	0	G	201337651	A	G	201337651	3	3	242	1	0	0	0	0	1	0	0	0	15076	43	2	3	1195	3	SPATS2L	2	201337651	Missense_Mutation	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	13120	201337651	41861722	179	11793											
TRAK2	66008	broad.mit.edu	37	chr2	202245769	202245769	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactttggcagagatgcctcGctcttgtagaagtttggcca	8	12	11	10	1	1	2	0	0	1	2	2	3	1	2	2	2	1	4	2	2	2	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:202245769G>A	ENST00000332624.3	-	16	2670	c.2242C>T	c.(2242-2244)Cga>Tga	p.R748*		NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	748				Missing (in Ref. 2).		early endosome|plasma membrane	GABA receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						GAGATGCCTCGCTCTTGTAGA	0.512													50	162					0	0	1	0	0	A	202245769	G	A	202245769	4	1	242	1	0	0	0	0	0	1	0	0	16511	1095	38	1	506	1	TRAK2	2	202245769	Nonsense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	908118	202245769	40953604	180	11794											
EEF1B2	1933	broad.mit.edu	37	chr2	207025333	207025333	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgtgccatcacaagcagaTgtggcagtatttgaagccgt	11	11	11	8	1	1	2	1	1	0	1	1	2	1	2	2	1	3	3	2	1	4	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:207025333T>C	ENST00000392222.2	+	2	477	c.102T>C	c.(100-102)gaT>gaC	p.D34D	EEF1B2_ENST00000392221.1_Silent_p.D34D|EEF1B2_ENST00000236957.5_Silent_p.D34D	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	34	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CACAAGCAGATGTGGCAGTAT	0.458													20	60					0	0	1	0	0	C	207025333	T	C	207025333	2	2	242	1	0	0	0	0	0	0	0	1	4951	1461	51	3		3	EEF1B2	2	207025333	Silent	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	4779564	207025333	36174040	181	11795											
ADAM23	8745	broad.mit.edu	37	chr2	207425854	207425854	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcactgctttttcttaaggcGggtgacatttcactataaga	10	14	9	8	1	2	2	1	1	1	1	2	2	2	2	0	2	1	2	0	2	3	6			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:207425854G>A	ENST00000264377.3	+	12	1500	c.1172G>A	c.(1171-1173)cGg>cAg	p.R391Q	ADAM23_ENST00000374416.1_Missense_Mutation_p.R391Q|ADAM23_ENST00000374415.3_Missense_Mutation_p.R391Q	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	391	Peptidase M12B.				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		TTCTTAAGGCGGGTGACATTT	0.428													3	54					0	0	1	0	0	A	207425854	G	A	207425854	3	1	242	1	0	0	0	0	1	0	0	0	244	1116	39	1	1218	1	ADAM23	2	207425854	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	400521	207425854	35773519	182	11796											
PLCD4	84812	broad.mit.edu	37	chr2	219494309	219494309	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacctagcggggaacctgtcGtttaccacggacacaccctg	9	7	11	14	3	0	0	0	0	0	0	1	3	0	2	4	3	3	1	4	3	3	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:219494309G>A	ENST00000450993.2	+	8	1381	c.1042G>A	c.(1042-1044)Gtt>Att	p.V348I	PLCD4_ENST00000432688.1_Missense_Mutation_p.V348I|PLCD4_ENST00000417849.1_Missense_Mutation_p.V348I	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	348	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GGAACCTGTCGTTTACCACGG	0.592													12	35					0	0	1	0	0	A	219494309	G	A	219494309	3	1	242	1	0	0	0	0	1	0	0	0	12081	1145	40	1	1068	1	PLCD4	2	219494309	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	12068455	219494309	23705064	183	11797											
BCS1L	617	broad.mit.edu	37	chr2	219525928	219525928	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctcacccgccacagtacccGtactcagcacctcagtgtcg	8	7	8	18	3	3	0	3	0	0	0	4	0	3	0	4	0	3	4	4	0	2	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:219525928G>A	ENST00000431802.1	+	2	917	c.218G>A	c.(217-219)cGt>cAt	p.R73H	BCS1L_ENST00000412366.1_Missense_Mutation_p.R73H|BCS1L_ENST00000359273.3_Missense_Mutation_p.R73H|BCS1L_ENST00000439945.1_Missense_Mutation_p.R73H|BCS1L_ENST00000392110.2_Missense_Mutation_p.R73H|BCS1L_ENST00000392111.2_Missense_Mutation_p.R73H|BCS1L_ENST00000392109.1_Missense_Mutation_p.R73H			Q9Y276	BCS1_HUMAN	BC1 (ubiquinol-cytochrome c reductase) synthesis-like	73			R -> C (in MT-C3D).		mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain complex III	ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CACAGTACCCGTACTCAGCAC	0.537													6	159					0	0	1	0	0	A	219525928	G	A	219525928	3	1	242	1	0	0	0	0	1	0	0	0	1387	1145	40	1	220	1	BCS1L	2	219525928	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	31619	219525928	23673445	184	11798											
WNT6	7475	broad.mit.edu	37	chr2	219736335	219736335	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgcgggcgggcccctcccCggccctccggcctgcccggc	0	3	14	24	6	0	0	0	0	0	0	2	0	2	0	9	5	1	0	9	5	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:219736335C>T	ENST00000233948.3	+	3	647	c.430C>T	c.(430-432)Cgg>Tgg	p.R144W	WNT6_ENST00000486233.1_3'UTR	NM_006522.3	NP_006513.1	Q9Y6F9	WNT6_HUMAN	wingless-type MMTV integration site family, member 6	144					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			large_intestine(1)|ovary(2)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ggcccctccccggccctccgg	0.796													4	14					0	0	1	0	0	T	219736335	C	T	219736335	3	4	242	1	0	0	0	0	1	0	0	0	17453	643	23	1	440	1	WNT6	2	219736335	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	210407	219736335	23463038	185	11799											
CCDC108	255101	broad.mit.edu	37	chr2	219868892	219868893	+	Frame_Shift_Del	DEL	CT	CT	-																															tctgtctcctcttcttcctcCtcttcctcctccaactcttc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:219868892_219868893delCT	ENST00000341552.5	-	33	5419_5420	c.5336_5337delAG	c.(5335-5337)gfs	p.E1784fs	CCDC108_ENST00000453220.1_Frame_Shift_Del_p.E1784fs|CCDC108_ENST00000441968.1_Frame_Shift_Del_p.E1784fs|AC097468.4_ENST00000441450.1_RNA	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1784	Glu-rich.					integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		cttcttcctcctcttcctcctc	0.545													30	67	---	---	---	---						-	219868893	CT	-	219868892	7	5	242	1	0	1	0	1	0	0	0	0	2761	680	24	0	452	0	CCDC108	2	219868892	Frame_Shift_Del	DEL	CT	TCGA-KK-A59V-01A-11D-A29Q-08	132557	219868892	23330481	186	11800											
FARSB	10056	broad.mit.edu	37	chr2	223489482	223489482	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctctcaccatctcctttcGgtaagctaattccttaaata	11	14	4	12	1	2	0	1	0	2	0	6	0	3	0	3	1	2	3	3	1	5	6			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:223489482G>A	ENST00000281828.6	-	11	1176	c.913C>T	c.(913-915)Cga>Tga	p.R305*	FARSB_ENST00000536361.1_Nonsense_Mutation_p.R206*	NM_005687.3	NP_005678.3	Q9NSD9	SYFB_HUMAN	phenylalanyl-tRNA synthetase, beta subunit	305	B5.				phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	ATCTCCTTTCGGTAAGCTAAT	0.328													7	11					0	0	1	0	0	A	223489482	G	A	223489482	4	1	242	1	0	0	0	0	0	1	0	0	5713	1124	39	1	884	1	FARSB	2	223489482	Nonsense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	3620590	223489482	19709891	187	11801											
SERPINE2	5270	broad.mit.edu	37	chr2	224849604	224849604	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgcaatcagcatgctgatgCtttccccgtggtagggcagt	7	11	13	10	1	1	1	1	1	0	0	2	1	2	1	2	2	4	6	2	2	2	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:224849604C>T	ENST00000409840.3	-	6	1409	c.749G>A	c.(748-750)aGc>aAc	p.S250N	SERPINE2_ENST00000258405.4_Missense_Mutation_p.S250N|SERPINE2_ENST00000447280.2_Missense_Mutation_p.S262N|SERPINE2_ENST00000409304.1_Missense_Mutation_p.S250N			P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	250					negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		CATGCTGATGCTTTCCCCGTG	0.502													15	47					0	0	1	0	0	T	224849604	C	T	224849604	3	4	242	1	0	0	0	0	1	0	0	0	14166	797	28	2	467	2	SERPINE2	2	224849604	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1360122	224849604	18349769	188	11802											
ITM2C	81618	broad.mit.edu	37	chr2	231742222	231742222	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcatctaccacctgtgcaaCgggaaagacacctaccggct	11	8	8	14	2	2	1	1	0	1	1	2	2	2	2	4	2	4	2	4	2	4	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:231742222C>T	ENST00000326427.6	+	5	795	c.669C>T	c.(667-669)aaC>aaT	p.N223N	ITM2C_ENST00000335005.6_Silent_p.N176N|ITM2C_ENST00000409704.2_Silent_p.N161N|ITM2C_ENST00000326407.6_Silent_p.N186N	NM_030926.4	NP_112188.1	Q9NQX7	ITM2C_HUMAN	integral membrane protein 2C	223	BRICHOS.				negative regulation of neuron projection development|neuron differentiation	Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	beta-amyloid binding			cervix(2)|lung(1)|ovary(1)|skin(1)	5		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		ACCTGTGCAACGGGAAAGACA	0.627													30	85					0	0	1	0	0	T	231742222	C	T	231742222	2	4	242	1	0	0	0	0	0	0	0	1	7958	535	19	1		1	ITM2C	2	231742222	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	6892618	231742222	11457151	189	11803											
PSMD1	5707	broad.mit.edu	37	chr2	231927025	231927025	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggcagaaatttccgagtccGtagacaaaatgtaagaaatt	16	9	10	6	2	0	3	0	0	0	3	2	4	2	3	2	1	0	3	2	1	6	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:231927025G>A	ENST00000308696.6	+	3	286	c.124G>A	c.(124-126)Gta>Ata	p.V42I	PSMD1_ENST00000373635.4_Missense_Mutation_p.V42I|PSMD1_ENST00000409643.1_Missense_Mutation_p.V42I	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	42					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	p.V42fs*1(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	TTCCGAGTCCGTAGACAAAAT	0.303													9	16					0	0	1	0	0	A	231927025	G	A	231927025	3	1	242	1	0	0	0	0	1	0	0	0	12741	1145	40	1	134	1	PSMD1	2	231927025	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	184803	231927025	11272348	190	11804											
NMUR1	10316	broad.mit.edu	37	chr2	232389804	232389804	+	Frame_Shift_Del	DEL	G	G	-																															tgggccatcgttcccagccaGggggtggacccagctgccca																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:232389804delG	ENST00000305141.4	-	3	1364	c.1231delC	c.(1231-1233)tgfs	p.L411fs		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	411					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		TTCCCAGCCAGGGGGTGGACC	0.652													8	84	---	---	---	---						-	232389804	G	-	232389804	7	5	242	1	0	1	0	1	0	0	0	0	10553	991	35	0	53	0	NMUR1	2	232389804	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	462779	232389804	10809569	191	11805											
GIGYF2	26058	broad.mit.edu	37	chr2	233621023	233621023	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggtgggggctcctagaggtCgaagttcttcaagagggcga	8	9	17	7	2	2	2	1	0	1	2	4	4	3	2	1	5	0	2	1	5	3	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:233621023C>T	ENST00000373566.3	+	6	555	c.358C>T	c.(358-360)Cga>Tga	p.R120*	GIGYF2_ENST00000409480.1_Nonsense_Mutation_p.R120*|GIGYF2_ENST00000409547.1_Nonsense_Mutation_p.R120*|GIGYF2_ENST00000409451.3_Nonsense_Mutation_p.R120*|GIGYF2_ENST00000409196.3_Nonsense_Mutation_p.R120*|GIGYF2_ENST00000373563.4_Nonsense_Mutation_p.R120*			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	120	Arg-rich.				cell death		protein binding	p.R120R(2)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TCCTAGAGGTCGAAGTTCTTC	0.443													9	32					0	0	1	0	0	T	233621023	C	T	233621023	4	4	242	1	0	0	0	0	0	1	0	0	6420	876	31	1	372	1	GIGYF2	2	233621023	Nonsense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1231219	233621023	9578350	192	11806											
INPP5D	3635	broad.mit.edu	37	chr2	233990478	233990478	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaagtgtcgtgtctccacccGagctgcccccaagaaacatc	11	7	8	15	2	1	1	0	0	1	1	4	2	1	1	4	0	3	1	4	0	3	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:233990478G>A	ENST00000359570.5	+	4	373	c.373G>A	c.(373-375)Gag>Aag	p.E125K	INPP5D_ENST00000474278.1_3'UTR|INPP5D_ENST00000538935.1_Missense_Mutation_p.E125K			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	125					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		GTCTCCACCCGAGCTGCCCCC	0.612													5	23					0	0	1	0	0	A	233990478	G	A	233990478	3	1	242	1	0	0	0	0	1	0	0	0	7800	1059	37	1	387	1	INPP5D	2	233990478	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	369455	233990478	9208895	193	11807											
GPC1	2817	broad.mit.edu	37	chr2	241401916	241401916	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccccgagagagctgcgcctgCgggccacccgtgccttcgtg	4	6	14	17	5	0	1	0	0	0	1	1	3	0	1	6	1	4	1	6	1	0	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:241401916C>T	ENST00000264039.2	+	3	882	c.634C>T	c.(634-636)Cgg>Tgg	p.R212W		NM_002081.2	NP_002072.2	P35052	GPC1_HUMAN	glypican 1	212					axon guidance	anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	9		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)		GCTGCGCCTGCGGGCCACCCG	0.711													12	26					0	0	1	0	0	T	241401916	C	T	241401916	3	4	242	1	0	0	0	0	1	0	0	0	6637	759	27	1	644	1	GPC1	2	241401916	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	7411438	241401916	1797457	194	11808											
GPC1	2817	broad.mit.edu	37	chr2	241402907	241402907	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaaccaggccgacctggaCgccgagtggaggaacctcct	9	4	13	15	3	0	0	0	0	0	0	1	5	1	3	7	4	2	0	7	4	2	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:241402907C>T	ENST00000264039.2	+	4	1109	c.861C>T	c.(859-861)gaC>gaT	p.D287D		NM_002081.2	NP_002072.2	P35052	GPC1_HUMAN	glypican 1	287					axon guidance	anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	9		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)		CCGACCTGGACGCCGAGTGGA	0.682													22	55					0	0	1	0	0	T	241402907	C	T	241402907	2	4	242	1	0	0	0	0	0	0	0	1	6637	535	19	1		1	GPC1	2	241402907	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	991	241402907	1796466	195	11809											
GPR35	2859	broad.mit.edu	37	chr2	241569781	241569781	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggctgcggccgtgtgcGcggtcctctgggtgctggtc	1	9	19	12	4	1	0	0	0	1	0	3	0	2	0	2	6	3	3	2	6	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:241569781G>A	ENST00000319838.5	+	6	1354	c.412G>A	c.(412-414)Gcg>Acg	p.A138T	GPR35_ENST00000430267.1_Missense_Mutation_p.A138T|GPR35_ENST00000403859.1_Missense_Mutation_p.A138T|GPR35_ENST00000407714.1_Missense_Mutation_p.A138T|GPR35_ENST00000438013.2_Missense_Mutation_p.A169T	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	138						integral to plasma membrane	G-protein coupled receptor activity	p.A138T(1)		NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		GGCCGTGTGCGCGGTCCTCTG	0.706													4	57					0	0	1	0	0	A	241569781	G	A	241569781	3	1	242	1	0	0	0	0	1	0	0	0	6730	1087	38	1	414	1	GPR35	2	241569781	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	166874	241569781	1629592	196	11810											
KIF1A	547	broad.mit.edu	37	chr2	241737144	241737144	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggggcggacccgcaccGccaccttcaccgaagccccg	8	3	12	18	5	1	1	1	1	0	0	1	3	1	2	7	3	1	1	7	3	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr2:241737144G>A	ENST00000498729.2	-	2	272	c.26C>T	c.(25-27)gCg>gTg	p.A9V	KIF1A_ENST00000320389.7_Missense_Mutation_p.A9V	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	9	Kinesin-motor.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GACCCGCACCGCCACCTTCAC	0.597													6	24					0	0	1	0	0	A	241737144	G	A	241737144	3	1	242	1	0	0	0	0	1	0	0	0	8325	1087	38	1	5230	1	KIF1A	2	241737144	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	167363	241737144	1462229	197	11811											
SLC6A1	6529	broad.mit.edu	37	chr3	11067934	11067934	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcagggactccatcatcGtctgctgcatcaattcgtgc	7	13	8	13	2	5	0	3	0	2	0	8	1	6	1	1	1	3	2	1	1	1	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:11067934G>A	ENST00000287766.4	+	10	1388	c.967G>A	c.(967-969)Gtc>Atc	p.V323I	SLC6A1_ENST00000536032.1_Missense_Mutation_p.V145I	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	323					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	CTCCATCATCGTCTGCTGCAT	0.582													54	137					0	0	1	0	0	A	11067934	G	A	11067934	3	1	242	1	0	0	0	0	1	0	0	0	14728	1145	40	1	997	1	SLC6A1	3	11067934	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08		11067934	186954496	198	11812											
CAND2	23066	broad.mit.edu	37	chr3	12856694	12856694	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctggaaggtgcgccgggCagctgccaagtgcatcgcag	8	5	17	11	3	0	0	0	0	0	0	1	2	0	1	2	3	5	5	2	3	2	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:12856694C>T	ENST00000456430.2	+	8	1102	c.1061C>T	c.(1060-1062)gCa>gTa	p.A354V	CAND2_ENST00000295989.5_Missense_Mutation_p.A261V	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	354					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GTGCGCCGGGCAGCTGCCAAG	0.597													19	49					0	0	1	0	0	T	12856694	C	T	12856694	3	4	242	1	0	0	0	0	1	0	0	0	2634	710	25	2	1091	2	CAND2	3	12856694	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1788760	12856694	185165736	199	11813											
IQSEC1	9922	broad.mit.edu	37	chr3	12977620	12977620	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgagaggggcagagggggcGacagctcctcctcatcgatg	8	5	17	11	3	1	2	1	0	0	2	4	5	3	2	2	4	1	2	2	4	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:12977620G>A	ENST00000273221.4	-	3	1154	c.938C>T	c.(937-939)tCg>tTg	p.S313L		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	313					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CAGAGGGGGCGACAGCTCCTC	0.677													45	93					0	0	1	0	0	A	12977620	G	A	12977620	3	1	242	1	0	0	0	0	1	0	0	0	7861	1059	37	1	2546	1	IQSEC1	3	12977620	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	120926	12977620	185044810	200	11814											
SCN10A	6336	broad.mit.edu	37	chr3	38755531	38755531	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgatgggagccacttcaGaatattccagaatcttcgct	10	13	8	10	1	2	3	1	1	1	2	4	4	3	4	2	1	1	1	2	1	3	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:38755531G>T	ENST00000449082.2	-	21	3721	c.3722C>A	c.(3721-3723)tCt>tAt	p.S1241Y		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1241					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	AGCCACTTCAGAATATTCCAG	0.512													6	111					0.0215528	0.0217133	1	1	0	T	38755531	G	T	38755531	3	4	242	1	0	0	0	0	1	0	0	0	13966	942	33	4	2176	4	SCN10A	3	38755531	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	25777911	38755531	159266899	201	11815											
CCR8	1237	broad.mit.edu	37	chr3	39373861	39373861	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagtgtgacaacagtgacCgactactactaccctgatat	12	10	7	12	1	1	3	1	3	0	0	1	4	1	3	2	0	4	0	2	0	5	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:39373861C>T	ENST00000326306.4	+	2	177	c.39C>T	c.(37-39)acC>acT	p.T13T	CCR8_ENST00000545843.1_5'UTR|CCR8_ENST00000414803.1_Silent_p.T13T	NM_005201.3	NP_005192.1	P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	13					cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity			NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		CAACAGTGACCGACTACTACT	0.438													36	96					0	0	1	0	0	T	39373861	C	T	39373861	2	4	242	1	0	0	0	0	0	0	0	1	2969	639	23	1		1	CCR8	3	39373861	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	618330	39373861	158648569	202	11816											
VIPR1	7433	broad.mit.edu	37	chr3	42572369	42572369	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctgtacaccctgcttgcCgtctccttcttctctgagcg	4	14	7	16	2	3	1	0	1	3	0	5	1	3	1	4	0	5	2	4	0	2	5	rs142317327		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:42572369C>T	ENST00000438259.2	+	4	511	c.125C>T	c.(124-126)cCg>cTg	p.P42L	VIPR1-AS1_ENST00000452639.2_RNA|VIPR1_ENST00000325123.4_Silent_p.A245A|VIPR1_ENST00000433647.1_Silent_p.A204A|VIPR1-AS1_ENST00000602176.1_RNA|VIPR1-AS1_ENST00000601312.1_RNA|VIPR1-AS1_ENST00000600342.1_RNA|VIPR1-AS1_ENST00000596630.1_RNA|VIPR1-AS1_ENST00000598837.1_RNA|VIPR1-AS1_ENST00000593611.1_RNA|VIPR1-AS1_ENST00000593621.1_RNA|VIPR1_ENST00000543411.1_Silent_p.A197A	NM_001251883.1	NP_001238812.1	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	0					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		CCCTGCTTGCCGTCTCCTTCT	0.562													9	105					0	0	1	0	0	T	42572369	C	T	42572369	3	4	242	1	0	0	0	0	1	0	0	0	17229	639	23	1	761	1	VIPR1	3	42572369	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	3198508	42572369	155450061	203	11817											
DHX30	22907	broad.mit.edu	37	chr3	47882577	47882577	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccgggaagaagaggaggacGaggaggaagagctagaagaa	17	1	19	4	2	0	5	0	0	0	5	0	11	0	10	1	5	1	1	1	5	6	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:47882577G>A	ENST00000446256.2	+	8	1032	c.460G>A	c.(460-462)Gag>Aag	p.E154K	DHX30_ENST00000457607.1_Missense_Mutation_p.E221K|DHX30_ENST00000445061.1_Missense_Mutation_p.E193K|DHX30_ENST00000348968.4_Missense_Mutation_p.E165K	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	193						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		AGAGGAGGACGAGGAGGAAGA	0.572													11	40					0	0	1	0	0	A	47882577	G	A	47882577	3	1	242	1	0	0	0	0	1	0	0	0	4532	1059	37	1	606	1	DHX30	3	47882577	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	5310208	47882577	150139853	204	11818											
PFKFB4	5210	broad.mit.edu	37	chr3	48559455	48559455	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcgtgttcacagcagccacGttcaggaatatggactccac	10	9	10	12	2	2	0	2	0	0	0	3	2	3	2	2	2	3	3	2	2	2	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:48559455G>A	ENST00000232375.3	-	13	1426	c.1314C>T	c.(1312-1314)aaC>aaT	p.N438N	PFKFB4_ENST00000541519.1_Silent_p.N404N|PFKFB4_ENST00000383734.2_Silent_p.N403N|PFKFB4_ENST00000536104.1_Silent_p.N427N|PFKFB4_ENST00000416568.1_Silent_p.N431N|PFKFB4_ENST00000490115.1_5'UTR	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4	438	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		CAGCAGCCACGTTCAGGAATA	0.557													17	64					0	0	1	0	0	A	48559455	G	A	48559455	2	1	242	1	0	0	0	0	0	0	0	1	11811	1136	40	1		1	PFKFB4	3	48559455	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	676878	48559455	149462975	205	11819											
COL7A1	1294	broad.mit.edu	37	chr3	48612934	48612935	+	Frame_Shift_Ins	INS	-	-	C																															ggccagggtctccacggtcgINScccttcagcccgcgttctcc																								rs121912842		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:48612934_48612935insC	ENST00000328333.8	-	73	6124_6125	c.6017_6018insG	c.(6016-6018)ggafs	p.G2006fs	COL7A1_ENST00000454817.1_Frame_Shift_Ins_p.G1974fs	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2006	Triple-helical region.		G -> A (in DDEB).|G -> D (in DDEB; interferes with collagen VII folding and secretion).		cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTCCACGGTCGCCCTTCAGCCC	0.688													14	40	---	---	---	---						C	48612935	-	C	48612934	7	5	242	1	0	1	1	0	0	0	0	0	3727	1074	38	0	3000	0	COL7A1	3	48612934	Frame_Shift_Ins	INS	-	TCGA-KK-A59V-01A-11D-A29Q-08	53479	48612934	149409496	206	11820											
SLC26A6	65010	broad.mit.edu	37	chr3	48670955	48670955	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctaggtgctgagccccagCgccccagctcctccaaatgc	7	7	9	18	1	0	1	0	1	0	0	3	1	3	1	7	1	5	2	7	1	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:48670955C>T	ENST00000358747.6	-	1	324	c.74G>A	c.(73-75)cGc>cAc	p.R25H	SLC26A6_ENST00000482282.1_5'UTR|SLC26A6_ENST00000455886.2_Missense_Mutation_p.R46H|SLC26A6_ENST00000383733.3_Missense_Mutation_p.R46H|SLC26A6_ENST00000395550.2_Missense_Mutation_p.R46H|SLC26A6_ENST00000420764.2_Missense_Mutation_p.R46H|SLC26A6_ENST00000337000.8_Missense_Mutation_p.R46H	NM_001040454.1	NP_001035544.1			solute carrier family 26 (anion exchanger), member 6										SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		TGAGCCCCAGCGCCCCAGCTC	0.652													43	98					0	0	1	0	0	T	48670955	C	T	48670955	3	4	242	1	0	0	0	0	1	0	0	0	14576	768	27	1	2258	1	SLC26A6	3	48670955	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	58021	48670955	149351475	207	11821											
NCKIPSD	51517	broad.mit.edu	37	chr3	48719968	48719968	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgtgacagggtctctttcCggtggtggatcagcttcctg	4	13	14	10	2	2	1	1	1	1	0	5	2	4	2	2	4	2	1	2	4	0	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:48719968C>T	ENST00000294129.2	-	3	418	c.299G>A	c.(298-300)cGg>cAg	p.R100Q	NCKIPSD_ENST00000341520.4_Missense_Mutation_p.R100Q|NCKIPSD_ENST00000416649.2_Missense_Mutation_p.R100Q	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain	100					cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGTCTCTTTCCGGTGGTGGAT	0.567													35	89					0	0	1	0	0	T	48719968	C	T	48719968	3	4	242	1	0	0	0	0	1	0	0	0	10272	652	23	1	1913	1	NCKIPSD	3	48719968	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	49013	48719968	149302462	208	11822											
APEH	327	broad.mit.edu	37	chr3	49712736	49712736	+	Frame_Shift_Del	DEL	G	G	-																															aggcaacagtgtggagacccGgggggagtaagtttgaggga																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:49712736delG	ENST00000296456.5	+	3	666	c.266delG	c.(265-267)cgfs	p.R89fs	APEH_ENST00000438011.1_Frame_Shift_Del_p.R89fs	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase	89					proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GTGGAGACCCGGGGGGAGTAA	0.562													9	21	---	---	---	---						-	49712736	G	-	49712736	7	5	242	1	0	1	0	1	0	0	0	0	764	1116	39	0	276	0	APEH	3	49712736	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	992768	49712736	148309694	209	11823											
AMIGO3	386724	broad.mit.edu	37	chr3	49756813	49756814	+	Frame_Shift_Ins	INS	-	-	G																															ggggcagttgtggagcgcacINSggggcgggaaaccctcggag																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:49756813_49756814insG	ENST00000535833.1	-	10	3535_3536	c.85_86insC	c.(85-87)tgcfs	p.C29fs	RNF123_ENST00000327697.6_Intron|RNF123_ENST00000497099.1_Intron|GMPPB_ENST00000480687.1_3'UTR|AMIGO3_ENST00000320431.7_Frame_Shift_Ins_p.C29fs|RNF123_ENST00000433785.1_Intron			Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	29	LRRNT.				heterophilic cell-cell adhesion	integral to membrane				endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GTGGAGCGCACGGGGCGGGAAA	0.653											OREG0015572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	114	---	---	---	---						G	49756814	-	G	49756813	7	5	242	1	0	1	1	0	0	0	0	0	573	536	19	0	1432	0	AMIGO3	3	49756813	Frame_Shift_Ins	INS	-	TCGA-KK-A59V-01A-11D-A29Q-08	44077	49756813	148265617	210	11824											
DOCK3	1795	broad.mit.edu	37	chr3	51378749	51378749	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaattcctccactacccatCgcagacagagtggcagcgga	11	6	11	13	2	0	2	0	0	0	2	3	4	2	4	3	3	2	2	3	3	2	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:51378749C>T	ENST00000266037.9	+	38	3871	c.3848C>T	c.(3847-3849)tCg>tTg	p.S1283L		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1283	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CACTACCCATCGCAGACAGAG	0.552													10	21					0	0	1	0	0	T	51378749	C	T	51378749	3	4	242	1	0	0	0	0	1	0	0	0	4715	893	31	1	3998	1	DOCK3	3	51378749	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1621936	51378749	146643681	211	11825											
PCBP4	57060	broad.mit.edu	37	chr3	51993254	51993254	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtggcttacctggcaccaCgctgggtgtggcaaagggga	7	7	18	9	1	0	0	0	0	0	0	0	1	0	1	2	7	1	4	2	7	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:51993254C>T	ENST00000461554.1	-	11	1022	c.691G>A	c.(691-693)Gtg>Atg	p.V231M	PCBP4_ENST00000322099.7_Missense_Mutation_p.V231M|PCBP4_ENST00000484633.1_Missense_Mutation_p.V188M|PCBP4_ENST00000395014.2_Missense_Mutation_p.V252M|PCBP4_ENST00000471622.1_Missense_Mutation_p.V231M|PCBP4_ENST00000355852.2_Missense_Mutation_p.V231M|PCBP4_ENST00000428823.2_Missense_Mutation_p.V188M|PCBP4_ENST00000395013.3_Missense_Mutation_p.V71M	NM_001174100.1	NP_001167571.1	P57723	PCBP4_HUMAN	poly(rC) binding protein 4	231						cytoplasm|ribonucleoprotein complex	DNA binding|RNA binding			endometrium(2)|large_intestine(2)|lung(2)|prostate(1)|stomach(1)	8				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CCTGGCACCACGCTGGGTGTG	0.627													19	60					0	0	1	0	0	T	51993254	C	T	51993254	3	4	242	1	0	0	0	0	1	0	0	0	11550	536	19	1	536	1	PCBP4	3	51993254	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	614505	51993254	146029176	212	11826											
CACNA1D	776	broad.mit.edu	37	chr3	53785896	53785896	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcgaatacatgatgtttGtcctcatcatgctcaacaca	11	14	5	11	1	3	1	3	1	0	0	5	2	4	1	1	0	3	2	1	0	3	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:53785896G>A	ENST00000288139.3	+	29	3815	c.3697G>A	c.(3697-3699)Gtc>Atc	p.V1233I	CACNA1D_ENST00000422281.2_Missense_Mutation_p.V1213I|CACNA1D_ENST00000540742.1_Missense_Mutation_p.V120I|CACNA1D_ENST00000350061.5_Missense_Mutation_p.V1213I	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1213					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CATGATGTTTGTCCTCATCAT	0.527													17	197					0	0	1	0	0	A	53785896	G	A	53785896	3	1	242	1	0	0	0	0	1	0	0	0	2559	1377	48	2	3919	2	CACNA1D	3	53785896	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1792642	53785896	144236534	213	11827											
CACNA1D	776	broad.mit.edu	37	chr3	53834368	53834370	+	In_Frame_Del	DEL	AGA	AGA	-																															gagcctgaggaaacaaaacgAgaagaagaagatgatgtgtt																								rs147973409	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:53834368_53834370delAGA	ENST00000288139.3	+	42	5194_5196	c.5076_5078delAGA	c.(5074-5079)cga>cg	p.RE1692del	CACNA1D_ENST00000350061.5_In_Frame_Del_p.RE1672del|CACNA1D_ENST00000544977.1_In_Frame_Del_p.RE51del|CACNA1D_ENST00000422281.2_In_Frame_Del_p.RE1657del	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1672					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	AAACAAAACGAGAAGAAGAAGAT	0.468													34	118	---	---	---	---						-	53834370	AGA	-	53834368	7	5	242	1	0	1	0	1	0	0	0	0	2559	291	11	0	5350	0	CACNA1D	3	53834368	In_Frame_Del	DEL	AGA	TCGA-KK-A59V-01A-11D-A29Q-08	48472	53834368	144188062	214	11828											
FLNB	2317	broad.mit.edu	37	chr3	58108882	58108882	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagcctgccgagttcaccatCgataccaaaggagctggtac	12	7	10	12	2	1	0	1	0	0	0	2	3	1	1	4	2	5	3	4	2	4	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:58108882C>T	ENST00000357272.4	+	21	3354	c.3189C>T	c.(3187-3189)atC>atT	p.I1063I	FLNB_ENST00000493452.1_Silent_p.I894I|FLNB_ENST00000490882.1_Silent_p.I1063I|FLNB_ENST00000358537.3_Silent_p.I1063I|FLNB_ENST00000295956.4_Silent_p.I1063I|FLNB_ENST00000419752.2_Silent_p.I894I|FLNB_ENST00000348383.5_Silent_p.I1063I|FLNB_ENST00000429972.2_Silent_p.I1063I			O75369	FLNB_HUMAN	filamin B, beta	1063					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		AGTTCACCATCGATACCAAAG	0.567													45	133					0	0	1	0	0	T	58108882	C	T	58108882	2	4	242	1	0	0	0	0	0	0	0	1	5967	874	31	1		1	FLNB	3	58108882	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	4274514	58108882	139913548	215	11829											
CADPS	8618	broad.mit.edu	37	chr3	62385086	62385086	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctaggaccaaatggtctaatCgtcttcttcgtcttcctcat	8	15	6	12	2	5	0	1	0	4	0	8	1	6	1	2	2	0	0	2	2	3	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:62385086C>T	ENST00000383710.4	-	30	4406	c.4057G>A	c.(4057-4059)Gat>Aat	p.D1353N	CADPS_ENST00000283269.9_Missense_Mutation_p.D1314N|CADPS_ENST00000357948.3_Missense_Mutation_p.D1274N	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1353	Mediates targeting and association with DCVs (By similarity).				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		ATGGTCTAATCGTCTTCTTCG	0.488													30	74					0	0	1	0	0	T	62385086	C	T	62385086	3	4	242	1	0	0	0	0	1	0	0	0	2588	884	31	1	8	1	CADPS	3	62385086	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	4276204	62385086	135637344	216	11830											
CADPS	8618	broad.mit.edu	37	chr3	62451122	62451122	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cactccttccaagatagtaaCgaactagaaaaacagcaaaa	20	6	5	10	1	0	2	0	0	0	2	2	3	2	2	2	0	4	2	2	0	9	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:62451122C>T	ENST00000383710.4	-	26	3905	c.3556G>A	c.(3556-3558)Gtt>Att	p.V1186I	CADPS_ENST00000462768.1_5'UTR|CADPS_ENST00000283269.9_Missense_Mutation_p.V1147I|CADPS_ENST00000357948.3_Missense_Mutation_p.V1107I	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1186	Mediates targeting and association with DCVs (By similarity).				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		AAGATAGTAACGAACTAGAAA	0.353													32	77					0	0	1	0	0	T	62451122	C	T	62451122	3	4	242	1	0	0	0	0	1	0	0	0	2588	536	19	1	525	1	CADPS	3	62451122	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	66036	62451122	135571308	217	11831											
COL8A1	1295	broad.mit.edu	37	chr3	99514755	99514755	+	Frame_Shift_Del	DEL	G	G	-																															gcataccacgttcactgcaaGgggggcaacgtgtgggttgc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:99514755delG	ENST00000261037.3	+	5	2390	c.2010delG	c.(2008-2010)aafs	p.K670fs	COL8A1_ENST00000273342.4_Frame_Shift_Del_p.K670fs	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	670	C1q.|Nonhelical region (NC1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						TTCACTGCAAGGGGGGCAACG	0.527													15	81	---	---	---	---						-	99514755	G	-	99514755	7	5	242	1	0	1	0	1	0	0	0	0	3728	991	35	0	2016	0	COL8A1	3	99514755	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	37063633	99514755	98507675	218	11832											
FILIP1L	11259	broad.mit.edu	37	chr3	99569644	99569644	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgcgtttgcagttccttCtctagtctggttgccttctg	2	18	10	11	1	4	0	0	0	4	0	6	0	5	0	2	1	3	4	2	1	1	6			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:99569644C>A	ENST00000331335.5	-	5	1346	c.876G>T	c.(874-876)gaG>gaT	p.E292D	FILIP1L_ENST00000383694.2_Missense_Mutation_p.E52D|FILIP1L_ENST00000471562.1_Missense_Mutation_p.E52D|FILIP1L_ENST00000487087.1_Intron|FILIP1L_ENST00000354552.3_Missense_Mutation_p.E292D|FILIP1L_ENST00000476723.1_Intron|CMSS1_ENST00000496116.1_Intron|CMSS1_ENST00000421999.2_Intron	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	292						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						GCAGTTCCTTCTCTAGTCTGG	0.463													98	265					1.77424e-55	1.87108e-55	1	1	0	A	99569644	C	A	99569644	3	1	242	1	0	0	0	0	1	0	0	0	5928	912	32	4	2560	4	FILIP1L	3	99569644	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	54889	99569644	98452786	219	11833											
DZIP3	9666	broad.mit.edu	37	chr3	108391473	108391473	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acatacgtaagcaaactgaaCgcagaaactagcagagcttt	17	7	8	9	2	0	3	0	1	0	2	0	3	0	3	0	0	7	5	0	0	6	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:108391473C>T	ENST00000361582.3	+	23	2789	c.2559C>T	c.(2557-2559)aaC>aaT	p.N853N	DZIP3_ENST00000463306.1_Silent_p.N853N	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	853					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						GCAAACTGAACGCAGAAACTA	0.393													31	54					0	0	1	0	0	T	108391473	C	T	108391473	2	4	242	1	0	0	0	0	0	0	0	1	4891	535	19	1		1	DZIP3	3	108391473	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	8821829	108391473	89630957	220	11834											
PLCXD2	257068	broad.mit.edu	37	chr3	111426772	111426772	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacctgtattcctttgtacaGgctcacatgattcattcagc	9	14	6	12	0	3	1	3	1	0	0	4	1	4	1	2	1	2	3	2	1	2	6			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:111426772G>T	ENST00000393934.3	+	2	733		c.e2-1		PLCXD2_ENST00000477665.1_Splice_Site	NM_153268.3	NP_695000.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2						intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						CCTTTGTACAGGCTCACATGA	0.453													3	16					1	1	1	1	0	T	111426772	G	T	111426772	5	4	242	1	0	0	0	0	0	0	1	0	12090	1014	35	4	169	4	PLCXD2	3	111426772	Splice_Site	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	3035299	111426772	86595658	221	11835											
GPR156	165829	broad.mit.edu	37	chr3	119900063	119900063	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggttgggccaggaatgcAagtatctggtgactacaaaa	13	8	12	8	0	1	1	0	1	1	0	1	2	1	2	2	4	2	3	2	4	6	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:119900063A>G	ENST00000464295.1	-	8	1287	c.842T>C	c.(841-843)tTg>tCg	p.L281S	GPR156_ENST00000315843.3_Missense_Mutation_p.L281S|GPR156_ENST00000461057.1_Missense_Mutation_p.L277S			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	281						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		CCAGGAATGCAAGTATCTGGT	0.488													9	107					0	0	1	0	0	G	119900063	A	G	119900063	3	3	242	1	0	0	0	0	1	0	0	0	6701	131	5	3	1614	3	GPR156	3	119900063	Missense_Mutation	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	8473291	119900063	78122367	222	11836											
POLQ	10721	broad.mit.edu	37	chr3	121251942	121251942	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcggtacagggcgaaagtcGgtatggtagagttcagcatt	11	9	15	6	3	1	1	1	0	0	1	2	2	1	1	0	4	3	5	0	4	4	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:121251942G>A	ENST00000264233.5	-	6	983	c.855C>T	c.(853-855)acC>acT	p.T285T	POLQ_ENST00000488282.1_5'UTR	NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	285	Helicase ATP-binding.				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		GGCGAAAGTCGGTATGGTAGA	0.448								DNA polymerases (catalytic subunits)					19	70					0	0	1	0	0	A	121251942	G	A	121251942	2	1	242	1	0	0	0	0	0	0	0	1	12256	1103	39	1		1	POLQ	3	121251942	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1351879	121251942	76770488	223	11837											
CASR	846	broad.mit.edu	37	chr3	122002728	122002728	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttccgcaacacacccattGtcaaggccaccaaccgagag	13	5	8	15	2	1	1	1	0	0	1	2	2	2	1	5	1	2	2	5	1	3	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:122002728G>A	ENST00000498619.1	+	7	2395	c.1957G>A	c.(1957-1959)Gtc>Atc	p.V653I	CASR_ENST00000490131.1_Missense_Mutation_p.V643I|CASR_ENST00000296154.5_Missense_Mutation_p.V643I	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	643					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CACACCCATTGTCAAGGCCAC	0.577													21	69					0	0	1	0	0	A	122002728	G	A	122002728	3	1	242	1	0	0	0	0	1	0	0	0	2700	1377	48	2	1979	2	CASR	3	122002728	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	750786	122002728	76019702	224	11838											
PDIA5	10954	broad.mit.edu	37	chr3	122811251	122811251	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtccacagtggcccaggcGgtgaaaggacaagggaccat	11	5	14	11	1	0	1	0	1	0	0	1	3	1	3	3	5	0	0	3	5	2	0	rs139086659	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:122811251G>A	ENST00000316218.7	+	3	314	c.219G>A	c.(217-219)gcG>gcA	p.A73A		NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	73					cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		TGGCCCAGGCGGTGAAAGGAC	0.527													27	56					0	0	1	0	0	A	122811251	G	A	122811251	2	1	242	1	0	0	0	0	0	0	0	1	11718	1103	39	1		1	PDIA5	3	122811251	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	808523	122811251	75211179	225	11839											
MYLK	4638	broad.mit.edu	37	chr3	123419105	123419105	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttcacatcattcttaacGtctttcttgagttcttcttt	7	20	4	10	1	7	1	2	1	5	0	7	1	7	1	0	0	1	2	0	0	1	8			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:123419105G>A	ENST00000360772.3	-	19	3588	c.3210C>T	c.(3208-3210)gaC>gaT	p.D1070D	MYLK_ENST00000475616.1_Silent_p.D1070D|MYLK_ENST00000360304.3_Silent_p.D1070D|MYLK_ENST00000359169.1_Silent_p.D1070D|MYLK_ENST00000346322.5_Silent_p.D1001D			Q15746	MYLK_HUMAN	myosin light chain kinase	1070	Actin-binding (calcium/calmodulin- insensitive) (By similarity).				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CATTCTTAACGTCTTTCTTGA	0.522													90	240					0	0	1	0	0	A	123419105	G	A	123419105	2	1	242	1	0	0	0	0	0	0	0	1	10104	1136	40	1		1	MYLK	3	123419105	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	607854	123419105	74603325	226	11840											
KALRN	8997	broad.mit.edu	37	chr3	124053260	124053260	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgttacatcaccagcgacGgctggagagcatctggcagc	9	7	14	11	2	2	1	1	0	1	1	2	3	2	1	1	4	4	4	1	4	1	1	rs35057827		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:124053260G>A	ENST00000360013.3	+	9	1686	c.1559G>A	c.(1558-1560)cGg>cAg	p.R520Q	KALRN_ENST00000240874.3_Missense_Mutation_p.R520Q|KALRN_ENST00000460856.1_Missense_Mutation_p.R520Q	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	520					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CACCAGCGACGGCTGGAGAGC	0.622													31	81					0	0	1	0	0	A	124053260	G	A	124053260	3	1	242	1	0	0	0	0	1	0	0	0	8019	1116	39	1	1593	1	KALRN	3	124053260	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	634155	124053260	73969170	227	11841											
HEG1	57493	broad.mit.edu	37	chr3	124739857	124739857	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccagactgaccgtcaaagatCgcagcgttctcgggccacca	10	6	10	15	4	2	3	1	1	1	2	4	3	2	3	4	1	1	2	4	1	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:124739857C>T	ENST00000311127.4	-	4	1098	c.1031G>A	c.(1030-1032)cGa>cAa	p.R344Q		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	344						extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						CGTCAAAGATCGCAGCGTTCT	0.527													5	30					0	0	1	0	0	T	124739857	C	T	124739857	3	4	242	1	0	0	0	0	1	0	0	0	7085	884	31	1	3170	1	HEG1	3	124739857	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	686597	124739857	73282573	228	11842											
PLXNA1	5361	broad.mit.edu	37	chr3	126723743	126723743	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagctgctcgcggcgggaCgcctgtgagcgagcagacga	7	5	17	12	6	0	2	0	1	0	1	1	5	0	3	1	2	5	4	1	2	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:126723743C>T	ENST00000251772.4	+	5	1635	c.1566C>T	c.(1564-1566)gaC>gaT	p.D522D	PLXNA1_ENST00000393409.2_Silent_p.D545D			Q9UIW2	PLXA1_HUMAN	plexin A1	545					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CGCGGCGGGACGCCTGTGAGC	0.692													12	60					0	0	1	0	0	T	126723743	C	T	126723743	2	4	242	1	0	0	0	0	0	0	0	1	12167	535	19	1		1	PLXNA1	3	126723743	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1983886	126723743	71298687	229	11843											
MCM2	4171	broad.mit.edu	37	chr3	127336184	127336184	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caacagagcatctccatctcGaaggctggcatcgtcacctc	10	8	8	15	2	3	1	1	0	2	1	7	2	3	1	2	2	2	3	2	2	2	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:127336184G>A	ENST00000265056.7	+	11	2080	c.1836G>A	c.(1834-1836)tcG>tcA	p.S612S		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	612	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						TCTCCATCTCGAAGGCTGGCA	0.587													12	53					0	0	1	0	0	A	127336184	G	A	127336184	2	1	242	1	0	0	0	0	0	0	0	1	9436	1045	37	1		1	MCM2	3	127336184	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	612441	127336184	70686246	230	11844											
ABTB1	80325	broad.mit.edu	37	chr3	127396381	127396381	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacatctgcttccgagtggCtggctgcagcttcctctgcc	4	12	11	14	1	2	1	0	1	2	0	4	2	4	1	3	2	4	5	3	2	0	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:127396381C>T	ENST00000468137.1	+	8	1026	c.410C>T	c.(409-411)gCt>gTt	p.A137V	ABTB1_ENST00000393363.3_Missense_Mutation_p.A137V|ABTB1_ENST00000453791.2_Missense_Mutation_p.A137V|ABTB1_ENST00000232744.8_Missense_Mutation_p.A279V			Q969K4	ABTB1_HUMAN	ankyrin repeat and BTB (POZ) domain containing 1	279	BTB 1.					cytoplasm|nucleolus|plasma membrane	translation elongation factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						TTCCGAGTGGCTGGCTGCAGC	0.632													24	81					0	0	1	0	0	T	127396381	C	T	127396381	3	4	242	1	0	0	0	0	1	0	0	0	102	797	28	2	870	2	ABTB1	3	127396381	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	60197	127396381	70626049	231	11845											
ABTB1	80325	broad.mit.edu	37	chr3	127399182	127399182	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggcagcccggcaggagaCggactctatcccgctggtgg	6	7	16	12	3	1	1	0	0	1	1	2	3	2	2	2	6	1	3	2	6	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:127399182C>T	ENST00000468137.1	+	11	1491	c.875C>T	c.(874-876)aCg>aTg	p.T292M	ABTB1_ENST00000393363.3_Missense_Mutation_p.T292M|ABTB1_ENST00000453791.2_Missense_Mutation_p.T292M|ABTB1_ENST00000232744.8_Missense_Mutation_p.T434M			Q969K4	ABTB1_HUMAN	ankyrin repeat and BTB (POZ) domain containing 1	434	BTB 2.					cytoplasm|nucleolus|plasma membrane	translation elongation factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						CGGCAGGAGACGGACTCTATC	0.672													3	24					0	0	1	0	0	T	127399182	C	T	127399182	3	4	242	1	0	0	0	0	1	0	0	0	102	536	19	1	1347	1	ABTB1	3	127399182	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	2801	127399182	70623248	232	11846											
RPN1	6184	broad.mit.edu	37	chr3	128344415	128344415	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagccgaacatagatgataaCggtgaagaacaggatgtaga	17	6	12	6	2	0	5	0	2	0	3	0	7	0	6	1	2	4	1	1	2	6	3	rs1126829	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:128344415C>T	ENST00000296255.3	-	8	1405	c.1357G>A	c.(1357-1359)Gtt>Att	p.V453I	RPN1_ENST00000497289.1_Missense_Mutation_p.V281I	NM_002950.3	NP_002941.1	P04843	RPN1_HUMAN	ribophorin I	453					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|melanosome|oligosaccharyltransferase complex|rough microsome	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|stomach(2)	13				GBM - Glioblastoma multiforme(114;0.189)		TAGATGATAACGGTGAAGAAC	0.517			T	EVI1	AML								52	176					0	0	1	0	0	T	128344415	C	T	128344415	3	4	242	1	0	0	0	0	1	0	0	0	13659	536	19	1	478	1	RPN1	3	128344415	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	945233	128344415	69678015	233	11847											
PLXND1	23129	broad.mit.edu	37	chr3	129275464	129275464	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accctggggcactcacctgcGgccgatacctcttggcgtac	6	8	11	16	3	2	0	1	0	1	0	2	1	2	0	4	4	3	2	4	4	2	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:129275464G>A	ENST00000324093.4	-	35	5835	c.5657C>T	c.(5656-5658)cCg>cTg	p.P1886L	PLXND1_ENST00000504689.1_Missense_Mutation_p.P42L|PLXND1_ENST00000393239.1_3'UTR	NM_015103.2	NP_055918.2	Q9Y4D7	PLXD1_HUMAN	plexin D1	1886					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						ACTCACCTGCGGCCGATACCT	0.542													7	22					0	0	1	0	0	A	129275464	G	A	129275464	3	1	242	1	0	0	0	0	1	0	0	0	12175	1116	39	1	128	1	PLXND1	3	129275464	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	931049	129275464	68746966	234	11848											
MRPL3	11222	broad.mit.edu	37	chr3	131208896	131208896	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggcggcaatccaagttccCggtaaaattccaatatggat	12	10	9	10	3	0	0	0	0	0	0	4	1	3	1	3	4	0	3	3	4	6	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:131208896C>T	ENST00000264995.3	-	5	644	c.497G>A	c.(496-498)cGg>cAg	p.R166Q	MRPL3_ENST00000506946.1_5'UTR|MRPL3_ENST00000425847.2_Missense_Mutation_p.R193Q	NM_007208.3	NP_009139.1	P09001	RM03_HUMAN	mitochondrial ribosomal protein L3	166					translation	mitochondrial large ribosomal subunit	RNA binding|structural constituent of ribosome			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						TCCAAGTTCCCGGTAAAATTC	0.363													9	21					0	0	1	0	0	T	131208896	C	T	131208896	3	4	242	1	0	0	0	0	1	0	0	0	9842	652	23	1	573	1	MRPL3	3	131208896	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1933432	131208896	66813534	235	11849											
EPHB1	2047	broad.mit.edu	37	chr3	134670328	134670328	+	Frame_Shift_Del	DEL	G	G	-																															caccaccttcatcaaccggcGgggggcccatcgcatctaca																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:134670328delG	ENST00000398015.3	+	3	609	c.239delG	c.(238-240)cgfs	p.R80fs	EPHB1_ENST00000488154.1_3'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	80						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						ATCAACCGGCGGGGGGCCCAT	0.547													9	25	---	---	---	---						-	134670328	G	-	134670328	7	5	242	1	0	1	0	1	0	0	0	0	5202	1116	39	0	249	0	EPHB1	3	134670328	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	3461432	134670328	63352102	236	11850											
RNF13	11342	broad.mit.edu	37	chr3	149678734	149678734	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggggctttatcggaatcccGctcacatcagaacatgacag	11	9	10	11	2	2	2	2	1	0	1	4	3	3	3	1	3	1	2	1	3	3	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:149678734G>A	ENST00000344229.3	+	11	1691	c.989G>A	c.(988-990)cGc>cAc	p.R330H	RNF13_ENST00000361785.6_Missense_Mutation_p.R211H|RNF13_ENST00000392894.3_Missense_Mutation_p.R330H	NM_007282.4	NP_009213.1	O43567	RNF13_HUMAN	ring finger protein 13	330					protein autoubiquitination	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane|nuclear inner membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	11		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TCGGAATCCCGCTCACATCAG	0.413													21	48					0	0	1	0	0	A	149678734	G	A	149678734	3	1	242	1	0	0	0	0	1	0	0	0	13489	1087	38	1	1023	1	RNF13	3	149678734	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	15008406	149678734	48343696	237	11851											
DHX36	170506	broad.mit.edu	37	chr3	154032977	154032978	+	Frame_Shift_Ins	INS	-	-	T																															tctgttcctgattctaaacaINStttttttttcttgatttatc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:154032977_154032978insT	ENST00000496811.1	-	3	540_541	c.460_461insA	c.(460-462)gttfs	p.V154fs	DHX36_ENST00000544526.1_Frame_Shift_Ins_p.V154fs|DHX36_ENST00000329463.5_Frame_Shift_Ins_p.V154fs|DHX36_ENST00000308361.6_Frame_Shift_Ins_p.V154fs	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	154						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GATTCTAAACATTTTTTTTTCT	0.337													13	32	---	---	---	---						T	154032978	-	T	154032977	7	5	242	1	0	1	1	0	0	0	0	0	4537	217	8	0	2657	0	DHX36	3	154032977	Frame_Shift_Ins	INS	-	TCGA-KK-A59V-01A-11D-A29Q-08	4354243	154032977	43989453	238	11852											
GMPS	8833	broad.mit.edu	37	chr3	155649577	155649577	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gactgtcgttcctacagttaCgtgtgtggaatctccagtaa	9	13	10	9	2	1	0	0	0	1	0	4	2	2	1	2	1	2	3	2	1	4	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:155649577C>T	ENST00000496455.1	+	13	1919	c.1584C>T	c.(1582-1584)taC>taT	p.Y528Y	GMPS_ENST00000295920.7_Silent_p.Y429Y	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	528					glutamine metabolic process|purine base biosynthetic process	cytosol	ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CCTACAGTTACGTGTGTGGAA	0.353			T	MLL	AML								37	116					0	0	1	0	0	T	155649577	C	T	155649577	2	4	242	1	0	0	0	0	0	0	0	1	6540	547	19	1		1	GMPS	3	155649577	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1616600	155649577	42372853	239	11853											
PLD1	5337	broad.mit.edu	37	chr3	171431771	171431771	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctttgtctaccagcaggaCgaaggcaatggcaccgctgt	9	10	11	11	2	2	0	0	0	2	0	2	2	2	1	2	3	2	4	2	3	3	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:171431771C>T	ENST00000356327.5	-	9	893	c.823G>A	c.(823-825)Gtc>Atc	p.V275I	PLD1_ENST00000342215.6_Missense_Mutation_p.V275I|PLD1_ENST00000351298.4_Missense_Mutation_p.V275I|PLD1_ENST00000340989.4_Missense_Mutation_p.V275I	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	275	PH.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	ACCAGCAGGACGAAGGCAATG	0.358													17	45					0	0	1	0	0	T	171431771	C	T	171431771	3	4	242	1	0	0	0	0	1	0	0	0	12093	536	19	1	2477	1	PLD1	3	171431771	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	15782194	171431771	26590659	240	11854											
GNB4	59345	broad.mit.edu	37	chr3	179131318	179131318	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaacaaaagtcctcatgtcaGgactcaaagaaagactcatc	18	7	6	10	0	4	2	4	0	0	2	6	3	5	3	1	1	1	0	1	1	5	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:179131318G>T	ENST00000232564.3	-	8	867	c.581C>A	c.(580-582)cCt>cAt	p.P194H	GNB4_ENST00000468623.1_Missense_Mutation_p.P194H|GNB4_ENST00000465153.1_5'UTR	NM_021629.3	NP_067642.1	Q9HAV0	GBB4_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 4	194					cellular response to glucagon stimulus|energy reserve metabolic process	plasma membrane	signal transducer activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	16	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)			CCTCATGTCAGGACTCAAAGA	0.433													26	63					1.17739e-12	1.2273e-12	1	1	0	T	179131318	G	T	179131318	3	4	242	1	0	0	0	0	1	0	0	0	6562	1000	35	4	453	4	GNB4	3	179131318	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	7699547	179131318	18891112	241	11855											
CHRD	8646	broad.mit.edu	37	chr3	184099097	184099097	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaccagagtgcccaaccccGgcctgtgggcagccgcgcca	9	3	12	17	3	0	1	0	0	0	1	0	1	0	1	7	2	4	1	7	2	2	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:184099097G>A	ENST00000204604.1	+	3	573	c.327G>A	c.(325-327)ccG>ccA	p.P109P	CHRD_ENST00000482805.1_3'UTR|CHRD_ENST00000348986.3_Silent_p.P109P|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000450923.1_Silent_p.P109P	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	109	VWFC 1.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCCCAACCCCGGCCTGTGGGC	0.687													3	23					0	0	1	0	0	A	184099097	G	A	184099097	2	1	242	1	0	0	0	0	0	0	0	1	3394	1103	39	1		1	CHRD	3	184099097	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	4967779	184099097	13923333	242	11856											
EPHB3	2049	broad.mit.edu	37	chr3	184294936	184294936	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagagccctctgccgcctcGttatgcggccgtgaatatca	8	9	10	14	4	2	2	1	1	1	1	3	2	2	2	4	1	3	1	4	1	4	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:184294936G>A	ENST00000330394.2	+	5	1771	c.1319G>A	c.(1318-1320)cGt>cAt	p.R440H	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	440	Fibronectin type-III 1.		R -> C (in dbSNP:rs56029711).			integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			CTGCCGCCTCGTTATGCGGCC	0.632													16	28					0	0	1	0	0	A	184294936	G	A	184294936	3	1	242	1	0	0	0	0	1	0	0	0	5204	1145	40	1	1337	1	EPHB3	3	184294936	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	195839	184294936	13727494	243	11857											
RTP2	344892	broad.mit.edu	37	chr3	187416696	187416696	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcacagctgcttgaagacgcGcatgcgcaccgagcccgccc	8	4	12	17	5	0	2	0	1	0	1	0	3	0	2	3	0	4	5	3	0	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:187416696G>A	ENST00000358241.1	-	2	696	c.268C>T	c.(268-270)Cgc>Tgc	p.R90C		NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	receptor (chemosensory) transporter protein 2	90					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		TTGAAGACGCGCATGCGCACC	0.647													3	34					0	0	1	0	0	A	187416696	G	A	187416696	3	1	242	1	0	0	0	0	1	0	0	0	13786	1087	38	1	413	1	RTP2	3	187416696	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	3121760	187416696	10605734	244	11858											
HRASLS	57110	broad.mit.edu	37	chr3	192973512	192973512	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacttgatcgaagtgttcCgtcctggctatcagcactgg	7	11	13	10	2	1	1	1	1	0	0	4	3	3	2	2	3	1	3	2	3	2	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:192973512C>T	ENST00000264735.2	+	2	482	c.388C>T	c.(388-390)Cgt>Tgt	p.R130C	HRASLS_ENST00000602513.1_Missense_Mutation_p.R25C	NM_020386.4	NP_065119.2	Q9HDD0	HRSL1_HUMAN	HRAS-like suppressor	25										breast(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	10	all_cancers(143;9.1e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000159)		CGAAGTGTTCCGTCCTGGCTA	0.488													60	132					0	0	1	0	0	T	192973512	C	T	192973512	3	4	242	1	0	0	0	0	1	0	0	0	7390	652	23	1	75	1	HRASLS	3	192973512	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	5556816	192973512	5048918	245	11859											
OPA1	4976	broad.mit.edu	37	chr3	193377284	193377284	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctagctgaaaatgcaatTgaaaacatggtgggtccaga	14	11	10	6	0	1	3	0	2	1	1	2	3	2	3	1	2	3	2	1	2	6	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:193377284T>C	ENST00000361510.2	+	25	2688	c.2454T>C	c.(2452-2454)atT>atC	p.I818I	OPA1_ENST00000361828.2_Silent_p.I781I|OPA1_ENST00000361908.3_Silent_p.I800I|OPA1_ENST00000392438.3_Silent_p.I763I|OPA1_ENST00000361715.2_Silent_p.I782I|OPA1_ENST00000361150.2_Silent_p.I764I	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	763					apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		AAAATGCAATTGAAAACATGG	0.318													5	11					0	0	1	0	0	C	193377284	T	C	193377284	2	2	242	1	0	0	0	0	0	0	0	1	10919	1800	63	3		3	OPA1	3	193377284	Silent	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	403772	193377284	4645146	246	11860											
MUC4	4585	broad.mit.edu	37	chr3	195516082	195516082	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcgtgaccctgaggaggccGgttcgctggtctgtgtttgt	3	14	15	9	3	1	2	0	2	1	0	3	3	1	3	2	4	0	3	2	4	0	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr3:195516082G>A	ENST00000463781.3	-	2	2828	c.2369C>T	c.(2368-2370)cCg>cTg	p.P790L	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.P790L|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	795					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGAGGAGGCCGGTTCGCTGGT	0.612													28	90					0	0	1	0	0	A	195516082	G	A	195516082	3	1	242	1	0	0	0	0	1	0	0	0	10026	1116	39	1		1	MUC4	3	195516082	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	2138798	195516082	2506348	247	11861											
GAK	2580	broad.mit.edu	37	chr4	876523	876523	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacgttcttgtggtcctgccGcagccaggcgtgcatgttcc	4	11	13	13	3	1	0	0	0	1	0	3	1	3	0	4	2	3	4	4	2	0	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:876523G>A	ENST00000314167.4	-	14	1599	c.1489C>T	c.(1489-1491)Cgg>Tgg	p.R497W	GAK_ENST00000511163.1_Missense_Mutation_p.R418W	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	497	Phosphatase tensin-type.				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		TGGTCCTGCCGCAGCCAGGCG	0.612													8	90					0	0	1	0	0	A	876523	G	A	876523	3	1	242	1	0	0	0	0	1	0	0	0	6235	1086	38	1	2506	1	GAK	4	876523	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08		876523	190277753	248	11862											
RNF212	285498	broad.mit.edu	37	chr4	1067393	1067393	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacattttacttacccattcGtccatcttgaggtggactaa	10	14	7	10	1	1	1	0	1	1	0	3	3	2	2	2	2	2	0	2	2	3	6			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:1067393G>A	ENST00000382968.5	-	9	665	c.568C>T	c.(568-570)Cga>Tga	p.R190*	RNF212_ENST00000433731.2_Nonsense_Mutation_p.R190*	NM_001131034.3|NM_194439.4	NP_001124506.1|NP_919420.1	Q495C1	RN212_HUMAN	ring finger protein 212	190							zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(23;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (64;0.151)		TTACCCATTCGTCCATCTTGA	0.413											OREG0016028	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	36					0	0	1	0	0	A	1067393	G	A	1067393	4	1	242	1	0	0	0	0	0	1	0	0	13528	1153	40	1	333	1	RNF212	4	1067393	Nonsense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	190870	1067393	190086883	249	11863											
POLN	353497	broad.mit.edu	37	chr4	2129906	2129906	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaataacttcagaagttccGgatctccagataaatgtgta	14	11	9	7	1	2	2	1	0	1	2	4	4	3	4	2	2	1	2	2	2	6	5	rs144575256		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:2129906G>A	ENST00000511885.2	-	19	2269	c.1916C>T	c.(1915-1917)cCg>cTg	p.P639L	POLN_ENST00000382865.1_Missense_Mutation_p.P639L			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	639					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			CAGAAGTTCCGGATCTCCAGA	0.363								DNA polymerases (catalytic subunits)					5	20					0	0	1	0	0	A	2129906	G	A	2129906	3	1	242	1	0	0	0	0	1	0	0	0	12255	1116	39	1	818	1	POLN	4	2129906	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1062513	2129906	189024370	250	11864											
HGFAC	3083	broad.mit.edu	37	chr4	3449905	3449905	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccctggtccccctggtcGccgaccacaagtgcagcagc	7	5	12	17	2	0	0	0	0	0	0	2	1	1	0	5	3	3	2	5	3	1	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:3449905G>A	ENST00000382774.3	+	13	1802	c.1687G>A	c.(1687-1689)Gcc>Acc	p.A563T	HGFAC_ENST00000511533.1_Missense_Mutation_p.A570T	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	563	Peptidase S1.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CCCCCTGGTCGCCGACCACAA	0.657													8	8					0	0	1	0	0	A	3449905	G	A	3449905	3	1	242	1	0	0	0	0	1	0	0	0	7127	1087	38	1	1737	1	HGFAC	4	3449905	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1319999	3449905	187704371	251	11865											
TBC1D14	57533	broad.mit.edu	37	chr4	6925751	6925751	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctctatcaaggaaacccGtggcttacaccagcaggact	12	7	10	12	1	2	0	1	0	1	0	2	3	2	2	2	3	4	3	2	3	4	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:6925751G>A	ENST00000409757.4	+	2	759	c.635G>A	c.(634-636)cGt>cAt	p.R212H	TBC1D14_ENST00000448507.1_Missense_Mutation_p.R212H	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	212						intracellular	Rab GTPase activator activity			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						AAGGAAACCCGTGGCTTACAC	0.483													17	30					0	0	1	0	0	A	6925751	G	A	6925751	3	1	242	1	0	0	0	0	1	0	0	0	15660	1145	40	1	637	1	TBC1D14	4	6925751	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	3475846	6925751	184228525	252	11866											
ZNF518B	85460	broad.mit.edu	37	chr4	10445201	10445202	+	Frame_Shift_Ins	INS	-	-	A																															cttagttgccttgcaacctgINSaaaaattgaaggatccttga																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:10445201_10445202insA	ENST00000326756.3	-	3	3189_3190	c.2751_2752insT	c.(2749-2754)ttaggtfs	p.LG917fs		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	917					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						CTTGCAACCTGAAAAATTGAAG	0.411													15	157	---	---	---	---						A	10445202	-	A	10445201	7	5	242	1	0	1	1	0	0	0	0	0	18020	1299	45	0	476	0	ZNF518B	4	10445201	Frame_Shift_Ins	INS	-	TCGA-KK-A59V-01A-11D-A29Q-08	3519450	10445201	180709075	253	11867											
PCDH7	5099	broad.mit.edu	37	chr4	30723339	30723339	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgcgagaagctgccccagTgtcagatgatcttcgacgag	10	7	12	12	4	2	3	1	1	1	2	3	6	2	3	3	0	2	1	3	0	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:30723339T>A	ENST00000361762.2	+	1	1303	c.295T>A	c.(295-297)Tgt>Agt	p.C99S	PCDH7_ENST00000543491.1_Missense_Mutation_p.C99S	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	99	Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GCTGCCCCAGTGTCAGATGAT	0.602													14	23					0	0	1	0	0	A	30723339	T	A	30723339	3	1	242	1	0	0	0	0	1	0	0	0	11563	1696	59	5	297	5	PCDH7	4	30723339	Missense_Mutation	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	20278138	30723339	160430937	254	11868											
PGM2	55276	broad.mit.edu	37	chr4	37831682	37831682	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccgaatggagtttgggacaGctggcctccgagctgctatg	7	9	14	11	2	0	0	0	0	0	0	1	4	1	2	3	3	3	4	3	3	2	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:37831682G>A	ENST00000537241.1	+	0	190				PGM2_ENST00000381967.4_Missense_Mutation_p.A60T|PGM2_ENST00000544359.1_De_novo_Start_OutOfFrame			Q96G03	PGM2_HUMAN	phosphoglucomutase 2						glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						GTTTGGGACAGCTGGCCTCCG	0.423													16	38					0	0	1	0	0	A	37831682	G	A	37831682	1	1	242	1	0	0	0	0	0	0	0	0	11846	971	34	2		2	PGM2	4	37831682	Translation_Start_Site	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	7108343	37831682	153322594	255	11869											
PDS5A	23244	broad.mit.edu	37	chr4	39878622	39878623	+	Frame_Shift_Ins	INS	-	-	G																															atgtactcacgatcgtatctINSggggaaggtctgtttctatt																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:39878622_39878623insG	ENST00000303538.8	-	19	2682_2683	c.2143_2144insC	c.(2143-2145)gatfs	p.D715fs		NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)	715					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						CGATCGTATCTGGGGAAGGTCT	0.381													16	46	---	---	---	---						G	39878623	-	G	39878622	7	5	242	1	0	1	1	0	0	0	0	0	11738	1580	55	0	1929	0	PDS5A	4	39878622	Frame_Shift_Ins	INS	-	TCGA-KK-A59V-01A-11D-A29Q-08	2046940	39878622	151275654	256	11870											
APBB2	323	broad.mit.edu	37	chr4	40946968	40946968	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctgggatggagacgggccGttcccactgagtcgttcctg	5	10	15	11	3	0	2	0	1	0	1	3	4	2	3	3	3	1	3	3	3	0	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:40946968G>A	ENST00000295974.8	-	7	1584	c.955C>T	c.(955-957)Cgg>Tgg	p.R319W	APBB2_ENST00000508593.1_Missense_Mutation_p.R320W|APBB2_ENST00000506352.1_Missense_Mutation_p.R319W|APBB2_ENST00000513140.1_Missense_Mutation_p.R319W	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	319	WW.				cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						GAGACGGGCCGTTCCCACTGA	0.527													22	84					0	0	1	0	0	A	40946968	G	A	40946968	3	1	242	1	0	0	0	0	1	0	0	0	757	1144	40	1	1369	1	APBB2	4	40946968	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1068346	40946968	150207308	257	11871											
LIMCH1	22998	broad.mit.edu	37	chr4	41608016	41608016	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaggattgttggctcagatgCgaaaggtaacttggcttttc	10	13	12	6	1	1	1	1	0	0	1	2	3	1	2	0	4	2	4	0	4	3	6			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:41608016C>T	ENST00000313860.7	+	6	535	c.481C>T	c.(481-483)Cga>Tga	p.R161*	LIMCH1_ENST00000503057.1_Nonsense_Mutation_p.R2*|LIMCH1_ENST00000512632.1_Nonsense_Mutation_p.R161*|LIMCH1_ENST00000513024.1_Nonsense_Mutation_p.R2*|LIMCH1_ENST00000509638.1_Nonsense_Mutation_p.R2*|LIMCH1_ENST00000512820.1_Nonsense_Mutation_p.R161*|LIMCH1_ENST00000508501.1_Nonsense_Mutation_p.R161*|LIMCH1_ENST00000511496.1_Nonsense_Mutation_p.R2*|LIMCH1_ENST00000512946.1_Nonsense_Mutation_p.R161*	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	161					actomyosin structure organization		actin binding|zinc ion binding	p.R2*(1)|p.R161*(1)		central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						GGCTCAGATGCGAAAGGTAAC	0.428													18	37					0	0	1	0	0	T	41608016	C	T	41608016	4	4	242	1	0	0	0	0	0	1	0	0	8837	760	27	1	503	1	LIMCH1	4	41608016	Nonsense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	661048	41608016	149546260	258	11872											
LRRC66	339977	broad.mit.edu	37	chr4	52860732	52860732	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatcataagtgaacatgcccGgaaactcatcccctaaggga	15	7	8	11	1	2	1	2	1	0	0	3	3	3	3	3	2	3	0	3	2	5	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:52860732G>A	ENST00000343457.3	-	4	2462	c.2456C>T	c.(2455-2457)cCg>cTg	p.P819L		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	819						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GAACATGCCCGGAAACTCATC	0.463													15	40					0	0	1	0	0	A	52860732	G	A	52860732	3	1	242	1	0	0	0	0	1	0	0	0	9063	1116	39	1	190	1	LRRC66	4	52860732	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	11252716	52860732	138293544	259	11873											
PDGFRA	5156	broad.mit.edu	37	chr4	55127503	55127503	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcggcggcccacacagggttGtacacttgctattacaacca	10	9	9	13	2	0	0	0	0	0	0	1	0	0	0	2	3	4	3	2	3	4	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:55127503G>A	ENST00000257290.5	+	3	622	c.291G>A	c.(289-291)ttG>ttA	p.L97L	FIP1L1_ENST00000507166.1_Intron|PDGFRA_ENST00000508170.1_Silent_p.L97L	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	97	Ig-like C2-type 1.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	ACACAGGGTTGTACACTTGCT	0.502			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			5	303					0	0	1	0	0	A	55127503	G	A	55127503	2	1	242	1	0	0	0	0	0	0	0	1	11708	1368	48	2		2	PDGFRA	4	55127503	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	2266771	55127503	136026773	260	11874											
PDGFRA	5156	broad.mit.edu	37	chr4	55140716	55140716	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccctgcgttctgaactcaCggtggctgctgcagtcctgg	5	10	13	13	2	2	1	1	1	1	0	3	1	3	1	2	3	5	4	2	3	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:55140716C>T	ENST00000257290.5	+	11	1908	c.1577C>T	c.(1576-1578)aCg>aTg	p.T526M	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	526					cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TCTGAACTCACGGTGGCTGCT	0.478			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			25	84					0	0	1	0	0	T	55140716	C	T	55140716	3	4	242	1	0	0	0	0	1	0	0	0	11708	536	19	1	1615	1	PDGFRA	4	55140716	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	13213	55140716	136013560	261	11875											
KDR	3791	broad.mit.edu	37	chr4	55984794	55984794	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaacatagacataaatgaccGaggccaagtcagtttcccgg	14	7	10	10	2	1	2	1	1	0	1	2	4	2	2	3	2	1	1	3	2	5	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:55984794G>A	ENST00000263923.4	-	3	630	c.335C>T	c.(334-336)tCg>tTg	p.S112L		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	112					angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	ATAAATGACCGAGGCCAAGTC	0.418			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)			8	59					0	0	1	0	0	A	55984794	G	A	55984794	3	1	242	1	0	0	0	0	1	0	0	0	8182	1059	37	1	3847	1	KDR	4	55984794	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	844078	55984794	135169482	262	11876											
REST	5978	broad.mit.edu	37	chr4	57777468	57777468	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccattcgctgtgaccgctgcGgctacaatactaatcgatat	10	11	8	12	4	0	1	0	1	0	0	2	2	0	1	2	1	3	3	2	1	5	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:57777468G>A	ENST00000309042.7	+	2	978	c.664G>A	c.(664-666)Ggc>Agc	p.G222S	REST_ENST00000514063.1_3'UTR	NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	222					cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					TGACCGCTGCGGCTACAATAC	0.498													20	40					0	0	1	0	0	A	57777468	G	A	57777468	3	1	242	1	0	0	0	0	1	0	0	0	13286	1116	39	1	666	1	REST	4	57777468	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1792674	57777468	133376808	263	11877											
GNRHR	0	broad.mit.edu	37	chr4	68610374	68610374	+	Nonsense_Mutation	SNP	G	G	T																															aaaagagggatgatgaagagGcagctgaaggtgaaaaagtt																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:68610374G>T	ENST00000226413.4	-	2	678	c.654C>A	c.(652-654)tgC>tgA	p.C218*	RP11-453E17.1_ENST00000502758.1_RNA|RP11-453E17.1_ENST00000500538.2_RNA|GNRHR_ENST00000420975.2_Missense_Mutation_p.P176T	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor	218					multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)	TGATGAAGAGGCAGCTGAAGG	0.433													33	77					1.61788e-16	1.69298e-16	1	1	0	T	68610374	G	T	68610374	4	4	242	1	0	0	0	0	0	1	0	0	6591	1204	42	4	340	4	GNRHR	4	68610374	Nonsense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	10832906	68610374	122543902	264	11878	60	2									
GNRHR	0	broad.mit.edu	37	chr4	68610375	68610375	+	Missense_Mutation	SNP	C	C	T																															aaagagggatgatgaagaggCagctgaaggtgaaaaagtta																								rs151105045	by1000genomes	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:68610375C>T	ENST00000226413.4	-	2	677	c.653G>A	c.(652-654)tGc>tAc	p.C218Y	RP11-453E17.1_ENST00000502758.1_RNA|RP11-453E17.1_ENST00000500538.2_RNA|GNRHR_ENST00000420975.2_Silent_p.L175L	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor	218					multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)	GATGAAGAGGCAGCTGAAGGT	0.438													35	77					0	0	1	0	0	T	68610375	C	T	68610375	3	4	242	1	0	0	0	0	1	0	0	0	6591	710	25	2	341	2	GNRHR	4	68610375	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1	68610375	122543901	265	11879	60	2									
UGT2A3	79799	broad.mit.edu	37	chr4	69795695	69795695	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcatgggcagctgatcgcaGgtgcttggctcctttgtggc	4	12	15	10	1	1	1	1	1	0	0	3	1	2	1	1	4	2	5	1	4	0	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:69795695G>T	ENST00000251566.4	-	6	1450	c.1420C>A	c.(1420-1422)Ctg>Atg	p.L474M	UGT2A3_ENST00000420231.2_Missense_Mutation_p.L185M	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	474						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GCTGATCGCAGGTGCTTGGCT	0.488													41	91					4.67007e-22	4.9106e-22	1	1	0	T	69795695	G	T	69795695	3	4	242	1	0	0	0	0	1	0	0	0	17015	991	35	4	167	4	UGT2A3	4	69795695	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1185320	69795695	121358581	266	11880											
UGT2B28	54490	broad.mit.edu	37	chr4	70146235	70146235	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggatggctctgaagtggaCttcagttcttctgctgatac	8	13	11	9	0	4	2	1	2	3	0	4	4	4	4	0	3	2	3	0	3	2	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:70146235C>T	ENST00000335568.5	+	1	19	c.17C>T	c.(16-18)aCt>aTt	p.T6I	UGT2B28_ENST00000511240.1_Missense_Mutation_p.T6I	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	6					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	CTGAAGTGGACTTCAGTTCTT	0.403													53	155					0	0	1	0	0	T	70146235	C	T	70146235	3	4	242	1	0	0	0	0	1	0	0	0	17020	565	20	2	19	2	UGT2B28	4	70146235	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	350540	70146235	121008041	267	11881											
SULT1E1	6783	broad.mit.edu	37	chr4	70713451	70713451	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagaaaagaaatagtacacGtggactctttcccttttccc	12	12	7	10	1	1	2	0	0	1	2	3	3	3	3	2	1	1	2	2	1	6	6			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:70713451G>A	ENST00000226444.3	-	6	668	c.556C>T	c.(556-558)Cgt>Tgt	p.R186C		NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN	sulfotransferase family 1E, estrogen-preferring, member 1	186					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						AATAGTACACGTGGACTCTTT	0.358													16	52					0	0	1	0	0	A	70713451	G	A	70713451	3	1	242	1	0	0	0	0	1	0	0	0	15436	1145	40	1	340	1	SULT1E1	4	70713451	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	567216	70713451	120440825	268	11882											
PF4	5196	broad.mit.edu	37	chr4	74846961	74846961	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taattattttcttgtacagcGgggcttgcaggtccaagcaa	10	13	10	8	1	1	0	0	0	1	0	2	0	2	0	1	3	4	4	1	3	5	7			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:74846961G>A	ENST00000296029.3	-	3	436	c.266C>T	c.(265-267)cCg>cTg	p.P89L		NM_002619.3	NP_002610.1	P02776	PLF4_HUMAN	platelet factor 4	89					cytokine-mediated signaling pathway|immune response|leukocyte chemotaxis|negative regulation of angiogenesis|negative regulation of apoptosis|negative regulation of cytolysis|negative regulation of megakaryocyte differentiation|negative regulation of MHC class II biosynthetic process|platelet activation|platelet degranulation|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of tumor necrosis factor production	extracellular space|platelet alpha granule lumen	chemokine activity|heparin binding			kidney(1)|lung(1)	2	Breast(15;0.00136)		all cancers(17;0.0034)|Lung(101;0.196)		Drotrecogin alfa(DB00055)	CTTGTACAGCGGGGCTTGCAG	0.423													24	64					0	0	1	0	0	A	74846961	G	A	74846961	3	1	242	1	0	0	0	0	1	0	0	0	11800	1116	39	1	43	1	PF4	4	74846961	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	4133510	74846961	116307315	269	11883											
CDKL2	8999	broad.mit.edu	37	chr4	76521466	76521466	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aatgttataaatgcctgatgGggaatgtctgttcggtttaa	11	15	11	4	1	1	1	0	1	1	0	2	2	1	2	1	3	1	3	1	3	6	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:76521466G>T	ENST00000429927.2	-	10	2084	c.1381C>A	c.(1381-1383)Cca>Aca	p.P461T	CDKL2_ENST00000307465.4_Missense_Mutation_p.P461T	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	461					sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			ATGCCTGATGGGGAATGTCTG	0.338													8	39					2.17888e-05	2.23252e-05	1	1	0	T	76521466	G	T	76521466	3	4	242	1	0	0	0	0	1	0	0	0	3176	1232	43	4	108	4	CDKL2	4	76521466	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1674505	76521466	114632810	270	11884											
FRAS1	80144	broad.mit.edu	37	chr4	79396694	79396694	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcgcaccgagcaaggcacCgccagctccagctccagggt	8	5	12	16	3	0	0	0	0	0	0	3	1	2	0	5	2	3	5	5	2	1	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:79396694C>T	ENST00000264895.6	+	54	8225	c.7785C>T	c.(7783-7785)acC>acT	p.T2595T		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2594	Calx-beta 1.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AGCAAGGCACCGCCAGCTCCA	0.597													23	67					0	0	1	0	0	T	79396694	C	T	79396694	2	4	242	1	0	0	0	0	0	0	0	1	6076	639	23	1		1	FRAS1	4	79396694	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	2875228	79396694	111757582	271	11885											
AFF1	4299	broad.mit.edu	37	chr4	87967875	87967875	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggtgatgagctgtctagtcGaatacagaacatgttgggaa	13	10	13	5	1	1	3	0	2	1	1	2	5	1	4	0	2	3	2	0	2	5	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:87967875G>A	ENST00000307808.6	+	3	587	c.167G>A	c.(166-168)cGa>cAa	p.R56Q	AFF1_ENST00000544085.1_Intron|AFF1_ENST00000395146.4_Missense_Mutation_p.R63Q	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	56						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		CTGTCTAGTCGAATACAGAAC	0.373													58	184					0	0	1	0	0	A	87967875	G	A	87967875	3	1	242	1	0	0	0	0	1	0	0	0	355	1058	37	1	219	1	AFF1	4	87967875	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	8571181	87967875	103186401	272	11886											
HERC3	8916	broad.mit.edu	37	chr4	89577167	89577167	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tactgggctgcccacagtggCcagctttcagcccgagctgg	6	8	13	14	1	1	0	1	0	0	0	1	1	1	0	3	3	5	3	3	3	1	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:89577167C>T	ENST00000402738.1	+	9	1289	c.1050C>T	c.(1048-1050)ggC>ggT	p.G350G	HERC3_ENST00000407637.1_Silent_p.G350G|HERC3_ENST00000264345.3_Silent_p.G350G	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	350					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		CCCACAGTGGCCAGCTTTCAG	0.423													9	70					0	0	1	0	0	T	89577167	C	T	89577167	2	4	242	1	0	0	0	0	0	0	0	1	7100	726	26	2		2	HERC3	4	89577167	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1609292	89577167	101577109	273	11887											
FAM13A	10144	broad.mit.edu	37	chr4	89912189	89912189	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgcgattctgcacatgatgCttggctacttttgtcaagaa	10	14	9	8	1	2	2	1	1	1	1	2	3	2	2	0	1	4	3	0	1	3	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:89912189C>T	ENST00000264344.5	-	4	747	c.540G>A	c.(538-540)aaG>aaA	p.K180K	FAM13A_ENST00000511976.1_Intron|FAM13A_ENST00000515600.1_Silent_p.K180K|FAM13A_ENST00000502459.1_5'UTR|FAM13A_ENST00000509094.1_Silent_p.K180K	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	180	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						GCACATGATGCTTGGCTACTT	0.413													4	76					0	0	1	0	0	T	89912189	C	T	89912189	2	4	242	1	0	0	0	0	0	0	0	1	5482	796	28	2		2	FAM13A	4	89912189	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	335022	89912189	101242087	274	11888											
ADH6	130	broad.mit.edu	37	chr4	100134802	100134802	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccttctccaatactctcaaCgattccagccccttcatggc	8	12	4	17	1	3	0	2	0	2	0	7	1	5	0	5	1	3	0	5	1	3	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:100134802C>T	ENST00000394897.1	-	3	305	c.223G>A	c.(223-225)Gtt>Att	p.V75I	ADH6_ENST00000237653.7_Missense_Mutation_p.V75I|RP11-696N14.1_ENST00000506160.1_RNA|RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000407820.2_Intron|RP11-696N14.1_ENST00000506454.1_RNA|ADH6_ENST00000394899.2_Missense_Mutation_p.V75I			P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	75					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	ATACTCTCAACGATTCCAGCC	0.478													22	66					0	0	1	0	0	T	100134802	C	T	100134802	3	4	242	1	0	0	0	0	1	0	0	0	311	536	19	1	936	1	ADH6	4	100134802	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	10222613	100134802	91019474	275	11889											
BANK1	55024	broad.mit.edu	37	chr4	102946626	102946626	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccccgccgcgacctgtagcTaatgccttccaactggaaag	9	7	9	16	3	0	0	0	0	0	0	1	2	1	1	6	1	3	2	6	1	4	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:102946626T>C	ENST00000504592.1	+	13	1927	c.1509T>C	c.(1507-1509)gcT>gcC	p.A503A	BANK1_ENST00000510950.1_3'UTR|BANK1_ENST00000444316.2_Silent_p.A488A|BANK1_ENST00000508653.1_Silent_p.A385A|RP11-498M5.2_ENST00000505091.1_RNA|BANK1_ENST00000322953.4_Silent_p.A518A|BANK1_ENST00000428908.1_Silent_p.A385A			Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	518					B cell activation					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		GACCTGTAGCTAATGCCTTCC	0.438													6	26					0	0	1	0	0	C	102946626	T	C	102946626	2	2	242	1	0	0	0	0	0	0	0	1	1307	1509	53	3		3	BANK1	4	102946626	Silent	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	2811824	102946626	88207650	276	11890											
SYNPO2	171024	broad.mit.edu	37	chr4	119979079	119979079	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacccaaggggatggagacGccaaacatgaaagttagaag	17	4	12	8	1	0	3	0	1	0	2	0	5	0	4	2	3	1	1	2	3	5	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:119979079G>A	ENST00000307142.4	+	5	3972	c.3776G>A	c.(3775-3777)cGc>cAc	p.R1259H	SYNPO2_ENST00000448416.2_3'UTR	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	0						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GGATGGAGACGCCAAACATGA	0.383													15	46					0	0	1	0	0	A	119979079	G	A	119979079	3	1	242	1	0	0	0	0	1	0	0	0	15514	1087	38	1	3906	1	SYNPO2	4	119979079	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	17032453	119979079	71175197	277	11891											
KIAA1109	84162	broad.mit.edu	37	chr4	123260496	123260497	+	Frame_Shift_Del	DEL	TT	TT	-																															actacatatcctgcagagacTttatcccctggaggtaatgc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:123260496_123260497delTT	ENST00000264501.4	+	72	12658_12659	c.12285_12286delTT	c.(12283-12288)actafs	p.TL4095fs	KIAA1109_ENST00000388738.3_Frame_Shift_Del_p.TL4095fs			Q2LD37	K1109_HUMAN	KIAA1109	4095					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CTGCAGAGACTTTATCCCCTGG	0.411													31	85	---	---	---	---						-	123260497	TT	-	123260496	7	5	242	1	0	1	0	1	0	0	0	0	8250	1596	56	0	12563	0	KIAA1109	4	123260496	Frame_Shift_Del	DEL	TT	TCGA-KK-A59V-01A-11D-A29Q-08	3281417	123260496	67893780	278	11892											
FAT4	79633	broad.mit.edu	37	chr4	126373019	126373019	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatccttcacagtctcggacGgtggagatatttgttaatta	11	14	9	7	2	2	1	1	0	1	1	4	3	3	2	1	3	0	1	1	3	4	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:126373019G>A	ENST00000394329.3	+	9	10861	c.10848G>A	c.(10846-10848)acG>acA	p.T3616T	FAT4_ENST00000335110.5_Silent_p.T1914T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3616	Cadherin 34.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGTCTCGGACGGTGGAGATAT	0.438													6	98					0	0	1	0	0	A	126373019	G	A	126373019	2	1	242	1	0	0	0	0	0	0	0	1	5725	1103	39	1		1	FAT4	4	126373019	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	3112523	126373019	64781257	279	11893											
GYPA	2993	broad.mit.edu	37	chr4	145038028	145038028	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttatcagtcggcgaataccGtaagaaattaagaggatcgt	14	11	10	6	4	1	2	1	0	0	2	3	4	1	3	1	2	1	1	1	2	6	5	rs140442202		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:145038028G>A	ENST00000360771.4	-	5	451	c.336C>T	c.(334-336)taC>taT	p.Y112Y	GYPA_ENST00000512064.1_Silent_p.Y99Y|GYPA_ENST00000512789.1_Silent_p.Y47Y|GYPA_ENST00000535709.1_Silent_p.Y86Y|GYPB_ENST00000283126.7_Intron|GYPA_ENST00000324022.10_Silent_p.Y79Y|GYPA_ENST00000504786.1_Silent_p.Y80Y|GYPA_ENST00000503627.1_Silent_p.Y67Y|RP11-673E1.4_ENST00000506982.1_RNA	NM_002099.6	NP_002090.4	P02724	GLPA_HUMAN	glycophorin A (MNS blood group)	112					interspecies interaction between organisms	membrane fraction	receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10	all_hematologic(180;0.15)					GGCGAATACCGTAAGAAATTA	0.368													38	90					0	0	1	0	0	A	145038028	G	A	145038028	2	1	242	1	0	0	0	0	0	0	0	1	6949	1140	40	1		1	GYPA	4	145038028	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	18665009	145038028	46116248	280	11894											
FSTL5	56884	broad.mit.edu	37	chr4	162680660	162680660	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacaatcaaagagatccttGccaagttcttcctgttttat	11	15	6	9	0	2	1	1	0	1	1	4	2	4	1	3	0	2	3	3	0	5	6			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:162680660G>A	ENST00000306100.5	-	6	1066	c.630C>T	c.(628-630)ggC>ggT	p.G210G	FSTL5_ENST00000427802.2_Silent_p.G209G|FSTL5_ENST00000536695.1_Silent_p.G209G|FSTL5_ENST00000379164.4_Silent_p.G209G	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	210	EF-hand 1.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		AGAGATCCTTGCCAAGTTCTT	0.284													17	50					0	0	1	0	0	A	162680660	G	A	162680660	2	1	242	1	0	0	0	0	0	0	0	1	6115	1306	46	2		2	FSTL5	4	162680660	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	17642632	162680660	28473616	281	11895											
TRIM60	166655	broad.mit.edu	37	chr4	165962457	165962457	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcttctgccagtagtaaaAcccagtaaaattggtatttt	13	13	7	8	0	1	0	0	0	1	0	1	0	1	0	2	1	3	5	2	1	6	8			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:165962457A>G	ENST00000512596.1	+	3	1449	c.1233A>G	c.(1231-1233)aaA>aaG	p.K411K	TRIM60_ENST00000341062.5_Silent_p.K411K|TRIM60_ENST00000508504.1_Silent_p.K411K	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	411	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		CAGTAGTAAAACCCAGTAAAA	0.398													25	74					0	0	1	0	0	G	165962457	A	G	165962457	2	3	242	1	0	0	0	0	0	0	0	1	16596	40	2	3		3	TRIM60	4	165962457	Silent	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	3281797	165962457	25191819	282	11896											
ACSL1	2180	broad.mit.edu	37	chr4	185697797	185697797	+	Frame_Shift_Del	DEL	A	A	-																															gccttctctggcttgtcaacAaaaaccagagagagttcagc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:185697797delA	ENST00000515030.1	-	7	922	c.597delT	c.(595-597)ttfs	p.F199fs	ACSL1_ENST00000513317.1_Frame_Shift_Del_p.F199fs|ACSL1_ENST00000454703.2_Frame_Shift_Del_p.F28fs|ACSL1_ENST00000507295.1_Frame_Shift_Del_p.F165fs|ACSL1_ENST00000504900.1_Frame_Shift_Del_p.F199fs|ACSL1_ENST00000281455.2_Frame_Shift_Del_p.F199fs|ACSL1_ENST00000437665.3_Frame_Shift_Del_p.F28fs|ACSL1_ENST00000504342.1_Frame_Shift_Del_p.F199fs			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	199					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GCTTGTCAACAAAAACCAGAG	0.393													16	39	---	---	---	---						-	185697797	A	-	185697797	7	5	242	1	0	1	0	1	0	0	0	0	177	127	5	0	1559	0	ACSL1	4	185697797	Frame_Shift_Del	DEL	A	TCGA-KK-A59V-01A-11D-A29Q-08	19735340	185697797	5456479	283	11897											
CYP4V2	285440	broad.mit.edu	37	chr4	187130278	187130278	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctaaaaggcactgaagcCgtcatcattccctatgcatt	11	12	7	11	1	3	1	2	1	1	0	4	1	4	1	2	1	2	3	2	1	4	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr4:187130278C>T	ENST00000378802.4	+	10	1561	c.1257C>T	c.(1255-1257)gcC>gcT	p.A419A	CYP4V2_ENST00000502665.1_3'UTR	NM_207352.3	NP_997235.3	Q6ZWL3	CP4V2_HUMAN	cytochrome P450, family 4, subfamily V, polypeptide 2	419					response to stimulus|visual perception	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		GCACTGAAGCCGTCATCATTC	0.502													6	133					0	0	1	0	0	T	187130278	C	T	187130278	2	4	242	1	0	0	0	0	0	0	0	1	4215	639	23	1		1	CYP4V2	4	187130278	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1432481	187130278	4023998	284	11898											
TPPP	11076	broad.mit.edu	37	chr5	666151	666151	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctcgcgaacggcctcctcGctgctcttgtctttgaatcg	5	12	9	15	5	2	1	0	1	2	0	6	2	3	1	3	1	2	2	3	1	2	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:666151G>T	ENST00000360578.5	-	3	520	c.399C>A	c.(397-399)agC>agA	p.S133R	CEP72_ENST00000514507.1_3'UTR	NM_007030.2	NP_008961.1	O94811	TPPP_HUMAN	tubulin polymerization promoting protein	133					microtubule bundle formation|microtubule polymerization|positive regulation of protein polymerization	nucleus|perinuclear region of cytoplasm|soluble fraction	calcium ion binding|microtubule binding			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		Ovarian(839;0.0563)	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	GBM - Glioblastoma multiforme(108;0.0191)		CGGCCTCCTCGCTGCTCTTGT	0.632													5	112					0.184627	0.184969	1	1	0	T	666151	G	T	666151	3	4	242	1	0	0	0	0	1	0	0	0	16474	1078	38	4	268	4	TPPP	5	666151	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08		666151	180249109	285	11899											
BRD9	65980	broad.mit.edu	37	chr5	889777	889777	+	Frame_Shift_Del	DEL	A	A	-																															tttcggctgacaatttaaggAaaaaaaaattgaatacaaga																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:889777delA	ENST00000323510.4	-	1	37	c.38delT	c.(37-39)tcfs	p.F13fs	BRD9_ENST00000467963.1_Intron|BRD9_ENST00000388890.4_Frame_Shift_Del_p.F13fs|BRD9_ENST00000483173.1_Intron|BRD9_ENST00000435709.2_Frame_Shift_Del_p.F13fs			Q9H8M2	BRD9_HUMAN	bromodomain containing 9	0							nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			CAATTTAAGGAAAAAAAAATT	0.448													19	69	---	---	---	---						-	889777	A	-	889777	7	5	242	1	0	1	0	1	0	0	0	0	1509	261	9	0		0	BRD9	5	889777	Frame_Shift_Del	DEL	A	TCGA-KK-A59V-01A-11D-A29Q-08	223626	889777	180025483	286	11900											
LPCAT1	79888	broad.mit.edu	37	chr5	1470989	1470989	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtccgggccggccggcagacGacagacagggcaaccacaca	11	1	14	15	4	0	2	0	0	0	2	1	3	1	2	4	4	1	2	4	4	1	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:1470989G>A	ENST00000283415.3	-	12	1362	c.1230C>T	c.(1228-1230)gtC>gtT	p.V410V		NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	410	EF-hand 1.				phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		GCCGGCAGACGACAGACAGGG	0.657													40	103					0	0	1	0	0	A	1470989	G	A	1470989	2	1	242	1	0	0	0	0	0	0	0	1	8955	1045	37	1		1	LPCAT1	5	1470989	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	581212	1470989	179444271	287	11901											
C5orf38	153571	broad.mit.edu	37	chr5	2755291	2755291	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actgagaaggccggggcgctCgccgggcgcggcgccgtcct	4	4	18	15	8	0	1	0	1	0	1	2	2	1	1	4	5	0	1	4	5	1	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:2755291C>T	ENST00000397835.4	+	3	482	c.482C>T	c.(481-483)tCg>tTg	p.S161L	C5orf38_ENST00000334000.3_3'UTR			Q86SI9	CEI_HUMAN	chromosome 5 open reading frame 38	47						extracellular region				endometrium(2)|large_intestine(1)|lung(1)	4				GBM - Glioblastoma multiforme(108;0.205)		ccggggcgctcgccgggcgcg	0.791													11	18					0	0	1	0	0	T	2755291	C	T	2755291	3	4	242	1	0	0	0	0	1	0	0	0	2311	899	31	1		1	C5orf38	5	2755291	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1284302	2755291	178159969	288	11902											
KIAA0947	23379	broad.mit.edu	37	chr5	5462084	5462084	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccaaattggaacacttgagGccacatagggttgagcctac	12	8	11	10	0	0	2	0	2	0	0	0	3	0	3	3	3	3	1	3	3	4	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:5462084G>A	ENST00000296564.7	+	13	2859	c.2637G>A	c.(2635-2637)agG>agA	p.R879R		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	879										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AACACTTGAGGCCACATAGGG	0.418													29	91					0	0	1	0	0	A	5462084	G	A	5462084	2	1	242	1	0	0	0	0	0	0	0	1	8244	1194	42	2		2	KIAA0947	5	5462084	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	2706793	5462084	175453176	289	11903											
FAM173B	134145	broad.mit.edu	37	chr5	10227710	10227710	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaaccggcaagcaataactCgtgcatcatcctcaagttca	13	8	8	12	2	3	0	3	0	0	0	5	1	4	1	2	2	4	4	2	2	5	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:10227710C>T	ENST00000280330.8	-	6	659	c.53G>A	c.(52-54)cGa>cAa	p.R18Q	FAM173B_ENST00000511437.1_Missense_Mutation_p.R182Q|FAM173B_ENST00000510052.1_5'UTR|FAM173B_ENST00000510047.1_Missense_Mutation_p.R165Q			Q6P4H8	F173B_HUMAN	family with sequence similarity 173, member B	182						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	16						AGCAATAACTCGTGCATCATC	0.478													18	43					0	0	1	0	0	T	10227710	C	T	10227710	3	4	242	1	0	0	0	0	1	0	0	0	5524	884	31	1	160	1	FAM173B	5	10227710	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	4765626	10227710	170687550	290	11904											
CMBL	134147	broad.mit.edu	37	chr5	10290659	10290659	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaacacaactttatacataCgtgtatccatttcctgagat	14	13	5	9	1	0	1	0	1	0	1	2	3	2	1	2	0	4	1	2	0	6	6			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:10290659C>T	ENST00000296658.3	-	2	636		c.e2+1		CMBL_ENST00000510532.1_Splice_Site	NM_138809.3	NP_620164.1	Q96DG6	CMBL_HUMAN	carboxymethylenebutenolidase homolog (Pseudomonas)							cytosol	hydrolase activity|protein binding			endometrium(1)|large_intestine(1)|lung(9)|skin(1)|stomach(1)	13						TTTATACATACGTGTATCCAT	0.348													30	63					0	0	1	0	0	T	10290659	C	T	10290659	5	4	242	1	0	0	0	0	0	0	1	0	3599	550	19	1	541	1	CMBL	5	10290659	Splice_Site	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	62949	10290659	170624601	291	11905											
CTNND2	1501	broad.mit.edu	37	chr5	11082852	11082852	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaaggccatgttccgcagcGcagtggccaccgcgcacacc	8	4	11	18	4	0	0	0	0	0	0	1	0	1	0	6	2	1	4	6	2	1	1	rs139037354		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:11082852G>A	ENST00000304623.8	-	16	2933	c.2744C>T	c.(2743-2745)gCg>gTg	p.A915V	CTNND2_ENST00000503622.1_Missense_Mutation_p.A578V|CTNND2_ENST00000511377.1_Missense_Mutation_p.A824V|CTNND2_ENST00000359640.2_Missense_Mutation_p.A857V|CTNND2_ENST00000458100.2_Missense_Mutation_p.A482V|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	915					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GTTCCGCAGCGCAGTGGCCAC	0.512													23	83					0	0	1	0	0	A	11082852	G	A	11082852	3	1	242	1	0	0	0	0	1	0	0	0	4044	1087	38	1	961	1	CTNND2	5	11082852	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	792193	11082852	169832408	292	11906											
TRIO	7204	broad.mit.edu	37	chr5	14366990	14366990	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctgggttggatccgcaacGgagagtccatgttaaatgcc	9	10	13	9	2	0	1	0	0	0	1	2	3	2	2	3	3	3	4	3	3	3	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:14366990G>A	ENST00000344204.4	+	16	2800	c.2776G>A	c.(2776-2778)Gga>Aga	p.G926R	TRIO_ENST00000537187.1_Missense_Mutation_p.G926R|TRIO_ENST00000509967.2_Missense_Mutation_p.G877R	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	926					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GATCCGCAACGGAGAGTCCAT	0.537													28	106					0	0	1	0	0	A	14366990	G	A	14366990	3	1	242	1	0	0	0	0	1	0	0	0	16613	1117	39	1	2838	1	TRIO	5	14366990	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	3284138	14366990	166548270	293	11907											
FBXL7	23194	broad.mit.edu	37	chr5	15928442	15928442	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtctcatgctggaaaccGtaactgtcagtggctgcagg	8	11	13	9	1	2	0	2	0	1	0	3	1	2	1	1	3	4	4	1	3	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:15928442G>A	ENST00000504595.1	+	3	1052	c.571G>A	c.(571-573)Gta>Ata	p.V191I	FBXL7_ENST00000329673.7_Missense_Mutation_p.V179I|FBXL7_ENST00000510662.1_Missense_Mutation_p.V144I	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	191					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						GCTGGAAACCGTAACTGTCAG	0.627													11	34					0	0	1	0	0	A	15928442	G	A	15928442	3	1	242	1	0	0	0	0	1	0	0	0	5757	1145	40	1	581	1	FBXL7	5	15928442	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1561452	15928442	164986818	294	11908											
C5orf22	55322	broad.mit.edu	37	chr5	31538687	31538687	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcaggaatgccagactgctgCcagcactggggaaattctgg	10	8	13	10	0	2	1	1	0	1	1	2	3	2	3	2	4	4	2	2	4	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:31538687C>T	ENST00000325366.9	+	4	825	c.698C>T	c.(697-699)gCc>gTc	p.A233V	C5orf22_ENST00000355907.3_5'UTR	NM_018356.2	NP_060826.2	Q49AR2	CE022_HUMAN	chromosome 5 open reading frame 22	233										kidney(3)|large_intestine(2)|lung(10)|ovary(2)|skin(1)	18						CAGACTGCTGCCAGCACTGGG	0.408													9	27					0	0	1	0	0	T	31538687	C	T	31538687	3	4	242	1	0	0	0	0	1	0	0	0	2300	739	26	2	712	2	C5orf22	5	31538687	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	15610245	31538687	149376573	295	11909											
PDZD2	23037	broad.mit.edu	37	chr5	32059348	32059348	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggtgcctctcacagagcCaagagttggattaggcattg	11	10	12	8	0	1	2	1	0	1	2	2	3	1	3	2	3	2	2	2	3	3	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:32059348C>T	ENST00000438447.1	+	13	2592	c.2204C>T	c.(2203-2205)cCa>cTa	p.P735L	PDZD2_ENST00000282493.3_Missense_Mutation_p.P735L			O15018	PDZD2_HUMAN	PDZ domain containing 2	735	PDZ 4.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CTCACAGAGCCAAGAGTTGGA	0.408													5	20					0	0	1	0	0	T	32059348	C	T	32059348	3	4	242	1	0	0	0	0	1	0	0	0	11748	594	21	2	2250	2	PDZD2	5	32059348	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	520661	32059348	148855912	296	11910											
MTMR12	54545	broad.mit.edu	37	chr5	32263257	32263257	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttcgttgacactcactgcTttgtacttcatgttgccttt	5	18	6	12	1	2	1	2	1	0	0	3	1	2	1	2	0	3	4	2	0	1	7			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:32263257T>G	ENST00000382142.3	-	7	845	c.675A>C	c.(673-675)aaA>aaC	p.K225N	MTMR12_ENST00000264934.5_Missense_Mutation_p.K225N|MTMR12_ENST00000280285.5_Missense_Mutation_p.K225N	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	225	Myotubularin phosphatase.					cytoplasm	phosphatase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CACTCACTGCTTTGTACTTCA	0.433													32	79					0	0	1	0	0	G	32263257	T	G	32263257	3	3	242	1	0	0	0	0	1	0	0	0	9989	1606	56	5	1608	5	MTMR12	5	32263257	Missense_Mutation	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	203909	32263257	148652003	297	11911											
TARS	6897	broad.mit.edu	37	chr5	33459802	33459802	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtttattttctatcagagCgaatataggaaaagaggatt	14	14	9	4	1	2	2	1	0	1	2	2	5	2	4	0	2	1	1	0	2	7	8			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:33459802C>T	ENST00000265112.3	+	11	1397	c.1086C>T	c.(1084-1086)agC>agT	p.S362S	TARS_ENST00000502553.1_Silent_p.S362S|TARS_ENST00000414361.2_Silent_p.S241S|TARS_ENST00000455217.2_Silent_p.S395S|TARS_ENST00000541634.1_Silent_p.S258S	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	362					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	TCTATCAGAGCGAATATAGGA	0.418													22	46					0	0	1	0	0	T	33459802	C	T	33459802	2	4	242	1	0	0	0	0	0	0	0	1	15616	767	27	1		1	TARS	5	33459802	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1196545	33459802	147455458	298	11912											
NIPBL	25836	broad.mit.edu	37	chr5	37064774	37064774	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagagtagtgcagaaaaccaGcagtggcttcagtgttcagt	13	9	12	7	0	2	2	2	0	0	2	2	2	2	2	1	1	3	5	1	1	4	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:37064774G>A	ENST00000282516.8	+	47	8694	c.8195G>A	c.(8194-8196)aGc>aAc	p.S2732N		NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2732					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CAGAAAACCAGCAGTGGCTTC	0.507													59	123					0	0	1	0	0	A	37064774	G	A	37064774	3	1	242	1	0	0	0	0	1	0	0	0	10475	971	34	2	8422	2	NIPBL	5	37064774	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	3604972	37064774	143850486	299	11913											
PLCXD3	345557	broad.mit.edu	37	chr5	41313799	41313799	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaccaagttctacaaaatCggcagtgacaatattgatgc	14	10	8	9	1	2	2	1	2	1	0	3	2	2	2	1	1	2	2	1	1	6	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:41313799C>A	ENST00000377801.3	-	3	960	c.886G>T	c.(886-888)Gat>Tat	p.D296Y	PLCXD3_ENST00000328457.3_Missense_Mutation_p.D296Y			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	296					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TCTACAAAATCGGCAGTGACA	0.448													16	41					5.01169e-05	5.13023e-05	1	1	0	A	41313799	C	A	41313799	3	1	242	1	0	0	0	0	1	0	0	0	12091	884	31	4	83	4	PLCXD3	5	41313799	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	4249025	41313799	139601461	300	11914											
CWC27	10283	broad.mit.edu	37	chr5	64100133	64100134	+	Frame_Shift_Ins	INS	-	-	A																															tgatgagagaaagaattgccINSaaaaaattaaaaaaggacac																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:64100133_64100134insA	ENST00000508024.1	+	10	1059_1060	c.858_859insA	c.(856-861)gcaaaafs	p.AK286fs	CWC27_ENST00000381070.3_Frame_Shift_Ins_p.AK286fs			Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)	286					protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity	p.K288fs*2(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						AAAGAATTGCCAAAAAATTAAA	0.391													17	49	---	---	---	---						A	64100134	-	A	64100133	7	5	242	1	0	1	1	0	0	0	0	0	4093	581	21	0	896	0	CWC27	5	64100133	Frame_Shift_Ins	INS	-	TCGA-KK-A59V-01A-11D-A29Q-08	22786334	64100133	116815127	301	11915											
MRPS27	23107	broad.mit.edu	37	chr5	71524028	71524028	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaaattacaattttattaTgaactggaagaatgcaacaa	19	12	5	5	0	1	2	1	1	0	1	1	3	1	3	0	1	4	1	0	1	10	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:71524028T>C	ENST00000515404.1	-	8	744	c.591A>G	c.(589-591)tcA>tcG	p.S197S	MRPS27_ENST00000513900.1_Intron|MRPS27_ENST00000457646.4_Intron|MRPS27_ENST00000522562.1_Intron|MRPS27_ENST00000261413.5_Intron			Q92552	RT27_HUMAN	mitochondrial ribosomal protein S27	0						mitochondrion|ribosome				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-53)		AATTTTATTATGAACTGGAAG	0.328													8	13					0	0	1	0	0	C	71524028	T	C	71524028	2	2	242	1	0	0	0	0	0	0	0	1	9887	1479	51	3		3	MRPS27	5	71524028	Silent	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	7423895	71524028	109391232	302	11916											
ZNF366	0	broad.mit.edu	37	chr5	71756273	71756273	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcttcgtgggccttgagctCgctggggtaggcaaagccgc	5	8	17	11	3	0	1	0	1	0	0	2	1	0	1	2	5	2	5	2	5	2	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:71756273C>T	ENST00000318442.5	-	2	1541	c.1051G>A	c.(1051-1053)Gag>Aag	p.E351K		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	351					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GCCTTGAGCTCGCTGGGGTAG	0.647													11	43					0	0	1	0	0	T	71756273	C	T	71756273	3	4	242	1	0	0	0	0	1	0	0	0	17927	893	31	1	1199	1	ZNF366	5	71756273	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	232245	71756273	109158987	303	11917											
TMEM171	134285	broad.mit.edu	37	chr5	72419582	72419582	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagcggcatgctcatcagcGtcctgggcatttgggtccct	6	10	12	13	2	2	0	2	0	0	0	4	0	4	0	2	3	3	3	2	3	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:72419582G>A	ENST00000454765.2	+	2	855	c.382G>A	c.(382-384)Gtc>Atc	p.V128I	TMEM171_ENST00000287773.5_Missense_Mutation_p.V128I			Q8WVE6	TM171_HUMAN	transmembrane protein 171	128						integral to membrane				endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)	15		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)		GCTCATCAGCGTCCTGGGCAT	0.587													6	162					0	0	1	0	0	A	72419582	G	A	72419582	3	1	242	1	0	0	0	0	1	0	0	0	16148	1145	40	1	384	1	TMEM171	5	72419582	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	663309	72419582	108495678	304	11918											
CKMT2	1160	broad.mit.edu	37	chr5	80548556	80548556	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcacaacaactgcatggcCgagtgcctcacccccgccat	11	5	8	17	2	1	0	1	0	0	0	1	1	1	0	5	1	5	2	5	1	3	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:80548556C>T	ENST00000424301.2	+	4	433	c.195C>T	c.(193-195)gcC>gcT	p.A65A	CTC-281B15.1_ENST00000503483.2_RNA|CTC-281B15.1_ENST00000512287.1_RNA|CTC-281B15.1_ENST00000501927.2_RNA|CKMT2_ENST00000437669.1_Silent_p.A65A|CTC-281B15.1_ENST00000505295.1_RNA|CTC-281B15.1_ENST00000511495.1_RNA|CTC-281B15.1_ENST00000500148.2_RNA|CTC-281B15.1_ENST00000502041.2_RNA|CKMT2_ENST00000254035.4_Silent_p.A65A	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)	65	Phosphagen kinase N-terminal.				creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	ACTGCATGGCCGAGTGCCTCA	0.622													21	62					0	0	1	0	0	T	80548556	C	T	80548556	2	4	242	1	0	0	0	0	0	0	0	1	3474	639	23	1		1	CKMT2	5	80548556	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	8128974	80548556	100366704	305	11919											
GPR98	84059	broad.mit.edu	37	chr5	90149114	90149114	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgtagaagcaaaaccatcCttgatagttgcccatatttg	12	13	8	8	0	0	2	0	1	0	1	1	2	1	2	3	0	3	4	3	0	6	7			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:90149114C>T	ENST00000405460.2	+	80	17314	c.17218C>T	c.(17218-17220)Ctt>Ttt	p.L5740F	GPR98_ENST00000425867.2_Missense_Mutation_p.L1401F	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5740					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CAAAACCATCCTTGATAGTTG	0.353													4	108					0	0	1	0	0	T	90149114	C	T	90149114	3	4	242	1	0	0	0	0	1	0	0	0	6762	681	24	2	17536	2	GPR98	5	90149114	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	9600558	90149114	90766146	306	11920											
GPR98	84059	broad.mit.edu	37	chr5	90368409	90368409	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatgtcttcagaggaaggAcaaatgctgcaggtttgaaa	14	10	12	5	0	2	3	1	2	1	1	2	5	2	5	0	3	2	3	0	3	3	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:90368409A>G	ENST00000405460.2	+	86	18394	c.18298A>G	c.(18298-18300)Aca>Gca	p.T6100A	GPR98_ENST00000425867.2_Missense_Mutation_p.T1761A	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	6100					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CAGAGGAAGGACAAATGCTGC	0.428													42	142					0	0	1	0	0	G	90368409	A	G	90368409	3	3	242	1	0	0	0	0	1	0	0	0	6762	275	10	3	18640	3	GPR98	5	90368409	Missense_Mutation	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	219295	90368409	90546851	307	11921											
RHOBTB3	22836	broad.mit.edu	37	chr5	95091242	95091242	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcccacaagatcgttctctgCgctgtaagccatgttttcat	8	13	8	12	2	2	1	1	0	1	1	4	1	2	1	2	0	2	4	2	0	2	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:95091242C>T	ENST00000379982.3	+	6	1333	c.825C>T	c.(823-825)tgC>tgT	p.C275C	GLRX_ENST00000508780.1_Intron	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	275	BTB 1.				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		TCGTTCTCTGCGCTGTAAGCC	0.428													8	120					0	0	1	0	0	T	95091242	C	T	95091242	2	4	242	1	0	0	0	0	0	0	0	1	13385	776	27	1		1	RHOBTB3	5	95091242	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	4722833	95091242	85824018	308	11922											
DCP2	167227	broad.mit.edu	37	chr5	112327915	112327915	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgggagtaccaacatatggTgcaattattcttgatgagac	13	12	10	6	0	1	2	0	2	1	1	1	4	1	3	1	2	3	2	1	2	5	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:112327915T>C	ENST00000389063.2	+	3	501	c.303T>C	c.(301-303)ggT>ggC	p.G101G	DCP2_ENST00000543319.1_Intron|DCP2_ENST00000515408.1_Silent_p.G101G	NM_152624.5	NP_689837.2	Q8IU60	DCP2_HUMAN	decapping mRNA 2	101	Nudix hydrolase.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex	exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|RNA binding			endometrium(3)|large_intestine(6)|lung(1)	10		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)		CAACATATGGTGCAATTATTC	0.328													23	76					0	0	1	0	0	C	112327915	T	C	112327915	2	2	242	1	0	0	0	0	0	0	0	1	4323	1683	59	3		3	DCP2	5	112327915	Silent	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	17236673	112327915	68587345	309	11923											
CCDC112	153733	broad.mit.edu	37	chr5	114610974	114610974	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttttcatgctgttgaactTcatcttgtgtttttccagga	7	20	7	7	0	3	1	2	1	1	0	4	2	4	2	1	1	2	3	1	1	1	7			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:114610974T>C	ENST00000379611.5	-	6	1144	c.857A>G	c.(856-858)gAa>gGa	p.E286G	CCDC112_ENST00000506442.1_Missense_Mutation_p.E203G|CCDC112_ENST00000512261.1_Missense_Mutation_p.E203G|CCDC112_ENST00000395557.4_Missense_Mutation_p.E203G	NM_001040440.2	NP_001035530.1	Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112	203										endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		CTGTTGAACTTCATCTTGTGT	0.323													9	58					0	0	1	0	0	C	114610974	T	C	114610974	3	2	242	1	0	0	0	0	1	0	0	0	2767	1783	62	3	752	3	CCDC112	5	114610974	Missense_Mutation	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	2283059	114610974	66304286	310	11924											
FAM170A	340069	broad.mit.edu	37	chr5	118969736	118969736	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgaggagagactcctccccGctcacaacatgtctccttgt	9	9	8	15	2	2	1	1	0	1	1	5	4	4	2	4	1	1	1	4	1	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:118969736G>A	ENST00000515256.1	+	3	465	c.293G>A	c.(292-294)cGc>cAc	p.R98H				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	98						intracellular	zinc ion binding	p.R98H(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						ACTCCTCCCCGCTCACAACAT	0.483													23	66					0	0	1	0	0	A	118969736	G	A	118969736	3	1	242	1	0	0	0	0	1	0	0	0	5519	1087	38	1	303	1	FAM170A	5	118969736	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	4358762	118969736	61945524	311	11925											
FTMT	94033	broad.mit.edu	37	chr5	121188336	121188336	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccccggatgctggcctggcGgagtacctttttgacacaca	7	9	12	13	2	0	1	0	1	0	0	0	3	0	3	4	4	2	2	4	4	1	3	rs148052592		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:121188336G>A	ENST00000321339.1	+	1	687	c.678G>A	c.(676-678)gcG>gcA	p.A226A		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	226					cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		CTGGCCTGGCGGAGTACCTTT	0.502													45	140					0	0	1	0	0	A	121188336	G	A	121188336	2	1	242	1	0	0	0	0	0	0	0	1	6120	1103	39	1		1	FTMT	5	121188336	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	2218600	121188336	59726924	312	11926											
ACSL6	23305	broad.mit.edu	37	chr5	131325195	131325195	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccccagaaattcagccctgtCggccacctgcacacagatgt	10	7	8	16	1	1	2	1	0	0	2	2	2	1	2	5	1	2	1	5	1	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:131325195C>T	ENST00000379264.2	-	5	565	c.457G>A	c.(457-459)Gac>Aac	p.D153N	ACSL6_ENST00000296869.4_Missense_Mutation_p.D153N|ACSL6_ENST00000544770.1_Missense_Mutation_p.D37N|ACSL6_ENST00000379255.1_Missense_Mutation_p.D93N|ACSL6_ENST00000379249.3_Missense_Mutation_p.D128N|ACSL6_ENST00000379240.1_Missense_Mutation_p.D128N|ACSL6_ENST00000379272.2_Missense_Mutation_p.D128N|ACSL6_ENST00000379246.1_Missense_Mutation_p.D139N|ACSL6_ENST00000379244.1_Missense_Mutation_p.D128N|ACSL6_ENST00000431707.1_Missense_Mutation_p.D93N|ACSL6_ENST00000543479.1_Missense_Mutation_p.D128N|ACSL6_ENST00000357096.1_Missense_Mutation_p.D93N	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	128					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCAGCCCTGTCGGCCACCTGC	0.458													6	100					0	0	1	0	0	T	131325195	C	T	131325195	3	4	242	1	0	0	0	0	1	0	0	0	181	884	31	1	1861	1	ACSL6	5	131325195	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	10136859	131325195	49590065	313	11927											
ZCCHC10	54819	broad.mit.edu	37	chr5	132335879	132335879	+	Frame_Shift_Del	DEL	G	G	-																															tccaatgctgataaacacgaGggggaaaaaagctcctgtta																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:132335879delG	ENST00000513541.1	-	4	295	c.284delC	c.(283-285)ctfs	p.P95fs	ZCCHC10_ENST00000324170.3_Intron|ZCCHC10_ENST00000509437.1_Intron|ZCCHC10_ENST00000355372.2_Intron|ZCCHC10_ENST00000513848.1_Intron|ZCCHC10_ENST00000508080.1_5'UTR|ZCCHC10_ENST00000509008.1_Frame_Shift_Del_p.P73fs			Q8TBK6	ZCH10_HUMAN	zinc finger, CCHC domain containing 10	0							nucleic acid binding|zinc ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATAAACACGAGGGGGAAAAAA	0.368													19	38	---	---	---	---						-	132335879	G	-	132335879	7	5	242	1	0	1	0	1	0	0	0	0	17638	1015	35	0		0	ZCCHC10	5	132335879	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	1010684	132335879	48579381	314	11928											
DDX46	9879	broad.mit.edu	37	chr5	134118636	134118636	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgggttttgttttgtagaGgtaaatgtgtttcgattgga	7	19	13	2	1	1	1	0	0	1	1	2	3	1	2	0	3	0	5	0	3	3	8			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:134118636G>T	ENST00000452510.2	+	9	1205	c.1045_splice	c.e9-1	p.E349_splice	DDX46_ENST00000354283.4_Splice_Site_p.E349_splice|DDX46_ENST00000509178.1_3'UTR	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	349					mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTTTTGTAGAGGTAAATGTGT	0.343													8	64					0.00621372	0.0062834	1	1	0	T	134118636	G	T	134118636	5	4	242	1	0	0	0	0	0	0	1	0	4387	1014	35	4	1081	4	DDX46	5	134118636	Splice_Site	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1782757	134118636	46796624	315	11929											
TGFBI	7045	broad.mit.edu	37	chr5	135382150	135382150	+	Frame_Shift_Del	DEL	C	C	-																															cggcagcttcaccatcttcgCccctagcaacgaggcctggg																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:135382150delC	ENST00000442011.2	+	4	586	c.425delC	c.(424-426)gcfs	p.A142fs	TGFBI_ENST00000305126.8_Frame_Shift_Del_p.A142fs	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	142	FAS1 1.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACCATCTTCGCCCCTAGCAAC	0.642													16	13	---	---	---	---						-	135382150	C	-	135382150	7	5	242	1	0	1	0	1	0	0	0	0	15880	739	26	0	439	0	TGFBI	5	135382150	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	1263514	135382150	45533110	316	11930											
MYOT	9499	broad.mit.edu	37	chr5	137206474	137206474	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccattatcatccagccccGccagtgtacagagcaaagat	12	9	7	13	1	1	2	1	0	0	2	3	2	3	2	5	0	3	2	5	0	3	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:137206474G>A	ENST00000239926.4	+	2	508	c.134G>A	c.(133-135)cGc>cAc	p.R45H	MYOT_ENST00000509812.1_Intron|MYOT_ENST00000515645.1_Intron|MYOT_ENST00000421631.2_Intron|RP11-381K20.2_ENST00000514616.1_RNA	NM_006790.2	NP_006781.1	Q9UBF9	MYOTI_HUMAN	myotilin	45					muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle			cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ATCCAGCCCCGCCAGTGTACA	0.537													58	76					0	0	1	0	0	A	137206474	G	A	137206474	3	1	242	1	0	0	0	0	1	0	0	0	10142	1087	38	1	136	1	MYOT	5	137206474	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1824324	137206474	43708786	317	11931											
REEP2	51308	broad.mit.edu	37	chr5	137777145	137777147	+	In_Frame_Del	DEL	CTC	CTC	-																															acgctcacggatatagtgctCtcctggtgaggtccagcgtc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:137777145_137777147delCTC	ENST00000378339.2	+	3	369_371	c.177_179delCTC	c.(175-180)ctc>ct	p.LS59del	REEP2_ENST00000464751.2_3'UTR|REEP2_ENST00000506158.1_In_Frame_Del_p.LS21del|REEP2_ENST00000254901.5_In_Frame_Del_p.LS59del	NM_001271803.1	NP_001258732.1	Q9BRK0	REEP2_HUMAN	receptor accessory protein 2	59						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			ATATAGTGCTCTCCTGGTGAGGT	0.591													21	67	---	---	---	---						-	137777147	CTC	-	137777145	7	5	242	1	0	1	0	1	0	0	0	0	13257	900	32	0	187	0	REEP2	5	137777145	In_Frame_Del	DEL	CTC	TCGA-KK-A59V-01A-11D-A29Q-08	570671	137777145	43138115	318	11932											
EGR1	1958	broad.mit.edu	37	chr5	137802682	137802682	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctccagcggcctcctccGcctccgcctcccagagccca	5	6	7	23	3	1	1	0	0	1	1	6	1	5	1	9	1	2	0	9	1	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:137802682G>A	ENST00000239938.4	+	2	816	c.544G>A	c.(544-546)Gcc>Acc	p.A182T		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	182					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A182T(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GGCCTCCTCCGCCTCCGCCTC	0.652													37	236					0	0	1	0	0	A	137802682	G	A	137802682	3	1	242	1	0	0	0	0	1	0	0	0	4997	1087	38	1	550	1	EGR1	5	137802682	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	25537	137802682	43112578	319	11933											
NRG2	9542	broad.mit.edu	37	chr5	139260510	139260510	+	Frame_Shift_Del	DEL	C	C	-																															ctcggcctcgcagacatactCcccagcgtcctccaccttca																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:139260510delC	ENST00000541337.1	-	3	1151	c.922delG	c.(922-924)agfs	p.E308fs	NRG2_ENST00000394770.1_Frame_Shift_Del_p.E308fs|NRG2_ENST00000545385.1_Frame_Shift_Del_p.E308fs|NRG2_ENST00000340391.3_Frame_Shift_Del_p.E105fs|NRG2_ENST00000361474.1_Frame_Shift_Del_p.E308fs|NRG2_ENST00000289422.7_Frame_Shift_Del_p.E308fs|NRG2_ENST00000358522.3_Frame_Shift_Del_p.E308fs|NRG2_ENST00000289409.4_Frame_Shift_Del_p.E308fs|NRG2_ENST00000518130.1_5'UTR	NM_001184935.1	NP_001171864.1	O14511	NRG2_HUMAN	neuregulin 2	351	Ig-like C2-type.				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGACATACTCCCCAGCGTCC	0.607													9	82	---	---	---	---						-	139260510	C	-	139260510	7	5	242	1	0	1	0	1	0	0	0	0	10696	864	30	0	1753	0	NRG2	5	139260510	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	1457828	139260510	41654750	320	11934											
PCDHA3	0	broad.mit.edu	37	chr5	140182290	140182290	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggcgggtgggggagcgcgCgctgtcgagctacgtgtcgg	4	6	21	10	8	0	0	0	0	0	0	2	2	0	1	0	5	3	2	0	5	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:140182290C>T	ENST00000522353.2	+	1	1508	c.1508C>T	c.(1507-1509)gCg>gTg	p.A503V	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.A503V|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGGAGCGCGCGCTGTCGAGC	0.682													48	115					0	0	1	0	0	T	140182290	C	T	140182290	3	4	242	1	0	0	0	0	1	0	0	0	11572	768	27	1	1510	1	PCDHA3	5	140182290	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	921780	140182290	40732970	321	11935											
PCDHA3	0	broad.mit.edu	37	chr5	140182315	140182315	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgagctacgtgtcggtacaCgcggagagcggcaaggtgta	9	7	16	9	6	0	1	0	0	0	1	2	3	0	1	0	4	4	4	0	4	4	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:140182315C>T	ENST00000522353.2	+	1	1533	c.1533C>T	c.(1531-1533)caC>caT	p.H511H	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000532566.2_Silent_p.H511H|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTCGGTACACGCGGAGAGCG	0.706													62	185					0	0	1	0	0	T	140182315	C	T	140182315	2	4	242	1	0	0	0	0	0	0	0	1	11572	535	19	1		1	PCDHA3	5	140182315	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	25	140182315	40732945	322	11936											
PCDHA9	0	broad.mit.edu	37	chr5	140229397	140229397	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcactgtgggccacggcCagggtgtctgtggaggtggc	4	9	17	11	1	2	0	1	0	1	0	2	1	2	1	3	6	0	0	3	6	0	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:140229397C>A	ENST00000378122.3	+	1	2041	c.1317C>A	c.(1315-1317)gcC>gcA	p.A439A	PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Silent_p.A439A|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCCACGGCCAGGGTGTCTG	0.667													61	146					3.28156e-27	3.4573e-27	1	1	0	A	140229397	C	A	140229397	2	1	242	1	0	0	0	0	0	0	0	1	11578	581	21	4		4	PCDHA9	5	140229397	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	47082	140229397	40685863	323	11937											
PCDHA11	0	broad.mit.edu	37	chr5	140249999	140249999	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgccttctctgtgggccacGgccagggtatccgtggaggt	4	10	15	12	3	1	0	0	0	1	0	4	1	2	1	4	5	0	1	4	5	1	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:140249999G>A	ENST00000398640.2	+	1	1311	c.1311G>A	c.(1309-1311)acG>acA	p.T437T	PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGGGCCACGGCCAGGGTAT	0.637													67	241					0	0	1	0	0	A	140249999	G	A	140249999	2	1	242	1	0	0	0	0	0	0	0	1	11568	1103	39	1		1	PCDHA11	5	140249999	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	20602	140249999	40665261	324	11938											
PCDHB1	0	broad.mit.edu	37	chr5	140431763	140431763	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggtggttctggatgtcaaCgaccacgtgccccagttctc	6	11	12	12	2	3	0	1	0	2	0	4	2	3	1	3	3	2	2	3	3	1	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:140431763C>T	ENST00000306549.3	+	1	785	c.708C>T	c.(706-708)aaC>aaT	p.N236N		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		236	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.N236N(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGATGTCAACGACCACGTGC	0.597													7	19					0	0	1	0	0	T	140431763	C	T	140431763	2	4	242	1	0	0	0	0	0	0	0	1	11581	535	19	1		1	PCDHB1	5	140431763	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	181764	140431763	40483497	325	11939											
PCDHB5	0	broad.mit.edu	37	chr5	140516576	140516576	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccctcaggtcgctggactaCgaggccctgcaggcgttcga	6	7	14	14	4	1	0	1	0	0	0	3	3	1	1	2	4	2	3	2	4	1	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:140516576C>T	ENST00000231134.5	+	1	1777	c.1560C>T	c.(1558-1560)taC>taT	p.Y520Y		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		520	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.Y520Y(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCTGGACTACGAGGCCCTGC	0.701													11	190					0	0	1	0	0	T	140516576	C	T	140516576	2	4	242	1	0	0	0	0	0	0	0	1	11592	547	19	1		1	PCDHB5	5	140516576	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	84813	140516576	40398684	326	11940											
PCDHB12	0	broad.mit.edu	37	chr5	140589863	140589863	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctacgccctgttcgtccgcGagaacaacagccccgccctg	7	6	9	19	5	0	1	0	0	0	1	2	2	1	1	6	0	4	1	6	0	3	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:140589863G>A	ENST00000239450.2	+	1	1573	c.1384G>A	c.(1384-1386)Gag>Aag	p.E462K	PCDHB12_ENST00000541609.1_Missense_Mutation_p.E125K	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		462	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTCGTCCGCGAGAACAACAG	0.617													12	201					0	0	1	0	0	A	140589863	G	A	140589863	3	1	242	1	0	0	0	0	1	0	0	0	11584	1059	37	1	1386	1	PCDHB12	5	140589863	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	73287	140589863	40325397	327	11941											
PCDHB15	0	broad.mit.edu	37	chr5	140625331	140625331	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgggggagctagccgagcGgggagcccgggtagtttctg	6	7	20	8	3	1	0	0	0	1	0	1	3	1	2	2	5	4	3	2	5	2	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:140625331G>A	ENST00000231173.3	+	1	185	c.185G>A	c.(184-186)cGg>cAg	p.R62Q		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		62	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTAGCCGAGCGGGGAGCCCGG	0.552													36	96					0	0	1	0	0	A	140625331	G	A	140625331	3	1	242	1	0	0	0	0	1	0	0	0	11587	1116	39	1	187	1	PCDHB15	5	140625331	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	35468	140625331	40289929	328	11942											
PCDHB15	0	broad.mit.edu	37	chr5	140626377	140626378	+	Frame_Shift_Del	DEL	AG	AG	-																															taacagaaggggcgctggacAgagagaccagagccgagtac																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:140626377_140626378delAG	ENST00000231173.3	+	1	1231_1232	c.1231_1232delAG	c.(1231-1233)afs	p.R411fs		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		411	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCGCTGGACAGAGAGACCAGA	0.475													36	77	---	---	---	---						-	140626378	AG	-	140626377	7	5	242	1	0	1	0	1	0	0	0	0	11587	180	7	0	1233	0	PCDHB15	5	140626377	Frame_Shift_Del	DEL	AG	TCGA-KK-A59V-01A-11D-A29Q-08	1046	140626377	40288883	329	11943											
PCDHGA1	0	broad.mit.edu	37	chr5	140712516	140712516	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgcagacctattcccaCgaggtctccctcactgcgga	7	10	8	16	2	2	1	1	0	1	1	5	3	4	2	4	2	2	1	4	2	1	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:140712516C>T	ENST00000517417.1	+	1	2265	c.2265C>T	c.(2263-2265)caC>caT	p.H755H	PCDHGA1_ENST00000378105.3_Silent_p.H755H	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTATTCCCACGAGGTCTCCC	0.607													64	157					0	0	1	0	0	T	140712516	C	T	140712516	2	4	242	1	0	0	0	0	0	0	0	1	11597	535	19	1		1	PCDHGA1	5	140712516	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	86139	140712516	40202744	330	11944											
PCDHGB3	0	broad.mit.edu	37	chr5	140750489	140750489	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tactacctcagccctgatccGcacttctctttgattcagaa	9	13	5	14	1	3	3	2	2	1	1	5	3	4	3	3	0	3	1	3	0	3	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:140750489G>A	ENST00000576222.1	+	1	659	c.528G>A	c.(526-528)ccG>ccA	p.P176P	PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCTGATCCGCACTTCTCTT	0.542													20	308					0	0	1	0	0	A	140750489	G	A	140750489	2	1	242	1	0	0	0	0	0	0	0	1	11611	1074	38	1		1	PCDHGB3	5	140750489	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	37973	140750489	40164771	331	11945											
PCDHGA6	0	broad.mit.edu	37	chr5	140755586	140755586	+	Frame_Shift_Del	DEL	G	G	-																															agcagagcctagtggtggccGtccaggaccacggccagccc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:140755586delG	ENST00000517434.1	+	1	1936	c.1936delG	c.(1936-1938)tcfs	p.V646fs	PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTGGTGGCCGTCCAGGACCA	0.701													54	108	---	---	---	---						-	140755586	G	-	140755586	7	5	242	1	0	1	0	1	0	0	0	0	11605	1145	40	0	1938	0	PCDHGA6	5	140755586	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	5097	140755586	40159674	332	11946											
PCDHGA10	0	broad.mit.edu	37	chr5	140792918	140792918	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccaaggacttgggtctggCgccccgggagctggcggagc	5	6	17	13	3	1	0	0	0	1	0	2	3	2	3	3	6	2	1	3	6	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:140792918C>T	ENST00000398610.2	+	1	176	c.176C>T	c.(175-177)gCg>gTg	p.A59V	PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB6_ENST00000520790.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1														breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGGGTCTGGCGCCCCGGGAG	0.607													7	182					0	0	1	0	0	T	140792918	C	T	140792918	3	4	242	1	0	0	0	0	1	0	0	0	11598	768	27	1	178	1	PCDHGA10	5	140792918	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	37332	140792918	40122342	333	11947											
PCDHGC5	0	broad.mit.edu	37	chr5	140871074	140871074	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtgagctcggacggcaCgctcaagtacatggaggtga	10	6	16	9	3	1	2	1	2	0	0	2	4	1	4	0	5	2	5	0	5	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:140871074C>T	ENST00000252087.1	+	1	2267	c.2267C>T	c.(2266-2268)aCg>aTg	p.T756M	PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB6_ENST00000520790.1_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN		756					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGGACGGCACGCTCAAGTAC	0.637													5	76					0	0	1	0	0	T	140871074	C	T	140871074	3	4	242	1	0	0	0	0	1	0	0	0	11618	536	19	1	2269	1	PCDHGC5	5	140871074	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	78156	140871074	40044186	334	11948											
HTR4	3360	broad.mit.edu	37	chr5	147889133	147889133	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggatgatgaggaaggcaCgtctaaaagacttattcaag	16	8	12	5	1	2	4	1	2	1	2	2	6	2	6	0	3	0	1	0	3	5	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:147889133C>T	ENST00000360693.3	-	6	1100	c.962G>A	c.(961-963)cGt>cAt	p.R321H	HTR4_ENST00000377888.3_Missense_Mutation_p.R321H|HTR4_ENST00000521530.1_Missense_Mutation_p.R321H|HTR4_ENST00000314512.6_Missense_Mutation_p.R321H|HTR4_ENST00000354217.2_Missense_Mutation_p.R321H|HTR4_ENST00000517929.1_Missense_Mutation_p.R321H|HTR4_ENST00000521735.1_Missense_Mutation_p.R321H|HTR4_ENST00000520514.1_Missense_Mutation_p.R321H|HTR4_ENST00000362016.2_Missense_Mutation_p.R335H	NM_001040173.2	NP_001035263.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	321					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	GAGGAAGGCACGTCTAAAAGA	0.502													20	54					0	0	1	0	0	T	147889133	C	T	147889133	3	4	242	1	0	0	0	0	1	0	0	0	7493	536	19	1	508	1	HTR4	5	147889133	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	7018059	147889133	33026127	335	11949											
IL17B	27190	broad.mit.edu	37	chr5	148756445	148756445	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tactcctccatgcgggcataCggtttcatccgtgacaccag	8	10	9	14	3	1	1	1	1	0	0	4	1	4	1	4	2	3	2	4	2	2	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:148756445C>T	ENST00000261796.3	-	2	215	c.165G>A	c.(163-165)ccG>ccA	p.P55P	IL17B_ENST00000505432.1_5'UTR	NM_014443.2	NP_055258.1	Q9UHF5	IL17B_HUMAN	interleukin 17B	55					cell-cell signaling|immune response|inflammatory response	extracellular space	cytokine activity|signal transducer activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|urinary_tract(1)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGGGCATACGGTTTCATCC	0.622													38	97					0	0	1	0	0	T	148756445	C	T	148756445	2	4	242	1	0	0	0	0	0	0	0	1	7679	523	19	1		1	IL17B	5	148756445	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	867312	148756445	32158815	336	11950											
SAP30L	79685	broad.mit.edu	37	chr5	153830731	153830731	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaagaggaagacaagtgaCgatggcggagattctcccga	14	5	15	7	3	1	4	0	1	1	3	2	9	1	6	1	4	0	0	1	4	3	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:153830731C>T	ENST00000297109.6	+	2	930	c.282C>T	c.(280-282)gaC>gaT	p.D94D	SAP30L_ENST00000440364.2_Intron|SAP30L_ENST00000523198.1_3'UTR|SAP30L_ENST00000426761.2_Intron	NM_024632.5	NP_078908.1	Q9HAJ7	SP30L_HUMAN	SAP30-like	94					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|metal ion binding			breast(1)|lung(3)	4	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			AGACAAGTGACGATGGCGGAG	0.423													12	34					0	0	1	0	0	T	153830731	C	T	153830731	2	4	242	1	0	0	0	0	0	0	0	1	13888	535	19	1		1	SAP30L	5	153830731	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	5074286	153830731	27084529	337	11951											
CYFIP2	26999	broad.mit.edu	37	chr5	156741353	156741353	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacacctgatgctccccaggTggtgacgggctcagggctgg	6	7	16	12	1	1	2	1	2	0	0	2	3	2	2	3	5	1	3	3	5	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:156741353T>C	ENST00000347377.6	+	12	1543	c.1110_splice	c.e12-1	p.V371_splice	CYFIP2_ENST00000521420.1_Splice_Site_p.V345_splice|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000435847.2_Splice_Site_p.V45_splice|CYFIP2_ENST00000377576.3_Splice_Site_p.V371_splice|CYFIP2_ENST00000318218.6_Splice_Site_p.V371_splice|CYFIP2_ENST00000541131.1_Splice_Site_p.V296_splice|CYFIP2_ENST00000522463.1_Splice_Site_p.V175_splice	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	371					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCTCCCCAGGTGGTGACGGGC	0.532													6	71					0	0	1	0	0	C	156741353	T	C	156741353	5	2	242	1	0	0	0	0	0	0	1	0	4161	1710	59	3	1154	3	CYFIP2	5	156741353	Splice_Site	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	2910622	156741353	24173907	338	11952											
ADAM19	8728	broad.mit.edu	37	chr5	156957868	156957868	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagttctgtctccctcacCgtgccgtggtaaaagcagtg	8	10	11	12	2	3	0	1	0	2	0	4	1	3	0	3	1	2	3	3	1	2	2	rs141005435	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:156957868C>T	ENST00000257527.4	-	5	432	c.354G>A	c.(352-354)acG>acA	p.T118T	ADAM19_ENST00000394020.1_Silent_p.T120T|ADAM19_ENST00000430702.2_5'UTR|ADAM19_ENST00000517905.1_Silent_p.T118T	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	118					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCTCCCTCACCGTGCCGTGGT	0.537													12	55					0	0	1	0	0	T	156957868	C	T	156957868	2	4	242	1	0	0	0	0	0	0	0	1	239	639	23	1		1	ADAM19	5	156957868	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	216515	156957868	23957392	339	11953											
RANBP17	64901	broad.mit.edu	37	chr5	170669733	170669733	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatccactcctggaatgtctCactcaggaccatatgagctt	10	12	7	12	0	2	1	2	1	1	0	5	3	4	3	3	2	1	1	3	2	3	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:170669733C>T	ENST00000523189.1	+	24	2849	c.2685C>T	c.(2683-2685)ctC>ctT	p.L895L	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	895					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGGAATGTCTCACTCAGGACC	0.418			T	TRD@	ALL								36	95					0	0	1	0	0	T	170669733	C	T	170669733	2	4	242	1	0	0	0	0	0	0	0	1	13079	813	29	2		2	RANBP17	5	170669733	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	13711865	170669733	10245527	340	11954											
RANBP17	64901	broad.mit.edu	37	chr5	170725811	170725811	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaagagatgtggcagaggcGttgcgcagtgatggcaacac	12	6	16	7	2	0	4	0	1	0	3	0	5	0	4	0	3	2	4	0	3	2	1	rs148315082		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:170725811G>A	ENST00000523189.1	+	28	3380	c.3216G>A	c.(3214-3216)gcG>gcA	p.A1072A	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	1072					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGGCAGAGGCGTTGCGCAGTG	0.498			T	TRD@	ALL								9	33					0	0	1	0	0	A	170725811	G	A	170725811	2	1	242	1	0	0	0	0	0	0	0	1	13079	1132	40	1		1	RANBP17	5	170725811	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	56078	170725811	10189449	341	11955											
CDHR2	54825	broad.mit.edu	37	chr5	176011599	176011599	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggattacgagacacagcccGtcttcaacttgacagtgagt	11	10	10	10	2	2	3	1	2	1	1	2	5	2	4	1	1	3	0	1	1	2	3	rs114267729	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:176011599G>A	ENST00000510636.1	+	19	2591	c.2317G>A	c.(2317-2319)Gtc>Atc	p.V773I	CDHR2_ENST00000506348.1_Missense_Mutation_p.V773I|CDHR2_ENST00000261944.5_Missense_Mutation_p.V773I	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	773	Cadherin 7.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GACACAGCCCGTCTTCAACTT	0.597													44	95					0	0	1	0	0	A	176011599	G	A	176011599	3	1	242	1	0	0	0	0	1	0	0	0	3141	1145	40	1	2387	1	CDHR2	5	176011599	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	5285788	176011599	4903661	342	11956											
NSD1	64324	broad.mit.edu	37	chr5	176638166	176638166	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatatgcatgatagtaagacGaaggagcagcggttgatgac	14	8	14	5	2	0	4	0	3	0	1	0	7	0	5	0	2	3	4	0	2	4	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:176638166G>A	ENST00000439151.2	+	5	2811	c.2766G>A	c.(2764-2766)acG>acA	p.T922T	NSD1_ENST00000347982.4_Silent_p.T653T|NSD1_ENST00000361032.4_Silent_p.T819T|NSD1_ENST00000354179.4_Silent_p.T653T	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	922					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		ATAGTAAGACGAAGGAGCAGC	0.423			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			10	59					0	0	1	0	0	A	176638166	G	A	176638166	2	1	242	1	0	0	0	0	0	0	0	1	10717	1045	37	1		1	NSD1	5	176638166	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	626567	176638166	4277094	343	11957											
ZNF454	285676	broad.mit.edu	37	chr5	178392010	178392010	+	Frame_Shift_Del	DEL	A	A	-																															acatcagaaaattcataatgAaaaaaatgcaaatcagaaaa																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr5:178392010delA	ENST00000320129.3	+	5	908	c.605delA	c.(604-606)gafs	p.E202fs	ZNF454_ENST00000519564.1_Frame_Shift_Del_p.E202fs	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	202					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		ATTCATAATGAAAAAAATGCA	0.348													7	48	---	---	---	---						-	178392010	A	-	178392010	7	5	242	1	0	1	0	1	0	0	0	0	17980	246	9	0	619	0	ZNF454	5	178392010	Frame_Shift_Del	DEL	A	TCGA-KK-A59V-01A-11D-A29Q-08	1753844	178392010	2523250	344	11958											
GMDS	2762	broad.mit.edu	37	chr6	2124953	2124953	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccagcaggaactcagccaGgtaggaaccatcctggggag	11	5	13	12	0	1	0	1	0	0	0	3	3	3	3	4	5	4	2	4	5	3	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:2124953G>C	ENST00000380815.4	-	2	384	c.115C>G	c.(115-117)Ctg>Gtg	p.L39V	GMDS_ENST00000530927.1_Missense_Mutation_p.L9V	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	39					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		AACTCAGCCAGGTAGGAACCA	0.502													9	14					0	0	1	0	0	C	2124953	G	C	2124953	3	2	242	1	0	0	0	0	1	0	0	0	6528	991	35	4	1043	4	GMDS	6	2124953	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08		2124953	168990114	345	11959											
MYLK4	340156	broad.mit.edu	37	chr6	2685806	2685806	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtgaacctggccgaaacGccctctgccaaaaagaggaa	13	6	10	12	2	1	2	0	1	1	1	1	4	1	3	4	2	3	0	4	2	5	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:2685806G>A	ENST00000274643.7	-	5	688	c.346C>T	c.(346-348)Cgt>Tgt	p.R116C	MYLK4_ENST00000268446.5_Missense_Mutation_p.R116C	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	116	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				TGGCCGAAACGCCCTCTGCCA	0.577													31	72					0	0	1	0	0	A	2685806	G	A	2685806	3	1	242	1	0	0	0	0	1	0	0	0	10107	1087	38	1	852	1	MYLK4	6	2685806	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	560853	2685806	168429261	346	11960											
NEDD9	4739	broad.mit.edu	37	chr6	11185821	11185821	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acgccactgtttgtggtgggTaggctctgagagggcttcca	6	11	15	9	1	1	1	0	1	1	1	2	2	2	1	2	4	0	4	2	4	1	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:11185821T>C	ENST00000379446.5	-	7	2245	c.2079A>G	c.(2077-2079)ctA>ctG	p.L693L	RP3-510L9.1_ENST00000500636.2_RNA|NEDD9_ENST00000504387.1_Silent_p.L693L	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	693					actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			TTGTGGTGGGTAGGCTCTGAG	0.507													4	77					0	0	1	0	0	C	11185821	T	C	11185821	2	2	242	1	0	0	0	0	0	0	0	1	10360	1625	57	3		3	NEDD9	6	11185821	Silent	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	8500015	11185821	159929246	347	11961											
MYLIP	29116	broad.mit.edu	37	chr6	16143929	16143929	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttctcttcctgtctcttaGgatagcttatcctgtggtgc	4	19	8	10	0	2	0	0	0	2	0	6	1	4	1	2	2	2	1	2	2	3	6			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:16143929G>T	ENST00000349606.4	+	4	623		c.e4-1		MYLIP_ENST00000356840.3_Splice_Site			Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein						cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			CTGTCTCTTAGGATAGCTTAT	0.453													7	90					8.12818e-05	8.30472e-05	1	1	0	T	16143929	G	T	16143929	5	4	242	1	0	0	0	0	0	0	1	0	10103	1014	35	4	680	4	MYLIP	6	16143929	Splice_Site	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	4958108	16143929	154971138	348	11962											
CAP2	10486	broad.mit.edu	37	chr6	17507412	17507412	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcttacagaatgacgtggccGcacttctgaaacccatatcg	11	9	9	12	3	1	3	0	2	1	1	2	3	1	3	2	1	2	2	2	1	4	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:17507412G>A	ENST00000229922.2	+	5	845	c.313G>A	c.(313-315)Gca>Aca	p.A105T	CAP2_ENST00000465994.1_Missense_Mutation_p.A105T|CAP2_ENST00000378990.2_Missense_Mutation_p.A79T|CAP2_ENST00000493172.1_Intron|CAP2_ENST00000489374.1_Intron	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	105					activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding	p.A105T(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			TGACGTGGCCGCACTTCTGAA	0.473													19	54					0	0	1	0	0	A	17507412	G	A	17507412	3	1	242	1	0	0	0	0	1	0	0	0	2638	1087	38	1	327	1	CAP2	6	17507412	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1363483	17507412	153607655	349	11963											
CAP2	10486	broad.mit.edu	37	chr6	17507500	17507500	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taacatgtttaatcatctttCggccgtcagcgaaagcatcc	11	12	7	11	3	3	0	2	0	1	0	5	1	4	0	2	1	3	2	2	1	3	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:17507500C>T	ENST00000229922.2	+	5	933	c.401C>T	c.(400-402)tCg>tTg	p.S134L	CAP2_ENST00000465994.1_Missense_Mutation_p.S134L|CAP2_ENST00000378990.2_Missense_Mutation_p.S108L|CAP2_ENST00000493172.1_Intron|CAP2_ENST00000489374.1_Intron	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	134					activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			AATCATCTTTCGGCCGTCAGC	0.478													15	65					0	0	1	0	0	T	17507500	C	T	17507500	3	4	242	1	0	0	0	0	1	0	0	0	2638	893	31	1	415	1	CAP2	6	17507500	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	88	17507500	153607567	350	11964											
GPLD1	2822	broad.mit.edu	37	chr6	24473884	24473884	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcctctgaataggagccGtgaaaatcaatctaagaaag	16	8	10	7	1	3	4	1	3	2	1	3	5	3	5	2	1	2	0	2	1	7	2	rs149870664		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:24473884G>A	ENST00000230036.1	-	6	563	c.453C>T	c.(451-453)caC>caT	p.H151H	GPLD1_ENST00000474784.1_5'UTR	NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	151						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						AATAGGAGCCGTGAAAATCAA	0.388													6	27					0	0	1	0	0	A	24473884	G	A	24473884	2	1	242	1	0	0	0	0	0	0	0	1	6654	1136	40	1		1	GPLD1	6	24473884	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	6966384	24473884	146641183	351	11965											
ZNF184	7738	broad.mit.edu	37	chr6	27420591	27420591	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcacattcattacatttgtaGggtttttctccagtatgtgt	8	19	7	7	0	3	0	2	0	1	0	4	0	3	0	1	1	1	3	1	1	3	7			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:27420591G>T	ENST00000211936.6	-	6	1031	c.747C>A	c.(745-747)ccC>ccA	p.P249P	ZNF184_ENST00000377419.1_Silent_p.P249P	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P249P(1)		breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TACATTTGTAGGGTTTTTCTC	0.348													47	117					1.61004e-24	1.69461e-24	1	1	0	T	27420591	G	T	27420591	2	4	242	1	0	0	0	0	0	0	0	1	17809	987	35	4		4	ZNF184	6	27420591	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	2946707	27420591	143694476	352	11966											
SCAND3	114821	broad.mit.edu	37	chr6	28554157	28554157	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cactctcaggattatgctccCgcacccaagactggagctcc	9	8	8	16	1	1	1	1	0	1	1	4	3	3	3	3	2	2	3	3	2	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:28554157C>T	ENST00000452236.2	-	1	955	c.338G>A	c.(337-339)cGg>cAg	p.R113Q	SCAND3_ENST00000530247.1_Intron	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	113	SCAN box.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ATTATGCTCCCGCACCCAAGA	0.527													7	230					0	0	1	0	0	T	28554157	C	T	28554157	3	4	242	1	0	0	0	0	1	0	0	0	13929	652	23	1	3655	1	SCAND3	6	28554157	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1133566	28554157	142560910	353	11967											
OR12D2	26529	broad.mit.edu	37	chr6	29364665	29364665	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgtatttcttcctgggaaaCctgtcctacctggatatctg	8	15	8	10	0	2	0	0	0	2	0	4	2	4	2	4	2	2	1	4	2	4	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:29364665C>A	ENST00000383555.2	+	1	250	c.189C>A	c.(187-189)aaC>aaA	p.N63K	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						TCCTGGGAAACCTGTCCTACC	0.438													26	66					1.85244e-09	1.91803e-09	1	1	0	A	29364665	C	A	29364665	3	1	242	1	0	0	0	0	1	0	0	0	10979	506	18	4	191	4	OR12D2	6	29364665	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	810508	29364665	141750402	354	11968											
MRPS18B	28973	broad.mit.edu	37	chr6	30593450	30593450	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaactgtctcgccttcgccGgctttaccagggtcatctcc	6	11	9	15	3	3	1	1	0	2	1	6	1	3	1	4	2	2	1	4	2	2	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:30593450G>A	ENST00000259873.4	+	7	810	c.653G>A	c.(652-654)cGg>cAg	p.R218Q	MRPS18B_ENST00000472229.1_3'UTR|MRPS18B_ENST00000506373.2_3'UTR	NM_014046.3	NP_054765.1	Q9Y676	RT18B_HUMAN	mitochondrial ribosomal protein S18B	218					translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(2)	13						CGCCTTCGCCGGCTTTACCAG	0.612													6	178					0	0	1	0	0	A	30593450	G	A	30593450	3	1	242	1	0	0	0	0	1	0	0	0	9878	1116	39	1	679	1	MRPS18B	6	30593450	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1228785	30593450	140521617	355	11969											
MDC1	9656	broad.mit.edu	37	chr6	30670918	30670918	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacagaatggggattcccCgccccagggcacacaggaac	11	3	14	13	1	0	1	0	0	0	1	1	4	1	4	4	5	1	1	4	5	2	1	rs148600920	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:30670918C>T	ENST00000376406.3	-	12	6475	c.5828G>A	c.(5827-5829)cGg>cAg	p.R1943Q	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.R1679Q	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1943	BRCT 1.|Required for nuclear localization (NLS2).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						GGGGATTCCCCGCCCCAGGGC	0.597								Other conserved DNA damage response genes					5	61					0	0	1	0	0	T	30670918	C	T	30670918	3	4	242	1	0	0	0	0	1	0	0	0	9453	652	23	1	457	1	MDC1	6	30670918	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	77468	30670918	140444149	356	11970											
MDC1	9656	broad.mit.edu	37	chr6	30673764	30673764	+	Frame_Shift_Del	DEL	G	G	-																															aggtaaaaggggagaaagaaGgggcggaggtgcaagatgtt																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:30673764delG	ENST00000376406.3	-	10	3843	c.3196delC	c.(3196-3198)ttfs	p.L1067fs	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Frame_Shift_Del_p.L803fs	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1067	Pro-rich.			Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						GGAGAAAGAAGGGGCGGAGGT	0.547								Other conserved DNA damage response genes					45	162	---	---	---	---						-	30673764	G	-	30673764	7	5	242	1	0	1	0	1	0	0	0	0	9453	1000	35	0	3097	0	MDC1	6	30673764	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	2846	30673764	140441303	357	11971											
ZBTB12	221527	broad.mit.edu	37	chr6	31867788	31867788	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgttgctccttgaggtgcCgcctaatggcaggcttgtgg	4	12	15	10	2	0	1	0	1	0	0	1	1	1	1	3	4	2	4	3	4	1	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:31867788C>T	ENST00000375527.2	-	2	1470	c.1295G>A	c.(1294-1296)cGg>cAg	p.R432Q	C2_ENST00000469372.1_Intron	NM_181842.2	NP_862825.1	Q9Y330	ZBT12_HUMAN	zinc finger and BTB domain containing 12	432					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1)	10						CTTGAGGTGCCGCCTAATGGC	0.647													17	30					0	0	1	0	0	T	31867788	C	T	31867788	3	4	242	1	0	0	0	0	1	0	0	0	17584	652	23	1	88	1	ZBTB12	6	31867788	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1194024	31867788	139247279	358	11972											
CFB	629	broad.mit.edu	37	chr6	31896622	31896622	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgaggatggcttcatattgCggggctcgcctgtgcgtcag	5	11	16	9	3	2	1	2	1	0	0	3	2	2	2	1	4	2	2	1	4	1	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:31896622C>T	ENST00000477310.1	+	3	399	c.370C>T	c.(370-372)Cgg>Tgg	p.R124W	C2_ENST00000442278.2_Intron|C2_ENST00000418949.2_Missense_Mutation_p.R124W|CFB_ENST00000456570.1_Intron|CFB_ENST00000556679.1_Intron|C2_ENST00000469372.1_Intron|C2_ENST00000299367.5_Missense_Mutation_p.R124W|C2_ENST00000452323.2_Intron			P00751	CFAB_HUMAN	complement factor B	138	Sushi 2.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						CTTCATATTGCGGGGCTCGCC	0.567													27	71					0	0	1	0	0	T	31896622	C	T	31896622	3	4	242	1	0	0	0	0	1	0	0	0	3300	759	27	1		1	CFB	6	31896622	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	28834	31896622	139218445	359	11973											
CFB	629	broad.mit.edu	37	chr6	31915745	31915745	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaacagaagcggaagatcGtcctggacccttcaggctcc	12	6	10	13	2	1	2	1	0	0	2	4	4	3	4	3	3	3	1	3	3	4	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:31915745G>A	ENST00000456570.1	+	18	2345	c.2290G>A	c.(2290-2292)Gtc>Atc	p.V764I	CFB_ENST00000556679.1_Missense_Mutation_p.V764I|CFB_ENST00000425368.2_Missense_Mutation_p.V262I|CFB_ENST00000497841.1_3'UTR|CFB_ENST00000477310.1_Missense_Mutation_p.V613I			P00751	CFAB_HUMAN	complement factor B	262				L -> H (in Ref. 13; AAA36220).	complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						GCGGAAGATCGTCCTGGACCC	0.542													30	71					0	0	1	0	0	A	31915745	G	A	31915745	3	1	242	1	0	0	0	0	1	0	0	0	3300	1145	40	1	806	1	CFB	6	31915745	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	19123	31915745	139199322	360	11974											
PRRT1	80863	broad.mit.edu	37	chr6	32118447	32118447	+	Frame_Shift_Del	DEL	G	G	-																															agggccgggaggggcgtggtGggggggcctcggcagcgtgg																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:32118447delG	ENST00000211413.5	-	2	380	c.256delC	c.(256-258)acfs	p.H87fs	PRRT1_ENST00000375152.2_Intron|PRRT1_ENST00000375150.2_Intron	NM_030651.3	NP_085154.3	Q99946	PRRT1_HUMAN	proline-rich transmembrane protein 1	87					response to biotic stimulus	integral to membrane				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						GGGGCGTGGTGGGGGGGCCTC	0.756													3	4	---	---	---	---						-	32118447	G	-	32118447	7	5	242	1	0	1	0	1	0	0	0	0	12659	1348	47	0	676	0	PRRT1	6	32118447	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	202702	32118447	138996620	361	11975											
TAP2	6891	broad.mit.edu	37	chr6	32805336	32805336	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaaaggagaagaggcacaTgaagaagatggcactggcaa	17	3	14	7	0	0	5	0	1	0	4	0	6	0	5	1	4	0	3	1	4	5	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:32805336T>C	ENST00000374897.2	-	3	717	c.586A>G	c.(586-588)Atg>Gtg	p.M196V	TAP2_ENST00000452392.2_Missense_Mutation_p.M196V|TAP2_ENST00000374899.4_Missense_Mutation_p.M196V	NM_000544.3	NP_000535.3	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	196	ABC transmembrane type-1.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding										AAGAGGCACATGAAGAAGATG	0.493													15	21					0	0	1	0	0	C	32805336	T	C	32805336	3	2	242	1	0	0	0	0	1	0	0	0	15608	1464	51	3	1599	3	TAP2	6	32805336	Missense_Mutation	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	686889	32805336	138309731	362	11976											
COL11A2	1302	broad.mit.edu	37	chr6	33137176	33137176	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcacagggttccctttggggCcatcatcgcctgtggggcct	4	11	13	13	1	2	0	2	0	0	0	4	0	3	0	4	5	0	1	4	5	0	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:33137176C>T	ENST00000341947.2	-	51	4009	c.3782G>A	c.(3781-3783)gGc>gAc	p.G1261D	COL11A2_ENST00000357486.1_Missense_Mutation_p.G1240D|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000361917.1_Missense_Mutation_p.G1154D|COL11A2_ENST00000374714.1_Missense_Mutation_p.G1235D|COL11A2_ENST00000395197.1_Missense_Mutation_p.G1201D|COL11A2_ENST00000374708.4_Missense_Mutation_p.G1175D|COL11A2_ENST00000374712.1_Missense_Mutation_p.G1180D|COL11A2_ENST00000374713.1_Missense_Mutation_p.G1214D	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1261	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CCCTTTGGGGCCATCATCGCC	0.627													9	44					0	0	1	0	0	T	33137176	C	T	33137176	3	4	242	1	0	0	0	0	1	0	0	0	3691	739	26	2	1492	2	COL11A2	6	33137176	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	331840	33137176	137977891	363	11977											
COL11A2	1302	broad.mit.edu	37	chr6	33157148	33157148	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgggcaggtcgtgccactcGgtaggccacatcagctggac	7	7	14	13	2	1	0	1	0	0	0	3	1	1	1	2	5	2	3	2	5	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:33157148G>A	ENST00000341947.2	-	2	408	c.181C>T	c.(181-183)Cga>Tga	p.R61*	COL11A2_ENST00000395194.1_Nonsense_Mutation_p.R61*|COL11A2_ENST00000357486.1_Nonsense_Mutation_p.R61*|COL11A2_ENST00000361917.1_Nonsense_Mutation_p.R61*|COL11A2_ENST00000374714.1_Nonsense_Mutation_p.R61*|COL11A2_ENST00000395197.1_Nonsense_Mutation_p.R61*|COL11A2_ENST00000374708.4_Nonsense_Mutation_p.R61*|COL11A2_ENST00000374712.1_Nonsense_Mutation_p.R61*|COL11A2_ENST00000374713.1_Nonsense_Mutation_p.R61*	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	61	TSP N-terminal.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CGTGCCACTCGGTAGGCCACA	0.642													5	77					0	0	1	0	0	A	33157148	G	A	33157148	4	1	242	1	0	0	0	0	0	1	0	0	3691	1124	39	1	5364	1	COL11A2	6	33157148	Nonsense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	19972	33157148	137957919	364	11978											
RING1	6015	broad.mit.edu	37	chr6	33177832	33177832	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagaccgagtgcttatccGcctgagccgcctgcacaacc	9	7	9	16	3	1	2	1	1	0	1	2	3	2	2	6	0	4	2	6	0	3	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:33177832G>A	ENST00000374656.4	+	4	588	c.380G>A	c.(379-381)cGc>cAc	p.R127H	RING1_ENST00000478431.1_3'UTR	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	127	Necessary for transcriptional repression (By similarity).				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|PcG protein complex	protein binding|zinc ion binding			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						GTGCTTATCCGCCTGAGCCGC	0.577													16	65					0	0	1	0	0	A	33177832	G	A	33177832	3	1	242	1	0	0	0	0	1	0	0	0	13426	1087	38	1	390	1	RING1	6	33177832	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	20684	33177832	137937235	365	11979											
UHRF1BP1	54887	broad.mit.edu	37	chr6	34824040	34824040	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagctgcaaacattgggtacGccactgtgaggccatggaga	11	8	13	9	1	0	2	0	1	0	1	0	3	0	2	2	3	4	3	2	3	3	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:34824040G>A	ENST00000192788.5	+	10	1316	c.1145G>A	c.(1144-1146)cGc>cAc	p.R382H	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.R382H	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	382										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						CATTGGGTACGCCACTGTGAG	0.468													49	160					0	0	1	0	0	A	34824040	G	A	34824040	3	1	242	1	0	0	0	0	1	0	0	0	17028	1087	38	1	1183	1	UHRF1BP1	6	34824040	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1646208	34824040	136291027	366	11980											
SCUBE3	222663	broad.mit.edu	37	chr6	35200688	35200688	+	Frame_Shift_Del	DEL	G	G	-																															atttgccgggagacacccaaGgggggtattgcctgtgaatg																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:35200688delG	ENST00000274938.7	+	5	531	c.531delG	c.(529-531)aafs	p.K177fs	SCUBE3_ENST00000394681.1_Frame_Shift_Del_p.K177fs	NM_152753.2	NP_689966.2	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	177	EGF-like 4.				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						AGACACCCAAGGGGGGTATTG	0.517													36	134	---	---	---	---						-	35200688	G	-	35200688	7	5	242	1	0	1	0	1	0	0	0	0	14000	991	35	0	549	0	SCUBE3	6	35200688	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	376648	35200688	135914379	367	11981											
CDKN1A	1026	broad.mit.edu	37	chr6	36651973	36651973	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacagcgagcagctgagccGcgactgtgatgcgctaatgg	9	6	16	10	4	0	2	0	2	0	0	0	5	0	3	1	2	5	3	1	2	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:36651973G>A	ENST00000405375.1	+	2	330	c.95G>A	c.(94-96)cGc>cAc	p.R32H	CDKN1A_ENST00000448526.2_Missense_Mutation_p.R66H|CDKN1A_ENST00000244741.5_Missense_Mutation_p.R32H|CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000373711.2_Missense_Mutation_p.R32H	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	32					cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						CAGCTGAGCCGCGACTGTGAT	0.652													17	41					0	0	1	0	0	A	36651973	G	A	36651973	3	1	242	1	0	0	0	0	1	0	0	0	3180	1087	38	1	97	1	CDKN1A	6	36651973	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1451285	36651973	134463094	368	11982											
GLO1	2739	broad.mit.edu	37	chr6	38652182	38652182	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtgtagcttttctggagagCgcccaggctattttttcatc	7	15	10	9	1	2	1	1	0	1	1	3	2	2	1	1	2	2	3	1	2	2	7			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:38652182C>T	ENST00000373365.4	-	3	362	c.276G>A	c.(274-276)gcG>gcA	p.A92A		NM_006708.2	NP_006699.2	Q04760	LGUL_HUMAN	glyoxalase I	92					anti-apoptosis|carbohydrate metabolic process	cytoplasm	lactoylglutathione lyase activity|metal ion binding			lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	6					Glutathione(DB00143)	TTCTGGAGAGCGCCCAGGCTA	0.303													7	18					0	0	1	0	0	T	38652182	C	T	38652182	2	4	242	1	0	0	0	0	0	0	0	1	6491	755	27	1		1	GLO1	6	38652182	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	2000209	38652182	132462885	369	11983											
NFYA	4800	broad.mit.edu	37	chr6	41062195	41062195	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagcgtggtgaaggtggaCgatttttctctccaaaggaa	11	10	14	6	2	1	1	0	1	1	0	3	5	2	4	1	5	1	0	1	5	4	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:41062195C>T	ENST00000341376.6	+	9	1150	c.949C>T	c.(949-951)Cga>Tga	p.R317*	NFYA_ENST00000353205.5_Nonsense_Mutation_p.R288*|OARD1_ENST00000480585.1_Intron	NM_002505.4	NP_002496.1	P23511	NFYA_HUMAN	nuclear transcription factor Y, alpha	317					transcription from RNA polymerase II promoter	CCAAT-binding factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	9	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGAAGGTGGACGATTTTTCTC	0.388													3	49					0	0	1	0	0	T	41062195	C	T	41062195	4	4	242	1	0	0	0	0	0	1	0	0	10436	528	19	1	979	1	NFYA	6	41062195	Nonsense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	2410013	41062195	130052872	370	11984											
BYSL	705	broad.mit.edu	37	chr6	41900303	41900303	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtccagcgctacaaggcCgacttggccacagaccagaa	11	6	11	13	2	0	2	0	0	0	2	1	3	1	2	4	3	2	1	4	3	3	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:41900303C>T	ENST00000230340.4	+	7	1548	c.1173C>T	c.(1171-1173)gcC>gcT	p.A391A		NM_004053.3	NP_004044.3	Q13895	BYST_HUMAN	bystin-like	391					cell adhesion|female pregnancy|ribosome biogenesis	cytoplasm|nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1)	8	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GCTACAAGGCCGACTTGGCCA	0.592													44	106					0	0	1	0	0	T	41900303	C	T	41900303	2	4	242	1	0	0	0	0	0	0	0	1	1579	639	23	1		1	BYSL	6	41900303	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	838108	41900303	129214764	371	11985											
MRPL2	51069	broad.mit.edu	37	chr6	43024050	43024050	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acatcccaaacttgcctacaGggatcatagcggacttggat	12	9	9	11	1	1	0	1	0	0	0	2	3	2	3	2	3	4	0	2	3	3	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:43024050G>T	ENST00000388752.3	-	3	823	c.399C>A	c.(397-399)ccC>ccA	p.P133P	MRPL2_ENST00000489623.1_Intron|MRPL2_ENST00000230413.5_Silent_p.P133P	NM_015950.3	NP_057034.2	Q5T653	RM02_HUMAN	mitochondrial ribosomal protein L2	133					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(2)	9		Ovarian(999;0.0014)	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)	BRCA - Breast invasive adenocarcinoma(397;0.0026)		CTTGCCTACAGGGATCATAGC	0.493													20	62					0.00121646	0.00123356	1	1	0	T	43024050	G	T	43024050	2	4	242	1	0	0	0	0	0	0	0	1	9834	987	35	4		4	MRPL2	6	43024050	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1123747	43024050	128091017	372	11986											
PTK7	0	broad.mit.edu	37	chr6	43099822	43099822	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgacccaggtccggccacGcaatgcagggatctaccgct	8	6	12	15	3	1	1	0	1	1	0	2	2	2	2	4	3	2	4	4	3	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:43099822G>A	ENST00000230419.4	+	6	1102	c.881G>A	c.(880-882)cGc>cAc	p.R294H	PTK7_ENST00000481273.1_Missense_Mutation_p.R302H|PTK7_ENST00000471863.1_Missense_Mutation_p.R294H|PTK7_ENST00000345201.2_Missense_Mutation_p.R294H|PTK7_ENST00000349241.2_Missense_Mutation_p.R294H|PTK7_ENST00000352931.2_Missense_Mutation_p.R294H	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	294	Ig-like C2-type 3.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GTCCGGCCACGCAATGCAGGG	0.622													14	48					0	0	1	0	0	A	43099822	G	A	43099822	3	1	242	1	0	0	0	0	1	0	0	0	12815	1087	38	1	903	1	PTK7	6	43099822	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	75772	43099822	128015245	373	11987											
CAPN11	11131	broad.mit.edu	37	chr6	44141052	44141052	+	Frame_Shift_Del	DEL	C	C	-																															agagcttccaactccagaggCcccctcagaacctgctcagg																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:44141052delC	ENST00000398776.1	+	7	798	c.760delC	c.(760-762)ccfs	p.P255fs	CAPN11_ENST00000542245.1_Frame_Shift_Del_p.P255fs	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	255	Calpain catalytic.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	p.P254S(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ACTCCAGAGGCCCCCTCAGAA	0.597											OREG0017466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	78	---	---	---	---						-	44141052	C	-	44141052	7	5	242	1	0	1	0	1	0	0	0	0	2642	739	26	0	786	0	CAPN11	6	44141052	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	1041230	44141052	126974015	374	11988											
SLC29A1	2030	broad.mit.edu	37	chr6	44199798	44199798	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattgggatgtttccagccGtgactgttgaggtcaagtcc	7	12	12	10	1	1	2	1	2	0	0	3	3	3	3	4	2	1	2	4	2	1	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:44199798G>A	ENST00000393841.1	+	11	1419	c.928G>A	c.(928-930)Gtg>Atg	p.V310M	SLC29A1_ENST00000427851.2_Missense_Mutation_p.V310M|SLC29A1_ENST00000393844.1_Missense_Mutation_p.V310M|SLC29A1_ENST00000371740.5_Missense_Mutation_p.V310M|SLC29A1_ENST00000371708.1_Missense_Mutation_p.V310M|SLC29A1_ENST00000472176.1_3'UTR|SLC29A1_ENST00000371713.1_Missense_Mutation_p.V310M|SLC29A1_ENST00000371724.1_Missense_Mutation_p.V310M|SLC29A1_ENST00000371731.1_Missense_Mutation_p.V310M|SLC29A1_ENST00000313248.7_Missense_Mutation_p.V389M|SLC29A1_ENST00000371755.3_Missense_Mutation_p.V310M	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	310					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Troglitazone(DB00197)	GTTTCCAGCCGTGACTGTTGA	0.527													15	31					0	0	1	0	0	A	44199798	G	A	44199798	3	1	242	1	0	0	0	0	1	0	0	0	14589	1145	40	1	962	1	SLC29A1	6	44199798	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	58746	44199798	126915269	375	11989											
GPR111	222611	broad.mit.edu	37	chr6	47649198	47649198	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accaccatatctggagataaCattggaaaaaatttcacttt	16	12	5	8	0	2	1	1	0	1	1	2	3	2	2	2	2	1	0	2	2	5	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:47649198C>T	ENST00000398742.2	+	5	748	c.699C>T	c.(697-699)aaC>aaT	p.N233N	GPR111_ENST00000507065.1_Silent_p.N233N|GPR111_ENST00000296862.1_Silent_p.N301N			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	301					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CTGGAGATAACATTGGAAAAA	0.388													33	82					0	0	1	0	0	T	47649198	C	T	47649198	2	4	242	1	0	0	0	0	0	0	0	1	6668	477	17	2		2	GPR111	6	47649198	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	3449400	47649198	123465869	376	11990											
MUT	4594	broad.mit.edu	37	chr6	49425735	49425735	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcatagccacgatgtgtcGccagatcaaaggcaactgat	14	8	9	10	2	2	2	2	1	0	1	3	3	2	2	2	1	2	1	2	1	4	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:49425735G>A	ENST00000274813.3	-	3	549	c.422C>T	c.(421-423)gCg>gTg	p.A141V		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	141					fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACGATGTGTCGCCAGATCAAA	0.388													22	39					0	0	1	0	0	A	49425735	G	A	49425735	3	1	242	1	0	0	0	0	1	0	0	0	10039	1087	38	1	1874	1	MUT	6	49425735	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1776537	49425735	121689332	377	11991											
BMP5	653	broad.mit.edu	37	chr6	55638931	55638931	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtttgttggctgctctcaCggatcgaagaagtacctcac	8	12	10	11	3	2	1	2	0	1	1	5	3	2	2	1	2	2	5	1	2	3	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:55638931C>T	ENST00000370830.3	-	4	1641	c.943G>A	c.(943-945)Gtg>Atg	p.V315M	BMP5_ENST00000446683.2_Missense_Mutation_p.V315M	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	315					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			GCTGCTCTCACGGATCGAAGA	0.468													32	108					0	0	1	0	0	T	55638931	C	T	55638931	3	4	242	1	0	0	0	0	1	0	0	0	1462	536	19	1	437	1	BMP5	6	55638931	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	6213196	55638931	115476136	378	11992											
COL9A1	1297	broad.mit.edu	37	chr6	70991121	70991121	+	Frame_Shift_Del	DEL	G	G	-																															catcgatgcctggaactccaGgggggcccggaggcccggga																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:70991121delG	ENST00000357250.6	-	8	1006	c.848delC	c.(847-849)ctfs	p.P283fs	COL9A1_ENST00000370496.3_Frame_Shift_Del_p.P283fs|COL9A1_ENST00000370499.4_Frame_Shift_Del_p.P40fs|COL9A1_ENST00000320755.7_Frame_Shift_Del_p.P40fs	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	283	Triple-helical region (COL3).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TGGAACTCCAGGGGGGCCCGG	0.592													10	50	---	---	---	---						-	70991121	G	-	70991121	7	5	242	1	0	1	0	1	0	0	0	0	3730	1000	35	0	2041	0	COL9A1	6	70991121	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	15352190	70991121	100123946	379	11993											
LCA5	167691	broad.mit.edu	37	chr6	80223398	80223398	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctattgaggctctgggagCgaaatcccactcggactccc	8	9	10	14	2	2	1	0	1	2	0	5	4	4	3	2	3	1	1	2	3	2	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:80223398C>T	ENST00000392959.1	-	4	862	c.251G>A	c.(250-252)cGc>cAc	p.R84H	LCA5_ENST00000369846.4_Missense_Mutation_p.R84H|LCA5_ENST00000467898.2_Missense_Mutation_p.R84H	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	84					protein transport	cilium axoneme|microtubule basal body	protein binding	p.R84H(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		GCTCTGGGAGCGAAATCCCAC	0.438													73	210					0	0	1	0	0	T	80223398	C	T	80223398	3	4	242	1	0	0	0	0	1	0	0	0	8695	768	27	1	1866	1	LCA5	6	80223398	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	9232277	80223398	90891669	380	11994											
TTK	7272	broad.mit.edu	37	chr6	80720539	80720539	+	Frame_Shift_Del	DEL	A	A	-																															ttgctttgttaggtaatgtcAaaaaaagtaaacaacttctt																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:80720539delA	ENST00000509894.1	+	5	1307	c.478delA	c.(478-480)aafs	p.K161fs	TTK_ENST00000369798.2_Frame_Shift_Del_p.K161fs|TTK_ENST00000230510.3_Frame_Shift_Del_p.K161fs			P33981	TTK_HUMAN	TTK protein kinase	161					mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		AGGTAATGTCAAAAAAAGTAA	0.383													11	39	---	---	---	---						-	80720539	A	-	80720539	7	5	242	1	0	1	0	1	0	0	0	0	16782	131	5	0	492	0	TTK	6	80720539	Frame_Shift_Del	DEL	A	TCGA-KK-A59V-01A-11D-A29Q-08	497141	80720539	90394528	381	11995											
DOPEY1	23033	broad.mit.edu	37	chr6	83810593	83810593	+	Frame_Shift_Del	DEL	T	T	-																															taagcgacttgccaaagatcTttttttatataggtaagaat																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:83810593delT	ENST00000349129.2	+	4	568	c.308delT	c.(307-309)ctfs	p.L103fs	DOPEY1_ENST00000369739.3_Frame_Shift_Del_p.L103fs|DOPEY1_ENST00000237163.5_Frame_Shift_Del_p.L103fs|DOPEY1_ENST00000536812.1_Frame_Shift_Del_p.L103fs	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	103					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GCCAAAGATCTTTTTTTATAT	0.284													48	150	---	---	---	---						-	83810593	T	-	83810593	7	5	242	1	0	1	0	1	0	0	0	0	4734	1609	56	0	314	0	DOPEY1	6	83810593	Frame_Shift_Del	DEL	T	TCGA-KK-A59V-01A-11D-A29Q-08	3090054	83810593	87304474	382	11996											
KIAA1009	22832	broad.mit.edu	37	chr6	84884584	84884584	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttgctcaattagggcttgCgcacccctccatttatcctc	7	14	6	14	1	1	0	1	0	0	0	4	0	3	0	4	1	2	3	4	1	3	5	rs143508247		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:84884584C>T	ENST00000403245.3	-	15	2001	c.1887G>A	c.(1885-1887)gcG>gcA	p.A629A	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Silent_p.A553A	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN	KIAA1009	629					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding	p.A629A(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TTAGGGCTTGCGCACCCCTCC	0.373													7	24					0	0	1	0	0	T	84884584	C	T	84884584	2	4	242	1	0	0	0	0	0	0	0	1	8245	755	27	1		1	KIAA1009	6	84884584	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1073991	84884584	86230483	383	11997											
MAP3K7	6885	broad.mit.edu	37	chr6	91261842	91261842	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggatctttagaccaacaacGagtcatcaggctctcaatgg	13	9	9	10	1	4	1	3	0	2	1	5	3	4	2	1	3	2	1	1	3	4	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:91261842G>A	ENST00000369329.3	-	8	954	c.793C>T	c.(793-795)Cgt>Tgt	p.R265C	MAP3K7_ENST00000369327.3_Missense_Mutation_p.R265C|MAP3K7_ENST00000369320.1_5'UTR|MAP3K7_ENST00000369325.3_Missense_Mutation_p.R265C|MAP3K7_ENST00000369332.3_Missense_Mutation_p.R265C	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	265	Protein kinase.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		GACCAACAACGAGTCATCAGG	0.428													19	53					0	0	1	0	0	A	91261842	G	A	91261842	3	1	242	1	0	0	0	0	1	0	0	0	9305	1058	37	1	1067	1	MAP3K7	6	91261842	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	6377258	91261842	79853225	384	11998											
FHL5	9457	broad.mit.edu	37	chr6	97058503	97058503	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctatggcataaagagtgttTtctgtgtagtggctgtagga	9	14	14	4	0	1	1	0	0	1	1	1	2	1	2	0	3	0	6	0	3	5	6			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:97058503T>C	ENST00000326771.2	+	6	940	c.560T>C	c.(559-561)tTt>tCt	p.F187S	FHL5_ENST00000541107.1_Missense_Mutation_p.F187S	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	187	LIM zinc-binding 3.					nucleus	zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		AAAGAGTGTTTTCTGTGTAGT	0.448													60	145					0	0	1	0	0	C	97058503	T	C	97058503	3	2	242	1	0	0	0	0	1	0	0	0	5914	1841	64	3	574	3	FHL5	6	97058503	Missense_Mutation	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	5796661	97058503	74056564	385	11999											
GRIK2	2898	broad.mit.edu	37	chr6	102503424	102503424	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcagtgggagaatttttatAcaaatccaaaaaaaacgctc	17	9	8	7	1	0	1	0	0	0	1	2	2	1	1	1	2	2	2	1	2	8	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:102503424A>G	ENST00000369138.1	+	15	3021	c.2531A>G	c.(2530-2532)tAc>tGc	p.Y844C	GRIK2_ENST00000421544.1_Missense_Mutation_p.Y844C|GRIK2_ENST00000369134.4_Missense_Mutation_p.Y795C|GRIK2_ENST00000318991.6_Missense_Mutation_p.Y844C|GRIK2_ENST00000413795.1_Missense_Mutation_p.Y844C|GRIK2_ENST00000369137.3_Missense_Mutation_p.Y768C	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	844					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	GAATTTTTATACAAATCCAAA	0.373													10	149					0	0	1	0	0	G	102503424	A	G	102503424	3	3	242	1	0	0	0	0	1	0	0	0	6815	391	14	3	2589	3	GRIK2	6	102503424	Missense_Mutation	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	5444921	102503424	68611643	386	12000											
NR2E1	7101	broad.mit.edu	37	chr6	108492739	108492739	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acggggtctacgcctgcgacGgctgctcaggttttttcaaa	7	11	12	11	4	3	0	2	0	1	0	3	1	3	0	1	4	3	3	1	4	2	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:108492739G>A	ENST00000368986.4	+	2	811	c.103G>A	c.(103-105)Ggc>Agc	p.G35S	NR2E1_ENST00000368983.3_Missense_Mutation_p.G72S	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	35					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		CGCCTGCGACGGCTGCTCAGG	0.567													65	172					0	0	1	0	0	A	108492739	G	A	108492739	3	1	242	1	0	0	0	0	1	0	0	0	10673	1116	39	1	109	1	NR2E1	6	108492739	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	5989315	108492739	62622328	387	12001											
LAMA4	3910	broad.mit.edu	37	chr6	112493823	112493823	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgctgtacctcatggtccCgctgcctggctgctgtggcc	2	11	12	16	2	1	0	1	0	0	0	3	0	3	0	5	3	3	5	5	3	1	1	rs146358872	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:112493823C>T	ENST00000230538.7	-	12	1938	c.1541G>A	c.(1540-1542)cGg>cAg	p.R514Q	LAMA4_ENST00000522006.1_Missense_Mutation_p.R507Q|LAMA4_ENST00000389463.4_Missense_Mutation_p.R507Q|LAMA4_ENST00000424408.2_Missense_Mutation_p.R507Q	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	514	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CTCATGGTCCCGCTGCCTGGC	0.478													16	39					0	0	1	0	0	T	112493823	C	T	112493823	3	4	242	1	0	0	0	0	1	0	0	0	8647	652	23	1	4042	1	LAMA4	6	112493823	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	4001084	112493823	58621244	388	12002											
CLVS2	134829	broad.mit.edu	37	chr6	123319048	123319048	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatatggtcatcaccaggccGgacattggctttctgcgcac	8	10	11	12	2	3	0	2	0	1	0	3	2	3	1	2	4	1	2	2	4	1	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:123319048G>A	ENST00000275162.4	+	2	1461	c.126G>A	c.(124-126)ccG>ccA	p.P42P	CLVS2_ENST00000368438.1_Intron	NM_001010852.2	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	42					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						TCACCAGGCCGGACATTGGCT	0.567													30	77					0	0	1	0	0	A	123319048	G	A	123319048	2	1	242	1	0	0	0	0	0	0	0	1	3595	1103	39	1		1	CLVS2	6	123319048	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	10825225	123319048	47796019	389	12003											
HEY2	23493	broad.mit.edu	37	chr6	126080681	126080681	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgggcagcgtcgccccctgCgtgccacctctctccacctc	4	7	9	21	4	1	0	0	0	1	0	5	0	2	0	6	1	3	1	6	1	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:126080681C>T	ENST00000368364.3	+	5	944	c.747C>T	c.(745-747)tgC>tgT	p.C249C	HEY2_ENST00000368365.1_Silent_p.C203C	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	249					negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		TCGCCCCCTGCGTGCCACCTC	0.672													126	341					0	0	1	0	0	T	126080681	C	T	126080681	2	4	242	1	0	0	0	0	0	0	0	1	7120	776	27	1		1	HEY2	6	126080681	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	2761633	126080681	45034386	390	12004											
PTPRK	5796	broad.mit.edu	37	chr6	128388750	128388750	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaaaagccttggtaggtccGattgtcacccacagtgaacg	11	8	10	12	2	1	1	1	1	0	0	2	2	2	1	4	2	2	1	4	2	4	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:128388750G>A	ENST00000368227.3	-	12	2437	c.2071C>T	c.(2071-2073)Cgg>Tgg	p.R691W	RP11-103C16.2_ENST00000417390.1_RNA|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368210.3_Missense_Mutation_p.R691W|PTPRK_ENST00000368226.4_Missense_Mutation_p.R691W|PTPRK_ENST00000368213.5_Missense_Mutation_p.R691W|PTPRK_ENST00000532331.1_Missense_Mutation_p.R691W|PTPRK_ENST00000368215.3_Missense_Mutation_p.R691W|PTPRK_ENST00000368207.3_Missense_Mutation_p.R691W			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	691					cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TGGTAGGTCCGATTGTCACCC	0.542													30	88					0	0	1	0	0	A	128388750	G	A	128388750	3	1	242	1	0	0	0	0	1	0	0	0	12857	1057	37	1	2349	1	PTPRK	6	128388750	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	2308069	128388750	42726317	391	12005											
MAP3K5	4217	broad.mit.edu	37	chr6	136913360	136913360	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caattttgtcttggtcttccGtcaggatcctgtgaagggta	7	15	11	8	1	3	1	1	1	2	0	5	2	5	2	2	3	0	1	2	3	3	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:136913360G>A	ENST00000359015.4	-	23	3536	c.3176C>T	c.(3175-3177)aCg>aTg	p.T1059M	MAP3K5_ENST00000355845.4_Missense_Mutation_p.T306M	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	1059					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TTGGTCTTCCGTCAGGATCCT	0.448													49	110					0	0	1	0	0	A	136913360	G	A	136913360	3	1	242	1	0	0	0	0	1	0	0	0	9303	1145	40	1	980	1	MAP3K5	6	136913360	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	8524610	136913360	34201707	392	12006											
TXLNB	167838	broad.mit.edu	37	chr6	139609729	139609729	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcctcttcagttgtttccTcacagtccccatcctcgttg	5	14	6	16	1	3	0	2	0	1	0	7	0	6	0	5	0	1	3	5	0	0	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:139609729T>G	ENST00000358430.3	-	2	540	c.308A>C	c.(307-309)gAg>gCg	p.E103A		NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	103						cytoplasm				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		AGTTGTTTCCTCACAGTCCCC	0.532													5	116					0	0	1	0	0	G	139609729	T	G	139609729	3	3	242	1	0	0	0	0	1	0	0	0	16850	1551	54	5	1782	5	TXLNB	6	139609729	Missense_Mutation	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	2696369	139609729	31505338	393	12007											
NMBR	4829	broad.mit.edu	37	chr6	142399950	142399950	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgggaactgccagcaacacGgagaccacccagatacccat	13	4	9	15	2	0	2	0	0	0	2	1	4	0	3	4	2	5	1	4	2	3	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:142399950G>A	ENST00000258042.1	-	2	653	c.513C>T	c.(511-513)tcC>tcT	p.S171S		NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	171					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		CCAGCAACACGGAGACCACCC	0.532													29	71					0	0	1	0	0	A	142399950	G	A	142399950	2	1	242	1	0	0	0	0	0	0	0	1	10534	1103	39	1		1	NMBR	6	142399950	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	2790221	142399950	28715117	394	12008											
AKAP12	9590	broad.mit.edu	37	chr6	151671792	151671792	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccctaccgaaggggagggcGtttccacctgggagtcattt	7	9	14	11	2	1	0	1	0	0	0	2	3	2	2	4	4	1	1	4	4	2	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:151671792G>A	ENST00000402676.2	+	4	2506	c.2266G>A	c.(2266-2268)Gtt>Att	p.V756I	AKAP12_ENST00000359755.5_Missense_Mutation_p.V651I|AKAP12_ENST00000354675.6_Missense_Mutation_p.V658I|AKAP12_ENST00000253332.1_Missense_Mutation_p.V756I	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	756	AKAP 2.				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		AGGGGAGGGCGTTTCCACCTG	0.537													58	166					0	0	1	0	0	A	151671792	G	A	151671792	3	1	242	1	0	0	0	0	1	0	0	0	445	1145	40	1	2305	1	AKAP12	6	151671792	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	9271842	151671792	19443275	395	12009											
OPRM1	4988	broad.mit.edu	37	chr6	154412196	154412196	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccagtgctcatcattacCgtgtgctatggactgatgat	9	13	10	9	1	2	2	2	2	0	0	2	3	2	3	2	1	4	2	2	1	2	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:154412196C>T	ENST00000414028.2	+	3	803	c.753C>T	c.(751-753)acC>acT	p.T251T	OPRM1_ENST00000428397.2_Silent_p.T251T|OPRM1_ENST00000435918.2_Silent_p.T251T|OPRM1_ENST00000229768.5_Silent_p.T251T|OPRM1_ENST00000520708.1_Silent_p.T151T|OPRM1_ENST00000330432.7_Silent_p.T251T|OPRM1_ENST00000522555.1_Silent_p.T151T|OPRM1_ENST00000360422.4_Silent_p.T251T|OPRM1_ENST00000452687.2_Silent_p.T251T|OPRM1_ENST00000337049.4_Silent_p.T251T|OPRM1_ENST00000419506.2_Silent_p.T251T|OPRM1_ENST00000434900.2_Silent_p.T344T|OPRM1_ENST00000522236.1_Silent_p.T151T|OPRM1_ENST00000518759.1_Silent_p.T170T|OPRM1_ENST00000524163.1_Silent_p.T251T	NM_001145284.2	NP_001138756.1	P35372	OPRM_HUMAN	opioid receptor, mu 1	251					behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding	p.T251T(2)|p.T344T(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	TCATCATTACCGTGTGCTATG	0.473													23	92					0	0	1	0	0	T	154412196	C	T	154412196	2	4	242	1	0	0	0	0	0	0	0	1	10935	639	23	1		1	OPRM1	6	154412196	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	2740404	154412196	16702871	396	12010											
SOD2	6648	broad.mit.edu	37	chr6	160103610	160103610	+	Frame_Shift_Del	DEL	T	T	-																															ttagataatcaggcctgacaTttttatactgaaggtagtaa																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:160103610delT	ENST00000538183.1	-	5	744	c.584delA	c.(583-585)atfs	p.N195fs	SOD2_ENST00000367054.2_Frame_Shift_Del_p.N156fs|SOD2_ENST00000367055.4_Frame_Shift_Del_p.N195fs|SOD2_ENST00000444946.2_Frame_Shift_Del_p.N135fs|SOD2_ENST00000337404.4_Frame_Shift_Del_p.N156fs|SOD2_ENST00000546087.1_Frame_Shift_Del_p.N149fs	NM_000636.2	NP_000627.2	P04179	SODM_HUMAN	superoxide dismutase 2, mitochondrial	195					age-dependent response to reactive oxygen species|negative regulation of neuron apoptosis|oxygen homeostasis|protein homotetramerization|regulation of transcription from RNA polymerase II promoter|release of cytochrome c from mitochondria|removal of superoxide radicals|vasodilation by acetylcholine involved in regulation of systemic arterial blood pressure		manganese ion binding|superoxide dismutase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(3)|skin(1)	14		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.103)		OV - Ovarian serous cystadenocarcinoma(65;1.4e-18)|BRCA - Breast invasive adenocarcinoma(81;5.77e-06)		AGGCCTGACATTTTTATACTG	0.403													15	35	---	---	---	---						-	160103610	T	-	160103610	7	5	242	1	0	1	0	1	0	0	0	0	14975	1493	52	0	88	0	SOD2	6	160103610	Frame_Shift_Del	DEL	T	TCGA-KK-A59V-01A-11D-A29Q-08	5691414	160103610	11011457	397	12011											
TCP10	6953	broad.mit.edu	37	chr6	167787857	167787858	+	Frame_Shift_Ins	INS	-	-	G																															cctgccgctctgcactgtctINSggggcagaactggcgaactc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr6:167787857_167787858insG	ENST00000366827.2	-	7	981_982	c.770_771insC	c.(769-771)cgafs	p.R257fs	TCP10_ENST00000397829.4_Frame_Shift_Ins_p.R257fs			Q12799	TCP10_HUMAN	t-complex 10	284						cytosol				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		CTGCACTGTCTGGGGCAGAACT	0.559													7	31	---	---	---	---						G	167787858	-	G	167787857	7	5	242	1	0	1	1	0	0	0	0	0	15770	1567	55	0	217	0	TCP10	6	167787857	Frame_Shift_Ins	INS	-	TCGA-KK-A59V-01A-11D-A29Q-08	7684247	167787857	3327210	398	12012											
ZFAND2A	90637	broad.mit.edu	37	chr7	1192812	1192812	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgggcacataccatctgcaGcatctctttcttcttgcagc	7	14	7	13	0	4	0	0	0	4	0	5	0	4	0	1	1	5	4	1	1	1	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:1192812G>A	ENST00000401903.1	-	5	590	c.331C>T	c.(331-333)Ctg>Ttg	p.L111L	ZFAND2A_ENST00000316495.3_Silent_p.L111L			Q8N6M9	ZFN2A_HUMAN	zinc finger, AN1-type domain 2A	111						cytoplasm|nucleus	zinc ion binding			lung(2)|ovary(1)	3		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.82e-15)		ACCATCTGCAGCATCTCTTTC	0.483													6	78					0	0	1	0	0	A	1192812	G	A	1192812	2	1	242	1	0	0	0	0	0	0	0	1	17685	962	34	2		2	ZFAND2A	7	1192812	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08		1192812	157945851	399	12013											
EIF3B	8662	broad.mit.edu	37	chr7	2404100	2404100	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctctatgggggggagagaaaTtcaagcaaattcagagattc	14	9	12	6	0	3	2	2	0	1	2	4	5	3	3	0	3	1	1	0	3	4	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:2404100T>A	ENST00000360876.4	+	6	1149	c.1093T>A	c.(1093-1095)Ttc>Atc	p.F365I	EIF3B_ENST00000397011.2_Missense_Mutation_p.F365I	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3, subunit B	365	Sufficient for interaction with EIF3E.				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		GGGAGAGAAATTCAAGCAAAT	0.478													6	130					0	0	1	0	0	A	2404100	T	A	2404100	3	1	242	1	0	0	0	0	1	0	0	0	5039	1493	52	5	1115	5	EIF3B	7	2404100	Missense_Mutation	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	1211288	2404100	156734563	400	12014											
TTYH3	80727	broad.mit.edu	37	chr7	2691855	2691855	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctggcctgctcgccccgCgccgccaaccccttccagca	5	6	8	22	4	0	0	0	0	0	0	2	0	1	0	9	1	4	2	9	1	2	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:2691855C>T	ENST00000258796.7	+	8	1111	c.906C>T	c.(904-906)cgC>cgT	p.R302R	TTYH3_ENST00000403167.1_Silent_p.R131R|TTYH3_ENST00000407643.1_Silent_p.R270R	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	302						chloride channel complex|plasma membrane	chloride channel activity			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		GCTCGCCCCGCGCCGCCAACC	0.642													7	52					0	0	1	0	0	T	2691855	C	T	2691855	2	4	242	1	0	0	0	0	0	0	0	1	16803	755	27	1		1	TTYH3	7	2691855	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	287755	2691855	156446808	401	12015											
AMZ1	155185	broad.mit.edu	37	chr7	2751998	2751998	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactcaggcggtggtggggaCgtggcccagccaggaggcgg	6	4	21	10	3	1	0	1	0	0	0	1	3	1	2	2	9	1	0	2	9	0	0	rs149900602		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:2751998C>T	ENST00000312371.4	+	7	1351	c.983C>T	c.(982-984)aCg>aTg	p.T328M	AMZ1_ENST00000489665.1_Intron|AMZ1_ENST00000407112.1_Silent_p.D271D	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	328							metallopeptidase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		GTGGTGGGGACGTGGCCCAGC	0.662													10	17					0	0	1	0	0	T	2751998	C	T	2751998	3	4	242	1	0	0	0	0	1	0	0	0	592	536	19	1	1005	1	AMZ1	7	2751998	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	60143	2751998	156386665	402	12016											
SDK1	221935	broad.mit.edu	37	chr7	3998621	3998622	+	Frame_Shift_Del	DEL	TG	TG	-																															tcagctgaagtagaagaaacTgtggacatcggatgtcaagc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:3998621_3998622delTG	ENST00000404826.2	+	8	1348_1349	c.1209_1210delTG	c.(1207-1212)actgfs	p.TV403fs	SDK1_ENST00000389531.3_Frame_Shift_Del_p.TV403fs	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	403	Ig-like C2-type 4.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TAGAAGAAACTGTGGACATCGG	0.465													35	127	---	---	---	---						-	3998622	TG	-	3998621	7	5	242	1	0	1	0	1	0	0	0	0	14022	1567	55	0	1239	0	SDK1	7	3998621	Frame_Shift_Del	DEL	TG	TCGA-KK-A59V-01A-11D-A29Q-08	1246623	3998621	155140042	403	12017											
SDK1	221935	broad.mit.edu	37	chr7	4185504	4185504	+	Frame_Shift_Del	DEL	G	G	-																															cgccaagacgaggcagggctGgggggagccactggaggcca																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:4185504delG	ENST00000404826.2	+	29	4518	c.4379delG	c.(4378-4380)tgfs	p.W1460fs	SDK1_ENST00000389531.3_Frame_Shift_Del_p.W1460fs	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1460	Fibronectin type-III 8.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AGGCAGGGCTGGGGGGAGCCA	0.642													38	70	---	---	---	---						-	4185504	G	-	4185504	7	5	242	1	0	1	0	1	0	0	0	0	14022	1357	47	0	4493	0	SDK1	7	4185504	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	186883	4185504	154953159	404	12018											
RNF216	54476	broad.mit.edu	37	chr7	5662502	5662502	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggggccatcagaagcgatGccgcggctgggggccaaagt	8	5	17	11	4	1	1	1	0	0	1	2	2	1	1	3	5	2	1	3	5	2	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:5662502G>A	ENST00000425013.2	-	17	2814	c.2590C>T	c.(2590-2592)Cat>Tat	p.H864Y	RNF216_ENST00000389902.3_Missense_Mutation_p.H921Y	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	864					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		CAGAAGCGATGCCGCGGCTGG	0.622													10	243					0	0	1	0	0	A	5662502	G	A	5662502	3	1	242	1	0	0	0	0	1	0	0	0	13532	1319	46	2	14	2	RNF216	7	5662502	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1476998	5662502	153476161	405	12019											
USP42	84132	broad.mit.edu	37	chr7	6193761	6193761	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagggttgagtccggctcCgcctgcgcggtcggaggagc	5	6	19	11	5	0	1	0	1	0	0	3	4	2	4	3	6	2	2	3	6	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:6193761C>T	ENST00000306177.5	+	15	2734	c.2576C>T	c.(2575-2577)cCg>cTg	p.P859L		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	859	Pro-rich.				cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		AGTCCGGCTCCGCCTGCGCGG	0.716													22	60					0	0	1	0	0	T	6193761	C	T	6193761	3	4	242	1	0	0	0	0	1	0	0	0	17133	652	23	1		1	USP42	7	6193761	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	531259	6193761	152944902	406	12020											
CYTH3	9265	broad.mit.edu	37	chr7	6204578	6204578	+	Frame_Shift_Del	DEL	T	T	-																															tcttttagccaggaaagctaTtttttattggcaatccttcg																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:6204578delT	ENST00000350796.3	-	13	1333	c.1197delA	c.(1195-1197)aafs	p.K399fs	CYTH3_ENST00000396741.2_Frame_Shift_Del_p.K314fs	NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN	cytohesin 3	400					regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|membrane fraction|plasma membrane	1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						AGGAAAGCTATTTTTTATTGG	0.532													14	521	---	---	---	---						-	6204578	T	-	6204578	7	5	242	1	0	1	0	1	0	0	0	0	4228	1490	52	0	6	0	CYTH3	7	6204578	Frame_Shift_Del	DEL	T	TCGA-KK-A59V-01A-11D-A29Q-08	10817	6204578	152934085	407	12021											
C7orf26	79034	broad.mit.edu	37	chr7	6639708	6639708	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtcacaaaggacccgggcGtggggatggacagagactcc	11	4	16	10	2	1	1	1	0	0	1	2	5	2	4	2	6	0	0	2	6	1	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:6639708G>A	ENST00000344417.5	+	4	1096	c.829G>A	c.(829-831)Gtg>Atg	p.V277M	C7orf26_ENST00000472693.1_3'UTR|C7orf26_ENST00000359073.5_Intron	NM_024067.2	NP_076972.2	Q96N11	CG026_HUMAN	chromosome 7 open reading frame 26	277										endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	11		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)		GGACCCGGGCGTGGGGATGGA	0.552													12	48					0	0	1	0	0	A	6639708	G	A	6639708	3	1	242	1	0	0	0	0	1	0	0	0	2397	1145	40	1	843	1	C7orf26	7	6639708	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	435130	6639708	152498955	408	12022											
GLCCI1	113263	broad.mit.edu	37	chr7	8126004	8126004	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagctttggcaactctgaccGttgagcagctctcatcccgg	7	10	10	14	2	2	2	1	2	2	0	4	2	3	2	2	2	4	5	2	2	1	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:8126004G>A	ENST00000223145.5	+	8	2037	c.1480G>A	c.(1480-1482)Gtt>Att	p.V494I		NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	494										endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		AACTCTGACCGTTGAGCAGCT	0.552													38	408					0	0	1	0	0	A	8126004	G	A	8126004	3	1	242	1	0	0	0	0	1	0	0	0	6473	1145	40	1	1510	1	GLCCI1	7	8126004	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1486296	8126004	151012659	409	12023											
ETV1	2115	broad.mit.edu	37	chr7	13949263	13949263	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtgtaaaacctaccatcgaAtttttctgggacaacacagg	14	10	8	9	1	1	0	0	0	1	0	2	2	1	1	2	2	3	1	2	2	5	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:13949263A>T	ENST00000343495.5	-	10	1618	c.880T>A	c.(880-882)Ttc>Atc	p.F294I	ETV1_ENST00000242066.5_Missense_Mutation_p.F294I|ETV1_ENST00000405358.4_Missense_Mutation_p.F326I|ETV1_ENST00000403685.1_Missense_Mutation_p.F294I|ETV1_ENST00000420159.2_Missense_Mutation_p.F254I|ETV1_ENST00000399357.3_Missense_Mutation_p.F209I|ETV1_ENST00000430479.1_Missense_Mutation_p.F312I|ETV1_ENST00000405218.2_Missense_Mutation_p.F312I|ETV1_ENST00000405192.2_Missense_Mutation_p.F289I|ETV1_ENST00000403527.1_Missense_Mutation_p.F272I			P50549	ETV1_HUMAN	ets variant 1	312					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						CTACCATCGAATTTTTCTGGG	0.383			T	"EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"	"Ewing sarcoma, prostate"								6	140					0	0	1	0	0	T	13949263	A	T	13949263	3	4	242	1	0	0	0	0	1	0	0	0	5305	101	4	5	515	5	ETV1	7	13949263	Missense_Mutation	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	5823259	13949263	145189400	410	12024											
DGKB	1607	broad.mit.edu	37	chr7	14647099	14647099	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaaagactgtaaacctgacGaggatttaatagatactgga	17	9	10	5	1	0	4	0	1	0	3	0	7	0	6	1	2	2	1	1	2	6	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:14647099G>A	ENST00000403951.2	-	17	1815	c.1396C>T	c.(1396-1398)Cgt>Tgt	p.R466C	DGKB_ENST00000258767.5_Missense_Mutation_p.R466C|DGKB_ENST00000444700.2_Missense_Mutation_p.R447C|DGKB_ENST00000399322.3_Missense_Mutation_p.R466C|DGKB_ENST00000407950.1_Missense_Mutation_p.R458C|DGKB_ENST00000406247.3_Missense_Mutation_p.R466C|DGKB_ENST00000402815.1_Missense_Mutation_p.R465C|DGKB_ENST00000403963.1_5'UTR			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	466	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	p.R466G(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	TAAACCTGACGAGGATTTAAT	0.279													13	24					0	0	1	0	0	A	14647099	G	A	14647099	3	1	242	1	0	0	0	0	1	0	0	0	4494	1058	37	1	1073	1	DGKB	7	14647099	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	697836	14647099	144491564	411	12025											
AGR3	155465	broad.mit.edu	37	chr7	16913405	16913405	+	Splice_Site	DEL	T	T	-																															gagctgagaagcatgttaccTtttttgagcataaaagagac																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:16913405delT	ENST00000310398.2	-	3	242	c.173_splice	c.e3+1	p.S58_splice	AGR3_ENST00000402239.3_Splice_Site_p.S58_splice	NM_176813.3	NP_789783.1	Q8TD06	AGR3_HUMAN	anterior gradient 3	58						extracellular region				central_nervous_system(1)|kidney(8)|lung(2)|skin(1)|stomach(1)	13	Lung NSC(10;0.0376)|all_lung(11;0.0721)|all_epithelial(12;0.202)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		GCATGTTACCTTTTTTGAGCA	0.333													22	47	---	---	---	---						-	16913405	T	-	16913405	8	5	242	1	0	1	0	1	0	0	1	0	393	1623	56	0	352	0	AGR3	7	16913405	Splice_Site	DEL	T	TCGA-KK-A59V-01A-11D-A29Q-08	2266306	16913405	142225258	412	12026											
IL6	3569	broad.mit.edu	37	chr7	22767150	22767150	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agtacccccaggagaagattCcaaagatgtagccgccccac	13	5	9	14	1	0	3	0	0	0	3	1	4	1	3	6	1	2	2	6	1	4	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:22767150C>T	ENST00000404625.1	+	3	566	c.107C>T	c.(106-108)tCc>tTc	p.S36F	IL6_ENST00000258743.5_Missense_Mutation_p.S36F|IL6_ENST00000420258.2_Missense_Mutation_p.S90F|IL6_ENST00000407492.1_Intron|IL6_ENST00000401651.1_Intron|IL6_ENST00000406575.1_Missense_Mutation_p.S36F|IL6_ENST00000401630.3_Missense_Mutation_p.S13F|AC073072.5_ENST00000325042.2_RNA			P05231	IL6_HUMAN	interleukin 6 (interferon, beta 2)	36					acute-phase response|cellular response to hydrogen peroxide|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|defense response to virus|endocrine pancreas development|glucagon secretion|hepatic immune response|interleukin-6-mediated signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of chemokine biosynthetic process|negative regulation of collagen biosynthetic process|negative regulation of fat cell differentiation|negative regulation of lipid storage|neuron projection development|neutrophil apoptosis|platelet activation|positive regulation of acute inflammatory response|positive regulation of anti-apoptosis|positive regulation of B cell activation|positive regulation of chemokine production|positive regulation of immunoglobulin secretion|positive regulation of interleukin-6 production|positive regulation of osteoblast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of smooth muscle cell proliferation|positive regulation of T cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of translation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of vascular endothelial growth factor production|response to glucocorticoid stimulus|response to peptidoglycan	extracellular space|interleukin-6 receptor complex	cytokine activity|growth factor activity|interleukin-6 receptor binding			breast(1)|endometrium(2)|large_intestine(4)|lung(1)	8					Arsenic trioxide(DB01169)|Bicalutamide(DB01128)|Ginseng(DB01404)|Simvastatin(DB00641)	GGAGAAGATTCCAAAGATGTA	0.587													32	77					0	0	1	0	0	T	22767150	C	T	22767150	3	4	242	1	0	0	0	0	1	0	0	0	7745	855	30	2	113	2	IL6	7	22767150	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	5853745	22767150	136371513	413	12027											
EVX1	2128	broad.mit.edu	37	chr7	27285737	27285737	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcagcggctcgctgcgccCgctcgacacgttccgcgtgc	3	8	12	18	8	1	0	1	0	0	0	4	1	2	0	2	1	3	4	2	1	0	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:27285737C>T	ENST00000496902.4	+	3	1403	c.917C>T	c.(916-918)cCg>cTg	p.P306L	EVX1_ENST00000535619.1_Missense_Mutation_p.P124L|EVX1_ENST00000222761.3_3'UTR|EVX1-AS_ENST00000517726.1_RNA			P49640	EVX1_HUMAN	even-skipped homeobox 1	306						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						TCGCTGCGCCCGCTCGACACG	0.761													5	16					0	0	1	0	0	T	27285737	C	T	27285737	3	4	242	1	0	0	0	0	1	0	0	0	5321	652	23	1	927	1	EVX1	7	27285737	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	4518587	27285737	131852926	414	12028											
PLEKHA8	84725	broad.mit.edu	37	chr7	30094419	30094419	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagactcaagttgctctccGgaatgcctctgggaggaagg	9	9	13	10	1	4	1	2	0	2	1	5	4	4	4	2	4	2	2	2	4	3	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:30094419G>A	ENST00000449726.1	+	8	1241	c.891G>A	c.(889-891)ccG>ccA	p.P297P	PLEKHA8_ENST00000396257.2_Silent_p.P297P|PLEKHA8_ENST00000396259.1_Silent_p.P297P|PLEKHA8_ENST00000258679.7_Silent_p.P297P	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	297					protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						GTTGCTCTCCGGAATGCCTCT	0.408													23	86					0	0	1	0	0	A	30094419	G	A	30094419	2	1	242	1	0	0	0	0	0	0	0	1	12110	1103	39	1		1	PLEKHA8	7	30094419	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	2808682	30094419	129044244	415	12029											
NOD1	10392	broad.mit.edu	37	chr7	30491788	30491788	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcagggtcatcgtgcagtcGggcagctgtggtgagccttc	5	10	16	10	2	2	1	2	1	0	0	5	1	2	1	1	3	3	3	1	3	0	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:30491788G>A	ENST00000222823.4	-	6	1770	c.1245C>T	c.(1243-1245)ccC>ccT	p.P415P	NOD1_ENST00000423334.2_3'UTR	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	415	NACHT.				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						TCGTGCAGTCGGGCAGCTGTG	0.602													8	110					0	0	1	0	0	A	30491788	G	A	30491788	2	1	242	1	0	0	0	0	0	0	0	1	10563	1103	39	1		1	NOD1	7	30491788	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	397369	30491788	128646875	416	12030											
CCDC129	223075	broad.mit.edu	37	chr7	31683138	31683138	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtcctccagcctggtgtcGgctgctcagagggctgtggc	4	10	15	12	1	1	1	1	0	0	1	4	1	3	1	3	4	2	3	3	4	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:31683138G>A	ENST00000319386.3	+	11	2703	c.1710G>A	c.(1708-1710)tcG>tcA	p.S570S	CCDC129_ENST00000409210.1_Silent_p.S626S|CCDC129_ENST00000407970.3_Silent_p.S718S|CCDC129_ENST00000451887.2_Silent_p.S744S			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	718										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						GCCTGGTGTCGGCTGCTCAGA	0.527													25	64					0	0	1	0	0	A	31683138	G	A	31683138	2	1	242	1	0	0	0	0	0	0	0	1	2782	1103	39	1		1	CCDC129	7	31683138	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1191350	31683138	127455525	417	12031											
VPS41	27072	broad.mit.edu	37	chr7	38829422	38829422	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tatttcaacatatcgacttgGcaaatccctcatttcactgg	11	14	5	11	1	3	0	3	0	0	0	5	1	4	0	1	2	1	1	1	2	4	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:38829422G>A	ENST00000310301.4	-	10	817	c.763C>T	c.(763-765)Cca>Tca	p.P255S	VPS41_ENST00000466017.1_5'UTR|VPS41_ENST00000395969.2_Missense_Mutation_p.P230S	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	255					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						TATCGACTTGGCAAATCCCTC	0.393													29	72					0	0	1	0	0	A	38829422	G	A	38829422	3	1	242	1	0	0	0	0	1	0	0	0	17270	1203	42	2	1881	2	VPS41	7	38829422	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	7146284	38829422	120309241	418	12032											
URGCP	55665	broad.mit.edu	37	chr7	43916458	43916458	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgtgctgcttctcagggtcGcagaaggccaggcctgccag	7	8	14	12	1	1	1	1	0	1	1	3	1	1	1	3	3	3	3	3	3	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:43916458G>A	ENST00000336086.6	-	4	4711	c.2475C>T	c.(2473-2475)tgC>tgT	p.C825C	URGCP_ENST00000443736.1_Silent_p.C825C|RP5-1165K10.1_ENST00000603700.1_Intron|URGCP_ENST00000453200.1_Silent_p.C868C|URGCP_ENST00000402306.3_Silent_p.C859C|URGCP_ENST00000223341.7_Silent_p.C825C|URGCP_ENST00000447717.3_Silent_p.C825C|URGCP_ENST00000497914.1_5'UTR			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	868					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TCTCAGGGTCGCAGAAGGCCA	0.617													23	36					0	0	1	0	0	A	43916458	G	A	43916458	2	1	242	1	0	0	0	0	0	0	0	1	17086	1079	38	1		1	URGCP	7	43916458	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	5087036	43916458	115222205	419	12033											
URGCP	55665	broad.mit.edu	37	chr7	43917567	43917567	+	Frame_Shift_Del	DEL	C	C	-																															ggctgcctttctccaggggtCcccctgcagcctcagctcgt																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:43917567delC	ENST00000336086.6	-	4	3602	c.1366delG	c.(1366-1368)acfs	p.D456fs	URGCP_ENST00000402306.3_Frame_Shift_Del_p.D490fs|URGCP_ENST00000223341.7_Frame_Shift_Del_p.D456fs|URGCP_ENST00000497914.1_5'UTR|RP5-1165K10.1_ENST00000603700.1_Intron|URGCP_ENST00000447717.3_Frame_Shift_Del_p.D456fs|URGCP_ENST00000443736.1_Frame_Shift_Del_p.D456fs|URGCP_ENST00000453200.1_Frame_Shift_Del_p.D499fs			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	499					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTCCAGGGGTCCCCCTGCAGC	0.602													42	111	---	---	---	---						-	43917567	C	-	43917567	7	5	242	1	0	1	0	1	0	0	0	0	17086	855	30	0	1304	0	URGCP	7	43917567	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	1109	43917567	115221096	420	12034											
POLM	27434	broad.mit.edu	37	chr7	44120414	44120414	+	Frame_Shift_Del	DEL	G	G	-																															agcttatgtccagcagagctGggggggtgcaacccggggga																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:44120414delG	ENST00000242248.5	-	2	391	c.290delC	c.(289-291)cafs	p.P97fs	POLM_ENST00000335195.6_Frame_Shift_Del_p.P97fs|POLM_ENST00000395831.3_Frame_Shift_Del_p.P97fs	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	97	BRCT.				DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						CAGCAGAGCTGGGGGGGTGCA	0.637								DNA polymerases (catalytic subunits)					12	151	---	---	---	---						-	44120414	G	-	44120414	7	5	242	1	0	1	0	1	0	0	0	0	12254	1348	47	0	1234	0	POLM	7	44120414	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	202847	44120414	115018249	421	12035											
NUDCD3	23386	broad.mit.edu	37	chr7	44431997	44431997	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atccacggtggccatggagcGctccttgttgatcttgtcaa	7	12	11	11	2	2	1	1	1	1	0	4	2	4	2	3	3	1	2	3	3	1	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:44431997G>A	ENST00000355451.6	-	5	1153	c.874C>T	c.(874-876)Cgc>Tgc	p.R292C	NUDCD3_ENST00000460110.1_5'UTR	NM_015332.3	NP_056147.2	Q8IVD9	NUDC3_HUMAN	NudC domain containing 3	292										endometrium(2)|large_intestine(1)|lung(3)|skin(1)	7						GCCATGGAGCGCTCCTTGTTG	0.572													47	119					0	0	1	0	0	A	44431997	G	A	44431997	3	1	242	1	0	0	0	0	1	0	0	0	10772	1087	38	1	219	1	NUDCD3	7	44431997	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	311583	44431997	114706666	422	12036											
IKZF1	10320	broad.mit.edu	37	chr7	50467961	50467961	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctgccaagactccacggAcaccgagagcaacaacgagg	14	2	11	14	3	0	2	0	0	0	2	1	5	1	3	3	2	5	2	3	2	3	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:50467961A>G	ENST00000331340.3	+	8	1351	c.1196A>G	c.(1195-1197)gAc>gGc	p.D399G	IKZF1_ENST00000346667.4_Missense_Mutation_p.D169G|IKZF1_ENST00000438033.1_Missense_Mutation_p.D312G|IKZF1_ENST00000439701.1_Missense_Mutation_p.D357G|IKZF1_ENST00000343574.5_Missense_Mutation_p.D312G|IKZF1_ENST00000349824.4_Missense_Mutation_p.D256G|IKZF1_ENST00000359197.5_Missense_Mutation_p.D357G|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000357364.4_Missense_Mutation_p.D312G	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	399					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GACTCCACGGACACCGAGAGC	0.657			"D,T"	BCL6	"ALL, DLBCL"								9	23					0	0	1	0	0	G	50467961	A	G	50467961	3	3	242	1	0	0	0	0	1	0	0	0	7658	275	10	3	1222	3	IKZF1	7	50467961	Missense_Mutation	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	6035964	50467961	108670702	423	12037											
POM121L12	285877	broad.mit.edu	37	chr7	53104142	53104142	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccgtgctggtccagcccGccccatccgccatctgggac	4	8	10	19	3	1	0	0	0	1	0	4	1	4	1	7	2	2	1	7	2	0	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:53104142G>A	ENST00000408890.4	+	1	794	c.778G>A	c.(778-780)Gcc>Acc	p.A260T		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	260										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GGTCCAGCCCGCCCCATCCGC	0.657													8	110					0	0	1	0	0	A	53104142	G	A	53104142	3	1	242	1	0	0	0	0	1	0	0	0	12289	1087	38	1	780	1	POM121L12	7	53104142	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	2636181	53104142	106034521	424	12038											
CLIP2	7461	broad.mit.edu	37	chr7	73731913	73731913	+	Frame_Shift_Del	DEL	G	G	-																															gcctgaagccccccggccgtGgggggaagcactccagcccc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:73731913delG	ENST00000223398.6	+	2	364	c.37delG	c.(37-39)ggfs	p.G14fs	CLIP2_ENST00000395060.1_Frame_Shift_Del_p.G14fs|CLIP2_ENST00000361545.5_Frame_Shift_Del_p.G14fs	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	14						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						CCCCGGCCGTGGGGGGAAGCA	0.657													9	187	---	---	---	---						-	73731913	G	-	73731913	7	5	242	1	0	1	0	1	0	0	0	0	3556	1348	47	0	39	0	CLIP2	7	73731913	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	20627771	73731913	85406750	425	12039											
NCF1	653361	broad.mit.edu	37	chr7	74202414	74202414	+	Frame_Shift_Del	DEL	G	G	-																															ggcccaacgccagatcaagcGgggggcgccgccccgcaggt																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:74202414delG	ENST00000289473.4	+	9	957	c.887delG	c.(886-888)cgfs	p.R296fs		NM_000265.4	NP_000256.3	P14598	NCF1_HUMAN	neutrophil cytosolic factor 1	296	Arg/Lys-rich (highly basic).				cell communication|cellular defense response|innate immune response|protein targeting to membrane|respiratory burst|superoxide anion generation	cytosol|NADPH oxidase complex|soluble fraction	electron carrier activity|GTP binding|GTPase activity|phosphatidylinositol binding|SH3 domain binding|superoxide-generating NADPH oxidase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10						CAGATCAAGCGGGGGGCGCCG	0.667													3	5	---	---	---	---						-	74202414	G	-	74202414	7	5	242	1	0	1	0	1	0	0	0	0	10263	1116	39	0	921	0	NCF1	7	74202414	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	470501	74202414	84936249	426	12040											
DTX2	113878	broad.mit.edu	37	chr7	76111999	76112000	+	Frame_Shift_Ins	INS	-	-	G																															ctcgtggacttggcccccctINSggggtacaactacactgtca																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:76111999_76112000insG	ENST00000324432.5	+	5	953_954	c.443_444insG	c.(442-444)cggfs	p.R148fs	DTX2_ENST00000446820.2_Frame_Shift_Ins_p.R148fs|DTX2_ENST00000307569.8_Frame_Shift_Ins_p.R148fs|DTX2_ENST00000430490.2_Frame_Shift_Ins_p.R148fs|DTX2_ENST00000413936.2_Frame_Shift_Ins_p.R148fs|DTX2_ENST00000446600.1_Frame_Shift_Ins_p.R57fs	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex homolog 2 (Drosophila)	148	WWE 2.				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						TTGGCCCCCCTGGGGTACAACT	0.629													7	64	---	---	---	---						G	76112000	-	G	76111999	7	5	242	1	0	1	1	0	0	0	0	0	4820	1580	55	0	449	0	DTX2	7	76111999	Frame_Shift_Ins	INS	-	TCGA-KK-A59V-01A-11D-A29Q-08	1909585	76111999	83026664	427	12041											
PCLO	27445	broad.mit.edu	37	chr7	82580189	82580189	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaacctttgaatttcctgacGttcccactccaattcctcag	9	13	5	14	1	1	2	1	2	0	0	5	3	5	2	5	0	1	1	5	0	3	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:82580189G>A	ENST00000423517.2	-	6	10052	c.9715C>T	c.(9715-9717)Cgt>Tgt	p.R3239C	PCLO_ENST00000333891.8_Missense_Mutation_p.R3239C	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3170	Gln-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						ATTTCCTGACGTTCCCACTCC	0.448													31	75					0	0	1	0	0	A	82580189	G	A	82580189	3	1	242	1	0	0	0	0	1	0	0	0	11630	1145	40	1	5810	1	PCLO	7	82580189	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	6468190	82580189	76558474	428	12042											
PCLO	27445	broad.mit.edu	37	chr7	82581482	82581482	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccctgcggttaaatcaacGggtttttcatcttctattat	8	17	6	10	2	4	0	2	0	2	0	5	0	5	0	1	2	2	2	1	2	5	6			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:82581482G>A	ENST00000423517.2	-	5	9124	c.8787C>T	c.(8785-8787)ccC>ccT	p.P2929P	PCLO_ENST00000333891.8_Silent_p.P2929P	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2860					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						TTAAATCAACGGGTTTTTCAT	0.428													13	121					0	0	1	0	0	A	82581482	G	A	82581482	2	1	242	1	0	0	0	0	0	0	0	1	11630	1103	39	1		1	PCLO	7	82581482	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1293	82581482	76557181	429	12043											
PCLO	27445	broad.mit.edu	37	chr7	82583452	82583452	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggtactacagattctatgaTagaagatgccatatcagata	16	11	8	6	0	2	5	1	1	1	4	2	5	2	5	1	1	3	1	1	1	7	7			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:82583452T>C	ENST00000423517.2	-	5	7154	c.6817A>G	c.(6817-6819)Atc>Gtc	p.I2273V	PCLO_ENST00000333891.8_Missense_Mutation_p.I2273V	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2204					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						GATTCTATGATAGAAGATGCC	0.403													7	116					0	0	1	0	0	C	82583452	T	C	82583452	3	2	242	1	0	0	0	0	1	0	0	0	11630	1406	49	3	8712	3	PCLO	7	82583452	Missense_Mutation	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	1970	82583452	76555211	430	12044											
CROT	54677	broad.mit.edu	37	chr7	87006704	87006704	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggagatccaacagtacgcTggggtgacaaatcctataac	13	9	10	9	1	0	2	0	1	0	1	2	3	2	2	2	3	3	2	2	3	5	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:87006704T>G	ENST00000331536.3	+	10	1101	c.916T>G	c.(916-918)Tgg>Ggg	p.W306G	CROT_ENST00000442291.1_Missense_Mutation_p.W306G|CROT_ENST00000419147.2_Missense_Mutation_p.W334G	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	306					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	AACAGTACGCTGGGGTGACAA	0.294													8	22					0	0	1	0	0	G	87006704	T	G	87006704	3	3	242	1	0	0	0	0	1	0	0	0	3917	1580	55	5	1034	5	CROT	7	87006704	Missense_Mutation	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	4423252	87006704	72131959	431	12045											
SRI	6717	broad.mit.edu	37	chr7	87838684	87838684	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcagtttgacgcagcaggCgatgtagtcgtcgaaggtga	9	9	14	9	4	1	2	1	2	0	0	3	4	1	2	1	2	1	4	1	2	2	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:87838684C>T	ENST00000265729.2	-	6	533	c.481G>A	c.(481-483)Gcc>Acc	p.A161T	SRI_ENST00000394641.3_Missense_Mutation_p.A146T|SRI_ENST00000431660.1_Missense_Mutation_p.A146T|SRI_ENST00000490437.1_Missense_Mutation_p.A118T|SRI_ENST00000419179.1_Missense_Mutation_p.A121T	NM_003130.3	NP_003121.1	P30626	SORCN_HUMAN	sorcin	161	EF-hand 4.				heart development|intracellular sequestering of iron ion|muscle organ development|regulation of action potential|regulation of heart contraction|regulation of striated muscle contraction|signal transduction	sarcoplasmic reticulum membrane	calcium channel regulator activity|calcium ion binding|receptor binding			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(14;0.00202)					ACGCAGCAGGCGATGTAGTCG	0.443													11	40					0	0	1	0	0	T	87838684	C	T	87838684	3	4	242	1	0	0	0	0	1	0	0	0	15205	768	27	1	127	1	SRI	7	87838684	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	831980	87838684	71299979	432	12046											
PPP1R9A	55607	broad.mit.edu	37	chr7	94898626	94898626	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgttccacccctcaccccGgtggatagcaatgtgccctt	6	10	10	15	1	1	0	1	0	0	0	2	1	2	1	6	3	2	2	6	3	2	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:94898626G>A	ENST00000289495.5	+	12	3027	c.2811G>A	c.(2809-2811)ccG>ccA	p.P937P	PPP1R9A_ENST00000433881.1_Intron|PPP1R9A_ENST00000424654.1_Silent_p.P955P|PPP1R9A_ENST00000433360.1_Silent_p.P977P|PPP1R9A_ENST00000456331.2_Silent_p.P955P|PPP1R9A_ENST00000340694.4_Intron	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	932	Interacts with TGN38 (By similarity).					cell junction|synapse|synaptosome	actin binding	p.P955P(1)|p.P977P(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			CCCTCACCCCGGTGGATAGCA	0.478										HNSCC(28;0.073)			12	43					0	0	1	0	0	A	94898626	G	A	94898626	2	1	242	1	0	0	0	0	0	0	0	1	12427	1103	39	1		1	PPP1R9A	7	94898626	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	7059942	94898626	64240037	433	12047											
DYNC1I1	1780	broad.mit.edu	37	chr7	95705442	95705442	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtggtcccccgtgcatcCtgcgctttttgcctgcgtgg	2	13	12	14	3	0	0	0	0	0	0	2	0	2	0	4	2	4	2	4	2	0	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:95705442C>A	ENST00000324972.6	+	15	1827	c.1634C>A	c.(1633-1635)cCt>cAt	p.P545H	DYNC1I1_ENST00000457059.1_Missense_Mutation_p.P528H|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.P528H|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.P525H|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.P508H|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.P508H	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	545					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			CCCGTGCATCCTGCGCTTTTT	0.592											OREG0018174	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	72					4.62619e-21	4.85503e-21	1	1	0	A	95705442	C	A	95705442	3	1	242	1	0	0	0	0	1	0	0	0	4868	681	24	4	1688	4	DYNC1I1	7	95705442	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	806816	95705442	63433221	434	12048											
CYP3A7	1551	broad.mit.edu	37	chr7	99305556	99305556	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtccacttccaaagggtgtgTatatgtaaggatctatgttg	10	14	11	6	0	1	0	0	0	1	0	3	1	3	1	2	2	0	3	2	2	5	6			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:99305556T>C	ENST00000336374.2	-	12	1297	c.1295A>G	c.(1294-1296)tAc>tGc	p.Y432C		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	432					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					AAAGGGTGTGTATATGTAAGG	0.388													7	162					0	0	1	0	0	C	99305556	T	C	99305556	3	2	242	1	0	0	0	0	1	0	0	0	4204	1638	57	3	224	3	CYP3A7	7	99305556	Missense_Mutation	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	3600114	99305556	59833107	435	12049											
MCM7	4176	broad.mit.edu	37	chr7	99690698	99690698	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcagagaaccggacacttcGgccccctgagaccagttcac	10	6	9	16	2	2	2	2	1	0	2	3	5	2	3	4	2	1	1	4	2	1	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:99690698G>A	ENST00000303887.5	-	15	2662	c.2017C>T	c.(2017-2019)Cga>Tga	p.R673*	MCM7_ENST00000354230.3_Nonsense_Mutation_p.R497*|MCM7_ENST00000343023.6_Nonsense_Mutation_p.R343*	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	673	Interaction with ATRIP.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	CGGACACTTCGGCCCCCTGAG	0.547													11	38					0	0	1	0	0	A	99690698	G	A	99690698	4	1	242	1	0	0	0	0	0	1	0	0	9442	1124	39	1	146	1	MCM7	7	99690698	Nonsense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	385142	99690698	59447965	436	12050											
MOSPD3	64598	broad.mit.edu	37	chr7	100210470	100210470	+	Frame_Shift_Del	DEL	G	G	-																															gggtccggggccccctgggcGggggtcccggggcgcccctc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:100210470delG	ENST00000393950.2	+	1	338	c.56delG	c.(55-57)cgfs	p.R19fs	MOSPD3_ENST00000379527.2_Frame_Shift_Del_p.R19fs|MOSPD3_ENST00000223054.4_Frame_Shift_Del_p.R19fs|MOSPD3_ENST00000424091.2_Frame_Shift_Del_p.R19fs	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN	motile sperm domain containing 3	19						integral to membrane	structural molecule activity			breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					ccccctgggcgggggtcccgg	0.736													14	55	---	---	---	---						-	100210470	G	-	100210470	7	5	242	1	0	1	0	1	0	0	0	0	9766	1116	39	0	58	0	MOSPD3	7	100210470	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	519772	100210470	58928193	437	12051											
MOSPD3	64598	broad.mit.edu	37	chr7	100212599	100212599	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgaactcggcagccagctGcctcaagtcctgcacgtctc	8	7	10	16	3	2	0	1	0	1	0	5	2	3	0	3	1	5	3	3	1	2	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:100212599G>A	ENST00000393950.2	+	4	903	c.621G>A	c.(619-621)ctG>ctA	p.L207L	MOSPD3_ENST00000223054.4_Silent_p.L207L|MOSPD3_ENST00000379527.2_Silent_p.L207L|MOSPD3_ENST00000424091.2_Silent_p.L197L	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN	motile sperm domain containing 3	207						integral to membrane	structural molecule activity			breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GCAGCCAGCTGCCTCAAGTCC	0.617													6	213					0	0	1	0	0	A	100212599	G	A	100212599	2	1	242	1	0	0	0	0	0	0	0	1	9766	1306	46	2		2	MOSPD3	7	100212599	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	2129	100212599	58926064	438	12052											
ACTL6B	51412	broad.mit.edu	37	chr7	100243916	100243916	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatccaggggctgaacttgcGctccatggtgctgttgctgg	5	11	15	10	1	0	1	0	1	0	0	2	2	2	1	2	4	4	5	2	4	1	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:100243916G>A	ENST00000160382.5	-	13	1262	c.1156C>T	c.(1156-1158)Cgc>Tgc	p.R386C		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	386					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton	p.R386C(1)		endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CTGAACTTGCGCTCCATGGTG	0.607													7	34					0	0	1	0	0	A	100243916	G	A	100243916	3	1	242	1	0	0	0	0	1	0	0	0	199	1087	38	1	132	1	ACTL6B	7	100243916	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	31317	100243916	58894747	439	12053											
ZAN	7455	broad.mit.edu	37	chr7	100357394	100357394	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagcagggacaggaaggcGtgtcctgcctgagcaaagtc	11	5	16	9	1	0	1	0	1	0	0	2	4	1	4	2	4	3	2	2	4	2	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:100357394G>A	ENST00000542585.1	+	0	3770				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACAGGAAGGCGTGTCCTGCCT	0.582													6	10					0	0	1	0	0	A	100357394	G	A	100357394	1	1	242	0	1	0	0	0	0	0	0	0	17573	1145	40	1		1	ZAN	7	100357394	RNA	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	113478	100357394	58781269	440	12054											
SRRT	51593	broad.mit.edu	37	chr7	100479773	100479773	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgactcggtggatgagacGgaggccgtcaagcgctataa	11	7	15	8	4	1	2	1	2	0	1	2	6	1	4	1	4	1	1	1	4	3	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:100479773G>A	ENST00000388793.4	+	5	718	c.498G>A	c.(496-498)acG>acA	p.T166T	SRRT_ENST00000432932.1_Silent_p.T166T|SRRT_ENST00000457580.2_Silent_p.T166T|SRRT_ENST00000347433.4_Silent_p.T166T	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	166					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						TGGATGAGACGGAGGCCGTCA	0.567													22	50					0	0	1	0	0	A	100479773	G	A	100479773	2	1	242	1	0	0	0	0	0	0	0	1	15228	1103	39	1		1	SRRT	7	100479773	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	122379	100479773	58658890	441	12055											
ACHE	43	broad.mit.edu	37	chr7	100490935	100490935	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccaggacctgcgctggtcGtgtccgaaggcaggctacca	8	6	13	14	3	0	0	0	0	0	0	2	2	1	1	4	4	2	3	4	4	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:100490935G>A	ENST00000302913.4	-	2	1057	c.919C>T	c.(919-921)Cga>Tga	p.R307*	ACHE_ENST00000411582.1_Nonsense_Mutation_p.R307*|ACHE_ENST00000428317.1_Nonsense_Mutation_p.R307*|ACHE_ENST00000412389.1_Nonsense_Mutation_p.R307*|ACHE_ENST00000419336.2_Nonsense_Mutation_p.R307*|ACHE_ENST00000241069.5_Nonsense_Mutation_p.R307*	NM_015831.2	NP_056646.1	P22303	ACES_HUMAN	acetylcholinesterase	307					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	TGCGCTGGTCGTGTCCGAAGG	0.627													15	26					0	0	1	0	0	A	100490935	G	A	100490935	4	1	242	1	0	0	0	0	0	1	0	0	141	1153	40	1	1076	1	ACHE	7	100490935	Nonsense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	11162	100490935	58647728	442	12056											
SLC26A4	5172	broad.mit.edu	37	chr7	107323940	107323940	+	Frame_Shift_Del	DEL	A	A	-																															ttcatatggagccaacctggAaaaaaattacaatgctggca																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:107323940delA	ENST00000265715.3	+	8	1183	c.959delA	c.(958-960)gafs	p.E320fs		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	320					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						GCCAACCTGGAAAAAAATTAC	0.343									Pendred syndrome				17	56	---	---	---	---						-	107323940	A	-	107323940	7	5	242	1	0	1	0	1	0	0	0	0	14574	246	9	0	985	0	SLC26A4	7	107323940	Frame_Shift_Del	DEL	A	TCGA-KK-A59V-01A-11D-A29Q-08	6833005	107323940	51814723	443	12057											
CADPS2	93664	broad.mit.edu	37	chr7	122078450	122078450	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgatcaaggcagctttctcGagacattttctgaccacttt	9	15	7	10	1	3	3	1	2	2	1	4	4	3	3	1	1	1	2	1	1	1	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:122078450G>A	ENST00000334010.7	-	16	2845	c.2424C>T	c.(2422-2424)ctC>ctT	p.L808L	CADPS2_ENST00000449022.2_Silent_p.L807L|RP5-1101C3.1_ENST00000592542.1_RNA|CADPS2_ENST00000313070.7_Silent_p.L804L|CADPS2_ENST00000412584.2_Silent_p.L804L	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	807	Interaction with DRD2.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						CAGCTTTCTCGAGACATTTTC	0.453													13	25					0	0	1	0	0	A	122078450	G	A	122078450	2	1	242	1	0	0	0	0	0	0	0	1	2589	1045	37	1		1	CADPS2	7	122078450	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	14754510	122078450	37060213	444	12058											
ASB15	142685	broad.mit.edu	37	chr7	123256478	123256478	+	Frame_Shift_Del	DEL	A	A	-																															tgcaatggatgaagctgatgAaaaaggatggtttccattgc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:123256478delA	ENST00000451558.1	+	8	742	c.221delA	c.(220-222)gafs	p.E74fs	RP11-390E23.3_ENST00000422401.1_RNA|RP11-390E23.3_ENST00000418409.1_RNA|ASB15_ENST00000540573.1_Frame_Shift_Del_p.E74fs|RP11-390E23.3_ENST00000440504.1_RNA|ASB15_ENST00000275699.3_Frame_Shift_Del_p.E74fs|ASB15_ENST00000451215.1_Frame_Shift_Del_p.E74fs|ASB15_ENST00000434204.1_Frame_Shift_Del_p.E74fs			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	74					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						GAAGCTGATGAAAAAGGATGG	0.353													16	14	---	---	---	---						-	123256478	A	-	123256478	7	5	242	1	0	1	0	1	0	0	0	0	1018	246	9	0	231	0	ASB15	7	123256478	Frame_Shift_Del	DEL	A	TCGA-KK-A59V-01A-11D-A29Q-08	1178028	123256478	35882185	445	12059											
TSPAN33	340348	broad.mit.edu	37	chr7	128807691	128807691	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctacagctctacaaccagcaGcaccgggctgacccatggta	11	6	9	15	1	1	1	0	1	1	0	1	1	1	1	3	2	6	5	3	2	4	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:128807691G>A	ENST00000289407.4	+	8	937	c.828G>A	c.(826-828)caG>caA	p.Q276Q		NM_178562.3	NP_848657.1	Q86UF1	TSN33_HUMAN	tetraspanin 33	276						integral to membrane				NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						ACAACCAGCAGCACCGGGCTG	0.517													11	22					0	0	1	0	0	A	128807691	G	A	128807691	2	1	242	1	0	0	0	0	0	0	0	1	16709	962	34	2		2	TSPAN33	7	128807691	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	5551213	128807691	30330972	446	12060											
AHCYL2	23382	broad.mit.edu	37	chr7	129064719	129064719	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctttgatcactagggccGcctgctgaaccttagctgct	7	11	9	14	1	1	2	1	2	0	0	1	2	1	2	4	1	4	3	4	1	3	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:129064719G>A	ENST00000325006.3	+	14	1619	c.1565G>A	c.(1564-1566)cGc>cAc	p.R522H	AHCYL2_ENST00000446212.1_Missense_Mutation_p.R420H|AHCYL2_ENST00000474594.1_Missense_Mutation_p.R419H|AHCYL2_ENST00000490911.1_Missense_Mutation_p.R419H|AHCYL2_ENST00000531335.2_Missense_Mutation_p.R441H|AHCYL2_ENST00000446544.2_Missense_Mutation_p.R521H	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	522					one-carbon metabolic process		adenosylhomocysteinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						CACTAGGGCCGCCTGCTGAAC	0.493													17	79					0	0	1	0	0	A	129064719	G	A	129064719	3	1	242	1	0	0	0	0	1	0	0	0	408	1087	38	1	1741	1	AHCYL2	7	129064719	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	257028	129064719	30073944	447	12061											
KLHDC10	23008	broad.mit.edu	37	chr7	129756485	129756485	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacagatggctacatgcccCgggaattggcatctatgtca	10	9	11	11	1	2	1	1	0	1	1	2	2	2	2	2	3	2	3	2	3	3	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:129756485C>T	ENST00000335420.5	+	3	588	c.454C>T	c.(454-456)Cgg>Tgg	p.R152W	KLHDC10_ENST00000495724.1_3'UTR	NM_014997.3	NP_055812.1	Q6PID8	KLD10_HUMAN	kelch domain containing 10	152								p.R152R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1)	17						CTACATGCCCCGGGAATTGGC	0.468													42	99					0	0	1	0	0	T	129756485	C	T	129756485	3	4	242	1	0	0	0	0	1	0	0	0	8398	643	23	1	464	1	KLHDC10	7	129756485	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	691766	129756485	29382178	448	12062											
HIPK2	28996	broad.mit.edu	37	chr7	139285281	139285281	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggaagggtcacatgacCggtcaatagtgcaggctgct	9	9	14	9	1	2	1	2	1	0	0	2	2	2	2	1	4	3	4	1	4	3	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:139285281C>T	ENST00000406875.3	-	11	2411	c.2317G>A	c.(2317-2319)Ggt>Agt	p.G773S	HIPK2_ENST00000342645.6_Missense_Mutation_p.G773S|HIPK2_ENST00000428878.2_Missense_Mutation_p.G746S	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	773	Interaction with POU4F1 (By similarity).|Interaction with SKI and SMAD1.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GTCACATGACCGGTCAATAGT	0.552													7	99					0	0	1	0	0	T	139285281	C	T	139285281	3	4	242	1	0	0	0	0	1	0	0	0	7158	652	23	1	1299	1	HIPK2	7	139285281	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	9528796	139285281	19853382	449	12063											
HIPK2	28996	broad.mit.edu	37	chr7	139299042	139299042	+	Frame_Shift_Del	DEL	G	G	-																															tcaatcttaccttggaagccGgggggacacacgatgagagc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:139299042delG	ENST00000406875.3	-	8	2074	c.1980delC	c.(1978-1980)ccfs	p.P660fs	HIPK2_ENST00000342645.6_Frame_Shift_Del_p.P660fs|HIPK2_ENST00000428878.2_Frame_Shift_Del_p.P633fs	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	660	Interaction with SKI and SMAD1.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					CTTGGAAGCCGGGGGGACACA	0.602													10	33	---	---	---	---						-	139299042	G	-	139299042	7	5	242	1	0	1	0	1	0	0	0	0	7158	1103	39	0	1648	0	HIPK2	7	139299042	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	13761	139299042	19839621	450	12064											
BRAF	673	broad.mit.edu	37	chr7	140482934	140482934	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggtaatgaggcagggggggTagcagacaaacctgtggttg	11	7	18	5	0	0	2	0	1	0	1	0	2	0	2	1	6	2	5	1	6	3	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:140482934T>C	ENST00000288602.6	-	10	1261	c.1201A>G	c.(1201-1203)Acc>Gcc	p.T401A		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	401					activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	GCAGGGGGGGTAGCAGACAAA	0.438		61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				14	26					0	0	1	0	0	C	140482934	T	C	140482934	3	2	242	1	0	0	0	0	1	0	0	0	1498	1638	57	3	1135	3	BRAF	7	140482934	Missense_Mutation	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	1183892	140482934	18655729	451	12065											
PDIA4	9601	broad.mit.edu	37	chr7	148701135	148701135	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggccaggctgttgtacacGggctctagctgcttgcagtg	5	12	14	10	1	1	0	0	0	1	0	1	0	1	0	1	3	4	7	1	3	2	5	rs145077850	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:148701135G>A	ENST00000286091.4	-	10	1921	c.1689C>T	c.(1687-1689)ccC>ccT	p.P563P		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	563	Thioredoxin 3.				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			TGTTGTACACGGGCTCTAGCT	0.582													35	98					0	0	1	0	0	A	148701135	G	A	148701135	2	1	242	1	0	0	0	0	0	0	0	1	11717	1103	39	1		1	PDIA4	7	148701135	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	8218201	148701135	10437528	452	12066											
SSPO	23145	broad.mit.edu	37	chr7	149474811	149474811	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtcgggcttccactacCgcacctttgatggccgccac	5	9	10	17	3	0	1	0	1	0	0	2	1	1	1	6	3	1	2	6	3	1	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:149474811C>T	ENST00000378016.2	+	0	610							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTTCCACTACCGCACCTTTGA	0.687													7	25					0	0	1	0	0	T	149474811	C	T	149474811	1	4	242	0	1	0	0	0	0	0	0	0	15245	652	23	1		1	SSPO	7	149474811	RNA	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	773676	149474811	9663852	453	12067											
SSPO	23145	broad.mit.edu	37	chr7	149485020	149485020	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcagatgagtgtgcccggCatgggcaccacgtgcgctgg	7	7	16	11	3	0	2	0	1	0	1	0	2	0	2	2	3	3	4	2	3	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:149485020C>T	ENST00000378016.2	+	0	3775							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GTGTGCCCGGCATGGGCACCA	0.637													4	7					0	0	1	0	0	T	149485020	C	T	149485020	1	4	242	0	1	0	0	0	0	0	0	0	15245	710	25	2		2	SSPO	7	149485020	RNA	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	10209	149485020	9653643	454	12068											
SSPO	23145	broad.mit.edu	37	chr7	149493460	149493460	+	RNA	DEL	T	T	-																															ccgcatcctctgctggcagcTtttccccagaaactgggatg																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:149493460delT	ENST00000378016.2	+	0	6536							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGCTGGCAGCTTTTCCCCAGA	0.572													12	128	---	---	---	---						-	149493460	T	-	149493460	6	5	242	0	1	1	0	1	0	0	0	0	15245	1623	56	0		0	SSPO	7	149493460	RNA	DEL	T	TCGA-KK-A59V-01A-11D-A29Q-08	8440	149493460	9645203	455	12069											
SSPO	23145	broad.mit.edu	37	chr7	149511934	149511934	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggcagtcccaccggagccGggcgtgcagccggcccccca	5	2	16	18	4	0	0	0	0	0	0	1	1	1	1	7	5	3	2	7	5	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:149511934G>A	ENST00000378016.2	+	0	10484							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CACCGGAGCCGGGCGTGCAGC	0.677													4	1					0	0	1	0	0	A	149511934	G	A	149511934	1	1	242	0	1	0	0	0	0	0	0	0	15245	1116	39	1		1	SSPO	7	149511934	RNA	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	18474	149511934	9626729	456	12070											
NOS3	4846	broad.mit.edu	37	chr7	150707211	150707211	+	Frame_Shift_Del	DEL	C	C	-																															cactatccccaggtggccctCcccccggctgggtgcgggac																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:150707211delC	ENST00000297494.3	+	21	2878	c.2521delC	c.(2521-2523)ccfs	p.P842fs	NOS3_ENST00000461406.1_Frame_Shift_Del_p.P636fs	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	842	FAD-binding FR-type.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	AGGTGGCCCTCCCCCCGGCTG	0.652													9	83	---	---	---	---						-	150707211	C	-	150707211	7	5	242	1	0	1	0	1	0	0	0	0	10591	855	30	0	2881	0	NOS3	7	150707211	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	1195277	150707211	8431452	457	12071											
AGAP3	116988	broad.mit.edu	37	chr7	150839547	150839547	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccctgatgtgcattgagtGctcaggcatccaccgacacc	8	9	10	14	1	1	2	1	2	0	0	2	3	2	2	4	1	3	3	4	1	0	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:150839547G>A	ENST00000397238.2	+	16	2099	c.2099G>A	c.(2098-2100)tGc>tAc	p.C700Y	AGAP3_ENST00000463381.1_Missense_Mutation_p.C369Y	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	664	Arf-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						TGCATTGAGTGCTCAGGCATC	0.627													20	37					0	0	1	0	0	A	150839547	G	A	150839547	3	1	242	1	0	0	0	0	1	0	0	0	368	1319	46	2	2228	2	AGAP3	7	150839547	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	132336	150839547	8299116	458	12072											
AGAP3	116988	broad.mit.edu	37	chr7	150839616	150839616	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgacctcgatgactggcCgcctgagctgctggctgtca	5	10	12	14	2	1	3	1	3	0	0	2	4	1	3	4	2	2	3	4	2	0	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:150839616C>T	ENST00000397238.2	+	16	2168	c.2168C>T	c.(2167-2169)cCg>cTg	p.P723L	AGAP3_ENST00000463381.1_Missense_Mutation_p.P392L	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	687	Arf-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						GATGACTGGCCGCCTGAGCTG	0.652													22	67					0	0	1	0	0	T	150839616	C	T	150839616	3	4	242	1	0	0	0	0	1	0	0	0	368	652	23	1	2297	1	AGAP3	7	150839616	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	69	150839616	8299047	459	12073											
SHH	6469	broad.mit.edu	37	chr7	155595716	155595716	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtggcccccgcacccggagCgtcggcagcacctggagcgg	5	3	17	16	5	0	0	0	0	0	0	1	2	0	2	4	6	3	3	4	6	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:155595716C>T	ENST00000297261.2	-	3	1417	c.1267G>A	c.(1267-1269)Gct>Act	p.A423T		NM_000193.2	NP_000184.1	Q15465	SHH_HUMAN	sonic hedgehog	423					androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding			central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCACCCGGAGCGTCGGCAGCA	0.756													8	19					0	0	1	0	0	T	155595716	C	T	155595716	3	4	242	1	0	0	0	0	1	0	0	0	14334	768	27	1	125	1	SHH	7	155595716	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	4756100	155595716	3542947	460	12074											
UBE3C	9690	broad.mit.edu	37	chr7	157049709	157049709	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgaagtttgtaacaagcTgctctcgaccccctctcttg	7	13	8	13	1	2	1	0	1	2	0	4	2	2	1	2	0	4	5	2	0	3	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr7:157049709T>C	ENST00000348165.5	+	22	3412	c.3052T>C	c.(3052-3054)Tgc>Cgc	p.C1018R		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	1018	HECT.				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		TGTAACAAGCTGCTCTCGACC	0.433													31	82					0	0	1	0	0	C	157049709	T	C	157049709	3	2	242	1	0	0	0	0	1	0	0	0	16942	1580	55	3	3138	3	UBE3C	7	157049709	Missense_Mutation	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	1453993	157049709	2088954	461	12075											
SGK223	0	broad.mit.edu	37	chr8	8176649	8176649	+	Frame_Shift_Del	DEL	G	G	-																															cgcagtcctgctcctgggcaGgggggtgtgtgggcagggca																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:8176649delG	ENST00000520004.1	-	6	3500	c.3236delC	c.(3235-3237)ctfs	p.P1079fs	SGK223_ENST00000330777.4_Frame_Shift_Del_p.P1079fs			Q86YV5	SG223_HUMAN		1079	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity										CTCCTGGGCAGGGGGGTGTGT	0.706													21	153	---	---	---	---						-	8176649	G	-	8176649	7	5	242	1	0	1	0	1	0	0	0	0	14264	1000	35	0	976	0	SGK223	8	8176649	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08		8176649	138187373	462	12076											
TNKS	8658	broad.mit.edu	37	chr8	9623921	9623922	+	Frame_Shift_Ins	INS	-	-	TA																															cacacaaggacaggtcatgcINStatatatgtcacaggtaagc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:9623921_9623922insTA	ENST00000310430.6	+	25	3752_3753	c.3726_3727insTA	c.(3724-3729)tgatatfs	p.*Y1242fs	TNKS_ENST00000518281.1_Frame_Shift_Ins_p.*Y1005fs	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	1242	PARP catalytic.				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		ACAGGTCATGCTATATATGTCA	0.406													9	123	---	---	---	---						TA	9623922	-	TA	9623921	7	5	242	1	0	1	1	0	0	0	0	0	16379	805	28	0	3824	0	TNKS	8	9623921	Frame_Shift_Ins	INS	-	TCGA-KK-A59V-01A-11D-A29Q-08	1447272	9623921	136740101	463	12077											
RP1L1	94137	broad.mit.edu	37	chr8	10480680	10480680	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaagcactcacggtggctcGgggcctgggcattcctgggg	5	7	18	11	2	1	0	1	0	0	0	3	1	2	1	2	8	1	3	2	8	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:10480680G>A	ENST00000382483.3	-	2	255	c.32C>T	c.(31-33)cCg>cTg	p.P11L	RP1L1_ENST00000329335.3_5'UTR	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	11					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		ACGGTGGCTCGGGGCCTGGGC	0.642													4	118					0	0	1	0	0	A	10480680	G	A	10480680	3	1	242	1	0	0	0	0	1	0	0	0	13585	1116	39	1	7182	1	RP1L1	8	10480680	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	856759	10480680	135883342	464	12078											
DLC1	10395	broad.mit.edu	37	chr8	13356944	13356944	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatatctttcacgttcaaagTatccactgcatttactttgg	11	16	5	9	1	3	0	2	0	1	0	4	0	4	0	1	1	2	3	1	1	5	7			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:13356944T>C	ENST00000276297.4	-	2	1046	c.637A>G	c.(637-639)Act>Gct	p.T213A	DLC1_ENST00000511869.1_Missense_Mutation_p.T213A|DLC1_ENST00000316609.5_Missense_Mutation_p.T213A	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	213					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						ACGTTCAAAGTATCCACTGCA	0.383													5	229					0	0	1	0	0	C	13356944	T	C	13356944	3	2	242	1	0	0	0	0	1	0	0	0	4578	1638	57	3	4102	3	DLC1	8	13356944	Missense_Mutation	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	2876264	13356944	133007078	465	12079											
CNOT7	29883	broad.mit.edu	37	chr8	17102627	17102627	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcaagcccaaacttcacaaAttctttggctatgatctaca	13	12	5	11	0	3	1	1	1	2	0	3	1	3	1	1	1	4	2	1	1	5	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:17102627A>C	ENST00000361272.4	-	2	333	c.35T>G	c.(34-36)aTt>aGt	p.I12S	CNOT7_ENST00000523917.1_Missense_Mutation_p.I12S|CNOT7_ENST00000518885.1_5'UTR	NM_013354.5	NP_037486.2	Q9UIV1	CNOT7_HUMAN	CCR4-NOT transcription complex, subunit 7	12					carbohydrate metabolic process|nuclear-transcribed mRNA poly(A) tail shortening	CCR4-NOT complex|cytoplasmic mRNA processing body|cytosol	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)	11				Colorectal(111;0.0523)|COAD - Colon adenocarcinoma(73;0.209)		AACTTCACAAATTCTTTGGCT	0.398													14	29					0	0	1	0	0	C	17102627	A	C	17102627	3	2	242	1	0	0	0	0	1	0	0	0	3647	101	4	5	852	5	CNOT7	8	17102627	Missense_Mutation	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	3745683	17102627	129261395	466	12080											
LZTS1	11178	broad.mit.edu	37	chr8	20107641	20107641	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accttctcccgcagcagctcCgcctcgttcttcttgcgctg	3	12	8	18	4	3	0	0	0	3	0	6	0	4	0	4	0	3	5	4	0	0	4	rs35939758		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:20107641C>T	ENST00000381569.1	-	4	1740	c.1383G>A	c.(1381-1383)gcG>gcA	p.A461A	LZTS1_ENST00000265801.6_Silent_p.A461A|LZTS1_ENST00000522290.1_Silent_p.A461A			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	461					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		GCAGCAGCTCCGCCTCGTTCT	0.701													61	149					0	0	1	0	0	T	20107641	C	T	20107641	2	4	242	1	0	0	0	0	0	0	0	1	9184	639	23	1		1	LZTS1	8	20107641	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	3005014	20107641	126256381	467	12081											
PIWIL2	55124	broad.mit.edu	37	chr8	22140592	22140592	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtctttattaccactgggAagagcagcaggtggtatcag	10	10	13	8	1	2	1	1	0	1	1	2	2	2	2	1	3	3	3	1	3	4	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:22140592A>G	ENST00000356766.6	+	5	619	c.471A>G	c.(469-471)ggA>ggG	p.G157G	PIWIL2_ENST00000521356.1_Silent_p.G157G|PIWIL2_ENST00000454009.2_Silent_p.G157G	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	157					DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		TACCACTGGGAAGAGCAGCAG	0.532													22	56					0	0	1	0	0	G	22140592	A	G	22140592	2	3	242	1	0	0	0	0	0	0	0	1	12006	233	9	3		3	PIWIL2	8	22140592	Silent	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	2032951	22140592	124223430	468	12082											
SORBS3	10174	broad.mit.edu	37	chr8	22415670	22415670	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagacccagagactggtaccGgagaatgttccagcagattc	12	7	11	11	1	0	4	0	0	0	4	2	6	1	4	3	2	2	3	3	2	2	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:22415670G>A	ENST00000240123.7	+	5	826	c.443G>A	c.(442-444)cGg>cAg	p.R148Q	SORBS3_ENST00000523402.1_Missense_Mutation_p.R148Q	NM_005775.4	NP_005766.3	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3	148	SoHo.				muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		GACTGGTACCGGAGAATGTTC	0.517													26	80					0	0	1	0	0	A	22415670	G	A	22415670	3	1	242	1	0	0	0	0	1	0	0	0	14983	1116	39	1	457	1	SORBS3	8	22415670	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	275078	22415670	123948352	469	12083											
KIAA1967	0	broad.mit.edu	37	chr8	22472378	22472378	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgggcaggaaagaagaggagGcagtgctggttgggggtgaa	11	6	21	3	0	0	3	0	1	0	2	0	5	0	5	0	7	1	4	0	7	3	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:22472378G>A	ENST00000308511.4	+	11	1318	c.1069G>A	c.(1069-1071)Gca>Aca	p.A357T	KIAA1967_ENST00000520861.1_Missense_Mutation_p.A32T|KIAA1967_ENST00000389279.3_Missense_Mutation_p.A357T|RP11-582J16.5_ENST00000521025.1_RNA			Q8N163	K1967_HUMAN		357					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5)	25		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		AGAAGAGGAGGCAGTGCTGGT	0.587													5	53					0	0	1	0	0	A	22472378	G	A	22472378	3	1	242	1	0	0	0	0	1	0	0	0	8307	1203	42	2	1107	2	KIAA1967	8	22472378	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	56708	22472378	123891644	470	12084											
TNFRSF10B	8795	broad.mit.edu	37	chr8	22884792	22884792	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attgtcctcagccccaggtcGttgtgagctctggaaaaaga	10	10	11	10	1	2	2	1	1	1	1	4	3	3	3	3	2	2	2	3	2	2	2	rs138183043		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:22884792G>A	ENST00000276431.4	-	7	1074	c.790C>T	c.(790-792)Cga>Tga	p.R264*	TNFRSF10B_ENST00000542226.1_Nonsense_Mutation_p.R84*|TNFRSF10B_ENST00000347739.3_Nonsense_Mutation_p.R235*	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN	tumor necrosis factor receptor superfamily, member 10b	264					activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade	plasma membrane	caspase activator activity|receptor activity|TRAIL binding			NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		GCCCCAGGTCGTTGTGAGCTC	0.567													7	70					0	0	1	0	0	A	22884792	G	A	22884792	4	1	242	1	0	0	0	0	0	1	0	0	16341	1153	40	1	544	1	TNFRSF10B	8	22884792	Nonsense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	412414	22884792	123479230	471	12085											
TMEM66	51669	broad.mit.edu	37	chr8	29921408	29921408	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actccaactttctactttatCgtctcctggtaccaccatat	9	15	3	14	1	2	0	0	0	2	0	5	0	3	0	4	1	3	1	4	1	5	6			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:29921408C>T	ENST00000256255.6	-	6	1273	c.1016G>A	c.(1015-1017)cGa>cAa	p.R339Q	TMEM66_ENST00000536273.1_Missense_Mutation_p.R167Q|TMEM66_ENST00000545648.1_Missense_Mutation_p.R167Q	NM_016127.4	NP_057211.4	Q96BY9	TMM66_HUMAN	transmembrane protein 66	339						integral to membrane				endometrium(2)|large_intestine(1)|lung(11)	14				KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)		TCTACTTTATCGTCTCCTGGT	0.313													21	41					0	0	1	0	0	T	29921408	C	T	29921408	3	4	242	1	0	0	0	0	1	0	0	0	16255	884	31	1	7	1	TMEM66	8	29921408	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	7036616	29921408	116442614	472	12086											
RAB11FIP1	80223	broad.mit.edu	37	chr8	37730604	37730604	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcagaggggacagatgcctgGccagagctagaaggaagagg	13	4	17	7	0	1	5	1	0	0	5	1	7	1	7	2	5	2	1	2	5	3	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:37730604G>A	ENST00000330843.4	-	4	1728	c.1716C>T	c.(1714-1716)ggC>ggT	p.G572G	RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000287263.4_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	572	Ser-rich.				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CAGATGCCTGGCCAGAGCTAG	0.557													29	87					0	0	1	0	0	A	37730604	G	A	37730604	2	1	242	1	0	0	0	0	0	0	0	1	12945	1190	42	2		2	RAB11FIP1	8	37730604	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	7809196	37730604	108633418	473	12087											
AGPAT6	137964	broad.mit.edu	37	chr8	41456800	41456800	+	Frame_Shift_Del	DEL	A	A	-																															gtatccgcaaactctacatgAaaagtctgttaaaaatcttt																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:41456800delA	ENST00000396987.3	+	2	1069	c.142delA	c.(142-144)aafs	p.K48fs		NM_178819.3	NP_848934.1	Q86UL3	GPAT4_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 6	48					acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	glycerol-3-phosphate O-acyltransferase activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(6)	14	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)			ACTCTACATGAAAAGTCTGTT	0.428													33	91	---	---	---	---						-	41456800	A	-	41456800	7	5	242	1	0	1	0	1	0	0	0	0	388	247	9	0	144	0	AGPAT6	8	41456800	Frame_Shift_Del	DEL	A	TCGA-KK-A59V-01A-11D-A29Q-08	3726196	41456800	104907222	474	12088											
CHRNA6	8973	broad.mit.edu	37	chr8	42611381	42611381	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgttcaacacaaacacagTcaccacgatggacagtgtga	15	8	8	10	1	2	1	2	1	0	0	2	3	2	2	1	1	2	1	1	1	3	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:42611381T>C	ENST00000276410.2	-	5	1316	c.961A>G	c.(961-963)Act>Gct	p.T321A	CHRNA6_ENST00000534622.1_Missense_Mutation_p.T306A	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	321						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)			ACAAACACAGTCACCACGATG	0.537													6	98					0	0	1	0	0	C	42611381	T	C	42611381	3	2	242	1	0	0	0	0	1	0	0	0	3409	1667	58	3	531	3	CHRNA6	8	42611381	Missense_Mutation	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	1154581	42611381	103752641	475	12089											
PRKDC	5591	broad.mit.edu	37	chr8	48744475	48744475	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtcgtagtaggtccgtcCggccggccgcacctggagag	6	6	16	13	5	0	1	0	0	0	1	3	2	2	1	5	4	0	4	5	4	2	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:48744475C>T	ENST00000314191.2	-	61	8218	c.8162G>A	c.(8161-8163)cGg>cAg	p.R2721Q	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.R2721Q	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2722	KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TAGGTCCGTCCGGCCGGCCGC	0.567								Non-homologous end-joining					7	208					0	0	1	0	0	T	48744475	C	T	48744475	3	4	242	1	0	0	0	0	1	0	0	0	12573	652	23	1	4329	1	PRKDC	8	48744475	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	6133094	48744475	97619547	476	12090											
ST18	9705	broad.mit.edu	37	chr8	53073993	53073993	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtatgagagggcgtttaccGaaaacttgggcatcaaaact	13	10	11	7	2	1	1	1	1	0	1	1	3	1	1	1	2	3	3	1	2	6	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:53073993G>A	ENST00000276480.7	-	14	2219	c.1536C>T	c.(1534-1536)ttC>ttT	p.F512F		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	512						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GGCGTTTACCGAAAACTTGGG	0.438													9	147					0	0	1	0	0	A	53073993	G	A	53073993	2	1	242	1	0	0	0	0	0	0	0	1	15268	1049	37	1		1	ST18	8	53073993	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	4329518	53073993	93290029	477	12091											
PREX2	80243	broad.mit.edu	37	chr8	69002947	69002947	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggaagtacaggcggccaacGaaggtaagtggcccttcaga	13	5	14	9	2	1	1	1	0	0	1	1	3	1	2	2	5	2	2	2	5	5	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:69002947G>A	ENST00000288368.4	+	20	2524	c.2247G>A	c.(2245-2247)acG>acA	p.T749T	RP11-403D15.2_ENST00000526901.1_RNA|PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	749	PDZ 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	p.T749T(2)|p.K750*(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GGCGGCCAACGAAGGTAAGTG	0.473													19	43					0	0	1	0	0	A	69002947	G	A	69002947	2	1	242	1	0	0	0	0	0	0	0	1	12529	1045	37	1		1	PREX2	8	69002947	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	15928954	69002947	77361075	478	12092											
EYA1	2138	broad.mit.edu	37	chr8	72211430	72211430	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagctgttataatactgtgcGtactgaccctggccaaaact	11	11	9	10	1	0	1	0	1	0	0	0	2	0	1	2	1	5	3	2	1	6	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:72211430G>A	ENST00000340726.3	-	9	1317	c.678C>T	c.(676-678)taC>taT	p.Y226Y	EYA1_ENST00000388740.3_Silent_p.Y193Y|EYA1_ENST00000388742.4_Silent_p.Y226Y|EYA1_ENST00000303824.7_Silent_p.Y220Y|EYA1_ENST00000388743.2_Silent_p.Y225Y|EYA1_ENST00000388741.2_Silent_p.Y192Y|EYA1_ENST00000419131.1_Silent_p.Y221Y	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	226					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			AATACTGTGCGTACTGACCCT	0.453													36	98					0	0	1	0	0	A	72211430	G	A	72211430	2	1	242	1	0	0	0	0	0	0	0	1	5356	1140	40	1		1	EYA1	8	72211430	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	3208483	72211430	74152592	479	12093											
ZFHX4	79776	broad.mit.edu	37	chr8	77766738	77766738	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaccaattccttcactctccGttcttggaaaggcccatgga	10	11	7	13	1	3	0	1	0	2	0	5	2	4	2	4	3	1	1	4	3	3	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:77766738G>A	ENST00000521891.2	+	10	8029	c.7581G>A	c.(7579-7581)ccG>ccA	p.P2527P	ZFHX4_ENST00000455469.2_Silent_p.P2482P|ZFHX4_ENST00000050961.6_Silent_p.P2482P|ZFHX4_ENST00000518282.1_Silent_p.P2501P	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2482						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TTCACTCTCCGTTCTTGGAAA	0.507										HNSCC(33;0.089)			8	214					0	0	1	0	0	A	77766738	G	A	77766738	2	1	242	1	0	0	0	0	0	0	0	1	17693	1132	40	1		1	ZFHX4	8	77766738	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	5555308	77766738	68597284	480	12094											
CNBD1	168975	broad.mit.edu	37	chr8	88365930	88365930	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcctttggtgagattagcGtccttcttcaagttcctttc	6	17	8	10	1	2	1	1	1	1	1	6	2	5	1	3	1	1	1	3	1	2	6			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:88365930G>A	ENST00000518476.1	+	10	1270	c.1219G>A	c.(1219-1221)Gtc>Atc	p.V407I		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	407								p.V407I(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						TGAGATTAGCGTCCTTCTTCA	0.323													19	52					0	0	1	0	0	A	88365930	G	A	88365930	3	1	242	1	0	0	0	0	1	0	0	0	3614	1145	40	1	1257	1	CNBD1	8	88365930	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	10599192	88365930	57998092	481	12095											
CDH17	1015	broad.mit.edu	37	chr8	95188892	95188892	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccactataattccattagCgtccagggctgcaacctgat	10	11	7	13	1	0	1	0	1	0	0	3	1	3	1	4	1	3	2	4	1	4	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:95188892C>T	ENST00000027335.3	-	5	425	c.301G>A	c.(301-303)Gct>Act	p.A101T	CDH17_ENST00000450165.2_Missense_Mutation_p.A101T|CDH17_ENST00000441892.2_Missense_Mutation_p.A101T	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	101	Cadherin 1.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			ATTCCATTAGCGTCCAGGGCT	0.453													23	39					0	0	1	0	0	T	95188892	C	T	95188892	3	4	242	1	0	0	0	0	1	0	0	0	3124	768	27	1	2253	1	CDH17	8	95188892	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	6822962	95188892	51175130	482	12096											
MATN2	4147	broad.mit.edu	37	chr8	98943456	98943456	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaccatgactgggctggccAtccagtatgccctgaacatc	9	8	10	14	0	0	2	0	2	0	0	2	2	1	2	4	2	2	3	4	2	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:98943456A>G	ENST00000254898.5	+	3	649	c.418A>G	c.(418-420)Atc>Gtc	p.I140V	MATN2_ENST00000524308.1_Missense_Mutation_p.I140V|MATN2_ENST00000522025.2_Intron|MATN2_ENST00000521689.1_Missense_Mutation_p.I140V|MATN2_ENST00000520016.1_Missense_Mutation_p.I140V	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	matrilin 2	140	VWFA 1.					proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			TGGGCTGGCCATCCAGTATGC	0.582													21	30					0	0	1	0	0	G	98943456	A	G	98943456	3	3	242	1	0	0	0	0	1	0	0	0	9384	217	8	3	424	3	MATN2	8	98943456	Missense_Mutation	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	3754564	98943456	47420566	483	12097											
VPS13B	157680	broad.mit.edu	37	chr8	100887781	100887781	+	Frame_Shift_Del	DEL	C	C	-																															ctgtggtggctgcagaacctCccccctccactgttaaaaca																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:100887781delC	ENST00000358544.2	+	62	12067	c.11956delC	c.(11956-11958)ccfs	p.P3987fs	VPS13B_ENST00000357162.2_Frame_Shift_Del_p.P3962fs|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3987					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)			TGCAGAACCTCCCCCCTCCAC	0.468													40	100	---	---	---	---						-	100887781	C	-	100887781	7	5	242	1	0	1	0	1	0	0	0	0	17250	855	30	0	12392	0	VPS13B	8	100887781	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	1944325	100887781	45476241	484	12098											
ZFPM2	23414	broad.mit.edu	37	chr8	106814359	106814359	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttagtggatggggaaagtgaCccaaataagactacctgtga	14	9	12	6	0	0	3	0	2	0	1	0	5	0	5	2	3	1	0	2	3	5	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:106814359C>T	ENST00000407775.2	+	8	2299	c.2049C>T	c.(2047-2049)gaC>gaT	p.D683D	RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000378472.4_Silent_p.D414D|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000517361.1_Silent_p.D551D|ZFPM2_ENST00000520492.1_Silent_p.D551D|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000522296.1_3'UTR	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	683					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GGGAAAGTGACCCAAATAAGA	0.453													3	38					0	0	1	0	0	T	106814359	C	T	106814359	2	4	242	1	0	0	0	0	0	0	0	1	17716	506	18	2		2	ZFPM2	8	106814359	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	5926578	106814359	39549663	485	12099											
EBAG9	9166	broad.mit.edu	37	chr8	110576705	110576705	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acagagaaaagagagcagccGaacaacaaaggaagaaaatg	23	1	11	6	1	0	3	0	0	0	3	0	7	0	4	1	1	4	1	1	1	8	0	rs144824501	by1000genomes	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:110576705G>A	ENST00000337573.5	+	7	859	c.559G>A	c.(559-561)Gaa>Aaa	p.E187K	EBAG9_ENST00000395785.2_Missense_Mutation_p.E187K|EBAG9_ENST00000531677.1_Missense_Mutation_p.E232K	NM_004215.3	NP_004206.1	O00559	RCAS1_HUMAN	estrogen receptor binding site associated, antigen, 9	187					apoptosis|regulation of cell growth	focal adhesion|Golgi membrane|integral to membrane|soluble fraction	apoptotic protease activator activity	p.E187K(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10			OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)			GAGAGCAGCCGAACAACAAAG	0.333													28	72					0	0	1	0	0	A	110576705	G	A	110576705	3	1	242	1	0	0	0	0	1	0	0	0	4905	1059	37	1	581	1	EBAG9	8	110576705	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	3762346	110576705	35787317	486	12100											
TRPS1	7227	broad.mit.edu	37	chr8	116426269	116426270	+	Frame_Shift_Ins	INS	-	-	T																															tttactctttaggttttccaINStttttttccacttgtgcatt																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:116426269_116426270insT	ENST00000395715.3	-	7	4443_4444	c.3866_3867insA	c.(3865-3867)aggfs	p.R1289fs	TRPS1_ENST00000519076.1_Frame_Shift_Ins_p.R1030fs|TRPS1_ENST00000220888.5_Frame_Shift_Ins_p.R1276fs|TRPS1_ENST00000520276.1_Frame_Shift_Ins_p.R1280fs	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	1276					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.N1289fs*>6(1)|p.N1276fs*>6(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TAGGTTTTCCATTTTTTTCCAC	0.381									Langer-Giedion syndrome				38	110	---	---	---	---						T	116426270	-	T	116426269	7	5	242	1	0	1	1	0	0	0	0	0	16654	214	8	0	21	0	TRPS1	8	116426269	Frame_Shift_Ins	INS	-	TCGA-KK-A59V-01A-11D-A29Q-08	5849564	116426269	29937753	487	12101											
COL14A1	7373	broad.mit.edu	37	chr8	121216025	121216025	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcatgtgtacaatgttgccGaattcgatctgatgcacaca	11	12	8	10	2	2	1	1	1	1	0	3	3	2	1	1	0	3	3	1	0	3	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:121216025G>A	ENST00000297848.3	+	9	1225	c.955G>A	c.(955-957)Gaa>Aaa	p.E319K	COL14A1_ENST00000247781.3_Missense_Mutation_p.E224K|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000537875.1_Missense_Mutation_p.E319K|COL14A1_ENST00000309791.4_Missense_Mutation_p.E319K	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	319	VWFA 1.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CAATGTTGCCGAATTCGATCT	0.468													16	43					0	0	1	0	0	A	121216025	G	A	121216025	3	1	242	1	0	0	0	0	1	0	0	0	3694	1059	37	1	985	1	COL14A1	8	121216025	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	4789756	121216025	25147997	488	12102											
MTBP	27085	broad.mit.edu	37	chr8	121528318	121528318	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccatctcctgtagtttcGtcagatcctggaagtgtccc	6	14	8	13	1	2	1	1	0	1	1	7	2	5	2	4	1	0	2	4	1	2	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:121528318G>A	ENST00000305949.1	+	18	2178	c.2133G>A	c.(2131-2133)tcG>tcA	p.S711S		NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	711	Interaction with MDM2 (By similarity).				cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			CTGTAGTTTCGTCAGATCCTG	0.423													5	121					0	0	1	0	0	A	121528318	G	A	121528318	2	1	242	1	0	0	0	0	0	0	0	1	9960	1132	40	1		1	MTBP	8	121528318	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	312293	121528318	24835704	489	12103											
KCNQ3	3786	broad.mit.edu	37	chr8	133196530	133196530	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaaacttcagtcggccccGccagcctttgtatcggcagc	7	8	11	15	3	1	0	1	0	0	0	3	0	1	0	4	3	3	3	4	3	2	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:133196530G>A	ENST00000388996.4	-	3	982	c.562C>T	c.(562-564)Cgg>Tgg	p.R188W	KCNQ3_ENST00000519445.1_Missense_Mutation_p.R188W|KCNQ3_ENST00000521134.1_Missense_Mutation_p.R68W	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	188					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R188W(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			AGTCGGCCCCGCCAGCCTTTG	0.537													40	115					0	0	1	0	0	A	133196530	G	A	133196530	3	1	242	1	0	0	0	0	1	0	0	0	8128	1086	38	1	2108	1	KCNQ3	8	133196530	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	11668212	133196530	13167492	490	12104											
COL22A1	169044	broad.mit.edu	37	chr8	139890023	139890023	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acggcgccgcagcttgccccGgatcttgtcgatggcattga	6	9	13	13	5	1	1	0	1	1	0	2	3	1	2	3	3	2	3	3	3	0	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:139890023G>A	ENST00000303045.6	-	3	1074	c.628C>T	c.(628-630)Cgg>Tgg	p.R210W	COL22A1_ENST00000435777.1_Missense_Mutation_p.R210W	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	210	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			AGCTTGCCCCGGATCTTGTCG	0.667										HNSCC(7;0.00092)			18	51					0	0	1	0	0	A	139890023	G	A	139890023	3	1	242	1	0	0	0	0	1	0	0	0	3704	1115	39	1	4504	1	COL22A1	8	139890023	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	6693493	139890023	6473999	491	12105											
TRAPPC9	83696	broad.mit.edu	37	chr8	141321377	141321377	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagcttggtgaagggcaccGgtggcagggtgaggccgcca	8	5	19	9	2	0	2	0	2	0	0	0	3	0	2	3	6	1	3	3	6	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:141321377G>A	ENST00000389328.4	-	10	1900	c.1886C>T	c.(1885-1887)cCg>cTg	p.P629L	TRAPPC9_ENST00000389327.3_Missense_Mutation_p.P522L|TRAPPC9_ENST00000438773.2_Missense_Mutation_p.P531L	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	531					cell differentiation	endoplasmic reticulum|Golgi apparatus				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						GAAGGGCACCGGTGGCAGGGT	0.587													23	53					0	0	1	0	0	A	141321377	G	A	141321377	3	1	242	1	0	0	0	0	1	0	0	0	16526	1116	39	1	1910	1	TRAPPC9	8	141321377	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1431354	141321377	5042645	492	12106											
PTK2	5747	broad.mit.edu	37	chr8	141745435	141745435	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cataaggctgtagagggtagGaggacaatttggaggcattg	12	9	16	4	0	0	1	0	0	0	1	0	4	0	4	0	6	0	4	0	6	4	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:141745435G>A	ENST00000522684.1	-	22	2174	c.1945C>T	c.(1945-1947)Cct>Tct	p.P649S	PTK2_ENST00000521059.1_Missense_Mutation_p.P649S|PTK2_ENST00000395218.2_Missense_Mutation_p.P649S|PTK2_ENST00000340930.3_Missense_Mutation_p.P649S|PTK2_ENST00000538769.1_Missense_Mutation_p.P317S|PTK2_ENST00000535192.1_Missense_Mutation_p.P649S|PTK2_ENST00000519419.1_Missense_Mutation_p.P693S|PTK2_ENST00000517887.1_Missense_Mutation_p.P693S|PTK2_ENST00000519465.1_Missense_Mutation_p.P277S	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	649	Protein kinase.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TAGAGGGTAGGAGGACAATTT	0.488													18	44					0	0	1	0	0	A	141745435	G	A	141745435	3	1	242	1	0	0	0	0	1	0	0	0	12812	1174	41	2	1257	2	PTK2	8	141745435	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	424058	141745435	4618587	493	12107											
SLC45A4	57210	broad.mit.edu	37	chr8	142222365	142222365	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcagcacggtgggcttttcGctgttcccaccggccctgcc	3	11	11	16	3	1	0	1	0	0	0	3	0	2	0	4	3	2	4	4	3	0	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:142222365G>A	ENST00000519067.1	-	7	2382	c.2079C>T	c.(2077-2079)agC>agT	p.S693S	SLC45A4_ENST00000024061.3_Silent_p.S693S|SLC45A4_ENST00000433583.2_Silent_p.S686S|SLC45A4_ENST00000517878.1_Silent_p.S744S			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	744					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TGGGCTTTTCGCTGTTCCCAC	0.622													10	22					0	0	1	0	0	A	142222365	G	A	142222365	2	1	242	1	0	0	0	0	0	0	0	1	14698	1078	38	1		1	SLC45A4	8	142222365	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	476930	142222365	4141657	494	12108											
FAM83H	286077	broad.mit.edu	37	chr8	144812678	144812679	+	Frame_Shift_Del	DEL	TT	TT	-																															accgccaggcggtagtactcTttgtagtgaggcggcaggta																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:144812678_144812679delTT	ENST00000388913.3	-	2	199_200	c.74_75delAA	c.(73-75)afs	p.K25fs		NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	25					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GGTAGTACTCTTTGTAGTGAGG	0.683													18	42	---	---	---	---						-	144812679	TT	-	144812678	7	5	242	1	0	1	0	1	0	0	0	0	5672	1606	56	0	3480	0	FAM83H	8	144812678	Frame_Shift_Del	DEL	TT	TCGA-KK-A59V-01A-11D-A29Q-08	2590313	144812678	1551344	495	12109											
PLEC	5339	broad.mit.edu	37	chr8	144993838	144993838	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctccagcaggagcgcagccGttgtggctctcagcaggccc	6	6	13	16	2	1	0	1	0	1	0	3	1	2	1	4	3	4	5	4	3	0	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:144993838G>A	ENST00000322810.4	-	32	10731	c.10562C>T	c.(10561-10563)aCg>aTg	p.T3521M	PLEC_ENST00000356346.3_Missense_Mutation_p.T3370M|PLEC_ENST00000398774.2_Missense_Mutation_p.T3352M|PLEC_ENST00000354589.3_Missense_Mutation_p.T3384M|PLEC_ENST00000527096.1_Missense_Mutation_p.T3407M|PLEC_ENST00000357649.2_Missense_Mutation_p.T3388M|PLEC_ENST00000345136.3_Missense_Mutation_p.T3384M|PLEC_ENST00000354958.2_Missense_Mutation_p.T3362M|PLEC_ENST00000436759.2_Missense_Mutation_p.T3411M	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3521	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GAGCGCAGCCGTTGTGGCTCT	0.687													13	35					0	0	1	0	0	A	144993838	G	A	144993838	3	1	242	1	0	0	0	0	1	0	0	0	12100	1145	40	1	3496	1	PLEC	8	144993838	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	181160	144993838	1370184	496	12110											
PLEC	5339	broad.mit.edu	37	chr8	145001706	145001706	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcactctcgcggtagtaacGcagctggcggcccagttgct	6	9	13	13	4	1	0	0	0	1	0	2	0	1	0	1	3	4	7	1	3	2	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:145001706G>A	ENST00000322810.4	-	27	4208	c.4039C>T	c.(4039-4041)Cgt>Tgt	p.R1347C	PLEC_ENST00000356346.3_Missense_Mutation_p.R1196C|PLEC_ENST00000398774.2_Missense_Mutation_p.R1178C|PLEC_ENST00000354589.3_Missense_Mutation_p.R1210C|PLEC_ENST00000527096.1_Missense_Mutation_p.R1233C|PLEC_ENST00000357649.2_Missense_Mutation_p.R1214C|PLEC_ENST00000345136.3_Missense_Mutation_p.R1210C|PLEC_ENST00000354958.2_Missense_Mutation_p.R1188C|PLEC_ENST00000436759.2_Missense_Mutation_p.R1237C	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1347	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGGTAGTAACGCAGCTGGCGG	0.721													8	25					0	0	1	0	0	A	145001706	G	A	145001706	3	1	242	1	0	0	0	0	1	0	0	0	12100	1087	38	1	10039	1	PLEC	8	145001706	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	7868	145001706	1362316	497	12111											
RECQL4	9401	broad.mit.edu	37	chr8	145742551	145742551	+	Frame_Shift_Del	DEL	C	C	-																															gcagcccgattcagatggggCccccagcagcggggctctgg																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr8:145742551delC	ENST00000428558.2	-	4	278	c.237delG	c.(235-237)ggfs	p.G79fs	RECQL4_ENST00000532237.1_5'UTR	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4	79					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TCAGATGGGGCCCCCAGCAGC	0.692			"N, F, S"			"osteosarcoma, skin basal and sqamous cell"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				7	26	---	---	---	---						-	145742551	C	-	145742551	7	5	242	1	0	1	0	1	0	0	0	0	13254	726	26	0	3462	0	RECQL4	8	145742551	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	740845	145742551	621471	498	12112											
SMARCA2	6595	broad.mit.edu	37	chr9	2119528	2119528	+	Frame_Shift_Del	DEL	T	T	-																															acgagaagaagaatttgaccTttttatggtaatgttacaga																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:2119528delT	ENST00000382203.1	+	26	3964	c.3755delT	c.(3754-3756)ctfs	p.L1252fs	SMARCA2_ENST00000357248.2_Frame_Shift_Del_p.L1252fs|SMARCA2_ENST00000382194.1_Frame_Shift_Del_p.L1252fs|SMARCA2_ENST00000349721.2_Frame_Shift_Del_p.L1252fs			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1252					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		GAATTTGACCTTTTTATGGTA	0.413													15	36	---	---	---	---						-	2119528	T	-	2119528	7	5	242	1	0	1	0	1	0	0	0	0	14823	1609	56	0	3853	0	SMARCA2	9	2119528	Frame_Shift_Del	DEL	T	TCGA-KK-A59V-01A-11D-A29Q-08		2119528	139093903	499	12113											
KIAA1432	57589	broad.mit.edu	37	chr9	5763494	5763494	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctttctgtgttgtggagagaAcctctcagatctacctccac	8	13	8	12	0	3	2	1	0	3	2	5	4	4	3	3	1	2	1	3	1	2	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:5763494A>G	ENST00000414202.2	+	19	2658	c.2467A>G	c.(2467-2469)Acc>Gcc	p.T823A	KIAA1432_ENST00000418622.3_Missense_Mutation_p.T744A|KIAA1432_ENST00000251879.6_Missense_Mutation_p.T823A|KIAA1432_ENST00000381532.2_Missense_Mutation_p.T744A|KIAA1432_ENST00000449720.2_Missense_Mutation_p.T707A	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	823						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		TGTGGAGAGAACCTCTCAGAT	0.478													5	99					0	0	1	0	0	G	5763494	A	G	5763494	3	3	242	1	0	0	0	0	1	0	0	0	8275	43	2	3	2300	3	KIAA1432	9	5763494	Missense_Mutation	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	3643966	5763494	135449937	500	12114											
TPD52L3	89882	broad.mit.edu	37	chr9	6328900	6328900	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agctgctctgtccaccatggGcactctcatctgcaggaagc	8	9	10	14	0	3	0	1	0	3	0	5	1	4	1	2	2	4	4	2	2	1	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:6328900G>A	ENST00000344545.5	+	1	552	c.305G>A	c.(304-306)gGc>gAc	p.G102D	TPD52L3_ENST00000314556.3_Missense_Mutation_p.G102D|TPD52L3_ENST00000381428.1_Missense_Mutation_p.G102D	NM_033516.5	NP_277051.3	Q96J77	TPD55_HUMAN	tumor protein D52-like 3	102							protein binding			large_intestine(1)|lung(9)|skin(1)	11		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1)		TCCACCATGGGCACTCTCATC	0.512													20	107					0	0	1	0	0	A	6328900	G	A	6328900	3	1	242	1	0	0	0	0	1	0	0	0	16461	1203	42	2	307	2	TPD52L3	9	6328900	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	565406	6328900	134884531	501	12115											
PTPRD	5789	broad.mit.edu	37	chr9	8449746	8449746	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtgtttgaaagttaaggcGcctcagttctacagggtctg	8	12	13	8	2	3	1	1	1	2	0	3	1	3	1	1	3	1	3	1	3	3	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:8449746G>A	ENST00000381196.4	-	31	4510	c.3967C>T	c.(3967-3969)Cgc>Tgc	p.R1323C	PTPRD_ENST00000540109.1_Missense_Mutation_p.R1323C|PTPRD_ENST00000360074.4_Missense_Mutation_p.R1310C|PTPRD_ENST00000537002.1_Missense_Mutation_p.R913C|PTPRD_ENST00000358503.5_Missense_Mutation_p.R1301C|PTPRD_ENST00000486161.1_Missense_Mutation_p.R916C|PTPRD_ENST00000356435.5_Missense_Mutation_p.R1323C|PTPRD_ENST00000355233.5_Missense_Mutation_p.R917C|PTPRD_ENST00000397606.3_Missense_Mutation_p.R902C|PTPRD_ENST00000397611.3_Missense_Mutation_p.R913C|PTPRD_ENST00000397617.3_Missense_Mutation_p.R902C	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1323					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.R794C(1)|p.R1323C(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AAGTTAAGGCGCCTCAGTTCT	0.463										TSP Lung(15;0.13)			26	117					0	0	1	0	0	A	8449746	G	A	8449746	3	1	242	1	0	0	0	0	1	0	0	0	12851	1087	38	1	1869	1	PTPRD	9	8449746	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	2120846	8449746	132763685	502	12116											
PTPRD	5789	broad.mit.edu	37	chr9	8524957	8524957	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aattggcaggagcggaatagCgagtgcccgcgctgttggtg	8	8	17	8	4	0	0	0	0	0	0	0	3	0	2	1	4	3	3	1	4	3	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:8524957C>T	ENST00000381196.4	-	15	1190	c.647G>A	c.(646-648)cGc>cAc	p.R216H	PTPRD_ENST00000540109.1_Missense_Mutation_p.R216H|PTPRD_ENST00000360074.4_Missense_Mutation_p.R207H|PTPRD_ENST00000537002.1_Missense_Mutation_p.R213H|PTPRD_ENST00000358503.5_Missense_Mutation_p.R207H|PTPRD_ENST00000486161.1_Missense_Mutation_p.R216H|PTPRD_ENST00000356435.5_Missense_Mutation_p.R216H|PTPRD_ENST00000355233.5_Missense_Mutation_p.R216H|PTPRD_ENST00000397606.3_Missense_Mutation_p.R210H|PTPRD_ENST00000397611.3_Missense_Mutation_p.R213H|PTPRD_ENST00000397617.3_Missense_Mutation_p.R210H	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	216	Ig-like C2-type 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		agcggaatagcGAGTGCCCGC	0.488										TSP Lung(15;0.13)			8	170					0	0	1	0	0	T	8524957	C	T	8524957	3	4	242	1	0	0	0	0	1	0	0	0	12851	768	27	1	5275	1	PTPRD	9	8524957	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	75211	8524957	132688474	503	12117											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18622252	18622252	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttgttagattgttggctgCgatcaccagctgggaagcac	8	12	12	9	1	2	1	1	0	1	1	2	3	2	2	1	2	3	5	1	2	2	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:18622252C>T	ENST00000380548.4	+	5	825	c.486C>T	c.(484-486)tgC>tgT	p.C162C	ADAMTSL1_ENST00000276935.6_Silent_p.C162C|ADAMTSL1_ENST00000327883.7_Silent_p.C162C|ADAMTSL1_ENST00000380570.4_Silent_p.C162C|ADAMTSL1_ENST00000380566.4_Silent_p.C162C	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	162						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TTGTTGGCTGCGATCACCAGC	0.512													6	68					0	0	1	0	0	T	18622252	C	T	18622252	2	4	242	1	0	0	0	0	0	0	0	1	273	776	27	1		1	ADAMTSL1	9	18622252	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	10097295	18622252	122591179	504	12118											
C9orf24	84688	broad.mit.edu	37	chr9	34381368	34381368	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccactaccactctttaccGtaggcattgagccgctccgg	7	9	8	17	3	1	1	0	1	1	0	2	1	2	1	6	2	3	3	6	2	3	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:34381368G>A	ENST00000297623.2	-	4	669	c.472_splice	c.e4+1	p.Y157_splice	C9orf24_ENST00000379133.3_Splice_Site_p.Y22_splice|C9orf24_ENST00000379127.1_Splice_Site_p.Y22_splice|C9orf24_ENST00000379124.1_Splice_Site_p.Y22_splice|C9orf24_ENST00000379126.3_Splice_Site_p.Y22_splice	NM_032596.3	NP_115985.2	Q8NCR6	CI024_HUMAN	chromosome 9 open reading frame 24	157										endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.123)		ACTCTTTACCGTAGGCATTGA	0.627													55	135					0	0	1	0	0	A	34381368	G	A	34381368	5	1	242	1	0	0	0	0	0	0	1	0	2493	1159	40	1	439	1	C9orf24	9	34381368	Splice_Site	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	15759116	34381368	106832063	505	12119											
DNAI1	27019	broad.mit.edu	37	chr9	34517405	34517405	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccccatcatcattgtgggCgatgaccgtgggcacatcat	9	9	10	13	2	3	1	3	1	0	0	3	2	3	1	3	2	0	1	3	2	0	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:34517405C>T	ENST00000242317.4	+	19	2112	c.1941C>T	c.(1939-1941)ggC>ggT	p.G647G		NM_012144.2	NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	647					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		TCATTGTGGGCGATGACCGTG	0.532									Kartagener syndrome				13	37					0	0	1	0	0	T	34517405	C	T	34517405	2	4	242	1	0	0	0	0	0	0	0	1	4636	755	27	1		1	DNAI1	9	34517405	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	136037	34517405	106696026	506	12120											
SPAG8	26206	broad.mit.edu	37	chr9	35809979	35809979	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaccacccagccttcctcCgggacagggaagggaagata	11	5	11	14	1	0	1	0	0	0	1	3	4	3	4	6	3	1	0	6	3	3	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:35809979C>T	ENST00000484764.1	-	7	1430	c.1390G>A	c.(1390-1392)Gga>Aga	p.G464R	SPAG8_ENST00000396638.2_Missense_Mutation_p.G472R|SPAG8_ENST00000340291.2_Intron|SPAG8_ENST00000479751.1_5'UTR			Q99932	SPAG8_HUMAN	sperm associated antigen 8	99						acrosomal vesicle|membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			AGCCTTCCTCCGGGACAGGGA	0.507													59	165					0	0	1	0	0	T	35809979	C	T	35809979	3	4	242	1	0	0	0	0	1	0	0	0	15040	661	23	1	298	1	SPAG8	9	35809979	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1292574	35809979	105403452	507	12121											
CLTA	1211	broad.mit.edu	37	chr9	36211633	36211633	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctttgtaaatgacattgaCgagtcgtccccaggcactga	10	10	10	11	2	0	3	0	3	0	0	2	4	1	3	3	1	0	2	3	1	2	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:36211633C>T	ENST00000433436.2	+	7	810	c.609C>T	c.(607-609)gaC>gaT	p.D203D	CLTA_ENST00000466396.1_Silent_p.D151D|CLTA_ENST00000242285.6_Silent_p.D203D|CLTA_ENST00000538225.1_Silent_p.D185D|CLTA_ENST00000345519.5_Silent_p.D173D|CLTA_ENST00000470744.1_Silent_p.D185D|CLTA_ENST00000396603.2_Silent_p.D191D|CLTA_ENST00000540080.1_Silent_p.D121D	NM_007096.3	NP_009027.1	P09496	CLCA_HUMAN	clathrin, light chain A	203					axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol	structural molecule activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	6			STAD - Stomach adenocarcinoma(86;0.228)			ATGACATTGACGAGTCGTCCC	0.537													40	125					0	0	1	0	0	T	36211633	C	T	36211633	2	4	242	1	0	0	0	0	0	0	0	1	3587	535	19	1		1	CLTA	9	36211633	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	401654	36211633	105001798	508	12122											
TJP2	9414	broad.mit.edu	37	chr9	71861684	71861684	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagcatcagcaaggagaagCggtttgggtctctgaaggaa	12	8	14	7	1	3	2	2	1	1	1	4	4	3	3	0	4	3	3	0	4	4	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:71861684C>T	ENST00000377245.4	+	18	2853	c.2645C>T	c.(2644-2646)gCg>gTg	p.A882V	TJP2_ENST00000535702.1_Missense_Mutation_p.A886V|TJP2_ENST00000498204.1_3'UTR|TJP2_ENST00000453658.2_Missense_Mutation_p.A859V|TJP2_ENST00000265384.7_Missense_Mutation_p.A882V|TJP2_ENST00000539225.1_Missense_Mutation_p.A913V|TJP2_ENST00000348208.4_Missense_Mutation_p.A882V	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	882					cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						CAAGGAGAAGCGGTTTGGGTC	0.418													18	69					0	0	1	0	0	T	71861684	C	T	71861684	3	4	242	1	0	0	0	0	1	0	0	0	15990	768	27	1	2872	1	TJP2	9	71861684	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	35650051	71861684	69351747	509	12123											
TRPM3	80036	broad.mit.edu	37	chr9	73152135	73152135	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcgtccgtgcagtctgaCgaggtcctcgagcggatttt	5	10	15	11	6	1	1	0	1	1	0	4	4	3	2	2	3	2	1	2	3	0	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:73152135C>T	ENST00000377110.2	-	25	4101	c.3858G>A	c.(3856-3858)tcG>tcA	p.S1286S	TRPM3_ENST00000396285.1_Silent_p.S1145S|TRPM3_ENST00000377111.2_Silent_p.S1286S|TRPM3_ENST00000396292.4_Silent_p.S1158S|TRPM3_ENST00000377106.1_Silent_p.S1158S|TRPM3_ENST00000377105.1_Silent_p.S1145S|TRPM3_ENST00000357533.2_Silent_p.S1290S|TRPM3_ENST00000360823.2_Silent_p.S1148S|TRPM3_ENST00000423814.3_Silent_p.S1313S|TRPM3_ENST00000408909.2_Silent_p.S1145S|TRPM3_ENST00000396280.5_Silent_p.S1135S|TRPM3_ENST00000358082.3_Silent_p.S1148S	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1311						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TGCAGTCTGACGAGGTCCTCG	0.612													42	92					0	0	1	0	0	T	73152135	C	T	73152135	2	4	242	1	0	0	0	0	0	0	0	1	16648	523	19	1		1	TRPM3	9	73152135	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1290451	73152135	68061296	510	12124											
TRPM6	140803	broad.mit.edu	37	chr9	77442715	77442715	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtgtattttctgcagagAgaggtacttctccaggttcc	8	13	11	9	0	2	2	0	0	2	2	4	3	3	2	2	2	2	5	2	2	2	6			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:77442715A>G	ENST00000451710.3	-	7	1057	c.820T>C	c.(820-822)Tct>Cct	p.S274P	TRPM6_ENST00000360774.1_Missense_Mutation_p.S274P|TRPM6_ENST00000361255.3_Missense_Mutation_p.S269P|TRPM6_ENST00000483186.1_5'UTR|TRPM6_ENST00000376872.3_Missense_Mutation_p.S274P|TRPM6_ENST00000376864.4_Missense_Mutation_p.S274P|TRPM6_ENST00000449912.2_Missense_Mutation_p.S269P|TRPM6_ENST00000359047.2_Missense_Mutation_p.S274P|TRPM6_ENST00000376871.3_Missense_Mutation_p.S274P			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	274					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TTCTGCAGAGAGAGGTACTTC	0.512													21	67					0	0	1	0	0	G	77442715	A	G	77442715	3	3	242	1	0	0	0	0	1	0	0	0	16651	304	11	3	5380	3	TRPM6	9	77442715	Missense_Mutation	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	4290580	77442715	63770716	511	12125											
PCSK5	5125	broad.mit.edu	37	chr9	78686713	78686713	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagcttcaacccccagcacGtgcacatttacagcgccagc	10	8	7	16	2	1	0	1	0	0	0	1	0	1	0	3	0	7	3	3	0	3	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:78686713G>A	ENST00000545128.1	+	7	1331	c.793G>A	c.(793-795)Gtg>Atg	p.V265M	PCSK5_ENST00000376767.3_Missense_Mutation_p.V265M|PCSK5_ENST00000376752.4_Missense_Mutation_p.V265M	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	265	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CCCCCAGCACGTGCACATTTA	0.542													5	232					0	0	1	0	0	A	78686713	G	A	78686713	3	1	242	1	0	0	0	0	1	0	0	0	11650	1145	40	1	819	1	PCSK5	9	78686713	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1243998	78686713	62526718	512	12126											
KIF27	55582	broad.mit.edu	37	chr9	86465140	86465140	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcacgaaccatattatcccGttccagaactttcattttca	11	15	3	12	2	3	1	3	0	0	1	5	2	5	1	3	0	2	1	3	0	4	7			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:86465140G>A	ENST00000297814.2	-	16	3573	c.3430C>T	c.(3430-3432)Cgg>Tgg	p.R1144W	RP11-575L7.4_ENST00000586206.1_RNA|RP11-575L7.4_ENST00000589817.1_RNA|KIF27_ENST00000334204.2_Missense_Mutation_p.R1047W|RP11-575L7.4_ENST00000590368.1_RNA|KIF27_ENST00000413982.1_Missense_Mutation_p.R1078W|RP11-575L7.4_ENST00000590813.1_RNA|RP11-575L7.4_ENST00000591217.1_RNA	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	1144					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						ATATTATCCCGTTCCAGAACT	0.383													32	69					0	0	1	0	0	A	86465140	G	A	86465140	3	1	242	1	0	0	0	0	1	0	0	0	8338	1144	40	1	787	1	KIF27	9	86465140	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	7778427	86465140	54748291	513	12127											
NOL8	55035	broad.mit.edu	37	chr9	95078067	95078067	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagaagtcttaaaaggtagAtttttaagtttctgagtatc	13	15	8	5	0	2	3	0	1	2	2	3	3	2	3	1	1	0	3	1	1	6	7			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:95078067A>T	ENST00000545558.1	-	7	1332	c.840T>A	c.(838-840)aaT>aaA	p.N280K	NOL8_ENST00000442668.2_Missense_Mutation_p.N280K|NOL8_ENST00000535387.1_Missense_Mutation_p.N280K|NOL8_ENST00000358855.4_Missense_Mutation_p.N212K|NOL8_ENST00000542053.1_Missense_Mutation_p.N212K			Q76FK4	NOL8_HUMAN	nucleolar protein 8	280					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						TAAAAGGTAGATTTTTAAGTT	0.373													10	31					0	0	1	0	0	T	95078067	A	T	95078067	3	4	242	1	0	0	0	0	1	0	0	0	10574	330	12	5	2707	5	NOL8	9	95078067	Missense_Mutation	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	8612927	95078067	46135364	514	12128											
FGD3	89846	broad.mit.edu	37	chr9	95766401	95766401	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgctgccggagctgaagaCgcggatcacggaggagtggt	8	6	17	10	4	1	2	1	1	0	1	1	6	1	6	2	5	3	2	2	5	1	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:95766401C>T	ENST00000375482.3	+	5	1158	c.662C>T	c.(661-663)aCg>aTg	p.T221M	FGD3_ENST00000337352.6_Missense_Mutation_p.T221M|FGD3_ENST00000416701.2_Missense_Mutation_p.T221M	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	221	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						GAGCTGAAGACGCGGATCACG	0.587											OREG0019318	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	83					0	0	1	0	0	T	95766401	C	T	95766401	3	4	242	1	0	0	0	0	1	0	0	0	5867	536	19	1	672	1	FGD3	9	95766401	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	688334	95766401	45447030	515	12129											
ANKS6	203286	broad.mit.edu	37	chr9	101552591	101552591	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcccacggtccgggctgcGtggttggggtccgcgcccca	3	6	16	16	5	0	0	0	0	0	0	2	0	2	0	5	5	2	2	5	5	0	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:101552591G>A	ENST00000353234.4	-	2	704	c.657C>T	c.(655-657)caC>caT	p.H219H	ANKS6_ENST00000375019.2_Intron|ANKS6_ENST00000375018.1_Silent_p.H219H|ANKS6_ENST00000540940.1_Silent_p.H24H|ANKS6_ENST00000471846.1_5'UTR			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	219										endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TCCGGGCTGCGTGGTTGGGGT	0.692													4	87					0	0	1	0	0	A	101552591	G	A	101552591	2	1	242	1	0	0	0	0	0	0	0	1	686	1136	40	1		1	ANKS6	9	101552591	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	5786190	101552591	39660840	516	12130											
ABCA1	19	broad.mit.edu	37	chr9	107602600	107602600	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttcagcatcttcctcagtGccattgcctccaaagagggc	8	11	9	13	0	3	1	2	0	1	1	5	1	5	1	4	1	3	2	4	1	1	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:107602600G>A	ENST00000374736.3	-	9	1408	c.1014C>T	c.(1012-1014)ggC>ggT	p.G338G		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	338					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CTTCCTCAGTGCCATTGCCTC	0.542													6	72					0	0	1	0	0	A	107602600	G	A	107602600	2	1	242	1	0	0	0	0	0	0	0	1	28	1306	46	2		2	ABCA1	9	107602600	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	6050009	107602600	33610831	517	12131											
FKTN	2218	broad.mit.edu	37	chr9	108382270	108382270	+	Frame_Shift_Del	DEL	T	T	-																															agatgatgtaaaacttgatgTttttttcttctatgaagaaa																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:108382270delT	ENST00000223528.2	+	9	1224	c.1100delT	c.(1099-1101)gtfs	p.V367fs	FKTN_ENST00000602661.1_Frame_Shift_Del_p.V367fs|FKTN_ENST00000448551.2_Frame_Shift_Del_p.V367fs|FKTN_ENST00000357998.5_Frame_Shift_Del_p.V367fs|FKTN_ENST00000540160.1_Intron	NM_006731.2	NP_006722.2	O75072	FKTN_HUMAN	fukutin	367					muscle organ development|negative regulation of cell proliferation|negative regulation of JNK cascade|nervous system development|regulation of protein glycosylation	cis-Golgi network|endoplasmic reticulum|extracellular space|Golgi membrane|integral to membrane|nucleus	transferase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						AAACTTGATGTTTTTTTCTTC	0.348													18	23	---	---	---	---						-	108382270	T	-	108382270	7	5	242	1	0	1	0	1	0	0	0	0	5952	1725	60	0	1130	0	FKTN	9	108382270	Frame_Shift_Del	DEL	T	TCGA-KK-A59V-01A-11D-A29Q-08	779670	108382270	32831161	518	12132											
ZNF462	58499	broad.mit.edu	37	chr9	109687842	109687842	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagccaccaccaccgccgcCgccaccaccaccatcacagc	10	1	6	24	3	1	0	1	0	0	0	1	0	1	0	10	0	2	1	10	0	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:109687842C>T	ENST00000277225.5	+	3	1938	c.1649C>T	c.(1648-1650)cCg>cTg	p.P550L	ZNF462_ENST00000457913.1_Missense_Mutation_p.P550L			Q96JM2	ZN462_HUMAN	zinc finger protein 462	550					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						ccaccgccgccgccaccacca	0.602													8	28					0	0	1	0	0	T	109687842	C	T	109687842	3	4	242	1	0	0	0	0	1	0	0	0	17983	652	23	1	1655	1	ZNF462	9	109687842	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1305572	109687842	31525589	519	12133											
CTNNAL1	8727	broad.mit.edu	37	chr9	111741628	111741628	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagttgacagttccaagatgCgttctctgtgctcatggctg	7	13	12	9	1	2	2	1	1	1	1	4	3	3	2	1	1	2	5	1	1	1	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:111741628C>T	ENST00000374595.4	-	7	1113	c.1034G>A	c.(1033-1035)cGc>cAc	p.R345H	CTNNAL1_ENST00000325551.4_Missense_Mutation_p.R345H|CTNNAL1_ENST00000325580.6_Missense_Mutation_p.R345H			Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	345					cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		TTCCAAGATGCGTTCTCTGTG	0.413													20	43					0	0	1	0	0	T	111741628	C	T	111741628	3	4	242	1	0	0	0	0	1	0	0	0	4039	768	27	1	1222	1	CTNNAL1	9	111741628	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	2053786	111741628	29471803	520	12134											
MUSK	4593	broad.mit.edu	37	chr9	113547964	113547964	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgaatatgtgagagacatcGgagagggagcgtttggaagg	12	9	17	3	2	0	4	0	2	0	2	1	8	0	6	0	4	1	1	0	4	3	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:113547964G>A	ENST00000416899.2	+	11	1846	c.1720G>A	c.(1720-1722)Gga>Aga	p.G574R	MUSK_ENST00000374448.4_Missense_Mutation_p.G582R|MUSK_ENST00000374438.1_Missense_Mutation_p.G98R|MUSK_ENST00000189978.5_Missense_Mutation_p.G582R			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	582					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						GAGAGACATCGGAGAGGGAGC	0.428													9	104					0	0	1	0	0	A	113547964	G	A	113547964	3	1	242	1	0	0	0	0	1	0	0	0	10037	1117	39	1	1826	1	MUSK	9	113547964	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1806336	113547964	27665467	521	12135											
ZFP37	7539	broad.mit.edu	37	chr9	115806153	115806154	+	Frame_Shift_Ins	INS	-	-	T																															tgacagcataatttgtcatgINSttttttgccagttttgttac																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:115806153_115806154insT	ENST00000374227.3	-	4	771_772	c.744_745insA	c.(742-747)aaatgafs	p.*249fs	ZFP37_ENST00000553380.1_Frame_Shift_Ins_p.*264fs|ZFP37_ENST00000555206.1_Frame_Shift_Ins_p.*250fs			Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	249						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.K248K(1)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						AATTTGTCATGTTTTTTGCCAG	0.361													21	161	---	---	---	---						T	115806154	-	T	115806153	7	5	242	1	0	1	1	0	0	0	0	0	17706	1377	48	0	1151	0	ZFP37	9	115806153	Frame_Shift_Ins	INS	-	TCGA-KK-A59V-01A-11D-A29Q-08	2258189	115806153	25407278	522	12136											
AKNA	80709	broad.mit.edu	37	chr9	117103926	117103926	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtccggggggtgggcgtggCgacgaccccgcctgcttgct	3	7	18	13	5	0	0	0	0	0	0	1	2	1	0	4	5	2	2	4	5	0	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:117103926C>T	ENST00000307564.4	-	21	4115	c.3954G>A	c.(3952-3954)tcG>tcA	p.S1318S	AKNA_ENST00000223791.3_Silent_p.S778S|AKNA_ENST00000374079.4_Silent_p.S263S|AKNA_ENST00000374075.5_Silent_p.S1237S|AKNA_ENST00000492875.1_5'UTR|AKNA_ENST00000374088.3_Silent_p.S1318S	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	1318					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GTGGGCGTGGCGACGACCCCG	0.627													32	106					0	0	1	0	0	T	117103926	C	T	117103926	2	4	242	1	0	0	0	0	0	0	0	1	460	755	27	1		1	AKNA	9	117103926	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1297773	117103926	24109505	523	12137											
AKNA	80709	broad.mit.edu	37	chr9	117106079	117106079	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggacagaacatggtattcGtggcctggggaaagaaacca	13	6	15	7	1	0	2	0	0	0	2	1	4	0	4	2	6	2	1	2	6	4	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:117106079G>A	ENST00000307564.4	-	19	3827	c.3666C>T	c.(3664-3666)caC>caT	p.H1222H	AKNA_ENST00000223791.3_Silent_p.H682H|AKNA_ENST00000374079.4_Silent_p.H167H|AKNA_ENST00000374075.5_Silent_p.H1141H|AKNA_ENST00000492875.1_5'UTR|AKNA_ENST00000374088.3_Silent_p.H1222H	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	1222					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						CATGGTATTCGTGGCCTGGGG	0.517													19	52					0	0	1	0	0	A	117106079	G	A	117106079	2	1	242	1	0	0	0	0	0	0	0	1	460	1136	40	1		1	AKNA	9	117106079	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	2153	117106079	24107352	524	12138											
TNFSF8	944	broad.mit.edu	37	chr9	117666341	117666341	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtaatccagcaagaatTgagagagattctggtatacg	14	9	12	6	1	1	3	0	1	1	3	2	5	2	3	1	2	2	4	1	2	5	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:117666341T>C	ENST00000223795.2	-	4	688	c.575A>G	c.(574-576)cAa>cGa	p.Q192R	TNFSF8_ENST00000474301.1_Intron	NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN	tumor necrosis factor (ligand) superfamily, member 8	192					cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						CAGCAAGAATTGAGAGAGATT	0.428													33	101					0	0	1	0	0	C	117666341	T	C	117666341	3	2	242	1	0	0	0	0	1	0	0	0	16371	1812	63	3	133	3	TNFSF8	9	117666341	Missense_Mutation	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	560262	117666341	23547090	525	12139											
PAPPA	5069	broad.mit.edu	37	chr9	119158888	119158888	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacctccggggatacagccAtggctaaggaaggacaagaa	15	4	13	9	1	0	2	0	0	0	2	1	5	1	5	3	5	2	1	3	5	5	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:119158888A>G	ENST00000328252.3	+	22	5246	c.4877A>G	c.(4876-4878)cAt>cGt	p.H1626R	PAPPA_ENST00000534838.1_Missense_Mutation_p.H664R|PAPPA_ENST00000483254.1_3'UTR	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1626					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GGATACAGCCATGGCTAAGGA	0.537													4	116					0	0	1	0	0	G	119158888	A	G	119158888	3	3	242	1	0	0	0	0	1	0	0	0	11479	217	8	3	4963	3	PAPPA	9	119158888	Missense_Mutation	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	1492547	119158888	22054543	526	12140											
ASTN2	23245	broad.mit.edu	37	chr9	119249669	119249669	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcgggctccagacacttgaAgatgactgagtagatactga	12	9	12	8	1	0	7	0	4	0	3	2	7	1	7	1	1	1	2	1	1	3	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:119249669A>T	ENST00000313400.4	-	20	3566	c.3466T>A	c.(3466-3468)Ttc>Atc	p.F1156I	ASTN2_ENST00000361209.2_Missense_Mutation_p.F1105I|ASTN2_ENST00000341734.4_Missense_Mutation_p.F208I|ASTN2_ENST00000373996.3_Missense_Mutation_p.F1152I|ASTN2_ENST00000361477.3_Missense_Mutation_p.F208I|ASTN2_ENST00000288520.5_Missense_Mutation_p.F257I			O75129	ASTN2_HUMAN	astrotactin 2	1156	Fibronectin type-III.					integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						AGACACTTGAAGATGACTGAG	0.498													33	83					0	0	1	0	0	T	119249669	A	T	119249669	3	4	242	1	0	0	0	0	1	0	0	0	1064	72	3	5	610	5	ASTN2	9	119249669	Missense_Mutation	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	90781	119249669	21963762	527	12141											
TRAF1	7185	broad.mit.edu	37	chr9	123675925	123675925	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actccaggccacagcccagcCgggccttccactgtttcatg	7	8	9	17	1	1	0	1	0	0	0	3	0	3	0	6	2	2	1	6	2	0	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:123675925C>T	ENST00000373887.3	-	5	2831	c.386G>A	c.(385-387)cGg>cAg	p.R129Q	TRAF1_ENST00000546084.1_Missense_Mutation_p.R7Q|TRAF1_ENST00000540010.1_Missense_Mutation_p.R129Q	NM_005658.4	NP_005649.1	Q13077	TRAF1_HUMAN	TNF receptor-associated factor 1	129					apoptosis|positive regulation of NF-kappaB transcription factor activity|protein complex assembly|regulation of apoptosis|signal transduction	cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(4)|pancreas(1)|skin(2)	22						ACAGCCCAGCCGGGCCTTCCA	0.627													4	101					0	0	1	0	0	T	123675925	C	T	123675925	3	4	242	1	0	0	0	0	1	0	0	0	16498	652	23	1	880	1	TRAF1	9	123675925	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	4426256	123675925	17537506	528	12142											
DAB2IP	153090	broad.mit.edu	37	chr9	124535156	124535156	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcagctcagctggtggcCgggtggccggcccgggcaac	4	5	18	14	3	1	0	1	0	0	0	1	0	1	0	3	6	4	5	3	6	1	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:124535156C>T	ENST00000408936.3	+	12	2531	c.2349C>T	c.(2347-2349)gcC>gcT	p.A783A	DAB2IP_ENST00000259371.2_Silent_p.A755A|DAB2IP_ENST00000309989.1_Silent_p.A659A			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	783					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						AGCTGGTGGCCGGGTGGCCGG	0.756													9	20					0	0	1	0	0	T	124535156	C	T	124535156	2	4	242	1	0	0	0	0	0	0	0	1	4243	639	23	1		1	DAB2IP	9	124535156	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	859231	124535156	16678275	529	12143											
ZNF79	7633	broad.mit.edu	37	chr9	130198257	130198257	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgcatggatgctggagggCgaagacctgcgaagtccctc	8	6	16	11	3	0	1	0	0	0	1	2	5	1	3	2	4	2	2	2	4	2	0	rs148235940	by1000genomes	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:130198257C>T	ENST00000342483.5	+	4	709	c.303C>T	c.(301-303)ggC>ggT	p.G101G	ZNF79_ENST00000543471.1_Silent_p.G77G	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	101	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						TGCTGGAGGGCGAAGACCTGC	0.507													7	111					0	0	1	0	0	T	130198257	C	T	130198257	2	4	242	1	0	0	0	0	0	0	0	1	18210	755	27	1		1	ZNF79	9	130198257	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	5663101	130198257	11015174	530	12144											
FAM129B	64855	broad.mit.edu	37	chr9	130293932	130293932	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagcacctctcaccttgcGccagagcagctgggcctgcg	6	6	11	18	2	1	1	1	0	1	1	2	1	1	1	5	1	5	3	5	1	0	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:130293932G>A	ENST00000373312.3	-	2	394	c.181C>T	c.(181-183)Cgc>Tgc	p.R61C	FAM129B_ENST00000468379.1_5'UTR|FAM129B_ENST00000373314.3_Missense_Mutation_p.R48C	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	61							protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						CTCACCTTGCGCCAGAGCAGC	0.592													36	72					0	0	1	0	0	A	130293932	G	A	130293932	3	1	242	1	0	0	0	0	1	0	0	0	5468	1087	38	1	2111	1	FAM129B	9	130293932	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	95675	130293932	10919499	531	12145											
LRRC8A	56262	broad.mit.edu	37	chr9	131671592	131671592	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccagaacctagccatcacgGccaaccgggtgagtggcccg	9	5	12	15	3	1	2	1	1	0	1	2	2	2	2	6	3	3	0	6	3	3	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:131671592G>A	ENST00000259324.5	+	3	2672	c.2149G>A	c.(2149-2151)Gcc>Acc	p.A717T	LRRC8A_ENST00000372600.4_Missense_Mutation_p.A717T|LRRC8A_ENST00000372599.3_Missense_Mutation_p.A717T	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	717					pre-B cell differentiation	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						AGCCATCACGGCCAACCGGGT	0.672													29	86					0	0	1	0	0	A	131671592	G	A	131671592	3	1	242	1	0	0	0	0	1	0	0	0	9066	1203	42	2	2151	2	LRRC8A	9	131671592	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1377660	131671592	9541839	532	12146											
FAM73B	84895	broad.mit.edu	37	chr9	131832160	131832160	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatctcccatttctactcCgtatcggagcatgtgagccc	7	13	7	14	2	3	1	1	1	2	0	6	2	4	2	3	1	3	2	3	1	2	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:131832160C>T	ENST00000358369.4	+	15	1717	c.1491C>T	c.(1489-1491)tcC>tcT	p.S497S	FAM73B_ENST00000277475.5_3'UTR|FAM73B_ENST00000406926.2_3'UTR	NM_032809.2	NP_116198.2	Q7L4E1	FA73B_HUMAN	family with sequence similarity 73, member B	497						integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						ATTTCTACTCCGTATCGGAGC	0.592													73	156					0	0	1	0	0	T	131832160	C	T	131832160	2	4	242	1	0	0	0	0	0	0	0	1	5652	639	23	1		1	FAM73B	9	131832160	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	160568	131832160	9381271	533	12147											
ABL1	25	broad.mit.edu	37	chr9	133738400	133738400	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggaagaaatacagcctgaCggtggccgtgaagaccttga	12	7	14	8	2	0	5	0	3	0	2	0	6	0	6	3	3	2	0	3	3	4	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:133738400C>T	ENST00000318560.5	+	4	1181	c.800C>T	c.(799-801)aCg>aTg	p.T267M		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	267	Protein kinase.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	TACAGCCTGACGGTGGCCGTG	0.622			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"								11	29					0	0	1	0	0	T	133738400	C	T	133738400	3	4	242	1	0	0	0	0	1	0	0	0	92	536	19	1	954	1	ABL1	9	133738400	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1906240	133738400	7475031	534	12148											
ABL1	25	broad.mit.edu	37	chr9	133759623	133759623	+	Frame_Shift_Del	DEL	C	C	-																															caacggggcactggctttcaCccccttggacacagctgacc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:133759623delC	ENST00000318560.5	+	11	2327	c.1946delC	c.(1945-1947)acfs	p.T649fs		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	649					actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	CTGGCTTTCACCCCCTTGGAC	0.682			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"								31	80	---	---	---	---						-	133759623	C	-	133759623	7	5	242	1	0	1	0	1	0	0	0	0	92	507	18	0	2128	0	ABL1	9	133759623	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	21223	133759623	7453808	535	12149											
NTNG2	84628	broad.mit.edu	37	chr9	135073796	135073796	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcgaggtgcgggaccgcttCgccatctttgccggccccga	4	9	13	15	6	1	0	0	0	1	0	3	3	1	1	5	3	2	1	5	3	0	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:135073796C>T	ENST00000393229.3	+	3	1433	c.657C>T	c.(655-657)ttC>ttT	p.F219F	NTNG2_ENST00000393228.4_Silent_p.F219F|NTNG2_ENST00000372179.3_Silent_p.F219F|NTNG2_ENST00000360670.3_Silent_p.F219F	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	219	Laminin N-terminal.				axonogenesis	anchored to plasma membrane				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		GGGACCGCTTCGCCATCTTTG	0.657													25	69					0	0	1	0	0	T	135073796	C	T	135073796	2	4	242	1	0	0	0	0	0	0	0	1	10753	883	31	1		1	NTNG2	9	135073796	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1314173	135073796	6139635	536	12150											
TTF1	7270	broad.mit.edu	37	chr9	135275597	135275597	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagataagtatcttatttcGgaatcttcagctgtttccac	10	15	7	9	1	3	1	1	0	2	1	5	2	4	2	1	1	1	4	1	1	4	6	rs144643349	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:135275597G>A	ENST00000334270.2	-	3	1455	c.1416C>T	c.(1414-1416)tcC>tcT	p.S472S		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	472					negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		ATCTTATTTCGGAATCTTCAG	0.413													17	58					0	0	1	0	0	A	135275597	G	A	135275597	2	1	242	1	0	0	0	0	0	0	0	1	16780	1103	39	1		1	TTF1	9	135275597	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	201801	135275597	5937834	537	12151											
OBP2B	29989	broad.mit.edu	37	chr9	136083533	136083533	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcacaggcgctgtatttGccaggctcctccgtcttccg	4	11	11	15	3	2	0	1	0	1	0	5	0	5	0	4	3	1	4	4	3	1	3	rs138653366	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:136083533G>A	ENST00000372032.2	-	3	173	c.130C>T	c.(130-132)Caa>Taa	p.Q44*	OBP2B_ENST00000461961.1_5'UTR|OBP2B_ENST00000372034.3_Silent_p.G88G			Q9NPH6	OBP2B_HUMAN	odorant binding protein 2B	0					chemosensory behavior|sensory perception of smell	extracellular region	odorant binding|transporter activity			central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7				OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)		CGCTGTATTTGCCAGGCTCCT	0.647													11	30					0	0	1	0	0	A	136083533	G	A	136083533	4	1	242	1	0	0	0	0	0	1	0	0	10859	1306	46	2	264	2	OBP2B	9	136083533	Nonsense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	807936	136083533	5129898	538	12152											
SURF4	6836	broad.mit.edu	37	chr9	136230378	136230380	+	In_Frame_Del	DEL	CTT	CTT	-																															atctgtgactgttaccactcCttcttcttctcatccatgga																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:136230378_136230380delCTT	ENST00000371989.3	-	6	928_930	c.799_801delAAG	c.(799-801)del	p.K267del	SURF4_ENST00000485435.2_Intron|SURF4_ENST00000545297.1_3'UTR	NM_033161.2	NP_149351.1	O15260	SURF4_HUMAN	surfeit 4	267						endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding			kidney(1)|large_intestine(2)|lung(5)	8				OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)		GTTACCACTCCTTCTTCTTCTCA	0.547													9	30	---	---	---	---						-	136230380	CTT	-	136230378	7	5	242	1	0	1	0	1	0	0	0	0	15461	680	24	0	12	0	SURF4	9	136230378	In_Frame_Del	DEL	CTT	TCGA-KK-A59V-01A-11D-A29Q-08	146845	136230378	4983053	539	12153											
SEC16A	9919	broad.mit.edu	37	chr9	139350603	139350603	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagctggggatcgaagagtcGtaactgggaagccatctaga	12	7	14	8	2	1	2	0	0	1	2	3	5	1	4	1	3	3	2	1	3	4	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:139350603G>A	ENST00000313050.7	-	17	5639	c.5566C>T	c.(5566-5568)Cga>Tga	p.R1856*	SEC16A_ENST00000431893.2_Nonsense_Mutation_p.R1678*|SEC16A_ENST00000371706.3_Nonsense_Mutation_p.R1678*|SEC16A_ENST00000290037.6_Nonsense_Mutation_p.R1678*	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1678	Pro-rich.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		TCGAAGAGTCGTAACTGGGAA	0.567													4	77					0	0	1	0	0	A	139350603	G	A	139350603	4	1	242	1	0	0	0	0	0	1	0	0	14040	1153	40	1	1563	1	SEC16A	9	139350603	Nonsense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	3120225	139350603	1862828	540	12154											
PNPLA7	375775	broad.mit.edu	37	chr9	140361795	140361795	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccactgcttggcccggatccGcatctggctgtagttccgct	4	11	11	15	3	1	0	0	0	1	0	3	1	3	1	4	3	1	6	4	3	1	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr9:140361795G>A	ENST00000406427.1	-	26	3349	c.3013C>T	c.(3013-3015)Cgg>Tgg	p.R1005W	PNPLA7_ENST00000277531.4_Missense_Mutation_p.R980W|PNPLA7_ENST00000371457.1_Missense_Mutation_p.R586W|PNPLA7_ENST00000492278.1_5'UTR	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	980	Patatin.				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GCCCGGATCCGCATCTGGCTG	0.677													13	32					0	0	1	0	0	A	140361795	G	A	140361795	3	1	242	1	0	0	0	0	1	0	0	0	12218	1086	38	1	1055	1	PNPLA7	9	140361795	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1011192	140361795	851636	541	12155											
PITRM1	10531	broad.mit.edu	37	chr10	3189816	3189816	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctgcgggcgtgagggtcCggcctgccctgatggatgcg	3	7	17	14	4	0	2	0	2	0	0	1	3	1	3	5	4	3	0	5	4	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:3189816C>T	ENST00000380989.2	-	19	2224	c.2186G>A	c.(2185-2187)cGg>cAg	p.R729Q	PITRM1_ENST00000380994.1_Missense_Mutation_p.R286Q|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000464395.1_5'UTR|PITRM1_ENST00000451104.2_Missense_Mutation_p.R630Q|PITRM1_ENST00000224949.4_Missense_Mutation_p.R728Q|PITRM1-AS1_ENST00000601046.1_RNA	NM_001242307.1|NM_014889.3	NP_001229236.1|NP_055704.2	E7ES23	E7ES23_HUMAN	pitrilysin metallopeptidase 1	630					proteolysis		metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						CGTGAGGGTCCGGCCTGCCCT	0.582													46	150					0	0	1	0	0	T	3189816	C	T	3189816	3	4	242	1	0	0	0	0	1	0	0	0	12001	652	23	1	966	1	PITRM1	10	3189816	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08		3189816	132344931	542	12156											
ASB13	79754	broad.mit.edu	37	chr10	5691016	5691016	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcccaaaatggcaatcgtgcGcttccagattggccccgacg	9	8	10	14	4	0	1	0	0	0	1	3	2	2	1	4	2	1	2	4	2	3	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:5691016G>A	ENST00000357700.6	-	4	460	c.434C>T	c.(433-435)gCg>gTg	p.A145V	ASB13_ENST00000479033.1_5'UTR	NM_024701.3	NP_078977.2	Q8WXK3	ASB13_HUMAN	ankyrin repeat and SOCS box containing 13	145					intracellular signal transduction		protein binding			NS(1)|endometrium(3)|lung(3)|ovary(1)	8				GBM - Glioblastoma multiforme(2;9.59e-09)		GCAATCGTGCGCTTCCAGATT	0.537													44	105					0	0	1	0	0	A	5691016	G	A	5691016	3	1	242	1	0	0	0	0	1	0	0	0	1016	1087	38	1	414	1	ASB13	10	5691016	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	2501200	5691016	129843731	543	12157											
DHTKD1	55526	broad.mit.edu	37	chr10	12131158	12131158	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggccgtcaaccccgtggcCgtgggcaaaactcgcggcag	8	4	15	14	5	1	0	1	0	0	0	2	1	1	0	4	4	2	2	4	4	3	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:12131158C>T	ENST00000263035.4	+	5	953	c.891C>T	c.(889-891)gcC>gcT	p.A297A	DHTKD1_ENST00000465617.1_Intron	NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	297					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			ACCCCGTGGCCGTGGGCAAAA	0.612													7	117					0	0	1	0	0	T	12131158	C	T	12131158	2	4	242	1	0	0	0	0	0	0	0	1	4528	639	23	1		1	DHTKD1	10	12131158	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	6440142	12131158	123403589	544	12158											
MCM10	55388	broad.mit.edu	37	chr10	13230974	13230974	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtccaccttctctggaggaCgaattccaaagaagtttgcc	11	10	9	11	1	1	1	0	0	1	1	4	4	3	3	4	2	1	1	4	2	3	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:13230974C>T	ENST00000378694.1	+	9	1384	c.1309C>T	c.(1309-1311)Cga>Tga	p.R437*	MCM10_ENST00000484800.2_Nonsense_Mutation_p.R438*|MCM10_ENST00000378714.3_Nonsense_Mutation_p.R437*			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	438					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						CTCTGGAGGACGAATTCCAAA	0.537													5	175					0	0	1	0	0	T	13230974	C	T	13230974	4	4	242	1	0	0	0	0	0	1	0	0	9435	528	19	1	1346	1	MCM10	10	13230974	Nonsense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1099816	13230974	122303773	545	12159											
UCMA	221044	broad.mit.edu	37	chr10	13264116	13264116	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgggatcaggtgtggtggCggttgtagagataggatggg	8	10	21	2	1	1	1	1	0	0	1	1	5	1	3	0	7	0	2	0	7	2	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:13264116C>T	ENST00000378681.3	-	5	476	c.404G>A	c.(403-405)cGc>cAc	p.R135H	UCMA_ENST00000463405.2_Missense_Mutation_p.R113H	NM_145314.1	NP_660357.2	Q8WVF2	UCMA_HUMAN	upper zone of growth plate and cartilage matrix associated	135						proteinaceous extracellular matrix				breast(2)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						GGTGTGGTGGCGGTTGTAGAG	0.587													15	45					0	0	1	0	0	T	13264116	C	T	13264116	3	4	242	1	0	0	0	0	1	0	0	0	16986	768	27	1	16	1	UCMA	10	13264116	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	33142	13264116	122270631	546	12160											
RPP38	10557	broad.mit.edu	37	chr10	15145385	15145385	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctctggttgtgaagacgtcGttgaacaacccatacatcat	11	11	8	11	2	2	3	1	2	1	1	3	3	2	3	2	1	3	2	2	1	4	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:15145385G>A	ENST00000378197.4	+	3	586	c.72G>A	c.(70-72)tcG>tcA	p.S24S	NMT2_ENST00000466201.1_5'UTR|RPP38_ENST00000451677.1_Intron|RPP38_ENST00000378202.5_Silent_p.S24S	NM_183005.4	NP_892117.1	P78345	RPP38_HUMAN	ribonuclease P/MRP 38kDa subunit	24				S -> A (in Ref. 1; AA sequence).	tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)	8						TGAAGACGTCGTTGAACAACC	0.512													27	67					0	0	1	0	0	A	15145385	G	A	15145385	2	1	242	1	0	0	0	0	0	0	0	1	13665	1132	40	1		1	RPP38	10	15145385	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1881269	15145385	120389362	547	12161											
NSUN6	221078	broad.mit.edu	37	chr10	18834895	18834895	+	Frame_Shift_Del	DEL	A	A	-																															cattttacaaattttgcaatAaaaaaacctatagagtcctt																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:18834895delA	ENST00000377304.4	-	11	1795	c.1377delT	c.(1375-1377)ttfs	p.F459fs		NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN	NOP2/Sun domain family, member 6	459							methyltransferase activity|RNA binding			endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						ATTTTGCAATAAAAAAACCTA	0.393													10	181	---	---	---	---						-	18834895	A	-	18834895	7	5	242	1	0	1	0	1	0	0	0	0	10730	359	13	0	36	0	NSUN6	10	18834895	Frame_Shift_Del	DEL	A	TCGA-KK-A59V-01A-11D-A29Q-08	3689510	18834895	116699852	548	12162											
GPR158	57512	broad.mit.edu	37	chr10	25886833	25886833	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccatcatgagacgcattacgGagatcccagagacagtcagc	13	6	10	12	2	2	3	2	1	0	3	3	6	3	3	2	1	2	1	2	1	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:25886833G>A	ENST00000376351.3	+	11	2637	c.2278G>A	c.(2278-2280)Gag>Aag	p.E760K	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	760						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						ACGCATTACGGAGATCCCAGA	0.532													4	169					0	0	1	0	0	A	25886833	G	A	25886833	3	1	242	1	0	0	0	0	1	0	0	0	6703	1175	41	2	2320	2	GPR158	10	25886833	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	7051938	25886833	109647914	549	12163											
MYO3A	53904	broad.mit.edu	37	chr10	26463097	26463097	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atcaaaatgcaaacagcatgGaaaaagaaaagaagacatct	23	5	7	6	0	2	3	1	0	1	3	2	4	2	4	0	1	3	2	0	1	8	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:26463097G>T	ENST00000265944.5	+	30	4070	c.3904G>T	c.(3904-3906)Gaa>Taa	p.E1302*	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1302					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AAACAGCATGGAAAAAGAAAA	0.448													22	92					1.22574e-08	1.26671e-08	1	1	0	T	26463097	G	T	26463097	4	4	242	1	0	0	0	0	0	1	0	0	10124	1175	41	4	4014	4	MYO3A	10	26463097	Nonsense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	576264	26463097	109071650	550	12164											
ARMC4	55130	broad.mit.edu	37	chr10	28272875	28272875	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccacgaatttgtctccacGgtggggctcgacatccattt	7	11	9	14	3	1	0	0	0	1	0	4	2	2	0	4	3	0	1	4	3	1	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:28272875G>A	ENST00000305242.5	-	6	808	c.716C>T	c.(715-717)cCg>cTg	p.P239L	ARMC4_ENST00000239715.3_Missense_Mutation_p.P96L	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	239							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TTGTCTCCACGGTGGGGCTCG	0.408													6	41					0	0	1	0	0	A	28272875	G	A	28272875	3	1	242	1	0	0	0	0	1	0	0	0	952	1116	39	1	2478	1	ARMC4	10	28272875	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1809778	28272875	107261872	551	12165											
ZNF33B	7582	broad.mit.edu	37	chr10	43088126	43088126	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagatttgacttttgagagaAggttttcctgcatgtgttac	9	16	11	5	0	0	4	0	2	0	2	1	6	1	4	1	1	2	3	1	1	2	6			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:43088126A>G	ENST00000359467.3	-	5	2386	c.2272T>C	c.(2272-2274)Ttc>Ctc	p.F758L	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	758						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						TTTTGAGAGAAGGTTTTCCTG	0.373													4	155					0	0	1	0	0	G	43088126	A	G	43088126	3	3	242	1	0	0	0	0	1	0	0	0	17912	72	3	3	68	3	ZNF33B	10	43088126	Missense_Mutation	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	14815251	43088126	92446621	552	12166											
FAM21C	253725	broad.mit.edu	37	chr10	46272820	46272820	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggataagaaggttgagAgtgccaaggagtcattaaaa	15	9	13	4	0	1	2	1	1	0	2	1	5	1	4	1	3	1	1	1	3	5	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:46272820A>G	ENST00000336378.4	+	22	2354	c.2236A>G	c.(2236-2238)Agt>Ggt	p.S746G	FAM21C_ENST00000540872.1_Missense_Mutation_p.S748G|FAM21C_ENST00000374362.2_Missense_Mutation_p.S748G|FAM21C_ENST00000537517.1_Intron|FAM21C_ENST00000359860.4_Missense_Mutation_p.S690G	NM_015262.2	NP_056077.2	A8K5W5	A8K5W5_HUMAN	family with sequence similarity 21, member C	748										central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						GAAGGTTGAGAGTGCCAAGGA	0.428													8	140					0	0	1	0	0	G	46272820	A	G	46272820	3	3	242	1	0	0	0	0	1	0	0	0	5574	304	11	3	2328	3	FAM21C	10	46272820	Missense_Mutation	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	3184694	46272820	89261927	553	12167											
GDF10	2662	broad.mit.edu	37	chr10	48428868	48428868	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcctggcccttcttcctgcGgtctttgcgccctggccggg	0	12	12	17	3	2	0	0	0	2	0	4	0	4	0	5	4	2	0	5	4	0	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:48428868G>A	ENST00000224605.2	-	2	1283	c.1018C>T	c.(1018-1020)Cgc>Tgc	p.R340C		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	340					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	p.R340C(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						TTCTTCCTGCGGTCTTTGCGC	0.662													23	37					0	0	1	0	0	A	48428868	G	A	48428868	3	1	242	1	0	0	0	0	1	0	0	0	6353	1116	39	1	426	1	GDF10	10	48428868	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	2156048	48428868	87105879	554	12168											
AIFM2	84883	broad.mit.edu	37	chr10	71883673	71883673	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcacattacctgtctccacGgaggctcggagagcagccac	10	6	11	14	2	1	1	0	0	1	1	3	3	1	2	3	3	4	3	3	3	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:71883673G>A	ENST00000307864.1	-	2	381	c.168C>T	c.(166-168)tcC>tcT	p.S56S	AIFM2_ENST00000373248.1_Silent_p.S56S	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	Q9BRQ8	AIFM2_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 2	56					apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis	cytosol|integral to membrane|mitochondrial outer membrane	DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						CTGTCTCCACGGAGGCTCGGA	0.602													9	24					0	0	1	0	0	A	71883673	G	A	71883673	2	1	242	1	0	0	0	0	0	0	0	1	424	1103	39	1		1	AIFM2	10	71883673	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	23454805	71883673	63651074	555	12169											
ADAMTS14	140766	broad.mit.edu	37	chr10	72462205	72462205	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggagtgggcagaacctgaCggggacctgcacaatgaagg	12	4	16	9	1	0	3	0	2	0	1	0	5	0	5	2	5	2	2	2	5	3	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:72462205C>T	ENST00000373208.1	+	3	660	c.660C>T	c.(658-660)gaC>gaT	p.D220D	ADAMTS14_ENST00000373207.1_Silent_p.D220D	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	220					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CAGAACCTGACGGGGACCTGC	0.617													4	65					0	0	1	0	0	T	72462205	C	T	72462205	2	4	242	1	0	0	0	0	0	0	0	1	258	535	19	1		1	ADAMTS14	10	72462205	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	578532	72462205	63072542	556	12170											
CDH23	64072	broad.mit.edu	37	chr10	73575024	73575024	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagacccccctggagatcAcagagctgtgactagacagg	11	6	13	11	0	1	5	1	1	0	4	1	7	1	5	3	3	1	1	3	3	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:73575024A>T	ENST00000224721.6	+	69	10074	c.10069A>T	c.(10069-10071)Aca>Tca	p.T3357S	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.T1112S	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	3352					calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CCTGGAGATCACAGAGCTGTG	0.647													8	11					0	0	1	0	0	T	73575024	A	T	73575024	3	4	242	1	0	0	0	0	1	0	0	0	3130	159	6	5	10748	5	CDH23	10	73575024	Missense_Mutation	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	1112819	73575024	61959723	557	12171											
KCNMA1	3778	broad.mit.edu	37	chr10	78647236	78647236	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagatcaggtccgtcggcaCgagctcaaactcatagggcg	11	6	13	11	4	3	1	3	0	0	1	5	3	4	1	1	3	2	2	1	3	3	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:78647236C>T	ENST00000286627.5	-	27	4277	c.3325G>A	c.(3325-3327)Gtg>Atg	p.V1109M	KCNMA1_ENST00000404857.1_Missense_Mutation_p.V1150M|KCNMA1_ENST00000354353.5_Missense_Mutation_p.V1170M|KCNMA1_ENST00000286628.8_Missense_Mutation_p.V1167M|KCNMA1_ENST00000372443.1_Missense_Mutation_p.V1136M|KCNMA1_ENST00000406533.3_Missense_Mutation_p.V1171M|KCNMA1_ENST00000404771.3_Missense_Mutation_p.V1167M|KCNMA1_ENST00000372440.1_Missense_Mutation_p.V1109M	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	1167					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	p.V1109L(1)|p.V1171L(1)		breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	TCCGTCGGCACGAGCTCAAAC	0.547													24	55					0	0	1	0	0	T	78647236	C	T	78647236	3	4	242	1	0	0	0	0	1	0	0	0	8117	536	19	1	244	1	KCNMA1	10	78647236	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	5072212	78647236	56887511	558	12172											
NRG3	10718	broad.mit.edu	37	chr10	83635352	83635352	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggggctcagcctcatgcttCtcaaatggatcgtggtgggc	6	11	14	10	1	3	0	3	0	1	0	5	1	3	1	1	5	2	2	1	5	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:83635352C>T	ENST00000404547.1	+	1	256	c.256C>T	c.(256-258)Ctc>Ttc	p.L86F	NRG3_ENST00000372141.2_Missense_Mutation_p.L86F			P56975	NRG3_HUMAN	neuregulin 3	86					regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		CCTCATGCTTCTCAAATGGAT	0.612													17	42					0	0	1	0	0	T	83635352	C	T	83635352	3	4	242	1	0	0	0	0	1	0	0	0	10697	913	32	2	258	2	NRG3	10	83635352	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	4988116	83635352	51899395	559	12173											
RGR	5995	broad.mit.edu	37	chr10	86007450	86007450	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgctgagcttggctcttgcGgacagtgggatcagcctgaa	7	10	15	9	1	2	2	1	2	1	0	2	4	2	4	1	3	4	3	1	3	1	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:86007450G>A	ENST00000372092.3	+	2	138	c.133G>A	c.(133-135)Gga>Aga	p.G45R	RGR_ENST00000358110.5_Silent_p.A61A|RGR_ENST00000359452.4_Silent_p.A61A			P47804	RGR_HUMAN	retinal G protein coupled receptor	0					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						TGGCTCTTGCGGACAGTGGGA	0.627													37	127					0	0	1	0	0	A	86007450	G	A	86007450	3	1	242	1	0	0	0	0	1	0	0	0	13341	1103	39	1	189	1	RGR	10	86007450	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	2372098	86007450	49527297	560	12174											
ATAD1	84896	broad.mit.edu	37	chr10	89550131	89550132	+	Frame_Shift_Del	DEL	TG	TG	-																															tttttgataggtaagatgacTgtgtctttcagatccgtaat																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:89550131_89550132delTG	ENST00000308448.7	-	4	695_696	c.317_318delCA	c.(316-318)afs	p.T106fs	ATAD1_ENST00000328142.3_Frame_Shift_Del_p.T106fs|ATAD1_ENST00000495903.1_5'UTR|ATAD1_ENST00000541004.1_Frame_Shift_Del_p.T106fs|ATAD1_ENST00000400215.3_Frame_Shift_Del_p.T48fs	NM_032810.2	NP_116199.2	Q8NBU5	ATAD1_HUMAN	ATPase family, AAA domain containing 1	106						peroxisome	ATP binding|nucleoside-triphosphatase activity			kidney(1)|large_intestine(4)|lung(4)|ovary(1)	10		all_cancers(4;6.78e-12)|Prostate(4;3.56e-12)|all_epithelial(4;5.58e-09)|Melanoma(5;0.0273)|Breast(4;0.0424)|all_hematologic(4;0.0846)|Colorectal(252;0.207)|Glioma(4;0.217)|all_neural(4;0.224)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00131)|GBM - Glioblastoma multiforme(1;1.1e-32)|Lung(2;1.4e-05)|LUSC - Lung squamous cell carcinoma(2;2.69e-05)|Colorectal(12;7.09e-05)|COAD - Colon adenocarcinoma(12;0.000261)|STAD - Stomach adenocarcinoma(243;0.235)		GTAAGATGACTGTGTCTTTCAG	0.361													18	44	---	---	---	---						-	89550132	TG	-	89550131	7	5	242	1	0	1	0	1	0	0	0	0	1069	1567	55	0	795	0	ATAD1	10	89550131	Frame_Shift_Del	DEL	TG	TCGA-KK-A59V-01A-11D-A29Q-08	3542681	89550131	45984616	561	12175											
MYOF	26509	broad.mit.edu	37	chr10	95115421	95115421	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaatgggggtgtttgctcCgaacacagtggtggcactgt	9	10	14	8	1	0	0	0	0	0	0	1	1	1	0	1	4	3	3	1	4	3	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:95115421C>T	ENST00000371501.4	-	31	3489	c.3367G>A	c.(3367-3369)Gga>Aga	p.G1123R	MYOF_ENST00000359263.4_Missense_Mutation_p.G1123R|MYOF_ENST00000371502.4_Missense_Mutation_p.G1123R|MYOF_ENST00000358334.5_Missense_Mutation_p.G1110R			Q9NZM1	MYOF_HUMAN	myoferlin	1123					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GTGTTTGCTCCGAACACAGTG	0.408													6	246					0	0	1	0	0	T	95115421	C	T	95115421	3	4	242	1	0	0	0	0	1	0	0	0	10137	661	23	1	2914	1	MYOF	10	95115421	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	5565290	95115421	40419326	562	12176											
CYP2C18	1562	broad.mit.edu	37	chr10	96495025	96495025	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtctcttattttcaggaaaaCggatgtgtatgggagagggc	10	12	14	5	1	2	1	1	0	1	1	3	4	2	3	0	4	1	1	0	4	4	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:96495025C>T	ENST00000285979.6	+	9	1496	c.1297C>T	c.(1297-1299)Cgg>Tgg	p.R433W	CYP2C19_ENST00000464755.1_Intron|CYP2C18_ENST00000339022.5_Missense_Mutation_p.R374W	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		TTCAGGAAAACGGATGTGTAT	0.403													18	76					0	0	1	0	0	T	96495025	C	T	96495025	3	4	242	1	0	0	0	0	1	0	0	0	4188	527	19	1	1331	1	CYP2C18	10	96495025	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1379604	96495025	39039722	563	12177											
RRP12	23223	broad.mit.edu	37	chr10	99132912	99132912	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catacaggttgaagaggatcGgcagaaagttcttggcaaag	14	8	13	6	1	1	3	0	1	1	2	2	4	1	4	0	4	1	4	0	4	4	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:99132912G>A	ENST00000370992.4	-	18	2183	c.2072C>T	c.(2071-2073)cCg>cTg	p.P691L	RRP12_ENST00000414986.1_Missense_Mutation_p.P630L|RRP12_ENST00000536831.1_Missense_Mutation_p.P409L|RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000315563.6_Missense_Mutation_p.P591L	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	691						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		GAAGAGGATCGGCAGAAAGTT	0.557													13	48					0	0	1	0	0	A	99132912	G	A	99132912	3	1	242	1	0	0	0	0	1	0	0	0	13738	1116	39	1	1889	1	RRP12	10	99132912	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	2637887	99132912	36401835	564	12178											
COX15	1355	broad.mit.edu	37	chr10	101486760	101486760	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacagagggcaagaacacGtcctttcatgccacggctga	11	6	11	13	2	1	3	1	1	0	2	2	3	2	3	3	2	2	2	3	2	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:101486760G>A	ENST00000370483.5	-	4	597	c.547C>T	c.(547-549)Cgt>Tgt	p.R183C	CUTC_ENST00000493385.1_Intron|COX15_ENST00000016171.5_Missense_Mutation_p.R183C	NM_004376.5|NM_078470.4	NP_004367.2|NP_510870.1	Q7KZN9	COX15_HUMAN	cytochrome c oxidase assembly homolog 15 (yeast)	183					heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		GCAAGAACACGTCCTTTCATG	0.517													11	51					0	0	1	0	0	A	101486760	G	A	101486760	3	1	242	1	0	0	0	0	1	0	0	0	3787	1145	40	1	779	1	COX15	10	101486760	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	2353848	101486760	34047987	565	12179											
CPN1	1369	broad.mit.edu	37	chr10	101825108	101825108	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgcatccaccggatcaccGcccgggtctcgggttccacc	6	7	11	17	4	2	0	1	0	1	0	5	1	4	1	6	3	1	2	6	3	0	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:101825108G>A	ENST00000370418.3	-	4	847	c.596C>T	c.(595-597)gCg>gTg	p.A199V		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	199	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		CCGGATCACCGCCCGGGTCTC	0.577													13	55					0	0	1	0	0	A	101825108	G	A	101825108	3	1	242	1	0	0	0	0	1	0	0	0	3832	1087	38	1	804	1	CPN1	10	101825108	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	338348	101825108	33709639	566	12180											
PSD	5662	broad.mit.edu	37	chr10	104176689	104176689	+	Frame_Shift_Del	DEL	G	G	-																															tgctgccatacatgctggctGgggggctctggggcaccggg																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:104176689delG	ENST00000020673.5	-	2	633	c.107delC	c.(106-108)cafs	p.P36fs	PSD_ENST00000492902.2_5'UTR|PSD_ENST00000406432.1_Frame_Shift_Del_p.P36fs	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	36	Pro-rich.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		CATGCTGGCTGGGGGGCTCTG	0.677													8	82	---	---	---	---						-	104176689	G	-	104176689	7	5	242	1	0	1	0	1	0	0	0	0	12695	1348	47	0	3031	0	PSD	10	104176689	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	2351581	104176689	31358058	567	12181											
TMEM180	79847	broad.mit.edu	37	chr10	104230506	104230506	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggccgctgctggcgctgtcGttcctggcgttctgggtgcc	0	11	17	13	4	1	0	0	0	1	0	3	0	2	0	3	4	2	5	3	4	0	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:104230506G>A	ENST00000238936.4	+	5	573	c.336G>A	c.(334-336)tcG>tcA	p.S112S	TMEM180_ENST00000369931.3_Intron|TMEM180_ENST00000366277.2_Intron	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN	transmembrane protein 180	112						integral to membrane				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TGGCGCTGTCGTTCCTGGCGT	0.692													61	134					0	0	1	0	0	A	104230506	G	A	104230506	2	1	242	1	0	0	0	0	0	0	0	1	16159	1132	40	1		1	TMEM180	10	104230506	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	53817	104230506	31304241	568	12182											
SH3PXD2A	9644	broad.mit.edu	37	chr10	105362575	105362575	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgtctgcgggggcagctcCgaatcctcactcttggagcc	5	8	13	15	3	3	0	1	0	2	0	5	2	5	1	4	3	3	2	4	3	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:105362575C>T	ENST00000369774.4	-	15	2676	c.2400G>A	c.(2398-2400)tcG>tcA	p.S800S	SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000538130.1_Silent_p.S635S|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000355946.2_Silent_p.S772S|SH3PXD2A_ENST00000540321.1_Silent_p.S667S			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	800					cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		GGGGCAGCTCCGAATCCTCAC	0.637													88	196					0	0	1	0	0	T	105362575	C	T	105362575	2	4	242	1	0	0	0	0	0	0	0	1	14311	639	23	1		1	SH3PXD2A	10	105362575	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1132069	105362575	30172172	569	12183											
VTI1A	143187	broad.mit.edu	37	chr10	114428700	114428700	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgtttcttcttgtagcttcGggaaacagatgctaatttgg	8	17	10	6	1	2	1	0	0	2	1	3	2	2	2	0	2	3	4	0	2	3	8			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:114428700G>A	ENST00000393077.2	+	7	619	c.503G>A	c.(502-504)cGg>cAg	p.R168Q	VTI1A_ENST00000432306.1_Missense_Mutation_p.R168Q	NM_145206.2	NP_660207.2	Q96AJ9	VTI1A_HUMAN	vesicle transport through interaction with t-SNAREs 1A	168					intracellular protein transport|retrograde transport, endosome to Golgi	SNARE complex	protein transporter activity|SNAP receptor activity		VTI1A/TCF7L2(8)	breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		Colorectal(252;0.0314)|Breast(234;0.183)		Epithelial(162;0.0126)|all cancers(201;0.0487)		TTGTAGCTTCGGGAAACAGAT	0.373			T	TCF7L2	colorectal								8	118					0	0	1	0	0	A	114428700	G	A	114428700	3	1	242	1	0	0	0	0	1	0	0	0	17295	1116	39	1	529	1	VTI1A	10	114428700	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	9066125	114428700	21106047	570	12184											
VWA2	340706	broad.mit.edu	37	chr10	116014686	116014686	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctccctagtgatgtggtgctCggctgcagtggacatcatgt	6	12	13	10	1	1	1	1	1	0	0	3	2	2	2	1	3	2	3	1	3	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:116014686C>T	ENST00000603594.1	+	4	461	c.140C>T	c.(139-141)tCg>tTg	p.S47L	VWA2_ENST00000392982.3_Missense_Mutation_p.S47L	NM_001272046.1	NP_001258975.1	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	47						extracellular region				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		ATGTGGTGCTCGGCTGCAGTG	0.527													8	237					0	0	1	0	0	T	116014686	C	T	116014686	3	4	242	1	0	0	0	0	1	0	0	0	17299	893	31	1	150	1	VWA2	10	116014686	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1585986	116014686	19520061	571	12185											
ACADSB	36	broad.mit.edu	37	chr10	124810572	124810572	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgactgttacagggcctccAacaccaagtggctcacgtgg	9	8	11	13	1	1	1	1	1	0	0	2	1	2	1	3	3	2	2	3	3	3	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:124810572A>G	ENST00000358776.4	+	9	1012	c.998A>G	c.(997-999)cAa>cGa	p.Q333R	ACADSB_ENST00000368869.4_Missense_Mutation_p.Q231R	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN	acyl-CoA dehydrogenase, short/branched chain	333					branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)	CAGGGCCTCCAACACCAAGTG	0.453													4	17					0	0	1	0	0	G	124810572	A	G	124810572	3	3	242	1	0	0	0	0	1	0	0	0	115	130	5	3	1032	3	ACADSB	10	124810572	Missense_Mutation	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	8795886	124810572	10724175	572	12186											
CTBP2	1488	broad.mit.edu	37	chr10	126714845	126714845	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcggagaggcggccacgttgCgctccctctttagcagctcc	5	8	13	15	4	1	1	0	0	1	1	3	2	3	1	3	3	3	4	3	3	1	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:126714845C>T	ENST00000309035.6	-	1	1614	c.1484G>A	c.(1483-1485)cGc>cAc	p.R495H	CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000337195.5_Intron	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	55					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		GGCCACGTTGCGCTCCCTCTT	0.692													5	104					0	0	1	0	0	T	126714845	C	T	126714845	3	4	242	1	0	0	0	0	1	0	0	0	4022	768	27	1	1509	1	CTBP2	10	126714845	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1904273	126714845	8819902	573	12187											
MMP21	118856	broad.mit.edu	37	chr10	127462562	127462562	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggcctcgcccagcagccGccagctcagcgtcctcttgg	5	6	12	18	3	2	0	1	0	1	0	4	0	3	0	5	2	4	2	5	2	0	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:127462562G>A	ENST00000368808.3	-	2	534	c.535C>T	c.(535-537)Cgg>Tgg	p.R179W		NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN	matrix metallopeptidase 21	179					proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CCCAGCAGCCGCCAGCTCAGC	0.731													9	18					0	0	1	0	0	A	127462562	G	A	127462562	3	1	242	1	0	0	0	0	1	0	0	0	9708	1086	38	1	1198	1	MMP21	10	127462562	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	747717	127462562	8072185	574	12188											
FAM196A	642938	broad.mit.edu	37	chr10	128973691	128973691	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccggcggggtgtgagtctgCgacggctgctcactacattc	5	9	14	13	4	2	1	1	1	1	0	3	2	2	1	1	4	3	2	1	4	1	2	rs139302074	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:128973691C>T	ENST00000522781.1	-	4	1524	c.969G>A	c.(967-969)tcG>tcA	p.S323S	FAM196A_ENST00000424811.2_Silent_p.S323S|DOCK1_ENST00000280333.6_Intron	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	323										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TGTGAGTCTGCGACGGCTGCT	0.642													53	130					0	0	1	0	0	T	128973691	C	T	128973691	2	4	242	1	0	0	0	0	0	0	0	1	5560	755	27	1		1	FAM196A	10	128973691	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1511129	128973691	6561056	575	12189											
MKI67	4288	broad.mit.edu	37	chr10	129903178	129903178	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtcttctagagcctgggccTtttccttaggagtttgtggc	4	15	13	9	0	2	1	0	0	2	1	3	2	3	2	3	4	1	1	3	4	2	6			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:129903178T>C	ENST00000368654.3	-	13	7301	c.6926A>G	c.(6925-6927)aAg>aGg	p.K2309R	MKI67_ENST00000368653.3_Missense_Mutation_p.K1949R	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2309	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AGCCTGGGCCTTTTCCTTAGG	0.488													4	347					0	0	1	0	0	C	129903178	T	C	129903178	3	2	242	1	0	0	0	0	1	0	0	0	9646	1609	56	3	2856	3	MKI67	10	129903178	Missense_Mutation	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	929487	129903178	5631569	576	12190											
JAKMIP3	282973	broad.mit.edu	37	chr10	133949508	133949508	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagcgcctcagtcggaagaaCgaggatttgtctcatgcttt	10	11	11	9	3	2	1	2	0	1	1	4	4	2	3	1	2	3	1	1	2	3	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:133949508C>T	ENST00000298622.4	+	5	1182	c.1044C>T	c.(1042-1044)aaC>aaT	p.N348N		NM_001105521.2	NP_001098991.1			Janus kinase and microtubule interacting protein 3											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GTCGGAAGAACGAGGATTTGT	0.493													14	25					0	0	1	0	0	T	133949508	C	T	133949508	2	4	242	1	0	0	0	0	0	0	0	1	7986	535	19	1		1	JAKMIP3	10	133949508	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	4046330	133949508	1585239	577	12191											
PWWP2B	170394	broad.mit.edu	37	chr10	134218871	134218871	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaggccccgcaggacgaCggcagccaggaccccgaggt	9	1	15	16	4	0	0	0	0	0	0	0	4	0	2	5	5	2	3	5	5	0	0	rs145952219	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr10:134218871C>T	ENST00000305233.5	+	2	926	c.867C>T	c.(865-867)gaC>gaT	p.D289D	PWWP2B_ENST00000368609.4_Silent_p.D289D	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	289										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		CGCAGGACGACGGCAGCCAGG	0.701													16	48					0	0	1	0	0	T	134218871	C	T	134218871	2	4	242	1	0	0	0	0	0	0	0	1	12898	535	19	1		1	PWWP2B	10	134218871	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	269363	134218871	1315876	578	12192											
B4GALNT4	338707	broad.mit.edu	37	chr11	380294	380294	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcccgcaccccccaggaCgccagcagcatcgtgttcct	7	6	8	20	3	0	0	0	0	0	0	3	1	2	1	7	1	2	4	7	1	0	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:380294C>T	ENST00000329962.6	+	18	2718	c.2718C>T	c.(2716-2718)gaC>gaT	p.D906D		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	906						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCCCCCAGGACGCCAGCAGCA	0.701													19	54					0	0	1	0	0	T	380294	C	T	380294	2	4	242	1	0	0	0	0	0	0	0	1	1267	535	19	1		1	B4GALNT4	11	380294	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08		380294	134626222	579	12193											
PHRF1	57661	broad.mit.edu	37	chr11	607296	607296	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctggggcggttcaggctCggaacttgtcaaatgggagt	7	9	15	10	2	2	0	2	0	0	0	3	2	2	2	2	6	1	2	2	6	2	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:607296C>A	ENST00000264555.5	+	14	1968	c.1840C>A	c.(1840-1842)Cgg>Agg	p.R614R	PHRF1_ENST00000533464.1_Silent_p.R610R|PHRF1_ENST00000416188.2_Silent_p.R613R|PHRF1_ENST00000413872.2_Silent_p.R612R	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	614							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GGTTCAGGCTCGGAACTTGTC	0.672													5	143					0.000602214	0.000612978	1	1	0	A	607296	C	A	607296	2	1	242	1	0	0	0	0	0	0	0	1	11909	875	31	4		4	PHRF1	11	607296	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	227002	607296	134399220	580	12194											
EPS8L2	64787	broad.mit.edu	37	chr11	720196	720196	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaggtgaacgaccagtcGctgcggctgctggacatcga	8	7	14	12	4	0	1	0	1	0	0	2	4	0	2	1	3	4	4	1	3	1	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:720196G>A	ENST00000533256.1	+	6	675	c.300G>A	c.(298-300)tcG>tcA	p.S100S	EPS8L2_ENST00000318562.8_Silent_p.S100S|AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000526198.1_Silent_p.S100S|EPS8L2_ENST00000530636.1_Silent_p.S100S			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	100	PID.					cytoplasm				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACGACCAGTCGCTGCGGCTGC	0.662													5	72					0	0	1	0	0	A	720196	G	A	720196	2	1	242	1	0	0	0	0	0	0	0	1	5224	1074	38	1		1	EPS8L2	11	720196	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	112900	720196	134286320	581	12195											
PDDC1	347862	broad.mit.edu	37	chr11	771082	771082	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtggcggtccagcacgacGtggacagcgtcaggctcgct	7	6	16	12	5	1	0	1	0	0	0	3	2	2	1	1	5	2	3	1	5	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:771082G>A	ENST00000319863.8	-	7	588	c.567C>T	c.(565-567)caC>caT	p.H189H	PDDC1_ENST00000526325.1_Intron|PDDC1_ENST00000529966.1_5'UTR|PDDC1_ENST00000524550.1_Silent_p.H153H|PDDC1_ENST00000442059.2_Silent_p.H139H|PDDC1_ENST00000397472.2_Intron	NM_182612.2	NP_872418.1	Q8NB37	PDDC1_HUMAN	Parkinson disease 7 domain containing 1	189						extracellular region				kidney(1)|lung(3)|urinary_tract(1)	5		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;3.66e-26)|Epithelial(43;2.43e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-19)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCAGCACGACGTGGACAGCGT	0.667													8	18					0	0	1	0	0	A	771082	G	A	771082	2	1	242	1	0	0	0	0	0	0	0	1	11676	1136	40	1		1	PDDC1	11	771082	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	50886	771082	134235434	582	12196											
SLC25A22	79751	broad.mit.edu	37	chr11	792012	792012	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggggcgcgatgaccagcGcgcggcagtaggcgcccttc	8	4	16	13	6	0	1	0	1	0	0	1	2	0	1	2	4	1	2	2	4	2	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:792012G>A	ENST00000320230.5	-	10	1356	c.875C>T	c.(874-876)gCg>gTg	p.A292V	SLC25A22_ENST00000531214.1_Missense_Mutation_p.A292V	NM_001191061.1|NM_024698.5	NP_001177990.1|NP_078974.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22	292						integral to membrane|mitochondrial inner membrane|nucleus	L-glutamate transmembrane transporter activity|protein binding|symporter activity			endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	L-Glutamic Acid(DB00142)	GATGACCAGCGCGCGGCAGTA	0.692													4	18					0	0	1	0	0	A	792012	G	A	792012	3	1	242	1	0	0	0	0	1	0	0	0	14540	1087	38	1	100	1	SLC25A22	11	792012	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	20930	792012	134214504	583	12197											
MUC5B	727897	broad.mit.edu	37	chr11	1262500	1262500	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caacccagaccacagcaaccGaaaagaccaccctatgggtg	15	3	8	15	1	0	2	0	0	0	2	0	3	0	2	5	1	3	1	5	1	5	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:1262500G>A	ENST00000447027.1	+	31	4457	c.4399G>A	c.(4399-4401)Gaa>Aaa	p.E1467K	MUC5B_ENST00000529681.1_Missense_Mutation_p.E1464K			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1464	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CACAGCAACCGAAAAGACCAC	0.706													5	7					0	0	1	0	0	A	1262500	G	A	1262500	3	1	242	1	0	0	0	0	1	0	0	0	10027	1059	37	1	4521	1	MUC5B	11	1262500	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	470488	1262500	133744016	584	12198											
MUC5B	727897	broad.mit.edu	37	chr11	1267116	1267116	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagaccacagcagccactacGaccgcaaccactggatccac	13	3	7	18	2	0	1	0	0	0	1	1	3	1	2	5	1	4	2	5	1	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:1267116G>A	ENST00000447027.1	+	31	9073	c.9015G>A	c.(9013-9015)acG>acA	p.T3005T	MUC5B_ENST00000529681.1_Silent_p.T3002T|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3002	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CAGCCACTACGACCGCAACCA	0.677													68	195					0	0	1	0	0	A	1267116	G	A	1267116	2	1	242	1	0	0	0	0	0	0	0	1	10027	1045	37	1		1	MUC5B	11	1267116	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	4616	1267116	133739400	585	12199											
MUC5B	727897	broad.mit.edu	37	chr11	1268946	1268946	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggggcagtctgtgagcagccCctgggcctcgagtgccgtgc	4	7	17	13	2	1	1	0	1	1	0	2	2	1	1	4	3	4	2	4	3	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:1268946C>T	ENST00000447027.1	+	31	10903	c.10845C>T	c.(10843-10845)ccC>ccT	p.P3615P	MUC5B_ENST00000529681.1_Silent_p.P3612P|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3612	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GTGAGCAGCCCCTGGGCCTCG	0.677													5	149					0	0	1	0	0	T	1268946	C	T	1268946	2	4	242	1	0	0	0	0	0	0	0	1	10027	610	22	2		2	MUC5B	11	1268946	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1830	1268946	133737570	586	12200											
CTSD	1509	broad.mit.edu	37	chr11	1780295	1780295	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgtaggtgctggacttgtcGctgttgtacttgtggtggat	5	15	15	6	2	0	0	0	0	0	0	1	2	0	2	0	4	2	5	0	4	2	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:1780295G>A	ENST00000236671.2	-	4	507	c.375C>T	c.(373-375)agC>agT	p.S125S		NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	125					cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity			endometrium(1)|large_intestine(4)|lung(8)	13		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGGACTTGTCGCTGTTGTACT	0.627													79	180					0	0	1	0	0	A	1780295	G	A	1780295	2	1	242	1	0	0	0	0	0	0	0	1	4056	1078	38	1		1	CTSD	11	1780295	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	511349	1780295	133226221	587	12201											
CD81	975	broad.mit.edu	37	chr11	2416745	2416745	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtggtgaagaccttccacGagacggtgcggccccggggg	6	6	17	12	4	0	3	0	1	0	2	1	4	1	3	4	5	1	0	4	5	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:2416745G>A	ENST00000263645.5	+	5	710	c.454G>A	c.(454-456)Gag>Aag	p.E152K	CD81_ENST00000524805.1_3'UTR|CD81_ENST00000526072.1_Missense_Mutation_p.E81K|CD81_ENST00000492627.1_Missense_Mutation_p.E81K|CD81_ENST00000381036.3_Missense_Mutation_p.E190K|CD81_ENST00000481687.1_Missense_Mutation_p.E158K	NM_004356.3	NP_004347.1	P60033	CD81_HUMAN	CD81 molecule	152					activation of MAPK activity|cell proliferation|phosphatidylinositol biosynthetic process|positive regulation of 1-phosphatidylinositol 4-kinase activity|positive regulation of cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization|regulation of immune response|virion attachment, binding of host cell surface receptor	integral to plasma membrane	protein binding			endometrium(1)|lung(3)|skin(1)	5		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191)		GACCTTCCACGAGACGGTGCG	0.657													19	50					0	0	1	0	0	A	2416745	G	A	2416745	3	1	242	1	0	0	0	0	1	0	0	0	3061	1059	37	1	472	1	CD81	11	2416745	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	636450	2416745	132589771	588	12202											
OR52D1	390066	broad.mit.edu	37	chr11	5510727	5510727	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgccttcttctccttcctcaCccaccgctttggtcaccacg	4	13	5	19	2	4	0	2	0	2	0	6	0	5	0	6	1	1	1	6	1	0	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:5510727C>T	ENST00000322641.5	+	1	813	c.791C>T	c.(790-792)aCc>aTc	p.T264I	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCTTCCTCACCCACCGCTTT	0.507													36	71					0	0	1	0	0	T	5510727	C	T	5510727	3	4	242	1	0	0	0	0	1	0	0	0	11162	507	18	2	793	2	OR52D1	11	5510727	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	3093982	5510727	129495789	589	12203											
DNHD1	144132	broad.mit.edu	37	chr11	6519838	6519838	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gacctgctaggtgccattgtCcaggcctttcctccagacag	7	10	10	14	0	0	1	0	0	0	1	3	2	3	1	6	2	2	1	6	2	1	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:6519838C>A	ENST00000254579.6	+	3	957	c.393C>A	c.(391-393)gtC>gtA	p.V131V	DNHD1_ENST00000354685.3_Silent_p.V131V|DNHD1_ENST00000527990.2_Silent_p.V131V|DNHD1_ENST00000477562.1_3'UTR	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	131					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GTGCCATTGTCCAGGCCTTTC	0.587													8	221					0.000157383	0.000160498	1	1	0	A	6519838	C	A	6519838	2	1	242	1	0	0	0	0	0	0	0	1	4695	842	30	4		4	DNHD1	11	6519838	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1009111	6519838	128486678	590	12204											
OR2D2	120776	broad.mit.edu	37	chr11	6913367	6913367	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gattgcagattgcaacatagCgatcataggacatcactgca	14	9	9	9	1	2	1	2	0	0	1	2	4	2	2	0	1	5	3	0	1	3	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:6913367C>T	ENST00000299459.2	-	1	463	c.365G>A	c.(364-366)cGc>cAc	p.R122H		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TGCAACATAGCGATCATAGGA	0.488													30	74					0	0	1	0	0	T	6913367	C	T	6913367	3	4	242	1	0	0	0	0	1	0	0	0	11042	768	27	1	564	1	OR2D2	11	6913367	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	393529	6913367	128093149	591	12205											
AMPD3	272	broad.mit.edu	37	chr11	10503681	10503681	+	Silent	SNP	G	G	A																															atgatccgggagaagtatgcGcggctcgcctaccaccgctt																								rs147701905		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:10503681G>A	ENST00000444303.2	+	3	493	c.21G>A	c.(19-21)gcG>gcA	p.A7A	AMPD3_ENST00000396554.3_Silent_p.A175A	NM_001172431.1	NP_001165902.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	166					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	p.A175A(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		AGAAGTATGCGCGGCTCGCCT	0.612													52	130					0	0	1	0	0	A	10503681	G	A	10503681	2	1	242	1	0	0	0	0	0	0	0	1	583	1074	38	1		1	AMPD3	11	10503681	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	3590314	10503681	124502835	592	12206	61	2									
AMPD3	272	broad.mit.edu	37	chr11	10503688	10503688	+	Missense_Mutation	SNP	G	G	A																															gggagaagtatgcgcggctcGcctaccaccgcttcccgcgg																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:10503688G>A	ENST00000444303.2	+	3	500	c.28G>A	c.(28-30)Gcc>Acc	p.A10T	AMPD3_ENST00000396554.3_Missense_Mutation_p.A178T	NM_001172431.1	NP_001165902.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	169					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		TGCGCGGCTCGCCTACCACCG	0.617													46	121					0	0	1	0	0	A	10503688	G	A	10503688	3	1	242	1	0	0	0	0	1	0	0	0	583	1087	38	1	566	1	AMPD3	11	10503688	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	7	10503688	124502828	593	12207	61	2									
CTR9	9646	broad.mit.edu	37	chr11	10786119	10786119	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attttttggcgtcattggacCgtgcaaaagcagaagcggaa	12	10	12	7	3	1	1	1	0	0	1	1	3	1	3	1	3	3	2	1	3	4	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:10786119C>T	ENST00000361367.2	+	12	1864	c.1438C>T	c.(1438-1440)Cgt>Tgt	p.R480C		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	480					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GTCATTGGACCGTGCAAAAGC	0.373													7	30					0	0	1	0	0	T	10786119	C	T	10786119	3	4	242	1	0	0	0	0	1	0	0	0	4048	652	23	1	1484	1	CTR9	11	10786119	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	282431	10786119	124220397	594	12208											
TEAD1	7003	broad.mit.edu	37	chr11	12901217	12901217	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacctgcctggtagccatgcGttatgtattaagttggtgtg	8	14	12	7	1	0	0	0	0	0	0	0	0	0	0	3	2	4	4	3	2	5	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:12901217G>A	ENST00000526600.1	+	1	228	c.5G>A	c.(4-6)cGt>cAt	p.R2H	TEAD1_ENST00000361985.2_Intron|TEAD1_ENST00000361905.4_Intron|TEAD1_ENST00000527575.1_Intron|TEAD1_ENST00000527636.1_Intron|TEAD1_ENST00000334310.6_Intron			P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	0					hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GTAGCCATGCGTTATGTATTA	0.488													31	62					0	0	1	0	0	A	12901217	G	A	12901217	3	1	242	1	0	0	0	0	1	0	0	0	15797	1160	40	1		1	TEAD1	11	12901217	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	2115098	12901217	122105299	595	12209											
SOX6	55553	broad.mit.edu	37	chr11	16340073	16340073	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcaagactccctttgcggcGctctggggttccaaaagtaa	9	9	12	11	2	1	1	0	0	1	1	3	1	3	1	2	4	1	4	2	4	4	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:16340073G>A	ENST00000352083.6	-	3	441	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C	SOX6_ENST00000396356.3_Missense_Mutation_p.R122C|SOX6_ENST00000316399.6_Missense_Mutation_p.R122C|SOX6_ENST00000528252.1_Missense_Mutation_p.R122C|SOX6_ENST00000528429.1_Missense_Mutation_p.R122C|SOX6_ENST00000533658.1_5'UTR|SOX6_ENST00000527619.1_Missense_Mutation_p.R125C			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	122					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	p.R122C(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						CCTTTGCGGCGCTCTGGGGTT	0.502													71	151					0	0	1	0	0	A	16340073	G	A	16340073	3	1	242	1	0	0	0	0	1	0	0	0	15009	1087	38	1	2220	1	SOX6	11	16340073	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	3438856	16340073	118666443	596	12210											
HPS5	11234	broad.mit.edu	37	chr11	18332308	18332308	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgcttgtttagaagtatTgagtttgatagcagaaacct	11	16	9	5	0	0	4	0	2	0	2	0	4	0	4	1	0	3	5	1	0	5	8			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:18332308T>A	ENST00000396253.3	-	4	577	c.115A>T	c.(115-117)Aat>Tat	p.N39Y	HPS5_ENST00000349215.3_Missense_Mutation_p.N153Y|HPS5_ENST00000438420.2_Missense_Mutation_p.N39Y|HPS5_ENST00000531848.1_Missense_Mutation_p.N39Y	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	153						cytosol				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TTAGAAGTATTGAGTTTGATA	0.398									Hermansky-Pudlak syndrome				22	50					0	0	1	0	0	A	18332308	T	A	18332308	3	1	242	1	0	0	0	0	1	0	0	0	7383	1812	63	5	3008	5	HPS5	11	18332308	Missense_Mutation	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	1992235	18332308	116674208	597	12211											
MRGPRX1	259249	broad.mit.edu	37	chr11	18956195	18956195	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggagccagagcacaactGcgtttcctgtcagcccgaca	10	6	10	15	2	1	1	1	0	0	1	2	3	2	2	4	1	5	2	4	1	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:18956195G>A	ENST00000302797.3	-	1	361	c.137C>T	c.(136-138)gCa>gTa	p.A46V	MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	46					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GAGCACAACTGCGTTTCCTGT	0.582													73	357					0	0	1	0	0	A	18956195	G	A	18956195	3	1	242	1	0	0	0	0	1	0	0	0	9815	1319	46	2	835	2	MRGPRX1	11	18956195	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	623887	18956195	116050321	598	12212											
TTC17	55761	broad.mit.edu	37	chr11	43465702	43465702	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcagatagaaaatggacatCgttaccaagcaaacctagag	17	7	9	8	1	1	3	1	0	0	3	2	4	1	4	2	1	3	2	2	1	7	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:43465702C>T	ENST00000039989.4	+	18	2622	c.2608C>T	c.(2608-2610)Cgt>Tgt	p.R870C	TTC17_ENST00000299240.6_Missense_Mutation_p.R927C|TTC17_ENST00000526774.1_3'UTR	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	870							binding	p.R870C(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						AAATGGACATCGTTACCAAGC	0.408													17	39					0	0	1	0	0	T	43465702	C	T	43465702	3	4	242	1	0	0	0	0	1	0	0	0	16746	884	31	1	2678	1	TTC17	11	43465702	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	24509507	43465702	91540814	599	12213											
ACCSL	390110	broad.mit.edu	37	chr11	44079911	44079911	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccaattgctaccggctcCgggaagctcacaagtacatc	11	7	8	15	2	1	0	1	0	0	0	3	1	2	1	4	2	4	4	4	2	5	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:44079911C>T	ENST00000378832.1	+	12	1428	c.1372C>T	c.(1372-1374)Cgg>Tgg	p.R458W		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	458							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						CTACCGGCTCCGGGAAGCTCA	0.463													4	99					0	0	1	0	0	T	44079911	C	T	44079911	3	4	242	1	0	0	0	0	1	0	0	0	134	643	23	1	1418	1	ACCSL	11	44079911	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	614209	44079911	90926605	600	12214											
ACCS	84680	broad.mit.edu	37	chr11	44098898	44098898	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgtctctatggcaacatccGgctggcctatgtctacctgg	6	12	11	12	1	2	0	0	0	2	0	4	0	3	0	3	4	2	2	3	4	4	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:44098898G>A	ENST00000263776.8	+	7	1060	c.626G>A	c.(625-627)cGg>cAg	p.R209Q	ACCS_ENST00000432284.2_3'UTR|ACCS_ENST00000533208.1_3'UTR	NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	209							1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						GGCAACATCCGGCTGGCCTAT	0.567													55	164					0	0	1	0	0	A	44098898	G	A	44098898	3	1	242	1	0	0	0	0	1	0	0	0	133	1116	39	1	648	1	ACCS	11	44098898	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	18987	44098898	90907618	601	12215											
CRY2	1408	broad.mit.edu	37	chr11	45893726	45893726	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctggtgaagaactcagcAaacgggcccgggtggcagag	11	4	15	11	2	1	3	1	1	0	2	1	3	1	3	2	4	3	2	2	4	3	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:45893726A>G	ENST00000443527.2	+	11	1811	c.1789A>G	c.(1789-1791)Aaa>Gaa	p.K597E	CRY2_ENST00000417225.2_Missense_Mutation_p.K515E	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome 2 (photolyase-like)	576					DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						AGAACTCAGCAAACGGGCCCG	0.597													25	64					0	0	1	0	0	G	45893726	A	G	45893726	3	3	242	1	0	0	0	0	1	0	0	0	3927	131	5	3	1867	3	CRY2	11	45893726	Missense_Mutation	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	1794828	45893726	89112790	602	12216											
LRP4	4038	broad.mit.edu	37	chr11	46921856	46921856	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcacagtcgttgtccccGtcacacacccaggagcggcg	7	7	10	17	4	2	0	2	0	0	0	5	1	4	1	4	2	1	1	4	2	0	1	rs150401820		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:46921856G>A	ENST00000378623.1	-	3	515	c.273C>T	c.(271-273)gaC>gaT	p.D91D		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	91	LDL-receptor class A 2.				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CGTTGTCCCCGTCACACACCC	0.522													23	73					0	0	1	0	0	A	46921856	G	A	46921856	2	1	242	1	0	0	0	0	0	0	0	1	9004	1136	40	1		1	LRP4	11	46921856	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1028130	46921856	88084660	603	12217											
MYBPC3	4607	broad.mit.edu	37	chr11	47360137	47360137	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcactgtgaccgtgtagaCgccctcatcttccttctctg	5	14	7	15	2	4	2	2	1	2	1	6	2	5	2	3	0	0	1	3	0	1	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:47360137C>T	ENST00000399249.2	-	22	2296	c.2242G>A	c.(2242-2244)Gtc>Atc	p.V748I	MYBPC3_ENST00000545968.1_Missense_Mutation_p.V748I|MYBPC3_ENST00000256993.4_Missense_Mutation_p.V747I			Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	747	Ig-like C2-type 5.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		ACCGTGTAGACGCCCTCATCT	0.637													13	45					0	0	1	0	0	T	47360137	C	T	47360137	3	4	242	1	0	0	0	0	1	0	0	0	10061	536	19	1	1630	1	MYBPC3	11	47360137	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	438281	47360137	87646379	604	12218											
OR4C46	119749	broad.mit.edu	37	chr11	51515877	51515877	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctggaactcttcattgctgCcaacagtggattcatctgct	8	13	9	11	0	4	0	2	0	2	0	4	2	4	2	1	2	5	3	1	2	2	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:51515877C>T	ENST00000328188.1	+	1	596	c.596C>T	c.(595-597)gCc>gTc	p.A199V		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						TTCATTGCTGCCAACAGTGGA	0.483													8	102					0	0	1	0	0	T	51515877	C	T	51515877	3	4	242	1	0	0	0	0	1	0	0	0	11099	739	26	2	598	2	OR4C46	11	51515877	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	4155740	51515877	83490639	605	12219											
TRIM48	79097	broad.mit.edu	37	chr11	55036727	55036727	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccttgcaggagtgagtcCgtgctgctgcacatgcccca	6	11	11	13	1	0	1	0	1	0	0	2	2	2	2	4	1	5	4	4	1	0	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:55036727C>T	ENST00000417545.2	+	5	674	c.588C>T	c.(586-588)tcC>tcT	p.S196S		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	180						intracellular	zinc ion binding			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						GGAGTGAGTCCGTGCTGCTGC	0.468													16	40					0	0	1	0	0	T	55036727	C	T	55036727	2	4	242	1	0	0	0	0	0	0	0	1	16584	639	23	1		1	TRIM48	11	55036727	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	3520850	55036727	79969789	606	12220											
OR9G1	390174	broad.mit.edu	37	chr11	56467959	56467959	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttcgtggtgttcctgggCgtgtactctctcactgtggt	2	16	12	11	2	3	0	1	0	2	0	6	0	4	0	1	3	1	2	1	3	1	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:56467959C>T	ENST00000312153.1	+	1	96	c.96C>T	c.(94-96)ggC>ggT	p.G32G		NM_001005213.1	NP_001005213.1			olfactory receptor, family 9, subfamily G, member 1											breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						TGTTCCTGGGCGTGTACTCTC	0.502													24	113					0	0	1	0	0	T	56467959	C	T	56467959	2	4	242	1	0	0	0	0	0	0	0	1	11297	755	27	1		1	OR9G1	11	56467959	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1431232	56467959	78538557	607	12221											
PATL1	219988	broad.mit.edu	37	chr11	59415348	59415348	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caaccattctcttcccttttCggatacacatgatctgtaca	10	14	4	13	1	2	1	0	1	2	0	5	2	3	2	2	1	3	1	2	1	3	6			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:59415348C>T	ENST00000300146.9	-	15	1856	c.1772G>A	c.(1771-1773)cGa>cAa	p.R591Q		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	591	Region C.				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						CTTCCCTTTTCGGATACACAT	0.443													12	47					0	0	1	0	0	T	59415348	C	T	59415348	3	4	242	1	0	0	0	0	1	0	0	0	11522	884	31	1	560	1	PATL1	11	59415348	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	2947389	59415348	75591168	608	12222											
CCDC86	79080	broad.mit.edu	37	chr11	60615458	60615458	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcagcggaagatgaaggaaCgacaggagaggaagctggcc	14	2	18	7	2	0	3	0	1	0	2	0	8	0	6	1	6	3	2	1	6	4	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:60615458C>T	ENST00000227520.5	+	2	874	c.820C>T	c.(820-822)Cga>Tga	p.R274*	CCDC86_ENST00000545580.1_Nonsense_Mutation_p.R18*|RP11-804A23.4_ENST00000538705.1_RNA	NM_024098.3	NP_077003.1	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	274					interspecies interaction between organisms	nucleus				endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3)	10						GATGAAGGAACGACAGGAGAG	0.632													50	114					0	0	1	0	0	T	60615458	C	T	60615458	4	4	242	1	0	0	0	0	0	1	0	0	2881	528	19	1	826	1	CCDC86	11	60615458	Nonsense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1200110	60615458	74391058	609	12223											
INCENP	3619	broad.mit.edu	37	chr11	61914294	61914294	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cggcgcgagcaggagcggcgGgagcaggagcggcgcgagca	8	0	22	11	8	0	0	0	0	0	0	0	5	0	3	0	6	5	3	0	6	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:61914294G>C	ENST00000394818.3	+	15	2326	c.2124G>C	c.(2122-2124)cgG>cgC	p.R708R	INCENP_ENST00000278849.4_Silent_p.R704R	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	708					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						aggagcggcgggagcaggagc	0.756													3	0					0	0	1	0	0	C	61914294	G	C	61914294	2	2	242	1	0	0	0	0	0	0	0	1	7777	1219	43	4		4	INCENP	11	61914294	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1298836	61914294	73092222	610	12224											
LRRN4CL	221091	broad.mit.edu	37	chr11	62455621	62455621	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgcgcagcctcgctgccGtcccaaagcagcagccagta	8	7	10	16	3	1	0	0	0	1	0	3	0	2	0	4	0	6	5	4	0	2	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:62455621G>A	ENST00000317449.4	-	2	837	c.360C>T	c.(358-360)gaC>gaT	p.D120D		NM_203422.2	NP_981967.1	Q8ND94	LRN4L_HUMAN	LRRN4 C-terminal like	120	Fibronectin type-III.					integral to membrane		p.D120D(1)		cervix(1)|kidney(1)	2						CCTCGCTGCCGTCCCAAAGCA	0.657													13	34					0	0	1	0	0	A	62455621	G	A	62455621	2	1	242	1	0	0	0	0	0	0	0	1	9083	1136	40	1		1	LRRN4CL	11	62455621	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	541327	62455621	72550895	611	12225											
MARK2	2011	broad.mit.edu	37	chr11	63672512	63672512	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttcacctccaagtttgtacGcaggtaagcaaggagctttg	10	11	11	9	1	1	0	1	0	0	0	2	1	2	1	2	2	3	7	2	2	4	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:63672512G>A	ENST00000402010.2	+	16	2510	c.1931G>A	c.(1930-1932)cGc>cAc	p.R644H	MARK2_ENST00000377810.3_Missense_Mutation_p.R556H|MARK2_ENST00000361128.5_Missense_Mutation_p.R590H|MARK2_ENST00000350490.7_Missense_Mutation_p.R589H|MARK2_ENST00000513765.2_Missense_Mutation_p.R611H|MARK2_ENST00000509502.2_Missense_Mutation_p.R610H|MARK2_ENST00000408948.3_Missense_Mutation_p.R556H|MARK2_ENST00000508192.1_Missense_Mutation_p.R589H|MARK2_ENST00000425897.2_Missense_Mutation_p.R564H|MARK2_ENST00000377809.4_Missense_Mutation_p.R644H|MARK2_ENST00000502399.3_Missense_Mutation_p.R643H|MARK2_ENST00000315032.8_Missense_Mutation_p.R644H|MARK2_ENST00000413835.2_Missense_Mutation_p.R590H	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	644					cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						AAGTTTGTACGCAGGTAAGCA	0.632													60	132					0	0	1	0	0	A	63672512	G	A	63672512	3	1	242	1	0	0	0	0	1	0	0	0	9363	1087	38	1	1993	1	MARK2	11	63672512	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1216891	63672512	71334004	612	12226											
MARK2	2011	broad.mit.edu	37	chr11	63676558	63676558	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgtgcatgcacggcaCgccgggccacgaggacttcg	6	6	15	14	5	0	0	0	0	0	0	1	2	0	1	2	3	3	5	2	3	0	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:63676558C>T	ENST00000402010.2	+	19	2795	c.2216C>T	c.(2215-2217)aCg>aTg	p.T739M	MARK2_ENST00000377810.3_Missense_Mutation_p.T642M|MARK2_ENST00000361128.5_Missense_Mutation_p.T670M|MARK2_ENST00000350490.7_Missense_Mutation_p.T660M|MARK2_ENST00000513765.2_Missense_Mutation_p.T706M|MARK2_ENST00000509502.2_Missense_Mutation_p.T696M|MARK2_ENST00000408948.3_Missense_Mutation_p.T642M|MARK2_ENST00000508192.1_Missense_Mutation_p.T675M|MARK2_ENST00000425897.2_Missense_Mutation_p.T650M|MARK2_ENST00000377809.4_Missense_Mutation_p.T724M|MARK2_ENST00000502399.3_Missense_Mutation_p.T729M|MARK2_ENST00000315032.8_Missense_Mutation_p.T730M|MARK2_ENST00000413835.2_Missense_Mutation_p.T685M	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	739	KA1.				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						ATGCACGGCACGCCGGGCCAC	0.612													4	100					0	0	1	0	0	T	63676558	C	T	63676558	3	4	242	1	0	0	0	0	1	0	0	0	9363	536	19	1	2290	1	MARK2	11	63676558	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	4046	63676558	71329958	613	12227											
RPS6KA4	8986	broad.mit.edu	37	chr11	64129351	64129351	+	Frame_Shift_Del	DEL	C	C	-																															ctgaagtgctcccctcccttCccccctcggatcgggcccgt																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:64129351delC	ENST00000528057.1	+	8	871	c.783delC	c.(781-783)ttfs	p.F261fs	RPS6KA4_ENST00000334205.4_Frame_Shift_Del_p.F261fs|RPS6KA4_ENST00000294261.4_Frame_Shift_Del_p.F261fs	NM_001006944.1	NP_001006945.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	261	Protein kinase 1.				axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						CCCCTCCCTTCCCCCCTCGGA	0.692													40	133	---	---	---	---						-	64129351	C	-	64129351	7	5	242	1	0	1	0	1	0	0	0	0	13705	854	30	0	813	0	RPS6KA4	11	64129351	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	452793	64129351	70877165	614	12228											
NRXN2	9379	broad.mit.edu	37	chr11	64434790	64434790	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccttgcggctggatgccCgcagcttgatgcccccagat	6	9	12	14	2	0	3	0	2	0	1	0	4	0	4	4	2	4	3	4	2	0	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:64434790C>T	ENST00000265459.6	-	9	2191	c.1730G>A	c.(1729-1731)cGg>cAg	p.R577Q	NRXN2_ENST00000377551.1_Missense_Mutation_p.R577Q|NRXN2_ENST00000377559.3_Missense_Mutation_p.R546Q|NRXN2_ENST00000409571.1_Missense_Mutation_p.R570Q	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	577	Laminin G-like 3.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						GCTGGATGCCCGCAGCTTGAT	0.597													7	140					0	0	1	0	0	T	64434790	C	T	64434790	3	4	242	1	0	0	0	0	1	0	0	0	10714	652	23	1	3737	1	NRXN2	11	64434790	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	305439	64434790	70571726	615	12229											
EHD1	10938	broad.mit.edu	37	chr11	64627665	64627665	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgccttgttcagcaccaCgcggatcttgtcctcatggt	5	13	10	13	2	4	0	2	0	2	0	5	1	5	1	3	2	2	2	3	2	0	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:64627665C>T	ENST00000320631.3	-	3	900	c.646G>A	c.(646-648)Gtg>Atg	p.V216M	EHD1_ENST00000359393.2_Missense_Mutation_p.V216M	NM_006795.2	NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	216				V -> M (in Ref. 2; AAD45866).	blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						TTCAGCACCACGCGGATCTTG	0.582													14	58					0	0	1	0	0	T	64627665	C	T	64627665	3	4	242	1	0	0	0	0	1	0	0	0	5003	536	19	1	970	1	EHD1	11	64627665	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	192875	64627665	70378851	616	12230											
TIGD3	220359	broad.mit.edu	37	chr11	65124395	65124395	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcccggcaaaacgcccccGtcctcgcacaaaacctctga	10	5	7	19	4	1	1	0	1	1	0	4	1	3	1	5	1	2	3	5	1	4	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:65124395G>A	ENST00000309880.5	+	2	1323	c.1116G>A	c.(1114-1116)ccG>ccA	p.P372P		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	372					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						AAACGCCCCCGTCCTCGCACA	0.632													38	91					0	0	1	0	0	A	65124395	G	A	65124395	2	1	242	1	0	0	0	0	0	0	0	1	15957	1132	40	1		1	TIGD3	11	65124395	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	496730	65124395	69882121	617	12231											
SCYL1	57410	broad.mit.edu	37	chr11	65303495	65303495	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgcaccgtcccgggttgcGggtgtcctgggctttgctgc	1	13	15	12	3	0	0	0	0	0	0	2	0	2	0	3	3	4	4	3	3	0	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:65303495G>A	ENST00000524944.1	+	11	1491	c.1458G>A	c.(1456-1458)gcG>gcA	p.A486A	SCYL1_ENST00000525364.1_Silent_p.A486A|SCYL1_ENST00000279270.6_Silent_p.A486A|SCYL1_ENST00000420247.2_Silent_p.A486A|SCYL1_ENST00000533862.1_Silent_p.A486A|SCYL1_ENST00000527630.1_Silent_p.A486A|SCYL1_ENST00000270176.5_Silent_p.A486A|SCYL1_ENST00000527009.1_Silent_p.A343A			Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	486					regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity	p.A486A(1)		ovary(1)|skin(1)	2						CCCGGGTTGCGGGTGTCCTGG	0.597													31	74					0	0	1	0	0	A	65303495	G	A	65303495	2	1	242	1	0	0	0	0	0	0	0	1	14001	1103	39	1		1	SCYL1	11	65303495	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	179100	65303495	69703021	618	12232											
CNIH2	254263	broad.mit.edu	37	chr11	66050214	66050215	+	Frame_Shift_Ins	INS	-	-	A																															ccccaacagcgcgagcgtttINSaaaaaacatcgaacgcatct																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:66050214_66050215insA	ENST00000528852.1	+	3	428_429	c.161_162insA	c.(160-162)taafs	p.*54fs	CNIH2_ENST00000530519.1_3'UTR|CNIH2_ENST00000311445.6_Frame_Shift_Ins_p.*54fs			Q6PI25	CNIH2_HUMAN	cornichon family AMPA receptor auxiliary protein 2	54					intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|dendritic spine|endoplasmic reticulum membrane|postsynaptic density|postsynaptic membrane	protein binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5						CGCGAGCGTTTAAAAAACATCG	0.649											OREG0021100	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	41	---	---	---	---						A	66050215	-	A	66050214	7	5	242	1	0	1	1	0	0	0	0	0	3626	1764	61	0	171	0	CNIH2	11	66050214	Frame_Shift_Ins	INS	-	TCGA-KK-A59V-01A-11D-A29Q-08	746719	66050214	68956302	619	12233											
RHOD	29984	broad.mit.edu	37	chr11	66834316	66834316	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttgacaacatctttaacCgggtaggtactggggggcag	9	10	14	8	1	1	1	0	1	1	0	1	1	1	1	1	5	3	4	1	5	4	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:66834316C>T	ENST00000308831.2	+	3	413	c.328C>T	c.(328-330)Cgg>Tgg	p.R110W	RHOD_ENST00000533360.1_Missense_Mutation_p.R110W|RHOD_ENST00000532559.1_Intron	NM_014578.3	NP_055393.1	O00212	RHOD_HUMAN	ras homolog family member D	110					regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity			lung(3)	3						CATCTTTAACCGGGTAGGTAC	0.617													36	83					0	0	1	0	0	T	66834316	C	T	66834316	3	4	242	1	0	0	0	0	1	0	0	0	13387	643	23	1	338	1	RHOD	11	66834316	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	784102	66834316	68172200	620	12234											
MTL5	9633	broad.mit.edu	37	chr11	68517872	68517872	+	Frame_Shift_Del	DEL	C	C	-																															gctccccgccgtcgctgtcgCcccccgcgagcttcgccttg																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:68517872delC	ENST00000443940.2	-	2	343	c.257delG	c.(256-258)gcfs	p.G86fs	MTL5_ENST00000255087.5_Frame_Shift_Del_p.G86fs|MTL5_ENST00000544963.1_Frame_Shift_Del_p.G86fs			Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	86					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			GTCGCTGTCGCCCCCCGCGAG	0.751													5	7	---	---	---	---						-	68517872	C	-	68517872	7	5	242	1	0	1	0	1	0	0	0	0	9984	739	26	0	1309	0	MTL5	11	68517872	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	1683556	68517872	66488644	621	12235											
MRPL21	219927	broad.mit.edu	37	chr11	68664011	68664011	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcgaattctctctccacacGcaaggtctagttcatttcca	9	13	6	13	2	4	0	1	0	3	0	8	1	5	0	2	1	0	2	2	1	3	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:68664011G>A	ENST00000567045.1	-	4	348	c.113C>T	c.(112-114)gCg>gTg	p.A38V	MRPL21_ENST00000362034.2_Missense_Mutation_p.A123V|MRPL21_ENST00000450904.2_Missense_Mutation_p.A38V			Q7Z2W9	RM21_HUMAN	mitochondrial ribosomal protein L21	123					translation	mitochondrion|ribosome	RNA binding|structural constituent of ribosome			large_intestine(1)|lung(6)|prostate(1)	8			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CTCTCCACACGCAAGGTCTAG	0.532													50	156					0	0	1	0	0	A	68664011	G	A	68664011	3	1	242	1	0	0	0	0	1	0	0	0	9836	1087	38	1	265	1	MRPL21	11	68664011	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	146139	68664011	66342505	622	12236											
TPCN2	219931	broad.mit.edu	37	chr11	68822732	68822732	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacggcggacgtgcgctaccGcgctgctccctgggagccgc	4	5	15	17	7	0	0	0	0	0	0	1	2	1	2	3	3	4	3	3	3	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:68822732G>A	ENST00000294309.3	+	4	442	c.341G>A	c.(340-342)cGc>cAc	p.R114H	TPCN2_ENST00000442692.2_3'UTR|TPCN2_ENST00000542467.1_Missense_Mutation_p.R114H	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	114					cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GTGCGCTACCGCGCTGCTCCC	0.622													39	93					0	0	1	0	0	A	68822732	G	A	68822732	3	1	242	1	0	0	0	0	1	0	0	0	16457	1087	38	1	355	1	TPCN2	11	68822732	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	158721	68822732	66183784	623	12237											
SHANK2	22941	broad.mit.edu	37	chr11	70507841	70507841	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcccgtcatcatcaccgcgGccgctcctccgccggggacg	5	5	12	19	7	3	0	3	0	0	0	5	1	5	1	6	3	1	1	6	3	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:70507841G>A	ENST00000449833.2	-	1	82	c.32C>T	c.(31-33)gCc>gTc	p.A11V	SHANK2_ENST00000423696.2_Intron|SHANK2_ENST00000409530.1_Missense_Mutation_p.A10V|SHANK2_ENST00000449116.2_Missense_Mutation_p.A11V|SHANK2_ENST00000357171.3_Missense_Mutation_p.A11V|SHANK2_ENST00000409161.1_Missense_Mutation_p.A10V|SHANK2_ENST00000338508.4_Intron	NM_133266.3	NP_573573.2	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	0					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CATCACCGCGGCCGCTCCTCC	0.557													9	191					0	0	1	0	0	A	70507841	G	A	70507841	3	1	242	1	0	0	0	0	1	0	0	0	14320	1203	42	2	3797	2	SHANK2	11	70507841	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1685109	70507841	64498675	624	12238											
CLPB	81570	broad.mit.edu	37	chr11	72141383	72141383	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcttgcatattgttggcaCgggcagcttccaacagggct	7	12	11	11	1	1	0	0	0	1	0	2	0	2	0	1	3	3	6	1	3	2	6			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:72141383C>T	ENST00000294053.3	-	2	601	c.428G>A	c.(427-429)cGt>cAt	p.R143H	CLPB_ENST00000538039.1_Missense_Mutation_p.R143H|CLPB_ENST00000543042.1_Intron|CLPB_ENST00000340729.5_Missense_Mutation_p.R143H|CLPB_ENST00000542555.1_5'UTR|CLPB_ENST00000445069.2_Missense_Mutation_p.R39H|CLPB_ENST00000437826.2_Silent_p.P62P	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	143					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						ATTGTTGGCACGGGCAGCTTC	0.587													5	19					0	0	1	0	0	T	72141383	C	T	72141383	3	4	242	1	0	0	0	0	1	0	0	0	3574	536	19	1	1759	1	CLPB	11	72141383	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1633542	72141383	62865133	625	12239											
ARAP1	116985	broad.mit.edu	37	chr11	72420933	72420933	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgaagatgcggtagggcGtggtgaggtcgaagctgcgc	8	7	18	8	4	0	3	0	2	0	1	1	4	0	3	1	4	3	2	1	4	3	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:72420933G>A	ENST00000359373.5	-	11	2356	c.1505C>T	c.(1504-1506)aCg>aTg	p.T502M	ARAP1_ENST00000334211.8_Missense_Mutation_p.T257M|ARAP1_ENST00000393605.3_Missense_Mutation_p.T262M|ARAP1_ENST00000393609.3_Missense_Mutation_p.T502M|ARAP1_ENST00000455638.2_Missense_Mutation_p.T502M|ARAP1_ENST00000429686.1_Missense_Mutation_p.T257M|ARAP1_ENST00000426523.1_Missense_Mutation_p.T257M			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	502	PH 2.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						GCGGTAGGGCGTGGTGAGGTC	0.587													27	78					0	0	1	0	0	A	72420933	G	A	72420933	3	1	242	1	0	0	0	0	1	0	0	0	835	1145	40	1	2947	1	ARAP1	11	72420933	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	279550	72420933	62585583	626	12240											
UCP3	7352	broad.mit.edu	37	chr11	73714927	73714927	+	Frame_Shift_Del	DEL	G	G	-																															catctttatcatacagtcgaGggggctgaagtactggcctg																								rs145884716	by1000genomes	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:73714927delG	ENST00000314032.4	-	6	1321	c.769delC	c.(769-771)tcfs	p.L257fs	UCP3_ENST00000426995.2_Frame_Shift_Del_p.L257fs|UCP3_ENST00000348534.4_Frame_Shift_Del_p.L155fs	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN	uncoupling protein 3 (mitochondrial, proton carrier)	257					mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12	Breast(11;2.08e-05)					ATACAGTCGAGGGGGCTGAAG	0.617													42	152	---	---	---	---						-	73714927	G	-	73714927	7	5	242	1	0	1	0	1	0	0	0	0	16992	1000	35	0	181	0	UCP3	11	73714927	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	1293994	73714927	61291589	627	12241											
FAM181B	220382	broad.mit.edu	37	chr11	82443609	82443611	+	In_Frame_Del	DEL	GGC	GGC	-																															aatcgtaggacacctgatggGgcggcggcggcgggggcagg																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:82443609_82443611delGGC	ENST00000329203.3	-	1	1295_1297	c.1161_1163delGCC	c.(1159-1164)ccc>cc	p.PP387del		NM_175885.3	NP_787081.2	A6NEQ2	F181B_HUMAN	family with sequence similarity 181, member B	387	Pro-rich.									large_intestine(1)|lung(2)|prostate(1)	4						CACCTGATGGGGCGGCGGCGGCG	0.704													7	34	---	---	---	---						-	82443611	GGC	-	82443609	7	5	242	1	0	1	0	1	0	0	0	0	5540	1232	43	0	121	0	FAM181B	11	82443609	In_Frame_Del	DEL	GGC	TCGA-KK-A59V-01A-11D-A29Q-08	8728682	82443609	52562907	628	12242											
FAM76B	143684	broad.mit.edu	37	chr11	95519329	95519329	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaaagcacattgctgtttgCactgttcacaggtctgaggt	10	12	10	9	0	2	1	1	1	1	0	2	1	2	1	0	2	3	5	0	2	2	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:95519329C>T	ENST00000358780.5	-	4	629	c.317G>A	c.(316-318)tGc>tAc	p.C106Y	FAM76B_ENST00000536839.1_Missense_Mutation_p.C106Y	NM_144664.4	NP_653265.3	Q5HYJ3	FA76B_HUMAN	family with sequence similarity 76, member B	106										breast(1)|kidney(1)|lung(1)	3		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTGCTGTTTGCACTGTTCACA	0.373													30	90					0	0	1	0	0	T	95519329	C	T	95519329	3	4	242	1	0	0	0	0	1	0	0	0	5657	710	25	2	730	2	FAM76B	11	95519329	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	13075720	95519329	39487187	629	12243											
NNMT	4837	broad.mit.edu	37	chr11	114183174	114183174	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacttttctccctggtggCgaggaagctgagcagacccc	8	8	13	12	1	1	2	0	1	1	1	2	5	1	4	3	4	2	2	3	4	1	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:114183174C>T	ENST00000535401.1	+	5	1034	c.770C>T	c.(769-771)gCg>gTg	p.A257V	NNMT_ENST00000541754.1_Missense_Mutation_p.A62V|RP11-64D24.2_ENST00000544925.1_RNA|NNMT_ENST00000545255.1_Missense_Mutation_p.A62V|NNMT_ENST00000542647.1_Missense_Mutation_p.A62V|NNMT_ENST00000299964.3_Missense_Mutation_p.A257V			P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	257					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity			kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	TCCCTGGTGGCGAGGAAGCTG	0.483													14	106					0	0	1	0	0	T	114183174	C	T	114183174	3	4	242	1	0	0	0	0	1	0	0	0	10556	768	27	1	780	1	NNMT	11	114183174	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	18663845	114183174	20823342	630	12244											
APOA4	337	broad.mit.edu	37	chr11	116692116	116692116	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atagggagccaggctgcggcGcagctcctccacggtctggt	6	7	15	13	3	1	0	0	0	1	0	3	1	3	1	3	5	3	3	3	5	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:116692116G>A	ENST00000357780.3	-	3	772	c.658C>T	c.(658-660)Cgc>Tgc	p.R220C		NM_000482.3	NP_000473.2			apolipoprotein A-IV											cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		AGGCTGCGGCGCAGCTCCTCC	0.582													6	188					0	0	1	0	0	A	116692116	G	A	116692116	3	1	242	1	0	0	0	0	1	0	0	0	780	1087	38	1	536	1	APOA4	11	116692116	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	2508942	116692116	18314400	631	12245											
DSCAML1	57453	broad.mit.edu	37	chr11	117310075	117310075	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcctcagccttcactgcacGcagcagcagtgtgccattgg	7	9	11	14	1	2	0	2	0	0	0	3	0	3	0	3	1	5	4	3	1	0	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:117310075G>A	ENST00000321322.6	-	23	4232	c.4231C>T	c.(4231-4233)Cgt>Tgt	p.R1411C	DSCAML1_ENST00000527706.1_Missense_Mutation_p.R1141C	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1351	Fibronectin type-III 5.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TTCACTGCACGCAGCAGCAGT	0.607													25	65					0	0	1	0	0	A	117310075	G	A	117310075	3	1	242	1	0	0	0	0	1	0	0	0	4795	1087	38	1	2154	1	DSCAML1	11	117310075	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	617959	117310075	17696441	632	12246											
C2CD2L	9854	broad.mit.edu	37	chr11	118984807	118984807	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtgcccattgctcaggaCgagttggcgctatccctggg	6	9	14	12	2	1	0	1	0	0	0	2	2	2	1	2	4	2	3	2	4	1	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:118984807C>T	ENST00000336702.3	+	13	2003	c.1644C>T	c.(1642-1644)gaC>gaT	p.D548D	C2CD2L_ENST00000528586.1_Silent_p.D295D	NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN	C2CD2-like	547						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						TTGCTCAGGACGAGTTGGCGC	0.627													36	129					0	0	1	0	0	T	118984807	C	T	118984807	2	4	242	1	0	0	0	0	0	0	0	1	2167	535	19	1		1	C2CD2L	11	118984807	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1674732	118984807	16021709	633	12247											
TRIM29	23650	broad.mit.edu	37	chr11	120008242	120008242	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacagcacctcctcggagccGgacttggaccgtgaaaaaag	12	5	11	13	3	0	1	0	1	0	0	2	4	1	4	4	3	2	1	4	3	3	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:120008242G>A	ENST00000341846.5	-	1	919	c.498C>T	c.(496-498)tcC>tcT	p.S166S		NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	166					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		CCTCGGAGCCGGACTTGGACC	0.657													5	125					0	0	1	0	0	A	120008242	G	A	120008242	2	1	242	1	0	0	0	0	0	0	0	1	16564	1103	39	1		1	TRIM29	11	120008242	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1023435	120008242	14998274	634	12248											
SORL1	6653	broad.mit.edu	37	chr11	121476199	121476199	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttgaaaccagataccacgTatcaggttaaagtacaggtt	14	11	8	8	1	2	2	1	1	1	1	2	2	2	2	2	2	3	4	2	2	6	6			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:121476199T>C	ENST00000260197.7	+	35	4996	c.4867T>C	c.(4867-4869)Tat>Cat	p.Y1623H	SORL1_ENST00000527934.1_Missense_Mutation_p.Y238H|SORL1_ENST00000532694.1_Missense_Mutation_p.Y469H|SORL1_ENST00000525532.1_Missense_Mutation_p.Y567H|SORL1_ENST00000534286.1_Missense_Mutation_p.Y533H	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1623	Fibronectin type-III 1.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		AGATACCACGTATCAGGTTAA	0.448													67	182					0	0	1	0	0	C	121476199	T	C	121476199	3	2	242	1	0	0	0	0	1	0	0	0	14988	1638	57	3	5005	3	SORL1	11	121476199	Missense_Mutation	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	1467957	121476199	13530317	635	12249											
ROBO4	54538	broad.mit.edu	37	chr11	124761327	124761327	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccagctggggtgggaggcGcctgacagctgggacctggg	5	5	21	10	1	0	1	0	1	0	0	0	3	0	3	3	7	2	2	3	7	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:124761327G>A	ENST00000306534.3	-	12	2301	c.1816C>T	c.(1816-1818)Cgc>Tgc	p.R606C	RP11-664I21.6_ENST00000524433.1_5'UTR|ROBO4_ENST00000533054.1_Missense_Mutation_p.R461C	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	606					angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GGTGGGAGGCGCCTGACAGCT	0.662													18	64					0	0	1	0	0	A	124761327	G	A	124761327	3	1	242	1	0	0	0	0	1	0	0	0	13568	1087	38	1	1235	1	ROBO4	11	124761327	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	3285128	124761327	10245189	636	12250											
KCNJ5	3762	broad.mit.edu	37	chr11	128781963	128781963	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggctttgacacgggcgaCgaccgcctcttccttgtgtc	4	11	13	13	4	1	1	0	1	1	0	3	3	2	1	3	2	0	1	3	2	0	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:128781963C>T	ENST00000529694.1	+	2	1171	c.795C>T	c.(793-795)gaC>gaT	p.D265D	KCNJ5_ENST00000338350.4_Silent_p.D265D|KCNJ5_ENST00000533599.1_Silent_p.D265D	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	265					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	ACACGGGCGACGACCGCCTCT	0.567													21	79					0	0	1	0	0	T	128781963	C	T	128781963	2	4	242	1	0	0	0	0	0	0	0	1	8098	535	19	1		1	KCNJ5	11	128781963	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	4020636	128781963	6224553	637	12251											
ADAMTS8	11095	broad.mit.edu	37	chr11	130289058	130289058	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagtgtaagccccccattgtCggacacctctgggccccatt	7	9	9	16	1	1	0	0	0	1	0	2	1	1	1	6	2	1	1	6	2	1	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:130289058C>T	ENST00000257359.6	-	2	1556	c.850G>A	c.(850-852)Gac>Aac	p.D284N		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	284	Peptidase M12B.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		CCCCCATTGTCGGACACCTCT	0.552													76	202					0	0	1	0	0	T	130289058	C	T	130289058	3	4	242	1	0	0	0	0	1	0	0	0	271	884	31	1	1851	1	ADAMTS8	11	130289058	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1507095	130289058	4717458	638	12252											
SNX19	399979	broad.mit.edu	37	chr11	130784835	130784835	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caaatctccctctacagcttCgtggccttcttcaacctctg	7	13	5	16	1	5	0	1	0	4	0	7	0	5	0	3	1	3	1	3	1	3	4	rs143532789		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:130784835C>T	ENST00000265909.4	-	1	1569	c.1000G>A	c.(1000-1002)Gaa>Aaa	p.E334K	SNX19_ENST00000528555.1_Intron|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000533214.1_Missense_Mutation_p.E334K	NM_014758.2	NP_055573.2	Q92543	SNX19_HUMAN	sorting nexin 19	334					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		TCTACAGCTTCGTGGCCTTCT	0.502													31	76					0	0	1	0	0	T	130784835	C	T	130784835	3	4	242	1	0	0	0	0	1	0	0	0	14944	893	31	1	2022	1	SNX19	11	130784835	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	495777	130784835	4221681	639	12253											
VPS26B	112936	broad.mit.edu	37	chr11	134095073	134095074	+	Frame_Shift_Del	DEL	AG	AG	-																															gaaatccttctgaacgatgcAgagagtaggaagcgggccga																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr11:134095073_134095074delAG	ENST00000281187.5	+	1	535_536	c.57_58delAG	c.(55-60)gcagfs	p.AE19fs	VPS26B_ENST00000525095.2_Frame_Shift_Del_p.AE19fs	NM_052875.3	NP_443107.1	Q4G0F5	VP26B_HUMAN	vacuolar protein sorting 26 homolog B (S. pombe)	19					protein transport|vacuolar transport	cytosol|retromer complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)	14	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)		TGAACGATGCAGAGAGTAGGAA	0.619													14	30	---	---	---	---						-	134095074	AG	-	134095073	7	5	242	1	0	1	0	1	0	0	0	0	17258	175	7	0	59	0	VPS26B	11	134095073	Frame_Shift_Del	DEL	AG	TCGA-KK-A59V-01A-11D-A29Q-08	3310238	134095073	911443	640	12254											
WNK1	65125	broad.mit.edu	37	chr12	989079	989079	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttctgcagcctgtgactcAgctgccaagtcaggttcacc	7	10	9	15	0	4	1	3	1	1	0	4	1	4	1	4	1	4	3	4	1	1	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:989079A>G	ENST00000315939.6	+	11	3357	c.2714A>G	c.(2713-2715)cAg>cGg	p.Q905R	WNK1_ENST00000537687.1_Intron|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000340908.4_Missense_Mutation_p.Q498R|WNK1_ENST00000530271.2_Missense_Mutation_p.Q1403R	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	905					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CCTGTGACTCAGCTGCCAAGT	0.542													5	100					0	0	1	0	0	G	989079	A	G	989079	3	3	242	1	0	0	0	0	1	0	0	0	17437	188	7	3	4258	3	WNK1	12	989079	Missense_Mutation	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08		989079	132862816	641	12255											
WNK1	65125	broad.mit.edu	37	chr12	1017928	1017928	+	Frame_Shift_Del	DEL	C	C	-																															ttgcagaaatccatcagcaaCcccccaggctccaacctgcg																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:1017928delC	ENST00000537687.1	+	28	8542	c.7899delC	c.(7897-7899)aafs	p.N2633fs	WNK1_ENST00000535572.1_Frame_Shift_Del_p.N2125fs|WNK1_ENST00000530271.2_Frame_Shift_Del_p.N2871fs|WNK1_ENST00000340908.4_Frame_Shift_Del_p.N1966fs|WNK1_ENST00000315939.6_Frame_Shift_Del_p.N2373fs	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	2373					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CCATCAGCAACCCCCCAGGCT	0.562													27	63	---	---	---	---						-	1017928	C	-	1017928	7	5	242	1	0	1	0	1	0	0	0	0	17437	506	18	0	8731	0	WNK1	12	1017928	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	28849	1017928	132833967	642	12256											
KCNA5	3741	broad.mit.edu	37	chr12	5154041	5154041	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcttatcttcgagtatcCggagagctctgggtccgcgc	5	11	14	11	4	2	1	0	0	2	1	5	3	4	1	2	3	1	3	2	3	2	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:5154041C>T	ENST00000252321.3	+	1	957	c.728C>T	c.(727-729)cCg>cTg	p.P243L		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	243						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						TTCGAGTATCCGGAGAGCTCT	0.587													50	132					0	0	1	0	0	T	5154041	C	T	5154041	3	4	242	1	0	0	0	0	1	0	0	0	8050	652	23	1	730	1	KCNA5	12	5154041	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	4136113	5154041	128697854	643	12257											
VWF	7450	broad.mit.edu	37	chr12	6161936	6161936	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcaggtacacctggcctttCgggcagttcagctctagaag	8	10	12	11	1	2	1	1	0	1	1	3	1	2	1	2	3	3	5	2	3	3	4	rs147033167		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:6161936C>T	ENST00000261405.5	-	16	2213	c.1959G>A	c.(1957-1959)ccG>ccA	p.P653P		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	653	TIL 2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CCTGGCCTTTCGGGCAGTTCA	0.582													9	18					0	0	1	0	0	T	6161936	C	T	6161936	2	4	242	1	0	0	0	0	0	0	0	1	17306	871	31	1		1	VWF	12	6161936	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1007895	6161936	127689959	644	12258											
CHD4	1108	broad.mit.edu	37	chr12	6701672	6701672	+	Frame_Shift_Del	DEL	T	T	-																															ggccccagcatgtcatgcagTttttttatctggtcctcctt																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:6701672delT	ENST00000309577.6	-	19	2998	c.2835delA	c.(2833-2835)aafs	p.K945fs	CHD4_ENST00000544484.1_Frame_Shift_Del_p.K942fs|CHD4_ENST00000544040.1_Frame_Shift_Del_p.K938fs|CHD4_ENST00000357008.2_Frame_Shift_Del_p.K945fs			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	945					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						TGTCATGCAGTTTTTTTATCT	0.458													36	117	---	---	---	---						-	6701672	T	-	6701672	7	5	242	1	0	1	0	1	0	0	0	0	3349	1722	60	0	2991	0	CHD4	12	6701672	Frame_Shift_Del	DEL	T	TCGA-KK-A59V-01A-11D-A29Q-08	539736	6701672	127150223	645	12259											
C3AR1	719	broad.mit.edu	37	chr12	8212678	8212678	+	Frame_Shift_Del	DEL	A	A	-																															cattgcctggcaatcccagtAaaaaagtaaggctgagaatg																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:8212678delA	ENST00000307637.4	-	2	307	c.104delT	c.(103-105)tafs	p.L36fs		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	36					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		CAATCCCAGTAAAAAAGTAAG	0.527													32	97	---	---	---	---						-	8212678	A	-	8212678	7	5	242	1	0	1	0	1	0	0	0	0	2219	372	13	0	1348	0	C3AR1	12	8212678	Frame_Shift_Del	DEL	A	TCGA-KK-A59V-01A-11D-A29Q-08	1511006	8212678	125639217	646	12260											
FAM90A1	55138	broad.mit.edu	37	chr12	8375299	8375299	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggagcccctgtcagacatttCggtagctgagcgatcagaga	10	8	13	10	2	2	3	2	1	0	2	3	6	2	4	2	2	3	2	2	2	1	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:8375299C>T	ENST00000538603.1	-	7	1072	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K	FAM90A1_ENST00000307435.6_Missense_Mutation_p.E172K	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	172							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		TCAGACATTTCGGTAGCTGAG	0.552													20	58					0	0	1	0	0	T	8375299	C	T	8375299	3	4	242	1	0	0	0	0	1	0	0	0	5681	893	31	1	884	1	FAM90A1	12	8375299	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	162621	8375299	125476596	647	12261											
A2M	2	broad.mit.edu	37	chr12	9227323	9227323	+	Frame_Shift_Del	DEL	A	A	-																															agagggagcctggggttcgtAaaaatgccccactggtgcct																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:9227323delA	ENST00000318602.7	-	29	3896	c.3589delT	c.(3589-3591)acfs	p.Y1197fs		NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1197					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	TGGGGTTCGTAAAAATGCCCC	0.512													7	36	---	---	---	---						-	9227323	A	-	9227323	7	5	242	1	0	1	0	1	0	0	0	0	4	362	13	0	867	0	A2M	12	9227323	Frame_Shift_Del	DEL	A	TCGA-KK-A59V-01A-11D-A29Q-08	852024	9227323	124624572	648	12262											
TAS2R46	259292	broad.mit.edu	37	chr12	11214013	11214013	+	Frame_Shift_Del	DEL	A	A	-																															cccagtacctcacatgccacAaaactgaaagaaaagtctgc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:11214013delA	ENST00000533467.1	-	1	880	c.881delT	c.(880-882)tgfs	p.L294fs	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	taste receptor, type 2, member 46	294					sensory perception of taste	cilium membrane|integral to membrane	G-protein coupled receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		CACATGCCACAAAACTGAAAG	0.413													12	273	---	---	---	---						-	11214013	A	-	11214013	7	5	242	1	0	1	0	1	0	0	0	0	15639	131	5	0	52	0	TAS2R46	12	11214013	Frame_Shift_Del	DEL	A	TCGA-KK-A59V-01A-11D-A29Q-08	1986690	11214013	122637882	649	12263											
CREBL2	1389	broad.mit.edu	37	chr12	12788823	12788823	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcaagagaatgccgagcccGaaaaaagctgagatatcagt	16	6	11	8	2	1	2	1	1	0	2	1	6	1	2	2	0	4	2	2	0	6	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:12788823G>A	ENST00000228865.2	+	2	409	c.128G>A	c.(127-129)cGa>cAa	p.R43Q	CREBL2_ENST00000540224.1_3'UTR	NM_001310.2	NP_001301.1	O60519	CRBL2_HUMAN	cAMP responsive element binding protein-like 2	43					cell cycle|signal transduction	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)	1		Prostate(47;0.0684)		BRCA - Breast invasive adenocarcinoma(232;0.0503)		TGCCGAGCCCGAAAAAAGCTG	0.463													13	31					0	0	1	0	0	A	12788823	G	A	12788823	3	1	242	1	0	0	0	0	1	0	0	0	3885	1058	37	1	134	1	CREBL2	12	12788823	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1574810	12788823	121063072	650	12264											
CDKN1B	1027	broad.mit.edu	37	chr12	12870961	12870962	+	Frame_Shift_Ins	INS	-	-	T																															cagcgcaagtggaatttcgaINSttttcagaatcacaaacccc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:12870961_12870962insT	ENST00000228872.4	+	1	904_905	c.188_189insT	c.(187-189)gttfs	p.V63fs	CDKN1B_ENST00000396340.1_Frame_Shift_Ins_p.V63fs|CDKN1B_ENST00000477087.1_Intron	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)	63					autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		TGGAATTTCGATTTTCAGAATC	0.574													38	138	---	---	---	---						T	12870962	-	T	12870961	7	5	242	1	0	1	1	0	0	0	0	0	3181	333	12	0	190	0	CDKN1B	12	12870961	Frame_Shift_Ins	INS	-	TCGA-KK-A59V-01A-11D-A29Q-08	82138	12870961	120980934	651	12265											
GUCY2C	2984	broad.mit.edu	37	chr12	14781608	14781608	+	Frame_Shift_Del	DEL	T	T	-																															cttggcaagtgtagtctcaaTttttttgaaatctggtctct																								rs145875994		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:14781608delT	ENST00000261170.3	-	20	2357	c.2221delA	c.(2221-2223)ttfs	p.I741fs		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	741	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						GTAGTCTCAATTTTTTTGAAA	0.348													33	66	---	---	---	---						-	14781608	T	-	14781608	7	5	242	1	0	1	0	1	0	0	0	0	6937	1493	52	0	1032	0	GUCY2C	12	14781608	Frame_Shift_Del	DEL	T	TCGA-KK-A59V-01A-11D-A29Q-08	1910647	14781608	119070287	652	12266											
H2AFJ	55766	broad.mit.edu	37	chr12	14927707	14927707	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacaagctgctgggcaaagtGaccatcgctcagggcggcgt	10	6	14	11	3	1	1	1	1	0	0	2	1	1	1	1	3	3	4	1	3	3	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:14927707G>A	ENST00000544848.1	+	1	438	c.303G>A	c.(301-303)gtG>gtA	p.V101V		NM_177925.2	NP_808760.1	Q9BTM1	H2AJ_HUMAN	H2A histone family, member J	101					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|central_nervous_system(1)|kidney(1)|ovary(1)|skin(1)	5						TGGGCAAAGTGACCATCGCTC	0.607													5	152					0	0	1	0	0	A	14927707	G	A	14927707	2	1	242	1	0	0	0	0	0	0	0	1	6967	1277	45	2		2	H2AFJ	12	14927707	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	146099	14927707	118924188	653	12267											
MGP	4256	broad.mit.edu	37	chr12	15035143	15035143	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atccataaaccatggcgtagCgttcgcaaagtctgtagtca	12	10	9	10	3	2	0	1	0	1	0	4	0	3	0	2	1	2	4	2	1	5	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:15035143C>T	ENST00000539261.1	-	4	376	c.242G>A	c.(241-243)cGc>cAc	p.R81H	MGP_ENST00000228938.5_Missense_Mutation_p.R106H|C12orf60_ENST00000527783.1_Intron	NM_000900.3	NP_000891.2	P08493	MGP_HUMAN	matrix Gla protein	81	Gla.				cartilage condensation|cell differentiation|ossification|regulation of bone mineralization	proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent|structural constituent of bone			large_intestine(1)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	7						CATGGCGTAGCGTTCGCAAAG	0.463													13	208					0	0	1	0	0	T	15035143	C	T	15035143	3	4	242	1	0	0	0	0	1	0	0	0	9607	768	27	1	73	1	MGP	12	15035143	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	107436	15035143	118816752	654	12268											
AEBP2	121536	broad.mit.edu	37	chr12	19653128	19653128	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catatagaaagtttagggaaGggacacagtgttgtttttca	13	13	11	4	0	1	1	1	0	0	1	1	3	1	3	0	2	0	3	0	2	5	7			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:19653128G>T	ENST00000266508.9	+	5	1273	c.1272G>T	c.(1270-1272)aaG>aaT	p.K424N	AEBP2_ENST00000541908.1_Missense_Mutation_p.K195N|AEBP2_ENST00000360995.4_Missense_Mutation_p.K208N|AEBP2_ENST00000398864.3_Missense_Mutation_p.K424N	NM_153207.4	NP_694939.2	Q6ZN18	AEBP2_HUMAN	AE binding protein 2	424	Interaction with SUZ12.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)					GTTTAGGGAAGGGACACAGTG	0.328													3	5					0.004672	0.00472882	1	1	0	T	19653128	G	T	19653128	3	4	242	1	0	0	0	0	1	0	0	0	349	991	35	4	1290	4	AEBP2	12	19653128	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	4617985	19653128	114198767	655	12269											
C12orf77	196415	broad.mit.edu	37	chr12	25149160	25149160	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgtaagcgtataatttgtCagacgggcaatatggtctag	12	12	12	5	2	2	1	1	0	1	1	2	2	2	1	0	2	1	3	0	2	6	6			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:25149160C>T	ENST00000549828.1	-	2	321	c.117G>A	c.(115-117)ctG>ctA	p.L39L	C12orf77_ENST00000434912.3_5'UTR|C12orf77_ENST00000549262.1_5'UTR	NM_001101339.1	NP_001094809.1	C9JDV5	CL097_HUMAN	chromosome 12 open reading frame 77	39										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						TATAATTTGTCAGACGGGCAA	0.423													4	106					0	0	1	0	0	T	25149160	C	T	25149160	2	4	242	1	0	0	0	0	0	0	0	1	1722	813	29	2		2	C12orf77	12	25149160	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	5496032	25149160	108702735	656	12270											
PTHLH	5744	broad.mit.edu	37	chr12	28122931	28122932	+	Translation_Start_Site	INS	-	-	AT																															ccacttgtagcgaaacccacINSatatatatacatagctgtct																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:28122931_28122932insAT	ENST00000395868.3	-	0	48_49				PTHLH_ENST00000545234.1_Intron|PTHLH_ENST00000201015.4_Intron|PTHLH_ENST00000354417.3_Intron|PTHLH_ENST00000395872.1_Intron|PTHLH_ENST00000535992.1_Intron	NM_198964.1	NP_945315.1	P12272	PTHR_HUMAN	parathyroid hormone-like hormone						activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation	cytoplasm|extracellular space|nucleus	hormone activity|peptide hormone receptor binding			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	10	Lung SC(9;0.184)					GCGAAACCCACATATATATACA	0.5													52	155	---	---	---	---						AT	28122932	-	AT	28122931	6	5	242	1	0	1	1	0	0	0	0	0	12811	493	17	0		0	PTHLH	12	28122931	Translation_Start_Site	INS	-	TCGA-KK-A59V-01A-11D-A29Q-08	2973771	28122931	105728964	657	12271											
OVCH1	341350	broad.mit.edu	37	chr12	29630469	29630469	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagtggtggaaacttacaCgtttgttttgttttccatcg	10	16	9	6	2	0	0	0	0	0	0	2	1	1	1	1	2	2	3	1	2	4	6			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:29630469C>T	ENST00000318184.5	-	10	1111	c.1113_splice	c.e10+1	p.R371_splice	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	371	CUB 1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					GAAACTTACACGTTTGTTTTG	0.368													15	42					0	0	1	0	0	T	29630469	C	T	29630469	5	4	242	1	0	0	0	0	0	0	1	0	11370	550	19	1	2368	1	OVCH1	12	29630469	Splice_Site	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1507538	29630469	104221426	658	12272											
TSPAN11	441631	broad.mit.edu	37	chr12	31135554	31135554	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgagggccgccaggtgcccGacagctgctgcaagacagtg	8	4	15	14	3	0	1	0	0	0	1	0	3	0	1	4	2	4	3	4	2	1	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:31135554G>A	ENST00000261177.9	+	6	603	c.544G>A	c.(544-546)Gac>Aac	p.D182N	TSPAN11_ENST00000544427.1_Missense_Mutation_p.D172N|TSPAN11_ENST00000546076.1_Missense_Mutation_p.D182N|TSPAN11_ENST00000535215.1_Missense_Mutation_p.D111N	NM_001080509.2	NP_001073978.1	A1L157	TSN11_HUMAN	tetraspanin 11	182						integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)	11	all_lung(12;3.11e-10)|Lung NSC(12;5.24e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CCAGGTGCCCGACAGCTGCTG	0.637													7	23					0	0	1	0	0	A	31135554	G	A	31135554	3	1	242	1	0	0	0	0	1	0	0	0	16696	1058	37	1	562	1	TSPAN11	12	31135554	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1505085	31135554	102716341	659	12273											
YARS2	51067	broad.mit.edu	37	chr12	32902905	32902905	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggaatggcatttgctttgcGgcaagtatctaggacacttg	9	13	12	7	1	1	0	0	0	1	0	1	2	1	2	0	4	2	4	0	4	4	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:32902905G>A	ENST00000324868.8	-	4	1267	c.1240C>T	c.(1240-1242)Cgc>Tgc	p.R414C	YARS2_ENST00000551673.1_5'UTR	NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	414					tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	TTTGCTTTGCGGCAAGTATCT	0.388													32	85					0	0	1	0	0	A	32902905	G	A	32902905	3	1	242	1	0	0	0	0	1	0	0	0	17528	1116	39	1	201	1	YARS2	12	32902905	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1767351	32902905	100948990	660	12274											
ADCY6	112	broad.mit.edu	37	chr12	49170939	49170939	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacacagcagtgggcatggtCggcccgggcctccggcagcc	6	4	15	16	3	0	0	0	0	0	0	2	0	1	0	4	5	2	3	4	5	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:49170939C>T	ENST00000307885.4	-	5	2018	c.1324G>A	c.(1324-1326)Gac>Aac	p.D442N	ADCY6_ENST00000550422.1_Missense_Mutation_p.D442N|ADCY6_ENST00000357869.3_Missense_Mutation_p.D442N	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	442					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						TGGGCATGGTCGGCCCGGGCC	0.577													60	153					0	0	1	0	0	T	49170939	C	T	49170939	3	4	242	1	0	0	0	0	1	0	0	0	297	884	31	1	2250	1	ADCY6	12	49170939	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	16268034	49170939	84680956	661	12275											
FAM186B	84070	broad.mit.edu	37	chr12	49998227	49998227	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gatctctctgctgagatttgGcattttcttttaaatcatat	9	19	6	7	0	4	1	1	1	3	1	5	3	4	1	0	1	1	2	0	1	3	6			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:49998227G>A	ENST00000257894.2	-	2	352	c.191C>T	c.(190-192)gCc>gTc	p.A64V	FAM186B_ENST00000551047.1_Missense_Mutation_p.A64V|FAM186B_ENST00000544141.1_5'UTR|PRPF40B_ENST00000508736.1_3'UTR	NM_032130.2	NP_115506.1	Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	64						protein complex				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CTGAGATTTGGCATTTTCTTT	0.403													8	71					0	0	1	0	0	A	49998227	G	A	49998227	3	1	242	1	0	0	0	0	1	0	0	0	5543	1203	42	2	2514	2	FAM186B	12	49998227	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	827288	49998227	83853668	662	12276											
FAM186B	84070	broad.mit.edu	37	chr12	49999241	49999241	+	Frame_Shift_Del	DEL	G	G	-																															atgtgggagtcaccaactgtGgggggtcatccttctccatt																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:49999241delG	ENST00000257894.2	-	1	181	c.20delC	c.(19-21)cafs	p.P7fs	FAM186B_ENST00000544141.1_5'UTR|FAM186B_ENST00000551047.1_Frame_Shift_Del_p.P7fs	NM_032130.2	NP_115506.1	Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	7						protein complex				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CACCAACTGTGGGGGGTCATC	0.522													8	28	---	---	---	---						-	49999241	G	-	49999241	7	5	242	1	0	1	0	1	0	0	0	0	5543	1348	47	0	2689	0	FAM186B	12	49999241	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	1014	49999241	83852654	663	12277											
SCN8A	6334	broad.mit.edu	37	chr12	52184185	52184185	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcttccctcctttacttcGgaggtcaggacatcttcatg	6	15	7	13	1	4	0	2	0	2	0	7	2	6	2	2	3	1	0	2	3	1	6			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:52184185G>A	ENST00000354534.5	+	25	4601	c.4423G>A	c.(4423-4425)Gga>Aga	p.G1475R	SCN8A_ENST00000545061.1_Missense_Mutation_p.G1434R	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1475					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	CCTTTACTTCGGAGGTCAGGA	0.463													5	14					0	0	1	0	0	A	52184185	G	A	52184185	3	1	242	1	0	0	0	0	1	0	0	0	13978	1117	39	1	4517	1	SCN8A	12	52184185	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	2184944	52184185	81667710	664	12278											
KRT81	3887	broad.mit.edu	37	chr12	52681014	52681014	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttggccttctgcagggcGccctccagctcggccagctt	3	10	12	16	2	1	0	0	0	1	0	3	0	2	0	4	3	4	4	4	3	0	3	rs140192619		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:52681014G>A	ENST00000327741.5	-	7	1187	c.1119C>T	c.(1117-1119)ggC>ggT	p.G373G	KRT86_ENST00000423955.2_Intron|KRT86_ENST00000544024.1_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81	373	Coil 2.|Rod.					keratin filament	protein binding|structural molecule activity			breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCTGCAGGGCGCCCTCCAGCT	0.642													21	87					0	0	1	0	0	A	52681014	G	A	52681014	2	1	242	1	0	0	0	0	0	0	0	1	8538	1074	38	1		1	KRT81	12	52681014	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	496829	52681014	81170881	665	12279											
KRT6A	3853	broad.mit.edu	37	chr12	52882150	52882150	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcagcttgcggtaggtggcGatctccacgtccagggccag	7	7	15	12	3	1	0	0	0	1	0	3	1	2	0	3	4	3	3	3	4	1	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:52882150G>A	ENST00000330722.6	-	7	1454	c.1386C>T	c.(1384-1386)atC>atT	p.I462I		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	462	Coil 2.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		GGTAGGTGGCGATCTCCACGT	0.597													35	128					0	0	1	0	0	A	52882150	G	A	52882150	2	1	242	1	0	0	0	0	0	0	0	1	8523	1048	37	1		1	KRT6A	12	52882150	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	201136	52882150	80969745	666	12280											
KRT78	196374	broad.mit.edu	37	chr12	53242577	53242577	+	Frame_Shift_Del	DEL	C	C	-																															ccacgagagccttccaggcaCcccccaaaggaattaaggct																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:53242577delC	ENST00000304620.4	-	1	201	c.138delG	c.(136-138)ggfs	p.G46fs		NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	46	Gly-rich.|Head.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CTTCCAGGCACCCCCCAAAGG	0.677													10	33	---	---	---	---						-	53242577	C	-	53242577	7	5	242	1	0	1	0	1	0	0	0	0	8534	494	18	0	1460	0	KRT78	12	53242577	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	360427	53242577	80609318	667	12281											
HOXC10	3226	broad.mit.edu	37	chr12	54379096	54379096	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtacgcggagcccttggctgCgcccggcggaggagagcgct	5	5	18	13	6	0	1	0	0	0	1	0	4	0	3	2	5	4	3	2	5	1	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:54379096C>T	ENST00000303460.4	+	1	127	c.53C>T	c.(52-54)gCg>gTg	p.A18V	HOXC-AS3_ENST00000514702.1_RNA	NM_017409.3	NP_059105.2	Q9NYD6	HXC10_HUMAN	homeobox C10	18					positive regulation of cell proliferation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(14)|pancreas(1)	20						CCCTTGGCTGCGCCCGGCGGA	0.597													44	130					0	0	1	0	0	T	54379096	C	T	54379096	3	4	242	1	0	0	0	0	1	0	0	0	7350	768	27	1	55	1	HOXC10	12	54379096	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1136519	54379096	79472799	668	12282											
OR6C65	403282	broad.mit.edu	37	chr12	55795222	55795222	+	Frame_Shift_Del	DEL	A	A	-																															aggcccttagggaattcaccAaaaaaatattatcattgaac																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:55795222delA	ENST00000379665.2	+	1	1009	c.910delA	c.(910-912)aafs	p.K305fs		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						GGAATTCACCAAAAAAATATT	0.353													7	31	---	---	---	---						-	55795222	A	-	55795222	7	5	242	1	0	1	0	1	0	0	0	0	11242	131	5	0	912	0	OR6C65	12	55795222	Frame_Shift_Del	DEL	A	TCGA-KK-A59V-01A-11D-A29Q-08	1416126	55795222	78056673	669	12283											
PAN2	9924	broad.mit.edu	37	chr12	56721408	56721408	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaagtacggaggtctctcAgggaaacctagaaaaaaaaa	20	6	9	6	1	2	1	1	0	1	1	3	3	2	3	1	3	2	1	1	3	9	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:56721408A>G	ENST00000425394.2	-	6	1035	c.659T>C	c.(658-660)cTg>cCg	p.L220P	PAN2_ENST00000257931.5_Missense_Mutation_p.L220P|PAN2_ENST00000440411.3_Missense_Mutation_p.L220P|PAN2_ENST00000548043.1_Missense_Mutation_p.L220P	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	220					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						GAGGTCTCTCAGGGAAACCTA	0.453													21	59					0	0	1	0	0	G	56721408	A	G	56721408	3	3	242	1	0	0	0	0	1	0	0	0	11461	188	7	3	3033	3	PAN2	12	56721408	Missense_Mutation	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	926186	56721408	77130487	670	12284											
AVPR1A	0	broad.mit.edu	37	chr12	63543657	63543657	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggcacgtaccggtccagacGgacatgggatcccagacaga	11	4	13	13	4	0	3	0	0	0	3	2	5	2	5	3	4	1	2	3	4	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:63543657G>A	ENST00000299178.2	-	1	1065	c.960C>T	c.(958-960)tcC>tcT	p.S320S		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	320					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	CGGTCCAGACGGACATGGGAT	0.532													31	76					0	0	1	0	0	A	63543657	G	A	63543657	2	1	242	1	0	0	0	0	0	0	0	1	1229	1103	39	1		1	AVPR1A	12	63543657	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	6822249	63543657	70308238	671	12285											
GRIP1	23426	broad.mit.edu	37	chr12	66990669	66990669	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agccaacgctccatcaggcgGctttgtctggctggcggatt	6	10	13	12	3	2	0	1	0	1	0	3	1	3	1	2	5	2	3	2	5	1	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:66990669G>A	ENST00000359742.4	-	2	334	c.94C>T	c.(94-96)Ccg>Tcg	p.P32S	GRIP1_ENST00000286445.7_Missense_Mutation_p.P32S|GRIP1_ENST00000398016.3_Missense_Mutation_p.P32S			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	32					androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		CCATCAGGCGGCTTTGTCTGG	0.448													4	77					0	0	1	0	0	A	66990669	G	A	66990669	3	1	242	1	0	0	0	0	1	0	0	0	6828	1203	42	2	3228	2	GRIP1	12	66990669	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	3447012	66990669	66861226	672	12286											
MDM2	4193	broad.mit.edu	37	chr12	69233090	69233090	+	Frame_Shift_Del	DEL	C	C	-																															cttcatgcaatgaaatgaatCccccccttccatcacattgc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:69233090delC	ENST00000462284.1	+	11	1257	c.955delC	c.(955-957)ccfs	p.P320fs	MDM2_ENST00000545204.1_Intron|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000540827.1_Frame_Shift_Del_p.P119fs|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000478070.1_3'UTR|MDM2_ENST00000428863.2_Frame_Shift_Del_p.P93fs|MDM2_ENST00000393410.1_Frame_Shift_Del_p.P66fs|MDM2_ENST00000393412.3_Frame_Shift_Del_p.P41fs|MDM2_ENST00000393413.3_Frame_Shift_Del_p.P41fs|MDM2_ENST00000360430.2_Frame_Shift_Del_p.P119fs|MDM2_ENST00000356290.4_Frame_Shift_Del_p.P144fs|MDM2_ENST00000350057.5_Frame_Shift_Del_p.P289fs|MDM2_ENST00000348801.2_Frame_Shift_Del_p.P88fs|MDM2_ENST00000299252.4_Frame_Shift_Del_p.P144fs|MDM2_ENST00000258148.7_Frame_Shift_Del_p.P265fs|MDM2_ENST00000258149.5_Frame_Shift_Del_p.P259fs	NM_002392.4	NP_002383.2	Q00987	MDM2_HUMAN	MDM2 oncogene, E3 ubiquitin protein ligase	314	Necessary for interaction with USP2.|Region II.				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			TGAAATGAATCCCCCCCTTCC	0.428			A		"sarcoma, glioma, colorectal, other"								31	94	---	---	---	---						-	69233090	C	-	69233090	7	5	242	1	0	1	0	1	0	0	0	0	9463	855	30	0	997	0	MDM2	12	69233090	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	2242421	69233090	64618805	673	12287											
CPSF6	11052	broad.mit.edu	37	chr12	69651670	69651670	+	Frame_Shift_Del	DEL	C	C	-																															cagcaggaccaggagggccaCccccaccttttccaggtaaa																								rs61754516		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:69651670delC	ENST00000435070.2	+	5	789	c.679delC	c.(679-681)ccfs	p.P229fs	CPSF6_ENST00000266679.8_Frame_Shift_Del_p.P229fs|CPSF6_ENST00000456847.3_Intron|CPSF6_ENST00000551516.1_Intron	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	229	Pro-rich.				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			AGGAGGGCCACCCCCACCTTT	0.483													31	84	---	---	---	---						-	69651670	C	-	69651670	7	5	242	1	0	1	0	1	0	0	0	0	3852	507	18	0	697	0	CPSF6	12	69651670	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	418580	69651670	64200225	674	12288											
TRHDE	29953	broad.mit.edu	37	chr12	73056913	73056913	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaactgtcgaagccaatgtgCgctggaaaatgctttaccaa	14	9	9	9	2	0	0	0	0	0	0	1	2	0	1	2	1	5	2	2	1	7	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:73056913C>T	ENST00000261180.4	+	19	3109	c.3013C>T	c.(3013-3015)Cgc>Tgc	p.R1005C		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	1005					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						AGCCAATGTGCGCTGGAAAAT	0.383													15	36					0	0	1	0	0	T	73056913	C	T	73056913	3	4	242	1	0	0	0	0	1	0	0	0	16540	768	27	1	3087	1	TRHDE	12	73056913	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	3405243	73056913	60794982	675	12289											
DUSP6	1848	broad.mit.edu	37	chr12	89744489	89744489	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcggcaaattgggggtgacGttcaagatgtacttgatgcc	9	12	13	7	2	1	3	1	2	0	1	2	3	1	3	1	3	2	3	1	3	3	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:89744489G>A	ENST00000279488.7	-	2	1945	c.714C>T	c.(712-714)aaC>aaT	p.N238N	DUSP6_ENST00000547140.1_5'UTR|DUSP6_ENST00000547291.1_Silent_p.N113N|DUSP6_ENST00000308385.6_Intron	NM_001946.2	NP_001937.2	Q16828	DUS6_HUMAN	dual specificity phosphatase 6	238	Tyrosine-protein phosphatase.				dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			large_intestine(5)|lung(8)|skin(2)|urinary_tract(1)	16						TGGGGGTGACGTTCAAGATGT	0.493													8	216					0	0	1	0	0	A	89744489	G	A	89744489	2	1	242	1	0	0	0	0	0	0	0	1	4855	1136	40	1		1	DUSP6	12	89744489	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	16687576	89744489	44107406	676	12290											
IKBIP	121457	broad.mit.edu	37	chr12	99020465	99020465	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catgcatgatatcttggaggTtggatacttcctgctcaaac	10	13	9	9	0	2	1	1	1	1	0	3	3	3	3	1	3	4	3	1	3	3	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:99020465T>C	ENST00000299157.4	-	3	750	c.377A>G	c.(376-378)aAc>aGc	p.N126S	IKBIP_ENST00000420861.1_Intron|IKBIP_ENST00000393042.3_Intron|IKBIP_ENST00000342502.2_Intron	NM_153687.3	NP_710154.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein	128					induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding			NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						ATCTTGGAGGTTGGATACTTC	0.393													22	52					0	0	1	0	0	C	99020465	T	C	99020465	3	2	242	1	0	0	0	0	1	0	0	0	7653	1725	60	3	1520	3	IKBIP	12	99020465	Missense_Mutation	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	9275976	99020465	34831430	677	12291											
SYCP3	50511	broad.mit.edu	37	chr12	102125434	102125434	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaagaatcttttgttgctgtCgaaacatattctacaaatat	14	15	6	6	1	2	1	0	0	2	1	3	3	2	1	0	0	3	2	0	0	7	7			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:102125434C>T	ENST00000392927.3	-	7	595	c.464G>A	c.(463-465)cGa>cAa	p.R155Q	SYCP3_ENST00000392924.1_Missense_Mutation_p.R155Q|SYCP3_ENST00000266743.2_Missense_Mutation_p.R155Q	NM_001177948.1|NM_001177949.1|NM_153694.4	NP_001171419.1|NP_001171420.1|NP_710161.1	Q8IZU3	SYCP3_HUMAN	synaptonemal complex protein 3	155	Gln-rich.				cell division|male meiosis I|spermatogenesis, exchange of chromosomal proteins	nucleus	DNA binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						TTGTTGCTGTCGAAACATATT	0.249													3	18					0	0	1	0	0	T	102125434	C	T	102125434	3	4	242	1	0	0	0	0	1	0	0	0	15491	884	31	1	258	1	SYCP3	12	102125434	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	3104969	102125434	31726461	678	12292											
USP30	84749	broad.mit.edu	37	chr12	109522826	109522826	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctgctccccatctttattgCcaacgctgtcagcgccgatg	6	11	8	16	3	2	0	1	0	1	0	3	1	3	0	5	0	4	2	5	0	2	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:109522826C>T	ENST00000257548.5	+	12	1330	c.1237C>T	c.(1237-1239)Cca>Tca	p.P413S	USP30_ENST00000392784.2_Missense_Mutation_p.P382S	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	413					ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						ATCTTTATTGCCAACGCTGTC	0.522													16	360					0	0	1	0	0	T	109522826	C	T	109522826	3	4	242	1	0	0	0	0	1	0	0	0	17121	739	26	2	1283	2	USP30	12	109522826	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	7397392	109522826	24329069	679	12293											
DTX1	1840	broad.mit.edu	37	chr12	113534571	113534571	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagactcatcttcactatcGgcacgtccaacaccacgggc	11	7	8	15	3	3	1	2	0	1	1	5	2	4	1	2	2	1	1	2	2	3	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:113534571G>A	ENST00000257600.3	+	9	2193	c.1690G>A	c.(1690-1692)Ggc>Agc	p.G564S	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	564					negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						CTTCACTATCGGCACGTCCAA	0.632													9	24					0	0	1	0	0	A	113534571	G	A	113534571	3	1	242	1	0	0	0	0	1	0	0	0	4819	1116	39	1	1724	1	DTX1	12	113534571	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	4011745	113534571	20317324	680	12294											
SDSL	113675	broad.mit.edu	37	chr12	113875851	113875851	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacatcaacagccgagagctGcaggctttgaaaacccacct	14	6	8	13	1	1	2	1	1	0	1	1	3	1	2	3	1	6	3	3	1	4	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:113875851G>A	ENST00000403593.4	+	8	1219	c.957G>A	c.(955-957)ctG>ctA	p.L319L	SDSL_ENST00000345635.4_Silent_p.L319L			Q96GA7	SDSL_HUMAN	serine dehydratase-like	319					cellular amino acid metabolic process		L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15					Pyridoxal Phosphate(DB00114)	GCCGAGAGCTGCAGGCTTTGA	0.622													5	233					0	0	1	0	0	A	113875851	G	A	113875851	2	1	242	1	0	0	0	0	0	0	0	1	14030	1306	46	2		2	SDSL	12	113875851	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	341280	113875851	19976044	681	12295											
KSR2	283455	broad.mit.edu	37	chr12	118199031	118199031	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcgcggcggggtgcggacCgcgtgccgctgccggggcga	2	4	22	13	9	0	0	0	0	0	0	0	2	0	1	3	6	4	1	3	6	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:118199031C>T	ENST00000425217.1	-	4	738	c.684G>A	c.(682-684)gcG>gcA	p.A228A	KSR2_ENST00000339824.5_Silent_p.A257A	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	257	Pro-rich.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGGTGCGGACCGCGTGCCGCT	0.736													63	148					0	0	1	0	0	T	118199031	C	T	118199031	2	4	242	1	0	0	0	0	0	0	0	1	8621	639	23	1		1	KSR2	12	118199031	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	4323180	118199031	15652864	682	12296											
CIT	11113	broad.mit.edu	37	chr12	120156517	120156517	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccctaccttcctcccgggcGgaccggagctcgatgcgggt	4	7	13	17	5	0	0	0	0	0	0	3	3	2	2	6	4	3	1	6	4	1	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:120156517G>A	ENST00000392521.2	-	31	4045	c.3990C>T	c.(3988-3990)tcC>tcT	p.S1330S	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Silent_p.S1288S	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	1288					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CCTCCCGGGCGGACCGGAGCT	0.552													5	149					0	0	1	0	0	A	120156517	G	A	120156517	2	1	242	1	0	0	0	0	0	0	0	1	3461	1103	39	1		1	CIT	12	120156517	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1957486	120156517	13695378	683	12297											
TMEM120B	144404	broad.mit.edu	37	chr12	122213655	122213655	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctcctgtgccctcggcccGgacttcagactgcagggggc	4	7	15	15	2	1	1	1	0	0	1	3	2	2	2	3	5	2	2	3	5	0	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:122213655G>A	ENST00000540377.1	+	6	553	c.157G>A	c.(157-159)Gga>Aga	p.G53R	TMEM120B_ENST00000449592.2_3'UTR			A0PK00	T120B_HUMAN	transmembrane protein 120B	0						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)		CCCTCGGCCCGGACTTCAGAC	0.667											OREG0022207	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	29					0	0	1	0	0	A	122213655	G	A	122213655	3	1	242	1	0	0	0	0	1	0	0	0	16094	1131	39	1		1	TMEM120B	12	122213655	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	2057138	122213655	11638240	684	12298											
WDR66	144406	broad.mit.edu	37	chr12	122359385	122359385	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaggagaggaaaacgggCgaggaggaaggggaggagga	15	0	24	2	2	0	1	0	0	0	1	0	11	0	8	0	10	1	0	0	10	3	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:122359385C>T	ENST00000288912.4	+	2	1028	c.174C>T	c.(172-174)ggC>ggT	p.G58G	WDR66_ENST00000397454.2_Silent_p.G58G	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	58	Glu-rich.						calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		ggaaaacgggcgaggaggaag	0.463													10	21					0	0	1	0	0	T	122359385	C	T	122359385	2	4	242	1	0	0	0	0	0	0	0	1	17377	755	27	1		1	WDR66	12	122359385	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	145730	122359385	11492510	685	12299											
DNAH10	196385	broad.mit.edu	37	chr12	124317860	124317860	+	Frame_Shift_Del	DEL	A	A	-																															gcaaactgttcacaaatgggAaaaaacgctttctctaatag																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:124317860delA	ENST00000409039.3	+	26	4416	c.4391delA	c.(4390-4392)gafs	p.E1464fs		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1464	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CACAAATGGGAAAAAACGCTT	0.413													11	19	---	---	---	---						-	124317860	A	-	124317860	7	5	242	1	0	1	0	1	0	0	0	0	4626	246	9	0	4493	0	DNAH10	12	124317860	Frame_Shift_Del	DEL	A	TCGA-KK-A59V-01A-11D-A29Q-08	1958475	124317860	9534035	686	12300											
DNAH10	196385	broad.mit.edu	37	chr12	124416490	124416490	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcttgattctaaataggcCttggctggagaagttggaat	10	13	12	6	0	2	2	0	1	2	1	2	4	2	3	1	4	0	3	1	4	5	6			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:124416490C>A	ENST00000409039.3	+	75	12802	c.12777C>A	c.(12775-12777)gcC>gcA	p.A4259A	CCDC92_ENST00000544798.1_Intron|DNAH10OS_ENST00000514254.2_Intron|DNAH10_ENST00000538983.1_3'UTR	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4259					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CTAAATAGGCCTTGGCTGGAG	0.483													6	81					0.217242	0.217443	1	1	0	A	124416490	C	A	124416490	2	1	242	1	0	0	0	0	0	0	0	1	4626	668	24	4		4	DNAH10	12	124416490	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	98630	124416490	9435405	687	12301											
NCOR2	9612	broad.mit.edu	37	chr12	124824936	124824936	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgctctcgatcccggtctcGctcccgctcggacgaggacg	4	7	12	18	8	2	0	0	0	2	0	7	4	4	2	3	3	0	3	3	3	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:124824936G>A	ENST00000356219.3	-	37	5568	c.5413C>T	c.(5413-5415)Cga>Tga	p.R1805*	NCOR2_ENST00000397355.1_Nonsense_Mutation_p.R1789*|NCOR2_ENST00000429285.2_Nonsense_Mutation_p.R1788*|NCOR2_ENST00000405201.1_Nonsense_Mutation_p.R1798*|NCOR2_ENST00000404621.1_Nonsense_Mutation_p.R1788*|NCOR2_ENST00000404121.2_Nonsense_Mutation_p.R1359*	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1806					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TCCCGGTCTCGCTCCCGCTCG	0.622													16	44					0	0	1	0	0	A	124824936	G	A	124824936	4	1	242	1	0	0	0	0	0	1	0	0	10283	1095	38	1	2200	1	NCOR2	12	124824936	Nonsense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	408446	124824936	9026959	688	12302											
TMEM132D	121256	broad.mit.edu	37	chr12	130184705	130184705	+	Frame_Shift_Del	DEL	G	G	-																															ctcctcccggcaaccaccgtGggggggctgaaccagctgga																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:130184705delG	ENST00000422113.2	-	2	944	c.618delC	c.(616-618)ccfs	p.P206fs		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	206						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CAACCACCGTGGGGGGGCTGA	0.711													13	54	---	---	---	---						-	130184705	G	-	130184705	7	5	242	1	0	1	0	1	0	0	0	0	16107	1335	47	0	2713	0	TMEM132D	12	130184705	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	5359769	130184705	3667190	689	12303											
FZD10	11211	broad.mit.edu	37	chr12	130648819	130648819	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagaagctcatggtgcgtatCgggctcttctctgtgctgta	6	13	13	9	2	3	1	1	0	2	1	5	2	3	1	0	2	3	5	0	2	3	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:130648819C>T	ENST00000539839.1	+	1	1816	c.1234C>T	c.(1234-1236)Cgg>Tgg	p.R412W	FZD10_ENST00000229030.4_Silent_p.I444I	NM_007197.3	NP_009128.1	Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	84					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		TGGTGCGTATCGGGCTCTTCT	0.592													11	42					0	0	1	0	0	T	130648819	C	T	130648819	3	4	242	1	0	0	0	0	1	0	0	0	6164	874	31	1	1334	1	FZD10	12	130648819	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	464114	130648819	3203076	690	12304											
POLE	5426	broad.mit.edu	37	chr12	133254166	133254166	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaccctgccccactcaccaCgtggatcttcaggtcaatgg	9	8	8	16	1	4	0	3	0	1	0	4	1	4	1	4	3	2	0	4	3	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:133254166C>T	ENST00000320574.5	-	7	761	c.718G>A	c.(718-720)Gtg>Atg	p.V240M	POLE_ENST00000535270.1_Missense_Mutation_p.V213M	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	240					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		CCACTCACCACGTGGATCTTC	0.498								DNA polymerases (catalytic subunits)					14	33					0	0	1	0	0	T	133254166	C	T	133254166	3	4	242	1	0	0	0	0	1	0	0	0	12244	536	19	1	6314	1	POLE	12	133254166	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	2605347	133254166	597729	691	12305											
PXMP2	5827	broad.mit.edu	37	chr12	133266904	133266904	+	Frame_Shift_Del	DEL	A	A	-																															agatgattgagaagaagcggAaaaaagaaaactctagaagt																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr12:133266904delA	ENST00000317479.3	+	2	243	c.178delA	c.(178-180)aafs	p.K61fs	PXMP2_ENST00000545677.1_5'UTR|PXMP2_ENST00000543589.1_Frame_Shift_Del_p.K61fs|PXMP2_ENST00000539093.1_5'UTR|RP13-672B3.2_ENST00000537262.1_5'UTR|PXMP2_ENST00000428960.2_5'UTR	NM_018663.1	NP_061133.1	Q9NR77	PXMP2_HUMAN	peroxisomal membrane protein 2, 22kDa	61						integral to membrane|peroxisomal membrane	protein binding			large_intestine(1)|liver(2)|lung(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)		GAAGAAGCGGAAAAAAGAAAA	0.512													7	119	---	---	---	---						-	133266904	A	-	133266904	7	5	242	1	0	1	0	1	0	0	0	0	12902	247	9	0	184	0	PXMP2	12	133266904	Frame_Shift_Del	DEL	A	TCGA-KK-A59V-01A-11D-A29Q-08	12738	133266904	584991	692	12306											
FGF9	2254	broad.mit.edu	37	chr13	22246272	22246272	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgcaggactggatttcactTagaaatcttccccaatggta	11	12	8	10	0	2	1	1	0	1	1	3	3	3	3	2	3	1	2	2	3	4	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:22246272T>C	ENST00000382353.5	+	1	751	c.221T>C	c.(220-222)tTa>tCa	p.L74S		NM_002010.2	NP_002001.1	P31371	FGF9_HUMAN	fibroblast growth factor 9	74					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division	extracellular space	growth factor activity|heparin binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2)	9		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)		GGATTTCACTTAGAAATCTTC	0.507													40	56					0	0	1	0	0	C	22246272	T	C	22246272	3	2	242	1	0	0	0	0	1	0	0	0	5892	1764	61	3	223	3	FGF9	13	22246272	Missense_Mutation	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08		22246272	92923606	693	12307											
FGF9	2254	broad.mit.edu	37	chr13	22255282	22255282	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagggggagctgtatggaTcagtaagtactggagggact	12	8	17	4	0	1	1	1	0	0	1	1	5	1	5	0	5	2	4	0	5	4	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:22255282T>A	ENST00000382353.5	+	2	909	c.379T>A	c.(379-381)Tca>Aca	p.S127T	FGF9_ENST00000478546.1_3'UTR	NM_002010.2	NP_002001.1	P31371	FGF9_HUMAN	fibroblast growth factor 9	127					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division	extracellular space	growth factor activity|heparin binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2)	9		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)		GCTGTATGGATCAGTAAGTAC	0.468													12	39					0	0	1	0	0	A	22255282	T	A	22255282	3	1	242	1	0	0	0	0	1	0	0	0	5892	1435	50	5	385	5	FGF9	13	22255282	Missense_Mutation	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	9010	22255282	92914596	694	12308											
SACS	26278	broad.mit.edu	37	chr13	23911843	23911843	+	Frame_Shift_Del	DEL	A	A	-																															atttggaaaaaacacttcagAaaaaaactgtttctctgaaa																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:23911843delA	ENST00000382298.3	-	10	6760	c.6172delT	c.(6172-6174)ctfs	p.S2058fs	SACS_ENST00000382292.3_Frame_Shift_Del_p.S2058fs|SACS_ENST00000402364.1_Frame_Shift_Del_p.S1308fs	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	2058					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AACACTTCAGAAAAAAACTGT	0.333													18	31	---	---	---	---						-	23911843	A	-	23911843	7	5	242	1	0	1	0	1	0	0	0	0	13856	246	9	0	7571	0	SACS	13	23911843	Frame_Shift_Del	DEL	A	TCGA-KK-A59V-01A-11D-A29Q-08	1656561	23911843	91258035	695	12309											
PARP4	143	broad.mit.edu	37	chr13	25029157	25029157	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccaaagcgcactcacctGtgccgaactggataatattt	11	9	10	11	2	1	0	1	0	0	0	1	2	1	1	3	2	3	1	3	2	4	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:25029157G>A	ENST00000381989.3	-	22	2861	c.2756C>T	c.(2755-2757)aCa>aTa	p.T919I		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	919	VWFA.				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		GCACTCACCTGTGCCGAACTG	0.532													44	97					0	0	1	0	0	A	25029157	G	A	25029157	3	1	242	1	0	0	0	0	1	0	0	0	11510	1377	48	2	2470	2	PARP4	13	25029157	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1117314	25029157	90140721	696	12310											
USPL1	10208	broad.mit.edu	37	chr13	31227350	31227350	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaatgacttgcagcactatgCatttcattttgaaggctgtc	10	14	9	8	0	1	2	1	2	0	0	2	3	1	2	0	1	3	4	0	1	3	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:31227350C>T	ENST00000255304.4	+	8	1646	c.1304C>T	c.(1303-1305)gCa>gTa	p.A435V		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	435					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		CAGCACTATGCATTTCATTTT	0.348													26	86					0	0	1	0	0	T	31227350	C	T	31227350	3	4	242	1	0	0	0	0	1	0	0	0	17152	710	25	2	1330	2	USPL1	13	31227350	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	6198193	31227350	83942528	697	12311											
BRCA2	675	broad.mit.edu	37	chr13	32914549	32914549	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaagtattgtttaaaagtaaCgaacattcagaccagctcac	17	10	6	8	1	2	1	2	0	0	1	2	2	2	1	1	0	3	4	1	0	6	6	rs147961615	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:32914549C>T	ENST00000544455.1	+	11	6284	c.6057C>T	c.(6055-6057)aaC>aaT	p.N2019N	BRCA2_ENST00000380152.3_Silent_p.N2019N	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2019					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TTAAAAGTAACGAACATTCAG	0.338			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			4	87					0	0	1	0	0	T	32914549	C	T	32914549	2	4	242	1	0	0	0	0	0	0	0	1	1501	535	19	1		1	BRCA2	13	32914549	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1687199	32914549	82255329	698	12312											
KBTBD7	84078	broad.mit.edu	37	chr13	41767598	41767598	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcagtgaagtgcatccagcGcacgcacttgaagacttctg	10	10	10	11	2	2	3	1	2	1	1	3	3	3	3	1	0	2	3	1	0	2	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:41767598G>A	ENST00000379483.3	-	1	1104	c.796C>T	c.(796-798)Cgc>Tgc	p.R266C		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	266							protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		TGCATCCAGCGCACGCACTTG	0.552													10	95					0	0	1	0	0	A	41767598	G	A	41767598	3	1	242	1	0	0	0	0	1	0	0	0	8042	1087	38	1	1262	1	KBTBD7	13	41767598	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	8853049	41767598	73402280	699	12313											
TNFSF11	0	broad.mit.edu	37	chr13	43180811	43180811	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctagctacagagtatcttcaActaatggtgtacgtcactaa	13	12	7	9	1	3	1	2	0	1	1	3	1	3	1	0	1	4	3	0	1	7	7			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:43180811A>T	ENST00000398795.2	+	5	860	c.492A>T	c.(490-492)caA>caT	p.Q164H	TNFSF11_ENST00000544862.1_Missense_Mutation_p.Q164H|TNFSF11_ENST00000239849.6_Missense_Mutation_p.Q237H|TNFSF11_ENST00000358545.2_Missense_Mutation_p.Q164H|TNFSF11_ENST00000405262.2_Missense_Mutation_p.Q164H	NM_003701.3	NP_003692.1	O14788	TNF11_HUMAN	tumor necrosis factor (ligand) superfamily, member 11	237					immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell activation	cytoplasm|extracellular space|integral to plasma membrane	cytokine activity|receptor activity|tumor necrosis factor receptor binding			kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	10		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)		AGTATCTTCAACTAATGGTGT	0.398													43	95					0	0	1	0	0	T	43180811	A	T	43180811	3	4	242	1	0	0	0	0	1	0	0	0	16362	40	2	5	729	5	TNFSF11	13	43180811	Missense_Mutation	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	1413213	43180811	71989067	700	12314											
CPB2	1361	broad.mit.edu	37	chr13	46629960	46629960	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actaattttctcaatagcacGaactgcttcactggctacta	12	13	5	11	1	2	0	2	0	1	0	3	1	2	0	0	1	4	3	0	1	6	7			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:46629960G>A	ENST00000181383.4	-	10	1040	c.1024C>T	c.(1024-1026)Cgt>Tgt	p.R342C	CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606243.1_RNA|CPB2_ENST00000439329.3_Missense_Mutation_p.R305C|CPB2-AS1_ENST00000606351.1_RNA|CPB2-AS1_ENST00000606991.1_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	342					blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		TCAATAGCACGAACTGCTTCA	0.343													18	54					0	0	1	0	0	A	46629960	G	A	46629960	3	1	242	1	0	0	0	0	1	0	0	0	3820	1058	37	1	255	1	CPB2	13	46629960	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	3449149	46629960	68539918	701	12315											
RB1	5925	broad.mit.edu	37	chr13	48947629	48947629	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atctgatttcctattttaacGtaagccatatatgaaacatt	14	16	4	7	1	1	2	0	2	1	0	2	2	2	2	2	0	3	1	2	0	6	8			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:48947629G>A	ENST00000267163.4	+	12	1353		c.e12+1			NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1						androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.?(23)|p.0?(15)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTATTTTAACGTAAGCCATAT	0.279		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			4	66					0	0	1	0	0	A	48947629	G	A	48947629	5	1	242	1	0	0	0	0	0	0	1	0	13150	1159	40	1	1262	1	RB1	13	48947629	Splice_Site	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	2317669	48947629	66222249	702	12316											
RB1	5925	broad.mit.edu	37	chr13	49030367	49030368	+	Frame_Shift_Ins	INS	-	-	A																															ctcctgtaagatctccaaagINSaaaaaaggttcaactacgcg																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:49030367_49030368insA	ENST00000267163.4	+	19	1980_1981	c.1842_1843insA	c.(1840-1845)aaaaaafs	p.KK614fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	614	Pocket; binds T and E1A.|Spacer.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(10)|p.G617fs*6(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GATCTCCAAAGAAAAAAGGTTC	0.381		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			12	34	---	---	---	---						A	49030368	-	A	49030367	7	5	242	1	0	1	1	0	0	0	0	0	13150	933	33	0	1916	0	RB1	13	49030367	Frame_Shift_Ins	INS	-	TCGA-KK-A59V-01A-11D-A29Q-08	82738	49030367	66139511	703	12317											
PCDH17	27253	broad.mit.edu	37	chr13	58208512	58208512	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatctggtgagcactgtgcGcgccctagacagcgacttcg	7	9	12	13	4	1	2	0	1	1	1	2	3	1	2	1	1	3	1	1	1	2	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:58208512G>T	ENST00000377918.3	+	1	1858	c.1832G>T	c.(1831-1833)cGc>cTc	p.R611L		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	611	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		AGCACTGTGCGCGCCCTAGAC	0.662													4	86					0.150653	0.151212	1	1	0	T	58208512	G	T	58208512	3	4	242	1	0	0	0	0	1	0	0	0	11559	1087	38	4	1834	4	PCDH17	13	58208512	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	9178145	58208512	56961366	704	12318											
TBC1D4	9882	broad.mit.edu	37	chr13	75915275	75915275	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcacagaagggccttcccCgatgtgcacgtgtgtcttct	6	12	10	13	2	3	1	1	0	3	1	5	2	4	1	3	1	1	1	3	1	1	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:75915275C>T	ENST00000377636.3	-	7	1943	c.1597G>A	c.(1597-1599)Ggg>Agg	p.G533R	TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000431480.2_Missense_Mutation_p.G533R|TBC1D4_ENST00000377625.2_Missense_Mutation_p.G533R	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	533						cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		GGGCCTTCCCCGATGTGCACG	0.413													16	38					0	0	1	0	0	T	75915275	C	T	75915275	3	4	242	1	0	0	0	0	1	0	0	0	15682	652	23	1	2359	1	TBC1D4	13	75915275	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	17706763	75915275	39254603	705	12319											
MYCBP2	23077	broad.mit.edu	37	chr13	77844149	77844149	+	Frame_Shift_Del	DEL	T	T	-																															gagcataccctaaccaagacTttttttcttttctgtttcta																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:77844149delT	ENST00000407578.2	-	7	1504	c.1238delA	c.(1237-1239)agfs	p.K413fs	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Frame_Shift_Del_p.K375fs|MYCBP2_ENST00000357337.6_Frame_Shift_Del_p.K375fs	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	375					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)		TAACCAAGACTTTTTTTCTTT	0.289													10	163	---	---	---	---						-	77844149	T	-	77844149	7	5	242	1	0	1	0	1	0	0	0	0	10066	1609	56	0	13106	0	MYCBP2	13	77844149	Frame_Shift_Del	DEL	T	TCGA-KK-A59V-01A-11D-A29Q-08	1928874	77844149	37325729	706	12320											
NALCN	259232	broad.mit.edu	37	chr13	101717893	101717893	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccgcagcaggaacttgacGcggaacgtggggatcacccc	10	4	14	13	4	1	1	1	1	0	0	1	4	1	4	3	4	4	2	3	4	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:101717893G>A	ENST00000251127.6	-	40	4548	c.4467C>T	c.(4465-4467)cgC>cgT	p.R1489R		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1489						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGAACTTGACGCGGAACGTGG	0.532													4	88					0	0	1	0	0	A	101717893	G	A	101717893	2	1	242	1	0	0	0	0	0	0	0	1	10196	1074	38	1		1	NALCN	13	101717893	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	23873744	101717893	13451985	707	12321											
NALCN	259232	broad.mit.edu	37	chr13	101755543	101755543	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaaaaatttccttgaagcCgctgaaaagttctcgaacaa	17	9	6	9	2	1	2	0	2	1	0	3	3	2	2	2	0	2	2	2	0	8	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:101755543C>T	ENST00000251127.6	-	26	3118	c.3037G>A	c.(3037-3039)Ggc>Agc	p.G1013S		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1013						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.G1013C(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCCTTGAAGCCGCTGAAAAGT	0.453													8	149					0	0	1	0	0	T	101755543	C	T	101755543	3	4	242	1	0	0	0	0	1	0	0	0	10196	652	23	1	2255	1	NALCN	13	101755543	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	37650	101755543	13414335	708	12322											
LIG4	3981	broad.mit.edu	37	chr13	108863523	108863523	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtctgattttttctgcacGtcctttacttttctgtattc	4	22	6	9	1	3	1	0	1	3	0	5	1	4	1	1	0	2	2	1	0	2	9			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:108863523G>A	ENST00000356922.4	-	2	366	c.94C>T	c.(94-96)Cgt>Tgt	p.R32C	LIG4_ENST00000405925.1_Missense_Mutation_p.R32C|LIG4_ENST00000442234.1_Missense_Mutation_p.R32C	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	32					cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					TTTTCTGCACGTCCTTTACTT	0.373								Non-homologous end-joining					14	41					0	0	1	0	0	A	108863523	G	A	108863523	3	1	242	1	0	0	0	0	1	0	0	0	8823	1145	40	1	2645	1	LIG4	13	108863523	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	7107980	108863523	6306355	709	12323											
TUBGCP3	10426	broad.mit.edu	37	chr13	113212589	113212589	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgatgccactgctgcccaCgctgccggagctctgggctg	4	8	14	15	2	1	1	0	1	1	0	1	2	1	2	3	2	5	5	3	2	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:113212589C>T	ENST00000261965.3	-	5	655	c.469G>A	c.(469-471)Gtg>Atg	p.V157M	TUBGCP3_ENST00000375669.3_Missense_Mutation_p.V157M	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	157					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					CTGCTGCCCACGCTGCCGGAG	0.622													24	56					0	0	1	0	0	T	113212589	C	T	113212589	3	4	242	1	0	0	0	0	1	0	0	0	16829	536	19	1	2326	1	TUBGCP3	13	113212589	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	4349066	113212589	1957289	710	12324											
F7	2155	broad.mit.edu	37	chr13	113772753	113772753	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgacctcagcgagcacgacGgggatgagcagagccggcgg	10	2	17	12	6	1	2	1	1	0	1	1	6	1	3	2	4	4	2	2	4	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:113772753G>A	ENST00000375581.3	+	9	867	c.832G>A	c.(832-834)Ggg>Agg	p.G278R	F7_ENST00000541084.1_Missense_Mutation_p.G209R|F7_ENST00000346342.3_Missense_Mutation_p.G256R	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	278	Peptidase S1.				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	CGAGCACGACGGGGATGAGCA	0.687													37	98					0	0	1	0	0	A	113772753	G	A	113772753	3	1	242	1	0	0	0	0	1	0	0	0	5377	1116	39	1	866	1	F7	13	113772753	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	560164	113772753	1397125	711	12325											
ADPRHL1	113622	broad.mit.edu	37	chr13	114083366	114083366	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggggctttccttgtgcggCgaacgacacaaacagggccg	9	6	14	12	4	0	0	0	0	0	0	1	2	1	0	2	4	3	1	2	4	2	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr13:114083366C>T	ENST00000356501.4	-	4	476	c.301G>A	c.(301-303)Gcc>Acc	p.A101T	ADPRHL1_ENST00000375418.3_Missense_Mutation_p.A183T	NM_199162.1	NP_954631.1	Q8NDY3	ARHL1_HUMAN	ADP-ribosylhydrolase like 1	183					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			CCTTGTGCGGCGAACGACACA	0.667													3	28					0	0	1	0	0	T	114083366	C	T	114083366	3	4	242	1	0	0	0	0	1	0	0	0	331	768	27	1	533	1	ADPRHL1	13	114083366	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	310613	114083366	1086512	712	12326											
CHD8	57680	broad.mit.edu	37	chr14	21876686	21876686	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgaatagttttgcccaatcCcatctcatcagccaggatgc	10	11	7	13	0	2	1	2	1	1	0	4	2	3	2	3	1	3	1	3	1	3	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:21876686C>T	ENST00000399982.2	-	12	2579	c.2515G>A	c.(2515-2517)Gga>Aga	p.G839R	CHD8_ENST00000430710.3_Missense_Mutation_p.G560R|CHD8_ENST00000557364.1_Missense_Mutation_p.G839R|CHD8_ENST00000555962.1_Intron	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	839	Helicase ATP-binding.				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TTGCCCAATCCCATCTCATCA	0.408													7	29					0	0	1	0	0	T	21876686	C	T	21876686	3	4	242	1	0	0	0	0	1	0	0	0	3353	632	22	2	5334	2	CHD8	14	21876686	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08		21876686	85472854	713	12327											
MYH7	4625	broad.mit.edu	37	chr14	23884341	23884341	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctgcagctgcttcttgcCgcccttgagggcgatctgct	3	13	11	14	2	3	1	0	1	3	0	3	2	3	1	2	1	5	4	2	1	0	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:23884341C>T	ENST00000355349.3	-	37	5584	c.5422G>A	c.(5422-5424)Ggc>Agc	p.G1808S		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1808					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TGCTTCTTGCCGCCCTTGAGG	0.622													44	110					0	0	1	0	0	T	23884341	C	T	23884341	3	4	242	1	0	0	0	0	1	0	0	0	10087	652	23	1	401	1	MYH7	14	23884341	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	2007655	23884341	83465199	714	12328											
CPNE6	9362	broad.mit.edu	37	chr14	24542775	24542776	+	Frame_Shift_Ins	INS	-	-	T																															cgggtgctggcccttgagtaINStttttttgaggagaagcagc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:24542775_24542776insT	ENST00000397016.2	+	4	547_548	c.236_237insT	c.(235-237)tttfs	p.F79fs	CPNE6_ENST00000216775.2_Frame_Shift_Ins_p.F79fs|CPNE6_ENST00000560092.1_3'UTR|CPNE6_ENST00000537691.1_Frame_Shift_Ins_p.F134fs			O95741	CPNE6_HUMAN	copine VI (neuronal)	79	C2 1.				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		GCCCTTGAGTATTTTTTTGAGG	0.594													35	92	---	---	---	---						T	24542776	-	T	24542775	7	5	242	1	0	1	1	0	0	0	0	0	3839	449	16	0	242	0	CPNE6	14	24542775	Frame_Shift_Ins	INS	-	TCGA-KK-A59V-01A-11D-A29Q-08	658434	24542775	82806765	715	12329											
PCK2	5106	broad.mit.edu	37	chr14	24566322	24566322	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggagcagcagggcctcatccGaaagctccccaagtacaata	13	5	10	13	1	1	0	1	0	0	0	3	2	3	1	4	2	4	4	4	2	5	2	rs112490159		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:24566322G>A	ENST00000216780.4	+	2	519	c.251G>A	c.(250-252)cGa>cAa	p.R84Q	PCK2_ENST00000545054.2_5'UTR|PCK2_ENST00000559250.1_Missense_Mutation_p.R96Q|PCK2_ENST00000561286.1_Intron|PCK2_ENST00000558096.1_5'UTR|NRL_ENST00000561028.1_Intron|PCK2_ENST00000396973.4_Missense_Mutation_p.R84Q	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	84					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		GGCCTCATCCGAAAGCTCCCC	0.547													24	53					0	0	1	0	0	A	24566322	G	A	24566322	3	1	242	1	0	0	0	0	1	0	0	0	11629	1058	37	1	257	1	PCK2	14	24566322	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	23547	24566322	82783218	716	12330											
RNF31	55072	broad.mit.edu	37	chr14	24619809	24619809	+	Frame_Shift_Del	DEL	G	G	-																															ttctctctgccttcccagcaGggggatgctttgctggcctc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:24619809delG	ENST00000324103.6	+	8	1520	c.1200delG	c.(1198-1200)cafs	p.Q400fs	RNF31_ENST00000382687.3_Frame_Shift_Del_p.Q249fs|RNF31_ENST00000559275.1_Frame_Shift_Del_p.Q249fs	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	400	Polyubiquitin-binding.				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		CTTCCCAGCAGGGGGATGCTT	0.517													64	162	---	---	---	---						-	24619809	G	-	24619809	7	5	242	1	0	1	0	1	0	0	0	0	13539	991	35	0	1230	0	RNF31	14	24619809	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	53487	24619809	82729731	717	12331											
DHRS1	115817	broad.mit.edu	37	chr14	24760345	24760345	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgtgccagggtcctcacCgtccacatcccgaaggccat	7	8	10	16	2	1	0	1	0	0	0	4	1	4	0	6	2	2	1	6	2	1	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:24760345C>T	ENST00000288111.7	-	8	1081	c.805_splice	c.e8+1	p.G269_splice	DHRS1_ENST00000559088.1_5'UTR|DHRS1_ENST00000396813.1_Splice_Site_p.G269_splice	NM_001136050.2	NP_001129522.1	Q96LJ7	DHRS1_HUMAN	dehydrogenase/reductase (SDR family) member 1	269						endoplasmic reticulum	binding|oxidoreductase activity			cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6				GBM - Glioblastoma multiforme(265;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(311;0.0442)		GGGTCCTCACCGTCCACATCC	0.597													8	32					0	0	1	0	0	T	24760345	C	T	24760345	5	4	242	1	0	0	0	0	0	0	1	0	4514	666	23	1	144	1	DHRS1	14	24760345	Splice_Site	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	140536	24760345	82589195	718	12332											
STXBP6	0	broad.mit.edu	37	chr14	25443930	25443931	+	Frame_Shift_Del	DEL	TT	TT	-																															cagttgccaagaaaggaatcTttttctttgtcctcctcttg																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:25443930_25443931delTT	ENST00000323944.5	-	2	545_546	c.94_95delAA	c.(94-96)gfs	p.K32fs	STXBP6_ENST00000550887.1_Frame_Shift_Del_p.K32fs|STXBP6_ENST00000546511.1_Frame_Shift_Del_p.K32fs|STXBP6_ENST00000419632.2_Frame_Shift_Del_p.K32fs|STXBP6_ENST00000548724.1_Frame_Shift_Del_p.K32fs|STXBP6_ENST00000358326.2_Frame_Shift_Del_p.K32fs|STXBP6_ENST00000396700.1_Frame_Shift_Del_p.K32fs			Q8NFX7	STXB6_HUMAN	syntaxin binding protein 6 (amisyn)	32					vesicle-mediated transport	cytoplasm|integral to membrane				central_nervous_system(2)|endometrium(2)|large_intestine(3)	7				GBM - Glioblastoma multiforme(265;0.0296)		GAAAGGAATCTTTTTCTTTGTC	0.381													3	3	---	---	---	---						-	25443931	TT	-	25443930	7	5	242	1	0	1	0	1	0	0	0	0	15414	1609	56	0	557	0	STXBP6	14	25443930	Frame_Shift_Del	DEL	TT	TCGA-KK-A59V-01A-11D-A29Q-08	683585	25443930	81905610	719	12333											
NUBPL	80224	broad.mit.edu	37	chr14	32142777	32142777	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccattgagaaattgttgagGcaggtaagaatattgcttta	13	13	11	4	0	0	3	0	2	0	2	0	4	0	3	1	2	1	4	1	2	5	8			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:32142777G>A	ENST00000281081.7	+	6	555	c.510G>A	c.(508-510)agG>agA	p.R170R	NUBPL_ENST00000536705.1_Silent_p.R74R	NM_001201573.1|NM_001201574.1|NM_025152.2	NP_001188502.1|NP_001188503.1|NP_079428.2	Q8TB37	NUBPL_HUMAN	nucleotide binding protein-like	170					mitochondrial respiratory chain complex I assembly|mitochondrion morphogenesis	mitochondrion	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding			endometrium(1)|lung(2)|prostate(1)|skin(1)	5	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.214)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0677)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0102)		AATTGTTGAGGCAGGTAAGAA	0.368													5	67					0	0	1	0	0	A	32142777	G	A	32142777	2	1	242	1	0	0	0	0	0	0	0	1	10765	1194	42	2		2	NUBPL	14	32142777	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	6698847	32142777	75206763	720	12334											
FSCB	84075	broad.mit.edu	37	chr14	44974420	44974420	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctagaagctgaattgcagCagaggcctcttctgcagtgg	9	10	13	9	0	2	3	0	1	2	2	2	3	2	3	1	2	5	5	1	2	3	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:44974420C>T	ENST00000340446.4	-	1	2062	c.1771G>A	c.(1771-1773)Gct>Act	p.A591T		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	591	Ala-rich.					cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TGAATTGCAGCAGAGGCCTCT	0.547													17	38					0	0	1	0	0	T	44974420	C	T	44974420	3	4	242	1	0	0	0	0	1	0	0	0	6101	710	25	2	710	2	FSCB	14	44974420	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	12831643	44974420	62375120	721	12335											
FAM179B	23116	broad.mit.edu	37	chr14	45513865	45513865	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atttacgttctggagtttctCgtgctgctgtggtctgttta	4	19	11	7	2	3	0	0	0	3	0	4	1	3	1	0	2	3	5	0	2	2	6			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:45513865C>T	ENST00000361462.2	+	13	4129	c.3946C>T	c.(3946-3948)Cgt>Tgt	p.R1316C	FAM179B_ENST00000361577.3_Missense_Mutation_p.R1316C|FAM179B_ENST00000382233.2_3'UTR			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1316							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						TGGAGTTTCTCGTGCTGCTGT	0.338													11	40					0	0	1	0	0	T	45513865	C	T	45513865	3	4	242	1	0	0	0	0	1	0	0	0	5536	884	31	1	3996	1	FAM179B	14	45513865	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	539445	45513865	61835675	722	12336											
DDHD1	0	broad.mit.edu	37	chr14	53518597	53518597	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tattctgcattacattttccGgaaaaagaagttgtgggaga	13	13	10	5	1	1	2	0	0	1	2	2	4	2	3	1	2	2	2	1	2	5	6			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:53518597G>A	ENST00000323669.5	-	12	2485	c.2486C>T	c.(2485-2487)cCg>cTg	p.P829L	DDHD1_ENST00000357758.3_Intron|DDHD1_ENST00000555621.1_Intron|DDHD1_ENST00000395606.1_Intron	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	829	DDHD.				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					TACATTTTCCGGAAAAAGAAG	0.338													5	11					0	0	1	0	0	A	53518597	G	A	53518597	3	1	242	1	0	0	0	0	1	0	0	0	4349	1116	39	1	224	1	DDHD1	14	53518597	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	8004732	53518597	53830943	723	12337											
WDHD1	11169	broad.mit.edu	37	chr14	55433311	55433311	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggttgtgaaatataactgaaCgccaaaattgctcctataaa	16	11	7	7	1	0	2	0	2	0	0	1	2	1	2	2	1	3	2	2	1	9	6	rs145612447		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:55433311C>T	ENST00000360586.3	-	18	2257	c.2192G>A	c.(2191-2193)cGt>cAt	p.R731H	WDHD1_ENST00000359167.4_Missense_Mutation_p.R249H|WDHD1_ENST00000421192.1_Missense_Mutation_p.R608H|WDHD1_ENST00000420358.2_Missense_Mutation_p.R608H	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	731						cytoplasm|nucleoplasm	DNA binding			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						TATAACTGAACGCCAAAATTG	0.313													6	16					0	0	1	0	0	T	55433311	C	T	55433311	3	4	242	1	0	0	0	0	1	0	0	0	17331	536	19	1	1233	1	WDHD1	14	55433311	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1914714	55433311	51916229	724	12338											
PELI2	57161	broad.mit.edu	37	chr14	56763645	56763645	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtcccatgtgcaggactgtgGgcccctatgtgcctctctgg	4	11	13	13	0	1	0	0	0	1	0	3	1	2	1	4	3	2	1	4	3	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:56763645G>T	ENST00000267460.4	+	6	1310	c.1024G>T	c.(1024-1026)Ggc>Tgc	p.G342C		NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2	342					innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding			kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						CAGGACTGTGGGCCCCTATGT	0.592													42	87					4.14481e-20	4.34562e-20	1	1	0	T	56763645	G	T	56763645	3	4	242	1	0	0	0	0	1	0	0	0	11769	1232	43	4	1046	4	PELI2	14	56763645	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1330334	56763645	50585895	725	12339											
JKAMP	51528	broad.mit.edu	37	chr14	59965595	59965595	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttcttcccaattttaacCgtgcttcaggcagttggtgg	7	15	9	10	1	2	0	1	0	1	0	3	0	3	0	2	3	3	3	2	3	3	7			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:59965595C>T	ENST00000554271.1	+	5	1177	c.651C>T	c.(649-651)acC>acT	p.T217T	JKAMP_ENST00000261247.9_Silent_p.T203T|JKAMP_ENST00000356057.5_Silent_p.T211T|JKAMP_ENST00000425728.2_Silent_p.T197T|RP11-701B16.2_ENST00000554253.1_RNA			Q9P055	JKAMP_HUMAN	JNK1/MAPK8-associated membrane protein	218					ER-associated protein catabolic process|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ubiquitin protein ligase binding			breast(1)|endometrium(1)|kidney(1)|lung(3)	6						CAATTTTAACCGTGCTTCAGG	0.358													9	17					0	0	1	0	0	T	59965595	C	T	59965595	2	4	242	1	0	0	0	0	0	0	0	1	7993	639	23	1		1	JKAMP	14	59965595	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	3201950	59965595	47383945	726	12340											
SYNE2	23224	broad.mit.edu	37	chr14	64496688	64496688	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcgtcacagacctgaatactAcattggacaatttctccaag	13	10	7	11	1	2	2	1	1	1	1	3	3	2	3	2	1	2	0	2	1	5	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:64496688A>G	ENST00000358025.3	+	44	7020	c.6790A>G	c.(6790-6792)Aca>Gca	p.T2264A	SYNE2_ENST00000344113.4_Missense_Mutation_p.T2264A|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.T2264A	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2264					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CCTGAATACTACATTGGACAA	0.403													16	24					0	0	1	0	0	G	64496688	A	G	64496688	3	3	242	1	0	0	0	0	1	0	0	0	15503	391	14	3	6960	3	SYNE2	14	64496688	Missense_Mutation	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	4531093	64496688	42852852	727	12341											
RDH12	145226	broad.mit.edu	37	chr14	68191299	68191299	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggagacggccagagagctcGctagccgaggtaagtgtttc	10	7	15	9	3	0	2	0	0	0	2	2	5	0	2	2	3	2	4	2	3	2	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:68191299G>A	ENST00000551171.1	+	4	502	c.178G>A	c.(178-180)Gct>Act	p.A60T	RDH12_ENST00000539142.1_Missense_Mutation_p.A60T|RDH12_ENST00000267502.3_Missense_Mutation_p.A60T	NM_152443.2	NP_689656.2	Q96NR8	RDH12_HUMAN	retinol dehydrogenase 12 (all-trans/9-cis/11-cis)	60					photoreceptor cell maintenance|response to stimulus|retinol metabolic process	intracellular	binding|retinol dehydrogenase activity			large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(4)	12				all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	Vitamin A(DB00162)	CAGAGAGCTCGCTAGCCGAGG	0.557													19	61					0	0	1	0	0	A	68191299	G	A	68191299	3	1	242	1	0	0	0	0	1	0	0	0	13243	1087	38	1	184	1	RDH12	14	68191299	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	3694611	68191299	39158241	728	12342											
ZFP36L1	677	broad.mit.edu	37	chr14	69256455	69256455	+	Frame_Shift_Del	DEL	C	C	-																															ggaaggtggtcggggagccaCccccgggcagccccatgcta																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:69256455delC	ENST00000439696.2	-	2	1113	c.812delG	c.(811-813)gtfs	p.G272fs	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Frame_Shift_Del_p.G272fs	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	272					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CGGGGAGCCACCCCCGGGCAG	0.642											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	245	---	---	---	---						-	69256455	C	-	69256455	7	5	242	1	0	1	0	1	0	0	0	0	17704	507	18	0	208	0	ZFP36L1	14	69256455	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	1065156	69256455	38093085	729	12343											
EIF2B2	8892	broad.mit.edu	37	chr14	75474467	75474469	+	In_Frame_Del	DEL	GAA	GAA	-																															ttcataagtttgtggctcctGaagaagtcctgccattcaca																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:75474467_75474469delGAA	ENST00000266126.5	+	7	954_956	c.874_876delGAA	c.(874-876)del	p.E293del	RP11-950C14.3_ENST00000554430.1_RNA	NM_014239.3	NP_055054.1	P49770	EI2BB_HUMAN	eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa	293					cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	ATP binding|GTP binding|protein binding|translation initiation factor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.00661)		TGTGGCTCCTGAAGAAGTCCTGC	0.414													14	51	---	---	---	---						-	75474469	GAA	-	75474467	7	5	242	1	0	1	0	1	0	0	0	0	5027	1291	45	0	900	0	EIF2B2	14	75474467	In_Frame_Del	DEL	GAA	TCGA-KK-A59V-01A-11D-A29Q-08	6218012	75474467	31875073	730	12344											
NEK9	91754	broad.mit.edu	37	chr14	75558141	75558141	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcctcttcttcaccaccGccgcccccgccgcctcctcc	2	9	5	25	4	3	0	1	0	2	0	6	0	6	0	10	0	0	0	10	0	0	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:75558141G>A	ENST00000238616.5	-	19	2432	c.2274C>T	c.(2272-2274)ggC>ggT	p.G758G		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	758	Interaction with NEK6.|Poly-Gly.				cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		CTTCACCACCGCCGCCCCCGC	0.522													15	30					0	0	1	0	0	A	75558141	G	A	75558141	2	1	242	1	0	0	0	0	0	0	0	1	10378	1074	38	1		1	NEK9	14	75558141	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	83674	75558141	31791399	731	12345											
DIO2	1734	broad.mit.edu	37	chr14	80677671	80677671	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcatgcgccgccactctcCgcgagtggacttggagcggc	6	6	14	15	5	1	0	0	0	1	0	2	3	1	2	3	3	3	1	3	3	0	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:80677671C>T	ENST00000557010.1	-	3	530	c.145G>A	c.(145-147)Gga>Aga	p.G49R	DIO2_ENST00000555750.1_Missense_Mutation_p.G49R|DIO2_ENST00000557125.1_Intron|DIO2_ENST00000422005.3_Missense_Mutation_p.G49R|DIO2_ENST00000438257.4_Missense_Mutation_p.G49R	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	49					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		CGCCACTCTCCGCGAGTGGAC	0.577													7	25					0	0	1	0	0	T	80677671	C	T	80677671	3	4	242	1	0	0	0	0	1	0	0	0	4553	661	23	1	796	1	DIO2	14	80677671	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	5119530	80677671	26671869	732	12346											
FLRT2	23768	broad.mit.edu	37	chr14	86088044	86088044	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagtgcctcttgggatcccGgagggcgtaactgtactcta	7	11	12	11	2	3	0	1	0	2	0	4	2	4	2	2	3	3	2	2	3	3	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:86088044G>A	ENST00000330753.4	+	2	953	c.186G>A	c.(184-186)ccG>ccA	p.P62P	FLRT2_ENST00000554746.1_Silent_p.P62P	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	62	LRRNT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TTGGGATCCCGGAGGGCGTAA	0.517													47	102					0	0	1	0	0	A	86088044	G	A	86088044	2	1	242	1	0	0	0	0	0	0	0	1	5972	1103	39	1		1	FLRT2	14	86088044	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	5410373	86088044	21261496	733	12347											
RPS6KA5	9252	broad.mit.edu	37	chr14	91444844	91444844	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatcatggccacttattttaCgaactagaaatacttttcca	13	15	4	9	1	1	1	1	0	0	1	2	2	2	1	2	1	3	0	2	1	7	8			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:91444844C>T	ENST00000261991.3	-	3	373	c.200G>A	c.(199-201)cGt>cAt	p.R67H	RPS6KA5_ENST00000536315.2_5'UTR|RPS6KA5_ENST00000418736.2_Missense_Mutation_p.R67H	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	67	Protein kinase 1.				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		ACTTATTTTACGAACTAGAAA	0.323													15	29					0	0	1	0	0	T	91444844	C	T	91444844	3	4	242	1	0	0	0	0	1	0	0	0	13706	536	19	1	2274	1	RPS6KA5	14	91444844	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	5356800	91444844	15904696	734	12348											
GPR68	0	broad.mit.edu	37	chr14	91700524	91700524	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggtcccggtgggtggtctCgctgacgaagcagtagagca	8	7	16	10	3	1	2	0	1	1	1	3	3	2	2	1	4	2	4	1	4	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:91700524C>T	ENST00000535815.1	-	2	1211	c.871G>A	c.(871-873)Gag>Aag	p.E291K	GPR68_ENST00000238699.3_Missense_Mutation_p.E301K|GPR68_ENST00000531499.2_Missense_Mutation_p.E291K	NM_001177676.1	NP_001171147.1	Q15743	OGR1_HUMAN	G protein-coupled receptor 68	291					inflammatory response	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)		TGGGTGGTCTCGCTGACGAAG	0.692													4	9					0	0	1	0	0	T	91700524	C	T	91700524	3	4	242	1	0	0	0	0	1	0	0	0	6747	893	31	1	230	1	GPR68	14	91700524	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	255680	91700524	15649016	735	12349											
CLMN	79789	broad.mit.edu	37	chr14	95662949	95662949	+	Frame_Shift_Del	DEL	T	T	-																															ccacatgtttccttttttccTtttttttactactgattgat																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:95662949delT	ENST00000298912.4	-	10	2707	c.2594delA	c.(2593-2595)agfs	p.K865fs		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	865						integral to membrane	actin binding	p.K865fs*10(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		CCTTTTTTCCTTTTTTTTACT	0.408													17	30	---	---	---	---						-	95662949	T	-	95662949	7	5	242	1	0	1	0	1	0	0	0	0	3565	1609	56	0	430	0	CLMN	14	95662949	Frame_Shift_Del	DEL	T	TCGA-KK-A59V-01A-11D-A29Q-08	3962425	95662949	11686591	736	12350											
BCL11B	64919	broad.mit.edu	37	chr14	99641823	99641823	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttgtagggcttctcgccCgtgtgactgcgccggtgcac	4	10	13	14	4	1	1	0	1	1	0	2	1	1	1	2	2	2	3	2	2	1	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:99641823C>T	ENST00000345514.2	-	3	1403	c.1137G>A	c.(1135-1137)acG>acA	p.T379T	BCL11B_ENST00000443726.2_Silent_p.T256T|BCL11B_ENST00000357195.3_Silent_p.T450T	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	450						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GCTTCTCGCCCGTGTGACTGC	0.647			T	TLX3	T-ALL								13	30					0	0	1	0	0	T	99641823	C	T	99641823	2	4	242	1	0	0	0	0	0	0	0	1	1362	639	23	1		1	BCL11B	14	99641823	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	3978874	99641823	7707717	737	12351											
DEGS2	123099	broad.mit.edu	37	chr14	100615918	100615918	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccaaaggcgtaggcccagAacagcagccagcgccaggcc	12	1	12	16	2	0	1	0	0	0	1	0	1	0	1	5	3	4	2	5	3	3	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:100615918A>G	ENST00000305631.5	-	2	787	c.212T>C	c.(211-213)tTc>tCc	p.F71S	DEGS2_ENST00000553834.1_Intron|DEGS2_ENST00000557117.1_5'UTR	NM_206918.2	NP_996801.2	Q6QHC5	DEGS2_HUMAN	delta(4)-desaturase, sphingolipid 2	71					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	sphingosine hydroxylase activity			breast(1)|lung(6)|skin(1)	8		Melanoma(154;0.212)				GTAGGCCCAGAACAGCAGCCA	0.706													6	19					0	0	1	0	0	G	100615918	A	G	100615918	3	3	242	1	0	0	0	0	1	0	0	0	4451	246	9	3	767	3	DEGS2	14	100615918	Missense_Mutation	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	974095	100615918	6733622	738	12352											
WARS	7453	broad.mit.edu	37	chr14	100803477	100803478	+	Frame_Shift_Ins	INS	-	-	C																															acacgtccacatcacagttgINScccccaaactgcctgtgctc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:100803477_100803478insC	ENST00000355338.2	-	10	1793_1794	c.1175_1176insG	c.(1174-1176)gaafs	p.E392fs	WARS_ENST00000556645.1_Frame_Shift_Ins_p.E351fs|WARS_ENST00000358655.4_Frame_Shift_Ins_p.E351fs|RP11-638I2.8_ENST00000557226.1_RNA|WARS_ENST00000344102.5_Frame_Shift_Ins_p.E351fs|WARS_ENST00000392882.2_Frame_Shift_Ins_p.E392fs|WARS_ENST00000557135.1_Frame_Shift_Ins_p.E392fs	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	392					angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity	p.G392V(1)		breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	CATCACAGTTGCCCCCAAACTG	0.559													7	374	---	---	---	---						C	100803478	-	C	100803477	7	5	242	1	0	1	1	0	0	0	0	0	17309	1306	46	0	247	0	WARS	14	100803477	Frame_Shift_Ins	INS	-	TCGA-KK-A59V-01A-11D-A29Q-08	187559	100803477	6546063	739	12353											
DYNC1H1	1778	broad.mit.edu	37	chr14	102482350	102482350	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgctgcaccaggcctgccGcaacgtggcgcagtataacg	9	6	12	14	4	0	0	0	0	0	0	0	0	0	0	3	2	5	5	3	2	3	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:102482350G>A	ENST00000360184.4	+	36	7564	c.7400G>A	c.(7399-7401)cGc>cAc	p.R2467H		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2467					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CAGGCCTGCCGCAACGTGGCG	0.617													7	18					0	0	1	0	0	A	102482350	G	A	102482350	3	1	242	1	0	0	0	0	1	0	0	0	4867	1087	38	1	7542	1	DYNC1H1	14	102482350	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1678873	102482350	4867190	740	12354											
CINP	51550	broad.mit.edu	37	chr14	102816276	102816276	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaatgggttgtaggccacGtgtggaacagagggggtcgt	10	8	18	5	2	0	2	0	0	0	2	1	3	0	3	1	5	1	2	1	5	3	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:102816276G>A	ENST00000216756.6	-	4	456	c.416C>T	c.(415-417)aCg>aTg	p.T139M	CINP_ENST00000541568.2_Intron|CINP_ENST00000536961.2_Missense_Mutation_p.T154M	NM_032630.2	NP_116019.1	Q9BW66	CINP_HUMAN	cyclin-dependent kinase 2 interacting protein	139					cell cycle|cell division|DNA repair|DNA replication	nucleus	protein binding			large_intestine(2)|lung(2)	4						TGTAGGCCACGTGTGGAACAG	0.418													15	47					0	0	1	0	0	A	102816276	G	A	102816276	3	1	242	1	0	0	0	0	1	0	0	0	3453	1145	40	1	230	1	CINP	14	102816276	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	333926	102816276	4533264	741	12355											
C14orf180	400258	broad.mit.edu	37	chr14	105054176	105054176	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccccagaggacctcgaggCgcgtgtggttccgagaaccc	8	5	14	14	4	0	2	0	0	0	2	2	5	1	3	5	3	2	1	5	3	1	1	rs139748841	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:105054176C>T	ENST00000557649.1	+	3	538	c.202C>T	c.(202-204)Cgc>Tgc	p.R68C	C14orf180_ENST00000331952.2_Missense_Mutation_p.R68C|C14orf180_ENST00000410013.1_Missense_Mutation_p.R68C			Q8N912	CN180_HUMAN	chromosome 14 open reading frame 180	68						integral to membrane							Melanoma(154;0.226)	all cancers(16;0.00405)|OV - Ovarian serous cystadenocarcinoma(23;0.0319)|Epithelial(46;0.0784)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.127)		GACCTCGAGGCGCGTGTGGTT	0.682													4	13					0	0	1	0	0	T	105054176	C	T	105054176	3	4	242	1	0	0	0	0	1	0	0	0	1769	768	27	1	208	1	C14orf180	14	105054176	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	2237900	105054176	2295364	742	12356											
JAG2	3714	broad.mit.edu	37	chr14	105609046	105609046	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcccctactccttgccggCgtagcgggcctcattgatgc	4	9	11	17	4	1	1	1	1	0	0	2	1	2	1	6	2	4	1	6	2	2	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr14:105609046C>T	ENST00000331782.3	-	26	4106	c.3703G>A	c.(3703-3705)Gcc>Acc	p.A1235T	JAG2_ENST00000347004.2_Missense_Mutation_p.A1197T	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	1235				A -> V (in Ref. 2; AAB61285).	auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		TCCTTGCCGGCGTAGCGGGCC	0.716													6	8					0	0	1	0	0	T	105609046	C	T	105609046	3	4	242	1	0	0	0	0	1	0	0	0	7979	768	27	1	17	1	JAG2	14	105609046	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	554870	105609046	1740494	743	12357											
ATP10A	57194	broad.mit.edu	37	chr15	25953223	25953223	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctaggtggctttgcaaccaGcaggcatactcttctttact	8	14	8	11	0	3	0	0	0	3	0	3	0	3	0	1	3	5	4	1	3	4	6			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:25953223G>A	ENST00000356865.6	-	12	2586	c.2475C>T	c.(2473-2475)tgC>tgT	p.C825C		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	825					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TTTGCAACCAGCAGGCATACT	0.567													10	74					0	0	1	0	0	A	25953223	G	A	25953223	2	1	242	1	0	0	0	0	0	0	0	1	1115	963	34	2		2	ATP10A	15	25953223	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08		25953223	76578169	744	12358											
HERC2	8924	broad.mit.edu	37	chr15	28386876	28386876	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcttgtttctaatataataaCctgttcatccactgcacaag	12	14	5	10	0	2	0	1	0	1	0	3	0	3	0	2	0	2	4	2	0	5	7			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:28386876C>A	ENST00000261609.7	-	77	11925		c.e77+1			NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2						DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AATATAATAACCTGTTCATCC	0.418													45	117					2.95478e-19	3.09494e-19	1	1	0	A	28386876	C	A	28386876	5	1	242	1	0	0	0	0	0	0	1	0	7099	521	18	4	2755	4	HERC2	15	28386876	Splice_Site	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	2433653	28386876	74144516	745	12359											
RYR3	6263	broad.mit.edu	37	chr15	34080521	34080523	+	In_Frame_Del	DEL	AGG	AGG	-																															aaaggctgtcaagacggtgcAggaggaggagcagttgaaag																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:34080521_34080523delAGG	ENST00000389232.4	+	67	9762_9764	c.9692_9694delAGG	c.(9691-9696)cag>c	p.QE3231del	RYR3_ENST00000415757.3_In_Frame_Del_p.QE3231del	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3231					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AAGACGGTGCAGGAGGAGGAGCA	0.557													9	185	---	---	---	---						-	34080523	AGG	-	34080521	7	5	242	1	0	1	0	1	0	0	0	0	13822	188	7	0	9958	0	RYR3	15	34080521	In_Frame_Del	DEL	AGG	TCGA-KK-A59V-01A-11D-A29Q-08	5693645	34080521	68450871	746	12360											
LPCAT4	254531	broad.mit.edu	37	chr15	34657848	34657848	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccagaggagaaagaggaCgataaaggccagaagcactc	16	2	15	8	1	0	4	0	0	0	4	1	7	0	5	2	4	1	1	2	4	4	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:34657848C>T	ENST00000314891.6	-	2	346	c.169G>A	c.(169-171)Gtc>Atc	p.V57I	LPCAT4_ENST00000562431.1_5'UTR	NM_153613.2	NP_705841.2	Q643R3	LPCT4_HUMAN	lysophosphatidylcholine acyltransferase 4	57					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|calcium ion binding			NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						AGAAAGAGGACGATAAAGGCC	0.552													18	31					0	0	1	0	0	T	34657848	C	T	34657848	3	4	242	1	0	0	0	0	1	0	0	0	8958	536	19	1	1457	1	LPCAT4	15	34657848	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	577327	34657848	67873544	747	12361											
C15orf54	400360	broad.mit.edu	37	chr15	39544513	39544513	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagccactcatcacatgacGgagctccctctcaggttcct	9	9	8	15	1	3	2	3	1	1	1	6	3	5	3	3	2	2	2	3	2	0	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:39544513G>A	ENST00000318578.3	+	2	545	c.177G>A	c.(175-177)acG>acA	p.T59T	RP11-624L4.1_ENST00000561058.1_RNA|RP11-624L4.1_ENST00000560484.1_RNA|RP11-624L4.1_ENST00000558209.1_RNA|C15orf54_ENST00000561223.1_Silent_p.T59T	NM_207445.2	NP_997328.1	Q8N8G6	CO054_HUMAN	chromosome 15 open reading frame 54	59			T -> M (in dbSNP:rs11853050).							NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)		ATCACATGACGGAGCTCCCTC	0.438													122	311					0	0	1	0	0	A	39544513	G	A	39544513	2	1	242	1	0	0	0	0	0	0	0	1	1808	1103	39	1		1	C15orf54	15	39544513	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	4886665	39544513	62986879	748	12362											
EIF2AK4	440275	broad.mit.edu	37	chr15	40294929	40294929	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttagggcaacttctcaatcCgtacagccaagatgcagcag	12	9	9	11	1	1	1	1	0	1	1	3	1	2	1	2	1	5	4	2	1	5	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:40294929C>T	ENST00000263791.5	+	22	3218	c.3175C>T	c.(3175-3177)Cgt>Tgt	p.R1059C	EIF2AK4_ENST00000559311.1_3'UTR|EIF2AK4_ENST00000382727.2_Missense_Mutation_p.R1031C	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	1059	Histidyl-tRNA synthetase-like.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity	p.R1059S(1)		NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		CTTCTCAATCCGTACAGCCAA	0.383													41	88					0	0	1	0	0	T	40294929	C	T	40294929	3	4	242	1	0	0	0	0	1	0	0	0	5025	652	23	1	3261	1	EIF2AK4	15	40294929	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	750416	40294929	62236463	749	12363											
SRP14	6727	broad.mit.edu	37	chr15	40330494	40330496	+	In_Frame_Del	DEL	TCT	TCT	-																															taagctcaccacagtgctgaTcttcttcttcccatcggtag																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:40330494_40330496delTCT	ENST00000267884.6	-	3	268_270	c.197_199delAGA	c.(196-201)atc>a	p.KI66del	SRP14_ENST00000560773.1_5'UTR|SRP14_ENST00000558720.1_5'UTR|SRP14_ENST00000559081.1_In_Frame_Del_p.KI66del|SRP14_ENST00000558527.1_5'UTR	NM_003134.4	NP_003125.3	P37108	SRP14_HUMAN	signal recognition particle 14kDa (homologous Alu RNA binding protein)	66					negative regulation of translational elongation|response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|endoplasmic reticulum signal peptide binding|protein binding			endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)		ACAGTGCTGATCTTCTTCTTCCC	0.453													15	61	---	---	---	---						-	40330496	TCT	-	40330494	7	5	242	1	0	1	0	1	0	0	0	0	15209	1435	50	0	223	0	SRP14	15	40330494	In_Frame_Del	DEL	TCT	TCGA-KK-A59V-01A-11D-A29Q-08	35565	40330494	62200898	750	12364											
RAD51	5888	broad.mit.edu	37	chr15	40993313	40993313	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aattggaagaagctggattcCatactgtggaggctgttgcc	10	11	13	7	0	0	1	0	0	0	1	1	4	1	4	2	4	3	3	2	4	4	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:40993313C>A	ENST00000267868.3	+	3	407	c.139C>A	c.(139-141)Cat>Aat	p.H47N	RAD51_ENST00000557850.1_Missense_Mutation_p.H47N|RAD51_ENST00000532743.1_Missense_Mutation_p.H47N|RAD51_ENST00000382643.3_Missense_Mutation_p.H47N|RAD51_ENST00000423169.2_Missense_Mutation_p.H47N	NM_002875.4	NP_002866.2	Q06609	RAD51_HUMAN	RAD51 recombinase	47					DNA recombinase assembly|DNA unwinding involved in replication|mitotic recombination|positive regulation of DNA ligation|protein homooligomerization|reciprocal meiotic recombination	mitochondrial matrix|nucleus|perinuclear region of cytoplasm|PML body	ATP binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|protein C-terminus binding|single-stranded DNA binding|single-stranded DNA-dependent ATPase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.45e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000421)|COAD - Colon adenocarcinoma(120;0.163)		AGCTGGATTCCATACTGTGGA	0.383								Homologous recombination					31	69					4.74835e-14	4.95919e-14	1	1	0	A	40993313	C	A	40993313	3	1	242	1	0	0	0	0	1	0	0	0	13037	594	21	4	145	4	RAD51	15	40993313	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	662819	40993313	61538079	751	12365											
SPINT1	6692	broad.mit.edu	37	chr15	41145959	41145959	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgccggggctctttcccaCgctggtactatgaccccacg	5	9	11	16	3	1	1	0	1	1	0	2	1	2	1	4	3	2	4	4	3	2	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:41145959C>T	ENST00000344051.4	+	5	1027	c.793C>T	c.(793-795)Cgc>Tgc	p.R265C	SPINT1_ENST00000431806.1_Missense_Mutation_p.R265C|SPINT1_ENST00000562057.1_Missense_Mutation_p.R265C			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	265	BPTI/Kunitz inhibitor 1.					extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		CTCTTTCCCACGCTGGTACTA	0.577													12	171					0	0	1	0	0	T	41145959	C	T	41145959	3	4	242	1	0	0	0	0	1	0	0	0	15124	536	19	1	807	1	SPINT1	15	41145959	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	152646	41145959	61385433	752	12366											
PLA2G4D	283748	broad.mit.edu	37	chr15	42363730	42363730	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcatccagcaggttcagggaGaaaatgttgctccagatggc	11	8	13	9	0	1	2	1	0	0	2	3	3	3	2	2	3	2	5	2	3	2	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:42363730G>A	ENST00000290472.3	-	16	1687	c.1593C>T	c.(1591-1593)ttC>ttT	p.F531F		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	531	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		GGTTCAGGGAGAAAATGTTGC	0.567													20	41					0	0	1	0	0	A	42363730	G	A	42363730	2	1	242	1	0	0	0	0	0	0	0	1	12052	933	33	2		2	PLA2G4D	15	42363730	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1217771	42363730	60167662	753	12367											
TMEM62	80021	broad.mit.edu	37	chr15	43443992	43443992	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attatctggtctttaggtacCggatttttgcttttgatcac	7	19	8	7	1	3	1	1	1	2	0	3	2	3	2	1	3	2	2	1	3	3	8			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:43443992C>T	ENST00000260403.2	+	8	1150	c.871C>T	c.(871-873)Cgg>Tgg	p.R291W		NM_024956.3	NP_079232.3	Q0P6H9	TMM62_HUMAN	transmembrane protein 62	291						integral to membrane				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		CTTTAGGTACCGGATTTTTGC	0.353													9	107					0	0	1	0	0	T	43443992	C	T	43443992	3	4	242	1	0	0	0	0	1	0	0	0	16249	643	23	1	901	1	TMEM62	15	43443992	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1080262	43443992	59087400	754	12368											
TP53BP1	7158	broad.mit.edu	37	chr15	43714237	43714237	+	Frame_Shift_Del	DEL	C	C	-																															ggaggagaaggagctgatatCccccaggtcacctgaggagc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:43714237delC	ENST00000263801.3	-	19	4153	c.3901delG	c.(3901-3903)atfs	p.D1301fs	TP53BP1_ENST00000450115.2_Frame_Shift_Del_p.D1306fs|TP53BP1_ENST00000382044.4_Frame_Shift_Del_p.D1306fs|TP53BP1_ENST00000382039.3_Frame_Shift_Del_p.D1306fs	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1301					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GAGCTGATATCCCCCAGGTCA	0.527								Other conserved DNA damage response genes					7	127	---	---	---	---						-	43714237	C	-	43714237	7	5	242	1	0	1	0	1	0	0	0	0	16444	855	30	0	2057	0	TP53BP1	15	43714237	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	270245	43714237	58817155	755	12369											
TP53BP1	7158	broad.mit.edu	37	chr15	43733757	43733757	+	Frame_Shift_Del	DEL	T	T	-																															cagcaacagcagtagatccaTtttttctttcaccagttgca																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:43733757delT	ENST00000263801.3	-	15	3302	c.3050delA	c.(3049-3051)atfs	p.N1017fs	TP53BP1_ENST00000450115.2_Frame_Shift_Del_p.N1022fs|TP53BP1_ENST00000382044.4_Frame_Shift_Del_p.N1022fs|TP53BP1_ENST00000382039.3_Frame_Shift_Del_p.N1022fs	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1017					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		AGTAGATCCATTTTTTCTTTC	0.393								Other conserved DNA damage response genes					33	93	---	---	---	---						-	43733757	T	-	43733757	7	5	242	1	0	1	0	1	0	0	0	0	16444	1493	52	0	2924	0	TP53BP1	15	43733757	Frame_Shift_Del	DEL	T	TCGA-KK-A59V-01A-11D-A29Q-08	19520	43733757	58797635	756	12370											
SPG11	80208	broad.mit.edu	37	chr15	44858060	44858060	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttcttgctcacctggtagaAccgaggtagggccagaatac	10	10	11	10	1	2	2	1	0	1	2	2	3	2	2	3	3	3	3	3	3	5	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:44858060A>G	ENST00000261866.7	-	38	7007	c.6991T>C	c.(6991-6993)Ttc>Ctc	p.F2331L	SPG11_ENST00000427534.2_Intron|SPG11_ENST00000535302.2_Missense_Mutation_p.F2218L	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	2331					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		ACCTGGTAGAACCGAGGTAGG	0.517													6	27					0	0	1	0	0	G	44858060	A	G	44858060	3	3	242	1	0	0	0	0	1	0	0	0	15097	43	2	3	352	3	SPG11	15	44858060	Missense_Mutation	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	1124303	44858060	57673332	757	12371											
DUOX1	53905	broad.mit.edu	37	chr15	45448007	45448007	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attcattttgcaggcctcacGggggttgtgctgctcctgat	5	14	12	10	1	2	1	2	1	0	0	3	1	3	1	2	3	3	4	2	3	0	4	rs148179597		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:45448007G>A	ENST00000321429.4	+	29	3989	c.3582G>A	c.(3580-3582)acG>acA	p.T1194T	DUOX1_ENST00000561166.1_Silent_p.T840T|DUOX1_ENST00000389037.3_Silent_p.T1194T|CTD-2651B20.1_ENST00000558039.1_lincRNA	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1194	Ferric oxidoreductase.|Interaction with TXNDC11 (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CAGGCCTCACGGGGGTTGTGC	0.577													4	144					0	0	1	0	0	A	45448007	G	A	45448007	2	1	242	1	0	0	0	0	0	0	0	1	4826	1103	39	1		1	DUOX1	15	45448007	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	589947	45448007	57083385	758	12372											
FBN1	2200	broad.mit.edu	37	chr15	48733951	48733951	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccactggaggacaaggaaaAcccttctggacacagacatt	14	7	9	11	0	1	1	0	0	1	1	2	5	2	5	2	4	1	0	2	4	3	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:48733951A>C	ENST00000316623.5	-	50	6585	c.6130T>G	c.(6130-6132)Ttt>Gtt	p.F2044V		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	2044	EGF-like 35; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GACAAGGAAAACCCTTCTGGA	0.438													10	174					0	0	1	0	0	C	48733951	A	C	48733951	3	2	242	1	0	0	0	0	1	0	0	0	5735	43	2	5	2553	5	FBN1	15	48733951	Missense_Mutation	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	3285944	48733951	53797441	759	12373											
CEP152	22995	broad.mit.edu	37	chr15	49036443	49036443	+	Frame_Shift_Del	DEL	T	T	-																															agaattaaacttacatttaaTtttttttacagctttaatgt																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:49036443delT	ENST00000380950.2	-	24	4016	c.3829delA	c.(3829-3831)ttfs	p.I1277fs	CEP152_ENST00000399334.3_Frame_Shift_Del_p.I1221fs|CEP152_ENST00000325747.5_Frame_Shift_Del_p.I1184fs	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1221					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TTACATTTAATTTTTTTTACA	0.393													10	44	---	---	---	---						-	49036443	T	-	49036443	7	5	242	1	0	1	0	1	0	0	0	0	3270	1493	52	0	1319	0	CEP152	15	49036443	Frame_Shift_Del	DEL	T	TCGA-KK-A59V-01A-11D-A29Q-08	302492	49036443	53494949	760	12374											
MYO5A	4644	broad.mit.edu	37	chr15	52667640	52667640	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggttgctgccttggttctgCgcagaaacttagcatagctg	7	13	12	9	1	1	1	0	0	1	1	1	1	1	1	1	2	6	6	1	2	3	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:52667640C>T	ENST00000399231.3	-	20	2681	c.2438G>A	c.(2437-2439)cGc>cAc	p.R813H	MYO5A_ENST00000358212.6_Missense_Mutation_p.R813H|MYO5A_ENST00000553916.1_Missense_Mutation_p.R813H|MYO5A_ENST00000356338.6_Missense_Mutation_p.R813H|MYO5A_ENST00000399233.2_Missense_Mutation_p.R813H	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	813	IQ 2.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CTTGGTTCTGCGCAGAAACTT	0.413													14	27					0	0	1	0	0	T	52667640	C	T	52667640	3	4	242	1	0	0	0	0	1	0	0	0	10126	768	27	1	3217	1	MYO5A	15	52667640	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	3631197	52667640	49863752	761	12375											
RFX7	64864	broad.mit.edu	37	chr15	56388644	56388644	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggtaagatctgagggtaacGgtgccgggcagaacgatccc	10	6	16	9	3	1	3	0	1	1	2	2	4	2	3	2	4	3	3	2	4	3	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:56388644G>A	ENST00000423270.1	-	9	1281	c.1282C>T	c.(1282-1284)Cgt>Tgt	p.R428C	RFX7_ENST00000422057.1_Missense_Mutation_p.R331C|RFX7_ENST00000559447.2_Missense_Mutation_p.R331C|RFX7_ENST00000317318.6_Missense_Mutation_p.R428C	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	331					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TGAGGGTAACGGTGCCGGGCA	0.532													10	31					0	0	1	0	0	A	56388644	G	A	56388644	3	1	242	1	0	0	0	0	1	0	0	0	13320	1116	39	1	3104	1	RFX7	15	56388644	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	3721004	56388644	46142748	762	12376											
ALDH1A2	8854	broad.mit.edu	37	chr15	58306166	58306166	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accaagagagaaagccaggcGggctgcctgcactgctttgt	10	7	13	11	1	0	2	0	0	0	2	0	3	0	2	3	2	4	3	3	2	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:58306166G>A	ENST00000249750.4	-	3	1020	c.253C>T	c.(253-255)Cgc>Tgc	p.R85C	ALDH1A2_ENST00000559517.1_5'UTR|ALDH1A2_ENST00000558231.1_Missense_Mutation_p.R56C|ALDH1A2_ENST00000537372.1_Missense_Mutation_p.R64C|ALDH1A2_ENST00000347587.3_Missense_Mutation_p.R85C	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	85					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity	p.R85S(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	AAAGCCAGGCGGGCTGCCTGC	0.498													86	227					0	0	1	0	0	A	58306166	G	A	58306166	3	1	242	1	0	0	0	0	1	0	0	0	488	1116	39	1	1347	1	ALDH1A2	15	58306166	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1917522	58306166	44225226	763	12377											
C2CD4A	145741	broad.mit.edu	37	chr15	62360188	62360188	+	Frame_Shift_Del	DEL	C	C	-																															cgctcctgctcgggggcccgCccgcgccccggccccgggcc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:62360188delC	ENST00000355522.5	+	2	517	c.376delC	c.(376-378)ccfs	p.P126fs		NM_207322.2	NP_997205.2	Q8NCU7	C2C4A_HUMAN	C2 calcium-dependent domain containing 4A	126						nucleus											cgggggcccgcccgcgccccg	0.811													2	4	---	---	---	---						-	62360188	C	-	62360188	7	5	242	1	0	1	0	1	0	0	0	0	2169	739	26	0	378	0	C2CD4A	15	62360188	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	4054022	62360188	40171204	764	12378											
TLN2	83660	broad.mit.edu	37	chr15	62985084	62985084	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actattcagtacaaaccaccGagggagagcagatatcccag	15	6	9	11	1	1	2	1	0	0	2	2	4	2	2	3	1	3	2	3	1	4	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:62985084G>A	ENST00000561311.1	+	12	1389	c.1159G>A	c.(1159-1161)Gag>Aag	p.E387K	TLN2_ENST00000306829.6_Missense_Mutation_p.E387K			Q9Y4G6	TLN2_HUMAN	talin 2	387	FERM.|Interaction with PIP5K1C (By similarity).				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	p.E387K(1)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						ACAAACCACCGAGGGAGAGCA	0.388													23	59					0	0	1	0	0	A	62985084	G	A	62985084	3	1	242	1	0	0	0	0	1	0	0	0	16008	1059	37	1	1197	1	TLN2	15	62985084	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	624896	62985084	39546308	765	12379											
CSNK1G1	53944	broad.mit.edu	37	chr15	64506280	64506280	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agttctctggcttgacatctCggtaaatgaggttctttgag	8	15	11	7	1	3	3	0	3	3	0	5	3	3	3	0	3	0	4	0	3	2	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:64506280C>T	ENST00000303052.7	-	6	911	c.488G>A	c.(487-489)cGa>cAa	p.R163Q	CTD-2116N17.1_ENST00000606793.1_Missense_Mutation_p.R145Q|CSNK1G1_ENST00000303032.6_Missense_Mutation_p.R163Q|CSNK1G1_ENST00000607537.1_Missense_Mutation_p.R163Q	NM_022048.3	NP_071331.2	Q9HCP0	KC1G1_HUMAN	casein kinase 1, gamma 1	163	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	13						CTTGACATCTCGGTAAATGAG	0.383													44	102					0	0	1	0	0	T	64506280	C	T	64506280	3	4	242	1	0	0	0	0	1	0	0	0	3979	884	31	1	808	1	CSNK1G1	15	64506280	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1521196	64506280	38025112	766	12380											
ZNF609	23060	broad.mit.edu	37	chr15	64966285	64966285	+	Frame_Shift_Del	DEL	G	G	-																															agccaatagcaaaggccgtcGgggcagccagaattcttcag																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:64966285delG	ENST00000326648.3	+	4	1360	c.1232delG	c.(1231-1233)cgfs	p.R411fs	ZNF609_ENST00000559364.1_3'UTR	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	411						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AAAGGCCGTCGGGGCAGCCAG	0.547													35	149	---	---	---	---						-	64966285	G	-	64966285	7	5	242	1	0	1	0	1	0	0	0	0	18092	1116	39	0	1246	0	ZNF609	15	64966285	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	460005	64966285	37565107	767	12381											
GLCE	26035	broad.mit.edu	37	chr15	69561011	69561011	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggccaattatggtgaccCgtaagttaggggaagggttc	9	10	15	7	1	0	1	0	1	0	0	1	2	0	2	2	5	0	4	2	5	5	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:69561011C>T	ENST00000261858.2	+	5	1510	c.1282C>T	c.(1282-1284)Cgt>Tgt	p.R428C	GLCE_ENST00000559420.2_Missense_Mutation_p.R364C	NM_015554.1	NP_056369.1	O94923	GLCE_HUMAN	glucuronic acid epimerase	428					heparan sulfate proteoglycan biosynthetic process|heparin biosynthetic process	Golgi membrane|integral to membrane	UDP-glucuronate 5'-epimerase activity			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	18						TATGGTGACCCGTAAGTTAGG	0.488													6	81					0	0	1	0	0	T	69561011	C	T	69561011	3	4	242	1	0	0	0	0	1	0	0	0	6474	652	23	1	1292	1	GLCE	15	69561011	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	4594726	69561011	32970381	768	12382											
MYO9A	4649	broad.mit.edu	37	chr15	72197283	72197283	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttaccttttcagcattagagCgaatgcattttacaaaatat	14	15	5	7	1	1	1	1	0	0	1	1	2	1	1	1	0	5	2	1	0	7	7			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:72197283C>T	ENST00000356056.5	-	20	3222	c.2750G>A	c.(2749-2751)cGc>cAc	p.R917H	MYO9A_ENST00000444904.1_Missense_Mutation_p.R898H|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000566885.1_Missense_Mutation_p.R537H|MYO9A_ENST00000424560.1_Missense_Mutation_p.R917H|MYO9A_ENST00000564571.1_Missense_Mutation_p.R917H	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	917	Actin-binding (By similarity).|Myosin head-like 2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AGCATTAGAGCGAATGCATTT	0.348													12	36					0	0	1	0	0	T	72197283	C	T	72197283	3	4	242	1	0	0	0	0	1	0	0	0	10132	768	27	1	4988	1	MYO9A	15	72197283	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	2636272	72197283	30334109	769	12383											
PML	5371	broad.mit.edu	37	chr15	74327550	74327550	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaccgccgagccacagtcctCgccagcccactcctcgccag	7	4	9	21	4	0	0	0	0	0	0	4	2	2	0	8	0	2	0	8	0	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:74327550C>T	ENST00000268059.6	+	8	1844	c.1748C>T	c.(1747-1749)tCg>tTg	p.S583L	PML_ENST00000565898.1_Intron|PML_ENST00000569477.1_Silent_p.L596L|PML_ENST00000435786.2_3'UTR|PML_ENST00000395135.3_Intron|PML_ENST00000563500.1_3'UTR|PML_ENST00000436891.3_3'UTR|PML_ENST00000569965.1_Intron|PML_ENST00000395132.2_Intron|PML_ENST00000359928.4_Intron|PML_ENST00000564428.1_Intron|PML_ENST00000354026.6_Missense_Mutation_p.S535L|PML_ENST00000268058.3_Intron	NM_033239.2|NM_033244.3	NP_150242.1|NP_150247.2	P29590	PML_HUMAN	promyelocytic leukemia	583					cell cycle arrest|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 resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						CCACAGTCCTCGCCAGCCCAC	0.642			T	"RARA, PAX5"	"APL, ALL"								83	213					0	0	1	0	0	T	74327550	C	T	74327550	3	4	242	1	0	0	0	0	1	0	0	0	12183	893	31	1	1912	1	PML	15	74327550	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	2130267	74327550	28203842	770	12384											
PML	5371	broad.mit.edu	37	chr15	74335504	74335504	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttctcctggggctaccccCacccctttctaatttagtct	5	14	7	15	0	3	0	0	0	3	0	4	0	3	0	5	3	1	2	5	3	3	6			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:74335504C>T	ENST00000395135.3	+	8	2025	c.1885C>T	c.(1885-1887)Cac>Tac	p.H629Y	PML_ENST00000565898.1_Intron|PML_ENST00000569965.1_3'UTR|PML_ENST00000359928.4_3'UTR|PML_ENST00000564428.1_Missense_Mutation_p.H581Y|PML_ENST00000268058.3_Intron	NM_002675.3	NP_002666.1	P29590	PML_HUMAN	promyelocytic leukemia	0					cell cycle arrest|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 resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						GGGCTACCCCCACCCCTTTCT	0.537			T	"RARA, PAX5"	"APL, ALL"								17	37					0	0	1	0	0	T	74335504	C	T	74335504	3	4	242	1	0	0	0	0	1	0	0	0	12183	594	21	2	2891	2	PML	15	74335504	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	7954	74335504	28195888	771	12385											
BCL2A1	597	broad.mit.edu	37	chr15	80263148	80263148	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catccggggcaatttgctgtCgtagaagtttcttgatgaga	9	13	12	7	2	1	3	0	2	1	2	3	4	2	3	1	2	1	4	1	2	3	4	rs138123718		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:80263148C>T	ENST00000267953.3	-	1	640	c.314G>A	c.(313-315)cGa>cAa	p.R105Q	BCL2A1_ENST00000335661.6_Missense_Mutation_p.R105Q	NM_004049.3	NP_004040.1	Q16548	B2LA1_HUMAN	BCL2-related protein A1	105					anti-apoptosis|apoptosis	cytoplasm	protein binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	12						AATTTGCTGTCGTAGAAGTTT	0.388													68	122					0	0	1	0	0	T	80263148	C	T	80263148	3	4	242	1	0	0	0	0	1	0	0	0	1364	884	31	1	281	1	BCL2A1	15	80263148	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	5927644	80263148	22268244	772	12386											
IL16	3603	broad.mit.edu	37	chr15	81517754	81517754	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgaggatggagtcgcacaGccgcgctggaaagagcagaa	12	6	15	8	3	0	3	0	1	0	2	1	6	0	6	1	3	2	3	1	3	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:81517754G>T	ENST00000394660.2	+	2	374	c.14G>T	c.(13-15)aGc>aTc	p.S5I	IL16_ENST00000302987.4_Missense_Mutation_p.S5I	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	5					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GAGTCGCACAGCCGCGCTGGA	0.542													7	33					0.0381472	0.0383956	1	1	0	T	81517754	G	T	81517754	3	4	242	1	0	0	0	0	1	0	0	0	7677	971	34	4	16	4	IL16	15	81517754	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1254606	81517754	21013638	773	12387											
EFTUD1	79631	broad.mit.edu	37	chr15	82523237	82523238	+	Frame_Shift_Ins	INS	-	-	C																															tcatatttatatagtaatctINSccccacaaggttttcataag																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:82523237_82523238insC	ENST00000268206.7	-	8	974_975	c.806_807insG	c.(805-807)ggafs	p.G269fs	EFTUD1_ENST00000561331.1_5'UTR|EFTUD1_ENST00000359445.3_Frame_Shift_Ins_p.G218fs	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	269					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						TATAGTAATCTCCCCACAAGGT	0.361													35	62	---	---	---	---						C	82523238	-	C	82523237	7	5	242	1	0	1	1	0	0	0	0	0	4986	1538	54	0	2607	0	EFTUD1	15	82523237	Frame_Shift_Ins	INS	-	TCGA-KK-A59V-01A-11D-A29Q-08	1005483	82523237	20008155	774	12388											
ADAMTSL3	57188	broad.mit.edu	37	chr15	84581902	84581902	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggccgggtgtgcaggtcCgtgaggtgaagtgccgtgtg	4	9	21	7	3	0	2	0	2	0	0	1	2	1	2	3	4	2	1	3	4	1	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:84581902C>T	ENST00000286744.5	+	16	1983	c.1759C>T	c.(1759-1761)Cgt>Tgt	p.R587C	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.R587C	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	587	TSP type-1 4.		R -> H (in a colorectal cancer sample; somatic mutation).			proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGTGCAGGTCCGTGAGGTGAA	0.602													35	80					0	0	1	0	0	T	84581902	C	T	84581902	3	4	242	1	0	0	0	0	1	0	0	0	275	652	23	1	1817	1	ADAMTSL3	15	84581902	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	2058665	84581902	17949490	775	12389											
KIF7	374654	broad.mit.edu	37	chr15	90172797	90172797	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgctgctcctctcggagcGtcaccacctgtcccaagacc	6	8	10	17	2	2	1	1	0	1	1	5	2	4	2	5	2	3	2	5	2	1	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:90172797G>A	ENST00000394412.3	-	17	3402	c.3326C>T	c.(3325-3327)aCg>aTg	p.T1109M		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	1109					microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CTCTCGGAGCGTCACCACCTG	0.587													28	62					0	0	1	0	0	A	90172797	G	A	90172797	3	1	242	1	0	0	0	0	1	0	0	0	8351	1145	40	1	717	1	KIF7	15	90172797	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	5590895	90172797	12358595	776	12390											
KIF7	374654	broad.mit.edu	37	chr15	90190209	90190209	+	Frame_Shift_Del	DEL	C	C	-																															ggccattcaggagccgcgggCccccccagcctggccgcacc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:90190209delC	ENST00000394412.3	-	7	1716	c.1640delG	c.(1639-1641)gcfs	p.G547fs		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	547					microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			GAGCCGCGGGCCCCCCCAGCC	0.692											OREG0023460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	32	---	---	---	---						-	90190209	C	-	90190209	7	5	242	1	0	1	0	1	0	0	0	0	8351	739	26	0	2443	0	KIF7	15	90190209	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	17412	90190209	12341183	777	12391											
C15orf38	348110	broad.mit.edu	37	chr15	90451588	90451588	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgatttcatttcccttggcGtcgaatttacggcgatggat	7	15	10	9	5	1	0	1	0	0	0	4	4	2	1	1	3	1	0	1	3	2	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:90451588G>A	ENST00000460685.1	-	0	768				C15orf38_ENST00000357484.5_Silent_p.D75D|C15orf38-AP3S2_ENST00000398333.3_Silent_p.D75D					chromosome 15 open reading frame 38											breast(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	10	Melanoma(11;0.0171)|Lung NSC(78;0.0181)|all_lung(78;0.0384)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)			TTCCCTTGGCGTCGAATTTAC	0.582													31	61					0	0	1	0	0	A	90451588	G	A	90451588	1	1	242	1	0	0	0	0	0	0	0	0	1798	1136	40	1		1	C15orf38	15	90451588	Translation_Start_Site	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	261379	90451588	12079804	778	12392											
SV2B	9899	broad.mit.edu	37	chr15	91769874	91769874	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccgatggggtggaagtgttCgtggtgagttttgccctgcc	4	12	17	8	2	0	1	0	1	0	0	1	3	0	2	3	4	2	2	3	4	1	3	rs148654261		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr15:91769874C>T	ENST00000394232.1	+	2	851	c.381C>T	c.(379-381)ttC>ttT	p.F127F	SV2B_ENST00000557291.1_Intron|SV2B_ENST00000545111.2_Intron|SV2B_ENST00000330276.4_Silent_p.F127F	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	127					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			TGGAAGTGTTCGTGGTGAGTT	0.512													10	40					0	0	1	0	0	T	91769874	C	T	91769874	2	4	242	1	0	0	0	0	0	0	0	1	15474	883	31	1		1	SV2B	15	91769874	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1318286	91769874	10761518	779	12393											
RHBDF1	64285	broad.mit.edu	37	chr16	114720	114720	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggatggtctgtgtgatggaCgtctggcgttgcagcaccgg	5	10	17	9	4	2	1	0	1	2	0	2	3	2	3	1	5	2	3	1	5	0	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:114720C>T	ENST00000262316.6	-	3	367	c.225G>A	c.(223-225)acG>acA	p.T75T	RHBDF1_ENST00000454039.2_Silent_p.T75T	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	75					cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				GTGTGATGGACGTCTGGCGTT	0.642													5	151					0	0	1	0	0	T	114720	C	T	114720	2	4	242	1	0	0	0	0	0	0	0	1	13369	523	19	1		1	RHBDF1	16	114720	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08		114720	90240033	780	12394											
RGS11	8786	broad.mit.edu	37	chr16	321398	321398	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacccctcaccccactcacGcctcaaggcagacggaggac	10	3	8	20	2	3	1	3	0	0	1	3	3	3	3	6	3	0	1	6	3	1	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:321398G>A	ENST00000397770.3	-	11	766	c.749_splice	c.e11+1	p.A250_splice	RGS11_ENST00000316163.5_Splice_Site_p.A229_splice|RGS11_ENST00000359740.5_Splice_Site_p.A239_splice|ARHGDIG_ENST00000464609.1_Intron			O94810	RGS11_HUMAN	regulator of G-protein signaling 11	250	G protein gamma.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				CCCCACTCACGCCTCAAGGCA	0.647													24	37					0	0	1	0	0	A	321398	G	A	321398	5	1	242	1	0	0	0	0	0	0	1	0	13344	1101	38	1	682	1	RGS11	16	321398	Splice_Site	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	206678	321398	90033355	781	12395											
JMJD8	339123	broad.mit.edu	37	chr16	733031	733031	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgtcccggagccaggccagCgtggtcttgttggggtggaa	5	9	18	9	2	1	0	0	0	1	0	2	2	2	2	3	6	2	1	3	6	1	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:733031C>T	ENST00000293882.4	-	8	845	c.846G>A	c.(844-846)acG>acA	p.T282T	JMJD8_ENST00000562111.1_Intron|JMJD8_ENST00000454700.1_Silent_p.T252T|JMJD8_ENST00000412368.2_Silent_p.T233T|JMJD8_ENST00000562824.1_Silent_p.T182T			Q96S16	JMJD8_HUMAN	jumonji domain containing 8	282	JmjC.									breast(1)	1						GCCAGGCCAGCGTGGTCTTGT	0.642													39	56					0	0	1	0	0	T	733031	C	T	733031	2	4	242	1	0	0	0	0	0	0	0	1	8000	755	27	1		1	JMJD8	16	733031	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	411633	733031	89621722	782	12396											
MAPK8IP3	23162	broad.mit.edu	37	chr16	1817703	1817703	+	Frame_Shift_Del	DEL	G	G	-																															cgcaccagcatctacaggacGtggacattgagccctacgtc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:1817703delG	ENST00000250894.4	+	27	3530	c.3373delG	c.(3373-3375)tgfs	p.V1125fs	MAPK8IP3_ENST00000356010.5_Frame_Shift_Del_p.V1119fs	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	1125					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						TCTACAGGACGTGGACATTGA	0.647													13	44	---	---	---	---						-	1817703	G	-	1817703	7	5	242	1	0	1	0	1	0	0	0	0	9336	1145	40	0	3495	0	MAPK8IP3	16	1817703	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	1084672	1817703	88537050	783	12397											
TBL3	10607	broad.mit.edu	37	chr16	2025082	2025082	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactggccttcagcgccgaCggccacaccatgctcaggtc	7	7	10	17	3	3	0	3	0	0	0	4	1	3	0	4	3	2	1	4	3	0	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:2025082C>T	ENST00000568546.1	+	7	746	c.618C>T	c.(616-618)gaC>gaT	p.D206D		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	206					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						TCAGCGCCGACGGCCACACCA	0.652													9	60					0	0	1	0	0	T	2025082	C	T	2025082	2	4	242	1	0	0	0	0	0	0	0	1	15703	535	19	1		1	TBL3	16	2025082	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	207379	2025082	88329671	784	12398											
SLC9A3R2	9351	broad.mit.edu	37	chr16	2086422	2086422	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgcatagtgacaagtcccGgcccggccagtacatccgct	8	7	10	16	3	0	1	0	1	0	0	2	1	2	1	5	2	2	3	5	2	3	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:2086422G>A	ENST00000424542.2	+	3	650	c.512G>A	c.(511-513)cGg>cAg	p.R171Q	SLC9A3R2_ENST00000432365.2_Missense_Mutation_p.R171Q|SLC9A3R2_ENST00000566198.1_Missense_Mutation_p.R60Q|SLC9A3R2_ENST00000565086.1_3'UTR|SLC9A3R2_ENST00000563587.1_Missense_Mutation_p.R65Q	NM_001130012.2|NM_004785.5	NP_001123484.1|NP_004776.3	Q15599	NHRF2_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2	171	PDZ 2.				protein complex assembly	apical plasma membrane|endomembrane system|nucleus	beta-catenin binding|phosphatase binding|protein C-terminus binding|receptor binding			central_nervous_system(1)|endometrium(1)	2						GACAAGTCCCGGCCCGGCCAG	0.687													5	11					0	0	1	0	0	A	2086422	G	A	2086422	3	1	242	1	0	0	0	0	1	0	0	0	14770	1116	39	1	522	1	SLC9A3R2	16	2086422	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	61340	2086422	88268331	785	12399											
PKD1	5310	broad.mit.edu	37	chr16	2160097	2160097	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctgcacatggtaggtgcCggcctcgagcacggtgagcg	7	6	16	12	4	0	1	0	1	0	0	1	2	0	1	2	4	5	4	2	4	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:2160097C>T	ENST00000262304.4	-	15	5279	c.5071G>A	c.(5071-5073)Ggc>Agc	p.G1691S	PKD1_ENST00000423118.1_Missense_Mutation_p.G1691S	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1691	PKD 12.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TGGTAGGTGCCGGCCTCGAGC	0.687													9	13					0	0	1	0	0	T	2160097	C	T	2160097	3	4	242	1	0	0	0	0	1	0	0	0	12011	652	23	1	7968	1	PKD1	16	2160097	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	73675	2160097	88194656	786	12400											
ABCA3	21	broad.mit.edu	37	chr16	2336814	2336814	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggttgtccacgacggccagGgcagtggctggagagtggta	8	7	18	8	2	0	1	0	0	0	1	1	3	1	1	2	6	0	4	2	6	1	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:2336814G>A	ENST00000301732.5	-	22	3859	c.3159C>T	c.(3157-3159)gcC>gcT	p.A1053A	ABCA3_ENST00000382381.3_Silent_p.A995A	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1053					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				CGACGGCCAGGGCAGTGGCTG	0.632													5	193					0	0	1	0	0	A	2336814	G	A	2336814	2	1	242	1	0	0	0	0	0	0	0	1	33	1219	43	2		2	ABCA3	16	2336814	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	176717	2336814	88017939	787	12401											
SRRM2	23524	broad.mit.edu	37	chr16	2819185	2819187	+	In_Frame_Del	DEL	TCC	TCC	-																															cttcttcttcctcctcatctTcctcctcctcgtcgtcttcc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:2819185_2819187delTCC	ENST00000301740.8	+	12	8470_8472	c.7921_7923delTCC	c.(7921-7923)del	p.S2648del	SRRM2_ENST00000574593.1_3'UTR	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2648	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						ctcctcatcttcctcctcctcgt	0.591													27	90	---	---	---	---						-	2819187	TCC	-	2819185	7	5	242	1	0	1	0	1	0	0	0	0	15225	1783	62	0	7963	0	SRRM2	16	2819185	In_Frame_Del	DEL	TCC	TCGA-KK-A59V-01A-11D-A29Q-08	482371	2819185	87535568	788	12402											
CLDN9	9080	broad.mit.edu	37	chr16	3063895	3063895	+	Frame_Shift_Del	DEL	G	G	-																															ctgcactgcttatgctgggcGgggggctcctctgctgcacg																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:3063895delG	ENST00000445369.2	+	1	1439	c.532delG	c.(532-534)ggfs	p.G179fs		NM_020982.3	NP_066192.1	O95484	CLD9_HUMAN	claudin 9	179					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(2)|large_intestine(1)|lung(5)|prostate(2)	10						TATGCTGGGCGGGGGGCTCCT	0.721													29	74	---	---	---	---						-	3063895	G	-	3063895	7	5	242	1	0	1	0	1	0	0	0	0	3515	1116	39	0	534	0	CLDN9	16	3063895	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	244710	3063895	87290858	789	12403											
ZNF263	10127	broad.mit.edu	37	chr16	3339479	3339479	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcttcctgaccaggccCgaggggaggtgccctggagt	5	8	16	12	1	0	1	0	1	0	0	1	4	1	3	4	5	3	2	4	5	0	1	rs139107623		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:3339479C>T	ENST00000219069.5	+	6	1849	c.973C>T	c.(973-975)Cga>Tga	p.R325*	ZNF263_ENST00000538765.1_5'UTR|ZNF263_ENST00000574253.1_Silent_p.P158P	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN	zinc finger protein 263	325					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						TGACCAGGCCCGAGGGGAGGT	0.597													32	96					0	0	1	0	0	T	3339479	C	T	3339479	4	4	242	1	0	0	0	0	0	1	0	0	17861	644	23	1	995	1	ZNF263	16	3339479	Nonsense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	275584	3339479	87015274	790	12404											
TFAP4	7023	broad.mit.edu	37	chr16	4312619	4312619	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgctctgcatgcgtctcCgctcgttgctgttggcgatc	3	14	12	12	4	2	1	0	1	2	0	5	2	2	1	1	1	4	6	1	1	0	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:4312619C>T	ENST00000204517.6	-	2	501	c.173G>A	c.(172-174)cGg>cAg	p.R58Q		NM_003223.2	NP_003214.1	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer binding protein 4)	58					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						CATGCGTCTCCGCTCGTTGCT	0.622													30	110					0	0	1	0	0	T	4312619	C	T	4312619	3	4	242	1	0	0	0	0	1	0	0	0	15852	652	23	1	867	1	TFAP4	16	4312619	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	973140	4312619	86042134	791	12405											
TFAP4	7023	broad.mit.edu	37	chr16	4312644	4312644	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgctgttggcgatctcccGccgaatccgccgctcctggt	3	11	12	15	5	1	0	0	0	1	0	4	2	3	0	5	2	1	4	5	2	1	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:4312644G>A	ENST00000204517.6	-	2	476	c.148C>T	c.(148-150)Cgg>Tgg	p.R50W		NM_003223.2	NP_003214.1	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer binding protein 4)	50					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						GCGATCTCCCGCCGAATCCGC	0.632													35	98					0	0	1	0	0	A	4312644	G	A	4312644	3	1	242	1	0	0	0	0	1	0	0	0	15852	1086	38	1	892	1	TFAP4	16	4312644	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	25	4312644	86042109	792	12406											
NMRAL1	57407	broad.mit.edu	37	chr16	4516290	4516290	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctccacctcccctttgccGtcaaagtgcgcggcggccaa	6	8	9	18	4	1	0	1	0	0	0	4	0	4	0	7	2	2	0	7	2	2	1	rs145734906		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:4516290G>A	ENST00000574733.1	-	4	1122	c.393C>T	c.(391-393)gaC>gaT	p.D131D	NMRAL1_ENST00000574425.1_Silent_p.D131D|NMRAL1_ENST00000404295.3_Silent_p.D131D|NMRAL1_ENST00000572391.1_5'UTR|NMRAL1_ENST00000283429.6_Silent_p.D131D			Q9HBL8	NMRL1_HUMAN	NmrA-like family domain containing 1	131						nucleus|perinuclear region of cytoplasm	binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|prostate(2)|stomach(1)	15						CCCCTTTGCCGTCAAAGTGCG	0.592													13	39					0	0	1	0	0	A	4516290	G	A	4516290	2	1	242	1	0	0	0	0	0	0	0	1	10548	1136	40	1		1	NMRAL1	16	4516290	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	203646	4516290	85838463	793	12407											
SEPT12	124404	broad.mit.edu	37	chr16	4828125	4828125	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggagaggaaattcacagtgCgccatgttctccactgcaag	12	8	11	10	1	2	1	1	0	1	1	3	3	2	2	2	2	2	2	2	2	2	2	rs148619854		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:4828125C>T	ENST00000268231.8	-	9	1100	c.837G>A	c.(835-837)gcG>gcA	p.A279A	SEPT12_ENST00000396693.5_Silent_p.A233A	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN	septin 12	279					cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity	p.A279A(1)		NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						ATTCACAGTGCGCCATGTTCT	0.587													10	20					0	0	1	0	0	T	4828125	C	T	4828125	2	4	242	1	0	0	0	0	0	0	0	1	14116	755	27	1		1	SEPT12	16	4828125	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	311835	4828125	85526628	794	12408											
PPL	5493	broad.mit.edu	37	chr16	4934404	4934404	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaaccgctgtacctcgcGctcggcctccctgcgggcct	3	8	11	19	5	0	0	0	0	0	0	3	0	1	0	5	2	4	4	5	2	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:4934404G>A	ENST00000345988.2	-	22	4341	c.4252C>T	c.(4252-4254)Cgc>Tgc	p.R1418C	PPL_ENST00000590782.2_Missense_Mutation_p.R1416C	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	1418					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TGTACCTCGCGCTCGGCCTCC	0.701													24	86					0	0	1	0	0	A	4934404	G	A	4934404	3	1	242	1	0	0	0	0	1	0	0	0	12383	1087	38	1	1022	1	PPL	16	4934404	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	106279	4934404	85420349	795	12409											
SEC14L5	9717	broad.mit.edu	37	chr16	5041923	5041923	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggacgcctgccccagtcCgtgaggaggatgcccgcaac	7	5	14	15	3	0	1	0	1	0	0	1	4	1	4	5	3	3	2	5	3	1	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:5041923C>T	ENST00000251170.7	+	6	739	c.559C>T	c.(559-561)Cgt>Tgt	p.R187C		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	187						integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						TGCCCCAGTCCGTGAGGAGGA	0.667													9	8					0	0	1	0	0	T	5041923	C	T	5041923	3	4	242	1	0	0	0	0	1	0	0	0	14039	652	23	1	577	1	SEC14L5	16	5041923	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	107519	5041923	85312830	796	12410											
XYLT1	64131	broad.mit.edu	37	chr16	17252746	17252746	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcggtatcgggagagaaacGccaccaactggtcatttgtc	10	9	11	11	3	1	1	1	0	0	1	4	3	1	2	2	3	2	1	2	3	3	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:17252746G>A	ENST00000261381.6	-	6	1394	c.1310C>T	c.(1309-1311)gCg>gTg	p.A437V		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	437					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGAGAGAAACGCCACCAACTG	0.488													32	45					0	0	1	0	0	A	17252746	G	A	17252746	3	1	242	1	0	0	0	0	1	0	0	0	17523	1087	38	1	1597	1	XYLT1	16	17252746	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	12210823	17252746	73102007	797	12411											
TMC5	79838	broad.mit.edu	37	chr16	19488820	19488820	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttactattggctcaacaccGtggccctgtctggtgaagag	8	11	12	10	1	2	2	1	1	1	1	2	2	2	2	2	3	2	2	2	3	4	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:19488820G>A	ENST00000396229.2	+	13	2898	c.2149G>A	c.(2149-2151)Gtg>Atg	p.V717M	TMC5_ENST00000542583.2_Missense_Mutation_p.V717M|TMC5_ENST00000541464.1_Missense_Mutation_p.V665M|TMC5_ENST00000564959.1_Missense_Mutation_p.V400M|TMC5_ENST00000381414.4_Missense_Mutation_p.V717M|TMC5_ENST00000219821.5_Missense_Mutation_p.V471M|CTA-363E6.6_ENST00000561762.1_RNA|TMC5_ENST00000561503.1_Missense_Mutation_p.V358M	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	717						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GCTCAACACCGTGGCCCTGTC	0.413													31	64					0	0	1	0	0	A	19488820	G	A	19488820	3	1	242	1	0	0	0	0	1	0	0	0	16048	1145	40	1	2505	1	TMC5	16	19488820	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	2236074	19488820	70865933	798	12412											
ACSM5	54988	broad.mit.edu	37	chr16	20429586	20429586	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtcagtgtggcttgcatgcGgacaggtcagtaagcagggc	8	8	17	8	1	2	0	2	0	0	0	2	1	2	1	0	5	3	4	0	5	1	2	rs142598719	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:20429586G>A	ENST00000331849.4	+	3	557	c.410G>A	c.(409-411)cGg>cAg	p.R137Q	ACSM5_ENST00000575584.1_Missense_Mutation_p.R137Q	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	137					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	p.R137Q(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GCTTGCATGCGGACAGGTCAG	0.567													12	18					0	0	1	0	0	A	20429586	G	A	20429586	3	1	242	1	0	0	0	0	1	0	0	0	187	1116	39	1	416	1	ACSM5	16	20429586	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	940766	20429586	69925167	799	12413											
DNAH3	55567	broad.mit.edu	37	chr16	21156620	21156620	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcaaggagtagttgttggcGatggaatcactgggtccacg	10	10	14	7	2	2	0	2	0	0	0	3	3	3	2	1	4	0	3	1	4	3	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:21156620G>A	ENST00000261383.3	-	3	329	c.330C>T	c.(328-330)atC>atT	p.I110I	DNAH3_ENST00000575491.1_5'UTR|DNAH3_ENST00000415178.1_Silent_p.I110I	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	110	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AGTTGTTGGCGATGGAATCAC	0.557													3	46					0	0	1	0	0	A	21156620	G	A	21156620	2	1	242	1	0	0	0	0	0	0	0	1	4631	1048	37	1		1	DNAH3	16	21156620	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	727034	21156620	69198133	800	12414											
USP31	57478	broad.mit.edu	37	chr16	23080212	23080212	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctgctttgctgcgggagcGggagggctttagagagactt	7	11	16	7	2	1	2	0	0	1	2	1	5	1	4	0	3	4	3	0	3	1	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:23080212G>A	ENST00000219689.7	-	16	3213	c.3214C>T	c.(3214-3216)Cgc>Tgc	p.R1072C	USP31_ENST00000567975.1_Missense_Mutation_p.R365C	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	1072	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		CTGCGGGAGCGGGAGGGCTTT	0.557													30	90					0	0	1	0	0	A	23080212	G	A	23080212	3	1	242	1	0	0	0	0	1	0	0	0	17122	1116	39	1	848	1	USP31	16	23080212	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1923592	23080212	67274541	801	12415											
ERN2	10595	broad.mit.edu	37	chr16	23707241	23707241	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgaaagtcccgcctgccccGcggcccagcacgtccttggg	6	5	12	18	5	0	0	0	0	0	0	2	1	2	0	6	2	2	1	6	2	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:23707241G>A	ENST00000256797.4	-	14	1896	c.1728C>T	c.(1726-1728)cgC>cgT	p.R576R	ERN2_ENST00000457008.2_Silent_p.R476R	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	528	Protein kinase.				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CGCCTGCCCCGCGGCCCAGCA	0.637													8	24					0	0	1	0	0	A	23707241	G	A	23707241	2	1	242	1	0	0	0	0	0	0	0	1	5266	1074	38	1		1	ERN2	16	23707241	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	627029	23707241	66647512	802	12416											
CACNG3	10368	broad.mit.edu	37	chr16	24372743	24372744	+	Frame_Shift_Ins	INS	-	-	A																															accccgggcagcgtgactccINSaaaaaaagttactcctatgg																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:24372743_24372744insA	ENST00000005284.3	+	4	1709_1710	c.507_508insA	c.(505-510)tcaaaafs	p.SK169fs		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	169					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		AGCGTGACTCCAAAAAAAGTTA	0.441													10	196	---	---	---	---						A	24372744	-	A	24372743	7	5	242	1	0	1	1	0	0	0	0	0	2576	581	21	0	521	0	CACNG3	16	24372743	Frame_Shift_Ins	INS	-	TCGA-KK-A59V-01A-11D-A29Q-08	665502	24372743	65982010	803	12417											
RBBP6	5930	broad.mit.edu	37	chr16	24574974	24574974	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtccaggtggtggtcgaccAggctgggaacagtgagtaga	9	7	17	8	2	0	2	0	1	0	1	2	4	1	3	2	5	1	2	2	5	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:24574974A>G	ENST00000319715.4	+	13	1941	c.1509A>G	c.(1507-1509)ccA>ccG	p.P503P	RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Silent_p.P503P	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	503					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		GTGGTCGACCAGGCTGGGAAC	0.383													10	34					0	0	1	0	0	G	24574974	A	G	24574974	2	3	242	1	0	0	0	0	0	0	0	1	13155	175	7	3		3	RBBP6	16	24574974	Silent	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	202231	24574974	65779779	804	12418											
ZKSCAN2	342357	broad.mit.edu	37	chr16	25268328	25268328	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatttgcggaaggtctcagAgctatccgatccttccagaa	10	10	10	11	2	1	2	1	0	1	2	5	4	4	3	3	2	2	2	3	2	3	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:25268328A>G	ENST00000328086.7	-	1	924	c.121T>C	c.(121-123)Tct>Cct	p.S41P		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	41					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		AAGGTCTCAGAGCTATCCGAT	0.522											OREG0023690	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	35	57					0	0	1	0	0	G	25268328	A	G	25268328	3	3	242	1	0	0	0	0	1	0	0	0	17745	304	11	3	2810	3	ZKSCAN2	16	25268328	Missense_Mutation	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	693354	25268328	65086425	805	12419											
ATXN2L	11273	broad.mit.edu	37	chr16	28843606	28843606	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgtccagagcctcccatcGgctcggcagtgccaacctct	6	8	9	18	2	1	1	0	0	1	1	5	1	3	1	6	2	3	2	6	2	1	0	rs150073438		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:28843606G>A	ENST00000336783.4	+	11	1569	c.1402G>A	c.(1402-1404)Ggc>Agc	p.G468S	ATXN2L_ENST00000382686.4_Missense_Mutation_p.G468S|ATXN2L_ENST00000340394.8_Missense_Mutation_p.G468S|ATXN2L_ENST00000395547.2_Missense_Mutation_p.G468S|ATXN2L_ENST00000564304.1_Missense_Mutation_p.G474S|ATXN2L_ENST00000325215.6_Missense_Mutation_p.G468S|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000570200.1_Missense_Mutation_p.G468S	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	468						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GCCTCCCATCGGCTCGGCAGT	0.592													27	73					0	0	1	0	0	A	28843606	G	A	28843606	3	1	242	1	0	0	0	0	1	0	0	0	1210	1116	39	1	1444	1	ATXN2L	16	28843606	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	3575278	28843606	61511147	806	12420											
QPRT	23475	broad.mit.edu	37	chr16	29708606	29708606	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggcatcaccctggacaacctCccccagttctgcgggccgca	7	6	10	18	2	2	0	1	0	1	0	3	1	3	1	5	3	2	3	5	3	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:29708606C>T	ENST00000395384.4	+	4	929	c.768C>T	c.(766-768)ctC>ctT	p.L256L	QPRT_ENST00000219771.7_3'UTR|QPRT_ENST00000562473.1_Silent_p.L108L	NM_014298.3	NP_055113.2	Q15274	NADC_HUMAN	quinolinate phosphoribosyltransferase	256					protein oligomerization|quinolinate catabolic process|water-soluble vitamin metabolic process	cytosol	nicotinate-nucleotide diphosphorylase (carboxylating) activity|protein homodimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9					Niacin(DB00627)	TGGACAACCTCCCCCAGTTCT	0.637													11	38					0	0	1	0	0	T	29708606	C	T	29708606	2	4	242	1	0	0	0	0	0	0	0	1	12928	842	30	2		2	QPRT	16	29708606	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	865000	29708606	60646147	807	12421											
TAOK2	9344	broad.mit.edu	37	chr16	29996668	29996668	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgaggggtgaacgggaggaGcacagtgcacggctgcagcg	9	4	19	9	3	0	2	0	2	0	0	0	4	0	4	0	5	5	4	0	5	1	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:29996668G>A	ENST00000308893.4	+	14	2600	c.1557G>A	c.(1555-1557)gaG>gaA	p.E519E	TAOK2_ENST00000416441.2_Silent_p.E346E|TAOK2_ENST00000279394.3_Silent_p.E519E|TAOK2_ENST00000543033.1_Silent_p.E519E	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	519					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	p.E519D(2)		breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						AACGGGAGGAGCACAGTGCAC	0.672													13	29					0	0	1	0	0	A	29996668	G	A	29996668	2	1	242	1	0	0	0	0	0	0	0	1	15605	962	34	2		2	TAOK2	16	29996668	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	288062	29996668	60358085	808	12422											
TAOK2	9344	broad.mit.edu	37	chr16	30002649	30002649	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccagcctggcgtcagccGtctctgctggctcccccagg	3	8	11	19	2	2	0	1	0	1	0	5	0	4	0	6	3	3	2	6	3	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:30002649G>A	ENST00000279394.3	+	19	3313	c.2910G>A	c.(2908-2910)ccG>ccA	p.P970P		NM_004783.3	NP_004774.1	Q9UL54	TAOK2_HUMAN	TAO kinase 2	859	Leu-rich.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GGCGTCAGCCGTCTCTGCTGG	0.711													4	45					0	0	1	0	0	A	30002649	G	A	30002649	2	1	242	1	0	0	0	0	0	0	0	1	15605	1132	40	1		1	TAOK2	16	30002649	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	5981	30002649	60352104	809	12423											
ZNF48	197407	broad.mit.edu	37	chr16	30409310	30409310	+	Frame_Shift_Del	DEL	C	C	-																															ggacacaccggggggagcagCccccccgaccagtggtgccc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:30409310delC	ENST00000320159.2	+	2	1115	c.739delC	c.(739-741)ccfs	p.P248fs		NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	248					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						GGGGGAGCAGCCCCCCCGACC	0.637													29	57	---	---	---	---						-	30409310	C	-	30409310	7	5	242	1	0	1	0	1	0	0	0	0	17991	739	26	0	745	0	ZNF48	16	30409310	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	406661	30409310	59945443	810	12424											
ITGAL	0	broad.mit.edu	37	chr16	30518157	30518157	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccccgggactctccttcCgcaaggtggagatgctgaag	7	8	12	14	2	1	2	0	1	1	1	4	4	3	3	5	3	1	2	5	3	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:30518157C>T	ENST00000356798.6	+	21	2668	c.2488C>T	c.(2488-2490)Cgc>Tgc	p.R830C	ITGAL_ENST00000358164.5_Missense_Mutation_p.R746C|ITGAL_ENST00000433423.2_Intron	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	830					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	ACTCTCCTTCCGCAAGGTGGA	0.607													64	188					0	0	1	0	0	T	30518157	C	T	30518157	3	4	242	1	0	0	0	0	1	0	0	0	7930	652	23	1	2570	1	ITGAL	16	30518157	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	108847	30518157	59836596	811	12425											
ARMC5	79798	broad.mit.edu	37	chr16	31473606	31473606	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtccgctggccgagctcctGgccactgccccagatgctgc	4	7	12	18	3	0	1	0	0	0	1	2	2	2	1	6	2	4	3	6	2	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:31473606G>T	ENST00000457010.2	+	3	1439	c.738G>T	c.(736-738)ctG>ctT	p.L246L	ARMC5_ENST00000563544.1_Silent_p.L246L|ARMC5_ENST00000268314.4_Silent_p.L246L|ARMC5_ENST00000412665.2_Intron|ARMC5_ENST00000408912.3_Silent_p.L341L|ARMC5_ENST00000538189.1_Silent_p.L278L	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	246							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CCGAGCTCCTGGCCACTGCCC	0.672													17	34					1.15088e-07	1.18482e-07	1	1	0	T	31473606	G	T	31473606	2	4	242	1	0	0	0	0	0	0	0	1	953	1335	47	4		4	ARMC5	16	31473606	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	955449	31473606	58881147	812	12426											
C16orf87	388272	broad.mit.edu	37	chr16	46836915	46836915	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctatttatttctgccaaggcGactgaaaacacgaaagcctt	13	11	7	10	2	1	1	0	1	1	0	1	3	1	1	2	1	3	0	2	1	6	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:46836915G>A	ENST00000394806.2	-	3	243	c.231C>T	c.(229-231)gtC>gtT	p.V77V	C16orf87_ENST00000285697.4_Silent_p.V138V|C16orf87_ENST00000564250.1_5'UTR			Q6PH81	CP087_HUMAN	chromosome 16 open reading frame 87	138										large_intestine(4)|urinary_tract(1)	5						CTGCCAAGGCGACTGAAAACA	0.328													8	32					0	0	1	0	0	A	46836915	G	A	46836915	2	1	242	1	0	0	0	0	0	0	0	1	1847	1045	37	1		1	C16orf87	16	46836915	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	15363309	46836915	43517838	813	12427											
IRX6	79190	broad.mit.edu	37	chr16	55362955	55362955	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgcgcatctggtctctggcGcacaccgcgacagccagcgc	6	5	12	18	6	2	0	0	0	2	0	3	1	2	0	3	2	2	2	3	2	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:55362955G>A	ENST00000290552.7	+	5	2397	c.1065G>A	c.(1063-1065)gcG>gcA	p.A355A	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	355						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						GGTCTCTGGCGCACACCGCGA	0.627													30	30					0	0	1	0	0	A	55362955	G	A	55362955	2	1	242	1	0	0	0	0	0	0	0	1	7892	1074	38	1		1	IRX6	16	55362955	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	8526040	55362955	34991798	814	12428											
CDH8	1006	broad.mit.edu	37	chr16	61935343	61935344	+	Frame_Shift_Ins	INS	-	-	T																															acctgataggatatacttgaINStttttttgctcccaggatcc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:61935343_61935344insT	ENST00000577390.1	-	3	1240_1241	c.286_287insA	c.(286-288)caafs	p.Q96fs	CDH8_ENST00000577730.1_Frame_Shift_Ins_p.Q96fs|CDH8_ENST00000584337.1_Frame_Shift_Ins_p.Q96fs|CDH8_ENST00000299345.6_Frame_Shift_Ins_p.Q96fs	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	96	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GATATACTTGATTTTTTTGCTC	0.376													17	65	---	---	---	---						T	61935344	-	T	61935343	7	5	242	1	0	1	1	0	0	0	0	0	3138	333	12	0	2152	0	CDH8	16	61935343	Frame_Shift_Ins	INS	-	TCGA-KK-A59V-01A-11D-A29Q-08	6572388	61935343	28419410	815	12429											
CES3	23491	broad.mit.edu	37	chr16	67006865	67006865	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagaagttcagggaggcctgGatgcagttctggtcagagac	10	8	15	8	0	3	2	2	0	1	2	3	5	3	4	1	4	1	3	1	4	1	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:67006865G>T	ENST00000303334.4	+	13	1700	c.1629G>T	c.(1627-1629)tgG>tgT	p.W543C	CES3_ENST00000394037.1_Missense_Mutation_p.W540C|CES3_ENST00000543856.1_Missense_Mutation_p.W182C	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	543						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	p.W543*(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		GGGAGGCCTGGATGCAGTTCT	0.577													27	43					2.44723e-14	2.55836e-14	1	1	0	T	67006865	G	T	67006865	3	4	242	1	0	0	0	0	1	0	0	0	3293	1183	41	4	1679	4	CES3	16	67006865	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	5071522	67006865	23347888	816	12430											
CDH1	999	broad.mit.edu	37	chr16	68856088	68856088	+	Frame_Shift_Del	DEL	C	C	-																															ttcacagcagaactaacacaCggggcgagtgccaactggac																								rs33969373	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:68856088delC	ENST00000261769.5	+	12	2087	c.1896delC	c.(1894-1896)cafs	p.H632fs	RP11-354M1.2_ENST00000563916.1_RNA|CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Frame_Shift_Del_p.H571fs	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	632	Cadherin 5.				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding			NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		AACTAACACACGGGGCGAGTG	0.483			"Mis, N, F, S"		"lobular breast, gastric"	gastric			Hereditary Diffuse Gastric Cancer				7	82	---	---	---	---						-	68856088	C	-	68856088	7	5	242	1	0	1	0	1	0	0	0	0	3117	535	19	0	1942	0	CDH1	16	68856088	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	1849223	68856088	21498665	817	12431											
PHLPP2	23035	broad.mit.edu	37	chr16	71748731	71748731	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatatcaagagaaagaaatcGttagctagaacatctgactg	18	9	8	6	1	2	4	1	1	1	3	3	5	2	4	0	0	2	2	0	0	8	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:71748731G>A	ENST00000393524.2	-	0	701				PHLPP2_ENST00000568954.1_Intron|PHLPP2_ENST00000567016.1_Intron			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2							cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						GAAAGAAATCGTTAGCTAGAA	0.388													9	8					0	0	1	0	0	A	71748731	G	A	71748731	1	1	242	1	0	0	0	0	0	0	0	0	11903	1160	40	1		1	PHLPP2	16	71748731	Translation_Start_Site	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	2892643	71748731	18606022	818	12432											
ZFHX3	463	broad.mit.edu	37	chr16	72829831	72829831	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaccctcagctggtagtcCgtaaaccttgttcttgaaga	11	11	9	10	1	2	3	1	1	1	2	3	3	3	3	3	1	2	4	3	1	5	5	rs139895950	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:72829831C>T	ENST00000268489.5	-	9	7422	c.6750G>A	c.(6748-6750)acG>acA	p.T2250T	ZFHX3_ENST00000397992.5_Silent_p.T1336T	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2250					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GCTGGTAGTCCGTAAACCTTG	0.512													40	95					0	0	1	0	0	T	72829831	C	T	72829831	2	4	242	1	0	0	0	0	0	0	0	1	17692	639	23	1		1	ZFHX3	16	72829831	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1081100	72829831	17524922	819	12433											
KLHL36	79786	broad.mit.edu	37	chr16	84693388	84693388	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctccatgaaccagcgccGtgtggatttctaccttgcct	6	11	10	14	2	1	1	0	1	1	0	2	2	2	2	6	2	4	0	6	2	2	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:84693388G>A	ENST00000564996.1	+	4	1301	c.1160G>A	c.(1159-1161)cGt>cAt	p.R387H	KLHL36_ENST00000258157.5_Intron	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	387										endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						AACCAGCGCCGTGTGGATTTC	0.577													17	44					0	0	1	0	0	A	84693388	G	A	84693388	3	1	242	1	0	0	0	0	1	0	0	0	8432	1145	40	1	1170	1	KLHL36	16	84693388	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	11863557	84693388	5661365	820	12434											
KIAA0513	9764	broad.mit.edu	37	chr16	85101007	85101007	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagaagatcttctctggaggGtaaggggcctgtgtggacga	9	9	17	6	1	2	2	0	0	2	2	3	6	2	4	1	5	0	1	1	5	2	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:85101007G>T	ENST00000566428.1	+	2	960		c.e2+1		KIAA0513_ENST00000258180.3_Splice_Site|KIAA0513_ENST00000567328.1_Splice_Site|KIAA0513_ENST00000538274.1_Splice_Site			O60268	K0513_HUMAN	KIAA0513							cytoplasm				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		TCTCTGGAGGGTAAGGGGCCT	0.632													14	41					2.61681e-11	2.72249e-11	1	1	0	T	85101007	G	T	85101007	5	4	242	1	0	0	0	0	0	0	1	0	8223	1275	44	4	332	4	KIAA0513	16	85101007	Splice_Site	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	407619	85101007	5253746	821	12435											
ZFPM1	161882	broad.mit.edu	37	chr16	88555465	88555465	+	Frame_Shift_Del	DEL	C	C	-																															actcacccccaccgctgccgCcccccacatccccaggaggc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:88555465delC	ENST00000319555.3	+	3	494	c.172delC	c.(172-174)ccfs	p.P59fs	ZFPM1_ENST00000569086.1_3'UTR	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	59					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|transcription factor binding|zinc ion binding			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		ACCGCTGCCGCCCCCCACATC	0.652													15	41	---	---	---	---						-	88555465	C	-	88555465	7	5	242	1	0	1	0	1	0	0	0	0	17715	739	26	0	182	0	ZFPM1	16	88555465	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	3454458	88555465	1799288	822	12436											
ZC3H18	124245	broad.mit.edu	37	chr16	88689746	88689746	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagctcgttctcaggaagccGgtccaggtatgtccccaggg	7	8	13	13	2	1	0	1	0	1	0	5	1	3	1	4	4	2	3	4	4	2	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:88689746G>A	ENST00000301011.5	+	10	1987	c.1787G>A	c.(1786-1788)cGg>cAg	p.R596Q	ZC3H18_ENST00000452588.2_Missense_Mutation_p.R620Q	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	596	Ser-rich.					nucleus	nucleic acid binding|zinc ion binding	p.R596L(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		TCAGGAAGCCGGTCCAGGTAT	0.627													14	17					0	0	1	0	0	A	88689746	G	A	88689746	3	1	242	1	0	0	0	0	1	0	0	0	17627	1116	39	1	1821	1	ZC3H18	16	88689746	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	134281	88689746	1665007	823	12437											
GALNS	2588	broad.mit.edu	37	chr16	88898438	88898438	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacgtgccctggccaccatgCgagggcaggctccctcatcc	6	6	12	17	2	1	0	1	0	0	0	3	2	3	0	5	3	2	2	5	3	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:88898438C>T	ENST00000268695.5	-	9	1058	c.970G>A	c.(970-972)Gca>Aca	p.A324T	GALNS_ENST00000542788.1_Missense_Mutation_p.A249T	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfate sulfatase	324						lysosome	metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)	Hyaluronidase(DB00070)	GGCCACCATGCGAGGGCAGGC	0.672													12	45					0	0	1	0	0	T	88898438	C	T	88898438	3	4	242	1	0	0	0	0	1	0	0	0	6246	768	27	1	622	1	GALNS	16	88898438	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	208692	88898438	1456315	824	12438											
CDH15	1013	broad.mit.edu	37	chr16	89245892	89245892	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtacccctggcgccgggcGcctgccctgagccgcgtgcg	2	6	15	18	6	0	1	0	1	0	0	0	1	0	1	6	2	4	1	6	2	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:89245892G>A	ENST00000289746.2	+	2	176	c.111G>A	c.(109-111)gcG>gcA	p.A37A	CDH15_ENST00000521087.1_3'UTR	NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	37					adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GGCGCCGGGCGCCTGCCCTGA	0.657													35	87					0	0	1	0	0	A	89245892	G	A	89245892	2	1	242	1	0	0	0	0	0	0	0	1	3122	1074	38	1		1	CDH15	16	89245892	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	347454	89245892	1108861	825	12439											
ZNF276	92822	broad.mit.edu	37	chr16	89799939	89799939	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttaccagggctgcacggccGtgtaccgaggcgctgacggc	6	6	15	14	5	0	1	0	1	0	0	0	2	0	1	3	4	3	4	3	4	2	2	rs141797932		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr16:89799939G>A	ENST00000289816.5	+	8	1417	c.1105G>A	c.(1105-1107)Gtg>Atg	p.V369M	ZNF276_ENST00000568064.1_Missense_Mutation_p.V352M|ZNF276_ENST00000446326.2_Missense_Mutation_p.V230M|ZNF276_ENST00000443381.2_Missense_Mutation_p.V444M	NM_152287.3	NP_689500.2	Q8N554	ZN276_HUMAN	zinc finger protein 276	444					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CTGCACGGCCGTGTACCGAGG	0.642													44	78					0	0	1	0	0	A	89799939	G	A	89799939	3	1	242	1	0	0	0	0	1	0	0	0	17869	1145	40	1	1360	1	ZNF276	16	89799939	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	554047	89799939	554814	826	12440											
WDR81	124997	broad.mit.edu	37	chr17	1637102	1637102	+	Frame_Shift_Del	DEL	G	G	-																															ccatctcgggggtgggtggcGggggcctgggcagcgggagc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:1637102delG	ENST00000409644.1	+	7	4771	c.4771delG	c.(4771-4773)ggfs	p.G1592fs	WDR81_ENST00000309182.5_Frame_Shift_Del_p.G541fs|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000419248.1_Frame_Shift_Del_p.G365fs|WDR81_ENST00000437219.2_Frame_Shift_Del_p.G389fs|WDR81_ENST00000446363.1_Frame_Shift_Del_p.G231fs|WDR81_ENST00000545662.1_Frame_Shift_Del_p.G223fs	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	365										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GGTGGGTGGCGGGGGCCTGGG	0.682													29	83	---	---	---	---						-	1637102	G	-	1637102	7	5	242	1	0	1	0	1	0	0	0	0	17390	1116	39	0	4859	0	WDR81	17	1637102	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08		1637102	79558108	827	12441											
SERPINF1	5176	broad.mit.edu	37	chr17	1673175	1673175	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaccccgacagcacaggggcGctggtggaggaggaggatcc	9	3	18	11	2	0	0	0	0	0	0	1	6	1	4	3	7	1	2	3	7	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:1673175G>A	ENST00000254722.4	+	3	277	c.114G>A	c.(112-114)gcG>gcA	p.A38A	SERPINF1_ENST00000571870.1_3'UTR	NM_002615.5	NP_002606.3	P36955	PEDF_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1	38					cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis	extracellular space|melanosome	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						GCACAGGGGCGCTGGTGGAGG	0.602													42	118					0	0	1	0	0	A	1673175	G	A	1673175	2	1	242	1	0	0	0	0	0	0	0	1	14168	1074	38	1		1	SERPINF1	17	1673175	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	36073	1673175	79522035	828	12442											
HIC1	3090	broad.mit.edu	37	chr17	1961767	1961767	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagccacatgaagatgcacGccgtggggggcgcggccggc	7	4	17	13	5	1	2	1	1	0	1	1	2	1	2	3	5	2	1	3	5	1	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:1961767G>A	ENST00000399849.2	+	2	1943	c.1783G>A	c.(1783-1785)Gcc>Acc	p.A595T	HIC1_ENST00000322941.3_Missense_Mutation_p.A614T	NM_006497.3	NP_006488.2	Q14526	HIC1_HUMAN	hypermethylated in cancer 1	614					multicellular organismal development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)|lung(1)|prostate(1)	3				READ - Rectum adenocarcinoma(1115;0.236)		GAAGATGCACGCCGTgggggg	0.726													5	18					0	0	1	0	0	A	1961767	G	A	1961767	3	1	242	1	0	0	0	0	1	0	0	0	7142	1087	38	1	1846	1	HIC1	17	1961767	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	288592	1961767	79233443	829	12443											
SMG6	23293	broad.mit.edu	37	chr17	2196168	2196168	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcagaggtaaaagtacctgCgtgctttcccataattcgct	11	11	9	10	2	0	1	0	0	0	1	2	1	1	1	2	1	4	5	2	1	4	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:2196168C>T	ENST00000544865.1	-	5	2672	c.2162G>A	c.(2161-2163)cGc>cAc	p.R721H	SMG6_ENST00000263073.5_Missense_Mutation_p.R752H			Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	752					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						AAAGTACCTGCGTGCTTTCCC	0.478													15	54					0	0	1	0	0	T	2196168	C	T	2196168	3	4	242	1	0	0	0	0	1	0	0	0	14851	768	27	1	2064	1	SMG6	17	2196168	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	234401	2196168	78999042	830	12444											
SGSM2	9905	broad.mit.edu	37	chr17	2280072	2280072	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctatgtgcagggcatgtgCgatctgctggcgcctctcct	4	11	14	12	2	2	0	0	0	2	0	3	1	2	0	2	3	3	4	2	3	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:2280072C>T	ENST00000268989.3	+	20	2832	c.2655C>T	c.(2653-2655)tgC>tgT	p.C885C	SGSM2_ENST00000574563.1_Silent_p.C840C|SGSM2_ENST00000426855.2_Silent_p.C840C|RP1-59D14.5_ENST00000574290.1_RNA	NM_014853.2	NP_055668.2	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	840	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		AGGGCATGTGCGATCTGCTGG	0.632													63	156					0	0	1	0	0	T	2280072	C	T	2280072	2	4	242	1	0	0	0	0	0	0	0	1	14277	776	27	1		1	SGSM2	17	2280072	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	83904	2280072	78915138	831	12445											
TAX1BP3	30851	broad.mit.edu	37	chr17	3567066	3567066	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacagcatggactgctgcacGgccttctgcagcgactgccg	7	7	13	14	3	1	0	0	0	1	0	1	3	1	1	2	2	6	4	2	2	0	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:3567066G>A	ENST00000225525.3	-	4	506	c.351C>T	c.(349-351)gcC>gcT	p.A117A	RP11-48B14.2_ENST00000550383.1_3'UTR	NM_014604.3	NP_055419.1	O14907	TX1B3_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 3	117					activation of Cdc42 GTPase activity|negative regulation of protein localization at cell surface|negative regulation of Wnt receptor signaling pathway|Rho protein signal transduction|Wnt receptor signaling pathway	cytoplasm|nucleus	protein C-terminus binding	p.A117A(1)		endometrium(1)	1				COAD - Colon adenocarcinoma(5;0.0761)		ACTGCTGCACGGCCTTCTGCA	0.632													11	21					0	0	1	0	0	A	3567066	G	A	3567066	2	1	242	1	0	0	0	0	0	0	0	1	15652	1103	39	1		1	TAX1BP3	17	3567066	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1286994	3567066	77628144	832	12446											
PELP1	27043	broad.mit.edu	37	chr17	4575245	4575245	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccccacgctcctcctccGtccctggctcctccacttcc	3	9	5	24	2	0	0	0	0	0	0	7	0	7	0	9	1	1	2	9	1	0	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:4575245G>A	ENST00000301396.4	-	16	3698	c.3473C>T	c.(3472-3474)aCg>aTg	p.T1158M	PELP1_ENST00000269230.7_Missense_Mutation_p.T924M|PELP1_ENST00000436683.2_Intron|PELP1_ENST00000574876.1_Missense_Mutation_p.T1014M|PELP1_ENST00000572293.1_Missense_Mutation_p.T1064M			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	1014					transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						CTCCTCCTCCGTCCCTGGCTC	0.677													3	21					0	0	1	0	0	A	4575245	G	A	4575245	3	1	242	1	0	0	0	0	1	0	0	0	11772	1145	40	1	359	1	PELP1	17	4575245	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1008179	4575245	76619965	833	12447											
DHX33	56919	broad.mit.edu	37	chr17	5365760	5365760	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatgacacagctgtatttcCgaagcaaagagtctgaaatt	16	10	8	7	1	1	3	0	2	1	1	2	4	2	3	1	0	2	3	1	0	5	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:5365760C>T	ENST00000225296.3	-	3	757	c.557G>A	c.(556-558)cGg>cAg	p.R186Q	DHX33_ENST00000433302.3_Intron	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	186	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GCTGTATTTCCGAAGCAAAGA	0.458													29	75					0	0	1	0	0	T	5365760	C	T	5365760	3	4	242	1	0	0	0	0	1	0	0	0	4534	652	23	1	1606	1	DHX33	17	5365760	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	790515	5365760	75829450	834	12448											
SLC16A13	201232	broad.mit.edu	37	chr17	6941923	6941923	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatttctgacctcgtggggCgtgtggtctccggatggctg	3	13	15	10	3	2	1	0	1	2	0	4	2	2	2	2	5	0	1	2	5	1	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:6941923C>T	ENST00000308027.6	+	3	1104	c.796C>T	c.(796-798)Cgt>Tgt	p.R266C		NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN	solute carrier family 16, member 13	266						integral to membrane|plasma membrane	symporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						CCTCGTGGGGCGTGTGGTCTC	0.602													6	107					0	0	1	0	0	T	6941923	C	T	6941923	3	4	242	1	0	0	0	0	1	0	0	0	14461	768	27	1	806	1	SLC16A13	17	6941923	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1576163	6941923	74253287	835	12449											
ASGR2	433	broad.mit.edu	37	chr17	7005025	7005025	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acttccacccagctcgtgccCgtgccaattatctggctgag	7	10	9	15	2	1	1	0	1	1	0	3	1	2	1	4	1	3	2	4	1	2	2	rs144253358		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:7005025C>T	ENST00000380952.2	-	9	1069	c.805G>A	c.(805-807)Ggg>Agg	p.G269R	ASGR2_ENST00000355035.5_Missense_Mutation_p.G269R|ASGR2_ENST00000254850.7_Missense_Mutation_p.G245R|ASGR2_ENST00000446679.2_Missense_Mutation_p.G250R	NM_001181.4|NM_001201352.1|NM_080912.3	NP_001172.1|NP_001188281.1|NP_550434.1	P07307	ASGR2_HUMAN	asialoglycoprotein receptor 2	269	C-type lectin.				cell surface receptor linked signaling pathway|endocytosis	focal adhesion|integral to membrane|nucleolus	asialoglycoprotein receptor activity|protein binding|sugar binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18					Antihemophilic Factor(DB00025)	AGCTCGTGCCCGTGCCAATTA	0.567													17	37					0	0	1	0	0	T	7005025	C	T	7005025	3	4	242	1	0	0	0	0	1	0	0	0	1039	652	23	1	134	1	ASGR2	17	7005025	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	63102	7005025	74190185	836	12450											
DNAH2	146754	broad.mit.edu	37	chr17	7682662	7682662	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctgtctgccctggctgcCggcctcacccatttccattt	4	13	7	17	1	2	0	1	0	1	0	4	0	4	0	6	2	2	1	6	2	0	2	rs144218986		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:7682662C>T	ENST00000572933.1	+	36	7103	c.5643C>T	c.(5641-5643)gcC>gcT	p.A1881A	DNAH2_ENST00000389173.2_Silent_p.A1881A			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1881	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCCTGGCTGCCGGCCTCACCC	0.532													11	31					0	0	1	0	0	T	7682662	C	T	7682662	2	4	242	1	0	0	0	0	0	0	0	1	4630	639	23	1		1	DNAH2	17	7682662	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	677637	7682662	73512548	837	12451											
DNAH2	146754	broad.mit.edu	37	chr17	7700833	7700833	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcatctctgtcccagcaagCgtcctcctatctttggtgag	7	13	8	13	1	3	1	1	1	2	0	7	1	6	1	3	1	2	1	3	1	2	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:7700833C>T	ENST00000572933.1	+	52	9525	c.8065C>T	c.(8065-8067)Cgt>Tgt	p.R2689C	DNAH2_ENST00000389173.2_Missense_Mutation_p.R2689C			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2689					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TCCCAGCAAGCGTCCTCCTAT	0.532													4	189					0	0	1	0	0	T	7700833	C	T	7700833	3	4	242	1	0	0	0	0	1	0	0	0	4630	768	27	1	8267	1	DNAH2	17	7700833	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	18171	7700833	73494377	838	12452											
KDM6B	23135	broad.mit.edu	37	chr17	7753465	7753465	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgaaatcccatcacagtgAtccggggcctggcgggctcc	7	7	12	15	3	1	1	1	1	0	0	5	2	4	1	4	4	0	1	4	4	1	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:7753465A>T	ENST00000254846.5	+	13	4032	c.3643A>T	c.(3643-3645)Atc>Ttc	p.I1215F	KDM6B_ENST00000448097.2_Missense_Mutation_p.I1215F	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1215					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CATCACAGTGATCCGGGGCCT	0.592													9	40					0	0	1	0	0	T	7753465	A	T	7753465	3	4	242	1	0	0	0	0	1	0	0	0	8181	333	12	5	3681	5	KDM6B	17	7753465	Missense_Mutation	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	52632	7753465	73441745	839	12453											
KDM6B	23135	broad.mit.edu	37	chr17	7756414	7756414	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccagggccgtgtcaaggaCgagccagcctactactgcaa	11	6	11	13	2	1	0	1	0	0	0	1	2	1	1	4	2	6	1	4	2	5	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:7756414C>T	ENST00000254846.5	+	21	5096	c.4707C>T	c.(4705-4707)gaC>gaT	p.D1569D	KDM6B_ENST00000448097.2_Silent_p.D1569D	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1569					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						GTGTCAAGGACGAGCCAGCCT	0.627													7	37					0	0	1	0	0	T	7756414	C	T	7756414	2	4	242	1	0	0	0	0	0	0	0	1	8181	535	19	1		1	KDM6B	17	7756414	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	2949	7756414	73438796	840	12454											
CNTROB	116840	broad.mit.edu	37	chr17	7837803	7837803	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggatcctctcattcctggcGctggctcagagagacgggaa	8	8	14	11	2	2	2	2	0	1	2	5	5	4	4	2	4	0	2	2	4	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:7837803G>A	ENST00000380262.3	+	3	1301	c.376G>A	c.(376-378)Gct>Act	p.A126T	CNTROB_ENST00000563694.1_Missense_Mutation_p.A126T|CNTROB_ENST00000565740.1_Missense_Mutation_p.A126T|CNTROB_ENST00000380255.3_Missense_Mutation_p.A126T	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	126					centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				CATTCCTGGCGCTGGCTCAGA	0.542													13	26					0	0	1	0	0	A	7837803	G	A	7837803	3	1	242	1	0	0	0	0	1	0	0	0	3674	1087	38	1	386	1	CNTROB	17	7837803	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	81389	7837803	73357407	841	12455											
ARHGEF15	22899	broad.mit.edu	37	chr17	8215392	8215392	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccttcctgcagcaacaccccCcacgcagaagccccctcgga	9	4	7	21	2	0	1	0	0	0	1	2	2	1	2	7	1	4	3	7	1	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:8215392C>T	ENST00000361926.3	+	2	145	c.35C>T	c.(34-36)cCc>cTc	p.P12L	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.P12L	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	12	Pro-rich.				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						GCAACACCCCCCACGCAGAAG	0.637													10	85					0	0	1	0	0	T	8215392	C	T	8215392	3	4	242	1	0	0	0	0	1	0	0	0	895	623	22	2	37	2	ARHGEF15	17	8215392	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	377589	8215392	72979818	842	12456											
NTN1	9423	broad.mit.edu	37	chr17	9066240	9066240	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actgtcgccacaacaccgccGgccgccactgccattactgc	8	6	8	19	4	0	0	0	0	0	0	1	0	0	0	6	1	4	0	6	1	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:9066240G>A	ENST00000173229.2	+	3	1236	c.1129G>A	c.(1129-1131)Ggc>Agc	p.G377S	NTN1_ENST00000538852.1_Missense_Mutation_p.G377S|NTN1_ENST00000546090.1_Missense_Mutation_p.G377S	NM_004822.2	NP_004813.2	O95631	NET1_HUMAN	netrin 1	377	Laminin EGF-like 2.				apoptosis|axon guidance		protein binding		NTN1/ACLY(2)	central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(5)	13						CAACACCGCCGGCCGCCACTG	0.647													5	18					0	0	1	0	0	A	9066240	G	A	9066240	3	1	242	1	0	0	0	0	1	0	0	0	10748	1116	39	1	1135	1	NTN1	17	9066240	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	850848	9066240	72128970	843	12457											
RAI1	10743	broad.mit.edu	37	chr17	17698444	17698444	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactacagcagcttttgacTgtttcccggacacaaccgct	9	10	7	15	2	0	1	0	1	0	0	1	2	1	2	3	1	4	4	3	1	2	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:17698444T>C	ENST00000353383.1	+	3	2651	c.2182T>C	c.(2182-2184)Tgt>Cgt	p.C728R	RAI1_ENST00000261641.6_Missense_Mutation_p.C728R	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	728						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		AGCTTTTGACTGTTTCCCGGA	0.597													34	93					0	0	1	0	0	C	17698444	T	C	17698444	3	2	242	1	0	0	0	0	1	0	0	0	13059	1580	55	3	2184	3	RAI1	17	17698444	Missense_Mutation	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	8632204	17698444	63496766	844	12458											
ALKBH5	54890	broad.mit.edu	37	chr17	18088302	18088302	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtgctttccctgccggtgCgcaggggaagcgtgactgtg	5	9	16	11	3	0	1	0	1	0	0	1	2	1	2	2	3	4	2	2	3	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:18088302C>T	ENST00000399138.4	+	1	750	c.745C>T	c.(745-747)Cgc>Tgc	p.R249C	ALKBH5_ENST00000541285.1_Intron	NM_017758.3	NP_060228.3	Q6P6C2	ALKB5_HUMAN	alkB, alkylation repair homolog 5 (E. coli)	249						integral to membrane	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|skin(1)	10	all_neural(463;0.228)					CCTGCCGGTGCGCAGGGGAAG	0.637													48	118					0	0	1	0	0	T	18088302	C	T	18088302	3	4	242	1	0	0	0	0	1	0	0	0	526	768	27	1	747	1	ALKBH5	17	18088302	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	389858	18088302	63106908	845	12459											
FLII	2314	broad.mit.edu	37	chr17	18150040	18150042	+	In_Frame_Del	DEL	CTC	CTC	-																															aagtcctcctctggctgcttCtcctctgcctcagcggttgc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:18150040_18150042delCTC	ENST00000327031.4	-	23	3142_3144	c.2917_2919delGAG	c.(2917-2919)del	p.E973del	FLII_ENST00000579294.1_In_Frame_Del_p.E962del|FLII_ENST00000578558.1_Intron|FLII_ENST00000545457.2_In_Frame_Del_p.E918del|FLII_ENST00000379450.4_In_Frame_Del_p.E887del	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	973	Glu-rich.				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					ctggctgcttctcctctgcctca	0.571													8	17	---	---	---	---						-	18150042	CTC	-	18150040	7	5	242	1	0	1	0	1	0	0	0	0	5958	912	32	0	922	0	FLII	17	18150040	In_Frame_Del	DEL	CTC	TCGA-KK-A59V-01A-11D-A29Q-08	61738	18150040	63045170	846	12460											
SMCR7	0	broad.mit.edu	37	chr17	18167396	18167396	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgggccgtgcgcaggaCgcagcttgagttctgccccc	4	8	14	15	3	1	1	0	1	1	0	1	2	1	2	3	2	4	5	3	2	0	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:18167396C>T	ENST00000323019.4	+	4	894	c.683C>T	c.(682-684)aCg>aTg	p.T228M	SMCR7_ENST00000395704.4_Silent_p.D203D|SMCR7_ENST00000577216.1_3'UTR|SMCR7_ENST00000395706.2_Missense_Mutation_p.T239M	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	SMCR7_HUMAN		228						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(4)	9	all_neural(463;0.228)					GTGCGCAGGACGCAGCTTGAG	0.716													4	6					0	0	1	0	0	T	18167396	C	T	18167396	3	4	242	1	0	0	0	0	1	0	0	0	14844	536	19	1	730	1	SMCR7	17	18167396	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	17356	18167396	63027814	847	12461											
SLC5A10	125206	broad.mit.edu	37	chr17	18874469	18874469	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acccccacacaggggacctgCcgtggaccgggatgaccttt	8	6	12	15	2	0	1	0	1	0	0	0	4	0	4	6	4	1	0	6	4	0	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:18874469C>T	ENST00000317977.6	+	7	1106	c.535C>T	c.(535-537)Ccg>Tcg	p.P179S	SLC5A10_ENST00000395647.2_Missense_Mutation_p.P262S|FAM83G_ENST00000345041.4_3'UTR|SLC5A10_ENST00000417251.2_Missense_Mutation_p.P262S|SLC5A10_ENST00000395645.3_Missense_Mutation_p.P262S|SLC5A10_ENST00000395642.1_Missense_Mutation_p.P179S|FAM83G_ENST00000388995.6_3'UTR|SLC5A10_ENST00000395643.2_Missense_Mutation_p.P235S|FAM83G_ENST00000585154.2_3'UTR			A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	262					sodium ion transport|transmembrane transport	integral to membrane	transporter activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						AGGGGACCTGCCGTGGACCGG	0.637													21	51					0	0	1	0	0	T	18874469	C	T	18874469	3	4	242	1	0	0	0	0	1	0	0	0	14717	739	26	2	814	2	SLC5A10	17	18874469	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	707073	18874469	62320741	848	12462											
SLC5A10	125206	broad.mit.edu	37	chr17	18916805	18916805	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccaacatcgcctaccccaaGctggtcatggaactgatgcc	10	8	8	15	1	1	1	1	1	0	0	3	2	2	2	5	2	5	1	5	2	4	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:18916805G>A	ENST00000317977.6	+	9	1435	c.864G>A	c.(862-864)aaG>aaA	p.K288K	SLC5A10_ENST00000395647.2_Silent_p.K371K|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395645.3_Silent_p.K355K|SLC5A10_ENST00000395642.1_Silent_p.K288K|SLC5A10_ENST00000395643.2_Silent_p.K328K			A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	355					sodium ion transport|transmembrane transport	integral to membrane	transporter activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						CCTACCCCAAGCTGGTCATGG	0.652													21	58					0	0	1	0	0	A	18916805	G	A	18916805	2	1	242	1	0	0	0	0	0	0	0	1	14717	962	34	2		2	SLC5A10	17	18916805	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	42336	18916805	62278405	849	12463											
KIAA0100	9703	broad.mit.edu	37	chr17	26945913	26945913	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagtaaaactcagtgcgacGgaccacactcacatcttctt	14	9	6	12	2	4	0	2	0	2	0	4	2	4	1	1	1	2	1	1	1	3	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:26945913G>A	ENST00000528896.2	-	32	5793	c.5719C>T	c.(5719-5721)Cgt>Tgt	p.R1907C	KIAA0100_ENST00000389003.3_Missense_Mutation_p.R1764C|KIAA0100_ENST00000579924.2_5'UTR|KIAA0100_ENST00000544884.1_Missense_Mutation_p.R1764C	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1907						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TCAGTGCGACGGACCACACTC	0.512													17	84					0	0	1	0	0	A	26945913	G	A	26945913	3	1	242	1	0	0	0	0	1	0	0	0	8196	1116	39	1	1020	1	KIAA0100	17	26945913	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	8029108	26945913	54249297	850	12464											
SEZ6	124925	broad.mit.edu	37	chr17	27285095	27285095	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgtgcactagctcaggctgCgatgggctcttccagccatt	6	10	11	14	2	2	0	1	0	1	0	3	1	3	0	3	2	4	4	3	2	1	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:27285095C>T	ENST00000317338.12	-	11	2600	c.2172G>A	c.(2170-2172)tcG>tcA	p.S724S	PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000360295.9_Silent_p.S724S|SEZ6_ENST00000442608.3_Silent_p.S724S|SEZ6_ENST00000335960.6_Intron			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	724	Sushi 3.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			GCTCAGGCTGCGATGGGCTCT	0.612													18	80					0	0	1	0	0	T	27285095	C	T	27285095	2	4	242	1	0	0	0	0	0	0	0	1	14196	755	27	1		1	SEZ6	17	27285095	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	339182	27285095	53910115	851	12465											
MYO18A	399687	broad.mit.edu	37	chr17	27437499	27437499	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgacttctttttgacagcCgccatgcctgtggtaaaggt	8	13	11	9	1	1	2	0	2	1	0	1	2	1	2	3	2	2	1	3	2	2	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:27437499C>T	ENST00000527372.1	-	18	3222	c.3042G>A	c.(3040-3042)gcG>gcA	p.A1014A	MYO18A_ENST00000533112.1_Silent_p.A1014A|MYO18A_ENST00000354329.4_Silent_p.A1014A|MYO18A_ENST00000531253.1_Silent_p.A1014A	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1014	Myosin head-like.			A -> V (in Ref. 1; BAD66838).	anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TTTTGACAGCCGCCATGCCTG	0.647													3	11					0	0	1	0	0	T	27437499	C	T	27437499	2	4	242	1	0	0	0	0	0	0	0	1	10113	639	23	1		1	MYO18A	17	27437499	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	152404	27437499	53757711	852	12466											
SSH2	85464	broad.mit.edu	37	chr17	27959375	27959375	+	Frame_Shift_Del	DEL	G	G	-																															tgaggacaaatgaatgttctGggggggcttcatcacttttc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:27959375delG	ENST00000269033.3	-	15	2907	c.2756delC	c.(2755-2757)cafs	p.P919fs	SSH2_ENST00000540801.1_Frame_Shift_Del_p.P946fs|RP11-68I3.2_ENST00000581474.1_RNA	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	919					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGAATGTTCTGGGGGGGCTTC	0.483													14	391	---	---	---	---						-	27959375	G	-	27959375	7	5	242	1	0	1	0	1	0	0	0	0	15241	1348	47	0	1519	0	SSH2	17	27959375	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	521876	27959375	53235835	853	12467											
ATAD5	79915	broad.mit.edu	37	chr17	29204438	29204438	+	Frame_Shift_Del	DEL	A	A	-																															tattgtatttatgcaggaatAaaaaattcttttgaacagaa																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:29204438delA	ENST00000321990.4	+	16	4167	c.3789delA	c.(3787-3789)atfs	p.I1263fs		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1263					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				ATGCAGGAATAAAAAATTCTT	0.299													14	34	---	---	---	---						-	29204438	A	-	29204438	7	5	242	1	0	1	0	1	0	0	0	0	1075	352	13	0	3851	0	ATAD5	17	29204438	Frame_Shift_Del	DEL	A	TCGA-KK-A59V-01A-11D-A29Q-08	1245063	29204438	51990772	854	12468											
C17orf75	64149	broad.mit.edu	37	chr17	30666926	30666926	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgcagctctggctccacttCggatggtagattagtatctg	7	12	12	10	2	2	1	0	0	2	1	4	2	3	2	1	3	1	5	1	3	3	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:30666926C>T	ENST00000577809.1	-	3	302	c.253G>A	c.(253-255)Gaa>Aaa	p.E85K	C17orf75_ENST00000225805.4_Missense_Mutation_p.E85K|RP11-227G15.3_ENST00000581915.1_RNA	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	chromosome 17 open reading frame 75	85					spermatogenesis					ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			GGCTCCACTTCGGATGGTAGA	0.458													4	74					0	0	1	0	0	T	30666926	C	T	30666926	3	4	242	1	0	0	0	0	1	0	0	0	1890	893	31	1	969	1	C17orf75	17	30666926	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1462488	30666926	50528284	855	12469											
GAS2L2	246176	broad.mit.edu	37	chr17	34077124	34077124	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccaggttgcggaagtggcagGgctggcgcctggggggcgct	4	6	21	10	3	0	0	0	0	0	0	0	1	0	1	2	8	1	4	2	8	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:34077124G>T	ENST00000254466.6	-	2	626	c.599C>A	c.(598-600)cCc>cAc	p.P200H	GAS2L2_ENST00000587565.1_Splice_Site_p.P184_splice	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	200					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GAAGTGGCAGGGCTGGCGCCT	0.711													18	43					6.49762e-13	6.77958e-13	1	1	0	T	34077124	G	T	34077124	3	4	242	1	0	0	0	0	1	0	0	0	6287	1232	43	4	2063	4	GAS2L2	17	34077124	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	3410198	34077124	47118086	856	12470											
GGNBP2	79893	broad.mit.edu	37	chr17	34945826	34945826	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtagtggctggttgacaacGgctggagcaaattaaataaa	14	10	12	5	1	0	1	0	1	0	0	0	2	0	2	0	4	2	5	0	4	7	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:34945826G>A	ENST00000304718.4	+	14	2395	c.2079G>A	c.(2077-2079)acG>acA	p.T693T		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	693					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		GGTTGACAACGGCTGGAGCAA	0.383													32	74					0	0	1	0	0	A	34945826	G	A	34945826	2	1	242	1	0	0	0	0	0	0	0	1	6401	1103	39	1		1	GGNBP2	17	34945826	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	868702	34945826	46249384	857	12471											
SRCIN1	80725	broad.mit.edu	37	chr17	36734841	36734841	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcatcacgcttgcggtcggCgtccgccttctggagcccgc	3	8	14	16	6	2	0	1	0	1	0	4	1	3	1	3	4	2	2	3	4	0	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:36734841C>T	ENST00000264659.7	-	2	450	c.226G>A	c.(226-228)Gcc>Acc	p.A76T	SRCIN1_ENST00000578925.1_Missense_Mutation_p.A76T	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	83					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						TTGCGGTCGGCGTCCGCCTTC	0.677													12	18					0	0	1	0	0	T	36734841	C	T	36734841	3	4	242	1	0	0	0	0	1	0	0	0	15192	768	27	1	3397	1	SRCIN1	17	36734841	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1789015	36734841	44460369	858	12472											
PLXDC1	57125	broad.mit.edu	37	chr17	37234284	37234284	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctcatcctggaagtcctcGcacatcctgccctctgcctg	5	11	7	18	1	2	0	1	0	1	0	7	1	6	1	6	1	2	1	6	1	1	0	rs138219673		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:37234284G>A	ENST00000315392.4	-	11	1279	c.1068C>T	c.(1066-1068)tgC>tgT	p.C356C	PLXDC1_ENST00000539608.1_3'UTR|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000444911.2_Silent_p.C316C|CTD-2206N4.4_ENST00000583447.1_RNA	NM_020405.4	NP_065138.2	Q8IUK5	PXDC1_HUMAN	plexin domain containing 1	356					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						GGAAGTCCTCGCACATCCTGC	0.542													19	43					0	0	1	0	0	A	37234284	G	A	37234284	2	1	242	1	0	0	0	0	0	0	0	1	12165	1079	38	1		1	PLXDC1	17	37234284	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	499443	37234284	43960926	859	12473											
TCAP	8557	broad.mit.edu	37	chr17	37822127	37822127	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctaccagcgggtactgcCgctgcccatcttcacccctg	5	8	9	19	2	2	0	1	0	1	0	2	0	2	0	6	1	5	2	6	1	2	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:37822127C>T	ENST00000309889.2	+	2	1442	c.269C>T	c.(268-270)cCg>cTg	p.P90L	TCAP_ENST00000578283.1_Missense_Mutation_p.P66L			O15273	TELT_HUMAN	titin-cap	90			P -> L (in CMD1N).		adult heart development|cardiac muscle contraction|cardiac muscle fiber development|cardiac muscle tissue morphogenesis|detection of mechanical stimulus|muscle filament sliding|response to stress|sarcomere organization|skeletal muscle contraction|skeletal muscle myosin thick filament assembly|skeletal muscle thin filament assembly	cytosol|Z disc	structural constituent of muscle|titin binding|titin Z domain binding			kidney(1)|lung(1)	2	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CGGGTACTGCCGCTGCCCATC	0.672													7	23					0	0	1	0	0	T	37822127	C	T	37822127	3	4	242	1	0	0	0	0	1	0	0	0	15726	652	23	1	275	1	TCAP	17	37822127	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	587843	37822127	43373083	860	12474											
CASC3	22794	broad.mit.edu	37	chr17	38319961	38319961	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggtgggcagcatggtggccGgtctggtgagactgttaagc	6	10	18	7	1	1	1	0	1	1	1	1	2	1	1	1	6	2	3	1	6	1	1	rs139973585		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:38319961G>A	ENST00000264645.7	+	7	1239	c.1013G>A	c.(1012-1014)cGg>cAg	p.R338Q		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	338					mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						CATGGTGGCCGGTCTGGTGAG	0.552													13	267					0	0	1	0	0	A	38319961	G	A	38319961	3	1	242	1	0	0	0	0	1	0	0	0	2679	1116	39	1	1039	1	CASC3	17	38319961	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	497834	38319961	42875249	861	12475											
KRT33B	3884	broad.mit.edu	37	chr17	39521647	39521647	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtgcttagatgcccacctgCgtggcgaaccattgctccac	7	9	10	15	3	0	1	0	0	0	1	1	2	1	1	4	1	5	2	4	1	2	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:39521647C>T	ENST00000251646.3	-	4	796	c.747G>A	c.(745-747)acG>acA	p.T249T		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	249	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				TGCCCACCTGCGTGGCGAACC	0.627													17	57					0	0	1	0	0	T	39521647	C	T	39521647	2	4	242	1	0	0	0	0	0	0	0	1	8513	755	27	1		1	KRT33B	17	39521647	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1201686	39521647	41673563	862	12476											
FKBP10	60681	broad.mit.edu	37	chr17	39973358	39973358	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtgggtgtggggcgcctCatcactggcatggaccgagg	5	8	19	9	2	2	0	2	0	0	0	2	2	2	1	2	7	0	1	2	7	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:39973358C>A	ENST00000321562.4	+	2	398	c.294C>A	c.(292-294)ctC>ctA	p.L98L		NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	98	PPIase FKBP-type 1.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		TGGGGCGCCTCATCACTGGCA	0.627													4	90					0.014758	0.0149096	1	1	0	A	39973358	C	A	39973358	2	1	242	1	0	0	0	0	0	0	0	1	5935	813	29	4		4	FKBP10	17	39973358	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	451711	39973358	41221852	863	12477											
KLHL10	317719	broad.mit.edu	37	chr17	40004485	40004485	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaggaatatgcagctagaCgggacaacttcccaggatta	13	9	11	8	1	0	2	0	1	0	1	1	5	1	5	1	3	3	2	1	3	5	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:40004485C>T	ENST00000293303.4	+	5	1906	c.1753C>T	c.(1753-1755)Cgg>Tgg	p.R585W		NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	585						cytoplasm				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				TGCAGCTAGACGGGACAACTT	0.453													4	145					0	0	1	0	0	T	40004485	C	T	40004485	3	4	242	1	0	0	0	0	1	0	0	0	8409	527	19	1	1771	1	KLHL10	17	40004485	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	31127	40004485	41190725	864	12478											
ACLY	47	broad.mit.edu	37	chr17	40034431	40034431	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acaatgactccattggccacGagatcttcgtatacagacct	12	10	7	12	2	1	3	0	1	1	2	3	4	2	3	3	1	1	1	3	1	3	4	rs35022178	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:40034431G>A	ENST00000352035.2	-	22	2542	c.2412C>T	c.(2410-2412)ctC>ctT	p.L804L	ACLY_ENST00000590151.1_Silent_p.L804L|ACLY_ENST00000393896.2_Silent_p.L794L|ACLY_ENST00000537919.1_Silent_p.L533L|ACLY_ENST00000353196.1_Silent_p.L794L	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	804					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				CATTGGCCACGAGATCTTCGT	0.502													9	36					0	0	1	0	0	A	40034431	G	A	40034431	2	1	242	1	0	0	0	0	0	0	0	1	143	1045	37	1		1	ACLY	17	40034431	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	29946	40034431	41160779	865	12479											
KCNH4	23415	broad.mit.edu	37	chr17	40330128	40330128	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgggactcacattattggccTtcatgcctccctggccccgg	5	11	10	15	1	2	0	2	0	0	0	3	1	3	1	5	4	1	0	5	4	1	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:40330128T>C	ENST00000264661.3	-	4	907	c.575A>G	c.(574-576)aAg>aGg	p.K192R	KCNH4_ENST00000607371.1_Missense_Mutation_p.K192R	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	192					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		ATTATTGGCCTTCATGCCTCC	0.607													39	108					0	0	1	0	0	C	40330128	T	C	40330128	3	2	242	1	0	0	0	0	1	0	0	0	8078	1609	56	3	2530	3	KCNH4	17	40330128	Missense_Mutation	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	295697	40330128	40865082	866	12480											
GHDC	84514	broad.mit.edu	37	chr17	40342329	40342329	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacacatacttccggtgaatGggcagctgccaagtctagtg	10	9	11	11	1	1	1	0	1	1	0	2	1	2	1	2	2	3	2	2	2	4	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:40342329G>T	ENST00000414034.3	-	9	1535	c.1337C>A	c.(1336-1338)cCa>cAa	p.P446Q	GHDC_ENST00000428494.2_Intron|GHDC_ENST00000587427.1_Intron|GHDC_ENST00000301671.8_Intron|GHDC_ENST00000436923.2_Missense_Mutation_p.P446Q|GHDC_ENST00000593209.1_Intron	NM_001142623.1	NP_001136095.1	Q8N2G8	GHDC_HUMAN	GH3 domain containing	363						endoplasmic reticulum|nuclear envelope				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		TCCGGTGAATGGGCAGCTGCC	0.537													15	26					1.49906e-05	1.53742e-05	1	1	0	T	40342329	G	T	40342329	3	4	242	1	0	0	0	0	1	0	0	0	6411	1348	47	4	352	4	GHDC	17	40342329	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	12201	40342329	40852881	867	12481											
CNTNAP1	8506	broad.mit.edu	37	chr17	40849591	40849591	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagacaggagtcattgacccGgagatccagcgctacaacac	13	5	11	12	2	1	3	1	1	0	2	2	6	2	4	2	2	3	1	2	2	2	2	rs142952244	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:40849591G>A	ENST00000264638.4	+	22	3805	c.3588G>A	c.(3586-3588)ccG>ccA	p.P1196P	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	1196	Laminin G-like 4.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TCATTGACCCGGAGATCCAGC	0.577													28	74					0	0	1	0	0	A	40849591	G	A	40849591	2	1	242	1	0	0	0	0	0	0	0	1	3669	1103	39	1		1	CNTNAP1	17	40849591	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	507262	40849591	40345619	868	12482											
RAMP2	10266	broad.mit.edu	37	chr17	40914372	40914372	+	Frame_Shift_Del	DEL	G	G	-																															gtgtagcatctgtacctacaGgggggacggtgaagaactat																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:40914372delG	ENST00000587142.1	+	3	182	c.178delG	c.(178-180)ggfs	p.G61fs	RAMP2_ENST00000588576.1_Intron|RAMP2_ENST00000253796.5_Splice_Site|RAMP2_ENST00000589683.1_Splice_Site			O60895	RAMP2_HUMAN	receptor (G protein-coupled) activity modifying protein 2	56					intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	coated pit|integral to plasma membrane|lysosome	protein transporter activity			endometrium(2)|lung(1)|stomach(1)	4		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0741)	Pramlintide(DB01278)	TGTACCTACAGGGGGGACGGT	0.507													32	152	---	---	---	---						-	40914372	G	-	40914372	7	5	242	1	0	1	0	1	0	0	0	0	13074	1014	35	0	173	0	RAMP2	17	40914372	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	64781	40914372	40280838	869	12483											
HDAC5	10014	broad.mit.edu	37	chr17	42170121	42170121	+	Frame_Shift_Del	DEL	G	G	-																															tgtaggagggaggcgtcccaGgggggccgctctggggaggg																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:42170121delG	ENST00000225983.6	-	7	1021	c.698delC	c.(697-699)ctfs	p.P233fs	HDAC5_ENST00000393622.2_Frame_Shift_Del_p.P232fs|HDAC5_ENST00000336057.5_Frame_Shift_Del_p.P232fs|HDAC5_ENST00000586802.1_Frame_Shift_Del_p.P232fs			Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	232					B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		AGGCGTCCCAGGGGGGCCGCT	0.647													15	46	---	---	---	---						-	42170121	G	-	42170121	7	5	242	1	0	1	0	1	0	0	0	0	7051	1000	35	0	2757	0	HDAC5	17	42170121	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	1255749	42170121	39025089	870	12484											
ITGA2B	3674	broad.mit.edu	37	chr17	42457470	42457470	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagcccagcagcagcaccCgccggccctggcggggcttc	6	3	15	17	3	0	1	0	0	0	1	1	2	0	1	4	4	4	4	4	4	0	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:42457470C>T	ENST00000262407.5	-	17	1683	c.1652G>A	c.(1651-1653)cGg>cAg	p.R551Q	ITGA2B_ENST00000377068.3_3'UTR|ITGA2B_ENST00000353281.4_Missense_Mutation_p.R551Q	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	551					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	CAGCAGCACCCGCCGGCCCTG	0.672													21	38					0	0	1	0	0	T	42457470	C	T	42457470	3	4	242	1	0	0	0	0	1	0	0	0	7920	652	23	1	1523	1	ITGA2B	17	42457470	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	287349	42457470	38737740	871	12485											
CRHR1	1394	broad.mit.edu	37	chr17	43907568	43907568	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	accatgagccccgaggtccaCcagagcaacgtggtacgtcc	10	5	11	15	3	0	2	0	1	0	1	2	3	2	2	6	2	4	2	6	2	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:43907568C>T	ENST00000314537.5	+	6	768	c.543C>T	c.(541-543)caC>caT	p.H181H	CRHR1_ENST00000339069.5_Silent_p.H80H|CRHR1_ENST00000293493.7_Silent_p.H6H|CRHR1_ENST00000352855.5_Silent_p.H141H|CRHR1_ENST00000577353.1_Silent_p.H181H|CRHR1_ENST00000398285.3_Silent_p.H210H	NM_001145147.1|NM_001145148.1|NM_004382.4	NP_001138619.1|NP_001138620.1|NP_004373.2	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	210					female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		CCGAGGTCCACCAGAGCAACG	0.647													6	57					0	0	1	0	0	T	43907568	C	T	43907568	2	4	242	1	0	0	0	0	0	0	0	1	3894	506	18	2		2	CRHR1	17	43907568	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1450098	43907568	37287642	872	12486											
DLX4	0	broad.mit.edu	37	chr17	48051191	48051191	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgctccccacccctccccTccctctgggatctacccaag	5	8	5	23	0	2	0	0	0	2	0	5	1	5	1	9	1	2	1	9	1	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:48051191T>C	ENST00000240306.3	+	3	902	c.607T>C	c.(607-609)Tcc>Ccc	p.S203P	DLX4_ENST00000411890.2_Missense_Mutation_p.S131P	NM_138281.2	NP_612138.1	Q92988	DLX4_HUMAN	distal-less homeobox 4	203				S -> Y (in Ref. 1; AAC50942).	multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3)	10						ACCCCTCCCCTCCCTCTGGGA	0.592													4	105					0	0	1	0	0	C	48051191	T	C	48051191	3	2	242	1	0	0	0	0	1	0	0	0	4601	1551	54	3	684	3	DLX4	17	48051191	Missense_Mutation	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	4143623	48051191	33144019	873	12487											
CACNA1G	8913	broad.mit.edu	37	chr17	48668820	48668820	+	Frame_Shift_Del	DEL	G	G	-																															tgggagatcgtgggccagcaGgggggcggcctgtcggtgct																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:48668820delG	ENST00000352832.5	+	11	2850	c.2478delG	c.(2476-2478)cafs	p.Q826fs	CACNA1G_ENST00000507896.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000515765.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000515165.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000507609.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000514717.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000442258.2_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000510115.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000503485.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000513689.2_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000505165.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000512389.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000514181.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000429973.2_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000510366.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000514079.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000358244.5_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000513964.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000507510.2_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000359106.5_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000502264.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000360761.4_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000515411.1_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000416767.4_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000354983.4_Frame_Shift_Del_p.Q826fs|CACNA1G_ENST00000507336.1_Frame_Shift_Del_p.Q826fs	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	826					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TGGGCCAGCAGGGGGGCGGCC	0.682													6	9	---	---	---	---						-	48668820	G	-	48668820	7	5	242	1	0	1	0	1	0	0	0	0	2562	991	35	0	2520	0	CACNA1G	17	48668820	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	617629	48668820	32526390	874	12488											
TMEM100	55273	broad.mit.edu	37	chr17	53798255	53798255	+	Frame_Shift_Del	DEL	G	G	-																															atgaagacaaccacagcaaaGgggatgatgcagcggtagca																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:53798255delG	ENST00000575734.1	-	4	985	c.177delC	c.(175-177)ccfs	p.P59fs	TMEM100_ENST00000424486.2_Frame_Shift_Del_p.P59fs	NM_001099640.1	NP_001093110.1	Q9NV29	TM100_HUMAN	transmembrane protein 100	59						integral to membrane				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	11						CCACAGCAAAGGGGATGATGC	0.537													32	117	---	---	---	---						-	53798255	G	-	53798255	7	5	242	1	0	1	0	1	0	0	0	0	16075	987	35	0	231	0	TMEM100	17	53798255	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	5129435	53798255	27396955	875	12489											
ANKFN1	162282	broad.mit.edu	37	chr17	54526456	54526456	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagactggaaagactatgaCgacagagagcccagacacaa	18	4	10	9	1	0	5	0	1	0	4	0	8	0	6	1	1	1	0	1	1	4	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:54526456C>T	ENST00000566473.2	+	10	1125	c.1125C>T	c.(1123-1125)gaC>gaT	p.D375D	ANKFN1_ENST00000318698.2_Silent_p.D375D			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	375										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						AAGACTATGACGACAGAGAGC	0.483													16	52					0	0	1	0	0	T	54526456	C	T	54526456	2	4	242	1	0	0	0	0	0	0	0	1	621	535	19	1		1	ANKFN1	17	54526456	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	728201	54526456	26668754	876	12490											
AKAP1	8165	broad.mit.edu	37	chr17	55193500	55193500	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctgtgccgcccctggtgcGgacggggcctggtggcgagc	3	7	18	13	4	1	0	0	0	1	0	1	2	1	1	4	6	3	0	4	6	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:55193500G>A	ENST00000337714.3	+	7	2543	c.2310G>A	c.(2308-2310)gcG>gcA	p.A770A	AKAP1_ENST00000572557.1_Silent_p.A770A|AKAP1_ENST00000571629.1_Silent_p.A770A|AKAP1_ENST00000539273.1_Silent_p.A770A	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	770	Tudor.				blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					CCCCTGGTGCGGACGGGGCCT	0.632													21	26					0	0	1	0	0	A	55193500	G	A	55193500	2	1	242	1	0	0	0	0	0	0	0	1	442	1103	39	1		1	AKAP1	17	55193500	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	667044	55193500	26001710	877	12491											
BZRAP1	9256	broad.mit.edu	37	chr17	56385933	56385933	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctccttggctctgcccgtcGcactgcggcctctccgctct	1	11	10	19	4	3	0	0	0	3	0	6	0	4	0	4	2	2	4	4	2	0	1	rs143530655		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:56385933G>A	ENST00000355701.3	-	22	5570	c.4700C>T	c.(4699-4701)gCg>gTg	p.A1567V	BZRAP1_ENST00000343736.4_Missense_Mutation_p.A1567V|BZRAP1_ENST00000268893.6_Missense_Mutation_p.A1507V	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1567						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCTGCCCGTCGCACTGCGGCC	0.711													36	49					0	0	1	0	0	A	56385933	G	A	56385933	3	1	242	1	0	0	0	0	1	0	0	0	1580	1087	38	1	913	1	BZRAP1	17	56385933	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1192433	56385933	24809277	878	12492											
BZRAP1	9256	broad.mit.edu	37	chr17	56386548	56386548	+	Frame_Shift_Del	DEL	G	G	-																															agcccagccccagcaatgcaGgttcaggcgggccagggtct																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:56386548delG	ENST00000355701.3	-	22	4955	c.4085delC	c.(4084-4086)ctfs	p.P1362fs	BZRAP1_ENST00000268893.6_Frame_Shift_Del_p.P1302fs|BZRAP1_ENST00000343736.4_Frame_Shift_Del_p.P1362fs	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1362						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CAGCAATGCAGGTTCAGGCGG	0.627													32	70	---	---	---	---						-	56386548	G	-	56386548	7	5	242	1	0	1	0	1	0	0	0	0	1580	1000	35	0	1528	0	BZRAP1	17	56386548	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	615	56386548	24808662	879	12493											
RNF43	54894	broad.mit.edu	37	chr17	56435161	56435161	+	Frame_Shift_Del	DEL	C	C	-																															caggggtgggctcggagggaCccccccgccttttcctctgt																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:56435161delC	ENST00000584437.1	-	8	3931	c.1976delG	c.(1975-1977)gtfs	p.G659fs	RNF43_ENST00000577716.1_Frame_Shift_Del_p.G659fs|RNF43_ENST00000500597.2_Frame_Shift_Del_p.G618fs|RNF43_ENST00000583753.1_Frame_Shift_Del_p.G618fs|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Frame_Shift_Del_p.G532fs|RNF43_ENST00000407977.2_Frame_Shift_Del_p.G659fs|RNF43_ENST00000577625.1_Frame_Shift_Del_p.G532fs			Q68DV7	RNF43_HUMAN	ring finger protein 43	659	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	p.G659fs*41(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTCGGAGGGACCCCCCCGCCT	0.602													65	105	---	---	---	---						-	56435161	C	-	56435161	7	5	242	1	0	1	0	1	0	0	0	0	13547	507	18	0	383	0	RNF43	17	56435161	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	48613	56435161	24760049	880	12494											
MTMR4	9110	broad.mit.edu	37	chr17	56572381	56572381	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctgaagctcacgcacctgtCgacgtagctgctccacctct	7	10	8	16	3	3	1	1	1	2	0	5	2	4	1	3	0	3	5	3	0	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:56572381C>T	ENST00000323456.5	-	16	3246	c.3122G>A	c.(3121-3123)cGa>cAa	p.R1041Q	MTMR4_ENST00000579925.1_Missense_Mutation_p.R984Q	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	1041						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACGCACCTGTCGACGTAGCTG	0.527													19	36					0	0	1	0	0	T	56572381	C	T	56572381	3	4	242	1	0	0	0	0	1	0	0	0	9994	884	31	1	481	1	MTMR4	17	56572381	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	137220	56572381	24622829	881	12495											
GDPD1	284161	broad.mit.edu	37	chr17	57335125	57335125	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgtaggtttcagagttggTgaagcggtataatcgagaac	12	10	13	6	3	1	3	1	1	0	2	2	4	1	3	0	3	2	4	0	3	5	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:57335125T>C	ENST00000284116.4	+	6	637	c.500T>C	c.(499-501)gTg>gCg	p.V167A	GDPD1_ENST00000581140.1_Missense_Mutation_p.V167A|GDPD1_ENST00000581276.1_Missense_Mutation_p.V167A	NM_182569.3	NP_872375.2	Q8N9F7	GDPD1_HUMAN	glycerophosphodiester phosphodiesterase domain containing 1	167	GDPD.				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					TCAGAGTTGGTGAAGCGGTAT	0.333													11	52					0	0	1	0	0	C	57335125	T	C	57335125	3	2	242	1	0	0	0	0	1	0	0	0	6365	1696	59	3	522	3	GDPD1	17	57335125	Missense_Mutation	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	762744	57335125	23860085	882	12496											
MRC2	9902	broad.mit.edu	37	chr17	60754670	60754670	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggcgctggccactggcagCgccatggggctgtgggaggt	4	7	20	10	2	0	0	0	0	0	0	0	1	0	1	2	7	1	3	2	7	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:60754670C>T	ENST00000303375.5	+	12	2277	c.1875C>T	c.(1873-1875)agC>agT	p.S625S		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	625	C-type lectin 3.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CCACTGGCAGCGCCATGGGGC	0.667													4	14					0	0	1	0	0	T	60754670	C	T	60754670	2	4	242	1	0	0	0	0	0	0	0	1	9807	767	27	1		1	MRC2	17	60754670	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	3419545	60754670	20440540	883	12497											
TANC2	26115	broad.mit.edu	37	chr17	61492927	61492927	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgcccagcgctaccagtaCgccctgaagaagttccctag	9	7	10	15	2	0	2	0	1	0	1	1	2	1	2	4	0	4	4	4	0	5	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:61492927C>T	ENST00000424789.2	+	23	3811	c.3807C>T	c.(3805-3807)taC>taT	p.Y1269Y	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Silent_p.Y1279Y	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1269							binding	p.Y1279*(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						GCTACCAGTACGCCCTGAAGA	0.512													11	32					0	0	1	0	0	T	61492927	C	T	61492927	2	4	242	1	0	0	0	0	0	0	0	1	15602	547	19	1		1	TANC2	17	61492927	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	738257	61492927	19702283	884	12498											
ACE	1636	broad.mit.edu	37	chr17	61557710	61557710	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccccaggcttcacagacaCgggggcctactggcgctcct	6	6	12	17	2	1	1	1	0	0	1	2	1	2	1	4	4	1	2	4	4	1	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:61557710C>T	ENST00000290866.4	+	5	692	c.668C>T	c.(667-669)aCg>aTg	p.T223M	ACE_ENST00000538928.1_Missense_Mutation_p.T223M|ACE_ENST00000584529.1_3'UTR|ACE_ENST00000428043.1_Missense_Mutation_p.T223M	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	223	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	TTCACAGACACGGGGGCCTAC	0.612													19	44					0	0	1	0	0	T	61557710	C	T	61557710	3	4	242	1	0	0	0	0	1	0	0	0	136	536	19	1	686	1	ACE	17	61557710	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	64783	61557710	19637500	885	12499											
KCNH6	81033	broad.mit.edu	37	chr17	61613357	61613357	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcagcagcctcaccagcGtgggcttcggcaatgtctcg	6	9	11	15	3	3	0	2	0	1	0	5	0	3	0	3	2	3	3	3	2	1	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:61613357G>A	ENST00000583023.1	+	6	1440	c.1429G>A	c.(1429-1431)Gtg>Atg	p.V477M	KCNH6_ENST00000581784.1_Missense_Mutation_p.V424M|KCNH6_ENST00000456941.2_Missense_Mutation_p.V424M|KCNH6_ENST00000580652.1_Missense_Mutation_p.V477M|KCNH6_ENST00000314672.5_Missense_Mutation_p.V477M	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	477					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	CCTCACCAGCGTGGGCTTCGG	0.602													23	50					0	0	1	0	0	A	61613357	G	A	61613357	3	1	242	1	0	0	0	0	1	0	0	0	8080	1145	40	1	1451	1	KCNH6	17	61613357	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	55647	61613357	19581853	886	12500											
SMARCD2	6603	broad.mit.edu	37	chr17	61911540	61911540	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctaacctggcggaagtaaCggttgcagttgatgtactcc	9	10	13	9	2	0	1	0	1	0	0	1	2	1	2	2	4	4	6	2	4	4	5	rs147427461	by1000genomes	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:61911540C>T	ENST00000448276.2	-	8	1335	c.1070G>A	c.(1069-1071)cGt>cAt	p.R357H	SMARCD2_ENST00000225742.9_Missense_Mutation_p.R282H|SMARCD2_ENST00000323347.10_Missense_Mutation_p.R309H	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2	357	SWIB.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						GCGGAAGTAACGGTTGCAGTT	0.602											OREG0024642	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	13					0	0	1	0	0	T	61911540	C	T	61911540	3	4	242	1	0	0	0	0	1	0	0	0	14832	536	19	1	549	1	SMARCD2	17	61911540	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	298183	61911540	19283670	887	12501											
PITPNC1	26207	broad.mit.edu	37	chr17	65688788	65688788	+	Frame_Shift_Del	DEL	C	C	-																															gcaatttctatctccagcatCcccctgctgccttcttccgt																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:65688788delC	ENST00000335257.6	+	9	1130	c.783delC	c.(781-783)atfs	p.I261fs	PITPNC1_ENST00000299954.9_3'UTR|PITPNC1_ENST00000581322.1_Frame_Shift_Del_p.I261fs|PITPNC1_ENST00000580974.1_3'UTR			Q9UKF7	PITC1_HUMAN	phosphatidylinositol transfer protein, cytoplasmic 1	261					signal transduction	cytoplasm	lipid binding|phosphatidylinositol transporter activity|protein binding			breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			TCTCCAGCATCCCCCTGCTGC	0.532													49	136	---	---	---	---						-	65688788	C	-	65688788	7	5	242	1	0	1	0	1	0	0	0	0	11997	845	30	0	940	0	PITPNC1	17	65688788	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	3777248	65688788	15506422	888	12502											
KCNJ2	3759	broad.mit.edu	37	chr17	68171232	68171232	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgtctcttcagaagaagacGgtatgaagttggccaccatg	11	10	11	9	2	2	4	1	1	1	3	4	4	2	4	2	2	0	2	2	2	4	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:68171232G>A	ENST00000243457.3	+	2	435	c.52G>A	c.(52-54)Ggt>Agt	p.G18S	KCNJ2_ENST00000535240.1_Missense_Mutation_p.G18S	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	18					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					AGAAGAAGACGGTATGAAGTT	0.522													19	51					0	0	1	0	0	A	68171232	G	A	68171232	3	1	242	1	0	0	0	0	1	0	0	0	8095	1116	39	1	54	1	KCNJ2	17	68171232	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	2482444	68171232	13023978	889	12503											
DNAI2	64446	broad.mit.edu	37	chr17	72277951	72277951	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctctgccccccagcagccGgcaccatggagattgtgtac	7	7	10	17	1	1	1	0	0	1	1	1	2	1	1	6	2	4	3	6	2	1	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:72277951G>A	ENST00000579490.1	+	1	301	c.166G>A	c.(166-168)Ggc>Agc	p.G56S	DNAI2_ENST00000311014.6_5'UTR|DNAI2_ENST00000307504.5_5'UTR|DNAI2_ENST00000582036.1_5'UTR|DNAI2_ENST00000446837.2_5'UTR			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	0					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CCCAGCAGCCGGCACCATGGA	0.612									Kartagener syndrome				4	89					0	0	1	0	0	A	72277951	G	A	72277951	3	1	242	1	0	0	0	0	1	0	0	0	4637	1131	39	1		1	DNAI2	17	72277951	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	4106719	72277951	8917259	890	12504											
NAT9	26151	broad.mit.edu	37	chr17	72767902	72767903	+	Frame_Shift_Del	DEL	TT	TT	-																															ccatctctgtaaggcttctcTtccacgtggctggtctgctc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:72767902_72767903delTT	ENST00000357814.3	-	7	657_658	c.584_585delAA	c.(583-585)gfs	p.E196fs	NAT9_ENST00000580632.1_Frame_Shift_Del_p.E196fs|NAT9_ENST00000582870.1_Frame_Shift_Del_p.E200fs|NAT9_ENST00000582524.1_3'UTR|NAT9_ENST00000578822.1_Frame_Shift_Del_p.E201fs|NAT9_ENST00000581136.1_Frame_Shift_Del_p.E191fs|NAT9_ENST00000583757.1_3'UTR|NAT9_ENST00000580301.1_Frame_Shift_Del_p.E195fs	NM_015654.3	NP_056469.2	Q9BTE0	NAT9_HUMAN	N-acetyltransferase 9 (GCN5-related, putative)	196						protein complex	N-acetyltransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)	8						AAGGCTTCTCTTCCACGTGGCT	0.574													19	36	---	---	---	---						-	72767903	TT	-	72767902	7	5	242	1	0	1	0	1	0	0	0	0	10230	1606	56	0	42	0	NAT9	17	72767902	Frame_Shift_Del	DEL	TT	TCGA-KK-A59V-01A-11D-A29Q-08	489951	72767902	8427308	891	12505											
KIAA0195	9772	broad.mit.edu	37	chr17	73482398	73482398	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggggctggtgaatgcctcGgccttgttcctgttactgct	3	14	14	10	1	0	1	0	1	0	0	2	1	1	1	3	4	3	4	3	4	2	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:73482398G>A	ENST00000314256.7	+	5	694	c.300G>A	c.(298-300)tcG>tcA	p.S100S	KIAA0195_ENST00000375248.5_Silent_p.S110S|KIAA0195_ENST00000579208.1_Intron	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	100					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGAATGCCTCGGCCTTGTTCC	0.657													39	152					0	0	1	0	0	A	73482398	G	A	73482398	2	1	242	1	0	0	0	0	0	0	0	1	8202	1103	39	1		1	KIAA0195	17	73482398	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	714496	73482398	7712812	892	12506											
CASKIN2	57513	broad.mit.edu	37	chr17	73498257	73498257	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctcggggcggggggccagcGggcttcgggcgctgtttgat	2	9	20	10	5	1	1	0	1	1	0	3	1	1	1	1	7	1	3	1	7	0	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:73498257G>A	ENST00000321617.3	-	18	3484	c.2898C>T	c.(2896-2898)ccC>ccT	p.P966P	CASKIN2_ENST00000433559.2_Silent_p.P884P	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	966	Pro-rich.					cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGGGGCCAGCGGGCTTCGGGC	0.672													21	38					0	0	1	0	0	A	73498257	G	A	73498257	2	1	242	1	0	0	0	0	0	0	0	1	2685	1103	39	1		1	CASKIN2	17	73498257	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	15859	73498257	7696953	893	12507											
ITGB4	3691	broad.mit.edu	37	chr17	73750675	73750675	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagcacctggtgaatggccGgatggactttgccttcccgg	7	9	14	11	2	0	2	0	1	0	1	1	4	1	4	4	5	2	1	4	5	1	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:73750675G>A	ENST00000200181.3	+	34	4524	c.4337G>A	c.(4336-4338)cGg>cAg	p.R1446Q	ITGB4_ENST00000579662.1_Missense_Mutation_p.R1376Q|ITGB4_ENST00000450894.3_Missense_Mutation_p.R1376Q|ITGB4_ENST00000449880.2_Missense_Mutation_p.R1376Q|ITGB4_ENST00000339591.3_Missense_Mutation_p.R1376Q|GALK1_ENST00000225614.2_Intron	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1446					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GTGAATGGCCGGATGGACTTT	0.677													4	86					0	0	1	0	0	A	73750675	G	A	73750675	3	1	242	1	0	0	0	0	1	0	0	0	7941	1116	39	1	4467	1	ITGB4	17	73750675	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	252418	73750675	7444535	894	12508											
GALK1	2584	broad.mit.edu	37	chr17	73759207	73759207	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctgctgacacacctgggCgcgggcagctattgtgcccg	5	7	15	14	3	0	1	0	1	0	0	0	1	0	1	3	3	3	3	3	3	1	2	rs139858654	by1000genomes	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:73759207C>T	ENST00000588479.1	-	4	1073	c.499G>A	c.(499-501)Gcc>Acc	p.A167T	GALK1_ENST00000437911.1_Missense_Mutation_p.A197T|GALK1_ENST00000225614.2_Missense_Mutation_p.A167T			P51570	GALK1_HUMAN	galactokinase 1	167					galactose catabolic process	cytosol	ATP binding|galactokinase activity|galactose binding			endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	5	all_cancers(13;1.5e-07)		all cancers(21;1.03e-06)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CACACCTGGGCGCGGGCAGCT	0.612													26	75					0	0	1	0	0	T	73759207	C	T	73759207	3	4	242	1	0	0	0	0	1	0	0	0	6243	768	27	1	699	1	GALK1	17	73759207	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	8532	73759207	7436003	895	12509											
EVPL	2125	broad.mit.edu	37	chr17	74003402	74003402	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctcttcactgatcatccCggagaggagggcctgctgga	8	8	13	12	1	3	2	2	1	1	1	4	5	4	4	2	4	2	2	2	4	0	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:74003402C>T	ENST00000301607.3	-	22	6137	c.5884G>A	c.(5884-5886)Ggg>Agg	p.G1962R	EVPL_ENST00000586740.1_Missense_Mutation_p.G1984R	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1962	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CTGATCATCCCGGAGAGGAGG	0.627													7	84					0	0	1	0	0	T	74003402	C	T	74003402	3	4	242	1	0	0	0	0	1	0	0	0	5320	652	23	1	221	1	EVPL	17	74003402	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	244195	74003402	7191808	896	12510											
USP36	57602	broad.mit.edu	37	chr17	76831511	76831511	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctcccacctcagagacagtCgctccgtggggaaaagcact	10	6	11	14	2	1	1	1	0	0	1	4	3	3	2	3	2	1	3	3	2	2	0	rs148226667		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:76831511C>T	ENST00000312010.6	-	4	650	c.326G>A	c.(325-327)cGa>cAa	p.R109Q	USP36_ENST00000589424.1_Missense_Mutation_p.R109Q|USP36_ENST00000590546.2_Missense_Mutation_p.R109Q|USP36_ENST00000542802.2_Missense_Mutation_p.R109Q	NM_025090.3	NP_079366.3	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	109					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			CAGAGACAGTCGCTCCGTGGG	0.582													9	30					0	0	1	0	0	T	76831511	C	T	76831511	3	4	242	1	0	0	0	0	1	0	0	0	17127	884	31	1	3113	1	USP36	17	76831511	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	2828109	76831511	4363699	897	12511											
CBX4	8535	broad.mit.edu	37	chr17	77808481	77808483	+	In_Frame_Del	DEL	CTT	CTT	-																															ctcttgggcggcgcctccacCttcttctcctctgcgcccgc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:77808481_77808483delCTT	ENST00000269397.4	-	5	1135_1137	c.958_960delAAG	c.(958-960)del	p.K320del		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	320	Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GCGCCTCCACCTTCTTCTCCTCT	0.69											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	57	---	---	---	---						-	77808483	CTT	-	77808481	7	5	242	1	0	1	0	1	0	0	0	0	2738	680	24	0	726	0	CBX4	17	77808481	In_Frame_Del	DEL	CTT	TCGA-KK-A59V-01A-11D-A29Q-08	976970	77808481	3386729	898	12512											
RNF213	57674	broad.mit.edu	37	chr17	78319445	78319445	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taaattccttagcgacctgcGgcgtggtggtaccaatgctg	8	11	12	10	3	0	0	0	0	0	0	1	1	1	0	3	3	4	2	3	3	5	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:78319445G>A	ENST00000582970.1	+	29	7453	c.7310G>A	c.(7309-7311)cGg>cAg	p.R2437Q	RNF213_ENST00000336301.6_Missense_Mutation_p.R510Q|RNF213_ENST00000508628.2_Missense_Mutation_p.R2486Q	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGCGACCTGCGGCGTGGTGGT	0.522													6	118					0	0	1	0	0	A	78319445	G	A	78319445	3	1	242	1	0	0	0	0	1	0	0	0	13529	1116	39	1	7739	1	RNF213	17	78319445	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	510964	78319445	2875765	899	12513											
RPTOR	57521	broad.mit.edu	37	chr17	78831654	78831654	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagctcggcccgagagctgcGgccacttctcgttttcatct	5	11	11	14	4	3	1	1	0	2	1	5	3	3	1	2	2	3	3	2	2	0	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:78831654G>A	ENST00000306801.3	+	13	1825	c.1463G>A	c.(1462-1464)cGg>cAg	p.R488Q	RPTOR_ENST00000544334.2_Missense_Mutation_p.R488Q|RPTOR_ENST00000537330.1_Missense_Mutation_p.R303Q|RPTOR_ENST00000575542.1_3'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	488					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CGAGAGCTGCGGCCACTTCTC	0.652													8	53					0	0	1	0	0	A	78831654	G	A	78831654	3	1	242	1	0	0	0	0	1	0	0	0	13717	1116	39	1	1513	1	RPTOR	17	78831654	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	512209	78831654	2363556	900	12514											
ASPSCR1	79058	broad.mit.edu	37	chr17	79954527	79954527	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccccctttgttcctttctcGggtgggggacagagactggg	4	11	15	11	1	1	1	0	0	1	1	3	3	2	2	3	4	0	1	3	4	0	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:79954527G>A	ENST00000306729.7	+	7	835	c.738G>A	c.(736-738)tcG>tcA	p.S246S	ASPSCR1_ENST00000580534.1_Silent_p.S169S|ASPSCR1_ENST00000306739.4_Silent_p.S246S	NM_001251888.1	NP_001238817.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	246							protein binding		ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			TTCCTTTCTCGGGTGGGGGAC	0.662			T	TFE3	alveolar soft part sarcoma								16	40					0	0	1	0	0	A	79954527	G	A	79954527	2	1	242	1	0	0	0	0	0	0	0	1	1058	1103	39	1		1	ASPSCR1	17	79954527	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1122873	79954527	1240683	901	12515											
CD7	924	broad.mit.edu	37	chr17	80274164	80274164	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagggcagaggctgctggCgggtcagggagggcagaggc	7	3	24	7	1	1	2	1	0	0	2	1	4	1	4	0	8	1	4	0	8	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:80274164C>T	ENST00000584284.1	-	3	600	c.519G>A	c.(517-519)ccG>ccA	p.P173P	CD7_ENST00000583376.1_Silent_p.P73P|CD7_ENST00000312648.3_Silent_p.P173P|CD7_ENST00000578509.1_Silent_p.P73P			P09564	CD7_HUMAN	CD7 molecule	173	4 X 9 AA tandem repeats, potential spacer function.				immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|membrane fraction|plasma membrane	receptor activity			endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667)			AGGCTGCTGGCGGGTCAGGGA	0.716													3	9					0	0	1	0	0	T	80274164	C	T	80274164	2	4	242	1	0	0	0	0	0	0	0	1	3054	755	27	1		1	CD7	17	80274164	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	319637	80274164	921046	902	12516											
SECTM1	6398	broad.mit.edu	37	chr17	80285100	80285101	+	Frame_Shift_Ins	INS	-	-	G																															aacgtggccagggaatgccaINSgggggcaggtctgcatggct																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr17:80285100_80285101insG	ENST00000269389.3	-	2	366_367	c.16_17insC	c.(16-18)ggcfs	p.G6fs	SECTM1_ENST00000580437.1_Frame_Shift_Ins_p.G6fs	NM_003004.2	NP_002995.1	Q8WVN6	SCTM1_HUMAN	secreted and transmembrane 1	6					immune response|mesoderm development|positive regulation of I-kappaB kinase/NF-kappaB cascade	extracellular space|Golgi apparatus|integral to membrane|plasma membrane	cytokine activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(1)	4	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			AGGGAATGCCAGGGGGCAGGTC	0.624													7	14	---	---	---	---						G	80285101	-	G	80285100	7	5	242	1	0	1	1	0	0	0	0	0	14062	188	7	0	745	0	SECTM1	17	80285100	Frame_Shift_Ins	INS	-	TCGA-KK-A59V-01A-11D-A29Q-08	10936	80285100	910110	903	12517											
NDC80	10403	broad.mit.edu	37	chr18	2573008	2573008	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagcgcagttcagtttccagCggtggtgctggccgcctctc	5	10	13	13	3	2	0	1	0	1	0	4	0	3	0	3	3	3	4	3	3	1	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:2573008C>T	ENST00000261597.4	+	2	206	c.24C>T	c.(22-24)agC>agT	p.S8S		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	8	Interaction with the N-terminus of CDCA1.|Nuclear localization.				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex	protein binding			NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						CAGTTTCCAGCGGTGGTGCTG	0.428													4	48					0	0	1	0	0	T	2573008	C	T	2573008	2	4	242	1	0	0	0	0	0	0	0	1	10289	767	27	1		1	NDC80	18	2573008	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08		2573008	75504240	904	12518											
EMILIN2	84034	broad.mit.edu	37	chr18	2891121	2891121	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagaggagctcatggagggCatggacagaaagctggctga	13	5	17	6	0	1	3	1	1	0	2	1	7	1	6	0	5	2	4	0	5	1	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:2891121C>T	ENST00000254528.3	+	4	1155	c.996C>T	c.(994-996)ggC>ggT	p.G332G		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	332					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		TCATGGAGGGCATGGACAGAA	0.547													28	103					0	0	1	0	0	T	2891121	C	T	2891121	2	4	242	1	0	0	0	0	0	0	0	1	5122	697	25	2		2	EMILIN2	18	2891121	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	318113	2891121	75186127	905	12519											
MYOM1	8736	broad.mit.edu	37	chr18	3215169	3215169	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgcgcacgtccttgttgCggtagctgagatcatagtgc	6	12	13	10	3	1	1	1	1	0	1	2	2	2	1	1	1	5	5	1	1	2	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:3215169C>T	ENST00000400569.3	-	2	386	c.53G>A	c.(52-54)cGc>cAc	p.R18H	RP13-270P17.2_ENST00000580139.1_RNA|MYOM1_ENST00000261606.7_Missense_Mutation_p.R18H|MYOM1_ENST00000356443.4_Missense_Mutation_p.R18H			P52179	MYOM1_HUMAN	myomesin 1	18						striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GTCCTTGTTGCGGTAGCTGAG	0.577													3	27					0	0	1	0	0	T	3215169	C	T	3215169	3	4	242	1	0	0	0	0	1	0	0	0	10139	768	27	1	5152	1	MYOM1	18	3215169	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	324048	3215169	74862079	906	12520											
DLGAP1	9229	broad.mit.edu	37	chr18	3879897	3879897	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggtcgctgaaggggcccaCgcactcagcctggaaggagt	8	5	16	12	3	1	1	1	1	0	0	2	3	1	3	2	5	1	2	2	5	2	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:3879897C>T	ENST00000315677.3	-	4	767	c.172G>A	c.(172-174)Gtg>Atg	p.V58M	DLGAP1_ENST00000581527.1_Missense_Mutation_p.V58M|DLGAP1_ENST00000515196.2_Missense_Mutation_p.V58M|DLGAP1_ENST00000584874.1_Missense_Mutation_p.V58M|DLGAP1-AS3_ENST00000577649.1_RNA	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	58					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		p.V58M(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				AAGGGGCCCACGCACTCAGCC	0.672													7	152					0	0	1	0	0	T	3879897	C	T	3879897	3	4	242	1	0	0	0	0	1	0	0	0	4587	536	19	1	2856	1	DLGAP1	18	3879897	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	664728	3879897	74197351	907	12521											
ROCK1	6093	broad.mit.edu	37	chr18	18546946	18546946	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtagaatccgagaggtccAaaagtttagcacgcaattgc	13	10	10	8	2	0	2	0	0	0	2	2	3	2	2	2	1	2	4	2	1	6	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:18546946A>G	ENST00000399799.1	-	27	4224	c.3284T>C	c.(3283-3285)tTg>tCg	p.L1095S		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	1095					actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					CGAGAGGTCCAAAAGTTTAGC	0.398													9	109					0	0	1	0	0	G	18546946	A	G	18546946	3	3	242	1	0	0	0	0	1	0	0	0	13569	131	5	3	808	3	ROCK1	18	18546946	Missense_Mutation	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	14667049	18546946	59530302	908	12522											
DSC2	1824	broad.mit.edu	37	chr18	28654830	28654830	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgggctgttatcattcacGtcttgaagtataatgcccag	11	13	9	8	1	3	1	2	1	1	0	3	1	3	1	1	1	1	3	1	1	5	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:28654830G>A	ENST00000280904.6	-	12	2150	c.1707C>T	c.(1705-1707)gaC>gaT	p.D569D	DSC2_ENST00000251081.6_Silent_p.D569D	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	569	Cadherin 4.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TATCATTCACGTCTTGAAGTA	0.398													15	27					0	0	1	0	0	A	28654830	G	A	28654830	2	1	242	1	0	0	0	0	0	0	0	1	4792	1136	40	1		1	DSC2	18	28654830	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	10107884	28654830	49422418	909	12523											
SYT4	6860	broad.mit.edu	37	chr18	40850401	40850401	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accagttccttctgctgctgCacccaagactaactgcccga	9	9	7	16	1	1	1	0	0	1	1	2	2	2	1	4	0	5	4	4	0	2	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:40850401C>T	ENST00000255224.3	-	4	1551	c.1183G>A	c.(1183-1185)Gca>Aca	p.A395T	SYT4_ENST00000586678.1_5'UTR|SYT4_ENST00000590752.1_Missense_Mutation_p.A377T	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	395						cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						TCTGCTGCTGCACCCAAGACT	0.483													12	220					0	0	1	0	0	T	40850401	C	T	40850401	3	4	242	1	0	0	0	0	1	0	0	0	15533	710	25	2	98	2	SYT4	18	40850401	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	12195571	40850401	37226847	910	12524											
SETBP1	26040	broad.mit.edu	37	chr18	42281464	42281464	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaaggggatcccggtgggCggagagcgcatggagccaga	9	3	21	8	3	0	2	0	0	0	2	1	6	1	5	2	7	2	1	2	7	1	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:42281464C>T	ENST00000282030.5	+	2	449	c.153C>T	c.(151-153)ggC>ggT	p.G51G	SETBP1_ENST00000426838.4_Silent_p.G51G	NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	51						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TCCCGGTGGGCGGAGAGCGCA	0.622									Schinzel-Giedion syndrome				6	50					0	0	1	0	0	T	42281464	C	T	42281464	2	4	242	1	0	0	0	0	0	0	0	1	14183	755	27	1		1	SETBP1	18	42281464	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1431063	42281464	35795784	911	12525											
TCEB3CL	728929	broad.mit.edu	37	chr18	44549167	44549167	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcggcattgtctttctctgTgcggtacggctgatcgggcg	3	13	15	10	5	2	1	0	1	2	0	4	1	2	1	0	4	3	3	0	4	1	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:44549167T>G	ENST00000451265.1	-	1	1367	c.1132A>C	c.(1132-1134)Aca>Cca	p.T378P	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	NM_001100817.1	NP_001094287.1			transcription elongation factor B polypeptide 3C-like											central_nervous_system(1)|lung(1)|prostate(1)	3						TCTTTCTCTGTGCGGTACGGC	0.572													28	339					0	0	1	0	0	G	44549167	T	G	44549167	3	3	242	1	0	0	0	0	1	0	0	0	15744	1696	59	5	2155	5	TCEB3CL	18	44549167	Missense_Mutation	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	2267703	44549167	33528081	912	12526											
LIPG	9388	broad.mit.edu	37	chr18	47113130	47113130	+	Frame_Shift_Del	DEL	C	C	-																															tcctagactgacattttgtaCagaagaccctgagaacacca																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:47113130delC	ENST00000261292.4	+	9	1669	c.1391delC	c.(1390-1392)aafs	p.T464fs	LIPG_ENST00000427224.2_Frame_Shift_Del_p.T390fs	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	464	PLAT.				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						ACATTTTGTACAGAAGACCCT	0.507													21	41	---	---	---	---						-	47113130	C	-	47113130	7	5	242	1	0	1	0	1	0	0	0	0	8864	478	17	0	1425	0	LIPG	18	47113130	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	2563963	47113130	30964118	913	12527											
LMAN1	3998	broad.mit.edu	37	chr18	57013285	57013285	+	Splice_Site	DEL	T	T	-																															tttctttatctggtgtgggcTtttttttggagttttggaat																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:57013285delT	ENST00000251047.5	-	8	1540		c.e8-2		LMAN1_ENST00000587940.1_Splice_Site	NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1						blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	TGGTGTGGGCTTTTTTTTGGA	0.294													27	89	---	---	---	---						-	57013285	T	-	57013285	8	5	242	1	0	1	0	1	0	0	1	0	8877	1623	56	0	735	0	LMAN1	18	57013285	Splice_Site	DEL	T	TCGA-KK-A59V-01A-11D-A29Q-08	9900155	57013285	21063963	914	12528											
SERPINB11	89778	broad.mit.edu	37	chr18	61390555	61390555	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgagagctcagttcaaggcGaaccaccccttccttttctt	9	12	7	13	1	3	1	2	1	1	1	4	3	4	1	4	1	2	2	4	1	2	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:61390555G>A	ENST00000544088.1	+	0	1163				SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000382749.5_RNA	NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	p.A367A(1)		breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				AGTTCAAGGCGAACCACCCCT	0.522													27	80					0	0	1	0	0	A	61390555	G	A	61390555	1	1	242	0	1	0	0	0	0	0	0	0	14152	1045	37	1		1	SERPINB11	18	61390555	RNA	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	4377270	61390555	16686693	915	12529											
CNDP1	84735	broad.mit.edu	37	chr18	72228166	72228166	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgatcccacgaaaggcaccGtgtgcttctacggccacttg	8	8	11	14	4	1	0	0	0	1	0	2	2	2	0	3	2	2	2	3	2	2	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:72228166G>A	ENST00000582365.1	+	3	316	c.250G>A	c.(250-252)Gtg>Atg	p.V84M	CNDP1_ENST00000585136.1_Intron|CNDP1_ENST00000358821.3_Missense_Mutation_p.V127M			Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	127					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		GAAAGGCACCGTGTGCTTCTA	0.602													12	194					0	0	1	0	0	A	72228166	G	A	72228166	3	1	242	1	0	0	0	0	1	0	0	0	3616	1145	40	1	393	1	CNDP1	18	72228166	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	10837611	72228166	5849082	916	12530											
ZNF407	55628	broad.mit.edu	37	chr18	72345748	72345748	+	Frame_Shift_Del	DEL	G	G	-																															atatcattgttggccctgaaGggggtagccttgaagctggt																								rs144140002		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:72345748delG	ENST00000299687.5	+	1	2773	c.2773delG	c.(2773-2775)ggfs	p.G926fs	ZNF407_ENST00000309902.6_Frame_Shift_Del_p.G926fs|ZNF407_ENST00000582337.1_Frame_Shift_Del_p.G926fs|ZNF407_ENST00000577538.1_Frame_Shift_Del_p.G926fs	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	926					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		TGGCCCTGAAGGGGGTAGCCT	0.463													8	105	---	---	---	---						-	72345748	G	-	72345748	7	5	242	1	0	1	0	1	0	0	0	0	17944	1000	35	0	2775	0	ZNF407	18	72345748	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	117582	72345748	5731500	917	12531											
ZNF407	55628	broad.mit.edu	37	chr18	72776115	72776115	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggggagatctcgcagatcatCgtgacggaggagctggtcca	9	7	16	9	3	2	3	1	1	1	2	5	6	3	5	1	5	1	2	1	5	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:72776115C>T	ENST00000299687.5	+	8	6438	c.6438C>T	c.(6436-6438)atC>atT	p.I2146I		NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	2146					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		CGCAGATCATCGTGACGGAGG	0.652													9	8					0	0	1	0	0	T	72776115	C	T	72776115	2	4	242	1	0	0	0	0	0	0	0	1	17944	874	31	1		1	ZNF407	18	72776115	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	430367	72776115	5301133	918	12532											
SALL3	27164	broad.mit.edu	37	chr18	76756938	76756938	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aacgcccccgcgagacgcggCcgccgcctgtctgtggagaa	7	4	14	16	7	1	2	0	0	1	2	1	4	1	2	5	2	1	0	5	2	2	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr18:76756938C>T	ENST00000536229.3	+	3	3613	c.2904C>T	c.(2902-2904)ggC>ggT	p.G968G	SALL3_ENST00000537592.2_Silent_p.G1173G|SALL3_ENST00000575389.2_Silent_p.G1101G			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	1173					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CGAGACGCGGCCGCCGCCTGT	0.612													11	37					0	0	1	0	0	T	76756938	C	T	76756938	2	4	242	1	0	0	0	0	0	0	0	1	13864	726	26	2		2	SALL3	18	76756938	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	3980823	76756938	1320310	919	12533											
PTBP1	5725	broad.mit.edu	37	chr19	803588	803588	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacgagcttttctctactTgtgtcactaacggaccgttt	7	15	8	11	3	2	1	1	1	1	0	3	3	2	2	1	1	3	2	1	1	2	6			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:803588T>C	ENST00000356948.6	+	3	490	c.67T>C	c.(67-69)Tgt>Cgt	p.C23R	PTBP1_ENST00000350092.4_Intron|PTBP1_ENST00000394601.4_Missense_Mutation_p.C23R|PTBP1_ENST00000349038.4_Missense_Mutation_p.C23R	NM_002819.4	NP_002810.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	23					negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTTCTCTACTTGTGTCACTAA	0.612													24	135					0	0	1	0	0	C	803588	T	C	803588	3	2	242	1	0	0	0	0	1	0	0	0	12774	1812	63	3	77	3	PTBP1	19	803588	Missense_Mutation	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08		803588	58325395	920	12534											
AP3D1	8943	broad.mit.edu	37	chr19	2116221	2116221	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaccttctgtggcgatggCgagctcttgatgtagaaggg	7	11	14	9	2	3	2	1	1	2	1	3	4	3	2	1	3	1	2	1	3	2	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:2116221C>T	ENST00000355272.6	-	18	2264	c.2058G>A	c.(2056-2058)tcG>tcA	p.S686S	AP3D1_ENST00000345016.5_Silent_p.S686S|AP3D1_ENST00000356926.4_Silent_p.S595S|AP3D1_ENST00000350812.6_Silent_p.S517S	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	686					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGGCGATGGCGAGCTCTTGA	0.652													8	18					0	0	1	0	0	T	2116221	C	T	2116221	2	4	242	1	0	0	0	0	0	0	0	1	742	755	27	1		1	AP3D1	19	2116221	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1312633	2116221	57012762	921	12535											
TMPRSS9	360200	broad.mit.edu	37	chr19	2408385	2408385	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacgaagtgggtggcctacGtgggtgcgacctacctcagc	7	7	15	12	4	1	0	1	0	0	0	1	3	1	0	3	3	4	0	3	3	3	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:2408385G>A	ENST00000332578.3	+	7	772	c.772G>A	c.(772-774)Gtg>Atg	p.V258M		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	258	Peptidase S1 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTGGCCTACGTGGGTGCGAC	0.667													23	78					0	0	1	0	0	A	2408385	G	A	2408385	3	1	242	1	0	0	0	0	1	0	0	0	16313	1145	40	1	798	1	TMPRSS9	19	2408385	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	292164	2408385	56720598	922	12536											
THOP1	7064	broad.mit.edu	37	chr19	2806990	2806990	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggggttccacacgcacGccgactatgtcctggagatg	7	9	13	12	3	0	1	0	0	0	1	2	3	2	1	3	3	1	3	3	3	1	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:2806990G>A	ENST00000307741.6	+	7	1029	c.826G>A	c.(826-828)Gcc>Acc	p.A276T	THOP1_ENST00000591149.1_3'UTR|THOP1_ENST00000586677.1_Missense_Mutation_p.A155T	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	276					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCACACGCACGCCGACTATGT	0.627													6	49					0	0	1	0	0	A	2806990	G	A	2806990	3	1	242	1	0	0	0	0	1	0	0	0	15931	1087	38	1	852	1	THOP1	19	2806990	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	398605	2806990	56321993	923	12537											
FZR1	51343	broad.mit.edu	37	chr19	3525878	3525878	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccttcaggtcacagagatgCggcggaccctgacgcctgcc	7	6	12	16	3	2	2	2	1	0	1	2	4	2	3	4	3	2	0	4	3	0	1	rs150420576		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:3525878C>T	ENST00000441788.2	+	3	318	c.82C>T	c.(82-84)Cgg>Tgg	p.R28W	FZR1_ENST00000395095.3_Missense_Mutation_p.R28W|FZR1_ENST00000313639.8_Missense_Mutation_p.R28W	NM_016263.3	NP_057347.2	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	28					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding			endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CACAGAGATGCGGCGGACCCT	0.662													21	39					0	0	1	0	0	T	3525878	C	T	3525878	3	4	242	1	0	0	0	0	1	0	0	0	6173	759	27	1	88	1	FZR1	19	3525878	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	718888	3525878	55603105	924	12538											
FZR1	51343	broad.mit.edu	37	chr19	3532474	3532474	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtacacggagcacctggcGgccgtgaaggccatcgcctg	8	5	14	14	4	0	1	0	1	0	0	1	2	0	2	4	4	2	2	4	4	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:3532474G>A	ENST00000441788.2	+	11	1304	c.1068G>A	c.(1066-1068)gcG>gcA	p.A356A	FZR1_ENST00000395095.3_Silent_p.A356A|FZR1_ENST00000313639.8_Silent_p.A267A	NM_016263.3	NP_057347.2	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	356					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding			endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCACCTGGCGGCCGTGAAGG	0.687													13	27					0	0	1	0	0	A	3532474	G	A	3532474	2	1	242	1	0	0	0	0	0	0	0	1	6173	1103	39	1		1	FZR1	19	3532474	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	6596	3532474	55596509	925	12539											
GIPC3	126326	broad.mit.edu	37	chr19	3589527	3589527	+	Frame_Shift_Del	DEL	G	G	-																															agaccctgcggcttcgttctGggggggctgccacagtggag																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:3589527delG	ENST00000322315.5	+	4	724	c.679delG	c.(679-681)ggfs	p.G228fs		NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	228										breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTTCGTTCTGGGGGGGCTGC	0.607													19	59	---	---	---	---						-	3589527	G	-	3589527	7	5	242	1	0	1	0	1	0	0	0	0	6436	1348	47	0	693	0	GIPC3	19	3589527	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	57053	3589527	55539456	926	12540											
MATK	4145	broad.mit.edu	37	chr19	3784848	3784848	+	Frame_Shift_Del	DEL	G	G	-																															gcatcctggctgagacgggaGgggggtgccaggctcggagg																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:3784848delG	ENST00000310132.6	-	3	505	c.107delC	c.(106-108)ctfs	p.P37fs	MATK_ENST00000395045.2_Frame_Shift_Del_p.P38fs|MATK_ENST00000585778.1_Frame_Shift_Del_p.P37fs|MATK_ENST00000395040.2_5'UTR	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	37					cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAGACGGGAGGGGGGTGCCA	0.657													2	4	---	---	---	---						-	3784848	G	-	3784848	7	5	242	1	0	1	0	1	0	0	0	0	9382	1000	35	0	1464	0	MATK	19	3784848	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	195321	3784848	55344135	927	12541											
FSD1	79187	broad.mit.edu	37	chr19	4310270	4310270	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgttctgttcctctctctagGctgccaagcaaatcaaagat	10	13	7	11	0	4	1	1	0	3	1	6	1	5	1	2	1	2	4	2	1	4	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:4310270G>A	ENST00000221856.6	+	5	493	c.345_splice	c.e5-1	p.A116_splice	FSD1_ENST00000597590.1_Splice_Site_p.A116_splice|FSD1_ENST00000598010.1_3'UTR	NM_024333.2	NP_077309.1	Q9BTV5	FSD1_HUMAN	fibronectin type III and SPRY domain containing 1	116	COS.				cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCTCTCTAGGCTGCCAAGCA	0.527													25	293					0	0	1	0	0	A	4310270	G	A	4310270	5	1	242	1	0	0	0	0	0	0	1	0	6105	1217	42	2	364	2	FSD1	19	4310270	Splice_Site	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	525422	4310270	54818713	928	12542											
HDGFRP2	0	broad.mit.edu	37	chr19	4496343	4496343	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtcctcaagcacagagccCgccaggaaacctggccagaa	13	3	10	15	1	1	2	1	0	0	2	2	3	2	3	5	2	3	1	5	2	3	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:4496343C>T	ENST00000301284.4	+	10	1333	c.1269C>T	c.(1267-1269)ccC>ccT	p.P423P	HDGFRP2_ENST00000586684.1_Silent_p.P423P	NM_001001520.1|NM_032631.2	NP_001001520.1|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		423					transcription, DNA-dependent	nucleus	DNA binding|protein binding										GCACAGAGCCCGCCAGGAAAC	0.627													7	23					0	0	1	0	0	T	4496343	C	T	4496343	2	4	242	1	0	0	0	0	0	0	0	1	7061	639	23	1		1	HDGFRP2	19	4496343	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	186073	4496343	54632640	929	12543											
ARRDC5	645432	broad.mit.edu	37	chr19	4902802	4902802	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccaggtagattctatcctcGggcagcactaattcgatcga	10	10	10	11	3	1	1	0	0	1	1	5	3	2	1	2	2	1	3	2	2	3	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:4902802G>A	ENST00000381781.2	-	1	77	c.78C>T	c.(76-78)ccC>ccT	p.P26P		NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	26					signal transduction					endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		TTCTATCCTCGGGCAGCACTA	0.552													5	110					0	0	1	0	0	A	4902802	G	A	4902802	2	1	242	1	0	0	0	0	0	0	0	1	985	1103	39	1		1	ARRDC5	19	4902802	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	406459	4902802	54226181	930	12544											
UHRF1	29128	broad.mit.edu	37	chr19	4929359	4929359	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gactccgagctctccgacacCgactccggctgctgcctggg	5	7	12	17	4	1	0	0	0	1	0	4	4	3	0	5	2	3	3	5	2	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:4929359C>T	ENST00000592666.1	+	0	855							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		TCTCCGACACCGACTCCGGCT	0.657													15	36					0	0	1	0	0	T	4929359	C	T	4929359	1	4	242	0	1	0	0	0	0	0	0	0	17027	639	23	1		1	UHRF1	19	4929359	RNA	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	26557	4929359	54199624	931	12545											
PTPRS	5802	broad.mit.edu	37	chr19	5245857	5245857	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacgcaggtgtagttggcCgagtccttgacatctgtgag	7	10	14	10	2	1	2	0	2	1	0	2	3	2	2	3	2	0	3	3	2	1	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:5245857C>T	ENST00000372412.4	-	10	1154	c.921G>A	c.(919-921)tcG>tcA	p.S307S	PTPRS_ENST00000588012.1_Silent_p.S293S|PTPRS_ENST00000592099.1_Silent_p.S293S|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000357368.4_Silent_p.S306S|PTPRS_ENST00000353284.2_Silent_p.S293S|PTPRS_ENST00000587303.1_Silent_p.S306S|PTPRS_ENST00000348075.2_Silent_p.S293S|PTPRS_ENST00000262963.6_Silent_p.S302S			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	306	Ig-like C2-type 3.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		TGTAGTTGGCCGAGTCCTTGA	0.617													7	27					0	0	1	0	0	T	5245857	C	T	5245857	2	4	242	1	0	0	0	0	0	0	0	1	12863	639	23	1		1	PTPRS	19	5245857	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	316498	5245857	53883126	932	12546											
DENND1C	79958	broad.mit.edu	37	chr19	6467555	6467555	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taagatcagcgactctgggcCggctgctgggctgggacttt	6	10	15	10	2	2	1	1	0	1	1	2	3	2	2	1	4	2	3	1	4	1	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:6467555C>T	ENST00000381480.2	-	23	2478	c.2366G>A	c.(2365-2367)cGg>cAg	p.R789Q	DENND1C_ENST00000543576.1_Missense_Mutation_p.R745Q	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	789						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						GACTCTGGGCCGGCTGCTGGG	0.572													19	51					0	0	1	0	0	T	6467555	C	T	6467555	3	4	242	1	0	0	0	0	1	0	0	0	4456	652	23	1	43	1	DENND1C	19	6467555	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1221698	6467555	52661428	933	12547											
EVI5L	115704	broad.mit.edu	37	chr19	7928473	7928473	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcattgtatcctctgtcccCgcgcgatgcgcgcttcttcc	3	12	9	17	6	2	0	0	0	2	0	5	1	5	0	4	0	1	3	4	0	1	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:7928473C>T	ENST00000270530.4	+	19	2466	c.2270C>T	c.(2269-2271)cCg>cTg	p.P757L	EVI5L_ENST00000538904.2_Missense_Mutation_p.P768L	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like	757						intracellular	protein binding|Rab GTPase activator activity			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						CCTCTGTCCCCGCGCGATGCG	0.697													6	2					0	0	1	0	0	T	7928473	C	T	7928473	3	4	242	1	0	0	0	0	1	0	0	0	5318	652	23	1	2377	1	EVI5L	19	7928473	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1460918	7928473	51200510	934	12548											
MAP2K7	5609	broad.mit.edu	37	chr19	7976149	7976149	+	Frame_Shift_Del	DEL	C	C	-																															ctgcagcccgagcgcattgaCcccccagaccccaccaagcc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:7976149delC	ENST00000545011.1	+	8	1061	c.996delC	c.(994-996)gafs	p.D332fs	MAP2K7_ENST00000397983.3_Frame_Shift_Del_p.D306fs|MAP2K7_ENST00000397979.3_Frame_Shift_Del_p.D290fs|MAP2K7_ENST00000397981.3_Frame_Shift_Del_p.D290fs			O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	290	Protein kinase.				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.D290D(1)		breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19					Etoposide(DB00773)	AGCGCATTGACCCCCCAGACC	0.706													12	75	---	---	---	---						-	7976149	C	-	7976149	7	5	242	1	0	1	0	1	0	0	0	0	9292	506	18	0	900	0	MAP2K7	19	7976149	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	47676	7976149	51152834	935	12549											
OLFM2	93145	broad.mit.edu	37	chr19	9964954	9964954	+	Frame_Shift_Del	DEL	G	G	-																															ggtatagagggcgcgctcccGggggttgtaatccagcatcg																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:9964954delG	ENST00000264833.4	-	6	1458	c.1273delC	c.(1273-1275)ggfs	p.R425fs	OLFM2_ENST00000590841.1_Frame_Shift_Del_p.R347fs	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	425	Olfactomedin-like.					extracellular region				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						GCGCGCTCCCGGGGGTTGTAA	0.557													30	100	---	---	---	---						-	9964954	G	-	9964954	7	5	242	1	0	1	0	1	0	0	0	0	10901	1115	39	0	95	0	OLFM2	19	9964954	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	1988805	9964954	49164029	936	12550											
PDE4A	5141	broad.mit.edu	37	chr19	10570423	10570423	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccacgtactgctggccacGcctgcactagatgtgagtga	9	8	11	13	2	0	3	0	2	0	1	0	3	0	3	3	1	3	3	3	1	2	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:10570423G>A	ENST00000380702.2	+	11	1287	c.1287G>A	c.(1285-1287)acG>acA	p.T429T	PDE4A_ENST00000592685.1_Silent_p.T429T|PDE4A_ENST00000344979.3_Silent_p.T212T|PDE4A_ENST00000440014.2_Silent_p.T390T|PDE4A_ENST00000293683.5_Silent_p.T425T|PDE4A_ENST00000352831.6_Silent_p.T451T			P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	451	Catalytic.				signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	TGCTGGCCACGCCTGCACTAG	0.587													13	36					0	0	1	0	0	A	10570423	G	A	10570423	2	1	242	1	0	0	0	0	0	0	0	1	11686	1074	38	1		1	PDE4A	19	10570423	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	605469	10570423	48558560	937	12551											
KEAP1	9817	broad.mit.edu	37	chr19	10597450	10597450	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaggtgtctgtatctgggtCgtaacactccacactgtcca	8	11	9	13	1	2	0	0	0	2	0	5	0	4	0	3	2	1	2	3	2	2	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:10597450C>T	ENST00000171111.5	-	6	2300	c.1753G>A	c.(1753-1755)Gac>Aac	p.D585N	KEAP1_ENST00000393623.2_Missense_Mutation_p.D585N	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	585					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			GTATCTGGGTCGTAACACTCC	0.592													37	99					0	0	1	0	0	T	10597450	C	T	10597450	3	4	242	1	0	0	0	0	1	0	0	0	8184	884	31	1	125	1	KEAP1	19	10597450	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	27027	10597450	48531533	938	12552											
AP1M2	10053	broad.mit.edu	37	chr19	10690405	10690405	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcacctgggtgctgaggCggtatgacatgagctcaaag	9	8	14	10	1	2	3	2	3	0	0	2	3	2	3	2	3	2	3	2	3	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:10690405C>T	ENST00000590923.1	-	7	892	c.809G>A	c.(808-810)cGc>cAc	p.R270H	AP1M2_ENST00000250244.6_Missense_Mutation_p.R268H			Q9Y6Q5	AP1M2_HUMAN	adaptor-related protein complex 1, mu 2 subunit	268	MHD.				cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding			endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	9			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			GGTGCTGAGGCGGTATGACAT	0.607													33	92					0	0	1	0	0	T	10690405	C	T	10690405	3	4	242	1	0	0	0	0	1	0	0	0	731	768	27	1	492	1	AP1M2	19	10690405	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	92955	10690405	48438578	939	12553											
ZNF709	163051	broad.mit.edu	37	chr19	12575498	12575498	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggtttctctccagtgtgaGttctttcatgcattcgaaag	7	15	11	8	1	3	1	1	1	2	0	6	2	4	1	1	2	1	3	1	2	1	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:12575498G>A	ENST00000397732.3	-	4	1409	c.1238C>T	c.(1237-1239)aCt>aTt	p.T413I	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T413I(2)		large_intestine(3)|upper_aerodigestive_tract(3)	6						TCCAGTGTGAGTTCTTTCATG	0.418													4	136					0	0	1	0	0	A	12575498	G	A	12575498	3	1	242	1	0	0	0	0	1	0	0	0	18169	1029	36	2	691	2	ZNF709	19	12575498	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1885093	12575498	46553485	940	12554											
ZNF564	163050	broad.mit.edu	37	chr19	12638262	12638262	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattcatagggtttctctccAgtgtgagttctttcatgtat	7	18	8	8	0	4	1	2	1	2	0	6	1	5	1	1	1	0	3	1	1	2	6			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:12638262A>C	ENST00000339282.7	-	4	856	c.660T>G	c.(658-660)acT>acG	p.T220T	ZNF709_ENST00000428311.1_Intron|CTD-2192J16.20_ENST00000593682.1_3'UTR	NM_144976.3	NP_659413.1			zinc finger protein 564											endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						GTTTCTCTCCAGTGTGAGTTC	0.398													4	99					0	0	1	0	0	C	12638262	A	C	12638262	2	2	242	1	0	0	0	0	0	0	0	1	18052	175	7	5		5	ZNF564	19	12638262	Silent	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	62764	12638262	46490721	941	12555											
MAN2B1	4125	broad.mit.edu	37	chr19	12767772	12767772	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccggctcacgcgcgccgcCgtctggctgagcgggcagat	4	6	15	16	7	2	2	1	1	1	1	3	2	3	2	3	3	1	3	3	3	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:12767772C>T	ENST00000456935.2	-	12	1558	c.1518G>A	c.(1516-1518)acG>acA	p.T506T	MAN2B1_ENST00000495617.1_5'UTR|MAN2B1_ENST00000221363.4_Silent_p.T505T	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	506					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CGCGCGCCGCCGTCTGGCTGA	0.562													8	16					0	0	1	0	0	T	12767772	C	T	12767772	2	4	242	1	0	0	0	0	0	0	0	1	9266	639	23	1		1	MAN2B1	19	12767772	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	129510	12767772	46361211	942	12556											
FBXW9	84261	broad.mit.edu	37	chr19	12800212	12800212	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcccattgtcatgccttcGggtgcaaatggtccttggtg	6	12	13	10	1	1	0	1	0	0	0	3	1	2	0	3	3	3	1	3	3	1	3	rs146837377	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:12800212G>A	ENST00000380339.3	-	9	1402	c.1366C>T	c.(1366-1368)Cga>Tga	p.R456*	FBXW9_ENST00000393261.3_Nonsense_Mutation_p.R426*|FBXW9_ENST00000544494.1_Nonsense_Mutation_p.R164*|FBXW9_ENST00000587955.1_Nonsense_Mutation_p.R446*			Q5XUX1	FBXW9_HUMAN	F-box and WD repeat domain containing 9	456							protein binding			cervix(1)|lung(4)|ovary(1)|prostate(1)	7						TCATGCCTTCGGGTGCAAATG	0.622													11	28					0	0	1	0	0	A	12800212	G	A	12800212	4	1	242	1	0	0	0	0	0	1	0	0	5804	1124	39	1	108	1	FBXW9	19	12800212	Nonsense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	32440	12800212	46328771	943	12557											
NACC1	112939	broad.mit.edu	37	chr19	13249043	13249043	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgcaccaacgcccgccgCgtcgtgcgcaagagctggat	8	6	13	14	6	0	1	0	0	0	1	1	2	0	2	3	1	4	3	3	1	2	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:13249043C>T	ENST00000292431.4	+	6	1533	c.1407C>T	c.(1405-1407)cgC>cgT	p.R469R		NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN	nucleus accumbens associated 1, BEN and BTB (POZ) domain containing	469	BEN.				negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						ACGCCCGCCGCGTCGTGCGCA	0.607													61	158					0	0	1	0	0	T	13249043	C	T	13249043	2	4	242	1	0	0	0	0	0	0	0	1	10183	755	27	1		1	NACC1	19	13249043	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	448831	13249043	45879940	944	12558											
CACNA1A	773	broad.mit.edu	37	chr19	13409842	13409842	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgccgagccgctggggtcccGggcccgatcgtggtagcggg	3	5	19	14	7	0	0	0	0	0	0	2	2	1	0	4	5	2	2	4	5	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:13409842G>A	ENST00000360228.5	-	19	2604	c.2605C>T	c.(2605-2607)Cgg>Tgg	p.R869W	CACNA1A_ENST00000573710.2_Missense_Mutation_p.R870W	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	870					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CTGGGGTCCCGGGCCCGATCG	0.751													3	25					0	0	1	0	0	A	13409842	G	A	13409842	3	1	242	1	0	0	0	0	1	0	0	0	2556	1115	39	1	5133	1	CACNA1A	19	13409842	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	160799	13409842	45719141	945	12559											
CCDC130	81576	broad.mit.edu	37	chr19	13868281	13868281	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggctgcaagaaccacatcGgcatgggtgagcctctgccc	9	7	12	13	1	1	2	0	1	1	1	2	2	1	2	3	3	4	3	3	3	2	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:13868281G>A	ENST00000586600.1	+	6	693	c.190G>A	c.(190-192)Ggc>Agc	p.G64S	CCDC130_ENST00000221554.8_Missense_Mutation_p.G64S			P13994	CC130_HUMAN	coiled-coil domain containing 130	64					response to virus		protein binding			endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			GAACCACATCGGCATGGGTGA	0.557													9	18					0	0	1	0	0	A	13868281	G	A	13868281	3	1	242	1	0	0	0	0	1	0	0	0	2784	1116	39	1	204	1	CCDC130	19	13868281	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	458439	13868281	45260702	946	12560											
CC2D1A	54862	broad.mit.edu	37	chr19	14024105	14024105	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagatgcggcgctacgatcGggggcttaaagtaagtgggc	10	7	16	8	4	0	1	0	0	0	1	1	2	0	1	0	4	2	3	0	4	5	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:14024105G>A	ENST00000318003.7	+	5	744	c.503G>A	c.(502-504)cGg>cAg	p.R168Q	CC2D1A_ENST00000589606.1_Missense_Mutation_p.R168Q	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	168					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			CGCTACGATCGGGGGCTTAAA	0.607													15	55					0	0	1	0	0	A	14024105	G	A	14024105	3	1	242	1	0	0	0	0	1	0	0	0	2744	1116	39	1	521	1	CC2D1A	19	14024105	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	155824	14024105	45104878	947	12561											
CC2D1A	54862	broad.mit.edu	37	chr19	14029735	14029736	+	Frame_Shift_Ins	INS	-	-	C																															ccggcccagaggtgcccccaINScccccgaggaccctgctgga																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:14029735_14029736insC	ENST00000318003.7	+	10	1270_1271	c.1029_1030insC	c.(1027-1032)ccccccfs	p.PP343fs	CC2D1A_ENST00000589606.1_Frame_Shift_Ins_p.PP343fs	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	343	Pro-rich.				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			AGGTGCCCCCACCCCCGAGGAC	0.668													10	30	---	---	---	---						C	14029736	-	C	14029735	7	5	242	1	0	1	1	0	0	0	0	0	2744	146	6	0	1067	0	CC2D1A	19	14029735	Frame_Shift_Ins	INS	-	TCGA-KK-A59V-01A-11D-A29Q-08	5630	14029735	45099248	948	12562											
LPHN1	22859	broad.mit.edu	37	chr19	14267939	14267939	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaatagtgcagcaggccggCgaagatggggcaggcaatct	12	5	16	8	2	1	1	0	0	1	1	1	3	1	1	1	5	2	4	1	5	4	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:14267939C>T	ENST00000340736.6	-	16	3076	c.2779G>A	c.(2779-2781)Gcc>Acc	p.A927T	CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000592086.1_RNA|LPHN1_ENST00000361434.3_Missense_Mutation_p.A922T	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	927					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGCAGGCCGGCGAAGATGGGG	0.642													15	36					0	0	1	0	0	T	14267939	C	T	14267939	3	4	242	1	0	0	0	0	1	0	0	0	8960	768	27	1	1681	1	LPHN1	19	14267939	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	238204	14267939	44861044	949	12563											
PKN1	5585	broad.mit.edu	37	chr19	14562728	14562728	+	Frame_Shift_Del	DEL	C	C	-																															ctcaatggggggacctgggaCcccagacagccgccccccct																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:14562728delC	ENST00000242783.6	+	7	1223	c.1058delC	c.(1057-1059)acfs	p.T353fs	PKN1_ENST00000342216.4_Frame_Shift_Del_p.T359fs	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	353	C2.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						GGACCTGGGACCCCAGACAGC	0.682													14	33	---	---	---	---						-	14562728	C	-	14562728	7	5	242	1	0	1	0	1	0	0	0	0	12027	507	18	0	1127	0	PKN1	19	14562728	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	294789	14562728	44566255	950	12564											
NDUFB7	4713	broad.mit.edu	37	chr19	14677003	14677003	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctttggccaactctgccGccttcttctcccgccgcttc	2	12	8	19	3	3	0	0	0	3	0	5	0	3	0	6	2	2	1	6	2	1	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:14677003G>A	ENST00000215565.2	-	3	417	c.356C>T	c.(355-357)gCg>gTg	p.A119V		NM_004146.5	NP_004137.2	P17568	NDUB7_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 7, 18kDa	119					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8					NADH(DB00157)	CAACTCTGCCGCCTTCTTCTC	0.627													12	31					0	0	1	0	0	A	14677003	G	A	14677003	3	1	242	1	0	0	0	0	1	0	0	0	10333	1087	38	1	61	1	NDUFB7	19	14677003	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	114275	14677003	44451980	951	12565											
BRD4	23476	broad.mit.edu	37	chr19	15366907	15366907	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgctgctattatttttcttCgtctttttaggaggaggttc	5	21	9	6	1	2	0	0	0	2	0	4	2	2	2	0	3	2	3	0	3	3	10	rs142701429	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:15366907C>T	ENST00000263377.2	-	9	1940	c.1719G>A	c.(1717-1719)acG>acA	p.T573T	BRD4_ENST00000371835.4_Silent_p.T573T|BRD4_ENST00000360016.5_Silent_p.T573T	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	573	Lys-rich.				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			tatttttcttcgtctttttag	0.443			T	C15orf55	lethal midline carcinoma of young people								4	39					0	0	1	0	0	T	15366907	C	T	15366907	2	4	242	1	0	0	0	0	0	0	0	1	1506	871	31	1		1	BRD4	19	15366907	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	689904	15366907	43762076	952	12566											
BRD4	23476	broad.mit.edu	37	chr19	15366930	15366930	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttttaggaggaggttcctTggctttgctttttttattct	4	22	9	6	0	1	0	0	0	1	0	2	2	2	2	1	4	1	3	1	4	2	11			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:15366930T>C	ENST00000263377.2	-	9	1917	c.1696A>G	c.(1696-1698)Aag>Gag	p.K566E	BRD4_ENST00000371835.4_Missense_Mutation_p.K566E|BRD4_ENST00000360016.5_Missense_Mutation_p.K566E	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	566	Lys-rich.				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			ggaggttccttggctttgctt	0.418			T	C15orf55	lethal midline carcinoma of young people								11	39					0	0	1	0	0	C	15366930	T	C	15366930	3	2	242	1	0	0	0	0	1	0	0	0	1506	1821	63	3	2455	3	BRD4	19	15366930	Missense_Mutation	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	23	15366930	43762053	953	12567											
MYO9B	4650	broad.mit.edu	37	chr19	17270255	17270255	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accaaaagaaaaacggtgacCgtcaacgacaagcttatcct	17	6	7	11	3	1	2	1	1	0	1	2	3	2	2	3	1	3	1	3	1	7	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:17270255C>T	ENST00000595618.1	+	8	1532	c.1380C>T	c.(1378-1380)acC>acT	p.T460T	CTD-3032J10.2_ENST00000599360.1_RNA|MYO9B_ENST00000397274.2_Silent_p.T460T|CTD-3032J10.2_ENST00000597216.1_RNA|MYO9B_ENST00000594824.1_Silent_p.T460T	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	460	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						AAACGGTGACCGTCAACGACA	0.517													4	20					0	0	1	0	0	T	17270255	C	T	17270255	2	4	242	1	0	0	0	0	0	0	0	1	10133	639	23	1		1	MYO9B	19	17270255	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1903325	17270255	41858728	954	12568											
SLC27A1	376497	broad.mit.edu	37	chr19	17608233	17608233	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aatcggggagttctacggcgCcaccgagtgcaactgcagca	10	6	13	12	4	1	0	0	0	1	0	2	2	1	1	2	3	5	4	2	3	3	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:17608233C>T	ENST00000252595.7	+	7	1263	c.1166C>T	c.(1165-1167)gCc>gTc	p.A389V	SLC27A1_ENST00000598424.1_Missense_Mutation_p.A210V|SLC27A1_ENST00000442725.1_Missense_Mutation_p.A389V|CTD-3131K8.2_ENST00000596643.1_lincRNA	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	389	Sufficient for oligomerization (By similarity).				cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TTCTACGGCGCCACCGAGTGC	0.667													16	20					0	0	1	0	0	T	17608233	C	T	17608233	3	4	242	1	0	0	0	0	1	0	0	0	14580	739	26	2	1192	2	SLC27A1	19	17608233	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	337978	17608233	41520750	955	12569											
UNC13A	23025	broad.mit.edu	37	chr19	17766855	17766855	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctggcgggaggctgatgcGtttgaagtctttgggctcag	6	11	17	7	2	2	2	1	2	1	0	2	3	2	3	0	4	2	4	0	4	1	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:17766855G>A	ENST00000428389.2	-	11	1383	c.1384C>T	c.(1384-1386)Cgc>Tgc	p.R462C	UNC13A_ENST00000550896.1_Missense_Mutation_p.R374C|UNC13A_ENST00000551649.1_Missense_Mutation_p.R374C|UNC13A_ENST00000552293.1_Missense_Mutation_p.R374C|UNC13A_ENST00000519716.2_Missense_Mutation_p.R374C|UNC13A_ENST00000252773.7_Missense_Mutation_p.R374C			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	374					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						AGGCTGATGCGTTTGAAGTCT	0.652													3	7					0	0	1	0	0	A	17766855	G	A	17766855	3	1	242	1	0	0	0	0	1	0	0	0	17044	1145	40	1	4123	1	UNC13A	19	17766855	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	158622	17766855	41362128	956	12570											
LRRC25	126364	broad.mit.edu	37	chr19	18507627	18507627	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggttgtgaggcaggctcagGctgaggccactgaaattcag	9	9	15	8	0	2	3	2	3	0	0	2	3	2	3	1	5	0	4	1	5	1	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:18507627G>A	ENST00000339007.3	-	1	800	c.147C>T	c.(145-147)agC>agT	p.S49S	LRRC25_ENST00000595840.1_Silent_p.S49S	NM_145256.2	NP_660299.2	Q8N386	LRC25_HUMAN	leucine rich repeat containing 25	49						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						GCAGGCTCAGGCTGAGGCCAC	0.607													14	38					0	0	1	0	0	A	18507627	G	A	18507627	2	1	242	1	0	0	0	0	0	0	0	1	9025	1194	42	2		2	LRRC25	19	18507627	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	740772	18507627	40621356	957	12571											
FKBP8	23770	broad.mit.edu	37	chr19	18648497	18648497	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagggctgcgcggtagtggtCgagcttcagctgcgaggccg	5	7	18	11	5	1	0	1	0	0	0	2	2	1	0	1	4	4	4	1	4	1	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:18648497C>T	ENST00000597960.2	-	6	979	c.859G>A	c.(859-861)Gac>Aac	p.D287N	FKBP8_ENST00000453489.2_Missense_Mutation_p.D315N|FKBP8_ENST00000544835.2_Missense_Mutation_p.D127N|FKBP8_ENST00000596558.1_Missense_Mutation_p.D286N|FKBP8_ENST00000222308.3_Missense_Mutation_p.D287N			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	286					apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						CGGTAGTGGTCGAGCTTCAGC	0.607													13	45					0	0	1	0	0	T	18648497	C	T	18648497	3	4	242	1	0	0	0	0	1	0	0	0	5947	884	31	1	398	1	FKBP8	19	18648497	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	140870	18648497	40480486	958	12572											
CRTC1	23373	broad.mit.edu	37	chr19	18888096	18888096	+	Frame_Shift_Del	DEL	C	C	-																															ctggacgaactcaagatcgaCcccctgaccctcgacggact																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:18888096delC	ENST00000338797.6	+	15	1882	c.1857delC	c.(1855-1857)gafs	p.D619fs	CRTC1_ENST00000594658.1_Frame_Shift_Del_p.D562fs|CRTC1_ENST00000321949.8_Frame_Shift_Del_p.D603fs|CRTC1_ENST00000601916.1_Frame_Shift_Del_p.D361fs	NM_001098482.1	NP_001091952.1	Q6UUV9	CRTC1_HUMAN	CREB regulated transcription coactivator 1	603					interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						TCAAGATCGACCCCCTGACCC	0.642													17	567	---	---	---	---						-	18888096	C	-	18888096	7	5	242	1	0	1	0	1	0	0	0	0	3922	506	18	0	1915	0	CRTC1	19	18888096	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	239599	18888096	40240887	959	12573											
ZNF708	7562	broad.mit.edu	37	chr19	21476363	21476363	+	Frame_Shift_Del	DEL	T	T	-																															gggtttctctccagtatgaaTttttttatgattagtaaaat																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:21476363delT	ENST00000356929.3	-	4	1602	c.1405delA	c.(1405-1407)ttfs	p.I469fs		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	469					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						CCAGTATGAATTTTTTTATGA	0.313													13	32	---	---	---	---						-	21476363	T	-	21476363	7	5	242	1	0	1	0	1	0	0	0	0	18168	1493	52	0	290	0	ZNF708	19	21476363	Frame_Shift_Del	DEL	T	TCGA-KK-A59V-01A-11D-A29Q-08	2588267	21476363	37652620	960	12574											
RHPN2	85415	broad.mit.edu	37	chr19	33487111	33487111	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtgatgagccatggctctgCgcaagtgggacttccctgca	7	9	13	12	2	1	2	0	2	1	0	2	3	2	3	2	2	3	3	2	2	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:33487111C>T	ENST00000254260.3	-	11	1276	c.1241G>A	c.(1240-1242)cGc>cAc	p.R414H	RHPN2_ENST00000400226.4_Missense_Mutation_p.R263H	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	414	BRO1.			HLRRAMA -> TCADHG (in Ref. 2; AAK58588).	signal transduction	perinuclear region of cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					CATGGCTCTGCGCAAGTGGGA	0.607													19	48					0	0	1	0	0	T	33487111	C	T	33487111	3	4	242	1	0	0	0	0	1	0	0	0	13401	768	27	1	839	1	RHPN2	19	33487111	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	12010748	33487111	25641872	961	12575											
ZNF599	148103	broad.mit.edu	37	chr19	35250723	35250723	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtatgaatcctcatatgtTgagcaaatgaggagctgtag	13	11	11	6	0	1	3	1	3	0	0	2	4	2	4	1	1	2	5	1	1	5	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:35250723T>C	ENST00000329285.7	-	4	1356	c.983A>G	c.(982-984)cAa>cGa	p.Q328R		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	328					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			CCTCATATGTTGAGCAAATGA	0.428													19	47					0	0	1	0	0	C	35250723	T	C	35250723	3	2	242	1	0	0	0	0	1	0	0	0	18086	1812	63	3	787	3	ZNF599	19	35250723	Missense_Mutation	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	1763612	35250723	23878260	962	12576											
HPN	3249	broad.mit.edu	37	chr19	35556186	35556186	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgtgcctcccagctgccGgccaggccctggtggatggc	3	8	15	15	1	0	0	0	0	0	0	1	1	1	1	5	5	3	1	5	5	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:35556186G>A	ENST00000262626.2	+	10	1669	c.844G>A	c.(844-846)Ggc>Agc	p.G282S	HPN_ENST00000392226.1_Missense_Mutation_p.G282S|HPN-AS1_ENST00000392227.2_RNA|HPN_ENST00000597419.1_Missense_Mutation_p.G124S	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	282	Peptidase S1.				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	CCCAGCTGCCGGCCAGGCCCT	0.617													15	52					0	0	1	0	0	A	35556186	G	A	35556186	3	1	242	1	0	0	0	0	1	0	0	0	7377	1116	39	1	878	1	HPN	19	35556186	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	305463	35556186	23572797	963	12577											
SIPA1L3	23094	broad.mit.edu	37	chr19	38597179	38597179	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggcatttctgtttcagccGactccacgggaacccactcc	7	10	8	16	2	2	0	1	0	1	0	4	2	4	1	4	2	2	2	4	2	1	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:38597179G>A	ENST00000222345.6	+	7	2541	c.2032G>A	c.(2032-2034)Gac>Aac	p.D678N		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	678	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TGTTTCAGCCGACTCCACGGG	0.507													26	87					0	0	1	0	0	A	38597179	G	A	38597179	3	1	242	1	0	0	0	0	1	0	0	0	14386	1058	37	1	2050	1	SIPA1L3	19	38597179	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	3040993	38597179	20531804	964	12578											
YIF1B	90522	broad.mit.edu	37	chr19	38798088	38798088	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catgaacacaaagatggctaCgcagcaccagcccagcacca	15	3	8	15	1	0	2	0	1	0	1	0	2	0	2	3	1	5	4	3	1	3	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:38798088C>T	ENST00000392124.3	-	6	990	c.676G>A	c.(676-678)Gta>Ata	p.V226I	YIF1B_ENST00000592694.1_Missense_Mutation_p.V226I|YIF1B_ENST00000592246.1_Missense_Mutation_p.V191I|YIF1B_ENST00000337679.8_Missense_Mutation_p.V254I|YIF1B_ENST00000591784.1_Missense_Mutation_p.V226I|YIF1B_ENST00000339413.6_Missense_Mutation_p.V257I|YIF1B_ENST00000591755.1_Missense_Mutation_p.V254I|YIF1B_ENST00000329420.8_Missense_Mutation_p.V242I	NM_033557.3	NP_291035.1	Q5BJH7	YIF1B_HUMAN	Yip1 interacting factor homolog B (S. cerevisiae)	257						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)	10	all_cancers(60;1.07e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AAGATGGCTACGCAGCACCAG	0.622													8	31					0	0	1	0	0	T	38798088	C	T	38798088	3	4	242	1	0	0	0	0	1	0	0	0	17536	536	19	1	264	1	YIF1B	19	38798088	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	200909	38798088	20330895	965	12579											
RYR1	6261	broad.mit.edu	37	chr19	38976306	38976306	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaccctgcgcctctaccgcGctgtgtgcgccctgggcaac	5	7	11	18	4	1	0	0	0	1	0	1	0	1	0	4	1	4	2	4	1	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:38976306G>A	ENST00000355481.4	+	34	5142	c.5011G>A	c.(5011-5013)Gct>Act	p.A1671T	RYR1_ENST00000359596.3_Missense_Mutation_p.A1671T|RYR1_ENST00000360985.3_Missense_Mutation_p.A1671T	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1671	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCTCTACCGCGCTGTGTGCGC	0.667													30	74					0	0	1	0	0	A	38976306	G	A	38976306	3	1	242	1	0	0	0	0	1	0	0	0	13820	1087	38	1	5145	1	RYR1	19	38976306	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	178218	38976306	20152677	966	12580											
DLL3	10683	broad.mit.edu	37	chr19	39994903	39994903	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggccctgtgacgggaaccCgtgtgccaatggaggcagct	7	7	16	11	2	0	1	0	1	0	0	0	3	0	3	3	4	3	2	3	4	2	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:39994903C>T	ENST00000205143.4	+	5	852	c.845C>T	c.(844-846)cCg>cTg	p.P282L	DLL3_ENST00000356433.5_Missense_Mutation_p.P282L	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	delta-like 3 (Drosophila)	282	EGF-like 2.				Notch signaling pathway|skeletal system development	integral to membrane	Notch binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GACGGGAACCCGTGTGCCAAT	0.647													8	44					0	0	1	0	0	T	39994903	C	T	39994903	3	4	242	1	0	0	0	0	1	0	0	0	4595	652	23	1	863	1	DLL3	19	39994903	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1018597	39994903	19134080	967	12581											
DYRK1B	9149	broad.mit.edu	37	chr19	40316563	40316563	+	Frame_Shift_Del	DEL	G	G	-																															ggctcacatccatcagctccGggggtggtggtgaggttggt																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:40316563delG	ENST00000593685.1	-	11	2150	c.1682delC	c.(1681-1683)cgfs	p.P561fs	DYRK1B_ENST00000430012.2_Frame_Shift_Del_p.P521fs|DYRK1B_ENST00000348817.3_Frame_Shift_Del_p.P533fs|DYRK1B_ENST00000597639.1_Frame_Shift_Del_p.P533fs|DYRK1B_ENST00000323039.5_Frame_Shift_Del_p.P561fs			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	561	Poly-Pro.				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			CATCAGCTCCGGGGGTGGTGG	0.711													10	135	---	---	---	---						-	40316563	G	-	40316563	7	5	242	1	0	1	0	1	0	0	0	0	4881	1116	39	0	211	0	DYRK1B	19	40316563	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	321660	40316563	18812420	968	12582											
MAP3K10	4294	broad.mit.edu	37	chr19	40711065	40711065	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccccacgggcggccagatttCggtagcatcttgaagcggct	7	8	13	13	4	1	2	0	1	1	1	2	2	1	2	3	4	2	3	3	4	2	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:40711065C>T	ENST00000253055.3	+	4	1338	c.1050C>T	c.(1048-1050)ttC>ttT	p.F350F		NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	350	Protein kinase.				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GGCCAGATTTCGGTAGCATCT	0.597													14	153					0	0	1	0	0	T	40711065	C	T	40711065	2	4	242	1	0	0	0	0	0	0	0	1	9294	883	31	1		1	MAP3K10	19	40711065	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	394502	40711065	18417918	969	12583											
MAP3K10	4294	broad.mit.edu	37	chr19	40719433	40719433	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccggttgcagaggagttcgCggaggcagaggatggaggca	9	6	19	7	3	0	2	0	0	0	2	2	6	1	6	1	7	1	5	1	7	0	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:40719433C>T	ENST00000253055.3	+	9	2135	c.1847C>T	c.(1846-1848)gCg>gTg	p.A616V		NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	616					activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GAGGAGTTCGCGGAGGCAGAG	0.711													10	23					0	0	1	0	0	T	40719433	C	T	40719433	3	4	242	1	0	0	0	0	1	0	0	0	9294	768	27	1	1881	1	MAP3K10	19	40719433	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	8368	40719433	18409550	970	12584											
MAP3K10	4294	broad.mit.edu	37	chr19	40720904	40720904	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccttctggacttcccccGcctgcccgacccccaggccc	4	7	8	22	2	1	1	0	1	1	0	2	3	2	2	8	2	1	0	8	2	0	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:40720904G>A	ENST00000253055.3	+	10	2858	c.2570G>A	c.(2569-2571)cGc>cAc	p.R857H		NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	857					activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity	p.R857H(1)		NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GACTTCCCCCGCCTGCCCGAC	0.677													17	43					0	0	1	0	0	A	40720904	G	A	40720904	3	1	242	1	0	0	0	0	1	0	0	0	9294	1087	38	1	2608	1	MAP3K10	19	40720904	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1471	40720904	18408079	971	12585											
BLVRB	645	broad.mit.edu	37	chr19	40964125	40964125	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgccacaatgttccgggCgccctcggacatcactgtcg	6	8	12	15	4	1	0	1	0	0	0	4	1	2	1	3	3	1	2	3	3	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:40964125C>T	ENST00000263368.4	-	3	422	c.271G>A	c.(271-273)Gcc>Acc	p.A91T	BLVRB_ENST00000595483.1_Missense_Mutation_p.A91T	NM_000713.2	NP_000704.1	P30043	BLVRB_HUMAN	biliverdin reductase B (flavin reductase (NADPH))	91					heme catabolic process	cytosol	biliverdin reductase activity|binding|flavin reductase activity			large_intestine(3)|lung(3)	6			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		NADH(DB00157)|Riboflavin(DB00140)	ATGTTCCGGGCGCCCTCGGAC	0.687													4	24					0	0	1	0	0	T	40964125	C	T	40964125	3	4	242	1	0	0	0	0	1	0	0	0	1451	768	27	1	361	1	BLVRB	19	40964125	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	243221	40964125	18164858	972	12586											
ERF	2077	broad.mit.edu	37	chr19	42752695	42752695	+	Frame_Shift_Del	DEL	C	C	-																															acccgccttggggtgaggggCcccccagcctccccaggccc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:42752695delC	ENST00000222329.4	-	4	1726	c.1569delG	c.(1567-1569)ggfs	p.G523fs	AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000440177.2_Frame_Shift_Del_p.G448fs	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	523					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				GGGTGAGGGGCCCCCCAGCCT	0.697													35	50	---	---	---	---						-	42752695	C	-	42752695	7	5	242	1	0	1	0	1	0	0	0	0	5249	726	26	0	81	0	ERF	19	42752695	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	1788570	42752695	16376288	973	12587											
CIC	23152	broad.mit.edu	37	chr19	42796883	42796883	+	Frame_Shift_Del	DEL	C	C	-																															cctggcccagccatcccaggCccccccaagcctggtctaca																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:42796883delC	ENST00000572681.2	+	15	6133	c.6065delC	c.(6064-6066)gcfs	p.A2022fs	CIC_ENST00000575354.2_Frame_Shift_Del_p.A1114fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.A1113fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1114					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.S1117fs*34(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCATCCCAGGCCCCCCCAAGC	0.682			"Mis, F, S"		oligodendroglioma								10	124	---	---	---	---						-	42796883	C	-	42796883	7	5	242	1	0	1	0	1	0	0	0	0	3446	739	26	0	3395	0	CIC	19	42796883	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	44188	42796883	16332100	974	12588											
PSG4	5672	broad.mit.edu	37	chr19	43698501	43698501	+	Missense_Mutation	SNP	T	T	C																															gatccacttaccagagacttTgactgtgatggatttggagc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:43698501T>C	ENST00000405312.3	-	5	1471	c.1234A>G	c.(1234-1236)Aaa>Gaa	p.K412E	PSG4_ENST00000433626.2_Missense_Mutation_p.K319E|PSG4_ENST00000244295.9_Missense_Mutation_p.K319E	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	412					defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				CCAGAGACTTTGACTGTGATG	0.463													82	220					0	0	1	0	0	C	43698501	T	C	43698501	3	2	242	1	0	0	0	0	1	0	0	0	12706	1821	63	3	33	3	PSG4	19	43698501	Missense_Mutation	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	901618	43698501	15430482	975	12589	62	2									
PSG4	5672	broad.mit.edu	37	chr19	43698508	43698508	+	Missense_Mutation	SNP	G	G	C																															ttaccagagactttgactgtGatggatttggagctttcctt																								rs145716593		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:43698508G>C	ENST00000405312.3	-	5	1464	c.1227C>G	c.(1225-1227)atC>atG	p.I409M	PSG4_ENST00000433626.2_Missense_Mutation_p.I316M|PSG4_ENST00000244295.9_Missense_Mutation_p.I316M	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	409	Ig-like C2-type 3.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				CTTTGACTGTGATGGATTTGG	0.453													86	214					0	0	1	0	0	C	43698508	G	C	43698508	3	2	242	1	0	0	0	0	1	0	0	0	12706	1280	45	4	40	4	PSG4	19	43698508	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	7	43698508	15430475	976	12590	62	2									
ETHE1	23474	broad.mit.edu	37	chr19	44015716	44015716	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggctggccctggtctccaaCgcctggcaggggtggaagag	6	6	18	11	1	1	1	0	0	1	1	2	2	1	2	3	7	1	2	3	7	2	0	rs138427304		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:44015716C>T	ENST00000600651.1	-	4	401	c.378G>A	c.(376-378)gcG>gcA	p.A126A	ETHE1_ENST00000292147.2_Silent_p.A126A			O95571	ETHE1_HUMAN	ethylmalonic encephalopathy 1	126						mitochondrial matrix|nucleus	hydrolase activity|metal ion binding			central_nervous_system(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	5		Prostate(69;0.0153)				TGGTCTCCAACGCCTGGCAGG	0.577													13	34					0	0	1	0	0	T	44015716	C	T	44015716	2	4	242	1	0	0	0	0	0	0	0	1	5300	523	19	1		1	ETHE1	19	44015716	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	317208	44015716	15113267	977	12591											
KCNN4	3783	broad.mit.edu	37	chr19	44278577	44278577	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcatggccagggacagcagCgcttccccttggcccaggaa	9	5	13	14	1	0	0	0	0	0	0	1	2	1	2	4	4	3	3	4	4	1	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:44278577C>T	ENST00000262888.3	-	3	845	c.450G>A	c.(448-450)gcG>gcA	p.A150A		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	150					defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)	GGGACAGCAGCGCTTCCCCTT	0.731											OREG0025535	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	9					0	0	1	0	0	T	44278577	C	T	44278577	2	4	242	1	0	0	0	0	0	0	0	1	8125	755	27	1		1	KCNN4	19	44278577	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	262861	44278577	14850406	978	12592											
CEACAM16	388551	broad.mit.edu	37	chr19	45211162	45211162	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgccacgatgatcgtgcccGtgcccaccaagccaacggag	9	6	11	15	4	0	1	0	1	0	0	1	3	0	2	5	1	5	0	5	1	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:45211162G>A	ENST00000587331.1	+	6	1185	c.970G>A	c.(970-972)Gtg>Atg	p.V324M	CEACAM16_ENST00000405314.2_Missense_Mutation_p.V324M|CTB-171A8.1_ENST00000590796.1_RNA	NM_001039213.2	NP_001034302.2	A7LI12	A7LI12_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 16	324										endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				GATCGTGCCCGTGCCCACCAA	0.652													5	15					0	0	1	0	0	A	45211162	G	A	45211162	3	1	242	1	0	0	0	0	1	0	0	0	3210	1145	40	1	988	1	CEACAM16	19	45211162	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	932585	45211162	13917821	979	12593											
CEACAM16	388551	broad.mit.edu	37	chr19	45211237	45211237	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaggacctgctggtctacGcctggtaccgcgggcctgcc	5	7	13	16	3	1	0	0	0	1	0	1	1	1	1	6	4	4	2	6	4	3	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:45211237G>A	ENST00000587331.1	+	6	1260	c.1045G>A	c.(1045-1047)Gcc>Acc	p.A349T	CEACAM16_ENST00000405314.2_Missense_Mutation_p.A349T|CTB-171A8.1_ENST00000590796.1_RNA	NM_001039213.2	NP_001034302.2	A7LI12	A7LI12_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 16	349										endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				GCTGGTCTACGCCTGGTACCG	0.682													6	13					0	0	1	0	0	A	45211237	G	A	45211237	3	1	242	1	0	0	0	0	1	0	0	0	3210	1087	38	1	1063	1	CEACAM16	19	45211237	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	75	45211237	13917746	980	12594											
BCL3	602	broad.mit.edu	37	chr19	45260309	45260309	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgatcaccacattaccGtctgtggtccggctcctggt	5	12	11	13	2	2	1	1	1	1	0	4	1	4	1	4	3	1	2	4	3	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:45260309G>A	ENST00000164227.5	+	4	799	c.555G>A	c.(553-555)ccG>ccA	p.P185P		NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3	185					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus	Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm	protein binding, bridging|transcription factor binding			kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				CCACATTACCGTCTGTGGTCC	0.667			T	IGH@	CLL								5	21					0	0	1	0	0	A	45260309	G	A	45260309	2	1	242	1	0	0	0	0	0	0	0	1	1373	1132	40	1		1	BCL3	19	45260309	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	49072	45260309	13868674	981	12595											
OPA3	80207	broad.mit.edu	37	chr19	46056805	46056805	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaggcactgcgtgggaagcGgaccggccgggattgcagag	8	4	19	10	4	0	1	0	0	0	1	0	4	0	4	2	5	3	3	2	5	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:46056805G>A	ENST00000263275.4	-	2	561	c.507C>T	c.(505-507)tcC>tcT	p.S169S	OPA3_ENST00000544371.1_Silent_p.S116S|OPA3_ENST00000323060.3_Intron	NM_025136.3	NP_079412.1	Q9H6K4	OPA3_HUMAN	optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)	169					response to stimulus|visual perception	mitochondrion				cervix(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)		CGTGGGAAGCGGACCGGCCGG	0.642													7	124					0	0	1	0	0	A	46056805	G	A	46056805	2	1	242	1	0	0	0	0	0	0	0	1	10920	1103	39	1		1	OPA3	19	46056805	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	796496	46056805	13072178	982	12596											
FBXO46	23403	broad.mit.edu	37	chr19	46215483	46215483	+	Frame_Shift_Del	DEL	G	G	-																															cagtggccggggagtcggccGggggtggctccgggggcccg																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:46215483delG	ENST00000317683.3	-	2	1404	c.1271delC	c.(1270-1272)cgfs	p.P424fs		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	424							protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		GGAGTCGGCCGGGGGTGGCTC	0.726													21	35	---	---	---	---						-	46215483	G	-	46215483	7	5	242	1	0	1	0	1	0	0	0	0	5788	1116	39	0	544	0	FBXO46	19	46215483	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	158678	46215483	12913500	983	12597											
SIX5	147912	broad.mit.edu	37	chr19	46269107	46269107	+	Frame_Shift_Del	DEL	G	G	-																															ctggaggtggtggcagcggcGgggggtggctgctgtgcaga																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:46269107delG	ENST00000317578.6	-	3	2253	c.1872delC	c.(1870-1872)ccfs	p.P624fs	AC074212.5_ENST00000559756.1_RNA|SIX5_ENST00000560168.1_3'UTR	NM_175875.4	NP_787071.2	Q8N196	SIX5_HUMAN	SIX homeobox 5	624						cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)		TGGCAGCGGCGGGGGGTGGCT	0.711													8	31	---	---	---	---						-	46269107	G	-	46269107	7	5	242	1	0	1	0	1	0	0	0	0	14405	1103	39	0	351	0	SIX5	19	46269107	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	53624	46269107	12859876	984	12598											
DMWD	1762	broad.mit.edu	37	chr19	46289388	46289388	+	Frame_Shift_Del	DEL	G	G	-																															gagggtgcgggtgcgggccaGgggggggtgcgggtagagca																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:46289388delG	ENST00000270223.6	-	3	1411	c.1366delC	c.(1366-1368)tgfs	p.L456fs	DMWD_ENST00000377735.3_Frame_Shift_Del_p.L456fs	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	456					meiosis					central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		GTGCGGGCCAGGGGGGGGTGC	0.711													6	13	---	---	---	---						-	46289388	G	-	46289388	7	5	242	1	0	1	0	1	0	0	0	0	4621	991	35	0	670	0	DMWD	19	46289388	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	20281	46289388	12839595	985	12599											
MYPOP	339344	broad.mit.edu	37	chr19	46404622	46404622	+	Frame_Shift_Del	DEL	G	G	-																															gctgtgaagagggggccgcaGggggctcctccgccccagca																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:46404622delG	ENST00000322217.5	-	2	496	c.410delC	c.(409-411)ctfs	p.P137fs		NM_001012643.2	NP_001012661.1	Q86VE0	MYPOP_HUMAN	Myb-related transcription factor, partner of profilin	137	Pro-rich.					nucleus	DNA binding			large_intestine(2)|lung(1)|skin(1)	4						GGGGGCCGCAGGGGGCTCCTC	0.706													2	4	---	---	---	---						-	46404622	G	-	46404622	7	5	242	1	0	1	0	1	0	0	0	0	10147	1000	35	0	797	0	MYPOP	19	46404622	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	115234	46404622	12724361	986	12600											
LIG1	3978	broad.mit.edu	37	chr19	48620981	48620981	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctggggtccagccagtggtCgggaatcacagcgccatcta	8	7	14	12	2	2	0	1	0	1	0	4	1	3	1	3	4	2	1	3	4	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:48620981C>T	ENST00000263274.7	-	26	2916	c.2497G>A	c.(2497-2499)Gac>Aac	p.D833N	LIG1_ENST00000427526.2_Missense_Mutation_p.D802N|LIG1_ENST00000536218.1_Missense_Mutation_p.D765N	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	833					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	AGCCAGTGGTCGGGAATCACA	0.642								Nucleotide excision repair (NER)					10	28					0	0	1	0	0	T	48620981	C	T	48620981	3	4	242	1	0	0	0	0	1	0	0	0	8821	884	31	1	274	1	LIG1	19	48620981	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	2216359	48620981	10508002	987	12601											
LIG1	3978	broad.mit.edu	37	chr19	48626217	48626217	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagttgtgcgatctcttggCgatctcgtaggtggcatcaa	7	12	12	10	3	3	0	1	0	2	0	5	2	3	0	1	3	1	3	1	3	2	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:48626217C>T	ENST00000263274.7	-	23	2625	c.2206G>A	c.(2206-2208)Gcc>Acc	p.A736T	CTC-453G23.5_ENST00000596563.1_RNA|CTC-453G23.5_ENST00000596839.1_RNA|LIG1_ENST00000427526.2_Missense_Mutation_p.A705T|LIG1_ENST00000536218.1_Missense_Mutation_p.A668T	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	736					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	GATCTCTTGGCGATCTCGTAG	0.597								Nucleotide excision repair (NER)					40	124					0	0	1	0	0	T	48626217	C	T	48626217	3	4	242	1	0	0	0	0	1	0	0	0	8821	768	27	1	577	1	LIG1	19	48626217	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	5236	48626217	10502766	988	12602											
LMTK3	114783	broad.mit.edu	37	chr19	49000732	49000732	+	Frame_Shift_Del	DEL	G	G	-																															gggcccttcctctcgggcttGggggggtccccgtctccgct																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:49000732delG	ENST00000600059.1	-	11	3821	c.3594delC	c.(3592-3594)ccfs	p.P1198fs	LMTK3_ENST00000270238.3_Frame_Shift_Del_p.P1227fs					lemur tyrosine kinase 3											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		TCTCGGGCTTGGGGGGGTCCC	0.711													18	59	---	---	---	---						-	49000732	G	-	49000732	7	5	242	1	0	1	0	1	0	0	0	0	8901	1335	47	0	808	0	LMTK3	19	49000732	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	374515	49000732	10128251	989	12603											
PLEKHA4	0	broad.mit.edu	37	chr19	49363681	49363681	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtcttctaaggtgtcagcGgccaaaacgtaggtcctcat	10	10	11	10	2	4	0	2	0	2	0	5	0	5	0	2	4	2	1	2	4	4	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:49363681G>A	ENST00000263265.6	-	6	957	c.402C>T	c.(400-402)gcC>gcT	p.A134A	PLEKHA4_ENST00000355496.5_Silent_p.A134A	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	134	PH.					cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		AGGTGTCAGCGGCCAAAACGT	0.652													30	76					0	0	1	0	0	A	49363681	G	A	49363681	2	1	242	1	0	0	0	0	0	0	0	1	12106	1103	39	1		1	PLEKHA4	19	49363681	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	362949	49363681	9765302	990	12604											
DKKL1	27120	broad.mit.edu	37	chr19	49878142	49878142	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcagcgagaagcgacacCgcctgcaggccatccgggat	9	4	14	14	4	1	1	1	0	0	1	2	4	2	2	4	3	3	2	4	3	1	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:49878142C>T	ENST00000221498.2	+	5	991	c.586C>T	c.(586-588)Cgc>Tgc	p.R196C	AC010524.2_ENST00000599433.1_RNA|DKKL1_ENST00000594268.1_Missense_Mutation_p.R54C	NM_014419.3	NP_055234.1	Q9UK85	DKKL1_HUMAN	dickkopf-like 1	196					anatomical structure morphogenesis	extracellular space	protein binding|signal transducer activity			large_intestine(2)|upper_aerodigestive_tract(1)	3		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456)		GAAGCGACACCGCCTGCAGGC	0.662													13	37					0	0	1	0	0	T	49878142	C	T	49878142	3	4	242	1	0	0	0	0	1	0	0	0	4576	652	23	1	604	1	DKKL1	19	49878142	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	514461	49878142	9250841	991	12605											
POLD1	5424	broad.mit.edu	37	chr19	50905529	50905529	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accgtggcgctgccgcgcctCgtggccccggcccgccgtct	1	6	14	20	8	1	0	0	0	1	0	2	0	1	0	7	3	1	1	7	3	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:50905529C>T	ENST00000440232.2	+	6	710	c.657C>T	c.(655-657)ctC>ctT	p.L219L	POLD1_ENST00000595904.1_Silent_p.L219L|POLD1_ENST00000599857.1_Silent_p.L219L	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	219					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		TGCCGCGCCTCGTGGCCCCGG	0.687								DNA polymerases (catalytic subunits)					9	71					0	0	1	0	0	T	50905529	C	T	50905529	2	4	242	1	0	0	0	0	0	0	0	1	12238	871	31	1		1	POLD1	19	50905529	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1027387	50905529	8223454	992	12606											
MYBPC2	4606	broad.mit.edu	37	chr19	50944328	50944328	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaggtcgaggtcaagaagaGtgcaggtcagccctggtctg	10	8	15	8	1	3	2	2	0	1	2	4	3	3	2	1	4	2	1	1	4	3	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:50944328G>A	ENST00000357701.5	+	8	815	c.764G>A	c.(763-765)aGt>aAt	p.S255N		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	255	Ig-like C2-type 2.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GTCAAGAAGAGTGCAGGTCAG	0.567													5	6					0	0	1	0	0	A	50944328	G	A	50944328	3	1	242	1	0	0	0	0	1	0	0	0	10060	1029	36	2	794	2	MYBPC2	19	50944328	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	38799	50944328	8184655	993	12607											
KLK8	11202	broad.mit.edu	37	chr19	51501092	51501093	+	Frame_Shift_Ins	INS	-	-	G																															agcatcctcacacttcttctINSggggaaagatttttacttct																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:51501092_51501093insG	ENST00000600767.1	-	6	1030_1031	c.541_542insC	c.(541-543)gaafs	p.E181fs	CTB-147C22.9_ENST00000594512.1_RNA|KLK8_ENST00000598195.1_5'UTR|KLK8_ENST00000593490.1_Intron|KLK8_ENST00000320838.5_Intron|KLK8_ENST00000391806.2_Frame_Shift_Ins_p.E226fs|KLK8_ENST00000291726.7_Frame_Shift_Ins_p.E181fs|KLK8_ENST00000347619.4_Frame_Shift_Ins_p.E40fs			O60259	KLK8_HUMAN	kallikrein-related peptidase 8	181	Peptidase S1.				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		ACACTTCTTCTGGGGAAAGATT	0.52													33	106	---	---	---	---						G	51501093	-	G	51501092	7	5	242	1	0	1	1	0	0	0	0	0	8453	1580	55	0	248	0	KLK8	19	51501092	Frame_Shift_Ins	INS	-	TCGA-KK-A59V-01A-11D-A29Q-08	556764	51501092	7627891	994	12608											
SIGLEC14	100049587	broad.mit.edu	37	chr19	52147073	52147073	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaggtgctgggagcccagcGgatgctgaacccggcaggtg	8	5	17	11	2	0	1	0	1	0	0	0	3	0	3	2	5	5	3	2	5	1	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:52147073G>A	ENST00000360844.6	-	5	1012	c.971C>T	c.(970-972)cCg>cTg	p.P324L	SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000534261.2_Intron|SIGLEC5_ENST00000222107.4_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	324	Ig-like C2-type 2.				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		GGAGCCCAGCGGATGCTGAAC	0.577													29	64					0	0	1	0	0	A	52147073	G	A	52147073	3	1	242	1	0	0	0	0	1	0	0	0	14364	1116	39	1	231	1	SIGLEC14	19	52147073	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	645981	52147073	6981910	995	12609											
ZNF701	55762	broad.mit.edu	37	chr19	53085961	53085961	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caagagaaaaatctttccaaCgtaatgagagtggcaaagcc	17	7	9	8	1	1	2	0	1	1	2	2	4	2	2	2	1	2	2	2	1	6	2	rs148286783		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:53085961C>T	ENST00000540331.1	+	5	1072	c.847C>T	c.(847-849)Cgt>Tgt	p.R283C	ZNF701_ENST00000391785.3_Missense_Mutation_p.R217C|ZNF701_ENST00000301093.2_Missense_Mutation_p.R283C|CTD-3099C6.7_ENST00000599222.1_RNA	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	217					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		ATCTTTCCAACGTAATGAGAG	0.353													24	48					0	0	1	0	0	T	53085961	C	T	53085961	3	4	242	1	0	0	0	0	1	0	0	0	18161	536	19	1	861	1	ZNF701	19	53085961	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	938888	53085961	6043022	996	12610											
ZNF665	79788	broad.mit.edu	37	chr19	53678733	53678733	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctataattctccaacatgAcgtccctgtacaaagtcttc	11	13	4	13	1	2	1	0	1	2	0	6	1	4	1	3	0	2	1	3	0	5	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:53678733A>G	ENST00000396424.3	-	3	196	c.107T>C	c.(106-108)gTc>gCc	p.V36A	ZNF665_ENST00000600412.1_Intron	NM_024733.3	NP_079009.3	Q9H7R5	ZN665_HUMAN	zinc finger protein 665	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		CTCCAACATGACGTCCCTGTA	0.458													4	140					0	0	1	0	0	G	53678733	A	G	53678733	3	3	242	1	0	0	0	0	1	0	0	0	18130	275	10	3	1937	3	ZNF665	19	53678733	Missense_Mutation	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	592772	53678733	5450250	997	12611											
ZNF765	91661	broad.mit.edu	37	chr19	53911653	53911653	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtggcaagaccttcagtcAgacatattacctaacatgcc	12	10	8	11	0	2	2	2	0	0	2	2	2	2	2	3	1	3	1	3	1	4	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:53911653A>G	ENST00000396408.3	+	4	962	c.845A>G	c.(844-846)cAg>cGg	p.Q282R	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	282					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		ACCTTCAGTCAGACATATTAC	0.413													36	86					0	0	1	0	0	G	53911653	A	G	53911653	3	3	242	1	0	0	0	0	1	0	0	0	18189	188	7	3	855	3	ZNF765	19	53911653	Missense_Mutation	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	232920	53911653	5217330	998	12612											
CNOT3	4849	broad.mit.edu	37	chr19	54646863	54646863	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctccctggccaggtgagattGatcgctgcctcaagaaggtg	8	9	13	11	1	1	3	1	2	0	2	3	4	2	3	3	3	1	1	3	3	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:54646863G>A	ENST00000406403.1	+	2	1637	c.34G>A	c.(34-36)Gat>Aat	p.D12N	CNOT3_ENST00000221232.5_Missense_Mutation_p.D12N|CNOT3_ENST00000358389.3_5'UTR			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	12					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	p.D12H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					AGGTGAGATTGATCGCTGCCT	0.537													61	170					0	0	1	0	0	A	54646863	G	A	54646863	3	1	242	1	0	0	0	0	1	0	0	0	3643	1290	45	2	40	2	CNOT3	19	54646863	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	735210	54646863	4482120	999	12613											
LENG1	79165	broad.mit.edu	37	chr19	54663422	54663422	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtgccagctcttcttgggCaagatattcatggcgtcgta	8	12	11	10	3	3	1	1	0	2	1	4	1	3	1	1	2	2	3	1	2	3	5			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:54663422C>T	ENST00000222224.3	-	1	198	c.12G>A	c.(10-12)ttG>ttA	p.L4L		NM_024316.1	NP_077292.1	Q96BZ8	LENG1_HUMAN	leukocyte receptor cluster (LRC) member 1	4										breast(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)	8	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TCTTCTTGGGCAAGATATTCA	0.627											OREG0003639	type=REGULATORY REGION|Gene=LENG1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	5	15					0	0	1	0	0	T	54663422	C	T	54663422	2	4	242	1	0	0	0	0	0	0	0	1	8762	709	25	2		2	LENG1	19	54663422	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	16559	54663422	4465561	1000	12614											
KIR2DL1	3802	broad.mit.edu	37	chr19	55284917	55284917	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagaggggatgtttaacgAcactttgcgcctcattggag	10	10	13	8	2	1	1	1	0	0	1	1	5	1	3	1	3	2	1	1	3	1	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:55284917A>T	ENST00000336077.6	+	3	243	c.203A>T	c.(202-204)gAc>gTc	p.D68V	KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL3_ENST00000434419.2_Intron|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.D68V|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	68	Ig-like C2-type 1.				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		ATGTTTAACGACACTTTGCGC	0.517													5	127					0	0	1	0	0	T	55284917	A	T	55284917	3	4	242	1	0	0	0	0	1	0	0	0	8359	275	10	5	213	5	KIR2DL1	19	55284917	Missense_Mutation	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	621495	55284917	3844066	1001	12615											
TMEM86B	255043	broad.mit.edu	37	chr19	55738740	55738740	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgccctgggccaggccgcGccacagcatggccatcagga	7	3	13	18	3	1	0	1	0	0	0	1	1	1	1	6	4	1	1	6	4	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:55738740G>A	ENST00000327042.4	-	3	1012	c.490C>T	c.(490-492)Cgc>Tgc	p.R164C	AC010327.2_ENST00000598855.1_Silent_p.A34A	NM_173804.4	NP_776165.3	Q8N661	TM86B_HUMAN	transmembrane protein 86B	164					ether lipid metabolic process	cytoplasmic part|integral to membrane	alkenylglycerophosphocholine hydrolase activity|alkenylglycerophosphoethanolamine hydrolase activity			skin(2)	2			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0443)		GCCAGGCCGCGCCACAGCATG	0.706													7	16					0	0	1	0	0	A	55738740	G	A	55738740	3	1	242	1	0	0	0	0	1	0	0	0	16269	1087	38	1	194	1	TMEM86B	19	55738740	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	453823	55738740	3390243	1002	12616											
SUV420H2	84787	broad.mit.edu	37	chr19	55853590	55853590	+	Frame_Shift_Del	DEL	C	C	-																															ccctctcccccagccctgtgCcccccctgcggcgacagcag																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:55853590delC	ENST00000255613.3	+	3	366	c.118delC	c.(118-120)ccfs	p.P41fs	AC020922.1_ENST00000539076.1_Intron|SUV420H2_ENST00000402499.4_Intron	NM_032701.3	NP_116090.2	Q86Y97	SV422_HUMAN	suppressor of variegation 4-20 homolog 2 (Drosophila)	41					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	4	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CAGCCCTGTGCCCCCCCTGCG	0.716													9	22	---	---	---	---						-	55853590	C	-	55853590	7	5	242	1	0	1	0	1	0	0	0	0	15471	739	26	0	124	0	SUV420H2	19	55853590	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	114850	55853590	3275393	1003	12617											
EPN1	29924	broad.mit.edu	37	chr19	56206666	56206666	+	Frame_Shift_Del	DEL	C	C	-																															ttggcgggggccctggcctgCcccccatgatgcccccgggc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:56206666delC	ENST00000411543.2	+	11	2480	c.1933delC	c.(1933-1935)ccfs	p.P646fs	EPN1_ENST00000270460.6_Frame_Shift_Del_p.P560fs|EPN1_ENST00000085079.7_Frame_Shift_Del_p.P534fs	NM_001130071.1	NP_001123543.1	Q9Y6I3	EPN1_HUMAN	epsin 1	560					endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		CCCTGGCCTGCCCCCCATGAT	0.697													8	9	---	---	---	---						-	56206666	C	-	56206666	7	5	242	1	0	1	0	1	0	0	0	0	5213	739	26	0	2054	0	EPN1	19	56206666	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	353076	56206666	2922317	1004	12618											
NLRP8	126205	broad.mit.edu	37	chr19	56466960	56466961	+	Frame_Shift_Ins	INS	-	-	T																															ccctcgtgacttttcaggaaINSttttttgcggccttgtttta																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:56466960_56466961insT	ENST00000291971.3	+	3	1607_1608	c.1536_1537insT	c.(1534-1539)gattttfs	p.DF512fs	NLRP8_ENST00000590542.1_Frame_Shift_Ins_p.DF512fs	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	512	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CTTTTCAGGAATTTTTTGCGGC	0.465													68	217	---	---	---	---						T	56466961	-	T	56466960	7	5	242	1	0	1	1	0	0	0	0	0	10530	98	4	0	1546	0	NLRP8	19	56466960	Frame_Shift_Ins	INS	-	TCGA-KK-A59V-01A-11D-A29Q-08	260294	56466960	2662023	1005	12619											
ZNF787	126208	broad.mit.edu	37	chr19	56599606	56599606	+	Frame_Shift_Del	DEL	C	C	-																															agatgtgggccggctcctcgCcccccgccgccccgagcccg																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:56599606delC	ENST00000270459.3	-	3	1053	c.935delG	c.(934-936)gcfs	p.G312fs		NM_001002836.2	NP_001002836.2	Q6DD87	ZN787_HUMAN	zinc finger protein 787	312					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		CGGCTCCTCGCCCCCCGCCGC	0.761													6	8	---	---	---	---						-	56599606	C	-	56599606	7	5	242	1	0	1	0	1	0	0	0	0	18208	739	26	0	220	0	ZNF787	19	56599606	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	132646	56599606	2529377	1006	12620											
ZNF549	256051	broad.mit.edu	37	chr19	58048626	58048626	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctgagcagactctttctgCgcaaggagtgtcacaggcca	9	10	11	11	1	4	2	1	1	3	1	4	3	4	3	1	2	2	2	1	2	1	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:58048626C>T	ENST00000376233.3	+	4	435	c.254C>T	c.(253-255)gCg>gTg	p.A85V	ZNF549_ENST00000594943.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000240719.3_Missense_Mutation_p.A72V|ZNF549_ENST00000602149.1_Intron	NM_001199295.1	NP_001186224.1	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	85	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ACTCTTTCTGCGCAAGGAGTG	0.453													22	81					0	0	1	0	0	T	58048626	C	T	58048626	3	4	242	1	0	0	0	0	1	0	0	0	18038	768	27	1	225	1	ZNF549	19	58048626	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1449020	58048626	1080357	1007	12621											
ZNF530	348327	broad.mit.edu	37	chr19	58117717	58117717	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgtagtgaatgtgggaaatCatttagtcgcaaaactcacc	14	11	9	7	1	2	1	2	1	0	0	3	2	2	2	1	1	1	2	1	1	6	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:58117717C>T	ENST00000332854.6	+	3	1044	c.824C>T	c.(823-825)tCa>tTa	p.S275L	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	275					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGTGGGAAATCATTTAGTCGC	0.433													22	49					0	0	1	0	0	T	58117717	C	T	58117717	3	4	242	1	0	0	0	0	1	0	0	0	18028	838	29	2	834	2	ZNF530	19	58117717	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	69091	58117717	1011266	1008	12622											
ZNF551	90233	broad.mit.edu	37	chr19	58198231	58198231	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacggacctactccaacaCgaagccactcccagtggtga	11	5	8	17	2	0	1	0	1	0	0	2	3	2	2	5	2	3	0	5	2	3	1	rs150173912	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr19:58198231C>T	ENST00000282296.5	+	3	773	c.588C>T	c.(586-588)caC>caT	p.H196H	AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000596085.1_Intron|ZNF551_ENST00000356715.4_Silent_p.H180H	NM_001270938.1	NP_001257867.1	Q7Z340	ZN551_HUMAN	zinc finger protein 551	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TACTCCAACACGAAGCCACTC	0.498													14	73					0	0	1	0	0	T	58198231	C	T	58198231	2	4	242	1	0	0	0	0	0	0	0	1	18040	535	19	1		1	ZNF551	19	58198231	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	80514	58198231	930752	1009	12623											
PSMF1	9491	broad.mit.edu	37	chr20	1106142	1106142	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaactgtggtcttcccagcCgggtcccaatgataagaagt	10	10	10	11	1	2	2	1	1	1	1	4	2	4	2	3	2	2	0	3	2	4	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:1106142C>T	ENST00000335877.6	+	2	307	c.129_splice	c.e2-1	p.P44_splice	PSMF1_ENST00000246015.4_Splice_Site_p.P44_splice|PSMF1_ENST00000333082.3_Splice_Site_p.P44_splice|PSMF1_ENST00000381898.4_5'UTR|PSMF1_ENST00000438768.2_Splice_Site_p.P44_splice	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN	proteasome (prosome, macropain) inhibitor subunit 1 (PI31)	44					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome core complex	endopeptidase inhibitor activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						TCTTCCCAGCCGGGTCCCAAT	0.458													15	34					0	0	1	0	0	T	1106142	C	T	1106142	5	4	242	1	0	0	0	0	0	0	1	0	12759	666	23	1	137	1	PSMF1	20	1106142	Splice_Site	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08		1106142	61919378	1010	12624											
C20orf141	128653	broad.mit.edu	37	chr20	2796319	2796319	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacaacttagcctccaggaCgcactgctgctgctgctcat	8	9	10	14	1	1	0	1	0	0	0	2	2	2	2	2	2	6	5	2	2	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:2796319C>T	ENST00000380589.4	+	2	570	c.396C>T	c.(394-396)gaC>gaT	p.D132D	TMEM239_ENST00000380593.4_Intron|C20orf141_ENST00000603872.1_Silent_p.D132D|TMEM239_ENST00000554164.1_Intron	NM_080739.2	NP_542777.1	Q9NUB4	CT141_HUMAN	chromosome 20 open reading frame 141	132	Leu-rich.					integral to membrane				endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	10						GCCTCCAGGACGCACTGCTGC	0.632													22	56					0	0	1	0	0	T	2796319	C	T	2796319	2	4	242	1	0	0	0	0	0	0	0	1	2103	535	19	1		1	C20orf141	20	2796319	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1690177	2796319	60229201	1011	12625											
SIGLEC1	6614	broad.mit.edu	37	chr20	3677446	3677446	+	Frame_Shift_Del	DEL	G	G	-																															gaacaaggccagcaaggccaGggggcggctgtccacagtgc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:3677446delG	ENST00000344754.4	-	10	2469	c.2470delC	c.(2470-2472)tgfs	p.L824fs	SIGLEC1_ENST00000202578.4_Frame_Shift_Del_p.L824fs	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	824	Ig-like C2-type 8.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						AGCAAGGCCAGGGGGCGGCTG	0.637													24	56	---	---	---	---						-	3677446	G	-	3677446	7	5	242	1	0	1	0	1	0	0	0	0	14360	991	35	0	2707	0	SIGLEC1	20	3677446	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	881127	3677446	59348074	1012	12626											
SIGLEC1	6614	broad.mit.edu	37	chr20	3686643	3686643	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaagtccacctctgtgccctCgagaagctccaccggggagg	8	6	13	14	2	1	1	0	0	1	1	4	4	3	2	5	3	2	1	5	3	2	0	rs144297916		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:3686643C>T	ENST00000344754.4	-	3	453	c.454G>A	c.(454-456)Gag>Aag	p.E152K	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.E152K	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	152	Ig-like C2-type 1.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						TCTGTGCCCTCGAGAAGCTCC	0.627													35	72					0	0	1	0	0	T	3686643	C	T	3686643	3	4	242	1	0	0	0	0	1	0	0	0	14360	893	31	1	4751	1	SIGLEC1	20	3686643	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	9197	3686643	59338877	1013	12627											
SMOX	54498	broad.mit.edu	37	chr20	4163076	4163076	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtcggtggtggtggagtGcgaggactgtgagctgatcc	5	10	20	6	2	0	2	0	2	0	0	2	5	1	4	1	6	2	1	1	6	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:4163076G>A	ENST00000305958.4	+	5	1175	c.950G>A	c.(949-951)tGc>tAc	p.C317Y	SMOX_ENST00000339123.6_Intron|SMOX_ENST00000346595.2_Intron|SMOX_ENST00000379460.2_Missense_Mutation_p.C317Y|SMOX_ENST00000278795.3_Intron	NM_175839.1	NP_787033.1	Q9NWM0	SMOX_HUMAN	spermine oxidase	317					polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity			breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	GTGGTGGAGTGCGAGGACTGT	0.642													16	50					0	0	1	0	0	A	4163076	G	A	4163076	3	1	242	1	0	0	0	0	1	0	0	0	14857	1319	46	2	964	2	SMOX	20	4163076	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	476433	4163076	58862444	1014	12628											
PLCB1	23236	broad.mit.edu	37	chr20	8678365	8678365	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctggactgctggaagggaCggactgcagaagaggaacct	12	5	16	8	1	0	2	0	0	0	2	0	7	0	7	1	5	4	3	1	5	3	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:8678365C>T	ENST00000378641.3	+	11	1577	c.1102C>T	c.(1102-1104)Cgg>Tgg	p.R368W	PLCB1_ENST00000338037.6_Missense_Mutation_p.R368W|PLCB1_ENST00000378637.2_Missense_Mutation_p.R368W	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	368	PI-PLC X-box.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CTGGAAGGGACGGACTGCAGA	0.488													46	98					0	0	1	0	0	T	8678365	C	T	8678365	3	4	242	1	0	0	0	0	1	0	0	0	12075	527	19	1	1144	1	PLCB1	20	8678365	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	4515289	8678365	54347155	1015	12629											
KIF16B	55614	broad.mit.edu	37	chr20	16359636	16359636	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccagggcccgctccagcGcctctctctgctgcttctct	2	11	10	18	2	3	0	0	0	3	0	6	0	4	0	4	2	3	3	4	2	0	1	rs147683391		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:16359636G>A	ENST00000354981.2	-	19	3168	c.3011C>T	c.(3010-3012)gCg>gTg	p.A1004V	KIF16B_ENST00000355755.3_Missense_Mutation_p.A1004V|KIF16B_ENST00000378003.2_Missense_Mutation_p.A230V|KIF16B_ENST00000408042.1_Missense_Mutation_p.A1004V	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	1004	Glu-rich.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CCGCTCCAGCGCCTCTCTCTG	0.552													54	121					0	0	1	0	0	A	16359636	G	A	16359636	3	1	242	1	0	0	0	0	1	0	0	0	8320	1087	38	1	974	1	KIF16B	20	16359636	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	7681271	16359636	46665884	1016	12630											
KIF16B	55614	broad.mit.edu	37	chr20	16360535	16360535	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttggagttcttcttggacGcggagaaaggtctcttcttc	6	14	12	9	3	4	1	0	0	4	1	6	4	4	3	0	4	0	2	0	4	1	6			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:16360535G>A	ENST00000354981.2	-	19	2269	c.2112C>T	c.(2110-2112)cgC>cgT	p.R704R	KIF16B_ENST00000355755.3_Silent_p.R704R|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000408042.1_Silent_p.R704R	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	704	Glu-rich.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CTTCTTGGACGCGGAGAAAGG	0.443													10	105					0	0	1	0	0	A	16360535	G	A	16360535	2	1	242	1	0	0	0	0	0	0	0	1	8320	1074	38	1		1	KIF16B	20	16360535	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	899	16360535	46664985	1017	12631											
C20orf26	26074	broad.mit.edu	37	chr20	20232315	20232315	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgtggtgggtagaatgaccGgcatagaccgagcagccaag	11	6	15	9	3	0	3	0	1	0	2	1	4	0	3	3	3	2	3	3	3	4	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:20232315G>A	ENST00000245957.5	+	20	2312	c.2236G>A	c.(2236-2238)Ggc>Agc	p.G746S	C20orf26_ENST00000377309.2_Missense_Mutation_p.G102S|C20orf26_ENST00000389656.3_Missense_Mutation_p.G102S|C20orf26_ENST00000377293.1_Missense_Mutation_p.G102S	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	746										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TAGAATGACCGGCATAGACCG	0.532													40	94					0	0	1	0	0	A	20232315	G	A	20232315	3	1	242	1	0	0	0	0	1	0	0	0	2120	1116	39	1	2342	1	C20orf26	20	20232315	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	3871780	20232315	42793205	1018	12632											
GGTLC1	92086	broad.mit.edu	37	chr20	23966372	23966372	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcagccggggctcctccaCggcccacttcacgtcatagc	6	7	11	17	3	2	0	2	0	0	0	4	0	4	0	4	3	3	2	4	3	1	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:23966372C>T	ENST00000335694.4	-	5	667	c.463G>A	c.(463-465)Gtg>Atg	p.V155M	GGTLC1_ENST00000278765.4_Missense_Mutation_p.V155M|GGTLC1_ENST00000286890.4_Missense_Mutation_p.V155M	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	155							gamma-glutamyltransferase activity	p.V155M(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						GGCTCCTCCACGGCCCACTTC	0.612													17	167					0	0	1	0	0	T	23966372	C	T	23966372	3	4	242	1	0	0	0	0	1	0	0	0	6407	536	19	1	222	1	GGTLC1	20	23966372	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	3734057	23966372	39059148	1019	12633											
NINL	22981	broad.mit.edu	37	chr20	25472047	25472047	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcctgcaggcgccccacGtcccactccagcgcggccct	5	5	10	21	4	1	0	1	0	0	0	3	0	3	0	6	2	3	1	6	2	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:25472047G>A	ENST00000278886.6	-	11	1498	c.1425C>T	c.(1423-1425)gaC>gaT	p.D475D	NINL_ENST00000422516.1_Silent_p.D475D	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	475					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GGCGCCCCACGTCCCACTCCA	0.701													35	67					0	0	1	0	0	A	25472047	G	A	25472047	2	1	242	1	0	0	0	0	0	0	0	1	10467	1136	40	1		1	NINL	20	25472047	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1505675	25472047	37553473	1020	12634											
DNMT3B	1789	broad.mit.edu	37	chr20	31369195	31369195	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgactctccaagagggaggTgtccagtctgctaagctaca	10	8	12	11	1	2	1	0	0	2	1	4	3	3	2	2	2	3	2	2	2	3	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:31369195T>C	ENST00000328111.2	+	3	500	c.179T>C	c.(178-180)gTg>gCg	p.V60A	DNMT3B_ENST00000344505.4_Missense_Mutation_p.V60A|DNMT3B_ENST00000348286.2_Missense_Mutation_p.V60A|DNMT3B_ENST00000353855.2_Missense_Mutation_p.V60A|DNMT3B_ENST00000443239.3_Missense_Mutation_p.V60A|DNMT3B_ENST00000456297.2_Missense_Mutation_p.V60A|DNMT3B_ENST00000375623.4_Missense_Mutation_p.V60A|DNMT3B_ENST00000201963.3_Missense_Mutation_p.V72A	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	60	Interaction with DNMT1 and DNMT3A.				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AAGAGGGAGGTGTCCAGTCTG	0.567													4	58					0	0	1	0	0	C	31369195	T	C	31369195	3	2	242	1	0	0	0	0	1	0	0	0	4704	1696	59	3	225	3	DNMT3B	20	31369195	Missense_Mutation	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	5897148	31369195	31656325	1021	12635											
GGT7	2686	broad.mit.edu	37	chr20	33451235	33451235	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaggagcactcggccgctgCggcggagaacgggtctttgc	6	6	17	12	5	1	1	0	0	1	1	2	3	1	2	1	5	4	3	1	5	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:33451235C>T	ENST00000336431.5	-	2	330	c.286G>A	c.(286-288)Gca>Aca	p.A96T		NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	96					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						TCGGCCGCTGCGGCGGAGAAC	0.672													13	26					0	0	1	0	0	T	33451235	C	T	33451235	3	4	242	1	0	0	0	0	1	0	0	0	6406	768	27	1	1758	1	GGT7	20	33451235	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	2082040	33451235	29574285	1022	12636											
MYH7B	57644	broad.mit.edu	37	chr20	33577720	33577720	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtggtccactacgcaggcGtggtaggtgcttgctggaac	7	9	16	9	2	0	0	0	0	0	0	1	1	1	1	1	6	4	4	1	6	3	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:33577720G>A	ENST00000262873.7	+	18	1983	c.1891G>A	c.(1891-1893)Gtg>Atg	p.V631M		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	589	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CTACGCAGGCGTGGTAGGTGC	0.647													14	33					0	0	1	0	0	A	33577720	G	A	33577720	3	1	242	1	0	0	0	0	1	0	0	0	10088	1145	40	1	1961	1	MYH7B	20	33577720	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	126485	33577720	29447800	1023	12637											
NFS1	9054	broad.mit.edu	37	chr20	34262435	34262435	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaaagagcaagtccataccGggataatggtgcttagggtc	13	8	13	7	1	0	2	0	0	0	2	2	3	1	3	2	3	3	2	2	3	5	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:34262435G>A	ENST00000374092.4	-	9	1123	c.1054_splice	c.e9+1	p.P351_splice	NFS1_ENST00000374085.1_Splice_Site_p.P291_splice|NFS1_ENST00000397425.1_Splice_Site_p.P291_splice|NFS1_ENST00000540053.1_Splice_Site_p.P149_splice|NFS1_ENST00000541387.1_Splice_Site_p.P300_splice	NM_021100.4	NP_066923.3	Q9Y697	NFS1_HUMAN	NFS1 cysteine desulfurase	351					cysteine metabolic process|iron incorporation into metallo-sulfur cluster|Mo-molybdopterin cofactor biosynthetic process|protein complex assembly|water-soluble vitamin metabolic process	cytosol|mitochondrial matrix|nucleus	cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.0886)		L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	AGTCCATACCGGGATAATGGT	0.468													22	73					0	0	1	0	0	A	34262435	G	A	34262435	5	1	242	1	0	0	0	0	0	0	1	0	10432	1130	39	1	340	1	NFS1	20	34262435	Splice_Site	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	684715	34262435	28763085	1024	12638											
MYL9	10398	broad.mit.edu	37	chr20	35176565	35176565	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccgaggatgtgattcgcaaCgcctttgcctgcttcgacga	7	10	11	13	5	0	1	0	1	0	0	2	5	0	2	3	1	3	2	3	1	1	3	rs7273824		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:35176565C>T	ENST00000279022.2	+	3	419	c.315C>T	c.(313-315)aaC>aaT	p.N105N	MYL9_ENST00000346786.2_Intron|RP5-977B1.7_ENST00000439595.1_RNA|RP5-977B1.7_ENST00000425233.1_RNA	NM_006097.4	NP_006088.2	P24844	MYL9_HUMAN	myosin, light chain 9, regulatory	105	EF-hand 2.				axon guidance|muscle contraction|regulation of muscle contraction	cytosol|muscle myosin complex	calcium ion binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)	8	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				TGATTCGCAACGCCTTTGCCT	0.617													11	35					0	0	1	0	0	T	35176565	C	T	35176565	2	4	242	1	0	0	0	0	0	0	0	1	10102	535	19	1		1	MYL9	20	35176565	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	914130	35176565	27848955	1025	12639											
KIAA1755	85449	broad.mit.edu	37	chr20	36841555	36841555	+	Frame_Shift_Del	DEL	G	G	-																															cgagggacctggctctgcctGgggggctgctgccggaagaa																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:36841555delG	ENST00000279024.4	-	14	3763	c.3492delC	c.(3490-3492)ccfs	p.P1164fs		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	1164										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GGCTCTGCCTGGGGGGCTGCT	0.642													24	70	---	---	---	---						-	36841555	G	-	36841555	7	5	242	1	0	1	0	1	0	0	0	0	8299	1335	47	0	114	0	KIAA1755	20	36841555	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	1664990	36841555	26183965	1026	12640											
PLCG1	5335	broad.mit.edu	37	chr20	39796522	39796522	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggggccctgtatgagggaCgcaaccctggcttctatgta	8	9	13	11	2	1	1	0	1	1	0	1	2	1	2	2	4	1	4	2	4	4	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:39796522C>T	ENST00000373272.2	+	20	2737	c.2332C>T	c.(2332-2334)Cgc>Tgc	p.R778C	PLCG1_ENST00000373271.1_Missense_Mutation_p.R778C|PLCG1_ENST00000244007.3_Missense_Mutation_p.R778C	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	778					activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				GTATGAGGGACGCAACCCTGG	0.552													7	25					0	0	1	0	0	T	39796522	C	T	39796522	3	4	242	1	0	0	0	0	1	0	0	0	12083	536	19	1	2410	1	PLCG1	20	39796522	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	2954967	39796522	23228998	1027	12641											
JPH2	57158	broad.mit.edu	37	chr20	42788369	42788369	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctcttgagctgcagcatgCggcgcttggtgtccttgacc	4	12	13	12	2	1	2	0	2	1	0	2	2	2	2	2	2	5	5	2	2	0	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:42788369C>T	ENST00000372980.3	-	2	1930	c.1058G>A	c.(1057-1059)cGc>cAc	p.R353H		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	353					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CTGCAGCATGCGGCGCTTGGT	0.657													4	39					0	0	1	0	0	T	42788369	C	T	42788369	3	4	242	1	0	0	0	0	1	0	0	0	8005	768	27	1	1048	1	JPH2	20	42788369	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	2991847	42788369	20237151	1028	12642											
STK4	6789	broad.mit.edu	37	chr20	43623811	43623811	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attcaggaaattggatacaaCtgtgtagcagacatctggtc	13	11	10	7	0	2	1	1	0	1	1	3	3	2	3	0	3	3	2	0	3	4	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:43623811C>A	ENST00000372806.3	+	6	701	c.606C>A	c.(604-606)aaC>aaA	p.N202K	STK4_ENST00000372801.1_Missense_Mutation_p.N202K|STK4_ENST00000499879.2_Missense_Mutation_p.N147K|STK4_ENST00000396731.4_Missense_Mutation_p.N202K	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN	serine/threonine kinase 4	202	Protein kinase.				apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				TTGGATACAACTGTGTAGCAG	0.448													38	81					2.09667e-21	2.20252e-21	1	1	0	A	43623811	C	A	43623811	3	1	242	1	0	0	0	0	1	0	0	0	15362	564	20	4	628	4	STK4	20	43623811	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	835442	43623811	19401709	1029	12643											
EYA2	2139	broad.mit.edu	37	chr20	45633591	45633591	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccacacagatcttgcccaCgtgtcctcccccgccagcct	6	9	6	20	2	1	1	0	0	1	1	4	1	4	1	7	0	2	0	7	0	0	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:45633591C>T	ENST00000327619.5	+	4	540	c.166C>T	c.(166-168)Cgt>Tgt	p.R56C	EYA2_ENST00000357410.3_Missense_Mutation_p.R56C|EYA2_ENST00000317304.6_Missense_Mutation_p.R56C	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	56					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				ATCTTGCCCACGTGTCCTCCC	0.562													18	86					0	0	1	0	0	T	45633591	C	T	45633591	3	4	242	1	0	0	0	0	1	0	0	0	5357	536	19	1	176	1	EYA2	20	45633591	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	2009780	45633591	17391929	1030	12644											
PTPN1	5770	broad.mit.edu	37	chr20	49195732	49195732	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaggaaagacccttcttccGttgatatcaagaaagtgctg	13	10	10	8	1	2	4	1	1	1	3	3	5	3	5	2	1	1	2	2	1	4	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:49195732G>A	ENST00000371621.3	+	7	904	c.730G>A	c.(730-732)Gtt>Att	p.V244I	PTPN1_ENST00000541713.1_Missense_Mutation_p.V171I	NM_001278618.1|NM_002827.2	NP_001265547.1|NP_002818.1	P18031	PTN1_HUMAN	protein tyrosine phosphatase, non-receptor type 1	244	Tyrosine-protein phosphatase.				blood coagulation|interferon-gamma-mediated signaling pathway|negative regulation of insulin receptor signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol|endoplasmic reticulum membrane	protein tyrosine phosphatase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2)	16		Lung NSC(126;0.163)			Clodronate(DB00720)|Tiludronate(DB01133)	CCCTTCTTCCGTTGATATCAA	0.488													52	189					0	0	1	0	0	A	49195732	G	A	49195732	3	1	242	1	0	0	0	0	1	0	0	0	12829	1145	40	1	756	1	PTPN1	20	49195732	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	3562141	49195732	13829788	1031	12645											
NFATC2	4773	broad.mit.edu	37	chr20	50048649	50048649	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctgctcctgtttaatggTcacccccgcaggtaatactt	7	14	8	12	1	2	0	1	0	1	0	3	0	3	0	3	2	2	5	3	2	3	6			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:50048649T>C	ENST00000371564.3	-	9	2896	c.2677A>G	c.(2677-2679)Acc>Gcc	p.T893A	NFATC2_ENST00000396009.3_Missense_Mutation_p.T893A|NFATC2_ENST00000414705.1_Missense_Mutation_p.T873A	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	893					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					TGTTTAATGGTCACCCCCGCA	0.522													7	213					0	0	1	0	0	C	50048649	T	C	50048649	3	2	242	1	0	0	0	0	1	0	0	0	10409	1667	58	3	156	3	NFATC2	20	50048649	Missense_Mutation	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	852917	50048649	12976871	1032	12646											
ATP9A	10079	broad.mit.edu	37	chr20	50235572	50235572	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcgaggtgagcctccccgCggttggtcacctggaaggga	6	7	16	12	3	1	1	1	1	0	0	3	4	2	3	4	5	1	2	4	5	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:50235572C>T	ENST00000338821.5	-	20	2390	c.2126G>A	c.(2125-2127)cGc>cAc	p.R709H	ATP9A_ENST00000311637.5_Missense_Mutation_p.R573H|ATP9A_ENST00000402822.1_Missense_Mutation_p.R588H	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	709					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						AGCCTCCCCGCGGTTGGTCAC	0.587													16	35					0	0	1	0	0	T	50235572	C	T	50235572	3	4	242	1	0	0	0	0	1	0	0	0	1196	768	27	1	1053	1	ATP9A	20	50235572	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	186923	50235572	12789948	1033	12647											
SALL4	57167	broad.mit.edu	37	chr20	50408260	50408260	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccaaggtcttcagagtgtcGgcccctgccccgcttgagtg	5	9	12	15	2	2	2	1	1	1	1	3	2	2	2	5	2	1	1	5	2	1	2	rs141546409	byFrequency	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:50408260G>A	ENST00000217086.4	-	2	873	c.762C>T	c.(760-762)gcC>gcT	p.A254A	SALL4_ENST00000395997.3_Silent_p.A254A|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	254					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCAGAGTGTCGGCCCCTGCCC	0.602													19	48					0	0	1	0	0	A	50408260	G	A	50408260	2	1	242	1	0	0	0	0	0	0	0	1	13865	1103	39	1		1	SALL4	20	50408260	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	172688	50408260	12617260	1034	12648											
BMP7	655	broad.mit.edu	37	chr20	55758849	55758849	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggttctggctgcgctgtttgCtccccgtggaccggatgctg	2	12	15	12	3	1	0	0	0	1	0	2	2	2	2	3	4	3	6	3	4	0	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:55758849C>T	ENST00000395863.3	-	4	1392	c.887G>A	c.(886-888)aGc>aAc	p.S296N	BMP7_ENST00000450594.2_Missense_Mutation_p.S296N|BMP7_ENST00000395864.3_Intron|BMP7_ENST00000460817.1_5'UTR	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	296					BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			GCGCTGTTTGCTCCCCGTGGA	0.632													25	94					0	0	1	0	0	T	55758849	C	T	55758849	3	4	242	1	0	0	0	0	1	0	0	0	1464	797	28	2	424	2	BMP7	20	55758849	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	5350589	55758849	7266671	1035	12649											
ZNF831	128611	broad.mit.edu	37	chr20	57768008	57768008	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tccccatggaggcaagaaagCcagggaggtgggaatgggca	12	4	17	8	0	0	1	0	0	0	1	1	4	1	4	3	6	1	2	3	6	3	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:57768008C>T	ENST00000371030.2	+	1	1934	c.1934C>T	c.(1933-1935)gCc>gTc	p.A645V		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	645						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGCAAGAAAGCCAGGGAGGTG	0.567													36	85					0	0	1	0	0	T	57768008	C	T	57768008	3	4	242	1	0	0	0	0	1	0	0	0	18232	739	26	2	1936	2	ZNF831	20	57768008	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	2009159	57768008	5257512	1036	12650											
SS18L1	26039	broad.mit.edu	37	chr20	60749651	60749651	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacggaagctaccgagcacCgcagacagcgccgtctgccc	9	4	12	16	5	1	1	0	0	1	1	1	3	1	2	4	1	6	4	4	1	3	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:60749651C>T	ENST00000331758.3	+	10	1141	c.1115C>T	c.(1114-1116)cCg>cTg	p.P372L	SS18L1_ENST00000370848.4_Missense_Mutation_p.P375L|SS18L1_ENST00000421564.1_Missense_Mutation_p.P372L	NM_198935.1	NP_945173.1	O75177	CREST_HUMAN	synovial sarcoma translocation gene on chromosome 18-like 1	372	Gln-rich.|Necessary for nuclear localization (By similarity).				chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome kinetochore			SS18L1/SSX1(2)	ovary(2)|skin(1)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.92e-08)			TACCGAGCACCGCAGACAGCG	0.637			T	SSX1	synovial sarcoma								4	193					0	0	1	0	0	T	60749651	C	T	60749651	3	4	242	1	0	0	0	0	1	0	0	0	15232	652	23	1	1153	1	SS18L1	20	60749651	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	2981643	60749651	2275869	1037	12651											
DIDO1	11083	broad.mit.edu	37	chr20	61510982	61510982	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcctcctgtcctcggacGcccggccctgggcgtcgggc	1	8	13	19	5	1	0	0	0	1	0	6	1	3	1	5	4	0	0	5	4	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:61510982G>A	ENST00000266070.4	-	16	6651	c.6326C>T	c.(6325-6327)gCg>gTg	p.A2109V	DIDO1_ENST00000395343.1_Missense_Mutation_p.A2109V	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	2109	Arg-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GTCCTCGGACGCCCGGCCCTG	0.677													89	225					0	0	1	0	0	A	61510982	G	A	61510982	3	1	242	1	0	0	0	0	1	0	0	0	4550	1087	38	1	400	1	DIDO1	20	61510982	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	761331	61510982	1514538	1038	12652											
SAMD10	140700	broad.mit.edu	37	chr20	62607080	62607080	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggctccgcccctcctcaCgcacctgcaggcggagcacc	6	4	11	20	3	1	0	1	0	0	0	3	1	3	1	6	3	2	5	6	3	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr20:62607080C>T	ENST00000369886.3	-	4	725	c.551G>A	c.(550-552)cGt>cAt	p.R184H	ZNF512B_ENST00000217130.3_Intron|ZNF512B_ENST00000450537.1_Intron|SAMD10_ENST00000498830.1_5'UTR	NM_080621.4	NP_542188.1	Q9BYL1	SAM10_HUMAN	sterile alpha motif domain containing 10	184	SAM.									kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	7	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CCCCTCCTCACGCACCTGCAG	0.682													50	99					0	0	1	0	0	T	62607080	C	T	62607080	3	4	242	1	0	0	0	0	1	0	0	0	13867	536	19	1	65	1	SAMD10	20	62607080	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1096098	62607080	418440	1039	12653											
KRTAP26-1	388818	broad.mit.edu	37	chr21	31692135	31692135	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagaggtttcaagattgccGgtctcacagtggaccggctg	9	9	13	10	2	2	2	2	0	1	2	3	3	2	3	2	4	1	2	2	4	2	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr21:31692135G>A	ENST00000360542.3	-	1	472	c.219C>T	c.(217-219)acC>acT	p.T73T		NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	73						intermediate filament				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						CAAGATTGCCGGTCTCACAGT	0.532													67	151					0	0	1	0	0	A	31692135	G	A	31692135	2	1	242	1	0	0	0	0	0	0	0	1	8587	1103	39	1		1	KRTAP26-1	21	31692135	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08		31692135	16437760	1040	12654											
ITSN1	6453	broad.mit.edu	37	chr21	35122567	35122567	+	Frame_Shift_Del	DEL	C	C	-																															ctgttcccacagcagctgtgCcccccctggctaacggggct																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr21:35122567delC	ENST00000381318.3	+	6	754	c.466delC	c.(466-468)ccfs	p.P157fs	AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399353.1_Frame_Shift_Del_p.P120fs|ITSN1_ENST00000381285.4_Frame_Shift_Del_p.P157fs|ITSN1_ENST00000381291.4_Frame_Shift_Del_p.P157fs|ITSN1_ENST00000399367.3_Frame_Shift_Del_p.P157fs|ITSN1_ENST00000399349.1_Frame_Shift_Del_p.P157fs|ITSN1_ENST00000399355.2_Frame_Shift_Del_p.P157fs|ITSN1_ENST00000399326.3_Frame_Shift_Del_p.P157fs|ITSN1_ENST00000399352.1_Frame_Shift_Del_p.P157fs|ITSN1_ENST00000437442.2_Frame_Shift_Del_p.P157fs|ITSN1_ENST00000379960.5_Frame_Shift_Del_p.P157fs|ITSN1_ENST00000399338.4_Frame_Shift_Del_p.P157fs	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	157					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						AGCAGCTGTGCCCCCCCTGGC	0.522													14	79	---	---	---	---						-	35122567	C	-	35122567	7	5	242	1	0	1	0	1	0	0	0	0	7970	739	26	0	484	0	ITSN1	21	35122567	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	3430432	35122567	13007328	1041	12655											
KCNE2	0	broad.mit.edu	37	chr21	35743007	35743007	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactgtgaaatccaagagacGggaacactccaatgacccct	14	6	8	13	1	0	3	0	2	0	1	2	5	2	4	4	1	1	0	4	1	4	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr21:35743007G>A	ENST00000290310.2	+	2	370	c.230G>A	c.(229-231)cGg>cAg	p.R77Q		NM_172201.1	NP_751951.1	Q9Y6J6	KCNE2_HUMAN	potassium voltage-gated channel, Isk-related family, member 2	77			R -> W (in LQT6).		blood circulation|muscle contraction|regulation of heart contraction	lysosome|voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(1)|large_intestine(1)	2						TCCAAGAGACGGGAACACTCC	0.463													17	43					0	0	1	0	0	A	35743007	G	A	35743007	3	1	242	1	0	0	0	0	1	0	0	0	8067	1116	39	1	232	1	KCNE2	21	35743007	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	620440	35743007	12386888	1042	12656											
DOPEY2	9980	broad.mit.edu	37	chr21	37609603	37609603	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagctgaacaaagagacccGggagcatcacgtcacctgcg	12	5	11	13	3	3	2	3	1	0	1	3	4	3	3	2	1	4	2	2	1	2	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr21:37609603G>A	ENST00000399151.3	+	16	2751	c.2666G>A	c.(2665-2667)cGg>cAg	p.R889Q		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	889					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						AAAGAGACCCGGGAGCATCAC	0.592													6	89					0	0	1	0	0	A	37609603	G	A	37609603	3	1	242	1	0	0	0	0	1	0	0	0	4735	1116	39	1	2724	1	DOPEY2	21	37609603	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1866596	37609603	10520292	1043	12657											
TTC3	7267	broad.mit.edu	37	chr21	38460555	38460555	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtcctgcaagattattgcGatgccattaaaataaacatc	14	12	6	9	1	0	1	0	0	0	1	2	2	1	1	2	0	4	1	2	0	6	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr21:38460555G>A	ENST00000399017.2	+	4	2994	c.247G>A	c.(247-249)Gat>Aat	p.D83N	TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000540756.1_Intron|TTC3_ENST00000399010.1_Missense_Mutation_p.D83N|TTC3_ENST00000354749.2_Missense_Mutation_p.D83N|TTC3_ENST00000355666.1_Missense_Mutation_p.D83N	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	83					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				AGATTATTGCGATGCCATTAA	0.348													26	49					0	0	1	0	0	A	38460555	G	A	38460555	3	1	242	1	0	0	0	0	1	0	0	0	16759	1058	37	1	257	1	TTC3	21	38460555	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	850952	38460555	9669340	1044	12658											
KCNJ6	3763	broad.mit.edu	37	chr21	39087429	39087429	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggagtcgccctccaggaCgttagctggtggtttggaga	7	10	15	9	2	0	1	0	0	0	1	2	4	1	3	2	5	1	3	2	5	1	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr21:39087429C>T	ENST00000400482.3	-	3	620	c.31G>A	c.(31-33)Gtc>Atc	p.V11I	KCNJ6_ENST00000288309.6_Missense_Mutation_p.V11I	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	11					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	CCCTCCAGGACGTTAGCTGGT	0.517													8	29					0	0	1	0	0	T	39087429	C	T	39087429	3	4	242	1	0	0	0	0	1	0	0	0	8099	536	19	1	1248	1	KCNJ6	21	39087429	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	626874	39087429	9042466	1045	12659											
ETS2	2114	broad.mit.edu	37	chr21	40193595	40193595	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatcagctggactggagaCggatgggagtttaagctcgc	9	10	14	8	2	2	1	2	0	0	1	3	5	2	4	0	4	2	3	0	4	1	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr21:40193595C>T	ENST00000360214.3	+	10	1621	c.1161C>T	c.(1159-1161)gaC>gaT	p.D387D	ETS2_ENST00000360938.3_Silent_p.D387D	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	387					positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				GGACTGGAGACGGATGGGAGT	0.532													40	90					0	0	1	0	0	T	40193595	C	T	40193595	2	4	242	1	0	0	0	0	0	0	0	1	5304	535	19	1		1	ETS2	21	40193595	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1106166	40193595	7936300	1046	12660											
BRWD1	54014	broad.mit.edu	37	chr21	40571323	40571324	+	Frame_Shift_Ins	INS	-	-	T																															cttcagaattatgtaataacINSttttttctagctacagcaga																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr21:40571323_40571324insT	ENST00000342449.3	-	40	5096_5097	c.5018_5019insA	c.(5017-5019)attfs	p.I1673fs	BRWD1_ENST00000333229.2_Frame_Shift_Ins_p.I1673fs|BRWD1_ENST00000380800.3_Frame_Shift_Ins_p.I1673fs	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1673					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TATGTAATAACTTTTTTCTAGC	0.381													7	72	---	---	---	---						T	40571324	-	T	40571323	7	5	242	1	0	1	1	0	0	0	0	0	1527	564	20	0	2194	0	BRWD1	21	40571323	Frame_Shift_Ins	INS	-	TCGA-KK-A59V-01A-11D-A29Q-08	377728	40571323	7558572	1047	12661											
UMODL1	89766	broad.mit.edu	37	chr21	43504322	43504322	+	Frame_Shift_Del	DEL	G	G	-																															agaagtgctgcccctggtcaGgggggcgctactgcatggcc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr21:43504322delG	ENST00000400427.1	+	3	628	c.232delG	c.(232-234)ggfs	p.G79fs	UMODL1_ENST00000400424.1_Frame_Shift_Del_p.G79fs|UMODL1_ENST00000408989.2_Frame_Shift_Del_p.G151fs|UMODL1_ENST00000408910.2_Frame_Shift_Del_p.G151fs	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	151	EMI.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CCCCTGGTCAGGGGGGCGCTA	0.652													32	123	---	---	---	---						-	43504322	G	-	43504322	7	5	242	1	0	1	0	1	0	0	0	0	17040	1000	35	0	458	0	UMODL1	21	43504322	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	2932999	43504322	4625573	1048	12662											
ABCG1	9619	broad.mit.edu	37	chr21	43693446	43693446	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagggggccgtcctcatcaaCggcctgccccgggacctgcg	6	5	14	16	4	2	0	2	0	0	0	3	1	3	1	6	4	3	0	6	4	2	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr21:43693446C>T	ENST00000398437.1	+	5	1024	c.876C>T	c.(874-876)aaC>aaT	p.N292N	ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000340588.4_Silent_p.N254N|ABCG1_ENST00000398457.2_Silent_p.N148N|ABCG1_ENST00000343687.3_Silent_p.N157N|ABCG1_ENST00000347800.2_Silent_p.N143N|ABCG1_ENST00000398449.3_Silent_p.N146N|ABCG1_ENST00000361802.2_Silent_p.N146N			P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	146	ABC transporter.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	TCCTCATCAACGGCCTGCCCC	0.652													6	129					0	0	1	0	0	T	43693446	C	T	43693446	2	4	242	1	0	0	0	0	0	0	0	1	68	535	19	1		1	ABCG1	21	43693446	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	189124	43693446	4436449	1049	12663											
TRPM2	7226	broad.mit.edu	37	chr21	45786686	45786686	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgtgatctaccacctcaTgacccagcactgggggctgg	8	7	12	14	1	2	2	1	2	1	0	2	2	2	2	3	3	3	2	3	3	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr21:45786686T>C	ENST00000397928.1	+	4	918	c.473T>C	c.(472-474)aTg>aCg	p.M158T	TRPM2_ENST00000300482.5_Missense_Mutation_p.M158T|TRPM2_ENST00000300481.9_Missense_Mutation_p.M158T|TRPM2_ENST00000397932.2_Missense_Mutation_p.M158T	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	158						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TACCACCTCATGACCCAGCAC	0.607													4	92					0	0	1	0	0	C	45786686	T	C	45786686	3	2	242	1	0	0	0	0	1	0	0	0	16647	1464	51	3	487	3	TRPM2	21	45786686	Missense_Mutation	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	2093240	45786686	2343209	1050	12664											
TRPM2	7226	broad.mit.edu	37	chr21	45802622	45802622	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaagatatcgtccggaggCggcagctgctgactgtcttc	7	10	12	12	3	1	2	0	1	1	1	5	3	3	3	2	3	2	3	2	3	2	2	rs146431153	by1000genomes	TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr21:45802622C>T	ENST00000397928.1	+	9	1682	c.1237C>T	c.(1237-1239)Cgg>Tgg	p.R413W	TRPM2_ENST00000300482.5_Missense_Mutation_p.R413W|TRPM2_ENST00000300481.9_Missense_Mutation_p.R413W|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000397932.2_Missense_Mutation_p.R413W	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	413						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CGTCCGGAGGCGGCAGCTGCT	0.552													13	20					0	0	1	0	0	T	45802622	C	T	45802622	3	4	242	1	0	0	0	0	1	0	0	0	16647	759	27	1	1271	1	TRPM2	21	45802622	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	15936	45802622	2327273	1051	12665											
KRTAP10-10	353333	broad.mit.edu	37	chr21	46057597	46057597	+	Frame_Shift_Del	DEL	C	C	-																															gccggattgctgcacctcctCcccctgccagcaggcctgct																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr21:46057597delC	ENST00000380095.1	+	1	325	c.263delC	c.(262-264)tcfs	p.S88fs	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	88	15 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						TGCACCTCCTCCCcctgccag	0.642													8	203	---	---	---	---						-	46057597	C	-	46057597	7	5	242	1	0	1	0	1	0	0	0	0	8549	855	30	0	265	0	KRTAP10-10	21	46057597	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	254975	46057597	2072298	1052	12666											
SUMO3	6612	broad.mit.edu	37	chr21	46233779	46233779	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catccacgaagagggcacctCgggcagctgcatctgggtcc	8	6	13	14	2	1	1	0	0	1	1	4	2	3	1	3	3	2	4	3	3	1	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr21:46233779C>T	ENST00000411651.2	-	2	374	c.262G>A	c.(262-264)Gag>Aag	p.E88K	SUMO3_ENST00000332859.6_Intron|SUMO3_ENST00000397893.3_Intron|SUMO3_ENST00000479153.1_Intron|SUMO3_ENST00000397898.3_Intron			P55854	SUMO3_HUMAN	small ubiquitin-like modifier 3	50	Ubiquitin-like.				protein sumoylation	cytoplasm|kinetochore	protein binding			prostate(1)	1				Colorectal(79;0.058)		GAGGGCACCTCGGGCAGCTGC	0.642													4	14					0	0	1	0	0	T	46233779	C	T	46233779	3	4	242	1	0	0	0	0	1	0	0	0	15445	899	31	1		1	SUMO3	21	46233779	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	176182	46233779	1896116	1053	12667											
ITGB2	3689	broad.mit.edu	37	chr21	46323417	46323417	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatggggtagcccttggccCgccggaaggtcacgttgaac	7	7	15	12	4	1	1	1	1	0	0	1	3	1	2	3	5	2	2	3	5	3	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr21:46323417C>T	ENST00000397850.2	-	6	814	c.362G>A	c.(361-363)cGg>cAg	p.R121Q	ITGB2_ENST00000397854.3_Intron|ITGB2_ENST00000302347.5_Missense_Mutation_p.R121Q|ITGB2_ENST00000355153.4_Missense_Mutation_p.R121Q|ITGB2_ENST00000397852.1_Missense_Mutation_p.R121Q|ITGB2_ENST00000397857.1_Missense_Mutation_p.R121Q			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	121					apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	GCCCTTGGCCCGCCGGAAGGT	0.592													21	63					0	0	1	0	0	T	46323417	C	T	46323417	3	4	242	1	0	0	0	0	1	0	0	0	7938	652	23	1	1995	1	ITGB2	21	46323417	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	89638	46323417	1806478	1054	12668											
IL17RA	23765	broad.mit.edu	37	chr22	17590304	17590304	+	Frame_Shift_Del	DEL	C	C	-																															ctcgccccttggcagcagcaCccccatggcgtctcctgacc																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:17590304delC	ENST00000319363.6	+	13	2328	c.2195delC	c.(2194-2196)acfs	p.T732fs		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	732					fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		GGCAGCAGCACCCCCATGGCG	0.682													8	32	---	---	---	---						-	17590304	C	-	17590304	7	5	242	1	0	1	0	1	0	0	0	0	7683	507	18	0	2245	0	IL17RA	22	17590304	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08		17590304	33714262	1055	12669											
CLTCL1	8218	broad.mit.edu	37	chr22	19197976	19197976	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtactccatgacccgtgtgcGgtctgccttgatggcagtca	6	11	12	12	2	2	2	1	2	1	0	3	2	3	2	3	2	3	2	3	2	1	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:19197976G>T	ENST00000263200.10	-	20	3181	c.3109C>A	c.(3109-3111)Cgc>Agc	p.R1037S	CLTCL1_ENST00000427926.1_Missense_Mutation_p.R1037S|CLTCL1_ENST00000353891.5_Missense_Mutation_p.R1037S	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1037	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					ACCCGTGTGCGGTCTGCCTTG	0.562			T	?	ALCL								10	43					1.08611e-07	1.11921e-07	1	1	0	T	19197976	G	T	19197976	3	4	242	1	0	0	0	0	1	0	0	0	3590	1116	39	4	1865	4	CLTCL1	22	19197976	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	1607672	19197976	32106590	1056	12670											
MED15	51586	broad.mit.edu	37	chr22	20936976	20936976	+	Frame_Shift_Del	DEL	C	C	-																															ccccgcagtcgatgccccctCccccccagccgtccccgcag																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:20936976delC	ENST00000263205.7	+	10	1420	c.1351delC	c.(1351-1353)ccfs	p.P452fs	MED15_ENST00000478831.1_Intron|MED15_ENST00000292733.7_Frame_Shift_Del_p.P412fs|MED15_ENST00000541476.1_Frame_Shift_Del_p.P386fs|MED15_ENST00000382974.2_Frame_Shift_Del_p.P341fs|MED15_ENST00000542773.1_Intron|MED15_ENST00000425759.2_Frame_Shift_Del_p.P301fs|MED15_ENST00000406969.1_Frame_Shift_Del_p.P386fs	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	452	Poly-Pro.|Pro-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			GATGCCCCCTCCCCCCCAGCC	0.726													16	38	---	---	---	---						-	20936976	C	-	20936976	7	5	242	1	0	1	0	1	0	0	0	0	9483	855	30	0	1389	0	MED15	22	20936976	Frame_Shift_Del	DEL	C	TCGA-KK-A59V-01A-11D-A29Q-08	1739000	20936976	30367590	1057	12671											
AIFM3	150209	broad.mit.edu	37	chr22	21330573	21330573	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaagctggagtacagcaagCtgctgctggcaccagggagc	10	6	14	11	0	1	0	1	0	0	0	1	2	1	2	1	3	7	7	1	3	3	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:21330573C>T	ENST00000399167.2	+	10	1117	c.877C>T	c.(877-879)Ctg>Ttg	p.L293L	AIFM3_ENST00000333607.6_Silent_p.L293L|AIFM3_ENST00000335375.5_Silent_p.L281L|AIFM3_ENST00000399163.2_Silent_p.L293L|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000405089.1_Silent_p.L299L|AIFM3_ENST00000440238.2_Silent_p.L293L	NM_144704.2	NP_653305.1			apoptosis-inducing factor, mitochondrion-associated, 3											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GTACAGCAAGCTGCTGCTGGC	0.607													10	34					0	0	1	0	0	T	21330573	C	T	21330573	2	4	242	1	0	0	0	0	0	0	0	1	425	796	28	2		2	AIFM3	22	21330573	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	393597	21330573	29973993	1058	12672											
CABIN1	23523	broad.mit.edu	37	chr22	24459593	24459593	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtttactggctgaaggctcGcttcctggcgctgcaggtta	5	13	13	10	2	0	1	0	1	0	0	2	1	1	1	1	4	2	7	1	4	3	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:24459593G>A	ENST00000398319.2	+	14	2253	c.1868G>A	c.(1867-1869)cGc>cAc	p.R623H	CABIN1_ENST00000405822.2_Missense_Mutation_p.R573H|CABIN1_ENST00000263119.5_Missense_Mutation_p.R623H	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	623					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CTGAAGGCTCGCTTCCTGGCG	0.582													43	99					0	0	1	0	0	A	24459593	G	A	24459593	3	1	242	1	0	0	0	0	1	0	0	0	2546	1087	38	1	1918	1	CABIN1	22	24459593	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	3129020	24459593	26844973	1059	12673											
PES1	23481	broad.mit.edu	37	chr22	30977346	30977346	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaactctcggagtccaacGcgtaggtgccctcaccggcc	8	7	10	16	4	2	0	1	0	1	0	4	1	3	1	4	3	4	1	4	3	4	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:30977346G>A	ENST00000402281.1	-	10	1371	c.380C>T	c.(379-381)gCg>gTg	p.A127V	PES1_ENST00000354694.6_Missense_Mutation_p.A266V|PES1_ENST00000405677.1_Missense_Mutation_p.A127V|PES1_ENST00000402284.3_Missense_Mutation_p.A249V|PES1_ENST00000335214.6_Missense_Mutation_p.A266V			O00541	PESC_HUMAN	pescadillo ribosomal biogenesis factor 1	266	Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						GGAGTCCAACGCGTAGGTGCC	0.627													12	27					0	0	1	0	0	A	30977346	G	A	30977346	3	1	242	1	0	0	0	0	1	0	0	0	11780	1087	38	1	1001	1	PES1	22	30977346	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	6517753	30977346	20327220	1060	12674											
DUSP18	0	broad.mit.edu	37	chr22	31059579	31059579	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgggtcggatgatgggccGgcatgacttggtccacgtgt	5	11	17	8	3	0	2	0	2	0	0	2	3	1	3	2	5	0	2	2	5	0	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:31059579G>A	ENST00000403268.1	-	3	772	c.302C>T	c.(301-303)cCg>cTg	p.P101L	DUSP18_ENST00000407308.1_Missense_Mutation_p.R138W|DUSP18_ENST00000334679.3_Missense_Mutation_p.R138W|DUSP18_ENST00000404885.1_Missense_Mutation_p.R138W|DUSP18_ENST00000461301.1_Intron			Q8NEJ0	DUS18_HUMAN	dual specificity phosphatase 18	0	Tyrosine-protein phosphatase.					cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			large_intestine(1)|lung(1)|prostate(1)|skin(1)	4						ATGATGGGCCGGCATGACTTG	0.582													23	64					0	0	1	0	0	A	31059579	G	A	31059579	3	1	242	1	0	0	0	0	1	0	0	0	4843	1115	39	1	158	1	DUSP18	22	31059579	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	82233	31059579	20244987	1061	12675											
SMTN	6525	broad.mit.edu	37	chr22	31492818	31492818	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagaccaccacgaggcacaGccagcgggcagctgatggct	10	4	14	13	2	0	2	0	2	0	1	0	4	0	2	3	3	3	4	3	3	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:31492818G>A	ENST00000333137.7	+	14	2179	c.1961G>A	c.(1960-1962)aGc>aAc	p.S654N	SMTN_ENST00000404574.1_Intron|SMTN_ENST00000358743.1_Missense_Mutation_p.S654N|SMTN_ENST00000347557.2_Missense_Mutation_p.S654N	NM_001207018.1|NM_134269.2	NP_001193947.1|NP_599031.1	P53814	SMTN_HUMAN	smoothelin	654					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						ACGAGGCACAGCCAGCGGGCA	0.692													5	125					0	0	1	0	0	A	31492818	G	A	31492818	3	1	242	1	0	0	0	0	1	0	0	0	14868	971	34	2	2011	2	SMTN	22	31492818	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	433239	31492818	19811748	1062	12676											
DEPDC5	9681	broad.mit.edu	37	chr22	32200866	32200866	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccgtgattctcgtctgggCgatgactataatatccctca	8	12	8	13	3	3	2	1	2	2	0	5	3	4	2	3	1	0	0	3	1	3	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:32200866C>T	ENST00000400246.1	+	17	1324	c.1182C>T	c.(1180-1182)ggC>ggT	p.G394G	DEPDC5_ENST00000382105.2_Silent_p.G394G|DEPDC5_ENST00000382111.2_Silent_p.G394G|DEPDC5_ENST00000382112.3_Silent_p.G394G|DEPDC5_ENST00000266091.3_Silent_p.G394G|DEPDC5_ENST00000535622.1_Silent_p.G394G|DEPDC5_ENST00000400242.3_Silent_p.G394G|DEPDC5_ENST00000536766.1_Silent_p.G366G|DEPDC5_ENST00000400248.1_Silent_p.G394G|DEPDC5_ENST00000400249.2_Silent_p.G394G			O75140	DEPD5_HUMAN	DEP domain containing 5	394					intracellular signal transduction			p.G394G(1)		breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CTCGTCTGGGCGATGACTATA	0.453													19	181					0	0	1	0	0	T	32200866	C	T	32200866	2	4	242	1	0	0	0	0	0	0	0	1	4470	755	27	1		1	DEPDC5	22	32200866	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	708048	32200866	19103700	1063	12677											
DEPDC5	9681	broad.mit.edu	37	chr22	32234677	32234677	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgttgttttcaggagggaCgaagatggtgtgcagatgac	9	12	15	5	1	2	3	1	1	1	2	2	6	2	5	0	3	1	3	0	3	1	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:32234677C>T	ENST00000400246.1	+	27	2503	c.2361C>T	c.(2359-2361)gaC>gaT	p.D787D	DEPDC5_ENST00000382105.2_Silent_p.D709D|DEPDC5_ENST00000382111.2_Silent_p.D787D|DEPDC5_ENST00000382112.3_Silent_p.D778D|DEPDC5_ENST00000266091.3_Silent_p.D787D|DEPDC5_ENST00000535622.1_Silent_p.D709D|DEPDC5_ENST00000400248.1_Silent_p.D778D|DEPDC5_ENST00000400249.2_Silent_p.D778D			O75140	DEPD5_HUMAN	DEP domain containing 5	778					intracellular signal transduction			p.D778D(1)|p.D709D(1)		breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TCAGGAGGGACGAAGATGGTG	0.483													34	81					0	0	1	0	0	T	32234677	C	T	32234677	2	4	242	1	0	0	0	0	0	0	0	1	4470	535	19	1		1	DEPDC5	22	32234677	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	33811	32234677	19069889	1064	12678											
SLC5A1	6523	broad.mit.edu	37	chr22	32500781	32500781	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttctctgcagctctaccgTctgtgttggagcctgcgcaa	5	12	10	14	2	3	0	0	0	3	0	4	1	3	1	3	1	5	4	3	1	2	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:32500781T>C	ENST00000266088.4	+	14	1924	c.1674T>C	c.(1672-1674)cgT>cgC	p.R558R	SLC5A1_ENST00000543737.1_Silent_p.R431R	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	558					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						AGCTCTACCGTCTGTGTTGGA	0.502													12	39					0	0	1	0	0	C	32500781	T	C	32500781	2	2	242	1	0	0	0	0	0	0	0	1	14716	1654	58	3		3	SLC5A1	22	32500781	Silent	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	266104	32500781	18803785	1065	12679											
PVALB	5816	broad.mit.edu	37	chr22	37211239	37211239	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcactctttttcttcaggccGaccatttggaagaacttttt	8	16	7	10	1	3	1	1	0	2	1	3	3	3	2	2	2	1	1	2	2	2	6			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:37211239G>A	ENST00000216200.5	-	3	157	c.102C>T	c.(100-102)gtC>gtT	p.V34V	PVALB_ENST00000404171.1_Silent_p.V2V|PVALB_ENST00000417718.2_Silent_p.V34V	NM_002854.2	NP_002845.1	P20472	PRVA_HUMAN	parvalbumin	34							calcium ion binding			large_intestine(1)|lung(1)|skin(1)	3						TCTTCAGGCCGACCATTTGGA	0.527													17	46					0	0	1	0	0	A	37211239	G	A	37211239	2	1	242	1	0	0	0	0	0	0	0	1	12888	1045	37	1		1	PVALB	22	37211239	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	4710458	37211239	14093327	1066	12680											
CDC42EP1	11135	broad.mit.edu	37	chr22	37962592	37962592	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagcacccatcgctcaccccGcagcttcctggccaagaagc	9	5	9	18	2	1	1	1	0	0	1	3	2	2	1	5	1	3	4	5	1	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:37962592G>A	ENST00000249014.4	+	2	656	c.236G>A	c.(235-237)cGc>cAc	p.R79H		NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN	CDC42 effector protein (Rho GTPase binding) 1	79					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|endomembrane system|Golgi apparatus|plasma membrane	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					CGCTCACCCCGCAGCTTCCTG	0.706													18	36					0	0	1	0	0	A	37962592	G	A	37962592	3	1	242	1	0	0	0	0	1	0	0	0	3097	1087	38	1	238	1	CDC42EP1	22	37962592	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	751353	37962592	13341974	1067	12681											
SH3BP1	23616	broad.mit.edu	37	chr22	38041481	38041481	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccctgcccatcgaggcctgCgtcatgatgctgctttctga	5	11	11	14	2	2	2	1	2	1	0	3	3	2	2	3	1	4	2	3	1	0	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:38041481C>T	ENST00000599616.1	+	8	696	c.696C>T	c.(694-696)tgC>tgT	p.C232C	SH3BP1_ENST00000357436.4_Silent_p.C296C|SH3BP1_ENST00000442465.2_Silent_p.C296C|SH3BP1_ENST00000336738.5_Silent_p.C296C|Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000495174.1_3'UTR			Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	296	BAR.				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					TCGAGGCCTGCGTCATGATGC	0.637													5	122					0	0	1	0	0	T	38041481	C	T	38041481	2	4	242	1	0	0	0	0	0	0	0	1	14298	776	27	1		1	SH3BP1	22	38041481	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	78889	38041481	13263085	1068	12682											
TRIOBP	11078	broad.mit.edu	37	chr22	38120299	38120299	+	Frame_Shift_Del	DEL	G	G	-																															agacaaccccagaacatcctGtgcccagcgggacaatccca																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:38120299delG	ENST00000406386.3	+	7	1991	c.1736delG	c.(1735-1737)ttfs	p.C579fs	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	579					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AGAACATCCTGTGCCCAGCGG	0.592													7	156	---	---	---	---						-	38120299	G	-	38120299	7	5	242	1	0	1	0	1	0	0	0	0	16614	1377	48	0	1754	0	TRIOBP	22	38120299	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	78818	38120299	13184267	1069	12683											
GCAT	23464	broad.mit.edu	37	chr22	38211829	38211829	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cattgtccagtctatggctgCcaagacccagaggtgcgact	9	9	11	12	1	1	2	0	0	1	2	2	3	2	2	3	2	2	1	3	2	2	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:38211829C>T	ENST00000323205.6	+	7	1115	c.1052C>T	c.(1051-1053)gCc>gTc	p.A351V	GCAT_ENST00000248924.6_Missense_Mutation_p.A325V	NM_001171690.1	NP_001165161.1	O75600	KBL_HUMAN	glycine C-acetyltransferase	325					biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	TCTATGGCTGCCAAGACCCAG	0.617													37	135					0	0	1	0	0	T	38211829	C	T	38211829	3	4	242	1	0	0	0	0	1	0	0	0	6324	739	26	2	1078	2	GCAT	22	38211829	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	91530	38211829	13092737	1070	12684											
MGAT3	4248	broad.mit.edu	37	chr22	39883622	39883622	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccgcccagcaaggcggcCgaggagctccaccgggtgga	7	3	16	15	4	0	0	0	0	0	0	1	3	1	2	5	5	3	2	5	5	1	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:39883622C>A	ENST00000341184.6	+	2	485	c.270C>A	c.(268-270)gcC>gcA	p.A90A		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	90					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					GCAAGGCGGCCGAGGAGCTCC	0.701													5	110					0.0215528	0.0217133	1	1	0	A	39883622	C	A	39883622	2	1	242	1	0	0	0	0	0	0	0	1	9594	639	23	4		4	MGAT3	22	39883622	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1671793	39883622	11420944	1071	12685											
SMCR7L	0	broad.mit.edu	37	chr22	39909961	39909961	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtggcggctgagcctgcGtcccgcggagacggcacgcc	4	5	16	16	6	0	2	0	1	0	1	1	3	1	2	4	4	2	2	4	4	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:39909961G>A	ENST00000325301.2	+	6	1449	c.1025G>A	c.(1024-1026)cGt>cAt	p.R342H	SMCR7L_ENST00000404569.1_Missense_Mutation_p.R342H|SMCR7L_ENST00000402881.1_Missense_Mutation_p.R342H	NM_019008.4	NP_061881.2	Q9NQG6	SMC7L_HUMAN		342						integral to membrane|mitochondrion				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)	16	Melanoma(58;0.04)					CTGAGCCTGCGTCCCGCGGAG	0.622											OREG0026577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	79					0	0	1	0	0	A	39909961	G	A	39909961	3	1	242	1	0	0	0	0	1	0	0	0	14845	1145	40	1	1039	1	SMCR7L	22	39909961	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	26339	39909961	11394605	1072	12686											
EP300	2033	broad.mit.edu	37	chr22	41573944	41573944	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttagtatccttcacgccAacccccagctgttggctgca	7	11	8	15	1	1	0	1	0	0	0	2	0	2	0	4	1	4	6	4	1	3	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:41573944A>G	ENST00000263253.7	+	31	7448	c.6229A>G	c.(6229-6231)Aac>Gac	p.N2077D	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2077	Interaction with HTLV-1 Tax.|Interaction with NCOA2.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CCTTCACGCCAACCCCCAGCT	0.572			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome				12	137					0	0	1	0	0	G	41573944	A	G	41573944	3	3	242	1	0	0	0	0	1	0	0	0	5176	130	5	3	6351	3	EP300	22	41573944	Missense_Mutation	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	1663983	41573944	9730622	1073	12687											
PHF5A	84844	broad.mit.edu	37	chr22	41863582	41863582	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgcaccagagtgcagggaCgcacataggagtcacaaatc	13	5	12	11	2	1	1	1	0	0	1	2	3	1	3	1	2	2	3	1	2	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:41863582C>T	ENST00000216252.3	-	3	184	c.113G>A	c.(112-114)cGt>cAt	p.R38H	PHF5A_ENST00000491254.1_5'UTR	NM_032758.3	NP_116147.1	Q7RTV0	PHF5A_HUMAN	PHD finger protein 5A	38					nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent	nuclear speck|U12-type spliceosomal complex|U2 snRNP	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(1)	4						AGTGCAGGGACGCACATAGGA	0.502													21	50					0	0	1	0	0	T	41863582	C	T	41863582	3	4	242	1	0	0	0	0	1	0	0	0	11885	536	19	1	227	1	PHF5A	22	41863582	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	289638	41863582	9440984	1074	12688											
ACO2	50	broad.mit.edu	37	chr22	41895751	41895751	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagctctgggtgtgcggcagTaccatgtggcctcagtcctg	6	10	14	11	1	2	0	1	0	1	0	3	0	3	0	3	3	3	3	3	3	2	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:41895751T>C	ENST00000396512.3	+	2	75	c.58T>C	c.(58-60)Tac>Cac	p.Y20H	ACO2_ENST00000216254.4_Missense_Mutation_p.Y20H			Q99798	ACON_HUMAN	aconitase 2, mitochondrial	20					citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						TGTGCGGCAGTACCATGTGGC	0.527													9	341					0	0	1	0	0	C	41895751	T	C	41895751	3	2	242	1	0	0	0	0	1	0	0	0	147	1638	57	3	64	3	ACO2	22	41895751	Missense_Mutation	SNP	T	TCGA-KK-A59V-01A-11D-A29Q-08	32169	41895751	9408815	1075	12689											
A4GALT	53947	broad.mit.edu	37	chr22	43089741	43089741	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgttgcctggagtggggcCgtgggagggtggggtggggg	3	8	26	4	1	0	0	0	0	0	0	0	3	0	2	2	9	1	1	2	9	0	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:43089741C>T	ENST00000401850.1	-	2	706	c.217G>A	c.(217-219)Ggc>Agc	p.G73S	A4GALT_ENST00000381278.3_Missense_Mutation_p.G73S|A4GALT_ENST00000249005.2_Missense_Mutation_p.G73S			Q9NPC4	A4GAT_HUMAN	alpha 1,4-galactosyltransferase	73					glycosphingolipid biosynthetic process|plasma membrane organization	Golgi stack|integral to Golgi membrane|membrane fraction	lactosylceramide 4-alpha-galactosyltransferase activity			NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						GGAGTGGGGCCGTGGGAGGGT	0.622													14	44					0	0	1	0	0	T	43089741	C	T	43089741	3	4	242	1	0	0	0	0	1	0	0	0	6	652	23	1	848	1	A4GALT	22	43089741	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	1193990	43089741	8214825	1076	12690											
TTLL12	23170	broad.mit.edu	37	chr22	43568521	43568521	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacctttcccacgtcttctcGaaggaacaacacgggacttt	10	10	8	13	3	2	0	0	0	2	0	4	4	3	2	2	2	2	0	2	2	3	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:43568521G>A	ENST00000216129.6	-	10	1444	c.1381C>T	c.(1381-1383)Cga>Tga	p.R461*		NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	461	TTL.				protein modification process		tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				ACGTCTTCTCGAAGGAACAAC	0.587													12	67					0	0	1	0	0	A	43568521	G	A	43568521	4	1	242	1	0	0	0	0	0	1	0	0	16787	1066	37	1	573	1	TTLL12	22	43568521	Nonsense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	478780	43568521	7736045	1077	12691											
SCUBE1	80274	broad.mit.edu	37	chr22	43687179	43687179	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattattgtcctgacactcGtccacatctgtgagaaaagg	11	11	8	11	1	1	2	0	2	1	1	4	3	3	2	3	1	0	0	3	1	3	2	rs148070276		TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:43687179G>A	ENST00000360835.3	-	4	483	c.357C>T	c.(355-357)gaC>gaT	p.D119D	SCUBE1_ENST00000290460.7_Silent_p.D119D	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	119	EGF-like 3; calcium-binding (Potential).				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				CCTGACACTCGTCCACATCTG	0.542													4	35					0	0	1	0	0	A	43687179	G	A	43687179	2	1	242	1	0	0	0	0	0	0	0	1	13998	1136	40	1		1	SCUBE1	22	43687179	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	118658	43687179	7617387	1078	12692											
SMC1B	27127	broad.mit.edu	37	chr22	45740517	45740517	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagatctagggtcaaaactcGgctgaacatgcagtcatcgt	13	9	10	9	2	3	2	2	1	1	1	5	2	3	2	0	2	3	2	0	2	5	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:45740517G>A	ENST00000357450.4	-	25	3627	c.3628C>T	c.(3628-3630)Cga>Tga	p.R1210*	SMC1B_ENST00000404354.3_Nonsense_Mutation_p.R1136*	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	1210					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GTCAAAACTCGGCTGAACATG	0.448													51	104					0	0	1	0	0	A	45740517	G	A	45740517	4	1	242	1	0	0	0	0	0	1	0	0	14836	1124	39	1	83	1	SMC1B	22	45740517	Nonsense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	2053338	45740517	5564049	1079	12693											
PPARA	5465	broad.mit.edu	37	chr22	46614283	46614283	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcacaagtgcctttctgtcGggatgtcacacaacggtagg	9	11	11	10	2	3	0	2	0	1	0	4	1	3	1	1	3	2	1	1	3	3	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:46614283G>A	ENST00000396000.2	+	5	758	c.493G>A	c.(493-495)Ggg>Agg	p.G165R	PPARA_ENST00000402126.1_Missense_Mutation_p.G165R|PPARA_ENST00000407236.1_Missense_Mutation_p.G165R|PPARA_ENST00000434345.2_Missense_Mutation_p.G165R|PPARA_ENST00000262735.5_Missense_Mutation_p.G165R			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	165					fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)	CCTTTCTGTCGGGATGTCACA	0.488													55	152					0	0	1	0	0	A	46614283	G	A	46614283	3	1	242	1	0	0	0	0	1	0	0	0	12342	1116	39	1	503	1	PPARA	22	46614283	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	873766	46614283	4690283	1080	12694											
MLC1	23209	broad.mit.edu	37	chr22	50502485	50502485	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccagccaggcgctcctgcGggccgttctgggtgtcccag	3	7	14	17	3	1	0	0	0	1	0	3	0	3	0	6	3	2	2	6	3	0	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chr22:50502485G>A	ENST00000311597.5	-	11	1643	c.1037C>T	c.(1036-1038)cCg>cTg	p.P346L	MLC1_ENST00000538737.1_Missense_Mutation_p.P312L|MLC1_ENST00000450140.2_Missense_Mutation_p.P294L|MLC1_ENST00000395876.2_Missense_Mutation_p.P346L|MLC1_ENST00000431262.2_Missense_Mutation_p.P316L|MLC1_ENST00000535444.1_Missense_Mutation_p.P267L|MLC1_ENST00000483836.1_5'UTR	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with subcortical cysts 1	346						basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		GCGCTCCTGCGGGCCGTTCTG	0.706													6	35					0	0	1	0	0	A	50502485	G	A	50502485	3	1	242	1	0	0	0	0	1	0	0	0	9660	1116	39	1	104	1	MLC1	22	50502485	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	3888202	50502485	802081	1081	12695											
SHROOM2	357	broad.mit.edu	37	chrX	9841702	9841702	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctgttacagattgaagaggGcagtaaagccgcggcggtcg	10	8	15	8	4	1	3	0	1	1	2	2	3	1	3	1	3	2	3	1	3	4	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:9841702G>A	ENST00000380913.3	+	2	266	c.176G>A	c.(175-177)gGc>gAc	p.G59D		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	59	PDZ.				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				ATTGAAGAGGGCAGTAAAGCC	0.532											OREG0019659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	34					0	0	1	0	0	A	9841702	G	A	9841702	3	1	242	1	0	0	0	0	1	0	0	0	14349	1203	42	2	182	2	SHROOM2	23	9841702	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08		9841702	145428858	1082	12696											
OFD1	8481	broad.mit.edu	37	chrX	13778282	13778282	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagcagtctgtgatcgatcGttctgtcaatggattaataa	13	13	9	6	2	3	1	1	1	2	0	5	3	3	2	0	1	1	2	0	1	4	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:13778282G>A	ENST00000380567.1	+	17	2155	c.1283G>A	c.(1282-1284)cGt>cAt	p.R428H	OFD1_ENST00000340096.6_Missense_Mutation_p.R568H|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380550.3_Missense_Mutation_p.R528H			O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	568					cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						GTGATCGATCGTTCTGTCAAT	0.418													41	35					0	0	1	0	0	A	13778282	G	A	13778282	3	1	242	1	0	0	0	0	1	0	0	0	10886	1145	40	1	1765	1	OFD1	23	13778282	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	3936580	13778282	141492278	1083	12697											
MAP3K15	389840	broad.mit.edu	37	chrX	19389112	19389112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgaccgcggcctgcaccgctCggcggatgatgttgtccatc	5	9	13	14	5	0	2	0	2	0	0	3	3	1	3	4	3	1	3	4	3	0	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:19389112C>T	ENST00000338883.4	-	24	3364	c.3365G>A	c.(3364-3366)cGa>cAa	p.R1122Q	MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.R954Q|MAP3K15_ENST00000359173.3_Missense_Mutation_p.R557Q	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	1122							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					CTGCACCGCTCGGCGGATGAT	0.438													6	59					0	0	1	0	0	T	19389112	C	T	19389112	3	4	242	1	0	0	0	0	1	0	0	0	9299	884	31	1	600	1	MAP3K15	23	19389112	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	5610830	19389112	135881448	1084	12698											
FAM47C	442444	broad.mit.edu	37	chrX	37028757	37028757	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagagcctcttgagactcgCgtatctcatctccgcccgga	7	9	9	16	4	3	2	1	1	3	2	6	4	3	3	4	1	1	1	4	1	1	2			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:37028757C>T	ENST00000358047.3	+	1	2326	c.2274C>T	c.(2272-2274)cgC>cgT	p.R758R		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	758								p.R758R(2)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TTGAGACTCGCGTATCTCATC	0.632													12	62					0	0	1	0	0	T	37028757	C	T	37028757	2	4	242	1	0	0	0	0	0	0	0	1	5607	755	27	1		1	FAM47C	23	37028757	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	17639645	37028757	118241803	1085	12699											
UBA1	7317	broad.mit.edu	37	chrX	47069466	47069466	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgggcctgccaccactggCacacccagtactcgaacaac	10	5	8	18	1	0	0	0	0	0	0	1	1	0	0	5	2	4	2	5	2	3	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:47069466C>T	ENST00000335972.6	+	18	2326	c.2143C>T	c.(2143-2145)Cac>Tac	p.H715Y	UBA1_ENST00000377269.3_Missense_Mutation_p.H163Y|UBA1_ENST00000377351.4_Missense_Mutation_p.H715Y	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	715					cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CCACCACTGGCACACCCAGTA	0.607													5	40					0	0	1	0	0	T	47069466	C	T	47069466	3	4	242	1	0	0	0	0	1	0	0	0	16888	710	25	2	2209	2	UBA1	23	47069466	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	10040709	47069466	108201094	1086	12700											
HEPH	9843	broad.mit.edu	37	chrX	65413405	65413405	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggggcacttactggaaagtgCgatatgaagcctttcaagat	12	10	12	7	1	1	2	1	1	0	1	1	4	1	3	1	3	3	1	1	3	5	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:65413405C>T	ENST00000519389.1	+	8	1635	c.1456C>T	c.(1456-1458)Cga>Tga	p.R486*	HEPH_ENST00000336279.5_Nonsense_Mutation_p.R165*|HEPH_ENST00000419594.1_Nonsense_Mutation_p.R435*|HEPH_ENST00000441993.2_Nonsense_Mutation_p.R435*|HEPH_ENST00000374727.3_Nonsense_Mutation_p.R435*|HEPH_ENST00000343002.2_Nonsense_Mutation_p.R432*			Q9BQS7	HEPH_HUMAN	hephaestin	432	Plastocyanin-like 3.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CTGGAAAGTGCGATATGAAGC	0.368													3	15					0	0	1	0	0	T	65413405	C	T	65413405	4	4	242	1	0	0	0	0	0	1	0	0	7095	760	27	1	1486	1	HEPH	23	65413405	Nonsense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	18343939	65413405	89857155	1087	12701											
PJA1	64219	broad.mit.edu	37	chrX	68381892	68381892	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttcccgctcttctttccccGgcagagtctcccagctttcg	3	13	8	17	3	3	1	0	0	3	1	7	1	5	1	4	1	1	4	4	1	0	4			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:68381892G>A	ENST00000361478.1	-	2	1567	c.1190C>T	c.(1189-1191)cCg>cTg	p.P397L	PJA1_ENST00000374583.1_Missense_Mutation_p.P397L|PJA1_ENST00000374571.4_Missense_Mutation_p.P342L|PJA1_ENST00000374584.3_Missense_Mutation_p.P209L	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	397							zinc ion binding			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						TTCTTTCCCCGGCAGAGTCTC	0.627													17	23					0	0	1	0	0	A	68381892	G	A	68381892	3	1	242	1	0	0	0	0	1	0	0	0	12009	1116	39	1	745	1	PJA1	23	68381892	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	2968487	68381892	86888668	1088	12702											
ZMYM3	9203	broad.mit.edu	37	chrX	70472963	70472963	+	Frame_Shift_Del	DEL	G	G	-																															ccgaggatggagaagggccaGggggggcccatcctcgagtt																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:70472963delG	ENST00000373998.1	-	2	840	c.143delC	c.(142-144)ctfs	p.P48fs	ZMYM3_ENST00000373988.1_Frame_Shift_Del_p.P48fs|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373981.1_Frame_Shift_Del_p.P48fs|ZMYM3_ENST00000373982.1_Frame_Shift_Del_p.P48fs|ZMYM3_ENST00000314425.5_Frame_Shift_Del_p.P48fs|ZMYM3_ENST00000373984.3_Frame_Shift_Del_p.P48fs|ZMYM3_ENST00000353904.2_Frame_Shift_Del_p.P48fs|ZMYM3_ENST00000373978.1_Frame_Shift_Del_p.P48fs	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	48					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					AGAAGGGCCAGGGGGGGCCCA	0.607											OREG0019858	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	6	---	---	---	---						-	70472963	G	-	70472963	7	5	242	1	0	1	0	1	0	0	0	0	17759	1000	35	0	4083	0	ZMYM3	23	70472963	Frame_Shift_Del	DEL	G	TCGA-KK-A59V-01A-11D-A29Q-08	2091071	70472963	84797597	1089	12703											
TAF1	6872	broad.mit.edu	37	chrX	70613207	70613207	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgcgcacaatgtcaacagaAcaggctcgttctggagaggg	11	7	14	9	2	2	2	1	0	1	2	3	3	2	2	0	3	3	3	0	3	3	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:70613207A>G	ENST00000449580.1	+	21	3156	c.3105A>G	c.(3103-3105)gaA>gaG	p.E1035E	TAF1_ENST00000423759.1_Silent_p.E1056E|TAF1_ENST00000276072.3_Silent_p.E1056E|TAF1_ENST00000373790.4_Silent_p.E1035E			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1035					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				TGTCAACAGAACAGGCTCGTT	0.458													6	72					0	0	1	0	0	G	70613207	A	G	70613207	2	3	242	1	0	0	0	0	0	0	0	1	15570	40	2	3		3	TAF1	23	70613207	Silent	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	140244	70613207	84657353	1090	12704											
MAGT1	84061	broad.mit.edu	37	chrX	77150899	77150899	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacaccaaaaccgccaacgCgctgccatgttcgctcctct	10	7	6	18	4	1	0	0	0	1	0	3	0	2	0	5	0	3	3	5	0	3	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:77150899C>T	ENST00000358075.6	-	1	191	c.105G>A	c.(103-105)gcG>gcA	p.A35A	MAGT1_ENST00000373336.3_Silent_p.A3A	NM_032121.5	NP_115497.4	Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	3					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						ACCGCCAACGCGCTGCCATGT	0.567													16	6					0	0	1	0	0	T	77150899	C	T	77150899	2	4	242	1	0	0	0	0	0	0	0	1	9246	755	27	1		1	MAGT1	23	77150899	Silent	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	6537692	77150899	78119661	1091	12705											
PCDH19	57526	broad.mit.edu	37	chrX	99662413	99662413	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctctcatattcctgcagtcGaaagggcacattgcccagca	10	9	9	13	1	1	0	1	0	1	0	4	1	2	0	2	1	3	4	2	1	2	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:99662413G>A	ENST00000373034.4	-	1	2858	c.1183C>T	c.(1183-1185)Cga>Tga	p.R395*	PCDH19_ENST00000420881.2_Nonsense_Mutation_p.R395*|PCDH19_ENST00000255531.7_Nonsense_Mutation_p.R395*	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	395	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R395*(1)		breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TCCTGCAGTCGAAAGGGCACA	0.607													39	48					0	0	1	0	0	A	99662413	G	A	99662413	4	1	242	1	0	0	0	0	0	1	0	0	11561	1066	37	1	2287	1	PCDH19	23	99662413	Nonsense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	22511514	99662413	55608147	1092	12706											
TAF7L	54457	broad.mit.edu	37	chrX	100532632	100532632	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcttgtggctgctcattcccGaggatatcaaaaatcctggg	9	11	11	10	1	2	0	2	0	0	0	4	2	4	1	2	3	1	3	2	3	3	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:100532632G>A	ENST00000372907.3	-	9	922	c.911C>T	c.(910-912)tCg>tTg	p.S304L	TAF7L_ENST00000372905.2_Missense_Mutation_p.S218L|TAF7L_ENST00000356784.1_Missense_Mutation_p.S218L|TAF7L_ENST00000324762.6_Missense_Mutation_p.S218L	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	304					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						GCTCATTCCCGAGGATATCAA	0.468													5	133					0	0	1	0	0	A	100532632	G	A	100532632	3	1	242	1	0	0	0	0	1	0	0	0	15590	1059	37	1	497	1	TAF7L	23	100532632	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	870219	100532632	54737928	1093	12707											
TAF7L	54457	broad.mit.edu	37	chrX	100538467	100538467	+	Frame_Shift_Del	DEL	T	T	-																															gtctgctgttttataaaaggTttttttatcaagcgttctca																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:100538467delT	ENST00000372907.3	-	4	519	c.508delA	c.(508-510)ccfs	p.T170fs	TAF7L_ENST00000356784.1_Frame_Shift_Del_p.T84fs|TAF7L_ENST00000324762.6_Frame_Shift_Del_p.T84fs|TAF7L_ENST00000372905.2_Frame_Shift_Del_p.T84fs	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	170					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						TTATAAAAGGTTTTTTTATCA	0.393													7	137	---	---	---	---						-	100538467	T	-	100538467	7	5	242	1	0	1	0	1	0	0	0	0	15590	1725	60	0	920	0	TAF7L	23	100538467	Frame_Shift_Del	DEL	T	TCGA-KK-A59V-01A-11D-A29Q-08	5835	100538467	54732093	1094	12708											
TEX13A	56157	broad.mit.edu	37	chrX	104464233	104464233	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catgggggcagccccagcctCcacagggggagccatggcct	7	4	15	15	0	0	0	0	0	0	0	1	1	1	1	6	5	3	1	6	5	0	0			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:104464233C>A	ENST00000413579.1	-	5	754	c.643G>T	c.(643-645)Gag>Tag	p.E215*	IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.W215C|IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372578.3_Missense_Mutation_p.W215C			Q9BXU3	TX13A_HUMAN	testis expressed 13A	215						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						GCCCCAGCCTCCACAGGGGGA	0.637													17	9					4.14922e-12	4.32094e-12	1	1	0	A	104464233	C	A	104464233	4	1	242	1	0	0	0	0	0	1	0	0	15835	856	30	4	590	4	TEX13A	23	104464233	Nonsense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	3925766	104464233	50806327	1095	12709											
OCRL	4952	broad.mit.edu	37	chrX	128723862	128723862	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgccatagaaatgttttccGttacttgatggcattccttc	9	16	7	9	1	0	2	0	1	0	1	3	2	2	2	3	1	2	3	3	1	3	7			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:128723862G>A	ENST00000371113.4	+	23	2675	c.2510G>A	c.(2509-2511)cGt>cAt	p.R837H	OCRL_ENST00000357121.5_Missense_Mutation_p.R829H	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	837	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						AATGTTTTCCGTTACTTGATG	0.433													26	30					0	0	1	0	0	A	128723862	G	A	128723862	3	1	242	1	0	0	0	0	1	0	0	0	10871	1145	40	1	2600	1	OCRL	23	128723862	Missense_Mutation	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	24259629	128723862	26546698	1096	12710											
ZNF280C	55609	broad.mit.edu	37	chrX	129370543	129370543	+	Frame_Shift_Del	DEL	T	T	-																															acatcttcactggtctttggTttttttggagtaacactgtt																										TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:129370543delT	ENST00000370978.4	-	7	717	c.564delA	c.(562-564)aafs	p.K188fs		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	188	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						TGGTCTTTGGTTTTTTTGGAG	0.358													9	51	---	---	---	---						-	129370543	T	-	129370543	7	5	242	1	0	1	0	1	0	0	0	0	17874	1722	60	0	1701	0	ZNF280C	23	129370543	Frame_Shift_Del	DEL	T	TCGA-KK-A59V-01A-11D-A29Q-08	646681	129370543	25900017	1097	12711											
MTM1	4534	broad.mit.edu	37	chrX	149831996	149831996	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctatactaaagaaatcaatCgagttttatatccagttgcc	14	14	5	8	1	2	1	1	0	1	1	4	2	3	1	2	0	2	2	2	0	8	7			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:149831996C>T	ENST00000370396.2	+	14	1612	c.1558C>T	c.(1558-1560)Cga>Tga	p.R520*	MTM1_ENST00000543350.1_Nonsense_Mutation_p.R405*|MTM1_ENST00000413012.2_Nonsense_Mutation_p.R483*|MTM1_ENST00000542741.1_3'UTR|MTM1_ENST00000306167.7_3'UTR	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	520	Myotubularin phosphatase.				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					AGAAATCAATCGAGTTTTATA	0.373													8	33					0	0	1	0	0	T	149831996	C	T	149831996	4	4	242	1	0	0	0	0	0	1	0	0	9985	876	31	1	1608	1	MTM1	23	149831996	Nonsense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	20461453	149831996	5438564	1098	12712											
PNCK	139728	broad.mit.edu	37	chrX	152937471	152937471	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaacagctcgccacccgtcAccctgggggtgccaggggtt	7	6	13	15	2	1	0	1	0	0	0	2	0	1	0	4	4	3	2	4	4	1	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:152937471A>G	ENST00000393831.2	-	5	712	c.278T>C	c.(277-279)gTg>gCg	p.V93A	PNCK_ENST00000447676.2_Missense_Mutation_p.V176A|PNCK_ENST00000475172.1_5'UTR|PNCK_ENST00000370142.1_Missense_Mutation_p.V93A|PNCK_ENST00000370145.4_Missense_Mutation_p.V110A|PNCK_ENST00000370150.1_Missense_Mutation_p.V93A|PNCK_ENST00000340888.3_Missense_Mutation_p.V93A	NM_001039582.3	NP_001034671.3	Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	93	Protein kinase.					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCCACCCGTCACCCTGGGGGT	0.667													3	26					0	0	1	0	0	G	152937471	A	G	152937471	3	3	242	1	0	0	0	0	1	0	0	0	12193	159	6	3	781	3	PNCK	23	152937471	Missense_Mutation	SNP	A	TCGA-KK-A59V-01A-11D-A29Q-08	3105475	152937471	2333089	1099	12713											
L1CAM	3897	broad.mit.edu	37	chrX	153132319	153132319	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcgttccagtccatccacCggagcggctggaggaggcca	7	5	16	13	3	0	0	0	0	0	0	3	3	3	3	5	6	1	2	5	6	0	1			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:153132319C>T	ENST00000370060.1	-	19	2405	c.2216G>A	c.(2215-2217)cGg>cAg	p.R739Q	L1CAM_ENST00000361981.3_Missense_Mutation_p.R734Q|L1CAM_ENST00000361699.4_Missense_Mutation_p.R739Q|L1CAM_ENST00000538883.1_Missense_Mutation_p.R741Q|L1CAM_ENST00000370055.1_Missense_Mutation_p.R734Q|L1CAM_ENST00000543994.1_Missense_Mutation_p.R741Q|L1CAM_ENST00000370057.3_Missense_Mutation_p.R739Q	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	739	Fibronectin type-III 2.		R -> W.		axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTCCATCCACCGGAGCGGCTG	0.642													24	10					0	0	1	0	0	T	153132319	C	T	153132319	3	4	242	1	0	0	0	0	1	0	0	0	8627	652	23	1	1601	1	L1CAM	23	153132319	Missense_Mutation	SNP	C	TCGA-KK-A59V-01A-11D-A29Q-08	194848	153132319	2138241	1100	12714											
FLNA	0	broad.mit.edu	37	chrX	153587696	153587696	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactcgaccgagcagctgccGtccttgttatccatgcagga	8	10	10	13	3	0	0	0	0	0	0	3	3	2	1	4	1	5	4	4	1	2	3			TCGA-KK-A59V-01A-11D-A29Q-08	TCGA-KK-A59V-11A-11D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2833ed55-763d-4ebc-a89b-3b4e255adbc1	416fc29a-c168-4848-9a78-5edde11e4cd7	g.chrX:153587696G>A	ENST00000422373.1	-	25	4469	c.4221C>T	c.(4219-4221)gaC>gaT	p.D1407D	FLNA_ENST00000360319.4_Silent_p.D1407D|FLNA_ENST00000344736.4_Silent_p.D1407D|FLNA_ENST00000369850.3_Silent_p.D1407D	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1407					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGCAGCTGCCGTCCTTGTTAT	0.632													5	107					0	0	1	0	0	A	153587696	G	A	153587696	2	1	242	1	0	0	0	0	0	0	0	1	5966	1136	40	1		1	FLNA	23	153587696	Silent	SNP	G	TCGA-KK-A59V-01A-11D-A29Q-08	455377	153587696	1682864	1101	12715											
USP24	23358	broad.mit.edu	37	chr1	55538531	55538532	+	Frame_Shift_Del	DEL	AC	AC	-																															aagtactccttagctgcaggAcacctgatgaccgaggagat																										TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr1:55538531_55538532delAC	ENST00000294383.6	-	65	7528_7529	c.7529_7530delGT	c.(7528-7530)tfs	p.C2510fs	USP24_ENST00000484447.1_5'UTR|USP24_ENST00000407756.1_Frame_Shift_Del_p.C2350fs	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	2510					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						TAGCTGCAGGACACCTGATGAC	0.406													7	20	---	---	---	---						-	55538532	AC	-	55538531	7	5	243	1	0	1	0	1	0	0	0	0	17115	273	10	0	348	0	USP24	1	55538531	Frame_Shift_Del	DEL	AC	TCGA-KK-A59X-01A-11D-A29Q-08		55538531	193712090	1	12716											
TGFBR3	7049	broad.mit.edu	37	chr1	92195471	92195471	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgggttgaaggtactcagCaaggtaattgagtgagagaa	13	11	14	3	0	1	4	1	3	0	1	1	5	1	4	0	3	2	4	0	3	5	5			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr1:92195471C>T	ENST00000212355.4	-	6	1093	c.628G>A	c.(628-630)Gct>Act	p.A210T	TGFBR3_ENST00000370399.2_Missense_Mutation_p.A210T|TGFBR3_ENST00000468996.2_5'UTR|TGFBR3_ENST00000525962.1_Missense_Mutation_p.A210T	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	210					BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		AGGTACTCAGCAAGGTAATTG	0.473													53	101					0	0	1	0	0	T	92195471	C	T	92195471	3	4	243	1	0	0	0	0	1	0	0	0	15883	710	25	2	1975	2	TGFBR3	1	92195471	Missense_Mutation	SNP	C	TCGA-KK-A59X-01A-11D-A29Q-08	36656940	92195471	157055150	2	12717											
HIST2H2AC	8338	broad.mit.edu	37	chr1	149858895	149858895	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaaagaaaaccgaaagccAcaaagccaaaagcaaataaa	25	1	5	10	1	0	1	0	0	0	1	0	2	0	1	4	0	4	1	4	0	10	1			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr1:149858895A>G	ENST00000331380.2	+	1	371	c.371A>G	c.(370-372)cAc>cGc	p.H124R		NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	124					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			ACCGAAAGCCACAAAGCCAAA	0.463													5	170					0	0	1	0	0	G	149858895	A	G	149858895	3	3	243	1	0	0	0	0	1	0	0	0	7219	159	6	3	373	3	HIST2H2AC	1	149858895	Missense_Mutation	SNP	A	TCGA-KK-A59X-01A-11D-A29Q-08	57663424	149858895	99391726	3	12718											
C1orf51	148523	broad.mit.edu	37	chr1	150255843	150255843	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggcagaggggaggttcaCggcccagcccgggtcctatc	6	7	16	12	2	1	1	1	0	0	1	3	2	2	2	3	6	1	2	3	6	1	3			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr1:150255843C>T	ENST00000290363.5	+	1	615	c.166C>T	c.(166-168)Cgg>Tgg	p.R56W	C1orf51_ENST00000369094.1_Intron|C1orf51_ENST00000369095.1_Missense_Mutation_p.R56W|C1orf51_ENST00000469255.1_3'UTR	NM_144697.2	NP_653298.1	Q8N365	CA051_HUMAN	chromosome 1 open reading frame 51	56										endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGGAGGTTCACGGCCCAGCCC	0.602													5	340					0	0	1	0	0	T	150255843	C	T	150255843	3	4	243	1	0	0	0	0	1	0	0	0	2057	527	19	1	168	1	C1orf51	1	150255843	Missense_Mutation	SNP	C	TCGA-KK-A59X-01A-11D-A29Q-08	396948	150255843	98994778	4	12719											
RARB	5915	broad.mit.edu	37	chr3	25215907	25215907	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acatgaccaccagcggccacGcatgtccggtcccagcagtg	9	5	11	16	3	0	1	0	1	0	0	2	1	2	1	5	2	2	2	5	2	0	0			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr3:25215907G>A	ENST00000404969.1	+	1	19	c.19G>A	c.(19-21)Gca>Aca	p.A7T				P10826	RARB_HUMAN	retinoic acid receptor, beta	7	Modulating.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	CAGCGGCCACGCATGTCCGGT	0.552													78	123					0	0	1	0	0	A	25215907	G	A	25215907	3	1	243	1	0	0	0	0	1	0	0	0	13105	1102	38	1		1	RARB	3	25215907	Missense_Mutation	SNP	G	TCGA-KK-A59X-01A-11D-A29Q-08		25215907	172806523	5	12720											
ALS2CL	259173	broad.mit.edu	37	chr3	46713451	46713451	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tactcccggcccaataccctCgacaccgtgccctcaatttc	8	9	5	19	3	1	0	1	0	0	0	4	1	2	0	5	1	3	0	5	1	4	3			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr3:46713451C>T	ENST00000318962.4	-	24	2690	c.2607G>A	c.(2605-2607)tcG>tcA	p.S869S	ALS2CL_ENST00000383742.3_Silent_p.S216S|ALS2CL_ENST00000415953.1_Silent_p.S869S	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	869	VPS9.				endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		CCAATACCCTCGACACCGTGC	0.642													7	139					0	0	1	0	0	T	46713451	C	T	46713451	2	4	243	1	0	0	0	0	0	0	0	1	547	871	31	1		1	ALS2CL	3	46713451	Silent	SNP	C	TCGA-KK-A59X-01A-11D-A29Q-08	21497544	46713451	151308979	6	12721											
ROBO1	6091	broad.mit.edu	37	chr3	78987846	78987846	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	catcaggtctacttttccgtCcatgtactatacgtaagaaa	12	13	6	10	2	2	1	1	0	1	1	4	1	4	1	2	1	3	2	2	1	6	7			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr3:78987846C>T	ENST00000436010.2	-	2	1284	c.287G>A	c.(286-288)gGa>gAa	p.G96E	ROBO1_ENST00000495273.1_Missense_Mutation_p.G96E|ROBO1_ENST00000467549.1_Missense_Mutation_p.G96E|ROBO1_ENST00000464233.1_Missense_Mutation_p.G135E			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	135	Ig-like C2-type 1.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		ACTTTTCCGTCCATGTACTAT	0.473													19	26					0	0	1	0	0	T	78987846	C	T	78987846	3	4	243	1	0	0	0	0	1	0	0	0	13565	855	30	2	4676	2	ROBO1	3	78987846	Missense_Mutation	SNP	C	TCGA-KK-A59X-01A-11D-A29Q-08	32274395	78987846	119034584	7	12722											
ETV5	2119	broad.mit.edu	37	chr3	185797768	185797768	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaactgggccagctgcagggGcatgccctgaggtgggcaga	8	5	18	10	0	0	2	0	1	0	1	0	3	0	2	2	5	4	4	2	5	1	0			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr3:185797768G>A	ENST00000306376.5	-	7	734	c.488C>T	c.(487-489)gCc>gTc	p.A163V	ETV5_ENST00000434744.1_Missense_Mutation_p.A163V|ETV5-AS1_ENST00000453370.1_RNA|ETV5_ENST00000537818.1_Missense_Mutation_p.A205V	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	163					cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			AGCTGCAGGGGCATGCCCTGA	0.637			T	"TMPRSS2, SCL45A3"	Prostate								4	107					0	0	1	0	0	A	185797768	G	A	185797768	3	1	243	1	0	0	0	0	1	0	0	0	5310	1203	42	2	1072	2	ETV5	3	185797768	Missense_Mutation	SNP	G	TCGA-KK-A59X-01A-11D-A29Q-08	106809922	185797768	12224662	8	12723											
LEF1	51176	broad.mit.edu	37	chr4	108999454	108999454	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acattcgctctcatttctttCatgtataacataaaagcatt	13	16	3	9	1	3	0	2	0	2	0	5	0	3	0	0	0	2	3	0	0	4	7			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr4:108999454C>T	ENST00000379951.2	-	7	2034	c.846G>A	c.(844-846)atG>atA	p.M282I	LEF1_ENST00000438313.2_Missense_Mutation_p.M282I|LEF1_ENST00000503879.1_5'UTR|LEF1_ENST00000510624.1_Missense_Mutation_p.M214I|LEF1_ENST00000265165.1_Missense_Mutation_p.M310I	NM_001130713.2|NM_001130714.2	NP_001124185.1|NP_001124186.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	310					canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		TCATTTCTTTCATGTATAACA	0.433													195	266					0	0	1	0	0	T	108999454	C	T	108999454	3	4	243	1	0	0	0	0	1	0	0	0	8753	826	29	2	369	2	LEF1	4	108999454	Missense_Mutation	SNP	C	TCGA-KK-A59X-01A-11D-A29Q-08		108999454	82154822	9	12724											
CAMK2D	817	broad.mit.edu	37	chr4	114469847	114469847	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaactatgccatttaggtgaCaatgattaacactttctaga	14	13	7	7	0	1	3	0	2	1	1	1	4	1	3	1	1	3	0	1	1	6	6			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr4:114469847C>A	ENST00000454265.2	-	6	1238	c.380G>T	c.(379-381)tGt>tTt	p.C127F	CAMK2D_ENST00000514328.1_Missense_Mutation_p.C127F|CAMK2D_ENST00000429180.1_Missense_Mutation_p.C127F|CAMK2D_ENST00000511664.1_Intron|CAMK2D_ENST00000379773.2_Missense_Mutation_p.C127F|CAMK2D_ENST00000508738.1_Missense_Mutation_p.C127F|CAMK2D_ENST00000394526.2_Missense_Mutation_p.C127F|CAMK2D_ENST00000394522.3_Missense_Mutation_p.C127F|CAMK2D_ENST00000505990.1_Intron|CAMK2D_ENST00000394524.3_Missense_Mutation_p.C127F|CAMK2D_ENST00000342666.5_Missense_Mutation_p.C127F|CAMK2D_ENST00000418639.2_Missense_Mutation_p.C127F|CAMK2D_ENST00000515496.1_Missense_Mutation_p.C127F|CAMK2D_ENST00000296402.5_Missense_Mutation_p.C127F			Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II delta	127	Protein kinase.				interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		ATTTAGGTGACAATGATTAAC	0.378													28	39					2.47511e-08	2.57682e-08	1	1	0	A	114469847	C	A	114469847	3	1	243	1	0	0	0	0	1	0	0	0	2619	478	17	4	1266	4	CAMK2D	4	114469847	Missense_Mutation	SNP	C	TCGA-KK-A59X-01A-11D-A29Q-08	5470393	114469847	76684429	10	12725											
DAB2	1601	broad.mit.edu	37	chr5	39377007	39377007	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	actggagatgtccttgggagGgccagctctgggaggtggct	6	9	18	8	0	1	1	0	0	1	1	2	4	2	3	2	6	1	2	2	6	0	1			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr5:39377007G>A	ENST00000545653.1	-	11	2349	c.1819C>T	c.(1819-1821)Cct>Tct	p.P607S	DAB2_ENST00000509337.1_Missense_Mutation_p.P607S|DAB2_ENST00000339788.6_Missense_Mutation_p.P410S|DAB2_ENST00000320816.6_Missense_Mutation_p.P628S	NM_001244871.1	NP_001231800.1	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	628					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			TCCTTGGGAGGGCCAGCTCTG	0.522											OREG0016586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	182					0	0	1	0	0	A	39377007	G	A	39377007	3	1	243	1	0	0	0	0	1	0	0	0	4242	1232	43	2	442	2	DAB2	5	39377007	Missense_Mutation	SNP	G	TCGA-KK-A59X-01A-11D-A29Q-08		39377007	141538253	11	12726											
IL6ST	3572	broad.mit.edu	37	chr5	55259975	55259975	+	Splice_Site	DEL	T	T	-																															aattcaggtttataactaccTttatatacaggatcaaaatt																										TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr5:55259975delT	ENST00000381298.2	-	6	969	c.658_splice	c.e6+1	p.K219_splice	IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000336909.5_Splice_Site_p.K219_splice|IL6ST_ENST00000381287.4_Splice_Site_p.K219_splice|IL6ST_ENST00000522633.2_Splice_Site_p.K219_splice|IL6ST_ENST00000536319.1_Splice_Site_p.K219_splice|IL6ST_ENST00000381294.3_Splice_Site_p.K219_splice|IL6ST_ENST00000502326.3_Splice_Site_p.K219_splice	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer (gp130, oncostatin M receptor)	219					interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				TATAACTACCTTTATATACAG	0.294			O		hepatocellular ca								9	23	---	---	---	---						-	55259975	T	-	55259975	8	5	243	1	0	1	0	1	0	0	1	0	7747	1623	56	0	2147	0	IL6ST	5	55259975	Splice_Site	DEL	T	TCGA-KK-A59X-01A-11D-A29Q-08	15882968	55259975	125655285	12	12727											
YTHDC2	64848	broad.mit.edu	37	chr5	112889507	112889507	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaatatgcaaacatccgatCaaaagaaagtattaaaaaac	23	7	4	7	1	1	1	1	0	0	1	2	2	2	1	1	0	3	2	1	0	10	3			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr5:112889507C>T	ENST00000161863.4	+	15	2221	c.2008C>T	c.(2008-2010)Caa>Taa	p.Q670*	YTHDC2_ENST00000515883.1_Nonsense_Mutation_p.Q670*	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	670	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		AACATCCGATCAAAAGAAAGT	0.303													19	26					0	0	1	0	0	T	112889507	C	T	112889507	4	4	243	1	0	0	0	0	0	1	0	0	17557	827	29	2	2066	2	YTHDC2	5	112889507	Nonsense_Mutation	SNP	C	TCGA-KK-A59X-01A-11D-A29Q-08	57629532	112889507	68025753	13	12728											
SLC4A9	83697	broad.mit.edu	37	chr5	139743379	139743379	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccccagcgatttcttggaCgccctgcatctccagtgctt	6	12	8	15	2	2	0	0	0	2	0	3	2	2	1	4	1	4	2	4	1	1	4			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr5:139743379C>T	ENST00000230993.6	+	9	1253	c.1218C>T	c.(1216-1218)gaC>gaT	p.D406D	SLC4A9_ENST00000506545.1_Silent_p.D382D|SLC4A9_ENST00000506757.2_Silent_p.D382D|SLC4A9_ENST00000432095.2_Silent_p.D371D|SLC4A9_ENST00000507527.1_Silent_p.D406D	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	406						integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTTCTTGGACGCCCTGCATC	0.582											OREG0016461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	47					0	0	1	0	0	T	139743379	C	T	139743379	2	4	243	1	0	0	0	0	0	0	0	1	14715	535	19	1		1	SLC4A9	5	139743379	Silent	SNP	C	TCGA-KK-A59X-01A-11D-A29Q-08	26853872	139743379	41171881	14	12729											
IRF4	3662	broad.mit.edu	37	chr6	397192	397193	+	Frame_Shift_Ins	INS	-	-	AA																															acacccggaaatcccgtaccINSaatgtcccatgacgtttgga																										TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr6:397192_397193insAA	ENST00000380956.4	+	5	703_704	c.577_578insAA	c.(577-579)atgfs	p.M193fs	IRF4_ENST00000495137.1_3'UTR	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	193					interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		AATCCCGTACCAATGTCCCATG	0.554			T	IGH@	MM								119	161	---	---	---	---						AA	397193	-	AA	397192	7	5	243	1	0	1	1	0	0	0	0	0	7876	595	21	0	591	0	IRF4	6	397192	Frame_Shift_Ins	INS	-	TCGA-KK-A59X-01A-11D-A29Q-08		397192	170717875	15	12730											
KIF13A	63971	broad.mit.edu	37	chr6	17777528	17777528	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attatgaacatttggtgtacTgaggctcctccgaatgtgcc	9	13	10	9	1	0	2	0	2	0	0	2	3	2	2	3	2	3	2	3	2	4	3			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr6:17777528T>C	ENST00000378814.5	-	33	4110	c.4111A>G	c.(4111-4113)Agt>Ggt	p.S1371G	KIF13A_ENST00000378826.2_Missense_Mutation_p.S1384G|KIF13A_ENST00000378816.5_Missense_Mutation_p.S1384G|KIF13A_ENST00000378843.2_Missense_Mutation_p.S1371G|KIF13A_ENST00000259711.6_Missense_Mutation_p.S1384G	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1384					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TTTGGTGTACTGAGGCTCCTC	0.453													9	17					0	0	1	0	0	C	17777528	T	C	17777528	3	2	243	1	0	0	0	0	1	0	0	0	8316	1580	55	3	1316	3	KIF13A	6	17777528	Missense_Mutation	SNP	T	TCGA-KK-A59X-01A-11D-A29Q-08	17380336	17777528	153337539	16	12731											
DEF6	50619	broad.mit.edu	37	chr6	35285708	35285708	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagcgctgcatgttctgtgTgaagacagccaaccgcacgt	11	8	11	11	3	1	2	0	1	1	1	1	2	1	2	2	0	4	4	2	0	3	1			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr6:35285708T>G	ENST00000316637.5	+	6	853	c.848T>G	c.(847-849)gTg>gGg	p.V283G	DEF6_ENST00000468102.1_3'UTR|DEF6_ENST00000542066.1_Missense_Mutation_p.V28G	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog (mouse)	283	PH.					cytoplasm|nucleus|plasma membrane				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						ATGTTCTGTGTGAAGACAGCC	0.657													20	26					0	0	1	0	0	G	35285708	T	G	35285708	3	3	243	1	0	0	0	0	1	0	0	0	4409	1696	59	5	870	5	DEF6	6	35285708	Missense_Mutation	SNP	T	TCGA-KK-A59X-01A-11D-A29Q-08	17508180	35285708	135829359	17	12732											
DNAH8	1769	broad.mit.edu	37	chr6	38906615	38906615	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaaaagagaattacaaataTtatcgagtacctgacatatg	18	11	6	6	1	1	2	1	1	0	1	2	4	1	2	1	0	2	1	1	0	9	5			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr6:38906615T>C	ENST00000359357.3	+	77	11461	c.11207T>C	c.(11206-11208)aTt>aCt	p.I3736T	DNAH8_ENST00000449981.2_Missense_Mutation_p.I3953T|DNAH8_ENST00000441566.1_Missense_Mutation_p.I3700T|RP1-207H1.3_ENST00000416948.1_RNA					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATTACAAATATTATCGAGTAC	0.328													24	33					0	0	1	0	0	C	38906615	T	C	38906615	3	2	243	1	0	0	0	0	1	0	0	0	4634	1493	52	3	11505	3	DNAH8	6	38906615	Missense_Mutation	SNP	T	TCGA-KK-A59X-01A-11D-A29Q-08	3620907	38906615	132208452	18	12733											
KIAA1244	57221	broad.mit.edu	37	chr6	138611047	138611047	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgtgcatggaggccatcCtcagcgtaggcctggagatg	7	10	14	10	1	2	1	1	0	1	1	3	3	3	2	3	4	2	2	3	4	1	2			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr6:138611047C>G	ENST00000251691.4	+	18	3155	c.2989C>G	c.(2989-2991)Ctc>Gtc	p.L997V		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	997					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GGAGGCCATCCTCAGCGTAGG	0.602													39	59					0	0	1	0	0	G	138611047	C	G	138611047	3	3	243	1	0	0	0	0	1	0	0	0	8259	681	24	4	3059	4	KIAA1244	6	138611047	Missense_Mutation	SNP	C	TCGA-KK-A59X-01A-11D-A29Q-08	99704432	138611047	32504020	19	12734											
UTRN	7402	broad.mit.edu	37	chr6	144837472	144837472	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttagaaaatgacatagaaaaTatgttaaaatttgtggaaaa	21	12	7	1	0	0	3	0	1	0	2	0	4	0	4	0	1	0	1	0	1	11	5			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr6:144837472T>C	ENST00000367545.3	+	37	5352	c.5352T>C	c.(5350-5352)aaT>aaC	p.N1784N		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1784					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ACATAGAAAATATGTTAAAAT	0.353													45	63					0	0	1	0	0	C	144837472	T	C	144837472	2	2	243	1	0	0	0	0	0	0	0	1	17163	1403	49	3		3	UTRN	6	144837472	Silent	SNP	T	TCGA-KK-A59X-01A-11D-A29Q-08	6226425	144837472	26277595	20	12735											
ESR1	2099	broad.mit.edu	37	chr6	152265313	152265313	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacctgtgttttcagggataCgaaaagaccgaagaggaggg	13	7	14	7	2	1	2	1	0	0	2	1	6	1	4	2	3	1	1	2	3	4	3			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr6:152265313C>T	ENST00000440973.1	+	6	1136	c.766C>T	c.(766-768)Cga>Tga	p.R256*	ESR1_ENST00000443427.1_Nonsense_Mutation_p.R256*|ESR1_ENST00000206249.3_Nonsense_Mutation_p.R256*|ESR1_ENST00000338799.5_Nonsense_Mutation_p.R256*|ESR1_ENST00000544394.1_Nonsense_Mutation_p.R83*|ESR1_ENST00000482101.1_3'UTR|ESR1_ENST00000406599.1_Intron|ESR1_ENST00000456483.2_Intron	NM_001122742.1	NP_001116214.1	P03372	ESR1_HUMAN	estrogen receptor 1	256	Hinge.|Mediates interaction with DNTTIP2.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	TTCAGGGATACGAAAAGACCG	0.413													51	87					0	0	1	0	0	T	152265313	C	T	152265313	4	4	243	1	0	0	0	0	0	1	0	0	5284	528	19	1	780	1	ESR1	6	152265313	Nonsense_Mutation	SNP	C	TCGA-KK-A59X-01A-11D-A29Q-08	7427841	152265313	18849754	21	12736											
AKAP9	10142	broad.mit.edu	37	chr7	91674411	91674411	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgaagaaacaattggtcGccatgtccttgggattctag	10	13	11	7	1	1	2	0	1	1	1	3	3	2	3	2	2	1	1	2	2	4	5			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr7:91674411G>T	ENST00000359028.2	+	22	5513	c.5288G>T	c.(5287-5289)cGc>cTc	p.R1763L	AKAP9_ENST00000358100.2_Missense_Mutation_p.R1763L|AKAP9_ENST00000356239.3_Missense_Mutation_p.R1751L			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1763					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACAATTGGTCGCCATGTCCTT	0.408			T	BRAF	papillary thyroid								44	87					3.54909e-21	3.79903e-21	1	1	0	T	91674411	G	T	91674411	3	4	243	1	0	0	0	0	1	0	0	0	456	1087	38	4	5334	4	AKAP9	7	91674411	Missense_Mutation	SNP	G	TCGA-KK-A59X-01A-11D-A29Q-08		91674411	67464252	22	12737											
ADAM2	2515	broad.mit.edu	37	chr8	39624518	39624518	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgcaatattcagggaggtcGcattcttcaaaggaaggcct	11	11	11	8	1	3	0	2	0	1	0	4	2	3	2	1	4	1	2	1	4	4	5			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr8:39624518G>A	ENST00000265708.4	-	14	1459	c.1356C>T	c.(1354-1356)tgC>tgT	p.C452C	ADAM2_ENST00000347580.4_Silent_p.C433C|ADAM2_ENST00000521880.1_Silent_p.C452C|ADAM2_ENST00000379853.2_Silent_p.C326C	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	452	Disintegrin.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CAGGGAGGTCGCATTCTTCAA	0.398													96	121					0	0	1	0	0	A	39624518	G	A	39624518	2	1	243	1	0	0	0	0	0	0	0	1	240	1079	38	1		1	ADAM2	8	39624518	Silent	SNP	G	TCGA-KK-A59X-01A-11D-A29Q-08		39624518	106739504	23	12738											
RUNX1T1	862	broad.mit.edu	37	chr8	93004008	93004008	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggcaggccattgggctggtAggataagccgttatttggac	9	10	15	7	1	0	0	0	0	0	0	0	2	0	2	2	6	1	4	2	6	3	5			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr8:93004008A>G	ENST00000523629.1	-	7	1304	c.850T>C	c.(850-852)Tac>Cac	p.Y284H	RUNX1T1_ENST00000436581.2_Missense_Mutation_p.Y295H|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.Y257H|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.Y247H|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.Y284H|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.Y257H|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.Y247H|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.Y247H	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	284					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TTGGGCTGGTAGGATAAGCCG	0.532													41	82					0	0	1	0	0	G	93004008	A	G	93004008	3	3	243	1	0	0	0	0	1	0	0	0	13799	420	15	3	988	3	RUNX1T1	8	93004008	Missense_Mutation	SNP	A	TCGA-KK-A59X-01A-11D-A29Q-08	53379490	93004008	53360014	24	12739											
VLDLR	7436	broad.mit.edu	37	chr9	2643660	2643661	+	Frame_Shift_Del	DEL	TG	TG	-																															gccgacctgaccaatttgaaTgtgaggatggcagctgcatc																										TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr9:2643660_2643661delTG	ENST00000382100.2	+	6	1209_1210	c.853_854delTG	c.(853-855)tfs	p.C285fs	VLDLR_ENST00000382099.2_Frame_Shift_Del_p.C285fs	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	285	LDL-receptor class A 7.				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		CCAATTTGAATGTGAGGATGGC	0.485													40	43	---	---	---	---						-	2643661	TG	-	2643660	7	5	243	1	0	1	0	1	0	0	0	0	17234	1464	51	0	875	0	VLDLR	9	2643660	Frame_Shift_Del	DEL	TG	TCGA-KK-A59X-01A-11D-A29Q-08		2643660	138569771	25	12740											
MRPS2	51116	broad.mit.edu	37	chr9	138392971	138392971	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagtcggaggacagcaccggTaacactgggcgcccagccga	10	3	15	13	4	0	0	0	0	0	0	1	4	0	2	3	4	3	2	3	4	1	1			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr9:138392971T>A	ENST00000371785.1	+	3	378		c.e3+2		MRPS2_ENST00000488610.1_Splice_Site|MRPS2_ENST00000241600.5_Splice_Site|C9orf116_ENST00000371791.1_Intron			Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2						translation	mitochondrion|small ribosomal subunit	structural constituent of ribosome			large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		ACAGCACCGGTAACACTGGGC	0.706													3	6					0	0	1	0	0	A	138392971	T	A	138392971	5	1	243	1	0	0	0	0	0	0	1	0	9880	1652	57	5	177	5	MRPS2	9	138392971	Splice_Site	SNP	T	TCGA-KK-A59X-01A-11D-A29Q-08	135749311	138392971	2820460	26	12741											
SEPHS1	22929	broad.mit.edu	37	chr10	13371763	13371763	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggttttgtcagcaccagcaCgtcccctggcactgcattgt	6	11	11	13	1	1	0	1	0	0	0	2	0	2	0	3	2	3	5	3	2	0	3			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr10:13371763C>T	ENST00000327347.5	-	6	961	c.586G>A	c.(586-588)Gtg>Atg	p.V196M	SEPHS1_ENST00000537130.1_Missense_Mutation_p.V129M|SEPHS1_ENST00000378614.4_Missense_Mutation_p.V196M|SEPHS1_ENST00000545675.1_Missense_Mutation_p.V196M	NM_001195602.1|NM_012247.4	NP_001182531.1|NP_036379.2	P49903	SPS1_HUMAN	selenophosphate synthetase 1	196					protein modification process		ATP binding|GTP binding|selenide, water dikinase activity			cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1)	16						AGCACCAGCACGTCCCCTGGC	0.517													8	15					0	0	1	0	0	T	13371763	C	T	13371763	3	4	243	1	0	0	0	0	1	0	0	0	14108	536	19	1	608	1	SEPHS1	10	13371763	Missense_Mutation	SNP	C	TCGA-KK-A59X-01A-11D-A29Q-08		13371763	122162984	27	12742											
C1S	716	broad.mit.edu	37	chr12	7172584	7172584	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcagctgactcagcgggaaActgccttgacagtttagttg	10	10	12	9	1	1	2	1	2	0	0	1	3	1	3	1	1	5	4	1	1	2	4			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr12:7172584A>G	ENST00000406697.1	+	9	1326	c.698A>G	c.(697-699)aAc>aGc	p.N233S	C1S_ENST00000328916.3_Missense_Mutation_p.N233S|C1S_ENST00000360817.5_Missense_Mutation_p.N233S|C1S_ENST00000402681.3_Missense_Mutation_p.N66S			P09871	C1S_HUMAN	complement component 1, s subcomponent	233	CUB 2.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TCAGCGGGAAACTGCCTTGAC	0.453													45	88					0	0	1	0	0	G	7172584	A	G	7172584	3	3	243	1	0	0	0	0	1	0	0	0	1987	43	2	3	716	3	C1S	12	7172584	Missense_Mutation	SNP	A	TCGA-KK-A59X-01A-11D-A29Q-08		7172584	126679311	28	12743											
TMEM119	338773	broad.mit.edu	37	chr12	108985717	108985717	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggggacctcactgaaggccCgggggcccccggcccggtca	5	3	16	17	4	2	1	2	1	0	0	2	2	2	2	5	7	0	0	5	7	1	0			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr12:108985717C>T	ENST00000392806.3	-	2	611	c.443G>A	c.(442-444)cGg>cAg	p.R148Q		NM_181724.2	NP_859075.2	Q4V9L6	TM119_HUMAN	transmembrane protein 119	148						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						ACTGAAggcccgggggccccc	0.677													25	35					0	0	1	0	0	T	108985717	C	T	108985717	3	4	243	1	0	0	0	0	1	0	0	0	16092	652	23	1	412	1	TMEM119	12	108985717	Missense_Mutation	SNP	C	TCGA-KK-A59X-01A-11D-A29Q-08	101813133	108985717	24866178	29	12744											
WSB2	55884	broad.mit.edu	37	chr12	118472080	118472080	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttggtaagttgttaggaaaCttcgaagggctttccggcat	9	13	12	7	2	0	0	0	0	0	0	2	2	1	1	1	4	1	5	1	4	4	6			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr12:118472080C>G	ENST00000315436.3	-	9	1277	c.1136G>C	c.(1135-1137)aGt>aCt	p.S379T	WSB2_ENST00000542304.1_Missense_Mutation_p.S154T|WSB2_ENST00000441406.2_Missense_Mutation_p.S396T|WSB2_ENST00000544233.1_Missense_Mutation_p.S169T|WSB2_ENST00000535496.1_Missense_Mutation_p.S381T	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN	WD repeat and SOCS box containing 2	379	SOCS box.				intracellular signal transduction					breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGTTAGGAAACTTCGAAGGGC	0.458													91	165					0	0	1	0	0	G	118472080	C	G	118472080	3	3	243	1	0	0	0	0	1	0	0	0	17465	565	20	4	82	4	WSB2	12	118472080	Missense_Mutation	SNP	C	TCGA-KK-A59X-01A-11D-A29Q-08	9486363	118472080	15379815	30	12745											
TRPC4	7223	broad.mit.edu	37	chr13	38237623	38237623	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccctttcgtttcttcataatAgaagtacaattgatttaggc	11	16	6	8	1	2	2	1	1	1	1	3	2	2	2	1	1	1	2	1	1	6	9			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr13:38237623A>G	ENST00000379705.3	-	6	2475	c.1618T>C	c.(1618-1620)Tat>Cat	p.Y540H	TRPC4_ENST00000358477.2_Missense_Mutation_p.Y540H|TRPC4_ENST00000355779.2_Missense_Mutation_p.Y540H|TRPC4_ENST00000338947.5_Missense_Mutation_p.Y367H|TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000379679.1_Missense_Mutation_p.Y367H|TRPC4_ENST00000447043.1_Missense_Mutation_p.Y540H|TRPC4_ENST00000379681.3_Missense_Mutation_p.Y540H|TRPC4_ENST00000494529.1_5'UTR|TRPC4_ENST00000379673.2_Missense_Mutation_p.Y540H			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	540					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TCTTCATAATAGAAGTACAAT	0.348													3	74					0	0	1	0	0	G	38237623	A	G	38237623	3	3	243	1	0	0	0	0	1	0	0	0	16641	420	15	3	1354	3	TRPC4	13	38237623	Missense_Mutation	SNP	A	TCGA-KK-A59X-01A-11D-A29Q-08		38237623	76932255	31	12746											
NALCN	259232	broad.mit.edu	37	chr13	101797243	101797243	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccgcatttgcttcactttgcTttaactaaagaaaaattgga	13	14	6	8	1	1	1	1	0	0	1	1	2	1	2	1	1	3	3	1	1	5	7			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr13:101797243T>G	ENST00000251127.6	-	16	1925	c.1844A>C	c.(1843-1845)aAg>aCg	p.K615T		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	615						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTCACTTTGCTTTAACTAAAG	0.328													8	250					0	0	1	0	0	G	101797243	T	G	101797243	3	3	243	1	0	0	0	0	1	0	0	0	10196	1609	56	5	3488	5	NALCN	13	101797243	Missense_Mutation	SNP	T	TCGA-KK-A59X-01A-11D-A29Q-08	63559620	101797243	13372635	32	12747											
MYO16	23026	broad.mit.edu	37	chr13	109793290	109793290	+	Frame_Shift_Del	DEL	C	C	-																															cgacggcgacaggcccgcgtCccccggcctggcgctgttca																										TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr13:109793290delC	ENST00000356711.2	+	32	4790	c.4664delC	c.(4663-4665)tcfs	p.S1555fs	MYO16_ENST00000357550.2_Frame_Shift_Del_p.S1555fs	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	1555	Pro-rich.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			AGGCCCGCGTCCCCCGGCCTG	0.776													2	4	---	---	---	---						-	109793290	C	-	109793290	7	5	243	1	0	1	0	1	0	0	0	0	10112	855	30	0	4786	0	MYO16	13	109793290	Frame_Shift_Del	DEL	C	TCGA-KK-A59X-01A-11D-A29Q-08	7996047	109793290	5376588	33	12748											
EDDM3A	10876	broad.mit.edu	37	chr14	21215868	21215868	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattacttaagtccaagtcgAgaattcaaagagtacaaatg	17	10	7	7	1	1	2	1	0	0	2	3	3	2	2	1	0	2	1	1	0	7	4			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr14:21215868A>G	ENST00000326842.2	+	2	256	c.129A>G	c.(127-129)cgA>cgG	p.R43R		NM_006683.4	NP_006674.2	Q14507	EP3A_HUMAN	epididymal protein 3A	43					sperm displacement	extracellular space				breast(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						GTCCAAGTCGAGAATTCAAAG	0.378													44	87					0	0	1	0	0	G	21215868	A	G	21215868	2	3	243	1	0	0	0	0	0	0	0	1	4935	291	11	3		3	EDDM3A	14	21215868	Silent	SNP	A	TCGA-KK-A59X-01A-11D-A29Q-08		21215868	86133672	34	12749											
CCPG1	9236	broad.mit.edu	37	chr15	55651764	55651764	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catatggaggggaaaaagtgTgaccaaagaagtgtctatat	16	9	12	4	0	1	2	0	1	1	1	1	4	1	4	1	3	0	0	1	3	7	3			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr15:55651764T>C	ENST00000310958.6	-	8	2505	c.2207A>G	c.(2206-2208)cAc>cGc	p.H736R	CCPG1_ENST00000442196.3_Missense_Mutation_p.H736R|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000425574.3_Missense_Mutation_p.H353R|CCPG1_ENST00000569205.1_Missense_Mutation_p.H736R	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	736					cell cycle	integral to membrane				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		GGAAAAAGTGTGACCAAAGAA	0.328													23	3					0	0	1	0	0	C	55651764	T	C	55651764	3	2	243	1	0	0	0	0	1	0	0	0	2960	1696	59	3	70	3	CCPG1	15	55651764	Missense_Mutation	SNP	T	TCGA-KK-A59X-01A-11D-A29Q-08		55651764	46879628	35	12750											
ISLR2	57611	broad.mit.edu	37	chr15	74425259	74425259	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcctgccaacgtgacgaCgcttagtctgtccgcgaaca	9	8	10	14	5	1	1	0	1	1	0	2	3	2	1	3	0	4	1	3	0	3	1			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr15:74425259C>T	ENST00000361742.3	+	4	933	c.164C>T	c.(163-165)aCg>aTg	p.T55M	ISLR2_ENST00000565159.1_Missense_Mutation_p.T55M|ISLR2_ENST00000419208.1_Missense_Mutation_p.T55M|ISLR2_ENST00000565540.1_Missense_Mutation_p.T55M|ISLR2_ENST00000435464.1_Missense_Mutation_p.T55M|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000453268.2_Missense_Mutation_p.T55M|ISLR2_ENST00000445793.1_Missense_Mutation_p.T55M	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	55					positive regulation of axon extension	cell surface|integral to membrane|plasma membrane		p.T55M(1)		breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						AACGTGACGACGCTTAGTCTG	0.637													70	80					0	0	1	0	0	T	74425259	C	T	74425259	3	4	243	1	0	0	0	0	1	0	0	0	7903	536	19	1	166	1	ISLR2	15	74425259	Missense_Mutation	SNP	C	TCGA-KK-A59X-01A-11D-A29Q-08	18773495	74425259	28106133	36	12751											
CHRNB4	1143	broad.mit.edu	37	chr15	78921727	78921727	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgctggtgacgatggagaagGtgaccagcaccatggtgaac	11	6	15	9	2	0	4	0	3	0	1	0	6	0	4	2	4	2	2	2	4	2	0			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr15:78921727G>A	ENST00000261751.3	-	5	1031	c.920C>T	c.(919-921)aCc>aTc	p.T307I	CHRNB4_ENST00000412074.2_Intron	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	307					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						GATGGAGAAGGTGACCAGCAC	0.587													37	55					0	0	1	0	0	A	78921727	G	A	78921727	3	1	243	1	0	0	0	0	1	0	0	0	3415	1261	44	2	584	2	CHRNB4	15	78921727	Missense_Mutation	SNP	G	TCGA-KK-A59X-01A-11D-A29Q-08	4496468	78921727	23609665	37	12752											
GDPD3	79153	broad.mit.edu	37	chr16	30124727	30124727	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtgtgcagcagatgaggccGgcgcaggaagaagatggaga	12	4	18	7	3	0	5	0	1	0	4	0	7	0	6	1	4	2	3	1	4	2	0			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr16:30124727G>A	ENST00000406256.3	-	1	450	c.73C>T	c.(73-75)Cgg>Tgg	p.R25W		NM_024307.2	NP_077283.2	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain containing 3	25					glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						AGATGAGGCCGGCGCAGGAAG	0.637													5	361					0	0	1	0	0	A	30124727	G	A	30124727	3	1	243	1	0	0	0	0	1	0	0	0	6367	1115	39	1	923	1	GDPD3	16	30124727	Missense_Mutation	SNP	G	TCGA-KK-A59X-01A-11D-A29Q-08		30124727	60230026	38	12753											
CCDC135	84229	broad.mit.edu	37	chr16	57738847	57738847	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	accatcaaaccccccagggaCctgtgcagcaggtttgagca	11	6	10	14	0	1	1	1	1	0	0	1	2	1	2	5	2	4	4	5	2	1	1			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr16:57738847C>T	ENST00000360716.3	+	7	980	c.759C>T	c.(757-759)gaC>gaT	p.D253D	CCDC135_ENST00000394337.4_Silent_p.D253D|CCDC135_ENST00000336825.8_Silent_p.D188D			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	253						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						CCCCCAGGGACCTGTGCAGCA	0.562													28	63					0	0	1	0	0	T	57738847	C	T	57738847	2	4	243	1	0	0	0	0	0	0	0	1	2787	506	18	2		2	CCDC135	16	57738847	Silent	SNP	C	TCGA-KK-A59X-01A-11D-A29Q-08	27614120	57738847	32615906	39	12754											
SLC38A8	146167	broad.mit.edu	37	chr16	84065527	84065527	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccagaggtagtactgcaCggtgatgaccagggccaggt	9	6	17	9	1	0	3	0	2	0	1	0	3	0	3	3	5	2	3	3	5	2	2			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr16:84065527C>T	ENST00000299709.3	-	4	576	c.577G>A	c.(577-579)Gtg>Atg	p.V193M		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	193					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						TAGTACTGCACGGTGATGACC	0.622													39	18					0	0	1	0	0	T	84065527	C	T	84065527	3	4	243	1	0	0	0	0	1	0	0	0	14665	536	19	1	758	1	SLC38A8	16	84065527	Missense_Mutation	SNP	C	TCGA-KK-A59X-01A-11D-A29Q-08	26326680	84065527	6289226	40	12755											
ZZEF1	23140	broad.mit.edu	37	chr17	3959636	3959636	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agctcatcttcttcactccaTtggctgaaagaaggacataa	13	11	7	10	0	4	2	2	1	2	1	5	3	5	3	1	2	1	2	1	2	3	4			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr17:3959636T>C	ENST00000381638.2	-	33	5293	c.5169A>G	c.(5167-5169)caA>caG	p.Q1723Q		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1723							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CTTCACTCCATTGGCTGAAAG	0.443													31	48					0	0	1	0	0	C	3959636	T	C	3959636	2	2	243	1	0	0	0	0	0	0	0	1	18295	1490	52	3		3	ZZEF1	17	3959636	Silent	SNP	T	TCGA-KK-A59X-01A-11D-A29Q-08		3959636	77235574	41	12756											
CDK12	51755	broad.mit.edu	37	chr17	37681027	37681027	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccacctccatccaaaactTctcgaaaagaaactacctca	16	7	3	15	1	2	1	1	0	1	1	5	2	4	1	5	0	4	0	5	0	6	2			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr17:37681027T>C	ENST00000447079.4	+	12	3229	c.3196T>C	c.(3196-3198)Tct>Cct	p.S1066P	CDK12_ENST00000430627.2_Missense_Mutation_p.S1066P	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1066					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						ATCCAAAACTTCTCGAAAAGA	0.557			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)			71	135					0	0	1	0	0	C	37681027	T	C	37681027	3	2	243	1	0	0	0	0	1	0	0	0	3150	1783	62	3	3242	3	CDK12	17	37681027	Missense_Mutation	SNP	T	TCGA-KK-A59X-01A-11D-A29Q-08	33721391	37681027	43514183	42	12757											
RUNDC3A	10900	broad.mit.edu	37	chr17	42390823	42390823	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtggcactgatggagaagcGcatgtcagaatacatcacca	13	7	12	9	1	2	3	2	1	0	2	2	4	2	3	1	3	2	2	1	3	3	1			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr17:42390823G>A	ENST00000426726.3	+	4	684	c.410G>A	c.(409-411)cGc>cAc	p.R137H	RUNDC3A_ENST00000590941.1_Missense_Mutation_p.R132H|AC003102.3_ENST00000588097.1_RNA|RUNDC3A_ENST00000225441.7_Missense_Mutation_p.R137H	NM_001144825.1	NP_001138297.1	Q59EK9	RUN3A_HUMAN	RUN domain containing 3A	137	Interaction with RAP2A (By similarity).|RUN.				small GTPase mediated signal transduction		small GTPase regulator activity			large_intestine(1)|lung(1)|ovary(2)	4		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		ATGGAGAAGCGCATGTCAGAA	0.572													15	39					0	0	1	0	0	A	42390823	G	A	42390823	3	1	243	1	0	0	0	0	1	0	0	0	13796	1087	38	1	424	1	RUNDC3A	17	42390823	Missense_Mutation	SNP	G	TCGA-KK-A59X-01A-11D-A29Q-08	4709796	42390823	38804387	43	12758											
SPOP	8405	broad.mit.edu	37	chr17	47696643	47696643	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattcaggatggagaatttgAattttgcccgaacttcactc	11	13	8	9	1	2	2	2	1	0	1	3	5	2	3	1	2	2	0	1	2	3	5			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr17:47696643A>C	ENST00000393331.3	-	6	775	c.305T>G	c.(304-306)tTc>tGc	p.F102C	SPOP_ENST00000393328.2_Missense_Mutation_p.F102C|SPOP_ENST00000347630.2_Missense_Mutation_p.F102C|SPOP_ENST00000504102.1_Missense_Mutation_p.F102C|SPOP_ENST00000503676.1_Missense_Mutation_p.F102C	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	102	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.F102C(2)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						GGAGAATTTGAATTTTGCCCG	0.408										Prostate(2;0.17)			53	58					0	0	1	0	0	C	47696643	A	C	47696643	3	2	243	1	0	0	0	0	1	0	0	0	15140	246	9	5	847	5	SPOP	17	47696643	Missense_Mutation	SNP	A	TCGA-KK-A59X-01A-11D-A29Q-08	5305820	47696643	33498567	44	12759											
HAUS1	115106	broad.mit.edu	37	chr18	43685267	43685267	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctttcagaacgcaacagggtCcgggacagggatgtctacct	10	8	12	11	2	2	1	1	0	1	1	3	3	3	3	2	3	3	1	2	3	3	2			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr18:43685267C>T	ENST00000282058.6	+	2	218	c.138C>T	c.(136-138)gtC>gtT	p.V46V	HAUS1_ENST00000585518.1_Silent_p.V46V	NM_138443.3	NP_612452.1	Q96CS2	HAUS1_HUMAN	HAUS augmin-like complex, subunit 1	46					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						GCAACAGGGTCCGGGACAGGG	0.433													23	13					0	0	1	0	0	T	43685267	C	T	43685267	2	4	243	1	0	0	0	0	0	0	0	1	7006	842	30	2		2	HAUS1	18	43685267	Silent	SNP	C	TCGA-KK-A59X-01A-11D-A29Q-08		43685267	34391981	45	12760											
SMAD4	4089	broad.mit.edu	37	chr18	48591888	48591888	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgccctattgttactgttGatggatacgtggacccttct	6	15	10	10	1	1	1	0	1	1	0	1	3	1	3	2	2	3	3	2	2	3	6			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr18:48591888G>T	ENST00000342988.3	+	9	1589	c.1051G>T	c.(1051-1053)Gat>Tat	p.D351Y	SMAD4_ENST00000398417.2_Missense_Mutation_p.D351Y|SMAD4_ENST00000588745.1_Missense_Mutation_p.D255Y	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	351	MH2.		D -> N (in a colorectal cancer sample; somatic mutation).		BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.D351H(8)|p.?(2)|p.V350_D351>DN(1)|p.D351N(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TGTTACTGTTGATGGATACGT	0.438													4	62					0.00116845	0.00118402	1	1	0	T	48591888	G	T	48591888	3	4	243	1	0	0	0	0	1	0	0	0	14814	1290	45	4	1081	4	SMAD4	18	48591888	Missense_Mutation	SNP	G	TCGA-KK-A59X-01A-11D-A29Q-08	4906621	48591888	29485360	46	12761			1	29		2	2	14	N	G_A	2.519613e-05
SMAD4	4089	broad.mit.edu	37	chr18	48591901	48591901	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactgttgatggatacgtggAcccttctggaggagatcgct	8	12	13	8	2	1	2	0	1	1	1	2	6	1	5	1	4	2	2	1	4	2	4			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr18:48591901A>T	ENST00000342988.3	+	9	1602	c.1064A>T	c.(1063-1065)gAc>gTc	p.D355V	SMAD4_ENST00000398417.2_Missense_Mutation_p.D355V|SMAD4_ENST00000588745.1_Missense_Mutation_p.D259V	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	355	MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)|p.D355G(2)|p.D355A(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GGATACGTGGACCCTTCTGGA	0.428													37	25					0	0	1	0	0	T	48591901	A	T	48591901	3	4	243	1	0	0	0	0	1	0	0	0	14814	275	10	5	1094	5	SMAD4	18	48591901	Missense_Mutation	SNP	A	TCGA-KK-A59X-01A-11D-A29Q-08	13	48591901	29485347	47	12762			1	29		2	2	14	N	G_A	2.519613e-05
MADCAM1	8174	broad.mit.edu	37	chr19	504757	504757	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccccagcgtccaaacctgCgggtgaccagctgcccgcgg	6	5	12	18	4	0	1	0	1	0	0	2	1	2	1	6	2	5	1	6	2	1	0	rs145604202		TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr19:504757C>T	ENST00000587541.1	+	3	1138	c.284C>T	c.(283-285)gCg>gTg	p.A95V	MADCAM1_ENST00000382683.4_Missense_Mutation_p.A132V|MADCAM1_ENST00000346144.4_Missense_Mutation_p.A227V|AC005775.2_ENST00000592413.1_RNA|MADCAM1_ENST00000215637.3_Missense_Mutation_p.A314V			Q13477	MADCA_HUMAN	mucosal vascular addressin cell adhesion molecule 1	314	Ig-like 1.				cell adhesion|immune response|regulation of immune response|signal transduction	integral to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(10;4.25e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCAAACCTGCGGGTGACCAG	0.672													4	175					0	0	1	0	0	T	504757	C	T	504757	3	4	243	1	0	0	0	0	1	0	0	0	9197	768	27	1	959	1	MADCAM1	19	504757	Missense_Mutation	SNP	C	TCGA-KK-A59X-01A-11D-A29Q-08		504757	58624226	48	12763											
VAV1	7409	broad.mit.edu	37	chr19	6822295	6822295	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgaggaggcggaaggcgaCgagatctatgaggacctcat	13	6	15	7	3	2	3	1	2	1	1	2	8	2	6	1	5	0	0	1	5	3	1			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr19:6822295C>G	ENST00000304076.2	+	5	607	c.513C>G	c.(511-513)gaC>gaG	p.D171E	VAV1_ENST00000539284.1_Missense_Mutation_p.D106E|VAV1_ENST00000602142.1_Missense_Mutation_p.D171E|VAV1_ENST00000599806.1_Missense_Mutation_p.D116E|VAV1_ENST00000596764.1_Missense_Mutation_p.D171E	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	171					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CGGAAGGCGACGAGATCTATG	0.662													4	5					0	0	1	0	0	G	6822295	C	G	6822295	3	3	243	1	0	0	0	0	1	0	0	0	17191	535	19	4	531	4	VAV1	19	6822295	Missense_Mutation	SNP	C	TCGA-KK-A59X-01A-11D-A29Q-08	6317538	6822295	52306688	49	12764											
CNN1	1264	broad.mit.edu	37	chr19	11649778	11649778	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcaaccgaggccctgcctaCgggctgtcagccgaggttaa	8	8	12	13	3	2	0	2	0	0	0	2	2	2	0	4	3	4	2	4	3	3	3	rs139463864		TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr19:11649778C>T	ENST00000252456.2	+	1	247	c.36C>T	c.(34-36)taC>taT	p.Y12Y	CNN1_ENST00000535659.2_5'UTR|CNN1_ENST00000588468.1_3'UTR|CNN1_ENST00000592923.1_5'UTR	NM_001299.4	NP_001290.2	P51911	CNN1_HUMAN	calponin 1, basic, smooth muscle	12					actomyosin structure organization|regulation of smooth muscle contraction	cytoskeleton	actin binding|calmodulin binding			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						GCCCTGCCTACGGGCTGTCAG	0.672													26	40					0	0	1	0	0	T	11649778	C	T	11649778	2	4	243	1	0	0	0	0	0	0	0	1	3632	547	19	1		1	CNN1	19	11649778	Silent	SNP	C	TCGA-KK-A59X-01A-11D-A29Q-08	4827483	11649778	47479205	50	12765											
CEACAM16	388551	broad.mit.edu	37	chr19	45207372	45207372	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgccttatgtgcagcagccCcagccccaccgccgaggtcc	6	5	11	19	3	0	0	0	0	0	0	1	1	1	0	8	1	4	2	8	1	1	1			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr19:45207372C>G	ENST00000587331.1	+	4	682	c.467C>G	c.(466-468)cCc>cGc	p.P156R	CTB-171A8.1_ENST00000590796.1_RNA|CEACAM16_ENST00000405314.2_Missense_Mutation_p.P156R	NM_001039213.2	NP_001034302.2	A7LI12	A7LI12_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 16	156										endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				TGCAGCAGCCCCAGCCCCACC	0.687													7	16					0	0	1	0	0	G	45207372	C	G	45207372	3	3	243	1	0	0	0	0	1	0	0	0	3210	623	22	4	477	4	CEACAM16	19	45207372	Missense_Mutation	SNP	C	TCGA-KK-A59X-01A-11D-A29Q-08	33557594	45207372	13921611	51	12766											
OPA3	80207	broad.mit.edu	37	chr19	46032604	46032604	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gatgaagatgatgccctcgcCcagcagctccgcgcccagct	8	6	11	16	3	0	3	0	2	0	1	2	4	1	3	4	0	4	3	4	0	1	0			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr19:46032604C>A	ENST00000323060.3	-	2	330	c.253G>T	c.(253-255)Ggc>Tgc	p.G85C		NM_001017989.2	NP_001017989.2	Q9H6K4	OPA3_HUMAN	optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)	85					response to stimulus|visual perception	mitochondrion				cervix(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)		ATGCCCTCGCCCAGCAGCTCC	0.627													111	118					9.53466e-49	1.05019e-48	1	1	0	A	46032604	C	A	46032604	3	1	243	1	0	0	0	0	1	0	0	0	10920	623	22	4	293	4	OPA3	19	46032604	Missense_Mutation	SNP	C	TCGA-KK-A59X-01A-11D-A29Q-08	825232	46032604	13096379	52	12767											
RUVBL2	10856	broad.mit.edu	37	chr19	49517861	49517861	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagcagatcctccgcatccgGtgcgggcaggaccaggccgt	8	5	14	14	4	0	1	0	0	0	1	3	2	3	2	5	4	2	3	5	4	1	0			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr19:49517861G>T	ENST00000413176.2	+	12	2134		c.e12+1		RUVBL2_ENST00000601968.1_Splice_Site|RUVBL2_ENST00000595090.1_Splice_Site			Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2						cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		TCCGCATCCGGTGCGGGCAGG	0.632													37	67					1.67305e-13	1.76599e-13	1	1	0	T	49517861	G	T	49517861	5	4	243	1	0	0	0	0	0	0	1	0	13805	1275	44	4	1168	4	RUVBL2	19	49517861	Splice_Site	SNP	G	TCGA-KK-A59X-01A-11D-A29Q-08	3485257	49517861	9611122	53	12768											
MYBPC2	4606	broad.mit.edu	37	chr19	50958485	50958485	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcatcctctatgagatgcGtgtcttcgccgtcaatgcta	7	12	11	11	3	3	1	1	1	2	1	5	2	4	1	2	1	2	2	2	1	3	3			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr19:50958485G>A	ENST00000357701.5	+	19	2186	c.2135G>A	c.(2134-2136)cGt>cAt	p.R712H		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	712	Fibronectin type-III 1.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		TATGAGATGCGTGTCTTCGCC	0.502													66	110					0	0	1	0	0	A	50958485	G	A	50958485	3	1	243	1	0	0	0	0	1	0	0	0	10060	1145	40	1	2209	1	MYBPC2	19	50958485	Missense_Mutation	SNP	G	TCGA-KK-A59X-01A-11D-A29Q-08	1440624	50958485	8170498	54	12769											
KLK3	354	broad.mit.edu	37	chr19	51359573	51359573	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaaccctggcaggtgcttGtggcctctcgtggcagggca	5	8	14	14	1	1	0	0	0	1	0	2	0	1	0	3	5	2	4	3	5	1	1			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr19:51359573G>C	ENST00000360617.3	+	2	124	c.124G>C	c.(124-126)Gtg>Ctg	p.V42L	KLK3_ENST00000597483.1_Missense_Mutation_p.V42L|KLK3_ENST00000593997.1_Missense_Mutation_p.V42L|KLK3_ENST00000595952.1_Missense_Mutation_p.V42L|KLK3_ENST00000326003.2_Missense_Mutation_p.V42L			P07288	KLK3_HUMAN	kallikrein-related peptidase 3	42	Peptidase S1.				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		GCAGGTGCTTGTGGCCTCTCG	0.642													7	224					0	0	1	0	0	C	51359573	G	C	51359573	3	2	243	1	0	0	0	0	1	0	0	0	8448	1377	48	4	130	4	KLK3	19	51359573	Missense_Mutation	SNP	G	TCGA-KK-A59X-01A-11D-A29Q-08	401088	51359573	7769410	55	12770											
SIGLEC1	6614	broad.mit.edu	37	chr20	3686562	3686562	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggtgacagagcgagcagggtCctggccttgccactgcagtc	7	7	15	12	1	0	2	0	1	0	1	2	3	1	2	3	3	4	2	3	3	0	1			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr20:3686562C>T	ENST00000344754.4	-	3	534	c.535G>A	c.(535-537)Gac>Aac	p.D179N	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.D179N	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	179	Ig-like C2-type 1.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CGAGCAGGGTCCTGGCCTTGC	0.632													77	117					0	0	1	0	0	T	3686562	C	T	3686562	3	4	243	1	0	0	0	0	1	0	0	0	14360	855	30	2	4670	2	SIGLEC1	20	3686562	Missense_Mutation	SNP	C	TCGA-KK-A59X-01A-11D-A29Q-08		3686562	59338958	56	12771											
MMP9	4318	broad.mit.edu	37	chr20	44639788	44639788	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcctcctgcagtggttcCaactcggtttggaaacgcag	7	10	10	14	2	0	0	0	0	0	0	4	1	3	1	4	3	3	4	4	3	2	2			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr20:44639788C>A	ENST00000372330.3	+	5	675	c.656C>A	c.(655-657)cCa>cAa	p.P219Q		NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	219					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	GCAGTGGTTCCAACTCGGTTT	0.637													176	308					6.2965e-74	7.03726e-74	1	1	0	A	44639788	C	A	44639788	3	1	243	1	0	0	0	0	1	0	0	0	9718	594	21	4	674	4	MMP9	20	44639788	Missense_Mutation	SNP	C	TCGA-KK-A59X-01A-11D-A29Q-08	40953226	44639788	18385732	57	12772											
DDX17	10521	broad.mit.edu	37	chr22	38883946	38883946	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttttggattgatagcctgaTtggcctcttccagcactttg	6	16	10	9	0	1	2	0	2	1	0	2	3	2	3	3	2	2	2	3	2	1	7			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chr22:38883946T>C	ENST00000396821.3	-	12	1721	c.1622A>G	c.(1621-1623)aAt>aGt	p.N541S	DDX17_ENST00000444597.1_5'UTR|DDX17_ENST00000381633.3_Missense_Mutation_p.N464S	NM_001098504.1|NM_006386.4	NP_001091974.1|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	462					RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					GATAGCCTGATTGGCCTCTTC	0.547													77	103					0	0	1	0	0	C	38883946	T	C	38883946	3	2	243	1	0	0	0	0	1	0	0	0	4367	1493	52	3	581	3	DDX17	22	38883946	Missense_Mutation	SNP	T	TCGA-KK-A59X-01A-11D-A29Q-08		38883946	12420620	58	12773											
BCOR	54880	broad.mit.edu	37	chrX	39933375	39933375	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	accgctgtcttccgggcatgCccgggcactggctgggcacc	4	7	14	16	3	1	0	0	0	1	0	2	0	2	0	4	4	1	5	4	4	0	1			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chrX:39933375C>T	ENST00000342274.4	-	4	1586	c.1224G>A	c.(1222-1224)ggG>ggA	p.G408G	BCOR_ENST00000378444.4_Silent_p.G408G|BCOR_ENST00000397354.3_Silent_p.G408G|BCOR_ENST00000378455.4_Silent_p.G408G	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	408					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TCCGGGCATGCCCGGGCACTG	0.582			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						3	29					0	0	1	0	0	T	39933375	C	T	39933375	2	4	243	1	0	0	0	0	0	0	0	1	1384	726	26	2		2	BCOR	23	39933375	Silent	SNP	C	TCGA-KK-A59X-01A-11D-A29Q-08		39933375	115337185	59	12774											
TCEAL3	85012	broad.mit.edu	37	chrX	102864068	102864068	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagatgaagtagagcctgatGatgaaggaaagtcagacgag	17	6	14	4	1	1	7	1	4	0	3	1	9	1	8	1	1	1	1	1	1	5	1			TCGA-KK-A59X-01A-11D-A29Q-08	TCGA-KK-A59X-11A-21D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f555699-002c-43d7-b5ef-22deebbae2a5	2e17d22b-df41-4ea2-afd3-edce529c9a20	g.chrX:102864068G>A	ENST00000372628.1	+	3	434	c.76G>A	c.(76-78)Gat>Aat	p.D26N	TCEAL3_ENST00000243286.3_Missense_Mutation_p.D26N|TCEAL3_ENST00000477014.1_Intron|TCEAL3_ENST00000372627.5_Missense_Mutation_p.D26N			Q969E4	TCAL3_HUMAN	transcription elongation factor A (SII)-like 3	26	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	16						agagcctgatgatgaaggaaa	0.483													32	6					0	0	1	0	0	A	102864068	G	A	102864068	3	1	243	1	0	0	0	0	1	0	0	0	15732	1290	45	2	78	2	TCEAL3	23	102864068	Missense_Mutation	SNP	G	TCGA-KK-A59X-01A-11D-A29Q-08	62930693	102864068	52406492	60	12775											
CLCNKB	1188	broad.mit.edu	37	chr1	16376374	16376374	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatcttctttggcttcatcAggaacaataggttcagctcc	10	13	8	10	0	5	0	3	0	2	0	6	2	6	1	1	3	2	3	1	3	4	5			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr1:16376374A>T	ENST00000375679.4	+	10	1042	c.931A>T	c.(931-933)Agg>Tgg	p.R311W	CLCNKB_ENST00000375667.3_Missense_Mutation_p.R142W	NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		TGGCTTCATCAGGAACAATAG	0.607													38	79					0	0	1	0	0	T	16376374	A	T	16376374	3	4	244	1	0	0	0	0	1	0	0	0	3493	179	7	5	1113	5	CLCNKB	1	16376374	Missense_Mutation	SNP	A	TCGA-KK-A59Y-01A-11D-A26M-08		16376374	232874247	1	12776											
C1orf50	79078	broad.mit.edu	37	chr1	43233015	43233015	+	Frame_Shift_Del	DEL	G	G	-																															gccgcgccggggcggaccgaGggggtccttgaaaggcaagg																										TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr1:43233015delG	ENST00000372525.5	+	1	76	c.33delG	c.(31-33)gafs	p.E11fs	C1orf50_ENST00000536543.1_5'UTR	NM_024097.3	NP_077002.2	Q9BV19	CA050_HUMAN	chromosome 1 open reading frame 50	11										large_intestine(2)|ovary(1)|pancreas(1)	4	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGCGGACCGAGGGGGTCCTTG	0.701													2	4	---	---	---	---						-	43233015	G	-	43233015	7	5	244	1	0	1	0	1	0	0	0	0	2056	991	35	0	35	0	C1orf50	1	43233015	Frame_Shift_Del	DEL	G	TCGA-KK-A59Y-01A-11D-A26M-08	26856641	43233015	206017606	2	12777											
USH2A	7399	broad.mit.edu	37	chr1	216420426	216420426	+	Frame_Shift_Del	DEL	T	T	-																															cactgaagtcctttggcttcTtttttgcactcacactgccc																										TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr1:216420426delT	ENST00000366943.2	-	13	2696	c.2310delA	c.(2308-2310)aafs	p.K770fs	USH2A_ENST00000307340.3_Frame_Shift_Del_p.K770fs|USH2A_ENST00000366942.3_Frame_Shift_Del_p.K770fs			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	770	Laminin EGF-like 5.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTTTGGCTTCTTTTTTGCACT	0.473										HNSCC(13;0.011)			22	66	---	---	---	---						-	216420426	T	-	216420426	7	5	244	1	0	1	0	1	0	0	0	0	17096	1606	56	0	13552	0	USH2A	1	216420426	Frame_Shift_Del	DEL	T	TCGA-KK-A59Y-01A-11D-A26M-08	173187411	216420426	32830195	3	12778											
MEGF10	84466	broad.mit.edu	37	chr5	126784895	126784895	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggctgactggaaacatggCggctacctcaacgagctcgg	9	6	13	13	4	1	1	1	1	0	0	2	3	1	2	2	5	4	3	2	5	3	1			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr5:126784895C>T	ENST00000274473.6	+	23	3228	c.2961C>T	c.(2959-2961)ggC>ggT	p.G987G	MEGF10_ENST00000503335.2_Silent_p.G987G|MEGF10_ENST00000510828.1_3'UTR	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	987	Necessary for formation of large intracellular vacuoles.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		GGAAACATGGCGGCTACCTCA	0.527													10	76					0	0	1	0	0	T	126784895	C	T	126784895	2	4	244	1	0	0	0	0	0	0	0	1	9510	755	27	1		1	MEGF10	5	126784895	Silent	SNP	C	TCGA-KK-A59Y-01A-11D-A26M-08		126784895	54130365	4	12779											
DAAM2	23500	broad.mit.edu	37	chr6	39869739	39869739	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggacttatgcaagctcaagCgcagccgcaagcgatcaggg	12	5	13	11	3	2	0	2	0	0	0	2	2	2	1	1	2	5	4	1	2	4	1			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr6:39869739C>T	ENST00000538976.1	+	25	3312	c.3130C>T	c.(3130-3132)Cgc>Tgc	p.R1044C	DAAM2_ENST00000398904.2_Missense_Mutation_p.R1045C|DAAM2_ENST00000274867.4_Missense_Mutation_p.R1045C	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	1045	DAD.				actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					CAAGCTCAAGCGCAGCCGCAA	0.612													21	26					0	0	1	0	0	T	39869739	C	T	39869739	3	4	244	1	0	0	0	0	1	0	0	0	4240	768	27	1	3224	1	DAAM2	6	39869739	Missense_Mutation	SNP	C	TCGA-KK-A59Y-01A-11D-A26M-08		39869739	131245328	5	12780											
RUNX2	860	broad.mit.edu	37	chr6	45390463	45390463	+	Silent	SNP	G	G	A																															caacagcagcagcagcagcaGcaacagcagcagcagcagca																										TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr6:45390463G>A	ENST00000371438.1	+	2	550	c.192G>A	c.(190-192)caG>caA	p.Q64Q	RUNX2_ENST00000576263.1_Silent_p.Q64Q|RUNX2_ENST00000371436.6_Silent_p.Q64Q|RUNX2_ENST00000541979.1_Silent_p.Q132Q|RUNX2_ENST00000352853.5_Silent_p.Q132Q|RUNX2_ENST00000465038.2_Silent_p.Q64Q|RUNX2_ENST00000359524.5_Silent_p.Q50Q|RUNX2_ENST00000371432.3_Silent_p.Q50Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	64	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcagcaacagcagc	0.736													5	24					0	0	1	0	0	A	45390463	G	A	45390463	2	1	244	1	0	0	0	0	0	0	0	1	13800	962	34	2		2	RUNX2	6	45390463	Silent	SNP	G	TCGA-KK-A59Y-01A-11D-A26M-08	5520724	45390463	125724604	6	12781	63	2									
RUNX2	860	broad.mit.edu	37	chr6	45390466	45390466	+	Silent	SNP	A	A	G																															cagcagcagcagcagcagcaAcagcagcagcagcagcagga																										TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr6:45390466A>G	ENST00000371438.1	+	2	553	c.195A>G	c.(193-195)caA>caG	p.Q65Q	RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	65	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcaacagcagcagc	0.731													5	22					0	0	1	0	0	G	45390466	A	G	45390466	2	3	244	1	0	0	0	0	0	0	0	1	13800	40	2	3		3	RUNX2	6	45390466	Silent	SNP	A	TCGA-KK-A59Y-01A-11D-A26M-08	3	45390466	125724601	7	12782	63	2									
EGFR	1956	broad.mit.edu	37	chr7	55223567	55223567	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctcgtgcgtccgagcctgtGgggccgacagctatgagatg	6	8	16	11	4	0	1	0	1	0	1	2	4	1	1	3	2	3	2	3	2	1	1			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr7:55223567G>T	ENST00000275493.2	+	8	1111	c.934G>T	c.(934-936)Ggg>Tgg	p.G312W	EGFR_ENST00000342916.3_Missense_Mutation_p.G312W|EGFR_ENST00000420316.2_Missense_Mutation_p.G312W|EGFR_ENST00000442591.1_Missense_Mutation_p.G312W|EGFR_ENST00000455089.1_Missense_Mutation_p.G267W|EGFR_ENST00000454757.2_Missense_Mutation_p.G259W|EGFR_ENST00000344576.2_Missense_Mutation_p.G312W	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	312					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CCGAGCCTGTGGGGCCGACAG	0.607		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			65	61					7.73544e-29	8.5497e-29	1	1	0	T	55223567	G	T	55223567	3	4	244	1	0	0	0	0	1	0	0	0	4993	1348	47	4	964	4	EGFR	7	55223567	Missense_Mutation	SNP	G	TCGA-KK-A59Y-01A-11D-A26M-08		55223567	103915096	8	12783											
DHTKD1	55526	broad.mit.edu	37	chr10	12111037	12111037	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggacatctggtgaacatggCctctgctactgcggcagcag	8	8	14	11	1	2	1	0	1	2	0	2	2	2	2	1	4	5	3	1	4	2	1			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr10:12111037C>T	ENST00000263035.4	+	1	67	c.5C>T	c.(4-6)gCc>gTc	p.A2V		NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	2					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			GTGAACATGGCCTCTGCTACT	0.697													11	11					0	0	1	0	0	T	12111037	C	T	12111037	3	4	244	1	0	0	0	0	1	0	0	0	4528	739	26	2	7	2	DHTKD1	10	12111037	Missense_Mutation	SNP	C	TCGA-KK-A59Y-01A-11D-A26M-08		12111037	123423710	9	12784											
MYOF	26509	broad.mit.edu	37	chr10	95159250	95159250	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgtctgtgagaaggcatcatCcactggaaggtaatagttat	12	12	11	6	0	2	1	1	1	1	1	3	3	3	2	1	3	0	3	1	3	5	3			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr10:95159250C>T	ENST00000371501.4	-	13	1242	c.1120G>A	c.(1120-1122)Gat>Aat	p.D374N	MYOF_ENST00000358334.5_Missense_Mutation_p.D374N|MYOF_ENST00000359263.4_Missense_Mutation_p.D374N|MYOF_ENST00000371489.1_Missense_Mutation_p.D374N|MYOF_ENST00000371502.4_Missense_Mutation_p.D374N			Q9NZM1	MYOF_HUMAN	myoferlin	374	C2 3.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AAGGCATCATCCACTGGAAGG	0.338													4	8					0	0	1	0	0	T	95159250	C	T	95159250	3	4	244	1	0	0	0	0	1	0	0	0	10137	855	30	2	5233	2	MYOF	10	95159250	Missense_Mutation	SNP	C	TCGA-KK-A59Y-01A-11D-A26M-08	83048213	95159250	40375497	10	12785											
PHRF1	57661	broad.mit.edu	37	chr11	608013	608013	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccccgagaggtctggccccGgcctcctgccctctgagatc	4	7	12	18	2	2	2	0	1	2	2	4	4	3	2	7	3	1	0	7	3	0	0			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr11:608013G>A	ENST00000264555.5	+	14	2685	c.2557G>A	c.(2557-2559)Ggc>Agc	p.G853S	PHRF1_ENST00000416188.2_Missense_Mutation_p.G852S|PHRF1_ENST00000533464.1_Missense_Mutation_p.G849S|PHRF1_ENST00000413872.2_Missense_Mutation_p.G851S	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	853							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GTCTGGCCCCGGCCTCCTGCC	0.667													49	64					0	0	1	0	0	A	608013	G	A	608013	3	1	244	1	0	0	0	0	1	0	0	0	11909	1116	39	1	2604	1	PHRF1	11	608013	Missense_Mutation	SNP	G	TCGA-KK-A59Y-01A-11D-A26M-08		608013	134398503	11	12786											
MUC6	4588	broad.mit.edu	37	chr11	1025072	1025072	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgaagttgccacacaagccGcagaggggatcctgcagacg	11	6	13	11	2	0	3	0	1	0	2	1	4	1	4	3	2	3	3	3	2	2	2			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr11:1025072G>T	ENST00000421673.2	-	24	3047	c.2997C>A	c.(2995-2997)tgC>tgA	p.C999*		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	999	VWFD 3.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CACACAAGCCGCAGAGGGGAT	0.647													14	24					3.27435e-08	3.52623e-08	1	1	0	T	1025072	G	T	1025072	4	4	244	1	0	0	0	0	0	1	0	0	10028	1079	38	4	4362	4	MUC6	11	1025072	Nonsense_Mutation	SNP	G	TCGA-KK-A59Y-01A-11D-A26M-08	417059	1025072	133981444	12	12787											
NELL1	4745	broad.mit.edu	37	chr11	21135236	21135236	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actgtgtcccaggatacattCgtgtggatgacttctcttgt	7	15	10	9	1	1	1	0	1	1	0	4	3	2	3	1	2	1	0	1	2	1	4			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr11:21135236C>T	ENST00000298925.5	+	14	1639	c.1486C>T	c.(1486-1488)Cgt>Tgt	p.R496C	NELL1_ENST00000532434.1_Missense_Mutation_p.R468C|NELL1_ENST00000357134.5_Missense_Mutation_p.R468C|NELL1_ENST00000325319.5_Missense_Mutation_p.R411C			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	468	EGF-like 3.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						AGGATACATTCGTGTGGATGA	0.403													16	49					0	0	1	0	0	T	21135236	C	T	21135236	3	4	244	1	0	0	0	0	1	0	0	0	10380	884	31	1	1452	1	NELL1	11	21135236	Missense_Mutation	SNP	C	TCGA-KK-A59Y-01A-11D-A26M-08	20110164	21135236	113871280	13	12788											
RNF121	55298	broad.mit.edu	37	chr11	71671926	71671926	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggaagcagaggcacccaCgctcctacaatgtaagccac	13	5	10	13	1	0	1	0	0	0	1	1	2	1	2	3	2	3	4	3	2	4	2			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr11:71671926C>T	ENST00000361756.3	+	3	593	c.232C>T	c.(232-234)Cgc>Tgc	p.R78C	RNF121_ENST00000393713.3_Missense_Mutation_p.R46C|RNF121_ENST00000545854.1_5'UTR|RNF121_ENST00000490867.1_3'UTR|RNF121_ENST00000533380.1_Missense_Mutation_p.R46C|RNF121_ENST00000530137.1_Missense_Mutation_p.R46C	NM_018320.4	NP_060790.2	Q9H920	RN121_HUMAN	ring finger protein 121	78						integral to membrane	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|urinary_tract(1)	13						GAGGCACCCACGCTCCTACAA	0.537													18	29					0	0	1	0	0	T	71671926	C	T	71671926	3	4	244	1	0	0	0	0	1	0	0	0	13483	536	19	1	242	1	RNF121	11	71671926	Missense_Mutation	SNP	C	TCGA-KK-A59Y-01A-11D-A26M-08	50536690	71671926	63334590	14	12789											
GRIN2B	2904	broad.mit.edu	37	chr12	13716879	13716879	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tctcgtcaaactccctgcggGacttggccgaggcaggccgc	6	7	13	15	4	2	0	1	0	1	0	4	2	3	1	3	4	2	1	3	4	1	1			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr12:13716879G>A	ENST00000279593.3	-	13	3502	c.3293C>T	c.(3292-3294)tCc>tTc	p.S1098F		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1098					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CTCCCTGCGGGACTTGGCCGA	0.622													13	38					0	0	1	0	0	A	13716879	G	A	13716879	3	1	244	1	0	0	0	0	1	0	0	0	6821	1174	41	2	1165	2	GRIN2B	12	13716879	Missense_Mutation	SNP	G	TCGA-KK-A59Y-01A-11D-A26M-08		13716879	120135016	15	12790											
ABCC4	10257	broad.mit.edu	37	chr13	95858797	95858797	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacaccaacctggattcttcGgatgctgacgattgcctctg	8	11	10	12	2	2	1	0	1	2	0	3	5	2	3	3	2	3	1	3	2	1	3			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr13:95858797G>A	ENST00000376887.4	-	8	1264	c.1150C>T	c.(1150-1152)Cga>Tga	p.R384*	ABCC4_ENST00000431522.1_Nonsense_Mutation_p.R384*|ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000536256.1_Nonsense_Mutation_p.R309*|ABCC4_ENST00000412704.1_Nonsense_Mutation_p.R384*	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	384					platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	TGGATTCTTCGGATGCTGACG	0.483													10	33					0	0	1	0	0	A	95858797	G	A	95858797	4	1	244	1	0	0	0	0	0	1	0	0	55	1124	39	1	2972	1	ABCC4	13	95858797	Nonsense_Mutation	SNP	G	TCGA-KK-A59Y-01A-11D-A26M-08		95858797	19311081	16	12791											
ALKBH1	8846	broad.mit.edu	37	chr14	78174327	78174327	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagtcgccacagagcccacGgccgctgccatcttccccat	8	6	9	18	3	1	2	0	0	1	2	3	2	2	2	6	1	2	1	6	1	0	1			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr14:78174327G>A	ENST00000216489.3	-	1	36	c.21C>T	c.(19-21)gcC>gcT	p.A7A		NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	7					DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		CAGAGCCCACGGCCGCTGCCA	0.637													23	28					0	0	1	0	0	A	78174327	G	A	78174327	2	1	244	1	0	0	0	0	0	0	0	1	522	1103	39	1		1	ALKBH1	14	78174327	Silent	SNP	G	TCGA-KK-A59Y-01A-11D-A26M-08		78174327	29175213	17	12792											
CHRNA7	1139	broad.mit.edu	37	chr15	32460275	32460275	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggagatgagcgccgtggcGccgccgcccgccagcaacgg	6	3	17	15	7	0	2	0	1	0	1	0	3	0	2	5	3	3	1	5	3	1	0			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr15:32460275G>A	ENST00000306901.3	+	10	1222	c.1125G>A	c.(1123-1125)gcG>gcA	p.A375A	CHRNA7_ENST00000455693.2_Silent_p.A194A|CHRNA7_ENST00000454250.3_Silent_p.A404A	NM_000746.5	NP_000737.1	P36544	ACHA7_HUMAN	cholinergic receptor, nicotinic, alpha 7 (neuronal)	375				A -> G (in Ref. 1; CAA49778).	activation of MAPK activity|calcium ion transport|cellular calcium ion homeostasis|memory|negative regulation of tumor necrosis factor production|positive regulation of angiogenesis|positive regulation of cell proliferation|response to hypoxia|response to nicotine	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|beta-amyloid binding|chloride channel regulator activity|nicotinic acetylcholine-activated cation-selective channel activity|protein homodimerization activity|toxin binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(2)	12		all_lung(180;6.35e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	Nicotine(DB00184)|Varenicline(DB01273)	GCGCCGTGGCGCCGCCGCCCG	0.706													24	61					0	0	1	0	0	A	32460275	G	A	32460275	2	1	244	1	0	0	0	0	0	0	0	1	3410	1074	38	1		1	CHRNA7	15	32460275	Silent	SNP	G	TCGA-KK-A59Y-01A-11D-A26M-08		32460275	70071117	18	12793											
FHOD1	29109	broad.mit.edu	37	chr16	67270959	67270959	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaaggctttcgtcgttccCgccgcccaccagcgcctggg	6	7	12	16	5	0	1	0	0	0	1	3	1	1	1	5	2	1	2	5	2	2	2			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr16:67270959C>T	ENST00000258201.4	-	10	1299	c.1052G>A	c.(1051-1053)cGg>cAg	p.R351Q	FHOD1_ENST00000567687.1_Intron	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	351	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		TCGTCGTTCCCGCCGCCCACC	0.617													46	64					0	0	1	0	0	T	67270959	C	T	67270959	3	4	244	1	0	0	0	0	1	0	0	0	5915	652	23	1	2494	1	FHOD1	16	67270959	Missense_Mutation	SNP	C	TCGA-KK-A59Y-01A-11D-A26M-08		67270959	23083794	19	12794											
POLR2A	5430	broad.mit.edu	37	chr17	7412414	7412414	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcctgactttgatgtggcccGaatctccccctggctgttgc	4	12	11	14	1	1	2	0	2	1	0	2	3	1	2	4	2	1	2	4	2	1	2			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr17:7412414G>A	ENST00000322644.6	+	21	4016	c.3617G>A	c.(3616-3618)cGa>cAa	p.R1206Q		NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1206					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				GATGTGGCCCGAATCTCCCCC	0.537													3	24					0	0	1	0	0	A	7412414	G	A	7412414	3	1	244	1	0	0	0	0	1	0	0	0	12262	1058	37	1	3699	1	POLR2A	17	7412414	Missense_Mutation	SNP	G	TCGA-KK-A59Y-01A-11D-A26M-08		7412414	73782796	20	12795											
SLC16A6	9120	broad.mit.edu	37	chr17	66266980	66266980	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attttgtgtatttaaattacCtgcaaggggcggtccagcca	10	13	10	8	1	0	0	0	0	0	0	1	0	1	0	3	3	3	2	3	3	5	6			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr17:66266980C>T	ENST00000327268.4	-	6	1485	c.1321_splice	c.e6+1	p.G441_splice	SLC16A6_ENST00000580666.1_Splice_Site_p.G441_splice|ARSG_ENST00000448504.2_Intron	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	441						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	TTTAAATTACCTGCAAGGGGC	0.433													8	16					0	0	1	0	0	T	66266980	C	T	66266980	5	4	244	1	0	0	0	0	0	0	1	0	14467	695	24	2	258	2	SLC16A6	17	66266980	Splice_Site	SNP	C	TCGA-KK-A59Y-01A-11D-A26M-08	58854566	66266980	14928230	21	12796											
TMEM200C	645369	broad.mit.edu	37	chr18	5891983	5891983	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttcttggctttccgcttgCgcttgggtatctggcttggg	1	17	13	10	2	3	0	0	0	3	0	4	0	4	0	1	4	1	5	1	4	1	7			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr18:5891983C>T	ENST00000581347.1	-	3	725	c.80G>A	c.(79-81)cGc>cAc	p.R27H	RP11-945C19.4_ENST00000577694.1_RNA|TMEM200C_ENST00000383490.2_Missense_Mutation_p.R27H			A6NKL6	T200C_HUMAN	transmembrane protein 200C	27						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						TTTCCGCTTGCGCTTGGGTAT	0.612													15	17					0	0	1	0	0	T	5891983	C	T	5891983	3	4	244	1	0	0	0	0	1	0	0	0	16185	768	27	1	1789	1	TMEM200C	18	5891983	Missense_Mutation	SNP	C	TCGA-KK-A59Y-01A-11D-A26M-08		5891983	72185265	22	12797											
SLC35E1	79939	broad.mit.edu	37	chr19	16664638	16664638	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcttctccagtgggctcCggtgacgctccttgctgctc	2	11	14	14	2	1	1	0	1	1	0	5	1	3	1	3	4	2	5	3	4	0	2	rs147619010		TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr19:16664638C>T	ENST00000595753.1	-	6	1102	c.1085G>A	c.(1084-1086)cGg>cAg	p.R362Q	CTD-3222D19.2_ENST00000409035.1_3'UTR	NM_024881.4	NP_079157.3	Q96K37	S35E1_HUMAN	solute carrier family 35, member E1	362					transport	integral to membrane				central_nervous_system(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(2)|ovary(1)	15						CAGTGGGCTCCGGTGACGCTC	0.587													23	45					0	0	1	0	0	T	16664638	C	T	16664638	3	4	244	1	0	0	0	0	1	0	0	0	14639	652	23	1	151	1	SLC35E1	19	16664638	Missense_Mutation	SNP	C	TCGA-KK-A59Y-01A-11D-A26M-08		16664638	42464345	23	12798											
ZNF208	7757	broad.mit.edu	37	chr19	22157142	22157142	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaggctttgccacattcttTacatctgtagggtttctctc	8	16	7	10	0	3	0	0	0	3	0	5	0	3	0	1	2	2	3	1	2	3	6	rs61748347		TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr19:22157142T>G	ENST00000397126.4	-	4	842	c.694A>C	c.(694-696)Aaa>Caa	p.K232Q	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CCACATTCTTTACATCTGTAG	0.383													15	24					0	0	1	0	0	G	22157142	T	G	22157142	3	3	244	1	0	0	0	0	1	0	0	0	17824	1763	61	5	3152	5	ZNF208	19	22157142	Missense_Mutation	SNP	T	TCGA-KK-A59Y-01A-11D-A26M-08	5492504	22157142	36971841	24	12799											
NTN5	126147	broad.mit.edu	37	chr19	49167879	49167879	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ataggctggctagggtccctCcagaacccaggttggcagta	9	8	13	11	0	0	1	0	0	0	1	2	1	2	1	3	5	1	5	3	5	4	4			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr19:49167879C>A	ENST00000270235.4	-	3	872	c.777G>T	c.(775-777)tgG>tgT	p.W259C	SEC1P_ENST00000430145.2_RNA	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN	netrin 5	259	Laminin EGF-like 2.					extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						TAGGGTCCCTCCAGAACCCAG	0.667													3	25					0.004672	0.00478595	1	1	0	A	49167879	C	A	49167879	3	1	244	1	0	0	0	0	1	0	0	0	10751	856	30	4	712	4	NTN5	19	49167879	Missense_Mutation	SNP	C	TCGA-KK-A59Y-01A-11D-A26M-08	27010737	49167879	9961104	25	12800											
ZNF628	89887	broad.mit.edu	37	chr19	55994210	55994210	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaaggccttccgcaacacGtcgtgcctgcgtcgccaccg	6	6	12	17	6	0	0	0	0	0	0	3	0	1	0	5	2	3	2	5	2	2	1			TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr19:55994210G>A	ENST00000598519.1	+	3	2203	c.1650G>A	c.(1648-1650)acG>acA	p.T550T	ZNF628_ENST00000391718.2_Silent_p.T546T	NM_033113.2	NP_149104.3	Q5EBL2	ZN628_HUMAN	zinc finger protein 628	546						nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		TCCGCAACACGTCGTGCCTGC	0.682													9	16					0	0	1	0	0	A	55994210	G	A	55994210	2	1	244	1	0	0	0	0	0	0	0	1	18109	1132	40	1		1	ZNF628	19	55994210	Silent	SNP	G	TCGA-KK-A59Y-01A-11D-A26M-08	6826331	55994210	3134773	26	12801											
CHD6	0	broad.mit.edu	37	chr20	40141606	40141607	+	In_Frame_Ins	INS	-	-	GCTTTA																															gtcctcattgtattttctgcINSgctttacttgccttcccgag																										TCGA-KK-A59Y-01A-11D-A26M-08	TCGA-KK-A59Y-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f150d1e-e7b6-4c8b-a4bd-2b2d5c80b088	ddec5241-9e83-475b-80aa-fc72dd813f38	g.chr20:40141606_40141607insGCTTTA	ENST00000373233.3	-	5	907_908	c.730_731insTAAAGC	c.(730-732)cag>TAAAGCcag	p.243_244ins*S	CHD6_ENST00000373222.3_In_Frame_Ins_p.278_279ins*S|CHD6_ENST00000309279.7_In_Frame_Ins_p.243_244ins*S	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	243					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GTATTTTCTGCGCTTTACTTGC	0.49													57	243	---	---	---	---						GCTTTA	40141607	-	GCTTTA	40141606	7	5	244	1	0	1	1	0	0	0	0	0	3351	768	27	0	7548	0	CHD6	20	40141606	In_Frame_Ins	INS	-	TCGA-KK-A59Y-01A-11D-A26M-08		40141606	22883914	27	12802											
PLEKHA6	22874	broad.mit.edu	37	chr1	204236639	204236639	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcagcgatccaccaggacgaAccagcgcttgttccactgct	9	7	10	15	3	0	0	0	0	0	0	2	3	2	1	4	1	4	4	4	1	1	2			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr1:204236639A>G	ENST00000272203.3	-	5	560	c.244T>C	c.(244-246)Ttc>Ctc	p.F82L	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.F82L	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	82	PH.									breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			ACCAGGACGAACCAGCGCTTG	0.587													17	55					0	0	1	0	0	G	204236639	A	G	204236639	3	3	245	1	0	0	0	0	1	0	0	0	12108	43	2	3	2974	3	PLEKHA6	1	204236639	Missense_Mutation	SNP	A	TCGA-KK-A59Z-01A-12D-A26M-08		204236639	45013982	1	12803											
OR2T35	403244	broad.mit.edu	37	chr1	248801912	248801912	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaggatgtgcgtgtaggaCacagagatgacagatagagg	14	6	17	4	1	0	4	0	1	0	3	0	8	0	7	0	4	1	1	0	4	2	2	rs146851066	by1000genomes	TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr1:248801912C>G	ENST00000317450.3	-	1	647	c.648G>C	c.(646-648)gtG>gtC	p.V216V		NM_001001827.1	NP_001001827.1	Q8NGX2	O2T35_HUMAN	olfactory receptor, family 2, subfamily T, member 35	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V216V(1)		endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	6	all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCGTGTAGGACACAGAGATGA	0.542													3	20					0	0	1	0	0	G	248801912	C	G	248801912	2	3	245	1	0	0	0	0	0	0	0	1	11074	465	17	4		4	OR2T35	1	248801912	Silent	SNP	C	TCGA-KK-A59Z-01A-12D-A26M-08	44565273	248801912	448709	2	12804											
LRRFIP1	9208	broad.mit.edu	37	chr2	238668784	238668784	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcaataatgttggataccaAggtcctaccaagatgacaaa	16	9	7	9	0	1	2	1	1	0	1	2	3	2	3	3	2	2	1	3	2	7	4			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr2:238668784A>G	ENST00000244815.5	+	9	993	c.753A>G	c.(751-753)caA>caG	p.Q251Q	LRRFIP1_ENST00000392000.4_Silent_p.Q275Q|LRRFIP1_ENST00000289175.6_Silent_p.Q219Q|LRRFIP1_ENST00000308482.9_Silent_p.Q465Q	NM_004735.3	NP_004726.2	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	275					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		TTGGATACCAAGGTCCTACCA	0.433													20	45					0	0	1	0	0	G	238668784	A	G	238668784	2	3	245	1	0	0	0	0	0	0	0	1	9072	69	3	3		3	LRRFIP1	2	238668784	Silent	SNP	A	TCGA-KK-A59Z-01A-12D-A26M-08		238668784	4530589	3	12805											
METTL6	131965	broad.mit.edu	37	chr3	15467811	15467811	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacctctctacatgatcttaGctcctcaaactctctggtgg	8	14	6	13	0	4	1	1	1	3	0	7	1	5	1	2	2	4	1	2	2	4	3			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr3:15467811G>C	ENST00000443029.1	-	2	448	c.208C>G	c.(208-210)Cta>Gta	p.L70V	METTL6_ENST00000383789.5_Missense_Mutation_p.L70V|METTL6_ENST00000383790.3_Missense_Mutation_p.L70V|METTL6_ENST00000450816.2_Missense_Mutation_p.L70V			Q8TCB7	METL6_HUMAN	methyltransferase like 6	70							methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(9)|lung(3)|prostate(1)	15						CATGATCTTAGCTCCTCAAAC	0.398													9	51					0	0	1	0	0	C	15467811	G	C	15467811	3	2	245	1	0	0	0	0	1	0	0	0	9554	962	34	4	666	4	METTL6	3	15467811	Missense_Mutation	SNP	G	TCGA-KK-A59Z-01A-12D-A26M-08		15467811	182554619	4	12806											
SCN10A	6336	broad.mit.edu	37	chr3	38755487	38755487	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaaagagcccgcagtggccGcagagcgcgaagggttcgaa	12	3	16	10	5	0	3	0	0	0	3	1	5	0	3	2	2	2	3	2	2	3	1			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr3:38755487G>A	ENST00000449082.2	-	21	3765	c.3766C>T	c.(3766-3768)Cgg>Tgg	p.R1256W		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1256					sensory perception	voltage-gated sodium channel complex		p.R1256W(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CGCAGTGGCCGCAGAGCGCGA	0.527													60	88					0	0	1	0	0	A	38755487	G	A	38755487	3	1	245	1	0	0	0	0	1	0	0	0	13966	1086	38	1	2132	1	SCN10A	3	38755487	Missense_Mutation	SNP	G	TCGA-KK-A59Z-01A-12D-A26M-08	23287676	38755487	159266943	5	12807											
C3orf17	25871	broad.mit.edu	37	chr3	112732806	112732806	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaccacttacttacttggaaGaaaacaactcaaacaggtct	16	9	6	10	0	2	1	1	0	1	1	2	3	2	2	1	2	5	0	1	2	7	3			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr3:112732806G>A	ENST00000314400.5	-	3	526	c.335C>T	c.(334-336)tCt>tTt	p.S112F	C3orf17_ENST00000393857.2_5'UTR|C3orf17_ENST00000383675.2_Missense_Mutation_p.S112F	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN	chromosome 3 open reading frame 17	112						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						TTACTTGGAAGAAAACAACTC	0.408													84	133					0	0	1	0	0	A	112732806	G	A	112732806	3	1	245	1	0	0	0	0	1	0	0	0	2224	942	33	2	1396	2	C3orf17	3	112732806	Missense_Mutation	SNP	G	TCGA-KK-A59Z-01A-12D-A26M-08	73977319	112732806	85289624	6	12808											
TF	7018	broad.mit.edu	37	chr3	133465321	133465321	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccctgctggtctgcgccGtcctgggtgagtgcgggcac	3	8	17	13	3	1	1	0	1	1	0	2	2	2	1	3	3	4	2	3	3	0	0			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr3:133465321G>A	ENST00000402696.3	+	1	522	c.37G>A	c.(37-39)Gtc>Atc	p.V13I	TF_ENST00000264998.3_5'UTR|TFP1_ENST00000460564.1_RNA	NM_001063.3	NP_001054.1	P02787	TRFE_HUMAN	transferrin	13					cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	GGTCTGCGCCGTCCTGGGTGA	0.736													3	25					0	0	1	0	0	A	133465321	G	A	133465321	3	1	245	1	0	0	0	0	1	0	0	0	15845	1145	40	1	39	1	TF	3	133465321	Missense_Mutation	SNP	G	TCGA-KK-A59Z-01A-12D-A26M-08	20732515	133465321	64557109	7	12809											
TFDP2	7029	broad.mit.edu	37	chr3	141671514	141671514	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgctaaggccacttctgcAtccaagcataacccttggtt	9	12	8	12	0	1	0	0	0	1	0	2	0	2	0	3	2	4	5	3	2	3	6			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr3:141671514A>T	ENST00000499676.2	-	13	1673	c.1002T>A	c.(1000-1002)gaT>gaA	p.D334E	TFDP2_ENST00000317104.7_Missense_Mutation_p.D318E|TFDP2_ENST00000397991.4_Missense_Mutation_p.D366E|TFDP2_ENST00000310282.6_Missense_Mutation_p.D334E|TFDP2_ENST00000477292.1_Missense_Mutation_p.D258E|TFDP2_ENST00000489671.1_Missense_Mutation_p.D394E|TFDP2_ENST00000467072.1_Missense_Mutation_p.D334E|TFDP2_ENST00000486111.1_Missense_Mutation_p.D334E|TFDP2_ENST00000495310.1_Missense_Mutation_p.D297E|TFDP2_ENST00000479040.1_Missense_Mutation_p.D333E	NM_001178139.1	NP_001171610.1	Q14188	TFDP2_HUMAN	transcription factor Dp-2 (E2F dimerization partner 2)	394					cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|transcription factor binding			kidney(1)|upper_aerodigestive_tract(2)	3						CCACTTCTGCATCCAAGCATA	0.483													4	53					0	0	1	0	0	T	141671514	A	T	141671514	3	4	245	1	0	0	0	0	1	0	0	0	15858	214	8	5	162	5	TFDP2	3	141671514	Missense_Mutation	SNP	A	TCGA-KK-A59Z-01A-12D-A26M-08	8206193	141671514	56350916	8	12810											
POU4F2	5458	broad.mit.edu	37	chr4	147561671	147561671	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcccacaataatatgatcgCgctcaaacccatcctgcagg	12	8	7	14	2	1	1	1	1	0	0	4	1	3	1	3	1	2	2	3	1	4	2			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr4:147561671C>G	ENST00000281321.3	+	2	1189	c.941C>G	c.(940-942)gCg>gGg	p.A314G		NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	314	POU-specific.				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					AATATGATCGCGCTCAAACCC	0.602													18	71					0	0	1	0	0	G	147561671	C	G	147561671	3	3	245	1	0	0	0	0	1	0	0	0	12325	768	27	4	947	4	POU4F2	4	147561671	Missense_Mutation	SNP	C	TCGA-KK-A59Z-01A-12D-A26M-08		147561671	43592605	9	12811											
PCDHGA9	0	broad.mit.edu	37	chr5	140783165	140783165	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acctggtcctcacggcctcgGatggcggcgagccgcgtcgc	4	6	15	16	7	1	0	1	0	0	0	4	2	2	1	4	5	1	0	4	5	0	0			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr5:140783165G>T	ENST00000573521.1	+	1	646	c.646G>T	c.(646-648)Gat>Tat	p.D216Y	PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACGGCCTCGGATGGCGGCGA	0.597													10	52					7.48243e-07	8.04361e-07	1	1	0	T	140783165	G	T	140783165	3	4	245	1	0	0	0	0	1	0	0	0	11608	1174	41	4	648	4	PCDHGA9	5	140783165	Missense_Mutation	SNP	G	TCGA-KK-A59Z-01A-12D-A26M-08		140783165	40132095	10	12812											
CAMK2A	815	broad.mit.edu	37	chr5	149602570	149602570	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggggcaggacggagggcGccccagatctgtggaagtgg	8	5	19	9	2	1	1	0	0	1	1	1	4	1	4	2	7	0	1	2	7	1	0			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr5:149602570G>A	ENST00000348628.6	-	17	2080	c.1415C>T	c.(1414-1416)gCg>gTg	p.A472V	CAMK2A_ENST00000351010.6_5'UTR|CAMK2A_ENST00000398376.3_Missense_Mutation_p.A483V	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II alpha	472					interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GACGGAGGGCGCCCCAGATCT	0.642													62	135					0	0	1	0	0	A	149602570	G	A	149602570	3	1	245	1	0	0	0	0	1	0	0	0	2617	1087	38	1	29	1	CAMK2A	5	149602570	Missense_Mutation	SNP	G	TCGA-KK-A59Z-01A-12D-A26M-08	8819405	149602570	31312690	11	12813											
NFKBIL1	4795	broad.mit.edu	37	chr6	31526109	31526110	+	Frame_Shift_Del	DEL	GG	GG	-																															gaagagcaccccagaggagcGgggaggggcagcctctggcg																										TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr6:31526109_31526110delGG	ENST00000376148.4	+	4	981_982	c.867_868delGG	c.(865-870)gcggfs	p.AG289fs	NFKBIL1_ENST00000376145.4_Frame_Shift_Del_p.AG274fs	NM_005007.3	NP_004998.3	Q9UBC1	IKBL1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1	289					cytoplasmic sequestering of transcription factor		protein binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						CCAGAGGAGCGGGGAGGGGCAG	0.723													2	4	---	---	---	---						-	31526110	GG	-	31526109	7	5	245	1	0	1	0	1	0	0	0	0	10428	1103	39	0	881	0	NFKBIL1	6	31526109	Frame_Shift_Del	DEL	GG	TCGA-KK-A59Z-01A-12D-A26M-08		31526109	139588958	12	12814											
SYNE1	23345	broad.mit.edu	37	chr6	152646275	152646275	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttccaggatcttctcctggtCctgggccacagctcgaaggc	6	10	11	14	1	2	0	0	0	2	0	6	2	4	1	4	4	1	1	4	4	1	2			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr6:152646275C>G	ENST00000367255.5	-	81	16202	c.15601G>C	c.(15601-15603)Gac>Cac	p.D5201H	SYNE1_ENST00000448038.1_Missense_Mutation_p.D5130H|SYNE1_ENST00000265368.4_Missense_Mutation_p.D5201H|SYNE1_ENST00000341594.5_Missense_Mutation_p.D4894H|SYNE1_ENST00000423061.1_Missense_Mutation_p.D5130H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5201					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCTCCTGGTCCTGGGCCACA	0.537										HNSCC(10;0.0054)			78	79					0	0	1	0	0	G	152646275	C	G	152646275	3	3	245	1	0	0	0	0	1	0	0	0	15502	855	30	4	11129	4	SYNE1	6	152646275	Missense_Mutation	SNP	C	TCGA-KK-A59Z-01A-12D-A26M-08	121120166	152646275	18468792	13	12815											
EPDR1	54749	broad.mit.edu	37	chr7	37960746	37960746	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acagccgcgccctgctctccTacgacgggctcaaccagcgc	7	5	10	19	5	2	0	1	0	1	0	3	1	2	0	4	1	5	2	4	1	2	1			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr7:37960746T>A	ENST00000199448.4	+	1	584	c.205T>A	c.(205-207)Tac>Aac	p.Y69N	EPDR1_ENST00000476620.1_Intron|EPDR1_ENST00000423717.1_Missense_Mutation_p.Y69N|EPDR1_ENST00000559325.1_Missense_Mutation_p.Y189N	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1	69					cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						CCTGCTCTCCTACGACGGGCT	0.706													14	38					0	0	1	0	0	A	37960746	T	A	37960746	3	1	245	1	0	0	0	0	1	0	0	0	5191	1522	53	5	567	5	EPDR1	7	37960746	Missense_Mutation	SNP	T	TCGA-KK-A59Z-01A-12D-A26M-08		37960746	121177917	14	12816											
URGCP	55665	broad.mit.edu	37	chr7	43917132	43917133	+	Frame_Shift_Ins	INS	-	-	A																															gccaagcctgggaagtgggcINSaaaacgcctctggcctgccg																										TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr7:43917132_43917133insA	ENST00000336086.6	-	4	4036_4037	c.1800_1801insT	c.(1798-1803)ttcccafs	p.FP600fs	URGCP_ENST00000223341.7_Frame_Shift_Ins_p.FP600fs|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000447717.3_Frame_Shift_Ins_p.FP600fs|URGCP_ENST00000443736.1_Frame_Shift_Ins_p.FP600fs|URGCP_ENST00000402306.3_Frame_Shift_Ins_p.FP634fs|RP5-1165K10.1_ENST00000603700.1_Intron|URGCP_ENST00000453200.1_Frame_Shift_Ins_p.FP643fs			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	643					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGGAAGTGGGCAAAACGCCTCT	0.629													14	86	---	---	---	---						A	43917133	-	A	43917132	7	5	245	1	0	1	1	0	0	0	0	0	17086	710	25	0	869	0	URGCP	7	43917132	Frame_Shift_Ins	INS	-	TCGA-KK-A59Z-01A-12D-A26M-08	5956386	43917132	115221531	15	12817											
CCDC136	64753	broad.mit.edu	37	chr7	128450335	128450335	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatccacgaagagctgcgacGtttcaaagagtctcatttcc	11	10	9	11	3	2	2	2	0	1	2	5	5	4	2	2	0	2	2	2	0	2	2			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr7:128450335G>A	ENST00000297788.4	+	12	2310	c.1943G>A	c.(1942-1944)cGt>cAt	p.R648H	CCDC136_ENST00000464832.1_Intron|CCDC136_ENST00000487361.1_Intron|CCDC136_ENST00000378685.4_Intron	NM_022742.4	NP_073579.4	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	648						integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						GAGCTGCGACGTTTCAAAGAG	0.433													8	46					0	0	1	0	0	A	128450335	G	A	128450335	3	1	245	1	0	0	0	0	1	0	0	0	2788	1145	40	1	1989	1	CCDC136	7	128450335	Missense_Mutation	SNP	G	TCGA-KK-A59Z-01A-12D-A26M-08	84533203	128450335	30688328	16	12818											
SLC7A2	6542	broad.mit.edu	37	chr8	17418005	17418005	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccttctgccaacacagcaGtcagcttctctcgtgagctt	7	12	7	15	1	3	1	1	1	2	0	6	1	4	1	2	0	5	3	2	0	1	3			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr8:17418005G>A	ENST00000470360.1	+	11	1701	c.1584G>A	c.(1582-1584)caG>caA	p.Q528Q	SLC7A2_ENST00000398090.3_Silent_p.Q528Q|SLC7A2_ENST00000004531.10_Silent_p.Q529Q|SLC7A2_ENST00000522656.1_Silent_p.Q489Q|SLC7A2_ENST00000494857.1_Silent_p.Q489Q			P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	489					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	CAACACAGCAGTCAGCTTCTC	0.532													59	42					0	0	1	0	0	A	17418005	G	A	17418005	2	1	245	1	0	0	0	0	0	0	0	1	14752	1020	36	2		2	SLC7A2	8	17418005	Silent	SNP	G	TCGA-KK-A59Z-01A-12D-A26M-08		17418005	128946017	17	12819											
XPO7	23039	broad.mit.edu	37	chr8	21829421	21829421	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgcatcattggtgtcacaaTtttatctcagctaaccaatg	11	14	6	10	0	3	0	3	0	1	0	4	0	3	0	1	1	3	2	1	1	4	4			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr8:21829421T>G	ENST00000434536.1	+	5	563	c.461T>G	c.(460-462)aTt>aGt	p.I154S	XPO7_ENST00000252512.9_Missense_Mutation_p.I154S|XPO7_ENST00000433566.4_Missense_Mutation_p.I155S|XPO7_ENST00000518017.1_3'UTR			Q9UIA9	XPO7_HUMAN	exportin 7	154					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		GGTGTCACAATTTTATCTCAG	0.353													42	30					0	0	1	0	0	G	21829421	T	G	21829421	3	3	245	1	0	0	0	0	1	0	0	0	17509	1493	52	5	504	5	XPO7	8	21829421	Missense_Mutation	SNP	T	TCGA-KK-A59Z-01A-12D-A26M-08	4411416	21829421	124534601	18	12820											
ADAM28	10863	broad.mit.edu	37	chr8	24157535	24157558	+	In_Frame_Del	DEL	ATCCTATAAGACTTCATCCACTGC	ATCCTATAAGACTTCATCCACTGC	-																															gaagaagtatgaagtggtttAtcctataagacttcatccac																										TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr8:24157535_24157558delATCCTATAAGACTTCATCCACTGC	ENST00000265769.4	+	2	205_228	c.95_118delATCCTATAAGACTTCATCCACTGC	c.(94-120)tat>t	p.YPIRLHPLH32del	ADAM28_ENST00000437154.2_In_Frame_Del_p.YPIRLHPLH32del|ADAM28_ENST00000397649.3_5'UTR|ADAM28_ENST00000540823.1_5'UTR|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	32					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	p.R35I(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		GAAGTGGTTTATCCTATAAGACTTCATCCACTGCATAAAAGAGA	0.362													7	53	---	---	---	---						-	24157558	ATCCTATAAGACTTCATCCACTGC	-	24157535	7	5	245	1	0	1	0	1	0	0	0	0	245	449	16	0	101	0	ADAM28	8	24157535	In_Frame_Del	DEL	ATCCTATAAGACTTCATCCACTGC	TCGA-KK-A59Z-01A-12D-A26M-08	2328114	24157535	122206487	19	12821											
CUL2	8453	broad.mit.edu	37	chr10	35318439	35318439	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagaacatatatttgaaaacTaattcccaaatctattactg	17	14	3	7	0	1	2	0	1	1	1	2	2	2	2	1	0	3	0	1	0	10	8			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr10:35318439T>G	ENST00000374748.1	-	16	1829	c.1516A>C	c.(1516-1518)Agt>Cgt	p.S506R	CUL2_ENST00000374751.3_Missense_Mutation_p.S506R|CUL2_ENST00000374749.3_Missense_Mutation_p.S506R|CUL2_ENST00000537177.1_Missense_Mutation_p.S525R|CUL2_ENST00000374746.1_Missense_Mutation_p.S506R|CUL2_ENST00000602371.1_Missense_Mutation_p.S449R|CUL2_ENST00000374742.1_Missense_Mutation_p.S506R			Q13617	CUL2_HUMAN	cullin 2	506					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						ATTTGAAAACTAATTCCCAAA	0.318													8	15					0	0	1	0	0	G	35318439	T	G	35318439	3	3	245	1	0	0	0	0	1	0	0	0	4078	1522	53	5	749	5	CUL2	10	35318439	Missense_Mutation	SNP	T	TCGA-KK-A59Z-01A-12D-A26M-08		35318439	100216308	20	12822											
CYP2C8	1558	broad.mit.edu	37	chr10	96827440	96827440	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgaacacaggaccatagacTtttgagaactgggaaaggaa	16	7	12	6	0	0	3	0	2	0	2	0	7	0	6	1	3	2	0	1	3	5	3			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr10:96827440T>G	ENST00000371270.3	-	2	271	c.177A>C	c.(175-177)aaA>aaC	p.K59N	CYP2C8_ENST00000539050.1_5'UTR|CYP2C8_ENST00000535898.1_Intron	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	59					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	GACCATAGACTTTTGAGAACT	0.388													12	16					0	0	1	0	0	G	96827440	T	G	96827440	3	3	245	1	0	0	0	0	1	0	0	0	4190	1606	56	5	1327	5	CYP2C8	10	96827440	Missense_Mutation	SNP	T	TCGA-KK-A59Z-01A-12D-A26M-08	61509001	96827440	38707307	21	12823											
OR4A15	81328	broad.mit.edu	37	chr11	55135991	55135991	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttcctgtgtgatttgtatcCcttattgaaacttgcttgca	7	18	7	9	0	0	2	0	2	0	0	2	2	2	2	2	0	3	3	2	0	3	7			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr11:55135991C>A	ENST00000314706.3	+	1	632	c.632C>A	c.(631-633)cCc>cAc	p.P211H		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						GATTTGTATCCCTTATTGAAA	0.413													16	85					4.7546e-09	5.38021e-09	1	1	0	A	55135991	C	A	55135991	3	1	245	1	0	0	0	0	1	0	0	0	11088	623	22	4	634	4	OR4A15	11	55135991	Missense_Mutation	SNP	C	TCGA-KK-A59Z-01A-12D-A26M-08		55135991	79870525	22	12824											
OR5D13	390142	broad.mit.edu	37	chr11	55541087	55541087	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agactcaattcaaaactccaTacaatcatgtgctttttcct	13	14	3	11	0	3	1	3	0	0	1	5	1	5	1	2	0	3	1	2	0	5	4			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr11:55541087T>C	ENST00000361760.1	+	1	174	c.174T>C	c.(172-174)caT>caC	p.H58H		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				CAAAACTCCATACAATCATGT	0.403													5	92					0	0	1	0	0	C	55541087	T	C	55541087	2	2	245	1	0	0	0	0	0	0	0	1	11201	1403	49	3		3	OR5D13	11	55541087	Silent	SNP	T	TCGA-KK-A59Z-01A-12D-A26M-08	405096	55541087	79465429	23	12825											
SYT7	9066	broad.mit.edu	37	chr11	61323611	61323611	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagtggcagaggccgcagaGgacgacagtgacgctaaggc	11	3	16	11	3	0	3	0	1	0	2	0	5	0	4	2	4	0	3	2	4	1	1	rs144496851	by1000genomes	TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr11:61323611G>C	ENST00000263846.4	-	2	427	c.100C>G	c.(100-102)Ctc>Gtc	p.L34V	SYT7_ENST00000540677.1_Missense_Mutation_p.L34V|SYT7_ENST00000542836.1_Missense_Mutation_p.L34V|SYT7_ENST00000539008.1_Missense_Mutation_p.L34V|SYT7_ENST00000542670.1_Missense_Mutation_p.L34V|SYT7_ENST00000535826.1_Missense_Mutation_p.L34V	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	34						cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						AGGCCGCAGAGGACGACAGTG	0.662													13	23					0	0	1	0	0	C	61323611	G	C	61323611	3	2	245	1	0	0	0	0	1	0	0	0	15536	1000	35	4	1143	4	SYT7	11	61323611	Missense_Mutation	SNP	G	TCGA-KK-A59Z-01A-12D-A26M-08	5782524	61323611	73682905	24	12826											
TMEM151A	256472	broad.mit.edu	37	chr11	66061863	66061863	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggaagtgcctgctcctcaCgctgctcatccacgcctgcg	5	9	10	17	3	2	0	2	0	0	0	4	1	4	1	4	1	4	3	4	1	1	0			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr11:66061863C>A	ENST00000327259.4	+	2	290	c.146C>A	c.(145-147)aCg>aAg	p.T49K		NM_153266.3	NP_694998.1	Q8N4L1	T151A_HUMAN	transmembrane protein 151A	49						integral to membrane				central_nervous_system(1)|kidney(4)|lung(6)	11						CTGCTCCTCACGCTGCTCATC	0.706													33	44					2.48696e-23	2.97053e-23	1	1	0	A	66061863	C	A	66061863	3	1	245	1	0	0	0	0	1	0	0	0	16130	536	19	4	152	4	TMEM151A	11	66061863	Missense_Mutation	SNP	C	TCGA-KK-A59Z-01A-12D-A26M-08	4738252	66061863	68944653	25	12827											
PPFIBP1	8496	broad.mit.edu	37	chr12	27835611	27835611	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgatgaaggacgggttgatgGtcgaatgctacattacatga	12	11	13	5	2	0	4	0	4	0	0	1	6	0	5	0	3	3	2	0	3	4	3			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr12:27835611G>T	ENST00000318304.8	+	23	2523	c.2240G>T	c.(2239-2241)gGt>gTt	p.G747V	PPFIBP1_ENST00000542629.1_Missense_Mutation_p.G716V|PPFIBP1_ENST00000537927.1_Missense_Mutation_p.G594V|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.G741V	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193.2	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	747	SAM 2.				cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					CGGGTTGATGGTCGAATGCTA	0.448													35	77					5.71845e-15	6.64577e-15	1	1	0	T	27835611	G	T	27835611	3	4	245	1	0	0	0	0	1	0	0	0	12358	1261	44	4	2350	4	PPFIBP1	12	27835611	Missense_Mutation	SNP	G	TCGA-KK-A59Z-01A-12D-A26M-08		27835611	106016284	26	12828											
SYT10	341359	broad.mit.edu	37	chr12	33579131	33579131	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgtgcatgtttaattaaatGttcttttaaagcagtttgga	12	17	8	4	1	1	0	0	0	1	0	1	1	1	1	0	1	2	5	0	1	5	7			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr12:33579131G>A	ENST00000228567.3	-	2	747	c.451C>T	c.(451-453)Cat>Tat	p.H151Y	SYT10_ENST00000535526.1_5'UTR	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	151						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TTAATTAAATGTTCTTTTAAA	0.403													64	68					0	0	1	0	0	A	33579131	G	A	33579131	3	1	245	1	0	0	0	0	1	0	0	0	15523	1377	48	2	1144	2	SYT10	12	33579131	Missense_Mutation	SNP	G	TCGA-KK-A59Z-01A-12D-A26M-08	5743520	33579131	100272764	27	12829											
WIF1	11197	broad.mit.edu	37	chr12	65461496	65461496	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttctcacagtgaggtccgtGgaacccatcaggacactcgc	9	9	10	13	2	2	1	2	1	1	0	5	3	3	3	2	3	1	0	2	3	1	1			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr12:65461496G>T	ENST00000286574.4	-	5	987	c.613C>A	c.(613-615)Cac>Aac	p.H205N		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	205	EGF-like 1.				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity			cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		TGAGGTCCGTGGAACCCATCA	0.507			T	HMGA2	pleomorphic salivary gland adenoma								5	23					0.0215528	0.0218063	1	1	0	T	65461496	G	T	65461496	3	4	245	1	0	0	0	0	1	0	0	0	17426	1348	47	4	550	4	WIF1	12	65461496	Missense_Mutation	SNP	G	TCGA-KK-A59Z-01A-12D-A26M-08	31882365	65461496	68390399	28	12830											
STAB2	55576	broad.mit.edu	37	chr12	104134472	104134472	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctggaaggctgccgggagcGgtgcagcctggtgatacaga	8	6	17	10	2	0	2	0	1	0	1	0	4	0	4	3	5	5	2	3	5	2	1	rs139559759	by1000genomes	TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr12:104134472G>A	ENST00000388887.2	+	55	6023	c.5819G>A	c.(5818-5820)cGg>cAg	p.R1940Q		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1940					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TGCCGGGAGCGGTGCAGCCTG	0.577													22	88					0	0	1	0	0	A	104134472	G	A	104134472	3	1	245	1	0	0	0	0	1	0	0	0	15294	1116	39	1	6037	1	STAB2	12	104134472	Missense_Mutation	SNP	G	TCGA-KK-A59Z-01A-12D-A26M-08	38672976	104134472	29717423	29	12831											
OAS2	0	broad.mit.edu	37	chr12	113440906	113440906	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agccaagatccagattgtccGggtgagcactggcctttctc	8	10	11	12	1	1	3	0	1	1	2	4	3	3	3	4	2	2	1	4	2	1	2	rs150642424	byFrequency	TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr12:113440906G>A	ENST00000392583.2	+	6	1385	c.1179_splice	c.e6+1	p.R393_splice	OAS2_ENST00000342315.4_Splice_Site_p.R393_splice|RP1-71H24.1_ENST00000552784.1_RNA	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	393	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CAGATTGTCCGGGTGAGCACT	0.453													12	243					0	0	1	0	0	A	113440906	G	A	113440906	5	1	245	1	0	0	0	0	0	0	1	0	10848	1130	39	1	1271	1	OAS2	12	113440906	Splice_Site	SNP	G	TCGA-KK-A59Z-01A-12D-A26M-08	9306434	113440906	20410989	30	12832											
NOS1	4842	broad.mit.edu	37	chr12	117685282	117685282	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccacagcgtgtccgaaggcGcaaaagtgagggtatgctcg	10	7	14	10	4	0	1	0	1	0	0	3	2	2	1	2	2	2	3	2	2	4	1			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr12:117685282G>A	ENST00000317775.6	-	18	3379	c.2694C>T	c.(2692-2694)tgC>tgT	p.C898C	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Silent_p.C932C	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	898	Flavodoxin-like.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GTCCGAAGGCGCAAAAGTGAG	0.557													12	67					0	0	1	0	0	A	117685282	G	A	117685282	2	1	245	1	0	0	0	0	0	0	0	1	10588	1079	38	1		1	NOS1	12	117685282	Silent	SNP	G	TCGA-KK-A59Z-01A-12D-A26M-08	4244376	117685282	16166613	31	12833											
TUBA3C	7278	broad.mit.edu	37	chr13	19748102	19748102	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtcctcgcgggcctcagaGaactccccctcctccatgcc	6	7	9	19	2	1	1	1	0	0	1	6	2	5	1	7	2	2	0	7	2	1	0			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr13:19748102G>T	ENST00000400113.3	-	5	1358	c.1254C>A	c.(1252-1254)ttC>ttA	p.F418L		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	418					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GGGCCTCAGAGAACTCCCCCT	0.587													16	211					1.15088e-07	1.26892e-07	1	1	0	T	19748102	G	T	19748102	3	4	245	1	0	0	0	0	1	0	0	0	16808	933	33	4	102	4	TUBA3C	13	19748102	Missense_Mutation	SNP	G	TCGA-KK-A59Z-01A-12D-A26M-08		19748102	95421776	32	12834											
SACS	26278	broad.mit.edu	37	chr13	23912565	23912565	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaagtacacagaagccacGtggtacactctactgttttc	11	11	8	11	1	1	1	0	0	1	1	2	1	1	1	1	1	5	4	1	1	5	5			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr13:23912565G>A	ENST00000382298.3	-	10	6038	c.5450C>T	c.(5449-5451)aCg>aTg	p.T1817M	SACS_ENST00000402364.1_Missense_Mutation_p.T1067M|SACS_ENST00000382292.3_Missense_Mutation_p.T1817M	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	1817					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CAGAAGCCACGTGGTACACTC	0.488													31	106					0	0	1	0	0	A	23912565	G	A	23912565	3	1	245	1	0	0	0	0	1	0	0	0	13856	1145	40	1	8293	1	SACS	13	23912565	Missense_Mutation	SNP	G	TCGA-KK-A59Z-01A-12D-A26M-08	4164463	23912565	91257313	33	12835											
SACS	26278	broad.mit.edu	37	chr13	23914964	23914967	+	Frame_Shift_Del	DEL	AAGG	AAGG	-																															ttaagagaagatagattctcAaggacccataacataagctg																										TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr13:23914964_23914967delAAGG	ENST00000382298.3	-	10	3636_3639	c.3048_3051delCCTT	c.(3046-3051)gtfs	p.VL1016fs	SACS_ENST00000402364.1_Frame_Shift_Del_p.VL266fs|SACS_ENST00000382292.3_Frame_Shift_Del_p.VL1016fs	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	1016					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ATAGATTCTCAAGGACCCATAACA	0.343													35	73	---	---	---	---						-	23914967	AAGG	-	23914964	7	5	245	1	0	1	0	1	0	0	0	0	13856	117	5	0	10692	0	SACS	13	23914964	Frame_Shift_Del	DEL	AAGG	TCGA-KK-A59Z-01A-12D-A26M-08	2399	23914964	91254914	34	12836											
RXFP2	122042	broad.mit.edu	37	chr13	32371547	32371547	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcctttccctcttccgggtgGaaataccaggtcagtctctt	6	14	8	13	1	3	0	1	0	2	0	7	1	6	1	4	3	1	0	4	3	2	4			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr13:32371547G>A	ENST00000298386.2	+	17	2067	c.1996G>A	c.(1996-1998)Gaa>Aaa	p.E666K	RXFP2_ENST00000380314.1_Missense_Mutation_p.E642K	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	666						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		CTTCCGGGTGGAAATACCAGG	0.408													21	28					0	0	1	0	0	A	32371547	G	A	32371547	3	1	245	1	0	0	0	0	1	0	0	0	13812	1175	41	2	2062	2	RXFP2	13	32371547	Missense_Mutation	SNP	G	TCGA-KK-A59Z-01A-12D-A26M-08	8456583	32371547	82798331	35	12837											
PIBF1	10464	broad.mit.edu	37	chr13	73396007	73396007	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acatatgaggaagatcgaaaAaactactctgaagttcaaat	19	9	7	6	1	2	3	1	2	1	1	3	5	2	4	0	1	2	1	0	1	8	3			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr13:73396007A>G	ENST00000326291.6	+	6	1031	c.693A>G	c.(691-693)aaA>aaG	p.K231K		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	231						centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		AAGATCGAAAAAACTACTCTG	0.348													11	7					0	0	1	0	0	G	73396007	A	G	73396007	2	3	245	1	0	0	0	0	0	0	0	1	11927	11	1	3		3	PIBF1	13	73396007	Silent	SNP	A	TCGA-KK-A59Z-01A-12D-A26M-08	41024460	73396007	41773871	36	12838											
DACT1	51339	broad.mit.edu	37	chr14	59112126	59112126	+	Translation_Start_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgtgatctggtgtctaaaaAcgggaatgatgtatatcgct	11	13	12	5	2	2	2	0	2	2	0	3	3	2	3	0	2	1	2	0	2	6	3			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr14:59112126A>T	ENST00000395151.3	+	0	401				DACT1_ENST00000556859.1_De_novo_Start_OutOfFrame|DACT1_ENST00000555845.1_3'UTR|DACT1_ENST00000541264.2_De_novo_Start_OutOfFrame|DACT1_ENST00000395153.3_Missense_Mutation_p.N225I|DACT1_ENST00000335867.4_Missense_Mutation_p.N262I			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1						multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						GTGTCTAAAAACGGGAATGAT	0.493													9	66					0	0	1	0	0	T	59112126	A	T	59112126	1	4	245	1	0	0	0	0	0	0	0	0	4246	43	2	5		5	DACT1	14	59112126	Translation_Start_Site	SNP	A	TCGA-KK-A59Z-01A-12D-A26M-08		59112126	48237414	37	12839											
MTA1	9112	broad.mit.edu	37	chr14	105936451	105936451	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaccaagcgtgctgcccgcCggccctacaagcccatcgcc	9	4	9	19	4	0	0	0	0	0	0	1	0	0	0	6	1	6	1	6	1	4	1			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr14:105936451C>T	ENST00000331320.7	+	21	2261	c.2047C>T	c.(2047-2049)Cgg>Tgg	p.R683W	MTA1_ENST00000406191.1_Missense_Mutation_p.R671W|MTA1_ENST00000405646.1_Missense_Mutation_p.R666W|MTA1_ENST00000435036.2_Missense_Mutation_p.R223W|RP11-521B24.5_ENST00000552675.1_RNA	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	683					signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		TGCTGCCCGCCGGCCCTACAA	0.701													5	106					0	0	1	0	0	T	105936451	C	T	105936451	3	4	245	1	0	0	0	0	1	0	0	0	9956	643	23	1	2129	1	MTA1	14	105936451	Missense_Mutation	SNP	C	TCGA-KK-A59Z-01A-12D-A26M-08	46824325	105936451	1413089	38	12840											
VPS39	23339	broad.mit.edu	37	chr15	42456581	42456581	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aagggaaaatcacagatgagCcggcctggatcatagtagct	14	7	12	8	1	2	2	2	1	0	1	2	4	2	4	2	3	2	2	2	3	5	2			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr15:42456581C>T	ENST00000318006.5	-	19	2163	c.2001G>A	c.(1999-2001)cgG>cgA	p.R667R	VPS39_ENST00000348544.4_Silent_p.R678R	NM_015289.2	NP_056104.2	Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	678					protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		CACAGATGAGCCGGCCTGGAT	0.507													6	40					0	0	1	0	0	T	42456581	C	T	42456581	2	4	245	1	0	0	0	0	0	0	0	1	17269	726	26	2		2	VPS39	15	42456581	Silent	SNP	C	TCGA-KK-A59Z-01A-12D-A26M-08		42456581	60074811	39	12841											
SLC24A5	283652	broad.mit.edu	37	chr15	48431347	48431347	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atatccgcatttacatatatCctggtttggatggtcacaat	11	15	7	8	1	1	0	1	0	0	0	3	1	3	1	2	3	1	2	2	3	5	6			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr15:48431347C>A	ENST00000341459.3	+	7	1126	c.1053C>A	c.(1051-1053)atC>atA	p.I351I	SLC24A5_ENST00000449382.2_Silent_p.I291I	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	351					response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		TTACATATATCCTGGTTTGGA	0.303													17	13					8.34094e-07	8.85581e-07	1	1	0	A	48431347	C	A	48431347	2	1	245	1	0	0	0	0	0	0	0	1	14524	845	30	4		4	SLC24A5	15	48431347	Silent	SNP	C	TCGA-KK-A59Z-01A-12D-A26M-08	5974766	48431347	54100045	40	12842											
PALB2	79728	broad.mit.edu	37	chr16	23640966	23640966	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaaatggattgtacctgttCgacggaatgtttatgcagct	10	13	12	6	2	0	0	0	0	0	0	1	4	0	3	1	3	3	5	1	3	4	5			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr16:23640966C>T	ENST00000261584.4	-	5	2661	c.2509G>A	c.(2509-2511)Gaa>Aaa	p.E837K		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	837					double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		TGTACCTGTTCGACGGAATGT	0.448			"F, N, Mis"			"Wilms tumor, medulloblastoma, AML ,breast"		Involved in tolerance or repair of DNA crosslinks					7	36					0	0	1	0	0	T	23640966	C	T	23640966	3	4	245	1	0	0	0	0	1	0	0	0	11453	893	31	1	1087	1	PALB2	16	23640966	Missense_Mutation	SNP	C	TCGA-KK-A59Z-01A-12D-A26M-08		23640966	66713787	41	12843											
IL27	246778	broad.mit.edu	37	chr16	28511176	28511178	+	In_Frame_Del	DEL	CTC	CTC	-																															cctgggagcagccccttcctCtcctcctcctcctcctcctc																										TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr16:28511176_28511178delCTC	ENST00000356897.1	-	5	548_550	c.526_528delGAG	c.(526-528)del	p.E176del		NM_145659.3	NP_663634.2	Q8NEV9	IL27A_HUMAN	interleukin 27	176	Glu-rich.				inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation	extracellular space	cytokine activity|interleukin-27 receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	10						GCCCCTtcctctcctcctcctcc	0.685													2	4	---	---	---	---						-	28511178	CTC	-	28511176	7	5	245	1	0	1	0	1	0	0	0	0	7724	912	32	0	207	0	IL27	16	28511176	In_Frame_Del	DEL	CTC	TCGA-KK-A59Z-01A-12D-A26M-08	4870210	28511176	61843577	42	12844											
ITGAM	3684	broad.mit.edu	37	chr16	31277424	31277424	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gctctgcttcctgtttggatCcaacctacggcagcagcccc	6	10	9	16	1	1	0	0	0	1	0	3	1	3	1	5	2	5	5	5	2	2	3			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr16:31277424C>T	ENST00000544665.3	+	5	454	c.383C>T	c.(382-384)tCc>tTc	p.S128F	ITGAM_ENST00000287497.8_Missense_Mutation_p.S128F	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	128					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CTGTTTGGATCCAACCTACGG	0.612													17	46					0	0	1	0	0	T	31277424	C	T	31277424	3	4	245	1	0	0	0	0	1	0	0	0	7931	855	30	2	401	2	ITGAM	16	31277424	Missense_Mutation	SNP	C	TCGA-KK-A59Z-01A-12D-A26M-08	2766248	31277424	59077329	43	12845											
CDH16	1014	broad.mit.edu	37	chr16	66946577	66946577	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcacttaccaccctctgcGcctgccaggtccatggccag	6	7	11	17	1	1	0	0	0	1	0	2	0	2	0	6	3	3	1	6	3	1	1	rs145180383	byFrequency	TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr16:66946577G>A	ENST00000299752.4	-	10	1465	c.1272C>T	c.(1270-1272)ggC>ggT	p.G424G	CDH16_ENST00000565796.1_Silent_p.G424G|CDH16_ENST00000394055.3_Silent_p.G424G|CDH16_ENST00000568632.1_Silent_p.G327G|CDH16_ENST00000570262.1_Silent_p.G344G	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	424	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		CACCCTCTGCGCCTGCCAGGT	0.637													14	29					0	0	1	0	0	A	66946577	G	A	66946577	2	1	245	1	0	0	0	0	0	0	0	1	3123	1074	38	1		1	CDH16	16	66946577	Silent	SNP	G	TCGA-KK-A59Z-01A-12D-A26M-08	35669153	66946577	23408176	44	12846											
SLC7A5	8140	broad.mit.edu	37	chr16	87872329	87872329	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgctcacctggaggatGtgaacagggacccattgacg	9	8	14	10	1	1	2	1	2	0	0	1	5	1	5	2	3	2	2	2	3	1	1			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr16:87872329G>A	ENST00000261622.4	-	6	1099	c.1034C>T	c.(1033-1035)aCa>aTa	p.T345I	SLC7A5_ENST00000565644.1_Missense_Mutation_p.T79I	NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 5	345					blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development	apical plasma membrane|cytosol|integral to membrane	neutral amino acid transmembrane transporter activity|peptide antigen binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(80;0.049)		CCTGGAGGATGTGAACAGGGA	0.587													19	64					0	0	1	0	0	A	87872329	G	A	87872329	3	1	245	1	0	0	0	0	1	0	0	0	14755	1377	48	2	509	2	SLC7A5	16	87872329	Missense_Mutation	SNP	G	TCGA-KK-A59Z-01A-12D-A26M-08	20925752	87872329	2482424	45	12847											
SMTNL2	342527	broad.mit.edu	37	chr17	4496308	4496308	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctgtgagcctctccttgcGgctgccccaccagccagtca	5	9	9	18	1	2	1	1	1	1	0	4	1	3	1	7	1	4	1	7	1	0	1			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr17:4496308G>A	ENST00000389313.4	+	3	639	c.572G>A	c.(571-573)cGg>cAg	p.R191Q	SMTNL2_ENST00000338859.4_Missense_Mutation_p.R47Q	NM_001114974.1	NP_001108446.1	Q2TAL5	SMTL2_HUMAN	smoothelin-like 2	191										breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1)	13				READ - Rectum adenocarcinoma(115;0.0325)		CTCTCCTTGCGGCTGCCCCAC	0.622													14	43					0	0	1	0	0	A	4496308	G	A	4496308	3	1	245	1	0	0	0	0	1	0	0	0	14870	1116	39	1	582	1	SMTNL2	17	4496308	Missense_Mutation	SNP	G	TCGA-KK-A59Z-01A-12D-A26M-08		4496308	76698902	46	12848											
KRT16	3868	broad.mit.edu	37	chr17	39767667	39767667	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcatctccaggtcagtcCtggccagggtcagctcatcc	6	10	10	15	0	5	0	3	0	2	0	8	0	7	0	4	3	2	2	4	3	0	0			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr17:39767667C>G	ENST00000301653.4	-	3	765	c.701G>C	c.(700-702)aGg>aCg	p.R234T		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	234	Coil 1B.|Rod.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				CAGGTCAGTCCTGGCCAGGGT	0.632													44	68					0	0	1	0	0	G	39767667	C	G	39767667	3	3	245	1	0	0	0	0	1	0	0	0	8496	681	24	4	744	4	KRT16	17	39767667	Missense_Mutation	SNP	C	TCGA-KK-A59Z-01A-12D-A26M-08	35271359	39767667	41427543	47	12849											
SPOP	8405	broad.mit.edu	37	chr17	47696425	47696425	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctacggatgaatttcttgAatccccagtctttgccttgc	7	15	7	12	1	3	2	0	2	3	0	4	3	4	3	3	1	3	0	3	1	3	5			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr17:47696425A>C	ENST00000393331.3	-	7	868	c.398T>G	c.(397-399)tTc>tGc	p.F133C	SPOP_ENST00000504102.1_Missense_Mutation_p.F133C|SPOP_ENST00000347630.2_Missense_Mutation_p.F133C|SPOP_ENST00000393328.2_Missense_Mutation_p.F133C|SPOP_ENST00000503676.1_Missense_Mutation_p.F133C	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	133	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.F133C(3)|p.F133S(2)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						GAATTTCTTGAATCCCCAGTC	0.448										Prostate(2;0.17)			48	84					0	0	1	0	0	C	47696425	A	C	47696425	3	2	245	1	0	0	0	0	1	0	0	0	15140	246	9	5	750	5	SPOP	17	47696425	Missense_Mutation	SNP	A	TCGA-KK-A59Z-01A-12D-A26M-08	7928758	47696425	33498785	48	12850											
SMARCD2	6603	broad.mit.edu	37	chr17	61914805	61914805	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcaggatgctcttacccccGgcgctgggcaggcatgggag	7	6	16	12	2	1	0	0	0	1	0	1	2	1	2	2	5	3	5	2	5	1	1			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr17:61914805G>A	ENST00000448276.2	-	2	662	c.397C>T	c.(397-399)Cgg>Tgg	p.R133W	SMARCD2_ENST00000225742.9_Missense_Mutation_p.R58W|SMARCD2_ENST00000323347.10_Missense_Mutation_p.R85W	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2	133					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						TCTTACCCCCGGCGCTGGGCA	0.582													57	67					0	0	1	0	0	A	61914805	G	A	61914805	3	1	245	1	0	0	0	0	1	0	0	0	14832	1115	39	1	1246	1	SMARCD2	17	61914805	Missense_Mutation	SNP	G	TCGA-KK-A59Z-01A-12D-A26M-08	14218380	61914805	19280405	49	12851											
KIF19	124602	broad.mit.edu	37	chr17	72340364	72340364	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccacctgtcccgtcagatCtacaatgagatgatccggga	10	8	9	14	2	2	3	1	2	1	2	4	5	4	4	5	1	1	0	5	1	2	1			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr17:72340364C>A	ENST00000389916.4	+	6	597	c.459C>A	c.(457-459)atC>atA	p.I153I		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	153	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						CCCGTCAGATCTACAATGAGA	0.627													32	39					1.36161e-19	1.60409e-19	1	1	0	A	72340364	C	A	72340364	2	1	245	1	0	0	0	0	0	0	0	1	8324	903	32	4		4	KIF19	17	72340364	Silent	SNP	C	TCGA-KK-A59Z-01A-12D-A26M-08	10425559	72340364	8854846	50	12852											
FDXR	2232	broad.mit.edu	37	chr17	72862613	72862613	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcagctccggcaccgtcacGtccctgcccacctccacgtt	5	7	8	21	5	1	0	1	0	0	0	4	0	4	0	6	1	2	4	6	1	0	1	rs7223627	byFrequency	TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr17:72862613G>A	ENST00000455107.2	-	5	632	c.216C>T	c.(214-216)gaC>gaT	p.D72D	FDXR_ENST00000293195.5_Silent_p.D116D|FDXR_ENST00000582944.1_Silent_p.D108D|FDXR_ENST00000581969.1_5'UTR|FDXR_ENST00000544854.1_Silent_p.D64D|FDXR_ENST00000420580.2_Intron|FDXR_ENST00000581530.1_Silent_p.D116D|FDXR_ENST00000583917.1_Silent_p.D117D|FDXR_ENST00000413947.2_Silent_p.D147D|FDXR_ENST00000442102.2_Silent_p.D159D			P22570	ADRO_HUMAN	ferredoxin reductase	116					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)					GCACCGTCACGTCCCTGCCCA	0.662													3	34					0	0	1	0	0	A	72862613	G	A	72862613	2	1	245	1	0	0	0	0	0	0	0	1	5840	1136	40	1		1	FDXR	17	72862613	Silent	SNP	G	TCGA-KK-A59Z-01A-12D-A26M-08	522249	72862613	8332597	51	12853											
TTC39C	125488	broad.mit.edu	37	chr18	21663037	21663037	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttcaagggacggatacaaCgactagaggtactgtacctt	12	11	10	8	2	1	1	1	0	0	1	1	4	1	3	1	3	4	2	1	3	6	7			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr18:21663037C>T	ENST00000317571.3	+	6	1212	c.976C>T	c.(976-978)Cga>Tga	p.R326*	RP11-403A21.3_ENST00000578443.1_RNA|TTC39C_ENST00000304621.6_Nonsense_Mutation_p.R265*	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	326							binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						ACGGATACAACGACTAGAGGT	0.393													6	38					0	0	1	0	0	T	21663037	C	T	21663037	4	4	245	1	0	0	0	0	0	1	0	0	16771	528	19	1	998	1	TTC39C	18	21663037	Nonsense_Mutation	SNP	C	TCGA-KK-A59Z-01A-12D-A26M-08		21663037	56414211	52	12854											
KDSR	2531	broad.mit.edu	37	chr18	61030014	61030014	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaacctagaagccttacctCatttcgtgcaaccagagtta	12	11	7	11	1	1	3	1	1	0	2	2	3	1	3	4	0	5	2	4	0	6	4			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr18:61030014C>T	ENST00000406396.3	-	2	587	c.196G>A	c.(196-198)Gag>Aag	p.E66K	KDSR_ENST00000326575.5_Missense_Mutation_p.E66K	NM_002035.2	NP_002026.1	Q06136	KDSR_HUMAN	3-ketodihydrosphingosine reductase	66					3-keto-sphinganine metabolic process	endoplasmic reticulum membrane|extracellular space|integral to membrane	3-dehydrosphinganine reductase activity|binding			endometrium(2)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	9						AGCCTTACCTCATTTCGTGCA	0.413													18	24					0	0	1	0	0	T	61030014	C	T	61030014	3	4	245	1	0	0	0	0	1	0	0	0	8183	835	29	2	838	2	KDSR	18	61030014	Missense_Mutation	SNP	C	TCGA-KK-A59Z-01A-12D-A26M-08	39366977	61030014	17047234	53	12855											
TYK2	7297	broad.mit.edu	37	chr19	10464234	10464234	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgggcgaagagcagcagCtgggccagcccgatgctgtg	7	6	17	11	2	0	1	0	0	0	1	0	3	0	1	2	2	6	5	2	2	1	0			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr19:10464234C>T	ENST00000525621.1	-	21	3478	c.2997G>A	c.(2995-2997)caG>caA	p.Q999Q	TYK2_ENST00000524462.1_Silent_p.Q814Q|TYK2_ENST00000264818.6_Silent_p.Q999Q	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	999	Protein kinase 2.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			AGAGCAGCAGCTGGGCCAGCC	0.677													10	10					0	0	1	0	0	T	10464234	C	T	10464234	2	4	245	1	0	0	0	0	0	0	0	1	16872	796	28	2		2	TYK2	19	10464234	Silent	SNP	C	TCGA-KK-A59Z-01A-12D-A26M-08		10464234	48664749	54	12856											
CAPN12	147968	broad.mit.edu	37	chr19	39233710	39233710	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acgtctgtgcggctcatgtcTtcacagatgaacttcggctc	7	12	10	12	3	4	2	2	1	2	1	6	2	4	2	0	2	2	2	0	2	1	2			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr19:39233710T>A	ENST00000328867.4	-	2	578	c.270A>T	c.(268-270)gaA>gaT	p.E90D	CAPN12_ENST00000601953.1_Intron	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	90	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			GGCTCATGTCTTCACAGATGA	0.572													9	68					0	0	1	0	0	A	39233710	T	A	39233710	3	1	245	1	0	0	0	0	1	0	0	0	2643	1606	56	5	1969	5	CAPN12	19	39233710	Missense_Mutation	SNP	T	TCGA-KK-A59Z-01A-12D-A26M-08	28769476	39233710	19895273	55	12857											
FCGBP	8857	broad.mit.edu	37	chr19	40421659	40421659	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggtcgggcaagcagggccGcagagctcatagcggctgtt	8	6	17	10	3	1	1	1	0	0	1	2	2	1	1	1	4	3	6	1	4	2	2			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr19:40421659G>A	ENST00000221347.6	-	5	2269	c.2262C>T	c.(2260-2262)tgC>tgT	p.C754C		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	754	Cys-rich.|TIL 1.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			AAGCAGGGCCGCAGAGCTCAT	0.716													4	8					0	0	1	0	0	A	40421659	G	A	40421659	2	1	245	1	0	0	0	0	0	0	0	1	5811	1079	38	1		1	FCGBP	19	40421659	Silent	SNP	G	TCGA-KK-A59Z-01A-12D-A26M-08	1187949	40421659	18707324	56	12858											
DACT3	147906	broad.mit.edu	37	chr19	47151969	47151969	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaaggcaggcgattctccctCgctggcgctcgattcgctct	5	10	12	14	5	2	0	0	0	2	0	6	3	2	0	1	3	0	4	1	3	1	2			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr19:47151969C>T	ENST00000391916.2	-	4	1733	c.1660G>A	c.(1660-1662)Gag>Aag	p.E554K	DACT3_ENST00000300875.4_Missense_Mutation_p.E329K	NM_145056.2	NP_659493.2	Q96B18	DACT3_HUMAN	dishevelled-binding antagonist of beta-catenin 3	554										lung(1)	1		Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000173)|all cancers(93;0.000464)|Epithelial(262;0.02)|GBM - Glioblastoma multiforme(486;0.0325)		GATTCTCCCTCGCTGGCGCTC	0.746													5	31					0	0	1	0	0	T	47151969	C	T	47151969	3	4	245	1	0	0	0	0	1	0	0	0	4247	893	31	1	233	1	DACT3	19	47151969	Missense_Mutation	SNP	C	TCGA-KK-A59Z-01A-12D-A26M-08	6730310	47151969	11977014	57	12859											
LILRB5	0	broad.mit.edu	37	chr19	54754843	54754843	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaacgtggtgggggtggggAggcctgggggcctggagagg	5	5	26	5	1	0	1	0	0	0	1	0	4	0	3	2	11	1	0	2	11	1	0			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr19:54754843A>G	ENST00000450632.1	-	13	1869	c.1792T>C	c.(1792-1794)Tcc>Ccc	p.S598P	LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000316219.5_Intron			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	423					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGGGTGGGGAGGCCTGGGGG	0.607													5	66					0	0	1	0	0	G	54754843	A	G	54754843	3	3	245	1	0	0	0	0	1	0	0	0	8834	319	11	3		3	LILRB5	19	54754843	Missense_Mutation	SNP	A	TCGA-KK-A59Z-01A-12D-A26M-08	7602874	54754843	4374140	58	12860											
ARFGEF2	10564	broad.mit.edu	37	chr20	47588909	47588909	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cattttagaaacatcaacaaGttcttttgagcacaggtgga	14	12	8	7	0	2	2	1	1	1	1	2	3	2	3	0	2	3	2	0	2	4	5			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr20:47588909G>T	ENST00000371917.4	+	11	1472	c.1472G>T	c.(1471-1473)aGt>aTt	p.S491I		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	491					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			ACATCAACAAGTTCTTTTGAG	0.413													12	22					9.31168e-06	9.76591e-06	1	1	0	T	47588909	G	T	47588909	3	4	245	1	0	0	0	0	1	0	0	0	850	1029	36	4	1514	4	ARFGEF2	20	47588909	Missense_Mutation	SNP	G	TCGA-KK-A59Z-01A-12D-A26M-08		47588909	15436611	59	12861											
BAGE2	85319	broad.mit.edu	37	chr21	11058353	11058353	+	RNA	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtaaaggagagaaatctcttTataaaaccttgaaaaggaat	19	10	8	4	0	1	2	0	1	1	1	2	5	1	4	1	2	1	1	1	2	9	5	rs79433933	by1000genomes	TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr21:11058353T>C	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)		GAAATCTCTTTATAAAACCTT	0.343													5	80					0	0	1	0	0	C	11058353	T	C	11058353	1	2	245	0	1	0	0	0	0	0	0	0	1290	1769	61	3		3	BAGE2	21	11058353	RNA	SNP	T	TCGA-KK-A59Z-01A-12D-A26M-08		11058353	37071542	60	12862											
RTDR1	27156	broad.mit.edu	37	chr22	23401783	23401783	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggccttgcggccctcgggggCctctgccagcatggtaaggg	4	7	17	13	2	1	0	0	0	1	0	2	0	1	0	4	6	3	2	4	6	1	2			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr22:23401783C>A	ENST00000216036.4	-	7	1100	c.904G>T	c.(904-906)Gcc>Tcc	p.A302S		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN	rhabdoid tumor deletion region gene 1	302							binding			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		CCCTCGGGGGCCTCTGCCAGC	0.642													32	136					7.11191e-15	8.15499e-15	1	1	0	A	23401783	C	A	23401783	3	1	245	1	0	0	0	0	1	0	0	0	13771	739	26	4	146	4	RTDR1	22	23401783	Missense_Mutation	SNP	C	TCGA-KK-A59Z-01A-12D-A26M-08		23401783	27902783	61	12863											
GGT5	2687	broad.mit.edu	37	chr22	24629908	24629908	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgctctgagggttgacgaCgctggtgcagaccagagccg	8	7	15	11	3	1	4	0	2	1	2	1	5	1	4	2	2	3	4	2	2	0	1			TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chr22:24629908C>T	ENST00000327365.4	-	2	654	c.238G>A	c.(238-240)Gtc>Atc	p.V80I	GGT5_ENST00000418439.2_Intron|GGT5_ENST00000398292.3_Missense_Mutation_p.V80I|GGT5_ENST00000263112.7_Missense_Mutation_p.V80I	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	80					glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						GGGTTGACGACGCTGGTGCAG	0.622													39	30					0	0	1	0	0	T	24629908	C	T	24629908	3	4	245	1	0	0	0	0	1	0	0	0	6404	536	19	1	1569	1	GGT5	22	24629908	Missense_Mutation	SNP	C	TCGA-KK-A59Z-01A-12D-A26M-08	1228125	24629908	26674658	62	12864											
MAP7D2	256714	broad.mit.edu	37	chrX	20060691	20060691	+	Missense_Mutation	SNP	G	G	T																															catcttctcagaggggacccGaagttcacaacaggaagaga																								rs151305022	byFrequency	TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chrX:20060691G>T	ENST00000379651.3	-	7	831	c.813C>A	c.(811-813)ttC>ttA	p.F271L	MAP7D2_ENST00000443379.3_Missense_Mutation_p.F226L|MAP7D2_ENST00000543767.1_Missense_Mutation_p.F156L|MAP7D2_ENST00000452324.3_Missense_Mutation_p.F219L|MAP7D2_ENST00000379643.5_Missense_Mutation_p.F312L	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	271										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						GAGGGGACCCGAAGTTCACAA	0.512													5	131					5.9392e-07	6.46546e-07	1	1	0	T	20060691	G	T	20060691	3	4	245	1	0	0	0	0	1	0	0	0	9318	1049	37	4	1421	4	MAP7D2	23	20060691	Missense_Mutation	SNP	G	TCGA-KK-A59Z-01A-12D-A26M-08		20060691	135209869	63	12865	64	2									
MAP7D2	256714	broad.mit.edu	37	chrX	20060693	20060693	+	Missense_Mutation	SNP	A	A	G																															tcttctcagaggggacccgaAgttcacaacaggaagagaag																								rs140590662	byFrequency	TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chrX:20060693A>G	ENST00000379651.3	-	7	829	c.811T>C	c.(811-813)Ttc>Ctc	p.F271L	MAP7D2_ENST00000443379.3_Missense_Mutation_p.F226L|MAP7D2_ENST00000543767.1_Missense_Mutation_p.F156L|MAP7D2_ENST00000452324.3_Missense_Mutation_p.F219L|MAP7D2_ENST00000379643.5_Missense_Mutation_p.F312L	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	271										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						GGGGACCCGAAGTTCACAACA	0.512													6	132					0	0	1	0	0	G	20060693	A	G	20060693	3	3	245	1	0	0	0	0	1	0	0	0	9318	72	3	3	1423	3	MAP7D2	23	20060693	Missense_Mutation	SNP	A	TCGA-KK-A59Z-01A-12D-A26M-08	2	20060693	135209867	64	12866	64	2									
GUCY2F	2986	broad.mit.edu	37	chrX	108719047	108719047	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctgcggaagggacatgacaGacagaaggcacaagcaccac	15	2	13	11	1	0	3	0	1	0	2	0	5	0	5	1	3	2	3	1	3	3	0	rs34228145	byFrequency	TCGA-KK-A59Z-01A-12D-A26M-08	TCGA-KK-A59Z-11A-11D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7fb84b2b-2982-40fd-81c4-64892a963f04	5c810244-da67-425d-8315-da8c34d6a16f	g.chrX:108719047G>C	ENST00000218006.2	-	2	410	c.119C>G	c.(118-120)tCt>tGt	p.S40C		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	40			S -> C (in dbSNP:rs34228145).		intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						GGACATGACAGACAGAAGGCA	0.562											OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	62					0	0	1	0	0	C	108719047	G	C	108719047	3	2	245	1	0	0	0	0	1	0	0	0	6939	942	33	4	3279	4	GUCY2F	23	108719047	Missense_Mutation	SNP	G	TCGA-KK-A59Z-01A-12D-A26M-08	88658354	108719047	46551513	65	12867											
NPPA	4878	broad.mit.edu	37	chr1	11907408	11907408	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggagggggctgagagcagccCccgcttcttcattcggctca	6	8	14	13	2	3	1	2	1	1	1	4	3	3	2	2	4	2	4	2	4	0	3			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:11907408C>T	ENST00000376480.3	-	2	310	c.212G>A	c.(211-213)gGg>gAg	p.G71E	NPPA-AS1_ENST00000400892.2_RNA|NPPA_ENST00000376476.1_Missense_Mutation_p.G21E|NPPA-AS1_ENST00000446542.1_RNA	NM_006172.3	NP_006163.1	P01160	ANF_HUMAN	natriuretic peptide A	71					cGMP biosynthetic process|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size	extracellular region	hormone activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAGAGCAGCCCCCGCTTCTTC	0.602													7	75					0	0	1	0	0	T	11907408	C	T	11907408	3	4	246	1	0	0	0	0	1	0	0	0	10639	623	22	2	251	2	NPPA	1	11907408	Missense_Mutation	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08		11907408	237343213	1	12868											
PLOD1	5351	broad.mit.edu	37	chr1	12030871	12030871	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctaccccggctactacaccAgggtgggcaagcctggggca	8	6	13	14	1	1	0	0	0	1	0	1	0	1	0	4	5	4	3	4	5	4	3			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:12030871A>G	ENST00000196061.4	+	17	1927	c.1900A>G	c.(1900-1902)Agg>Ggg	p.R634G	PLOD1_ENST00000376369.3_Missense_Mutation_p.R681G	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	634					epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	CTACTACACCAGGGTGGGCAA	0.607													3	36					0	0	1	0	0	G	12030871	A	G	12030871	3	3	246	1	0	0	0	0	1	0	0	0	12149	179	7	3	1966	3	PLOD1	1	12030871	Missense_Mutation	SNP	A	TCGA-KK-A5A1-01A-11D-A29Q-08	123463	12030871	237219750	2	12869											
PRAMEF1	65121	broad.mit.edu	37	chr1	12855601	12855601	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccacaggtgcctccagaaccCcttggagaacttggaattaa	12	8	9	12	0	0	2	0	0	0	2	1	4	1	3	5	3	3	0	5	3	4	3			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:12855601C>A	ENST00000332296.7	+	4	984	c.881C>A	c.(880-882)cCc>cAc	p.P294H	PRAMEF1_ENST00000400814.3_Missense_Mutation_p.P49H	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	294										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTCCAGAACCCCTTGGAGAAC	0.463													11	138					3.07112e-06	3.45203e-06	1	1	0	A	12855601	C	A	12855601	3	1	246	1	0	0	0	0	1	0	0	0	12474	623	22	4	891	4	PRAMEF1	1	12855601	Missense_Mutation	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08	824730	12855601	236395020	3	12870											
ZMYM4	9202	broad.mit.edu	37	chr1	35884163	35884163	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgactttatgagttttacCtgtcaaaatggtaatctttc	10	17	6	8	1	2	1	1	1	1	0	4	2	3	1	2	1	1	2	2	1	5	6			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:35884163C>T	ENST00000314607.6	+	29	4509	c.4429C>T	c.(4429-4431)Ctg>Ttg	p.L1477L	ZMYM4_ENST00000373297.2_Silent_p.L1388L	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	1477					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TGAGTTTTACCTGTCAAAATG	0.413													4	50					0	0	1	0	0	T	35884163	C	T	35884163	2	4	246	1	0	0	0	0	0	0	0	1	17760	680	24	2		2	ZMYM4	1	35884163	Silent	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08	23028562	35884163	213366458	4	12871											
GJA8	2703	broad.mit.edu	37	chr1	147380242	147380242	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagcaatccgacttcgtgTgcaacacccagcagcctggc	10	7	10	14	2	0	1	0	1	0	0	2	2	1	1	3	1	5	3	3	1	2	1			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:147380242T>C	ENST00000240986.4	+	2	213	c.160T>C	c.(160-162)Tgc>Cgc	p.C54R	GJA8_ENST00000369235.1_Missense_Mutation_p.C54R	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	54					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					CGACTTCGTGTGCAACACCCA	0.592													5	60					0	0	1	0	0	C	147380242	T	C	147380242	3	2	246	1	0	0	0	0	1	0	0	0	6447	1696	59	3	162	3	GJA8	1	147380242	Missense_Mutation	SNP	T	TCGA-KK-A5A1-01A-11D-A29Q-08	111496079	147380242	101870379	5	12872											
TDRKH	11022	broad.mit.edu	37	chr1	151748667	151748667	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttctccaaggtgccgaggacCcgggctcgataccaggaacc	9	6	12	14	3	1	0	0	0	1	0	3	4	1	2	5	4	3	1	5	4	3	2			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:151748667C>T	ENST00000368822.1	-	8	1755	c.1122G>A	c.(1120-1122)cgG>cgA	p.R374R	TDRKH_ENST00000368825.3_Silent_p.R329R|TDRKH_ENST00000368827.6_Silent_p.R374R|TDRKH_ENST00000440583.2_Silent_p.R150R|TDRKH_ENST00000368823.1_Silent_p.R370R|TDRKH_ENST00000368824.3_Silent_p.R374R|TDRKH_ENST00000458431.2_Silent_p.R374R			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	374	Tudor.						RNA binding			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGCCGAGGACCCGGGCTCGAT	0.507													7	76					0	0	1	0	0	T	151748667	C	T	151748667	2	4	246	1	0	0	0	0	0	0	0	1	15796	610	22	2		2	TDRKH	1	151748667	Silent	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08	4368425	151748667	97501954	6	12873											
LCE1A	353131	broad.mit.edu	37	chr1	152800112	152800112	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggaggctgctgtggctccaGctctgggggcggctgcagct	3	8	18	12	2	1	0	0	0	1	0	2	1	2	1	1	6	4	7	1	6	0	0			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:152800112G>T	ENST00000335123.2	+	1	164	c.164G>T	c.(163-165)aGc>aTc	p.S55I		NM_178348.2	NP_848125.1	Q5T7P2	LCE1A_HUMAN	late cornified envelope 1A	55	Cys-rich.				keratinization					endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGTGGCTCCAGCTCTGGGGGC	0.667													12	80					1.15088e-07	1.35673e-07	1	1	0	T	152800112	G	T	152800112	3	4	246	1	0	0	0	0	1	0	0	0	8698	971	34	4	166	4	LCE1A	1	152800112	Missense_Mutation	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08	1051445	152800112	96450509	7	12874											
OR10Z1	128368	broad.mit.edu	37	chr1	158576638	158576638	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccactatgccagccacatgaAtcctaccctctgtgcccagc	9	8	6	18	0	1	1	0	1	1	0	2	1	2	1	6	0	5	0	6	0	3	2			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:158576638A>G	ENST00000361284.1	+	1	410	c.410A>G	c.(409-411)aAt>aGt	p.N137S		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					AGCCACATGAATCCTACCCTC	0.512													29	64					0	0	1	0	0	G	158576638	A	G	158576638	3	3	246	1	0	0	0	0	1	0	0	0	10971	101	4	3	412	3	OR10Z1	1	158576638	Missense_Mutation	SNP	A	TCGA-KK-A5A1-01A-11D-A29Q-08	5776526	158576638	90673983	8	12875											
LY9	4063	broad.mit.edu	37	chr1	160784292	160784292	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtcaccctgccacttgcactCccagcctgccgggacacaga	8	6	9	18	1	1	1	1	0	0	1	2	2	2	2	5	1	4	1	5	1	0	1			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:160784292C>G	ENST00000263285.5	+	4	843	c.813C>G	c.(811-813)ctC>ctG	p.L271L	LY9_ENST00000368041.2_Silent_p.L231L|LY9_ENST00000341032.4_Silent_p.L271L|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000471816.1_3'UTR	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	271	Ig-like V-type 2.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CACTTGCACTCCCAGCCTGCC	0.547													28	74					0	0	1	0	0	G	160784292	C	G	160784292	2	3	246	1	0	0	0	0	0	0	0	1	9147	842	30	4		4	LY9	1	160784292	Silent	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08	2207654	160784292	88466329	9	12876											
DUSP27	92235	broad.mit.edu	37	chr1	167095768	167095768	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaccacggcaggaggcgccGcgcagactcgatgtcctcgg	7	4	16	14	6	0	1	0	0	0	1	3	4	1	3	3	5	0	2	3	5	0	0			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:167095768G>A	ENST00000361200.2	+	6	1566	c.1400G>A	c.(1399-1401)cGc>cAc	p.R467H	DUSP27_ENST00000271385.5_Missense_Mutation_p.R467H|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.R467H			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	467					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	p.R467H(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AGGAGGCGCCGCGCAGACTCG	0.652													3	33					0	0	1	0	0	A	167095768	G	A	167095768	3	1	246	1	0	0	0	0	1	0	0	0	4850	1087	38	1	1418	1	DUSP27	1	167095768	Missense_Mutation	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08	6311476	167095768	82154853	10	12877											
SEC16B	89866	broad.mit.edu	37	chr1	177909845	177909845	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgacagcttcagtttctctGctagctgtgccaggtttcca	6	14	9	12	0	2	1	1	1	1	0	4	1	3	1	2	1	4	5	2	1	1	4			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:177909845G>A	ENST00000308284.6	-	17	2116	c.2027C>T	c.(2026-2028)gCa>gTa	p.A676V	RP4-798P15.3_ENST00000354921.2_5'UTR|RP4-798P15.3_ENST00000528461.1_3'UTR	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	676					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						CAGTTTCTCTGCTAGCTGTGC	0.517													6	27					0	0	1	0	0	A	177909845	G	A	177909845	3	1	246	1	0	0	0	0	1	0	0	0	14041	1319	46	2	1195	2	SEC16B	1	177909845	Missense_Mutation	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08	10814077	177909845	71340776	11	12878											
PTGS2	5743	broad.mit.edu	37	chr1	186648456	186648456	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accaaaggacaaacttacgtGttgagcagttttctccatag	13	11	8	9	1	1	1	0	1	1	0	2	2	1	2	2	1	3	3	2	1	4	5			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:186648456G>T	ENST00000367468.5	-	2	303	c.167C>A	c.(166-168)aCa>aAa	p.T56K	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	56					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	AAACTTACGTGTTGAGCAGTT	0.428													4	64					0.150653	0.15276	1	1	0	T	186648456	G	T	186648456	3	4	246	1	0	0	0	0	1	0	0	0	12806	1377	48	4	1683	4	PTGS2	1	186648456	Missense_Mutation	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08	8738611	186648456	62602165	12	12879											
FAM5C	0	broad.mit.edu	37	chr1	190129985	190129985	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgtgttgaggaaataatTcataggtagccttttcataa	14	14	9	4	0	2	2	2	1	0	1	2	3	2	3	1	2	1	2	1	2	5	8			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:190129985T>A	ENST00000367462.3	-	7	1228	c.997A>T	c.(997-999)Aat>Tat	p.N333Y	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.N231Y	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		333						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					AGGAAATAATTCATAGGTAGC	0.299													17	44					0	0	1	0	0	A	190129985	T	A	190129985	3	1	246	1	0	0	0	0	1	0	0	0	5629	1783	62	5	1311	5	FAM5C	1	190129985	Missense_Mutation	SNP	T	TCGA-KK-A5A1-01A-11D-A29Q-08	3481529	190129985	59120636	13	12880											
F13B	2165	broad.mit.edu	37	chr1	197032024	197032024	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggagaccagccttctgttgtAcacgtggtttgctcttcttg	5	15	11	10	1	3	1	0	0	3	1	3	2	3	1	2	2	3	4	2	2	1	6			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:197032024A>G	ENST00000367412.1	-	2	271	c.228T>C	c.(226-228)tgT>tgC	p.C76C		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	76	Sushi 1.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						CTTCTGTTGTACACGTGGTTT	0.378													27	136					0	0	1	0	0	G	197032024	A	G	197032024	2	3	246	1	0	0	0	0	0	0	0	1	5369	389	14	3		3	F13B	1	197032024	Silent	SNP	A	TCGA-KK-A5A1-01A-11D-A29Q-08	6902039	197032024	52218597	14	12881											
RASSF5	83593	broad.mit.edu	37	chr1	206760350	206760350	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcctggtgcattcagatttaTttgtattattaattattatt	10	22	5	4	0	1	1	1	0	0	1	2	1	2	1	1	1	1	2	1	1	6	10			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:206760350T>C	ENST00000338603.2	+	7	1224	c.1167T>C	c.(1165-1167)taT>taC	p.Y389Y	RASSF5_ENST00000304534.8_3'UTR|RASSF5_ENST00000355294.4_3'UTR|RASSF5_ENST00000367117.3_3'UTR|RASSF5_ENST00000491368.1_3'UTR|EIF2D_ENST00000472709.2_Intron	NM_182663.2	NP_872604.1	Q8WWW0	RASF5_HUMAN	Ras association (RalGDS/AF-6) domain family member 5	0	SARAH.				apoptosis|intracellular signal transduction	cytoplasm|microtubule	metal ion binding|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			TTCAGatttatttgtattatt	0.463													7	27					0	0	1	0	0	C	206760350	T	C	206760350	2	2	246	1	0	0	0	0	0	0	0	1	13141	1508	52	3		3	RASSF5	1	206760350	Silent	SNP	T	TCGA-KK-A5A1-01A-11D-A29Q-08	9728326	206760350	42490271	15	12882											
CAMK1G	57172	broad.mit.edu	37	chr1	209785550	209785550	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacactcctcaaaaaggcCaacaaaaaacagtacgtatt	18	6	4	13	1	1	0	1	0	0	0	2	0	2	0	3	1	3	2	3	1	8	3			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:209785550C>A	ENST00000009105.1	+	11	1574	c.1329C>A	c.(1327-1329)gcC>gcA	p.A443A	CAMK1G_ENST00000361322.2_Silent_p.A443A			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	443			A -> T (in a breast infiltrating ductal carcinoma sample; somatic mutation).			Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		TCAAAAAGGCCAACAAAAAAC	0.527													8	56					0.00307968	0.0033078	1	1	0	A	209785550	C	A	209785550	2	1	246	1	0	0	0	0	0	0	0	1	2616	581	21	4		4	CAMK1G	1	209785550	Silent	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08	3025200	209785550	39465071	16	12883											
TGFB2	7042	broad.mit.edu	37	chr1	218520075	218520075	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgctgagcgcttttctgaTcctgcatctggtcacggtcg	4	14	12	11	3	3	2	1	2	2	0	5	2	4	2	1	2	3	3	1	2	0	2			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:218520075T>C	ENST00000366929.4	+	1	499	c.32T>C	c.(31-33)aTc>aCc	p.I11T	TGFB2_ENST00000366930.4_Missense_Mutation_p.I11T	NM_001135599.2	NP_001129071.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	11					activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding			breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		GCTTTTCTGATCCTGCATCTG	0.443													9	93					0	0	1	0	0	C	218520075	T	C	218520075	3	2	246	1	0	0	0	0	1	0	0	0	15878	1435	50	3	34	3	TGFB2	1	218520075	Missense_Mutation	SNP	T	TCGA-KK-A5A1-01A-11D-A29Q-08	8734525	218520075	30730546	17	12884											
KMO	8564	broad.mit.edu	37	chr1	241713007	241713007	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctaccttcacacgtggaaGaagcattaacttagcccttt	11	11	8	11	1	1	1	1	0	0	1	1	2	1	2	2	2	4	2	2	2	5	5			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:241713007G>T	ENST00000366559.4	+	3	466	c.155G>T	c.(154-156)aGa>aTa	p.R52I	KMO_ENST00000366558.3_Missense_Mutation_p.R52I|KMO_ENST00000484628.1_3'UTR|KMO_ENST00000366557.4_Missense_Mutation_p.R52I	NM_003679.4	NP_003670.2	O15229	KMO_HUMAN	kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)	52					pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity	p.R52I(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			ACACGTGGAAGAAGCATTAAC	0.423													25	92					1.33986e-20	1.66051e-20	1	1	0	T	241713007	G	T	241713007	3	4	246	1	0	0	0	0	1	0	0	0	8467	942	33	4	165	4	KMO	1	241713007	Missense_Mutation	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08	23192932	241713007	7537614	18	12885											
WDR64	128025	broad.mit.edu	37	chr1	241912941	241912941	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacgagcactgcctacgaCgcctcattttcctcaaagcc	10	8	8	15	3	2	0	2	0	0	0	3	3	3	1	4	1	4	1	4	1	2	3	rs76254601	byFrequency	TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:241912941C>T	ENST00000366552.2	+	13	1864	c.1657C>T	c.(1657-1659)Cgc>Tgc	p.R553C	WDR64_ENST00000437684.2_Missense_Mutation_p.R553C	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	553										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			CTGCCTACGACGCCTCATTTT	0.532													29	83					0	0	1	0	0	T	241912941	C	T	241912941	3	4	246	1	0	0	0	0	1	0	0	0	17375	536	19	1	1707	1	WDR64	1	241912941	Missense_Mutation	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08	199934	241912941	7337680	19	12886											
KIF26B	55083	broad.mit.edu	37	chr1	245852063	245852063	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaacagcagctccgtgggCggcaggtgccggagcctcaa	9	4	16	12	3	1	1	1	0	0	1	2	3	2	2	3	4	5	3	3	4	2	0			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr1:245852063C>A	ENST00000366518.4	+	9	4739	c.4635C>A	c.(4633-4635)ggC>ggA	p.G1545G	KIF26B_ENST00000407071.2_Silent_p.G1926G			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1926					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GCTCCGTGGGCGGCAGGTGCC	0.716													10	21					0.0581538	0.060664	1	1	0	A	245852063	C	A	245852063	2	1	246	1	0	0	0	0	0	0	0	1	8337	755	27	4		4	KIF26B	1	245852063	Silent	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08	3939122	245852063	3398558	20	12887											
APOB	338	broad.mit.edu	37	chr2	21228379	21228379	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acttcagggaattttacctcGgggagtgttggtaggttgag	8	13	15	5	1	1	1	1	1	0	0	2	3	1	3	1	5	1	3	1	5	3	6			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr2:21228379G>A	ENST00000233242.1	-	26	11488	c.11361C>T	c.(11359-11361)ccC>ccT	p.P3787P		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3787					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATTTTACCTCGGGGAGTGTTG	0.398													94	103					0	0	1	0	0	A	21228379	G	A	21228379	2	1	246	1	0	0	0	0	0	0	0	1	782	1103	39	1		1	APOB	2	21228379	Silent	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08		21228379	221970994	21	12888											
EMX1	2016	broad.mit.edu	37	chr2	73145426	73145426	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcccccgcactccttcttcGgcgcccagcaccgggaccct	5	6	9	21	4	1	0	0	0	1	0	3	1	2	1	6	2	2	2	6	2	0	2			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr2:73145426G>A	ENST00000258106.6	+	1	823	c.445G>A	c.(445-447)Ggc>Agc	p.G149S	EMX1_ENST00000394111.5_Intron	NM_004097.2	NP_004088.2	Q04741	EMX1_HUMAN	empty spiracles homeobox 1	116						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(2)|lung(3)	6						CTCCTTCTTCGGCGCCCAGCA	0.706													5	41					0	0	1	0	0	A	73145426	G	A	73145426	3	1	246	1	0	0	0	0	1	0	0	0	5135	1116	39	1	447	1	EMX1	2	73145426	Missense_Mutation	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08	51917047	73145426	170053947	22	12889											
CNTN6	27255	broad.mit.edu	37	chr3	1363509	1363510	+	Frame_Shift_Ins	INS	-	-	T																															ccttgcaaagggtcaactcaINSttttttatggtgagctaatt																										TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr3:1363509_1363510insT	ENST00000446702.2	+	8	1564_1565	c.937_938insT	c.(937-939)tttfs	p.F313fs	CNTN6_ENST00000539053.1_Frame_Shift_Ins_p.F241fs|CNTN6_ENST00000350110.2_Frame_Shift_Ins_p.F313fs			Q9UQ52	CNTN6_HUMAN	contactin 6	313					axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GGGTCAACTCATTTTTTATGGT	0.351													34	80	---	---	---	---						T	1363510	-	T	1363509	7	5	246	1	0	1	1	0	0	0	0	0	3668	217	8	0	963	0	CNTN6	3	1363509	Frame_Shift_Ins	INS	-	TCGA-KK-A5A1-01A-11D-A29Q-08		1363509	196658921	23	12890											
ITPR1	3708	broad.mit.edu	37	chr3	4808388	4808388	+	Frame_Shift_Del	DEL	A	A	-																															acagggatgccccatcacggAaaaaaggtaaatgttcctca																										TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr3:4808388delA	ENST00000354582.6	+	44	6024	c.5674delA	c.(5674-5676)aafs	p.K1893fs	ITPR1_ENST00000357086.4_Frame_Shift_Del_p.K1860fs|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000456211.2_Frame_Shift_Del_p.K1845fs|ITPR1_ENST00000443694.2_Frame_Shift_Del_p.K1893fs|ITPR1_ENST00000302640.8_Frame_Shift_Del_p.K1893fs|ITPR1_ENST00000423119.2_Frame_Shift_Del_p.K1860fs			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1908					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		CCCATCACGGAAAAAAGGTAA	0.428													7	35	---	---	---	---						-	4808388	A	-	4808388	7	5	246	1	0	1	0	1	0	0	0	0	7964	247	9	0	5889	0	ITPR1	3	4808388	Frame_Shift_Del	DEL	A	TCGA-KK-A5A1-01A-11D-A29Q-08	3444879	4808388	193214042	24	12891											
GPR156	165829	broad.mit.edu	37	chr3	119962486	119962486	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgagaaactgggctgcttaCctgttcttcctgcagtgaat	9	13	10	9	0	1	2	0	2	1	1	2	3	2	2	2	1	4	4	2	1	3	3			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr3:119962486C>T	ENST00000464295.1	-	3	679		c.e3+1		GPR156_ENST00000461057.1_Splice_Site|GPR156_ENST00000315843.3_Splice_Site			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156							integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		GGGCTGCTTACCTGTTCTTCC	0.433													56	79					0	0	1	0	0	T	119962486	C	T	119962486	5	4	246	1	0	0	0	0	0	0	1	0	6701	521	18	2	2242	2	GPR156	3	119962486	Splice_Site	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08	115154098	119962486	78059944	25	12892											
ACPL2	92370	broad.mit.edu	37	chr3	141011306	141011306	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aagaagatttatttcaggcaCcagccaagtgcgctgttctg	11	11	10	9	1	2	2	1	0	1	2	2	2	2	2	2	1	2	3	2	1	4	4			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr3:141011306C>T	ENST00000508812.1	+	5	2582	c.675C>T	c.(673-675)caC>caT	p.H225H	RP11-438D8.2_ENST00000507698.1_RNA|ACPL2_ENST00000393010.2_Silent_p.H234H|ACPL2_ENST00000502783.1_Silent_p.H196H|ACPL2_ENST00000393007.1_Silent_p.H218H|ACPL2_ENST00000504264.1_Silent_p.H217H|ACPL2_ENST00000286353.4_Silent_p.H234H			Q8TE99	ACPL2_HUMAN	acid phosphatase-like 2	234						extracellular region	acid phosphatase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						ATTTCAGGCACCAGCCAAGTG	0.488													5	60					0	0	1	0	0	T	141011306	C	T	141011306	2	4	246	1	0	0	0	0	0	0	0	1	166	506	18	2		2	ACPL2	3	141011306	Silent	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08	21048820	141011306	57011124	26	12893											
GOLIM4	27333	broad.mit.edu	37	chr3	167747660	167747660	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgctgctgctgctgttcCtgctgccgtagtaagtgccc	4	12	11	14	1	0	0	0	0	0	0	1	0	1	0	4	0	7	8	4	0	2	3			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr3:167747660C>G	ENST00000470487.1	-	10	2030	c.1341G>C	c.(1339-1341)caG>caC	p.Q447H	GOLIM4_ENST00000309027.4_Missense_Mutation_p.Q419H	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	447	Gln-rich.|Glu-rich.				transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						gctgctgttcctgctgccgta	0.647													19	92					0	0	1	0	0	G	167747660	C	G	167747660	3	3	246	1	0	0	0	0	1	0	0	0	6605	680	24	4	777	4	GOLIM4	3	167747660	Missense_Mutation	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08	26736354	167747660	30274770	27	12894											
TNIK	23043	broad.mit.edu	37	chr3	170843819	170843819	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggcgtggcatctccacgCggtgggaggtcacgttcaga	6	9	15	11	4	4	1	2	0	2	1	5	2	4	2	1	5	0	2	1	5	0	1			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr3:170843819C>T	ENST00000436636.2	-	17	2239	c.1895G>A	c.(1894-1896)cGc>cAc	p.R632H	TNIK_ENST00000475336.1_Missense_Mutation_p.R548H|TNIK_ENST00000369326.5_Missense_Mutation_p.R603H|TNIK_ENST00000470834.1_Missense_Mutation_p.R603H|TNIK_ENST00000341852.6_Missense_Mutation_p.R548H|TNIK_ENST00000284483.8_Missense_Mutation_p.R632H|TNIK_ENST00000357327.5_Missense_Mutation_p.R603H|TNIK_ENST00000538048.1_Missense_Mutation_p.R577H|TNIK_ENST00000460047.1_Missense_Mutation_p.R577H|TNIK_ENST00000488470.1_Missense_Mutation_p.R577H	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	632	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CATCTCCACGCGGTGGGAGGT	0.577													40	63					0	0	1	0	0	T	170843819	C	T	170843819	3	4	246	1	0	0	0	0	1	0	0	0	16373	768	27	1	2255	1	TNIK	3	170843819	Missense_Mutation	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08	3096159	170843819	27178611	28	12895											
PPARGC1A	10891	broad.mit.edu	37	chr4	23816063	23816063	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acaactcggattgctccggcCctttcttggtggagttattg	6	14	11	10	2	1	0	0	0	1	0	3	2	2	2	2	4	2	2	2	4	2	5			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr4:23816063C>T	ENST00000264867.2	-	8	1162	c.1043G>A	c.(1042-1044)gGg>gAg	p.G348E	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	348					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TTGCTCCGGCCCTTTCTTGGT	0.532													26	53					0	0	1	0	0	T	23816063	C	T	23816063	3	4	246	1	0	0	0	0	1	0	0	0	12345	623	22	2	1377	2	PPARGC1A	4	23816063	Missense_Mutation	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08		23816063	167338213	29	12896											
CSN2	1447	broad.mit.edu	37	chr4	70823024	70823024	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgaactggggcaagtggctGagtcacagggtagatctggt	10	9	16	6	0	2	3	1	2	1	1	2	3	2	3	0	5	1	3	0	5	3	1			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr4:70823024G>A	ENST00000353151.3	-	5	654	c.643C>T	c.(643-645)Cag>Tag	p.Q215*		NM_001891.2	NP_001882.1	P05814	CASB_HUMAN	casein beta	215				TQPLAPVHN -> PEPSTTZABH (in Ref. 6; AA sequence).	calcium ion transport	extracellular region	calcium ion binding|enzyme inhibitor activity|transporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						GCAAGTGGCTGAGTCACAGGG	0.463													4	54					0	0	1	0	0	A	70823024	G	A	70823024	4	1	246	1	0	0	0	0	0	1	0	0	3973	1299	45	2	45	2	CSN2	4	70823024	Nonsense_Mutation	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08	47006961	70823024	120331252	30	12897											
ARHGAP10	79658	broad.mit.edu	37	chr4	148786095	148786095	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagaaagaaagaagtttgaGtttgtggaacctgtgagtat	15	11	12	3	0	0	5	0	2	0	3	0	6	0	6	1	1	1	3	1	1	6	3			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr4:148786095G>T	ENST00000336498.3	+	6	824	c.585G>T	c.(583-585)gaG>gaT	p.E195D		NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN	Rho GTPase activating protein 10	195	BAR.				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		AGAAGTTTGAGTTTGTGGAAC	0.378													14	41					3.27435e-08	3.89165e-08	1	1	0	T	148786095	G	T	148786095	3	4	246	1	0	0	0	0	1	0	0	0	859	1020	36	4	607	4	ARHGAP10	4	148786095	Missense_Mutation	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08	77963071	148786095	42368181	31	12898											
GRIA2	2891	broad.mit.edu	37	chr4	158257856	158257856	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttaatagtctctggtttTccttgggtgcctttatgcag	5	20	9	7	0	1	0	0	0	1	0	3	0	2	0	2	2	2	2	2	2	3	9			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr4:158257856T>A	ENST00000296526.7	+	11	2126	c.1801T>A	c.(1801-1803)Tcc>Acc	p.S601T	GRIA2_ENST00000393815.2_Missense_Mutation_p.S554T|GRIA2_ENST00000264426.9_Missense_Mutation_p.S601T|GRIA2_ENST00000507898.1_Missense_Mutation_p.S554T|GRIA2_ENST00000449365.1_Missense_Mutation_p.S554T	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	601					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	TCTCTGGTTTTCCTTGGGTGC	0.428													22	137					0	0	1	0	0	A	158257856	T	A	158257856	3	1	246	1	0	0	0	0	1	0	0	0	6809	1783	62	5	1843	5	GRIA2	4	158257856	Missense_Mutation	SNP	T	TCGA-KK-A5A1-01A-11D-A29Q-08	9471761	158257856	32896420	32	12899											
ADAM29	11086	broad.mit.edu	37	chr4	175898787	175898788	+	Frame_Shift_Ins	INS	-	-	A																															tgtaaaaaaagtaaaccaatINSaaaaaagcagcaagatgttc																										TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr4:175898787_175898788insA	ENST00000359240.3	+	5	2781_2782	c.2111_2112insA	c.(2110-2112)aaafs	p.K704fs	RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000514159.1_Frame_Shift_Ins_p.K704fs|ADAM29_ENST00000404450.4_Frame_Shift_Ins_p.K704fs|ADAM29_ENST00000445694.1_Frame_Shift_Ins_p.K704fs	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	704					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AGTAAACCAATAAAAAAGCAGC	0.342													8	53	---	---	---	---						A	175898788	-	A	175898787	7	5	246	1	0	1	1	0	0	0	0	0	246	1406	49	0	2113	0	ADAM29	4	175898787	Frame_Shift_Ins	INS	-	TCGA-KK-A5A1-01A-11D-A29Q-08	17640931	175898787	15255489	33	12900											
KLKB1	3818	broad.mit.edu	37	chr4	187157946	187157946	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtacagcttgccatcgaGacatttataaaggagttgat	12	13	9	7	1	0	2	0	1	0	1	1	4	0	3	1	1	3	3	1	1	4	7			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr4:187157946G>T	ENST00000264690.6	+	5	527	c.340G>T	c.(340-342)Gac>Tac	p.D114Y	KLKB1_ENST00000513864.1_Missense_Mutation_p.D114Y	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	114	Apple 2.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		TTGCCATCGAGACATTTATAA	0.373													31	41					6.04164e-23	7.55205e-23	1	1	0	T	187157946	G	T	187157946	3	4	246	1	0	0	0	0	1	0	0	0	8455	942	33	4	354	4	KLKB1	4	187157946	Missense_Mutation	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08	11259159	187157946	3996330	34	12901											
PPIP5K2	23262	broad.mit.edu	37	chr5	102484976	102484976	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctgttattctcaatgcaCgagagaaattaattgcttgg	12	13	8	8	1	1	1	1	0	1	1	2	3	1	1	1	1	2	3	1	1	4	5			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr5:102484976C>T	ENST00000321521.9	+	8	1438	c.865C>T	c.(865-867)Cga>Tga	p.R289*	PPIP5K2_ENST00000414217.1_Nonsense_Mutation_p.R289*|PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000358359.3_Nonsense_Mutation_p.R289*			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	289					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TCTCAATGCACGAGAGAAATT	0.378													12	58					0	0	1	0	0	T	102484976	C	T	102484976	4	4	246	1	0	0	0	0	0	1	0	0	12382	528	19	1	891	1	PPIP5K2	5	102484976	Nonsense_Mutation	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08		102484976	78430284	35	12902											
CAMK4	814	broad.mit.edu	37	chr5	110814199	110814199	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagtatctctaaatgccaaGgacttggtaagtgtaaccaa	15	10	9	7	0	1	0	0	0	1	0	2	2	1	1	2	2	2	3	2	2	8	5			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr5:110814199G>T	ENST00000282356.4	+	9	1220	c.822G>T	c.(820-822)aaG>aaT	p.K274N	CAMK4_ENST00000512453.1_Missense_Mutation_p.K274N	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	274	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		TAAATGCCAAGGACTTGGTAA	0.303													9	35					0.000274275	0.000301287	1	1	0	T	110814199	G	T	110814199	3	4	246	1	0	0	0	0	1	0	0	0	2623	991	35	4	856	4	CAMK4	5	110814199	Missense_Mutation	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08	8329223	110814199	70101061	36	12903											
CEP120	153241	broad.mit.edu	37	chr5	122700259	122700259	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatgcagtttagacttagtTgcagattccaactttctttc	10	17	6	8	0	1	2	0	0	1	2	3	2	2	2	1	0	3	4	1	0	4	8			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr5:122700259T>C	ENST00000306467.5	-	18	2815	c.2511A>G	c.(2509-2511)gcA>gcG	p.A837A	CEP120_ENST00000306481.6_Silent_p.A811A|CEP120_ENST00000328236.5_Silent_p.A837A			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	837						centrosome				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						TAGACTTAGTTGCAGATTCCA	0.338													13	63					0	0	1	0	0	C	122700259	T	C	122700259	2	2	246	1	0	0	0	0	0	0	0	1	3268	1799	63	3		3	CEP120	5	122700259	Silent	SNP	T	TCGA-KK-A5A1-01A-11D-A29Q-08	11886060	122700259	58215001	37	12904											
VDAC1	7416	broad.mit.edu	37	chr5	133326754	133326754	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattccatttctctgtaaacGtcaggccgtactcagtccat	9	14	6	12	2	3	0	2	0	1	0	6	0	5	0	3	1	2	2	3	1	4	5			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr5:133326754G>A	ENST00000265333.3	-	4	453	c.209C>T	c.(208-210)aCg>aTg	p.T70M	VDAC1_ENST00000395044.3_Missense_Mutation_p.T70M|VDAC1_ENST00000466080.1_5'UTR|VDAC1_ENST00000395047.2_Missense_Mutation_p.T70M	NM_003374.2	NP_003365.1	P21796	VDAC1_HUMAN	voltage-dependent anion channel 1	70					apoptosis|interspecies interaction between organisms	mitochondrial nucleoid|mitochondrial outer membrane|plasma membrane|pore complex	porin activity|protein binding|voltage-gated anion channel activity			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		Dihydroxyaluminium(DB01375)	CTCTGTAAACGTCAGGCCGTA	0.458													20	124					0	0	1	0	0	A	133326754	G	A	133326754	3	1	246	1	0	0	0	0	1	0	0	0	17206	1145	40	1	666	1	VDAC1	5	133326754	Missense_Mutation	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08	10626495	133326754	47588506	38	12905											
SLC36A3	285641	broad.mit.edu	37	chr5	150667007	150667007	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcagatgttggaggtcaCgtgggctttttccaccatct	6	13	12	10	1	2	1	1	0	1	1	3	2	3	2	2	4	0	3	2	4	0	3	rs142449284	byFrequency	TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr5:150667007C>T	ENST00000335230.3	-	6	919	c.508G>A	c.(508-510)Gtg>Atg	p.V170M	SLC36A3_ENST00000377713.3_Missense_Mutation_p.V211M	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	170						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTGGAGGTCACGTGGGCTTTT	0.468													5	45					0	0	1	0	0	T	150667007	C	T	150667007	3	4	246	1	0	0	0	0	1	0	0	0	14650	536	19	1	924	1	SLC36A3	5	150667007	Missense_Mutation	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08	17340253	150667007	30248253	39	12906											
PANK3	79646	broad.mit.edu	37	chr5	167995897	167995897	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaatatttccgaatacttttTaaactctcaacttcttcttg	12	18	2	9	1	3	0	1	0	3	0	5	1	4	0	1	0	3	0	1	0	7	9			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr5:167995897T>A	ENST00000239231.6	-	2	451	c.135A>T	c.(133-135)ttA>ttT	p.L45F		NM_024594.3	NP_078870.1	Q9H999	PANK3_HUMAN	pantothenate kinase 3	45					coenzyme A biosynthetic process	cytoplasm|nucleus	ATP binding|pantothenate kinase activity			NS(1)|cervix(2)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0989)|OV - Ovarian serous cystadenocarcinoma(192;0.147)|Epithelial(171;0.188)		GAATACTTTTTAAACTCTCAA	0.413													8	115					0	0	1	0	0	A	167995897	T	A	167995897	3	1	246	1	0	0	0	0	1	0	0	0	11465	1751	61	5	1001	5	PANK3	5	167995897	Missense_Mutation	SNP	T	TCGA-KK-A5A1-01A-11D-A29Q-08	17328890	167995897	12919363	40	12907											
MAML1	9794	broad.mit.edu	37	chr5	179193305	179193305	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccagatgtccacatggcagCagacggggccctcccacagt	9	5	12	15	1	0	2	0	0	0	2	2	2	2	2	4	3	1	2	4	3	0	0			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr5:179193305C>T	ENST00000292599.3	+	2	1557	c.1294C>T	c.(1294-1296)Cag>Tag	p.Q432*	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	mastermind-like 1 (Drosophila)	432					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CACATGGCAGCAGACGGGGCC	0.612													5	278					0	0	1	0	0	T	179193305	C	T	179193305	4	4	246	1	0	0	0	0	0	1	0	0	9255	711	25	2	1300	2	MAML1	5	179193305	Nonsense_Mutation	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08	11197408	179193305	1721955	41	12908											
RASGEF1C	255426	broad.mit.edu	37	chr5	179564645	179564645	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatgcacaggtggcagaccCgggccaggagctcccggggc	7	3	17	14	3	0	1	0	0	0	1	1	3	1	2	3	6	2	3	3	6	0	0			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr5:179564645C>T	ENST00000393371.2	-	2	541	c.245G>A	c.(244-246)cGg>cAg	p.R82Q	RASGEF1C_ENST00000361132.4_Missense_Mutation_p.R82Q			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	82	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTGGCAGACCCGGGCCAGGAG	0.637													7	48					0	0	1	0	0	T	179564645	C	T	179564645	3	4	246	1	0	0	0	0	1	0	0	0	13123	652	23	1	1203	1	RASGEF1C	5	179564645	Missense_Mutation	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08	371340	179564645	1350615	42	12909											
ZBTB22	0	broad.mit.edu	37	chr6	33283001	33283001	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccgcccaggcggtgccggcGctcacagtgtcctcggtggc	3	6	15	17	5	1	0	1	0	0	0	3	0	2	0	4	5	1	1	4	5	0	0			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr6:33283001G>A	ENST00000431845.2	-	2	1844	c.1693C>T	c.(1693-1695)Cgc>Tgc	p.R565C	ZBTB22_ENST00000418724.1_Missense_Mutation_p.R565C	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	565					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						CGGTGCCGGCGCTCACAGTGT	0.672													8	63					0	0	1	0	0	A	33283001	G	A	33283001	3	1	246	1	0	0	0	0	1	0	0	0	17589	1087	38	1	215	1	ZBTB22	6	33283001	Missense_Mutation	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08		33283001	137832066	43	12910											
HIVEP2	3097	broad.mit.edu	37	chr6	143074327	143074327	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttgctgctgtgaaagtccaActgcttgtcatccacacaac	10	11	7	13	0	1	1	1	1	0	0	3	1	3	1	2	0	5	3	2	0	3	2			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr6:143074327A>G	ENST00000367603.2	-	10	8000	c.7258T>C	c.(7258-7260)Ttg>Ctg	p.L2420L	RP1-67K17.3_ENST00000437067.1_RNA|HIVEP2_ENST00000367604.1_Silent_p.L2420L|HIVEP2_ENST00000012134.2_Silent_p.L2420L	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2420					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TGAAAGTCCAACTGCTTGTCA	0.428													10	246					0	0	1	0	0	G	143074327	A	G	143074327	2	3	246	1	0	0	0	0	0	0	0	1	7228	40	2	3		3	HIVEP2	6	143074327	Silent	SNP	A	TCGA-KK-A5A1-01A-11D-A29Q-08	109791326	143074327	28040740	44	12911											
QKI	9444	broad.mit.edu	37	chr6	163899929	163899929	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caatgagggataaaaaaaagGtaagtccttgaaaatggact	19	8	10	4	0	0	2	0	2	0	0	1	4	1	4	1	3	0	1	1	3	8	3			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr6:163899929G>T	ENST00000361752.3	+	3	953		c.e3+1		QKI_ENST00000392127.2_Splice_Site|QKI_ENST00000424802.3_Splice_Site|QKI_ENST00000453779.2_Splice_Site|QKI_ENST00000275262.7_Splice_Site|QKI_ENST00000361195.2_Splice_Site	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding						mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		TAAAAAAAAGGTAAGTCCTTG	0.348													9	42					0.00829132	0.00884001	1	1	0	T	163899929	G	T	163899929	5	4	246	1	0	0	0	0	0	0	1	0	12925	1275	44	4	413	4	QKI	6	163899929	Splice_Site	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08	20825602	163899929	7215138	45	12912											
CTTNBP2	83992	broad.mit.edu	37	chr7	117432774	117432774	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccacgctcttcctcaaggCgggcagccagcttcttgtgc	5	10	11	15	2	3	0	1	0	2	0	4	0	4	0	3	2	4	3	3	2	1	3			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr7:117432774C>T	ENST00000160373.3	-	4	567	c.476G>A	c.(475-477)cGc>cAc	p.R159H	CTTNBP2_ENST00000487820.1_5'UTR	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	159										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TTCCTCAAGGCGGGCAGCCAG	0.507													8	110					0	0	1	0	0	T	117432774	C	T	117432774	3	4	246	1	0	0	0	0	1	0	0	0	4069	768	27	1	4595	1	CTTNBP2	7	117432774	Missense_Mutation	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08		117432774	41705889	46	12913											
DENND2A	27147	broad.mit.edu	37	chr7	140267046	140267046	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcgcctgcttcagccgggacTtcacgttgaccaggcgctgg	5	8	14	14	4	2	1	2	1	0	0	2	2	2	2	3	3	2	3	3	3	0	3			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr7:140267046T>G	ENST00000275884.6	-	8	2036	c.1619A>C	c.(1618-1620)aAg>aCg	p.K540T	DENND2A_ENST00000537639.1_Missense_Mutation_p.K540T|DENND2A_ENST00000496613.1_Missense_Mutation_p.K540T|DENND2A_ENST00000492720.1_Missense_Mutation_p.K540T			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	540										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					CAGCCGGGACTTCACGTTGAC	0.562													11	76					0	0	1	0	0	G	140267046	T	G	140267046	3	3	246	1	0	0	0	0	1	0	0	0	4457	1609	56	5	1458	5	DENND2A	7	140267046	Missense_Mutation	SNP	T	TCGA-KK-A5A1-01A-11D-A29Q-08	22834272	140267046	18871617	47	12914											
PXDNL	137902	broad.mit.edu	37	chr8	52359718	52359718	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggccttccacagggagctgCcctcctgcaaaaagaggtaa	11	7	11	12	0	0	1	0	0	0	1	2	2	2	2	4	3	3	3	4	3	3	2			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr8:52359718C>A	ENST00000356297.4	-	12	1471	c.1371G>T	c.(1369-1371)ggG>ggT	p.G457G	PXDNL_ENST00000543296.1_Silent_p.G457G	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	457	Ig-like C2-type 3.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CAGGGAGCTGCCCTCCTGCAA	0.517													6	111					0.00198382	0.00214667	1	1	0	A	52359718	C	A	52359718	2	1	246	1	0	0	0	0	0	0	0	1	12900	726	26	4		4	PXDNL	8	52359718	Silent	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08		52359718	94004304	48	12915											
ASPH	444	broad.mit.edu	37	chr8	62489335	62489335	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagggtctcagaatacctgcGccttcccatatcttgctcgt	8	12	8	13	2	2	1	1	0	2	1	5	1	3	1	3	1	3	1	3	1	4	4			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr8:62489335G>A	ENST00000541428.1	-	16	1218	c.1058C>T	c.(1057-1059)gCg>gTg	p.A353V	ASPH_ENST00000379454.4_Missense_Mutation_p.A382V	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	382					muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	GAATACCTGCGCCTTCCCATA	0.378													37	62					0	0	1	0	0	A	62489335	G	A	62489335	3	1	246	1	0	0	0	0	1	0	0	0	1052	1087	38	1	1171	1	ASPH	8	62489335	Missense_Mutation	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08	10129617	62489335	83874687	49	12916											
RALYL	138046	broad.mit.edu	37	chr8	85799876	85799876	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggaagagagtctagtgctGatccaagaggaatgtgtgtc	11	11	14	5	0	1	3	0	1	1	2	3	6	2	5	1	2	1	1	1	2	4	2			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr8:85799876G>T	ENST00000521268.1	+	8	1828	c.723G>T	c.(721-723)ctG>ctT	p.L241L	RALYL_ENST00000522455.1_Silent_p.L241L|RALYL_ENST00000523850.1_Silent_p.L168L|RALYL_ENST00000521376.1_Intron|RALYL_ENST00000518566.1_Silent_p.L230L|RALYL_ENST00000517638.1_Silent_p.L254L|RALYL_ENST00000521695.1_Silent_p.L241L	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	241							identical protein binding|nucleotide binding|RNA binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						GTCTAGTGCTGATCCAAGAGG	0.498													15	108					4.7546e-09	5.69767e-09	1	1	0	T	85799876	G	T	85799876	2	4	246	1	0	0	0	0	0	0	0	1	13072	1277	45	4		4	RALYL	8	85799876	Silent	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08	23310541	85799876	60564146	50	12917											
DCAF13	25879	broad.mit.edu	37	chr8	104442877	104442877	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgtgcatctgacaggaataTagtactgtacgatatgaggc	12	12	11	6	1	1	2	0	2	1	0	1	4	1	3	0	2	3	3	0	2	6	6			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr8:104442877T>C	ENST00000297579.5	+	6	1395	c.1118T>C	c.(1117-1119)aTa>aCa	p.I373T	DCAF13_ENST00000521999.1_3'UTR	NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	221					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						GACAGGAATATAGTACTGTAC	0.368													66	113					0	0	1	0	0	C	104442877	T	C	104442877	3	2	246	1	0	0	0	0	1	0	0	0	4290	1406	49	3	1140	3	DCAF13	8	104442877	Missense_Mutation	SNP	T	TCGA-KK-A5A1-01A-11D-A29Q-08	18643001	104442877	41921145	51	12918											
TSTD2	158427	broad.mit.edu	37	chr9	100389704	100389705	+	Frame_Shift_Ins	INS	-	-	T																															tctttgcaaacgagtatttcINSttttttgtactgccatctaa																										TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr9:100389704_100389705insT	ENST00000341170.4	-	2	522_523	c.140_141insA	c.(139-141)aaafs	p.K47fs	TSTD2_ENST00000375172.2_5'UTR|TSTD2_ENST00000354801.2_5'UTR	NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like domain containing 2	47										large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						ACGAGTATTTCTTTTTTGTACT	0.342													23	70	---	---	---	---						T	100389705	-	T	100389704	7	5	246	1	0	1	1	0	0	0	0	0	16737	912	32	0	1445	0	TSTD2	9	100389704	Frame_Shift_Ins	INS	-	TCGA-KK-A5A1-01A-11D-A29Q-08		100389704	40823727	52	12919											
LHX2	9355	broad.mit.edu	37	chr9	126783459	126783459	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagaagaccaagcgcatgcGcacgtccttcaagcaccacc	12	4	8	17	3	1	2	1	0	0	2	2	2	2	2	5	0	3	3	5	0	3	1			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr9:126783459G>A	ENST00000373615.4	+	4	1548	c.809G>A	c.(808-810)cGc>cAc	p.R270H		NM_004789.3	NP_004780.3	P50458	LHX2_HUMAN	LIM homeobox 2	270						nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)	10						AAGCGCATGCGCACGTCCTTC	0.572													7	92					0	0	1	0	0	A	126783459	G	A	126783459	3	1	246	1	0	0	0	0	1	0	0	0	8811	1087	38	1	823	1	LHX2	9	126783459	Missense_Mutation	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08	26393755	126783459	14429972	53	12920											
CCBL1	883	broad.mit.edu	37	chr9	131600404	131600404	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagcagtcaaaaaagggttCgatgatgatgacctgatata	15	10	11	5	1	1	4	1	4	0	0	2	5	1	4	1	1	1	3	1	1	6	4			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr9:131600404C>A	ENST00000436267.2	-	7	795	c.646G>T	c.(646-648)Gaa>Taa	p.E216*	CCBL1_ENST00000483599.1_5'UTR|CCBL1_ENST00000320665.6_Nonsense_Mutation_p.E72*|CCBL1_ENST00000302586.3_Nonsense_Mutation_p.E122*			Q16773	KAT1_HUMAN	cysteine conjugate-beta lyase, cytoplasmic	122					kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process	cytosol|nucleus	1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)	AAAAAGGGTTCGATGATGATG	0.532													17	303					2.23348e-06	2.53012e-06	1	1	0	A	131600404	C	A	131600404	4	1	246	1	0	0	0	0	0	1	0	0	2750	893	31	4	940	4	CCBL1	9	131600404	Nonsense_Mutation	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08	4816945	131600404	9613027	54	12921											
NOTCH1	4851	broad.mit.edu	37	chr9	139391807	139391807	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggtgggcgtgccccccagCggggctccgtgcagctgcgg	3	5	19	14	4	0	0	0	0	0	0	1	0	1	0	4	5	5	3	4	5	0	0			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr9:139391807C>T	ENST00000277541.6	-	34	6459	c.6384G>A	c.(6382-6384)ccG>ccA	p.P2128P		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2128					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGCCCCCCAGCGGGGCTCCGT	0.706			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			4	61					0	0	1	0	0	T	139391807	C	T	139391807	2	4	246	1	0	0	0	0	0	0	0	1	10594	755	27	1		1	NOTCH1	9	139391807	Silent	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08	7791403	139391807	1821624	55	12922											
PRF1	5551	broad.mit.edu	37	chr10	72358721	72358721	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcaggcagtcctccacctcGttgtccgtgagcccttccag	5	10	10	16	2	1	1	1	1	0	0	6	1	5	1	6	1	1	2	6	1	0	2	rs150053969		TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr10:72358721G>A	ENST00000441259.1	-	3	916	c.756C>T	c.(754-756)aaC>aaT	p.N252N	PRF1_ENST00000373209.2_Silent_p.N252N	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	252	MACPF.		N -> S (in FHL2; dbSNP:rs28933375).		apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						CCTCCACCTCGTTGTCCGTGA	0.637			M			"various leukaemia, lymphoma"	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				11	69					0	0	1	0	0	A	72358721	G	A	72358721	2	1	246	1	0	0	0	0	0	0	0	1	12530	1136	40	1		1	PRF1	10	72358721	Silent	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08		72358721	63176026	56	12923											
P4HA1	5033	broad.mit.edu	37	chr10	74804782	74804782	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgtctccaagtctcctgttaTtgggtttgaaatggtggctc	6	15	11	9	1	2	1	0	1	2	0	5	1	2	1	2	3	0	3	2	3	3	3			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr10:74804782T>C	ENST00000412021.2	-	10	1438	c.1105A>G	c.(1105-1107)Ata>Gta	p.I369V	P4HA1_ENST00000263556.3_Intron|P4HA1_ENST00000394890.2_Missense_Mutation_p.I369V|P4HA1_ENST00000307116.2_Missense_Mutation_p.I369V|P4HA1_ENST00000440381.1_Intron|P4HA1_ENST00000373008.2_Intron	NM_001142595.1	NP_001136067.1	P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	369						endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TCTCCTGTTATTGGGTTTGAA	0.388													9	53					0	0	1	0	0	C	74804782	T	C	74804782	3	2	246	1	0	0	0	0	1	0	0	0	11403	1493	52	3	602	3	P4HA1	10	74804782	Missense_Mutation	SNP	T	TCGA-KK-A5A1-01A-11D-A29Q-08	2446061	74804782	60729965	57	12924											
PSD	5662	broad.mit.edu	37	chr10	104173704	104173704	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaagaggggcaagtggggCgggagctggtgggtcgggcc	6	6	22	7	2	1	1	1	0	0	1	2	2	1	2	1	8	1	2	1	8	2	1			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr10:104173704C>T	ENST00000020673.5	-	5	1901	c.1375G>A	c.(1375-1377)Gcc>Acc	p.A459T	PSD_ENST00000406432.1_Missense_Mutation_p.A459T	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	459	Pro-rich.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GCAAGTGGGGCGGGAGCTGGT	0.657													12	141					0	0	1	0	0	T	104173704	C	T	104173704	3	4	246	1	0	0	0	0	1	0	0	0	12695	768	27	1	1751	1	PSD	10	104173704	Missense_Mutation	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08	29368922	104173704	31361043	58	12925											
GPAM	57678	broad.mit.edu	37	chr10	113920533	113920534	+	Frame_Shift_Ins	INS	-	-	A																															gcatgcattactacatcttcINStgaatttcctgagaacccca																										TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr10:113920533_113920534insA	ENST00000348367.4	-	16	1784_1785	c.1587_1588insT	c.(1585-1590)tcaagafs	p.R530fs	GPAM_ENST00000423155.1_Frame_Shift_Ins_p.R530fs|GPAM_ENST00000369425.1_Frame_Shift_Ins_p.R530fs			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	530					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		ACTACATCTTCTGAATTTCCTG	0.446													18	45	---	---	---	---						A	113920534	-	A	113920533	7	5	246	1	0	1	1	0	0	0	0	0	6628	922	32	0	926	0	GPAM	10	113920533	Frame_Shift_Ins	INS	-	TCGA-KK-A5A1-01A-11D-A29Q-08	9746829	113920533	21614214	59	12926											
OR52E4	390081	broad.mit.edu	37	chr11	5906107	5906107	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggcctgtgcacccattaaGatcaacataatctatgggct	11	12	8	10	0	2	1	1	0	1	1	2	1	2	1	2	2	2	2	2	2	4	4			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr11:5906107G>T	ENST00000316987.2	+	1	607	c.585G>T	c.(583-585)aaG>aaT	p.K195N		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACCCATTAAGATCAACATAA	0.453													13	161					2.27111e-07	2.65573e-07	1	1	0	T	5906107	G	T	5906107	3	4	246	1	0	0	0	0	1	0	0	0	11164	933	33	4	587	4	OR52E4	11	5906107	Missense_Mutation	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08		5906107	129100409	60	12927											
TUB	7275	broad.mit.edu	37	chr11	8120328	8120328	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacttgatgggcaccaagtTcactgtttatgacaatggag	12	11	10	8	0	1	2	1	2	0	0	1	3	1	3	1	2	1	3	1	2	4	4			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr11:8120328T>C	ENST00000305253.4	+	10	1428	c.1187T>C	c.(1186-1188)tTc>tCc	p.F396S	TUB_ENST00000534099.1_Missense_Mutation_p.F347S|TUB_ENST00000299506.2_Missense_Mutation_p.F341S	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN	tubby bipartite transcription factor	341					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		GGCACCAAGTTCACTGTTTAT	0.502											OREG0020732	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	144					0	0	1	0	0	C	8120328	T	C	8120328	3	2	246	1	0	0	0	0	1	0	0	0	16804	1783	62	3	1267	3	TUB	11	8120328	Missense_Mutation	SNP	T	TCGA-KK-A5A1-01A-11D-A29Q-08	2214221	8120328	126886188	61	12928											
OR4S1	256148	broad.mit.edu	37	chr11	48328565	48328565	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtccctccaccaccctggCtgctgacaaacttatcatcc	8	10	5	18	1	1	1	1	1	0	0	5	1	4	1	5	1	2	2	5	1	2	1			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr11:48328565C>A	ENST00000319988.1	+	1	791	c.791C>A	c.(790-792)gCt>gAt	p.A264D		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						ACCACCCTGGCTGCTGACAAA	0.478													6	167					0.0381472	0.0400822	1	1	0	A	48328565	C	A	48328565	3	1	246	1	0	0	0	0	1	0	0	0	11130	797	28	4	793	4	OR4S1	11	48328565	Missense_Mutation	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08	40208237	48328565	86677951	62	12929											
SYVN1	84447	broad.mit.edu	37	chr11	64897328	64897328	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcatggccctccagagctcGtagctcctctggggtcagcc	5	9	11	16	1	3	1	2	0	1	1	6	1	5	1	4	3	3	3	4	3	1	1			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr11:64897328G>C	ENST00000526060.1	-	14	1657	c.1465C>G	c.(1465-1467)Cga>Gga	p.R489G	SYVN1_ENST00000307289.6_Missense_Mutation_p.R438G|SYVN1_ENST00000377190.3_Missense_Mutation_p.R490G|SYVN1_ENST00000294256.8_Missense_Mutation_p.R489G			Q86TM6	SYVN1_HUMAN	synovial apoptosis inhibitor 1, synoviolin	490					ER-associated protein catabolic process|response to stress	endoplasmic reticulum membrane|integral to membrane|nucleus	acid-amino acid ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						TCCAGAGCTCGTAGCTCCTCT	0.662													16	37					0	0	1	0	0	C	64897328	G	C	64897328	3	2	246	1	0	0	0	0	1	0	0	0	15544	1153	40	4	397	4	SYVN1	11	64897328	Missense_Mutation	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08	16568763	64897328	70109188	63	12930											
ZDHHC24	254359	broad.mit.edu	37	chr11	66307206	66307206	+	Frame_Shift_Del	DEL	G	G	-																															ccgcagcagcagcatcccatGgaagagcagcccagccccgc																										TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr11:66307206delG	ENST00000310442.3	-	3	883	c.649delC	c.(649-651)atfs	p.H217fs	ZDHHC24_ENST00000526986.1_Intron	NM_207340.1	NP_997223.1	Q6UX98	ZDH24_HUMAN	zinc finger, DHHC-type containing 24	217	Leu-rich.					integral to membrane	acyltransferase activity|zinc ion binding			endometrium(1)|large_intestine(3)|ovary(1)|prostate(1)|skin(1)	7						AGCATCCCATGGAAGAGCAGC	0.652													12	26	---	---	---	---						-	66307206	G	-	66307206	7	5	246	1	0	1	0	1	0	0	0	0	17673	1348	47	0	209	0	ZDHHC24	11	66307206	Frame_Shift_Del	DEL	G	TCGA-KK-A5A1-01A-11D-A29Q-08	1409878	66307206	68699310	64	12931											
GPR83	10888	broad.mit.edu	37	chr11	94113782	94113782	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatcgccaatcatattacAcagccacagtttcttggcca	12	10	5	14	1	2	0	1	0	1	0	3	0	2	0	3	1	2	1	3	1	3	4			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr11:94113782A>T	ENST00000243673.2	-	4	976	c.805T>A	c.(805-807)Tgt>Agt	p.C269S	GPR83_ENST00000539203.2_Missense_Mutation_p.C227S	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	269						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ATCATATTACACAGCCACAGT	0.522													26	25					0	0	1	0	0	T	94113782	A	T	94113782	3	4	246	1	0	0	0	0	1	0	0	0	6753	159	6	5	470	5	GPR83	11	94113782	Missense_Mutation	SNP	A	TCGA-KK-A5A1-01A-11D-A29Q-08	27806576	94113782	40892734	65	12932											
WNK1	65125	broad.mit.edu	37	chr12	993363	993363	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtgagtcctgtgccagaaagCcgattacgagaatcaaaagt	14	8	11	8	2	1	3	1	1	0	2	2	5	2	3	3	0	3	0	3	0	5	1			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr12:993363C>T	ENST00000537687.1	+	18	5221	c.4578C>T	c.(4576-4578)agC>agT	p.S1526S	WNK1_ENST00000340908.4_Silent_p.S859S|WNK1_ENST00000530271.2_Silent_p.S1764S|WNK1_ENST00000315939.6_Silent_p.S1266S|WNK1_ENST00000535572.1_Silent_p.S1019S	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1266					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TGCCAGAAAGCCGATTACGAG	0.408													4	139					0	0	1	0	0	T	993363	C	T	993363	2	4	246	1	0	0	0	0	0	0	0	1	17437	738	26	2		2	WNK1	12	993363	Silent	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08		993363	132858532	66	12933											
AQP6	363	broad.mit.edu	37	chr12	50369276	50369276	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggtggggcccctgatgggagCcctcctggcctcactgatct	4	9	14	14	0	2	2	1	2	1	0	3	3	3	3	5	5	1	0	5	5	0	0			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr12:50369276C>G	ENST00000315520.5	+	4	1008	c.671C>G	c.(670-672)gCc>gGc	p.A224G	AQP6_ENST00000551733.1_Missense_Mutation_p.A50G	NM_001652.3	NP_001643.2	Q13520	AQP6_HUMAN	aquaporin 6, kidney specific	224					excretion|odontogenesis	integral to plasma membrane|transport vesicle membrane	anion channel activity|water channel activity			endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2)	13						CTGATGGGAGCCCTCCTGGCC	0.637													7	216					0	0	1	0	0	G	50369276	C	G	50369276	3	3	246	1	0	0	0	0	1	0	0	0	827	739	26	4	685	4	AQP6	12	50369276	Missense_Mutation	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08	49375913	50369276	83482619	67	12934											
MMP19	4327	broad.mit.edu	37	chr12	56232402	56232402	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctcacccagcatcatggCatccagttcactactgcaag	10	8	8	15	0	3	0	3	0	0	0	4	0	4	0	3	2	3	4	3	2	2	2			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr12:56232402C>T	ENST00000322569.4	-	6	974	c.883G>A	c.(883-885)Gcc>Acc	p.A295T	MMP19_ENST00000548629.1_Missense_Mutation_p.A272T|MMP19_ENST00000409200.3_Missense_Mutation_p.A213T	NM_002429.4	NP_002420.1	Q99542	MMP19_HUMAN	matrix metallopeptidase 19	295	Hemopexin-like 1.				angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						AGCATCATGGCATCCAGTTCA	0.607													40	36					0	0	1	0	0	T	56232402	C	T	56232402	3	4	246	1	0	0	0	0	1	0	0	0	9705	710	25	2	659	2	MMP19	12	56232402	Missense_Mutation	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08	5863126	56232402	77619493	68	12935											
ANO4	121601	broad.mit.edu	37	chr12	101505340	101505340	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaacacttctatttgaataGgaatttggtatggaattctt	13	16	7	5	0	2	1	0	1	2	0	2	3	2	3	0	3	1	1	0	3	7	8			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr12:101505340G>A	ENST00000392979.3	+	23	2558		c.e23-1		ANO4_ENST00000299222.9_Splice_Site|ANO4_ENST00000392977.3_Splice_Site|ANO4_ENST00000550015.1_Splice_Site	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4							chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TATTTGAATAGGAATTTGGTA	0.333										HNSCC(74;0.22)			17	36					0	0	1	0	0	A	101505340	G	A	101505340	5	1	246	1	0	0	0	0	0	0	1	0	693	1014	35	2	2283	2	ANO4	12	101505340	Splice_Site	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08	45272938	101505340	32346555	69	12936											
CHST11	50515	broad.mit.edu	37	chr12	105150791	105150791	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaggtgacagacacgtgccGagccaacagcgccacaagcc	12	2	11	16	3	0	2	0	1	0	1	0	3	0	2	5	1	5	0	5	1	2	0			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr12:105150791G>A	ENST00000303694.5	+	3	708	c.269G>A	c.(268-270)cGa>cAa	p.R90Q	CHST11_ENST00000549260.1_Missense_Mutation_p.R85Q	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	90					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						GACACGTGCCGAGCCAACAGC	0.582													3	22					0	0	1	0	0	A	105150791	G	A	105150791	3	1	246	1	0	0	0	0	1	0	0	0	3421	1058	37	1	279	1	CHST11	12	105150791	Missense_Mutation	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08	3645451	105150791	28701104	70	12937											
ACACB	32	broad.mit.edu	37	chr12	109577338	109577338	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagaagcaaacctcatccCgagccaggagccctttccag	12	6	8	15	1	2	1	2	0	0	1	4	3	4	2	5	1	4	1	5	1	2	1	rs142445607	byFrequency	TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr12:109577338C>A	ENST00000338432.7	+	2	247	c.128C>A	c.(127-129)cCg>cAg	p.P43Q	ACACB_ENST00000377848.3_Missense_Mutation_p.P43Q|ACACB_ENST00000377854.5_Missense_Mutation_p.P43Q			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	43					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	AACCTCATCCCGAGCCAGGAG	0.542													5	142					0.000602214	0.00065655	1	1	0	A	109577338	C	A	109577338	3	1	246	1	0	0	0	0	1	0	0	0	107	652	23	4	130	4	ACACB	12	109577338	Missense_Mutation	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08	4426547	109577338	24274557	71	12938											
RIMBP2	23504	broad.mit.edu	37	chr12	130921640	130921640	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggactccagaacttgctaatGgctttgattggggtgcaggt	8	12	14	7	0	0	2	0	1	0	1	1	3	1	3	1	5	3	3	1	5	2	4			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr12:130921640G>T	ENST00000261655.4	-	10	1965	c.1802C>A	c.(1801-1803)cCa>cAa	p.P601Q	RIMBP2_ENST00000536002.1_Missense_Mutation_p.P509Q|RIMBP2_ENST00000535703.1_Missense_Mutation_p.P509Q	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	601	Pro-rich.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		ACTTGCTAATGGCTTTGATTG	0.652													4	14					0.00024832	0.000274858	1	1	0	T	130921640	G	T	130921640	3	4	246	1	0	0	0	0	1	0	0	0	13413	1348	47	4	1396	4	RIMBP2	12	130921640	Missense_Mutation	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08	21344302	130921640	2930255	72	12939											
STARD13	90627	broad.mit.edu	37	chr13	33700314	33700314	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtggactatgagaggaacGccaaagacagccttgtcttt	12	9	11	9	2	1	2	0	1	1	2	1	5	1	4	2	2	2	0	2	2	3	3			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr13:33700314G>A	ENST00000336934.5	-	7	2102	c.1986C>T	c.(1984-1986)ggC>ggT	p.G662G	STARD13_ENST00000399365.3_Silent_p.G544G|STARD13_ENST00000255486.4_Silent_p.G654G	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	662					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		TGAGAGGAACGCCAAAGACAG	0.488													26	158					0	0	1	0	0	A	33700314	G	A	33700314	2	1	246	1	0	0	0	0	0	0	0	1	15312	1074	38	1		1	STARD13	13	33700314	Silent	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08		33700314	81469564	73	12940											
DIAPH3	81624	broad.mit.edu	37	chr13	60435606	60435606	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatatcagggtacttctctTcacatatttctaccaggaaa	12	14	6	9	0	4	0	2	0	2	0	5	1	4	1	1	2	2	2	1	2	6	8			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr13:60435606T>G	ENST00000400324.4	-	22	2892	c.2672A>C	c.(2671-2673)gAa>gCa	p.E891A	DIAPH3_ENST00000267215.4_Missense_Mutation_p.E891A|DIAPH3_ENST00000400320.1_Missense_Mutation_p.E845A|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400319.1_Missense_Mutation_p.E821A|DIAPH3_ENST00000400330.1_Missense_Mutation_p.E891A|DIAPH3_ENST00000377908.2_Missense_Mutation_p.E880A	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	891	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		GTACTTCTCTTCACATATTTC	0.368													7	58					0	0	1	0	0	G	60435606	T	G	60435606	3	3	246	1	0	0	0	0	1	0	0	0	4548	1783	62	5	957	5	DIAPH3	13	60435606	Missense_Mutation	SNP	T	TCGA-KK-A5A1-01A-11D-A29Q-08	26735292	60435606	54734272	74	12941											
SLC10A2	6555	broad.mit.edu	37	chr13	103701641	103701641	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	attggcatgattccttacatCctaagaatattgcggcaaag	13	12	8	8	1	0	2	0	1	0	1	2	2	2	2	2	2	2	2	2	2	5	6			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr13:103701641C>A	ENST00000245312.3	-	5	1513	c.917G>T	c.(916-918)gGa>gTa	p.G306V		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	306					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TTCCTTACATCCTAAGAATAT	0.428													20	87					3.51602e-12	4.32053e-12	1	1	0	A	103701641	C	A	103701641	3	1	246	1	0	0	0	0	1	0	0	0	14429	855	30	4	137	4	SLC10A2	13	103701641	Missense_Mutation	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08	43266035	103701641	11468237	75	12942											
RNF31	55072	broad.mit.edu	37	chr14	24617597	24617597	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actggaagtactgctgcttcGgacagagctcagcctgctat	9	10	11	11	1	1	1	1	0	0	1	2	3	1	3	1	2	6	5	1	2	3	3			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr14:24617597G>A	ENST00000324103.6	+	3	790	c.470G>A	c.(469-471)cGg>cAg	p.R157Q	RNF31_ENST00000557878.1_3'UTR|RNF31_ENST00000559275.1_5'UTR	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	157	Polyubiquitin-binding.				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		CTGCTGCTTCGGACAGAGCTC	0.547													12	38					0	0	1	0	0	A	24617597	G	A	24617597	3	1	246	1	0	0	0	0	1	0	0	0	13539	1116	39	1	480	1	RNF31	14	24617597	Missense_Mutation	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08		24617597	82731943	76	12943											
MDGA2	161357	broad.mit.edu	37	chr14	47426763	47426763	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcacccgtattggataggCtctcagtactctgcaactca	10	10	8	13	1	3	0	2	0	2	0	4	1	3	1	1	2	4	5	1	2	4	4			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr14:47426763C>G	ENST00000426342.1	-	9	1755	c.1009G>C	c.(1009-1011)Gcc>Ccc	p.A337P	MDGA2_ENST00000399232.2_Missense_Mutation_p.A635P|MDGA2_ENST00000439988.2_Missense_Mutation_p.A566P|MDGA2_ENST00000357362.3_Missense_Mutation_p.A337P	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	566					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						ATTGGATAGGCTCTCAGTACT	0.473													20	73					0	0	1	0	0	G	47426763	C	G	47426763	3	3	246	1	0	0	0	0	1	0	0	0	9457	797	28	4	1210	4	MDGA2	14	47426763	Missense_Mutation	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08	22809166	47426763	59922777	77	12944											
FAM181A	90050	broad.mit.edu	37	chr14	94395392	94395392	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcccggggagctggcgcAcctctgcaaggatgtggacg	6	8	15	12	3	1	0	0	0	1	0	2	3	2	3	2	5	2	3	2	5	1	1			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr14:94395392A>G	ENST00000267594.5	+	3	1254	c.947A>G	c.(946-948)cAc>cGc	p.H316R	FAM181A_ENST00000556222.1_Missense_Mutation_p.H254R|FAM181A_ENST00000557000.2_Missense_Mutation_p.H254R|FAM181A_ENST00000557719.1_Missense_Mutation_p.H254R	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	316										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						GAGCTGGCGCACCTCTGCAAG	0.667													15	57					0	0	1	0	0	G	94395392	A	G	94395392	3	3	246	1	0	0	0	0	1	0	0	0	5539	159	6	3	953	3	FAM181A	14	94395392	Missense_Mutation	SNP	A	TCGA-KK-A5A1-01A-11D-A29Q-08	46968629	94395392	12954148	78	12945											
AHNAK2	113146	broad.mit.edu	37	chr14	105405095	105405095	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagtgtcaggctggagatCtccagaaatggagtctactc	10	10	11	10	0	3	2	1	0	2	2	6	4	4	3	2	3	1	1	2	3	2	1			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr14:105405095C>A	ENST00000333244.5	-	7	16812	c.16693G>T	c.(16693-16695)Gat>Tat	p.D5565Y	AHNAK2_ENST00000557457.1_Missense_Mutation_p.D563Y	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5565						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGCTGGAGATCTCCAGAAATG	0.502													5	32					1	1	1	1	0	A	105405095	C	A	105405095	3	1	246	1	0	0	0	0	1	0	0	0	412	913	32	4	698	4	AHNAK2	14	105405095	Missense_Mutation	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08	11009703	105405095	1944445	79	12946			1	30		4	4	13556	N	G_C	2.622495e-05
AHNAK2	113146	broad.mit.edu	37	chr14	105409473	105409473	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccatccagctttgctctcggGgcctggacgtccacctccat	5	10	9	17	2	1	0	0	0	1	0	5	1	4	1	6	3	2	2	6	3	0	1			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr14:105409473G>T	ENST00000333244.5	-	7	12434	c.12315C>A	c.(12313-12315)gcC>gcA	p.A4105A	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4105						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTGCTCTCGGGGCCTGGACGT	0.577													147	233					1.33848e-58	1.68764e-58	1	1	0	T	105409473	G	T	105409473	2	4	246	1	0	0	0	0	0	0	0	1	412	1219	43	4		4	AHNAK2	14	105409473	Silent	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08	4378	105409473	1940067	80	12947			1	30		4	4	13556	N	G_C	2.622495e-05
AHNAK2	113146	broad.mit.edu	37	chr14	105417976	105417976	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gacctttcaggtccagcttgGggcccctgacttccacctgg	5	10	11	15	0	1	1	1	1	0	0	3	2	3	1	6	4	1	1	6	4	0	3			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr14:105417976G>A	ENST00000333244.5	-	7	3931	c.3812C>T	c.(3811-3813)cCc>cTc	p.P1271L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1271						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GTCCAGCTTGGGGCCCCTGAC	0.622													6	220					0	0	1	0	0	A	105417976	G	A	105417976	3	1	246	1	0	0	0	0	1	0	0	0	412	1232	43	2	13579	2	AHNAK2	14	105417976	Missense_Mutation	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08	8503	105417976	1931564	81	12948			1	30		4	4	13556	N	G_C	2.622495e-05
AHNAK2	113146	broad.mit.edu	37	chr14	105418650	105418650	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtagaagcaggctgaatgctGaggtcagtggtcttcaggtc	9	10	15	7	0	3	3	2	2	1	1	4	3	3	3	0	4	2	4	0	4	3	2			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr14:105418650G>A	ENST00000333244.5	-	7	3257	c.3138C>T	c.(3136-3138)ctC>ctT	p.L1046L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1046						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCTGAATGCTGAGGTCAGTGG	0.617													36	181					0	0	1	0	0	A	105418650	G	A	105418650	2	1	246	1	0	0	0	0	0	0	0	1	412	1277	45	2		2	AHNAK2	14	105418650	Silent	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08	674	105418650	1930890	82	12949			1	30		4	4	13556	N	G_C	2.622495e-05
CRIP1	1396	broad.mit.edu	37	chr14	105954583	105954583	+	Frame_Shift_Del	DEL	G	G	-																															gtgggaagacgctgacctctGggggccacgctgaggtaggt																										TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr14:105954583delG	ENST00000330233.7	+	2	1064	c.121delG	c.(121-123)ggfs	p.G42fs	CRIP1_ENST00000409393.2_Frame_Shift_Del_p.G42fs|CRIP1_ENST00000551180.1_Frame_Shift_Del_p.W9fs|CRIP1_ENST00000392531.3_Frame_Shift_Del_p.G42fs			P50238	CRIP1_HUMAN	cysteine-rich protein 1 (intestinal)	42	LIM zinc-binding.				cell proliferation	cytoplasm	zinc ion binding						Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.235)		GCTGACCTCTGGGGGCCACGC	0.652													10	94	---	---	---	---						-	105954583	G	-	105954583	7	5	246	1	0	1	0	1	0	0	0	0	3897	1348	47	0	127	0	CRIP1	14	105954583	Frame_Shift_Del	DEL	G	TCGA-KK-A5A1-01A-11D-A29Q-08	535933	105954583	1394957	83	12950											
VPS18	57617	broad.mit.edu	37	chr15	41192240	41192240	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tatctggacatgaaccgcttCgatctggccaaagagtattg	11	11	10	9	2	2	2	0	1	2	1	3	4	2	3	2	2	1	2	2	2	4	4			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr15:41192240C>T	ENST00000220509.5	+	4	1563	c.1224C>T	c.(1222-1224)ttC>ttT	p.F408F	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	408					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		TGAACCGCTTCGATCTGGCCA	0.632													7	106					0	0	1	0	0	T	41192240	C	T	41192240	2	4	246	1	0	0	0	0	0	0	0	1	17254	883	31	1		1	VPS18	15	41192240	Silent	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08		41192240	61339152	84	12951											
LRRC28	123355	broad.mit.edu	37	chr15	99901591	99901591	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagctgctttccttttcatCagggcagcgaaccgttttcc	7	13	9	12	2	2	0	2	0	0	0	4	2	4	0	3	1	4	4	3	1	2	5			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr15:99901591C>T	ENST00000301981.3	+	8	986	c.746C>T	c.(745-747)tCa>tTa	p.S249L	LRRC28_ENST00000558879.1_Intron|LRRC28_ENST00000422500.2_Missense_Mutation_p.S180L|LRRC28_ENST00000442993.2_3'UTR|LRRC28_ENST00000331450.5_Intron|LRRC28_ENST00000447360.2_Missense_Mutation_p.S249L	NM_144598.2	NP_653199.2	Q86X40	LRC28_HUMAN	leucine rich repeat containing 28	249										endometrium(2)|large_intestine(3)|lung(6)|prostate(1)	12	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00106)			TCCTTTTCATCAGGGCAGCGA	0.488											OREG0023509	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	16					0	0	1	0	0	T	99901591	C	T	99901591	3	4	246	1	0	0	0	0	1	0	0	0	9027	838	29	2	772	2	LRRC28	15	99901591	Missense_Mutation	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08	58709351	99901591	2629801	85	12952											
SMG1	23049	broad.mit.edu	37	chr16	18937327	18937327	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgccgccgccgccgccgcCgctgctcagccgagaccccg	3	3	14	21	8	1	1	1	0	0	1	1	2	1	1	9	1	3	2	9	1	0	0			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr16:18937327C>T	ENST00000446231.2	-	1	449	c.37G>A	c.(37-39)Ggc>Agc	p.G13S	SMG1_ENST00000389467.3_Missense_Mutation_p.G13S|SMG1_ENST00000567737.1_5'UTR			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	13	Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ccgccgccgccgctgcTCAGC	0.736													3	21					0	0	1	0	0	T	18937327	C	T	18937327	3	4	246	1	0	0	0	0	1	0	0	0	14849	652	23	1	11200	1	SMG1	16	18937327	Missense_Mutation	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08		18937327	71417426	86	12953											
DNAH3	55567	broad.mit.edu	37	chr16	20975100	20975100	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagagagaagagtagcttgTccttctcaaacagagaacgg	14	7	13	7	1	1	4	1	0	1	4	3	7	2	4	1	2	3	2	1	2	4	3			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr16:20975100T>C	ENST00000261383.3	-	53	10105	c.10106A>G	c.(10105-10107)gAc>gGc	p.D3369G	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3369					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GAGTAGCTTGTCCTTCTCAAA	0.488													5	121					0	0	1	0	0	C	20975100	T	C	20975100	3	2	246	1	0	0	0	0	1	0	0	0	4631	1667	58	3	2283	3	DNAH3	16	20975100	Missense_Mutation	SNP	T	TCGA-KK-A5A1-01A-11D-A29Q-08	2037773	20975100	69379653	87	12954											
CCDC102A	92922	broad.mit.edu	37	chr16	57550233	57550233	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagcctgggccagctccttcTtgagctcctccacccgcagc	5	8	9	19	1	1	1	0	1	1	0	4	1	4	1	6	1	4	3	6	1	0	2			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr16:57550233T>C	ENST00000258214.2	-	7	1637	c.1391A>G	c.(1390-1392)aAg>aGg	p.K464R		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	464										endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						CAGCTCCTTCTTGAGCTCCTC	0.667													3	25					0	0	1	0	0	C	57550233	T	C	57550233	3	2	246	1	0	0	0	0	1	0	0	0	2754	1609	56	3	273	3	CCDC102A	16	57550233	Missense_Mutation	SNP	T	TCGA-KK-A5A1-01A-11D-A29Q-08	36575133	57550233	32804520	88	12955											
TERF2IP	54386	broad.mit.edu	37	chr16	75690150	75690150	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaatacatataactatgtgtGatgatgatccacccacacct	15	11	5	10	0	0	3	0	3	0	0	1	3	1	3	3	0	2	0	3	0	5	4			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr16:75690150G>A	ENST00000300086.4	+	3	938	c.841G>A	c.(841-843)Gat>Aat	p.D281N		NM_018975.3	NP_061848.2	Q9NYB0	TE2IP_HUMAN	telomeric repeat binding factor 2, interacting protein	281	Asp/Glu-rich (acidic).				negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent	cytoplasm|nuclear telomere cap complex|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						AACTATGTGTGATGATGATCC	0.433													34	55					0	0	1	0	0	A	75690150	G	A	75690150	3	1	246	1	0	0	0	0	1	0	0	0	15822	1290	45	2	851	2	TERF2IP	16	75690150	Missense_Mutation	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08	18139917	75690150	14664603	89	12956											
DVL2	1856	broad.mit.edu	37	chr17	7137547	7137547	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtaaatcaccttcgtctccCcaaccccaccgcccccagtg	8	7	6	20	2	2	0	1	0	1	0	4	0	2	0	8	1	1	1	8	1	3	2			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr17:7137547C>T	ENST00000005340.5	-	1	317	c.35G>A	c.(34-36)gGg>gAg	p.G12E	DVL2_ENST00000575458.1_Missense_Mutation_p.G12E	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	12	DIX.|Poly-Gly.				canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						CTTCGTCTCCCCAACCCCACC	0.667													8	100					0	0	1	0	0	T	7137547	C	T	7137547	3	4	246	1	0	0	0	0	1	0	0	0	4862	623	22	2	2235	2	DVL2	17	7137547	Missense_Mutation	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08		7137547	74057663	90	12957											
CNTROB	116840	broad.mit.edu	37	chr17	7842864	7842864	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagctctgactctgaggttgGaggcagaacagcagcggtgc	10	7	15	9	1	2	3	0	2	2	1	2	4	2	4	0	4	5	4	0	4	2	1			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr17:7842864G>T	ENST00000380262.3	+	8	1886	c.961G>T	c.(961-963)Gag>Tag	p.E321*	CNTROB_ENST00000565740.1_Nonsense_Mutation_p.E321*|CNTROB_ENST00000563694.1_Nonsense_Mutation_p.E321*|CNTROB_ENST00000380255.3_Nonsense_Mutation_p.E321*	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	321					centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				TCTGAGGTTGGAGGCAGAACA	0.582													24	110					1.42536e-11	1.73678e-11	1	1	0	T	7842864	G	T	7842864	4	4	246	1	0	0	0	0	0	1	0	0	3674	1175	41	4	991	4	CNTROB	17	7842864	Nonsense_Mutation	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08	705317	7842864	73352346	91	12958											
MYH13	8735	broad.mit.edu	37	chr17	10265435	10265435	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatcaaagaaattactcacCagtcagcatgaactgatagg	17	8	8	8	0	3	3	3	2	0	1	3	4	3	3	1	1	3	1	1	1	6	2			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr17:10265435C>A	ENST00000418404.3	-	4	668	c.505_splice	c.e4+1	p.D169_splice	MYH13_ENST00000570743.1_Splice_Site_p.D169_splice|MYH13_ENST00000252172.4_Splice_Site_p.D169_splice			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	169	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AATTACTCACCAGTCAGCATG	0.468													8	188					1.58986e-06	1.82961e-06	1	1	0	A	10265435	C	A	10265435	5	1	246	1	0	0	0	0	0	0	1	0	10080	608	21	4	5459	4	MYH13	17	10265435	Splice_Site	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08	2422571	10265435	70929775	92	12959											
RPL19	6143	broad.mit.edu	37	chr17	37357515	37357517	+	In_Frame_Del	DEL	AAG	AAG	-																															ctagtgtcctccgctgtggcAagaagaaggtctggttagac																										TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr17:37357515_37357517delAAG	ENST00000579260.1	+	2	452_454	c.49_51delAAG	c.(49-51)del	p.K19del	RPL19_ENST00000225430.4_In_Frame_Del_p.K21del|RPL19_ENST00000579374.1_In_Frame_Del_p.K18del|RPL19_ENST00000582193.1_In_Frame_Del_p.K19del			P84098	RL19_HUMAN	ribosomal protein L19	21					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome			kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7						CCGCTGTGGCAAGAAGAAGGTCT	0.493													18	127	---	---	---	---						-	37357517	AAG	-	37357515	7	5	246	1	0	1	0	1	0	0	0	0	13618	131	5	0	61	0	RPL19	17	37357515	In_Frame_Del	DEL	AAG	TCGA-KK-A5A1-01A-11D-A29Q-08	27092080	37357515	43837695	93	12960											
CDK12	51755	broad.mit.edu	37	chr17	37619371	37619371	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtcggagtccactccccagGtgagctatttgtctaacagt	9	11	10	11	1	1	1	0	1	1	0	4	2	3	2	3	2	2	1	3	2	2	3			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr17:37619371G>A	ENST00000447079.4	+	1	1079		c.e1+1		CDK12_ENST00000430627.2_Splice_Site	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12						mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						CACTCCCCAGGTGAGCTATTT	0.552			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)			18	43					0	0	1	0	0	A	37619371	G	A	37619371	5	1	246	1	0	0	0	0	0	0	1	0	3150	1275	44	2	1049	2	CDK12	17	37619371	Splice_Site	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08	261856	37619371	43575839	94	12961											
CDK12	51755	broad.mit.edu	37	chr17	37627847	37627860	+	Frame_Shift_Del	DEL	ACTCACTCAAAGAC	ACTCACTCAAAGAC	-																															cttcaactttgcccccttctActcactcaaagacatctgct																										TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr17:37627847_37627860delACTCACTCAAAGAC	ENST00000447079.4	+	2	1795_1808	c.1762_1775delACTCACTCAAAGAC	c.(1762-1776)afs	p.THSKT588fs	CDK12_ENST00000430627.2_Frame_Shift_Del_p.THSKT588fs	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	588					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						GCCCCCTTCTACTCACTCAAAGACATCTGCTGTG	0.491			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)			78	170	---	---	---	---						-	37627860	ACTCACTCAAAGAC	-	37627847	7	5	246	1	0	1	0	1	0	0	0	0	3150	391	14	0	1768	0	CDK12	17	37627847	Frame_Shift_Del	DEL	ACTCACTCAAAGAC	TCGA-KK-A5A1-01A-11D-A29Q-08	8476	37627847	43567363	95	12962											
KRT23	25984	broad.mit.edu	37	chr17	39092708	39092708	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagggggtgggcagctccGcgtggtgaaggacagggaga	8	5	20	8	2	0	2	0	1	0	1	2	4	2	3	2	6	1	2	2	6	1	0			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr17:39092708G>A	ENST00000209718.3	-	2	572	c.148C>T	c.(148-150)Cgg>Tgg	p.R50W	KRT23_ENST00000436344.3_Intron|AC004231.2_ENST00000418393.1_RNA	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	50	Head.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				GGGCAGCTCCGCGTGGTGAAG	0.687													7	147					0	0	1	0	0	A	39092708	G	A	39092708	3	1	246	1	0	0	0	0	1	0	0	0	8503	1086	38	1	1152	1	KRT23	17	39092708	Missense_Mutation	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08	1464861	39092708	42102502	96	12963											
SLC4A1	6521	broad.mit.edu	37	chr17	42333044	42333044	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggagggtatgctgaccttGccagggaaataggagctgtt	10	9	16	6	0	0	1	0	1	0	0	0	5	0	4	2	4	3	4	2	4	3	4			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr17:42333044G>T	ENST00000262418.6	-	14	1952	c.1797C>A	c.(1795-1797)ggC>ggA	p.G599G		NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	599	Involved in anion transport.|Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		TGCTGACCTTGCCAGGGAAAT	0.577													8	62					3.09899e-07	3.59482e-07	1	1	0	T	42333044	G	T	42333044	2	4	246	1	0	0	0	0	0	0	0	1	14705	1306	46	4		4	SLC4A1	17	42333044	Silent	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08	3240336	42333044	38862166	97	12964											
HOXB8	3218	broad.mit.edu	37	chr17	46692051	46692051	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggagaacagtgagttgaCgaaataagagctcattttat	14	13	10	4	1	1	4	1	2	0	2	1	6	1	4	0	1	2	2	0	1	4	5			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr17:46692051C>T	ENST00000239144.4	-	1	250	c.16G>A	c.(16-18)Gtc>Atc	p.V6I	HOXB8_ENST00000576562.1_Missense_Mutation_p.V6I|HOXB7_ENST00000567101.1_Intron	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN	homeobox B8	6						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(8)|urinary_tract(2)	11						AGTGAGTTGACGAAATAAGAG	0.592													6	22					0	0	1	0	0	T	46692051	C	T	46692051	3	4	246	1	0	0	0	0	1	0	0	0	7348	536	19	1	723	1	HOXB8	17	46692051	Missense_Mutation	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08	4359007	46692051	34503159	98	12965											
COL1A1	1277	broad.mit.edu	37	chr17	48263140	48263140	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggattctgggcactcaccGtgcagccatcgacagtgacg	8	7	14	12	3	2	1	1	1	1	0	3	3	2	2	2	3	2	2	2	3	0	1			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr17:48263140G>A	ENST00000225964.5	-	50	4365	c.4248_splice	c.e50+1	p.T1416_splice		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1416	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	GGCACTCACCGTGCAGCCATC	0.627			T	"PDGFB, USP6"	"dermatofibrosarcoma protuberans, aneurysmal bone cyst "		Osteogenesis imperfecta						11	59					0	0	1	0	0	A	48263140	G	A	48263140	5	1	246	1	0	0	0	0	0	0	1	0	3700	1159	40	1	155	1	COL1A1	17	48263140	Splice_Site	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08	1571089	48263140	32932070	99	12966											
COL1A1	1277	broad.mit.edu	37	chr17	48264042	48264042	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acatcttgaggtcacggcagGtgcgggcggggttcttgcgg	5	9	18	9	4	3	1	1	1	2	0	3	1	3	1	0	7	2	2	0	7	0	3			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr17:48264042G>T	ENST00000225964.5	-	48	3891	c.3773C>A	c.(3772-3774)aCc>aAc	p.T1258N		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1258	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	GTCACGGCAGGTGCGGGCGGG	0.647			T	"PDGFB, USP6"	"dermatofibrosarcoma protuberans, aneurysmal bone cyst "		Osteogenesis imperfecta						16	148					4.7546e-09	5.69767e-09	1	1	0	T	48264042	G	T	48264042	3	4	246	1	0	0	0	0	1	0	0	0	3700	1261	44	4	637	4	COL1A1	17	48264042	Missense_Mutation	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08	902	48264042	32931168	100	12967											
USH1G	124590	broad.mit.edu	37	chr17	72915939	72915939	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catccagacccccatcctcgCggcccagtccgtgcagccca	7	5	8	21	3	0	1	0	0	0	1	4	1	3	1	7	1	2	1	7	1	0	0			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr17:72915939C>T	ENST00000319642.1	-	2	1174	c.992G>A	c.(991-993)cGc>cAc	p.R331H		NM_173477.2	NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	331					equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton			HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					CCCATCCTCGCGGCCCAGTCC	0.677													6	339					0	0	1	0	0	T	72915939	C	T	72915939	3	4	246	1	0	0	0	0	1	0	0	0	17095	768	27	1	401	1	USH1G	17	72915939	Missense_Mutation	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08	24651897	72915939	8279271	101	12968											
CEP76	79959	broad.mit.edu	37	chr18	12673405	12673405	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaagcaaacatgatccaaaCagcacatgcagattcagggt	17	6	8	10	0	1	2	1	1	0	1	2	2	2	2	1	1	5	3	1	1	3	1			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr18:12673405C>A	ENST00000262127.2	-	12	2164	c.1939G>T	c.(1939-1941)Gtt>Ttt	p.V647F	CEP76_ENST00000423709.2_Missense_Mutation_p.V572F|RP11-973H7.2_ENST00000585331.1_RNA	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	647					G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATGATCCAAACAGCACATGCA	0.378													20	95					1.87028e-06	2.13536e-06	1	1	0	A	12673405	C	A	12673405	3	1	246	1	0	0	0	0	1	0	0	0	3283	478	17	4	44	4	CEP76	18	12673405	Missense_Mutation	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08		12673405	65403843	102	12969											
C18orf8	29919	broad.mit.edu	37	chr18	21110078	21110078	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcctgcagtaccacgtcctCagcgactccaaacctttggt	8	11	7	15	2	1	0	1	0	0	0	4	1	4	0	5	1	4	2	5	1	2	3			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr18:21110078C>T	ENST00000269221.3	+	17	1691	c.1581C>T	c.(1579-1581)ctC>ctT	p.L527L	C18orf8_ENST00000591367.1_3'UTR|C18orf8_ENST00000590868.1_Silent_p.L479L	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	527	Mic1.									endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ACCACGTCCTCAGCGACTCCA	0.403													37	242					0	0	1	0	0	T	21110078	C	T	21110078	2	4	246	1	0	0	0	0	0	0	0	1	1919	813	29	2		2	C18orf8	18	21110078	Silent	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08	8436673	21110078	56967170	103	12970											
ALPK2	115701	broad.mit.edu	37	chr18	56202227	56202227	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgctgccaccctggacaaaAttttcttctttactccctca	8	14	5	14	0	3	0	1	0	2	0	4	1	4	1	3	1	3	1	3	1	3	5			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr18:56202227A>T	ENST00000361673.3	-	5	5405	c.5192T>A	c.(5191-5193)aTt>aAt	p.I1731N		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1731							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CCTGGACAAAATTTTCTTCTT	0.488													19	108					0	0	1	0	0	T	56202227	A	T	56202227	3	4	246	1	0	0	0	0	1	0	0	0	541	101	4	5	1356	5	ALPK2	18	56202227	Missense_Mutation	SNP	A	TCGA-KK-A5A1-01A-11D-A29Q-08	35092149	56202227	21875021	104	12971											
CCDC102B	79839	broad.mit.edu	37	chr18	66678240	66678240	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcaaatattgcagaactgActcatgcaaacaaccgagtg	16	7	9	9	1	1	2	1	1	0	1	1	3	1	2	1	1	5	3	1	1	5	2			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr18:66678240A>G	ENST00000360242.5	+	7	1450	c.1333A>G	c.(1333-1335)Act>Gct	p.T445A	CCDC102B_ENST00000319445.6_Missense_Mutation_p.T445A|CCDC102B_ENST00000584156.1_Missense_Mutation_p.T445A	NM_024781.2	NP_079057.2	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	445										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				TGCAGAACTGACTCATGCAAA	0.343													9	42					0	0	1	0	0	G	66678240	A	G	66678240	3	3	246	1	0	0	0	0	1	0	0	0	2755	275	10	3	1355	3	CCDC102B	18	66678240	Missense_Mutation	SNP	A	TCGA-KK-A5A1-01A-11D-A29Q-08	10476013	66678240	11399008	105	12972											
CBLN2	147381	broad.mit.edu	37	chr18	70209171	70209171	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggaggaggtgacggcgccGtccgccgacgggctggagtc	6	4	20	11	6	0	1	0	1	0	0	2	5	1	4	3	6	0	1	3	6	0	0			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr18:70209171G>A	ENST00000269503.4	-	3	998	c.225C>T	c.(223-225)gaC>gaT	p.D75D	CBLN2_ENST00000583651.1_Intron|CBLN2_ENST00000581073.1_Intron|CBLN2_ENST00000584764.1_Intron|CBLN2_ENST00000585159.1_Silent_p.D75D	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	75						integral to membrane				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				TGACGGCGCCGTCCGCCGACG	0.706													14	13					0	0	1	0	0	A	70209171	G	A	70209171	2	1	246	1	0	0	0	0	0	0	0	1	2723	1136	40	1		1	CBLN2	18	70209171	Silent	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08	3530931	70209171	7868077	106	12973											
PTBP1	5725	broad.mit.edu	37	chr19	803627	803627	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttatcatgagcagcaactcgGcttctgcaggtaaggccggg	9	9	13	10	2	2	1	1	1	1	0	3	1	2	1	1	4	4	5	1	4	3	3			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr19:803627G>A	ENST00000356948.6	+	3	529	c.106G>A	c.(106-108)Gct>Act	p.A36T	PTBP1_ENST00000350092.4_Intron|PTBP1_ENST00000349038.4_Missense_Mutation_p.A36T|PTBP1_ENST00000394601.4_Missense_Mutation_p.A36T	NM_002819.4	NP_002810.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	36					negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGCAACTCGGCTTCTGCAGG	0.547													4	125					0	0	1	0	0	A	803627	G	A	803627	3	1	246	1	0	0	0	0	1	0	0	0	12774	1203	42	2	116	2	PTBP1	19	803627	Missense_Mutation	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08		803627	58325356	107	12974											
PTPRS	5802	broad.mit.edu	37	chr19	5214707	5214707	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgttctgacaccggtagccGtccacgtagttggcattgat	7	11	12	11	4	1	2	0	2	1	0	2	2	2	2	3	2	1	5	3	2	2	5	rs144200009	byFrequency	TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr19:5214707G>A	ENST00000372412.4	-	29	4595	c.4362C>T	c.(4360-4362)gaC>gaT	p.D1454D	PTPRS_ENST00000262963.6_Silent_p.D1433D|PTPRS_ENST00000587303.1_Silent_p.D1453D|PTPRS_ENST00000353284.2_Silent_p.D1006D|PTPRS_ENST00000348075.2_Silent_p.D1415D|PTPRS_ENST00000357368.4_Silent_p.D1453D|PTPRS_ENST00000592099.1_Silent_p.D1006D|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Silent_p.D1415D			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1453	Tyrosine-protein phosphatase 1.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		ACCGGTAGCCGTCCACGTAGT	0.612													3	34					0	0	1	0	0	A	5214707	G	A	5214707	2	1	246	1	0	0	0	0	0	0	0	1	12863	1136	40	1		1	PTPRS	19	5214707	Silent	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08	4411080	5214707	53914276	108	12975											
IL27RA	9466	broad.mit.edu	37	chr19	14150414	14150414	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgtctgacaaactccttGtctggggcactaaggcaggc	9	9	11	12	0	2	1	0	1	2	0	3	1	3	1	2	4	1	2	2	4	2	2			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr19:14150414G>C	ENST00000263379.2	+	3	438	c.313G>C	c.(313-315)Gtc>Ctc	p.V105L		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	105					cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						CAAACTCCTTGTCTGGGGCAC	0.607													29	91					0	0	1	0	0	C	14150414	G	C	14150414	3	2	246	1	0	0	0	0	1	0	0	0	7725	1377	48	4	323	4	IL27RA	19	14150414	Missense_Mutation	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08	8935707	14150414	44978569	109	12976											
MAP1S	55201	broad.mit.edu	37	chr19	17835965	17835965	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacagggggcttctcgccTcaccacttcctccaggtcct	6	9	9	17	1	2	1	1	0	1	1	6	1	5	1	5	3	0	1	5	3	0	2			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr19:17835965T>G	ENST00000324096.4	+	4	562	c.411T>G	c.(409-411)ccT>ccG	p.P137P	MAP1S_ENST00000597681.1_Intron|MAP1S_ENST00000544059.2_Silent_p.P111P	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	137	Necessary for the microtubule-organizing center localization.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						GCTTCTCGCCTCACCACTTCC	0.607													5	121					0	0	1	0	0	G	17835965	T	G	17835965	2	3	246	1	0	0	0	0	0	0	0	1	9284	1538	54	5		5	MAP1S	19	17835965	Silent	SNP	T	TCGA-KK-A5A1-01A-11D-A29Q-08	3685551	17835965	41293018	110	12977											
CRLF1	9244	broad.mit.edu	37	chr19	18709695	18709695	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaccagcagctgatgttgacGggtttctctgggggcactgg	6	10	16	9	1	1	2	0	2	1	0	2	3	1	2	1	4	2	5	1	4	0	2			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr19:18709695G>A	ENST00000392386.3	-	3	607	c.414C>T	c.(412-414)ccC>ccT	p.P138P		NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	138	Fibronectin type-III 1.				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						TGATGTTGACGGGTTTCTCTG	0.632													15	78					0	0	1	0	0	A	18709695	G	A	18709695	2	1	246	1	0	0	0	0	0	0	0	1	3909	1103	39	1		1	CRLF1	19	18709695	Silent	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08	873730	18709695	40419288	111	12978											
ZNF781	163115	broad.mit.edu	37	chr19	38160483	38160483	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtatgagttctctggtgttGagtaagtgttgagcaattat	10	16	12	3	0	1	3	0	3	1	0	2	3	1	3	0	1	1	6	0	1	4	6			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr19:38160483G>A	ENST00000358582.4	-	4	1315	c.567C>T	c.(565-567)ctC>ctT	p.L189L	ZNF781_ENST00000590008.1_Silent_p.L189L|ZFP30_ENST00000586732.1_Intron	NM_152605.3	NP_689818.2	Q8N8C0	ZN781_HUMAN	zinc finger protein 781	189					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						CTCTGGTGTTGAGTAAGTGTT	0.368													12	68					0	0	1	0	0	A	38160483	G	A	38160483	2	1	246	1	0	0	0	0	0	0	0	1	18203	1277	45	2		2	ZNF781	19	38160483	Silent	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08	19450788	38160483	20968500	112	12979											
ZNF225	7768	broad.mit.edu	37	chr19	44636284	44636284	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatacccatcgtagagtccAcagtggagaaaaaccattca	15	9	7	10	1	1	2	1	0	0	2	3	3	2	2	3	1	2	1	3	1	5	4			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr19:44636284A>G	ENST00000262894.6	+	5	1797	c.1517A>G	c.(1516-1518)cAc>cGc	p.H506R	ZNF225_ENST00000590612.1_Missense_Mutation_p.H506R|ZNF225_ENST00000592780.1_3'UTR	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	506					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				CGTAGAGTCCACAGTGGAGAA	0.378													13	98					0	0	1	0	0	G	44636284	A	G	44636284	3	3	246	1	0	0	0	0	1	0	0	0	17837	159	6	3	1531	3	ZNF225	19	44636284	Missense_Mutation	SNP	A	TCGA-KK-A5A1-01A-11D-A29Q-08	6475801	44636284	14492699	113	12980											
CACNG7	59284	broad.mit.edu	37	chr19	54417821	54417821	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagatcaatttggtgacggaAaacacggagaatattctgag	15	9	12	5	2	2	4	1	2	1	2	2	7	2	5	0	3	1	0	0	3	5	3			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr19:54417821A>C	ENST00000391767.1	+	3	476	c.264A>C	c.(262-264)gaA>gaC	p.E88D	CACNG7_ENST00000468076.1_Intron|CACNG7_ENST00000222212.2_Missense_Mutation_p.E88D|CACNG7_ENST00000391766.1_Missense_Mutation_p.E88D			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	88					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		TGGTGACGGAAAACACGGAGA	0.547													9	59					0	0	1	0	0	C	54417821	A	C	54417821	3	2	246	1	0	0	0	0	1	0	0	0	2580	11	1	5	270	5	CACNG7	19	54417821	Missense_Mutation	SNP	A	TCGA-KK-A5A1-01A-11D-A29Q-08	9781537	54417821	4711162	114	12981											
ZNF587	84914	broad.mit.edu	37	chr19	58370783	58370783	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgtgggaaatcttttggtCaaaagggtaacctcattcaa	14	12	9	6	0	4	0	3	0	1	0	4	1	4	1	1	3	1	1	1	3	6	4			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr19:58370783C>T	ENST00000339656.5	+	3	1185	c.1003C>T	c.(1003-1005)Caa>Taa	p.Q335*	ZNF814_ENST00000595295.1_Intron|ZNF587_ENST00000423137.1_Nonsense_Mutation_p.Q334*|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF587_ENST00000419854.1_Nonsense_Mutation_p.Q292*	NM_001204817.1|NM_032828.3	NP_001191746.1|NP_116217.1	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	335					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)		ATCTTTTGGTCAAAAGGGTAA	0.443													32	75					0	0	1	0	0	T	58370783	C	T	58370783	4	4	246	1	0	0	0	0	0	1	0	0	18077	827	29	2	1013	2	ZNF587	19	58370783	Nonsense_Mutation	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08	3952962	58370783	758200	115	12982											
CPXM1	56265	broad.mit.edu	37	chr20	2775056	2775056	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcccctggggtcagcagaCgccaataatccccgccccac	9	5	9	18	2	1	1	1	0	0	1	3	1	3	1	7	2	1	1	7	2	2	1			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr20:2775056C>T	ENST00000380605.2	-	14	2049	c.1985G>A	c.(1984-1986)cGt>cAt	p.R662H		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	662					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GGTCAGCAGACGCCAATAATC	0.602													9	43					0	0	1	0	0	T	2775056	C	T	2775056	3	4	246	1	0	0	0	0	1	0	0	0	3860	536	19	1	223	1	CPXM1	20	2775056	Missense_Mutation	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08		2775056	60250464	116	12983											
NINL	22981	broad.mit.edu	37	chr20	25481559	25481559	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaaagcgaagccagaaccatCgtcaatgctggagaagaggc	16	4	12	9	2	1	3	1	0	0	3	2	5	1	3	2	2	4	1	2	2	6	0	rs140736402	by1000genomes	TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr20:25481559C>T	ENST00000278886.6	-	8	1022	c.949G>A	c.(949-951)Gat>Aat	p.D317N	NINL_ENST00000422516.1_Missense_Mutation_p.D317N	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	317					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CCAGAACCATCGTCAATGCTG	0.582													5	64					0	0	1	0	0	T	25481559	C	T	25481559	3	4	246	1	0	0	0	0	1	0	0	0	10467	884	31	1	3267	1	NINL	20	25481559	Missense_Mutation	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08	22706503	25481559	37543961	117	12984											
NCOA6	23054	broad.mit.edu	37	chr20	33337674	33337674	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccataacctgagatggactgTtgttcacaggcccttgctgg	8	11	11	11	0	1	1	1	1	0	1	1	3	1	2	3	3	2	3	3	3	1	4			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr20:33337674T>C	ENST00000374796.2	-	10	4894	c.2324A>G	c.(2323-2325)aAc>aGc	p.N775S	NCOA6_ENST00000359003.2_Missense_Mutation_p.N775S			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	775	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|NCOA6IP-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						AGATGGACTGTTGTTCACAGG	0.557													10	57					0	0	1	0	0	C	33337674	T	C	33337674	3	2	246	1	0	0	0	0	1	0	0	0	10280	1725	60	3	3895	3	NCOA6	20	33337674	Missense_Mutation	SNP	T	TCGA-KK-A5A1-01A-11D-A29Q-08	7856115	33337674	29687846	118	12985											
FAM83C	128876	broad.mit.edu	37	chr20	33875239	33875239	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actggaggaggggccgggagCgaggaagcagaggtgacccc	10	2	20	9	2	0	2	0	1	0	1	0	7	0	6	3	7	2	1	3	7	1	0			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr20:33875239C>T	ENST00000374408.3	-	4	1439	c.1343G>A	c.(1342-1344)cGc>cAc	p.R448H		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	448										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GGGCCGGGAGCGAGGAAGCAG	0.647													14	44					0	0	1	0	0	T	33875239	C	T	33875239	3	4	246	1	0	0	0	0	1	0	0	0	5667	768	27	1	904	1	FAM83C	20	33875239	Missense_Mutation	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08	537565	33875239	29150281	119	12986											
SYNJ1	8867	broad.mit.edu	37	chr21	34038327	34038327	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacttgtgactgccctgcagCaaagtggctacagacgaagc	11	7	12	11	1	0	2	0	1	0	1	0	4	0	2	1	1	5	3	1	1	3	2			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr21:34038327C>A	ENST00000382499.2	-	17	2187	c.2188G>T	c.(2188-2190)Gct>Tct	p.A730S	SYNJ1_ENST00000357345.3_Missense_Mutation_p.A691S|SYNJ1_ENST00000382491.3_Missense_Mutation_p.A686S|SYNJ1_ENST00000322229.7_Missense_Mutation_p.A691S|SYNJ1_ENST00000433931.2_Missense_Mutation_p.A730S	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	691	Catalytic (Potential).						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						TGCCCTGCAGCAAAGTGGCTA	0.428													6	36					3.59834e-05	4.01353e-05	1	1	0	A	34038327	C	A	34038327	3	1	246	1	0	0	0	0	1	0	0	0	15509	710	25	4	2739	4	SYNJ1	21	34038327	Missense_Mutation	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08		34038327	14091568	120	12987											
SON	6651	broad.mit.edu	37	chr21	34922689	34922689	+	Frame_Shift_Del	DEL	G	G	-																															gcctcagcgatggagttgccGgggccacctgcgacctccat																								rs140536115		TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr21:34922689delG	ENST00000356577.4	+	3	1627	c.1152delG	c.(1150-1152)ccfs	p.P384fs	SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Frame_Shift_Del_p.P384fs|SON_ENST00000300278.4_Frame_Shift_Del_p.P384fs|SON_ENST00000290239.6_Frame_Shift_Del_p.P384fs	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	384					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TGGAGTTGCCGGGGCCACCTG	0.642													24	103	---	---	---	---						-	34922689	G	-	34922689	7	5	246	1	0	1	0	1	0	0	0	0	14980	1103	39	0	1162	0	SON	21	34922689	Frame_Shift_Del	DEL	G	TCGA-KK-A5A1-01A-11D-A29Q-08	884362	34922689	13207206	121	12988											
TMPRSS6	164656	broad.mit.edu	37	chr22	37480809	37480809	+	Frame_Shift_Del	DEL	G	G	-																															gtttggggcgagtagtagctGgggaagtacggggtgctgag																										TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr22:37480809delG	ENST00000381792.2	-	9	1184	c.1044delC	c.(1042-1044)ccfs	p.P348fs	TMPRSS6_ENST00000442782.2_Frame_Shift_Del_p.P357fs|TMPRSS6_ENST00000406725.1_Frame_Shift_Del_p.P348fs|TMPRSS6_ENST00000406856.1_Frame_Shift_Del_p.P348fs|TMPRSS6_ENST00000346753.3_Frame_Shift_Del_p.P357fs			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	357	CUB 2.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						AGTAGTAGCTGGGGAAGTACG	0.637													2	4	---	---	---	---						-	37480809	G	-	37480809	7	5	246	1	0	1	0	1	0	0	0	0	16311	1335	47	0	1404	0	TMPRSS6	22	37480809	Frame_Shift_Del	DEL	G	TCGA-KK-A5A1-01A-11D-A29Q-08		37480809	13823757	122	12989											
XPNPEP3	63929	broad.mit.edu	37	chr22	41282353	41282353	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttggtatgactggatgaggcCctcacatgcacagcttcact	9	11	10	11	0	2	2	2	2	0	0	2	3	2	3	1	3	2	3	1	3	1	3			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr22:41282353C>T	ENST00000357137.4	+	4	710	c.626C>T	c.(625-627)cCc>cTc	p.P209L	XPNPEP3_ENST00000414396.1_Missense_Mutation_p.P209L|XPNPEP3_ENST00000544094.1_Missense_Mutation_p.P186L|XPNPEP3_ENST00000541156.1_Missense_Mutation_p.P209L	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	209					cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						TGGATGAGGCCCTCACATGCA	0.458													37	56					0	0	1	0	0	T	41282353	C	T	41282353	3	4	246	1	0	0	0	0	1	0	0	0	17504	623	22	2	640	2	XPNPEP3	22	41282353	Missense_Mutation	SNP	C	TCGA-KK-A5A1-01A-11D-A29Q-08	3801544	41282353	10022213	123	12990											
KIAA1644	85352	broad.mit.edu	37	chr22	44681558	44681558	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cattgccgagtaatacaaaaGgtccagaaccagcagcatca	16	6	8	11	1	1	1	1	0	0	1	2	2	2	1	3	1	5	3	3	1	5	3			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chr22:44681558G>C	ENST00000381176.4	-	4	481	c.349C>G	c.(349-351)Ctt>Gtt	p.L117V		NM_001099294.1	NP_001092764.1	Q3SXP7	K1644_HUMAN	KIAA1644	117						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				TAATACAAAAGGTCCAGAACC	0.532													53	268					0	0	1	0	0	C	44681558	G	C	44681558	3	2	246	1	0	0	0	0	1	0	0	0	8292	1000	35	4	258	4	KIAA1644	22	44681558	Missense_Mutation	SNP	G	TCGA-KK-A5A1-01A-11D-A29Q-08	3399205	44681558	6623008	124	12991											
VAMP7	6845	broad.mit.edu	37	chrX	155119202	155119202	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgcttggtgtggaggaaacTtcctggaggtgacagagcag	10	9	16	6	0	0	2	0	1	0	1	1	5	1	5	1	5	3	2	1	5	1	2			TCGA-KK-A5A1-01A-11D-A29Q-08	TCGA-KK-A5A1-11A-12D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1ed8374-a8ff-4d14-a886-ee50f37c0ac5	e1e7d94f-1962-4438-b722-3d6d003eb6ea	g.chrX:155119202T>C	ENST00000286448.6	+	2	238	c.73T>C	c.(73-75)Ttc>Ctc	p.F25L	VAMP7_ENST00000460621.1_Missense_Mutation_p.F25L|VAMP7_ENST00000262640.6_Missense_Mutation_p.F25L|VAMP7_ENST00000479687.1_3'UTR	NM_001145149.2|NM_005638.5	NP_001138621.1|NP_005629.1	P51809	VAMP7_HUMAN	vesicle-associated membrane protein 7	25	Longin.				calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane	protein binding			large_intestine(1)|lung(8)	9	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGGAGGAAACTTCCTGGAGGT	0.453													15	69					0	0	1	0	0	C	155119202	T	C	155119202	3	2	246	1	0	0	0	0	1	0	0	0	17177	1609	56	3	75	3	VAMP7	23	155119202	Missense_Mutation	SNP	T	TCGA-KK-A5A1-01A-11D-A29Q-08		155119202	151358	125	12992											
CSMD2	114784	broad.mit.edu	37	chr1	34003036	34003036	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctccagatgacctctcacCtatgcagctgggctgggtgc	6	10	12	13	0	1	2	1	1	1	1	3	2	2	2	3	2	4	4	3	2	1	1			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr1:34003036C>T	ENST00000373381.4	-	61	9981	c.9805_splice	c.e61+1	p.D3269_splice		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3247						integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GACCTCTCACCTATGCAGCTG	0.582													5	152					0	0	1	0	0	T	34003036	C	T	34003036	5	4	247	1	0	0	0	0	0	0	1	0	3970	695	24	2	1130	2	CSMD2	1	34003036	Splice_Site	SNP	C	TCGA-KK-A6DY-01A-12D-A30X-08		34003036	215247585	1	12993											
COL9A2	1298	broad.mit.edu	37	chr1	40776809	40776809	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acccagaatcccgcgtttgcCcgcatgcccctgaagggaag	9	6	11	15	3	0	2	0	1	0	1	1	3	1	3	5	1	2	2	5	1	3	1			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr1:40776809C>A	ENST00000372748.3	-	12	682	c.586G>T	c.(586-588)Ggc>Tgc	p.G196C		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	196	Triple-helical region 3 (COL3).				axon guidance|skeletal system development	collagen type IX				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			CCGCGTTTGCCCGCATGCCCC	0.617													14	58					0.00244969	0.00261578	1	1	0	A	40776809	C	A	40776809	3	1	247	1	0	0	0	0	1	0	0	0	3731	623	22	4	1567	4	COL9A2	1	40776809	Missense_Mutation	SNP	C	TCGA-KK-A6DY-01A-12D-A30X-08	6773773	40776809	208473812	2	12994											
PIK3R3	8503	broad.mit.edu	37	chr1	46527681	46527681	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgttcttgtgtgtgacactgCtcttcaaatattttaattgt	8	20	7	6	0	3	1	1	1	2	0	3	1	3	1	0	0	1	2	0	0	3	7			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr1:46527681C>T	ENST00000262741.5	-	6	1373	c.684G>A	c.(682-684)gaG>gaA	p.E228E	PIK3R3_ENST00000354242.4_Silent_p.E228E|PIK3R3_ENST00000540385.1_Silent_p.E274E|PIK3R3_ENST00000372006.1_Silent_p.E228E|PIK3R3_ENST00000340332.6_Silent_p.E192E|PIK3R3_ENST00000420542.1_Silent_p.E228E|PIK3R3_ENST00000423209.1_Silent_p.E228E	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	228					insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)					TGTGACACTGCTCTTCAAATA	0.358													17	123					0	0	1	0	0	T	46527681	C	T	46527681	2	4	247	1	0	0	0	0	0	0	0	1	11968	796	28	2		2	PIK3R3	1	46527681	Silent	SNP	C	TCGA-KK-A6DY-01A-12D-A30X-08	5750872	46527681	202722940	3	12995											
STIL	6491	broad.mit.edu	37	chr1	47755173	47755173	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtcaggtatcttgccatcAcaagggaagcattcataaaa	16	9	8	8	0	4	0	3	0	1	0	4	1	4	1	1	2	2	2	1	2	6	4			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr1:47755173A>T	ENST00000360380.3	-	10	1320	c.957T>A	c.(955-957)tgT>tgA	p.C319*	STIL_ENST00000371877.3_Nonsense_Mutation_p.C319*|STIL_ENST00000243182.6_Nonsense_Mutation_p.C319*|STIL_ENST00000396221.2_Nonsense_Mutation_p.C319*|STIL_ENST00000337817.5_Nonsense_Mutation_p.C319*			Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	319					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TCTTGCCATCACAAGGGAAGC	0.353													9	32					0	0	1	0	0	T	47755173	A	T	47755173	4	4	247	1	0	0	0	0	0	1	0	0	15338	157	6	5	2945	5	STIL	1	47755173	Nonsense_Mutation	SNP	A	TCGA-KK-A6DY-01A-12D-A30X-08	1227492	47755173	201495448	4	12996											
CHD1L	9557	broad.mit.edu	37	chr1	146714381	146714381	+	Frame_Shift_Del	DEL	G	G	-																															gcgcgggcgctactagccgcGggggccaagcgcctggcttc																										TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr1:146714381delG	ENST00000369258.4	+	1	48	c.28delG	c.(28-30)ggfs	p.G11fs	CHD1L_ENST00000431239.1_Frame_Shift_Del_p.G11fs|CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000369259.3_Frame_Shift_Del_p.G11fs|CHD1L_ENST00000361293.5_5'UTR	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	11					chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					TACTAGCCGCGGGGGCCAAGC	0.741													6	11	---	---	---	---						-	146714381	G	-	146714381	7	5	247	1	0	1	0	1	0	0	0	0	3346	1116	39	0	30	0	CHD1L	1	146714381	Frame_Shift_Del	DEL	G	TCGA-KK-A6DY-01A-12D-A30X-08	98959208	146714381	102536240	5	12997											
ADAR	103	broad.mit.edu	37	chr1	154600401	154600401	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggccgcgaccctccccccAccctcccccaccacgtagcc	5	3	7	26	4	0	0	0	0	0	0	2	1	2	0	10	1	1	1	10	1	1	1			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr1:154600401A>C	ENST00000292205.5	-	1	73	c.74T>G	c.(73-75)gTg>gGg	p.V25G	ADAR_ENST00000368471.3_5'UTR|ADAR_ENST00000471068.1_Intron	NM_001025107.2|NM_001193495.1	NP_001020278.1|NP_001180424.1	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	0					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		CCCTCCCCCCACCCTCCCCCA	0.642													7	31					0	0	1	0	0	C	154600401	A	C	154600401	3	2	247	1	0	0	0	0	1	0	0	0	280	174	6	5		5	ADAR	1	154600401	Missense_Mutation	SNP	A	TCGA-KK-A6DY-01A-12D-A30X-08	7886020	154600401	94650220	6	12998											
FCRL4	83417	broad.mit.edu	37	chr1	157559034	157559034	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagggttacttcgtggggaGccccgggcctggcatctgta	6	9	15	11	2	1	0	0	0	1	0	2	1	1	1	3	5	2	3	3	5	2	3			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr1:157559034G>A	ENST00000271532.1	-	3	402	c.267C>T	c.(265-267)ggC>ggT	p.G89G	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	89	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity	p.G89G(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				TTCGTGGGGAGCCCCGGGCCT	0.498													5	81					0	0	1	0	0	A	157559034	G	A	157559034	2	1	247	1	0	0	0	0	0	0	0	1	5830	958	34	2		2	FCRL4	1	157559034	Silent	SNP	G	TCGA-KK-A6DY-01A-12D-A30X-08	2958633	157559034	91691587	7	12999											
BPNT1	10380	broad.mit.edu	37	chr1	220253161	220253161	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atatgcggaggctaccaaccGcatcaacacagtgttactgg	12	8	10	11	2	1	0	1	0	0	0	1	1	1	1	2	3	5	3	2	3	5	3			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr1:220253161G>A	ENST00000469520.2	-	3	477	c.28C>T	c.(28-30)Cgg>Tgg	p.R10W	BPNT1_ENST00000482136.1_Intron|BPNT1_ENST00000354807.3_Missense_Mutation_p.R10W|BPNT1_ENST00000414869.2_Missense_Mutation_p.R10W|BPNT1_ENST00000544404.1_Intron|BPNT1_ENST00000322067.7_Missense_Mutation_p.R10W			O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	10					3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process	cytosol	3'(2'),5'-bisphosphate nucleotidase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14				GBM - Glioblastoma multiforme(131;0.0558)		GCTACCAACCGCATCAACACA	0.398													6	59					0	0	1	0	0	A	220253161	G	A	220253161	3	1	247	1	0	0	0	0	1	0	0	0	1496	1086	38	1	930	1	BPNT1	1	220253161	Missense_Mutation	SNP	G	TCGA-KK-A6DY-01A-12D-A30X-08	62694127	220253161	28997460	8	13000											
ITSN2	50618	broad.mit.edu	37	chr2	24432816	24432816	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaggaatccgtgcagttcCttgttgctcttggtcttgta	7	15	11	8	1	2	1	0	0	2	1	4	2	4	2	2	2	2	5	2	2	3	6			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr2:24432816C>A	ENST00000355123.4	-	35	4787	c.4344G>T	c.(4342-4344)aaG>aaT	p.K1448N	ITSN2_ENST00000361999.3_Missense_Mutation_p.K1421N	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1448	PH.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGTGCAGTTCCTTGTTGCTCT	0.453													4	192					0.00909568	0.0093939	1	1	0	A	24432816	C	A	24432816	3	1	247	1	0	0	0	0	1	0	0	0	7971	680	24	4	773	4	ITSN2	2	24432816	Missense_Mutation	SNP	C	TCGA-KK-A6DY-01A-12D-A30X-08		24432816	218766557	9	13001											
NRXN1	9378	broad.mit.edu	37	chr2	50765580	50765580	+	Frame_Shift_Del	DEL	G	G	-																															ttgccggatatctttgctttGgccatcgatgaacaaatccc																										TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr2:50765580delG	ENST00000404971.1	-	11	3413	c.2074delC	c.(2074-2076)aafs	p.Q692fs	NRXN1_ENST00000406859.3_Frame_Shift_Del_p.Q652fs|NRXN1_ENST00000402717.3_Frame_Shift_Del_p.Q644fs|NRXN1_ENST00000406316.2_Frame_Shift_Del_p.Q652fs|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000405472.3_Frame_Shift_Del_p.Q644fs|NRXN1_ENST00000401669.2_Frame_Shift_Del_p.Q652fs	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	652	EGF-like 2.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.Q693K(2)|p.Q652K(2)|p.Q692K(2)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TCTTTGCTTTGGCCATCGATG	0.507													32	338	---	---	---	---						-	50765580	G	-	50765580	7	5	247	1	0	1	0	1	0	0	0	0	10713	1357	47	0	2888	0	NRXN1	2	50765580	Frame_Shift_Del	DEL	G	TCGA-KK-A6DY-01A-12D-A30X-08	26332764	50765580	192433793	10	13002											
CTNNB1	1499	broad.mit.edu	37	chr3	41268787	41268787	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actactgtggaccacaagcaGagtgctgaaggtgctatctg	11	9	12	9	0	1	2	0	1	1	1	1	3	1	3	1	2	4	3	1	2	4	2			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr3:41268787G>A	ENST00000349496.5	+	7	1305	c.1025G>A	c.(1024-1026)aGa>aAa	p.R342K	CTNNB1_ENST00000396185.3_Missense_Mutation_p.R342K|CTNNB1_ENST00000453024.1_Missense_Mutation_p.R335K|CTNNB1_ENST00000396183.3_Missense_Mutation_p.R342K|CTNNB1_ENST00000405570.1_Missense_Mutation_p.R342K	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	342					adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	ACCACAAGCAGAGTGCTGAAG	0.408		15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of				9	70					0	0	1	0	0	A	41268787	G	A	41268787	3	1	247	1	0	0	0	0	1	0	0	0	4040	942	33	2	1047	2	CTNNB1	3	41268787	Missense_Mutation	SNP	G	TCGA-KK-A6DY-01A-12D-A30X-08		41268787	156753643	11	13003											
SFMBT1	51460	broad.mit.edu	37	chr3	52939178	52939178	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcaaactgctcataaaaagCaaacttgatcctctctatgt	14	11	6	10	0	2	1	1	1	1	0	4	1	3	1	1	1	4	3	1	1	6	3			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr3:52939178C>T	ENST00000394752.3	-	21	2957	c.2575G>A	c.(2575-2577)Gct>Act	p.A859T	SFMBT1_ENST00000296295.6_Missense_Mutation_p.A816T|SFMBT1_ENST00000358080.2_Missense_Mutation_p.A859T|SFMBT1_ENST00000394750.1_Missense_Mutation_p.A859T	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	859	SAM.				regulation of transcription, DNA-dependent	nucleus				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		TCATAAAAAGCAAACTTGATC	0.453													11	52					0	0	1	0	0	T	52939178	C	T	52939178	3	4	247	1	0	0	0	0	1	0	0	0	14211	710	25	2	29	2	SFMBT1	3	52939178	Missense_Mutation	SNP	C	TCGA-KK-A6DY-01A-12D-A30X-08	11670391	52939178	145083252	12	13004											
GPR87	0	broad.mit.edu	37	chr3	151012973	151012973	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcctgttgcctgaattgtGactctcttggccgtgcagct	4	14	11	12	1	1	2	0	2	1	0	3	2	2	2	3	1	3	4	3	1	1	3			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr3:151012973G>T	ENST00000260843.4	-	3	525	c.61C>A	c.(61-63)Cac>Aac	p.H21N	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	21						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCTGAATTGTGACTCTCTTGG	0.488													15	64					0.00316338	0.00332155	1	1	0	T	151012973	G	T	151012973	3	4	247	1	0	0	0	0	1	0	0	0	6756	1290	45	4	1019	4	GPR87	3	151012973	Missense_Mutation	SNP	G	TCGA-KK-A6DY-01A-12D-A30X-08	98073795	151012973	47009457	13	13005											
FGFRL1	53834	broad.mit.edu	37	chr4	1016153	1016153	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccgcttccgcgtgctgcCgcaggggctgaaggtgaagc	6	6	17	12	4	0	2	0	2	0	0	1	3	1	2	3	3	4	4	3	3	2	1			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr4:1016153C>T	ENST00000398484.2	+	4	822	c.242C>T	c.(241-243)cCg>cTg	p.P81L	FGFRL1_ENST00000504138.1_Missense_Mutation_p.P81L|FGFRL1_ENST00000510644.1_Missense_Mutation_p.P81L|FGFRL1_ENST00000264748.6_Missense_Mutation_p.P81L			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	81	Ig-like C2-type 1.				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CGCGTGCTGCCGCAGGGGCTG	0.687													7	22					0	0	1	0	0	T	1016153	C	T	1016153	3	4	247	1	0	0	0	0	1	0	0	0	5902	652	23	1	248	1	FGFRL1	4	1016153	Missense_Mutation	SNP	C	TCGA-KK-A6DY-01A-12D-A30X-08		1016153	190138123	14	13006											
SH3D19	152503	broad.mit.edu	37	chr4	152048836	152048836	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctttggccttcctccccttCggtactatggccaacatact	6	13	7	15	1	0	0	0	0	0	0	3	0	2	0	5	3	3	2	5	3	4	6			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr4:152048836C>T	ENST00000409598.4	-	19	3288	c.2121G>A	c.(2119-2121)ccG>ccA	p.P707P	SH3D19_ENST00000424281.1_Silent_p.P671P|SH3D19_ENST00000304527.4_Silent_p.P730P|SH3D19_ENST00000455740.1_Silent_p.P707P|SH3D19_ENST00000409252.2_Silent_p.P730P|SH3D19_ENST00000427414.2_Silent_p.P671P|SH3D19_ENST00000514152.1_Silent_p.P707P			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	730	SH3 4.				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				TCCTCCCCTTCGGTACTATGG	0.363													5	33					0	0	1	0	0	T	152048836	C	T	152048836	2	4	247	1	0	0	0	0	0	0	0	1	14303	871	31	1		1	SH3D19	4	152048836	Silent	SNP	C	TCGA-KK-A6DY-01A-12D-A30X-08	151032683	152048836	39105440	15	13007											
PCDHB12	0	broad.mit.edu	37	chr5	140589806	140589806	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acataaccgtgctggtctccGacgtcaatgacaacgccccc	10	7	8	16	4	2	1	1	1	1	0	3	2	2	1	4	1	3	1	4	1	3	1			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr5:140589806G>A	ENST00000239450.2	+	1	1516	c.1327G>A	c.(1327-1329)Gac>Aac	p.D443N	PCDHB12_ENST00000541609.1_Missense_Mutation_p.D106N	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		443	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGGTCTCCGACGTCAATGA	0.602													15	123					0	0	1	0	0	A	140589806	G	A	140589806	3	1	247	1	0	0	0	0	1	0	0	0	11584	1058	37	1	1329	1	PCDHB12	5	140589806	Missense_Mutation	SNP	G	TCGA-KK-A6DY-01A-12D-A30X-08		140589806	40325454	16	13008											
LHFPL5	222662	broad.mit.edu	37	chr6	35773472	35773472	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgaaattgctgccggcccagGaggcagccaagatctaccat	11	7	11	12	1	1	2	0	1	1	1	1	3	1	3	4	3	4	2	4	3	3	2			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr6:35773472G>A	ENST00000360215.1	+	1	402	c.25G>A	c.(25-27)Gag>Aag	p.E9K	LHFPL5_ENST00000373853.1_Missense_Mutation_p.E9K	NM_182548.3	NP_872354.1	Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	9						integral to membrane				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						GCCGGCCCAGGAGGCAGCCAA	0.612													13	75					0	0	1	0	0	A	35773472	G	A	35773472	3	1	247	1	0	0	0	0	1	0	0	0	8808	1175	41	2	27	2	LHFPL5	6	35773472	Missense_Mutation	SNP	G	TCGA-KK-A6DY-01A-12D-A30X-08		35773472	135341595	17	13009											
MOCS1	4337	broad.mit.edu	37	chr6	39877613	39877613	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcttcctgcccacagcagcCccaatgattctcagcagctc	8	10	6	17	0	2	1	1	1	2	0	5	1	3	1	4	0	5	3	4	0	1	3			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr6:39877613C>A	ENST00000373186.4	-	8	1205	c.1068G>T	c.(1066-1068)ggG>ggT	p.G356G	MOCS1_ENST00000308559.7_Silent_p.G356G|MOCS1_ENST00000373175.4_Silent_p.G327G|MOCS1_ENST00000340692.5_Silent_p.G356G|MOCS1_ENST00000373195.3_Silent_p.G269G|MOCS1_ENST00000373188.2_Silent_p.G356G|MOCS1_ENST00000425303.2_Silent_p.G356G|MOCS1_ENST00000432280.2_Silent_p.G327G	NM_005943.5	NP_005934.2	Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	356	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					CCACAGCAGCCCCAATGATTC	0.617													30	108					8.4185e-14	9.14424e-14	1	1	0	A	39877613	C	A	39877613	2	1	247	1	0	0	0	0	0	0	0	1	9739	610	22	4		4	MOCS1	6	39877613	Silent	SNP	C	TCGA-KK-A6DY-01A-12D-A30X-08	4104141	39877613	131237454	18	13010											
RUNX2	860	broad.mit.edu	37	chr6	45390466	45390466	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcagcagcagcagcagcaAcagcagcagcagcagcagga	15	0	13	13	0	0	0	0	0	0	0	0	1	0	1	0	1	12	11	0	1	1	0			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr6:45390466A>G	ENST00000371438.1	+	2	553	c.195A>G	c.(193-195)caA>caG	p.Q65Q	RUNX2_ENST00000371436.6_Silent_p.Q65Q|RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	65	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcaacagcagcagc	0.731													5	53					0	0	1	0	0	G	45390466	A	G	45390466	2	3	247	1	0	0	0	0	0	0	0	1	13800	40	2	3		3	RUNX2	6	45390466	Silent	SNP	A	TCGA-KK-A6DY-01A-12D-A30X-08	5512853	45390466	125724601	19	13011											
CSMD1	64478	broad.mit.edu	37	chr8	2832109	2832109	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacagctctccagtgaggacGgcgttggcagggacccctgg	8	6	15	12	2	1	1	0	1	1	0	2	3	1	3	3	5	2	3	3	5	1	1			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr8:2832109G>A	ENST00000602557.1	-	57	9162	c.8607C>T	c.(8605-8607)gcC>gcT	p.A2869A	CSMD1_ENST00000400186.3_Silent_p.A2811A|CSMD1_ENST00000542608.1_Silent_p.A2810A|CSMD1_ENST00000537824.1_Silent_p.A2868A|CSMD1_ENST00000602723.1_Silent_p.A2811A|CSMD1_ENST00000520002.1_Silent_p.A2869A			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2869	Sushi 21.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CAGTGAGGACGGCGTTGGCAG	0.507													3	15					0	0	1	0	0	A	2832109	G	A	2832109	2	1	247	1	0	0	0	0	0	0	0	1	3969	1103	39	1		1	CSMD1	8	2832109	Silent	SNP	G	TCGA-KK-A6DY-01A-12D-A30X-08		2832109	143531913	20	13012											
ADCY8	114	broad.mit.edu	37	chr8	131861901	131861901	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggatgcaaagatgatgaCgttccgggccaaataggtct	13	9	12	7	2	1	3	0	2	1	1	2	4	2	4	2	3	1	2	2	3	4	2			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr8:131861901C>T	ENST00000286355.5	-	10	4451	c.2359G>A	c.(2359-2361)Gtc>Atc	p.V787I	ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	787					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AAGATGATGACGTTCCGGGCC	0.463										HNSCC(32;0.087)			13	85					0	0	1	0	0	T	131861901	C	T	131861901	3	4	247	1	0	0	0	0	1	0	0	0	299	536	19	1	1432	1	ADCY8	8	131861901	Missense_Mutation	SNP	C	TCGA-KK-A6DY-01A-12D-A30X-08	129029792	131861901	14502121	21	13013											
ZNF623	9831	broad.mit.edu	37	chr8	144732272	144732272	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttccccctctcaggacagggGctgcaagcaggtgacagtga	9	7	13	12	0	1	2	1	2	1	0	3	3	2	3	2	4	2	3	2	4	1	1			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr8:144732272G>T	ENST00000501748.2	+	1	319	c.230G>T	c.(229-231)gGc>gTc	p.G77V	ZNF623_ENST00000526926.1_Missense_Mutation_p.G37V|ZNF623_ENST00000458270.2_Missense_Mutation_p.G37V	NM_014789.3	NP_055604.3	O75123	ZN623_HUMAN	zinc finger protein 623	77					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CAGGACAGGGGCTGCAAGCAG	0.547													33	73					3.62531e-18	4.00692e-18	1	1	0	T	144732272	G	T	144732272	3	4	247	1	0	0	0	0	1	0	0	0	18104	1203	42	4	232	4	ZNF623	8	144732272	Missense_Mutation	SNP	G	TCGA-KK-A6DY-01A-12D-A30X-08	12870371	144732272	1631750	22	13014											
TRPM6	140803	broad.mit.edu	37	chr9	77415276	77415276	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtcgtaatcctcccgacacgGccagtttaaggcaggtcgaa	10	8	11	12	4	0	0	0	0	0	0	4	2	2	0	3	3	0	3	3	3	3	3			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr9:77415276G>A	ENST00000451710.3	-	17	2369	c.2132C>T	c.(2131-2133)gCc>gTc	p.A711V	TRPM6_ENST00000449912.2_Missense_Mutation_p.A706V|TRPM6_ENST00000376864.4_Missense_Mutation_p.A711V|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.A706V|TRPM6_ENST00000360774.1_Missense_Mutation_p.A711V			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	711					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TCCCGACACGGCCAGTTTAAG	0.493													4	88					0	0	1	0	0	A	77415276	G	A	77415276	3	1	247	1	0	0	0	0	1	0	0	0	16651	1203	42	2	4028	2	TRPM6	9	77415276	Missense_Mutation	SNP	G	TCGA-KK-A6DY-01A-12D-A30X-08		77415276	63798155	23	13015											
COL5A1	1289	broad.mit.edu	37	chr9	137642640	137642640	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtcttacacttgcagttccGgtttggaggtggcggcgatg	5	13	15	8	3	1	0	0	0	1	0	2	2	2	1	1	5	2	3	1	5	1	4			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr9:137642640G>A	ENST00000371817.3	+	13	1988	c.1574G>A	c.(1573-1575)cGg>cAg	p.R525Q		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	525	Interrupted collagenous region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TTGCAGTTCCGGTTTGGAGGT	0.627													7	38					0	0	1	0	0	A	137642640	G	A	137642640	3	1	247	1	0	0	0	0	1	0	0	0	3719	1116	39	1	1624	1	COL5A1	9	137642640	Missense_Mutation	SNP	G	TCGA-KK-A6DY-01A-12D-A30X-08	60227364	137642640	3570791	24	13016											
ST5	6764	broad.mit.edu	37	chr11	8737335	8737335	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctgaccagttcccactgcGcagggactggctgttgggtt	5	12	13	11	1	1	1	0	1	1	0	2	2	2	2	2	3	1	5	2	3	0	4			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr11:8737335G>A	ENST00000534127.1	-	9	2045	c.1660C>T	c.(1660-1662)Cgc>Tgc	p.R554C	ST5_ENST00000313726.6_Missense_Mutation_p.R554C|ST5_ENST00000357665.1_Missense_Mutation_p.R554C|ST5_ENST00000526757.1_Missense_Mutation_p.R134C|ST5_ENST00000530991.1_Missense_Mutation_p.R26C|ST5_ENST00000530438.1_Missense_Mutation_p.R134C|ST5_ENST00000526099.1_Missense_Mutation_p.R67C	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	554					positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		TTCCCACTGCGCAGGGACTGG	0.622													7	111					0	0	1	0	0	A	8737335	G	A	8737335	3	1	247	1	0	0	0	0	1	0	0	0	15276	1087	38	1	1813	1	ST5	11	8737335	Missense_Mutation	SNP	G	TCGA-KK-A6DY-01A-12D-A30X-08		8737335	126269181	25	13017											
PLEKHA5	54477	broad.mit.edu	37	chr12	19436440	19436440	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcagctctacgaatggcagCagcgtcagttttataacaaa	13	9	10	9	2	2	0	1	0	1	0	2	1	2	0	0	2	5	5	0	2	5	4			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr12:19436440C>T	ENST00000538714.1	+	11	1526	c.1522C>T	c.(1522-1524)Cag>Tag	p.Q508*	PLEKHA5_ENST00000543806.1_Nonsense_Mutation_p.Q400*|PLEKHA5_ENST00000317589.4_Nonsense_Mutation_p.Q508*|PLEKHA5_ENST00000424268.1_Nonsense_Mutation_p.Q400*|PLEKHA5_ENST00000355397.3_Nonsense_Mutation_p.Q508*|PLEKHA5_ENST00000539256.1_Nonsense_Mutation_p.Q266*|PLEKHA5_ENST00000429027.2_Nonsense_Mutation_p.Q514*|PLEKHA5_ENST00000299275.6_Nonsense_Mutation_p.Q508*|PLEKHA5_ENST00000359180.3_Nonsense_Mutation_p.Q508*|PLEKHA5_ENST00000309364.4_Nonsense_Mutation_p.Q508*|PLEKHA5_ENST00000510738.2_3'UTR	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	508							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					CGAATGGCAGCAGCGTCAGTT	0.478													26	93					0	0	1	0	0	T	19436440	C	T	19436440	4	4	247	1	0	0	0	0	0	1	0	0	12107	711	25	2	1564	2	PLEKHA5	12	19436440	Nonsense_Mutation	SNP	C	TCGA-KK-A6DY-01A-12D-A30X-08		19436440	114415455	26	13018											
DDN	23109	broad.mit.edu	37	chr12	49391578	49391578	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggtgcctggatctgggagCgggatgcggggcacagggag	6	6	22	7	2	1	0	0	0	1	0	1	4	1	4	1	7	3	1	1	7	0	0			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr12:49391578C>T	ENST00000421952.2	-	2	1102	c.1081G>A	c.(1081-1083)Gct>Act	p.A361T		NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	361	Interaction with ACTN1.					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						GATCTGGGAGCGGGATGCGGG	0.607													12	46					0	0	1	0	0	T	49391578	C	T	49391578	3	4	247	1	0	0	0	0	1	0	0	0	4356	768	27	1	1058	1	DDN	12	49391578	Missense_Mutation	SNP	C	TCGA-KK-A6DY-01A-12D-A30X-08	29955138	49391578	84460317	27	13019											
NCKAP1L	3071	broad.mit.edu	37	chr12	54903702	54903702	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagggggctgagcagtggcGcagtgcccaacttctaagcc	8	6	14	13	1	1	1	0	1	1	0	1	1	1	1	3	3	4	3	3	3	2	2			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr12:54903702G>A	ENST00000293373.6	+	7	747	c.668G>A	c.(667-669)cGc>cAc	p.R223H	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R173H|NCKAP1L_ENST00000552211.1_3'UTR	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	223					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	p.R223H(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						GAGCAGTGGCGCAGTGCCCAA	0.512													6	146					0	0	1	0	0	A	54903702	G	A	54903702	3	1	247	1	0	0	0	0	1	0	0	0	10269	1087	38	1	694	1	NCKAP1L	12	54903702	Missense_Mutation	SNP	G	TCGA-KK-A6DY-01A-12D-A30X-08	5512124	54903702	78948193	28	13020											
PAH	5053	broad.mit.edu	37	chr12	103234271	103234271	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtagcgaactgagaagggccGaggtattgtggcagcaaagt	12	7	16	6	2	0	1	0	1	0	1	0	4	0	1	1	3	3	4	1	3	5	3	rs5030858	byFrequency	TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr12:103234271G>A	ENST00000553106.1	-	12	1694	c.1222C>T	c.(1222-1224)Cgg>Tgg	p.R408W	PAH_ENST00000307000.2_Missense_Mutation_p.R403W	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	408			R -> Q (in PKU; haplotypes 4,12).|R -> W (in PKU; haplotypes 1,2,4,5,13,34, 41,44; most common mutation).		catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	GAGAAGGGCCGAGGTATTGTG	0.458													21	76					0	0	1	0	0	A	103234271	G	A	103234271	3	1	247	1	0	0	0	0	1	0	0	0	11441	1057	37	1	144	1	PAH	12	103234271	Missense_Mutation	SNP	G	TCGA-KK-A6DY-01A-12D-A30X-08	48330569	103234271	30617624	29	13021											
FLT3	2322	broad.mit.edu	37	chr13	28608023	28608023	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgtccttccactatactgtaCctttcagcattttgacggca	8	15	6	12	1	1	1	1	1	0	0	3	1	3	1	3	1	3	3	3	1	3	7			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr13:28608023C>G	ENST00000380982.4	-	15	2024		c.e15+1		FLT3_ENST00000241453.7_Splice_Site|FLT3_ENST00000537084.1_Splice_Site			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3						positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	CTATACTGTACCTTTCAGCAT	0.433			"Mis, O"		"AML, ALL"								31	101					0	0	1	0	0	G	28608023	C	G	28608023	5	3	247	1	0	0	0	0	0	0	1	0	5975	521	18	4	1078	4	FLT3	13	28608023	Splice_Site	SNP	C	TCGA-KK-A6DY-01A-12D-A30X-08		28608023	86561855	30	13022											
PRKD1	5587	broad.mit.edu	37	chr14	30068924	30068924	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttttcacttgacaagatcaTttccagcatgtctccatgga	10	14	6	11	0	3	2	2	1	1	1	5	3	4	3	2	1	1	1	2	1	1	4			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr14:30068924T>C	ENST00000331968.5	-	14	2234	c.2005A>G	c.(2005-2007)Atg>Gtg	p.M669V	PRKD1_ENST00000415220.2_Missense_Mutation_p.M677V	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	669	Protein kinase.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		GACAAGATCATTTCCAGCATG	0.378													5	76					0	0	1	0	0	C	30068924	T	C	30068924	3	2	247	1	0	0	0	0	1	0	0	0	12570	1493	52	3	753	3	PRKD1	14	30068924	Missense_Mutation	SNP	T	TCGA-KK-A6DY-01A-12D-A30X-08		30068924	77280616	31	13023											
DUOX2	50506	broad.mit.edu	37	chr15	45399594	45399594	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcactggggtcaatgttgaTaacagcgaccagcacgtccc	10	7	12	12	2	1	1	1	1	0	0	2	2	2	1	2	3	3	3	2	3	2	2			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr15:45399594T>C	ENST00000389039.6	-	14	2027	c.1642A>G	c.(1642-1644)Atc>Gtc	p.I548V	DUOX2_ENST00000603300.1_Missense_Mutation_p.I548V			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	548	Peroxidase-like; mediates peroxidase activity (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		TCAATGTTGATAACAGCGACC	0.522													34	100					0	0	1	0	0	C	45399594	T	C	45399594	3	2	247	1	0	0	0	0	1	0	0	0	4827	1406	49	3	3088	3	DUOX2	15	45399594	Missense_Mutation	SNP	T	TCGA-KK-A6DY-01A-12D-A30X-08		45399594	57131798	32	13024											
TRIP4	9325	broad.mit.edu	37	chr15	64706363	64706363	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggatagatcttctgaagagCctttgggagttctggtaaat	10	14	12	5	0	3	3	0	1	3	2	3	5	3	5	1	3	1	2	1	3	4	5			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr15:64706363C>T	ENST00000261884.3	+	8	1183	c.1123C>T	c.(1123-1125)Cct>Tct	p.P375S		NM_016213.4	NP_057297.2	Q15650	TRIP4_HUMAN	thyroid hormone receptor interactor 4	375					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						TTCTGAAGAGCCTTTGGGAGT	0.448													8	67					0	0	1	0	0	T	64706363	C	T	64706363	3	4	247	1	0	0	0	0	1	0	0	0	16619	739	26	2	1153	2	TRIP4	15	64706363	Missense_Mutation	SNP	C	TCGA-KK-A6DY-01A-12D-A30X-08	19306769	64706363	37825029	33	13025											
PML	5371	broad.mit.edu	37	chr15	74336765	74336765	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcctcccaaacttcttcCgggccctggaggacattaac	8	9	9	15	1	1	0	0	0	1	0	3	2	3	2	4	4	2	0	4	4	2	3			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr15:74336765C>T	ENST00000565898.1	+	8	2005	c.1921C>T	c.(1921-1923)Cgg>Tgg	p.R641W	PML_ENST00000268058.3_Missense_Mutation_p.R689W			P29590	PML_HUMAN	promyelocytic leukemia	689					cell cycle arrest|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 resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						AAACTTCTTCCGGGCCCTGGA	0.647			T	"RARA, PAX5"	"APL, ALL"								4	58					0	0	1	0	0	T	74336765	C	T	74336765	3	4	247	1	0	0	0	0	1	0	0	0	12183	643	23	1	3116	1	PML	15	74336765	Missense_Mutation	SNP	C	TCGA-KK-A6DY-01A-12D-A30X-08	9630402	74336765	28194627	34	13026											
MT1E	4493	broad.mit.edu	37	chr16	56659784	56659784	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atggaccccaactgctcttgCgccactggtaagggaagctc	9	8	11	13	1	1	0	0	0	1	0	2	2	1	2	3	3	4	3	3	3	3	2			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr16:56659784C>T	ENST00000330439.6	+	1	75	c.21C>T	c.(19-21)tgC>tgT	p.C7C	MT1E_ENST00000568293.1_Silent_p.C7C|MT1E_ENST00000306061.6_Silent_p.C7C			P04732	MT1E_HUMAN	metallothionein 1E	7	Beta.					cytoplasm	cadmium ion binding|copper ion binding|zinc ion binding										ACTGCTCTTGCGCCACTGGTA	0.547													4	134					0	0	1	0	0	T	56659784	C	T	56659784	2	4	247	1	0	0	0	0	0	0	0	1	9947	776	27	1		1	MT1E	16	56659784	Silent	SNP	C	TCGA-KK-A6DY-01A-12D-A30X-08		56659784	33694969	35	13027											
TP53	7157	broad.mit.edu	37	chr17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgctcatggtgggggcagCgcctcacaacctccgtcatg	7	7	13	14	3	3	0	3	0	0	0	4	0	4	0	3	3	3	2	3	3	1	0	rs28934578		TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr17:7578406C>T	ENST00000420246.2	-	5	656	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)		GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)			14	32					0	0	1	0	0	T	7578406	C	T	7578406	3	4	247	1	0	0	0	0	1	0	0	0	16442	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-KK-A6DY-01A-12D-A30X-08		7578406	73616804	36	13028											
CEACAM7	1087	broad.mit.edu	37	chr19	42187829	42187829	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgagtagaacgagggtcctgTtgtcagtggagagcagcagc	10	8	16	7	1	1	3	1	1	0	2	2	5	2	3	1	2	4	4	1	2	2	2			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr19:42187829T>C	ENST00000006724.3	-	3	794	c.593A>G	c.(592-594)aAc>aGc	p.N198S	CEACAM7_ENST00000338196.4_Intron|CEACAM7_ENST00000401731.1_Missense_Mutation_p.N198S|CEACAM7_ENST00000602225.1_Intron	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	198	Ig-like C2-type.					anchored to membrane|integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		GAGGGTCCTGTTGTCAGTGGA	0.527													15	144					0	0	1	0	0	C	42187829	T	C	42187829	3	2	247	1	0	0	0	0	1	0	0	0	3219	1725	60	3	212	3	CEACAM7	19	42187829	Missense_Mutation	SNP	T	TCGA-KK-A6DY-01A-12D-A30X-08		42187829	16941154	37	13029											
DPRX	503834	broad.mit.edu	37	chr19	54137875	54137875	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttgttcaatgagaacccatAcccaaaccccagccttcaga	13	8	5	15	0	2	2	2	1	0	2	2	3	2	2	5	0	4	1	5	0	4	4			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr19:54137875A>G	ENST00000376650.1	+	2	170	c.119A>G	c.(118-120)tAc>tGc	p.Y40C		NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	40						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		GAGAACCCATACCCAAACCCC	0.443													15	90					0	0	1	0	0	G	54137875	A	G	54137875	3	3	247	1	0	0	0	0	1	0	0	0	4764	391	14	3	125	3	DPRX	19	54137875	Missense_Mutation	SNP	A	TCGA-KK-A6DY-01A-12D-A30X-08	11950046	54137875	4991108	38	13030											
MYO18B	84700	broad.mit.edu	37	chr22	26304380	26304380	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggaactggaggatgtccGtcagtcctgccagaagcggg	9	6	17	9	2	1	1	1	0	0	1	3	5	3	5	3	5	3	0	3	5	2	0			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr22:26304380G>A	ENST00000335473.7	+	32	5490	c.5240G>A	c.(5239-5241)cGt>cAt	p.R1747H	MYO18B_ENST00000407587.2_Missense_Mutation_p.R1748H|MYO18B_ENST00000536101.1_Missense_Mutation_p.R1747H	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1747	Gln-rich.|Tail.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GAGGATGTCCGTCAGTCCTGC	0.602													3	9					0	0	1	0	0	A	26304380	G	A	26304380	3	1	247	1	0	0	0	0	1	0	0	0	10114	1145	40	1	5362	1	MYO18B	22	26304380	Missense_Mutation	SNP	G	TCGA-KK-A6DY-01A-12D-A30X-08		26304380	25000186	39	13031											
MCM5	4174	broad.mit.edu	37	chr22	35811928	35811928	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggcggagccatggtcctggCcgatggtggggtcgtctgta	4	9	19	9	3	1	0	0	0	1	0	3	2	2	1	3	7	1	1	3	7	1	1			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chr22:35811928C>T	ENST00000216122.4	+	10	1464	c.1310C>T	c.(1309-1311)gCc>gTc	p.A437V	MCM5_ENST00000465557.1_3'UTR|MCM5_ENST00000382011.5_Missense_Mutation_p.A394V	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	437	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						ATGGTCCTGGCCGATGGTGGG	0.577													5	380					0	0	1	0	0	T	35811928	C	T	35811928	3	4	247	1	0	0	0	0	1	0	0	0	9440	739	26	2	1344	2	MCM5	22	35811928	Missense_Mutation	SNP	C	TCGA-KK-A6DY-01A-12D-A30X-08	9507548	35811928	15492638	40	13032											
USP26	83844	broad.mit.edu	37	chrX	132159947	132159947	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttaggaggttctttgtgtGcccctgggtgcctggctttg	2	16	14	9	0	2	0	0	0	2	0	2	1	2	1	3	4	2	2	3	4	1	4			TCGA-KK-A6DY-01A-12D-A30X-08	TCGA-KK-A6DY-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18ee8074-9dce-4718-bedf-7f58f009bffb	0a005527-1b2e-4204-8474-df49da92cb18	g.chrX:132159947G>T	ENST00000511190.1	-	6	2771	c.2302C>A	c.(2302-2304)Cac>Aac	p.H768N	USP26_ENST00000406273.1_Missense_Mutation_p.H768N|USP26_ENST00000370832.1_Missense_Mutation_p.H768N	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	768					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					TTCTTTGTGTGCCCCTGGGTG	0.463													7	60					0.248553	0.248553	1	1	0	T	132159947	G	T	132159947	3	4	247	1	0	0	0	0	1	0	0	0	17117	1319	46	4	442	4	USP26	23	132159947	Missense_Mutation	SNP	G	TCGA-KK-A6DY-01A-12D-A30X-08		132159947	23110613	41	13033											
APOBEC4	403314	broad.mit.edu	37	chr1	183617689	183617689	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggcccttttgcaccaggctAccagaagaagtttttagttc	9	13	9	10	0	0	2	0	0	0	2	1	2	0	2	3	2	2	4	3	2	4	7			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr1:183617689A>T	ENST00000308641.4	-	2	499	c.228T>A	c.(226-228)ggT>ggA	p.G76G	RGL1_ENST00000536277.1_Intron|RGL1_ENST00000304685.3_Intron|APOBEC4_ENST00000481562.1_Intron|RGL1_ENST00000367531.1_Intron	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)	76					mRNA processing		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						GCACCAGGCTACCAGAAGAAG	0.388													5	41					0	0	1	0	0	T	183617689	A	T	183617689	2	4	248	1	0	0	0	0	0	0	0	1	793	378	14	5		5	APOBEC4	1	183617689	Silent	SNP	A	TCGA-KK-A6E0-01A-11D-A30X-08		183617689	65632932	1	13034											
HMCN1	83872	broad.mit.edu	37	chr1	186064439	186064439	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctcaaaggtagttccacCtctatggcatgcattactga	10	13	8	10	0	2	1	1	1	2	0	4	1	3	1	2	2	2	5	2	2	4	5			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr1:186064439C>T	ENST00000271588.4	+	68	10588	c.10359C>T	c.(10357-10359)acC>acT	p.T3453T	HMCN1_ENST00000367492.2_Silent_p.T3453T	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3453	Ig-like C2-type 33.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GTAGTTCCACCTCTATGGCAT	0.493													9	38					0	0	1	0	0	T	186064439	C	T	186064439	2	4	248	1	0	0	0	0	0	0	0	1	7261	668	24	2		2	HMCN1	1	186064439	Silent	SNP	C	TCGA-KK-A6E0-01A-11D-A30X-08	2446750	186064439	63186182	2	13035											
USH2A	7399	broad.mit.edu	37	chr1	216260090	216260090	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcctgaggatggtataacttCgcgggagccctcccagaaag	10	8	12	11	2	0	2	0	1	0	1	3	4	2	4	3	3	2	1	3	3	3	3			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr1:216260090C>T	ENST00000366943.2	-	24	5344	c.4958G>A	c.(4957-4959)cGa>cAa	p.R1653Q	USH2A_ENST00000307340.3_Missense_Mutation_p.R1653Q|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000442606.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1653	Laminin G-like 1.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGTATAACTTCGCGGGAGCCC	0.408										HNSCC(13;0.011)			9	15					0	0	1	0	0	T	216260090	C	T	216260090	3	4	248	1	0	0	0	0	1	0	0	0	17096	884	31	1	10846	1	USH2A	1	216260090	Missense_Mutation	SNP	C	TCGA-KK-A6E0-01A-11D-A30X-08	30195651	216260090	32990531	3	13036											
PUM2	23369	broad.mit.edu	37	chr2	20463106	20463106	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttataccgaagccgggaaggAggaaagagctggctgctgga	12	6	16	7	2	0	1	0	0	0	1	0	6	0	5	2	5	4	3	2	5	5	2			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr2:20463106A>C	ENST00000361078.2	-	13	2095	c.2073T>G	c.(2071-2073)ccT>ccG	p.P691P	PUM2_ENST00000338086.5_Silent_p.P691P|PUM2_ENST00000536417.1_Silent_p.P635P|PUM2_ENST00000319801.5_Silent_p.P612P|PUM2_ENST00000403432.1_Silent_p.P691P			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	691					regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCGGGAAGGAGGAAAGAGCT	0.463													15	30					0	0	1	0	0	C	20463106	A	C	20463106	2	2	248	1	0	0	0	0	0	0	0	1	12878	291	11	5		5	PUM2	2	20463106	Silent	SNP	A	TCGA-KK-A6E0-01A-11D-A30X-08		20463106	222736267	4	13037											
TMEM87B	84910	broad.mit.edu	37	chr2	112813329	112813329	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctctggttagagacagtcaAcgacgtaagtggagtgtcgg	10	9	15	7	3	2	1	1	0	1	1	3	4	2	2	0	3	1	3	0	3	3	2			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr2:112813329A>G	ENST00000283206.4	+	1	530	c.161A>G	c.(160-162)aAc>aGc	p.N54S		NM_032824.2	NP_116213.1	Q96K49	TM87B_HUMAN	transmembrane protein 87B	54						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)	19						GAGACAGTCAACGACGTAAGT	0.711													11	23					0	0	1	0	0	G	112813329	A	G	112813329	3	3	248	1	0	0	0	0	1	0	0	0	16271	43	2	3	163	3	TMEM87B	2	112813329	Missense_Mutation	SNP	A	TCGA-KK-A6E0-01A-11D-A30X-08	92350223	112813329	130386044	5	13038											
LCT	3938	broad.mit.edu	37	chr2	136569967	136569967	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cactttcccctatgggcatgCcattcccggcaaggtatatt	8	12	8	13	1	0	0	0	0	0	0	2	0	2	0	4	3	1	3	4	3	4	6			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr2:136569967C>T	ENST00000264162.2	-	7	2277	c.2267G>A	c.(2266-2268)gGc>gAc	p.G756D		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	756	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	p.G756D(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TATGGGCATGCCATTCCCGGC	0.438													5	59					0	0	1	0	0	T	136569967	C	T	136569967	3	4	248	1	0	0	0	0	1	0	0	0	8732	739	26	2	3560	2	LCT	2	136569967	Missense_Mutation	SNP	C	TCGA-KK-A6E0-01A-11D-A30X-08	23756638	136569967	106629406	6	13039											
LRP1B	53353	broad.mit.edu	37	chr2	141609267	141609267	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttcatcaagtgggggcaCgcacaggcagcactcctatt	10	8	11	12	1	2	0	2	0	0	0	3	0	3	0	1	3	2	5	1	3	2	3			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr2:141609267C>T	ENST00000389484.3	-	28	5636	c.4665G>A	c.(4663-4665)gcG>gcA	p.A1555A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1555					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGTGGGGGCACGCACAGGCAG	0.413										TSP Lung(27;0.18)			20	33					0	0	1	0	0	T	141609267	C	T	141609267	2	4	248	1	0	0	0	0	0	0	0	1	9000	523	19	1		1	LRP1B	2	141609267	Silent	SNP	C	TCGA-KK-A6E0-01A-11D-A30X-08	5039300	141609267	101590106	7	13040											
ASB1	51665	broad.mit.edu	37	chr2	239353281	239353281	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatttggagccaacctgaatCtagtgaagtgggaatcgctg	12	10	12	7	1	1	2	0	2	1	0	2	4	1	4	2	2	2	1	2	2	6	2			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr2:239353281C>T	ENST00000264607.4	+	4	1040	c.793C>T	c.(793-795)Cta>Tta	p.L265L	ASB1_ENST00000409297.1_Silent_p.L164L	NM_001040445.1	NP_001035535.1	Q9Y576	ASB1_HUMAN	ankyrin repeat and SOCS box containing 1	265					intracellular signal transduction|negative regulation of cytokine biosynthetic process					breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)		CAACCTGAATCTAGTGAAGTG	0.562													24	49					0	0	1	0	0	T	239353281	C	T	239353281	2	4	248	1	0	0	0	0	0	0	0	1	1012	912	32	2		2	ASB1	2	239353281	Silent	SNP	C	TCGA-KK-A6E0-01A-11D-A30X-08	97744014	239353281	3846092	8	13041											
C3orf72	401089	broad.mit.edu	37	chr3	138669318	138669323	+	In_Frame_Del	DEL	TGAGCG	TGAGCG	-																															acccggcggcttcccgctccTgagcgggagagaatagagct																										TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr3:138669318_138669323delTGAGCG	ENST00000383165.3	+	3	563_568	c.432_437delTGAGCG	c.(430-438)ccg>cc	p.PER144del		NM_001040061.2	NP_001035150.1	Q6ZUU3	CC072_HUMAN	chromosome 3 open reading frame 72	144										large_intestine(1)|lung(3)	4						TTCCCGCTCCTGAGCGGGAGAGAATA	0.626													17	40	---	---	---	---						-	138669323	TGAGCG	-	138669318	7	5	248	1	0	1	0	1	0	0	0	0	2258	1567	55	0	442	0	C3orf72	3	138669318	In_Frame_Del	DEL	TGAGCG	TCGA-KK-A6E0-01A-11D-A30X-08		138669318	59353112	9	13042											
ATP13A5	344905	broad.mit.edu	37	chr3	193002807	193002807	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagtgtggtggtctcaaaaCttaaaattgaaccaggaatc	15	10	9	7	0	1	1	1	1	1	0	3	2	1	2	1	3	2	0	1	3	6	2			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr3:193002807C>A	ENST00000342358.4	-	27	3239	c.3122G>T	c.(3121-3123)aGt>aTt	p.S1041I	ATP13A5_ENST00000495496.1_5'UTR	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	1041					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GGTCTCAAAACTTAAAATTGA	0.393													13	31					9.31168e-06	1.01333e-05	1	1	0	A	193002807	C	A	193002807	3	1	248	1	0	0	0	0	1	0	0	0	1126	565	20	4	548	4	ATP13A5	3	193002807	Missense_Mutation	SNP	C	TCGA-KK-A6E0-01A-11D-A30X-08	54333489	193002807	5019623	10	13043											
AFM	173	broad.mit.edu	37	chr4	74351740	74351740	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttccctaccctggatccCgaagagaaatgccaggctta	10	9	8	14	1	0	1	0	0	0	1	2	4	2	2	5	2	2	1	5	2	4	3			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr4:74351740C>T	ENST00000226355.3	+	4	525	c.432C>T	c.(430-432)ccC>ccT	p.P144P		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	144	Albumin 1.				vitamin transport		vitamin E binding	p.P144P(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CCCTGGATCCCGAAGAGAAAT	0.388													22	45					0	0	1	0	0	T	74351740	C	T	74351740	2	4	248	1	0	0	0	0	0	0	0	1	360	639	23	1		1	AFM	4	74351740	Silent	SNP	C	TCGA-KK-A6E0-01A-11D-A30X-08		74351740	116802536	11	13044											
ARHGAP26	23092	broad.mit.edu	37	chr5	142264887	142264887	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaaaaagaagtatgacaaaGagacagaaaagtattgtggc	20	6	10	5	0	0	4	0	1	0	3	0	5	0	4	1	1	0	2	1	1	8	3			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr5:142264887G>C	ENST00000378004.3	+	5	764	c.409G>C	c.(409-411)Gag>Cag	p.E137Q	ARHGAP26_ENST00000274498.4_Missense_Mutation_p.E137Q	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	137					actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTATGACAAAGAGACAGAAAA	0.358													13	42					0	0	1	0	0	C	142264887	G	C	142264887	3	2	248	1	0	0	0	0	1	0	0	0	872	943	33	4	427	4	ARHGAP26	5	142264887	Missense_Mutation	SNP	G	TCGA-KK-A6E0-01A-11D-A30X-08		142264887	38650373	12	13045											
FAM71B	153745	broad.mit.edu	37	chr5	156590271	156590271	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctaataccctctgaggatatGttggcagcacctgccatgga	10	10	10	11	0	1	1	0	1	1	0	1	3	1	3	3	3	3	3	3	3	3	4			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr5:156590271G>T	ENST00000302938.4	-	2	1100	c.1005C>A	c.(1003-1005)aaC>aaA	p.N335K		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	335						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTGAGGATATGTTGGCAGCAC	0.567													28	69					1.7881e-09	2.00484e-09	1	1	0	T	156590271	G	T	156590271	3	4	248	1	0	0	0	0	1	0	0	0	5643	1368	48	4	816	4	FAM71B	5	156590271	Missense_Mutation	SNP	G	TCGA-KK-A6E0-01A-11D-A30X-08	14325384	156590271	24324989	13	13046											
ZBTB2	57621	broad.mit.edu	37	chr6	151687732	151687732	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctgtggccgtggatctcGcccgagtttttcaggtgctg	3	13	15	10	3	3	0	1	0	2	0	4	2	3	1	2	4	1	2	2	4	0	2			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr6:151687732G>A	ENST00000325144.4	-	3	609	c.469C>T	c.(469-471)Cga>Tga	p.R157*		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		CGTGGATCTCGCCCGAGTTTT	0.532													20	42					0	0	1	0	0	A	151687732	G	A	151687732	4	1	248	1	0	0	0	0	0	1	0	0	17587	1095	38	1	1079	1	ZBTB2	6	151687732	Nonsense_Mutation	SNP	G	TCGA-KK-A6E0-01A-11D-A30X-08		151687732	19427335	14	13047											
DENND2A	27147	broad.mit.edu	37	chr7	140285506	140285506	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagggttctccttcattggCggatctgtgttcaaaggcaa	9	13	11	8	1	4	0	2	0	2	0	5	1	4	1	1	4	0	3	1	4	3	5			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr7:140285506C>T	ENST00000275884.6	-	4	1545	c.1128G>A	c.(1126-1128)ccG>ccA	p.P376P	DENND2A_ENST00000496613.1_Silent_p.P376P|DENND2A_ENST00000537639.1_Silent_p.P376P|DENND2A_ENST00000492720.1_Silent_p.P376P			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	376										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					CCTTCATTGGCGGATCTGTGT	0.488													4	109					0	0	1	0	0	T	140285506	C	T	140285506	2	4	248	1	0	0	0	0	0	0	0	1	4457	755	27	1		1	DENND2A	7	140285506	Silent	SNP	C	TCGA-KK-A6E0-01A-11D-A30X-08		140285506	18853157	15	13048											
VCPIP1	80124	broad.mit.edu	37	chr8	67579179	67579179	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaacggaggcggcggcggCggcggctgagacatagctcc	7	3	19	12	6	0	1	0	1	0	1	1	3	1	2	1	8	2	3	1	8	2	1			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr8:67579179C>A	ENST00000310421.4	-	1	273	c.15G>T	c.(13-15)ccG>ccT	p.P5P		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	5	Pro-rich.				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			gcggcggcggcggcggcTGAG	0.692													4	13					0.00909568	0.00934834	1	1	0	A	67579179	C	A	67579179	2	1	248	1	0	0	0	0	0	0	0	1	17201	755	27	4		4	VCPIP1	8	67579179	Silent	SNP	C	TCGA-KK-A6E0-01A-11D-A30X-08		67579179	78784843	16	13049											
GTF3C5	9328	broad.mit.edu	37	chr9	135926319	135926319	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccagacgtggaggagagTctgcactaaccccgtggacc	10	5	13	13	2	1	2	0	0	1	2	1	5	1	4	4	3	3	1	4	3	1	1			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr9:135926319T>C	ENST00000372097.5	+	4	1045	c.722T>C	c.(721-723)gTc>gCc	p.V241A	GTF3C5_ENST00000372108.5_Missense_Mutation_p.V241A|GTF3C5_ENST00000372099.6_Missense_Mutation_p.V232A|GTF3C5_ENST00000342018.8_Intron|GTF3C5_ENST00000372095.5_Missense_Mutation_p.V116A	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	241						transcription factor TFIIIC complex	DNA binding|protein binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		TGGAGGAGAGTCTGCACTAAC	0.642													7	20					0	0	1	0	0	C	135926319	T	C	135926319	3	2	248	1	0	0	0	0	1	0	0	0	6917	1667	58	3	736	3	GTF3C5	9	135926319	Missense_Mutation	SNP	T	TCGA-KK-A6E0-01A-11D-A30X-08		135926319	5287112	17	13050											
ADAMTS14	140766	broad.mit.edu	37	chr10	72503837	72503837	+	Frame_Shift_Del	DEL	A	A	-																															ctcagcctgtcggctgtgacAaggaggtggggtccatgaag																										TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr10:72503837delA	ENST00000373208.1	+	14	2083	c.2083delA	c.(2083-2085)agfs	p.K695fs	ADAMTS14_ENST00000373207.1_Frame_Shift_Del_p.K692fs	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	692	Cys-rich.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CGGCTGTGACAAGGAGGTGGG	0.667													2	4	---	---	---	---						-	72503837	A	-	72503837	7	5	248	1	0	1	0	1	0	0	0	0	258	131	5	0	2137	0	ADAMTS14	10	72503837	Frame_Shift_Del	DEL	A	TCGA-KK-A6E0-01A-11D-A30X-08		72503837	63030910	18	13051											
SLC5A12	159963	broad.mit.edu	37	chr11	26725366	26725366	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatgtagtcgagatccattTgttgattgctctaatacatt	11	17	7	6	1	1	2	0	1	1	1	3	3	2	2	1	0	2	3	1	0	4	8			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr11:26725366T>C	ENST00000396005.3	-	5	963	c.654A>G	c.(652-654)acA>acG	p.T218T	SLC5A12_ENST00000280467.6_Silent_p.T218T	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	218					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						GAGATCCATTTGTTGATTGCT	0.358													40	73					0	0	1	0	0	C	26725366	T	C	26725366	2	2	248	1	0	0	0	0	0	0	0	1	14719	1799	63	3		3	SLC5A12	11	26725366	Silent	SNP	T	TCGA-KK-A6E0-01A-11D-A30X-08		26725366	108281150	19	13052											
TMEM132A	54972	broad.mit.edu	37	chr11	60702905	60702905	+	Missense_Mutation	SNP	C	C	A																															ggcacagtcagcccttcccgCcccaaagcaggtgacagttg																										TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr11:60702905C>A	ENST00000005286.4	+	10	2174	c.2021C>A	c.(2020-2022)gCc>gAc	p.A674D	TMEM132A_ENST00000453848.2_Missense_Mutation_p.A673D	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	673	Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						GCCCTTCCCGCCCCAAAGCAG	0.642													3	5					6.4e-05	6.76571e-05	1	1	0	A	60702905	C	A	60702905	3	1	248	1	0	0	0	0	1	0	0	0	16105	739	26	4	2059	4	TMEM132A	11	60702905	Missense_Mutation	SNP	C	TCGA-KK-A6E0-01A-11D-A30X-08	33977539	60702905	74303611	20	13053	65	2									
TMEM132A	54972	broad.mit.edu	37	chr11	60702907	60702907	+	Missense_Mutation	SNP	C	C	T																															cacagtcagcccttcccgccCcaaagcaggtgacagttggg																										TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr11:60702907C>T	ENST00000005286.4	+	10	2176	c.2023C>T	c.(2023-2025)Cca>Tca	p.P675S	TMEM132A_ENST00000453848.2_Missense_Mutation_p.P674S	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	674	Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CCTTCCCGCCCCAAAGCAGGT	0.647													3	6					0	0	1	0	0	T	60702907	C	T	60702907	3	4	248	1	0	0	0	0	1	0	0	0	16105	623	22	2	2061	2	TMEM132A	11	60702907	Missense_Mutation	SNP	C	TCGA-KK-A6E0-01A-11D-A30X-08	2	60702907	74303609	21	13054	65	2									
CCDC88B	283234	broad.mit.edu	37	chr11	64107744	64107744	+	Frame_Shift_Del	DEL	G	G	-																															caccccgacccgggcatggaGgggggcaaggggcccaggct																										TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr11:64107744delG	ENST00000356786.5	+	1	50	c.6delG	c.(4-6)gafs	p.E2fs	CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	2					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CGGGCATGGAGGGGGGCAAGG	0.692													2	4	---	---	---	---						-	64107744	G	-	64107744	7	5	248	1	0	1	0	1	0	0	0	0	2884	991	35	0	8	0	CCDC88B	11	64107744	Frame_Shift_Del	DEL	G	TCGA-KK-A6E0-01A-11D-A30X-08	3404837	64107744	70898772	22	13055											
BICD1	636	broad.mit.edu	37	chr12	32369195	32369195	+	Silent	SNP	C	C	G																															ctgcaggcatttgggcagtcCttctccatccaccggaaggt																										TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr12:32369195C>G	ENST00000548411.1	+	2	409	c.228C>G	c.(226-228)tcC>tcG	p.S76S	BICD1_ENST00000281474.5_Silent_p.S76S	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	76					anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			TTGGGCAGTCCTTCTCCATCC	0.463													4	54					0	0	1	0	0	G	32369195	C	G	32369195	2	3	248	1	0	0	0	0	0	0	0	1	1427	668	24	4		4	BICD1	12	32369195	Silent	SNP	C	TCGA-KK-A6E0-01A-11D-A30X-08		32369195	101482700	23	13056	66	2									
BICD1	636	broad.mit.edu	37	chr12	32369197	32369197	+	Missense_Mutation	SNP	T	T	C																															gcaggcatttgggcagtcctTctccatccaccggaaggttg																										TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr12:32369197T>C	ENST00000548411.1	+	2	411	c.230T>C	c.(229-231)tTc>tCc	p.F77S	BICD1_ENST00000281474.5_Missense_Mutation_p.F77S	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	77					anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			GGGCAGTCCTTCTCCATCCAC	0.463													4	54					0	0	1	0	0	C	32369197	T	C	32369197	3	2	248	1	0	0	0	0	1	0	0	0	1427	1783	62	3	236	3	BICD1	12	32369197	Missense_Mutation	SNP	T	TCGA-KK-A6E0-01A-11D-A30X-08	2	32369197	101482698	24	13057	66	2									
MDM1	56890	broad.mit.edu	37	chr12	68719231	68719231	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attaagctacctgattggctGcaaaagctggagcagtttct	11	12	10	8	0	1	1	0	1	1	0	1	2	1	2	1	2	5	6	1	2	4	4			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr12:68719231G>A	ENST00000303145.7	-	4	709	c.623C>T	c.(622-624)gCa>gTa	p.A208V	MDM1_ENST00000545724.1_5'UTR|MDM1_ENST00000540418.1_5'UTR|MDM1_ENST00000430606.2_3'UTR|MDM1_ENST00000411698.2_Intron|MDM1_ENST00000393543.3_3'UTR	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	208						nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		CTGATTGGCTGCAAAAGCTGG	0.338													4	112					0	0	1	0	0	A	68719231	G	A	68719231	3	1	248	1	0	0	0	0	1	0	0	0	9462	1319	46	2	1565	2	MDM1	12	68719231	Missense_Mutation	SNP	G	TCGA-KK-A6E0-01A-11D-A30X-08	36350034	68719231	65132664	25	13058											
IFT81	28981	broad.mit.edu	37	chr12	110630424	110630424	+	Frame_Shift_Del	DEL	G	G	-																															tttttgttcaaataacaggtGaaaaaactgtattcattggt																										TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr12:110630424delG	ENST00000242591.5	+	14	1976	c.1470delG	c.(1468-1470)gtfs	p.V490fs	IFT81_ENST00000552912.1_Frame_Shift_Del_p.V490fs	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81 homolog (Chlamydomonas)	490					cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum		p.L493fs*7(1)		endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						AATAACAGGTGAAAAAACTGT	0.279													12	25	---	---	---	---						-	110630424	G	-	110630424	7	5	248	1	0	1	0	1	0	0	0	0	7609	1277	45	0	1632	0	IFT81	12	110630424	Frame_Shift_Del	DEL	G	TCGA-KK-A6E0-01A-11D-A30X-08	41911193	110630424	23221471	26	13059											
RFC3	5983	broad.mit.edu	37	chr13	34392356	34392356	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtatcggccctgctccttggGacggctggactatcacaagg	7	9	13	12	2	1	0	1	0	0	0	3	2	2	2	2	5	1	3	2	5	3	3	rs140507898		TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr13:34392356G>A	ENST00000380071.3	+	1	171	c.41G>A	c.(40-42)gGa>gAa	p.G14E	RFC3_ENST00000434425.1_Missense_Mutation_p.G14E	NM_002915.3	NP_002906.1	P40938	RFC3_HUMAN	replication factor C (activator 1) 3, 38kDa	14					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|response to organophosphorus|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			lung(2)|skin(1)	3		Hepatocellular(188;0.0191)|Lung SC(185;0.0548)		all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123)		TGCTCCTTGGGACGGCTGGAC	0.701													10	37					0	0	1	0	0	A	34392356	G	A	34392356	3	1	248	1	0	0	0	0	1	0	0	0	13298	1174	41	2	43	2	RFC3	13	34392356	Missense_Mutation	SNP	G	TCGA-KK-A6E0-01A-11D-A30X-08		34392356	80777522	27	13060											
PIGQ	9091	broad.mit.edu	37	chr16	624161	624161	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgggtgccggagcagagcagCgccgtggtcctggcggtcct	4	7	18	12	4	0	1	0	0	0	1	2	2	2	2	4	5	4	2	4	5	0	0			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr16:624161C>A	ENST00000321878.5	+	2	246	c.87C>A	c.(85-87)agC>agA	p.S29R	PIGQ_ENST00000409527.2_Missense_Mutation_p.S29R|PIGQ_ENST00000470411.2_Missense_Mutation_p.S29R|PIGQ_ENST00000026218.5_Missense_Mutation_p.S29R	NM_004204.3	NP_004195.2	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	29					C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				AGCAGAGCAGCGCCGTGGTCC	0.697													4	36					0.014758	0.014758	1	1	0	A	624161	C	A	624161	3	1	248	1	0	0	0	0	1	0	0	0	11944	767	27	4	89	4	PIGQ	16	624161	Missense_Mutation	SNP	C	TCGA-KK-A6E0-01A-11D-A30X-08		624161	89730592	28	13061											
MIS12	79003	broad.mit.edu	37	chr17	5392653	5392653	+	Frame_Shift_Del	DEL	T	T	-																															aaactcaaacagacgttgacTttctttgatgagcttcataa																										TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr17:5392653delT	ENST00000381165.3	+	3	1024	c.471delT	c.(469-471)acfs	p.T157fs	MIS12_ENST00000573759.1_Frame_Shift_Del_p.T157fs	NM_001258217.1|NM_001258219.1|NM_001258220.1|NM_024039.2	NP_001245146.1|NP_001245148.1|NP_001245149.1|NP_076944.1	Q9H081	MIS12_HUMAN	MIS12 kinetochore complex component	157					cell division|chromosome segregation|kinetochore assembly|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(2)	12						AGACGTTGACTTTCTTTGATG	0.398													79	156	---	---	---	---						-	5392653	T	-	5392653	7	5	248	1	0	1	0	1	0	0	0	0	9642	1596	56	0	473	0	MIS12	17	5392653	Frame_Shift_Del	DEL	T	TCGA-KK-A6E0-01A-11D-A30X-08		5392653	75802557	29	13062											
KRT15	3866	broad.mit.edu	37	chr17	39672161	39672161	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgagctgggactgcagctcGatctccagctcctgcatcgt	6	10	11	14	2	1	1	0	1	1	0	5	3	2	2	2	1	5	5	2	1	0	0			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr17:39672161G>A	ENST00000254043.3	-	5	4587	c.1002C>T	c.(1000-1002)atC>atT	p.I334I	KRT15_ENST00000393976.2_Silent_p.I334I|KRT15_ENST00000393981.3_Silent_p.I169I|KRT15_ENST00000393974.3_Silent_p.I169I	NM_002275.3	NP_002266.2	P19012	K1C15_HUMAN	keratin 15	334	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				ACTGCAGCTCGATCTCCAGCT	0.577													51	91					0	0	1	0	0	A	39672161	G	A	39672161	2	1	248	1	0	0	0	0	0	0	0	1	8495	1048	37	1		1	KRT15	17	39672161	Silent	SNP	G	TCGA-KK-A6E0-01A-11D-A30X-08	34279508	39672161	41523049	30	13063											
SPOP	8405	broad.mit.edu	37	chr17	47696426	47696426	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctacggatgaatttcttgaAtccccagtctttgccttgca	8	15	7	11	1	3	2	0	2	3	0	4	3	4	3	3	1	3	1	3	1	3	5			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr17:47696426A>T	ENST00000393331.3	-	7	867	c.397T>A	c.(397-399)Ttc>Atc	p.F133I	SPOP_ENST00000504102.1_Missense_Mutation_p.F133I|SPOP_ENST00000503676.1_Missense_Mutation_p.F133I|SPOP_ENST00000393328.2_Missense_Mutation_p.F133I|SPOP_ENST00000347630.2_Missense_Mutation_p.F133I	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	133	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.F133V(4)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						AATTTCTTGAATCCCCAGTCT	0.448										Prostate(2;0.17)			31	79					0	0	1	0	0	T	47696426	A	T	47696426	3	4	248	1	0	0	0	0	1	0	0	0	15140	101	4	5	751	5	SPOP	17	47696426	Missense_Mutation	SNP	A	TCGA-KK-A6E0-01A-11D-A30X-08	8024265	47696426	33498784	31	13064											
ZBTB7A	51341	broad.mit.edu	37	chr19	4054988	4054988	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcgcggtgagcgcctcggcGctgacgaagtcgatctcgta	7	7	15	12	8	1	2	0	2	1	0	4	4	1	2	1	2	2	2	1	2	2	1			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr19:4054988G>A	ENST00000322357.4	-	2	521	c.243C>T	c.(241-243)agC>agT	p.S81S	ZBTB7A_ENST00000601588.1_Silent_p.S81S	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	81	BTB.				cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGCCTCGGCGCTGACGAAGT	0.662													16	14					0	0	1	0	0	A	4054988	G	A	4054988	2	1	248	1	0	0	0	0	0	0	0	1	17612	1078	38	1		1	ZBTB7A	19	4054988	Silent	SNP	G	TCGA-KK-A6E0-01A-11D-A30X-08		4054988	55073995	32	13065											
SHANK1	50944	broad.mit.edu	37	chr19	51217085	51217085	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggcagtgtcgggcgcatgcGgccttatgcagtgcggtcat	6	9	16	10	4	1	0	1	0	0	0	2	0	1	0	1	4	3	3	1	4	1	1			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr19:51217085G>A	ENST00000293441.1	-	5	780	c.762C>T	c.(760-762)gcC>gcT	p.A254A	SHANK1_ENST00000359082.3_Silent_p.A254A|SHANK1_ENST00000391814.1_Silent_p.A254A	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	254					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GGGCGCATGCGGCCTTATGCA	0.637													8	57					0	0	1	0	0	A	51217085	G	A	51217085	2	1	248	1	0	0	0	0	0	0	0	1	14319	1103	39	1		1	SHANK1	19	51217085	Silent	SNP	G	TCGA-KK-A6E0-01A-11D-A30X-08	47162097	51217085	7911898	33	13066											
POTEH	23784	broad.mit.edu	37	chr22	16287548	16287548	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aagtgcccacgttgctcttgCcgctccccctgcagcagggg	5	8	12	16	2	1	0	0	0	1	0	2	0	2	0	4	2	5	5	4	2	1	2			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr22:16287548C>T	ENST00000343518.6	-	1	389	c.338G>A	c.(337-339)gGc>gAc	p.G113D		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	113										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						GTTGCTCTTGCCGCTCCCCCT	0.592													5	186					0	0	1	0	0	T	16287548	C	T	16287548	3	4	248	1	0	0	0	0	1	0	0	0	12314	739	26	2	1339	2	POTEH	22	16287548	Missense_Mutation	SNP	C	TCGA-KK-A6E0-01A-11D-A30X-08		16287548	35017018	34	13067											
BCL2L13	23786	broad.mit.edu	37	chr22	18178954	18178954	+	Frame_Shift_Del	DEL	T	T	-																															atgtacactggagaccacagTtcatgccagcggctggaata																										TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr22:18178954delT	ENST00000317582.5	+	5	781	c.434delT	c.(433-435)gtfs	p.V145fs	BCL2L13_ENST00000493680.1_Frame_Shift_Del_p.V145fs|BCL2L13_ENST00000337612.5_Intron|BCL2L13_ENST00000418951.2_Intron|BCL2L13_ENST00000355028.3_Intron|BCL2L13_ENST00000399782.1_Frame_Shift_Del_p.V145fs|BCL2L13_ENST00000538149.1_Intron|BCL2L13_ENST00000543133.1_5'UTR	NM_015367.2	NP_056182.2	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	145					induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity			breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2)	15		all_epithelial(15;0.123)		Lung(27;0.199)		GAGACCACAGTTCATGCCAGC	0.378													8	38	---	---	---	---						-	18178954	T	-	18178954	7	5	248	1	0	1	0	1	0	0	0	0	1369	1725	60	0	448	0	BCL2L13	22	18178954	Frame_Shift_Del	DEL	T	TCGA-KK-A6E0-01A-11D-A30X-08	1891406	18178954	33125612	35	13068											
MKL1	57591	broad.mit.edu	37	chr22	40816928	40816928	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggatctgcagctggaggaaGagctgctgctgctgcaggat	9	8	16	8	0	1	1	0	0	1	1	1	5	1	5	0	4	7	7	0	4	1	0			TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr22:40816928G>C	ENST00000396617.3	-	10	1394	c.804C>G	c.(802-804)ctC>ctG	p.L268L	MKL1_ENST00000402042.1_Silent_p.L218L|MKL1_ENST00000355630.3_Silent_p.L268L|MKL1_ENST00000407029.1_Silent_p.L268L			Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	268	Gln-rich.				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GCTGGAGGAAGAGCTGCTGCT	0.627			T	RBM15	acute megakaryocytic leukemia								16	36					0	0	1	0	0	C	40816928	G	C	40816928	2	2	248	1	0	0	0	0	0	0	0	1	9649	929	33	4		4	MKL1	22	40816928	Silent	SNP	G	TCGA-KK-A6E0-01A-11D-A30X-08	22637974	40816928	10487638	36	13069											
SAMM50	25813	broad.mit.edu	37	chr22	44386201	44386201	+	Frame_Shift_Del	DEL	G	G	-																															agtgcatccgctggtcgtacGgggccgggattgtcctcagg																										TCGA-KK-A6E0-01A-11D-A30X-08	TCGA-KK-A6E0-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e0f93cb-4c8a-4ac0-849d-2956c14fd8f8	a320937d-7093-4543-b6a9-f0b8137d1255	g.chr22:44386201delG	ENST00000350028.4	+	14	1436	c.1279delG	c.(1279-1281)ggfs	p.G427fs	SAMM50_ENST00000396202.3_Frame_Shift_Del_p.G217fs	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	427					protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding			endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				CTGGTCGTACGGGGCCGGGAT	0.562													21	59	---	---	---	---						-	44386201	G	-	44386201	7	5	248	1	0	1	0	1	0	0	0	0	13881	1116	39	0	1333	0	SAMM50	22	44386201	Frame_Shift_Del	DEL	G	TCGA-KK-A6E0-01A-11D-A30X-08	3569273	44386201	6918365	37	13070											
CCDC28B	79140	broad.mit.edu	37	chr1	32670247	32670248	+	Frame_Shift_Del	DEL	TG	TG	-																															ctttccaaggaacccgtctaTgtgtgtgtgttcctgagagg																										TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr1:32670247_32670248delTG	ENST00000421922.2	+	5	674_675	c.574_575delTG	c.(574-576)tfs	p.C192fs	CCDC28B_ENST00000483009.1_Intron|CCDC28B_ENST00000373602.5_Intron			Q9BUN5	CC28B_HUMAN	coiled-coil domain containing 28B	0										large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				AACCCGTCTATGTGTGTGTGTT	0.5													7	307	---	---	---	---						-	32670248	TG	-	32670247	7	5	249	1	0	1	0	1	0	0	0	0	2822	1479	51	0		0	CCDC28B	1	32670247	Frame_Shift_Del	DEL	TG	TCGA-KK-A6E1-01A-11D-A30X-08		32670247	216580374	1	13071											
CYP4Z1	199974	broad.mit.edu	37	chr1	47533298	47533298	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgatcagagccctgcacctgTttcctgcaccccctgcccac	6	9	7	19	0	1	2	1	1	0	1	2	2	2	2	6	0	4	3	6	0	0	1			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr1:47533298T>C	ENST00000334194.3	+	1	139	c.136T>C	c.(136-138)Ttt>Ctt	p.F46L		NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	46						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						CCTGCACCTGTTTCCTGCACC	0.498													31	43					0	0	1	0	0	C	47533298	T	C	47533298	3	2	249	1	0	0	0	0	1	0	0	0	4217	1725	60	3	138	3	CYP4Z1	1	47533298	Missense_Mutation	SNP	T	TCGA-KK-A6E1-01A-11D-A30X-08	14863051	47533298	201717323	2	13072											
SPTA1	6708	broad.mit.edu	37	chr1	158655065	158655065	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgaaactttgataccgagTcaacacttcctgacgcctct	10	12	6	13	2	2	3	1	3	1	0	3	4	3	3	3	0	3	0	3	0	3	4			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr1:158655065T>A	ENST00000368148.3	-	2	277	c.97A>T	c.(97-99)Act>Tct	p.T33S	SPTA1_ENST00000368147.3_Missense_Mutation_p.T33S	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	33					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGATACCGAGTCAACACTTCC	0.478													40	81					0	0	1	0	0	A	158655065	T	A	158655065	3	1	249	1	0	0	0	0	1	0	0	0	15172	1667	58	5	7366	5	SPTA1	1	158655065	Missense_Mutation	SNP	T	TCGA-KK-A6E1-01A-11D-A30X-08	111121767	158655065	90595556	3	13073											
OR2C3	81472	broad.mit.edu	37	chr1	247695157	247695157	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acggcccgggcaatgtggccGtaagagaccaggatgagccc	10	4	15	12	3	0	2	0	1	0	1	0	4	0	3	4	4	1	2	4	4	2	1			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr1:247695157G>A	ENST00000366487.3	-	2	1018	c.657C>T	c.(655-657)taC>taT	p.Y219Y	GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000463359.1_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			CAATGTGGCCGTAAGAGACCA	0.542													4	62					0	0	1	0	0	A	247695157	G	A	247695157	2	1	249	1	0	0	0	0	0	0	0	1	11041	1140	40	1		1	OR2C3	1	247695157	Silent	SNP	G	TCGA-KK-A6E1-01A-11D-A30X-08	89040092	247695157	1555464	4	13074											
CTNNA2	1496	broad.mit.edu	37	chr2	80874771	80874771	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgaatgctgttgtcctcaCggtgaaagcatcctatgtgg	9	12	12	8	1	1	2	1	2	0	0	3	3	3	2	2	2	2	3	2	2	3	2			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr2:80874771C>T	ENST00000466387.1	+	22	3216	c.2492C>T	c.(2491-2493)aCg>aTg	p.T831M	CTNNA2_ENST00000540488.1_Missense_Mutation_p.T786M|CTNNA2_ENST00000402739.4_Missense_Mutation_p.T879M|CTNNA2_ENST00000496558.1_Missense_Mutation_p.T831M|CTNNA2_ENST00000361291.4_Missense_Mutation_p.T865M|CTNNA2_ENST00000343114.3_Missense_Mutation_p.T510M|CTNNA2_ENST00000541047.1_Missense_Mutation_p.T831M			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	879					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GTTGTCCTCACGGTGAAAGCA	0.478													44	65					0	0	1	0	0	T	80874771	C	T	80874771	3	4	249	1	0	0	0	0	1	0	0	0	4037	536	19	1	2350	1	CTNNA2	2	80874771	Missense_Mutation	SNP	C	TCGA-KK-A6E1-01A-11D-A30X-08		80874771	162324602	5	13075											
GCC2	9648	broad.mit.edu	37	chr2	109106455	109106455	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaactgtgtccaaagaggCggaactccgggaaaagtaag	15	5	14	7	2	0	1	0	0	0	1	2	4	2	4	2	4	2	1	2	4	6	1			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr2:109106455C>T	ENST00000309863.6	+	18	4928	c.4214C>T	c.(4213-4215)gCg>gTg	p.A1405V		NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1405					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						TCCAAAGAGGCGGAACTCCGG	0.398													10	20					0	0	1	0	0	T	109106455	C	T	109106455	3	4	249	1	0	0	0	0	1	0	0	0	6326	768	27	1	4284	1	GCC2	2	109106455	Missense_Mutation	SNP	C	TCGA-KK-A6E1-01A-11D-A30X-08	28231684	109106455	134092918	6	13076											
CNTNAP5	129684	broad.mit.edu	37	chr2	125521715	125521715	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttaaagacttcattcgactcGaaataagctgtaagtgccct	13	12	7	9	2	1	1	1	0	0	1	3	3	1	1	1	0	2	2	1	0	5	5			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr2:125521715G>A	ENST00000431078.1	+	16	2885	c.2521G>A	c.(2521-2523)Gaa>Aaa	p.E841K		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	841	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CATTCGACTCGAAATAAGCTG	0.373													30	57					0	0	1	0	0	A	125521715	G	A	125521715	3	1	249	1	0	0	0	0	1	0	0	0	3673	1059	37	1	2583	1	CNTNAP5	2	125521715	Missense_Mutation	SNP	G	TCGA-KK-A6E1-01A-11D-A30X-08	16415260	125521715	117677658	7	13077											
NEB	4703	broad.mit.edu	37	chr2	152410424	152410424	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccattcgtggaggcgcaggCggtaatcaatctcactgact	9	10	11	11	3	2	1	2	1	1	0	5	2	3	2	1	4	0	2	1	4	2	2			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr2:152410424C>T	ENST00000397345.3	-	126	19746	c.19544G>A	c.(19543-19545)cGc>cAc	p.R6515H	NEB_ENST00000603639.1_Missense_Mutation_p.R6515H|NEB_ENST00000427231.2_Missense_Mutation_p.R6515H|NEB_ENST00000604864.1_Missense_Mutation_p.R6515H|NEB_ENST00000172853.10_Missense_Mutation_p.R4814H|NEB_ENST00000409198.1_Missense_Mutation_p.R4814H	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	4814	Interaction with SVIL.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GAGGCGCAGGCGGTAATCAAT	0.468													36	48					0	0	1	0	0	T	152410424	C	T	152410424	3	4	249	1	0	0	0	0	1	0	0	0	10349	768	27	1	6370	1	NEB	2	152410424	Missense_Mutation	SNP	C	TCGA-KK-A6E1-01A-11D-A30X-08	26888709	152410424	90788949	8	13078											
DNER	92737	broad.mit.edu	37	chr2	230271991	230271991	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacgtgccattcaggccgtcGctgtcacaggtggctccgtt	5	10	12	14	4	2	0	2	0	0	0	4	0	3	0	3	3	1	3	3	3	0	2			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr2:230271991G>T	ENST00000341772.4	-	10	1814	c.1680C>A	c.(1678-1680)agC>agA	p.S560R		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	560	EGF-like 9.|Follistatin-like.				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity	p.S560S(1)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		TCAGGCCGTCGCTGTCACAGG	0.512													6	121					0.000442599	0.000442599	1	1	0	T	230271991	G	T	230271991	3	4	249	1	0	0	0	0	1	0	0	0	4694	1078	38	4	549	4	DNER	2	230271991	Missense_Mutation	SNP	G	TCGA-KK-A6E1-01A-11D-A30X-08	77861567	230271991	12927382	9	13079											
NBEAL2	23218	broad.mit.edu	37	chr3	47038461	47038461	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggcttgtaagaacaacatCtgcctggacctgtcccccag	10	9	9	13	0	1	1	0	0	1	1	2	2	2	2	4	2	3	2	4	2	4	3			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr3:47038461C>A	ENST00000450053.3	+	18	2753	c.2574C>A	c.(2572-2574)atC>atA	p.I858I	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Silent_p.I858I	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	858							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		AGAACAACATCTGCCTGGACC	0.622													8	27					0.000274275	0.000282342	1	1	0	A	47038461	C	A	47038461	2	1	249	1	0	0	0	0	0	0	0	1	10237	903	32	4		4	NBEAL2	3	47038461	Silent	SNP	C	TCGA-KK-A6E1-01A-11D-A30X-08		47038461	150983969	10	13080											
PARP9	83666	broad.mit.edu	37	chr3	122274491	122274491	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caatggccctctgcagctttCcagtacatccctgtttatcc	7	13	6	15	0	1	0	0	0	1	0	4	0	4	0	4	1	3	4	4	1	3	4			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr3:122274491C>T	ENST00000462315.1	-	4	820	c.527G>A	c.(526-528)gGa>gAa	p.G176E	PARP9_ENST00000360356.2_Missense_Mutation_p.G211E|PARP9_ENST00000471785.1_Missense_Mutation_p.G176E|PARP9_ENST00000477522.2_Missense_Mutation_p.G176E|PARP9_ENST00000492382.1_Intron	NM_001146106.1	NP_001139578.1	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	211	Macro 1.				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		CTGCAGCTTTCCAGTACATCC	0.463													7	35					0	0	1	0	0	T	122274491	C	T	122274491	3	4	249	1	0	0	0	0	1	0	0	0	11513	855	30	2	2017	2	PARP9	3	122274491	Missense_Mutation	SNP	C	TCGA-KK-A6E1-01A-11D-A30X-08	75236030	122274491	75747939	11	13081											
ADCY5	111	broad.mit.edu	37	chr3	123049810	123049810	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccttgcttcaggcagcccCgagacgcagtaataacaatc	11	7	9	14	2	1	1	1	0	0	1	2	2	1	1	3	1	3	4	3	1	3	4			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr3:123049810C>T	ENST00000462833.1	-	5	2784	c.1572G>A	c.(1570-1572)tcG>tcA	p.S524S	ADCY5_ENST00000491190.1_Silent_p.S157S|ADCY5_ENST00000309879.5_Silent_p.S174S	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	524	Guanylate cyclase 1.				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CAGGCAGCCCCGAGACGCAGT	0.478													8	37					0	0	1	0	0	T	123049810	C	T	123049810	2	4	249	1	0	0	0	0	0	0	0	1	296	639	23	1		1	ADCY5	3	123049810	Silent	SNP	C	TCGA-KK-A6E1-01A-11D-A30X-08	775319	123049810	74972620	12	13082											
DBR1	51163	broad.mit.edu	37	chr3	137880744	137880746	+	In_Frame_Del	DEL	TCA	TCA	-																															aatcatcttaagctgcatcgTcatcatcatcatccactgca																										TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr3:137880744_137880746delTCA	ENST00000260803.4	-	8	1773_1775	c.1620_1622delTGA	c.(1618-1623)gac>ga	p.DD540del	DBR1_ENST00000505015.2_In_Frame_Del_p.DD306del	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	540						nucleus	metal ion binding|RNA lariat debranching enzyme activity			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						AGCTGCATCGTCATCATCATCAT	0.399													7	475	---	---	---	---						-	137880746	TCA	-	137880744	7	5	249	1	0	1	0	1	0	0	0	0	4281	1667	58	0	16	0	DBR1	3	137880744	In_Frame_Del	DEL	TCA	TCGA-KK-A6E1-01A-11D-A30X-08	14830934	137880744	60141686	13	13083											
RGMB	285704	broad.mit.edu	37	chr5	98115306	98115306	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gactgccaacagccagcccaAtgtcgaatccagaaatgcac	14	5	8	14	1	0	1	0	0	0	1	2	3	1	1	4	0	5	1	4	0	4	0			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr5:98115306A>C	ENST00000308234.7	+	4	684	c.282A>C	c.(280-282)caA>caC	p.Q94H	RGMB_ENST00000513185.1_Missense_Mutation_p.Q53H|RGMB_ENST00000504776.1_3'UTR	NM_001012761.2	NP_001012779.2	Q6NW40	RGMB_HUMAN	repulsive guidance molecule family member b	53					axon guidance|BMP signaling pathway|cell adhesion|positive regulation of transcription, DNA-dependent	anchored to plasma membrane|ER-Golgi intermediate compartment|membrane raft	identical protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		AGCCAGCCCAATGTCGAATCC	0.468													88	108					0	0	1	0	0	C	98115306	A	C	98115306	3	2	249	1	0	0	0	0	1	0	0	0	13333	98	4	5	292	5	RGMB	5	98115306	Missense_Mutation	SNP	A	TCGA-KK-A6E1-01A-11D-A30X-08		98115306	82799954	14	13084											
PCDHGB7	0	broad.mit.edu	37	chr5	140799248	140799248	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcctggctgtcctaccacGtggtgcaggccagtgagccc	6	8	13	14	1	0	1	0	1	0	0	1	1	1	1	5	3	4	2	5	3	1	1			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr5:140799248G>A	ENST00000398594.2	+	1	1822	c.1822G>A	c.(1822-1824)Gtg>Atg	p.V608M	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018927.3	NP_061750.1														central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCCTACCACGTGGTGCAGGC	0.687													4	105					0	0	1	0	0	A	140799248	G	A	140799248	3	1	249	1	0	0	0	0	1	0	0	0	11615	1145	40	1	1824	1	PCDHGB7	5	140799248	Missense_Mutation	SNP	G	TCGA-KK-A6E1-01A-11D-A30X-08	42683942	140799248	40116012	15	13085											
PCDH12	51294	broad.mit.edu	37	chr5	141336228	141336228	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttcagcctgaagtggcccaGctcttggctcagccagcagt	7	10	11	13	0	3	1	2	1	1	0	3	1	3	1	3	2	4	3	3	2	1	2			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr5:141336228G>C	ENST00000231484.3	-	1	2399	c.1189C>G	c.(1189-1191)Ctg>Gtg	p.L397V		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	397	Cadherin 4.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGTGGCCCAGCTCTTGGCTC	0.488													5	96					0	0	1	0	0	C	141336228	G	C	141336228	3	2	249	1	0	0	0	0	1	0	0	0	11557	962	34	4	2381	4	PCDH12	5	141336228	Missense_Mutation	SNP	G	TCGA-KK-A6E1-01A-11D-A30X-08	536980	141336228	39579032	16	13086											
TNRC18	84629	broad.mit.edu	37	chr7	5363890	5363890	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccgccacgcggcaggtgctCgtcctcagagaagctcgagt	7	6	13	15	5	1	1	1	0	0	1	4	3	2	1	3	2	2	3	3	2	1	0			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr7:5363890C>T	ENST00000399537.4	-	21	6745	c.6397G>A	c.(6397-6399)Gag>Aag	p.E2133K	TNRC18_ENST00000430969.1_Missense_Mutation_p.E2133K			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2133							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GGCAGGTGCTCGTCCTCAGAG	0.682													5	25					0	0	1	0	0	T	5363890	C	T	5363890	3	4	249	1	0	0	0	0	1	0	0	0	16399	893	31	1	2549	1	TNRC18	7	5363890	Missense_Mutation	SNP	C	TCGA-KK-A6E1-01A-11D-A30X-08		5363890	153774773	17	13087											
TEX15	56154	broad.mit.edu	37	chr8	30701886	30701886	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtcaagtcagactgcgagtCtttactaactttaatttccc	10	15	6	10	1	3	1	2	0	1	1	4	2	4	1	1	0	3	0	1	0	4	6			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr8:30701886C>T	ENST00000256246.2	-	1	4722	c.4648G>A	c.(4648-4650)Gac>Aac	p.D1550N		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1550										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GACTGCGAGTCTTTACTAACT	0.388													38	70					0	0	1	0	0	T	30701886	C	T	30701886	3	4	249	1	0	0	0	0	1	0	0	0	15838	913	32	2	3737	2	TEX15	8	30701886	Missense_Mutation	SNP	C	TCGA-KK-A6E1-01A-11D-A30X-08		30701886	115662136	18	13088											
IL11RA	3590	broad.mit.edu	37	chr9	34657044	34657044	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctctagaccctccagcccGccctgttgtctcctgccaag	5	9	8	19	1	2	1	0	0	2	1	4	1	3	1	7	0	2	1	7	0	2	2			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr9:34657044G>A	ENST00000555003.1	+	5	1700	c.344G>A	c.(343-345)cGc>cAc	p.R115H	IL11RA_ENST00000441545.2_Missense_Mutation_p.R115H|IL11RA_ENST00000602473.1_Missense_Mutation_p.R115H|GALT_ENST00000556278.1_Missense_Mutation_p.259_259insH|IL11RA_ENST00000478802.2_3'UTR|IL11RA_ENST00000378817.4_Missense_Mutation_p.R115H|IL11RA_ENST00000318041.9_Missense_Mutation_p.R115H			Q14626	I11RA_HUMAN	interleukin 11 receptor, alpha	115	Fibronectin type-III 1.					integral to plasma membrane	cytokine receptor activity			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	Oprelvekin(DB00038)	CCTCCAGCCCGCCCTGTTGTC	0.592													24	58					0	0	1	0	0	A	34657044	G	A	34657044	3	1	249	1	0	0	0	0	1	0	0	0	7667	1087	38	1	358	1	IL11RA	9	34657044	Missense_Mutation	SNP	G	TCGA-KK-A6E1-01A-11D-A30X-08		34657044	106556387	19	13089											
MYO3A	53904	broad.mit.edu	37	chr10	26377234	26377234	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgacaattctagcagatttGgaaaatacttagaaatgaaa	19	11	7	4	0	1	4	0	2	1	2	1	5	1	5	0	1	2	1	0	1	8	5			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr10:26377234G>T	ENST00000265944.5	+	15	1628	c.1462G>T	c.(1462-1464)Gga>Tga	p.G488*	MYO3A_ENST00000543632.1_Nonsense_Mutation_p.G488*	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	488	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TAGCAGATTTGGAAAATACTT	0.378													31	55					7.16923e-06	7.84134e-06	1	1	0	T	26377234	G	T	26377234	4	4	249	1	0	0	0	0	0	1	0	0	10124	1349	47	4	1512	4	MYO3A	10	26377234	Nonsense_Mutation	SNP	G	TCGA-KK-A6E1-01A-11D-A30X-08		26377234	109157513	20	13090											
A1CF	29974	broad.mit.edu	37	chr10	52596043	52596043	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataatcggcagttgtccacaCtggcacaaacccctaagagg	13	7	9	12	1	0	1	0	0	0	1	2	1	1	1	3	3	1	3	3	3	3	3			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr10:52596043C>T	ENST00000395489.2	-	8	770	c.374G>A	c.(373-375)aGt>aAt	p.S125N	A1CF_ENST00000395495.1_Missense_Mutation_p.S132N|A1CF_ENST00000373993.1_Missense_Mutation_p.S132N|A1CF_ENST00000373995.3_Missense_Mutation_p.S140N|A1CF_ENST00000282641.2_Missense_Mutation_p.S132N|A1CF_ENST00000374001.1_Missense_Mutation_p.S132N|A1CF_ENST00000373997.3_Missense_Mutation_p.S132N	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	132	RRM 1.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						GTTGTCCACACTGGCACAAAC	0.433													31	39					0	0	1	0	0	T	52596043	C	T	52596043	3	4	249	1	0	0	0	0	1	0	0	0	2	565	20	2	1421	2	A1CF	10	52596043	Missense_Mutation	SNP	C	TCGA-KK-A6E1-01A-11D-A30X-08	26218809	52596043	82938704	21	13091											
PTEN	5728	broad.mit.edu	37	chr10	89692959	89692960	+	Frame_Shift_Ins	INS	-	-	A																															cggggcaaatttttaaaggcINSacaagaggccctagatttct																										TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr10:89692959_89692960insA	ENST00000371953.3	+	5	1800_1801	c.443_444insA	c.(442-444)gcafs	p.A148fs		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	148	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.K147fs*5(1)|p.A148E(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TTTTTAAAGGCACAAGAGGCCC	0.381		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			40	24	---	---	---	---						A	89692960	-	A	89692959	7	5	249	1	0	1	1	0	0	0	0	0	12787	710	25	0	461	0	PTEN	10	89692959	Frame_Shift_Ins	INS	-	TCGA-KK-A6E1-01A-11D-A30X-08	37096916	89692959	45841788	22	13092											
CELA1	1990	broad.mit.edu	37	chr12	51737623	51737623	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	taccgggaacctccagaccgGtactggagggaaatctagat	12	7	12	10	2	1	2	0	0	1	2	2	5	2	5	4	4	3	1	4	4	5	3			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr12:51737623G>A	ENST00000293636.1	-	3	154	c.114C>T	c.(112-114)taC>taT	p.Y38Y		NM_001971.5	NP_001962.3	Q9UNI1	CELA1_HUMAN	chymotrypsin-like elastase family, member 1	38	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						CTCCAGACCGGTACTGGAGGG	0.502													4	8					0	0	1	0	0	A	51737623	G	A	51737623	2	1	249	1	0	0	0	0	0	0	0	1	3232	1256	44	2		2	CELA1	12	51737623	Silent	SNP	G	TCGA-KK-A6E1-01A-11D-A30X-08		51737623	82114272	23	13093											
POLR3B	55703	broad.mit.edu	37	chr12	106820973	106820973	+	Splice_Site	DEL	A	A	-																															atacctttttttttttttttAgcttttatctcttctttttg																										TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr12:106820973delA	ENST00000228347.4	+	13	1323		c.e13-1		POLR3B_ENST00000549195.1_Splice_Site|POLR3B_ENST00000539066.1_Splice_Site	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B						innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TTTTTTTTTTAGCTTTTATCT	0.269													2	4	---	---	---	---						-	106820973	A	-	106820973	8	5	249	1	0	1	0	1	0	0	1	0	12277	434	15	0	1150	0	POLR3B	12	106820973	Splice_Site	DEL	A	TCGA-KK-A6E1-01A-11D-A30X-08	55083350	106820973	27030922	24	13094											
HTR2A	3356	broad.mit.edu	37	chr13	47409098	47409099	+	Frame_Shift_Ins	INS	-	-	T																															tggcatcttgctttgaattcINStttttttgtcccatttgaag																										TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr13:47409098_47409099insT	ENST00000378688.4	-	3	1420_1421	c.1289_1290insA	c.(1288-1290)aaafs	p.K430fs	HTR2A_ENST00000542664.1_Frame_Shift_Ins_p.K430fs|HTR2A_ENST00000543956.1_Frame_Shift_Ins_p.K346fs			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	430					ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	GCTTTGAATTCTTTTTTTGTCC	0.401													45	43	---	---	---	---						T	47409099	-	T	47409098	7	5	249	1	0	1	1	0	0	0	0	0	7485	912	32	0	129	0	HTR2A	13	47409098	Frame_Shift_Ins	INS	-	TCGA-KK-A6E1-01A-11D-A30X-08		47409098	67760780	25	13095											
CCDC70	83446	broad.mit.edu	37	chr13	52439722	52439722	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacttcagggaagagatgTggactttccgaggcaagatc	12	8	14	7	1	1	2	1	0	0	2	3	7	2	5	1	4	0	1	1	4	2	2			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr13:52439722T>C	ENST00000242819.4	+	2	504	c.208T>C	c.(208-210)Tgg>Cgg	p.W70R		NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70	70						extracellular region|plasma membrane				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		GGAAGAGATGTGGACTTTCCG	0.468													32	52					0	0	1	0	0	C	52439722	T	C	52439722	3	2	249	1	0	0	0	0	1	0	0	0	2863	1696	59	3	210	3	CCDC70	13	52439722	Missense_Mutation	SNP	T	TCGA-KK-A6E1-01A-11D-A30X-08	5030624	52439722	62730156	26	13096											
STK24	8428	broad.mit.edu	37	chr13	99127163	99127163	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttttgatctgggtgtctGtcagctggccagccacgcca	5	12	11	13	1	3	1	1	1	2	0	4	1	4	1	4	2	2	1	4	2	0	2			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr13:99127163G>T	ENST00000397517.2	-	5	585	c.509C>A	c.(508-510)aCa>aAa	p.T170K	STK24_ENST00000376547.3_Missense_Mutation_p.T182K|STK24_ENST00000539966.1_Missense_Mutation_p.T151K	NM_001032296.2	NP_001027467.2	Q9Y6E0	STK24_HUMAN	serine/threonine kinase 24	182	Protein kinase.				cellular component disassembly involved in apoptosis|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CTGGGTGTCTGTCAGCTGGCC	0.612													13	33					1.49906e-05	1.58991e-05	1	1	0	T	99127163	G	T	99127163	3	4	249	1	0	0	0	0	1	0	0	0	15349	1377	48	4	814	4	STK24	13	99127163	Missense_Mutation	SNP	G	TCGA-KK-A6E1-01A-11D-A30X-08	46687441	99127163	16042715	27	13097											
CTSG	1511	broad.mit.edu	37	chr14	25043658	25043658	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtccctcctgggctctaggCagagccactgggttcacgtt	6	10	12	13	1	2	1	1	0	1	1	4	1	4	1	3	3	1	4	3	3	1	3			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr14:25043658C>A	ENST00000216336.2	-	4	423	c.387G>T	c.(385-387)ctG>ctT	p.L129L		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	129	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		GGGCTCTAGGCAGAGCCACTG	0.627													21	107					1.50039e-11	1.69399e-11	1	1	0	A	25043658	C	A	25043658	2	1	249	1	0	0	0	0	0	0	0	1	4059	697	25	4		4	CTSG	14	25043658	Silent	SNP	C	TCGA-KK-A6E1-01A-11D-A30X-08		25043658	82305882	28	13098											
VSX2	338917	broad.mit.edu	37	chr14	74726471	74726471	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggcatcatggactcctgtgCcccgtggctactgggtaaga	7	10	13	11	1	1	1	1	0	0	1	2	2	2	2	3	4	2	3	3	4	2	2			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr14:74726471C>T	ENST00000261980.2	+	4	836	c.746C>T	c.(745-747)gCc>gTc	p.A249V		NM_182894.2	NP_878314.1	P58304	VSX2_HUMAN	visual system homeobox 2	249	CVC.				multicellular organismal development|response to stimulus|visual perception	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00154)		GACTCCTGTGCCCCGTGGCTA	0.657													3	19					0	0	1	0	0	T	74726471	C	T	74726471	3	4	249	1	0	0	0	0	1	0	0	0	17292	739	26	2	760	2	VSX2	14	74726471	Missense_Mutation	SNP	C	TCGA-KK-A6E1-01A-11D-A30X-08	49682813	74726471	32623069	29	13099											
SCG3	29106	broad.mit.edu	37	chr15	51975311	51975311	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagacaagattaaaaaaacAtatcctccaggtaaaaagaa	23	6	6	6	0	0	3	0	0	0	3	2	4	2	3	2	1	1	1	2	1	11	3			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr15:51975311A>G	ENST00000220478.3	+	3	574	c.171A>G	c.(169-171)acA>acG	p.T57T	SCG3_ENST00000542355.2_5'UTR	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	57					platelet activation|platelet degranulation	extracellular region|stored secretory granule				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		TTAAAAAAACATATCCTCCAG	0.343													39	42					0	0	1	0	0	G	51975311	A	G	51975311	2	3	249	1	0	0	0	0	0	0	0	1	13945	204	8	3		3	SCG3	15	51975311	Silent	SNP	A	TCGA-KK-A6E1-01A-11D-A30X-08		51975311	50556081	30	13100											
CACNA1G	8913	broad.mit.edu	37	chr17	48678110	48678110	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggggaacgggtccgcgcGtggatccgagcccgactccc	8	4	15	14	6	0	0	0	0	0	0	3	4	3	2	4	4	2	0	4	4	2	0			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr17:48678110G>A	ENST00000352832.5	+	17	4017	c.3645G>A	c.(3643-3645)gcG>gcA	p.A1215A	CACNA1G_ENST00000512389.1_Silent_p.A1238A|CACNA1G_ENST00000416767.4_Silent_p.A1238A|CACNA1G_ENST00000515765.1_Silent_p.A1238A|CACNA1G_ENST00000510366.1_Silent_p.A1238A|CACNA1G_ENST00000515411.1_Silent_p.A1238A|CACNA1G_ENST00000510115.1_Silent_p.A1215A|CACNA1G_ENST00000360761.4_Silent_p.A1215A|CACNA1G_ENST00000514717.1_Silent_p.A1215A|CACNA1G_ENST00000507510.2_Silent_p.A1238A|CACNA1G_ENST00000514181.1_Silent_p.A1238A|CACNA1G_ENST00000507609.1_Silent_p.A1238A|CACNA1G_ENST00000514079.1_Silent_p.A1238A|CACNA1G_ENST00000507336.1_Silent_p.A1238A|CACNA1G_ENST00000513689.2_Silent_p.A1238A|CACNA1G_ENST00000503485.1_Silent_p.A1238A|CACNA1G_ENST00000505165.1_Silent_p.A1238A|CACNA1G_ENST00000513964.1_Silent_p.A1238A|CACNA1G_ENST00000515165.1_Silent_p.A1238A|CACNA1G_ENST00000507896.1_Silent_p.A1238A|CACNA1G_ENST00000502264.1_Silent_p.A1215A|CACNA1G_ENST00000442258.2_Silent_p.A1215A|CACNA1G_ENST00000429973.2_Silent_p.A1238A|CACNA1G_ENST00000359106.5_Silent_p.A1238A|CACNA1G_ENST00000358244.5_Silent_p.A1215A|CACNA1G_ENST00000354983.4_Silent_p.A1215A	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1238					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GGGTCCGCGCGTGGATCCGAG	0.632													30	47					0	0	1	0	0	A	48678110	G	A	48678110	2	1	249	1	0	0	0	0	0	0	0	1	2562	1132	40	1		1	CACNA1G	17	48678110	Silent	SNP	G	TCGA-KK-A6E1-01A-11D-A30X-08		48678110	32517100	31	13101											
MYH7B	57644	broad.mit.edu	37	chr20	33567504	33567504	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagctgcagcccatgaaccCgcctcgcttcgacttactgg	7	8	10	16	4	0	1	0	1	0	0	2	3	0	1	3	1	5	3	3	1	2	2			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr20:33567504C>T	ENST00000262873.7	+	5	457	c.365C>T	c.(364-366)cCg>cTg	p.P122L		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	80	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity	p.P122Q(1)		NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CCCATGAACCCGCCTCGCTTC	0.637													30	47					0	0	1	0	0	T	33567504	C	T	33567504	3	4	249	1	0	0	0	0	1	0	0	0	10088	652	23	1	383	1	MYH7B	20	33567504	Missense_Mutation	SNP	C	TCGA-KK-A6E1-01A-11D-A30X-08		33567504	29458016	32	13102											
MYH9	4627	broad.mit.edu	37	chr22	36680210	36680210	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtggcgtcctccagctcGcgctgcagtttccggcggga	4	9	14	14	5	1	0	1	0	0	0	5	1	4	1	3	3	2	4	3	3	0	1			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr22:36680210G>A	ENST00000216181.5	-	40	5924	c.5694C>T	c.(5692-5694)cgC>cgT	p.R1898R	MYH9_ENST00000475726.1_5'UTR	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1898					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CCTCCAGCTCGCGCTGCAGTT	0.667			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated				4	101					0	0	1	0	0	A	36680210	G	A	36680210	2	1	249	1	0	0	0	0	0	0	0	1	10090	1074	38	1		1	MYH9	22	36680210	Silent	SNP	G	TCGA-KK-A6E1-01A-11D-A30X-08		36680210	14624356	33	13103											
SULT4A1	25830	broad.mit.edu	37	chr22	44234801	44234801	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggtgcctcggtagctcaTggtccgcagagagcggtgga	9	7	16	9	3	1	1	1	0	0	1	3	3	2	2	2	5	3	3	2	5	2	1			TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chr22:44234801T>A	ENST00000330884.4	-	4	574	c.454A>T	c.(454-456)Atg>Ttg	p.M152L	SULT4A1_ENST00000249130.5_Missense_Mutation_p.M152L|SULT4A1_ENST00000540422.1_Intron	NM_014351.3	NP_055166.1	Q9BR01	ST4A1_HUMAN	sulfotransferase family 4A, member 1	152					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	sulfotransferase activity			kidney(1)|large_intestine(3)|lung(4)|ovary(1)	9		Ovarian(80;0.024)|all_neural(38;0.0416)		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)		CGGTAGCTCATGGTCCGCAGA	0.532													25	48					0	0	1	0	0	A	44234801	T	A	44234801	3	1	249	1	0	0	0	0	1	0	0	0	15439	1464	51	5	416	5	SULT4A1	22	44234801	Missense_Mutation	SNP	T	TCGA-KK-A6E1-01A-11D-A30X-08	7554591	44234801	7069765	34	13104											
DOCK11	139818	broad.mit.edu	37	chrX	117775256	117775256	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaccatatcatttttcacTcagtgcttcaaggtaaaaat	14	13	5	9	0	4	0	4	0	0	0	4	1	4	0	1	1	1	2	1	1	5	5	rs137900857		TCGA-KK-A6E1-01A-11D-A30X-08	TCGA-KK-A6E1-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13b7e087-b8c9-4aca-82d5-bad335e8c8ac	94ff6d8f-9403-4266-a6a8-0c264a0116fd	g.chrX:117775256T>C	ENST00000276204.6	+	39	4322	c.4248T>C	c.(4246-4248)acT>acC	p.T1416T	DOCK11_ENST00000276202.7_Silent_p.T1416T			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1416					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CATTTTTCACTCAGTGCTTCA	0.383													18	22					0	0	1	0	0	C	117775256	T	C	117775256	2	2	249	1	0	0	0	0	0	0	0	1	4713	1538	54	3		3	DOCK11	23	117775256	Silent	SNP	T	TCGA-KK-A6E1-01A-11D-A30X-08		117775256	37495304	35	13105											
PTGFRN	5738	broad.mit.edu	37	chr1	117484587	117484587	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaaggcggactgccaacgaCgccgtggagctccacataaa	12	6	11	12	4	0	0	0	0	0	0	1	3	1	2	3	3	3	1	3	3	4	2			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr1:117484587C>T	ENST00000393203.2	+	2	447	c.300C>T	c.(298-300)gaC>gaT	p.D100D		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	100	Ig-like C2-type 1.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		CTGCCAACGACGCCGTGGAGC	0.587													9	45					0	0	1	0	0	T	117484587	C	T	117484587	2	4	250	1	0	0	0	0	0	0	0	1	12800	535	19	1		1	PTGFRN	1	117484587	Silent	SNP	C	TCGA-KK-A6E2-01A-11D-A30X-08		117484587	131766034	1	13106											
EPRS	2058	broad.mit.edu	37	chr1	220170573	220170573	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttcttggcttttaattcacGaaccacatctccttgaacag	10	15	5	11	1	3	1	1	1	2	0	4	2	3	1	2	1	2	1	2	1	3	6			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr1:220170573G>A	ENST00000366923.3	-	18	2562	c.2293C>T	c.(2293-2295)Cgt>Tgt	p.R765C	EPRS_ENST00000464052.1_5'UTR	NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	765	3 X 57 AA approximate repeats.|WHEP-TRS 1.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	TTTAATTCACGAACCACATCT	0.388													31	55					0	0	1	0	0	A	220170573	G	A	220170573	3	1	250	1	0	0	0	0	1	0	0	0	5219	1058	37	1	2305	1	EPRS	1	220170573	Missense_Mutation	SNP	G	TCGA-KK-A6E2-01A-11D-A30X-08	102685986	220170573	29080048	2	13107											
IFT172	26160	broad.mit.edu	37	chr2	27677277	27677277	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aattcagcttcagcctcttcGaatttaccctacagggagag	11	11	8	11	1	3	1	2	0	1	1	4	3	3	1	2	1	4	1	2	1	4	6			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr2:27677277G>A	ENST00000260570.3	-	32	3577	c.3474C>T	c.(3472-3474)ttC>ttT	p.F1158F		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	1158					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CAGCCTCTTCGAATTTACCCT	0.522													24	67					0	0	1	0	0	A	27677277	G	A	27677277	2	1	250	1	0	0	0	0	0	0	0	1	7601	1049	37	1		1	IFT172	2	27677277	Silent	SNP	G	TCGA-KK-A6E2-01A-11D-A30X-08		27677277	215522096	3	13108											
APLF	200558	broad.mit.edu	37	chr2	68765198	68765198	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattgttcgagtgcccagggCgactcacttcaggatgagtc	9	10	12	10	2	2	1	2	1	0	0	4	4	2	2	1	2	1	1	1	2	1	3			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr2:68765198C>T	ENST00000303795.4	+	7	1170	c.999C>T	c.(997-999)ggC>ggT	p.G333G	APLF_ENST00000471727.1_3'UTR	NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	333					double-strand break repair|single strand break repair	cytosol|nucleus	3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						GTGCCCAGGGCGACTCACTTC	0.423													6	54					0	0	1	0	0	T	68765198	C	T	68765198	2	4	250	1	0	0	0	0	0	0	0	1	772	755	27	1		1	APLF	2	68765198	Silent	SNP	C	TCGA-KK-A6E2-01A-11D-A30X-08	41087921	68765198	174434175	4	13109											
ZNF35	7584	broad.mit.edu	37	chr3	44700678	44700678	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagagaatccacactggaCagaaaccttatgtttgctca	14	10	7	10	0	2	2	2	0	0	2	3	4	3	3	2	1	2	2	2	1	3	2			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr3:44700678C>A	ENST00000396056.2	+	4	1058	c.823C>A	c.(823-825)Cag>Aag	p.Q275K	RP11-944L7.4_ENST00000457331.1_RNA|ZNF35_ENST00000296092.3_3'UTR|ZNF35_ENST00000542250.1_Missense_Mutation_p.Q115K	NM_003420.3	NP_003411.3	P13682	ZNF35_HUMAN	zinc finger protein 35	275					cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		CCACACTGGACAGAAACCTTA	0.423													4	60					0.000602214	0.000644035	1	1	0	A	44700678	C	A	44700678	3	1	250	1	0	0	0	0	1	0	0	0	17919	479	17	4	833	4	ZNF35	3	44700678	Missense_Mutation	SNP	C	TCGA-KK-A6E2-01A-11D-A30X-08		44700678	153321752	5	13110											
COL6A6	131873	broad.mit.edu	37	chr3	130289977	130289977	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgaagcccggggcagccGcctgaacaagggggtccccc	8	3	14	16	2	0	2	0	2	0	0	1	2	1	2	5	4	3	1	5	4	3	0			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr3:130289977G>A	ENST00000358511.6	+	6	2748	c.2717G>A	c.(2716-2718)cGc>cAc	p.R906H	COL6A6_ENST00000453409.2_Missense_Mutation_p.R906H	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	906	Nonhelical region.|VWFA 5.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CGGGGCAGCCGCCTGAACAAG	0.547													5	18					0	0	1	0	0	A	130289977	G	A	130289977	3	1	250	1	0	0	0	0	1	0	0	0	3726	1087	38	1	2739	1	COL6A6	3	130289977	Missense_Mutation	SNP	G	TCGA-KK-A6E2-01A-11D-A30X-08	85589299	130289977	67732453	6	13111											
PCDHB15	0	broad.mit.edu	37	chr5	140627360	140627360	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccagggcatctggtggaCgtgagcggcaccgggaccct	6	8	15	12	3	1	1	0	1	1	0	2	3	2	3	3	5	1	2	3	5	0	1			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr5:140627360C>T	ENST00000231173.3	+	1	2214	c.2214C>T	c.(2212-2214)gaC>gaT	p.D738D		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		738					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATCTGGTGGACGTGAGCGGCA	0.602													5	180					0	0	1	0	0	T	140627360	C	T	140627360	2	4	250	1	0	0	0	0	0	0	0	1	11587	535	19	1		1	PCDHB15	5	140627360	Silent	SNP	C	TCGA-KK-A6E2-01A-11D-A30X-08		140627360	40287900	7	13112											
RBM27	54439	broad.mit.edu	37	chr5	145664215	145664215	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagggccaaaatttaaagacCgtcggctacagatatcatgg	15	8	10	8	2	1	2	1	0	0	2	2	2	1	2	2	3	1	1	2	3	7	4			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr5:145664215C>T	ENST00000265271.5	+	20	3185	c.3019C>T	c.(3019-3021)Cgt>Tgt	p.R1007C	RBM27_ENST00000506502.1_Intron	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	1007					mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATTTAAAGACCGTCGGCTACA	0.378													49	69					0	0	1	0	0	T	145664215	C	T	145664215	3	4	250	1	0	0	0	0	1	0	0	0	13179	652	23	1	3097	1	RBM27	5	145664215	Missense_Mutation	SNP	C	TCGA-KK-A6E2-01A-11D-A30X-08	5036855	145664215	35251045	8	13113											
MIOS	54468	broad.mit.edu	37	chr7	7613322	7613322	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatcaaggtatggacttgatAcagagcaggtgtggaggaac	13	9	14	5	0	1	2	1	1	0	1	1	5	1	5	0	5	3	2	0	5	5	4			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr7:7613322A>G	ENST00000340080.4	+	4	1637	c.1216A>G	c.(1216-1218)Aca>Gca	p.T406A	MIOS_ENST00000405785.1_Missense_Mutation_p.T406A	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	406										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGGACTTGATACAGAGCAGGT	0.373													5	81					0	0	1	0	0	G	7613322	A	G	7613322	3	3	250	1	0	0	0	0	1	0	0	0	9637	391	14	3	1218	3	MIOS	7	7613322	Missense_Mutation	SNP	A	TCGA-KK-A6E2-01A-11D-A30X-08		7613322	151525341	9	13114											
LRRN3	54674	broad.mit.edu	37	chr7	110764636	110764637	+	Frame_Shift_Ins	INS	-	-	A																															accatctatcagaaaaacagINSaaaaaaatgtgtaaatgtca																										TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr7:110764636_110764637insA	ENST00000451085.1	+	4	2854_2855	c.1808_1809insA	c.(1807-1809)aaafs	p.K603fs	IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000489381.1_Intron|LRRN3_ENST00000308478.5_Frame_Shift_Ins_p.K603fs|IMMP2L_ENST00000331762.3_Intron|LRRN3_ENST00000422987.3_Frame_Shift_Ins_p.K603fs|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000447215.1_Intron	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	603	Fibronectin type-III.					integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		CAGAAAAACAGAAAAAAATGTG	0.356													8	26	---	---	---	---						A	110764637	-	A	110764636	7	5	250	1	0	1	1	0	0	0	0	0	9081	942	33	0	1810	0	LRRN3	7	110764636	Frame_Shift_Ins	INS	-	TCGA-KK-A6E2-01A-11D-A30X-08	103151314	110764636	48374027	10	13115											
CSMD1	64478	broad.mit.edu	37	chr8	3141832	3141832	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccagaccttgaggatgtcGtgagccatctccgtgtcgaa	8	10	11	12	3	1	3	0	2	1	1	5	5	2	4	4	1	1	0	4	1	1	1			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr8:3141832G>A	ENST00000520002.1	-	27	4545	c.3990C>T	c.(3988-3990)caC>caT	p.H1330H	CSMD1_ENST00000602723.1_Silent_p.H1330H|CSMD1_ENST00000400186.3_Silent_p.H1330H|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000602557.1_Silent_p.H1330H|CSMD1_ENST00000542608.1_Silent_p.H1329H|CSMD1_ENST00000539096.1_Silent_p.H1329H|CSMD1_ENST00000537824.1_Silent_p.H1329H			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1330	CUB 8.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGAGGATGTCGTGAGCCATCT	0.567											OREG0018505	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	29					0	0	1	0	0	A	3141832	G	A	3141832	2	1	250	1	0	0	0	0	0	0	0	1	3969	1136	40	1		1	CSMD1	8	3141832	Silent	SNP	G	TCGA-KK-A6E2-01A-11D-A30X-08		3141832	143222190	11	13116											
ST18	9705	broad.mit.edu	37	chr8	53079446	53079446	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcactttgtgggggcacccCgaaaggctgcggtggtgcgg	5	7	18	11	4	0	0	0	0	0	0	0	1	0	0	2	6	2	3	2	6	1	1			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr8:53079446C>G	ENST00000276480.7	-	11	1853	c.1170G>C	c.(1168-1170)tcG>tcC	p.S390S		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	390						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S390S(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GGGGGCACCCCGAAAGGCTGC	0.562													10	82					0	0	1	0	0	G	53079446	C	G	53079446	2	3	250	1	0	0	0	0	0	0	0	1	15268	639	23	4		4	ST18	8	53079446	Silent	SNP	C	TCGA-KK-A6E2-01A-11D-A30X-08	49937614	53079446	93284576	12	13117											
RP1	6101	broad.mit.edu	37	chr8	55538088	55538088	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagtgcaataagtgctggtgTtatagaaattacaagtcaga	16	11	10	4	0	1	2	1	0	0	2	1	2	1	2	0	1	3	3	0	1	8	4			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr8:55538088T>C	ENST00000220676.1	+	4	1794	c.1646T>C	c.(1645-1647)gTt>gCt	p.V549A		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	549					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AGTGCTGGTGTTATAGAAATT	0.333													19	33					0	0	1	0	0	C	55538088	T	C	55538088	3	2	250	1	0	0	0	0	1	0	0	0	13584	1725	60	3	1656	3	RP1	8	55538088	Missense_Mutation	SNP	T	TCGA-KK-A6E2-01A-11D-A30X-08	2458642	55538088	90825934	13	13118											
ZFHX4	79776	broad.mit.edu	37	chr8	77616490	77616490	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacctgaaaacggatgagcGcaaaagtgaagccttgctgg	14	6	12	9	2	0	3	0	3	0	0	0	4	0	4	2	2	5	2	2	2	6	1			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr8:77616490G>A	ENST00000521891.2	+	2	615	c.167G>A	c.(166-168)cGc>cAc	p.R56H	ZFHX4_ENST00000518282.1_Missense_Mutation_p.R56H|ZFHX4_ENST00000050961.6_Missense_Mutation_p.R56H|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.R56H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	56						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ACGGATGAGCGCAAAAGTGAA	0.498										HNSCC(33;0.089)			9	79					0	0	1	0	0	A	77616490	G	A	77616490	3	1	250	1	0	0	0	0	1	0	0	0	17693	1087	38	1	169	1	ZFHX4	8	77616490	Missense_Mutation	SNP	G	TCGA-KK-A6E2-01A-11D-A30X-08	22078402	77616490	68747532	14	13119											
RALYL	138046	broad.mit.edu	37	chr8	85441793	85441793	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctggagaaaatgccagagtCatcgccggccaaccacttgg	11	6	12	12	2	1	2	1	0	0	2	2	3	1	2	4	3	2	1	4	3	3	1			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr8:85441793C>G	ENST00000521268.1	+	2	1342	c.237C>G	c.(235-237)gtC>gtG	p.V79V	RALYL_ENST00000518566.1_Silent_p.V79V|RALYL_ENST00000521695.1_Silent_p.V79V|RALYL_ENST00000522455.1_Silent_p.V79V|RALYL_ENST00000517638.1_Silent_p.V92V	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	79	RRM.						identical protein binding|nucleotide binding|RNA binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						ATGCCAGAGTCATCGCCGGCC	0.428													3	39					0	0	1	0	0	G	85441793	C	G	85441793	2	3	250	1	0	0	0	0	0	0	0	1	13072	813	29	4		4	RALYL	8	85441793	Silent	SNP	C	TCGA-KK-A6E2-01A-11D-A30X-08	7825303	85441793	60922229	15	13120											
RCL1	10171	broad.mit.edu	37	chr9	4834198	4834198	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtggttttctcatgtcctGtgaggaaggtcttgaagccc	8	13	12	8	0	2	2	1	2	2	0	4	3	3	3	2	3	1	1	2	3	3	3			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr9:4834198G>A	ENST00000381750.4	+	5	740	c.517G>A	c.(517-519)Gtg>Atg	p.V173M		NM_005772.3	NP_005763.3	Q9Y2P8	RCL1_HUMAN	RNA terminal phosphate cyclase-like 1	173					ribosome biogenesis|RNA processing	nucleolus	RNA-3'-phosphate cyclase activity			breast(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0206)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0244)		CTCATGTCCTGTGAGGAAGGT	0.463													17	18					0	0	1	0	0	A	4834198	G	A	4834198	3	1	250	1	0	0	0	0	1	0	0	0	13230	1377	48	2	535	2	RCL1	9	4834198	Missense_Mutation	SNP	G	TCGA-KK-A6E2-01A-11D-A30X-08		4834198	136379233	16	13121											
DHTKD1	55526	broad.mit.edu	37	chr10	12129647	12129647	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgaaaatgtcggcctacagCgggatcactgatgtcattat	11	11	10	9	2	2	2	2	2	0	0	3	3	2	3	1	2	2	0	1	2	4	2			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr10:12129647C>T	ENST00000263035.4	+	4	698	c.636C>T	c.(634-636)agC>agT	p.S212S	DHTKD1_ENST00000465617.1_3'UTR	NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	212					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			CGGCCTACAGCGGGATCACTG	0.517													16	27					0	0	1	0	0	T	12129647	C	T	12129647	2	4	250	1	0	0	0	0	0	0	0	1	4528	767	27	1		1	DHTKD1	10	12129647	Silent	SNP	C	TCGA-KK-A6E2-01A-11D-A30X-08		12129647	123405100	17	13122											
RBP3	5949	broad.mit.edu	37	chr10	48389662	48389662	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggccacccctggtgagtcttCggctgcagcgtcgggcgcgg	3	7	17	14	5	1	1	0	1	1	0	3	1	1	1	3	5	2	2	3	5	0	1			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr10:48389662C>T	ENST00000224600.4	-	1	1329	c.1216G>A	c.(1216-1218)Gaa>Aaa	p.E406K		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	406	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	p.E406K(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GGTGAGTCTTCGGCTGCAGCG	0.652													4	45					0	0	1	0	0	T	48389662	C	T	48389662	3	4	250	1	0	0	0	0	1	0	0	0	13209	893	31	1	2543	1	RBP3	10	48389662	Missense_Mutation	SNP	C	TCGA-KK-A6E2-01A-11D-A30X-08	36260015	48389662	87145085	18	13123											
PNLIP	5406	broad.mit.edu	37	chr10	118307881	118307881	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtctaaacaggaagttgccGcagattcatcaagcatcagt	13	10	9	9	1	4	1	3	0	1	1	4	2	4	2	1	1	3	3	1	1	4	3			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr10:118307881G>A	ENST00000369221.2	+	4	239	c.211G>A	c.(211-213)Gca>Aca	p.A71T	PNLIP_ENST00000470562.1_3'UTR	NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	71					lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	GGAAGTTGCCGCAGATTCATC	0.403													35	71					0	0	1	0	0	A	118307881	G	A	118307881	3	1	250	1	0	0	0	0	1	0	0	0	12197	1087	38	1	221	1	PNLIP	10	118307881	Missense_Mutation	SNP	G	TCGA-KK-A6E2-01A-11D-A30X-08	69918219	118307881	17226866	19	13124											
CPXM2	119587	broad.mit.edu	37	chr10	125506294	125506294	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagggtcacccacgctgtcGtctcttctgcccccgcagct	4	9	11	17	3	3	0	1	0	2	0	5	1	3	1	3	2	2	3	3	2	0	1			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr10:125506294G>A	ENST00000241305.3	-	14	2411	c.2257C>T	c.(2257-2259)Cga>Tga	p.R753*	CPXM2_ENST00000368854.3_Intron	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	753					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CCACGCTGTCGTCTCTTCTGC	0.577													7	73					0	0	1	0	0	A	125506294	G	A	125506294	4	1	250	1	0	0	0	0	0	1	0	0	3861	1153	40	1	17	1	CPXM2	10	125506294	Nonsense_Mutation	SNP	G	TCGA-KK-A6E2-01A-11D-A30X-08	7198413	125506294	10028453	20	13125											
MUC5B	727897	broad.mit.edu	37	chr11	1258365	1258365	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcagtgcagcatcctccacGgccccaccttcgccgcctgc	6	6	9	20	3	0	0	0	0	0	0	3	0	2	0	7	1	4	3	7	1	0	1			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr11:1258365G>A	ENST00000447027.1	+	25	3335	c.3277G>A	c.(3277-3279)Ggc>Agc	p.G1093S	MUC5B_ENST00000529681.1_Missense_Mutation_p.G1090S			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1090	VWFD 3.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CATCCTCCACGGCCCCACCTT	0.697													4	28					0	0	1	0	0	A	1258365	G	A	1258365	3	1	250	1	0	0	0	0	1	0	0	0	10027	1116	39	1	3375	1	MUC5B	11	1258365	Missense_Mutation	SNP	G	TCGA-KK-A6E2-01A-11D-A30X-08		1258365	133748151	21	13126											
DCHS1	8642	broad.mit.edu	37	chr11	6649894	6649894	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cccattggctcccacatctgGatcagaggcccgaagcatgg	9	7	11	14	1	2	1	1	0	1	1	3	3	3	2	3	4	1	2	3	4	1	1			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr11:6649894G>C	ENST00000299441.3	-	13	5740	c.5329C>G	c.(5329-5331)Cca>Gca	p.P1777A		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1777	Cadherin 17.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCACATCTGGATCAGAGGCC	0.567													23	42					0	0	1	0	0	C	6649894	G	C	6649894	3	2	250	1	0	0	0	0	1	0	0	0	4310	1174	41	4	4603	4	DCHS1	11	6649894	Missense_Mutation	SNP	G	TCGA-KK-A6E2-01A-11D-A30X-08	5391529	6649894	128356622	22	13127											
SHANK2	22941	broad.mit.edu	37	chr11	70319509	70319509	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggtgaccgtcgtgctcCgtgtacctgagatggtgctc	6	11	14	10	3	0	3	0	3	0	1	3	4	1	3	3	2	3	3	3	2	2	1			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr11:70319509C>T	ENST00000338508.4	-	33	5017	c.5018G>A	c.(5017-5019)cGg>cAg	p.R1673Q	SHANK2_ENST00000449833.2_Missense_Mutation_p.R1077Q|SHANK2_ENST00000409161.1_Missense_Mutation_p.R1076Q|SHANK2_ENST00000423696.2_Missense_Mutation_p.R1293Q			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1293					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CGTCGTGCTCCGTGTACCTGA	0.597													11	50					0	0	1	0	0	T	70319509	C	T	70319509	3	4	250	1	0	0	0	0	1	0	0	0	14320	652	23	1	538	1	SHANK2	11	70319509	Missense_Mutation	SNP	C	TCGA-KK-A6E2-01A-11D-A30X-08	63669615	70319509	64687007	23	13128											
PTPRO	5800	broad.mit.edu	37	chr12	15742420	15742420	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacggacaggaacattcattGccctggacaggctcttgcag	10	8	12	11	1	2	0	1	0	1	0	2	4	2	3	1	4	3	2	1	4	1	3			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr12:15742420G>A	ENST00000281171.4	+	25	3772	c.3442G>A	c.(3442-3444)Gcc>Acc	p.A1148T	PTPRO_ENST00000542557.1_Missense_Mutation_p.A309T|PTPRO_ENST00000442921.2_Missense_Mutation_p.A337T|PTPRO_ENST00000348962.2_Missense_Mutation_p.A1120T|PTPRO_ENST00000445537.2_Missense_Mutation_p.A337T|PTPRO_ENST00000544244.1_Missense_Mutation_p.A309T	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	1148	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				AACATTCATTGCCCTGGACAG	0.468													47	105					0	0	1	0	0	A	15742420	G	A	15742420	3	1	250	1	0	0	0	0	1	0	0	0	12861	1319	46	2	3540	2	PTPRO	12	15742420	Missense_Mutation	SNP	G	TCGA-KK-A6E2-01A-11D-A30X-08		15742420	118109475	24	13129											
PAN2	9924	broad.mit.edu	37	chr12	56722258	56722258	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agctgagaagccacttacagGtaatcaaatataatgaggcc	16	8	9	8	0	1	2	1	2	0	1	1	3	1	2	2	2	3	2	2	2	6	4			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr12:56722258G>A	ENST00000425394.2	-	3	826	c.450C>T	c.(448-450)taC>taT	p.Y150Y	PAN2_ENST00000440411.3_Silent_p.Y150Y|PAN2_ENST00000257931.5_Silent_p.Y150Y|PAN2_ENST00000548043.1_Silent_p.Y150Y	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	150					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CCACTTACAGGTAATCAAATA	0.502													4	155					0	0	1	0	0	A	56722258	G	A	56722258	2	1	250	1	0	0	0	0	0	0	0	1	11461	1256	44	2		2	PAN2	12	56722258	Silent	SNP	G	TCGA-KK-A6E2-01A-11D-A30X-08	40979838	56722258	77129637	25	13130											
NACA	4666	broad.mit.edu	37	chr12	57111547	57111547	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccctttggggggtggggtaGctgggcctccttttggggag	2	11	19	9	0	0	0	0	0	0	0	1	1	1	1	4	8	1	2	4	8	1	4			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr12:57111547G>C	ENST00000454682.1	-	3	4048	c.3767C>G	c.(3766-3768)gCt>gGt	p.A1256G	NACA_ENST00000550952.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GGGTGGGGTAGCTGGGCCTCC	0.657			T	BCL6	NHL								5	78					0	0	1	0	0	C	57111547	G	C	57111547	3	2	250	1	0	0	0	0	1	0	0	0	10181	971	34	4	2497	4	NACA	12	57111547	Missense_Mutation	SNP	G	TCGA-KK-A6E2-01A-11D-A30X-08	389289	57111547	76740348	26	13131											
CNOT2	4848	broad.mit.edu	37	chr12	70735908	70735908	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatctctaccccaaatttgcGtcaccctgggcatcttcacc	9	11	5	16	1	4	0	2	0	2	0	5	0	4	0	4	1	2	1	4	1	3	3			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr12:70735908G>T	ENST00000551483.1	+	3	4308	c.153G>T	c.(151-153)gcG>gcT	p.A51A	CNOT2_ENST00000229195.3_Silent_p.A400A|CNOT2_ENST00000418359.3_Silent_p.A400A			Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	400					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			CCAAATTTGCGTCACCCTGGG	0.338													4	102					1.23904e-05	1.34375e-05	1	1	0	T	70735908	G	T	70735908	2	4	250	1	0	0	0	0	0	0	0	1	3642	1132	40	4		4	CNOT2	12	70735908	Silent	SNP	G	TCGA-KK-A6E2-01A-11D-A30X-08	13624361	70735908	63115987	27	13132											
POLR3B	55703	broad.mit.edu	37	chr12	106838328	106838328	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctcaccataaccagtcaccGagaaacacttatcagtgtgc	13	8	6	14	1	3	1	3	0	0	1	3	2	3	1	4	0	3	0	4	0	3	2			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr12:106838328G>A	ENST00000228347.4	+	19	2265	c.2043G>A	c.(2041-2043)ccG>ccA	p.P681P	POLR3B_ENST00000539066.1_Silent_p.P623P	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	681					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						ACCAGTCACCGAGAAACACTT	0.443													13	29					0	0	1	0	0	A	106838328	G	A	106838328	2	1	250	1	0	0	0	0	0	0	0	1	12277	1045	37	1		1	POLR3B	12	106838328	Silent	SNP	G	TCGA-KK-A6E2-01A-11D-A30X-08	36102420	106838328	27013567	28	13133											
CENPJ	55835	broad.mit.edu	37	chr13	25466996	25466996	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgtaaatctgctatttgctGttttaaagtctctcaaaaaa	13	15	5	8	1	3	0	1	0	2	0	4	0	3	0	1	0	2	4	1	0	8	5			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr13:25466996G>T	ENST00000381884.4	-	10	3186	c.3001C>A	c.(3001-3003)Cag>Aag	p.Q1001K	CENPJ_ENST00000545981.1_Missense_Mutation_p.Q1001K	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	1001					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		GCTATTTGCTGTTTTAAAGTC	0.333													7	56					0.248553	0.248553	1	1	0	T	25466996	G	T	25466996	3	4	250	1	0	0	0	0	1	0	0	0	3256	1386	48	4	1047	4	CENPJ	13	25466996	Missense_Mutation	SNP	G	TCGA-KK-A6E2-01A-11D-A30X-08		25466996	89702882	29	13134											
RNASE7	84659	broad.mit.edu	37	chr14	21511516	21511516	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcatccgaactgcaggtacaAagagaagcgacagaacaagt	17	4	11	9	2	0	2	0	0	0	2	1	5	1	2	1	1	5	3	1	1	6	1			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr14:21511516A>G	ENST00000298690.4	+	2	622	c.365A>G	c.(364-366)aAa>aGa	p.K122R	NDRG2_ENST00000403829.3_Intron	NM_032572.3	NP_115961.2	Q9H1E1	RNAS7_HUMAN	ribonuclease, RNase A family, 7	122					defense response to bacterium|innate immune response	extracellular region	nucleic acid binding|pancreatic ribonuclease activity			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	6	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;3.42e-11)|Epithelial(56;5.57e-09)|all cancers(55;2.36e-08)	GBM - Glioblastoma multiforme(265;0.0191)		TGCAGGTACAAAGAGAAGCGA	0.532													15	134					0	0	1	0	0	G	21511516	A	G	21511516	3	3	250	1	0	0	0	0	1	0	0	0	13460	14	1	3	367	3	RNASE7	14	21511516	Missense_Mutation	SNP	A	TCGA-KK-A6E2-01A-11D-A30X-08		21511516	85838024	30	13135											
TMEM63C	57156	broad.mit.edu	37	chr14	77718143	77718143	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcggcaggttctctccacGccatcaccatcttttccctg	5	12	6	18	2	3	0	1	0	2	0	7	0	5	0	5	2	0	2	5	2	0	3			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr14:77718143G>A	ENST00000298351.4	+	22	2194	c.2050G>A	c.(2050-2052)Gcc>Acc	p.A684T		NM_020431.2	NP_065164.2	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	684						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		TTCTCTCCACGCCATCACCAT	0.567													29	90					0	0	1	0	0	A	77718143	G	A	77718143	3	1	250	1	0	0	0	0	1	0	0	0	16252	1087	38	1	2128	1	TMEM63C	14	77718143	Missense_Mutation	SNP	G	TCGA-KK-A6E2-01A-11D-A30X-08	56206627	77718143	29631397	31	13136											
OIP5	11339	broad.mit.edu	37	chr15	41624630	41624630	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagcggcgaggaccccttcaCcacctgcgtatcccactcca	8	6	9	18	3	1	0	1	0	0	0	3	3	3	1	6	2	2	1	6	2	1	2			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr15:41624630C>T	ENST00000220514.3	-	1	189	c.130G>A	c.(130-132)Gtg>Atg	p.V44M		NM_007280.1	NP_009211.1	O43482	MS18B_HUMAN	Opa interacting protein 5	44					cell communication|cell division|CenH3-containing nucleosome assembly at centromere|mitosis	Cajal body|chromatin|chromosome, centromeric region	protein binding			endometrium(3)|lung(1)|urinary_tract(1)	5		all_cancers(109;4.16e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;1.14e-09)|all_lung(180;2.56e-08)|Melanoma(134;0.091)|Colorectal(260;0.175)		OV - Ovarian serous cystadenocarcinoma(18;1.49e-16)|GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.163)		GACCCCTTCACCACCTGCGTA	0.672													5	142					0	0	1	0	0	T	41624630	C	T	41624630	3	4	250	1	0	0	0	0	1	0	0	0	10896	507	18	2	579	2	OIP5	15	41624630	Missense_Mutation	SNP	C	TCGA-KK-A6E2-01A-11D-A30X-08		41624630	60906762	32	13137											
PIGB	9488	broad.mit.edu	37	chr15	55631517	55631517	+	Splice_Site	DEL	G	G	-																															atcgtattttttttggccaaGtaagtaaaagtatattaagc																										TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr15:55631517delG	ENST00000164305.5	+	7	1137		c.e7+1		PIGB_ENST00000539642.1_Splice_Site	NM_004855.4	NP_004846.4	Q92521	PIGB_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class B						C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		TTTTGGCCAAGTAAGTAAAAG	0.284													2	4	---	---	---	---						-	55631517	G	-	55631517	8	5	250	1	0	1	0	1	0	0	1	0	11933	1043	36	0	873	0	PIGB	15	55631517	Splice_Site	DEL	G	TCGA-KK-A6E2-01A-11D-A30X-08	14006887	55631517	46899875	33	13138											
TCF12	6938	broad.mit.edu	37	chr15	57565238	57565238	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tattttctagcagtactaatGaagatgaggatttgaaccct	13	14	8	6	0	1	4	0	3	1	1	1	5	1	5	1	1	3	2	1	1	6	7			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr15:57565238G>A	ENST00000267811.5	+	18	1988	c.1684G>A	c.(1684-1686)Gaa>Aaa	p.E562K	TCF12_ENST00000333725.5_Missense_Mutation_p.E586K|TCF12_ENST00000557843.1_Missense_Mutation_p.E562K|TCF12_ENST00000543579.1_Missense_Mutation_p.E416K|TCF12_ENST00000343827.3_Missense_Mutation_p.E392K|TCF12_ENST00000537840.1_Missense_Mutation_p.E326K|TCF12_ENST00000438423.2_Missense_Mutation_p.E586K|TCF12_ENST00000452095.2_Missense_Mutation_p.E582K|TCF12_ENST00000559703.1_Missense_Mutation_p.E219K|TCF12_ENST00000559710.1_Missense_Mutation_p.E196K	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	562					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		CAGTACTAATGAAGATGAGGA	0.388			T	TEC	extraskeletal myxoid chondrosarcoma								8	18					0	0	1	0	0	A	57565238	G	A	57565238	3	1	250	1	0	0	0	0	1	0	0	0	15747	1291	45	2	1899	2	TCF12	15	57565238	Missense_Mutation	SNP	G	TCGA-KK-A6E2-01A-11D-A30X-08	1933721	57565238	44966154	34	13139											
HCN4	10021	broad.mit.edu	37	chr15	73660496	73660496	+	Frame_Shift_Del	DEL	C	C	-																															tgcggctggggtcttggcggCccccggccccctcctcctcg																										TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr15:73660496delC	ENST00000261917.3	-	1	1109	c.116delG	c.(115-117)gcfs	p.G39fs		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	39					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GTCTTGGCGGCCCCCGGCCCC	0.751													2	4	---	---	---	---						-	73660496	C	-	73660496	7	5	250	1	0	1	0	1	0	0	0	0	7040	739	26	0	3527	0	HCN4	15	73660496	Frame_Shift_Del	DEL	C	TCGA-KK-A6E2-01A-11D-A30X-08	16095258	73660496	28870896	35	13140											
TFAP4	7023	broad.mit.edu	37	chr16	4310115	4310115	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acgatggtgtccagattttgCcgggatgtggaaacagagtt	10	11	14	6	2	0	2	0	0	0	2	1	5	1	4	2	3	2	1	2	3	1	3			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr16:4310115C>T	ENST00000204517.6	-	6	1126	c.798G>A	c.(796-798)cgG>cgA	p.R266R		NM_003223.2	NP_003214.1	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer binding protein 4)	266					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						CCAGATTTTGCCGGGATGTGG	0.582													4	95					0	0	1	0	0	T	4310115	C	T	4310115	2	4	250	1	0	0	0	0	0	0	0	1	15852	726	26	2		2	TFAP4	16	4310115	Silent	SNP	C	TCGA-KK-A6E2-01A-11D-A30X-08		4310115	86044638	36	13141											
VWA3A	146177	broad.mit.edu	37	chr16	22132353	22132353	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaacccccaaagcatgacgCtcctctcaccattgagtttc	11	10	5	15	1	1	2	1	2	1	0	4	2	2	2	4	0	2	3	4	0	3	3			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr16:22132353C>A	ENST00000389398.5	+	13	1277	c.1181C>A	c.(1180-1182)gCt>gAt	p.A394D	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	394						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		AAGCATGACGCTCCTCTCACC	0.443													5	61					0.014758	0.0151515	1	1	0	A	22132353	C	A	22132353	3	1	250	1	0	0	0	0	1	0	0	0	17300	797	28	4	1231	4	VWA3A	16	22132353	Missense_Mutation	SNP	C	TCGA-KK-A6E2-01A-11D-A30X-08	17822238	22132353	68222400	37	13142											
CIAPIN1	57019	broad.mit.edu	37	chr16	57468061	57468061	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacaaacagcaggttgtcacTttcatgaccaaggtgttctc	12	11	8	10	0	3	1	2	1	1	0	4	1	3	1	1	2	3	3	1	2	3	3			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr16:57468061T>A	ENST00000394391.4	-	5	692	c.451A>T	c.(451-453)Agt>Tgt	p.S151C	CIAPIN1_ENST00000565961.1_Missense_Mutation_p.S124C|CIAPIN1_ENST00000568940.1_Missense_Mutation_p.S151C|CIAPIN1_ENST00000569370.1_Missense_Mutation_p.S151C|CIAPIN1_ENST00000567518.1_Missense_Mutation_p.S138C|CIAPIN1_ENST00000569246.1_5'UTR|CIAPIN1_ENST00000569979.1_Missense_Mutation_p.S151C	NM_020313.2	NP_064709.2	Q6FI81	CPIN1_HUMAN	cytokine induced apoptosis inhibitor 1	151					anti-apoptosis|apoptosis	cytoplasm|nucleolus				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						AGGTTGTCACTTTCATGACCA	0.463													16	96					0	0	1	0	0	A	57468061	T	A	57468061	3	1	250	1	0	0	0	0	1	0	0	0	3441	1609	56	5	507	5	CIAPIN1	16	57468061	Missense_Mutation	SNP	T	TCGA-KK-A6E2-01A-11D-A30X-08	35335708	57468061	32886692	38	13143											
C16orf80	29105	broad.mit.edu	37	chr16	58149203	58149203	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtctcgatgtaattggtGccgtatgctcgccgtgtgaa	7	12	14	8	4	1	1	0	1	1	0	3	2	1	1	2	2	2	3	2	2	3	3			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr16:58149203G>C	ENST00000262498.3	-	4	769	c.435C>G	c.(433-435)ggC>ggG	p.G145G	C16orf80_ENST00000562443.1_5'UTR	NM_013242.2	NP_037374.1	Q9Y6A4	CP080_HUMAN	chromosome 16 open reading frame 80	145					multicellular organismal development					kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						TGTAATTGGTGCCGTATGCTC	0.552													54	91					0	0	1	0	0	C	58149203	G	C	58149203	2	2	250	1	0	0	0	0	0	0	0	1	1844	1306	46	4		4	C16orf80	16	58149203	Silent	SNP	G	TCGA-KK-A6E2-01A-11D-A30X-08	681142	58149203	32205550	39	13144											
SLC38A7	55238	broad.mit.edu	37	chr16	58706128	58706128	+	Frame_Shift_Del	DEL	G	G	-																															ggatccacagcagctccaaaGgtcaggaagccacagatgcc																										TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr16:58706128delG	ENST00000570101.1	-	8	1786	c.903delC	c.(901-903)acfs	p.T301fs	SLC38A7_ENST00000219320.4_Frame_Shift_Del_p.T301fs|SLC38A7_ENST00000564100.1_Intron|SLC38A7_ENST00000566953.1_5'UTR|SLC38A7_ENST00000564010.1_Frame_Shift_Del_p.T212fs			Q9NVC3	S38A7_HUMAN	solute carrier family 38, member 7	301					amino acid transport|sodium ion transport	integral to membrane				endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						CAGCTCCAAAGGTCAGGAAGC	0.612													2	4	---	---	---	---						-	58706128	G	-	58706128	7	5	250	1	0	1	0	1	0	0	0	0	14664	987	35	0	501	0	SLC38A7	16	58706128	Frame_Shift_Del	DEL	G	TCGA-KK-A6E2-01A-11D-A30X-08	556925	58706128	31648625	40	13145											
HSF4	3299	broad.mit.edu	37	chr16	67199716	67199716	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacccgagcttcgtgcgcggCcgcgagcagctactggagcg	6	5	15	15	7	0	0	0	0	0	0	1	3	0	1	2	2	6	3	2	2	1	2			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr16:67199716C>G	ENST00000264009.8	+	5	1292	c.327C>G	c.(325-327)ggC>ggG	p.G109G	HSF4_ENST00000421453.1_Silent_p.G109G|RP11-5A19.5_ENST00000518753.1_3'UTR|HSF4_ENST00000521374.1_Silent_p.G109G|HSF4_ENST00000584272.1_Silent_p.G109G	NM_001040667.2	NP_001035757.1	Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4	109					response to stress	nucleus	sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.G109G(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		TCGTGCGCGGCCGCGAGCAGC	0.692													6	40					0	0	1	0	0	G	67199716	C	G	67199716	2	3	250	1	0	0	0	0	0	0	0	1	7439	726	26	4		4	HSF4	16	67199716	Silent	SNP	C	TCGA-KK-A6E2-01A-11D-A30X-08	8493588	67199716	23155037	41	13146											
MYH10	4628	broad.mit.edu	37	chr17	8526221	8526221	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atttggaagaaatacttacaTagattagtcctgaatagtag	16	13	8	4	0	0	3	0	1	0	2	1	4	1	4	1	1	2	1	1	1	9	7			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr17:8526221T>G	ENST00000360416.3	-	2	482	c.345_splice	c.e2+1	p.Y115_splice	MYH10_ENST00000379980.4_Splice_Site_p.Y115_splice|MYH10_ENST00000269243.4_Splice_Site_p.Y115_splice|MYH10_ENST00000396239.1_Splice_Site_p.Y115_splice	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	115	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						AATACTTACATAGATTAGTCC	0.348													12	24					0	0	1	0	0	G	8526221	T	G	8526221	5	3	250	1	0	0	0	0	0	0	1	0	10078	1420	49	5	5746	5	MYH10	17	8526221	Splice_Site	SNP	T	TCGA-KK-A6E2-01A-11D-A30X-08		8526221	72668989	42	13147											
KSR1	8844	broad.mit.edu	37	chr17	25950427	25950427	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaaagatgtagccagccatAtggtttttcgctgctgatct	9	13	9	10	1	1	2	0	1	1	1	2	2	1	2	3	1	3	4	3	1	3	4			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr17:25950427A>G	ENST00000578981.1	+	2	327	c.149A>G	c.(148-150)tAt>tGt	p.Y50C	KSR1_ENST00000582410.1_3'UTR|KSR1_ENST00000319524.6_3'UTR|KSR1_ENST00000398988.3_3'UTR|AC015688.3_ENST00000584605.1_Missense_Mutation_p.Y13C			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	0					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		AGCCAGCCATATGGTTTTTCG	0.463													5	16					0	0	1	0	0	G	25950427	A	G	25950427	3	3	250	1	0	0	0	0	1	0	0	0	8620	464	16	3		3	KSR1	17	25950427	Missense_Mutation	SNP	A	TCGA-KK-A6E2-01A-11D-A30X-08	17424206	25950427	55244783	43	13148											
UNK	85451	broad.mit.edu	37	chr17	73780852	73780852	+	Frame_Shift_Del	DEL	G	G	-																															agcaacccctgctgccgtgtGgggggtcttcacgttctcgt																										TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr17:73780852delG	ENST00000293218.3	+	2	119	c.119delG	c.(118-120)tgfs	p.W40fs	H3F3B_ENST00000586607.1_Intron|UNK_ENST00000589666.1_5'UTR			Q9C0B0	UNK_HUMAN	unkempt family zinc finger	0							nucleic acid binding|zinc ion binding			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCTGCCGTGTGGGGGGTCTTC	0.617													7	28	---	---	---	---						-	73780852	G	-	73780852	7	5	250	1	0	1	0	1	0	0	0	0	17060	1357	47	0	125	0	UNK	17	73780852	Frame_Shift_Del	DEL	G	TCGA-KK-A6E2-01A-11D-A30X-08	47830425	73780852	7414358	44	13149											
DNAH17	8632	broad.mit.edu	37	chr17	76496390	76496390	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaccccggccgcgtaccttGtagtccatctgctcggagca	6	8	12	15	4	1	0	0	0	1	0	3	2	2	2	5	3	3	4	5	3	2	3			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr17:76496390G>T	ENST00000389840.5	-	36	5719	c.5595C>A	c.(5593-5595)taC>taA	p.Y1865*	DNAH17-AS1_ENST00000598378.1_Missense_Mutation_p.V108L|DNAH17_ENST00000585328.1_Nonsense_Mutation_p.Y1874*					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CGCGTACCTTGTAGTCCATCT	0.612													4	19					0.00909568	0.00946442	1	1	0	T	76496390	G	T	76496390	4	4	250	1	0	0	0	0	0	1	0	0	4629	1372	48	4	7935	4	DNAH17	17	76496390	Nonsense_Mutation	SNP	G	TCGA-KK-A6E2-01A-11D-A30X-08	2715538	76496390	4698820	45	13150											
ACAA2	10449	broad.mit.edu	37	chr18	47311571	47311571	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatttctagcaaataccttaAttcgtgaaccaggtgtgcag	12	13	8	8	1	1	1	0	1	1	0	2	1	1	1	2	1	4	2	2	1	6	6			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr18:47311571A>C	ENST00000285093.10	-	9	1580	c.1105T>G	c.(1105-1107)Tta>Gta	p.L369V	ACAA2_ENST00000587994.1_Missense_Mutation_p.L366V|ACAA2_ENST00000589432.1_Missense_Mutation_p.L314V	NM_006111.2	NP_006102.2	P42765	THIM_HUMAN	acetyl-CoA acyltransferase 2	369					anti-apoptosis|cholesterol biosynthetic process		acetyl-CoA C-acyltransferase activity|protein binding			large_intestine(2)|lung(7)|ovary(1)	10						AAATACCTTAATTCGTGAACC	0.398													4	65					0	0	1	0	0	C	47311571	A	C	47311571	3	2	250	1	0	0	0	0	1	0	0	0	105	98	4	5	96	5	ACAA2	18	47311571	Missense_Mutation	SNP	A	TCGA-KK-A6E2-01A-11D-A30X-08		47311571	30765677	46	13151											
MUC16	94025	broad.mit.edu	37	chr19	9064272	9064272	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agatatctgtggttgtcgccGggccagaggtgagaagtgaa	10	9	16	6	2	1	4	0	2	1	3	2	5	1	4	2	3	0	1	2	3	3	2			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr19:9064272G>A	ENST00000397910.4	-	3	23377	c.23174C>T	c.(23173-23175)cCg>cTg	p.P7725L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7727	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTTGTCGCCGGGCCAGAGGT	0.517													4	63					0	0	1	0	0	A	9064272	G	A	9064272	3	1	250	1	0	0	0	0	1	0	0	0	10021	1116	39	1	20677	1	MUC16	19	9064272	Missense_Mutation	SNP	G	TCGA-KK-A6E2-01A-11D-A30X-08		9064272	50064711	47	13152											
CYP4F22	126410	broad.mit.edu	37	chr19	15662136	15662136	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagagcttcgccatggccGagttgcgcgtggttgtggca	6	9	16	10	4	0	1	0	0	0	1	1	3	0	1	2	3	2	4	2	3	0	3			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr19:15662136G>T	ENST00000269703.2	+	14	1649	c.1450G>T	c.(1450-1452)Gag>Tag	p.E484*	CYP4F22_ENST00000601005.2_Nonsense_Mutation_p.E484*	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	484						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						CGCCATGGCCGAGTTGCGCGT	0.637													14	15					1.3612e-06	1.49732e-06	1	1	0	T	15662136	G	T	15662136	4	4	250	1	0	0	0	0	0	1	0	0	4212	1059	37	4	1496	4	CYP4F22	19	15662136	Nonsense_Mutation	SNP	G	TCGA-KK-A6E2-01A-11D-A30X-08	6597864	15662136	43466847	48	13153											
CYP4F12	66002	broad.mit.edu	37	chr19	15794476	15794476	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agacgctgtcatccgggagcGgcgtcgcaccctccccactc	6	6	11	18	5	1	1	1	0	0	1	5	2	3	2	4	2	1	2	4	2	0	0			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr19:15794476G>A	ENST00000550308.1	+	7	1201	c.821G>A	c.(820-822)cGg>cAg	p.R274Q	CYP4F12_ENST00000324632.9_Missense_Mutation_p.R274Q	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					ATCCGGGAGCGGCGTCGCACC	0.537													33	99					0	0	1	0	0	A	15794476	G	A	15794476	3	1	250	1	0	0	0	0	1	0	0	0	4210	1116	39	1	843	1	CYP4F12	19	15794476	Missense_Mutation	SNP	G	TCGA-KK-A6E2-01A-11D-A30X-08	132340	15794476	43334507	49	13154											
ARHGEF1	0	broad.mit.edu	37	chr19	42392871	42392871	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagcctggagcaggtgaagCggcgcccagcccacctcatg	9	4	14	14	2	1	2	1	1	0	1	1	3	1	3	4	3	4	1	4	3	1	0			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr19:42392871C>T	ENST00000599846.1	+	4	285	c.160C>T	c.(160-162)Cgg>Tgg	p.R54W	ARHGEF1_ENST00000347545.4_Missense_Mutation_p.R54W|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.R69W|ARHGEF1_ENST00000354532.3_Missense_Mutation_p.R54W|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.R69W|ARHGEF1_ENST00000596957.1_Intron			Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	54	RGSL.				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		GCAGGTGAAGCGGCGCCCAGC	0.647													25	36					0	0	1	0	0	T	42392871	C	T	42392871	3	4	250	1	0	0	0	0	1	0	0	0	890	759	27	1	219	1	ARHGEF1	19	42392871	Missense_Mutation	SNP	C	TCGA-KK-A6E2-01A-11D-A30X-08	26598395	42392871	16736112	50	13155											
BCAT2	587	broad.mit.edu	37	chr19	49299745	49299745	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaggcccattttccatggtGggaatgtggaggttctggga	7	12	15	7	0	2	0	1	0	1	0	3	3	3	3	2	6	0	1	2	6	1	3			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr19:49299745G>A	ENST00000402551.1	-	11	1580	c.960C>T	c.(958-960)ccC>ccT	p.P320P	BCAT2_ENST00000599246.1_Silent_p.P268P|BCAT2_ENST00000597011.1_Silent_p.P320P|BCAT2_ENST00000545387.2_Silent_p.P268P|BCAT2_ENST00000598162.1_Silent_p.P360P|BCAT2_ENST00000316273.6_Silent_p.P360P			O15382	BCAT2_HUMAN	branched chain amino-acid transaminase 2, mitochondrial	360						mitochondrial matrix	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114)	TTTCCATGGTGGGAATGTGGA	0.607													33	78					0	0	1	0	0	A	49299745	G	A	49299745	2	1	250	1	0	0	0	0	0	0	0	1	1353	1335	47	2		2	BCAT2	19	49299745	Silent	SNP	G	TCGA-KK-A6E2-01A-11D-A30X-08	6906874	49299745	9829238	51	13156											
TULP2	7288	broad.mit.edu	37	chr19	49387100	49387100	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccccaggtatcctaagaCgttgggctcctgggggtatt	7	10	14	10	1	0	1	0	0	0	1	2	1	2	1	4	5	0	4	4	5	3	5			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr19:49387100C>T	ENST00000221399.3	-	11	1330	c.1186G>A	c.(1186-1188)Gtc>Atc	p.V396I		NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN	tubby like protein 2	396					visual perception	cytoplasm|extracellular region				NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		TATCCTAAGACGTTGGGCTCC	0.517													9	42					0	0	1	0	0	T	49387100	C	T	49387100	3	4	250	1	0	0	0	0	1	0	0	0	16836	536	19	1	388	1	TULP2	19	49387100	Missense_Mutation	SNP	C	TCGA-KK-A6E2-01A-11D-A30X-08	87355	49387100	9741883	52	13157											
KLK13	26085	broad.mit.edu	37	chr19	51563757	51563757	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactcccccacagagtagccGcccttgcactagtagggcag	9	6	11	15	1	0	1	0	0	0	1	1	2	1	1	4	1	2	4	4	1	3	4			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr19:51563757G>A	ENST00000595793.1	-	2	214	c.172C>T	c.(172-174)Cgg>Tgg	p.R58W	KLK13_ENST00000595547.1_Missense_Mutation_p.R58W|KLK13_ENST00000596955.1_Missense_Mutation_p.R58W|KLK13_ENST00000335422.3_Intron	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	58	Peptidase S1.				proteolysis		protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		CAGAGTAGCCGCCCTTGCACT	0.617													25	80					0	0	1	0	0	A	51563757	G	A	51563757	3	1	250	1	0	0	0	0	1	0	0	0	8444	1086	38	1	677	1	KLK13	19	51563757	Missense_Mutation	SNP	G	TCGA-KK-A6E2-01A-11D-A30X-08	2176657	51563757	7565226	53	13158											
SF3A1	10291	broad.mit.edu	37	chr22	30735202	30735202	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accgaagatgtcagtacgccGctcagccaactgcttcaagc	11	7	9	14	3	3	1	3	0	0	1	3	2	3	1	3	0	5	3	3	0	4	2			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chr22:30735202G>A	ENST00000439242.1	-	10	1350	c.1219C>T	c.(1219-1221)Cgg>Tgg	p.R407W	SF3A1_ENST00000215793.7_Missense_Mutation_p.R472W	NM_001005409.1	NP_001005409.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	472					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						TCAGTACGCCGCTCAGCCAAC	0.483													67	91					0	0	1	0	0	A	30735202	G	A	30735202	3	1	250	1	0	0	0	0	1	0	0	0	14200	1086	38	1	995	1	SF3A1	22	30735202	Missense_Mutation	SNP	G	TCGA-KK-A6E2-01A-11D-A30X-08		30735202	20569364	54	13159											
ZMYM3	9203	broad.mit.edu	37	chrX	70465273	70465273	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catggccaggacatcatctcGagcaggcccaaacaggtcac	12	5	10	14	1	3	0	2	0	1	0	4	2	3	1	2	4	2	1	2	4	1	0			TCGA-KK-A6E2-01A-11D-A30X-08	TCGA-KK-A6E2-11A-21D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2a74cb-41dc-42b1-831b-160074fee3b9	f6ecbcaa-aa62-4d04-afab-2d9e24ff0bbb	g.chrX:70465273G>A	ENST00000373998.1	-	18	3584	c.2887C>T	c.(2887-2889)Cga>Tga	p.R963*	ZMYM3_ENST00000314425.5_Nonsense_Mutation_p.R975*|ZMYM3_ENST00000373988.1_Nonsense_Mutation_p.R977*|ZMYM3_ENST00000373984.3_Nonsense_Mutation_p.R977*|ZMYM3_ENST00000353904.2_Nonsense_Mutation_p.R975*|ZMYM3_ENST00000489332.1_5'UTR	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	975					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					ACATCATCTCGAGCAGGCCCA	0.532													10	9					0	0	1	0	0	A	70465273	G	A	70465273	4	1	250	1	0	0	0	0	0	1	0	0	17759	1066	37	1	1221	1	ZMYM3	23	70465273	Nonsense_Mutation	SNP	G	TCGA-KK-A6E2-01A-11D-A30X-08		70465273	84805287	55	13160											
RAB13	5872	broad.mit.edu	37	chr1	153958656	153958656	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatcagacaagtcttgccCacccccgagtccccgatcag	10	7	8	16	2	3	2	2	1	1	1	4	4	4	2	5	0	1	0	5	0	1	1			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr1:153958656C>T	ENST00000368575.3	-	1	172	c.57G>A	c.(55-57)gtG>gtA	p.V19V	RAB13_ENST00000462680.1_5'UTR	NM_002870.2	NP_002861.1	P51153	RAB13_HUMAN	RAB13, member RAS oncogene family	19					cell adhesion|protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	cytoplasmic vesicle membrane|tight junction	GTP binding|GTPase activity			breast(1)|endometrium(3)|kidney(1)|lung(5)|urinary_tract(1)	11	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AAGTCTTGCCCACCCCCGAGT	0.627													8	26					0	0	1	0	0	T	153958656	C	T	153958656	2	4	251	1	0	0	0	0	0	0	0	1	12951	581	21	2		2	RAB13	1	153958656	Silent	SNP	C	TCGA-KK-A6E3-01A-21D-A30E-08		153958656	95291965	1	13161											
HMCN1	83872	broad.mit.edu	37	chr1	185939492	185939492	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgagttgaggccctcaacAttcctcattattgaccctct	8	14	6	13	0	3	3	2	3	1	0	4	3	4	3	3	1	1	1	3	1	2	5			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr1:185939492A>T	ENST00000271588.4	+	15	2467	c.2238A>T	c.(2236-2238)acA>acT	p.T746T	HMCN1_ENST00000367492.2_Silent_p.T746T|HMCN1_ENST00000485744.1_3'UTR	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	746	Ig-like C2-type 4.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GGCCCTCAACATTCCTCATTA	0.383													7	177					0	0	1	0	0	T	185939492	A	T	185939492	2	4	251	1	0	0	0	0	0	0	0	1	7261	204	8	5		5	HMCN1	1	185939492	Silent	SNP	A	TCGA-KK-A6E3-01A-21D-A30E-08	31980836	185939492	63311129	2	13162											
CR1L	1379	broad.mit.edu	37	chr1	207818584	207818584	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcccgcgccgctcatggcGcctcccgtccgtctcgagcg	2	8	11	20	8	3	0	1	0	2	0	7	1	5	0	5	1	1	1	5	1	0	0			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr1:207818584G>T	ENST00000508064.2	+	1	66	c.6G>T	c.(4-6)gcG>gcT	p.A2A		NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	2						cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CGCTCATGGCGCCTCCCGTCC	0.637													5	88					0.000602214	0.000638712	1	1	0	T	207818584	G	T	207818584	2	4	251	1	0	0	0	0	0	0	0	1	3864	1074	38	4		4	CR1L	1	207818584	Silent	SNP	G	TCGA-KK-A6E3-01A-21D-A30E-08	21879092	207818584	41432037	3	13163											
LRP1B	53353	broad.mit.edu	37	chr2	141607757	141607757	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatctgtccagtataaacgtTcctcagatgcatcgaagtct	11	13	7	10	2	3	1	1	0	2	1	6	2	5	1	2	0	2	3	2	0	5	4			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr2:141607757T>A	ENST00000389484.3	-	29	5824	c.4853A>T	c.(4852-4854)gAa>gTa	p.E1618V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1618					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTATAAACGTTCCTCAGATGC	0.363										TSP Lung(27;0.18)			7	65					0	0	1	0	0	A	141607757	T	A	141607757	3	1	251	1	0	0	0	0	1	0	0	0	9000	1783	62	5	9198	5	LRP1B	2	141607757	Missense_Mutation	SNP	T	TCGA-KK-A6E3-01A-21D-A30E-08		141607757	101591616	4	13164											
COL6A3	1293	broad.mit.edu	37	chr2	238274427	238274427	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacgtaggggtgctggctgcGcatgttccggaacttctcga	6	10	15	10	4	1	0	0	0	1	0	3	3	2	1	1	4	3	5	1	4	2	3			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr2:238274427G>A	ENST00000295550.4	-	12	6204	c.5752C>T	c.(5752-5754)Cgc>Tgc	p.R1918C	COL6A3_ENST00000346358.4_Missense_Mutation_p.R1718C|COL6A3_ENST00000472056.1_Missense_Mutation_p.R1311C|COL6A3_ENST00000353578.4_Missense_Mutation_p.R1712C|COL6A3_ENST00000347401.3_Missense_Mutation_p.R1717C|COL6A3_ENST00000409809.1_Missense_Mutation_p.R1712C	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1918	Nonhelical region.|VWFA 10.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TGCTGGCTGCGCATGTTCCGG	0.617													6	112					0	0	1	0	0	A	238274427	G	A	238274427	3	1	251	1	0	0	0	0	1	0	0	0	3724	1087	38	1	3913	1	COL6A3	2	238274427	Missense_Mutation	SNP	G	TCGA-KK-A6E3-01A-21D-A30E-08	96666670	238274427	4924946	5	13165											
SCN5A	6331	broad.mit.edu	37	chr3	38592968	38592968	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcggatcagtctgaggatgCggcctattcgggccaggcgg	6	8	16	11	4	2	1	1	1	1	0	4	3	2	3	2	6	1	0	2	6	1	2			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr3:38592968C>T	ENST00000413689.1	-	28	5088	c.4895G>A	c.(4894-4896)cGc>cAc	p.R1632H	SCN5A_ENST00000451551.2_Missense_Mutation_p.R1578H|SCN5A_ENST00000455624.2_Missense_Mutation_p.R1599H|SCN5A_ENST00000450102.2_Missense_Mutation_p.R1578H|SCN5A_ENST00000449557.2_Missense_Mutation_p.R1578H|SCN5A_ENST00000443581.1_Missense_Mutation_p.R1631H|SCN5A_ENST00000425664.1_Missense_Mutation_p.R1614H|SCN5A_ENST00000423572.2_Missense_Mutation_p.R1631H|SCN5A_ENST00000414099.2_Missense_Mutation_p.R1614H|SCN5A_ENST00000333535.4_Missense_Mutation_p.R1632H	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1632					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TCTGAGGATGCGGCCTATTCG	0.592													4	159					0	0	1	0	0	T	38592968	C	T	38592968	3	4	251	1	0	0	0	0	1	0	0	0	13976	768	27	1	1159	1	SCN5A	3	38592968	Missense_Mutation	SNP	C	TCGA-KK-A6E3-01A-21D-A30E-08		38592968	159429462	6	13166											
POLQ	10721	broad.mit.edu	37	chr3	121192246	121192246	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttagcttgcgtccattgtcaAtccctcttctggtagaaccc	7	14	7	13	1	3	1	1	0	2	1	5	1	5	1	3	1	3	2	3	1	4	5			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr3:121192246A>T	ENST00000264233.5	-	21	6622	c.6494T>A	c.(6493-6495)aTt>aAt	p.I2165N		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2165					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TCCATTGTCAATCCCTCTTCT	0.443								DNA polymerases (catalytic subunits)					20	231					0	0	1	0	0	T	121192246	A	T	121192246	3	4	251	1	0	0	0	0	1	0	0	0	12256	101	4	5	1318	5	POLQ	3	121192246	Missense_Mutation	SNP	A	TCGA-KK-A6E3-01A-21D-A30E-08	82599278	121192246	76830184	7	13167											
POLQ	10721	broad.mit.edu	37	chr3	121206355	121206355	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actgtaatccatcctgtgatAactgaagtgaaaagcttgtg	13	12	9	7	0	0	3	0	3	0	0	2	3	2	3	2	0	2	2	2	0	5	3			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr3:121206355A>G	ENST00000264233.5	-	16	5551	c.5423T>C	c.(5422-5424)tTa>tCa	p.L1808S		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1808					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		ATCCTGTGATAACTGAAGTGA	0.388								DNA polymerases (catalytic subunits)					8	106					0	0	1	0	0	G	121206355	A	G	121206355	3	3	251	1	0	0	0	0	1	0	0	0	12256	372	13	3	2409	3	POLQ	3	121206355	Missense_Mutation	SNP	A	TCGA-KK-A6E3-01A-21D-A30E-08	14109	121206355	76816075	8	13168											
PLSCR5	389158	broad.mit.edu	37	chr3	146311885	146311885	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaattctttgtcccaagctgTttttaatctcatatttgttg	9	20	5	7	0	2	0	1	0	2	0	4	0	3	0	1	0	1	3	1	0	4	8			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr3:146311885T>C	ENST00000443512.1	-	4	1278	c.275A>G	c.(274-276)aAc>aGc	p.N92S	PLSCR5_ENST00000492200.1_Missense_Mutation_p.N92S|PLSCR5_ENST00000482567.1_Missense_Mutation_p.N80S	NM_001085420.1	NP_001078889.1	A0PG75	PLS5_HUMAN	phospholipid scramblase family, member 5	92										endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						TCCCAAGCTGTTTTTAATCTC	0.348													25	117					0	0	1	0	0	C	146311885	T	C	146311885	3	2	251	1	0	0	0	0	1	0	0	0	12161	1725	60	3	556	3	PLSCR5	3	146311885	Missense_Mutation	SNP	T	TCGA-KK-A6E3-01A-21D-A30E-08	25105530	146311885	51710545	9	13169											
KIAA1211	57482	broad.mit.edu	37	chr4	57181784	57181784	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggggccggtgtgattccCgcgggaaccaacggaagact	9	5	15	12	4	0	2	0	1	0	1	1	4	1	4	4	5	2	0	4	5	3	1			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr4:57181784C>T	ENST00000504228.1	+	6	2221	c.2116C>T	c.(2116-2118)Cgc>Tgc	p.R706C	KIAA1211_ENST00000264229.6_Missense_Mutation_p.R706C|KIAA1211_ENST00000541073.1_Missense_Mutation_p.R699C			Q6ZU35	K1211_HUMAN	KIAA1211	706										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GTGTGATTCCCGCGGGAACCA	0.582													20	146					0	0	1	0	0	T	57181784	C	T	57181784	3	4	251	1	0	0	0	0	1	0	0	0	8257	652	23	1	2134	1	KIAA1211	4	57181784	Missense_Mutation	SNP	C	TCGA-KK-A6E3-01A-21D-A30E-08		57181784	133972492	10	13170											
GNRHR	0	broad.mit.edu	37	chr4	68619905	68619905	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaaagaagcattaaaggtcGcagagagcagaaaaaggaag	21	3	13	4	1	0	4	0	0	0	4	1	6	0	5	0	2	2	3	0	2	7	1	rs150422225		TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr4:68619905G>A	ENST00000226413.4	-	1	173	c.149C>T	c.(148-150)gCg>gTg	p.A50V	RP11-453E17.1_ENST00000500538.2_RNA|RP11-453E17.1_ENST00000502758.1_RNA|GNRHR_ENST00000420975.2_Missense_Mutation_p.A50V	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor	50					multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)	ATTAAAGGTCGCAGAGAGCAG	0.443													28	106					0	0	1	0	0	A	68619905	G	A	68619905	3	1	251	1	0	0	0	0	1	0	0	0	6591	1087	38	1	849	1	GNRHR	4	68619905	Missense_Mutation	SNP	G	TCGA-KK-A6E3-01A-21D-A30E-08	11438121	68619905	122534371	11	13171											
TMEM184C	55751	broad.mit.edu	37	chr4	148555575	148555575	+	Frame_Shift_Del	DEL	T	T	-																															agaaccttcagataaatccgTggattcctgaacagtatgga																										TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr4:148555575delT	ENST00000296582.3	+	10	1881	c.1307delT	c.(1306-1308)ggfs	p.V436fs	TMEM184C_ENST00000508208.1_Intron	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	436						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						GATAAATCCGTGGATTCCTGA	0.398													9	76	---	---	---	---						-	148555575	T	-	148555575	7	5	251	1	0	1	0	1	0	0	0	0	16166	1696	59	0	1345	0	TMEM184C	4	148555575	Frame_Shift_Del	DEL	T	TCGA-KK-A6E3-01A-21D-A30E-08	79935670	148555575	42598701	12	13172											
FAM198B	51313	broad.mit.edu	37	chr4	159092350	159092350	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agccgcctgtccatgctggaGagaggccctccccacctggc	6	6	12	17	1	0	1	0	0	0	1	2	3	2	2	7	3	2	1	7	3	0	0			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr4:159092350G>A	ENST00000296530.8	-	2	799	c.178C>T	c.(178-180)Ctc>Ttc	p.L60F	FAM198B_ENST00000592057.1_Missense_Mutation_p.L60F|RP11-597D13.9_ENST00000503611.1_RNA|FAM198B_ENST00000393807.5_Missense_Mutation_p.L60F|FAM198B_ENST00000589306.1_Intron|FAM198B_ENST00000585682.1_Missense_Mutation_p.L60F	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	60						Golgi membrane|integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						CCATGCTGGAGAGAGGCCCTC	0.662													6	101					0	0	1	0	0	A	159092350	G	A	159092350	3	1	251	1	0	0	0	0	1	0	0	0	5561	942	33	2	1502	2	FAM198B	4	159092350	Missense_Mutation	SNP	G	TCGA-KK-A6E3-01A-21D-A30E-08	10536775	159092350	32061926	13	13173											
SLC12A7	10723	broad.mit.edu	37	chr5	1065403	1065403	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccagccatgcctacccacaAagttcttccaggagaagggg	11	6	11	13	0	1	1	0	0	1	1	2	2	2	1	5	3	3	1	5	3	3	3			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr5:1065403A>G	ENST00000264930.5	-	18	2475	c.2432T>C	c.(2431-2433)tTt>tCt	p.F811S		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	811					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	CCTACCCACAAAGTTCTTCCA	0.642													5	94					0	0	1	0	0	G	1065403	A	G	1065403	3	3	251	1	0	0	0	0	1	0	0	0	14443	14	1	3	847	3	SLC12A7	5	1065403	Missense_Mutation	SNP	A	TCGA-KK-A6E3-01A-21D-A30E-08		1065403	179849857	14	13174											
CDC20B	166979	broad.mit.edu	37	chr5	54420671	54420671	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttatgactttcagcggttggCcctgtgcactggcacctgga	6	12	12	11	1	1	1	1	1	0	0	1	2	1	2	2	4	2	3	2	4	1	3			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr5:54420671C>T	ENST00000296733.1	-	9	1349	c.1175G>A	c.(1174-1176)gGc>gAc	p.G392D	CDC20B_ENST00000322374.6_Missense_Mutation_p.G392D|CDC20B_ENST00000381375.2_Missense_Mutation_p.G392D|CDC20B_ENST00000334206.5_3'UTR	NM_001170402.1|NM_152623.2	NP_001163873.1|NP_689836.2	Q86Y33	CD20B_HUMAN	cell division cycle 20B	392										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			CAGCGGTTGGCCCTGTGCACT	0.537													4	84					0	0	1	0	0	T	54420671	C	T	54420671	3	4	251	1	0	0	0	0	1	0	0	0	3082	739	26	2	400	2	CDC20B	5	54420671	Missense_Mutation	SNP	C	TCGA-KK-A6E3-01A-21D-A30E-08	53355268	54420671	126494589	15	13175											
P4HA2	8974	broad.mit.edu	37	chr5	131544974	131544974	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttttctctctcttcctccaAtaactgctcaaagtaccgca	9	15	3	14	1	3	0	1	0	2	0	7	0	5	0	3	0	3	3	3	0	4	5	rs148453847	by1000genomes	TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr5:131544974A>G	ENST00000401867.1	-	8	1328	c.760T>C	c.(760-762)Ttg>Ctg	p.L254L	P4HA2_ENST00000379100.2_Silent_p.L254L|P4HA2_ENST00000379104.2_Silent_p.L254L|P4HA2_ENST00000360568.3_Silent_p.L254L|P4HA2_ENST00000379086.1_Silent_p.L254L|P4HA2_ENST00000166534.4_Silent_p.L254L			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	254						endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	TCTTCCTCCAATAACTGCTCA	0.468													7	231					0	0	1	0	0	G	131544974	A	G	131544974	2	3	251	1	0	0	0	0	0	0	0	1	11404	98	4	3		3	P4HA2	5	131544974	Silent	SNP	A	TCGA-KK-A6E3-01A-21D-A30E-08	77124303	131544974	49370286	16	13176											
HIST1H3G	8355	broad.mit.edu	37	chr6	26271485	26271485	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagagccacggtgccgggaCggtagcgatgaggtttcttc	7	8	16	10	4	1	2	0	1	1	1	2	4	1	3	2	4	3	3	2	4	1	3			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr6:26271485C>A	ENST00000305910.3	-	1	127	c.128G>T	c.(127-129)cGt>cTt	p.R43L		NM_003534.2	NP_003525.1	P68431	H31_HUMAN	histone cluster 1, H3g	43					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						GGTGCCGGGACGGTAGCGATG	0.637													6	106					0.0215528	0.0221867	1	1	0	A	26271485	C	A	26271485	3	1	251	1	0	0	0	0	1	0	0	0	7202	536	19	4	286	4	HIST1H3G	6	26271485	Missense_Mutation	SNP	C	TCGA-KK-A6E3-01A-21D-A30E-08		26271485	144843582	17	13177											
MCHR2	84539	broad.mit.edu	37	chr6	100390958	100390958	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaggcccaaattgatccGgatggtcttgtaccttgttc	9	12	9	11	1	1	1	0	1	1	0	3	2	2	2	4	3	1	2	4	3	3	5			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr6:100390958G>A	ENST00000281806.2	-	4	768	c.454C>T	c.(454-456)Cgg>Tgg	p.R152W	MCHR2_ENST00000369212.1_Missense_Mutation_p.R152W|MCHR2_ENST00000445970.1_Missense_Mutation_p.R152W	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	152			R -> Q (no changes in receptor binding or functional signaling).			integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		AAATTGATCCGGATGGTCTTG	0.473													9	133					0	0	1	0	0	A	100390958	G	A	100390958	3	1	251	1	0	0	0	0	1	0	0	0	9433	1115	39	1	580	1	MCHR2	6	100390958	Missense_Mutation	SNP	G	TCGA-KK-A6E3-01A-21D-A30E-08	74119473	100390958	70724109	18	13178											
ITGB8	3696	broad.mit.edu	37	chr7	20444317	20444317	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaggtgatcgatgccagtGcccttcagcagcagcccagc	9	6	13	13	1	1	1	1	1	0	0	2	3	1	2	3	2	6	2	3	2	1	1			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr7:20444317G>A	ENST00000222573.3	+	11	2438	c.1754G>A	c.(1753-1755)tGc>tAc	p.C585Y	ITGB8_ENST00000537992.1_Missense_Mutation_p.C450Y	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	585	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						CGATGCCAGTGCCCTTCAGCA	0.562													5	47					0	0	1	0	0	A	20444317	G	A	20444317	3	1	251	1	0	0	0	0	1	0	0	0	7945	1319	46	2	1796	2	ITGB8	7	20444317	Missense_Mutation	SNP	G	TCGA-KK-A6E3-01A-21D-A30E-08		20444317	138694346	19	13179											
ZNF804B	219578	broad.mit.edu	37	chr7	88956732	88956732	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggaaagatgagaaaaaacaAgaaaaagcacttaaacgact	23	5	8	5	1	0	3	0	1	0	3	0	6	0	4	0	1	3	1	0	1	9	1			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr7:88956732A>C	ENST00000333190.4	+	3	933	c.324A>C	c.(322-324)caA>caC	p.Q108H		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	108						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AGAAAAAACAAGAAAAAGCAC	0.373										HNSCC(36;0.09)			4	70					0	0	1	0	0	C	88956732	A	C	88956732	3	2	251	1	0	0	0	0	1	0	0	0	18220	69	3	5	334	5	ZNF804B	7	88956732	Missense_Mutation	SNP	A	TCGA-KK-A6E3-01A-21D-A30E-08	68512415	88956732	70181931	20	13180											
ZAN	7455	broad.mit.edu	37	chr7	100363150	100363150	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctcgctcccagtgtgggtgCctccaccctgcaggcagcta	5	8	11	17	1	0	0	0	0	0	0	3	0	2	0	5	2	3	4	5	2	1	1			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr7:100363150C>T	ENST00000542585.1	+	0	4591				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AGTGTGGGTGCCTCCACCCTG	0.637													4	16					0	0	1	0	0	T	100363150	C	T	100363150	1	4	251	0	1	0	0	0	0	0	0	0	17573	747	26	2		2	ZAN	7	100363150	RNA	SNP	C	TCGA-KK-A6E3-01A-21D-A30E-08	11406418	100363150	58775513	21	13181											
MUC17	140453	broad.mit.edu	37	chr7	100677621	100677621	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgaaggtaccagcataccaaCctcgactcctagtgaaggaa	14	7	9	11	1	0	2	0	2	0	0	2	4	1	3	4	2	4	2	4	2	7	3			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr7:100677621C>A	ENST00000306151.4	+	3	2988	c.2924C>A	c.(2923-2925)aCc>aAc	p.T975N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	975	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGCATACCAACCTCGACTCCT	0.502													29	972					1.55469e-16	1.72744e-16	1	1	0	A	100677621	C	A	100677621	3	1	251	1	0	0	0	0	1	0	0	0	10022	507	18	4	2934	4	MUC17	7	100677621	Missense_Mutation	SNP	C	TCGA-KK-A6E3-01A-21D-A30E-08	314471	100677621	58461042	22	13182											
MEST	4232	broad.mit.edu	37	chr7	130143791	130143791	+	Frame_Shift_Del	DEL	C	C	-																															tagttcattttatctatgggCcattggatcctgtaaatccc																										TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr7:130143791delC	ENST00000223215.4	+	11	1065	c.844delC	c.(844-846)cafs	p.P282fs	MEST_ENST00000378576.4_Frame_Shift_Del_p.P239fs|MEST_ENST00000393187.1_Frame_Shift_Del_p.P273fs|MEST_ENST00000437945.1_Intron|MEST_ENST00000416162.2_Frame_Shift_Del_p.P239fs|MEST_ENST00000341441.4_Frame_Shift_Del_p.P273fs	NM_001253900.1|NM_002402.3	NP_001240829.1|NP_002393.2	Q5EB52	MEST_HUMAN	mesoderm specific transcript	282					mesoderm development	endoplasmic reticulum membrane|integral to membrane	hydrolase activity|protein binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2)	12	Melanoma(18;0.0435)					TATCTATGGGCCATTGGATCC	0.408													11	80	---	---	---	---						-	130143791	C	-	130143791	7	5	251	1	0	1	0	1	0	0	0	0	9534	739	26	0	886	0	MEST	7	130143791	Frame_Shift_Del	DEL	C	TCGA-KK-A6E3-01A-21D-A30E-08	29466170	130143791	28994872	23	13183											
MCPH1	79648	broad.mit.edu	37	chr8	6312713	6312713	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttttagatgactcatgtgaCggctttaaggacctcatcaa	11	13	9	8	1	3	3	3	2	0	1	3	4	3	4	1	2	0	2	1	2	3	4			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr8:6312713C>G	ENST00000344683.5	+	9	1951	c.1875C>G	c.(1873-1875)gaC>gaG	p.D625E		NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN	microcephalin 1	625						microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		ACTCATGTGACGGCTTTAAGG	0.348													8	98					0	0	1	0	0	G	6312713	C	G	6312713	3	3	251	1	0	0	0	0	1	0	0	0	9448	535	19	4	1917	4	MCPH1	8	6312713	Missense_Mutation	SNP	C	TCGA-KK-A6E3-01A-21D-A30E-08		6312713	140051309	24	13184											
SGCZ	137868	broad.mit.edu	37	chr8	14412372	14412372	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattcccactgggtaaagttGtgcattctcagtccttggca	9	13	9	10	0	1	0	1	0	1	0	4	0	3	0	2	2	1	4	2	2	3	5			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr8:14412372G>T	ENST00000382080.1	-	2	818	c.103C>A	c.(103-105)Caa>Aaa	p.Q35K	SGCZ_ENST00000421524.2_Missense_Mutation_p.Q22K	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	22					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		GGGTAAAGTTGTGCATTCTCA	0.388													7	185					0.307466	0.307466	1	1	0	T	14412372	G	T	14412372	3	4	251	1	0	0	0	0	1	0	0	0	14258	1386	48	4	863	4	SGCZ	8	14412372	Missense_Mutation	SNP	G	TCGA-KK-A6E3-01A-21D-A30E-08	8099659	14412372	131951650	25	13185											
ZNF883	169834	broad.mit.edu	37	chr9	115759947	115759947	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtgtgggttctctgatgtCggattagtgatgtactgtgg	5	16	15	5	1	1	2	0	2	1	0	3	3	1	3	0	3	1	2	0	3	2	3			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr9:115759947C>T	ENST00000427548.1	-	0	1866							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										TCTCTGATGTCGGATTAGTGA	0.408													19	49					0	0	1	0	0	T	115759947	C	T	115759947	1	4	251	0	1	0	0	0	0	0	0	0	18241	884	31	1		1	ZNF883	9	115759947	RNA	SNP	C	TCGA-KK-A6E3-01A-21D-A30E-08		115759947	25453484	26	13186											
PRTFDC1	56952	broad.mit.edu	37	chr10	25160959	25160959	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttgaaagatcatcgcctcCgattatctgcatctcaccca	10	11	6	14	3	3	2	2	1	2	1	6	3	4	2	3	0	1	2	3	0	2	2			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr10:25160959C>T	ENST00000320152.6	-	4	401	c.373G>A	c.(373-375)Gga>Aga	p.G125R	PRTFDC1_ENST00000376378.1_Missense_Mutation_p.G125R	NM_020200.5	NP_064585.1	Q9NRG1	PRDC1_HUMAN	phosphoribosyl transferase domain containing 1	125					adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP salvage|grooming behavior|hypoxanthine metabolic process|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|purine ribonucleoside salvage|response to amphetamine|striatum development	cytosol	hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity	p.G125R(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9						TCATCGCCTCCGATTATCTGC	0.453													11	314					0	0	1	0	0	T	25160959	C	T	25160959	3	4	251	1	0	0	0	0	1	0	0	0	12686	661	23	1	328	1	PRTFDC1	10	25160959	Missense_Mutation	SNP	C	TCGA-KK-A6E3-01A-21D-A30E-08		25160959	110373788	27	13187											
MYO3A	53904	broad.mit.edu	37	chr10	26455034	26455034	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagtcgagcgaggagccccGcatgagccctgacacctgtg	9	5	13	14	3	0	2	0	2	0	0	1	5	0	3	4	1	3	1	4	1	1	0			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr10:26455034G>A	ENST00000265944.5	+	27	3204	c.3038G>A	c.(3037-3039)cGc>cAc	p.R1013H	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1013	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	p.R1013H(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GAGGAGCCCCGCATGAGCCCT	0.448													5	273					0	0	1	0	0	A	26455034	G	A	26455034	3	1	251	1	0	0	0	0	1	0	0	0	10124	1087	38	1	3136	1	MYO3A	10	26455034	Missense_Mutation	SNP	G	TCGA-KK-A6E3-01A-21D-A30E-08	1294075	26455034	109079713	28	13188											
GAD2	2572	broad.mit.edu	37	chr10	26505785	26505785	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtctttcgggtcggaagatgGctctggggattccgagaatc	7	11	15	8	3	2	2	0	0	2	2	6	5	3	4	1	5	0	1	1	5	2	2			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr10:26505785G>A	ENST00000376261.3	+	1	550	c.47G>A	c.(46-48)gGc>gAc	p.G16D	GAD2_ENST00000259271.3_Missense_Mutation_p.G16D	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	16					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	TCGGAAGATGGCTCTGGGGAT	0.637													7	115					0	0	1	0	0	A	26505785	G	A	26505785	3	1	251	1	0	0	0	0	1	0	0	0	6215	1203	42	2	49	2	GAD2	10	26505785	Missense_Mutation	SNP	G	TCGA-KK-A6E3-01A-21D-A30E-08	50751	26505785	109028962	29	13189											
HIPK3	10114	broad.mit.edu	37	chr11	33308014	33308014	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttatcaaactcagtcaagTgccttttgtagtgtgaagaa	12	14	9	6	0	3	2	3	1	0	1	3	2	3	2	1	0	2	2	1	0	6	5			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr11:33308014T>C	ENST00000303296.4	+	2	359	c.54T>C	c.(52-54)agT>agC	p.S18S	HIPK3_ENST00000525975.1_Silent_p.S18S|HIPK3_ENST00000379016.3_Silent_p.S18S|HIPK3_ENST00000456517.1_Silent_p.S18S	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	18					anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						CTCAGTCAAGTGCCTTTTGTA	0.373													3	36					0	0	1	0	0	C	33308014	T	C	33308014	2	2	251	1	0	0	0	0	0	0	0	1	7159	1693	59	3		3	HIPK3	11	33308014	Silent	SNP	T	TCGA-KK-A6E3-01A-21D-A30E-08		33308014	101698502	30	13190											
MPEG1	219972	broad.mit.edu	37	chr11	58979777	58979777	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccaggtaggtggccatccTcgtctggttgttctctagac	5	13	12	11	1	2	1	0	0	2	1	5	1	3	1	3	4	1	3	3	4	2	4			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr11:58979777T>G	ENST00000361050.3	-	1	647	c.562A>C	c.(562-564)Agg>Cgg	p.R188R		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	188	MACPF.					integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				GTGGCCATCCTCGTCTGGTTG	0.527													8	105					0	0	1	0	0	G	58979777	T	G	58979777	2	3	251	1	0	0	0	0	0	0	0	1	9772	1550	54	5		5	MPEG1	11	58979777	Silent	SNP	T	TCGA-KK-A6E3-01A-21D-A30E-08	25671763	58979777	76026739	31	13191											
FDXACB1	91893	broad.mit.edu	37	chr11	111745901	111745901	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctgatctatccaaaaactAacatcatgcacataacatgg	16	11	4	10	0	3	1	1	1	2	0	4	1	4	1	1	1	4	1	1	1	5	4			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr11:111745901A>G	ENST00000260257.4	-	5	1667	c.1620T>C	c.(1618-1620)gtT>gtC	p.V540V	ALG9_ENST00000527377.1_Intron|ALG9_ENST00000524880.1_Intron|FDXACB1_ENST00000542429.1_Silent_p.V391V	NM_138378.2	NP_612387.1	Q9BRP7	FDXA1_HUMAN	ferredoxin-fold anticodon binding domain containing 1	540	FDX-ACB.				phenylalanyl-tRNA aminoacylation|tRNA processing		ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(3)	19						TCCAAAAACTAACATCATGCA	0.383													3	47					0	0	1	0	0	G	111745901	A	G	111745901	2	3	251	1	0	0	0	0	0	0	0	1	5839	349	13	3		3	FDXACB1	11	111745901	Silent	SNP	A	TCGA-KK-A6E3-01A-21D-A30E-08	52766124	111745901	23260615	32	13192											
ADIPOR2	79602	broad.mit.edu	37	chr12	1889767	1889767	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atggctcttccacacagtctActgccactcagagggggtct	8	10	10	13	0	4	1	1	0	3	1	5	1	5	1	2	3	2	1	2	3	1	2			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr12:1889767A>G	ENST00000357103.4	+	5	865	c.614A>G	c.(613-615)tAc>tGc	p.Y205C		NM_024551.2	NP_078827.2	Q86V24	ADR2_HUMAN	adiponectin receptor 2	205					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane	hormone binding|receptor activity			endometrium(1)|large_intestine(3)|lung(7)|stomach(1)	12	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000382)			CACACAGTCTACTGCCACTCA	0.448													15	158					0	0	1	0	0	G	1889767	A	G	1889767	3	3	251	1	0	0	0	0	1	0	0	0	318	391	14	3	628	3	ADIPOR2	12	1889767	Missense_Mutation	SNP	A	TCGA-KK-A6E3-01A-21D-A30E-08		1889767	131962128	33	13193											
SLC2A14	144195	broad.mit.edu	37	chr12	7967015	7967015	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcctgcccttcaaaggccCgtgtgatatcctcaaaagtc	9	10	9	13	1	2	1	2	1	0	0	4	1	3	1	4	1	2	0	4	1	4	2			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr12:7967015C>T	ENST00000543909.1	-	16	2219	c.1460G>A	c.(1459-1461)cGg>cAg	p.R487Q	SLC2A14_ENST00000539924.1_Missense_Mutation_p.R502Q|SLC2A14_ENST00000340749.5_Missense_Mutation_p.R464Q|SLC2A14_ENST00000542505.1_Missense_Mutation_p.R128Q|SLC2A14_ENST00000431042.2_Missense_Mutation_p.R464Q|SLC2A14_ENST00000535295.1_Missense_Mutation_p.R378Q|SLC2A14_ENST00000396589.2_Missense_Mutation_p.R487Q|SLC2A14_ENST00000542546.1_Missense_Mutation_p.R378Q			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	487					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		TTCAAAGGCCCGTGTGATATC	0.517													4	159					0	0	1	0	0	T	7967015	C	T	7967015	3	4	251	1	0	0	0	0	1	0	0	0	14598	652	23	1	106	1	SLC2A14	12	7967015	Missense_Mutation	SNP	C	TCGA-KK-A6E3-01A-21D-A30E-08	6077248	7967015	125884880	34	13194											
GRIN2B	2904	broad.mit.edu	37	chr12	13724865	13724865	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgggcacggtcccaaagcGgaaagggggtgagaagtcat	11	6	17	7	2	1	1	1	1	0	1	2	3	2	2	1	5	1	2	1	5	3	1			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr12:13724865G>A	ENST00000279593.3	-	10	2253	c.2044C>T	c.(2044-2046)Cgc>Tgc	p.R682C		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	682					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTCCCAAAGCGGAAAGGGGGT	0.488													4	36					0	0	1	0	0	A	13724865	G	A	13724865	3	1	251	1	0	0	0	0	1	0	0	0	6821	1116	39	1	2426	1	GRIN2B	12	13724865	Missense_Mutation	SNP	G	TCGA-KK-A6E3-01A-21D-A30E-08	5757850	13724865	120127030	35	13195											
FMNL3	91010	broad.mit.edu	37	chr12	50041125	50041125	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attacctcctcctgcttcttGcgggcttcattctcttgttc	3	18	6	14	1	3	0	1	0	2	0	7	0	5	0	3	1	3	3	3	1	1	7			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr12:50041125G>T	ENST00000335154.5	-	24	3038	c.2805C>A	c.(2803-2805)cgC>cgA	p.R935R	FMNL3_ENST00000550488.1_Silent_p.R934R|FMNL3_ENST00000293590.5_Silent_p.R935R|FMNL3_ENST00000352151.5_Silent_p.R884R	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN	formin-like 3	935	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						CCTGCTTCTTGCGGGCTTCAT	0.597													8	114					0.00448238	0.00468308	1	1	0	T	50041125	G	T	50041125	2	4	251	1	0	0	0	0	0	0	0	1	5986	1306	46	4		4	FMNL3	12	50041125	Silent	SNP	G	TCGA-KK-A6E3-01A-21D-A30E-08	36316260	50041125	83810770	36	13196											
MYL6B	140465	broad.mit.edu	37	chr12	56549344	56549344	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggggaacggcaaagtcatggGagcagagctcagacatgttc	12	6	15	8	1	2	2	2	0	0	2	3	4	2	4	0	4	3	4	0	4	2	1			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr12:56549344G>C	ENST00000553066.1	+	5	910	c.488G>C	c.(487-489)gGa>gCa	p.G163A	RP11-603J24.14_ENST00000548731.1_RNA|MYL6B_ENST00000552568.1_Intron|MYL6B_ENST00000550152.1_3'UTR|MYL6B_ENST00000550443.1_Missense_Mutation_p.G163A|MYL6B_ENST00000207437.5_Missense_Mutation_p.G163A			P14649	MYL6B_HUMAN	myosin, light chain 6B, alkali, smooth muscle and non-muscle	163	EF-hand 2.				muscle filament sliding|skeletal muscle tissue development	cytosol|muscle myosin complex|unconventional myosin complex	calcium ion binding|motor activity|protein binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(4)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			AAAGTCATGGGAGCAGAGCTC	0.567													9	161					0	0	1	0	0	C	56549344	G	C	56549344	3	2	251	1	0	0	0	0	1	0	0	0	10100	1174	41	4	502	4	MYL6B	12	56549344	Missense_Mutation	SNP	G	TCGA-KK-A6E3-01A-21D-A30E-08	6508219	56549344	77302551	37	13197											
PAN2	9924	broad.mit.edu	37	chr12	56711419	56711419	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccagcactgaggagaagaCagctgcatctgtcagagaca	13	5	12	11	1	2	4	1	1	1	3	2	6	2	4	1	1	3	3	1	1	1	0			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr12:56711419C>T	ENST00000425394.2	-	26	3959	c.3583G>A	c.(3583-3585)Gtc>Atc	p.V1195I	PAN2_ENST00000548043.1_Missense_Mutation_p.V1195I|PAN2_ENST00000440411.3_Missense_Mutation_p.V1191I|PAN2_ENST00000549090.1_5'UTR|PAN2_ENST00000257931.5_Missense_Mutation_p.V1194I	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	1195					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						GAGGAGAAGACAGCTGCATCT	0.463													5	49					0	0	1	0	0	T	56711419	C	T	56711419	3	4	251	1	0	0	0	0	1	0	0	0	11461	478	17	2	29	2	PAN2	12	56711419	Missense_Mutation	SNP	C	TCGA-KK-A6E3-01A-21D-A30E-08	162075	56711419	77140476	38	13198											
NACA	4666	broad.mit.edu	37	chr12	57112089	57112089	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggagtgggggcccccttgagGgatggggtagctggacctcc	5	7	19	10	0	0	1	0	1	0	0	1	4	1	4	4	7	1	2	4	7	1	2			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr12:57112089G>A	ENST00000454682.1	-	3	3506	c.3225C>T	c.(3223-3225)tcC>tcT	p.S1075S	NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CCCCCTTGAGGGATGGGGTAG	0.667			T	BCL6	NHL								5	115					0	0	1	0	0	A	57112089	G	A	57112089	2	1	251	1	0	0	0	0	0	0	0	1	10181	1219	43	2		2	NACA	12	57112089	Silent	SNP	G	TCGA-KK-A6E3-01A-21D-A30E-08	400670	57112089	76739806	39	13199											
CDH24	64403	broad.mit.edu	37	chr14	23524544	23524544	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttggtgcggccctctccccGgtcaacatccgagtgcagct	5	9	11	16	3	2	0	1	0	1	0	4	1	3	0	4	3	4	2	4	3	1	1			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr14:23524544G>A	ENST00000397359.3	-	3	479	c.220C>T	c.(220-222)Cgg>Tgg	p.R74W	CDH24_ENST00000267383.5_Missense_Mutation_p.R74W|CDH24_ENST00000487137.2_Missense_Mutation_p.R74W|CDH24_ENST00000554034.1_Missense_Mutation_p.R74W	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN	cadherin 24, type 2	74	Cadherin 1.				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		CCCTCTCCCCGGTCAACATCC	0.557											OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	75					0	0	1	0	0	A	23524544	G	A	23524544	3	1	251	1	0	0	0	0	1	0	0	0	3131	1115	39	1	2283	1	CDH24	14	23524544	Missense_Mutation	SNP	G	TCGA-KK-A6E3-01A-21D-A30E-08		23524544	83824996	40	13200											
PYGL	5836	broad.mit.edu	37	chr14	51372228	51372228	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtcactggagaatttccccGaggcagctatgtttttgagt	8	13	12	8	1	1	2	1	1	0	1	2	4	2	2	2	3	1	3	2	3	2	4			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr14:51372228G>A	ENST00000216392.7	-	20	2758	c.2426C>T	c.(2425-2427)tCg>tTg	p.S809L	PYGL_ENST00000544180.2_Missense_Mutation_p.S775L|PYGL_ENST00000532462.1_Intron	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	809					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	GAATTTCCCCGAGGCAGCTAT	0.423													13	108					0	0	1	0	0	A	51372228	G	A	51372228	3	1	251	1	0	0	0	0	1	0	0	0	12913	1059	37	1	121	1	PYGL	14	51372228	Missense_Mutation	SNP	G	TCGA-KK-A6E3-01A-21D-A30E-08	27847684	51372228	55977312	41	13201											
MTHFD1	4522	broad.mit.edu	37	chr14	64909076	64909076	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccccacgtggtggtgcttGttgccactgtcagggctctc	3	11	13	14	1	2	0	1	0	1	0	3	0	2	0	3	3	2	3	3	3	0	2			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr14:64909076G>T	ENST00000555709.1	+	21	2479	c.2092G>T	c.(2092-2094)Gtt>Ttt	p.V698F	MTHFD1_ENST00000216605.7_Missense_Mutation_p.V754F|CTD-2555O16.2_ENST00000556640.1_RNA|MTHFD1_ENST00000545908.1_Missense_Mutation_p.V754F	NM_005956.3	NP_005947.3	P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	698	Formyltetrahydrofolate synthetase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	GGTGGTGCTTGTTGCCACTGT	0.537													4	89					0.00024832	0.000267422	1	1	0	T	64909076	G	T	64909076	3	4	251	1	0	0	0	0	1	0	0	0	9975	1377	48	4	2174	4	MTHFD1	14	64909076	Missense_Mutation	SNP	G	TCGA-KK-A6E3-01A-21D-A30E-08	13536848	64909076	42440464	42	13202											
CSPG4	1464	broad.mit.edu	37	chr15	75985564	75985564	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acctccaggtggttctcaccGaagaaggaagctgtgtgaga	11	8	13	9	1	1	2	1	1	1	2	3	5	2	3	3	3	1	2	3	3	3	1			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr15:75985564G>A	ENST00000308508.5	-	2	191	c.99C>T	c.(97-99)ttC>ttT	p.F33F		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	33	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 1.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GGTTCTCACCGAAGAAGGAAG	0.617													7	24					0	0	1	0	0	A	75985564	G	A	75985564	2	1	251	1	0	0	0	0	0	0	0	1	3985	1049	37	1		1	CSPG4	15	75985564	Silent	SNP	G	TCGA-KK-A6E3-01A-21D-A30E-08		75985564	26545828	43	13203											
ABCC11	85320	broad.mit.edu	37	chr16	48218517	48218517	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagcaggtagttattctgcGcatcagtcagcctcttaaac	11	11	8	11	1	4	0	2	0	2	0	4	0	4	0	1	1	4	4	1	1	4	4			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr16:48218517G>A	ENST00000394747.1	-	22	3441	c.3092C>T	c.(3091-3093)gCg>gTg	p.A1031V	ABCC11_ENST00000356608.2_Missense_Mutation_p.A1031V|ABCC11_ENST00000353782.5_Missense_Mutation_p.A1031V|ABCC11_ENST00000394748.1_Missense_Mutation_p.A1031V|ABCC11_ENST00000565329.1_5'UTR	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1031	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				GTTATTCTGCGCATCAGTCAG	0.507													6	106					0	0	1	0	0	A	48218517	G	A	48218517	3	1	251	1	0	0	0	0	1	0	0	0	51	1087	38	1	1088	1	ABCC11	16	48218517	Missense_Mutation	SNP	G	TCGA-KK-A6E3-01A-21D-A30E-08		48218517	42136236	44	13204											
GLG1	2734	broad.mit.edu	37	chr16	74490581	74490581	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccacatctcaatccggtcaTtgaggcgctttttgcactcg	7	13	8	13	3	2	1	2	1	1	0	6	1	4	1	2	2	1	2	2	2	1	3	rs144493700	byFrequency	TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr16:74490581T>C	ENST00000422840.2	-	25	3337	c.3338A>G	c.(3337-3339)aAt>aGt	p.N1113S	GLG1_ENST00000205061.5_Missense_Mutation_p.N1113S|GLG1_ENST00000447066.2_Missense_Mutation_p.N1102S	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	1113						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						AATCCGGTCATTGAGGCGCTT	0.418													23	112					0	0	1	0	0	C	74490581	T	C	74490581	3	2	251	1	0	0	0	0	1	0	0	0	6478	1493	52	3	289	3	GLG1	16	74490581	Missense_Mutation	SNP	T	TCGA-KK-A6E3-01A-21D-A30E-08	26272064	74490581	15864172	45	13205											
CCDC144NL	339184	broad.mit.edu	37	chr17	20799125	20799125	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacatcgtgctggagctggTctaaggcgccctcaccgtgc	6	8	14	13	3	2	0	1	0	1	0	3	2	2	2	2	4	3	2	2	4	1	1			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr17:20799125T>C	ENST00000327925.5	-	1	328	c.209A>G	c.(208-210)gAc>gGc	p.D70G	RP11-344E13.3_ENST00000583962.1_RNA|RP11-344E13.3_ENST00000577860.1_RNA|RP11-344E13.3_ENST00000582324.1_RNA|RP11-344E13.3_ENST00000439794.2_RNA|RP11-344E13.3_ENST00000577537.1_RNA|RP11-344E13.3_ENST00000417232.2_RNA	NM_001004306.1	NP_001004306.1	Q6NUI1	C144L_HUMAN	coiled-coil domain containing 144 family, N-terminal like	70										large_intestine(3)|lung(3)|skin(1)	7						CTGGAGCTGGTCTAAGGCGCC	0.642													7	191					0	0	1	0	0	C	20799125	T	C	20799125	3	2	251	1	0	0	0	0	1	0	0	0	2797	1667	58	3	472	3	CCDC144NL	17	20799125	Missense_Mutation	SNP	T	TCGA-KK-A6E3-01A-21D-A30E-08		20799125	60396085	46	13206											
ZNF519	162655	broad.mit.edu	37	chr18	14105529	14105529	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtatggattctctgatgtTgagtaaggtatgagcctctg	9	14	12	6	0	2	3	0	3	2	0	3	4	2	4	1	2	1	4	1	2	3	5			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr18:14105529T>C	ENST00000590202.1	-	3	1162	c.1010A>G	c.(1009-1011)cAa>cGa	p.Q337R	ZNF519_ENST00000589203.1_Intron|ZNF519_ENST00000589498.1_Intron	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	337					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						TCTCTGATGTTGAGTAAGGTA	0.428													10	132					0	0	1	0	0	C	14105529	T	C	14105529	3	2	251	1	0	0	0	0	1	0	0	0	18021	1812	63	3	616	3	ZNF519	18	14105529	Missense_Mutation	SNP	T	TCGA-KK-A6E3-01A-21D-A30E-08		14105529	63971719	47	13207											
DMPK	1760	broad.mit.edu	37	chr19	46281067	46281067	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcctgtcccaggcccaccgCccacagcctgcaggatctcg	6	6	10	19	2	1	0	0	0	1	0	3	1	2	1	6	2	3	1	6	2	0	0			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr19:46281067C>T	ENST00000600757.1	-	6	1457	c.770G>A	c.(769-771)gGc>gAc	p.G257D	DMPK_ENST00000291270.4_Missense_Mutation_p.G247D|DMPK_ENST00000354227.5_Missense_Mutation_p.G247D|DMPK_ENST00000447742.2_Missense_Mutation_p.G247D|DMPK_ENST00000458663.2_Missense_Mutation_p.G247D|DMPK_ENST00000343373.4_Missense_Mutation_p.G257D			Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	257	Protein kinase.				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		AGGCCCACCGCCCACAGCCTG	0.652													8	161					0	0	1	0	0	T	46281067	C	T	46281067	3	4	251	1	0	0	0	0	1	0	0	0	4612	739	26	2	1192	2	DMPK	19	46281067	Missense_Mutation	SNP	C	TCGA-KK-A6E3-01A-21D-A30E-08		46281067	12847916	48	13208											
VN1R2	317701	broad.mit.edu	37	chr19	53762385	53762385	+	Frame_Shift_Del	DEL	C	C	-																															tgggatattgttctgccccaCttagtgatgaagtcacaaag																										TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr19:53762385delC	ENST00000341702.3	+	1	841	c.757delC	c.(757-759)ttfs	p.L253fs		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	253					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		TTCTGCCCCACTTAGTGATGA	0.433													10	159	---	---	---	---						-	53762385	C	-	53762385	7	5	251	1	0	1	0	1	0	0	0	0	17239	565	20	0	759	0	VN1R2	19	53762385	Frame_Shift_Del	DEL	C	TCGA-KK-A6E3-01A-21D-A30E-08	7481318	53762385	5366598	49	13209											
LILRB1	0	broad.mit.edu	37	chr19	55143586	55143586	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcttctccgtgggccccGtgagcccgagtcgcaggtgg	4	8	14	15	4	2	1	0	1	2	0	4	2	2	1	5	3	1	1	5	3	0	1			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr19:55143586G>A	ENST00000396331.1	+	6	916	c.559G>A	c.(559-561)Gtg>Atg	p.V187M	LILRB1_ENST00000396332.4_Missense_Mutation_p.V187M|LILRB1_ENST00000396327.3_Missense_Mutation_p.V187M|LILRB1_ENST00000434867.2_Missense_Mutation_p.V187M|LILRB1_ENST00000324602.7_Missense_Mutation_p.V187M|LILRB1_ENST00000396315.1_Missense_Mutation_p.V187M|LILRB1_ENST00000396317.1_Missense_Mutation_p.V187M|LILRB1_ENST00000396321.2_Missense_Mutation_p.V187M|LILRB1_ENST00000448689.1_Missense_Mutation_p.V187M|LILRB1_ENST00000418536.2_Missense_Mutation_p.V187M|LILRB1_ENST00000427581.2_Missense_Mutation_p.V223M	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	187	Ig-like C2-type 2.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CGTGGGCCCCGTGAGCCCGAG	0.587										HNSCC(37;0.09)			4	201					0	0	1	0	0	A	55143586	G	A	55143586	3	1	251	1	0	0	0	0	1	0	0	0	8830	1145	40	1	573	1	LILRB1	19	55143586	Missense_Mutation	SNP	G	TCGA-KK-A6E3-01A-21D-A30E-08	1381201	55143586	3985397	50	13210											
SPATA2	9825	broad.mit.edu	37	chr20	48525010	48525010	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttgaatttagtatccatTgaactgggcttccccatccg	8	14	7	12	1	0	2	0	2	0	0	4	2	4	2	5	1	1	2	5	1	4	6			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr20:48525010T>G	ENST00000422556.1	-	2	367	c.18A>C	c.(16-18)tcA>tcC	p.S6S	SPATA2_ENST00000289431.5_Silent_p.S6S|SPATA2_ENST00000543716.1_Intron	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	6					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			TAGTATCCATTGAACTGGGCT	0.522													5	51					0	0	1	0	0	G	48525010	T	G	48525010	2	3	251	1	0	0	0	0	0	0	0	1	15061	1799	63	5		5	SPATA2	20	48525010	Silent	SNP	T	TCGA-KK-A6E3-01A-21D-A30E-08		48525010	14500510	51	13211											
TTC3	7267	broad.mit.edu	37	chr21	38511002	38511002	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccatttctctccttggaatAggacagcctgaggtaagatt	10	12	10	9	0	1	2	0	1	1	1	3	4	2	4	3	3	1	1	3	3	3	5			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr21:38511002A>C	ENST00000399017.2	+	19	4394	c.1647A>C	c.(1645-1647)atA>atC	p.I549I	TTC3_ENST00000355666.1_Silent_p.I549I|TTC3_ENST00000540756.1_Silent_p.I239I|TTC3_ENST00000354749.2_Silent_p.I549I|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	549					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				TCCTTGGAATAGGACAGCCTG	0.323													5	120					0	0	1	0	0	C	38511002	A	C	38511002	2	2	251	1	0	0	0	0	0	0	0	1	16759	410	15	5		5	TTC3	21	38511002	Silent	SNP	A	TCGA-KK-A6E3-01A-21D-A30E-08		38511002	9618893	52	13212											
TMPRSS2	0	broad.mit.edu	37	chr21	42843790	42843791	+	Frame_Shift_Ins	INS	-	-	G																															atgtcattgttcttggtcttINSggagtcataatttggatgag																										TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr21:42843790_42843791insG	ENST00000398585.3	-	10	1188_1189	c.1128_1129insC	c.(1126-1131)tcagacfs	p.D377fs	TMPRSS2_ENST00000458356.1_Frame_Shift_Ins_p.D340fs|TMPRSS2_ENST00000332149.5_Frame_Shift_Ins_p.D340fs	NM_001135099.1	NP_001128571.1	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	340	Peptidase S1.				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				TTCTTGGTCTTGGAGTCATAAT	0.46			T	"ERG, ETV1, ETV4, ETV5"	prostate								14	130	---	---	---	---						G	42843791	-	G	42843790	7	5	251	1	0	1	1	0	0	0	0	0	16307	1821	63	0	480	0	TMPRSS2	21	42843790	Frame_Shift_Ins	INS	-	TCGA-KK-A6E3-01A-21D-A30E-08	4332788	42843790	5286105	53	13213											
IL17RA	23765	broad.mit.edu	37	chr22	17589607	17589607	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcctgcttcggcacctacGtagtctgctacttcagcgag	7	10	10	14	3	2	0	1	0	1	0	3	1	2	0	2	1	6	4	2	1	3	5			TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr22:17589607G>A	ENST00000319363.6	+	13	1631	c.1498G>A	c.(1498-1500)Gta>Ata	p.V500I		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	500	SEFIR.				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		CGGCACCTACGTAGTCTGCTA	0.642													4	28					0	0	1	0	0	A	17589607	G	A	17589607	3	1	251	1	0	0	0	0	1	0	0	0	7683	1145	40	1	1548	1	IL17RA	22	17589607	Missense_Mutation	SNP	G	TCGA-KK-A6E3-01A-21D-A30E-08		17589607	33714959	54	13214											
XBP1	7494	broad.mit.edu	37	chr22	29196498	29196499	+	In_Frame_Ins	INS	-	-	GCC																															cggccgggttcggcgcggctINSgccaccaccaccatagctcc																										TCGA-KK-A6E3-01A-21D-A30E-08	TCGA-KK-A6E3-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1106f74-3476-405d-93ad-b718d7f393bc	ee4e1c2b-7911-4e58-a5c2-5211c8d6ef54	g.chr22:29196498_29196499insGCC	ENST00000216037.6	-	1	86_87	c.14_15insGGC	c.(13-15)ggc>gGGCgc	p.5_6insR	XBP1_ENST00000403532.3_In_Frame_Ins_p.5_6insR|XBP1_ENST00000344347.5_In_Frame_Ins_p.5_6insR	NM_001079539.1|NM_005080.3	NP_001073007.1|NP_005071.2	P17861	XBP1_HUMAN	X-box binding protein 1	5					immune response	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|large_intestine(1)|lung(1)	5						TCGGCGCGGCTGCCACCACCAC	0.762													4	7	---	---	---	---						GCC	29196499	-	GCC	29196498	7	5	251	1	0	1	1	0	0	0	0	0	17482	1567	55	0	1161	0	XBP1	22	29196498	In_Frame_Ins	INS	-	TCGA-KK-A6E3-01A-21D-A30E-08	11606891	29196498	22108068	55	13215											
AADACL4	343066	broad.mit.edu	37	chr1	12726653	12726653	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctgtatgatggttttcaCggatccattatcttttttga	8	18	7	8	1	2	2	1	2	1	0	3	3	3	3	2	2	0	2	2	2	2	7			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr1:12726653C>T	ENST00000376221.1	+	4	1131	c.1131C>T	c.(1129-1131)caC>caT	p.H377H		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	377						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		ATGGTTTTCACGGATCCATTA	0.443													34	75					0	0	1	0	0	T	12726653	C	T	12726653	2	4	252	1	0	0	0	0	0	0	0	1	13	535	19	1		1	AADACL4	1	12726653	Silent	SNP	C	TCGA-KK-A6E4-01A-11D-A30E-08		12726653	236523968	1	13216											
PTCH2	8643	broad.mit.edu	37	chr1	45307636	45307636	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacaatgtctctggatccCgcatcccagagagaagagca	12	6	10	13	1	1	3	0	0	1	3	4	5	3	4	3	1	1	2	3	1	2	0			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr1:45307636C>T	ENST00000447098.2	-	2	159	c.148G>A	c.(148-150)Ggg>Agg	p.G50R	PTCH2_ENST00000372192.3_Missense_Mutation_p.G50R	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	50					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CTCTGGATCCCGCATCCCAGA	0.552									Basal Cell Nevus syndrome				85	90					0	0	1	0	0	T	45307636	C	T	45307636	3	4	252	1	0	0	0	0	1	0	0	0	12780	652	23	1	3567	1	PTCH2	1	45307636	Missense_Mutation	SNP	C	TCGA-KK-A6E4-01A-11D-A30E-08	32580983	45307636	203942985	2	13217											
BCAR3	8412	broad.mit.edu	37	chr1	94054885	94054885	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaagtgctgagcgaggttcTtccactgacaggtcaggaca	10	9	13	9	1	2	3	1	3	1	0	3	5	3	4	1	3	2	2	1	3	1	2			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr1:94054885T>G	ENST00000370244.1	-	7	866	c.578A>C	c.(577-579)aAg>aCg	p.K193T	BCAR3_ENST00000370243.1_Missense_Mutation_p.K193T|BCAR3_ENST00000370247.3_Missense_Mutation_p.K102T|BCAR3_ENST00000260502.6_Missense_Mutation_p.K193T	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	193	SH2.				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		AGCGAGGTTCTTCCACTGACA	0.547													4	52					0	0	1	0	0	G	94054885	T	G	94054885	3	3	252	1	0	0	0	0	1	0	0	0	1347	1609	56	5	1931	5	BCAR3	1	94054885	Missense_Mutation	SNP	T	TCGA-KK-A6E4-01A-11D-A30E-08	48747249	94054885	155195736	3	13218											
SPTA1	6708	broad.mit.edu	37	chr1	158618311	158618311	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgtctcaccttatctcccagGggtacgaggtccctttcaaa	8	12	8	13	1	3	0	2	0	2	0	6	1	4	0	3	3	1	1	3	3	3	3			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr1:158618311G>T	ENST00000368148.3	-	26	3882	c.3702C>A	c.(3700-3702)ccC>ccA	p.P1234P	SPTA1_ENST00000368147.3_Silent_p.P1234P	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1234					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TATCTCCCAGGGGTACGAGGT	0.493													43	71					6.1244e-12	6.87652e-12	1	1	0	T	158618311	G	T	158618311	2	4	252	1	0	0	0	0	0	0	0	1	15172	1219	43	4		4	SPTA1	1	158618311	Silent	SNP	G	TCGA-KK-A6E4-01A-11D-A30E-08	64563426	158618311	90632310	4	13219											
ATP1A2	477	broad.mit.edu	37	chr1	160099088	160099088	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgatgcctctgagtcagcTctgctcaagtgcattgagct	7	12	12	10	0	4	3	2	3	2	0	4	3	4	3	1	1	5	4	1	1	1	1			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr1:160099088T>C	ENST00000361216.3	+	11	1448	c.1359T>C	c.(1357-1359)gcT>gcC	p.A453A	ATP1A2_ENST00000392233.3_Silent_p.A453A|ATP1A2_ENST00000472488.1_3'UTR	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	453					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CTGAGTCAGCTCTGCTCAAGT	0.532													29	223					0	0	1	0	0	C	160099088	T	C	160099088	2	2	252	1	0	0	0	0	0	0	0	1	1128	1538	54	3		3	ATP1A2	1	160099088	Silent	SNP	T	TCGA-KK-A6E4-01A-11D-A30E-08	1480777	160099088	89151533	5	13220											
SOS1	6654	broad.mit.edu	37	chr2	39250208	39250208	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgtgtctctcatgtttggctCctacacgtgtaagagttcct	6	16	9	10	1	2	1	1	0	1	1	5	1	4	1	2	1	1	4	2	1	2	4			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr2:39250208C>T	ENST00000426016.1	-	11	1447	c.1361G>A	c.(1360-1362)gGa>gAa	p.G454E	SOS1_ENST00000402219.2_Missense_Mutation_p.G454E|SOS1_ENST00000395038.2_Missense_Mutation_p.G454E|SOS1_ENST00000472480.1_5'UTR			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	454	PH.				apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				ATGTTTGGCTCCTACACGTGT	0.393									Noonan syndrome				49	59					0	0	1	0	0	T	39250208	C	T	39250208	3	4	252	1	0	0	0	0	1	0	0	0	14990	855	30	2	2696	2	SOS1	2	39250208	Missense_Mutation	SNP	C	TCGA-KK-A6E4-01A-11D-A30E-08		39250208	203949165	6	13221											
HOXD12	3238	broad.mit.edu	37	chr2	176965063	176965063	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgaacatgacagtgcaggcGgcgggcgttgcctcttgcct	6	10	14	11	3	1	2	0	2	1	0	1	2	1	2	2	3	4	2	2	3	1	3			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr2:176965063G>A	ENST00000406506.2	+	1	606	c.534G>A	c.(532-534)gcG>gcA	p.A178A	HOXD12_ENST00000404162.2_Silent_p.A178A			P35452	HXD12_HUMAN	homeobox D12	178						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		CAGTGCAGGCGGCGGGCGTTG	0.687													12	25					0	0	1	0	0	A	176965063	G	A	176965063	2	1	252	1	0	0	0	0	0	0	0	1	7362	1103	39	1		1	HOXD12	2	176965063	Silent	SNP	G	TCGA-KK-A6E4-01A-11D-A30E-08	137714855	176965063	66234310	7	13222											
TTN	7273	broad.mit.edu	37	chr2	179393601	179393601	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caccagcaatgttggcttttAaaaccagtctttgaccttcg	10	13	7	11	1	1	1	0	1	1	0	2	1	1	1	3	1	2	3	3	1	3	5			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr2:179393601A>C	ENST00000589042.1	-	360	107101	c.106877T>G	c.(106876-106878)tTa>tGa	p.L35626*	TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.L33058*|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.L33985*|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.L26753*|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.L26686*|TTN-AS1_ENST00000591867.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.L26561*|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592600.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33985							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTGGCTTTTAAAACCAGTCT	0.433													10	21					0	0	1	0	0	C	179393601	A	C	179393601	4	2	252	1	0	0	0	0	0	1	0	0	16797	372	13	5	1114	5	TTN	2	179393601	Nonsense_Mutation	SNP	A	TCGA-KK-A6E4-01A-11D-A30E-08	2428538	179393601	63805772	8	13223											
ABTB1	80325	broad.mit.edu	37	chr3	127399141	127399141	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgggaggacttcgtggaggcGgtgaaggaggaggcagcggc	8	4	22	7	4	0	1	0	1	0	0	1	6	0	6	0	9	1	1	0	9	1	1			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr3:127399141G>A	ENST00000468137.1	+	11	1450	c.834G>A	c.(832-834)gcG>gcA	p.A278A	ABTB1_ENST00000232744.8_Silent_p.A420A|ABTB1_ENST00000453791.2_Silent_p.A278A|ABTB1_ENST00000393363.3_Silent_p.A278A			Q969K4	ABTB1_HUMAN	ankyrin repeat and BTB (POZ) domain containing 1	420	BTB 2.					cytoplasm|nucleolus|plasma membrane	translation elongation factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						TCGTGGAGGCGGTGAAGGAGG	0.672													10	28					0	0	1	0	0	A	127399141	G	A	127399141	2	1	252	1	0	0	0	0	0	0	0	1	102	1103	39	1		1	ABTB1	3	127399141	Silent	SNP	G	TCGA-KK-A6E4-01A-11D-A30E-08		127399141	70623289	9	13224											
WDFY3	23001	broad.mit.edu	37	chr4	85699758	85699758	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaagaaaaagttagatggagGatgtggctgttaagaaggga	17	8	15	1	0	0	3	0	0	0	3	0	6	0	6	0	4	0	3	0	4	6	2	rs146868524		TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr4:85699758G>A	ENST00000322366.6	-	27	4823	c.4416C>T	c.(4414-4416)atC>atT	p.I1472I	WDFY3_ENST00000295888.4_Silent_p.I1472I			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1472						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TTAGATGGAGGATGTGGCTGT	0.388													29	43					0	0	1	0	0	A	85699758	G	A	85699758	2	1	252	1	0	0	0	0	0	0	0	1	17330	1164	41	2		2	WDFY3	4	85699758	Silent	SNP	G	TCGA-KK-A6E4-01A-11D-A30E-08		85699758	105454518	10	13225											
PCDHA9	0	broad.mit.edu	37	chr5	140229523	140229523	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcacggtgtctgcgcgggaCgctgacgcgcaggagaacgc	7	6	16	12	7	2	2	1	1	1	1	2	4	2	3	0	3	2	2	0	3	1	1			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr5:140229523C>T	ENST00000378122.3	+	1	2167	c.1443C>T	c.(1441-1443)gaC>gaT	p.D481D	PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Silent_p.D481D|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCGCGGGACGCTGACGCGC	0.657													34	82					0	0	1	0	0	T	140229523	C	T	140229523	2	4	252	1	0	0	0	0	0	0	0	1	11578	535	19	1		1	PCDHA9	5	140229523	Silent	SNP	C	TCGA-KK-A6E4-01A-11D-A30E-08		140229523	40685737	11	13226											
GEMIN5	25929	broad.mit.edu	37	chr5	154270986	154270986	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctggcatgcttttctgaaaaGagctccttaaaagtactcag	12	12	8	9	0	2	2	1	1	1	1	3	2	3	2	1	1	3	4	1	1	5	4			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr5:154270986G>C	ENST00000285873.7	-	26	4152	c.4077C>G	c.(4075-4077)ctC>ctG	p.L1359L		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	1359					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding	p.L1359L(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTTCTGAAAAGAGCTCCTTAA	0.468													8	158					0	0	1	0	0	C	154270986	G	C	154270986	2	2	252	1	0	0	0	0	0	0	0	1	6373	929	33	4		4	GEMIN5	5	154270986	Silent	SNP	G	TCGA-KK-A6E4-01A-11D-A30E-08	14041463	154270986	26644274	12	13227											
CCND3	896	broad.mit.edu	37	chr6	41908118	41908118	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacacgcacccgcaactggCggggagagacagcgtggtcg	10	3	15	13	5	0	1	0	0	0	1	1	3	0	2	1	4	2	2	1	4	1	0			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr6:41908118C>A	ENST00000511642.1	-	2	912	c.161G>T	c.(160-162)cGc>cTc	p.R54L	CCND3_ENST00000415497.2_Intron|CCND3_ENST00000414200.2_Intron|CCND3_ENST00000372991.4_Missense_Mutation_p.R135L|CCND3_ENST00000511686.1_Intron|CCND3_ENST00000372988.4_Missense_Mutation_p.R54L|CCND3_ENST00000372987.4_Missense_Mutation_p.R85L|CCND3_ENST00000510503.1_Missense_Mutation_p.R54L			P30281	CCND3_HUMAN	cyclin D3	135	Cyclin N-terminal.				cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(13)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	20	Colorectal(47;0.121)		Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCGCAACTGGCGGGGAGAGAC	0.597			T	IGH@	MM								52	68					4.32865e-36	4.94703e-36	1	1	0	A	41908118	C	A	41908118	3	1	252	1	0	0	0	0	1	0	0	0	2940	768	27	4	490	4	CCND3	6	41908118	Missense_Mutation	SNP	C	TCGA-KK-A6E4-01A-11D-A30E-08		41908118	129206949	13	13228											
TRERF1	55809	broad.mit.edu	37	chr6	42204105	42204106	+	In_Frame_Ins	INS	-	-	TCC																															atttcctatcttcttccgggINStcctcctcctcctcctcctc																								rs146190272	by1000genomes	TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr6:42204105_42204106insTCC	ENST00000541110.1	-	16	3531_3532	c.2963_2964insGGA	c.(2962-2964)gcc>gGGAcc	p.988_988A>GT	TRERF1_ENST00000372917.4_In_Frame_Ins_p.885_885A>GT|TRERF1_ENST00000340840.2_In_Frame_Ins_p.885_885A>GT|TRERF1_ENST00000354325.2_In_Frame_Ins_p.885_885A>GT|TRERF1_ENST00000372922.4_In_Frame_Ins_p.968_968A>GT			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	968	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTTCTTCCGGGtcctcctcctc	0.53													4	4	---	---	---	---						TCC	42204106	-	TCC	42204105	7	5	252	1	0	1	1	0	0	0	0	0	16536	1252	44	0	710	0	TRERF1	6	42204105	In_Frame_Ins	INS	-	TCGA-KK-A6E4-01A-11D-A30E-08	295987	42204105	128910962	14	13229											
EYS	346007	broad.mit.edu	37	chr6	66205285	66205285	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccatcaggctcagaatgaCgattgatttgtcagtcattt	12	13	8	8	1	4	3	4	2	0	1	4	4	4	3	1	1	1	1	1	1	2	3			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr6:66205285C>T	ENST00000503581.1	-	4	556	c.19G>A	c.(19-21)Gtc>Atc	p.V7I	EYS_ENST00000370616.2_Missense_Mutation_p.V7I|EYS_ENST00000370621.3_Missense_Mutation_p.V7I|EYS_ENST00000342421.5_Missense_Mutation_p.V7I|EYS_ENST00000370618.3_Missense_Mutation_p.V7I|EYS_ENST00000393380.2_Missense_Mutation_p.V7I	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	7					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CTCAGAATGACGATTGATTTG	0.368													14	39					0	0	1	0	0	T	66205285	C	T	66205285	3	4	252	1	0	0	0	0	1	0	0	0	5360	536	19	1	9537	1	EYS	6	66205285	Missense_Mutation	SNP	C	TCGA-KK-A6E4-01A-11D-A30E-08	24001180	66205285	104909782	15	13230											
SYNCRIP	10492	broad.mit.edu	37	chr6	86329033	86329033	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgaatgaacgcataatcttTtaacttcttcactcgttcca	12	15	4	10	2	3	2	1	2	2	0	5	2	4	2	1	0	2	2	1	0	4	6			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr6:86329033T>A	ENST00000355238.6	-	9	1317	c.1111A>T	c.(1111-1113)Aaa>Taa	p.K371*	SYNCRIP_ENST00000369622.3_Nonsense_Mutation_p.K371*	NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1	NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	371	RRM 3.				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		GCATAATCTTTTAACTTCTTC	0.363													5	97					0	0	1	0	0	A	86329033	T	A	86329033	4	1	252	1	0	0	0	0	0	1	0	0	15501	1850	64	5	818	5	SYNCRIP	6	86329033	Nonsense_Mutation	SNP	T	TCGA-KK-A6E4-01A-11D-A30E-08	20123748	86329033	84786034	16	13231											
C6orf165	154313	broad.mit.edu	37	chr6	88173768	88173768	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccagaaagttactcactcaGtacaaactgatcttagtcac	14	10	6	11	0	4	2	3	1	1	1	4	2	4	2	1	0	3	2	1	0	5	3			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr6:88173768G>A	ENST00000507897.1	+	13	1752	c.1669G>A	c.(1669-1671)Gta>Ata	p.V557I	C6orf165_ENST00000506888.1_3'UTR|C6ORF165_ENST00000369562.4_Missense_Mutation_p.V557I			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	557										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		TACTCACTCAGTACAAACTGA	0.388													23	34					0	0	1	0	0	A	88173768	G	A	88173768	3	1	252	1	0	0	0	0	1	0	0	0	2355	1029	36	2	1715	2	C6orf165	6	88173768	Missense_Mutation	SNP	G	TCGA-KK-A6E4-01A-11D-A30E-08	1844735	88173768	82941299	17	13232											
TBP	6908	broad.mit.edu	37	chr6	170871043	170871043	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcaacaGcaacagcagcagcagcagca	16	0	11	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	11	0	0	2	0			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr6:170871043G>A	ENST00000392092.2	+	3	498	c.219G>A	c.(217-219)caG>caA	p.Q73Q	TBP_ENST00000540980.1_Silent_p.Q53Q|TBP_ENST00000230354.6_Silent_p.Q73Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	73	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q73Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcaacagcaacagcagc	0.562													5	62					0	0	1	0	0	A	170871043	G	A	170871043	2	1	252	1	0	0	0	0	0	0	0	1	15704	962	34	2		2	TBP	6	170871043	Silent	SNP	G	TCGA-KK-A6E4-01A-11D-A30E-08	82697275	170871043	244024	18	13233											
MICALL2	79778	broad.mit.edu	37	chr7	1484421	1484421	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgccagaaaggctggtgcCggggggcactgctgatgttt	6	10	16	9	1	1	2	0	1	1	1	1	2	1	2	2	5	3	4	2	5	1	1			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr7:1484421C>T	ENST00000297508.7	-	6	1460	c.1285G>A	c.(1285-1287)Ggc>Agc	p.G429S	MICALL2_ENST00000405088.4_Missense_Mutation_p.G217S	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	429						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		AGGCTGGTGCCGGGGGGCACT	0.632													5	58					0	0	1	0	0	T	1484421	C	T	1484421	3	4	252	1	0	0	0	0	1	0	0	0	9622	652	23	1	1477	1	MICALL2	7	1484421	Missense_Mutation	SNP	C	TCGA-KK-A6E4-01A-11D-A30E-08		1484421	157654242	19	13234											
C7orf10	79783	broad.mit.edu	37	chr7	40900013	40900013	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcctgaaggaggtcctgagaTacgatgacagggccatcggg	10	7	15	9	2	0	3	0	3	0	1	3	6	2	4	3	4	1	0	3	4	2	1			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr7:40900013T>C	ENST00000309930.5	+	15	1375	c.1351T>C	c.(1351-1353)Tac>Cac	p.Y451H	C7orf10_ENST00000401647.2_Missense_Mutation_p.Y377H|C7orf10_ENST00000464028.1_3'UTR|C7orf10_ENST00000335693.4_Missense_Mutation_p.Y425H	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	Q9HAC7	CG010_HUMAN	chromosome 7 open reading frame 10	425							transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						GGTCCTGAGATACGATGACAG	0.572													6	181					0	0	1	0	0	C	40900013	T	C	40900013	3	2	252	1	0	0	0	0	1	0	0	0	2392	1406	49	3	1298	3	C7orf10	7	40900013	Missense_Mutation	SNP	T	TCGA-KK-A6E4-01A-11D-A30E-08	39415592	40900013	118238650	20	13235											
GNAI1	2770	broad.mit.edu	37	chr7	79842101	79842101	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggtttacagatacatccAttatactttttctaaacaag	14	15	5	7	0	1	1	0	0	1	1	2	1	2	1	1	1	4	1	1	1	7	8			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr7:79842101A>G	ENST00000351004.3	+	7	1163	c.790A>G	c.(790-792)Att>Gtt	p.I264V	GNAI1_ENST00000457358.2_Missense_Mutation_p.I212V	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1	264					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody|nucleus	G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						AGATACATCCATTATACTTTT	0.323													39	45					0	0	1	0	0	G	79842101	A	G	79842101	3	3	252	1	0	0	0	0	1	0	0	0	6546	217	8	3	816	3	GNAI1	7	79842101	Missense_Mutation	SNP	A	TCGA-KK-A6E4-01A-11D-A30E-08	38942088	79842101	79296562	21	13236											
ZNF804B	219578	broad.mit.edu	37	chr7	88964976	88964976	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcccatgaagtgtaactccGggaatatcagctgccttcta	10	10	10	11	1	2	1	1	1	1	0	3	2	3	2	3	2	3	2	3	2	5	4			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr7:88964976G>A	ENST00000333190.4	+	4	3289	c.2680G>A	c.(2680-2682)Ggg>Agg	p.G894R		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	894						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GTGTAACTCCGGGAATATCAG	0.438										HNSCC(36;0.09)			39	71					0	0	1	0	0	A	88964976	G	A	88964976	3	1	252	1	0	0	0	0	1	0	0	0	18220	1116	39	1	2694	1	ZNF804B	7	88964976	Missense_Mutation	SNP	G	TCGA-KK-A6E4-01A-11D-A30E-08	9122875	88964976	70173687	22	13237											
EXTL3	2137	broad.mit.edu	37	chr8	28573785	28573785	+	Missense_Mutation	SNP	G	G	A																															gatttttggtccccgggtggGgaacgagctgtgcgaggtga																										TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr8:28573785G>A	ENST00000220562.4	+	3	1111	c.209G>A	c.(208-210)gGg>gAg	p.G70E	EXTL3_ENST00000523149.1_Intron|EXTL3_ENST00000519886.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	70						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		CCCCGGGTGGGGAACGAGCTG	0.597													24	16					0	0	1	0	0	A	28573785	G	A	28573785	3	1	252	1	0	0	0	0	1	0	0	0	5355	1232	43	2	211	2	EXTL3	8	28573785	Missense_Mutation	SNP	G	TCGA-KK-A6E4-01A-11D-A30E-08		28573785	117790237	23	13238	67	2									
EXTL3	2137	broad.mit.edu	37	chr8	28573786	28573786	+	Silent	SNP	G	G	A																															atttttggtccccgggtgggGaacgagctgtgcgaggtgaa																										TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr8:28573786G>A	ENST00000220562.4	+	3	1112	c.210G>A	c.(208-210)ggG>ggA	p.G70G	EXTL3_ENST00000523149.1_Intron|EXTL3_ENST00000519886.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	70						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		CCCGGGTGGGGAACGAGCTGT	0.597													24	16					0	0	1	0	0	A	28573786	G	A	28573786	2	1	252	1	0	0	0	0	0	0	0	1	5355	1161	41	2		2	EXTL3	8	28573786	Silent	SNP	G	TCGA-KK-A6E4-01A-11D-A30E-08	1	28573786	117790236	24	13239	67	2									
CSPP1	79848	broad.mit.edu	37	chr8	68105709	68105709	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaactacaggatagcagtcGtcctaatgtagcaccagatg	13	9	9	10	1	0	1	0	0	0	1	2	2	1	2	2	1	4	3	2	1	5	5			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr8:68105709G>A	ENST00000262210.5	+	28	3357	c.3326G>A	c.(3325-3327)cGt>cAt	p.R1109H	ARFGEF1_ENST00000520381.1_Intron|CSPP1_ENST00000521168.1_Intron|CSPP1_ENST00000412460.1_Missense_Mutation_p.R764H	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	1144						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			GATAGCAGTCGTCCTAATGTA	0.403													8	47					0	0	1	0	0	A	68105709	G	A	68105709	3	1	252	1	0	0	0	0	1	0	0	0	3987	1145	40	1	3549	1	CSPP1	8	68105709	Missense_Mutation	SNP	G	TCGA-KK-A6E4-01A-11D-A30E-08	39531923	68105709	78258313	25	13240											
RAD21	5885	broad.mit.edu	37	chr8	117868410	117868410	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggttcatatgcttaccagttAtatcaataggctccaatgca	12	13	7	9	0	2	0	2	0	0	0	3	0	3	0	2	2	3	5	2	2	7	6			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr8:117868410A>T	ENST00000297338.2	-	8	1219	c.932T>A	c.(931-933)aTa>aAa	p.I311K		NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	311	Interaction with WAPAL and PDS5B.				apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					CTTACCAGTTATATCAATAGG	0.388													45	73					0	0	1	0	0	T	117868410	A	T	117868410	3	4	252	1	0	0	0	0	1	0	0	0	13033	449	16	5	991	5	RAD21	8	117868410	Missense_Mutation	SNP	A	TCGA-KK-A6E4-01A-11D-A30E-08	49762701	117868410	28495612	26	13241											
SLC30A8	169026	broad.mit.edu	37	chr8	118169991	118169991	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtgactggcgtgctagtgtaCctggcatgtgagcgcctgct	5	11	15	10	2	0	2	0	2	0	0	0	2	0	2	2	2	4	4	2	2	2	2			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr8:118169991C>T	ENST00000427715.2	+	7	767	c.333C>T	c.(331-333)taC>taT	p.Y111Y	SLC30A8_ENST00000519688.1_Silent_p.Y111Y|SLC30A8_ENST00000456015.2_Silent_p.Y160Y|SLC30A8_ENST00000521243.1_Silent_p.Y111Y	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	160					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			TGCTAGTGTACCTGGCATGTG	0.527													5	230					0	0	1	0	0	T	118169991	C	T	118169991	2	4	252	1	0	0	0	0	0	0	0	1	14616	518	18	2		2	SLC30A8	8	118169991	Silent	SNP	C	TCGA-KK-A6E4-01A-11D-A30E-08	301581	118169991	28194031	27	13242											
PLAA	9373	broad.mit.edu	37	chr9	26926460	26926460	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ataatatacttcaagacactCgccagtgatttgccaccttc	12	12	5	12	1	1	2	1	1	0	1	3	2	1	2	3	0	2	0	3	0	4	6			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr9:26926460C>T	ENST00000397292.3	-	5	1081	c.664G>A	c.(664-666)Gag>Aag	p.E222K	PLAA_ENST00000520884.1_Missense_Mutation_p.E222K	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	222					phospholipid metabolic process|signal transduction		phospholipase A2 activator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		TCAAGACACTCGCCAGTGATT	0.328													31	45					0	0	1	0	0	T	26926460	C	T	26926460	3	4	252	1	0	0	0	0	1	0	0	0	12059	893	31	1	1763	1	PLAA	9	26926460	Missense_Mutation	SNP	C	TCGA-KK-A6E4-01A-11D-A30E-08		26926460	114286971	28	13243											
NOTCH1	4851	broad.mit.edu	37	chr9	139400029	139400029	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcgatcagcggcggggggAtgtcgcgcccggccccaccc	4	4	15	18	6	1	0	1	0	0	0	3	2	1	1	5	5	1	0	5	5	0	0			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr9:139400029A>G	ENST00000277541.6	-	25	4394	c.4319T>C	c.(4318-4320)aTc>aCc	p.I1440T		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1440					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CGGCGGGGGGATGTCGCGCCC	0.677			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			7	28					0	0	1	0	0	G	139400029	A	G	139400029	3	3	252	1	0	0	0	0	1	0	0	0	10594	333	12	3	3388	3	NOTCH1	9	139400029	Missense_Mutation	SNP	A	TCGA-KK-A6E4-01A-11D-A30E-08	112473569	139400029	1813402	29	13244											
CDHR1	92211	broad.mit.edu	37	chr10	85962835	85962835	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacatggcccctgtcttcGtgggcacaccctactatggc	7	9	11	14	1	1	0	0	0	1	0	2	1	1	1	3	4	1	1	3	4	2	3			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr10:85962835G>A	ENST00000372117.3	+	8	842	c.739G>A	c.(739-741)Gtg>Atg	p.V247M	CDHR1_ENST00000332904.3_Missense_Mutation_p.V247M|CDHR1_ENST00000440770.2_Missense_Mutation_p.V6M	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	247	Cadherin 3.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						CCCTGTCTTCGTGGGCACACC	0.617													13	107					0	0	1	0	0	A	85962835	G	A	85962835	3	1	252	1	0	0	0	0	1	0	0	0	3140	1145	40	1	769	1	CDHR1	10	85962835	Missense_Mutation	SNP	G	TCGA-KK-A6E4-01A-11D-A30E-08		85962835	49571912	30	13245											
WDR11	55717	broad.mit.edu	37	chr10	122662580	122662580	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgccaggctctatggtgatGaatcggagctgcacttctgg	7	12	13	9	1	2	2	0	2	2	0	3	3	2	3	1	4	3	3	1	4	2	3			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr10:122662580G>T	ENST00000263461.6	+	23	3013	c.2767G>T	c.(2767-2769)Gaa>Taa	p.E923*	WDR11_ENST00000604509.1_3'UTR	NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN	WD repeat domain 11	923						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						CTATGGTGATGAATCGGAGCT	0.542													8	44					0.000274275	0.000287764	1	1	0	T	122662580	G	T	122662580	4	4	252	1	0	0	0	0	0	1	0	0	17333	1291	45	4	2857	4	WDR11	10	122662580	Nonsense_Mutation	SNP	G	TCGA-KK-A6E4-01A-11D-A30E-08	36699745	122662580	12872167	31	13246											
OR5AS1	219447	broad.mit.edu	37	chr11	55798207	55798207	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactacaaatgtttttcttcGcttcttttgctgatgctgag	7	18	7	9	1	2	2	0	2	2	0	3	2	2	2	0	0	3	4	0	0	2	7			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr11:55798207G>A	ENST00000313555.1	+	1	313	c.313G>A	c.(313-315)Gct>Act	p.A105T		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A105T(1)		endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					GTTTTTCTTCGCTTCTTTTGC	0.463													16	35					0	0	1	0	0	A	55798207	G	A	55798207	3	1	252	1	0	0	0	0	1	0	0	0	11193	1087	38	1	315	1	OR5AS1	11	55798207	Missense_Mutation	SNP	G	TCGA-KK-A6E4-01A-11D-A30E-08		55798207	79208309	32	13247											
BBS10	79738	broad.mit.edu	37	chr12	76740974	76740974	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagtggaaaaaagaggctgaAtggtttctgttactatcacc	14	11	10	6	0	2	2	1	1	1	1	2	3	2	3	1	3	1	3	1	3	7	3			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr12:76740974A>C	ENST00000393262.3	-	2	874	c.791T>G	c.(790-792)aTt>aGt	p.I264S		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	264					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						AAGAGGCTGAATGGTTTCTGT	0.393									Bardet-Biedl syndrome				5	34					0	0	1	0	0	C	76740974	A	C	76740974	3	2	252	1	0	0	0	0	1	0	0	0	1334	101	4	5	1384	5	BBS10	12	76740974	Missense_Mutation	SNP	A	TCGA-KK-A6E4-01A-11D-A30E-08		76740974	57110921	33	13248											
FRY	10129	broad.mit.edu	37	chr13	32818263	32818263	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctacatggacctttctgtcGttcctgtcaaacagttcaat	9	14	7	11	1	3	0	2	0	1	0	5	1	4	1	2	1	2	3	2	1	3	4			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr13:32818263G>A	ENST00000380250.3	+	47	7268	c.6772G>A	c.(6772-6774)Gtt>Att	p.V2258I		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2258					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CCTTTCTGTCGTTCCTGTCAA	0.473													13	49					0	0	1	0	0	A	32818263	G	A	32818263	3	1	252	1	0	0	0	0	1	0	0	0	6098	1145	40	1	6958	1	FRY	13	32818263	Missense_Mutation	SNP	G	TCGA-KK-A6E4-01A-11D-A30E-08		32818263	82351615	34	13249											
OR4K5	79317	broad.mit.edu	37	chr14	20389698	20389698	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacctgaggccaaggagaatTtctgaaatgtcactagtagt	13	11	10	7	0	2	3	1	2	1	1	2	4	2	3	2	2	1	1	2	2	6	4			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr14:20389698T>A	ENST00000315915.4	+	1	958	c.933T>A	c.(931-933)atT>atA	p.I311I		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CAAGGAGAATTTCTGAAATGT	0.368													36	44					0	0	1	0	0	A	20389698	T	A	20389698	2	1	252	1	0	0	0	0	0	0	0	1	11121	1829	64	5		5	OR4K5	14	20389698	Silent	SNP	T	TCGA-KK-A6E4-01A-11D-A30E-08		20389698	86959842	35	13250											
PCNX	22990	broad.mit.edu	37	chr14	71445025	71445026	+	Frame_Shift_Del	DEL	AC	AC	-																															gaaaggggcacagactctgaAcacacacacaaagctcattt																								rs142489415	by1000genomes	TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr14:71445025_71445026delAC	ENST00000304743.2	+	6	2417_2418	c.1971_1972delAC	c.(1969-1974)gaacfs	p.EH657fs	PCNX_ENST00000238570.5_Frame_Shift_Del_p.EH657fs|PCNX_ENST00000439984.3_Frame_Shift_Del_p.EH657fs	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	657						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CAGACTCTGAACACACACACAA	0.485													7	216	---	---	---	---						-	71445026	AC	-	71445025	7	5	252	1	0	1	0	1	0	0	0	0	11638	40	2	0	1993	0	PCNX	14	71445025	Frame_Shift_Del	DEL	AC	TCGA-KK-A6E4-01A-11D-A30E-08	51055327	71445025	35904515	36	13251											
ARNT2	9915	broad.mit.edu	37	chr15	80873662	80873662	+	Frame_Shift_Del	DEL	C	C	-																															ctacccggcagacccctcttCctacagccccctctccagcc																										TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr15:80873662delC	ENST00000533983.1	+	18	2141	c.1802delC	c.(1801-1803)tcfs	p.S601fs	ARNT2_ENST00000303329.4_Frame_Shift_Del_p.S612fs|ARNT2_ENST00000527771.1_Frame_Shift_Del_p.S601fs			Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	612					central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			GACCCCTCTTCCTACAGCCCC	0.572													19	84	---	---	---	---						-	80873662	C	-	80873662	7	5	252	1	0	1	0	1	0	0	0	0	965	855	30	0	1901	0	ARNT2	15	80873662	Frame_Shift_Del	DEL	C	TCGA-KK-A6E4-01A-11D-A30E-08		80873662	21657730	37	13252											
DNAH2	146754	broad.mit.edu	37	chr17	7680922	7680922	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gatgtcaattcctttgactgGctcagccaacttcggttcta	8	14	8	11	1	3	1	2	1	1	0	5	2	4	1	2	2	2	2	2	2	3	5			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr17:7680922G>A	ENST00000572933.1	+	33	6677	c.5217G>A	c.(5215-5217)tgG>tgA	p.W1739*	DNAH2_ENST00000389173.2_Nonsense_Mutation_p.W1739*			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1739	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCTTTGACTGGCTCAGCCAAC	0.478													5	422					0	0	1	0	0	A	7680922	G	A	7680922	4	1	252	1	0	0	0	0	0	1	0	0	4630	1212	42	2	5343	2	DNAH2	17	7680922	Nonsense_Mutation	SNP	G	TCGA-KK-A6E4-01A-11D-A30E-08		7680922	73514288	38	13253											
MYO15A	51168	broad.mit.edu	37	chr17	18023246	18023246	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctacggagtccactacaccGtcccctatgccgaaggcgtc	8	7	9	17	4	0	0	0	0	0	0	3	2	2	1	6	2	3	0	6	2	4	3			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr17:18023246G>A	ENST00000205890.5	+	2	1470	c.1132G>A	c.(1132-1134)Gtc>Atc	p.V378I		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	378	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CCACTACACCGTCCCCTATGC	0.597													47	99					0	0	1	0	0	A	18023246	G	A	18023246	3	1	252	1	0	0	0	0	1	0	0	0	10111	1145	40	1	1134	1	MYO15A	17	18023246	Missense_Mutation	SNP	G	TCGA-KK-A6E4-01A-11D-A30E-08	10342324	18023246	63171964	39	13254											
PLEKHH3	79990	broad.mit.edu	37	chr17	40822621	40822621	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaaaggcagttcgtgaccGtctggggacagcccctcagg	9	6	15	11	2	2	1	1	1	1	0	3	3	2	3	3	5	1	2	3	5	1	1			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr17:40822621G>A	ENST00000293349.6	-	10	1945	c.1515C>T	c.(1513-1515)gaC>gaT	p.D505D	PLEKHH3_ENST00000456950.2_5'UTR|PLEKHH3_ENST00000591022.1_Silent_p.D508D|PLEKHH3_ENST00000412503.1_Silent_p.D505D			Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	508	FERM.				signal transduction	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		GTTCGTGACCGTCTGGGGACA	0.627													5	88					0	0	1	0	0	A	40822621	G	A	40822621	2	1	252	1	0	0	0	0	0	0	0	1	12126	1136	40	1		1	PLEKHH3	17	40822621	Silent	SNP	G	TCGA-KK-A6E4-01A-11D-A30E-08	22799375	40822621	40372589	40	13255											
SPIB	6689	broad.mit.edu	37	chr19	50926944	50926944	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgttggacagccctgcccTggaggtctcggacagcgagt	7	7	14	13	3	1	0	0	0	1	0	2	4	1	3	3	4	3	1	3	4	0	1			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr19:50926944T>G	ENST00000595883.1	+	5	447	c.422T>G	c.(421-423)cTg>cGg	p.L141R	SPIB_ENST00000270632.7_Missense_Mutation_p.L141R|SPIB_ENST00000596074.1_Silent_p.P69P|SPIB_ENST00000439922.2_Missense_Mutation_p.L50R|SPIB_ENST00000597855.1_Silent_p.P129P	NM_001243999.1|NM_001244000.1|NM_003121.4	NP_001230928.1|NP_001230929.1|NP_003112.2	Q01892	SPIB_HUMAN	Spi-B transcription factor (Spi-1/PU.1 related)	141					regulation of transcription from RNA polymerase II promoter	cytoplasm|microtubule cytoskeleton|nucleus	sequence-specific DNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)	14		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		AGCCCTGCCCTGGAGGTCTCG	0.667													13	24					0	0	1	0	0	G	50926944	T	G	50926944	3	3	252	1	0	0	0	0	1	0	0	0	15106	1580	55	5	440	5	SPIB	19	50926944	Missense_Mutation	SNP	T	TCGA-KK-A6E4-01A-11D-A30E-08		50926944	8202039	41	13256											
ZNF432	9668	broad.mit.edu	37	chr19	52537922	52537922	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttctctcctgtatgagttCgctgatgtataataagcatg	9	15	9	8	1	1	2	0	2	1	0	4	2	2	2	1	0	1	6	1	0	4	6			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr19:52537922C>A	ENST00000594154.1	-	5	1222	c.1010G>T	c.(1009-1011)cGa>cTa	p.R337L	ZNF432_ENST00000221315.5_Missense_Mutation_p.R337L			O94892	ZN432_HUMAN	zinc finger protein 432	337					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TGTATGAGTTCGCTGATGTAT	0.408													4	124					0.150653	0.150653	1	1	0	A	52537922	C	A	52537922	3	1	252	1	0	0	0	0	1	0	0	0	17963	884	31	4	952	4	ZNF432	19	52537922	Missense_Mutation	SNP	C	TCGA-KK-A6E4-01A-11D-A30E-08	1610978	52537922	6591061	42	13257											
PPP2R1A	5518	broad.mit.edu	37	chr19	52723057	52723057	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgtggagctggctgaggaCgccaagtggcgggtgcggct	6	8	19	8	3	0	1	0	1	0	0	0	3	0	3	1	6	2	3	1	6	1	1	rs139139629	byFrequency	TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr19:52723057C>T	ENST00000322088.6	+	10	1300	c.1242C>T	c.(1240-1242)gaC>gaT	p.D414D	PPP2R1A_ENST00000462990.1_Silent_p.D235D|PPP2R1A_ENST00000444322.2_Silent_p.D359D	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	414	PP2A subunit C binding.				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		TGGCTGAGGACGCCAAGTGGC	0.627			Mis		clear cell ovarian carcinoma								23	46					0	0	1	0	0	T	52723057	C	T	52723057	2	4	252	1	0	0	0	0	0	0	0	1	12431	535	19	1		1	PPP2R1A	19	52723057	Silent	SNP	C	TCGA-KK-A6E4-01A-11D-A30E-08	185135	52723057	6405926	43	13258											
GNB1L	0	broad.mit.edu	37	chr22	19789726	19789726	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cggccagaaggagtgggcggGagctgcagtcggcctgcggg	6	4	21	10	4	0	1	0	0	0	1	1	3	0	3	2	6	3	2	2	6	1	0			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr22:19789726G>T	ENST00000329517.6	-	7	766	c.530C>A	c.(529-531)tCc>tAc	p.S177Y	GNB1L_ENST00000403325.1_Missense_Mutation_p.S177Y|GNB1L_ENST00000460402.1_5'UTR|GNB1L_ENST00000405009.1_Missense_Mutation_p.S177Y	NM_053004.2	NP_443730.1	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1-like	177					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular				breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					GAGTGGGCGGGAGCTGCAGTC	0.637													14	65					1.05317e-09	1.16212e-09	1	1	0	T	19789726	G	T	19789726	3	4	252	1	0	0	0	0	1	0	0	0	6558	1174	41	4	461	4	GNB1L	22	19789726	Missense_Mutation	SNP	G	TCGA-KK-A6E4-01A-11D-A30E-08		19789726	31514840	44	13259											
PI4KA	5297	broad.mit.edu	37	chr22	21083999	21083999	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggttggttttcttagacatgCctaggaggaaagacaaagca	13	10	12	6	0	1	2	0	0	1	2	1	4	1	4	1	4	2	3	1	4	4	5			TCGA-KK-A6E4-01A-11D-A30E-08	TCGA-KK-A6E4-11A-11D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40596942-42c7-4514-8bf8-a5290015cfd8	03842b93-be03-4e34-a1c4-c29aa2f3a1ec	g.chr22:21083999C>A	ENST00000255882.6	-	38	4495	c.4408_splice	c.e38-1	p.G1470_splice	PI4KA_ENST00000572273.1_Splice_Site_p.G1412_splice|PI4KA_ENST00000414196.3_Splice_Site_p.G222_splice	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1412					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CTTAGACATGCCTAGGAGGAA	0.537													4	6					4.096e-09	4.44312e-09	1	1	0	A	21083999	C	A	21083999	5	1	252	1	0	0	0	0	0	0	1	0	11921	753	26	4	1971	4	PI4KA	22	21083999	Splice_Site	SNP	C	TCGA-KK-A6E4-01A-11D-A30E-08	1294273	21083999	30220567	45	13260											
SESN2	83667	broad.mit.edu	37	chr1	28598206	28598206	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttcgggagggggctgagAgcctcgagcagcacctgggg	6	6	18	11	2	0	1	0	1	0	1	3	4	1	2	3	5	3	3	3	5	0	1			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr1:28598206A>C	ENST00000253063.3	+	3	499	c.178A>C	c.(178-180)Agc>Cgc	p.S60R		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	60					cell cycle arrest	cytoplasm|nucleus				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		GGGGGCTGAGAGCCTCGAGCA	0.592													5	61					0	0	1	0	0	C	28598206	A	C	28598206	3	2	253	1	0	0	0	0	1	0	0	0	14179	304	11	5	188	5	SESN2	1	28598206	Missense_Mutation	SNP	A	TCGA-KK-A6E5-01A-11D-A30X-08		28598206	220652415	1	13261											
ELOVL1	64834	broad.mit.edu	37	chr1	43830879	43830879	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catagacaatgtagagggagAgtgccaccagtgagaagttg	14	7	14	6	0	0	4	0	1	0	4	0	6	0	4	2	1	1	2	2	1	4	3			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr1:43830879A>T	ENST00000372458.3	-	3	332	c.215T>A	c.(214-216)cTc>cAc	p.L72H	ELOVL1_ENST00000413844.2_Missense_Mutation_p.L72H|ELOVL1_ENST00000470769.1_5'UTR	NM_001256399.1|NM_001256402.1|NM_022821.3	NP_001243328.1|NP_001243331.1|NP_073732.1	Q9BW60	ELOV1_HUMAN	ELOVL fatty acid elongase 1	72					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|sphingolipid biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|prostate(1)	4	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GTAGAGGGAGAGTGCCACCAG	0.532													12	24					0	0	1	0	0	T	43830879	A	T	43830879	3	4	253	1	0	0	0	0	1	0	0	0	5101	304	11	5	648	5	ELOVL1	1	43830879	Missense_Mutation	SNP	A	TCGA-KK-A6E5-01A-11D-A30X-08	15232673	43830879	205419742	2	13262											
SCYL3	57147	broad.mit.edu	37	chr1	169839411	169839411	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcaccctgttcatttaagaTtgtgagcaaactttccacca	11	13	5	12	0	2	2	2	1	0	1	3	2	3	2	3	0	2	2	3	0	2	5			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr1:169839411T>G	ENST00000367772.4	-	6	807	c.610A>C	c.(610-612)Atc>Ctc	p.I204L	SCYL3_ENST00000367770.1_Missense_Mutation_p.I204L|SCYL3_ENST00000470238.1_5'UTR|SCYL3_ENST00000367771.5_Missense_Mutation_p.I204L	NM_181093.3	NP_851607.2	Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	204	Protein kinase.				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TCATTTAAGATTGTGAGCAAA	0.408													9	63					0	0	1	0	0	G	169839411	T	G	169839411	3	3	253	1	0	0	0	0	1	0	0	0	14003	1493	52	5	1654	5	SCYL3	1	169839411	Missense_Mutation	SNP	T	TCGA-KK-A6E5-01A-11D-A30X-08	126008532	169839411	79411210	3	13263											
FAM179A	165186	broad.mit.edu	37	chr2	29268261	29268261	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgtgcggtgctggatgtcAcagatcgcctggcaggtgag	6	8	17	10	3	1	2	1	1	0	1	2	3	1	3	2	4	2	2	2	4	0	0			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr2:29268261A>T	ENST00000379558.4	+	19	3058	c.2707A>T	c.(2707-2709)Aca>Tca	p.T903S	FAM179A_ENST00000403861.2_Missense_Mutation_p.T848S|FAM179A_ENST00000465300.1_3'UTR	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	903							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GCTGGATGTCACAGATCGCCT	0.587													11	80					0	0	1	0	0	T	29268261	A	T	29268261	3	4	253	1	0	0	0	0	1	0	0	0	5535	159	6	5	2777	5	FAM179A	2	29268261	Missense_Mutation	SNP	A	TCGA-KK-A6E5-01A-11D-A30X-08		29268261	213931112	4	13264											
WNT6	7475	broad.mit.edu	37	chr2	219735845	219735845	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagttgtgccaggctgagccGgaagtggtggcagagctagc	8	7	18	8	1	0	2	0	1	0	1	0	4	0	3	2	4	4	4	2	4	2	2			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr2:219735845G>A	ENST00000233948.3	+	2	394	c.177G>A	c.(175-177)ccG>ccA	p.P59P	WNT6_ENST00000486233.1_Intron	NM_006522.3	NP_006513.1	Q9Y6F9	WNT6_HUMAN	wingless-type MMTV integration site family, member 6	59					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			large_intestine(1)|ovary(2)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGCTGAGCCGGAAGTGGTGG	0.687													5	186					0	0	1	0	0	A	219735845	G	A	219735845	2	1	253	1	0	0	0	0	0	0	0	1	17453	1103	39	1		1	WNT6	2	219735845	Silent	SNP	G	TCGA-KK-A6E5-01A-11D-A30X-08	190467584	219735845	23463528	5	13265											
GIGYF2	26058	broad.mit.edu	37	chr2	233655777	233655777	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacttccggcctgtggacgaAggggaggagtgctctgactc	7	8	16	10	2	1	1	0	1	1	0	3	6	2	4	2	5	1	1	2	5	1	1			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr2:233655777A>T	ENST00000373566.3	+	12	1253	c.1056A>T	c.(1054-1056)gaA>gaT	p.E352D	GIGYF2_ENST00000409480.1_Missense_Mutation_p.E352D|GIGYF2_ENST00000452341.2_Missense_Mutation_p.E161D|GIGYF2_ENST00000409451.3_Missense_Mutation_p.E352D|GIGYF2_ENST00000409196.3_Missense_Mutation_p.E324D|GIGYF2_ENST00000373563.4_Missense_Mutation_p.E330D|GIGYF2_ENST00000409547.1_Missense_Mutation_p.E330D			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	330					cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		CTGTGGACGAAGGGGAGGAGT	0.448													3	43					0	0	1	0	0	T	233655777	A	T	233655777	3	4	253	1	0	0	0	0	1	0	0	0	6420	69	3	5	1094	5	GIGYF2	2	233655777	Missense_Mutation	SNP	A	TCGA-KK-A6E5-01A-11D-A30X-08	13919932	233655777	9543596	6	13266											
FILIP1L	11259	broad.mit.edu	37	chr3	99569210	99569210	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagagtagcattcttgtttgCttttgttgaaagcgtcttct	7	18	10	6	1	3	2	0	1	3	1	3	3	3	2	0	0	3	5	0	0	2	8			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr3:99569210C>G	ENST00000331335.5	-	5	1780	c.1310G>C	c.(1309-1311)aGc>aCc	p.S437T	FILIP1L_ENST00000471562.1_Missense_Mutation_p.S197T|FILIP1L_ENST00000487087.1_Missense_Mutation_p.S13T|FILIP1L_ENST00000383694.2_Missense_Mutation_p.S197T|FILIP1L_ENST00000476723.1_Intron|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000354552.3_Missense_Mutation_p.S437T|CMSS1_ENST00000421999.2_Intron	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	437						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						TTCTTGTTTGCTTTTGTTGAA	0.353													5	53					0	0	1	0	0	G	99569210	C	G	99569210	3	3	253	1	0	0	0	0	1	0	0	0	5928	797	28	4	2126	4	FILIP1L	3	99569210	Missense_Mutation	SNP	C	TCGA-KK-A6E5-01A-11D-A30X-08		99569210	98453220	7	13267											
FILIP1L	11259	broad.mit.edu	37	chr3	99649664	99649664	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aataacaggtcatctcttgaGaggtcttctgcttggtggcc	8	13	11	9	0	4	1	1	1	3	1	5	2	4	1	1	4	2	1	1	4	2	4			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr3:99649664G>C	ENST00000331335.5	-	2	671	c.201C>G	c.(199-201)ctC>ctG	p.L67L	FILIP1L_ENST00000398326.2_Silent_p.L67L|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000354552.3_Silent_p.L67L|CMSS1_ENST00000421999.2_Intron	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	67						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						CATCTCTTGAGAGGTCTTCTG	0.512													3	20					0	0	1	0	0	C	99649664	G	C	99649664	2	2	253	1	0	0	0	0	0	0	0	1	5928	929	33	4		4	FILIP1L	3	99649664	Silent	SNP	G	TCGA-KK-A6E5-01A-11D-A30X-08	80454	99649664	98372766	8	13268											
LETM1	3954	broad.mit.edu	37	chr4	1834579	1834579	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgcacagggccaccagctgCggccgtgtcaggttgtccag	6	8	14	13	2	1	0	1	0	0	0	2	0	2	0	4	3	3	3	4	3	0	2			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr4:1834579C>T	ENST00000302787.2	-	6	1268	c.972G>A	c.(970-972)ccG>ccA	p.P324P		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	324	LETM1.				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			CCACCAGCTGCGGCCGTGTCA	0.567													4	92					0	0	1	0	0	T	1834579	C	T	1834579	2	4	253	1	0	0	0	0	0	0	0	1	8773	755	27	1		1	LETM1	4	1834579	Silent	SNP	C	TCGA-KK-A6E5-01A-11D-A30X-08		1834579	189319697	9	13269											
G3BP2	9908	broad.mit.edu	37	chr4	76571629	76571629	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attgatgcgaagttccacaaCgtttccaaaacctgtgaaaa	15	10	7	9	2	0	2	0	2	0	0	2	3	2	2	3	0	3	2	3	0	6	3			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr4:76571629C>T	ENST00000359707.4	-	11	1854	c.1069G>A	c.(1069-1071)Gtt>Att	p.V357I	G3BP2_ENST00000395719.3_Missense_Mutation_p.V357I|G3BP2_ENST00000357854.3_Missense_Mutation_p.V324I	NM_203505.2	NP_987101.1	Q9UN86	G3BP2_HUMAN	GTPase activating protein (SH3 domain) binding protein 2	357	RRM.				cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	27			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			AGTTCCACAACGTTTCCAAAA	0.358													7	191					0	0	1	0	0	T	76571629	C	T	76571629	3	4	253	1	0	0	0	0	1	0	0	0	6177	536	19	1	387	1	G3BP2	4	76571629	Missense_Mutation	SNP	C	TCGA-KK-A6E5-01A-11D-A30X-08	74737050	76571629	114582647	10	13270											
HIST1H2BF	8343	broad.mit.edu	37	chr6	26199817	26199817	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgctaagtccgctcctgctCcaaaaaagggctccaaaaag	13	7	8	13	1	0	0	0	0	0	0	4	0	4	0	4	1	2	4	4	1	6	1	rs80084141		TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr6:26199817C>T	ENST00000359985.1	+	1	70	c.31C>T	c.(31-33)Cca>Tca	p.P11S		NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bf	11					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17		all_hematologic(11;0.196)				CGCTCCTGCTCCAAAAAAGGG	0.483													9	89					0	0	1	0	0	T	26199817	C	T	26199817	3	4	253	1	0	0	0	0	1	0	0	0	7186	855	30	2	33	2	HIST1H2BF	6	26199817	Missense_Mutation	SNP	C	TCGA-KK-A6E5-01A-11D-A30X-08		26199817	144915250	11	13271											
UHRF1BP1	54887	broad.mit.edu	37	chr6	34824168	34824168	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcaccttggagtagactctCtctttcggagaaaagcaggt	10	10	12	9	1	2	2	0	0	2	2	4	4	2	3	1	4	1	3	1	4	3	3			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr6:34824168C>T	ENST00000192788.5	+	10	1444	c.1273C>T	c.(1273-1275)Ctc>Ttc	p.L425F	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.L425F	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	425										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						AGTAGACTCTCTCTTTCGGAG	0.478													17	87					0	0	1	0	0	T	34824168	C	T	34824168	3	4	253	1	0	0	0	0	1	0	0	0	17028	913	32	2	1311	2	UHRF1BP1	6	34824168	Missense_Mutation	SNP	C	TCGA-KK-A6E5-01A-11D-A30X-08	8624351	34824168	136290899	12	13272											
PGK2	5232	broad.mit.edu	37	chr6	49754653	49754653	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagcaaggatttgagctcaAcagcaacaggtgctaaggaa	15	6	11	9	0	1	1	1	1	0	0	1	3	1	3	1	3	6	4	1	3	5	2			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr6:49754653A>G	ENST00000304801.3	-	1	400	c.248T>C	c.(247-249)gTt>gCt	p.V83A		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	83					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					TTTGAGCTCAACAGCAACAGG	0.517													15	90					0	0	1	0	0	G	49754653	A	G	49754653	3	3	253	1	0	0	0	0	1	0	0	0	11839	43	2	3	1009	3	PGK2	6	49754653	Missense_Mutation	SNP	A	TCGA-KK-A6E5-01A-11D-A30X-08	14930485	49754653	121360414	13	13273											
KCNQ5	56479	broad.mit.edu	37	chr6	73830210	73830210	+	Frame_Shift_Del	DEL	T	T	-																															tctatgccacatgcagtgtgTttggcgtagttacgcagctg																										TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr6:73830210delT	ENST00000342056.2	+	8	1528	c.1130delT	c.(1129-1131)gtfs	p.V377fs	KCNQ5_ENST00000402622.2_Frame_Shift_Del_p.V377fs|KCNQ5_ENST00000370392.1_Frame_Shift_Del_p.V377fs|KCNQ5_ENST00000370398.1_Frame_Shift_Del_p.V377fs|KCNQ5_ENST00000355635.3_Frame_Shift_Del_p.V377fs|KCNQ5_ENST00000355194.4_Frame_Shift_Del_p.V377fs|KCNQ5_ENST00000414165.2_Frame_Shift_Del_p.V377fs|KCNQ5_ENST00000403813.2_Frame_Shift_Del_p.V377fs	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	377					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		ATGCAGTGTGTTTGGCGTAGT	0.413													8	26	---	---	---	---						-	73830210	T	-	73830210	7	5	253	1	0	1	0	1	0	0	0	0	8130	1725	60	0	1160	0	KCNQ5	6	73830210	Frame_Shift_Del	DEL	T	TCGA-KK-A6E5-01A-11D-A30X-08	24075557	73830210	97284857	14	13274											
VTA1	51534	broad.mit.edu	37	chr6	142490757	142490757	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgtgcccatttggagaattAtgctttgaaaatgtttttgt	9	18	9	5	0	0	2	0	1	0	1	0	3	0	2	1	1	2	2	1	1	4	5			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr6:142490757A>T	ENST00000367630.4	+	3	336	c.278A>T	c.(277-279)tAt>tTt	p.Y93F	VTA1_ENST00000452973.2_Missense_Mutation_p.Y35F|VTA1_ENST00000367621.1_Missense_Mutation_p.Y35F	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1	93	Interaction with IST1.				cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding			endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		TTGGAGAATTATGCTTTGAAA	0.303													3	29					0	0	1	0	0	T	142490757	A	T	142490757	3	4	253	1	0	0	0	0	1	0	0	0	17293	449	16	5	288	5	VTA1	6	142490757	Missense_Mutation	SNP	A	TCGA-KK-A6E5-01A-11D-A30X-08	68660547	142490757	28624310	15	13275											
KCNT1	57582	broad.mit.edu	37	chr9	138657479	138657479	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggccggcaggactattacGtggtcatcctgtgccccacg	6	9	12	14	3	1	0	1	0	0	0	2	1	2	1	4	4	2	1	4	4	2	2			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr9:138657479G>A	ENST00000298480.5	+	13	1284	c.1210G>A	c.(1210-1212)Gtg>Atg	p.V404M	KCNT1_ENST00000488444.2_Missense_Mutation_p.V385M|KCNT1_ENST00000491806.2_Missense_Mutation_p.V371M|KCNT1_ENST00000263604.3_Missense_Mutation_p.V385M|KCNT1_ENST00000371757.2_Missense_Mutation_p.V404M|KCNT1_ENST00000487664.1_Missense_Mutation_p.V359M|KCNT1_ENST00000486577.2_Missense_Mutation_p.V365M|KCNT1_ENST00000490355.2_Missense_Mutation_p.V385M			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	404						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GGACTATTACGTGGTCATCCT	0.662													7	20					0	0	1	0	0	A	138657479	G	A	138657479	3	1	253	1	0	0	0	0	1	0	0	0	8135	1145	40	1	1260	1	KCNT1	9	138657479	Missense_Mutation	SNP	G	TCGA-KK-A6E5-01A-11D-A30X-08		138657479	2555952	16	13276											
SIK3	23387	broad.mit.edu	37	chr11	116729350	116729350	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggaaccccgggactggtccGaaaacagatgggggtgtaaa	12	5	16	8	2	0	1	0	0	0	1	1	4	1	3	3	5	2	1	3	5	5	1			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr11:116729350G>A	ENST00000375300.1	-	20	2692	c.2687C>T	c.(2686-2688)tCg>tTg	p.S896L	SIK3_ENST00000542607.1_Intron|SIK3_ENST00000488337.1_Intron|SIK3_ENST00000446921.2_Intron|SIK3_ENST00000292055.4_Missense_Mutation_p.S838L|SIK3_ENST00000434315.2_Intron|SIK3_ENST00000375288.1_Intron			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	838	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						GGACTGGTCCGAAAACAGATG	0.557													4	106					0	0	1	0	0	A	116729350	G	A	116729350	3	1	253	1	0	0	0	0	1	0	0	0	14374	1059	37	1	1294	1	SIK3	11	116729350	Missense_Mutation	SNP	G	TCGA-KK-A6E5-01A-11D-A30X-08		116729350	18277166	17	13277											
FRS2	10818	broad.mit.edu	37	chr12	69968695	69968695	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccacgagatgatggtacatCtaggaaaactagacacaata	17	7	9	8	1	1	3	0	1	1	2	1	5	1	4	1	2	2	1	1	2	7	4			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr12:69968695C>G	ENST00000299293.2	+	10	1997	c.1487C>G	c.(1486-1488)tCt>tGt	p.S496C	FRS2_ENST00000550389.1_Missense_Mutation_p.S496C|FRS2_ENST00000549921.1_Missense_Mutation_p.S496C|FRS2_ENST00000397997.2_Missense_Mutation_p.S496C	NM_001278351.1|NM_006654.3	NP_001265280.1|NP_006645.3	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	496					activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GATGGTACATCTAGGAAAACT	0.443													16	77					0	0	1	0	0	G	69968695	C	G	69968695	3	3	253	1	0	0	0	0	1	0	0	0	6096	913	32	4	1505	4	FRS2	12	69968695	Missense_Mutation	SNP	C	TCGA-KK-A6E5-01A-11D-A30X-08		69968695	63883200	18	13278											
ZDHHC17	23390	broad.mit.edu	37	chr12	77202835	77202835	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcttatagatactatatttcGaaaggtgctattgtggatca	12	16	8	5	1	2	1	1	0	1	1	3	3	2	2	0	2	2	1	0	2	7	8			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr12:77202835G>A	ENST00000426126.2	+	4	982	c.333G>A	c.(331-333)tcG>tcA	p.S111S	ZDHHC17_ENST00000359019.4_Silent_p.S61S|ZDHHC17_ENST00000334822.5_Silent_p.S111S	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	111					lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						ACTATATTTCGAAAGGTGCTA	0.289													3	30					0	0	1	0	0	A	77202835	G	A	77202835	2	1	253	1	0	0	0	0	0	0	0	1	17665	1045	37	1		1	ZDHHC17	12	77202835	Silent	SNP	G	TCGA-KK-A6E5-01A-11D-A30X-08	7234140	77202835	56649060	19	13279											
KERA	11081	broad.mit.edu	37	chr12	91449954	91449954	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cactcgaagtcatgaatagtCcaatcatctgaatcatgtac	14	11	6	10	1	4	2	3	2	1	0	6	3	5	2	1	0	1	1	1	0	6	2			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr12:91449954C>A	ENST00000266719.3	-	2	352	c.105G>T	c.(103-105)tgG>tgT	p.W35C		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	35	LRRNT.				response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						CATGAATAGTCCAATCATCTG	0.413													10	48					1.76689e-08	1.86786e-08	1	1	0	A	91449954	C	A	91449954	3	1	253	1	0	0	0	0	1	0	0	0	8186	856	30	4	961	4	KERA	12	91449954	Missense_Mutation	SNP	C	TCGA-KK-A6E5-01A-11D-A30X-08	14247119	91449954	42401941	20	13280											
UTP20	27340	broad.mit.edu	37	chr12	101720875	101720875	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcagaattttgtatgggcgaAtgaagaataagactgggagt	14	11	13	3	1	1	4	1	1	0	3	1	6	1	5	0	2	0	1	0	2	6	4			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr12:101720875A>G	ENST00000261637.4	+	26	3232	c.3058A>G	c.(3058-3060)Atg>Gtg	p.M1020V		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1020					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GTATGGGCGAATGAAGAATAA	0.433													30	49					0	0	1	0	0	G	101720875	A	G	101720875	3	3	253	1	0	0	0	0	1	0	0	0	17159	101	4	3	3160	3	UTP20	12	101720875	Missense_Mutation	SNP	A	TCGA-KK-A6E5-01A-11D-A30X-08	10270921	101720875	32131020	21	13281											
GLDN	342035	broad.mit.edu	37	chr15	51696486	51696486	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tatttcagatttgaatttggCcaggaaacatcccaaactct	13	13	6	9	0	2	2	1	1	1	1	3	3	3	3	2	2	2	0	2	2	4	4			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr15:51696486C>T	ENST00000335449.6	+	10	1247	c.1191C>T	c.(1189-1191)ggC>ggT	p.G397G	GLDN_ENST00000396399.2_Silent_p.G273G	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	397	Olfactomedin-like.				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		TTGAATTTGGCCAGGAAACAT	0.358													4	128					0	0	1	0	0	T	51696486	C	T	51696486	2	4	253	1	0	0	0	0	0	0	0	1	6476	726	26	2		2	GLDN	15	51696486	Silent	SNP	C	TCGA-KK-A6E5-01A-11D-A30X-08		51696486	50834906	22	13282											
NARG2	79664	broad.mit.edu	37	chr15	60745782	60745782	+	Frame_Shift_Del	DEL	A	A	-																															aagtacattccccttaggggAaaaaaaaagcattacatacg																										TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr15:60745782delA	ENST00000561114.1	-	9	1307	c.1145delT	c.(1144-1146)tcfs	p.F382fs	NARG2_ENST00000439632.1_Intron|NARG2_ENST00000261520.4_Intron	NM_001276385.1	NP_001263314.1	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2	0						nucleus				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						CCCTTAGGGGAAAAAAAAAGC	0.338													8	26	---	---	---	---						-	60745782	A	-	60745782	7	5	253	1	0	1	0	1	0	0	0	0	10217	261	9	0		0	NARG2	15	60745782	Frame_Shift_Del	DEL	A	TCGA-KK-A6E5-01A-11D-A30X-08	9049296	60745782	41785610	23	13283											
FAM83G	644815	broad.mit.edu	37	chr17	18874966	18874966	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttctggtagagctctggacGctgtcagcagcagagcggta	8	10	14	9	2	3	2	1	0	2	2	3	3	3	3	0	3	4	6	0	3	2	3			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr17:18874966G>A	ENST00000388995.6	-	6	2401	c.2178C>T	c.(2176-2178)agC>agT	p.S726S	SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000417251.2_Intron|FAM83G_ENST00000585154.2_Silent_p.S726S|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395647.2_Intron|FAM83G_ENST00000345041.4_Silent_p.S726S			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	726										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						AGCTCTGGACGCTGTCAGCAG	0.647													4	63					0	0	1	0	0	A	18874966	G	A	18874966	2	1	253	1	0	0	0	0	0	0	0	1	5671	1078	38	1		1	FAM83G	17	18874966	Silent	SNP	G	TCGA-KK-A6E5-01A-11D-A30X-08		18874966	62320244	24	13284											
HEATR6	63897	broad.mit.edu	37	chr17	58134531	58134531	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaatgcagagtcgaatgaGccagcagggctctgaagacc	13	5	14	9	1	1	4	0	2	1	2	2	6	1	5	2	2	3	3	2	2	3	0	rs117309766	by1000genomes	TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr17:58134531G>A	ENST00000184956.6	-	12	1973	c.1957C>T	c.(1957-1959)Ctc>Ttc	p.L653F	HEATR6_ENST00000585976.1_Missense_Mutation_p.L653F	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	653							binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			AGTCGAATGAGCCAGCAGGGC	0.557													7	110					0	0	1	0	0	A	58134531	G	A	58134531	3	1	253	1	0	0	0	0	1	0	0	0	7074	971	34	2	1624	2	HEATR6	17	58134531	Missense_Mutation	SNP	G	TCGA-KK-A6E5-01A-11D-A30X-08	39259565	58134531	23060679	25	13285											
ERG	2078	broad.mit.edu	37	chr21	39755838	39755838	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aactgccaaagctggatctgGccactgcctaatgaggtcag	11	8	11	11	0	2	1	1	1	1	0	2	2	2	2	3	3	4	1	3	3	3	1			TCGA-KK-A6E5-01A-11D-A30X-08	TCGA-KK-A6E5-11A-12D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a313eac-afe7-4317-ae67-a2eba7cd821f	ae48940c-acd7-4556-ac88-e791eda0f5d0	g.chr21:39755838G>A	ENST00000442448.1	-	11	1147	c.876C>T	c.(874-876)ggC>ggT	p.G292G	ERG_ENST00000398910.1_Silent_p.G293G|ERG_ENST00000288319.7_Silent_p.G309G|ERG_ENST00000398911.1_Silent_p.G292G|ERG_ENST00000398919.2_Silent_p.G316G|ERG_ENST00000417133.2_Silent_p.G316G|ERG_ENST00000398897.1_Silent_p.G193G|ERG_ENST00000398907.1_Silent_p.G286G|ERG_ENST00000453032.2_Silent_p.G217G|ERG_ENST00000398905.1_Silent_p.G285G	NM_004449.4	NP_004440.1	P11308	ERG_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	316					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				GCTGGATCTGGCCACTGCCTA	0.567			T	"EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"	"Ewing sarcoma, prostate, AML"								4	46					0	0	1	0	0	A	39755838	G	A	39755838	2	1	253	1	0	0	0	0	0	0	0	1	5250	1190	42	2		2	ERG	21	39755838	Silent	SNP	G	TCGA-KK-A6E5-01A-11D-A30X-08		39755838	8374057	26	13286											
PER3	8863	broad.mit.edu	37	chr1	7848219	7848219	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggcgtcttctcactttgttGacctgcttgcacctcaagac	6	14	8	13	1	3	2	2	1	2	1	4	2	3	2	2	1	2	3	2	1	1	4			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr1:7848219G>C	ENST00000377532.3	+	4	729	c.505G>C	c.(505-507)Gac>Cac	p.D169H	PER3_ENST00000361923.2_Missense_Mutation_p.D169H|PER3_ENST00000377541.1_Missense_Mutation_p.D169H			P56645	PER3_HUMAN	period circadian clock 3	169	PAS 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		TCACTTTGTTGACCTGCTTGC	0.468													14	54					0	0	1	0	0	C	7848219	G	C	7848219	3	2	254	1	0	0	0	0	1	0	0	0	11778	1290	45	4	519	4	PER3	1	7848219	Missense_Mutation	SNP	G	TCGA-KK-A6E6-01A-11D-A30X-08		7848219	241402402	1	13287			1	31		2	2	50	G		7.597408e-05
PER3	8863	broad.mit.edu	37	chr1	7848268	7848268	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attctacgcgcacactgccaGagctcagcttcctttctgga	8	11	8	14	2	3	1	1	0	2	1	4	2	4	2	2	1	4	3	2	1	1	4			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr1:7848268G>C	ENST00000377532.3	+	4	778	c.554G>C	c.(553-555)aGa>aCa	p.R185T	PER3_ENST00000361923.2_Missense_Mutation_p.R185T|PER3_ENST00000377541.1_Missense_Mutation_p.R185T			P56645	PER3_HUMAN	period circadian clock 3	185	PAS 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		CACACTGCCAGAGCTCAGCTT	0.463													4	45					0	0	1	0	0	C	7848268	G	C	7848268	3	2	254	1	0	0	0	0	1	0	0	0	11778	942	33	4	568	4	PER3	1	7848268	Missense_Mutation	SNP	G	TCGA-KK-A6E6-01A-11D-A30X-08	49	7848268	241402353	2	13288			1	31		2	2	50	G		7.597408e-05
UBE4B	10277	broad.mit.edu	37	chr1	10186877	10186877	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatccccattttacaaggccTggctcttgctgccaaagagt	9	12	8	12	0	1	1	0	0	1	1	2	1	2	1	4	2	3	2	4	2	4	4			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr1:10186877T>C	ENST00000377157.3	+	10	1906	c.845T>C	c.(844-846)cTg>cCg	p.L282P	UBE4B_ENST00000343090.6_Missense_Mutation_p.L527P|UBE4B_ENST00000253251.8_Missense_Mutation_p.L398P|UBE4B_ENST00000475795.1_3'UTR	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN	ubiquitination factor E4B	527					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		TTACAAGGCCTGGCTCTTGCT	0.348													8	66					0	0	1	0	0	C	10186877	T	C	10186877	3	2	254	1	0	0	0	0	1	0	0	0	16944	1580	55	3	1622	3	UBE4B	1	10186877	Missense_Mutation	SNP	T	TCGA-KK-A6E6-01A-11D-A30X-08	2338609	10186877	239063744	3	13289											
KIAA0319L	79932	broad.mit.edu	37	chr1	35921839	35921839	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccatcagagtctactacagtCaagctatcagggcagagaga	14	7	10	10	0	4	3	3	0	1	3	4	4	4	3	1	1	3	2	1	1	4	3			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr1:35921839C>G	ENST00000325722.3	-	10	1665	c.1431G>C	c.(1429-1431)ttG>ttC	p.L477F	KIAA0319L_ENST00000485551.1_5'UTR	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	477	PKD 2.					cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTACTACAGTCAAGCTATCAG	0.473													17	33					0	0	1	0	0	G	35921839	C	G	35921839	3	3	254	1	0	0	0	0	1	0	0	0	8211	825	29	4	1766	4	KIAA0319L	1	35921839	Missense_Mutation	SNP	C	TCGA-KK-A6E6-01A-11D-A30X-08	25734962	35921839	213328782	4	13290											
TIE1	7075	broad.mit.edu	37	chr1	43779603	43779603	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcatccgcagaagctgcctGcatcggagacgcaccttcac	9	7	10	15	3	1	2	1	0	0	2	3	3	2	2	3	1	4	5	3	1	1	1	rs150268802		TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr1:43779603G>T	ENST00000372476.3	+	14	2452	c.2373G>T	c.(2371-2373)ctG>ctT	p.L791L	TIE1_ENST00000433781.2_Silent_p.L436L|TIE1_ENST00000473014.1_3'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	791					mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GAAGCTGCCTGCATCGGAGAC	0.612													6	37					1.26484e-09	1.305e-09	1	1	0	T	43779603	G	T	43779603	2	4	254	1	0	0	0	0	0	0	0	1	15953	1306	46	4		4	TIE1	1	43779603	Silent	SNP	G	TCGA-KK-A6E6-01A-11D-A30X-08	7857764	43779603	205471018	5	13291											
FAM151A	338094	broad.mit.edu	37	chr1	55077406	55077406	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccgaggcagcctgccacagCgtcaggctgtacctggggac	7	6	14	14	2	1	0	1	0	0	0	2	2	2	1	4	4	4	3	4	4	1	1			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr1:55077406C>T	ENST00000302250.2	-	6	973	c.813G>A	c.(811-813)acG>acA	p.T271T	FAM151A_ENST00000371304.2_Silent_p.T271T|ACOT11_ENST00000371316.3_Intron	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	271						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CCTGCCACAGCGTCAGGCTGT	0.597													8	59					0	0	1	0	0	T	55077406	C	T	55077406	2	4	254	1	0	0	0	0	0	0	0	1	5488	755	27	1		1	FAM151A	1	55077406	Silent	SNP	C	TCGA-KK-A6E6-01A-11D-A30X-08	11297803	55077406	194173215	6	13292											
OR10R2	343406	broad.mit.edu	37	chr1	158450409	158450409	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgaggactatcctgaagAttccctcagctgagggcaga	10	10	11	10	0	2	5	1	3	1	2	4	6	4	6	2	2	1	2	2	2	2	3			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr1:158450409A>C	ENST00000368152.1	+	1	742	c.742A>C	c.(742-744)Att>Ctt	p.I248L	RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					TATCCTGAAGATTCCCTCAGC	0.438													10	75					0	0	1	0	0	C	158450409	A	C	158450409	3	2	254	1	0	0	0	0	1	0	0	0	10965	333	12	5	744	5	OR10R2	1	158450409	Missense_Mutation	SNP	A	TCGA-KK-A6E6-01A-11D-A30X-08	103373003	158450409	90800212	7	13293											
PTPRC	5788	broad.mit.edu	37	chr1	198703477	198703477	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcccagggatgaaactgttGatgatttctggaggatgatt	10	13	13	5	0	1	4	0	4	1	0	2	7	2	7	1	3	1	1	1	3	1	3			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr1:198703477G>C	ENST00000367376.2	+	22	2365	c.2194G>C	c.(2194-2196)Gat>Cat	p.D732H	PTPRC_ENST00000348564.6_Missense_Mutation_p.D573H|PTPRC_ENST00000594404.1_Missense_Mutation_p.D571H|PTPRC_ENST00000352140.3_Missense_Mutation_p.D684H|PTPRC_ENST00000442510.2_Missense_Mutation_p.D734H	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	732	Tyrosine-protein phosphatase 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TGAAACTGTTGATGATTTCTG	0.348													14	401					0	0	1	0	0	C	198703477	G	C	198703477	3	2	254	1	0	0	0	0	1	0	0	0	12849	1290	45	4	2287	4	PTPRC	1	198703477	Missense_Mutation	SNP	G	TCGA-KK-A6E6-01A-11D-A30X-08	40253068	198703477	50547144	8	13294											
RBBP5	5929	broad.mit.edu	37	chr1	205068139	205068144	+	In_Frame_Del	DEL	ATCTTC	ATCTTC	-																															gtctgctcaggctcactcttAtcttcatcttcaatatcaaa																										TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr1:205068139_205068144delATCTTC	ENST00000264515.6	-	10	1210_1215	c.1069_1074delGAAGAT	c.(1069-1074)del	p.ED357del	RBBP5_ENST00000367164.1_In_Frame_Del_p.ED357del	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	357					histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding			cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			GCTCACTCTTATCTTCATCTTCAATA	0.35													13	62	---	---	---	---						-	205068144	ATCTTC	-	205068139	7	5	254	1	0	1	0	1	0	0	0	0	13154	446	16	0	562	0	RBBP5	1	205068139	In_Frame_Del	DEL	ATCTTC	TCGA-KK-A6E6-01A-11D-A30X-08	6364662	205068139	44182482	9	13295											
LAMB3	3914	broad.mit.edu	37	chr1	209804013	209804013	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtctccagggccggttgttgTagaagggtgcacagcgctca	7	9	15	10	2	2	1	1	0	1	1	3	1	2	1	2	3	2	5	2	3	2	3			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr1:209804013T>G	ENST00000391911.1	-	8	1279	c.890A>C	c.(889-891)tAc>tCc	p.Y297S	LAMB3_ENST00000367030.3_Missense_Mutation_p.Y297S|LAMB3_ENST00000356082.4_Missense_Mutation_p.Y297S	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	297	Laminin EGF-like 1.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CCGGTTGTTGTAGAAGGGTGC	0.612													4	32					0	0	1	0	0	G	209804013	T	G	209804013	3	3	254	1	0	0	0	0	1	0	0	0	8651	1638	57	5	2688	5	LAMB3	1	209804013	Missense_Mutation	SNP	T	TCGA-KK-A6E6-01A-11D-A30X-08	4735874	209804013	39446608	10	13296											
KCNF1	3754	broad.mit.edu	37	chr2	11053815	11053815	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcagcgcgtcctggagacCgcggccaagcacgagctgga	10	3	15	13	5	0	1	0	0	0	1	1	4	1	2	3	3	4	3	3	3	2	0	rs144040411	byFrequency	TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr2:11053815C>T	ENST00000295082.1	+	1	1753	c.1263C>T	c.(1261-1263)acC>acT	p.T421T		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	421						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		TCCTGGAGACCGCGGCCAAGC	0.617													8	36					0	0	1	0	0	T	11053815	C	T	11053815	2	4	254	1	0	0	0	0	0	0	0	1	8070	639	23	1		1	KCNF1	2	11053815	Silent	SNP	C	TCGA-KK-A6E6-01A-11D-A30X-08		11053815	232145558	11	13297											
AGBL5	60509	broad.mit.edu	37	chr2	27277614	27277614	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgagaagatcgagagccccGtctagagcagctatttcctg	10	9	11	11	3	1	4	0	0	1	4	4	6	2	4	3	0	3	2	3	0	3	3			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr2:27277614G>A	ENST00000360131.4	+	5	827	c.668G>A	c.(667-669)cGt>cAt	p.R223H	AGBL5_ENST00000323064.8_Missense_Mutation_p.R223H	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	223					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGAGAGCCCCGTCTAGAGCAG	0.502													35	84					0	0	1	0	0	A	27277614	G	A	27277614	3	1	254	1	0	0	0	0	1	0	0	0	375	1145	40	1	682	1	AGBL5	2	27277614	Missense_Mutation	SNP	G	TCGA-KK-A6E6-01A-11D-A30X-08	16223799	27277614	215921759	12	13298											
ILKAP	80895	broad.mit.edu	37	chr2	239090711	239090711	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtcccttggttacctgacGtttcctccagccttctgtat	5	15	7	14	1	1	1	0	1	1	0	4	1	4	1	5	1	2	3	5	1	2	5			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr2:239090711G>A	ENST00000254654.3	-	9	1006	c.831C>T	c.(829-831)aaC>aaT	p.N277N		NM_030768.2	NP_110395.1	Q9H0C8	ILKAP_HUMAN	integrin-linked kinase-associated serine/threonine phosphatase	277	PP2C-like.					cytoplasm|protein serine/threonine phosphatase complex	metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		GTTACCTGACGTTTCCTCCAG	0.493													10	169					0	0	1	0	0	A	239090711	G	A	239090711	2	1	254	1	0	0	0	0	0	0	0	1	7758	1136	40	1		1	ILKAP	2	239090711	Silent	SNP	G	TCGA-KK-A6E6-01A-11D-A30X-08	211813097	239090711	4108662	13	13299											
SCN10A	6336	broad.mit.edu	37	chr3	38793972	38793972	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acacactgccatgactagccCggcgttttccagaggcgagg	9	7	12	13	3	0	2	0	1	0	1	1	3	1	2	3	3	2	1	3	3	1	3			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr3:38793972C>T	ENST00000449082.2	-	11	1492	c.1493G>A	c.(1492-1494)cGg>cAg	p.R498Q		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	498					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	ATGACTAGCCCGGCGTTTTCC	0.547													7	25					0	0	1	0	0	T	38793972	C	T	38793972	3	4	254	1	0	0	0	0	1	0	0	0	13966	652	23	1	4445	1	SCN10A	3	38793972	Missense_Mutation	SNP	C	TCGA-KK-A6E6-01A-11D-A30X-08		38793972	159228458	14	13300											
ZNF518B	85460	broad.mit.edu	37	chr4	10447770	10447770	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgaacacttttgcacttTgcacatgtagcaatggtcat	10	15	8	8	0	1	1	1	1	0	0	1	1	1	1	0	1	4	4	0	1	3	5			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr4:10447770T>A	ENST00000326756.3	-	3	621	c.183A>T	c.(181-183)gcA>gcT	p.A61A		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	61					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TTTTGCACTTTGCACATGTAG	0.488													16	131					0	0	1	0	0	A	10447770	T	A	10447770	2	1	254	1	0	0	0	0	0	0	0	1	18020	1799	63	5		5	ZNF518B	4	10447770	Silent	SNP	T	TCGA-KK-A6E6-01A-11D-A30X-08		10447770	180706506	15	13301											
TBC1D19	55296	broad.mit.edu	37	chr4	26622238	26622238	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctttttgctcctaggttTcctttacctagtcatcctgc	4	18	5	14	0	2	0	1	0	1	0	5	0	5	0	5	1	3	2	5	1	3	7			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr4:26622238T>C	ENST00000264866.4	+	4	500	c.222T>C	c.(220-222)ttT>ttC	p.F74F	TBC1D19_ENST00000511789.1_Intron|TBC1D19_ENST00000515568.1_3'UTR	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	74						intracellular	Rab GTPase activator activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				CTCCTAGGTTTCCTTTACCTA	0.368													15	51					0	0	1	0	0	C	26622238	T	C	26622238	2	2	254	1	0	0	0	0	0	0	0	1	15664	1780	62	3		3	TBC1D19	4	26622238	Silent	SNP	T	TCGA-KK-A6E6-01A-11D-A30X-08	16174468	26622238	164532038	16	13302											
NAIP	4671	broad.mit.edu	37	chr5	70307189	70307189	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaggaaaaacactgtaccGtgtcctgtttacctatatat	13	12	6	10	1	0	0	0	0	0	0	1	1	1	1	3	1	3	2	3	1	7	6			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr5:70307189G>A	ENST00000517649.1	-	5	871	c.581C>T	c.(580-582)aCg>aTg	p.T194M	NAIP_ENST00000194097.4_Missense_Mutation_p.T194M|NAIP_ENST00000508426.2_Missense_Mutation_p.T194M|NAIP_ENST00000503719.2_Intron|NAIP_ENST00000523981.1_Intron	NM_004536.2	NP_004527.2	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein	194					anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		ACACTGTACCGTGTCCTGTTT	0.423													10	24					0	0	1	0	0	A	70307189	G	A	70307189	3	1	254	1	0	0	0	0	1	0	0	0	10195	1145	40	1	3682	1	NAIP	5	70307189	Missense_Mutation	SNP	G	TCGA-KK-A6E6-01A-11D-A30X-08		70307189	110608071	17	13303											
XPO5	57510	broad.mit.edu	37	chr6	43519114	43519114	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agacattagtaaggacgcagGacaggatgaggggatccttg	13	7	15	6	1	0	2	0	1	0	1	1	6	1	6	1	5	0	2	1	5	2	3			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr6:43519114G>A	ENST00000265351.7	-	15	1859	c.1649C>T	c.(1648-1650)tCc>tTc	p.S550F	XPO5_ENST00000424378.2_5'UTR	NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	550	Necessary for interaction with ILF3.				gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			AAGGACGCAGGACAGGATGAG	0.438													24	56					0	0	1	0	0	A	43519114	G	A	43519114	3	1	254	1	0	0	0	0	1	0	0	0	17507	1174	41	2	2037	2	XPO5	6	43519114	Missense_Mutation	SNP	G	TCGA-KK-A6E6-01A-11D-A30X-08		43519114	127595953	18	13304											
TFAP2B	7021	broad.mit.edu	37	chr6	50791238	50791238	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgtcgtcggacttccagcCgccctacttcccacccccct	4	8	6	23	4	0	0	0	0	0	0	4	1	2	1	8	1	2	0	8	1	1	3			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr6:50791238C>T	ENST00000263046.4	+	3	393	c.227C>T	c.(226-228)cCg>cTg	p.P76L	TFAP2B_ENST00000489228.1_3'UTR|TFAP2B_ENST00000393655.3_Missense_Mutation_p.P67L			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	67	Gln/Pro-rich (transactivation domain).				nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					GACTTCCAGCCGCCCTACTTC	0.692													8	27					0	0	1	0	0	T	50791238	C	T	50791238	3	4	254	1	0	0	0	0	1	0	0	0	15848	652	23	1	206	1	TFAP2B	6	50791238	Missense_Mutation	SNP	C	TCGA-KK-A6E6-01A-11D-A30X-08	7272124	50791238	120323829	19	13305											
SH3BGRL2	83699	broad.mit.edu	37	chr6	80383442	80383442	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaatggatgtacaaaaacGtccccccggaaaagaaaccc	16	4	9	12	2	0	1	0	0	0	1	1	3	1	3	4	3	3	2	4	3	7	1			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr6:80383442G>A	ENST00000369838.4	+	2	336	c.157G>A	c.(157-159)Gtc>Atc	p.V53I		NM_031469.2	NP_113657.1	Q9UJC5	SH3L2_HUMAN	SH3 domain binding glutamic acid-rich protein like 2	53						nucleus	SH3 domain binding			large_intestine(2)|lung(3)	5		all_cancers(76;0.00188)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.174)		BRCA - Breast invasive adenocarcinoma(397;0.0278)		GTACAAAAACGTCCCCCCGGA	0.473													25	85					0	0	1	0	0	A	80383442	G	A	80383442	3	1	254	1	0	0	0	0	1	0	0	0	14296	1145	40	1	163	1	SH3BGRL2	6	80383442	Missense_Mutation	SNP	G	TCGA-KK-A6E6-01A-11D-A30X-08	29592204	80383442	90731625	20	13306											
SYNE1	23345	broad.mit.edu	37	chr6	152539540	152539540	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cataatcaagaactccagccTttttttccacaaaagaaatt	16	12	3	10	0	1	2	1	0	0	2	3	2	3	2	3	0	2	0	3	0	6	5	rs35128811		TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr6:152539540T>C	ENST00000367255.5	-	121	22646		c.e121-2		SYNE1_ENST00000341594.5_Splice_Site|SYNE1_ENST00000448038.1_Splice_Site|SYNE1_ENST00000423061.1_Splice_Site|SYNE1_ENST00000265368.4_Splice_Site|SYNE1_ENST00000356820.4_Splice_Site	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1						cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AACTCCAGCCTTTTTTTCCAC	0.343										HNSCC(10;0.0054)			4	216					0	0	1	0	0	C	152539540	T	C	152539540	5	2	254	1	0	0	0	0	0	0	1	0	15502	1623	56	3	4527	3	SYNE1	6	152539540	Splice_Site	SNP	T	TCGA-KK-A6E6-01A-11D-A30X-08	72156098	152539540	18575527	21	13307											
HECW1	23072	broad.mit.edu	37	chr7	43546798	43546798	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagactttgaggccaagctcCgcaatttctacagaaaactg	13	9	9	10	1	1	3	0	1	1	2	2	4	2	3	2	1	3	2	2	1	5	3			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr7:43546798C>T	ENST00000395891.1	+	22	4299	c.3694C>T	c.(3694-3696)Cgc>Tgc	p.R1232C	HECW1_ENST00000453890.1_Missense_Mutation_p.R1198C	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1232					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GGCCAAGCTCCGCAATTTCTA	0.493													11	56					0	0	1	0	0	T	43546798	C	T	43546798	3	4	254	1	0	0	0	0	1	0	0	0	7083	652	23	1	3772	1	HECW1	7	43546798	Missense_Mutation	SNP	C	TCGA-KK-A6E6-01A-11D-A30X-08		43546798	115591865	22	13308											
PCLO	27445	broad.mit.edu	37	chr7	82764221	82764221	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtttggccagcggtaggtCgtgggccagggggtgttggt	4	10	20	7	2	0	0	0	0	0	0	1	0	0	0	2	7	1	3	2	7	1	3			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr7:82764221C>A	ENST00000423517.2	-	3	2982	c.2645G>T	c.(2644-2646)cGa>cTa	p.R882L	PCLO_ENST00000333891.8_Missense_Mutation_p.R882L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	828	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.R882L(2)|p.R828L(1)		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						AGCGGTAGGTCGTGGGCCAGG	0.517													6	264					1.26484e-09	1.305e-09	1	1	0	A	82764221	C	A	82764221	3	1	254	1	0	0	0	0	1	0	0	0	11630	884	31	4	12892	4	PCLO	7	82764221	Missense_Mutation	SNP	C	TCGA-KK-A6E6-01A-11D-A30X-08	39217423	82764221	76374442	23	13309											
TMEM209	84928	broad.mit.edu	37	chr7	129818271	129818271	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttcaaacaagtattcctgaTttggagtaaggtctagatac	13	14	8	6	0	2	2	1	1	1	1	3	3	3	3	1	2	2	2	1	2	6	7			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr7:129818271T>C	ENST00000397622.2	-	10	1339	c.1217A>G	c.(1216-1218)aAt>aGt	p.N406S	RP11-775D22.3_ENST00000483283.1_RNA|TMEM209_ENST00000336804.8_Intron|TMEM209_ENST00000473456.1_Intron|TMEM209_ENST00000462753.1_Missense_Mutation_p.N405S	NM_032842.3	NP_116231.2	Q96SK2	TM209_HUMAN	transmembrane protein 209	406						integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12	Melanoma(18;0.0435)					GTATTCCTGATTTGGAGTAAG	0.353													5	20					0	0	1	0	0	C	129818271	T	C	129818271	3	2	254	1	0	0	0	0	1	0	0	0	16194	1493	52	3	492	3	TMEM209	7	129818271	Missense_Mutation	SNP	T	TCGA-KK-A6E6-01A-11D-A30X-08	47054050	129818271	29320392	24	13310											
PXDNL	137902	broad.mit.edu	37	chr8	52321583	52321583	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggacggccgctggcacacgcGgggctggagcgcgcgaagag	7	2	20	12	7	0	1	0	0	0	1	0	4	0	3	1	6	1	3	1	6	1	0			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr8:52321583G>A	ENST00000356297.4	-	17	2701	c.2601C>T	c.(2599-2601)ccC>ccT	p.P867P	PXDNL_ENST00000543296.1_Silent_p.P867P	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	867					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TGGCACACGCGGGGCTGGAGC	0.647													12	22					0	0	1	0	0	A	52321583	G	A	52321583	2	1	254	1	0	0	0	0	0	0	0	1	12900	1103	39	1		1	PXDNL	8	52321583	Silent	SNP	G	TCGA-KK-A6E6-01A-11D-A30X-08		52321583	94042439	25	13311											
ZNF707	286075	broad.mit.edu	37	chr8	144776071	144776071	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgtgggcggcggccgggcCgcagagagcgccggaagcag	6	3	21	11	6	0	1	0	0	0	1	0	3	0	2	3	5	2	3	3	5	1	1			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr8:144776071C>T	ENST00000532205.1	+	8	1386	c.487C>T	c.(487-489)Cgc>Tgc	p.R163C	ZNF707_ENST00000418203.2_Missense_Mutation_p.R163C|ZNF707_ENST00000358656.4_Missense_Mutation_p.R163C|ZNF707_ENST00000532158.1_Missense_Mutation_p.R163C|ZNF707_ENST00000454097.1_Missense_Mutation_p.R163C			Q96C28	ZN707_HUMAN	zinc finger protein 707	163					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GCGGCCGGGCCGCAGAGAGCG	0.677													4	19					0	0	1	0	0	T	144776071	C	T	144776071	3	4	254	1	0	0	0	0	1	0	0	0	18167	652	23	1	501	1	ZNF707	8	144776071	Missense_Mutation	SNP	C	TCGA-KK-A6E6-01A-11D-A30X-08	92454488	144776071	1587951	26	13312											
PRPF4	9128	broad.mit.edu	37	chr9	116049072	116049072	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtcaacctggcctcttgtgCggctgatggctctgtgaagc	5	12	13	11	1	3	2	1	2	2	0	3	2	3	2	2	3	3	2	2	3	2	1			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr9:116049072C>T	ENST00000374199.4	+	9	1297	c.896C>T	c.(895-897)gCg>gTg	p.A299V	PRPF4_ENST00000374198.4_Missense_Mutation_p.A300V			O43172	PRP4_HUMAN	pre-mRNA processing factor 4	300						Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP	protein binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						GCCTCTTGTGCGGCTGATGGC	0.468													5	500					0	0	1	0	0	T	116049072	C	T	116049072	3	4	254	1	0	0	0	0	1	0	0	0	12622	768	27	1	933	1	PRPF4	9	116049072	Missense_Mutation	SNP	C	TCGA-KK-A6E6-01A-11D-A30X-08		116049072	25164359	27	13313											
FAM73B	84895	broad.mit.edu	37	chr9	131831378	131831378	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggccactgcttgctggtcGgtcctgaaagccaagaggag	8	9	14	10	1	0	2	0	1	0	1	2	3	1	3	3	4	3	2	3	4	2	2			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr9:131831378G>A	ENST00000358369.4	+	14	1654	c.1428G>A	c.(1426-1428)tcG>tcA	p.S476S	FAM73B_ENST00000277475.5_3'UTR|FAM73B_ENST00000406926.2_3'UTR	NM_032809.2	NP_116198.2	Q7L4E1	FA73B_HUMAN	family with sequence similarity 73, member B	476						integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						CTTGCTGGTCGGTCCTGAAAG	0.647											OREG0003928	type=REGULATORY REGION|Gene=FAM73B|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	5	177					0	0	1	0	0	A	131831378	G	A	131831378	2	1	254	1	0	0	0	0	0	0	0	1	5652	1103	39	1		1	FAM73B	9	131831378	Silent	SNP	G	TCGA-KK-A6E6-01A-11D-A30X-08	15782306	131831378	9382053	28	13314											
AKR1C4	1109	broad.mit.edu	37	chr10	5248268	5248268	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtgtaaggatgcaggattgGccaagtccatcggggtgtca	10	9	15	7	1	1	0	1	0	0	0	3	2	2	2	2	5	1	2	2	5	2	2			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr10:5248268G>A	ENST00000380448.1	+	7	731	c.478G>A	c.(478-480)Gcc>Acc	p.A160T	AKR1C4_ENST00000263126.1_Missense_Mutation_p.A160T			P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	160					androgen metabolic process|bile acid biosynthetic process	cytosol	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18					NADH(DB00157)	TGCAGGATTGGCCAAGTCCAT	0.493													4	89					0	0	1	0	0	A	5248268	G	A	5248268	3	1	254	1	0	0	0	0	1	0	0	0	469	1203	42	2	496	2	AKR1C4	10	5248268	Missense_Mutation	SNP	G	TCGA-KK-A6E6-01A-11D-A30X-08		5248268	130286479	29	13315											
C10orf53	282966	broad.mit.edu	37	chr10	50901903	50901903	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactcatggtgaatgaagaaGtcatcttccactgcaacatt	14	11	7	9	0	3	3	2	2	1	1	4	3	4	3	1	1	3	1	1	1	5	2			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr10:50901903G>A	ENST00000374113.3	+	2	228	c.181G>A	c.(181-183)Gtc>Atc	p.V61I	CHAT_ENST00000455728.2_3'UTR|C10orf53_ENST00000374111.3_Missense_Mutation_p.V61I|C10orf53_ENST00000374112.3_Missense_Mutation_p.V61I|C10orf53_ENST00000535836.1_Missense_Mutation_p.V61I			Q8N6V4	CJ053_HUMAN	chromosome 10 open reading frame 53	61										endometrium(1)|lung(6)	7		all_neural(218;0.107)				GAATGAAGAAGTCATCTTCCA	0.468													20	48					0	0	1	0	0	A	50901903	G	A	50901903	3	1	254	1	0	0	0	0	1	0	0	0	1610	1029	36	2	187	2	C10orf53	10	50901903	Missense_Mutation	SNP	G	TCGA-KK-A6E6-01A-11D-A30X-08	45653635	50901903	84632844	30	13316											
SERPING1	710	broad.mit.edu	37	chr11	57367489	57367489	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacccatcctggaggtttcCagcttgccgacaaccaactc	10	8	8	15	1	0	0	0	0	0	0	3	3	2	1	5	2	5	2	5	2	3	2			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr11:57367489C>A	ENST00000403558.1	+	2	657	c.291C>A	c.(289-291)tcC>tcA	p.S97S	SERPING1_ENST00000278407.4_Silent_p.S63S|SERPING1_ENST00000378324.2_Silent_p.S11S|SERPING1_ENST00000378323.4_Silent_p.S68S|SERPING1_ENST00000340687.6_Silent_p.S63S	NM_001032295.1	NP_001027466.1	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	63	7 X 4 AA tandem repeats of [QE]-P-T-[TQ].		Missing (in HAE; type 2).		blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						TGGAGGTTTCCAGCTTGCCGA	0.512													7	36					0.00198382	0.00198382	1	1	0	A	57367489	C	A	57367489	2	1	254	1	0	0	0	0	0	0	0	1	14170	581	21	4		4	SERPING1	11	57367489	Silent	SNP	C	TCGA-KK-A6E6-01A-11D-A30X-08		57367489	77639027	31	13317											
WNT1	7471	broad.mit.edu	37	chr12	49374247	49374247	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttcgctatcacctccgcCggggtcacccattcggtggc	5	10	10	16	4	3	0	2	0	1	0	6	0	4	0	4	4	0	1	4	4	1	3			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr12:49374247C>T	ENST00000293549.3	+	3	435	c.399C>T	c.(397-399)gcC>gcT	p.A133A		NM_005430.3	NP_005421.1	P04628	WNT1_HUMAN	wingless-type MMTV integration site family, member 1	133					brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of DNA damage checkpoint|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of Notch signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to wounding|signal transduction in response to DNA damage|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled-2 binding|transcription regulatory region DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(357;0.244)		TCACCTCCGCCGGGGTCACCC	0.682													11	36					0	0	1	0	0	T	49374247	C	T	49374247	2	4	254	1	0	0	0	0	0	0	0	1	17441	639	23	1		1	WNT1	12	49374247	Silent	SNP	C	TCGA-KK-A6E6-01A-11D-A30X-08		49374247	84477648	32	13318											
DNAH10	196385	broad.mit.edu	37	chr12	124289442	124289442	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgacgtggaccacatggtcCggtggtatcttgccattgga	7	10	14	10	3	1	0	0	0	1	0	2	3	2	2	3	5	1	1	3	5	1	3			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr12:124289442C>T	ENST00000409039.3	+	17	2513	c.2488C>T	c.(2488-2490)Cgg>Tgg	p.R830W		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	830	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CCACATGGTCCGGTGGTATCT	0.532													6	131					0	0	1	0	0	T	124289442	C	T	124289442	3	4	254	1	0	0	0	0	1	0	0	0	4626	643	23	1	2554	1	DNAH10	12	124289442	Missense_Mutation	SNP	C	TCGA-KK-A6E6-01A-11D-A30X-08	74915195	124289442	9562453	33	13319											
C16orf89	146556	broad.mit.edu	37	chr16	5110422	5110422	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttccaaaacccgggctggAgggtcagctggaactctggc	8	7	14	12	1	2	0	1	0	1	0	3	2	3	2	2	5	3	3	2	5	3	1			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr16:5110422A>G	ENST00000315997.5	-	3	575	c.374T>C	c.(373-375)cTc>cCc	p.L125P	C16orf89_ENST00000350219.4_Missense_Mutation_p.L163P|C16orf89_ENST00000422873.1_Missense_Mutation_p.L163P|C16orf89_ENST00000474471.3_Missense_Mutation_p.L125P|ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000472572.3_Missense_Mutation_p.L125P	NM_152459.4	NP_689672.4	Q6UX73	CP089_HUMAN	chromosome 16 open reading frame 89	125						extracellular region				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						CCCGGGCTGGAGGGTCAGCTG	0.627													3	43					0	0	1	0	0	G	5110422	A	G	5110422	3	3	254	1	0	0	0	0	1	0	0	0	1849	304	11	3	993	3	C16orf89	16	5110422	Missense_Mutation	SNP	A	TCGA-KK-A6E6-01A-11D-A30X-08		5110422	85244331	34	13320											
COG7	91949	broad.mit.edu	37	chr16	23417460	23417460	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggttatctttctggaggtaAttatattcttgccatgggtt	7	18	11	5	0	3	0	0	0	3	0	3	1	3	1	1	4	1	3	1	4	4	8			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr16:23417460A>G	ENST00000307149.5	-	12	1784	c.1599T>C	c.(1597-1599)aaT>aaC	p.N533N		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	533					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		TCTGGAGGTAATTATATTCTT	0.423													30	113					0	0	1	0	0	G	23417460	A	G	23417460	2	3	254	1	0	0	0	0	0	0	0	1	3686	98	4	3		3	COG7	16	23417460	Silent	SNP	A	TCGA-KK-A6E6-01A-11D-A30X-08	18307038	23417460	66937293	35	13321											
ARMC5	79798	broad.mit.edu	37	chr16	31473498	31473498	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgacagcctgccaggactcGcagtgcctacagagcgtggt	8	7	13	13	2	0	2	0	1	0	1	1	3	0	3	3	2	5	1	3	2	1	1			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr16:31473498G>A	ENST00000457010.2	+	3	1331	c.630G>A	c.(628-630)tcG>tcA	p.S210S	ARMC5_ENST00000412665.2_Silent_p.S46S|ARMC5_ENST00000408912.3_Silent_p.S305S|ARMC5_ENST00000268314.4_Silent_p.S210S|ARMC5_ENST00000563544.1_Silent_p.S210S|ARMC5_ENST00000538189.1_Silent_p.S242S	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	210							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GCCAGGACTCGCAGTGCCTAC	0.647													4	57					0	0	1	0	0	A	31473498	G	A	31473498	2	1	254	1	0	0	0	0	0	0	0	1	953	1074	38	1		1	ARMC5	16	31473498	Silent	SNP	G	TCGA-KK-A6E6-01A-11D-A30X-08	8056038	31473498	58881255	36	13322											
SALL1	6299	broad.mit.edu	37	chr16	51175110	51175110	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgccgctgccaatatgttCatattgggagaagagccgct	10	10	11	10	2	1	2	1	0	0	2	1	3	1	2	3	1	3	3	3	1	4	4			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr16:51175110C>A	ENST00000440970.1	-	2	1163	c.732G>T	c.(730-732)atG>atT	p.M244I	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.M341I	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	341					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			CCAATATGTTCATATTGGGAG	0.537													9	92					1.11149e-13	1.18438e-13	1	1	0	A	51175110	C	A	51175110	3	1	254	1	0	0	0	0	1	0	0	0	13862	826	29	4	2959	4	SALL1	16	51175110	Missense_Mutation	SNP	C	TCGA-KK-A6E6-01A-11D-A30X-08	19701612	51175110	39179643	37	13323											
KLHDC4	54758	broad.mit.edu	37	chr16	87760499	87760499	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtgaaggtgtccagattaaAggcatacacgtcgttgtagt	11	12	12	6	2	0	2	0	1	0	1	2	2	1	2	1	2	1	3	1	2	5	4			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr16:87760499A>G	ENST00000270583.5	-	7	689	c.631T>C	c.(631-633)Ttt>Ctt	p.F211L	KLHDC4_ENST00000347925.5_Missense_Mutation_p.F180L|KLHDC4_ENST00000353170.5_Missense_Mutation_p.F154L|KLHDC4_ENST00000566349.1_5'UTR	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	211										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		TCCAGATTAAAGGCATACACG	0.532													9	29					0	0	1	0	0	G	87760499	A	G	87760499	3	3	254	1	0	0	0	0	1	0	0	0	8401	72	3	3	951	3	KLHDC4	16	87760499	Missense_Mutation	SNP	A	TCGA-KK-A6E6-01A-11D-A30X-08	36585389	87760499	2594254	38	13324											
NEURL4	84461	broad.mit.edu	37	chr17	7222513	7222513	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gatgtccactgtcggtttagGaaatctatccgcacctgggg	8	11	12	10	2	1	0	0	0	1	0	4	2	3	1	3	4	0	2	3	4	3	3			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr17:7222513G>A	ENST00000399464.2	-	22	3555	c.3540C>T	c.(3538-3540)ttC>ttT	p.F1180F	NEURL4_ENST00000315614.7_Silent_p.F1178F|NEURL4_ENST00000570460.1_Silent_p.F1156F	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GTCGGTTTAGGAAATCTATCC	0.567													9	34					0	0	1	0	0	A	7222513	G	A	7222513	2	1	254	1	0	0	0	0	0	0	0	1	10394	1165	41	2		2	NEURL4	17	7222513	Silent	SNP	G	TCGA-KK-A6E6-01A-11D-A30X-08		7222513	73972697	39	13325											
PNMT	5409	broad.mit.edu	37	chr17	37826226	37826226	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatgctggcaggataaggagCgccagctgcgagccagggtg	10	5	17	9	2	0	0	0	0	0	0	0	3	0	2	2	4	5	3	2	4	2	1			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr17:37826226C>T	ENST00000269582.2	+	3	751	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C	PNMT_ENST00000394246.1_Missense_Mutation_p.R47C|PNMT_ENST00000581428.1_3'UTR	NM_002686.3	NP_002677.1	P11086	PNMT_HUMAN	phenylethanolamine N-methyltransferase	145					catecholamine biosynthetic process|hormone biosynthetic process	cytosol	phenylethanolamine N-methyltransferase activity			NS(1)|breast(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GGATAAGGAGCGCCAGCTGCG	0.662													7	59					0	0	1	0	0	T	37826226	C	T	37826226	3	4	254	1	0	0	0	0	1	0	0	0	12207	768	27	1	443	1	PNMT	17	37826226	Missense_Mutation	SNP	C	TCGA-KK-A6E6-01A-11D-A30X-08	30603713	37826226	43368984	40	13326											
TXNDC2	0	broad.mit.edu	37	chr18	9888099	9888099	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatgaactttgcggcgccctTaaggaaaaacttgaagcagt	13	9	11	8	2	0	2	0	2	0	0	0	4	0	3	1	2	4	1	1	2	5	3			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr18:9888099T>G	ENST00000306084.6	+	2	1822	c.1623T>G	c.(1621-1623)ctT>ctG	p.L541L	TXNDC2_ENST00000577697.1_3'UTR|TXNDC2_ENST00000357775.4_Silent_p.L474L|TXNDC2_ENST00000536353.2_3'UTR	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	541	Thioredoxin.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GCGGCGCCCTTAAGGAAAAAC	0.393													8	15					0	0	1	0	0	G	9888099	T	G	9888099	2	3	254	1	0	0	0	0	0	0	0	1	16859	1741	61	5		5	TXNDC2	18	9888099	Silent	SNP	T	TCGA-KK-A6E6-01A-11D-A30X-08		9888099	68189149	41	13327											
SUPT5H	6829	broad.mit.edu	37	chr19	39964093	39964093	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacggctcacagacgcccctGcatgatggcagccgcactcc	8	6	10	17	3	1	2	1	1	0	1	2	2	2	2	4	2	3	4	4	2	1	1			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr19:39964093G>A	ENST00000599117.1	+	26	2791	c.2424G>A	c.(2422-2424)ctG>ctA	p.L808L	SUPT5H_ENST00000432763.2_Silent_p.L808L|SUPT5H_ENST00000359191.6_Silent_p.L804L|SUPT5H_ENST00000402194.2_Silent_p.L804L|SUPT5H_ENST00000598725.1_Silent_p.L808L			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	808	9 X 7 AA approximate tandem repeats of G- S-[QR]-T-P-X-[YQ], motif CTR1.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGACGCCCCTGCATGATGGCA	0.632													20	72					0	0	1	0	0	A	39964093	G	A	39964093	2	1	254	1	0	0	0	0	0	0	0	1	15455	1306	46	2		2	SUPT5H	19	39964093	Silent	SNP	G	TCGA-KK-A6E6-01A-11D-A30X-08		39964093	19164890	42	13328											
KIF16B	55614	broad.mit.edu	37	chr20	16360454	16360454	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctttttccttttggagctgGtccagttcttgaaatatctg	6	19	8	8	0	3	1	0	1	3	0	5	2	5	2	2	2	1	2	2	2	2	7			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr20:16360454G>A	ENST00000354981.2	-	19	2350	c.2193C>T	c.(2191-2193)gaC>gaT	p.D731D	KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Silent_p.D731D|KIF16B_ENST00000408042.1_Silent_p.D731D	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	731	Glu-rich.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TTTGGAGCTGGTCCAGTTCTT	0.458													15	64					0	0	1	0	0	A	16360454	G	A	16360454	2	1	254	1	0	0	0	0	0	0	0	1	8320	1252	44	2		2	KIF16B	20	16360454	Silent	SNP	G	TCGA-KK-A6E6-01A-11D-A30X-08		16360454	46665066	43	13329											
CDH26	60437	broad.mit.edu	37	chr20	58564004	58564004	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcaaagcctcatcattgtcGtggagaatgaggagaggctc	11	8	13	9	2	2	3	2	1	0	2	4	5	2	3	1	3	1	2	1	3	2	1			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr20:58564004G>A	ENST00000348616.4	+	9	1369	c.1069G>A	c.(1069-1071)Gtg>Atg	p.V357M	CDH26_ENST00000244047.5_Missense_Mutation_p.V357M	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	cadherin 26	357	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			CATCATTGTCGTGGAGAATGA	0.567													7	49					0	0	1	0	0	A	58564004	G	A	58564004	3	1	254	1	0	0	0	0	1	0	0	0	3132	1145	40	1	1103	1	CDH26	20	58564004	Missense_Mutation	SNP	G	TCGA-KK-A6E6-01A-11D-A30X-08	42203550	58564004	4461516	44	13330											
DSCAM	1826	broad.mit.edu	37	chr21	41452117	41452117	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttctatgatttcacttatgCgccctgggcccactccattt	6	15	6	14	1	2	1	1	1	1	0	3	1	3	1	3	1	1	0	3	1	2	5			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chr21:41452117C>T	ENST00000400454.1	-	25	4859	c.4382G>A	c.(4381-4383)cGc>cAc	p.R1461H		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1461	Fibronectin type-III 5.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TTCACTTATGCGCCCTGGGCC	0.468													4	98					0	0	1	0	0	T	41452117	C	T	41452117	3	4	254	1	0	0	0	0	1	0	0	0	4794	768	27	1	1692	1	DSCAM	21	41452117	Missense_Mutation	SNP	C	TCGA-KK-A6E6-01A-11D-A30X-08		41452117	6677778	45	13331											
TEX11	0	broad.mit.edu	37	chrX	69843845	69843845	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caatttttggaagaagaaaaCgaagcaaacacctgtatgac	18	8	8	7	1	0	3	0	1	0	2	0	5	0	4	1	1	3	2	1	1	8	3			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chrX:69843845C>T	ENST00000395889.2	-	21	1906	c.1751G>A	c.(1750-1752)cGt>cAt	p.R584H	TEX11_ENST00000344304.3_Missense_Mutation_p.R584H|TEX11_ENST00000374333.2_Missense_Mutation_p.R569H|TEX11_ENST00000374320.2_Missense_Mutation_p.R259H	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	584							protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					AAGAAGAAAACGAAGCAAACA	0.323													21	23					0	0	1	0	0	T	69843845	C	T	69843845	3	4	254	1	0	0	0	0	1	0	0	0	15833	536	19	1	1115	1	TEX11	23	69843845	Missense_Mutation	SNP	C	TCGA-KK-A6E6-01A-11D-A30X-08		69843845	85426715	46	13332											
LPAR4	2846	broad.mit.edu	37	chrX	78010846	78010846	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattctgccattgtgtgtgcTggtgtctggatcctagtcct	5	16	11	9	0	2	0	0	0	2	0	4	1	4	1	3	2	2	1	3	2	2	3			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chrX:78010846T>C	ENST00000435339.2	+	2	885	c.480T>C	c.(478-480)gcT>gcC	p.A160A	LPAR4_ENST00000373301.2_Silent_p.A160A	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	160						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						TTGTGTGTGCTGGTGTCTGGA	0.463													7	21					0	0	1	0	0	C	78010846	T	C	78010846	2	2	254	1	0	0	0	0	0	0	0	1	8952	1567	55	3		3	LPAR4	23	78010846	Silent	SNP	T	TCGA-KK-A6E6-01A-11D-A30X-08	8167001	78010846	77259714	47	13333											
GUCY2F	2986	broad.mit.edu	37	chrX	108641817	108641817	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgcagaatggggtaccccGgaccatcacttcttgcatga	10	9	10	12	1	2	2	1	1	1	1	2	3	2	3	3	3	3	3	3	3	2	3			TCGA-KK-A6E6-01A-11D-A30X-08	TCGA-KK-A6E6-11A-11D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a006949-56b7-4774-9768-6f384207ff48	605429ab-6e57-4c37-a6f9-85ef92e057f5	g.chrX:108641817G>A	ENST00000218006.2	-	11	2527	c.2236C>T	c.(2236-2238)Cgg>Tgg	p.R746W		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	746	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						GGGGTACCCCGGACCATCACT	0.542													9	42					0	0	1	0	0	A	108641817	G	A	108641817	3	1	254	1	0	0	0	0	1	0	0	0	6939	1115	39	1	1126	1	GUCY2F	23	108641817	Missense_Mutation	SNP	G	TCGA-KK-A6E6-01A-11D-A30X-08	30630971	108641817	46628743	48	13334											
RPS6KA1	6195	broad.mit.edu	37	chr1	26883148	26883148	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	catttgggctctttcaggctCcggccctgatggggcagagg	5	10	15	11	1	2	2	1	1	1	1	3	2	3	2	2	6	0	3	2	6	0	2			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr1:26883148C>T	ENST00000374168.2	+	12	1074	c.920C>T	c.(919-921)tCc>tTc	p.S307F	RPS6KA1_ENST00000530003.1_Missense_Mutation_p.S291F|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.S215F|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.S215F|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.S316F|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.S296F|RPS6KA1_ENST00000488985.1_3'UTR	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	307	Protein kinase 1.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		CTTTCAGGCTCCGGCCCTGAT	0.592													20	52					0	0	1	0	0	T	26883148	C	T	26883148	3	4	255	1	0	0	0	0	1	0	0	0	13702	855	30	2	1105	2	RPS6KA1	1	26883148	Missense_Mutation	SNP	C	TCGA-KK-A6E7-01A-11D-A31L-08		26883148	222367473	1	13335											
CELSR2	1952	broad.mit.edu	37	chr1	109794553	109794553	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccaaccagagtacacagtgCggctcaatgaggatgcagct	12	6	11	12	1	1	2	1	1	0	1	1	3	1	3	2	2	5	4	2	2	3	1			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr1:109794553C>T	ENST00000271332.3	+	1	1913	c.1852C>T	c.(1852-1854)Cgg>Tgg	p.R618W		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	618	Cadherin 5.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GTACACAGTGCGGCTCAATGA	0.562													4	113					0	0	1	0	0	T	109794553	C	T	109794553	3	4	255	1	0	0	0	0	1	0	0	0	3244	759	27	1	1854	1	CELSR2	1	109794553	Missense_Mutation	SNP	C	TCGA-KK-A6E7-01A-11D-A31L-08	82911405	109794553	139456068	2	13336											
KCNA3	3738	broad.mit.edu	37	chr1	111217282	111217282	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaccacggtcatgtcgggCggcagctcgcggcctgcggc	4	5	17	15	6	1	0	1	0	0	0	3	0	1	0	2	6	2	3	2	6	0	0			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr1:111217282C>T	ENST00000369769.2	-	1	373	c.150G>A	c.(148-150)ccG>ccA	p.P50P		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	50						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)		TCATGTCGGGCGGCAGCTCGC	0.776													5	17					0	0	1	0	0	T	111217282	C	T	111217282	2	4	255	1	0	0	0	0	0	0	0	1	8048	755	27	1		1	KCNA3	1	111217282	Silent	SNP	C	TCGA-KK-A6E7-01A-11D-A31L-08	1422729	111217282	138033339	3	13337											
PI4KB	5298	broad.mit.edu	37	chr1	151288289	151288289	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtcgttgagtggaaatgtgCatgtctgaagaataggcccc	10	11	13	7	1	1	3	0	2	1	1	2	4	1	4	2	2	1	2	2	2	4	2			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr1:151288289C>T	ENST00000368875.2	-	3	1285	c.705G>A	c.(703-705)atG>atA	p.M235I	PI4KB_ENST00000529142.1_Intron|PI4KB_ENST00000368873.1_Missense_Mutation_p.M223I|PI4KB_ENST00000368874.4_Missense_Mutation_p.M223I|PI4KB_ENST00000368872.1_Missense_Mutation_p.M223I|PI4KB_ENST00000271657.5_Missense_Mutation_p.M235I	NM_002651.2	NP_002642.1	Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	223					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGGAAATGTGCATGTCTGAAG	0.542													23	34					0	0	1	0	0	T	151288289	C	T	151288289	3	4	255	1	0	0	0	0	1	0	0	0	11922	710	25	2	1825	2	PI4KB	1	151288289	Missense_Mutation	SNP	C	TCGA-KK-A6E7-01A-11D-A31L-08	40071007	151288289	97962332	4	13338											
TRIM67	440730	broad.mit.edu	37	chr1	231333193	231333193	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtttctggttcagctaaagaAcatattgcagcagatccagg	12	11	10	8	0	2	2	1	0	1	2	3	2	3	2	1	2	4	5	1	2	4	5			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr1:231333193A>G	ENST00000444294.3	+	2	1979	c.1121A>G	c.(1120-1122)aAc>aGc	p.N374S	TRIM67_ENST00000366653.5_Missense_Mutation_p.N374S|TRIM67_ENST00000449018.3_Missense_Mutation_p.N312S|TRIM67_ENST00000366652.2_Missense_Mutation_p.N374S	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	374						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				CAGCTAAAGAACATATTGCAG	0.433													3	67					0	0	1	0	0	G	231333193	A	G	231333193	3	3	255	1	0	0	0	0	1	0	0	0	16601	43	2	3	1127	3	TRIM67	1	231333193	Missense_Mutation	SNP	A	TCGA-KK-A6E7-01A-11D-A31L-08	80044904	231333193	17917428	5	13339											
TTN	7273	broad.mit.edu	37	chr2	179554578	179554578	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctttttctttgcaacaggaAcgggaatcttttcttcaggg	8	15	9	9	1	4	0	1	0	3	0	4	2	4	2	1	3	3	1	1	3	3	6			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr2:179554578A>G	ENST00000589042.1	-	122	32032	c.31808T>C	c.(31807-31809)gTt>gCt	p.V10603A	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V10286A|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V9359A|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10286	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCAACAGGAACGGGAATCTT	0.378													13	169					0	0	1	0	0	G	179554578	A	G	179554578	3	3	255	1	0	0	0	0	1	0	0	0	16797	43	2	3	72685	3	TTN	2	179554578	Missense_Mutation	SNP	A	TCGA-KK-A6E7-01A-11D-A31L-08		179554578	63644795	6	13340											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	12	13	8	8	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	4	6	rs121913499		TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000446179.1_Missense_Mutation_p.R132C|IDH1_ENST00000345146.2_Missense_Mutation_p.R132C			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								15	40					0	0	1	0	0	A	209113113	G	A	209113113	3	1	255	1	0	0	0	0	1	0	0	0	7538	1058	37	1	878	1	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-KK-A6E7-01A-11D-A31L-08	29558535	209113113	34086260	7	13341											
KIF1A	547	broad.mit.edu	37	chr2	241689870	241689870	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatggcctggacggccacgcGgaggaagcccttcacctcgc	7	5	14	15	4	1	0	1	0	0	0	2	4	1	3	4	5	1	0	4	5	1	1			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr2:241689870G>A	ENST00000498729.2	-	28	3199	c.2953C>T	c.(2953-2955)Cgc>Tgc	p.R985C	KIF1A_ENST00000320389.7_Missense_Mutation_p.R884C	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	884					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		ACGGCCACGCGGAGGAAGCCC	0.657													9	40					0	0	1	0	0	A	241689870	G	A	241689870	3	1	255	1	0	0	0	0	1	0	0	0	8325	1116	39	1	2510	1	KIF1A	2	241689870	Missense_Mutation	SNP	G	TCGA-KK-A6E7-01A-11D-A31L-08	32576757	241689870	1509503	8	13342											
MST1	4485	broad.mit.edu	37	chr3	49723596	49723596	+	Missense_Mutation	SNP	G	G	A																															agggcgcctctgagccgtcgGggttccggcagaagttctcc																										TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr3:49723596G>A	ENST00000449682.2	-	9	1407	c.1046C>T	c.(1045-1047)cCc>cTc	p.P349L	MST1_ENST00000383728.3_3'UTR	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	335	Kringle 3.				proteolysis	extracellular region	serine-type endopeptidase activity	p.P335L(5)		NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGAGCCGTCGGGGTTCCGGCA	0.667													3	42					0	0	1	0	0	A	49723596	G	A	49723596	3	1	255	1	0	0	0	0	1	0	0	0	9938	1232	43	2	1171	2	MST1	3	49723596	Missense_Mutation	SNP	G	TCGA-KK-A6E7-01A-11D-A31L-08		49723596	148298834	9	13343	68	2									
MST1	4485	broad.mit.edu	37	chr3	49723603	49723603	+	Missense_Mutation	SNP	G	G	A																															ctctgagccgtcggggttccGgcagaagttctcccgaaggt																										TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr3:49723603G>A	ENST00000449682.2	-	9	1400	c.1039C>T	c.(1039-1041)Cgg>Tgg	p.R347W	MST1_ENST00000383728.3_3'UTR	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	333	Kringle 3.				proteolysis	extracellular region	serine-type endopeptidase activity	p.R333W(5)		NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TCGGGGTTCCGGCAGAAGTTC	0.662													3	42					0	0	1	0	0	A	49723603	G	A	49723603	3	1	255	1	0	0	0	0	1	0	0	0	9938	1115	39	1	1178	1	MST1	3	49723603	Missense_Mutation	SNP	G	TCGA-KK-A6E7-01A-11D-A31L-08	7	49723603	148298827	10	13344	68	2									
NIPBL	25836	broad.mit.edu	37	chr5	37038775	37038775	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctttgttcttattcagcaaaAtaagaccccagctcatggtt	11	14	6	10	0	3	1	2	0	1	1	3	1	3	1	2	1	2	4	2	1	4	6			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr5:37038775A>G	ENST00000282516.8	+	34	6542	c.6043A>G	c.(6043-6045)Ata>Gta	p.I2015V	NIPBL_ENST00000448238.2_Missense_Mutation_p.I2015V	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2015					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ATTCAGCAAAATAAGACCCCA	0.363													11	25					0	0	1	0	0	G	37038775	A	G	37038775	3	3	255	1	0	0	0	0	1	0	0	0	10475	101	4	3	6173	3	NIPBL	5	37038775	Missense_Mutation	SNP	A	TCGA-KK-A6E7-01A-11D-A31L-08		37038775	143876485	11	13345											
FAT2	2196	broad.mit.edu	37	chr5	150923936	150923936	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtggcttcagaaaatgacCccagagctgtatccgtggct	9	10	11	11	1	1	3	1	1	0	2	2	3	2	3	3	2	1	4	3	2	3	2			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr5:150923936C>G	ENST00000261800.5	-	9	6764	c.6752G>C	c.(6751-6753)gGg>gCg	p.G2251A		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2251	Cadherin 19.				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)			AGAAAATGACCCCAGAGCTGT	0.478													13	41					0	0	1	0	0	G	150923936	C	G	150923936	3	3	255	1	0	0	0	0	1	0	0	0	5723	623	22	4	6357	4	FAT2	5	150923936	Missense_Mutation	SNP	C	TCGA-KK-A6E7-01A-11D-A31L-08	113885161	150923936	29991324	12	13346											
WRNIP1	56897	broad.mit.edu	37	chr6	2770371	2770371	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggacactttccttcctcaCgtggaatgtgggacgatcac	9	11	10	11	2	2	0	2	0	0	0	4	4	4	3	2	3	0	0	2	3	2	3			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr6:2770371C>T	ENST00000380769.4	+	3	603	c.372C>T	c.(370-372)caC>caT	p.H124H	WRNIP1_ENST00000380773.4_Silent_p.H344H|WRNIP1_ENST00000380771.4_Intron|WRNIP1_ENST00000380764.1_5'UTR			Q96S55	WRIP1_HUMAN	Werner helicase interacting protein 1	344					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				TCCTTCCTCACGTGGAATGTG	0.488													24	51					0	0	1	0	0	T	2770371	C	T	2770371	2	4	255	1	0	0	0	0	0	0	0	1	17463	535	19	1		1	WRNIP1	6	2770371	Silent	SNP	C	TCGA-KK-A6E7-01A-11D-A31L-08		2770371	168344696	13	13347											
SPDYE3	441272	broad.mit.edu	37	chr7	99909507	99909507	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacctgggtggcagagacgCtgtgtggcctcaagatgaag	10	7	16	8	1	1	4	1	1	0	3	1	5	1	4	2	3	0	2	2	3	2	0			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr7:99909507C>T	ENST00000332397.6	+	4	863	c.679C>T	c.(679-681)Ctg>Ttg	p.L227L	SPDYE3_ENST00000437326.2_5'UTR	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	227										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						GGCAGAGACGCTGTGTGGCCT	0.587													40	80					0	0	1	0	0	T	99909507	C	T	99909507	2	4	255	1	0	0	0	0	0	0	0	1	15088	796	28	2		2	SPDYE3	7	99909507	Silent	SNP	C	TCGA-KK-A6E7-01A-11D-A31L-08		99909507	59229156	14	13348											
AKR1D1	6718	broad.mit.edu	37	chr7	137790074	137790074	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgatggaagcttgcaaagacGctggcttggtgaaatccctg	10	9	13	9	2	0	2	0	1	0	1	1	4	1	3	1	3	2	4	1	3	3	2			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr7:137790074G>C	ENST00000242375.3	+	5	520	c.478G>C	c.(478-480)Gct>Cct	p.A160P	AKR1D1_ENST00000432161.1_Missense_Mutation_p.A160P|AKR1D1_ENST00000468877.2_3'UTR|AKR1D1_ENST00000411726.2_Intron	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	160					androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						TTGCAAAGACGCTGGCTTGGT	0.478													61	113					0	0	1	0	0	C	137790074	G	C	137790074	3	2	255	1	0	0	0	0	1	0	0	0	470	1087	38	4	496	4	AKR1D1	7	137790074	Missense_Mutation	SNP	G	TCGA-KK-A6E7-01A-11D-A31L-08	37880567	137790074	21348589	15	13349											
MGAM	8972	broad.mit.edu	37	chr7	141767225	141767225	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcagccctgtcctggagcgCgtgagtatggaggcctccga	6	8	15	12	3	1	1	1	1	0	0	3	4	3	3	4	3	2	1	4	3	1	1	rs7778384	by1000genomes	TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr7:141767225C>T	ENST00000475668.2	+	42	5058	c.5004_splice	c.e42+1	p.R1668_splice	MGAM_ENST00000549489.2_Intron			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1668	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCCTGGAGCGCGTGAGTATGG	0.592													3	23					0	0	1	0	0	T	141767225	C	T	141767225	5	4	255	1	0	0	0	0	0	0	1	0	9591	783	27	1		1	MGAM	7	141767225	Splice_Site	SNP	C	TCGA-KK-A6E7-01A-11D-A31L-08	3977151	141767225	17371438	16	13350											
KIAA2026	158358	broad.mit.edu	37	chr9	5920338	5920338	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaatcataatctgagtaccAggtgccaaaggtgtactggt	12	12	10	7	0	2	1	1	1	1	0	2	1	2	1	2	3	3	2	2	3	5	4			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr9:5920338A>T	ENST00000399933.3	-	8	5657	c.5658T>A	c.(5656-5658)ccT>ccA	p.P1886P	KIAA2026_ENST00000381461.2_Silent_p.P1856P	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1886										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TCTGAGTACCAGGTGCCAAAG	0.428													4	185					0	0	1	0	0	T	5920338	A	T	5920338	2	4	255	1	0	0	0	0	0	0	0	1	8312	175	7	5		5	KIAA2026	9	5920338	Silent	SNP	A	TCGA-KK-A6E7-01A-11D-A31L-08		5920338	135293093	17	13351											
PTEN	5728	broad.mit.edu	37	chr10	89717715	89717716	+	Frame_Shift_Ins	INS	-	-	A																															tttgagttccctcagccgttINSacctgtgtgtggtgatatca																										TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr10:89717715_89717716insA	ENST00000371953.3	+	7	2097_2098	c.740_741insA	c.(739-741)tccfs	p.S247fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	247	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.P248fs*5(13)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.L247*(2)|p.G165_*404del(1)|p.L247fs*6(1)|p.?(1)|p.L247fs*5(1)|p.L247fs*4(1)|p.L247F(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CCTCAGCCGTTACCTGTGTGTG	0.406		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			16	14	---	---	---	---						A	89717716	-	A	89717715	7	5	255	1	0	1	1	0	0	0	0	0	12787	1764	61	0	766	0	PTEN	10	89717715	Frame_Shift_Ins	INS	-	TCGA-KK-A6E7-01A-11D-A31L-08		89717715	45817032	18	13352											
CPEB3	22849	broad.mit.edu	37	chr10	93999747	93999747	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gatcccctggaagaagctgtCctctaccgcgttggtggtgc	6	10	13	12	2	1	1	0	0	1	1	3	3	3	2	4	3	3	2	4	3	3	2			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr10:93999747C>G	ENST00000412050.4	-	2	449	c.361G>C	c.(361-363)Gac>Cac	p.D121H	CPEB3_ENST00000265997.4_Missense_Mutation_p.D121H	NM_001178137.1	NP_001171608.1	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	121	Pro-rich.						nucleotide binding|RNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				AAGAAGCTGTCCTCTACCGCG	0.667													5	7					0	0	1	0	0	G	93999747	C	G	93999747	3	3	255	1	0	0	0	0	1	0	0	0	3825	855	30	4	1798	4	CPEB3	10	93999747	Missense_Mutation	SNP	C	TCGA-KK-A6E7-01A-11D-A31L-08	4282032	93999747	41535000	19	13353											
OR9Q1	219956	broad.mit.edu	37	chr11	57947006	57947006	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcactccctctcttcctcttGtttttatttatgtatctcat	5	21	3	12	0	3	0	1	0	3	0	7	0	5	0	2	0	0	3	2	0	3	8			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr11:57947006G>T	ENST00000335397.3	+	3	406	c.90G>T	c.(88-90)ttG>ttT	p.L30F		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				TCTTCCTCTTGTTTTTATTTA	0.448													4	144					0.000602214	0.000613577	1	1	0	T	57947006	G	T	57947006	3	4	255	1	0	0	0	0	1	0	0	0	11302	1368	48	4	92	4	OR9Q1	11	57947006	Missense_Mutation	SNP	G	TCGA-KK-A6E7-01A-11D-A31L-08		57947006	77059510	20	13354											
ATG2A	23130	broad.mit.edu	37	chr11	64669827	64669827	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccgtctccactggggggCacgagggcagagaggcagga	8	3	20	10	2	1	1	0	0	1	1	2	4	1	2	2	7	0	3	2	7	0	0			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr11:64669827C>T	ENST00000421419.2	-	28	3929	c.3815G>A	c.(3814-3816)tGc>tAc	p.C1272Y	ATG2A_ENST00000377264.3_Missense_Mutation_p.C1270Y			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1270							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						CACTGGGGGGCACGAGGGCAG	0.687													9	10					0	0	1	0	0	T	64669827	C	T	64669827	3	4	255	1	0	0	0	0	1	0	0	0	1092	710	25	2	2063	2	ATG2A	11	64669827	Missense_Mutation	SNP	C	TCGA-KK-A6E7-01A-11D-A31L-08	6722821	64669827	70336689	21	13355											
LRRIQ1	84125	broad.mit.edu	37	chr12	85450803	85450803	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attgaagaaaggagactagcCtggataaaatcatttaaacc	18	9	8	6	0	1	3	1	1	0	2	1	5	1	4	2	2	2	0	2	2	7	5			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr12:85450803C>T	ENST00000393217.2	+	8	2293	c.2232C>T	c.(2230-2232)gcC>gcT	p.A744A		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	744										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GGAGACTAGCCTGGATAAAAT	0.368													101	225					0	0	1	0	0	T	85450803	C	T	85450803	2	4	255	1	0	0	0	0	0	0	0	1	9074	668	24	2		2	LRRIQ1	12	85450803	Silent	SNP	C	TCGA-KK-A6E7-01A-11D-A31L-08		85450803	48401092	22	13356											
ZNF268	10795	broad.mit.edu	37	chr12	133780636	133780636	+	Frame_Shift_Del	DEL	T	T	-																															tgcagtgaatgtgggaaagcTtttagcagcaagtcatacct																										TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr12:133780636delT	ENST00000536435.2	+	6	2694	c.2364delT	c.(2362-2364)gcfs	p.A788fs	ZNF268_ENST00000537565.1_Frame_Shift_Del_p.A627fs|ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000228289.5_Frame_Shift_Del_p.A788fs	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268	788						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		GTGGGAAAGCTTTTAGCAGCA	0.408													2	4	---	---	---	---						-	133780636	T	-	133780636	7	5	255	1	0	1	0	1	0	0	0	0	17865	1596	56	0		0	ZNF268	12	133780636	Frame_Shift_Del	DEL	T	TCGA-KK-A6E7-01A-11D-A31L-08	48329833	133780636	71259	23	13357											
PARP4	143	broad.mit.edu	37	chr13	25044068	25044068	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcccattgatgaaggcttcGaagccacacacagcggcctt	10	9	9	13	2	0	2	0	2	0	0	2	3	1	2	3	2	2	1	3	2	2	4	rs146166448	by1000genomes	TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr13:25044068G>A	ENST00000381989.3	-	16	2115	c.2010C>T	c.(2008-2010)ttC>ttT	p.F670F		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	670	VIT.				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TGAAGGCTTCGAAGCCACACA	0.458													3	19					0	0	1	0	0	A	25044068	G	A	25044068	2	1	255	1	0	0	0	0	0	0	0	1	11510	1049	37	1		1	PARP4	13	25044068	Silent	SNP	G	TCGA-KK-A6E7-01A-11D-A31L-08		25044068	90125810	24	13358											
SSTR5	0	broad.mit.edu	37	chr16	1129911	1129911	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcagcaggaggccacgcCacccgcgcaccgcgccgcag	8	0	14	19	6	0	0	0	0	0	0	0	1	0	1	5	2	2	5	5	2	0	0			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr16:1129911C>T	ENST00000293897.4	+	1	1131	c.1043C>T	c.(1042-1044)cCa>cTa	p.P348L	SSTR5_ENST00000562758.1_Intron|SSTR5_ENST00000397547.2_Missense_Mutation_p.P348L	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	348				PPAHR -> RPRT (in Ref. 1; AAA20828).	negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)	GAGGCCACGCCACCCGCGCAC	0.701													3	12					0	0	1	0	0	T	1129911	C	T	1129911	3	4	255	1	0	0	0	0	1	0	0	0	15257	594	21	2	1045	2	SSTR5	16	1129911	Missense_Mutation	SNP	C	TCGA-KK-A6E7-01A-11D-A31L-08		1129911	89224842	25	13359											
ZBTB4	57659	broad.mit.edu	37	chr17	7366351	7366351	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctttgattcctcctcatcCtcctcctcctcctcttcgtc	2	16	3	20	1	2	1	1	1	1	0	11	1	9	1	8	0	0	0	8	0	0	3			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr17:7366351C>A	ENST00000311403.4	-	4	2289	c.1950G>T	c.(1948-1950)gaG>gaT	p.E650D	ZBTB4_ENST00000380599.4_Missense_Mutation_p.E650D	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	650	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		cctcctcatcctcctcctcct	0.607													4	41					2.56e-06	2.71059e-06	1	1	0	A	7366351	C	A	7366351	3	1	255	1	0	0	0	0	1	0	0	0	17600	680	24	4	1095	4	ZBTB4	17	7366351	Missense_Mutation	SNP	C	TCGA-KK-A6E7-01A-11D-A31L-08		7366351	73828859	26	13360											
TNFAIP1	7126	broad.mit.edu	37	chr17	26666643	26666643	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaacaagtatgtccagctCaacgtgggcggctctctgta	9	9	12	11	2	2	0	1	0	1	0	4	0	3	0	1	3	3	5	1	3	5	2			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr17:26666643C>A	ENST00000226225.2	+	2	363	c.96C>A	c.(94-96)ctC>ctA	p.L32L	TNFAIP1_ENST00000583213.1_Intron|TNFAIP1_ENST00000544907.2_Intron	NM_021137.4	NP_066960.1	Q13829	BACD2_HUMAN	tumor necrosis factor, alpha-induced protein 1 (endothelial)	32	BTB.				apoptosis|cell migration|DNA replication|embryo development|immune response|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|endosome|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	12	all_lung(13;0.000294)|Lung NSC(42;0.000964)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		ATGTCCAGCTCAACGTGGGCG	0.637													24	64					2.32416e-17	2.56132e-17	1	1	0	A	26666643	C	A	26666643	2	1	255	1	0	0	0	0	0	0	0	1	16332	813	29	4		4	TNFAIP1	17	26666643	Silent	SNP	C	TCGA-KK-A6E7-01A-11D-A31L-08	19300292	26666643	54528567	27	13361											
CA10	56934	broad.mit.edu	37	chr17	49710999	49710999	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggttctggctgagcaggcGcaaggaatgcatctgaggag	9	8	16	8	1	2	2	0	2	2	0	2	4	2	4	0	5	2	5	0	5	2	1			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr17:49710999G>A	ENST00000451037.2	-	8	1742	c.802C>T	c.(802-804)Cgc>Tgc	p.R268C	CA10_ENST00000570565.1_Missense_Mutation_p.R193C|CA10_ENST00000442502.2_Missense_Mutation_p.R268C|CA10_ENST00000340813.6_Missense_Mutation_p.R274C|CA10_ENST00000285273.4_Missense_Mutation_p.R268C	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	268					brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			CTGAGCAGGCGCAAGGAATGC	0.512													10	66					0	0	1	0	0	A	49710999	G	A	49710999	3	1	255	1	0	0	0	0	1	0	0	0	2529	1087	38	1	192	1	CA10	17	49710999	Missense_Mutation	SNP	G	TCGA-KK-A6E7-01A-11D-A31L-08	23044356	49710999	31484211	28	13362											
DNAH17	8632	broad.mit.edu	37	chr17	76563157	76563157	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaagacctcatcatagataCgggtcaccaggctcccgagg	12	6	10	13	2	3	2	3	0	0	2	4	3	4	2	3	3	1	1	3	3	3	2	rs143602861	byFrequency	TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr17:76563157C>T	ENST00000389840.5	-	10	1500	c.1376G>A	c.(1375-1377)cGt>cAt	p.R459H	DNAH17_ENST00000585328.1_Missense_Mutation_p.R459H					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ATCATAGATACGGGTCACCAG	0.527													3	28					0	0	1	0	0	T	76563157	C	T	76563157	3	4	255	1	0	0	0	0	1	0	0	0	4629	536	19	1	12300	1	DNAH17	17	76563157	Missense_Mutation	SNP	C	TCGA-KK-A6E7-01A-11D-A31L-08	26852158	76563157	4632053	29	13363											
GPS1	2873	broad.mit.edu	37	chr17	80013939	80013939	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccttggctacctttgaccgGcaggagctgcagcgcaatgt	7	9	13	12	2	0	1	0	1	0	0	0	2	0	2	3	3	4	5	3	3	2	3			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr17:80013939G>A	ENST00000392358.2	+	8	1366	c.1017G>A	c.(1015-1017)cgG>cgA	p.R339R	GPS1_ENST00000578552.1_Silent_p.R299R|GPS1_ENST00000306823.6_Silent_p.R303R|GPS1_ENST00000355130.2_Silent_p.R339R|GPS1_ENST00000320548.4_Silent_p.R283R	NM_212492.1	NP_997657.1	Q13098	CSN1_HUMAN	G protein pathway suppressor 1	303	PCI.				cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade	cytoplasm|signalosome	GTPase inhibitor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2)	13	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			CCTTTGACCGGCAGGAGCTGC	0.652													4	39					0	0	1	0	0	A	80013939	G	A	80013939	2	1	255	1	0	0	0	0	0	0	0	1	6773	1190	42	2		2	GPS1	17	80013939	Silent	SNP	G	TCGA-KK-A6E7-01A-11D-A31L-08	3450782	80013939	1181271	30	13364											
TBCD	6904	broad.mit.edu	37	chr17	80900326	80900327	+	Splice_Site	INS	-	-	T																															gtcttgtctcttcttcagccINStggtgcctgctgaagccagt																										TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr17:80900326_80900327insT	ENST00000355528.4	+	39	3696_3697	c.3564_splice	c.e39-1	p.R1189_splice	TBCD_ENST00000576691.1_3'UTR|TBCD_ENST00000539345.2_Splice_Site_p.R1227_splice	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	1189					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			CTTCTTCAGCCTGGTGCCTGCT	0.619													31	46	---	---	---	---						T	80900327	-	T	80900326	8	5	255	1	0	1	1	0	0	0	1	0	15693	695	24	0	3720	0	TBCD	17	80900326	Splice_Site	INS	-	TCGA-KK-A6E7-01A-11D-A31L-08	886387	80900326	294884	31	13365											
TCEB3B	51224	broad.mit.edu	37	chr18	44560758	44560758	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctccaaggcagggacaCgctggccgctgccagcttgc	6	6	12	17	2	0	0	0	0	0	0	2	1	2	1	5	3	3	4	5	3	1	1			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr18:44560758C>T	ENST00000332567.4	-	1	1230	c.878G>A	c.(877-879)cGt>cAt	p.R293H	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	293					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGCAGGGACACGCTGGCCGCT	0.627													51	92					0	0	1	0	0	T	44560758	C	T	44560758	3	4	255	1	0	0	0	0	1	0	0	0	15742	536	19	1	1387	1	TCEB3B	18	44560758	Missense_Mutation	SNP	C	TCGA-KK-A6E7-01A-11D-A31L-08		44560758	33516490	32	13366											
MUC16	94025	broad.mit.edu	37	chr19	9057963	9057963	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctgagtcagctaggacagagGaatgagattcatgaacagaa	16	7	12	6	0	2	5	2	3	0	3	2	8	2	7	0	2	2	1	0	2	4	2			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr19:9057963G>A	ENST00000397910.4	-	3	29686	c.29483C>T	c.(29482-29484)tCc>tTc	p.S9828F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9830	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAGGACAGAGGAATGAGATTC	0.463													38	66					0	0	1	0	0	A	9057963	G	A	9057963	3	1	255	1	0	0	0	0	1	0	0	0	10021	1174	41	2	14368	2	MUC16	19	9057963	Missense_Mutation	SNP	G	TCGA-KK-A6E7-01A-11D-A31L-08		9057963	50071020	33	13367											
MUC16	94025	broad.mit.edu	37	chr19	9091118	9091118	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaaggaaggaagaataaaGtgtcccaaatgatgggtttg	15	9	13	4	0	1	2	1	1	0	1	2	4	2	4	1	3	0	1	1	3	7	2			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr19:9091118G>T	ENST00000397910.4	-	1	900	c.697C>A	c.(697-699)Ctt>Att	p.L233I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	233	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAAGAATAAAGTGTCCCAAAT	0.463													5	68					3.59834e-05	3.73673e-05	1	1	0	T	9091118	G	T	9091118	3	4	255	1	0	0	0	0	1	0	0	0	10021	1029	36	4	43162	4	MUC16	19	9091118	Missense_Mutation	SNP	G	TCGA-KK-A6E7-01A-11D-A31L-08	33155	9091118	50037865	34	13368											
SBSN	374897	broad.mit.edu	37	chr19	36018836	36018836	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcagcgttgttgaccccatgGccaagcttctctgcttcctt	5	13	9	14	1	1	1	0	1	1	0	3	1	2	1	4	1	3	5	4	1	1	5			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr19:36018836G>A	ENST00000452271.2	-	1	376	c.348C>T	c.(346-348)ggC>ggT	p.G116G	SBSN_ENST00000518157.1_Silent_p.G116G	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	116	Ala/Gly/His-rich.					extracellular region				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TGACCCCATGGCCAAGCTTCT	0.572													10	170					0	0	1	0	0	A	36018836	G	A	36018836	2	1	255	1	0	0	0	0	0	0	0	1	13917	1190	42	2		2	SBSN	19	36018836	Silent	SNP	G	TCGA-KK-A6E7-01A-11D-A31L-08	26927718	36018836	23110147	35	13369											
C19orf47	126526	broad.mit.edu	37	chr19	40828229	40828229	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtcattgtcgctgtcccaagCcagatcctcgtccgtttctg	5	13	9	14	3	2	1	1	0	1	1	7	1	5	1	4	0	1	2	4	0	1	2			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr19:40828229C>A	ENST00000582783.1	-	9	841	c.829G>T	c.(829-831)Gct>Tct	p.A277S	C19orf47_ENST00000584868.1_5'UTR|C19orf47_ENST00000392035.2_Missense_Mutation_p.A210S	NM_001256440.1	NP_001243369.1	Q8N9M1	CS047_HUMAN	chromosome 19 open reading frame 47	277										endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20			Lung(22;0.000636)			CTGTCCCAAGCCAGATCCTCG	0.612													16	35					1.37285e-15	1.48268e-15	1	1	0	A	40828229	C	A	40828229	3	1	255	1	0	0	0	0	1	0	0	0	1942	739	26	4	443	4	C19orf47	19	40828229	Missense_Mutation	SNP	C	TCGA-KK-A6E7-01A-11D-A31L-08	4809393	40828229	18300754	36	13370											
ARHGEF1	0	broad.mit.edu	37	chr19	42409353	42409353	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgctctcatcactgagactgCcggatccctgaaagtccctg	8	10	9	14	1	2	2	2	2	1	1	5	4	4	3	3	1	2	1	3	1	1	0			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr19:42409353C>T	ENST00000599846.1	+	25	2569	c.2444C>T	c.(2443-2445)gCc>gTc	p.A815V	ARHGEF1_ENST00000347545.4_Missense_Mutation_p.A726V|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.A774V|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.A741V|ARHGEF1_ENST00000354532.3_Missense_Mutation_p.A759V			Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	759					cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		ACTGAGACTGCCGGATCCCTG	0.662													4	89					0	0	1	0	0	T	42409353	C	T	42409353	3	4	255	1	0	0	0	0	1	0	0	0	890	739	26	2	2415	2	ARHGEF1	19	42409353	Missense_Mutation	SNP	C	TCGA-KK-A6E7-01A-11D-A31L-08	1581124	42409353	16719630	37	13371											
LILRA5	353514	broad.mit.edu	37	chr19	54822890	54822890	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcagtcagaatgaacctgTcgaatctcagccgtgagcca	11	8	9	13	2	3	3	3	2	1	1	5	4	3	3	4	0	3	0	4	0	3	0			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr19:54822890T>G	ENST00000301219.3	-	5	625	c.506A>C	c.(505-507)gAc>gCc	p.D169A	LILRA5_ENST00000346508.3_Missense_Mutation_p.D157A|AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000432233.3_Missense_Mutation_p.D169A|LILRA5_ENST00000446712.3_Missense_Mutation_p.D157A	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	169	Ig-like C2-type 2.				innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AATGAACCTGTCGAATCTCAG	0.587													34	58					0	0	1	0	0	G	54822890	T	G	54822890	3	3	255	1	0	0	0	0	1	0	0	0	8828	1667	58	5	491	5	LILRA5	19	54822890	Missense_Mutation	SNP	T	TCGA-KK-A6E7-01A-11D-A31L-08	12413537	54822890	4306093	38	13372											
RBPJL	11317	broad.mit.edu	37	chr20	43943137	43943137	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acaagtgtgcattccagtttCcaggcagtcccccaggaggg	9	8	12	12	0	0	0	0	0	0	0	3	1	3	1	4	3	1	3	4	3	1	2			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chr20:43943137C>A	ENST00000343694.3	+	9	1024	c.952C>A	c.(952-954)Cca>Aca	p.P318T	RBPJL_ENST00000464504.1_3'UTR|RBPJL_ENST00000372743.1_Missense_Mutation_p.P318T|RBPJL_ENST00000372741.3_Missense_Mutation_p.P318T	NM_014276.2	NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	318					signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				ATTCCAGTTTCCAGGCAGTCC	0.522													4	123					0.00909568	0.00909568	1	1	0	A	43943137	C	A	43943137	3	1	255	1	0	0	0	0	1	0	0	0	13214	855	30	4	986	4	RBPJL	20	43943137	Missense_Mutation	SNP	C	TCGA-KK-A6E7-01A-11D-A31L-08		43943137	19082383	39	13373											
DCAF12L2	340578	broad.mit.edu	37	chrX	125299264	125299264	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tccgccacagagccacggtgCcgtcgcgggagccgctcaca	7	4	13	17	6	1	1	1	0	0	1	3	2	2	2	5	2	3	1	5	2	0	0			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chrX:125299264C>T	ENST00000538699.1	-	2	724	c.644G>A	c.(643-645)gGc>gAc	p.G215D	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.G215D	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	215										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						AGCCACGGTGCCGTCGCGGGA	0.642													10	22					0	0	1	0	0	T	125299264	C	T	125299264	3	4	255	1	0	0	0	0	1	0	0	0	4289	739	26	2	751	2	DCAF12L2	23	125299264	Missense_Mutation	SNP	C	TCGA-KK-A6E7-01A-11D-A31L-08		125299264	29971296	40	13374											
XPNPEP2	7512	broad.mit.edu	37	chrX	128901598	128901598	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtacccagggagctacctgaCctttgaagtggtatcatttg	9	12	11	9	0	1	2	1	2	0	0	1	3	1	3	3	2	3	3	3	2	4	5			TCGA-KK-A6E7-01A-11D-A31L-08	TCGA-KK-A6E7-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6bde582d-6c64-4529-9771-e7f9df342b04	8a82ccc3-d5f6-4647-9699-604814692936	g.chrX:128901598C>G	ENST00000371106.3	+	20	1952	c.1760C>G	c.(1759-1761)aCc>aGc	p.T587S		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	587					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						AGCTACCTGACCTTTGAAGTG	0.567													54	17					0	0	1	0	0	G	128901598	C	G	128901598	3	3	255	1	0	0	0	0	1	0	0	0	17503	507	18	4	1838	4	XPNPEP2	23	128901598	Missense_Mutation	SNP	C	TCGA-KK-A6E7-01A-11D-A31L-08	3602334	128901598	26368962	41	13375											
TMCO4	255104	broad.mit.edu	37	chr1	20073664	20073664	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctggactcaccgatcaccGttccgcctccgacagtcgcc	7	7	9	18	5	2	0	2	0	0	0	5	3	4	1	6	1	1	2	6	1	0	1	rs146596460		TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr1:20073664G>A	ENST00000294543.6	-	8	846	c.605C>T	c.(604-606)aCg>aTg	p.T202M	TMCO4_ENST00000375122.2_Missense_Mutation_p.T202M|TMCO4_ENST00000375127.1_Missense_Mutation_p.T202M	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	202						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		ACCGATCACCGTTCCGCCTCC	0.547													229	317					0	0	1	0	0	A	20073664	G	A	20073664	3	1	256	1	0	0	0	0	1	0	0	0	16058	1145	40	1	1335	1	TMCO4	1	20073664	Missense_Mutation	SNP	G	TCGA-KK-A6E8-01A-11D-A31L-08		20073664	229176957	1	13376											
EFCAB7	84455	broad.mit.edu	37	chr1	63999809	63999809	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcagcaaccaggaagttcaaAacatctgtttccttcacagt	13	11	6	11	0	4	0	3	0	1	0	5	1	5	1	2	1	3	3	2	1	4	3			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr1:63999809A>T	ENST00000371088.4	+	6	972	c.726A>T	c.(724-726)aaA>aaT	p.K242N		NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	242							calcium ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						GGAAGTTCAAAACATCTGTTT	0.363													17	58					0	0	1	0	0	T	63999809	A	T	63999809	3	4	256	1	0	0	0	0	1	0	0	0	4966	11	1	5	744	5	EFCAB7	1	63999809	Missense_Mutation	SNP	A	TCGA-KK-A6E8-01A-11D-A31L-08	43926145	63999809	185250812	2	13377											
GBP3	2635	broad.mit.edu	37	chr1	89479884	89479885	+	Frame_Shift_Del	DEL	AA	AA	-																															aaatctgggaagaagctcacAaagtcagctgaatcctcatt																										TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr1:89479884_89479885delAA	ENST00000370481.4	-	5	726_727	c.506_507delTT	c.(505-507)tfs	p.F169fs		NM_018284.2	NP_060754.2	Q9H0R5	GBP3_HUMAN	guanylate binding protein 3	169						integral to membrane	GTP binding|GTPase activity			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		AGAAGCTCACAAAGTCAGCTGA	0.455													32	58	---	---	---	---						-	89479885	AA	-	89479884	7	5	256	1	0	1	0	1	0	0	0	0	6315	127	5	0	1308	0	GBP3	1	89479884	Frame_Shift_Del	DEL	AA	TCGA-KK-A6E8-01A-11D-A31L-08	25480075	89479884	159770737	3	13378											
ZNF326	284695	broad.mit.edu	37	chr1	90482961	90482961	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tggaaagttcttcacatcagGaaacattagatcatatacag	16	11	7	7	0	4	1	3	0	1	1	4	3	4	3	0	2	2	1	0	2	5	5			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr1:90482961G>C	ENST00000340281.4	+	8	1155	c.1012G>C	c.(1012-1014)Gaa>Caa	p.E338Q	ZNF326_ENST00000455342.2_Missense_Mutation_p.E132Q|ZNF326_ENST00000370447.2_Missense_Mutation_p.E249Q	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	338					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)		TTCACATCAGGAAACATTAGA	0.294													11	15					0	0	1	0	0	C	90482961	G	C	90482961	3	2	256	1	0	0	0	0	1	0	0	0	17903	1175	41	4	1046	4	ZNF326	1	90482961	Missense_Mutation	SNP	G	TCGA-KK-A6E8-01A-11D-A31L-08	1003077	90482961	158767660	4	13379											
WDR3	10885	broad.mit.edu	37	chr1	118479418	118479418	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatattattgtatgggatgtGatcaatgaaagtggtctgta	12	15	12	2	0	2	2	1	2	1	0	2	4	2	3	0	2	0	2	0	2	6	5			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr1:118479418G>T	ENST00000349139.4	+	4	455	c.408G>T	c.(406-408)gtG>gtT	p.V136V	WDR3_ENST00000471680.1_3'UTR|WDR3_ENST00000369441.3_3'UTR	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	136						nuclear membrane|nucleolus				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		TATGGGATGTGATCAATGAAA	0.368													21	26					2.98393e-07	3.25035e-07	1	1	0	T	118479418	G	T	118479418	2	4	256	1	0	0	0	0	0	0	0	1	17345	1277	45	4		4	WDR3	1	118479418	Silent	SNP	G	TCGA-KK-A6E8-01A-11D-A31L-08	27996457	118479418	130771203	5	13380											
HMCN1	83872	broad.mit.edu	37	chr1	186056762	186056762	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgatggacaaatgctacaCattaagaaagctgaggtgca	15	8	11	7	0	0	3	0	2	0	1	0	4	0	4	0	2	4	4	0	2	4	2			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr1:186056762C>T	ENST00000271588.4	+	60	9577	c.9348C>T	c.(9346-9348)caC>caT	p.H3116H	HMCN1_ENST00000367492.2_Silent_p.H3116H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3116	Ig-like C2-type 29.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AAATGCTACACATTAAGAAAG	0.438													50	46					0	0	1	0	0	T	186056762	C	T	186056762	2	4	256	1	0	0	0	0	0	0	0	1	7261	477	17	2		2	HMCN1	1	186056762	Silent	SNP	C	TCGA-KK-A6E8-01A-11D-A31L-08	67577344	186056762	63193859	6	13381											
CD34	947	broad.mit.edu	37	chr1	208062820	208062820	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcaccttacctgttctgttGgccaagaccagcagtagaca	10	10	9	12	0	1	2	0	0	1	2	1	2	1	2	4	1	3	5	4	1	3	4			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr1:208062820G>A	ENST00000356522.4	-	5	1065	c.744C>T	c.(742-744)gcC>gcT	p.A248A	CD34_ENST00000367036.3_Silent_p.A90A|CD34_ENST00000537704.1_Silent_p.A113A|CD34_ENST00000310833.7_Silent_p.A248A|CD34_ENST00000485761.1_5'UTR	NM_001773.2	NP_001764.1	P28906	CD34_HUMAN	CD34 molecule	248					cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						CTGTTCTGTTGGCCAAGACCA	0.592													8	8					0	0	1	0	0	A	208062820	G	A	208062820	2	1	256	1	0	0	0	0	0	0	0	1	3028	1335	47	2		2	CD34	1	208062820	Silent	SNP	G	TCGA-KK-A6E8-01A-11D-A31L-08	22006058	208062820	41187801	7	13382											
MIA3	375056	broad.mit.edu	37	chr1	222805661	222805661	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaaatactgagaaagacctGgacccaggtaaagcctgcta	15	6	9	11	0	0	2	0	1	0	2	0	4	0	3	4	2	3	2	4	2	6	3			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr1:222805661G>C	ENST00000344922.5	+	5	3349	c.3324G>C	c.(3322-3324)ctG>ctC	p.L1108L	MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344441.6_Silent_p.L1108L|MIA3_ENST00000344507.1_Intron	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1108					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		AGAAAGACCTGGACCCAGGTA	0.458													8	75					0	0	1	0	0	C	222805661	G	C	222805661	2	2	256	1	0	0	0	0	0	0	0	1	9614	1335	47	4		4	MIA3	1	222805661	Silent	SNP	G	TCGA-KK-A6E8-01A-11D-A31L-08	14742841	222805661	26444960	8	13383											
RAD51AP2	729475	broad.mit.edu	37	chr2	17699517	17699517	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttttccgcctcagacaagcGaggcaccagaggcagtcgcc	9	7	11	14	3	1	2	1	0	0	2	3	3	2	2	4	2	1	2	4	2	1	2			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr2:17699517G>A	ENST00000399080.2	-	1	189	c.166C>T	c.(166-168)Cgc>Tgc	p.R56C		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	56										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TCAGACAAGCGAGGCACCAGA	0.552													8	102					0	0	1	0	0	A	17699517	G	A	17699517	3	1	256	1	0	0	0	0	1	0	0	0	13039	1058	37	1	3325	1	RAD51AP2	2	17699517	Missense_Mutation	SNP	G	TCGA-KK-A6E8-01A-11D-A31L-08		17699517	225499856	9	13384											
RHOB	388	broad.mit.edu	37	chr2	20647434	20647434	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggaggactacgaccgcctgCggccgctctcctacccggac	7	5	12	17	5	1	0	0	0	1	0	2	4	1	3	5	4	3	1	5	4	2	2			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr2:20647434C>T	ENST00000272233.4	+	1	600	c.208C>T	c.(208-210)Cgg>Tgg	p.R70W		NM_004040.2	NP_004031.1	P62745	RHOB_HUMAN	ras homolog family member B	70					angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis	cytosol|late endosome membrane|nucleus|plasma membrane	GTP binding|GTPase activity|protein binding			breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)		CGACCGCCTGCGGCCGCTCTC	0.647													7	80					0	0	1	0	0	T	20647434	C	T	20647434	3	4	256	1	0	0	0	0	1	0	0	0	13382	759	27	1	210	1	RHOB	2	20647434	Missense_Mutation	SNP	C	TCGA-KK-A6E8-01A-11D-A31L-08	2947917	20647434	222551939	10	13385											
RBKS	64080	broad.mit.edu	37	chr2	28070964	28070964	+	Splice_Site	DEL	C	C	-																															gccaaaagaatctttgccaaCctgtaccaaagaaataatga																										TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr2:28070964delC	ENST00000302188.3	-	3	975	c.222_splice	c.e3-1	p.V75_splice	RBKS_ENST00000444339.2_Splice_Site_p.V75_splice	NM_022128.1	NP_071411.1	Q9H477	RBSK_HUMAN	ribokinase	75					D-ribose metabolic process		ATP binding|ribokinase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(172;0.155)					TCTTTGCCAACCTGTACCAAA	0.279													2	4	---	---	---	---						-	28070964	C	-	28070964	8	5	256	1	0	1	0	1	0	0	1	0	13160	521	18	0	769	0	RBKS	2	28070964	Splice_Site	DEL	C	TCGA-KK-A6E8-01A-11D-A31L-08	7423530	28070964	215128409	11	13386											
CLEC4F	165530	broad.mit.edu	37	chr2	71046973	71046973	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaatgccggggtagcctgaaCgagcctcggtatcttggggg	8	8	16	9	3	1	1	0	1	1	0	2	2	1	1	3	5	4	2	3	5	4	3			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr2:71046973C>T	ENST00000272367.2	-	2	188	c.112G>A	c.(112-114)Gtt>Att	p.V38I	CLEC4F_ENST00000426626.1_Missense_Mutation_p.V38I	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	38					endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						GTAGCCTGAACGAGCCTCGGT	0.552													18	29					0	0	1	0	0	T	71046973	C	T	71046973	3	4	256	1	0	0	0	0	1	0	0	0	3539	536	19	1	1681	1	CLEC4F	2	71046973	Missense_Mutation	SNP	C	TCGA-KK-A6E8-01A-11D-A31L-08	42976009	71046973	172152400	12	13387											
ANKRD23	200539	broad.mit.edu	37	chr2	97505817	97505817	+	Frame_Shift_Del	DEL	G	G	-																															ggtgcgcactgccacgtgcaGgggggtgctcccgatctgag																										TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr2:97505817delG	ENST00000318357.4	-	7	681	c.640delC	c.(640-642)tgfs	p.L214fs	ANKRD23_ENST00000418232.1_Frame_Shift_Del_p.L214fs|ANKRD23_ENST00000476975.1_5'UTR|ANKRD23_ENST00000331001.2_Frame_Shift_Del_p.L172fs	NM_144994.7	NP_659431.5	Q86SG2	ANR23_HUMAN	ankyrin repeat domain 23	214						nucleus				endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)	9						GCCACGTGCAGGGGGGTGCTC	0.637													2	4	---	---	---	---						-	97505817	G	-	97505817	7	5	256	1	0	1	0	1	0	0	0	0	648	991	35	0	289	0	ANKRD23	2	97505817	Frame_Shift_Del	DEL	G	TCGA-KK-A6E8-01A-11D-A31L-08	26458844	97505817	145693556	13	13388											
CACNB4	785	broad.mit.edu	37	chr2	152698423	152698423	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaaagtgacaatacctgtaaCccagaaattgctgtgggata	16	9	9	7	0	0	2	0	1	0	1	0	3	0	3	2	1	3	2	2	1	7	4			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr2:152698423C>T	ENST00000360283.6	-	12	1454	c.1197G>A	c.(1195-1197)ggG>ggA	p.G399G	CACNB4_ENST00000201943.5_Intron|CACNB4_ENST00000427385.1_Silent_p.G414G|CACNB4_ENST00000534999.1_Silent_p.G398G|CACNB4_ENST00000539935.1_Silent_p.G432G|CACNB4_ENST00000397327.2_Silent_p.G385G			O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	432					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	p.G432G(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)	ATACCTGTAACCCAGAAATTG	0.473													39	73					0	0	1	0	0	T	152698423	C	T	152698423	2	4	256	1	0	0	0	0	0	0	0	1	2573	494	18	2		2	CACNB4	2	152698423	Silent	SNP	C	TCGA-KK-A6E8-01A-11D-A31L-08	55192606	152698423	90500950	14	13389											
ASNSD1	54529	broad.mit.edu	37	chr2	190531324	190531324	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgggcaagagtttctgcCtctcttcagttggcacccaa	8	13	9	11	0	3	1	1	0	2	1	4	1	3	1	2	2	1	4	2	2	2	4			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr2:190531324C>G	ENST00000260952.4	+	4	879	c.466C>G	c.(466-468)Ctc>Gtc	p.L156V	ASNSD1_ENST00000607062.1_Intron	NM_019048.2	NP_061921.1	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	156	Glutamine amidotransferase type-2.				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			GAGTTTCTGCCTCTCTTCAGT	0.398													51	81					0	0	1	0	0	G	190531324	C	G	190531324	3	3	256	1	0	0	0	0	1	0	0	0	1048	681	24	4	468	4	ASNSD1	2	190531324	Missense_Mutation	SNP	C	TCGA-KK-A6E8-01A-11D-A31L-08	37832901	190531324	52668049	15	13390											
DES	1674	broad.mit.edu	37	chr2	220285375	220285375	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaggagtggtacaagtcGaaggtgggtggcctcgcccg	7	7	18	9	3	0	1	0	1	0	0	2	3	0	2	2	5	1	2	2	5	3	1			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr2:220285375G>T	ENST00000373960.3	+	4	980	c.894G>T	c.(892-894)tcG>tcT	p.S298S		NM_001927.3	NP_001918.3	P17661	DESM_HUMAN	desmin	298	Coil 2B.|Rod.				cytoskeleton organization|muscle filament sliding|regulation of heart contraction	cytosol|Z disc	protein binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		GGTACAAGTCGAAGGTGGGTG	0.602													27	38					9.04072e-19	1.04054e-18	1	1	0	T	220285375	G	T	220285375	2	4	256	1	0	0	0	0	0	0	0	1	4477	1045	37	4		4	DES	2	220285375	Silent	SNP	G	TCGA-KK-A6E8-01A-11D-A31L-08	29754051	220285375	22913998	16	13391											
RELL1	768211	broad.mit.edu	37	chr4	37640115	37640115	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctaccatcgcctttaagaCatcagcattcgctaaggaat	12	11	7	11	2	1	1	1	0	0	1	3	2	1	2	2	1	3	3	2	1	4	5			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr4:37640115C>A	ENST00000454158.2	-	4	485	c.397G>T	c.(397-399)Gtc>Ttc	p.V133F	RELL1_ENST00000314117.4_Missense_Mutation_p.V133F	NM_001085400.1	NP_001078869.1	Q8IUW5	RELL1_HUMAN	RELT-like 1	133						cytoplasm|integral to membrane|microtubule cytoskeleton|plasma membrane				endometrium(1)|large_intestine(3)|lung(1)|skin(1)	6						GCCTTTAAGACATCAGCATTC	0.358													17	30					1.56452e-12	1.7352e-12	1	1	0	A	37640115	C	A	37640115	3	1	256	1	0	0	0	0	1	0	0	0	13270	478	17	4	430	4	RELL1	4	37640115	Missense_Mutation	SNP	C	TCGA-KK-A6E8-01A-11D-A31L-08		37640115	153514161	17	13392											
SRFBP1	153443	broad.mit.edu	37	chr5	121356219	121356219	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagaaggaatattttgatgaTagcacagaagaaaggtttta	17	11	11	2	0	0	5	0	2	0	3	0	7	0	6	0	2	1	2	0	2	7	6			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr5:121356219T>A	ENST00000339397.4	+	6	861	c.789T>A	c.(787-789)gaT>gaA	p.D263E		NM_152546.2	NP_689759.2	Q8NEF9	SRFB1_HUMAN	serum response factor binding protein 1	263					regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		ATTTTGATGATAGCACAGAAG	0.408													42	74					0	0	1	0	0	A	121356219	T	A	121356219	3	1	256	1	0	0	0	0	1	0	0	0	15200	1403	49	5	811	5	SRFBP1	5	121356219	Missense_Mutation	SNP	T	TCGA-KK-A6E8-01A-11D-A31L-08		121356219	59559041	18	13393											
PCDHB6	0	broad.mit.edu	37	chr5	140530499	140530499	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatggcgggtctccgcccCggtcagggacctccgagatt	5	8	15	13	4	2	1	1	0	1	1	4	4	3	3	5	5	0	0	5	5	0	1			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr5:140530499C>T	ENST00000231136.1	+	1	661	c.661C>T	c.(661-663)Cgg>Tgg	p.R221W	PCDHB6_ENST00000543635.1_Missense_Mutation_p.R85W	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		221	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTCTCCGCCCCGGTCAGGGAC	0.582													4	48					0	0	1	0	0	T	140530499	C	T	140530499	3	4	256	1	0	0	0	0	1	0	0	0	11593	643	23	1	663	1	PCDHB6	5	140530499	Missense_Mutation	SNP	C	TCGA-KK-A6E8-01A-11D-A31L-08	19174280	140530499	40384761	19	13394											
NDST1	3340	broad.mit.edu	37	chr5	149922490	149922490	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctgagacctttgaggagAtccagttttttaatggccac	9	13	10	9	0	1	3	0	2	1	2	2	5	2	3	3	2	0	2	3	2	1	4			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr5:149922490A>G	ENST00000261797.6	+	10	2429	c.1927A>G	c.(1927-1929)Atc>Gtc	p.I643V	NDST1_ENST00000523767.1_Missense_Mutation_p.I643V	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	643	Heparan sulfate N-sulfotransferase 1.				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTTGAGGAGATCCAGTTTTT	0.577													5	239					0	0	1	0	0	G	149922490	A	G	149922490	3	3	256	1	0	0	0	0	1	0	0	0	10302	333	12	3	1961	3	NDST1	5	149922490	Missense_Mutation	SNP	A	TCGA-KK-A6E8-01A-11D-A31L-08	9391991	149922490	30992770	20	13395											
GLRA1	2741	broad.mit.edu	37	chr5	151208547	151208547	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgccgagacacaaagttaaCggcagcatattctaataggg	14	9	10	8	2	1	1	0	0	1	1	1	2	1	1	1	2	3	3	1	2	5	6			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr5:151208547C>G	ENST00000274576.4	-	8	1286	c.994G>C	c.(994-996)Gtt>Ctt	p.V332L	GLRA1_ENST00000455880.2_Missense_Mutation_p.V332L|GLRA1_ENST00000545569.1_Missense_Mutation_p.V249L	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	glycine receptor, alpha 1	332					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ACAAAGTTAACGGCAGCATAT	0.512													52	84					0	0	1	0	0	G	151208547	C	G	151208547	3	3	256	1	0	0	0	0	1	0	0	0	6496	536	19	4	387	4	GLRA1	5	151208547	Missense_Mutation	SNP	C	TCGA-KK-A6E8-01A-11D-A31L-08	1286057	151208547	29706713	21	13396											
CAP2	10486	broad.mit.edu	37	chr6	17507505	17507505	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttaatcatctttcggccGtcagcgaaagcatccctgcc	8	12	8	13	3	3	0	2	0	1	0	5	1	4	0	3	1	3	2	3	1	2	3			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr6:17507505G>A	ENST00000229922.2	+	5	938	c.406G>A	c.(406-408)Gtc>Atc	p.V136I	CAP2_ENST00000493172.1_Intron|CAP2_ENST00000465994.1_Missense_Mutation_p.V136I|CAP2_ENST00000378990.2_Missense_Mutation_p.V110I|CAP2_ENST00000489374.1_Intron	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	136					activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding	p.V136I(3)		breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			TCTTTCGGCCGTCAGCGAAAG	0.483													4	58					0	0	1	0	0	A	17507505	G	A	17507505	3	1	256	1	0	0	0	0	1	0	0	0	2638	1145	40	1	420	1	CAP2	6	17507505	Missense_Mutation	SNP	G	TCGA-KK-A6E8-01A-11D-A31L-08		17507505	153607562	22	13397											
BACH2	60468	broad.mit.edu	37	chr6	90660518	90660518	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcacttggtcacaagcgCtggaggagaagatcacgctc	10	8	12	11	2	3	2	3	0	0	2	4	4	3	3	0	3	2	3	0	3	2	1			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr6:90660518C>A	ENST00000257749.4	-	7	2014	c.1307G>T	c.(1306-1308)aGc>aTc	p.S436I	RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000343122.3_Missense_Mutation_p.S436I|BACH2_ENST00000537989.1_Missense_Mutation_p.S436I|RP3-512E2.2_ENST00000445838.1_RNA	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	436						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		GTCACAAGCGCTGGAGGAGAA	0.592													3	41					0.115264	0.117185	1	1	0	A	90660518	C	A	90660518	3	1	256	1	0	0	0	0	1	0	0	0	1282	797	28	4	1230	4	BACH2	6	90660518	Missense_Mutation	SNP	C	TCGA-KK-A6E8-01A-11D-A31L-08	73153013	90660518	80454549	23	13398											
LAMA2	3908	broad.mit.edu	37	chr6	129637064	129637064	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgctcctctgattggccAattgacaaggcatgaaattg	10	11	11	9	0	1	3	0	3	1	0	2	3	2	3	2	3	1	3	2	3	3	3			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr6:129637064A>G	ENST00000421865.2	+	26	3942	c.3893A>G	c.(3892-3894)cAa>cGa	p.Q1298R		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1298	Laminin IV type A 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CTGATTGGCCAATTGACAAGG	0.398													44	65					0	0	1	0	0	G	129637064	A	G	129637064	3	3	256	1	0	0	0	0	1	0	0	0	8645	130	5	3	3995	3	LAMA2	6	129637064	Missense_Mutation	SNP	A	TCGA-KK-A6E8-01A-11D-A31L-08	38976546	129637064	41478003	24	13399											
MUC17	140453	broad.mit.edu	37	chr7	100675730	100675730	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtacgcctgccagcaccatgCcggttgccacttctgaaatg	8	9	10	14	2	1	1	0	1	1	0	1	1	1	1	5	1	5	3	5	1	2	3			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr7:100675730C>T	ENST00000306151.4	+	3	1097	c.1033C>T	c.(1033-1035)Ccg>Tcg	p.P345S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	345	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGCACCATGCCGGTTGCCAC	0.488													5	326					0	0	1	0	0	T	100675730	C	T	100675730	3	4	256	1	0	0	0	0	1	0	0	0	10022	739	26	2	1043	2	MUC17	7	100675730	Missense_Mutation	SNP	C	TCGA-KK-A6E8-01A-11D-A31L-08		100675730	58462933	25	13400											
THAP1	55145	broad.mit.edu	37	chr8	42693430	42693430	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caacctgggaaacaggaggcGgtaaaggaggtgggggaagc	13	3	19	6	1	0	0	0	0	0	0	0	4	0	4	1	8	3	1	1	8	5	1			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr8:42693430G>A	ENST00000254250.3	-	3	547	c.317C>T	c.(316-318)cCg>cTg	p.P106L	THAP1_ENST00000345117.2_Missense_Mutation_p.R41C	NM_018105.2	NP_060575.1	Q9NVV9	THAP1_HUMAN	THAP domain containing, apoptosis associated protein 1	106	Pro-rich.				cell cycle|endothelial cell proliferation|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	sequence-specific DNA binding|zinc ion binding			NS(1)|lung(4)|prostate(1)|skin(1)	7	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Acute lymphoblastic leukemia(644;0.000299)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0377)|LUSC - Lung squamous cell carcinoma(45;0.0869)			AACAGGAGGCGGTAAAGGAGG	0.413													7	113					0	0	1	0	0	A	42693430	G	A	42693430	3	1	256	1	0	0	0	0	1	0	0	0	15901	1116	39	1	328	1	THAP1	8	42693430	Missense_Mutation	SNP	G	TCGA-KK-A6E8-01A-11D-A31L-08		42693430	103670592	26	13401											
CA1	759	broad.mit.edu	37	chr8	86250622	86250622	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcactggttttaatatcaaCaggggactggttatttccat	10	16	8	7	0	2	0	2	0	0	0	3	1	3	1	1	4	1	2	1	4	4	6			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr8:86250622C>T	ENST00000523953.1	-	4	1140	c.94G>A	c.(94-96)Gtt>Att	p.V32I	CA1_ENST00000432364.2_Missense_Mutation_p.V32I|CA1_ENST00000518341.1_5'UTR|CA1_ENST00000431316.1_Missense_Mutation_p.V32I|CA1_ENST00000256119.5_Missense_Mutation_p.V32I|CA1_ENST00000542576.1_Missense_Mutation_p.V32I|CA1_ENST00000523022.1_Missense_Mutation_p.V32I|CA1_ENST00000522389.1_Intron			P00915	CAH1_HUMAN	carbonic anhydrase I	32					one-carbon metabolic process	Golgi apparatus	carbonate dehydratase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13		all_lung(136;4.89e-06)			Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909)	TTAATATCAACAGGGGACTGG	0.423													10	394					0	0	1	0	0	T	86250622	C	T	86250622	3	4	256	1	0	0	0	0	1	0	0	0	2528	478	17	2	715	2	CA1	8	86250622	Missense_Mutation	SNP	C	TCGA-KK-A6E8-01A-11D-A31L-08	43557192	86250622	60113400	27	13402											
PKHD1L1	93035	broad.mit.edu	37	chr8	110396299	110396299	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgacattattctttttacagGcaaaaagttttagaacccca	14	14	5	8	0	1	2	0	1	1	1	1	2	1	2	2	1	2	2	2	1	6	7			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr8:110396299G>A	ENST00000378402.5	+	5	522	c.417_splice	c.e5-1	p.A140_splice		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	140					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTTTTTACAGGCAAAAAGTTT	0.289										HNSCC(38;0.096)			4	171					0	0	1	0	0	A	110396299	G	A	110396299	5	1	256	1	0	0	0	0	0	0	1	0	12020	1217	42	2	436	2	PKHD1L1	8	110396299	Splice_Site	SNP	G	TCGA-KK-A6E8-01A-11D-A31L-08	24145677	110396299	35967723	28	13403											
ST3GAL1	6482	broad.mit.edu	37	chr8	134472099	134472099	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcgtgcacccccgtcttgcGaaaagcccccgcggatgggt	7	7	12	15	5	1	0	0	0	1	0	2	2	1	1	4	2	3	1	4	2	2	1			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr8:134472099G>A	ENST00000319914.5	-	9	1958	c.931C>T	c.(931-933)Cgc>Tgc	p.R311C	ST3GAL1_ENST00000399640.2_Missense_Mutation_p.R311C|ST3GAL1_ENST00000522652.1_Missense_Mutation_p.R311C|ST3GAL1_ENST00000521180.1_Missense_Mutation_p.R311C			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	311					protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			CCCGTCTTGCGAAAAGCCCCC	0.562													13	386					0	0	1	0	0	A	134472099	G	A	134472099	3	1	256	1	0	0	0	0	1	0	0	0	15270	1058	37	1	95	1	ST3GAL1	8	134472099	Missense_Mutation	SNP	G	TCGA-KK-A6E8-01A-11D-A31L-08	24075800	134472099	11891923	29	13404											
LY6K	54742	broad.mit.edu	37	chr8	143784549	143784549	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggttgcgaagcagtgctcCgctggttgtgcagcgatgga	7	10	16	8	3	0	0	0	0	0	0	1	3	1	1	1	3	5	6	1	3	1	2			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr8:143784549C>T	ENST00000519387.1	+	3	640	c.226C>T	c.(226-228)Cgc>Tgc	p.R76C	LY6K_ENST00000292430.6_Silent_p.S86S|LY6K_ENST00000561179.1_Silent_p.S144S|LY6K_ENST00000522591.1_3'UTR|CTD-2292P10.4_ENST00000520572.1_RNA|LY6K_ENST00000519390.1_3'UTR			Q17RY6	LY6K_HUMAN	lymphocyte antigen 6 complex, locus K	0	UPAR/Ly6.					anchored to membrane|cytoplasm|extracellular region|nucleolus|plasma membrane				NS(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)	10	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					AGCAGTGCTCCGCTGGTTGTG	0.483													4	121					0	0	1	0	0	T	143784549	C	T	143784549	3	4	256	1	0	0	0	0	1	0	0	0	9144	652	23	1	418	1	LY6K	8	143784549	Missense_Mutation	SNP	C	TCGA-KK-A6E8-01A-11D-A31L-08	9312450	143784549	2579473	30	13405											
C9orf3	84909	broad.mit.edu	37	chr9	97522701	97522701	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacgctcgctgcagccaggcTcctggctgtggggaactcct	5	9	13	14	2	0	0	0	0	0	0	3	1	2	1	3	4	4	5	3	4	2	1			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr9:97522701T>A	ENST00000375315.2	+	1	636	c.636T>A	c.(634-636)gcT>gcA	p.A212A	C9orf3_ENST00000297979.5_Silent_p.A212A|C9orf3_ENST00000277198.2_Silent_p.A212A	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	212					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		GCAGCCAGGCTCCTGGCTGTG	0.502													20	21					0	0	1	0	0	A	97522701	T	A	97522701	2	1	256	1	0	0	0	0	0	0	0	1	2495	1538	54	5		5	C9orf3	9	97522701	Silent	SNP	T	TCGA-KK-A6E8-01A-11D-A31L-08		97522701	43690730	31	13406											
LRRC4C	57689	broad.mit.edu	37	chr11	40137425	40137425	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtatacaaaagctccattcgGgatggtagtaagacgattgt	13	11	11	6	2	0	1	0	0	0	1	2	3	1	2	1	2	2	4	1	2	6	6			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr11:40137425G>A	ENST00000278198.2	-	2	2381	c.418C>T	c.(418-420)Ccg>Tcg	p.P140S	LRRC4C_ENST00000528697.1_Missense_Mutation_p.P140S|LRRC4C_ENST00000527150.1_Missense_Mutation_p.P140S|LRRC4C_ENST00000530763.1_Missense_Mutation_p.P140S			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	140					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GCTCCATTCGGGATGGTAGTA	0.428													12	39					0	0	1	0	0	A	40137425	G	A	40137425	3	1	256	1	0	0	0	0	1	0	0	0	9053	1232	43	2	1508	2	LRRC4C	11	40137425	Missense_Mutation	SNP	G	TCGA-KK-A6E8-01A-11D-A31L-08		40137425	94869091	32	13407			1	32		2	2	44	G		7.917185e-05
LRRC4C	57689	broad.mit.edu	37	chr11	40137468	40137468	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aagagttccagagtgttgagGttcgccagaccattgaaagc	12	9	12	8	1	0	5	0	2	0	3	2	5	1	5	3	1	1	3	3	1	2	4			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr11:40137468G>A	ENST00000278198.2	-	2	2338	c.375C>T	c.(373-375)aaC>aaT	p.N125N	LRRC4C_ENST00000528697.1_Silent_p.N125N|LRRC4C_ENST00000527150.1_Silent_p.N125N|LRRC4C_ENST00000530763.1_Silent_p.N125N			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	125					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GAGTGTTGAGGTTCGCCAGAC	0.438													9	43					0	0	1	0	0	A	40137468	G	A	40137468	2	1	256	1	0	0	0	0	0	0	0	1	9053	1252	44	2		2	LRRC4C	11	40137468	Silent	SNP	G	TCGA-KK-A6E8-01A-11D-A31L-08	43	40137468	94869048	33	13408			1	32		2	2	44	G		7.917185e-05
OR5B3	441608	broad.mit.edu	37	chr11	58170679	58170679	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagctgaagagtagcaaaaGtccactagagacaagttact	17	7	9	8	0	0	3	0	1	0	2	1	4	1	3	1	0	3	4	1	0	7	3			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr11:58170679G>T	ENST00000309403.2	-	1	203	c.204C>A	c.(202-204)gaC>gaA	p.D68E		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AGTAGCAAAAGTCCACTAGAG	0.413													44	74					4.01765e-15	4.53846e-15	1	1	0	T	58170679	G	T	58170679	3	4	256	1	0	0	0	0	1	0	0	0	11199	1020	36	4	742	4	OR5B3	11	58170679	Missense_Mutation	SNP	G	TCGA-KK-A6E8-01A-11D-A31L-08	18033211	58170679	76835837	34	13409											
TRPC6	7225	broad.mit.edu	37	chr11	101347235	101347235	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attccttggggccctgagtcCagatttctttacattcagcc	7	14	8	12	0	2	2	1	1	1	1	4	2	4	2	4	2	2	0	4	2	1	6			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr11:101347235C>A	ENST00000344327.3	-	6	1965	c.1541G>T	c.(1540-1542)tGg>tTg	p.W514L	TRPC6_ENST00000532133.1_Intron|TRPC6_ENST00000348423.4_Missense_Mutation_p.W398L|TRPC6_ENST00000360497.4_Missense_Mutation_p.W459L	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	514					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		GCCCTGAGTCCAGATTTCTTT	0.383													5	73					0.00116845	0.00120805	1	1	0	A	101347235	C	A	101347235	3	1	256	1	0	0	0	0	1	0	0	0	16644	595	21	4	1286	4	TRPC6	11	101347235	Missense_Mutation	SNP	C	TCGA-KK-A6E8-01A-11D-A31L-08	43176556	101347235	33659281	35	13410											
ALKBH2	121642	broad.mit.edu	37	chr12	109526259	109526259	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agaggcaatggggctcccagGggccagttctctttcatcat	8	10	12	11	0	3	1	2	0	1	1	5	1	4	1	2	5	0	3	2	5	1	2	rs140769082		TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr12:109526259G>A	ENST00000429722.2	-	4	901	c.538C>T	c.(538-540)Cct>Tct	p.P180S	ALKBH2_ENST00000343075.3_Missense_Mutation_p.P180S|ALKBH2_ENST00000440112.2_Silent_p.P113P	NM_001145374.1	NP_001138846.1	Q6NS38	ALKB2_HUMAN	alkB, alkylation repair homolog 2 (E. coli)	180	Fe2OG dioxygenase.				DNA dealkylation involved in DNA repair|oxidative DNA demethylation	nucleoplasm	cytosine C-5 DNA demethylase activity|damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(3)|large_intestine(1)|lung(3)	8					Vitamin C(DB00126)	GGGCTCCCAGGGGCCAGTTCT	0.537								Direct reversal of damage					44	70					0	0	1	0	0	A	109526259	G	A	109526259	3	1	256	1	0	0	0	0	1	0	0	0	523	1232	43	2	251	2	ALKBH2	12	109526259	Missense_Mutation	SNP	G	TCGA-KK-A6E8-01A-11D-A31L-08		109526259	24325636	36	13411											
COL4A1	1282	broad.mit.edu	37	chr13	110833688	110833688	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaagccattaaatcccgggCgacctggagtccccggtggc	8	7	13	13	3	0	0	0	0	0	0	2	2	2	1	5	4	1	1	5	4	3	2			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr13:110833688C>T	ENST00000375820.4	-	29	2265	c.2144G>A	c.(2143-2145)cGc>cAc	p.R715H		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	715	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			AAATCCCGGGCGACCTGGAGT	0.498													18	15					0	0	1	0	0	T	110833688	C	T	110833688	3	4	256	1	0	0	0	0	1	0	0	0	3712	768	27	1	2961	1	COL4A1	13	110833688	Missense_Mutation	SNP	C	TCGA-KK-A6E8-01A-11D-A31L-08		110833688	4336190	37	13412											
DHRS4	10901	broad.mit.edu	37	chr14	24424420	24424420	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggagcggctggtggccaCggtgagctgcagggaaatgg	7	5	20	9	3	0	1	0	1	0	0	0	3	0	3	2	7	3	3	2	7	1	0			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr14:24424420C>T	ENST00000313250.5	+	2	508	c.306_splice	c.e2+1	p.T102_splice	DHRS4_ENST00000397075.3_Splice_Site_p.T102_splice|DHRS4_ENST00000559632.1_Splice_Site_p.T102_splice|DHRS4_ENST00000558581.1_Splice_Site_p.T102_splice|DHRS4_ENST00000558263.1_Splice_Site_p.T102_splice|DHRS4_ENST00000382761.3_Splice_Site_p.T84_splice|DHRS4_ENST00000543741.2_Splice_Site_p.T102_splice|DHRS4_ENST00000421831.1_Splice_Site_p.T84_splice|DHRS4_ENST00000308178.8_Splice_Site_p.T84_splice|DHRS4_ENST00000397073.2_Splice_Site_p.T84_splice|DHRS4_ENST00000397074.3_Splice_Site_p.T102_splice	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN	dehydrogenase/reductase (SDR family) member 4	102				T -> M (in Ref. 1; AAD02292).		mitochondrion|nuclear membrane|peroxisome	binding|carbonyl reductase (NADPH) activity	p.T102M(4)		central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	CTGGTGGCCACGGTGAGCTGC	0.652													4	27					0	0	1	0	0	T	24424420	C	T	24424420	5	4	256	1	0	0	0	0	0	0	1	0	4520	550	19	1	311	1	DHRS4	14	24424420	Splice_Site	SNP	C	TCGA-KK-A6E8-01A-11D-A31L-08		24424420	82925120	38	13413											
UNC13C	440279	broad.mit.edu	37	chr15	54860001	54860001	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttttttttctttgtagcaaTactttcatgcaggaggaaat	10	19	7	5	0	2	0	1	0	1	0	2	2	2	2	0	2	3	3	0	2	4	8			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr15:54860001T>C	ENST00000545554.1	+	29	5962	c.5962T>C	c.(5962-5964)Tac>Cac	p.Y1988H	UNC13C_ENST00000537900.1_Missense_Mutation_p.Y1986H|UNC13C_ENST00000260323.11_Missense_Mutation_p.Y1988H			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1988	MHD2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TTTGTAGCAATACTTTCATGC	0.353													5	9					0	0	1	0	0	C	54860001	T	C	54860001	3	2	256	1	0	0	0	0	1	0	0	0	17046	1406	49	3	6072	3	UNC13C	15	54860001	Missense_Mutation	SNP	T	TCGA-KK-A6E8-01A-11D-A31L-08		54860001	47671391	39	13414											
HMOX2	3163	broad.mit.edu	37	chr16	4559437	4559437	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaatgaactggaccaggccGgctccacactggccagagag	11	5	12	13	1	1	2	1	1	0	1	2	4	2	3	4	4	1	1	4	4	2	0			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr16:4559437G>A	ENST00000570646.1	+	5	1326	c.721G>A	c.(721-723)Ggc>Agc	p.G241S	HMOX2_ENST00000398595.3_Missense_Mutation_p.G241S|HMOX2_ENST00000219700.6_Missense_Mutation_p.G241S|HMOX2_ENST00000414777.1_Missense_Mutation_p.G241S|HMOX2_ENST00000458134.3_Missense_Mutation_p.G241S|HMOX2_ENST00000575120.1_Missense_Mutation_p.G212S|HMOX2_ENST00000406590.2_Missense_Mutation_p.G241S	NM_002134.3	NP_002125.3	P30519	HMOX2_HUMAN	heme oxygenase (decycling) 2	241					cellular iron ion homeostasis|heme catabolic process|heme oxidation|response to hypoxia|transmembrane transport	endoplasmic reticulum membrane|microsome|plasma membrane	electron carrier activity|heme oxygenase (decyclizing) activity|metal ion binding|protein binding			endometrium(1)|large_intestine(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8					NADH(DB00157)	GGACCAGGCCGGCTCCACACT	0.478													15	233					0	0	1	0	0	A	4559437	G	A	4559437	3	1	256	1	0	0	0	0	1	0	0	0	7285	1116	39	1	735	1	HMOX2	16	4559437	Missense_Mutation	SNP	G	TCGA-KK-A6E8-01A-11D-A31L-08		4559437	85795316	40	13415											
CDH1	999	broad.mit.edu	37	chr16	68855984	68855984	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	acgcccccataccagaacctCgaactatattcttctgtgag	11	10	6	14	2	2	2	0	1	2	1	3	3	2	2	4	0	3	0	4	0	5	5	rs121964877		TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr16:68855984C>G	ENST00000261769.5	+	12	1983	c.1792C>G	c.(1792-1794)Cga>Gga	p.R598G	RP11-354M1.2_ENST00000563916.1_RNA|CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Missense_Mutation_p.R537G	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	598	Cadherin 5.		R -> Q (in a gastric cancer sample).		adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding			NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		ACCAGAACCTCGAACTATATT	0.453			"Mis, N, F, S"		"lobular breast, gastric"	gastric			Hereditary Diffuse Gastric Cancer				4	83					0	0	1	0	0	G	68855984	C	G	68855984	3	3	256	1	0	0	0	0	1	0	0	0	3117	876	31	4	1838	4	CDH1	16	68855984	Missense_Mutation	SNP	C	TCGA-KK-A6E8-01A-11D-A31L-08	64296547	68855984	21498769	41	13416											
LSMD1	84316	broad.mit.edu	37	chr17	7760438	7760438	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccatctgtcatgcgaatgcGcatagtcttgttgagcagcg	8	12	11	10	3	3	1	1	1	2	0	4	2	4	1	1	0	4	3	1	0	2	3			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr17:7760438G>A	ENST00000333775.5	-	1	734	c.304C>T	c.(304-306)Cgc>Tgc	p.R102C	LSMD1_ENST00000576861.1_Missense_Mutation_p.R28C|LSMD1_ENST00000576384.1_Missense_Mutation_p.R2C|LSMD1_ENST00000335155.5_Missense_Mutation_p.R54C|LSMD1_ENST00000575771.1_Missense_Mutation_p.R2C|LSMD1_ENST00000575208.1_Missense_Mutation_p.R2C|LSMD1_ENST00000575071.1_Missense_Mutation_p.R2C	NM_032356.3	NP_115732.2	Q9BRA0	LSMD1_HUMAN	LSM domain containing 1	54						cytoplasm|nucleus				endometrium(1)|lung(2)|ovary(1)	4		all_cancers(10;0.11)|Prostate(122;0.219)				ATGCGAATGCGCATAGTCTTG	0.632											OREG0024146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	204					0	0	1	0	0	A	7760438	G	A	7760438	3	1	256	1	0	0	0	0	1	0	0	0	9107	1087	38	1	225	1	LSMD1	17	7760438	Missense_Mutation	SNP	G	TCGA-KK-A6E8-01A-11D-A31L-08		7760438	73434772	42	13417											
ACACA	31	broad.mit.edu	37	chr17	35627723	35627723	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccctctgaggccttgatCattactggatatccaacttc	8	13	6	14	0	2	2	1	2	1	0	5	3	4	3	4	2	2	0	4	2	3	4			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr17:35627723C>A	ENST00000353139.5	-	10	1519	c.1038G>T	c.(1036-1038)atG>atT	p.M346I	ACACA_ENST00000394406.2_Missense_Mutation_p.M309I|ACACA_ENST00000360679.3_Missense_Mutation_p.M251I|ACACA_ENST00000335166.5_Missense_Mutation_p.M231I	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	309	ATP-grasp.|Biotin carboxylation.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	AGGCCTTGATCATTACTGGAT	0.393													4	150					1	1	1	1	0	A	35627723	C	A	35627723	3	1	256	1	0	0	0	0	1	0	0	0	106	826	29	4	6301	4	ACACA	17	35627723	Missense_Mutation	SNP	C	TCGA-KK-A6E8-01A-11D-A31L-08	27867285	35627723	45567487	43	13418											
ARHGDIA	396	broad.mit.edu	37	chr17	79826902	79826904	+	In_Frame_Del	DEL	CTC	CTC	-																															acgggggtcaggaactcgtaCtcctcggcccggggcccata																								rs150457411		TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr17:79826902_79826904delCTC	ENST00000269321.7	-	6	598_600	c.463_465delGAG	c.(463-465)del	p.E155del	ARHGDIA_ENST00000400721.4_Intron|ARHGDIA_ENST00000584461.1_In_Frame_Del_p.E155del|ARHGDIA_ENST00000541078.2_In_Frame_Del_p.E155del|ARHGDIA_ENST00000581876.1_In_Frame_Del_p.E80del|ARHGDIA_ENST00000580685.1_In_Frame_Del_p.E155del	NM_001185078.1|NM_004309.4	NP_001172007.1|NP_004300.1	P52565	GDIR1_HUMAN	Rho GDP dissociation inhibitor (GDI) alpha	155					anti-apoptosis|cellular component movement|negative regulation of axonogenesis|negative regulation of cell adhesion|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoskeleton|cytosol	GTPase activator activity|identical protein binding|Rho GDP-dissociation inhibitor activity			endometrium(1)|lung(1)|prostate(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			GGAACTCGTACTCCTCGGCCCGG	0.65													9	49	---	---	---	---						-	79826904	CTC	-	79826902	7	5	256	1	0	1	0	1	0	0	0	0	887	564	20	0	153	0	ARHGDIA	17	79826902	In_Frame_Del	DEL	CTC	TCGA-KK-A6E8-01A-11D-A31L-08	44199179	79826902	1368308	44	13419											
LAMA3	3909	broad.mit.edu	37	chr18	21364040	21364040	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatatgtgatgcccacggaCggtgcctgtgccgccctggg	7	8	14	12	3	0	1	0	1	0	0	0	2	0	2	4	3	3	0	4	3	2	1			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr18:21364040C>T	ENST00000313654.9	+	12	1763	c.1522C>T	c.(1522-1524)Cgg>Tgg	p.R508W	LAMA3_ENST00000399516.3_Missense_Mutation_p.R508W	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	508	Domain V.|Laminin EGF-like 4.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGCCCACGGACGGTGCCTGTG	0.532													22	182					0	0	1	0	0	T	21364040	C	T	21364040	3	4	256	1	0	0	0	0	1	0	0	0	8646	527	19	1	1568	1	LAMA3	18	21364040	Missense_Mutation	SNP	C	TCGA-KK-A6E8-01A-11D-A31L-08		21364040	56713208	45	13420											
SGTA	6449	broad.mit.edu	37	chr19	2769012	2769012	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgagaggcccccgtgccggaGctggtcatgcaggaactgga	8	5	16	12	3	1	1	1	0	0	1	1	5	1	4	3	5	4	2	3	5	1	0			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr19:2769012G>A	ENST00000221566.2	-	2	216	c.55C>T	c.(55-57)Ctc>Ttc	p.L19F		NM_003021.3	NP_003012.1	O43765	SGTA_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha	19					interspecies interaction between organisms	cytoplasm	protein binding			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGTGCCGGAGCTGGTCATGC	0.637													42	56					0	0	1	0	0	A	2769012	G	A	2769012	3	1	256	1	0	0	0	0	1	0	0	0	14279	971	34	2	926	2	SGTA	19	2769012	Missense_Mutation	SNP	G	TCGA-KK-A6E8-01A-11D-A31L-08		2769012	56359971	46	13421											
MUC16	94025	broad.mit.edu	37	chr19	9058771	9058771	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcattgttgtggaaaccaTgttgtctcttatagaggaag	11	13	12	5	0	1	1	0	0	1	1	2	3	1	3	1	3	1	3	1	3	4	5			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr19:9058771T>C	ENST00000397910.4	-	3	28878	c.28675A>G	c.(28675-28677)Atg>Gtg	p.M9559V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9561	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGGAAACCATGTTGTCTCTT	0.493													11	16					0	0	1	0	0	C	9058771	T	C	9058771	3	2	256	1	0	0	0	0	1	0	0	0	10021	1464	51	3	15176	3	MUC16	19	9058771	Missense_Mutation	SNP	T	TCGA-KK-A6E8-01A-11D-A31L-08	6289759	9058771	50070212	47	13422											
PSG4	5672	broad.mit.edu	37	chr19	43702387	43702387	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctccatggcctccctgggAtttaagttgctgctggagat	6	12	12	11	0	0	1	0	0	0	1	2	3	2	2	4	3	2	3	4	3	1	3	rs137963702	byFrequency	TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr19:43702387A>G	ENST00000405312.3	-	3	708	c.471T>C	c.(469-471)aaT>aaC	p.N157N	PSG4_ENST00000244295.9_Silent_p.N157N|PSG4_ENST00000433626.2_Intron	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	157	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				CCTCCCTGGGATTTAAGTTGC	0.532													4	213					0	0	1	0	0	G	43702387	A	G	43702387	2	3	256	1	0	0	0	0	0	0	0	1	12706	330	12	3		3	PSG4	19	43702387	Silent	SNP	A	TCGA-KK-A6E8-01A-11D-A31L-08	34643616	43702387	15426596	48	13423											
IRGQ	126298	broad.mit.edu	37	chr19	44097045	44097045	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagacactccggatcctcGccctcgccgtctgtgcgcac	5	7	9	20	5	1	1	0	0	1	1	5	2	3	2	5	1	1	1	5	1	0	0			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr19:44097045G>A	ENST00000422989.1	-	3	1160	c.1005C>T	c.(1003-1005)ggC>ggT	p.G335G	L34079.2_ENST00000594374.1_Silent_p.G48G|IRGQ_ENST00000602269.1_Silent_p.G335G|IRGQ_ENST00000601520.1_5'UTR	NM_001007561.2	NP_001007562.1	Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	335							protein binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				CCGGATCCTCGCCCTCGCCGT	0.617													12	153					0	0	1	0	0	A	44097045	G	A	44097045	2	1	256	1	0	0	0	0	0	0	0	1	7883	1074	38	1		1	IRGQ	19	44097045	Silent	SNP	G	TCGA-KK-A6E8-01A-11D-A31L-08	394658	44097045	15031938	49	13424											
SNRPD2	6633	broad.mit.edu	37	chr19	46191769	46191769	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtgttaaattcctcctcctCtcgcttctgcagctcctctg	4	15	7	15	1	3	0	0	0	3	0	8	0	7	0	4	1	2	4	4	1	2	3			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr19:46191769C>G	ENST00000342669.3	-	2	502	c.58G>C	c.(58-60)Gag>Cag	p.E20Q	SNRPD2_ENST00000587367.1_Missense_Mutation_p.E10Q|SNRPD2_ENST00000588301.1_Missense_Mutation_p.E20Q|SNRPD2_ENST00000588599.1_Missense_Mutation_p.E10Q|SNRPD2_ENST00000585392.1_Intron|SNRPD2_ENST00000391932.3_Missense_Mutation_p.E10Q|SNRPD2_ENST00000590212.1_Missense_Mutation_p.E20Q	NM_004597.5	NP_004588.1	P62316	SMD2_HUMAN	small nuclear ribonucleoprotein D2 polypeptide 16.5kDa	20					ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	catalytic step 2 spliceosome|cytosol|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	protein binding			breast(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00546)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.194)		TCCTCCTCCTCTCGCTTCTGC	0.502													45	73					0	0	1	0	0	G	46191769	C	G	46191769	3	3	256	1	0	0	0	0	1	0	0	0	14919	922	32	4	306	4	SNRPD2	19	46191769	Missense_Mutation	SNP	C	TCGA-KK-A6E8-01A-11D-A31L-08	2094724	46191769	12937214	50	13425											
MAMSTR	284358	broad.mit.edu	37	chr19	49217169	49217169	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctccagagtcagagccgctGagcccggccctgaggaaggg	8	4	15	14	2	1	4	1	2	0	2	2	5	2	5	5	3	2	1	5	3	1	0			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr19:49217169G>A	ENST00000318083.6	-	8	920	c.857C>T	c.(856-858)tCa>tTa	p.S286L	MAMSTR_ENST00000377367.3_Missense_Mutation_p.S118L|MAMSTR_ENST00000419611.1_Missense_Mutation_p.S183L|MAMSTR_ENST00000356751.4_Missense_Mutation_p.S183L|MAMSTR_ENST00000594582.1_Missense_Mutation_p.S118L			Q6ZN01	MASTR_HUMAN	MEF2 activating motif and SAP domain containing transcriptional regulator	286	Pro-rich.|Transcription activation (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(1)|ovary(1)	2						CAGAGCCgctgagcccggccc	0.672													12	81					0	0	1	0	0	A	49217169	G	A	49217169	3	1	256	1	0	0	0	0	1	0	0	0	9259	1294	45	2	402	2	MAMSTR	19	49217169	Missense_Mutation	SNP	G	TCGA-KK-A6E8-01A-11D-A31L-08	3025400	49217169	9911814	51	13426											
SHANK1	50944	broad.mit.edu	37	chr19	51172430	51172430	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtgctgtagggaggctcCggtggggacgtggtgggtgg	3	9	24	5	2	0	0	0	0	0	0	1	2	1	2	1	9	1	3	1	9	1	1			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr19:51172430C>A	ENST00000293441.1	-	22	2805	c.2787G>T	c.(2785-2787)ccG>ccT	p.P929P	SHANK1_ENST00000391814.1_Silent_p.P937P|SHANK1_ENST00000391813.1_Silent_p.P316P|SHANK1_ENST00000359082.3_Silent_p.P920P	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	929					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		AGGGAGGCTCCGGTGGGGACG	0.672											OREG0025642	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	11					0.000157383	0.000168428	1	1	0	A	51172430	C	A	51172430	2	1	256	1	0	0	0	0	0	0	0	1	14319	639	23	4		4	SHANK1	19	51172430	Silent	SNP	C	TCGA-KK-A6E8-01A-11D-A31L-08	1955261	51172430	7956553	52	13427											
SYCP2	10388	broad.mit.edu	37	chr20	58467116	58467116	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctgcttttctatgactttGcacatttttgctagcagatg	7	18	7	9	0	2	2	0	1	2	1	2	2	2	2	0	0	4	4	0	0	2	7			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr20:58467116G>A	ENST00000357552.3	-	24	2518	c.2293C>T	c.(2293-2295)Caa>Taa	p.Q765*	SYCP2_ENST00000371001.2_Nonsense_Mutation_p.Q765*			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	765					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			CTATGACTTTGCACATTTTTG	0.338													17	21					0	0	1	0	0	A	58467116	G	A	58467116	4	1	256	1	0	0	0	0	0	1	0	0	15489	1328	46	2	2387	2	SYCP2	20	58467116	Nonsense_Mutation	SNP	G	TCGA-KK-A6E8-01A-11D-A31L-08		58467116	4558404	53	13428											
ARFGAP3	26286	broad.mit.edu	37	chr22	43203169	43203169	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taggcgggccctggtctcatActagagaagacaaggaaaag	14	6	13	8	1	1	2	1	0	1	2	2	4	1	3	1	4	1	0	1	4	7	3			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr22:43203169A>G	ENST00000263245.5	-	14	1540	c.1320_splice	c.e14-1	p.Y441_splice	ARFGAP3_ENST00000429508.2_Splice_Site_p.Y369_splice|ARFGAP3_ENST00000437119.2_Splice_Site_p.Y397_splice	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	441					intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						CTGGTCTCATACTAGAGAAGA	0.512													7	8					0	0	1	0	0	G	43203169	A	G	43203169	5	3	256	1	0	0	0	0	0	0	1	0	848	405	14	3	241	3	ARFGAP3	22	43203169	Splice_Site	SNP	A	TCGA-KK-A6E8-01A-11D-A31L-08		43203169	8101397	54	13429											
FBLN1	2192	broad.mit.edu	37	chr22	45946380	45946380	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtctcttgcagacattgatGagtgtgtgactggcatccac	8	12	12	9	0	1	4	0	3	1	1	3	4	2	4	1	2	1	2	1	2	0	2			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr22:45946380G>A	ENST00000348697.2	+	14	1729	c.1582G>A	c.(1582-1584)Gag>Aag	p.E528K	FBLN1_ENST00000402984.3_Missense_Mutation_p.E566K|FBLN1_ENST00000442170.2_Missense_Mutation_p.E528K|FBLN1_ENST00000340923.5_Missense_Mutation_p.E528K|FBLN1_ENST00000327858.6_Missense_Mutation_p.E528K|FBLN1_ENST00000476366.1_3'UTR|FBLN1_ENST00000262722.7_Missense_Mutation_p.E528K			P23142	FBLN1_HUMAN	fibulin 1	528	EGF-like 9; calcium-binding.				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)		AGACATTGATGAGTGTGTGAC	0.587													9	35					0	0	1	0	0	A	45946380	G	A	45946380	3	1	256	1	0	0	0	0	1	0	0	0	5731	1291	45	2	1636	2	FBLN1	22	45946380	Missense_Mutation	SNP	G	TCGA-KK-A6E8-01A-11D-A31L-08	2743211	45946380	5358186	55	13430											
KDM6A	7403	broad.mit.edu	37	chrX	44942769	44942769	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcgtgtcgtatcagcaggaAatcttctaagccatgttggt	9	13	11	8	2	3	0	1	0	2	0	4	1	3	1	1	2	3	3	1	2	3	4			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chrX:44942769A>T	ENST00000377967.4	+	23	3390	c.3349A>T	c.(3349-3351)Aat>Tat	p.N1117Y	KDM6A_ENST00000382899.4_Missense_Mutation_p.N1124Y|KDM6A_ENST00000543216.1_Missense_Mutation_p.N1038Y|KDM6A_ENST00000536777.1_Missense_Mutation_p.N1072Y	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1117	JmjC.				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						ATCAGCAGGAAATCTTCTAAG	0.413			"D, N, F, S"		"renal, oesophageal SCC, MM"								27	3					0	0	1	0	0	T	44942769	A	T	44942769	3	4	256	1	0	0	0	0	1	0	0	0	8180	14	1	5	3439	5	KDM6A	23	44942769	Missense_Mutation	SNP	A	TCGA-KK-A6E8-01A-11D-A31L-08		44942769	110327791	56	13431											
COL4A5	1287	broad.mit.edu	37	chrX	107938642	107938642	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctacagcttttggctggCaactgtagatgtgtcagaca	9	12	10	10	0	1	2	1	0	0	2	2	2	2	2	1	2	3	4	1	2	3	4			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chrX:107938642C>G	ENST00000328300.6	+	52	5211	c.4967C>G	c.(4966-4968)gCa>gGa	p.A1656G	COL4A5_ENST00000361603.2_Missense_Mutation_p.A1650G	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1650	Collagen IV NC1.		Missing (in APSX).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TTTTGGCTGGCAACTGTAGAT	0.448									Alport syndrome with Diffuse Leiomyomatosis				38	4					0	0	1	0	0	G	107938642	C	G	107938642	3	3	256	1	0	0	0	0	1	0	0	0	3717	710	25	4	5158	4	COL4A5	23	107938642	Missense_Mutation	SNP	C	TCGA-KK-A6E8-01A-11D-A31L-08	62995873	107938642	47331918	57	13432											
TRIM46	80128	broad.mit.edu	37	chr1	155147951	155147951	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgctgccctgtacccacaaCgtgtgccaggcctgtgcccg	5	8	12	16	2	0	0	0	0	0	0	0	0	0	0	5	1	6	2	5	1	2	1	rs149212033		TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr1:155147951C>T	ENST00000392451.2	+	2	236	c.153C>T	c.(151-153)aaC>aaT	p.N51N	TRIM46_ENST00000545012.1_Intron|TRIM46_ENST00000543729.1_Silent_p.N58N|TRIM46_ENST00000368382.1_Silent_p.N28N|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000368385.4_Silent_p.N51N|TRIM46_ENST00000334634.4_Silent_p.N51N|TRIM46_ENST00000368383.3_Silent_p.N51N			Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	51						intracellular	zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GTACCCACAACGTGTGCCAGG	0.607													13	169					0	0	1	0	0	T	155147951	C	T	155147951	2	4	257	1	0	0	0	0	0	0	0	1	16582	535	19	1		1	TRIM46	1	155147951	Silent	SNP	C	TCGA-QU-A6IL-01A-11D-A31L-08		155147951	94102670	1	13433											
DISC1	27185	broad.mit.edu	37	chr1	231931019	231931019	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaataaaatccctcaacttgTcacttaaagaaatcactact	17	11	3	10	0	3	1	3	0	0	1	4	2	4	1	1	0	2	0	1	0	8	4			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr1:231931019T>C	ENST00000439617.2	+	7	1719	c.1666T>C	c.(1666-1668)Tca>Cca	p.S556P	DISC1_ENST00000539444.1_Missense_Mutation_p.S556P|DISC1_ENST00000366636.4_Missense_Mutation_p.S556P|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000537876.1_Intron|DISC1_ENST00000535983.1_Missense_Mutation_p.S556P|TRAX_ENST00000602962.1_3'UTR|DISC1_ENST00000602281.1_Missense_Mutation_p.S556P|DISC1_ENST00000366633.3_Missense_Mutation_p.S556P	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	556	Interaction with TRAF3IP1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.|Required for localization to punctate cytoplasmic foci.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				CCTCAACTTGTCACTTAAAGA	0.348													6	46					0	0	1	0	0	C	231931019	T	C	231931019	3	2	257	1	0	0	0	0	1	0	0	0	4566	1667	58	3	2065	3	DISC1	1	231931019	Missense_Mutation	SNP	T	TCGA-QU-A6IL-01A-11D-A31L-08	76783068	231931019	17319602	2	13434											
GKN2	200504	broad.mit.edu	37	chr2	69173530	69173530	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaccaatccacgtctttgatCagagactccagagggttgta	12	10	9	10	1	2	3	1	1	1	2	4	4	4	3	3	1	1	2	3	1	3	3			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr2:69173530C>G	ENST00000481498.1	-	5	396	c.378G>C	c.(376-378)ctG>ctC	p.L126L	GKN2_ENST00000328895.4_Silent_p.L126L			Q86XP6	GKN2_HUMAN	gastrokine 2	126	BRICHOS.					extracellular region				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	15						CGTCTTTGATCAGAGACTCCA	0.433													82	102					0	0	1	0	0	G	69173530	C	G	69173530	2	3	257	1	0	0	0	0	0	0	0	1	6467	813	29	4		4	GKN2	2	69173530	Silent	SNP	C	TCGA-QU-A6IL-01A-11D-A31L-08		69173530	174025843	3	13435											
DLX2	1746	broad.mit.edu	37	chr2	172967129	172967131	+	In_Frame_Del	DEL	GCT	GCT	-																															gactcctggggcttgtggagGctgctgctgctgctgctgtt																										TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr2:172967129_172967131delGCT	ENST00000234198.4	-	1	497_499	c.136_138delAGC	c.(136-138)del	p.S46del	DLX2_ENST00000466293.2_In_Frame_Del_p.S46del	NM_004405.3	NP_004396.1	Q07687	DLX2_HUMAN	distal-less homeobox 2	46	Poly-Ser.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GCTTGTGGAGgctgctgctgctg	0.739													2	4	---	---	---	---						-	172967131	GCT	-	172967129	7	5	257	1	0	1	0	1	0	0	0	0	4599	1194	42	0	860	0	DLX2	2	172967129	In_Frame_Del	DEL	GCT	TCGA-QU-A6IL-01A-11D-A31L-08	103793599	172967129	70232244	4	13436											
CUL3	8452	broad.mit.edu	37	chr2	225362501	225362501	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccataaaatgtggcattgAgatctgcagaacccatatga	14	10	9	8	0	1	3	0	2	1	2	2	4	2	3	2	1	2	2	2	1	4	3			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr2:225362501A>C	ENST00000264414.4	-	12	2014	c.1676T>G	c.(1675-1677)cTc>cGc	p.L559R	CUL3_ENST00000409777.1_Missense_Mutation_p.L535R|CUL3_ENST00000344951.4_Missense_Mutation_p.L493R|CUL3_ENST00000409096.1_Missense_Mutation_p.L535R	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	559					cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TGTGGCATTGAGATCTGCAGA	0.353													32	63					0	0	1	0	0	C	225362501	A	C	225362501	3	2	257	1	0	0	0	0	1	0	0	0	4079	304	11	5	650	5	CUL3	2	225362501	Missense_Mutation	SNP	A	TCGA-QU-A6IL-01A-11D-A31L-08	52395372	225362501	17836872	5	13437											
SPHKAP	80309	broad.mit.edu	37	chr2	228846444	228846444	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	actgccttattatcccagttCcaagagccagtcaaagagac	13	9	7	12	0	1	2	1	0	0	2	3	3	3	2	4	0	2	1	4	0	4	3			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr2:228846444C>A	ENST00000392056.3	-	12	5138	c.5092G>T	c.(5092-5094)Gaa>Taa	p.E1698*	SPHKAP_ENST00000344657.5_Nonsense_Mutation_p.E1669*	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1698						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TATCCCAGTTCCAAGAGCCAG	0.428													7	73					0.00448238	0.00465478	1	1	0	A	228846444	C	A	228846444	4	1	257	1	0	0	0	0	0	1	0	0	15104	864	30	4	14	4	SPHKAP	2	228846444	Nonsense_Mutation	SNP	C	TCGA-QU-A6IL-01A-11D-A31L-08	3483943	228846444	14352929	6	13438											
SCN5A	6331	broad.mit.edu	37	chr3	38651315	38651315	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttgagcgctgtgaagttgcGcacgcacttgtgccttaggt	6	12	14	9	3	0	2	0	2	0	0	0	2	0	2	1	1	3	5	1	1	2	4			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr3:38651315G>A	ENST00000413689.1	-	7	1037	c.844C>T	c.(844-846)Cgc>Tgc	p.R282C	SCN5A_ENST00000451551.2_Missense_Mutation_p.R282C|SCN5A_ENST00000455624.2_Missense_Mutation_p.R282C|SCN5A_ENST00000449557.2_Missense_Mutation_p.R282C|SCN5A_ENST00000450102.2_Missense_Mutation_p.R282C|SCN5A_ENST00000443581.1_Missense_Mutation_p.R282C|SCN5A_ENST00000414099.2_Missense_Mutation_p.R282C|SCN5A_ENST00000425664.1_Missense_Mutation_p.R282C|SCN5A_ENST00000423572.2_Missense_Mutation_p.R282C|SCN5A_ENST00000333535.4_Missense_Mutation_p.R282C	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	282			R -> H (in BRS1).		blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GTGAAGTTGCGCACGCACTTG	0.587													57	55					0	0	1	0	0	A	38651315	G	A	38651315	3	1	257	1	0	0	0	0	1	0	0	0	13976	1087	38	1	5294	1	SCN5A	3	38651315	Missense_Mutation	SNP	G	TCGA-QU-A6IL-01A-11D-A31L-08		38651315	159371115	7	13439											
VPRBP	9730	broad.mit.edu	37	chr3	51457368	51457368	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggtggcaactggattcttgCagcgagcatgttgttctcta	8	13	12	8	1	2	0	0	0	2	0	3	2	2	1	0	3	4	5	0	3	2	5			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr3:51457368C>T	ENST00000335891.5	-	7	1718	c.1709G>A	c.(1708-1710)tGc>tAc	p.C570Y				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	1019					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		TGGATTCTTGCAGCGAGCATG	0.488													5	164					0	0	1	0	0	T	51457368	C	T	51457368	3	4	257	1	0	0	0	0	1	0	0	0	17245	710	25	2	1511	2	VPRBP	3	51457368	Missense_Mutation	SNP	C	TCGA-QU-A6IL-01A-11D-A31L-08	12806053	51457368	146565062	8	13440											
WDR82	80335	broad.mit.edu	37	chr3	52304795	52304795	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatctgatgaggtccacaccAtatttcttactgtacagggt	10	14	8	9	0	2	2	0	2	2	0	3	2	3	2	2	2	2	1	2	2	4	5			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr3:52304795A>G	ENST00000296490.3	-	2	473	c.192T>C	c.(190-192)taT>taC	p.Y64Y		NM_025222.3	NP_079498.2	Q6UXN9	WDR82_HUMAN	WD repeat domain 82	64					histone H3-K4 methylation	chromatin|PTW/PP1 phosphatase complex|Set1C/COMPASS complex	protein binding								BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246)		GGTCCACACCATATTTCTTAC	0.383													20	197					0	0	1	0	0	G	52304795	A	G	52304795	2	3	257	1	0	0	0	0	0	0	0	1	17391	224	8	3		3	WDR82	3	52304795	Silent	SNP	A	TCGA-QU-A6IL-01A-11D-A31L-08	847427	52304795	145717635	9	13441											
ROBO1	6091	broad.mit.edu	37	chr3	79639042	79639042	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgatatcatgaccaaaaaaGgaacatgtttccatttcatc	15	12	6	8	0	2	2	2	2	0	0	4	3	3	3	2	1	1	1	2	1	5	3			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr3:79639042G>T	ENST00000464233.1	-	2	133	c.20C>A	c.(19-21)cCt>cAt	p.P7H		NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	7					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	p.P7H(2)		breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GACCAAAAAAGGAACATGTTT	0.383													6	152					8.12818e-05	8.77844e-05	1	1	0	T	79639042	G	T	79639042	3	4	257	1	0	0	0	0	1	0	0	0	13565	1000	35	4	5127	4	ROBO1	3	79639042	Missense_Mutation	SNP	G	TCGA-QU-A6IL-01A-11D-A31L-08	27334247	79639042	118383388	10	13442											
HPS3	84343	broad.mit.edu	37	chr3	148885755	148885755	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagaagtatcaactctacCtgtcatcattaaaaggtaaa	17	10	7	7	0	4	1	3	0	1	1	4	3	4	1	1	1	2	2	1	1	8	4			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr3:148885755C>A	ENST00000296051.2	+	16	3012	c.2872C>A	c.(2872-2874)Ctg>Atg	p.L958M	HPS3_ENST00000460120.1_Missense_Mutation_p.L793M	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	958						cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TCAACTCTACCTGTCATCATT	0.299									Hermansky-Pudlak syndrome				21	30					3.8784e-16	4.55291e-16	1	1	0	A	148885755	C	A	148885755	3	1	257	1	0	0	0	0	1	0	0	0	7381	680	24	4	2934	4	HPS3	3	148885755	Missense_Mutation	SNP	C	TCGA-QU-A6IL-01A-11D-A31L-08	69246713	148885755	49136675	11	13443											
SPATA18	132671	broad.mit.edu	37	chr4	52960700	52960700	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttatattttccagatgtctcGaagtcggagtccttctccaa	9	15	7	10	2	2	1	0	0	2	1	7	3	4	2	3	1	0	0	3	1	4	5	rs143324533		TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr4:52960700G>A	ENST00000295213.4	+	12	1945	c.1571G>A	c.(1570-1572)cGa>cAa	p.R524Q	SPATA18_ENST00000419395.2_Missense_Mutation_p.R492Q	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	524					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			CAGATGTCTCGAAGTCGGAGT	0.343													5	53					0	0	1	0	0	A	52960700	G	A	52960700	3	1	257	1	0	0	0	0	1	0	0	0	15059	1058	37	1	1617	1	SPATA18	4	52960700	Missense_Mutation	SNP	G	TCGA-QU-A6IL-01A-11D-A31L-08		52960700	138193576	12	13444											
C4orf51	646603	broad.mit.edu	37	chr4	146650335	146650335	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttataggcacatcaaatttgGgattttggtgattgttttcc	9	18	9	5	0	1	1	1	1	0	0	2	2	2	2	1	3	0	2	1	3	3	8			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr4:146650335G>T	ENST00000438731.1	+	4	381	c.381G>T	c.(379-381)tgG>tgT	p.W127C		NM_001080531.1	NP_001074000.1	C9J302	CD051_HUMAN	chromosome 4 open reading frame 51	127										haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	6						ATCAAATTTGGGATTTTGGTG	0.313													5	7					5.9392e-07	6.54524e-07	1	1	0	T	146650335	G	T	146650335	3	4	257	1	0	0	0	0	1	0	0	0	2292	1241	43	4	395	4	C4orf51	4	146650335	Missense_Mutation	SNP	G	TCGA-QU-A6IL-01A-11D-A31L-08	93689635	146650335	44503941	13	13445											
DDX60	55601	broad.mit.edu	37	chr4	169173727	169173727	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccaggttcttctctagaCacttcactagattatcatgt	9	17	5	10	0	4	2	2	0	2	2	6	2	5	2	1	1	0	1	1	1	3	7			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr4:169173727C>T	ENST00000393743.3	-	27	3929	c.3638G>A	c.(3637-3639)tGt>tAt	p.C1213Y	DDX60_ENST00000505393.1_5'UTR	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1213							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		CTTCTCTAGACACTTCACTAG	0.388													65	112					0	0	1	0	0	T	169173727	C	T	169173727	3	4	257	1	0	0	0	0	1	0	0	0	4401	478	17	2	1548	2	DDX60	4	169173727	Missense_Mutation	SNP	C	TCGA-QU-A6IL-01A-11D-A31L-08	22523392	169173727	21980549	14	13446											
PCDHA10	0	broad.mit.edu	37	chr5	140237684	140237684	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctcgtcgcgggcttcagtggGcgtggcgcccgaggtggccc	2	7	18	14	6	1	0	1	0	0	0	3	1	1	0	2	5	0	1	2	5	0	1			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr5:140237684G>A	ENST00000307360.5	+	1	2051	c.2051G>A	c.(2050-2052)gGc>gAc	p.G684D	PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTTCAGTGGGCGTGGCGCCC	0.657													23	48					0	0	1	0	0	A	140237684	G	A	140237684	3	1	257	1	0	0	0	0	1	0	0	0	11567	1203	42	2	2053	2	PCDHA10	5	140237684	Missense_Mutation	SNP	G	TCGA-QU-A6IL-01A-11D-A31L-08		140237684	40677576	15	13447											
EGFR	1956	broad.mit.edu	37	chr7	55229298	55229298	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcagccgaggcagggaatgCgtggacaagtgcaaccttct	10	7	14	10	2	2	0	1	0	1	0	2	3	2	2	2	3	4	2	2	3	3	1			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr7:55229298C>T	ENST00000275493.2	+	13	1782	c.1605C>T	c.(1603-1605)tgC>tgT	p.C535C	EGFR_ENST00000344576.2_Silent_p.C535C|EGFR_ENST00000442591.1_Silent_p.C535C|EGFR_ENST00000342916.3_Silent_p.C535C|EGFR_ENST00000455089.1_Silent_p.C490C|EGFR_ENST00000454757.2_Silent_p.C482C	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	535					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.C535C(2)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GCAGGGAATGCGTGGACAAGT	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			4	222					0	0	1	0	0	T	55229298	C	T	55229298	2	4	257	1	0	0	0	0	0	0	0	1	4993	776	27	1		1	EGFR	7	55229298	Silent	SNP	C	TCGA-QU-A6IL-01A-11D-A31L-08		55229298	103909365	16	13448											
CADPS2	93664	broad.mit.edu	37	chr7	122303546	122303546	+	Frame_Shift_Del	DEL	A	A	-																															cgtttttctatgtttttcttAaatacttctctgaagtcatt																										TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr7:122303546delA	ENST00000334010.7	-	3	952	c.531delT	c.(529-531)ttfs	p.F177fs	CADPS2_ENST00000313070.7_Frame_Shift_Del_p.F177fs|CADPS2_ENST00000412584.2_Frame_Shift_Del_p.F177fs|CADPS2_ENST00000449022.2_Frame_Shift_Del_p.F177fs	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	177					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TGTTTTTCTTAAATACTTCTC	0.398													14	6	---	---	---	---						-	122303546	A	-	122303546	7	5	257	1	0	1	0	1	0	0	0	0	2589	359	13	0	3515	0	CADPS2	7	122303546	Frame_Shift_Del	DEL	A	TCGA-QU-A6IL-01A-11D-A31L-08	67074248	122303546	36835117	17	13449											
ARHGEF10	9639	broad.mit.edu	37	chr8	1900969	1900969	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggccctgccggtcccacgtCtgcaagggattcccaaagtg	7	8	12	14	2	1	0	0	0	1	0	3	1	3	1	4	3	2	1	4	3	2	1			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr8:1900969C>T	ENST00000518288.1	+	29	3731	c.3568C>T	c.(3568-3570)Ctg>Ttg	p.L1190L	ARHGEF10_ENST00000262112.6_Silent_p.L1162L|ARHGEF10_ENST00000398564.1_Silent_p.L1191L|ARHGEF10_ENST00000521927.1_3'UTR|ARHGEF10_ENST00000349830.3_Silent_p.L1166L|ARHGEF10_ENST00000520359.1_Silent_p.L1128L			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	1191					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		GGTCCCACGTCTGCAAGGGAT	0.622													39	13					0	0	1	0	0	T	1900969	C	T	1900969	2	4	257	1	0	0	0	0	0	0	0	1	891	912	32	2		2	ARHGEF10	8	1900969	Silent	SNP	C	TCGA-QU-A6IL-01A-11D-A31L-08		1900969	144463053	18	13450											
VPS13B	157680	broad.mit.edu	37	chr8	100866042	100866042	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttggaagaatacaaggaaaaAtgttttatcaaactttgcat	17	13	7	4	0	1	1	1	0	0	1	1	3	1	3	0	2	3	2	0	2	8	5			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr8:100866042A>G	ENST00000358544.2	+	56	10611	c.10500A>G	c.(10498-10500)aaA>aaG	p.K3500K	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.K3475K	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3500					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)			ACAAGGAAAAATGTTTTATCA	0.393													5	273					0	0	1	0	0	G	100866042	A	G	100866042	2	3	257	1	0	0	0	0	0	0	0	1	17250	98	4	3		3	VPS13B	8	100866042	Silent	SNP	A	TCGA-QU-A6IL-01A-11D-A31L-08	98965073	100866042	45497980	19	13451											
ODF1	4956	broad.mit.edu	37	chr8	103564150	103564150	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccaagcgatcacgctcttgCggcctgtgtgatctctaccc	6	11	9	15	3	3	1	1	1	2	0	5	2	4	1	3	1	3	1	3	1	2	2	rs150929068		TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr8:103564150C>T	ENST00000285402.3	+	1	351	c.195C>T	c.(193-195)tgC>tgT	p.C65C		NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	65	2 X 5 AA repeats of [RC]-C-L-C-D.				cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			CACGCTCTTGCGGCCTGTGTG	0.507													5	368					0	0	1	0	0	T	103564150	C	T	103564150	2	4	257	1	0	0	0	0	0	0	0	1	10874	776	27	1		1	ODF1	8	103564150	Silent	SNP	C	TCGA-QU-A6IL-01A-11D-A31L-08	2698108	103564150	42799872	20	13452											
MTAP	4507	broad.mit.edu	37	chr9	21854677	21854677	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggactccggtgccactcaaaGgggacaatggtcacaatcga	12	6	12	11	2	2	0	2	0	0	0	4	3	3	2	2	5	1	0	2	5	3	0			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr9:21854677G>A	ENST00000380172.4	+	6	704	c.498G>A	c.(496-498)aaG>aaA	p.K166K	MTAP_ENST00000460874.2_Silent_p.K183K|RP11-145E5.5_ENST00000404796.2_Intron|MTAP_ENST00000580900.1_Silent_p.K166K	NM_002451.3	NP_002442.2	Q13126	MTAP_HUMAN	methylthioadenosine phosphorylase	166					nucleoside metabolic process	cytoplasm	phosphorylase activity|S-methyl-5-thioadenosine phosphorylase activity	p.0(1)|p.0?(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|lung(3)|pancreas(1)	10		all_cancers(5;0)|Hepatocellular(5;0.00162)|Colorectal(97;0.173)		GBM - Glioblastoma multiforme(3;0)|Lung(24;2.24e-57)|LUSC - Lung squamous cell carcinoma(38;1.97e-36)|STAD - Stomach adenocarcinoma(4;3.26e-05)|OV - Ovarian serous cystadenocarcinoma(39;0.00931)|COAD - Colon adenocarcinoma(8;0.15)	Adenine(DB00173)	GCCACTCAAAGGGGACAATGG	0.473													40	62					0	0	1	0	0	A	21854677	G	A	21854677	2	1	257	1	0	0	0	0	0	0	0	1	9959	991	35	2		2	MTAP	9	21854677	Silent	SNP	G	TCGA-QU-A6IL-01A-11D-A31L-08		21854677	119358754	21	13453											
FRMPD1	22844	broad.mit.edu	37	chr9	37740871	37740871	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gataagctcactcccccaggCcccccgtcaggtgagccgtc	7	6	10	18	2	2	1	2	1	0	0	4	2	3	1	6	2	2	1	6	2	1	1			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr9:37740871C>G	ENST00000539465.1	+	15	2939	c.2346C>G	c.(2344-2346)ggC>ggG	p.G782G	FRMPD1_ENST00000377765.3_Silent_p.G782G|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000536622.1_Silent_p.G604G|FRMPD1_ENST00000541302.1_Silent_p.G651G			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	782						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CTCCCCCAGGCCCCCCGTCAG	0.637													19	39					0	0	1	0	0	G	37740871	C	G	37740871	2	3	257	1	0	0	0	0	0	0	0	1	6092	726	26	4		4	FRMPD1	9	37740871	Silent	SNP	C	TCGA-QU-A6IL-01A-11D-A31L-08	15886194	37740871	103472560	22	13454											
ACTL7B	10880	broad.mit.edu	37	chr9	111618107	111618107	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcatcttgagctgagtggccGcacctgtgtcccggaggctg	5	10	14	12	2	2	2	1	2	1	0	3	3	3	3	3	3	1	3	3	3	0	1			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr9:111618107G>A	ENST00000374667.3	-	1	1132	c.104C>T	c.(103-105)gCg>gTg	p.A35V		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	35						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CTGAGTGGCCGCACCTGTGTC	0.657													5	136					0	0	1	0	0	A	111618107	G	A	111618107	3	1	257	1	0	0	0	0	1	0	0	0	201	1087	38	1	1147	1	ACTL7B	9	111618107	Missense_Mutation	SNP	G	TCGA-QU-A6IL-01A-11D-A31L-08	73877236	111618107	29595324	23	13455											
CTNNAL1	8727	broad.mit.edu	37	chr9	111761374	111761374	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttagcttcaatacaagcaaTatttatttcttctttcaaat	13	19	2	7	0	4	0	2	0	2	0	4	0	4	0	0	0	3	2	0	0	8	10			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr9:111761374T>C	ENST00000374595.4	-	2	383	c.304A>G	c.(304-306)Att>Gtt	p.I102V	CTNNAL1_ENST00000325551.4_Missense_Mutation_p.I102V|CTNNAL1_ENST00000325580.6_Missense_Mutation_p.I102V|CTNNAL1_ENST00000374593.4_Missense_Mutation_p.I102V			Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	102					cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		ATACAAGCAATATTTATTTCT	0.338													42	53					0	0	1	0	0	C	111761374	T	C	111761374	3	2	257	1	0	0	0	0	1	0	0	0	4039	1406	49	3	1972	3	CTNNAL1	9	111761374	Missense_Mutation	SNP	T	TCGA-QU-A6IL-01A-11D-A31L-08	143267	111761374	29452057	24	13456											
PTGR1	22949	broad.mit.edu	37	chr9	114345847	114345848	+	Frame_Shift_Del	DEL	GT	GT	-																															cttcacaccacagatttcaaGtaggccaaagtaggcagtca																										TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr9:114345847_114345848delGT	ENST00000407693.2	-	6	661_662	c.399_400delAC	c.(397-402)ctttfs	p.LL133fs	PTGR1_ENST00000309195.5_Frame_Shift_Del_p.LL133fs|PTGR1_ENST00000538962.1_Frame_Shift_Del_p.LL133fs|PTGR1_ENST00000238248.3_Frame_Shift_Del_p.LL10fs	NM_001146108.1	NP_001139580.1	Q14914	PTGR1_HUMAN	prostaglandin reductase 1	133					leukotriene metabolic process	cytoplasm	15-oxoprostaglandin 13-oxidase activity|2-alkenal reductase activity|alcohol dehydrogenase (NAD) activity|zinc ion binding			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)	11						CAGATTTCAAGTAGGCCAAAGT	0.421													33	180	---	---	---	---						-	114345848	GT	-	114345847	7	5	257	1	0	1	0	1	0	0	0	0	12803	1029	36	0	640	0	PTGR1	9	114345847	Frame_Shift_Del	DEL	GT	TCGA-QU-A6IL-01A-11D-A31L-08	2584473	114345847	26867584	25	13457											
CACNA1B	774	broad.mit.edu	37	chr9	140809212	140809212	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgccatcattggcctggaGttctacatgggcaagttcca	8	13	10	10	0	2	0	1	0	1	0	3	1	3	1	3	3	2	3	3	3	2	5			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr9:140809212G>A	ENST00000371372.1	+	5	874	c.729G>A	c.(727-729)gaG>gaA	p.E243E	CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371355.4_Silent_p.E243E|CACNA1B_ENST00000371357.1_Silent_p.E243E|CACNA1B_ENST00000371363.1_Silent_p.E243E|CACNA1B_ENST00000277551.2_Silent_p.E243E	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	243					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TTGGCCTGGAGTTCTACATGG	0.557													6	26					0	0	1	0	0	A	140809212	G	A	140809212	2	1	257	1	0	0	0	0	0	0	0	1	2557	1020	36	2		2	CACNA1B	9	140809212	Silent	SNP	G	TCGA-QU-A6IL-01A-11D-A31L-08	26463365	140809212	404219	26	13458											
OR52D1	390066	broad.mit.edu	37	chr11	5510455	5510455	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcgactcccctactgtggTcaccgtgtcatgacacacac	9	8	9	15	2	2	1	2	1	0	0	3	2	3	1	3	2	1	0	3	2	1	1			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr11:5510455T>C	ENST00000322641.5	+	1	541	c.519T>C	c.(517-519)ggT>ggC	p.G173G	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTACTGTGGTCACCGTGTCA	0.512													9	226					0	0	1	0	0	C	5510455	T	C	5510455	2	2	257	1	0	0	0	0	0	0	0	1	11162	1654	58	3		3	OR52D1	11	5510455	Silent	SNP	T	TCGA-QU-A6IL-01A-11D-A31L-08		5510455	129496061	27	13459											
OR5M1	390168	broad.mit.edu	37	chr11	56380363	56380363	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaagagagagcttgagagatTaaagcctgcaactacaaaca	18	6	10	7	0	0	4	0	1	0	3	0	7	0	4	1	0	6	2	1	0	6	3			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr11:56380363T>G	ENST00000526538.1	-	1	615	c.616A>C	c.(616-618)Aat>Cat	p.N206H		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						CTTGAGAGATTAAAGCCTGCA	0.443													37	73					0	0	1	0	0	G	56380363	T	G	56380363	3	3	257	1	0	0	0	0	1	0	0	0	11219	1754	61	5	335	5	OR5M1	11	56380363	Missense_Mutation	SNP	T	TCGA-QU-A6IL-01A-11D-A31L-08	50869908	56380363	78626153	28	13460											
ARHGAP32	9743	broad.mit.edu	37	chr11	128844290	128844290	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagactgtaccaatgacttcTgacacccgtggtggtagggt	9	10	13	9	1	1	3	0	2	1	1	1	4	1	3	2	3	1	2	2	3	3	3			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr11:128844290T>C	ENST00000310343.9	-	20	2759	c.2760A>G	c.(2758-2760)tcA>tcG	p.S920S	ARHGAP32_ENST00000527272.1_Silent_p.S571S|ARHGAP32_ENST00000392657.3_Silent_p.S571S|ARHGAP32_ENST00000524655.1_Silent_p.S846S	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	920					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CAATGACTTCTGACACCCGTG	0.453													13	76					0	0	1	0	0	C	128844290	T	C	128844290	2	2	257	1	0	0	0	0	0	0	0	1	878	1567	55	3		3	ARHGAP32	11	128844290	Silent	SNP	T	TCGA-QU-A6IL-01A-11D-A31L-08	72463927	128844290	6162226	29	13461											
FOXA1	3169	broad.mit.edu	37	chr14	38061223	38061228	+	In_Frame_Del	DEL	TCTCGA	TCTCGA	-																															gcggcgcaagtagcagccgtTctcgaacatgttgccggagt																										TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr14:38061223_38061228delTCTCGA	ENST00000250448.2	-	2	822_827	c.761_766delTCGAGA	c.(760-768)tac>t	p.FEN254del	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_In_Frame_Del_p.FEN221del	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	254					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		TAGCAGCCGTTCTCGAACATGTTGCC	0.689													19	26	---	---	---	---						-	38061228	TCTCGA	-	38061223	7	5	257	1	0	1	0	1	0	0	0	0	6022	1783	62	0	656	0	FOXA1	14	38061223	In_Frame_Del	DEL	TCTCGA	TCGA-QU-A6IL-01A-11D-A31L-08		38061223	69288317	30	13462											
PHKB	5257	broad.mit.edu	37	chr16	47694671	47694671	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctgaactgggacagcagccgGatgtcaacattagtgaatgg	12	8	13	8	1	1	2	1	2	0	0	1	4	1	4	1	3	4	1	1	3	4	1			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr16:47694671G>A	ENST00000455779.1	+	23	2301	c.2116G>A	c.(2116-2118)Gat>Aat	p.D706N	PHKB_ENST00000566044.1_Missense_Mutation_p.D706N|PHKB_ENST00000299167.8_Missense_Mutation_p.D713N|PHKB_ENST00000323584.5_Missense_Mutation_p.D713N			Q93100	KPBB_HUMAN	phosphorylase kinase, beta	713					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				ACAGCAGCCGGATGTCAACAT	0.463													66	76					0	0	1	0	0	A	47694671	G	A	47694671	3	1	257	1	0	0	0	0	1	0	0	0	11893	1174	41	2	2282	2	PHKB	16	47694671	Missense_Mutation	SNP	G	TCGA-QU-A6IL-01A-11D-A31L-08		47694671	42660082	31	13463											
CDK10	8558	broad.mit.edu	37	chr16	89760586	89760586	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcttctgtgtgtaggtaccGagcccctgaactgctgttgg	5	13	13	10	1	1	1	0	1	1	0	1	2	1	1	3	2	5	5	3	2	3	4			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr16:89760586G>A	ENST00000331006.8	+	8	2214	c.473G>A	c.(472-474)cGa>cAa	p.R158Q	CDK10_ENST00000505473.1_Missense_Mutation_p.R134Q|CDK10_ENST00000353379.7_Missense_Mutation_p.R205Q			Q15131	CDK10_HUMAN	cyclin-dependent kinase 10	205	Protein kinase.				negative regulation of cell proliferation|traversing start control point of mitotic cell cycle		ATP binding|cyclin-dependent protein kinase activity|protein binding			ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0276)		TGTAGGTACCGAGCCCCTGAA	0.637													3	24					0	0	1	0	0	A	89760586	G	A	89760586	3	1	257	1	0	0	0	0	1	0	0	0	3147	1058	37	1	648	1	CDK10	16	89760586	Missense_Mutation	SNP	G	TCGA-QU-A6IL-01A-11D-A31L-08	42065915	89760586	594167	32	13464											
KCNH4	23415	broad.mit.edu	37	chr17	40323995	40323995	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacagccgcactgtcttcaGtaggtgcaccagcgaggtct	9	8	11	13	2	3	0	1	0	2	0	3	1	3	0	2	2	4	3	2	2	2	2			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr17:40323995G>A	ENST00000264661.3	-	7	1338	c.1006C>T	c.(1006-1008)Ctg>Ttg	p.L336L	KCNH4_ENST00000607371.1_Silent_p.L336L	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	336					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		aCTGTCTTCAGTAGGTGCACC	0.647													4	18					0	0	1	0	0	A	40323995	G	A	40323995	2	1	257	1	0	0	0	0	0	0	0	1	8078	1020	36	2		2	KCNH4	17	40323995	Silent	SNP	G	TCGA-QU-A6IL-01A-11D-A31L-08		40323995	40871215	33	13465											
GFAP	2670	broad.mit.edu	37	chr17	42989096	42989096	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaactggcgccggtagtCgttggcttcgtgcttggcct	3	12	14	12	4	0	0	0	0	0	0	2	0	0	0	2	4	3	5	2	4	2	4			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr17:42989096C>A	ENST00000253408.5	-	5	915	c.850G>T	c.(850-852)Gac>Tac	p.D284Y	GFAP_ENST00000588735.1_Intron|GFAP_ENST00000435360.2_Missense_Mutation_p.D284Y|GFAP_ENST00000586793.1_Missense_Mutation_p.D284Y	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	284	Coil 2B.|Rod.					cytoplasm|intermediate filament	structural constituent of cytoskeleton			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				CGCCGGTAGTCGTTGGCTTCG	0.682													39	53					2.91434e-09	3.27863e-09	1	1	0	A	42989096	C	A	42989096	3	1	257	1	0	0	0	0	1	0	0	0	6379	884	31	4	597	4	GFAP	17	42989096	Missense_Mutation	SNP	C	TCGA-QU-A6IL-01A-11D-A31L-08	2665101	42989096	38206114	34	13466											
NOTCH3	4854	broad.mit.edu	37	chr19	15278212	15278212	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcctcagcccccatgcctGgctcctctacctggaggggc	4	8	10	19	0	2	0	1	0	1	0	4	1	4	1	7	4	3	1	7	4	1	1			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr19:15278212G>A	ENST00000263388.2	-	29	5285	c.5210C>T	c.(5209-5211)cCa>cTa	p.P1737L		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1737					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CCCCATGCCTGGCTCCTCTAC	0.622													25	41					0	0	1	0	0	A	15278212	G	A	15278212	3	1	257	1	0	0	0	0	1	0	0	0	10597	1348	47	2	1775	2	NOTCH3	19	15278212	Missense_Mutation	SNP	G	TCGA-QU-A6IL-01A-11D-A31L-08		15278212	43850771	35	13467											
ZNF573	126231	broad.mit.edu	37	chr19	38230198	38230198	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gatgttgaaagagttttgaaCcagtagtataggtcttccca	12	13	10	6	0	1	3	0	2	1	1	2	4	2	3	2	1	1	4	2	1	5	7			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr19:38230198C>A	ENST00000339503.4	-	8	1520	c.1019G>T	c.(1018-1020)gGt>gTt	p.G340V	ZNF573_ENST00000392138.1_Missense_Mutation_p.G311V|ZNF573_ENST00000590414.2_Missense_Mutation_p.G398V|ZNF573_ENST00000536220.1_Missense_Mutation_p.G310V|ZNF573_ENST00000357309.3_Missense_Mutation_p.G310V	NM_152360.3	NP_689573.3	Q86YE8	ZN573_HUMAN	zinc finger protein 573	378					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			GAGTTTTGAACCAGTAGTATA	0.378													25	139					7.92952e-12	9.11051e-12	1	1	0	A	38230198	C	A	38230198	3	1	257	1	0	0	0	0	1	0	0	0	18062	507	18	4	808	4	ZNF573	19	38230198	Missense_Mutation	SNP	C	TCGA-QU-A6IL-01A-11D-A31L-08	22951986	38230198	20898785	36	13468											
SIPA1L3	23094	broad.mit.edu	37	chr19	38633280	38633280	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgacagagtccctccctacCgacagccttctgggagcttc	7	8	9	17	2	1	1	0	0	1	1	4	4	3	2	5	1	3	1	5	1	1	3			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr19:38633280C>A	ENST00000222345.6	+	12	3972	c.3463C>A	c.(3463-3465)Cga>Aga	p.R1155R		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1155					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CCCTCCCTACCGACAGCCTTC	0.572											OREG0025445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	132	225					1.74412e-57	2.09294e-57	1	1	0	A	38633280	C	A	38633280	2	1	257	1	0	0	0	0	0	0	0	1	14386	644	23	4		4	SIPA1L3	19	38633280	Silent	SNP	C	TCGA-QU-A6IL-01A-11D-A31L-08	403082	38633280	20495703	37	13469											
ZNF780B	163131	broad.mit.edu	37	chr19	40540948	40540948	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagggcttctcaccagtatgAaatttctgatgtcgaataag	13	12	9	7	1	2	2	1	2	2	0	4	3	2	2	1	1	0	2	1	1	5	4			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr19:40540948A>G	ENST00000434248.1	-	5	1883	c.1818T>C	c.(1816-1818)ttT>ttC	p.F606F	ZNF780B_ENST00000221355.6_Silent_p.F458F	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	606					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CACCAGTATGAAATTTCTGAT	0.418													9	129					0	0	1	0	0	G	40540948	A	G	40540948	2	3	257	1	0	0	0	0	0	0	0	1	18202	243	9	3		3	ZNF780B	19	40540948	Silent	SNP	A	TCGA-QU-A6IL-01A-11D-A31L-08	1907668	40540948	18588035	38	13470											
ZNF606	80095	broad.mit.edu	37	chr19	58490217	58490217	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aattatctcatgtttagtgaGggctgagcgttctctgaatg	9	15	11	6	1	2	3	1	3	2	0	4	3	2	3	0	1	1	3	0	1	4	4			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr19:58490217G>C	ENST00000341164.4	-	7	2451	c.1831C>G	c.(1831-1833)Ctc>Gtc	p.L611V	ZNF606_ENST00000536132.1_Missense_Mutation_p.L521V	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	611					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		TGTTTAGTGAGGGCTGAGCGT	0.433													44	43					0	0	1	0	0	C	58490217	G	C	58490217	3	2	257	1	0	0	0	0	1	0	0	0	18089	1000	35	4	551	4	ZNF606	19	58490217	Missense_Mutation	SNP	G	TCGA-QU-A6IL-01A-11D-A31L-08	17949269	58490217	638766	39	13471											
CHGB	1114	broad.mit.edu	37	chr20	5904578	5904578	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccagggtccccaagctggaCctgaaaaggcaatatgacag	13	5	12	11	0	0	2	0	2	0	0	1	3	1	3	4	3	1	2	4	3	5	1			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr20:5904578C>T	ENST00000378961.4	+	4	1992	c.1788C>T	c.(1786-1788)gaC>gaT	p.D596D		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	596						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						CCAAGCTGGACCTGAAAAGGC	0.517													7	64					0	0	1	0	0	T	5904578	C	T	5904578	2	4	257	1	0	0	0	0	0	0	0	1	3361	506	18	2		2	CHGB	20	5904578	Silent	SNP	C	TCGA-QU-A6IL-01A-11D-A31L-08		5904578	57120942	40	13472											
XPNPEP3	63929	broad.mit.edu	37	chr22	41277810	41277810	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actatctcaggtggaatatgCacttcgcagacacaaactaa	15	9	7	10	1	1	1	1	0	1	1	3	2	1	2	0	2	2	2	0	2	5	4			TCGA-QU-A6IL-01A-11D-A31L-08	TCGA-QU-A6IL-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d5ce82e-de92-420b-abab-003d7bee208e	c2fe33a1-6c76-42e6-9708-e7ea911d2f85	g.chr22:41277810C>T	ENST00000357137.4	+	3	302	c.218C>T	c.(217-219)gCa>gTa	p.A73V	XPNPEP3_ENST00000541156.1_Missense_Mutation_p.A73V|XPNPEP3_ENST00000544094.1_Missense_Mutation_p.A50V|XPNPEP3_ENST00000414396.1_Missense_Mutation_p.A73V	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	73					cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						GTGGAATATGCACTTCGCAGA	0.453													4	82					0	0	1	0	0	T	41277810	C	T	41277810	3	4	257	1	0	0	0	0	1	0	0	0	17504	710	25	2	228	2	XPNPEP3	22	41277810	Missense_Mutation	SNP	C	TCGA-QU-A6IL-01A-11D-A31L-08		41277810	10026756	41	13473											
ARHGEF10L	55160	broad.mit.edu	37	chr1	17914091	17914091	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtccccagccttgctcctgaGagggacacagaccccccact	8	6	9	18	0	0	2	0	1	0	2	2	4	2	3	7	1	2	1	7	1	0	1			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr1:17914091G>C	ENST00000361221.3	+	3	333	c.174G>C	c.(172-174)gaG>gaC	p.E58D	ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.E58D|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.E58D|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.E58D	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	58					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		TTGCTCCTGAGAGGGACACAG	0.587													78	211					0	0	1	0	0	C	17914091	G	C	17914091	3	2	258	1	0	0	0	0	1	0	0	0	892	933	33	4	180	4	ARHGEF10L	1	17914091	Missense_Mutation	SNP	G	TCGA-QU-A6IM-01A-11D-A31L-08		17914091	231336530	1	13474											
LUZP1	7798	broad.mit.edu	37	chr1	23419974	23419974	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctgctttaggtagtccaGaccacccttccttcttgatt	7	15	6	13	0	1	2	0	1	1	1	3	2	3	2	5	1	2	2	5	1	3	8			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr1:23419974G>T	ENST00000302291.4	-	4	1582	c.781C>A	c.(781-783)Ctg>Atg	p.L261M	LUZP1_ENST00000418342.1_Missense_Mutation_p.L261M|LUZP1_ENST00000374623.3_Missense_Mutation_p.L261M|LUZP1_ENST00000314174.5_Missense_Mutation_p.L261M			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	261						nucleus				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		AGGTAGTCCAGACCACCCTTC	0.408													19	38					7.41877e-09	7.76872e-09	1	1	0	T	23419974	G	T	23419974	3	4	258	1	0	0	0	0	1	0	0	0	9131	933	33	4	2457	4	LUZP1	1	23419974	Missense_Mutation	SNP	G	TCGA-QU-A6IM-01A-11D-A31L-08	5505883	23419974	225830647	2	13475											
TMEM57	55219	broad.mit.edu	37	chr1	25810628	25810628	+	Frame_Shift_Del	DEL	G	G	-																															ctggaacaagacattaaaaaGttaaaggctgacctgcaagc																										TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr1:25810628delG	ENST00000374343.4	+	7	1355	c.1176delG	c.(1174-1176)aafs	p.K392fs	TMEM57_ENST00000399763.3_Frame_Shift_Del_p.K34fs|TMEM57_ENST00000399766.3_Frame_Shift_Del_p.K165fs	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	392						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		ACATTAAAAAGTTAAAGGCTG	0.542													9	142	---	---	---	---						-	25810628	G	-	25810628	7	5	258	1	0	1	0	1	0	0	0	0	16244	1020	36	0	1202	0	TMEM57	1	25810628	Frame_Shift_Del	DEL	G	TCGA-QU-A6IM-01A-11D-A31L-08	2390654	25810628	223439993	3	13476											
INPP5B	3633	broad.mit.edu	37	chr1	38338661	38338661	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctctctcatgtaacacagtgTatgaatgggagacccaaaac	14	9	8	10	0	2	2	1	1	1	1	3	3	2	2	1	1	2	2	1	1	5	2			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr1:38338661T>C	ENST00000373023.2	-	19	2461	c.2368A>G	c.(2368-2370)Aca>Gca	p.T790A	INPP5B_ENST00000373024.3_Missense_Mutation_p.T710A|INPP5B_ENST00000373026.1_Missense_Mutation_p.T790A|INPP5B_ENST00000373027.1_Missense_Mutation_p.T546A	NM_005540.2	NP_005531.2	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	790					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TAACACAGTGTATGAATGGGA	0.443													9	38					0	0	1	0	0	C	38338661	T	C	38338661	3	2	258	1	0	0	0	0	1	0	0	0	7799	1638	57	3	637	3	INPP5B	1	38338661	Missense_Mutation	SNP	T	TCGA-QU-A6IM-01A-11D-A31L-08	12528033	38338661	210911960	4	13477											
PPIAL4G	644591	broad.mit.edu	37	chr1	143767776	143767776	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctttggaatcttgtctgcaaActgtttgatggagatgcggc	8	14	12	7	1	2	2	0	1	2	1	2	4	2	3	0	3	3	2	0	3	2	3			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr1:143767776A>C	ENST00000419275.1	-	1	105	c.73T>G	c.(73-75)Ttt>Gtt	p.F25V		NM_001123068.1	NP_001116540.1	A2BFH1	PAL4G_HUMAN	peptidylprolyl isomerase A (cyclophilin A)-like 4G	25	PPIase cyclophilin-type.				protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1)	14						TTGTCTGCAAACTGTTTGATG	0.478													81	245					0	0	1	0	0	C	143767776	A	C	143767776	3	2	258	1	0	0	0	0	1	0	0	0	12367	43	2	5	425	5	PPIAL4G	1	143767776	Missense_Mutation	SNP	A	TCGA-QU-A6IM-01A-11D-A31L-08	105429115	143767776	105482845	5	13478											
GJA5	2702	broad.mit.edu	37	chr1	147230980	147230980	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctctgccaccgggtactcgtAagagccagagccccggacct	8	6	11	16	3	1	2	0	0	1	2	2	3	1	3	6	2	4	2	6	2	2	2			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr1:147230980A>T	ENST00000271348.2	-	2	528	c.367T>A	c.(367-369)Tac>Aac	p.Y123N	GJA5_ENST00000369237.1_Missense_Mutation_p.Y123N	NM_005266.5|NM_181703.2	NP_005257.2|NP_859054.1	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	123					angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			GGGTACTCGTAAGAGCCAGAG	0.607													27	88					0	0	1	0	0	T	147230980	A	T	147230980	3	4	258	1	0	0	0	0	1	0	0	0	6446	362	13	5	713	5	GJA5	1	147230980	Missense_Mutation	SNP	A	TCGA-QU-A6IM-01A-11D-A31L-08	3463204	147230980	102019641	6	13479											
SLAMF6	114836	broad.mit.edu	37	chr1	160466070	160466070	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgtttcattgaaaagccAagtgatgaagttgaccttct	13	13	9	6	0	2	5	1	4	1	1	2	5	2	5	2	0	1	2	2	0	4	4			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr1:160466070A>T	ENST00000368059.3	-	2	232	c.163T>A	c.(163-165)Tgg>Agg	p.W55R	SLAMF6_ENST00000368055.1_Intron|SLAMF6_ENST00000368057.3_Missense_Mutation_p.W55R	NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4	NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1	Q96DU3	SLAF6_HUMAN	SLAM family member 6	55						integral to membrane|plasma membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			TTGAAAAGCCAAGTGATGAAG	0.463													59	168					0	0	1	0	0	T	160466070	A	T	160466070	3	4	258	1	0	0	0	0	1	0	0	0	14423	130	5	5	863	5	SLAMF6	1	160466070	Missense_Mutation	SNP	A	TCGA-QU-A6IM-01A-11D-A31L-08	13235090	160466070	88784551	7	13480											
NCF2	4688	broad.mit.edu	37	chr1	183539961	183539961	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaactgtcttgatccaccAcagatgccacgacctaaaat	15	8	6	12	1	1	3	0	1	1	2	2	4	2	3	4	0	2	0	4	0	3	2			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr1:183539961A>T	ENST00000413720.1	-	5	762	c.488T>A	c.(487-489)gTg>gAg	p.V163E	NCF2_ENST00000367535.3_Missense_Mutation_p.V208E|NCF2_ENST00000418089.1_Missense_Mutation_p.V127E|NCF2_ENST00000367536.1_Missense_Mutation_p.V208E	NM_001190794.1	NP_001177723.1	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	208					cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						TTGATCCACCACAGATGCCAC	0.532													21	41					0	0	1	0	0	T	183539961	A	T	183539961	3	4	258	1	0	0	0	0	1	0	0	0	10264	159	6	5	997	5	NCF2	1	183539961	Missense_Mutation	SNP	A	TCGA-QU-A6IM-01A-11D-A31L-08	23073891	183539961	65710660	8	13481											
HMCN1	83872	broad.mit.edu	37	chr1	186099650	186099650	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttttccagaacctccagtcTtcaaaggtgattatccttct	9	15	6	11	0	3	2	1	1	2	1	6	2	6	2	4	1	1	1	4	1	3	5			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr1:186099650T>C	ENST00000271588.4	+	85	13280	c.13051T>C	c.(13051-13053)Ttc>Ctc	p.F4351L	HMCN1_ENST00000367492.2_Missense_Mutation_p.F4351L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4351	Ig-like C2-type 43.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ACCTCCAGTCTTCAAAGGTGA	0.393													20	57					0	0	1	0	0	C	186099650	T	C	186099650	3	2	258	1	0	0	0	0	1	0	0	0	7261	1609	56	3	13389	3	HMCN1	1	186099650	Missense_Mutation	SNP	T	TCGA-QU-A6IM-01A-11D-A31L-08	2559689	186099650	63150971	9	13482											
SLC41A1	254428	broad.mit.edu	37	chr1	205768182	205768182	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcagggatccagccaaaGacgacggctgcgatggacgc	11	4	13	13	4	1	1	1	0	0	1	2	5	2	3	3	3	2	1	3	3	1	0			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr1:205768182G>T	ENST00000367137.3	-	5	1614	c.600C>A	c.(598-600)gtC>gtA	p.V200V	SLC41A1_ENST00000468057.1_5'UTR	NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	200						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			TCCAGCCAAAGACGACGGCTG	0.607													19	55					4.35082e-09	4.64366e-09	1	1	0	T	205768182	G	T	205768182	2	4	258	1	0	0	0	0	0	0	0	1	14684	929	33	4		4	SLC41A1	1	205768182	Silent	SNP	G	TCGA-QU-A6IM-01A-11D-A31L-08	19668532	205768182	43482439	10	13483											
USH2A	7399	broad.mit.edu	37	chr1	216246269	216246269	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcgactccaatcactatatActgaacctccttcatgcgag	11	11	5	14	2	2	1	2	1	0	0	5	3	4	1	3	0	3	0	3	0	5	4			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr1:216246269A>G	ENST00000366943.2	-	29	6205	c.5819T>C	c.(5818-5820)gTa>gCa	p.V1940A	RP11-22M7.2_ENST00000445619.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.V1940A|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1940	Fibronectin type-III 5.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATCACTATATACTGAACCTCC	0.368										HNSCC(13;0.011)			25	60					0	0	1	0	0	G	216246269	A	G	216246269	3	3	258	1	0	0	0	0	1	0	0	0	17096	391	14	3	9965	3	USH2A	1	216246269	Missense_Mutation	SNP	A	TCGA-QU-A6IM-01A-11D-A31L-08	10478087	216246269	33004352	11	13484											
BCL11A	53335	broad.mit.edu	37	chr2	60687905	60687905	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccctccacttcccgtgccGctgcgccccgagatccctcc	3	8	7	23	4	0	1	0	0	0	1	5	2	5	1	8	0	2	1	8	0	0	1			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr2:60687905G>A	ENST00000335712.6	-	4	2369	c.2142C>T	c.(2140-2142)agC>agT	p.S714S	BCL11A_ENST00000358510.4_Silent_p.S680S|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000538214.1_Silent_p.S680S|BCL11A_ENST00000537768.1_Silent_p.S383S|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000356842.4_Silent_p.S714S	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	714					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TTCCCGTGCCGCTGCGCCCCG	0.652			T	IGH@	B-CLL								6	98					0	0	1	0	0	A	60687905	G	A	60687905	2	1	258	1	0	0	0	0	0	0	0	1	1361	1078	38	1		1	BCL11A	2	60687905	Silent	SNP	G	TCGA-QU-A6IM-01A-11D-A31L-08		60687905	182511468	12	13485											
SCN7A	6332	broad.mit.edu	37	chr2	167289254	167289254	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctcaccaatgccagaaacagGtaaagtacctaaataaggaa	19	6	7	9	0	1	1	1	0	0	1	1	2	1	2	3	2	3	2	3	2	9	4			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr2:167289254G>T	ENST00000409855.1	-	15	2292	c.2166C>A	c.(2164-2166)taC>taA	p.Y722*		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	722					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						CCAGAAACAGGTAAAGTACCT	0.328													4	12					0.00909568	0.00926257	1	1	0	T	167289254	G	T	167289254	4	4	258	1	0	0	0	0	0	1	0	0	13977	1256	44	4	2926	4	SCN7A	2	167289254	Nonsense_Mutation	SNP	G	TCGA-QU-A6IM-01A-11D-A31L-08	106601349	167289254	75910119	13	13486											
CCDC108	255101	broad.mit.edu	37	chr2	219888790	219888790	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagaaagtgtgctgcttccAggagctgccctcagggtagg	9	9	14	9	0	1	1	1	0	0	1	2	2	2	2	2	3	4	4	2	3	3	3			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr2:219888790A>T	ENST00000341552.5	-	15	2625	c.2542T>A	c.(2542-2544)Tgg>Agg	p.W848R	CCDC108_ENST00000453220.1_Missense_Mutation_p.W848R|CCDC108_ENST00000441968.1_Missense_Mutation_p.W848R	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	848						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGCTGCTTCCAGGAGCTGCCC	0.602													27	82					0	0	1	0	0	T	219888790	A	T	219888790	3	4	258	1	0	0	0	0	1	0	0	0	2761	188	7	5	3319	5	CCDC108	2	219888790	Missense_Mutation	SNP	A	TCGA-QU-A6IM-01A-11D-A31L-08	52599536	219888790	23310583	14	13487											
DOCK10	55619	broad.mit.edu	37	chr2	225652092	225652092	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agagaaactccacacacatgTatagctgctccaccaggata	15	7	7	12	0	0	1	0	0	0	1	2	3	2	2	3	1	3	3	3	1	4	3			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr2:225652092T>A	ENST00000409592.3	-	49	5536	c.5423A>T	c.(5422-5424)tAc>tTc	p.Y1808F	DOCK10_ENST00000258390.7_Missense_Mutation_p.Y1814F			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1814	DHR-2.						GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CACACACATGTATAGCTGCTC	0.423													57	145					0	0	1	0	0	A	225652092	T	A	225652092	3	1	258	1	0	0	0	0	1	0	0	0	4712	1638	57	5	1151	5	DOCK10	2	225652092	Missense_Mutation	SNP	T	TCGA-QU-A6IM-01A-11D-A31L-08	5763302	225652092	17547281	15	13488											
CTNNB1	1499	broad.mit.edu	37	chr3	41266100	41266100	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaacagtcttacctggacTctggaatccattctggtgcc	9	11	9	12	0	3	0	0	0	3	0	4	2	4	2	3	3	4	1	3	3	3	2	rs121913416		TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr3:41266100T>G	ENST00000349496.5	+	3	377	c.97T>G	c.(97-99)Tct>Gct	p.S33A	CTNNB1_ENST00000396183.3_Missense_Mutation_p.S33A|CTNNB1_ENST00000453024.1_Missense_Mutation_p.S26A|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S33A|CTNNB1_ENST00000396185.3_Missense_Mutation_p.S33A	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	33			Missing (in hepatocellular carcinoma).|S -> F (in PTR, MDB and hepatocellular carcinoma).|S -> L (in hepatocellular carcinoma).|S -> Y (in colorectal cancer and PTR; enhances transactivation of target genes).		adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.A5_A80del(53)|p.S33P(47)|p.S33A(16)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.W25_D32del(4)|p.S33L(4)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.S33N(2)|p.S23_S33del(2)|p.V22_S33del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.Y30_S33del(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.M14_S45del(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.Y30_A97del(1)|p.W25_S33del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.D32fs*9(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.Y30_A80del(1)|p.A5_T40del(1)|p.S29_H36del(1)|p.A5_E54del(1)|p.W25_I35del(1)|p.S33_S37del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.D32_S33insS(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.S33T(1)|p.D32_H36>D(1)|p.A5_I35del(1)|p.D32_H36del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	TTACCTGGACTCTGGAATCCA	0.488		15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of				3	39					0	0	1	0	0	G	41266100	T	G	41266100	3	3	258	1	0	0	0	0	1	0	0	0	4040	1551	54	5	103	5	CTNNB1	3	41266100	Missense_Mutation	SNP	T	TCGA-QU-A6IM-01A-11D-A31L-08		41266100	156756330	16	13489											
CADPS	8618	broad.mit.edu	37	chr3	62751641	62751641	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaccggtccttgactgtctGcagctgctgtttgctgatct	6	14	10	11	1	2	2	0	2	2	0	3	2	3	2	2	1	5	5	2	1	1	2			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr3:62751641G>T	ENST00000383710.4	-	2	809	c.460C>A	c.(460-462)Cag>Aag	p.Q154K	CADPS_ENST00000283269.9_Missense_Mutation_p.Q154K|CADPS_ENST00000490353.2_Missense_Mutation_p.Q154K|CADPS_ENST00000357948.3_Missense_Mutation_p.Q154K	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	154					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TTGACTGTCTGCAGCTGCTGT	0.468													33	58					1.30293e-26	1.4179e-26	1	1	0	T	62751641	G	T	62751641	3	4	258	1	0	0	0	0	1	0	0	0	2588	1328	46	4	3790	4	CADPS	3	62751641	Missense_Mutation	SNP	G	TCGA-QU-A6IM-01A-11D-A31L-08	21485541	62751641	135270789	17	13490											
TMPRSS7	344805	broad.mit.edu	37	chr3	111795980	111795980	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtaactggctgggggcgaaGacacgaagcaggtgtgtgta	10	7	18	6	2	0	1	0	0	0	1	0	3	0	1	0	5	2	4	0	5	4	2			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr3:111795980G>A	ENST00000452346.2	+	16	2216	c.2213G>A	c.(2212-2214)aGa>aAa	p.R738K	TMPRSS7_ENST00000419127.1_Missense_Mutation_p.R612K			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	738	Peptidase S1.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TGGGGGCGAAGACACGAAGCA	0.517													13	52					0	0	1	0	0	A	111795980	G	A	111795980	3	1	258	1	0	0	0	0	1	0	0	0	16312	942	33	2	1885	2	TMPRSS7	3	111795980	Missense_Mutation	SNP	G	TCGA-QU-A6IM-01A-11D-A31L-08	49044339	111795980	86226450	18	13491											
PLCH1	23007	broad.mit.edu	37	chr3	155200544	155200544	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaccatgcagatcttgtgTggggttaactacaggatcgg	10	10	12	9	1	1	1	0	0	1	1	2	2	1	2	1	4	3	2	1	4	2	3			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr3:155200544T>C	ENST00000460012.1	-	23	3538	c.3181A>G	c.(3181-3183)Aca>Gca	p.T1061A	PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000340059.7_Missense_Mutation_p.T1099A|PLCH1_ENST00000334686.6_Missense_Mutation_p.T1061A|PLCH1_ENST00000414191.1_Missense_Mutation_p.T1061A			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1099					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AGATCTTGTGTGGGGTTAACT	0.478													46	134					0	0	1	0	0	C	155200544	T	C	155200544	3	2	258	1	0	0	0	0	1	0	0	0	12085	1696	59	3	1790	3	PLCH1	3	155200544	Missense_Mutation	SNP	T	TCGA-QU-A6IM-01A-11D-A31L-08	43404564	155200544	42821886	19	13492											
VEPH1	79674	broad.mit.edu	37	chr3	157081347	157081347	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aattctctgagtctatatgtAtaatatttgggtatgaaact	13	17	7	4	0	2	2	0	2	2	0	3	2	2	2	0	1	1	2	0	1	8	8			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr3:157081347A>G	ENST00000362010.2	-	9	1848	c.1541T>C	c.(1540-1542)aTa>aCa	p.I514T	VEPH1_ENST00000392833.2_Missense_Mutation_p.I514T|VEPH1_ENST00000543418.1_Missense_Mutation_p.I514T|VEPH1_ENST00000392832.2_Missense_Mutation_p.I514T|RP11-550I24.2_ENST00000487238.1_RNA	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	514						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			GTCTATATGTATAATATTTGG	0.413													31	76					0	0	1	0	0	G	157081347	A	G	157081347	3	3	258	1	0	0	0	0	1	0	0	0	17214	449	16	3	984	3	VEPH1	3	157081347	Missense_Mutation	SNP	A	TCGA-QU-A6IM-01A-11D-A31L-08	1880803	157081347	40941083	20	13493											
FAM13A	10144	broad.mit.edu	37	chr4	89702352	89702352	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgtcatgaagctcagaaagTttagtactggatttctgacg	11	14	10	6	1	3	3	2	2	1	1	3	4	3	4	0	1	2	3	0	1	4	5			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr4:89702352T>C	ENST00000264344.5	-	11	1629	c.1422A>G	c.(1420-1422)aaA>aaG	p.K474K	FAM13A_ENST00000513837.1_Silent_p.K120K|FAM13A_ENST00000503556.1_Silent_p.K134K|FAM13A_ENST00000511976.1_Intron|FAM13A_ENST00000395002.2_Silent_p.K148K|FAM13A_ENST00000502459.1_5'UTR|FAM13A_ENST00000508369.1_Silent_p.K148K	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	474					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						GCTCAGAAAGTTTAGTACTGG	0.358													31	69					0	0	1	0	0	C	89702352	T	C	89702352	2	2	258	1	0	0	0	0	0	0	0	1	5482	1722	60	3		3	FAM13A	4	89702352	Silent	SNP	T	TCGA-QU-A6IM-01A-11D-A31L-08		89702352	101451924	21	13494											
CARD6	84674	broad.mit.edu	37	chr5	40853136	40853136	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgagaaggaatgggacttgCtaatgtttttaggagaggct	11	12	15	3	0	0	2	0	1	0	2	0	6	0	4	0	4	1	3	0	4	4	5			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr5:40853136C>T	ENST00000254691.5	+	3	1901	c.1702C>T	c.(1702-1704)Cta>Tta	p.L568L	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	568					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						ATGGGACTTGCTAATGTTTTT	0.398													8	129					0	0	1	0	0	T	40853136	C	T	40853136	2	4	258	1	0	0	0	0	0	0	0	1	2668	796	28	2		2	CARD6	5	40853136	Silent	SNP	C	TCGA-QU-A6IM-01A-11D-A31L-08		40853136	140062124	22	13495											
DHFR	1719	broad.mit.edu	37	chr5	79933789	79933789	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtaagttttaaggcatcatcTagacttctggaaagaaaatg	15	12	9	5	0	3	2	1	0	2	2	3	3	3	3	0	2	0	3	0	2	6	5			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr5:79933789T>C	ENST00000439211.2	-	4	775	c.282A>G	c.(280-282)ctA>ctG	p.L94L	DHFR_ENST00000505337.1_Silent_p.L94L|DHFR_ENST00000511032.1_Silent_p.L94L|DHFR_ENST00000504396.1_Silent_p.L42L|DHFR_ENST00000513048.1_Intron	NM_000791.3	NP_000782.1	P00374	DYR_HUMAN	dihydrofolate reductase	94	DHFR.				folic acid metabolic process|glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to methotrexate|tetrahydrofolate metabolic process	cytosol	dihydrofolate reductase activity|drug binding|folate reductase activity|NADP binding			kidney(1)|large_intestine(1)	2		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.69e-46)|Epithelial(54;7.49e-41)|all cancers(79;1.54e-35)	Dapsone(DB00250)|Dimethyl sulfoxide(DB01093)|Lamotrigine(DB00555)|Methotrexate(DB00563)|NADH(DB00157)|Pemetrexed(DB00642)|Proguanil(DB01131)|Pyrimethamine(DB00205)|Trimethoprim(DB00440)|Trimetrexate(DB01157)	AGGCATCATCTAGACTTCTGG	0.353													21	52					0	0	1	0	0	C	79933789	T	C	79933789	2	2	258	1	0	0	0	0	0	0	0	1	4509	1509	53	3		3	DHFR	5	79933789	Silent	SNP	T	TCGA-QU-A6IM-01A-11D-A31L-08	39080653	79933789	100981471	23	13496											
PCDHA5	0	broad.mit.edu	37	chr5	140201645	140201645	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atcgaccgggaggagctgtgCcggcggagggcggagtgcag	7	4	21	9	5	0	0	0	0	0	0	1	5	0	4	2	6	3	2	2	6	0	0			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr5:140201645C>T	ENST00000529859.1	+	1	285	c.285C>T	c.(283-285)tgC>tgT	p.C95C	PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000378126.3_Silent_p.C95C|PCDHA5_ENST00000529619.1_Silent_p.C95C|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAGCTGTGCCGGCGGAGGG	0.587													5	260					0	0	1	0	0	T	140201645	C	T	140201645	2	4	258	1	0	0	0	0	0	0	0	1	11574	747	26	2		2	PCDHA5	5	140201645	Silent	SNP	C	TCGA-QU-A6IM-01A-11D-A31L-08	60267856	140201645	40713615	24	13497											
DIAPH1	1729	broad.mit.edu	37	chr5	140963116	140963116	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgagcagaggcatatcccGcaagcctgacctcaactcct	10	7	9	15	1	1	3	1	2	0	1	3	3	3	3	4	1	3	4	4	1	3	1			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr5:140963116G>A	ENST00000253811.6	-	5	609	c.469C>T	c.(469-471)Cgg>Tgg	p.R157W	DIAPH1_ENST00000398557.4_Missense_Mutation_p.R157W|DIAPH1_ENST00000398562.2_Missense_Mutation_p.R148W|DIAPH1_ENST00000398566.3_Missense_Mutation_p.R148W|DIAPH1_ENST00000389054.3_Missense_Mutation_p.R157W|DIAPH1_ENST00000389057.5_Missense_Mutation_p.R148W|DIAPH1_ENST00000520569.1_Missense_Mutation_p.R103W|DIAPH1_ENST00000518047.1_Missense_Mutation_p.R148W			O60610	DIAP1_HUMAN	diaphanous-related formin 1	157	GBD/FH3.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCATATCCCGCAAGCCTGAC	0.512													4	131					0	0	1	0	0	A	140963116	G	A	140963116	3	1	258	1	0	0	0	0	1	0	0	0	4546	1086	38	1	3445	1	DIAPH1	5	140963116	Missense_Mutation	SNP	G	TCGA-QU-A6IM-01A-11D-A31L-08	761471	140963116	39952144	25	13498											
DOCK2	1794	broad.mit.edu	37	chr5	169508849	169508849	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgctctccttccagcccTggcgctctcagtggcaggca	4	10	10	17	1	3	0	1	0	3	0	6	0	4	0	3	3	2	4	3	3	0	1			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr5:169508849T>A	ENST00000256935.8	+	51	5371	c.5291T>A	c.(5290-5292)cTg>cAg	p.L1764Q	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.L825Q|DOCK2_ENST00000520908.1_Missense_Mutation_p.L1256Q	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1764					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTTCCAGCCCTGGCGCTCTCA	0.627													17	43					0	0	1	0	0	A	169508849	T	A	169508849	3	1	258	1	0	0	0	0	1	0	0	0	4714	1580	55	5	5493	5	DOCK2	5	169508849	Missense_Mutation	SNP	T	TCGA-QU-A6IM-01A-11D-A31L-08	28545733	169508849	11406411	26	13499											
KCNIP1	0	broad.mit.edu	37	chr5	170149724	170149724	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttccccttctcaggactttgTaaccgctctgtcgattttat	6	17	6	12	2	2	0	1	0	2	0	5	2	3	1	3	1	1	2	3	1	2	6			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr5:170149724T>A	ENST00000328939.4	+	5	872	c.335T>A	c.(334-336)gTa>gAa	p.V112E	KCNIP1_ENST00000411494.1_Missense_Mutation_p.V123E|KCNIP1_ENST00000520740.1_Missense_Mutation_p.V84E|KCNIP1_ENST00000377360.4_Missense_Mutation_p.V121E|KCNIP1_ENST00000434108.1_Missense_Mutation_p.V137E|KCNIP1_ENST00000390656.4_Missense_Mutation_p.V112E	NM_001034837.1|NM_014592.2	NP_001030009.1|NP_055407.1	Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1	123	EF-hand 2.				detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity			autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGGACTTTGTAACCGCTCTG	0.428													7	35					0	0	1	0	0	A	170149724	T	A	170149724	3	1	258	1	0	0	0	0	1	0	0	0	8083	1638	57	5	482	5	KCNIP1	5	170149724	Missense_Mutation	SNP	T	TCGA-QU-A6IM-01A-11D-A31L-08	640875	170149724	10765536	27	13500											
VARS	7407	broad.mit.edu	37	chr6	31747573	31747573	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacctggtccaccccattcaGtacaggtttcaggcactcct	8	10	7	16	0	2	0	2	0	0	0	4	0	4	0	5	3	1	3	5	3	1	3			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr6:31747573G>C	ENST00000375663.3	-	27	3540	c.3100C>G	c.(3100-3102)Ctg>Gtg	p.L1034V		NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	1034					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	ACCCCATTCAGTACAGGTTTC	0.622													5	40					0	0	1	0	0	C	31747573	G	C	31747573	3	2	258	1	0	0	0	0	1	0	0	0	17183	1020	36	4	710	4	VARS	6	31747573	Missense_Mutation	SNP	G	TCGA-QU-A6IM-01A-11D-A31L-08		31747573	139367494	28	13501											
KCNK5	8645	broad.mit.edu	37	chr6	39163706	39163706	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcattgggccagttccagtTgttgaaggtctggttccctg	5	14	13	9	0	1	1	0	1	1	0	3	1	3	1	3	3	1	5	3	3	1	5			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr6:39163706T>A	ENST00000359534.3	-	2	582	c.244A>T	c.(244-246)Aac>Tac	p.N82Y		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	82					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						CAGTTCCAGTTGTTGAAGGTC	0.502													17	19					0	0	1	0	0	A	39163706	T	A	39163706	3	1	258	1	0	0	0	0	1	0	0	0	8113	1812	63	5	1271	5	KCNK5	6	39163706	Missense_Mutation	SNP	T	TCGA-QU-A6IM-01A-11D-A31L-08	7416133	39163706	131951361	29	13502											
UBR2	23304	broad.mit.edu	37	chr6	42657359	42657359	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcaaaaccaaaggctgttttTattctcctccttaccttgat	10	15	5	11	0	1	1	0	1	1	0	3	1	2	1	4	1	2	3	4	1	5	6			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr6:42657359T>G	ENST00000372901.1	+	46	5335	c.5077T>G	c.(5077-5079)Tat>Gat	p.Y1693D	UBR2_ENST00000372883.3_3'UTR|UBR2_ENST00000372899.1_Missense_Mutation_p.Y1693D			Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1693					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			AGGCTGTTTTTATTCTCCTCC	0.468													128	302					0	0	1	0	0	G	42657359	T	G	42657359	3	3	258	1	0	0	0	0	1	0	0	0	16963	1754	61	5	5405	5	UBR2	6	42657359	Missense_Mutation	SNP	T	TCGA-QU-A6IM-01A-11D-A31L-08	3493653	42657359	128457708	30	13503											
PHIP	55023	broad.mit.edu	37	chr6	79770385	79770385	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctatgagaaaattttcatacTtttatttgtgcgtagtaaag	13	17	7	4	1	1	1	1	1	0	1	1	2	1	1	0	0	2	2	0	0	8	9			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr6:79770385T>A	ENST00000275034.4	-	5	507	c.340_splice	c.e5+1	p.S114_splice		NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	114					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		ATTTTCATACTTTTATTTGTG	0.333													7	53					0	0	1	0	0	A	79770385	T	A	79770385	5	1	258	1	0	0	0	0	0	0	1	0	11890	1623	56	5	5269	5	PHIP	6	79770385	Splice_Site	SNP	T	TCGA-QU-A6IM-01A-11D-A31L-08	37113026	79770385	91344682	31	13504											
ME1	4199	broad.mit.edu	37	chr6	84140595	84140595	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caggtgggcctgcgggtttaCcttgttgaggtgagggttcc	4	12	17	8	1	0	2	0	2	0	0	1	2	1	2	3	5	2	3	3	5	1	5			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr6:84140595C>T	ENST00000369705.3	-	1	195		c.e1+1		ME1_ENST00000543031.1_Splice_Site|ME1_ENST00000541327.1_Splice_Site	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic						carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	TGCGGGTTTACCTTGTTGAGG	0.716													6	19					0	0	1	0	0	T	84140595	C	T	84140595	5	4	258	1	0	0	0	0	0	0	1	0	9467	521	18	2	1695	2	ME1	6	84140595	Splice_Site	SNP	C	TCGA-QU-A6IM-01A-11D-A31L-08	4370210	84140595	86974472	32	13505											
EPHA7	2045	broad.mit.edu	37	chr6	94066494	94066494	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctgggatcggcttaagtcaGaaactccatttacagcttca	11	12	8	10	1	3	1	2	0	1	1	5	2	4	2	1	2	3	2	1	2	3	4			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr6:94066494G>C	ENST00000369303.4	-	5	1449	c.1265C>G	c.(1264-1266)tCt>tGt	p.S422C		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	422	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GCTTAAGTCAGAAACTCCATT	0.433													14	59					0	0	1	0	0	C	94066494	G	C	94066494	3	2	258	1	0	0	0	0	1	0	0	0	5200	942	33	4	1783	4	EPHA7	6	94066494	Missense_Mutation	SNP	G	TCGA-QU-A6IM-01A-11D-A31L-08	9925899	94066494	77048573	33	13506											
TRDN	10345	broad.mit.edu	37	chr6	123786032	123786033	+	Frame_Shift_Ins	INS	-	-	A																															ctacaatagagatctttaagINSaaaaaaaaaagtacttgcct																										TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr6:123786032_123786033insA	ENST00000546248.1	-	9	1022_1023	c.889_890insT	c.(889-891)ttafs	p.L297fs	RP11-532N4.2_ENST00000589182.1_RNA|RP11-532N4.2_ENST00000434768.1_RNA|TRDN_ENST00000398178.3_Intron|RP11-532N4.2_ENST00000587106.1_RNA|TRDN_ENST00000334268.4_Intron|RP11-532N4.2_ENST00000427828.1_RNA|RP11-532N4.2_ENST00000418467.2_RNA	NM_001256020.1	NP_001242949.1	Q13061	TRDN_HUMAN	triadin	0					muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		AGATCTTTAAGAAAAAAAAAAG	0.386													3	6	---	---	---	---						A	123786033	-	A	123786032	7	5	258	1	0	1	1	0	0	0	0	0	16529	957	33	0		0	TRDN	6	123786032	Frame_Shift_Ins	INS	-	TCGA-QU-A6IM-01A-11D-A31L-08	29719538	123786032	47329035	34	13507											
TAAR9	134860	broad.mit.edu	37	chr6	132860433	132860433	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggtcttaaggactgattcGtcaacaactaatttattttc	13	15	6	7	1	2	1	1	1	1	0	4	2	2	2	0	2	2	0	0	2	6	7			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr6:132860433G>A	ENST00000434551.1	+	0	1005					NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN	trace amine associated receptor 9 (gene/pseudogene)							plasma membrane	G-protein coupled receptor activity					Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		GGACTGATTCGTCAACAACTA	0.328													7	19					0	0	1	0	0	A	132860433	G	A	132860433	1	1	258	0	1	0	0	0	0	0	0	0	15551	1132	40	1		1	TAAR9	6	132860433	RNA	SNP	G	TCGA-QU-A6IM-01A-11D-A31L-08	9074401	132860433	38254634	35	13508											
TRA2A	29896	broad.mit.edu	37	chr7	23556149	23556149	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgtctccttgacctcgaccTttgagagaaatacatttagg	11	13	8	9	1	1	3	0	2	1	1	3	5	1	3	3	1	1	0	3	1	3	5			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr7:23556149T>A	ENST00000297071.4	-	3	387		c.e3-2		TRA2A_ENST00000474586.1_Splice_Site|TRA2A_ENST00000392502.4_Splice_Site|TRA2A_ENST00000538367.1_Splice_Site	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)						nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						GACCTCGACCTTTGAGAGAAA	0.408													30	28					0	0	1	0	0	A	23556149	T	A	23556149	5	1	258	1	0	0	0	0	0	0	1	0	16494	1623	56	5	703	5	TRA2A	7	23556149	Splice_Site	SNP	T	TCGA-QU-A6IM-01A-11D-A31L-08		23556149	135582514	36	13509											
MUC17	140453	broad.mit.edu	37	chr7	100681549	100681549	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acgactccattaacaagtatAcctgtcagccacacgctggt	12	9	7	13	2	1	0	1	0	0	0	2	1	2	0	3	1	3	2	3	1	4	3			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr7:100681549A>G	ENST00000306151.4	+	3	6916	c.6852A>G	c.(6850-6852)atA>atG	p.I2284M		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2284	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TAACAAGTATACCTGTCAGCC	0.463													160	402					0	0	1	0	0	G	100681549	A	G	100681549	3	3	258	1	0	0	0	0	1	0	0	0	10022	381	14	3	6862	3	MUC17	7	100681549	Missense_Mutation	SNP	A	TCGA-QU-A6IM-01A-11D-A31L-08	77125400	100681549	58457114	37	13510											
NRG1	3084	broad.mit.edu	37	chr8	32599590	32599590	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgaaagtccaaaaccaaGaaagtatgtcaaaataatct	20	8	5	8	0	2	2	1	1	1	1	3	2	3	2	3	0	1	1	3	0	9	2			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr8:32599590G>T	ENST00000341377.5	+	7	1214	c.697G>T	c.(697-699)Gaa>Taa	p.E233*	NRG1_ENST00000356819.4_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000521670.1_Nonsense_Mutation_p.E233*|NRG1_ENST00000338921.4_Nonsense_Mutation_p.E233*|NRG1_ENST00000520407.1_Intron|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000539990.1_Intron|NRG1_ENST00000287840.5_Nonsense_Mutation_p.E233*|NRG1_ENST00000520502.2_Intron|NRG1_ENST00000523079.1_Intron|NRG1_ENST00000405005.2_Nonsense_Mutation_p.E233*			Q02297	NRG1_HUMAN	neuregulin 1	233					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CCAAAACCAAGAAAGTATGTC	0.398													16	29					1.5739e-10	1.69614e-10	1	1	0	T	32599590	G	T	32599590	4	4	258	1	0	0	0	0	0	1	0	0	10695	943	33	4	2193	4	NRG1	8	32599590	Nonsense_Mutation	SNP	G	TCGA-QU-A6IM-01A-11D-A31L-08		32599590	113764432	38	13511											
ZHX1	11244	broad.mit.edu	37	chr8	124266782	124266782	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttgctcttttgtcttttttgCccgaatgccaaatgaatcag	8	17	7	9	1	3	1	1	1	2	0	3	2	3	1	2	0	3	1	2	0	3	6			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr8:124266782C>T	ENST00000395571.3	-	3	2022	c.1405G>A	c.(1405-1407)Gca>Aca	p.A469T	ZHX1_ENST00000297857.2_Missense_Mutation_p.A469T|ZHX1_ENST00000522655.1_Missense_Mutation_p.A469T|ZHX1-C8ORF76_ENST00000357082.4_Intron	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	469	Required for interaction with NFYA.				negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			GTCTTTTTTGCCCGAATGCCA	0.388													4	155					0	0	1	0	0	T	124266782	C	T	124266782	3	4	258	1	0	0	0	0	1	0	0	0	17733	739	26	2	1220	2	ZHX1	8	124266782	Missense_Mutation	SNP	C	TCGA-QU-A6IM-01A-11D-A31L-08	91667192	124266782	22097240	39	13512											
IARS	3376	broad.mit.edu	37	chr9	95043126	95043126	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcaactaaagatacagttTcatcttcttccaaagggaaa	17	10	6	8	0	3	1	1	0	2	1	4	2	4	2	1	1	3	2	1	1	7	5			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr9:95043126T>C	ENST00000375643.3	-	7	913	c.647A>G	c.(646-648)gAa>gGa	p.E216G	IARS_ENST00000375629.3_5'UTR|IARS_ENST00000447699.2_Missense_Mutation_p.E106G|IARS_ENST00000443024.2_Missense_Mutation_p.E216G	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	216					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	AGATACAGTTTCATCTTCTTC	0.353													10	25					0	0	1	0	0	C	95043126	T	C	95043126	3	2	258	1	0	0	0	0	1	0	0	0	7517	1783	62	3	3253	3	IARS	9	95043126	Missense_Mutation	SNP	T	TCGA-QU-A6IM-01A-11D-A31L-08		95043126	46170305	40	13513											
ZNF462	58499	broad.mit.edu	37	chr9	109691723	109691723	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctcaggaaatcgagtggCtcccattccgctgcatcaaa	12	8	9	12	2	2	0	2	0	0	0	5	2	4	1	2	2	2	4	2	2	3	1			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr9:109691723C>G	ENST00000277225.5	+	3	5819	c.5530C>G	c.(5530-5532)Ctc>Gtc	p.L1844V	ZNF462_ENST00000441147.2_Missense_Mutation_p.L689V|ZNF462_ENST00000457913.1_Missense_Mutation_p.L1844V			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1844					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AATCGAGTGGCTCCCATTCCG	0.522													33	58					0	0	1	0	0	G	109691723	C	G	109691723	3	3	258	1	0	0	0	0	1	0	0	0	17983	797	28	4	5536	4	ZNF462	9	109691723	Missense_Mutation	SNP	C	TCGA-QU-A6IM-01A-11D-A31L-08	14648597	109691723	31521708	41	13514											
TRUB2	26995	broad.mit.edu	37	chr9	131071863	131071863	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccctctccagccccaaggtaGagctcgggccctgggagtcc	6	6	12	17	1	1	1	0	0	1	1	4	2	2	2	6	3	2	2	6	3	2	1			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr9:131071863G>C	ENST00000372890.4	-	8	1295	c.962C>G	c.(961-963)tCt>tGt	p.S321C	TRUB2_ENST00000546104.1_Missense_Mutation_p.S265C	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase family member 2	321					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						CCCCAAGGTAGAGCTCGGGCC	0.622													26	69					0	0	1	0	0	C	131071863	G	C	131071863	3	2	258	1	0	0	0	0	1	0	0	0	16664	942	33	4	37	4	TRUB2	9	131071863	Missense_Mutation	SNP	G	TCGA-QU-A6IM-01A-11D-A31L-08	21380140	131071863	10141568	42	13515											
GPR107	0	broad.mit.edu	37	chr9	132854651	132854651	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catctggattcatatccttcGaaaacgacggtaaactattt	13	13	6	9	3	2	0	1	0	1	0	4	3	3	1	1	2	2	1	1	2	6	6			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr9:132854651G>A	ENST00000372406.1	+	9	1361	c.854G>A	c.(853-855)cGa>cAa	p.R285Q	GPR107_ENST00000347136.6_Missense_Mutation_p.R285Q|GPR107_ENST00000372410.3_Missense_Mutation_p.R285Q	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107	285						integral to membrane				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				CATATCCTTCGAAAACGACGG	0.423													5	84					0	0	1	0	0	A	132854651	G	A	132854651	3	1	258	1	0	0	0	0	1	0	0	0	6663	1058	37	1	888	1	GPR107	9	132854651	Missense_Mutation	SNP	G	TCGA-QU-A6IM-01A-11D-A31L-08	1782788	132854651	8358780	43	13516											
ZEB1	6935	broad.mit.edu	37	chr10	31809478	31809478	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttggtttggtgtctcccatAagtatcaatttaagtgatat	10	17	9	5	0	2	1	1	1	1	0	3	1	2	1	1	2	0	3	1	2	5	7			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr10:31809478A>G	ENST00000446923.2	+	7	1558	c.1167A>G	c.(1165-1167)atA>atG	p.I389M	ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000361642.5_Missense_Mutation_p.I406M|ZEB1_ENST00000542815.3_Missense_Mutation_p.I338M|ZEB1_ENST00000560721.2_Missense_Mutation_p.I385M|ZEB1_ENST00000320985.10_Missense_Mutation_p.I405M	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	405					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				TGTCTCCCATAAGTATCAATT	0.438													20	53					0	0	1	0	0	G	31809478	A	G	31809478	3	3	258	1	0	0	0	0	1	0	0	0	17681	352	13	3	1255	3	ZEB1	10	31809478	Missense_Mutation	SNP	A	TCGA-QU-A6IM-01A-11D-A31L-08		31809478	103725269	44	13517											
A1CF	29974	broad.mit.edu	37	chr10	52595854	52595854	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtagcagtttcctcctcGccatggcagctgctcgatga	6	11	11	13	2	0	1	0	1	0	0	4	2	2	1	3	2	3	6	3	2	1	2			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr10:52595854G>A	ENST00000395489.2	-	8	959	c.563C>T	c.(562-564)gCg>gTg	p.A188V	A1CF_ENST00000373993.1_Missense_Mutation_p.A195V|A1CF_ENST00000374001.1_Missense_Mutation_p.A195V|A1CF_ENST00000373997.3_Missense_Mutation_p.A195V|A1CF_ENST00000395495.1_Missense_Mutation_p.A195V|A1CF_ENST00000282641.2_Missense_Mutation_p.A195V|A1CF_ENST00000373995.3_Missense_Mutation_p.A203V	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	195	RRM 2.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	p.A203V(2)|p.A195V(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TTTCCTCCTCGCCATGGCAGC	0.488													22	66					0	0	1	0	0	A	52595854	G	A	52595854	3	1	258	1	0	0	0	0	1	0	0	0	2	1087	38	1	1232	1	A1CF	10	52595854	Missense_Mutation	SNP	G	TCGA-QU-A6IM-01A-11D-A31L-08	20786376	52595854	82938893	45	13518											
ZNF365	22891	broad.mit.edu	37	chr10	64403689	64403689	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatcatcctttaattaatgTctgcgctgggtcagataacc	10	13	8	10	1	3	1	2	0	1	1	4	1	4	1	2	1	2	2	2	1	3	4			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr10:64403689T>A	ENST00000395251.1	+	2	338	c.4T>A	c.(4-6)Tct>Act	p.S2T	ZNF365_ENST00000395249.1_Missense_Mutation_p.S2T|ZNF365_ENST00000410046.3_Intron	NM_199452.3	NP_955524.3	Q70YC4	TALAN_HUMAN	zinc finger protein 365	2										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					TTAATTAATGTCTGCGCTGGG	0.453													14	75					0	0	1	0	0	A	64403689	T	A	64403689	3	1	258	1	0	0	0	0	1	0	0	0	17926	1667	58	5	1484	5	ZNF365	10	64403689	Missense_Mutation	SNP	T	TCGA-QU-A6IM-01A-11D-A31L-08	11807835	64403689	71131058	46	13519											
GRID1	2894	broad.mit.edu	37	chr10	87484336	87484336	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctcctcgggcttcttaattAgaatccccactgaatagtcc	9	13	6	13	1	2	2	0	1	2	1	6	2	4	2	4	1	0	1	4	1	5	4			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr10:87484336A>T	ENST00000327946.7	-	11	1716	c.1631T>A	c.(1630-1632)cTa>cAa	p.L544Q	GRID1_ENST00000536331.1_Missense_Mutation_p.L115Q	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	544						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	CTTCTTAATTAGAATCCCCAC	0.522										Multiple Myeloma(13;0.14)			32	44					0	0	1	0	0	T	87484336	A	T	87484336	3	4	258	1	0	0	0	0	1	0	0	0	6812	420	15	5	1422	5	GRID1	10	87484336	Missense_Mutation	SNP	A	TCGA-QU-A6IM-01A-11D-A31L-08	23080647	87484336	48050411	47	13520											
MYOF	26509	broad.mit.edu	37	chr10	95070306	95070306	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcactttggtaagtccagcTtggggttcatgttgggttcg	5	15	13	8	1	2	0	2	0	0	0	4	0	3	0	1	4	1	5	1	4	1	6			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr10:95070306T>A	ENST00000371501.4	-	52	6106	c.5984A>T	c.(5983-5985)aAg>aTg	p.K1995M	MYOF_ENST00000358334.5_Missense_Mutation_p.K1982M|MYOF_ENST00000371502.4_Missense_Mutation_p.K1985M|MYOF_ENST00000359263.4_Missense_Mutation_p.K1995M			Q9NZM1	MYOF_HUMAN	myoferlin	1995					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TAAGTCCAGCTTGGGGTTCAT	0.562													19	56					0	0	1	0	0	A	95070306	T	A	95070306	3	1	258	1	0	0	0	0	1	0	0	0	10137	1609	56	5	213	5	MYOF	10	95070306	Missense_Mutation	SNP	T	TCGA-QU-A6IM-01A-11D-A31L-08	7585970	95070306	40464441	48	13521											
CYP2C8	1558	broad.mit.edu	37	chr10	96802756	96802756	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgtgcactacagcatcagtgTaaggcatgtggctcctatcc	9	10	10	12	1	1	0	1	0	0	0	3	0	3	0	2	2	3	5	2	2	3	3			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr10:96802756T>C	ENST00000371270.3	-	7	1134	c.1040A>G	c.(1039-1041)tAc>tGc	p.Y347C	CYP2C8_ENST00000539050.1_Missense_Mutation_p.Y261C|CYP2C8_ENST00000535898.1_Missense_Mutation_p.Y245C	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	347					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	AGCATCAGTGTAAGGCATGTG	0.498													31	79					0	0	1	0	0	C	96802756	T	C	96802756	3	2	258	1	0	0	0	0	1	0	0	0	4190	1638	57	3	444	3	CYP2C8	10	96802756	Missense_Mutation	SNP	T	TCGA-QU-A6IM-01A-11D-A31L-08	1732450	96802756	38731991	49	13522											
FGFR2	2263	broad.mit.edu	37	chr10	123256220	123256220	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctttagaggcatactcaacTatgacatagagaggccctgt	12	10	9	10	0	1	3	1	1	0	2	1	4	1	3	2	2	2	1	2	2	5	5			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr10:123256220T>C	ENST00000358487.5	-	13	1961	c.1689A>G	c.(1687-1689)atA>atG	p.I563M	FGFR2_ENST00000360144.3_Missense_Mutation_p.I475M|FGFR2_ENST00000346997.2_Missense_Mutation_p.I561M|FGFR2_ENST00000369061.4_Missense_Mutation_p.I451M|FGFR2_ENST00000351936.6_Missense_Mutation_p.I561M|FGFR2_ENST00000369056.1_Missense_Mutation_p.I564M|FGFR2_ENST00000369059.1_Missense_Mutation_p.I449M|FGFR2_ENST00000478859.1_Missense_Mutation_p.I335M|FGFR2_ENST00000369060.4_Missense_Mutation_p.I447M|FGFR2_ENST00000356226.4_Missense_Mutation_p.I446M|FGFR2_ENST00000457416.2_Missense_Mutation_p.I564M|FGFR2_ENST00000357555.5_Missense_Mutation_p.I474M	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	563	Protein kinase.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	CATACTCAACTATGACATAGA	0.498		5	Mis		"gastric. NSCLC, endometrial"		"Crouzon, Pfeiffer, and Apert syndromes"		Saethre-Chotzen syndrome;Apert syndrome				27	71					0	0	1	0	0	C	123256220	T	C	123256220	3	2	258	1	0	0	0	0	1	0	0	0	5899	1512	53	3	904	3	FGFR2	10	123256220	Missense_Mutation	SNP	T	TCGA-QU-A6IM-01A-11D-A31L-08	26453464	123256220	12278527	50	13523											
KNDC1	85442	broad.mit.edu	37	chr10	135024207	135024207	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgcacttcctcctcgaccGcatcaacagcacgctgacca	9	7	6	19	3	1	1	1	1	0	0	4	2	3	1	5	0	3	4	5	0	1	1			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr10:135024207G>A	ENST00000304613.3	+	21	3908	c.3887G>A	c.(3886-3888)cGc>cAc	p.R1296H	KNDC1_ENST00000368572.2_Missense_Mutation_p.R1298H			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1296	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			p.R1296H(1)		NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CTCCTCGACCGCATCAACAGC	0.622													4	185					0	0	1	0	0	A	135024207	G	A	135024207	3	1	258	1	0	0	0	0	1	0	0	0	8469	1087	38	1	3969	1	KNDC1	10	135024207	Missense_Mutation	SNP	G	TCGA-QU-A6IM-01A-11D-A31L-08	11767987	135024207	510540	51	13524											
FGF23	8074	broad.mit.edu	37	chr12	4479847	4479847	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggaaggctctcttcgcccGgcccagactgaccaggaagt	9	6	12	14	2	1	2	0	1	1	1	3	4	1	4	3	4	0	1	3	4	2	1			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr12:4479847G>A	ENST00000237837.1	-	3	563	c.418C>T	c.(418-420)Cgg>Tgg	p.R140W		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	140					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity	p.R140W(1)		NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			CTCTTCGCCCGGCCCAGACTG	0.577													50	153					0	0	1	0	0	A	4479847	G	A	4479847	3	1	258	1	0	0	0	0	1	0	0	0	5885	1115	39	1	341	1	FGF23	12	4479847	Missense_Mutation	SNP	G	TCGA-QU-A6IM-01A-11D-A31L-08		4479847	129372048	52	13525											
A2ML1	144568	broad.mit.edu	37	chr12	9013852	9013852	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggggaaatggacatcagaaAcattctccttaaacagttag	15	10	9	7	0	2	1	1	0	1	1	3	3	2	3	1	3	2	1	1	3	5	3			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr12:9013852A>C	ENST00000299698.7	+	28	3641	c.3461A>C	c.(3460-3462)aAc>aCc	p.N1154T	A2ML1_ENST00000539547.1_Missense_Mutation_p.N663T	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	998						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						GACATCAGAAACATTCTCCTT	0.448													25	92					0	0	1	0	0	C	9013852	A	C	9013852	3	2	258	1	0	0	0	0	1	0	0	0	5	43	2	5	3571	5	A2ML1	12	9013852	Missense_Mutation	SNP	A	TCGA-QU-A6IM-01A-11D-A31L-08	4534005	9013852	124838043	53	13526											
CCT2	10576	broad.mit.edu	37	chr12	69985925	69985925	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgcaaatactggtatggatAcagacaaaataaaggtatgt	17	11	9	4	0	0	1	0	0	0	1	0	2	0	2	0	3	3	3	0	3	9	6			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr12:69985925A>T	ENST00000543146.2	+	8	1077	c.595A>T	c.(595-597)Aca>Tca	p.T199S	CCT2_ENST00000544368.2_Missense_Mutation_p.T246S|CCT2_ENST00000299300.6_Missense_Mutation_p.T246S	NM_001198842.1	NP_001185771.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	246					'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TGGTATGGATACAGACAAAAT	0.333													24	45					0	0	1	0	0	T	69985925	A	T	69985925	3	4	258	1	0	0	0	0	1	0	0	0	2975	391	14	5	766	5	CCT2	12	69985925	Missense_Mutation	SNP	A	TCGA-QU-A6IM-01A-11D-A31L-08	60972073	69985925	63865970	54	13527											
ATXN2	6311	broad.mit.edu	37	chr12	111954061	111954061	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgaggggggcctggagggCggccgtgtaggggtggctgc	3	5	24	9	4	0	0	0	0	0	0	0	2	0	1	2	9	1	2	2	9	1	1			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr12:111954061C>A	ENST00000377617.3	-	10	1913	c.1752G>T	c.(1750-1752)ccG>ccT	p.P584P	ATXN2_ENST00000550104.1_Silent_p.P584P|ATXN2_ENST00000389153.4_Silent_p.P319P|ATXN2_ENST00000542287.2_Silent_p.P319P|ATXN2_ENST00000535949.1_Silent_p.P295P	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	584	Pro-rich.				cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						GCCTGGAGGGCGGCCGTGTAG	0.637													8	26					0.00448238	0.00460689	1	1	0	A	111954061	C	A	111954061	2	1	258	1	0	0	0	0	0	0	0	1	1209	755	27	4		4	ATXN2	12	111954061	Silent	SNP	C	TCGA-QU-A6IM-01A-11D-A31L-08	41968136	111954061	21897834	55	13528											
NID2	22795	broad.mit.edu	37	chr14	52520476	52520476	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtagggctggatgcttccgTtttcggggtacggtggtggg	3	12	20	6	3	0	0	0	0	0	0	2	1	1	1	1	8	2	5	1	8	2	5			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr14:52520476T>C	ENST00000216286.5	-	5	1249	c.1250A>G	c.(1249-1251)aAc>aGc	p.N417S	NID2_ENST00000541773.1_Missense_Mutation_p.N364S	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	417						basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GATGCTTCCGTTTTCGGGGTA	0.557													31	83					0	0	1	0	0	C	52520476	T	C	52520476	3	2	258	1	0	0	0	0	1	0	0	0	10462	1725	60	3	2949	3	NID2	14	52520476	Missense_Mutation	SNP	T	TCGA-QU-A6IM-01A-11D-A31L-08		52520476	54829064	56	13529											
OR1G1	8390	broad.mit.edu	37	chr17	3030696	3030696	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtatggagttgagtgtcagtAatgatgactagaatgatgag	13	12	14	2	0	1	6	1	5	0	1	1	7	1	7	0	1	0	3	0	1	4	4			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr17:3030696A>T	ENST00000328890.2	-	1	179	c.150T>A	c.(148-150)atT>atA	p.I50I		NM_003555.1	NP_003546.1	P47890	OR1G1_HUMAN	olfactory receptor, family 1, subfamily G, member 1	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						GAGTGTCAGTAATGATGACTA	0.517													35	98					0	0	1	0	0	T	3030696	A	T	3030696	2	4	258	1	0	0	0	0	0	0	0	1	11005	358	13	5		5	OR1G1	17	3030696	Silent	SNP	A	TCGA-QU-A6IM-01A-11D-A31L-08		3030696	78164514	57	13530											
DERL2	51009	broad.mit.edu	37	chr17	5383387	5383387	+	Frame_Shift_Del	DEL	T	T	-																															tactcacaaaatagatggtgTtttcagaattcttattccac																										TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr17:5383387delT	ENST00000158771.4	-	6	656	c.601delA	c.(601-603)cafs	p.T201fs	DERL2_ENST00000570848.1_3'UTR|DERL2_ENST00000572834.1_3'UTR	NM_016041.3	NP_057125.2	Q9GZP9	DERL2_HUMAN	derlin 2	201					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of cell growth|positive regulation of cell proliferation|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	protein binding			large_intestine(3)	3						ATAGATGGTGTTTTCAGAATT	0.398													28	80	---	---	---	---						-	5383387	T	-	5383387	7	5	258	1	0	1	0	1	0	0	0	0	4475	1725	60	0	126	0	DERL2	17	5383387	Frame_Shift_Del	DEL	T	TCGA-QU-A6IM-01A-11D-A31L-08	2352691	5383387	75811823	58	13531											
TEKT3	64518	broad.mit.edu	37	chr17	15234581	15234581	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcgggaagtgttggactcttGatagttggttaaattggacc	9	14	13	5	1	1	1	0	1	1	0	2	4	1	4	1	4	0	3	1	4	4	6			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr17:15234581G>C	ENST00000395930.1	-	3	508	c.322C>G	c.(322-324)Caa>Gaa	p.Q108E	TEKT3_ENST00000338696.2_Missense_Mutation_p.Q108E	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	108					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		TTGGACTCTTGATAGTTGGTT	0.423													17	162					0	0	1	0	0	C	15234581	G	C	15234581	3	2	258	1	0	0	0	0	1	0	0	0	15813	1299	45	4	1178	4	TEKT3	17	15234581	Missense_Mutation	SNP	G	TCGA-QU-A6IM-01A-11D-A31L-08	9851194	15234581	65960629	59	13532											
NT5M	56953	broad.mit.edu	37	chr17	17250218	17250218	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcaggctgcactcgtgggCggacgactggaaggccattc	7	6	15	13	4	0	0	0	0	0	0	2	3	0	2	2	5	1	3	2	5	1	1			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr17:17250218C>T	ENST00000389022.4	+	5	860	c.644C>T	c.(643-645)gCg>gTg	p.A215V	NT5M_ENST00000582909.1_3'UTR	NM_020201.3	NP_064586.1	Q9NPB1	NT5M_HUMAN	5',3'-nucleotidase, mitochondrial	215					DNA replication|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	5'-nucleotidase activity|metal ion binding|nucleotide binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						CACTCGTGGGCGGACGACTGG	0.692													24	57					0	0	1	0	0	T	17250218	C	T	17250218	3	4	258	1	0	0	0	0	1	0	0	0	10742	768	27	1	662	1	NT5M	17	17250218	Missense_Mutation	SNP	C	TCGA-QU-A6IM-01A-11D-A31L-08	2015637	17250218	63944992	60	13533											
SPOP	8405	broad.mit.edu	37	chr17	47696644	47696644	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attcaggatggagaatttgaAttttgcccgaacttcactct	11	14	8	8	1	3	2	2	1	1	1	3	5	3	3	1	2	2	0	1	2	3	5			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr17:47696644A>C	ENST00000393331.3	-	6	774	c.304T>G	c.(304-306)Ttc>Gtc	p.F102V	SPOP_ENST00000347630.2_Missense_Mutation_p.F102V|SPOP_ENST00000503676.1_Missense_Mutation_p.F102V|SPOP_ENST00000393328.2_Missense_Mutation_p.F102V|SPOP_ENST00000504102.1_Missense_Mutation_p.F102V	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	102	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						GAGAATTTGAATTTTGCCCGA	0.408										Prostate(2;0.17)			30	37					0	0	1	0	0	C	47696644	A	C	47696644	3	2	258	1	0	0	0	0	1	0	0	0	15140	101	4	5	848	5	SPOP	17	47696644	Missense_Mutation	SNP	A	TCGA-QU-A6IM-01A-11D-A31L-08	30446426	47696644	33498566	61	13534											
DNAH17	8632	broad.mit.edu	37	chr17	76497832	76497832	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcgctcatgccttggccaCgatcattttggccaccacgt	6	10	11	14	3	2	0	2	0	0	0	2	1	2	0	4	3	1	1	4	3	0	3			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr17:76497832C>T	ENST00000585328.1	-	34	5429	c.5305G>A	c.(5305-5307)Gtg>Atg	p.V1769M	DNAH17_ENST00000389840.5_Splice_Site|DNAH17-AS1_ENST00000598378.1_3'UTR	NM_173628.3	NP_775899.3			dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GCCTTGGCCACGATCATTTTG	0.617													4	143					0	0	1	0	0	T	76497832	C	T	76497832	3	4	258	1	0	0	0	0	1	0	0	0	4629	536	19	1	8266	1	DNAH17	17	76497832	Missense_Mutation	SNP	C	TCGA-QU-A6IM-01A-11D-A31L-08	28801188	76497832	4697378	62	13535											
CPLX4	339302	broad.mit.edu	37	chr18	56985676	56985676	+	Frame_Shift_Del	DEL	T	T	-																															tacctggttacttatcatacTtttcataaggaaagccattt																										TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr18:56985676delT	ENST00000299721.3	-	1	205	c.19delA	c.(19-21)gtfs	p.S7fs	CPLX4_ENST00000587244.1_Frame_Shift_Del_p.S7fs	NM_181654.3	NP_857637.1	Q7Z7G2	CPLX4_HUMAN	complexin 4	7					exocytosis|neurotransmitter transport	cell junction|synapse	syntaxin binding			autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	16		Colorectal(73;0.175)				CTTATCATACTTTTCATAAGG	0.378													14	34	---	---	---	---						-	56985676	T	-	56985676	7	5	258	1	0	1	0	1	0	0	0	0	3830	1609	56	0	475	0	CPLX4	18	56985676	Frame_Shift_Del	DEL	T	TCGA-QU-A6IM-01A-11D-A31L-08		56985676	21091572	63	13536											
NFATC1	4772	broad.mit.edu	37	chr18	77208864	77208864	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgcctgctgcgcccgcacgCcttctaccaggtgcaccgca	5	6	10	20	5	1	0	0	0	1	0	1	0	1	0	6	1	4	4	6	1	1	2			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr18:77208864C>G	ENST00000253506.5	+	4	1838	c.1469C>G	c.(1468-1470)gCc>gGc	p.A490G	NFATC1_ENST00000587635.1_Missense_Mutation_p.A490G|NFATC1_ENST00000329101.4_Missense_Mutation_p.A477G|NFATC1_ENST00000591814.1_Missense_Mutation_p.A490G|NFATC1_ENST00000592223.1_Missense_Mutation_p.A477G|NFATC1_ENST00000586434.1_Missense_Mutation_p.A477G|NFATC1_ENST00000542384.1_Missense_Mutation_p.A490G|NFATC1_ENST00000545796.1_Missense_Mutation_p.A18G|NFATC1_ENST00000397790.2_Missense_Mutation_p.A18G|NFATC1_ENST00000318065.5_Missense_Mutation_p.A477G|NFATC1_ENST00000427363.2_Missense_Mutation_p.A490G	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	490	RHD.				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CGCCCGCACGCCTTCTACCAG	0.612													31	63					0	0	1	0	0	G	77208864	C	G	77208864	3	3	258	1	0	0	0	0	1	0	0	0	10408	739	26	4	1575	4	NFATC1	18	77208864	Missense_Mutation	SNP	C	TCGA-QU-A6IM-01A-11D-A31L-08	20223188	77208864	868384	64	13537											
CYP4F12	66002	broad.mit.edu	37	chr19	15791307	15791307	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcctatataacgatcttcaAcaagagtgcaaacatcatgc	15	10	6	10	1	3	1	2	0	1	1	4	2	4	1	1	0	5	1	1	0	6	4			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr19:15791307A>C	ENST00000550308.1	+	5	883	c.503A>C	c.(502-504)aAc>aCc	p.N168T	CYP4F12_ENST00000324632.9_Missense_Mutation_p.N168T	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					ACGATCTTCAACAAGAGTGCA	0.532													12	38					0	0	1	0	0	C	15791307	A	C	15791307	3	2	258	1	0	0	0	0	1	0	0	0	4210	43	2	5	517	5	CYP4F12	19	15791307	Missense_Mutation	SNP	A	TCGA-QU-A6IM-01A-11D-A31L-08		15791307	43337676	65	13538											
ZNF98	148198	broad.mit.edu	37	chr19	22575729	22575729	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcagtatcactttttggaaaTaattttttttgccctgcttt	8	21	5	7	0	2	0	2	0	0	0	2	1	2	1	1	1	2	2	1	1	3	9			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr19:22575729T>A	ENST00000357774.5	-	4	429	c.308A>T	c.(307-309)tAt>tTt	p.Y103F		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	103					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				TTTTTGGAAATAATTTTTTTT	0.303													6	21					0	0	1	0	0	A	22575729	T	A	22575729	3	1	258	1	0	0	0	0	1	0	0	0	18245	1406	49	5	1414	5	ZNF98	19	22575729	Missense_Mutation	SNP	T	TCGA-QU-A6IM-01A-11D-A31L-08	6784422	22575729	36553254	66	13539											
SIPA1L3	23094	broad.mit.edu	37	chr19	38684211	38684211	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggcctgcagcggacgctgtCggacgagagcctgtgcagcg	6	5	18	12	5	0	1	0	0	0	1	1	4	0	3	2	3	5	3	2	3	0	0			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr19:38684211C>T	ENST00000222345.6	+	18	5140	c.4631C>T	c.(4630-4632)tCg>tTg	p.S1544L		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1544					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CGGACGCTGTCGGACGAGAGC	0.697													4	12					0	0	1	0	0	T	38684211	C	T	38684211	3	4	258	1	0	0	0	0	1	0	0	0	14386	893	31	1	4693	1	SIPA1L3	19	38684211	Missense_Mutation	SNP	C	TCGA-QU-A6IM-01A-11D-A31L-08	16108482	38684211	20444772	67	13540											
RPS11	6205	broad.mit.edu	37	chr19	50000530	50000530	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggagaaactggcaaggagaAgctcccgcggtactacaaga	14	4	14	9	2	0	3	0	0	0	3	1	5	1	3	1	4	4	3	1	4	6	2			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr19:50000530A>C	ENST00000270625.2	+	2	178	c.95A>C	c.(94-96)aAg>aCg	p.K32T	RPS11_ENST00000599561.1_Missense_Mutation_p.K32T|RPS11_ENST00000594493.1_5'UTR|RPS11_ENST00000596873.1_Missense_Mutation_p.K32T	NM_001015.4	NP_001006.1	P62280	RS11_HUMAN	ribosomal protein S11	32					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|rRNA binding|structural constituent of ribosome			kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	7		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00206)|GBM - Glioblastoma multiforme(486;0.0245)		GGCAAGGAGAAGCTCCCGCGG	0.532													16	63					0	0	1	0	0	C	50000530	A	C	50000530	3	2	258	1	0	0	0	0	1	0	0	0	13673	72	3	5	101	5	RPS11	19	50000530	Missense_Mutation	SNP	A	TCGA-QU-A6IM-01A-11D-A31L-08	11316319	50000530	9128453	68	13541											
ZNF470	388566	broad.mit.edu	37	chr19	57089490	57089490	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcatactggtgagaagcctTacgaatgtattgaatgtggg	11	13	12	5	1	1	2	1	2	0	1	1	4	1	2	1	2	3	1	1	2	6	5			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr19:57089490T>G	ENST00000330619.8	+	6	2379	c.1693T>G	c.(1693-1695)Tac>Gac	p.Y565D	ZNF470_ENST00000391709.3_Missense_Mutation_p.Y565D|ZNF470_ENST00000601902.1_Intron	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	565					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		TGAGAAGCCTTACGAATGTAT	0.443													17	53					0	0	1	0	0	G	57089490	T	G	57089490	3	3	258	1	0	0	0	0	1	0	0	0	17986	1754	61	5	1707	5	ZNF470	19	57089490	Missense_Mutation	SNP	T	TCGA-QU-A6IM-01A-11D-A31L-08	7088960	57089490	2039493	69	13542											
WFDC6	140870	broad.mit.edu	37	chr20	44167963	44167963	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcccaatacttactgccaagGatgccttcagcgtgcccagg	9	9	9	14	1	1	0	1	0	0	0	2	1	2	1	4	2	6	0	4	2	4	3			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr20:44167963G>A	ENST00000600168.1	-	1	171	c.84C>T	c.(82-84)atC>atT	p.I28I	WFDC6_ENST00000372670.3_Silent_p.I28I|EPPIN_ENST00000555685.1_Intron|EPPIN-WFDC6_ENST00000504988.1_Intron					WAP four-disulfide core domain 6											breast(1)|kidney(1)|large_intestine(2)|lung(2)	6		Myeloproliferative disorder(115;0.0122)				TACTGCCAAGGATGCCTTCAG	0.478													6	63					0	0	1	0	0	A	44167963	G	A	44167963	2	1	258	1	0	0	0	0	0	0	0	1	17415	1164	41	2		2	WFDC6	20	44167963	Silent	SNP	G	TCGA-QU-A6IM-01A-11D-A31L-08		44167963	18857557	70	13543											
CXADR	1525	broad.mit.edu	37	chr21	18924261	18924261	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaaataagaagattcatctGgtagttcttggtaagttatt	13	15	9	4	0	3	2	1	0	2	2	3	2	3	2	0	2	0	5	0	2	6	8			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr21:18924261G>T	ENST00000284878.7	+	3	1153	c.405G>T	c.(403-405)ctG>ctT	p.L135L	CXADR_ENST00000400166.1_Silent_p.L135L|CXADR_ENST00000306618.10_Silent_p.L135L|CXADR_ENST00000356275.6_Intron|CXADR_ENST00000400165.1_Silent_p.L135L|CXADR_ENST00000400169.1_Silent_p.L135L	NM_001338.4	NP_001329.1	P78310	CXAR_HUMAN	coxsackie virus and adenovirus receptor	135					blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response	adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction	receptor activity			endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11				Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)		AGATTCATCTGGTAGTTCTTG	0.333													3	40					0.115264	0.116312	1	1	0	T	18924261	G	T	18924261	2	4	258	1	0	0	0	0	0	0	0	1	4099	1335	47	4		4	CXADR	21	18924261	Silent	SNP	G	TCGA-QU-A6IM-01A-11D-A31L-08		18924261	29205634	71	13544											
XKR3	150165	broad.mit.edu	37	chr22	17288741	17288741	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atccaaaattgcccccacaaTaataaagctgatggtaaatg	17	9	6	9	0	0	1	0	1	0	0	1	1	1	1	3	1	2	2	3	1	8	4			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr22:17288741T>C	ENST00000331428.5	-	2	325	c.223A>G	c.(223-225)Att>Gtt	p.I75V		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	75						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GCCCCCACAATAATAAAGCTG	0.353													28	48					0	0	1	0	0	C	17288741	T	C	17288741	3	2	258	1	0	0	0	0	1	0	0	0	17492	1406	49	3	1168	3	XKR3	22	17288741	Missense_Mutation	SNP	T	TCGA-QU-A6IM-01A-11D-A31L-08		17288741	34015825	72	13545											
MYO18B	84700	broad.mit.edu	37	chr22	26286730	26286730	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccccatctcagattgctgActtgacctctgaccttgccg	6	13	7	15	1	2	4	1	3	2	1	4	4	3	4	5	0	2	1	5	0	0	4			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr22:26286730A>T	ENST00000335473.7	+	26	4572	c.4322A>T	c.(4321-4323)gAc>gTc	p.D1441V	MYO18B_ENST00000536101.1_Missense_Mutation_p.D1441V|CTA-125H2.2_ENST00000600211.1_RNA|CTA-125H2.2_ENST00000453457.2_RNA|MYO18B_ENST00000407587.2_Missense_Mutation_p.D1442V	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1441	Tail.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CAGATTGCTGACTTGACCTCT	0.582													6	20					0	0	1	0	0	T	26286730	A	T	26286730	3	4	258	1	0	0	0	0	1	0	0	0	10114	275	10	5	4420	5	MYO18B	22	26286730	Missense_Mutation	SNP	A	TCGA-QU-A6IM-01A-11D-A31L-08	8997989	26286730	25017836	73	13546											
SLC25A17	10478	broad.mit.edu	37	chr22	41169988	41169988	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atattccgaagacttcccaaTgttctgttttctgggtttag	8	17	8	8	1	2	1	0	0	2	1	4	2	4	1	2	1	0	3	2	1	4	8			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chr22:41169988T>C	ENST00000402844.3	-	4	1463	c.483A>G	c.(481-483)acA>acG	p.T161T	SLC25A17_ENST00000491545.1_5'UTR|SLC25A17_ENST00000435456.2_Silent_p.T243T|SLC25A17_ENST00000542412.1_Silent_p.T170T|SLC25A17_ENST00000544408.1_Silent_p.T206T			O43808	PM34_HUMAN	solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17	243					fatty acid alpha-oxidation	integral to plasma membrane|mitochondrial inner membrane|peroxisomal membrane	adenine nucleotide transmembrane transporter activity|protein binding			central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1)	8						GACTTCCCAATGTTCTGTTTT	0.408													9	42					0	0	1	0	0	C	41169988	T	C	41169988	2	2	258	1	0	0	0	0	0	0	0	1	14534	1451	51	3		3	SLC25A17	22	41169988	Silent	SNP	T	TCGA-QU-A6IM-01A-11D-A31L-08	14883258	41169988	10134578	74	13547											
IL1RAPL1	11141	broad.mit.edu	37	chrX	28807502	28807502	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgattctcttatacgctacTtttactcagagtttgaaggt	9	18	7	7	1	2	3	1	2	1	1	3	3	2	3	0	1	3	2	0	1	5	8			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chrX:28807502T>A	ENST00000378993.1	+	2	715	c.42T>A	c.(40-42)acT>acA	p.T14T	IL1RAPL1_ENST00000302196.4_Silent_p.T14T	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	14					innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TATACGCTACTTTTACTCAGA	0.368													3	34					0	0	1	0	0	A	28807502	T	A	28807502	2	1	258	1	0	0	0	0	0	0	0	1	7705	1596	56	5		5	IL1RAPL1	23	28807502	Silent	SNP	T	TCGA-QU-A6IM-01A-11D-A31L-08		28807502	126463058	75	13548											
FAM47A	158724	broad.mit.edu	37	chrX	34149502	34149502	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgaggacagaatttcccAcaagggtatttaccaggctc	11	8	11	11	1	0	1	0	0	0	1	2	3	1	2	3	4	1	2	3	4	4	4			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chrX:34149502A>T	ENST00000346193.3	-	1	945	c.894T>A	c.(892-894)tgT>tgA	p.C298*		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	298										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						AGAATTTCCCACAAGGGTATT	0.592													16	5					0	0	1	0	0	T	34149502	A	T	34149502	4	4	258	1	0	0	0	0	0	1	0	0	5605	157	6	5	1485	5	FAM47A	23	34149502	Nonsense_Mutation	SNP	A	TCGA-QU-A6IM-01A-11D-A31L-08	5342000	34149502	121121058	76	13549											
HUWE1	10075	broad.mit.edu	37	chrX	53578098	53578098	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccataggggtgtctgagctgGcattctgtgctagttctcgt	5	14	13	9	1	3	1	0	1	3	0	4	1	3	1	1	3	2	4	1	3	2	4			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chrX:53578098G>A	ENST00000342160.3	-	64	9606	c.9149C>T	c.(9148-9150)gCc>gTc	p.A3050V	HUWE1_ENST00000262854.6_Missense_Mutation_p.A3050V			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3050					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						GTCTGAGCTGGCATTCTGTGC	0.552													3	42					0	0	1	0	0	A	53578098	G	A	53578098	3	1	258	1	0	0	0	0	1	0	0	0	7505	1203	42	2	4055	2	HUWE1	23	53578098	Missense_Mutation	SNP	G	TCGA-QU-A6IM-01A-11D-A31L-08	19428596	53578098	101692462	77	13550											
DDX3Y	8653	broad.mit.edu	37	chrY	15028970	15028970	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcagtcgtggacgatctaaAaggtacacactgtttcgagc	11	9	12	9	3	1	0	0	0	1	0	3	3	1	1	0	3	2	3	0	3	3	3			TCGA-QU-A6IM-01A-11D-A31L-08	TCGA-QU-A6IM-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c46bdf0-625f-4d00-ae75-b9e83d2fe3ea	84da4992-73f8-4179-bc14-13735496a930	g.chrY:15028970A>T	ENST00000336079.3	+	15	1867	c.1761A>T	c.(1759-1761)aaA>aaT	p.K587N	DDX3Y_ENST00000360160.4_Missense_Mutation_p.K587N	NM_001122665.1|NM_004660.3	NP_001116137.1|NP_004651.2	O15523	DDX3Y_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked	587						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|RNA binding			kidney(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	5						GACGATCTAAAAGGTACACAC	0.393													3	3					0	0	1	0	0	T	15028970	A	T	15028970	3	4	258	1	0	0	0	0	1	0	0	0	4382	11	1	5	1819	5	DDX3Y	24	15028970	Missense_Mutation	SNP	A	TCGA-QU-A6IM-01A-11D-A31L-08		15028970	44344596	78	13551											
WLS	79971	broad.mit.edu	37	chr1	68614298	68614298	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagccaacggcaatgggtcCgacttgcttccaataccctg	9	8	11	13	2	0	0	0	0	0	0	2	2	2	1	4	3	4	2	4	3	4	3			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr1:68614298C>T	ENST00000262348.4	-	7	1271	c.1018G>A	c.(1018-1020)Gga>Aga	p.G340R	GNG12-AS1_ENST00000413628.1_RNA|WLS_ENST00000491811.1_5'UTR|WLS_ENST00000370976.3_Missense_Mutation_p.G249R|WLS_ENST00000354777.2_Missense_Mutation_p.G338R|GNG12-AS1_ENST00000420587.1_RNA|WLS_ENST00000540432.1_Missense_Mutation_p.G340R	NM_024911.6	NP_079187.3	Q5T9L3	WLS_HUMAN	wntless Wnt ligand secretion mediator	340					multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	signal transducer activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						GCAATGGGTCCGACTTGCTTC	0.512													4	19					0	0	1	0	0	T	68614298	C	T	68614298	3	4	259	1	0	0	0	0	1	0	0	0	17436	661	23	1	757	1	WLS	1	68614298	Missense_Mutation	SNP	C	TCGA-QU-A6IN-01A-11D-A31L-08		68614298	180636323	1	13552											
COL11A1	1301	broad.mit.edu	37	chr1	103468003	103468003	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgaggtcctggattccctTgttgacctggaggcccaggc	5	10	13	13	0	0	2	0	2	0	0	2	4	2	4	5	5	0	1	5	5	0	3			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr1:103468003T>A	ENST00000358392.2	-	23	2431	c.2114A>T	c.(2113-2115)cAa>cTa	p.Q705L	COL11A1_ENST00000353414.4_Missense_Mutation_p.Q654L|COL11A1_ENST00000512756.1_Missense_Mutation_p.Q577L|COL11A1_ENST00000370096.3_Missense_Mutation_p.Q693L|COL11A1_ENST00000461720.1_5'UTR	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	693	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)		TGGATTCCCTTGTTGACCTGG	0.433													7	11					0	0	1	0	0	A	103468003	T	A	103468003	3	1	259	1	0	0	0	0	1	0	0	0	3690	1812	63	5	3522	5	COL11A1	1	103468003	Missense_Mutation	SNP	T	TCGA-QU-A6IN-01A-11D-A31L-08	34853705	103468003	145782618	2	13553											
OR2W5	0	broad.mit.edu	37	chr1	247654714	247654714	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaagaccatcacctaccaCggctgtgtggcccaactcta	11	7	9	14	1	2	2	1	0	1	2	2	3	2	2	4	2	2	1	4	2	4	2			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr1:247654714C>T	ENST00000522351.1	+	0	345							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H95H(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TCACCTACCACGGCTGTGTGG	0.557													5	68					0	0	1	0	0	T	247654714	C	T	247654714	1	4	259	0	1	0	0	0	0	0	0	0	11082	535	19	1		1	OR2W5	1	247654714	RNA	SNP	C	TCGA-QU-A6IN-01A-11D-A31L-08	144186711	247654714	1595907	3	13554											
ALMS1	7840	broad.mit.edu	37	chr2	73828485	73828485	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcaggggcagcacctggaCggtcggggctacctggcagg	6	6	18	11	2	1	0	1	0	0	0	2	1	1	1	2	8	2	4	2	8	1	1			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr2:73828485C>T	ENST00000264448.6	+	19	12144	c.12033C>T	c.(12031-12033)gaC>gaT	p.D4011D	ALMS1_ENST00000409009.1_Silent_p.D3969D|ALMS1_ENST00000464408.2_3'UTR	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	4011					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AGCACCTGGACGGTCGGGGCT	0.592													34	52					0	0	1	0	0	T	73828485	C	T	73828485	2	4	259	1	0	0	0	0	0	0	0	1	531	535	19	1		1	ALMS1	2	73828485	Silent	SNP	C	TCGA-QU-A6IN-01A-11D-A31L-08		73828485	169370888	4	13555											
PTPN4	5775	broad.mit.edu	37	chr2	120567473	120567473	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctggcagaacctacaatgTacgagcatcagagttggccc	11	8	11	11	1	1	2	1	0	0	2	1	3	1	2	2	2	5	5	2	2	4	3			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr2:120567473T>A	ENST00000263708.2	+	2	815	c.44T>A	c.(43-45)gTa>gAa	p.V15E		NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	15						cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	ACCTACAATGTACGAGCATCA	0.403													3	51					0	0	1	0	0	A	120567473	T	A	120567473	3	1	259	1	0	0	0	0	1	0	0	0	12842	1638	57	5	46	5	PTPN4	2	120567473	Missense_Mutation	SNP	T	TCGA-QU-A6IN-01A-11D-A31L-08	46738988	120567473	122631900	5	13556											
PIK3CA	5290	broad.mit.edu	37	chr3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaacaaatgaatgatgcacAtcatggtggctggacaacaa	17	7	10	7	0	1	2	1	2	0	0	1	4	1	3	0	3	3	2	0	3	5	0	rs121913279		TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			22	41					0	0	1	0	0	G	178952085	A	G	178952085	3	3	259	1	0	0	0	0	1	0	0	0	11961	217	8	3	3218	3	PIK3CA	3	178952085	Missense_Mutation	SNP	A	TCGA-QU-A6IN-01A-11D-A31L-08		178952085	19070345	6	13557											
TLR10	81793	broad.mit.edu	37	chr4	38776169	38776169	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatttaaatattggaatttcGtaggataattcgggaaaagc	16	13	9	3	2	0	0	0	0	0	0	2	3	0	3	0	3	1	1	0	3	9	8			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr4:38776169G>A	ENST00000308973.4	-	4	1648	c.1043C>T	c.(1042-1044)aCg>aTg	p.T348M	TLR10_ENST00000506111.1_Missense_Mutation_p.T348M|TLR10_ENST00000361424.2_Missense_Mutation_p.T348M|TLR10_ENST00000508334.1_Missense_Mutation_p.T348M	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	348					inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						TTGGAATTTCGTAGGATAATT	0.333													38	46					0	0	1	0	0	A	38776169	G	A	38776169	3	1	259	1	0	0	0	0	1	0	0	0	16010	1145	40	1	1396	1	TLR10	4	38776169	Missense_Mutation	SNP	G	TCGA-QU-A6IN-01A-11D-A31L-08		38776169	152378107	7	13558											
LPHN3	23284	broad.mit.edu	37	chr4	62813870	62813870	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attttggagctactccaagcGtacaatgacaggttattggt	11	13	10	7	1	0	1	0	1	0	0	1	2	1	2	1	3	4	3	1	3	5	6			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr4:62813870G>A	ENST00000512091.1	+	16	3224	c.2477G>A	c.(2476-2478)cGt>cAt	p.R826H	LPHN3_ENST00000507164.1_Missense_Mutation_p.R894H|LPHN3_ENST00000508946.1_Missense_Mutation_p.R826H|LPHN3_ENST00000514157.1_Missense_Mutation_p.R826H|LPHN3_ENST00000545650.1_Missense_Mutation_p.R826H|LPHN3_ENST00000514996.1_Missense_Mutation_p.R826H|LPHN3_ENST00000504896.1_Missense_Mutation_p.R826H|LPHN3_ENST00000507625.1_Missense_Mutation_p.R894H|LPHN3_ENST00000508693.1_Missense_Mutation_p.R894H|LPHN3_ENST00000506700.1_Missense_Mutation_p.R826H|LPHN3_ENST00000506720.1_Missense_Mutation_p.R894H|LPHN3_ENST00000509896.1_Missense_Mutation_p.R894H|LPHN3_ENST00000511324.1_Missense_Mutation_p.R894H|LPHN3_ENST00000514591.1_Missense_Mutation_p.R826H|LPHN3_ENST00000506746.1_Missense_Mutation_p.R894H			Q9HAR2	LPHN3_HUMAN	latrophilin 3	813	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	p.R826H(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TACTCCAAGCGTACAATGACA	0.383													11	13					0	0	1	0	0	A	62813870	G	A	62813870	3	1	259	1	0	0	0	0	1	0	0	0	8962	1145	40	1	2531	1	LPHN3	4	62813870	Missense_Mutation	SNP	G	TCGA-QU-A6IN-01A-11D-A31L-08	24037701	62813870	128340406	8	13559											
ATOH1	474	broad.mit.edu	37	chr4	94750559	94750559	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggggtgcagaagcagagacGgctagcagccaacgccaggg	11	3	17	10	2	0	2	0	0	0	2	0	3	0	2	2	4	5	4	2	4	3	1			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr4:94750559G>A	ENST00000306011.3	+	1	518	c.482G>A	c.(481-483)cGg>cAg	p.R161Q		NM_005172.1	NP_005163.1	Q92858	ATOH1_HUMAN	atonal homolog 1 (Drosophila)	161					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		AAGCAGAGACGGCTAGCAGCC	0.617													29	26					0	0	1	0	0	A	94750559	G	A	94750559	3	1	259	1	0	0	0	0	1	0	0	0	1111	1116	39	1	484	1	ATOH1	4	94750559	Missense_Mutation	SNP	G	TCGA-QU-A6IN-01A-11D-A31L-08	31936689	94750559	96403717	9	13560											
KIF13A	63971	broad.mit.edu	37	chr6	17855689	17855689	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttggggtctaaaagatccCgaactttctcattataaatt	12	15	6	8	1	2	1	1	0	2	1	4	2	3	1	1	2	1	0	1	2	6	6			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr6:17855689C>T	ENST00000378814.5	-	6	472	c.473G>A	c.(472-474)cGg>cAg	p.R158Q	KIF13A_ENST00000378816.5_Missense_Mutation_p.R158Q|KIF13A_ENST00000259711.6_Missense_Mutation_p.R158Q|KIF13A_ENST00000378843.2_Missense_Mutation_p.R158Q|KIF13A_ENST00000378826.2_Missense_Mutation_p.R158Q	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	158	Kinesin-motor.				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TAAAAGATCCCGAACTTTCTC	0.338													3	59					0	0	1	0	0	T	17855689	C	T	17855689	3	4	259	1	0	0	0	0	1	0	0	0	8316	652	23	1	5105	1	KIF13A	6	17855689	Missense_Mutation	SNP	C	TCGA-QU-A6IN-01A-11D-A31L-08		17855689	153259378	10	13561											
HTR1E	3354	broad.mit.edu	37	chr6	87726074	87726074	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaattctctgatcaaccCtctgctctatacgagtttta	9	16	6	10	1	4	2	1	2	3	0	5	3	4	2	1	0	3	2	1	0	5	5			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr6:87726074C>T	ENST00000305344.4	+	2	1725	c.1022C>T	c.(1021-1023)cCt>cTt	p.P341L	HTR1E_ENST00000369584.1_Missense_Mutation_p.P341L	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	341					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	CTGATCAACCCTCTGCTCTAT	0.433													50	73					0	0	1	0	0	T	87726074	C	T	87726074	3	4	259	1	0	0	0	0	1	0	0	0	7483	681	24	2	1024	2	HTR1E	6	87726074	Missense_Mutation	SNP	C	TCGA-QU-A6IN-01A-11D-A31L-08	69870385	87726074	83388993	11	13562											
TNRC18	84629	broad.mit.edu	37	chr7	5352528	5352530	+	In_Frame_Del	DEL	GAG	GAG	-																															tggaggaagaagaggaggaaGaggaggaggaggaggaggat																										TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr7:5352528_5352530delGAG	ENST00000399537.4	-	27	8340_8342	c.7992_7994delCTC	c.(7990-7995)tct>tc	p.SS2670del	TNRC18_ENST00000430969.1_In_Frame_Del_p.SS2670del			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2670	Ser-rich.						DNA binding	p.S2671delS(2)|p.P1177delP(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		agaggaggaagaggaggaggagg	0.64													2	4	---	---	---	---						-	5352530	GAG	-	5352528	7	5	259	1	0	1	0	1	0	0	0	0	16399	942	33	0	928	0	TNRC18	7	5352528	In_Frame_Del	DEL	GAG	TCGA-QU-A6IN-01A-11D-A31L-08		5352528	153786135	12	13563											
UHRF2	115426	broad.mit.edu	37	chr9	6504676	6504676	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cctgtgacaactgagtgcttCcacaatgtctgtaaagtaag	12	11	9	9	0	1	2	0	2	1	0	2	2	2	2	2	0	2	3	2	0	5	3			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr9:6504676C>T	ENST00000276893.5	+	15	2415	c.2247C>T	c.(2245-2247)ttC>ttT	p.F749F	UHRF2_ENST00000485617.2_3'UTR	NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase	749					cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		CTGAGTGCTTCCACAATGTCT	0.383													9	11					0	0	1	0	0	T	6504676	C	T	6504676	2	4	259	1	0	0	0	0	0	0	0	1	17030	854	30	2		2	UHRF2	9	6504676	Silent	SNP	C	TCGA-QU-A6IN-01A-11D-A31L-08		6504676	134708755	13	13564											
PTCH1	5727	broad.mit.edu	37	chr9	98222052	98222052	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccatctgcatccaccagaCgctgtttagtcaactacaaa	12	10	6	13	1	2	1	1	0	1	1	3	1	3	1	3	0	4	3	3	0	4	3			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr9:98222052C>T	ENST00000430669.2	-	17	3104	c.2519G>A	c.(2518-2520)cGt>cAt	p.R840H	PTCH1_ENST00000437951.1_Missense_Mutation_p.R840H|PTCH1_ENST00000421141.1_Missense_Mutation_p.R755H|PTCH1_ENST00000331920.6_Missense_Mutation_p.R906H|PTCH1_ENST00000429896.2_Missense_Mutation_p.R755H|PTCH1_ENST00000375274.2_Missense_Mutation_p.R905H|PTCH1_ENST00000418258.1_Missense_Mutation_p.R755H			Q13635	PTC1_HUMAN	patched 1	906					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				ATCCACCAGACGCTGTTTAGT	0.537													4	31					0	0	1	0	0	T	98222052	C	T	98222052	3	4	259	1	0	0	0	0	1	0	0	0	12779	536	19	1	1654	1	PTCH1	9	98222052	Missense_Mutation	SNP	C	TCGA-QU-A6IN-01A-11D-A31L-08	91717376	98222052	42991379	14	13565											
PTCHD3	374308	broad.mit.edu	37	chr10	27688043	27688043	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaggccaggatgttagtgAtggtggtgattgtaatagac	12	12	14	3	0	0	3	0	2	0	1	0	4	0	4	1	4	0	2	1	4	4	5			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr10:27688043A>G	ENST00000438700.3	-	4	1601	c.1484T>C	c.(1483-1485)aTc>aCc	p.I495T		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	495	SSD.				spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GATGTTAGTGATGGTGGTGAT	0.403													30	42					0	0	1	0	0	G	27688043	A	G	27688043	3	3	259	1	0	0	0	0	1	0	0	0	12783	333	12	3	823	3	PTCHD3	10	27688043	Missense_Mutation	SNP	A	TCGA-QU-A6IN-01A-11D-A31L-08		27688043	107846704	15	13566											
ZNF408	79797	broad.mit.edu	37	chr11	46726592	46726592	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgtggcaaggcctttgccCgccggccctccctgcggctg	3	8	14	16	3	0	0	0	0	0	0	1	0	1	0	5	4	2	2	5	4	1	1			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr11:46726592C>T	ENST00000311764.2	+	5	1572	c.1342C>T	c.(1342-1344)Cgc>Tgc	p.R448C		NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	448					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGCCTTTGCCCGCCGGCCCTC	0.672													9	80					0	0	1	0	0	T	46726592	C	T	46726592	3	4	259	1	0	0	0	0	1	0	0	0	17945	652	23	1	1392	1	ZNF408	11	46726592	Missense_Mutation	SNP	C	TCGA-QU-A6IN-01A-11D-A31L-08		46726592	88279924	16	13567											
CELF1	10658	broad.mit.edu	37	chr11	47493882	47493882	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actggatggcagcttgggccGaaacaggattgtcgtaactt	10	10	13	8	2	0	0	0	0	0	0	1	3	0	2	1	4	3	3	1	4	2	4			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr11:47493882G>A	ENST00000395290.2	-	12	1367	c.1358C>T	c.(1357-1359)tCg>tTg	p.S453L	CELF1_ENST00000532048.1_Missense_Mutation_p.S480L|CELF1_ENST00000531165.1_Missense_Mutation_p.S482L|CELF1_ENST00000358597.3_Missense_Mutation_p.S454L|CELF1_ENST00000395292.2_Missense_Mutation_p.S451L|CELF1_ENST00000361904.3_Missense_Mutation_p.S451L|CELF1_ENST00000310513.5_Missense_Mutation_p.S450L|CELF1_ENST00000539455.1_5'UTR	NM_001025596.2|NM_001172640.1	NP_001020767.1|NP_001166111.1	Q92879	CELF1_HUMAN	CUGBP, Elav-like family member 1	454	RRM 3.				embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						AGCTTGGGCCGAAACAGGATT	0.483													4	145					0	0	1	0	0	A	47493882	G	A	47493882	3	1	259	1	0	0	0	0	1	0	0	0	3237	1059	37	1	103	1	CELF1	11	47493882	Missense_Mutation	SNP	G	TCGA-QU-A6IN-01A-11D-A31L-08	767290	47493882	87512634	17	13568											
PRPF19	27339	broad.mit.edu	37	chr11	60658695	60658695	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgaagcgatgaacttggcGtgatgcccgaaggccacccc	9	7	13	12	3	0	3	0	3	0	0	0	5	0	3	4	2	3	1	4	2	3	2			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr11:60658695G>A	ENST00000227524.4	-	16	1663	c.1458C>T	c.(1456-1458)caC>caT	p.H486H		NM_014502.4	NP_055317.1	Q9UMS4	PRP19_HUMAN	pre-mRNA processing factor 19	486					DNA repair|protein polyubiquitination|spliceosome assembly	catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex	DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity	p.H486H(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						TGAACTTGGCGTGATGCCCGA	0.542													13	20					0	0	1	0	0	A	60658695	G	A	60658695	2	1	259	1	0	0	0	0	0	0	0	1	12616	1136	40	1		1	PRPF19	11	60658695	Silent	SNP	G	TCGA-QU-A6IN-01A-11D-A31L-08	13164813	60658695	74347821	18	13569											
PRICKLE1	0	broad.mit.edu	37	chr12	42860182	42860182	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactcatcagcaaaaattaTcttcaaaaagaaatgtgaaa	20	9	5	7	0	4	2	3	1	1	1	4	2	4	2	0	0	1	2	0	0	7	2			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr12:42860182T>C	ENST00000455697.1	-	6	874	c.588_splice	c.e6-1	p.I197_splice	PRICKLE1_ENST00000345127.3_Splice_Site_p.I197_splice|PRICKLE1_ENST00000552240.1_Splice_Site_p.I197_splice|PRICKLE1_ENST00000548696.1_Splice_Site_p.I197_splice|PRICKLE1_ENST00000445766.2_Splice_Site_p.I197_splice	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	197	LIM zinc-binding 2.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		GCAAAAATTATCTTCAAAAAG	0.433													19	21					0	0	1	0	0	C	42860182	T	C	42860182	5	2	259	1	0	0	0	0	0	0	1	0	12538	1449	50	3	1918	3	PRICKLE1	12	42860182	Splice_Site	SNP	T	TCGA-QU-A6IN-01A-11D-A31L-08		42860182	90991713	19	13570											
FOXA1	3169	broad.mit.edu	37	chr14	38061208	38061208	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgaagcgcttctggcggcGcaagtagcagccgttctcga	7	9	13	12	5	2	1	0	1	2	0	3	2	2	1	1	2	3	5	1	2	3	4			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr14:38061208G>A	ENST00000250448.2	-	2	842	c.781C>T	c.(781-783)Cgc>Tgc	p.R261C	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Missense_Mutation_p.R228C	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	261					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		TTCTGGCGGCGCAAGTAGCAG	0.716													7	10					0	0	1	0	0	A	38061208	G	A	38061208	3	1	259	1	0	0	0	0	1	0	0	0	6022	1087	38	1	641	1	FOXA1	14	38061208	Missense_Mutation	SNP	G	TCGA-QU-A6IN-01A-11D-A31L-08		38061208	69288332	20	13571											
USP8	9101	broad.mit.edu	37	chr15	50788105	50788105	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atctcgatgactttaaagctGcagaacatgcctggcagaaa	14	9	9	9	1	1	3	0	1	1	2	2	4	1	3	1	1	4	3	1	1	4	2			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr15:50788105G>T	ENST00000433963.1	+	18	3219	c.2719G>T	c.(2719-2721)Gca>Tca	p.A907S	USP8_ENST00000307179.4_Missense_Mutation_p.A907S|USP8_ENST00000396444.3_Missense_Mutation_p.A907S|USP8_ENST00000425032.3_Missense_Mutation_p.A801S|RP11-562A8.5_ENST00000560159.1_lincRNA	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	907					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		CTTTAAAGCTGCAGAACATGC	0.353													17	19					1.02788e-11	1.12578e-11	1	1	0	T	50788105	G	T	50788105	3	4	259	1	0	0	0	0	1	0	0	0	17149	1319	46	4	2781	4	USP8	15	50788105	Missense_Mutation	SNP	G	TCGA-QU-A6IN-01A-11D-A31L-08		50788105	51743287	21	13572											
THSD4	79875	broad.mit.edu	37	chr15	71952952	71952952	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagacaacacgggctgtcaGgttgtgtcgggcgtgtttaa	8	10	16	7	3	1	1	1	0	0	1	2	2	1	1	0	4	1	3	0	4	2	3			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr15:71952952G>T	ENST00000355327.3	+	8	1370	c.1236G>T	c.(1234-1236)caG>caT	p.Q412H	THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000357769.4_Missense_Mutation_p.Q52H|THSD4_ENST00000261862.6_Missense_Mutation_p.Q412H			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	412						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CGGGCTGTCAGGTTGTGTCGG	0.542													46	104					2.24722e-20	2.52127e-20	1	1	0	T	71952952	G	T	71952952	3	4	259	1	0	0	0	0	1	0	0	0	15938	991	35	4	1262	4	THSD4	15	71952952	Missense_Mutation	SNP	G	TCGA-QU-A6IN-01A-11D-A31L-08	21164847	71952952	30578440	22	13573											
SLC5A10	125206	broad.mit.edu	37	chr17	18923109	18923109	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgaacccagccccaccgtgCggagagccagacacgcggcc	9	2	12	18	4	0	3	0	1	0	2	0	4	0	3	6	2	4	0	6	2	1	0			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr17:18923109C>T	ENST00000317977.6	+	13	1975	c.1404C>T	c.(1402-1404)tgC>tgT	p.C468C	SLC5A10_ENST00000395642.1_Silent_p.C468C|SLC5A10_ENST00000417251.2_Silent_p.C462C|SLC5A10_ENST00000395647.2_Silent_p.C514C|SLC5A10_ENST00000395645.3_Silent_p.C498C|SLC5A10_ENST00000395643.2_Silent_p.C471C			A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	498					sodium ion transport|transmembrane transport	integral to membrane	transporter activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						CCCCACCGTGCGGAGAGCCAG	0.667													9	7					0	0	1	0	0	T	18923109	C	T	18923109	2	4	259	1	0	0	0	0	0	0	0	1	14717	776	27	1		1	SLC5A10	17	18923109	Silent	SNP	C	TCGA-QU-A6IN-01A-11D-A31L-08		18923109	62272101	23	13574											
MED24	9862	broad.mit.edu	37	chr17	38182576	38182576	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttccctttgatgttatcAgtgattttctaggggagacg	8	15	10	8	1	2	3	1	2	1	1	3	4	3	3	2	2	0	1	2	2	2	6			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr17:38182576A>C	ENST00000394126.1	-	18	2311	c.1893T>G	c.(1891-1893)acT>acG	p.T631T	MED24_ENST00000394127.2_Silent_p.T593T|MED24_ENST00000356271.3_Silent_p.T593T|MED24_ENST00000501516.3_Silent_p.T625T|MED24_ENST00000394128.2_Silent_p.T606T			O75448	MED24_HUMAN	mediator complex subunit 24	606					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					TGATGTTATCAGTGATTTTCT	0.557													39	63					0	0	1	0	0	C	38182576	A	C	38182576	2	2	259	1	0	0	0	0	0	0	0	1	9492	175	7	5		5	MED24	17	38182576	Silent	SNP	A	TCGA-QU-A6IN-01A-11D-A31L-08	19259467	38182576	43012634	24	13575											
HDAC5	10014	broad.mit.edu	37	chr17	42169758	42169758	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcccttacccccaggccCggcacctgtgatctcaacag	8	6	9	18	1	1	1	1	1	1	0	2	1	1	1	5	2	3	2	5	2	2	1	rs140895306		TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr17:42169758C>A	ENST00000225983.6	-	8	1236	c.913G>T	c.(913-915)Ggg>Tgg	p.G305W	HDAC5_ENST00000586802.1_Missense_Mutation_p.G304W|HDAC5_ENST00000393622.2_Missense_Mutation_p.G304W|HDAC5_ENST00000336057.5_Missense_Mutation_p.G304W			Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	304					B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		CCCCCAGGCCCGGCACCTGTG	0.582													4	58					0.150653	0.150653	1	1	0	A	42169758	C	A	42169758	3	1	259	1	0	0	0	0	1	0	0	0	7051	652	23	4	2538	4	HDAC5	17	42169758	Missense_Mutation	SNP	C	TCGA-QU-A6IN-01A-11D-A31L-08	3987182	42169758	39025452	25	13576											
BPTF	2186	broad.mit.edu	37	chr17	65907564	65907564	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaattccattgaaaatgaCatagaagaaaaagtctctga	20	9	6	6	0	1	5	0	3	1	2	3	5	2	5	1	0	0	0	1	0	8	3			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr17:65907564C>T	ENST00000321892.4	+	13	4003	c.3942C>T	c.(3940-3942)gaC>gaT	p.D1314D	BPTF_ENST00000335221.5_Silent_p.D1314D|BPTF_ENST00000306378.6_Silent_p.D1188D|BPTF_ENST00000424123.3_Silent_p.D1175D			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1314					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTGAAAATGACATAGAAGAAA	0.378													13	10					0	0	1	0	0	T	65907564	C	T	65907564	2	4	259	1	0	0	0	0	0	0	0	1	1497	477	17	2		2	BPTF	17	65907564	Silent	SNP	C	TCGA-QU-A6IN-01A-11D-A31L-08	23737806	65907564	15287646	26	13577											
MRO	83876	broad.mit.edu	37	chr18	48333127	48333127	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtttctcattgccatgtgacGctttttagcactggggtccc	5	15	10	11	1	1	1	1	1	1	0	3	1	2	1	2	2	2	3	2	2	1	5			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr18:48333127G>A	ENST00000428869.2	-	5	451	c.193C>T	c.(193-195)Cgt>Tgt	p.R65C	MRO_ENST00000436348.2_Missense_Mutation_p.R79C|MRO_ENST00000587291.1_Intron|MRO_ENST00000588444.1_Missense_Mutation_p.R65C|MRO_ENST00000431965.2_Missense_Mutation_p.R79C|MRO_ENST00000398439.3_Missense_Mutation_p.R65C|MRO_ENST00000256425.2_Missense_Mutation_p.R65C			Q9BYG7	MSTRO_HUMAN	maestro	65						nucleolus	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10		Colorectal(6;0.0596)		Colorectal(21;0.082)		GCCATGTGACGCTTTTTAGCA	0.542													12	121					0	0	1	0	0	A	48333127	G	A	48333127	3	1	259	1	0	0	0	0	1	0	0	0	9821	1087	38	1	573	1	MRO	18	48333127	Missense_Mutation	SNP	G	TCGA-QU-A6IN-01A-11D-A31L-08		48333127	29744121	27	13578											
HLCS	3141	broad.mit.edu	37	chr21	38311178	38311178	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttatccatgtggagtctatcTtccatgaacgccacccccag	9	11	7	14	1	2	1	0	1	2	0	4	2	4	2	5	1	1	0	5	1	3	3			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr21:38311178T>C	ENST00000399120.1	-	4	1236	c.6A>G	c.(4-6)gaA>gaG	p.E2E	HLCS_ENST00000336648.3_Silent_p.E2E	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	2					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	GGAGTCTATCTTCCATGAACG	0.458													32	48					0	0	1	0	0	C	38311178	T	C	38311178	2	2	259	1	0	0	0	0	0	0	0	1	7254	1606	56	3		3	HLCS	21	38311178	Silent	SNP	T	TCGA-QU-A6IN-01A-11D-A31L-08		38311178	9818717	28	13579											
CCDC157	550631	broad.mit.edu	37	chr22	30762123	30762123	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcctggaagttccctgaccGcatggcctgtgacctcgaca	7	9	10	15	2	0	2	0	2	0	0	3	4	2	3	5	2	0	2	5	2	1	1			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr22:30762123G>A	ENST00000405659.1	+	3	843	c.134G>A	c.(133-135)cGc>cAc	p.R45H	CCDC157_ENST00000338306.3_Missense_Mutation_p.R45H|CCDC157_ENST00000399824.2_Missense_Mutation_p.R45H			Q569K6	CC157_HUMAN	coiled-coil domain containing 157	45										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						TTCCCTGACCGCATGGCCTGT	0.652													4	147					0	0	1	0	0	A	30762123	G	A	30762123	3	1	259	1	0	0	0	0	1	0	0	0	2808	1087	38	1	136	1	CCDC157	22	30762123	Missense_Mutation	SNP	G	TCGA-QU-A6IN-01A-11D-A31L-08		30762123	20542443	29	13580											
NCF4	4689	broad.mit.edu	37	chr22	37263465	37263465	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgggtgtgaaacaggagatCgccgagatgcggatacctgc	10	7	16	8	3	0	3	0	1	0	2	1	6	0	4	2	3	4	0	2	3	2	1			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chr22:37263465C>T	ENST00000397147.4	+	4	487	c.303C>T	c.(301-303)atC>atT	p.I101I	CTA-833B7.2_ENST00000431290.1_RNA|CTA-833B7.2_ENST00000330602.2_RNA|NCF4_ENST00000248899.6_Silent_p.I101I	NM_013416.3	NP_038202.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa	101	PX.				cell communication|immune response|oxidation-reduction process	cytosol|NADPH oxidase complex	phosphatidylinositol binding|protein dimerization activity			cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						AACAGGAGATCGCCGAGATGC	0.607													14	32					0	0	1	0	0	T	37263465	C	T	37263465	2	4	259	1	0	0	0	0	0	0	0	1	10265	874	31	1		1	NCF4	22	37263465	Silent	SNP	C	TCGA-QU-A6IN-01A-11D-A31L-08	6501342	37263465	14041101	30	13581											
MAGEB6	158809	broad.mit.edu	37	chrX	26212779	26212779	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaagctaggcctccccagTgaaggaattctgagtggtga	11	8	13	9	0	1	3	0	3	1	0	2	4	2	4	3	3	2	2	3	3	4	2			TCGA-QU-A6IN-01A-11D-A31L-08	TCGA-QU-A6IN-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8799b1d-3e1e-4d2a-ac5c-63509cd01c8b	9a41f5ef-4649-44de-883f-c7c0c4ee5de4	g.chrX:26212779T>A	ENST00000379034.1	+	2	965	c.816T>A	c.(814-816)agT>agA	p.S272R		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	272	MAGE.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						GCCTCCCCAGTGAAGGAATTC	0.532													51	11					0	0	1	0	0	A	26212779	T	A	26212779	3	1	259	1	0	0	0	0	1	0	0	0	9229	1693	59	5	818	5	MAGEB6	23	26212779	Missense_Mutation	SNP	T	TCGA-QU-A6IN-01A-11D-A31L-08		26212779	129057781	31	13582											
UBIAD1	29914	broad.mit.edu	37	chr1	11345718	11345718	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaattggattcaagtacGtggctctgggagacctcatc	10	10	12	9	1	3	1	2	0	1	1	4	4	3	3	1	4	1	2	1	4	3	3			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr1:11345718G>A	ENST00000376810.5	+	2	873	c.547G>A	c.(547-549)Gtg>Atg	p.V183M	UBIAD1_ENST00000376804.2_Intron	NM_013319.2	NP_037451.1	Q9Y5Z9	UBIA1_HUMAN	UbiA prenyltransferase domain containing 1	183					menaquinone biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus	prenyltransferase activity	p.V183M(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		ATTCAAGTACGTGGCTCTGGG	0.552													4	54					0	0	1	0	0	A	11345718	G	A	11345718	3	1	260	1	0	0	0	0	1	0	0	0	16946	1145	40	1	553	1	UBIAD1	1	11345718	Missense_Mutation	SNP	G	TCGA-QU-A6IO-01A-11D-A31L-08		11345718	237904903	1	13583											
KPNA6	23633	broad.mit.edu	37	chr1	32622470	32622470	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcagctttttaaacggagaaAtgtggagctgattaatgaag	14	12	11	4	1	1	3	1	2	0	1	1	5	1	4	0	2	3	2	0	2	5	4			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr1:32622470A>T	ENST00000373625.3	+	3	248	c.155A>T	c.(154-156)aAt>aTt	p.N52I	KPNA6_ENST00000469790.1_3'UTR|KPNA6_ENST00000545542.1_Missense_Mutation_p.N57I|KPNA6_ENST00000537234.1_Missense_Mutation_p.N49I	NM_012316.4	NP_036448.1	O60684	IMA7_HUMAN	karyopherin alpha 6 (importin alpha 7)	52	IBB.				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				AAACGGAGAAATGTGGAGCTG	0.413													12	68					0	0	1	0	0	T	32622470	A	T	32622470	3	4	260	1	0	0	0	0	1	0	0	0	8477	101	4	5	165	5	KPNA6	1	32622470	Missense_Mutation	SNP	A	TCGA-QU-A6IO-01A-11D-A31L-08	21276752	32622470	216628151	2	13584											
SGIP1	84251	broad.mit.edu	37	chr1	67154846	67154846	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcaggtgcatcatcccctgCtcgaccagccactcctttgg	6	11	8	16	1	2	0	2	0	0	0	5	1	4	0	5	2	3	2	5	2	0	2			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr1:67154846C>T	ENST00000371037.4	+	16	1408	c.1331C>T	c.(1330-1332)gCt>gTt	p.A444V	SGIP1_ENST00000371035.3_Missense_Mutation_p.A234V|SGIP1_ENST00000371036.3_Missense_Mutation_p.A244V|SGIP1_ENST00000371039.1_Missense_Mutation_p.A245V|SGIP1_ENST00000237247.6_Missense_Mutation_p.A475V	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	444	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						TCATCCCCTGCTCGACCAGCC	0.537													8	382					0	0	1	0	0	T	67154846	C	T	67154846	3	4	260	1	0	0	0	0	1	0	0	0	14260	797	28	2	1393	2	SGIP1	1	67154846	Missense_Mutation	SNP	C	TCGA-QU-A6IO-01A-11D-A31L-08	34532376	67154846	182095775	3	13585											
YY1AP1	55249	broad.mit.edu	37	chr1	155646464	155646464	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggctgaaggtttcttcaTcttcagctgttcaaatagtt	8	18	8	7	0	5	1	3	1	2	0	5	1	5	1	0	2	1	5	0	2	3	7			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr1:155646464T>C	ENST00000368340.5	-	4	721	c.613A>G	c.(613-615)Atg>Gtg	p.M205V	MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000295566.4_Missense_Mutation_p.M133V|YY1AP1_ENST00000355499.4_Missense_Mutation_p.M67V|YY1AP1_ENST00000438245.2_Missense_Mutation_p.M67V|YY1AP1_ENST00000368339.5_Missense_Mutation_p.M205V|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000311573.5_Missense_Mutation_p.M56V|YY1AP1_ENST00000404643.1_Missense_Mutation_p.M67V|YY1AP1_ENST00000368330.2_Missense_Mutation_p.M67V|YY1AP1_ENST00000361831.5_Missense_Mutation_p.M56V|YY1AP1_ENST00000359205.5_Missense_Mutation_p.M56V|YY1AP1_ENST00000347088.5_Missense_Mutation_p.M67V|YY1AP1_ENST00000407221.1_Missense_Mutation_p.M56V|YY1AP1_ENST00000405763.3_Missense_Mutation_p.M205V|YY1AP1_ENST00000476093.1_5'UTR	NM_001198904.1	NP_001185833.1			YY1 associated protein 1											central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					GGTTTCTTCATCTTCAGCTGT	0.443													16	74					0	0	1	0	0	C	155646464	T	C	155646464	3	2	260	1	0	0	0	0	1	0	0	0	17568	1435	50	3	2081	3	YY1AP1	1	155646464	Missense_Mutation	SNP	T	TCGA-QU-A6IO-01A-11D-A31L-08	88491618	155646464	93604157	4	13586											
FCRL2	79368	broad.mit.edu	37	chr1	157737056	157737056	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcactgcctcactgcactggGcccccaggccgttgttggcc	4	8	12	17	1	1	0	1	0	0	0	1	0	1	0	5	3	2	4	5	3	0	2			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr1:157737056G>A	ENST00000361516.3	-	6	1175	c.1127C>T	c.(1126-1128)gCc>gTc	p.A376V	FCRL2_ENST00000469986.1_Missense_Mutation_p.A123V|FCRL2_ENST00000392274.3_Missense_Mutation_p.A376V|FCRL2_ENST00000368181.4_Intron	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	376	Ig-like C2-type 4.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			ACTGCACTGGGCCCCCAGGCC	0.572													21	60					0	0	1	0	0	A	157737056	G	A	157737056	3	1	260	1	0	0	0	0	1	0	0	0	5828	1203	42	2	427	2	FCRL2	1	157737056	Missense_Mutation	SNP	G	TCGA-QU-A6IO-01A-11D-A31L-08	2090592	157737056	91513565	5	13587											
OR10R2	343406	broad.mit.edu	37	chr1	158449735	158449735	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccctttgcagatcttggCagaaaacctcaccatggtca	10	10	7	14	0	3	2	2	0	1	2	4	2	4	2	4	2	2	2	4	2	2	2			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr1:158449735C>A	ENST00000368152.1	+	1	68	c.68C>A	c.(67-69)gCa>gAa	p.A23E	RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					CAGATCTTGGCAGAAAACCTC	0.423													12	112					7.03913e-09	7.7032e-09	1	1	0	A	158449735	C	A	158449735	3	1	260	1	0	0	0	0	1	0	0	0	10965	710	25	4	70	4	OR10R2	1	158449735	Missense_Mutation	SNP	C	TCGA-QU-A6IO-01A-11D-A31L-08	712679	158449735	90800886	6	13588											
WNT3A	89780	broad.mit.edu	37	chr1	228238397	228238397	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccacgccattgcctcagcCggtgtggcctttgcagtgac	5	10	12	14	2	1	1	1	1	0	0	2	1	2	1	5	2	3	1	5	2	0	2	rs151253698		TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr1:228238397C>T	ENST00000284523.1	+	3	432	c.354C>T	c.(352-354)gcC>gcT	p.A118A	WNT3A_ENST00000366753.2_Silent_p.A118A	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	118					axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				TTGCCTCAGCCGGTGTGGCCT	0.622													18	15					0	0	1	0	0	T	228238397	C	T	228238397	2	4	260	1	0	0	0	0	0	0	0	1	17449	639	23	1		1	WNT3A	1	228238397	Silent	SNP	C	TCGA-QU-A6IO-01A-11D-A31L-08	69788662	228238397	21012224	7	13589											
TRIM67	440730	broad.mit.edu	37	chr1	231299652	231299652	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaaatggagaactacagcAtgtactgcgtgagctgtcga	13	9	12	7	2	0	3	0	2	0	1	1	5	0	3	0	1	6	3	0	1	4	2			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr1:231299652A>C	ENST00000444294.3	+	1	1795	c.937A>C	c.(937-939)Atg>Ctg	p.M313L	TRIM67_ENST00000366652.2_Missense_Mutation_p.M313L|TRIM67_ENST00000449018.3_Missense_Mutation_p.M251L|TRIM67_ENST00000366653.5_Missense_Mutation_p.M313L	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	313						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				GAACTACAGCATGTACTGCGT	0.672													3	6					0	0	1	0	0	C	231299652	A	C	231299652	3	2	260	1	0	0	0	0	1	0	0	0	16601	217	8	5	939	5	TRIM67	1	231299652	Missense_Mutation	SNP	A	TCGA-QU-A6IO-01A-11D-A31L-08	3061255	231299652	17950969	8	13590											
OR2T1	26696	broad.mit.edu	37	chr1	248569715	248569715	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aattacctgctggatcaaagGaccatttcctttgtggggtg	9	13	11	8	0	1	0	1	0	0	0	2	2	2	2	3	4	2	1	3	4	3	3			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr1:248569715G>A	ENST00000366474.1	+	1	420	c.420G>A	c.(418-420)agG>agA	p.R140R		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGGATCAAAGGACCATTTCCT	0.478													15	144					0	0	1	0	0	A	248569715	G	A	248569715	2	1	260	1	0	0	0	0	0	0	0	1	11064	1165	41	2		2	OR2T1	1	248569715	Silent	SNP	G	TCGA-QU-A6IO-01A-11D-A31L-08	17270063	248569715	680906	9	13591											
FOXN2	3344	broad.mit.edu	37	chr2	48573435	48573435	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgcaggattaagccagattTacaaaatgggaagcttgcct	13	11	10	7	0	0	1	0	0	0	1	0	3	0	3	2	2	5	2	2	2	5	5			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr2:48573435T>C	ENST00000340553.3	+	3	343	c.82T>C	c.(82-84)Tac>Cac	p.Y28H		NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	forkhead box N2	28					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			AAGCCAGATTTACAAAATGGG	0.463													38	86					0	0	1	0	0	C	48573435	T	C	48573435	3	2	260	1	0	0	0	0	1	0	0	0	6054	1754	61	3	84	3	FOXN2	2	48573435	Missense_Mutation	SNP	T	TCGA-QU-A6IO-01A-11D-A31L-08		48573435	194625938	10	13592											
HOXD4	3233	broad.mit.edu	37	chr2	177016758	177016758	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cactcaagcagccggccgtgGtctacccctggatgaagaag	10	6	12	13	2	2	2	1	1	1	1	2	3	2	3	4	3	3	1	4	3	4	1			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr2:177016758G>A	ENST00000306324.3	+	1	809	c.397G>A	c.(397-399)Gtc>Atc	p.V133I	HOXD3_ENST00000468418.3_5'UTR	NM_014621.2	NP_055436.2	P09016	HXD4_HUMAN	homeobox D4	133						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		GCCGGCCGTGGTCTACCCCTG	0.672													6	45					0	0	1	0	0	A	177016758	G	A	177016758	3	1	260	1	0	0	0	0	1	0	0	0	7365	1261	44	2	399	2	HOXD4	2	177016758	Missense_Mutation	SNP	G	TCGA-QU-A6IO-01A-11D-A31L-08	128443323	177016758	66182615	11	13593											
CPS1	1373	broad.mit.edu	37	chr2	211438054	211438054	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacattgtcctggaagatggAactaagatgaaaggttactc	14	10	10	7	0	0	3	0	1	0	2	2	5	1	5	1	3	2	1	1	3	5	3			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr2:211438054A>T	ENST00000233072.5	+	2	355	c.159A>T	c.(157-159)ggA>ggT	p.G53G	CPS1_ENST00000430249.2_Silent_p.G59G	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	53	Anthranilate phosphoribosyltransferase homolog.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TGGAAGATGGAACTAAGATGA	0.418													35	67					0	0	1	0	0	T	211438054	A	T	211438054	2	4	260	1	0	0	0	0	0	0	0	1	3846	233	9	5		5	CPS1	2	211438054	Silent	SNP	A	TCGA-QU-A6IO-01A-11D-A31L-08	34421296	211438054	31761319	12	13594											
OGG1	4968	broad.mit.edu	37	chr3	9798825	9798825	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaaagggttccaaagggccGgaaggctagatggggcaccc	12	4	16	9	1	0	2	0	0	0	2	1	3	1	3	3	6	0	3	3	6	4	2			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr3:9798825G>A	ENST00000302003.7	+	7	1389	c.1046G>A	c.(1045-1047)cGg>cAg	p.R349Q	OGG1_ENST00000349503.5_Intron|OGG1_ENST00000344629.7_Silent_p.P343P|OGG1_ENST00000449570.2_Intron|OGG1_ENST00000339511.5_3'UTR|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000302036.7_Intron|OGG1_ENST00000302008.8_Intron	NM_002542.5|NM_016820.3	NP_002533.1|NP_058213.1	O15527	OGG1_HUMAN	8-oxoguanine DNA glycosylase	43					depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation	mitochondrion|nuclear matrix|nuclear speck	damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding			kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8	Medulloblastoma(99;0.227)					CCAAAGGGCCGGAAGGCTAGA	0.602								Base excision repair (BER), DNA glycosylases					4	128					0	0	1	0	0	A	9798825	G	A	9798825	3	1	260	1	0	0	0	0	1	0	0	0	10893	1116	39	1	1099	1	OGG1	3	9798825	Missense_Mutation	SNP	G	TCGA-QU-A6IO-01A-11D-A31L-08		9798825	188223605	13	13595											
EOMES	8320	broad.mit.edu	37	chr3	27761814	27761814	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctcaagaaaggaaacatgCgcctgtgcaagggaatagaa	17	5	12	7	1	1	2	1	0	0	2	1	4	1	4	1	2	4	2	1	2	7	1			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr3:27761814C>A	ENST00000295743.4	-	2	1087	c.884G>T	c.(883-885)cGc>cTc	p.R295L	EOMES_ENST00000537516.1_5'UTR|EOMES_ENST00000449599.1_Missense_Mutation_p.R295L|EOMES_ENST00000461503.1_5'UTR			O95936	EOMES_HUMAN	eomesodermin	295					CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						AGGAAACATGCGCCTGTGCAA	0.532													12	124					0.000151284	0.000162491	1	1	0	A	27761814	C	A	27761814	3	1	260	1	0	0	0	0	1	0	0	0	5175	768	27	4	1196	4	EOMES	3	27761814	Missense_Mutation	SNP	C	TCGA-QU-A6IO-01A-11D-A31L-08	17962989	27761814	170260616	14	13596											
YEATS2	55689	broad.mit.edu	37	chr3	183521930	183521930	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgagagcctgaggaatgaCggggactccatcgaggacgt	10	6	15	10	3	0	3	0	3	0	1	2	8	1	6	3	4	1	0	3	4	1	0			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr3:183521930C>T	ENST00000305135.5	+	27	3933	c.3738C>T	c.(3736-3738)gaC>gaT	p.D1246D		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	1246					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TGAGGAATGACGGGGACTCCA	0.617													4	156					0	0	1	0	0	T	183521930	C	T	183521930	2	4	260	1	0	0	0	0	0	0	0	1	17532	535	19	1		1	YEATS2	3	183521930	Silent	SNP	C	TCGA-QU-A6IO-01A-11D-A31L-08	155760116	183521930	14500500	15	13597											
PCDHGA2	0	broad.mit.edu	37	chr5	140719242	140719242	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgtgaaggtcctggatgCgaacgacaatgcgcctgttt	8	10	13	10	4	0	1	0	1	0	0	1	4	1	2	2	2	4	1	2	2	3	1			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr5:140719242C>T	ENST00000394576.2	+	1	704	c.704C>T	c.(703-705)gCg>gTg	p.A235V	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1												p.A235V(2)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCCTGGATGCGAACGACAAT	0.592													4	81					0	0	1	0	0	T	140719242	C	T	140719242	3	4	260	1	0	0	0	0	1	0	0	0	11601	768	27	1	706	1	PCDHGA2	5	140719242	Missense_Mutation	SNP	C	TCGA-QU-A6IO-01A-11D-A31L-08		140719242	40196018	16	13598											
TNIP1	10318	broad.mit.edu	37	chr5	150415234	150415234	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcatgcgctcacgatcactgCgctccctctggaagtcctcc	6	10	8	17	3	4	0	3	0	1	0	7	2	7	1	3	1	2	2	3	1	1	0			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr5:150415234C>T	ENST00000389378.2	-	14	2018	c.1430G>A	c.(1429-1431)cGc>cAc	p.R477H	TNIP1_ENST00000518977.1_Missense_Mutation_p.R477H|TNIP1_ENST00000522226.1_Missense_Mutation_p.R477H|TNIP1_ENST00000315050.7_Missense_Mutation_p.R477H|TNIP1_ENST00000521591.1_Missense_Mutation_p.R477H|TNIP1_ENST00000524280.1_Missense_Mutation_p.R477H|TNIP1_ENST00000520931.1_Missense_Mutation_p.R424H|TNIP1_ENST00000521423.1_Intron|TNIP1_ENST00000523200.1_Missense_Mutation_p.R477H|TNIP1_ENST00000523338.1_Missense_Mutation_p.R477H	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	477					defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACGATCACTGCGCTCCCTCTG	0.577													4	84					0	0	1	0	0	T	150415234	C	T	150415234	3	4	260	1	0	0	0	0	1	0	0	0	16374	768	27	1	500	1	TNIP1	5	150415234	Missense_Mutation	SNP	C	TCGA-QU-A6IO-01A-11D-A31L-08	9695992	150415234	30500026	17	13599											
SIRT5	23408	broad.mit.edu	37	chr6	13592062	13592062	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggccggcgagtcgtggtCatcacccagaacatcgatga	10	6	13	12	4	2	2	2	1	0	1	4	4	2	2	2	3	1	0	2	3	1	0			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr6:13592062C>A	ENST00000606117.1	+	5	707	c.411C>A	c.(409-411)gtC>gtA	p.V137V	SIRT5_ENST00000359782.3_Silent_p.V137V|SIRT5_ENST00000379262.4_Silent_p.V137V|SIRT5_ENST00000397350.2_Silent_p.V29V	NM_012241.4	NP_036373.1	Q9NXA8	SIRT5_HUMAN	sirtuin 5	137	Deacetylase sirtuin-type.				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial intermembrane space|mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	11	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.176)		Suramin(DB04786)	GAGTCGTGGTCATCACCCAGA	0.652													13	46					1.33834e-09	1.49276e-09	1	1	0	A	13592062	C	A	13592062	2	1	260	1	0	0	0	0	0	0	0	1	14396	813	29	4		4	SIRT5	6	13592062	Silent	SNP	C	TCGA-QU-A6IO-01A-11D-A31L-08		13592062	157523005	18	13600											
DEFB110	245913	broad.mit.edu	37	chr6	49986788	49986788	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acattgaccattacctattcTgcactctctcctcaagtcca	10	13	3	15	0	3	1	1	1	2	0	6	1	5	1	4	0	2	1	4	0	3	4			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr6:49986788T>G	ENST00000371148.2	-	2	151	c.106A>C	c.(106-108)Aga>Cga	p.R36R	DEFB110_ENST00000393660.2_Intron	NM_001037497.1	NP_001032586.1	Q30KQ9	DB110_HUMAN	defensin, beta 110 locus	36					defense response to bacterium	extracellular region				endometrium(1)|lung(1)|ovary(1)	3	Lung NSC(77;0.042)					TTACCTATTCTGCACTCTCTC	0.393													18	47					0	0	1	0	0	G	49986788	T	G	49986788	2	3	260	1	0	0	0	0	0	0	0	1	4427	1588	55	5		5	DEFB110	6	49986788	Silent	SNP	T	TCGA-QU-A6IO-01A-11D-A31L-08	36394726	49986788	121128279	19	13601											
SENP6	26054	broad.mit.edu	37	chr6	76373050	76373050	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagtcacaaaacacaggattAacaaccaagaagttttatgg	19	8	7	7	0	1	1	1	0	0	1	1	2	1	2	1	2	3	1	1	2	8	3			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr6:76373050A>G	ENST00000370014.3	+	9	1429	c.810A>G	c.(808-810)ttA>ttG	p.L270L	SENP6_ENST00000327284.8_Silent_p.L263L|SENP6_ENST00000447266.2_Silent_p.L270L|SENP6_ENST00000370010.2_Silent_p.L263L	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	270					proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				ACACAGGATTAACAACCAAGA	0.343													15	66					0	0	1	0	0	G	76373050	A	G	76373050	2	3	260	1	0	0	0	0	0	0	0	1	14104	359	13	3		3	SENP6	6	76373050	Silent	SNP	A	TCGA-QU-A6IO-01A-11D-A31L-08	26386262	76373050	94742017	20	13602											
PTRH1	138428	broad.mit.edu	37	chr9	130477855	130477855	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccccggggggcgaggctccaAaacacatcggctcatggctc	8	5	13	15	3	1	0	1	0	0	0	4	1	2	0	3	6	1	3	3	6	2	0			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr9:130477855A>G	ENST00000419060.1	-	2	1520	c.64T>C	c.(64-66)Ttg>Ctg	p.L22L	C9orf117_ENST00000373293.5_3'UTR|PTRH1_ENST00000543175.1_Silent_p.L22L|C9orf117_ENST00000464092.1_3'UTR|PTRH1_ENST00000423807.1_Silent_p.L22L			Q86Y79	PTH_HUMAN	peptidyl-tRNA hydrolase 1 homolog (S. cerevisiae)	22					translation		aminoacyl-tRNA hydrolase activity|protein binding			NS(1)	1						CGAGGCTCCAAAACACATCGG	0.677													14	24					0	0	1	0	0	G	130477855	A	G	130477855	2	3	260	1	0	0	0	0	0	0	0	1	12868	11	1	3		3	PTRH1	9	130477855	Silent	SNP	A	TCGA-QU-A6IO-01A-11D-A31L-08		130477855	10735576	21	13603											
SH2D3C	10044	broad.mit.edu	37	chr9	130506867	130506867	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagtccaccttggtgacatgCcgggccagcgtccgggcatc	6	7	13	15	3	0	1	0	1	0	0	3	1	2	1	5	3	2	1	5	3	0	1			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr9:130506867C>T	ENST00000314830.8	-	7	1889	c.1776G>A	c.(1774-1776)cgG>cgA	p.R592R	SH2D3C_ENST00000373276.3_Silent_p.R524R|SH2D3C_ENST00000373277.4_Silent_p.R435R|SH2D3C_ENST00000429553.1_Silent_p.R238R|SH2D3C_ENST00000471939.1_5'UTR|SH2D3C_ENST00000373274.3_Silent_p.R432R|SH2D3C_ENST00000420366.1_Silent_p.R434R	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	592	Ras-GEF.				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TGGTGACATGCCGGGCCAGCG	0.632													4	129					0	0	1	0	0	T	130506867	C	T	130506867	2	4	260	1	0	0	0	0	0	0	0	1	14288	726	26	2		2	SH2D3C	9	130506867	Silent	SNP	C	TCGA-QU-A6IO-01A-11D-A31L-08	29012	130506867	10706564	22	13604											
LAMC3	10319	broad.mit.edu	37	chr9	133928258	133928258	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaggagacctccgaggaCgtggcccctccactgccccc	6	5	11	19	2	0	1	0	0	0	1	2	4	2	2	7	3	2	1	7	3	0	0			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr9:133928258C>T	ENST00000361069.4	+	11	1978	c.1845C>T	c.(1843-1845)gaC>gaT	p.D615D	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	615	Laminin IV type A.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CCTCCGAGGACGTGGCCCCTC	0.697											OREG0019556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	63					0	0	1	0	0	T	133928258	C	T	133928258	2	4	260	1	0	0	0	0	0	0	0	1	8655	535	19	1		1	LAMC3	9	133928258	Silent	SNP	C	TCGA-QU-A6IO-01A-11D-A31L-08	3421391	133928258	7285173	23	13605											
C9orf96	169436	broad.mit.edu	37	chr9	136256483	136256483	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaccctccaacatcatccTcatcagcagtgaccactgca	13	7	4	17	0	3	1	3	1	0	0	5	1	5	1	4	0	4	2	4	0	2	0			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr9:136256483T>G	ENST00000371957.3	+	7	601	c.494T>G	c.(493-495)cTc>cGc	p.L165R	C9orf96_ENST00000371955.1_5'UTR	NM_153710.3	NP_714921.3	Q8NE28	SGK71_HUMAN	chromosome 9 open reading frame 96	165	Protein kinase.						ATP binding|protein kinase activity			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		AACATCATCCTCATCAGCAGT	0.552													17	335					0	0	1	0	0	G	136256483	T	G	136256483	3	3	260	1	0	0	0	0	1	0	0	0	2526	1551	54	5	520	5	C9orf96	9	136256483	Missense_Mutation	SNP	T	TCGA-QU-A6IO-01A-11D-A31L-08	2328225	136256483	4956948	24	13606											
RASSF4	83937	broad.mit.edu	37	chr10	45467247	45467247	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctcttaggcctgctgaaaaCctacaactgctaccatgagg	11	9	9	12	0	1	2	0	2	1	0	1	2	1	2	3	2	6	3	3	2	6	3			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr10:45467247C>T	ENST00000340258.4	+	3	202	c.89C>T	c.(88-90)aCc>aTc	p.T30I	RASSF4_ENST00000472561.1_3'UTR|RASSF4_ENST00000374417.2_Missense_Mutation_p.T30I|C10orf10_ENST00000496638.1_Intron|RASSF4_ENST00000334940.6_Intron	NM_032023.3	NP_114412.2	Q9H2L5	RASF4_HUMAN	Ras association (RalGDS/AF-6) domain family member 4	30					cell cycle|signal transduction		protein binding			NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						CTGCTGAAAACCTACAACTGC	0.562													8	51					0	0	1	0	0	T	45467247	C	T	45467247	3	4	260	1	0	0	0	0	1	0	0	0	13140	507	18	2	95	2	RASSF4	10	45467247	Missense_Mutation	SNP	C	TCGA-QU-A6IO-01A-11D-A31L-08		45467247	90067500	25	13607											
LSP1	4046	broad.mit.edu	37	chr11	1901362	1901362	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgaggaggaggccgtccaCgagcaatgccagcatgagag	12	3	16	10	3	0	1	0	1	0	1	1	7	1	3	3	3	3	2	3	3	1	0	rs150172209		TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr11:1901362C>A	ENST00000381775.1	+	3	591	c.483C>A	c.(481-483)caC>caA	p.H161Q	LSP1_ENST00000405957.2_5'UTR|LSP1_ENST00000406638.2_5'UTR|LSP1_ENST00000311604.3_Missense_Mutation_p.H33Q	NM_001242932.1	NP_001229861.1	P33241	LSP1_HUMAN	lymphocyte-specific protein 1	33					cellular component movement|cellular defense response	actin cytoskeleton|Golgi apparatus|plasma membrane	actin binding|signal transducer activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		AGGCCGTCCACGAGCAATGCC	0.647													8	34					0.000157383	0.000165968	1	1	0	A	1901362	C	A	1901362	3	1	260	1	0	0	0	0	1	0	0	0	9108	535	19	4	105	4	LSP1	11	1901362	Missense_Mutation	SNP	C	TCGA-QU-A6IO-01A-11D-A31L-08		1901362	133105154	26	13608											
OR4C11	219429	broad.mit.edu	37	chr11	55370956	55370956	+	Frame_Shift_Del	DEL	C	C	-																															ataattttgccatgccataaCtttctcatggcatttttcac																								rs140139106		TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr11:55370956delC	ENST00000302231.4	-	1	918	c.894delG	c.(892-894)aafs	p.K298fs		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						CATGCCATAACTTTCTCATGG	0.363													11	45	---	---	---	---						-	55370956	C	-	55370956	7	5	260	1	0	1	0	1	0	0	0	0	11093	564	20	0	40	0	OR4C11	11	55370956	Frame_Shift_Del	DEL	C	TCGA-QU-A6IO-01A-11D-A31L-08	53469594	55370956	79635560	27	13609											
OR4P4	81300	broad.mit.edu	37	chr11	55406191	55406191	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacagggatggcctatgacCgctatgtggccatttgcaag	9	10	12	10	1	1	1	1	1	0	0	1	2	1	2	3	3	1	2	3	3	3	3			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr11:55406191C>T	ENST00000314612.2	+	1	358	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						GGCCTATGACCGCTATGTGGC	0.403													21	60					0	0	1	0	0	T	55406191	C	T	55406191	3	4	260	1	0	0	0	0	1	0	0	0	11128	652	23	1	360	1	OR4P4	11	55406191	Missense_Mutation	SNP	C	TCGA-QU-A6IO-01A-11D-A31L-08	35235	55406191	79600325	28	13610											
OR8K1	390157	broad.mit.edu	37	chr11	56114074	56114074	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagctatttttactgtgactGtatccctctgatgtccatac	8	16	6	11	0	1	2	0	2	1	0	3	2	3	2	2	0	3	2	2	0	4	6			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr11:56114074G>T	ENST00000279783.2	+	1	654	c.560G>T	c.(559-561)tGt>tTt	p.C187F		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					TACTGTGACTGTATCCCTCTG	0.353										HNSCC(65;0.19)			4	90					1	1	1	1	0	T	56114074	G	T	56114074	3	4	260	1	0	0	0	0	1	0	0	0	11290	1377	48	4	562	4	OR8K1	11	56114074	Missense_Mutation	SNP	G	TCGA-QU-A6IO-01A-11D-A31L-08	707883	56114074	78892442	29	13611											
ARAP1	116985	broad.mit.edu	37	chr11	72418283	72418283	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtcaggctgaggagcccCgcagtcagcacagaacctgt	10	5	12	14	1	2	2	2	1	0	1	2	3	2	3	4	2	3	3	4	2	1	0			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr11:72418283C>T	ENST00000359373.5	-	12	2511	c.1660G>A	c.(1660-1662)Ggg>Agg	p.G554R	ARAP1_ENST00000393605.3_Missense_Mutation_p.G314R|ARAP1_ENST00000393609.3_Missense_Mutation_p.G554R|ARAP1_ENST00000429686.1_Missense_Mutation_p.G309R|ARAP1_ENST00000455638.2_Missense_Mutation_p.G554R|ARAP1_ENST00000426523.1_Missense_Mutation_p.G309R|ARAP1_ENST00000334211.8_Missense_Mutation_p.G309R			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	554	Arf-GAP.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						TGAGGAGCCCCGCAGTCAGCA	0.642													4	6					0	0	1	0	0	T	72418283	C	T	72418283	3	4	260	1	0	0	0	0	1	0	0	0	835	652	23	1	2788	1	ARAP1	11	72418283	Missense_Mutation	SNP	C	TCGA-QU-A6IO-01A-11D-A31L-08	16304209	72418283	62588233	30	13612											
RPH3A	22895	broad.mit.edu	37	chr12	113321171	113321171	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgagaccctcgtgtatcacgGcatcaccgatgaggacatgc	10	8	11	12	3	2	2	2	2	0	1	3	5	2	3	2	2	1	2	2	2	1	1			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr12:113321171G>A	ENST00000389385.4	+	16	1897	c.1400G>A	c.(1399-1401)gGc>gAc	p.G467D	RPH3A_ENST00000548866.1_Missense_Mutation_p.G418D|RPH3A_ENST00000447659.2_Missense_Mutation_p.G418D|RPH3A_ENST00000415485.3_Missense_Mutation_p.G467D|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000551052.1_Missense_Mutation_p.G463D|RPH3A_ENST00000543106.2_Missense_Mutation_p.G467D|RPH3A_ENST00000420983.2_Missense_Mutation_p.G467D	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)	467	C2 1.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		GTGTATCACGGCATCACCGAT	0.562													3	26					0	0	1	0	0	A	113321171	G	A	113321171	3	1	260	1	0	0	0	0	1	0	0	0	13603	1203	42	2	1454	2	RPH3A	12	113321171	Missense_Mutation	SNP	G	TCGA-QU-A6IO-01A-11D-A31L-08		113321171	20530724	31	13613											
LIG4	3981	broad.mit.edu	37	chr13	108862482	108862482	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctttctcagagtctcatGccctagctttttattattaa	8	18	4	11	0	3	1	2	0	3	1	5	1	3	1	2	0	2	1	2	0	4	7			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr13:108862482G>A	ENST00000356922.4	-	2	1407	c.1135C>T	c.(1135-1137)Cat>Tat	p.H379Y	LIG4_ENST00000405925.1_Missense_Mutation_p.H379Y|LIG4_ENST00000442234.1_Missense_Mutation_p.H379Y	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	379					cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					AGAGTCTCATGCCCTAGCTTT	0.328								Non-homologous end-joining					7	55					0	0	1	0	0	A	108862482	G	A	108862482	3	1	260	1	0	0	0	0	1	0	0	0	8823	1319	46	2	1604	2	LIG4	13	108862482	Missense_Mutation	SNP	G	TCGA-QU-A6IO-01A-11D-A31L-08		108862482	6307396	32	13614											
ATP8B4	79895	broad.mit.edu	37	chr15	50168708	50168708	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggacagtccacgctgttctGgtcactcacatcctgtaaac	9	10	9	13	1	3	0	2	0	1	0	5	1	5	1	2	2	1	3	2	2	2	2			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr15:50168708G>T	ENST00000284509.6	-	25	2935	c.2794C>A	c.(2794-2796)Cag>Aag	p.Q932K	ATP8B4_ENST00000559829.1_Missense_Mutation_p.Q932K	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	932					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		ACGCTGTTCTGGTCACTCACA	0.423													12	39					1.05317e-09	1.19772e-09	1	1	0	T	50168708	G	T	50168708	3	4	260	1	0	0	0	0	1	0	0	0	1195	1357	47	4	800	4	ATP8B4	15	50168708	Missense_Mutation	SNP	G	TCGA-QU-A6IO-01A-11D-A31L-08		50168708	52362684	33	13615											
CELF6	60677	broad.mit.edu	37	chr15	72582049	72582049	+	Frame_Shift_Del	DEL	C	C	-																															tggccggccatctgctgcatCcgccgcagcgcgcgctcccg																										TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr15:72582049delC	ENST00000287202.5	-	6	920	c.666delG	c.(664-666)cgfs	p.R222fs	CELF6_ENST00000395258.2_Frame_Shift_Del_p.R109fs|RP11-106M3.3_ENST00000570175.1_RNA|CELF6_ENST00000569311.1_5'UTR|RP11-106M3.2_ENST00000379915.4_RNA|CELF6_ENST00000539635.1_Frame_Shift_Del_p.R83fs|CELF6_ENST00000567083.1_Frame_Shift_Del_p.R222fs|CELF6_ENST00000543764.2_Frame_Shift_Del_p.R107fs	NM_052840.4	NP_443072.3	Q96J87	CELF6_HUMAN	CUGBP, Elav-like family member 6	222					mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						TCTGCTGCATCCGCCGCAGCG	0.751													2	4	---	---	---	---						-	72582049	C	-	72582049	7	5	260	1	0	1	0	1	0	0	0	0	3242	842	30	0	807	0	CELF6	15	72582049	Frame_Shift_Del	DEL	C	TCGA-QU-A6IO-01A-11D-A31L-08	22413341	72582049	29949343	34	13616											
KRT27	342574	broad.mit.edu	37	chr17	38933946	38933946	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccagctgtgcacagtagttActctcggtctctgtcaagga	8	11	11	11	1	3	0	1	0	2	0	5	1	3	1	1	2	3	4	1	2	3	2			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr17:38933946A>G	ENST00000301656.3	-	6	1051	c.1011T>C	c.(1009-1011)agT>agC	p.S337S	KRT27_ENST00000540723.1_5'UTR	NM_181537.3	NP_853515.2	Q7Z3Y8	K1C27_HUMAN	keratin 27	337	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity	p.S337R(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				CACAGTAGTTACTCTCGGTCT	0.527													36	156					0	0	1	0	0	G	38933946	A	G	38933946	2	3	260	1	0	0	0	0	0	0	0	1	8507	388	14	3		3	KRT27	17	38933946	Silent	SNP	A	TCGA-QU-A6IO-01A-11D-A31L-08		38933946	42261264	35	13617											
TBCD	6904	broad.mit.edu	37	chr17	80739569	80739569	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagaccatgcagggggtcaTcaccatggatgggacgctgc	9	6	14	12	1	2	1	2	0	0	1	2	3	2	3	3	4	2	2	3	4	0	0			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr17:80739569T>C	ENST00000355528.4	+	7	873	c.743T>C	c.(742-744)aTc>aCc	p.I248T	TBCD_ENST00000397466.2_5'UTR|TBCD_ENST00000539345.2_Missense_Mutation_p.I248T	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	248					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			CAGGGGGTCATCACCATGGAT	0.587											OREG0024827	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	66					0	0	1	0	0	C	80739569	T	C	80739569	3	2	260	1	0	0	0	0	1	0	0	0	15693	1435	50	3	769	3	TBCD	17	80739569	Missense_Mutation	SNP	T	TCGA-QU-A6IO-01A-11D-A31L-08	41805623	80739569	455641	36	13618											
NLRP2	55655	broad.mit.edu	37	chr19	55496573	55496573	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctctgacacctgtcatcTccagagagtggtgtaagtag	10	10	11	10	0	3	2	1	1	2	1	4	3	3	2	3	1	1	2	3	1	2	2			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr19:55496573T>G	ENST00000543010.1	+	7	2332	c.2189T>G	c.(2188-2190)cTc>cGc	p.L730R	NLRP2_ENST00000448584.2_Missense_Mutation_p.L730R|NLRP2_ENST00000538819.1_Missense_Mutation_p.L706R|NLRP2_ENST00000427260.2_Missense_Mutation_p.L707R|NLRP2_ENST00000263437.6_Missense_Mutation_p.L727R|NLRP2_ENST00000537859.1_Missense_Mutation_p.L708R|NLRP2_ENST00000339757.7_Missense_Mutation_p.L708R|NLRP2_ENST00000391721.4_Missense_Mutation_p.L706R	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	730					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		ACCTGTCATCTCCAGAGAGTG	0.403													6	83					0	0	1	0	0	G	55496573	T	G	55496573	3	3	260	1	0	0	0	0	1	0	0	0	10524	1551	54	5	2211	5	NLRP2	19	55496573	Missense_Mutation	SNP	T	TCGA-QU-A6IO-01A-11D-A31L-08		55496573	3632410	37	13619											
PAX1	5075	broad.mit.edu	37	chr20	21689987	21689987	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggcccgccgtggccgcctgCgcaaggtcctcctctggcgc	2	6	15	18	5	1	0	0	0	1	0	3	0	3	0	6	4	1	1	6	4	1	0			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr20:21689987C>T	ENST00000398485.2	+	4	1241	c.1187C>T	c.(1186-1188)gCg>gTg	p.A396V	PAX1_ENST00000444366.2_Missense_Mutation_p.A372V|PAX1_ENST00000460221.1_3'UTR	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	396					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						TGGCCGCCTGCGCAAGGTCCT	0.736													5	17					0	0	1	0	0	T	21689987	C	T	21689987	3	4	260	1	0	0	0	0	1	0	0	0	11525	768	27	1	1201	1	PAX1	20	21689987	Missense_Mutation	SNP	C	TCGA-QU-A6IO-01A-11D-A31L-08		21689987	41335533	38	13620											
RBM39	9584	broad.mit.edu	37	chr20	34312500	34312500	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caaaaaaattacctgtgatgCctgtactatgattggcacgc	13	11	8	9	1	0	2	0	2	0	0	0	2	0	2	2	1	3	2	2	1	6	4			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr20:34312500C>T	ENST00000361162.6	-	8	1063	c.679G>A	c.(679-681)Gca>Aca	p.A227T	RBM39_ENST00000253363.6_Missense_Mutation_p.A227T|RBM39_ENST00000407261.4_Missense_Mutation_p.A70T|RBM39_ENST00000528062.3_Missense_Mutation_p.A205T	NM_004902.3|NM_184234.2	NP_004893.1|NP_909122.1	Q14498	RBM39_HUMAN	RNA binding motif protein 39	227	RRM 1.				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	centrosome|nuclear speck	nucleotide binding|protein binding|RNA binding	p.A227T(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					ACCTGTGATGCCTGTACTATG	0.433													20	58					0	0	1	0	0	T	34312500	C	T	34312500	3	4	260	1	0	0	0	0	1	0	0	0	13185	739	26	2	953	2	RBM39	20	34312500	Missense_Mutation	SNP	C	TCGA-QU-A6IO-01A-11D-A31L-08	12622513	34312500	28713020	39	13621											
DSN1	79980	broad.mit.edu	37	chr20	35383221	35383221	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttcatccataaaggcctgCagctgtttcactgatccttg	8	14	7	12	0	2	1	2	1	0	0	4	1	4	1	3	1	2	3	3	1	2	4			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr20:35383221C>T	ENST00000426836.1	-	10	1278	c.906G>A	c.(904-906)ctG>ctA	p.L302L	DSN1_ENST00000448110.1_Silent_p.L286L|DSN1_ENST00000373734.4_Silent_p.L195L|DSN1_ENST00000473615.1_5'UTR|DSN1_ENST00000373750.4_Silent_p.L302L|DSN1_ENST00000373745.3_Silent_p.L302L|DSN1_ENST00000373740.3_Silent_p.L230L	NM_001145316.1	NP_001138788.1	Q9H410	DSN1_HUMAN	DSN1, MIS12 kinetochore complex component	302					cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	16		Myeloproliferative disorder(115;0.00874)				TAAAGGCCTGCAGCTGTTTCA	0.473													12	49					0	0	1	0	0	T	35383221	C	T	35383221	2	4	260	1	0	0	0	0	0	0	0	1	4806	697	25	2		2	DSN1	20	35383221	Silent	SNP	C	TCGA-QU-A6IO-01A-11D-A31L-08	1070721	35383221	27642299	40	13622											
HNF4A	3172	broad.mit.edu	37	chr20	43056985	43056985	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctacctgcagggtcccccagCgatgcaccccatgcccacca	8	5	8	20	1	0	0	0	0	0	0	1	1	1	0	7	1	5	2	7	1	1	1			TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr20:43056985C>T	ENST00000316099.3	+	9	1229	c.1140C>T	c.(1138-1140)agC>agT	p.S380S	HNF4A_ENST00000457232.1_Silent_p.S358S|HNF4A_ENST00000415691.1_Silent_p.S380S	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	380					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GGTCCCCCAGCGATGCACCCC	0.592													21	71					0	0	1	0	0	T	43056985	C	T	43056985	2	4	260	1	0	0	0	0	0	0	0	1	7294	767	27	1		1	HNF4A	20	43056985	Silent	SNP	C	TCGA-QU-A6IO-01A-11D-A31L-08	7673764	43056985	19968535	41	13623											
TIAM1	7074	broad.mit.edu	37	chr21	32526716	32526716	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggttcatctcatgcaaactgCggcaaaatgcggccacctgt	10	9	10	12	2	2	0	2	0	1	0	3	0	2	0	2	3	4	3	2	3	3	1	rs77092908	byFrequency	TCGA-QU-A6IO-01A-11D-A31L-08	TCGA-QU-A6IO-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1610fca4-8d42-4e49-8bac-0e2f2d6bd7c4	3667be24-0cb9-4641-85f0-8d65e011d511	g.chr21:32526716C>T	ENST00000286827.3	-	18	3491	c.3020G>A	c.(3019-3021)cGc>cAc	p.R1007H	TIAM1_ENST00000541036.1_Missense_Mutation_p.R947H	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1007					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						ATGCAAACTGCGGCAAAATGC	0.577													4	105					0	0	1	0	0	T	32526716	C	T	32526716	3	4	260	1	0	0	0	0	1	0	0	0	15950	768	27	1	1803	1	TIAM1	21	32526716	Missense_Mutation	SNP	C	TCGA-QU-A6IO-01A-11D-A31L-08		32526716	15603179	42	13624											
ARID1A	8289	broad.mit.edu	37	chr1	27023620	27023621	+	In_Frame_Ins	INS	-	-	GCG																															gtggcactccgggctccggcINSgcggcggcggctgccggctc																										TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr1:27023620_27023621insGCG	ENST00000324856.7	+	1	1097_1098	c.726_727insGCG	c.(724-729)ggcggc>ggGCGcggc	p.242_243GG>GRG	ARID1A_ENST00000457599.2_In_Frame_Ins_p.242_243GG>GRG	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	242					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CGGGCTCCGGCGCGGCGGCGGC	0.738			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								4	4	---	---	---	---						GCG	27023621	-	GCG	27023620	7	5	261	1	0	1	1	0	0	0	0	0	910	755	27	0	728	0	ARID1A	1	27023620	In_Frame_Ins	INS	-	TCGA-QU-A6IP-01A-11D-A31L-08		27023620	222227001	1	13625											
FAF1	11124	broad.mit.edu	37	chr1	51049325	51049325	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttaatgtcctaaccctaccTtgaagaaaactctgctgtaa	13	12	6	10	0	1	2	0	1	1	1	2	2	2	2	3	0	4	3	3	0	7	5			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr1:51049325T>C	ENST00000396153.2	-	11	1481	c.1031_splice	c.e11+1	p.R344_splice	FAF1_ENST00000545823.1_Splice_Site_p.R102_splice|FAF1_ENST00000472808.1_5'UTR|FAF1_ENST00000371778.4_Splice_Site_p.R344_splice	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	344					apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity	p.0?(1)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		TAACCCTACCTTGAAGAAAAC	0.289													10	31					0	0	1	0	0	C	51049325	T	C	51049325	5	2	261	1	0	0	0	0	0	0	1	0	5400	1623	56	3	958	3	FAF1	1	51049325	Splice_Site	SNP	T	TCGA-QU-A6IP-01A-11D-A31L-08	24025705	51049325	198201296	2	13626											
PROX1	5629	broad.mit.edu	37	chr1	214171320	214171320	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcaccacgtccaccttccGccaccccttcccccttccct	4	10	2	25	2	1	0	1	0	0	0	5	0	5	0	10	0	0	0	10	0	0	4			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr1:214171320G>A	ENST00000366958.4	+	2	2050	c.1442G>A	c.(1441-1443)cGc>cAc	p.R481H	PROX1_ENST00000261454.4_Missense_Mutation_p.R481H|PROX1_ENST00000435016.1_Missense_Mutation_p.R481H|PROX1_ENST00000498508.2_Missense_Mutation_p.R481H	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	481					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		TCCACCTTCCGCCACCCCTTC	0.637													23	129					0	0	1	0	0	A	214171320	G	A	214171320	3	1	261	1	0	0	0	0	1	0	0	0	12612	1087	38	1	1444	1	PROX1	1	214171320	Missense_Mutation	SNP	G	TCGA-QU-A6IP-01A-11D-A31L-08	163121995	214171320	35079301	3	13627											
PPM1G	5496	broad.mit.edu	37	chr2	27608655	27608655	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctttttcatcttcatccTcagtgggtcgccctgcaatc	5	17	6	13	1	5	0	3	0	2	0	8	0	6	0	2	1	1	1	2	1	1	4			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr2:27608655T>C	ENST00000344034.4	-	4	632	c.368A>G	c.(367-369)gAg>gGg	p.E123G	PPM1G_ENST00000350803.4_Missense_Mutation_p.E123G	NM_177983.2	NP_817092.1	O15355	PPM1G_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1G	123					cell cycle arrest|protein dephosphorylation	cytoplasm|nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					ATCTTCATCCTCAGTGGGTCG	0.403													3	48					0	0	1	0	0	C	27608655	T	C	27608655	3	2	261	1	0	0	0	0	1	0	0	0	12389	1551	54	3	1300	3	PPM1G	2	27608655	Missense_Mutation	SNP	T	TCGA-QU-A6IP-01A-11D-A31L-08		27608655	215590718	4	13628											
TTC21A	199223	broad.mit.edu	37	chr3	39180260	39180260	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaaattttggaaaaggcccGaaggtccctgaggccctagc	11	7	13	10	1	0	1	0	1	0	0	1	4	1	3	3	5	1	0	3	5	5	3			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr3:39180260G>A	ENST00000301819.6	+	29	4124	c.3947G>A	c.(3946-3948)cGa>cAa	p.R1316Q	TTC21A_ENST00000431162.2_Missense_Mutation_p.R1315Q|TTC21A_ENST00000440121.1_Missense_Mutation_p.R1267Q|TTC21A_ENST00000493856.1_3'UTR	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	1315			R -> K (in dbSNP:rs704959).				binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GAAAAGGCCCGAAGGTCCCTG	0.552													9	44					0	0	1	0	0	A	39180260	G	A	39180260	3	1	261	1	0	0	0	0	1	0	0	0	16749	1058	37	1	4061	1	TTC21A	3	39180260	Missense_Mutation	SNP	G	TCGA-QU-A6IP-01A-11D-A31L-08		39180260	158842170	5	13629											
GUF1	60558	broad.mit.edu	37	chr4	44682800	44682800	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcactgttaaagcacagacaGcatctctcttttacaattgt	12	14	5	10	0	3	1	1	0	2	1	4	1	3	1	0	0	3	3	0	0	4	4			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr4:44682800G>A	ENST00000281543.5	+	3	561	c.367G>A	c.(367-369)Gca>Aca	p.A123T	GUF1_ENST00000506793.1_3'UTR	NM_021927.2	NP_068746.2	Q8N442	GUF1_HUMAN	GUF1 GTPase homolog (S. cerevisiae)	123					translation	mitochondrial inner membrane	GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						AGCACAGACAGCATCTCTCTT	0.323													7	22					0	0	1	0	0	A	44682800	G	A	44682800	3	1	261	1	0	0	0	0	1	0	0	0	6940	971	34	2	377	2	GUF1	4	44682800	Missense_Mutation	SNP	G	TCGA-QU-A6IP-01A-11D-A31L-08		44682800	146471476	6	13630											
CARD6	84674	broad.mit.edu	37	chr5	40854090	40854090	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagcaactggaaaactgAtaagaacatcccatattgga	17	8	8	8	0	0	3	0	2	0	1	1	5	1	5	1	2	4	1	1	2	7	3			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr5:40854090A>G	ENST00000254691.5	+	3	2855	c.2656A>G	c.(2656-2658)Ata>Gta	p.I886V	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	886					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						TGGAAAACTGATAAGAACATC	0.488													32	85					0	0	1	0	0	G	40854090	A	G	40854090	3	3	261	1	0	0	0	0	1	0	0	0	2668	333	12	3	2666	3	CARD6	5	40854090	Missense_Mutation	SNP	A	TCGA-QU-A6IP-01A-11D-A31L-08		40854090	140061170	7	13631											
TNXB	7148	broad.mit.edu	37	chr6	32036898	32036898	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggccgtggtctcagtttccGtttcttccctgccggctggt	1	14	13	13	3	2	0	1	0	2	0	5	0	4	0	4	4	1	3	4	4	0	3			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr6:32036898G>A	ENST00000375244.3	-	16	5804	c.5603C>T	c.(5602-5604)aCg>aTg	p.T1868M	TNXB_ENST00000375247.2_Missense_Mutation_p.T1868M			P22105	TENX_HUMAN	tenascin XB	1950	Fibronectin type-III 11.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CTCAGTTTCCGTTTCTTCCCT	0.632													7	23					0	0	1	0	0	A	32036898	G	A	32036898	3	1	261	1	0	0	0	0	1	0	0	0	16406	1145	40	1	9226	1	TNXB	6	32036898	Missense_Mutation	SNP	G	TCGA-QU-A6IP-01A-11D-A31L-08		32036898	139078169	8	13632											
COL11A2	1302	broad.mit.edu	37	chr6	33143390	33143390	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggggcccagggtctccagtCggtccagtgcgtccctttgg	3	9	16	13	2	1	0	0	0	1	0	5	0	3	0	4	5	1	0	4	5	0	1			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr6:33143390C>T	ENST00000341947.2	-	30	2564	c.2337G>A	c.(2335-2337)ccG>ccA	p.P779P	COL11A2_ENST00000361917.1_Silent_p.P672P|COL11A2_ENST00000374714.1_Silent_p.P753P|COL11A2_ENST00000395197.1_Silent_p.P719P|COL11A2_ENST00000374712.1_Silent_p.P698P|COL11A2_ENST00000374708.4_Silent_p.P693P|COL11A2_ENST00000374713.1_Silent_p.P732P|COL11A2_ENST00000357486.1_Silent_p.P758P|COL11A2_ENST00000477772.1_Intron	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	779	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GGTCTCCAGTCGGTCCAGTGC	0.647													4	84					0	0	1	0	0	T	33143390	C	T	33143390	2	4	261	1	0	0	0	0	0	0	0	1	3691	871	31	1		1	COL11A2	6	33143390	Silent	SNP	C	TCGA-QU-A6IP-01A-11D-A31L-08	1106492	33143390	137971677	9	13633											
LGSN	51557	broad.mit.edu	37	chr6	63990360	63990360	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccttggaataacgctttcGgcagctaacagaaggcgcca	11	8	11	11	3	0	1	0	0	0	1	2	2	1	2	2	3	3	3	2	3	4	4			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr6:63990360G>A	ENST00000370657.4	-	4	1129	c.1096C>T	c.(1096-1098)Cga>Tga	p.R366*	LGSN_ENST00000370658.5_3'UTR			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	366					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	TAACGCTTTCGGCAGCTAACA	0.478													4	131					0	0	1	0	0	A	63990360	G	A	63990360	4	1	261	1	0	0	0	0	0	1	0	0	8799	1124	39	1	437	1	LGSN	6	63990360	Nonsense_Mutation	SNP	G	TCGA-QU-A6IP-01A-11D-A31L-08	30846970	63990360	107124707	10	13634											
CUX1	1523	broad.mit.edu	37	chr7	101916637	101916637	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgtcttcctttggccacagGacgctgtgcagagctgcaag	8	10	12	11	1	1	1	0	0	1	1	2	2	2	2	2	2	3	4	2	2	1	2			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr7:101916637G>T	ENST00000437600.4	+	15	1602	c.1249_splice	c.e15-1	p.G417_splice	CUX1_ENST00000425244.2_Splice_Site_p.G373_splice|CUX1_ENST00000393824.3_Splice_Site_p.G380_splice|CUX1_ENST00000292538.4_Splice_Site_p.G419_splice|CUX1_ENST00000547394.2_Splice_Site_p.G403_splice|CUX1_ENST00000560541.1_3'UTR	NM_181500.2	NP_852477.1	P39880	CUX1_HUMAN	cut-like homeobox 1	408					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TTGGCCACAGGACGCTGTGCA	0.627													3	12					0.004672	0.00495515	1	1	0	T	101916637	G	T	101916637	5	4	261	1	0	0	0	0	0	0	1	0	4087	1188	41	4	4684	4	CUX1	7	101916637	Splice_Site	SNP	G	TCGA-QU-A6IP-01A-11D-A31L-08		101916637	57222026	11	13635											
MTUS1	57509	broad.mit.edu	37	chr8	17612416	17612416	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatgcagaatcattggggaCttccatgccatcagaaactg	13	10	9	9	0	2	2	2	0	0	2	3	3	3	3	2	2	3	1	2	2	3	3			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr8:17612416C>G	ENST00000381869.3	-	2	1374	c.901G>C	c.(901-903)Gtc>Ctc	p.V301L	MTUS1_ENST00000381862.3_Missense_Mutation_p.V301L|MTUS1_ENST00000262102.6_Missense_Mutation_p.V301L|MTUS1_ENST00000519263.1_Missense_Mutation_p.V301L	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	301						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		TCATTGGGGACTTCCATGCCA	0.433													4	144					0	0	1	0	0	G	17612416	C	G	17612416	3	3	261	1	0	0	0	0	1	0	0	0	10013	565	20	4	3286	4	MTUS1	8	17612416	Missense_Mutation	SNP	C	TCGA-QU-A6IP-01A-11D-A31L-08		17612416	128751606	12	13636											
PLEC	5339	broad.mit.edu	37	chr8	144995923	144995923	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcggccctgcaggtagtggCgcacgtcttcccgccgtgcg	3	8	15	15	6	1	0	0	0	1	0	2	0	2	0	3	3	3	3	3	3	1	2			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr8:144995923C>T	ENST00000322810.4	-	32	8646	c.8477G>A	c.(8476-8478)cGc>cAc	p.R2826H	PLEC_ENST00000354958.2_Missense_Mutation_p.R2667H|PLEC_ENST00000436759.2_Missense_Mutation_p.R2716H|PLEC_ENST00000356346.3_Missense_Mutation_p.R2675H|PLEC_ENST00000354589.3_Missense_Mutation_p.R2689H|PLEC_ENST00000357649.2_Missense_Mutation_p.R2693H|PLEC_ENST00000345136.3_Missense_Mutation_p.R2689H|PLEC_ENST00000527096.1_Missense_Mutation_p.R2712H|PLEC_ENST00000398774.2_Missense_Mutation_p.R2657H	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2826	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CAGGTAGTGGCGCACGTCTTC	0.662													12	65					0	0	1	0	0	T	144995923	C	T	144995923	3	4	261	1	0	0	0	0	1	0	0	0	12100	768	27	1	5581	1	PLEC	8	144995923	Missense_Mutation	SNP	C	TCGA-QU-A6IP-01A-11D-A31L-08	127383507	144995923	1368099	13	13637											
GOLGA2	2801	broad.mit.edu	37	chr9	131019398	131019398	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtcagcccggtaaaaaaaaGgaatgcaggggttgctgccc	12	6	13	10	2	1	0	1	0	0	0	1	1	1	1	2	4	4	4	2	4	5	2			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr9:131019398G>A	ENST00000421699.2	-	26	2969	c.2957C>T	c.(2956-2958)cCt>cTt	p.P986L		NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	986						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						GTAAAAAAAAGGAATGCAGGG	0.557													4	170					0	0	1	0	0	A	131019398	G	A	131019398	3	1	261	1	0	0	0	0	1	0	0	0	6594	1000	35	2	55	2	GOLGA2	9	131019398	Missense_Mutation	SNP	G	TCGA-QU-A6IP-01A-11D-A31L-08		131019398	10194033	14	13638											
AGAP11	119385	broad.mit.edu	37	chr10	88769150	88769150	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcacccgcctttcccgtgtgCgatctctggagctggatgac	5	10	12	14	3	1	1	0	1	1	0	3	4	2	3	3	2	2	2	3	2	0	1			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr10:88769150C>T	ENST00000444431.1	+	0	3750				RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										TTCCCGTGTGCGATCTCTGGA	0.537													4	251					0	0	1	0	0	T	88769150	C	T	88769150	1	4	261	0	1	0	0	0	0	0	0	0	366	760	27	1		1	AGAP11	10	88769150	RNA	SNP	C	TCGA-QU-A6IP-01A-11D-A31L-08		88769150	46765597	15	13639											
TCF7L2	6934	broad.mit.edu	37	chr10	114925492	114925492	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtcgctgtccctgaagcccGaccccctggcccacctgtcc	4	8	9	20	2	0	1	0	1	0	0	3	2	2	1	7	1	1	1	7	1	1	0	rs61724286		TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr10:114925492G>A	ENST00000355995.4	+	15	2128	c.1621G>A	c.(1621-1623)Gac>Aac	p.D541N	TCF7L2_ENST00000369386.1_3'UTR|TCF7L2_ENST00000355717.4_3'UTR|TCF7L2_ENST00000543371.1_Missense_Mutation_p.D524N|TCF7L2_ENST00000545257.1_Missense_Mutation_p.D541N|TCF7L2_ENST00000542695.1_Missense_Mutation_p.D257N|TCF7L2_ENST00000369397.4_Missense_Mutation_p.D518N|TCF7L2_ENST00000538897.1_3'UTR|TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000536810.1_Missense_Mutation_p.D524N			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	541					anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		CCTGAAGCCCGACCCCCTGGC	0.692			T	VTI1A	colorectal								6	122					0	0	1	0	0	A	114925492	G	A	114925492	3	1	261	1	0	0	0	0	1	0	0	0	15758	1058	37	1	1901	1	TCF7L2	10	114925492	Missense_Mutation	SNP	G	TCGA-QU-A6IP-01A-11D-A31L-08	26156342	114925492	20609255	16	13640											
ATE1	11101	broad.mit.edu	37	chr10	123659394	123659395	+	Frame_Shift_Ins	INS	-	-	GC																															gctgacctggctttcggttgINSgcgtatcaggtgggttcttg																										TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr10:123659394_123659395insGC	ENST00000535655.1	-	5	983_984	c.31_32insGC	c.(31-33)aacfs	p.N11fs	ATE1_ENST00000224652.6_Frame_Shift_Ins_p.N310fs|ATE1_ENST00000369043.3_Intron|ATE1_ENST00000369040.3_Intron|ATE1_ENST00000543447.1_Frame_Shift_Ins_p.N195fs|ATE1_ENST00000540606.1_Intron|ATE1_ENST00000481784.1_Intron			O95260	ATE1_HUMAN	arginyltransferase 1	310				AGGSPSV -> GGGFAAS (in Ref. 4; AAD12366).	protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				GCTTTCGGTTGGCGTATCAGGT	0.431													15	71	---	---	---	---						GC	123659395	-	GC	123659394	7	5	261	1	0	1	1	0	0	0	0	0	1077	1348	47	0	784	0	ATE1	10	123659394	Frame_Shift_Ins	INS	-	TCGA-QU-A6IP-01A-11D-A31L-08	8733902	123659394	11875353	17	13641											
OR10G4	390264	broad.mit.edu	37	chr11	123886915	123886915	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcctcaggctgctttgtcCtgatagtgctgtcctatgtg	4	15	12	10	0	1	1	1	1	0	0	3	1	3	1	3	2	2	3	3	2	2	3			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr11:123886915C>T	ENST00000320891.4	+	1	634	c.634C>T	c.(634-636)Ctg>Ttg	p.L212L		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CTGCTTTGTCCTGATAGTGCT	0.562													24	95					0	0	1	0	0	T	123886915	C	T	123886915	2	4	261	1	0	0	0	0	0	0	0	1	10949	680	24	2		2	OR10G4	11	123886915	Silent	SNP	C	TCGA-QU-A6IP-01A-11D-A31L-08		123886915	11119601	18	13642											
PRB4	5545	broad.mit.edu	37	chr12	11461248	11461248	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggaggtggcccctggggCtttccagcaggaggtgcctg	4	8	19	10	0	0	0	0	0	0	0	1	2	1	2	4	8	2	2	4	8	0	1			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr12:11461248C>T	ENST00000279575.1	-	3	702	c.669G>A	c.(667-669)aaG>aaA	p.K223K	PRB4_ENST00000445719.2_Silent_p.K154K|PRB4_ENST00000535904.1_Silent_p.K223K	NM_001261399.1|NM_002723.4	NP_001248328.1|NP_002714.2	P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	286	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.					extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						GCCCCTGGGGCTTTCCAGCAG	0.622										HNSCC(22;0.051)			43	132					0	0	1	0	0	T	11461248	C	T	11461248	2	4	261	1	0	0	0	0	0	0	0	1	12497	796	28	2		2	PRB4	12	11461248	Silent	SNP	C	TCGA-QU-A6IP-01A-11D-A31L-08		11461248	122390647	19	13643											
ITPR2	3709	broad.mit.edu	37	chr12	26564280	26564280	+	Frame_Shift_Del	DEL	A	A	-																															tgaagctggaattgtgggtgAacagttctccttggcacatg																										TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr12:26564280delA	ENST00000381340.3	-	52	7788	c.7372delT	c.(7372-7374)cafs	p.S2458fs	RP11-513G19.1_ENST00000535324.1_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2458					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					ATTGTGGGTGAACAGTTCTCC	0.353													22	58	---	---	---	---						-	26564280	A	-	26564280	7	5	261	1	0	1	0	1	0	0	0	0	7965	246	9	0	757	0	ITPR2	12	26564280	Frame_Shift_Del	DEL	A	TCGA-QU-A6IP-01A-11D-A31L-08	15103032	26564280	107287615	20	13644											
PTGR2	145482	broad.mit.edu	37	chr14	74346776	74346776	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgaatgagaacagccacAtcatcctgtgtggtcaaatt	14	10	9	8	0	2	3	2	2	0	2	3	4	3	3	2	1	2	0	2	1	3	1			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr14:74346776A>G	ENST00000555661.1	+	7	893	c.748A>G	c.(748-750)Atc>Gtc	p.I250V	PTGR2_ENST00000554885.1_Missense_Mutation_p.I201V|PTGR2_ENST00000267568.4_Missense_Mutation_p.I250V|PTGR2_ENST00000555228.1_Missense_Mutation_p.I250V|RP5-1021I20.4_ENST00000553813.1_Missense_Mutation_p.I116V			Q8N8N7	PTGR2_HUMAN	prostaglandin reductase 2	250					prostaglandin metabolic process		15-oxoprostaglandin 13-oxidase activity|zinc ion binding			NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(2)	9						GAACAGCCACATCATCCTGTG	0.413													14	33					0	0	1	0	0	G	74346776	A	G	74346776	3	3	261	1	0	0	0	0	1	0	0	0	12804	217	8	3	770	3	PTGR2	14	74346776	Missense_Mutation	SNP	A	TCGA-QU-A6IP-01A-11D-A31L-08		74346776	33002764	21	13645											
RYR3	6263	broad.mit.edu	37	chr15	34015067	34015067	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctgagaacccagcgctcgaCctcccctctcaaggatacaa	11	7	7	16	2	2	1	1	1	2	1	5	4	3	2	4	1	3	1	4	1	4	1			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr15:34015067C>T	ENST00000389232.4	+	44	6841	c.6771C>T	c.(6769-6771)gaC>gaT	p.D2257D	RYR3_ENST00000415757.3_Silent_p.D2257D	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2257	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CAGCGCTCGACCTCCCCTCTC	0.557													38	88					0	0	1	0	0	T	34015067	C	T	34015067	2	4	261	1	0	0	0	0	0	0	0	1	13822	506	18	2		2	RYR3	15	34015067	Silent	SNP	C	TCGA-QU-A6IP-01A-11D-A31L-08		34015067	68516325	22	13646											
ARMC5	79798	broad.mit.edu	37	chr16	31473879	31473881	+	In_Frame_Del	DEL	TAA	TAA	-																															ctccggcagcgccgggatccTaatggagctagcccaacctc																										TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr16:31473879_31473881delTAA	ENST00000457010.2	+	3	1712_1714	c.1011_1013delTAA	c.(1009-1014)cct>cc	p.PN337del	ARMC5_ENST00000268314.4_In_Frame_Del_p.PN337del|ARMC5_ENST00000538189.1_In_Frame_Del_p.PN369del|ARMC5_ENST00000412665.2_Intron|ARMC5_ENST00000563544.1_In_Frame_Del_p.PN337del|ARMC5_ENST00000408912.3_In_Frame_Del_p.PN432del	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	337							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GCCGGGATCCTAATGGAGCTAGC	0.66													9	69	---	---	---	---						-	31473881	TAA	-	31473879	7	5	261	1	0	1	0	1	0	0	0	0	953	1509	53	0	1021	0	ARMC5	16	31473879	In_Frame_Del	DEL	TAA	TCGA-QU-A6IP-01A-11D-A31L-08		31473879	58880874	23	13647											
SSH2	85464	broad.mit.edu	37	chr17	27963447	27963447	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggctgaattaaggcttTggatgcatggcaattgtcaa	11	12	11	7	0	1	1	1	1	0	0	2	2	2	2	1	4	1	4	1	4	4	3			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr17:27963447T>C	ENST00000269033.3	-	14	1871	c.1720A>G	c.(1720-1722)Aaa>Gaa	p.K574E	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.K601E	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	574					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATTAAGGCTTTGGATGCATGG	0.403													3	52					0	0	1	0	0	C	27963447	T	C	27963447	3	2	261	1	0	0	0	0	1	0	0	0	15241	1821	63	3	2559	3	SSH2	17	27963447	Missense_Mutation	SNP	T	TCGA-QU-A6IP-01A-11D-A31L-08		27963447	53231763	24	13648											
NPLOC4	55666	broad.mit.edu	37	chr17	79577247	79577247	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactctcacctctagagggaCgcagtgcacgcatttcccca	9	8	9	15	2	2	1	1	0	2	1	4	3	3	2	3	1	1	3	3	1	1	2			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr17:79577247C>T	ENST00000374747.5	-	5	553	c.424G>A	c.(424-426)Gtc>Atc	p.V142I	NPLOC4_ENST00000539314.1_Intron|NPLOC4_ENST00000331134.6_Missense_Mutation_p.V142I|NPLOC4_ENST00000574344.1_5'UTR			Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	142					cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			TCTAGAGGGACGCAGTGCACG	0.587													3	4					0	0	1	0	0	T	79577247	C	T	79577247	3	4	261	1	0	0	0	0	1	0	0	0	10634	536	19	1	1454	1	NPLOC4	17	79577247	Missense_Mutation	SNP	C	TCGA-QU-A6IP-01A-11D-A31L-08	51613800	79577247	1617963	25	13649											
RFX1	5989	broad.mit.edu	37	chr19	14083867	14083867	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctgggtggccgtgcctgcGgcctcgtagtagctggtgct	3	10	16	12	3	0	0	0	0	0	0	1	0	0	0	4	4	4	4	4	4	2	2			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chr19:14083867G>A	ENST00000254325.4	-	9	1236	c.1002C>T	c.(1000-1002)gcC>gcT	p.A334A		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	334					immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			CCGTGCCTGCGGCCTCGTAGT	0.667													12	37					0	0	1	0	0	A	14083867	G	A	14083867	2	1	261	1	0	0	0	0	0	0	0	1	13314	1103	39	1		1	RFX1	19	14083867	Silent	SNP	G	TCGA-QU-A6IP-01A-11D-A31L-08		14083867	45045116	26	13650											
NXF3	56000	broad.mit.edu	37	chrX	102337986	102337986	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcctgggagacatcacactGttggttcatggccagctgca	8	11	11	11	0	2	1	2	0	0	1	3	2	3	1	2	3	2	4	2	3	0	3			TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chrX:102337986G>A	ENST00000395065.3	-	7	738	c.637C>T	c.(637-639)Cag>Tag	p.Q213*	NXF3_ENST00000425463.2_Nonsense_Mutation_p.Q124*|NXF3_ENST00000425644.1_5'UTR	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	213						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						ACATCACACTGTTGGTTCATG	0.512													71	71					0	0	1	0	0	A	102337986	G	A	102337986	4	1	261	1	0	0	0	0	0	1	0	0	10833	1386	48	2	1010	2	NXF3	23	102337986	Nonsense_Mutation	SNP	G	TCGA-QU-A6IP-01A-11D-A31L-08		102337986	52932574	27	13651											
ACTRT1	139741	broad.mit.edu	37	chrX	127185962	127185962	+	Missense_Mutation	SNP	T	T	G																															atcctgttaccagtccacgcTcaatggggtagtgcaaatgt																										TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chrX:127185962T>G	ENST00000371124.3	-	1	420	c.224A>C	c.(223-225)gAg>gCg	p.E75A		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	75						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						CAGTCCACGCTCAATGGGGTA	0.468													5	121					0	0	1	0	0	G	127185962	T	G	127185962	3	3	261	1	0	0	0	0	1	0	0	0	217	1551	54	5	910	5	ACTRT1	23	127185962	Missense_Mutation	SNP	T	TCGA-QU-A6IP-01A-11D-A31L-08	24847976	127185962	28084598	28	13652	69	2									
ACTRT1	139741	broad.mit.edu	37	chrX	127185963	127185963	+	Nonsense_Mutation	SNP	C	C	A																															tcctgttaccagtccacgctCaatggggtagtgcaaatgta																										TCGA-QU-A6IP-01A-11D-A31L-08	TCGA-QU-A6IP-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8522e5d6-2758-432a-a023-6e6dc07e9893	148f3b38-a40b-4815-a3b4-d00c41470ae4	g.chrX:127185963C>A	ENST00000371124.3	-	1	419	c.223G>T	c.(223-225)Gag>Tag	p.E75*		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	75						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						AGTCCACGCTCAATGGGGTAG	0.463													4	115					0.150653	0.150653	1	1	0	A	127185963	C	A	127185963	4	1	261	1	0	0	0	0	0	1	0	0	217	835	29	4	911	4	ACTRT1	23	127185963	Nonsense_Mutation	SNP	C	TCGA-QU-A6IP-01A-11D-A31L-08	1	127185963	28084597	29	13653	69	2									
